mutation_id	protein_id	gene_symbol	reference_aa	mutation_position	alternate_aa	normalized_protein_change	clinical_significance_raw	label	disease_count	ptm_count	nearest_ptm_distance
MUT:AACS:Glu564Gln	PROT:Q86V21	AACS	E	564	Q	E564Q	Benign	0	10	12	54
MUT:AASS:Arg132His	PROT:Q9UDR5	AASS	R	132	H	R132H	Likely pathogenic	1	1	11	6
MUT:AASS:Arg471Cys	PROT:Q9UDR5	AASS	R	471	C	R471C	Likely benign	0	1	11	64
MUT:AASS:Arg65Gln	PROT:Q9UDR5	AASS	R	65	Q	R65Q	Likely pathogenic	1	1	11	9
MUT:AASS:Asn569Ser	PROT:Q9UDR5	AASS	N	569	S	N569S	Likely benign	0	1	11	30
MUT:AASS:Ile292Val	PROT:Q9UDR5	AASS	I	292	V	I292V	Pathogenic	1	1	11	29
MUT:AASS:Leu419Arg	PROT:Q9UDR5	AASS	L	419	R	L419R	Pathogenic	1	1	11	116
MUT:AASS:Lys820Arg	PROT:Q9UDR5	AASS	K	820	R	K820R	Benign	0	1	11	58
MUT:AASS:Met1Ile	PROT:Q9UDR5	AASS	M	1	I	M1I	Likely pathogenic	1	1	11	50
MUT:AASS:Pro560Ser	PROT:Q9UDR5	AASS	P	560	S	P560S	Likely benign	0	2	11	21
MUT:AASS:Ser900Leu	PROT:Q9UDR5	AASS	S	900	L	S900L	Likely benign	0	1	11	7
MUT:AASS:Thr224Ile	PROT:Q9UDR5	AASS	T	224	I	T224I	Likely benign	0	1	11	36
MUT:ABCA13:Ala2102Ser	PROT:Q86UQ4	ABCA13	A	2102	S	A2102S	Likely benign	0	1	3	587
MUT:ABCA13:Ala500Val	PROT:Q86UQ4	ABCA13	A	500	V	A500V	Benign	0	1	3	1015
MUT:ABCA13:Arg4590Trp	PROT:Q86UQ4	ABCA13	R	4590	W	R4590W	Likely benign	0	1	3	724
MUT:ABCA13:Arg4843Cys	PROT:Q86UQ4	ABCA13	R	4843	C	R4843C	Likely benign	0	2	3	977
MUT:ABCA13:Asp1360Asn	PROT:Q86UQ4	ABCA13	D	1360	N	D1360N	Benign	0	1	3	155
MUT:ABCA13:Glu384Lys	PROT:Q86UQ4	ABCA13	E	384	K	E384K	Likely benign	0	1	3	1131
MUT:ABCA13:His2543Arg	PROT:Q86UQ4	ABCA13	H	2543	R	H2543R	Likely benign	0	1	3	1028
MUT:ABCA13:Ile2608Arg	PROT:Q86UQ4	ABCA13	I	2608	R	I2608R	Benign	0	1	3	1093
MUT:ABCA13:Leu1630Val	PROT:Q86UQ4	ABCA13	L	1630	V	L1630V	Benign	0	5	3	115
MUT:ABCA13:Leu3394His	PROT:Q86UQ4	ABCA13	L	3394	H	L3394H	Likely benign	0	1	3	452
MUT:ABCA13:Leu793Arg	PROT:Q86UQ4	ABCA13	L	793	R	L793R	Likely benign	0	1	3	722
MUT:ABCA13:Met3074Lys	PROT:Q86UQ4	ABCA13	M	3074	K	M3074K	Benign	0	1	3	772
MUT:ABCA13:Thr4550Ala	PROT:Q86UQ4	ABCA13	T	4550	A	T4550A	Benign	0	3	3	684
MUT:ABCA13:Trp1154Gly	PROT:Q86UQ4	ABCA13	W	1154	G	W1154G	Benign/Likely benign	0	2	3	361
MUT:ABCA1:Ala343Val	PROT:O95477	ABCA1	A	343	V	A343V	Benign/Likely benign	0	3	11	18
MUT:ABCA1:Ala697Thr	PROT:O95477	ABCA1	A	697	T	A697T	Benign/Likely benign	0	2	11	345
MUT:ABCA1:Ala937Val	PROT:O95477	ABCA1	A	937	V	A937V	Pathogenic	1	1	11	105
MUT:ABCA1:Arg1341Thr	PROT:O95477	ABCA1	R	1341	T	R1341T	Likely benign	0	1	11	36
MUT:ABCA1:Arg1680Trp	PROT:O95477	ABCA1	R	1680	W	R1680W	Pathogenic	1	1	11	132
MUT:ABCA1:Arg2080Trp	PROT:O95477	ABCA1	R	2080	W	R2080W	Likely pathogenic	1	1	11	2
MUT:ABCA1:Arg2081Trp	PROT:O95477	ABCA1	R	2081	W	R2081W	Likely pathogenic	1	1	11	3
MUT:ABCA1:Arg219Lys	PROT:O95477	ABCA1	R	219	K	R219K	Benign	0	2	11	106
MUT:ABCA1:Arg230Cys	PROT:O95477	ABCA1	R	230	C	R230C	Benign	0	3	11	95
MUT:ABCA1:Arg587Trp	PROT:O95477	ABCA1	R	587	W	R587W	Pathogenic/Likely pathogenic	1	2	11	262
MUT:ABCA1:Arg638Gln	PROT:O95477	ABCA1	R	638	Q	R638Q	Benign/Likely benign	0	2	11	313
MUT:ABCA1:Asn1800His	PROT:O95477	ABCA1	N	1800	H	N1800H	Pathogenic/Likely pathogenic	1	5	11	252
MUT:ABCA1:Asn935Asp	PROT:O95477	ABCA1	N	935	D	N935D	Likely pathogenic	1	1	11	107
MUT:ABCA1:Asn935His	PROT:O95477	ABCA1	N	935	H	N935H	Pathogenic	1	1	11	107
MUT:ABCA1:Asn935Ser	PROT:O95477	ABCA1	N	935	S	N935S	Pathogenic	1	1	11	107
MUT:ABCA1:Asp1289Asn	PROT:O95477	ABCA1	D	1289	N	D1289N	Benign/Likely benign	0	2	11	3
MUT:ABCA1:Asp2243Glu	PROT:O95477	ABCA1	D	2243	E	D2243E	Benign/Likely benign	0	2	11	165
MUT:ABCA1:Cys1477Arg	PROT:O95477	ABCA1	C	1477	R	C1477R	Likely pathogenic	1	2	11	71
MUT:ABCA1:Gln597Arg	PROT:O95477	ABCA1	Q	597	R	Q597R	Pathogenic	1	1	11	272
MUT:ABCA1:Glu1172Asp	PROT:O95477	ABCA1	E	1172	D	E1172D	Benign	0	3	11	70
MUT:ABCA1:Glu1916Ala	PROT:O95477	ABCA1	E	1916	A	E1916A	Benign/Likely benign	0	1	11	138
MUT:ABCA1:Glu868Lys	PROT:O95477	ABCA1	E	868	K	E868K	Benign/Likely benign	0	2	11	174
MUT:ABCA1:Ile883Met	PROT:O95477	ABCA1	I	883	M	I883M	Benign	0	4	11	159
MUT:ABCA1:Leu1408Phe	PROT:O95477	ABCA1	L	1408	F	L1408F	Benign/Likely benign	0	2	11	103
MUT:ABCA1:Lys1587Arg	PROT:O95477	ABCA1	K	1587	R	K1587R	Benign	0	2	11	39
MUT:ABCA1:Lys776Asn	PROT:O95477	ABCA1	K	776	N	K776N	Benign/Likely benign	0	2	11	266
MUT:ABCA1:Phe2009Ser	PROT:O95477	ABCA1	F	2009	S	F2009S	Pathogenic	1	1	11	45
MUT:ABCA1:Ser1506Leu	PROT:O95477	ABCA1	S	1506	L	S1506L	Likely pathogenic	1	1	11	42
MUT:ABCA1:Ser212Thr	PROT:O95477	ABCA1	S	212	T	S212T	Benign/Likely benign	0	3	11	113
MUT:ABCA1:Val1674Ile	PROT:O95477	ABCA1	V	1674	I	V1674I	Likely benign	0	2	11	126
MUT:ABCA1:Val771Met	PROT:O95477	ABCA1	V	771	M	V771M	Benign	0	2	11	271
MUT:ABCA1:Val825Ile	PROT:O95477	ABCA1	V	825	I	V825I	Benign	0	2	11	217
MUT:ABCA2:Ala133Val	PROT:Q9BZC7	ABCA2	A	133	V	A133V	Likely benign	0	1	17	149
MUT:ABCA2:Ala364Val	PROT:Q9BZC7	ABCA2	A	364	V	A364V	Benign	0	1	17	82
MUT:ABCA2:Arg157Thr	PROT:Q9BZC7	ABCA2	R	157	T	R157T	Likely benign	0	1	17	125
MUT:ABCA2:Arg164His	PROT:Q9BZC7	ABCA2	R	164	H	R164H	Benign	0	1	17	118
MUT:ABCA2:Arg471His	PROT:Q9BZC7	ABCA2	R	471	H	R471H	Likely benign	0	1	17	189
MUT:ABCA2:Gly1712Ser	PROT:Q9BZC7	ABCA2	G	1712	S	G1712S	Likely benign	0	1	17	23
MUT:ABCA2:Met1Val	PROT:Q9BZC7	ABCA2	M	1	V	M1V	Benign	0	4	17	281
MUT:ABCA2:Val1423Phe	PROT:Q9BZC7	ABCA2	V	1423	F	V1423F	Benign	0	1	17	41
MUT:ABCA2:Val2114Ile	PROT:Q9BZC7	ABCA2	V	2114	I	V2114I	Likely benign	0	1	17	27
MUT:ABCA4:Ala1038Val	PROT:P78363	ABCA4	A	1038	V	A1038V	Pathogenic/Likely pathogenic	1	11	10	137
MUT:ABCA4:Ala1075Asp	PROT:P78363	ABCA4	A	1075	D	A1075D	Likely pathogenic	1	1	10	110
MUT:ABCA4:Ala1219Pro	PROT:P78363	ABCA4	A	1219	P	A1219P	Pathogenic/Likely pathogenic	1	1	10	34
MUT:ABCA4:Ala1357Glu	PROT:P78363	ABCA4	A	1357	E	A1357E	Pathogenic	1	2	10	40
MUT:ABCA4:Ala1357Thr	PROT:P78363	ABCA4	A	1357	T	A1357T	Pathogenic	1	2	10	40
MUT:ABCA4:Ala1598Asp	PROT:P78363	ABCA4	A	1598	D	A1598D	Pathogenic/Likely pathogenic	1	9	10	3
MUT:ABCA4:Ala1598Gly	PROT:P78363	ABCA4	A	1598	G	A1598G	Pathogenic	1	1	10	3
MUT:ABCA4:Ala1762Asp	PROT:P78363	ABCA4	A	1762	D	A1762D	Pathogenic	1	2	10	167
MUT:ABCA4:Ala1773Val	PROT:P78363	ABCA4	A	1773	V	A1773V	Pathogenic	1	5	10	178
MUT:ABCA4:Ala1781Glu	PROT:P78363	ABCA4	A	1781	E	A1781E	Likely pathogenic	1	1	10	186
MUT:ABCA4:Ala1794Asp	PROT:P78363	ABCA4	A	1794	D	A1794D	Pathogenic/Likely pathogenic	1	4	10	199
MUT:ABCA4:Ala1794Pro	PROT:P78363	ABCA4	A	1794	P	A1794P	Pathogenic	1	2	10	199
MUT:ABCA4:Ala1853Asp	PROT:P78363	ABCA4	A	1853	D	A1853D	Likely pathogenic	1	2	10	204
MUT:ABCA4:Ala1859Thr	PROT:P78363	ABCA4	A	1859	T	A1859T	Likely pathogenic	1	1	10	198
MUT:ABCA4:Ala1881Gly	PROT:P78363	ABCA4	A	1881	G	A1881G	Pathogenic	1	1	10	176
MUT:ABCA4:Ala1881Val	PROT:P78363	ABCA4	A	1881	V	A1881V	Pathogenic/Likely pathogenic	1	4	10	176
MUT:ABCA4:Ala1976Thr	PROT:P78363	ABCA4	A	1976	T	A1976T	Likely pathogenic	1	1	10	81
MUT:ABCA4:Ala2064Thr	PROT:P78363	ABCA4	A	2064	T	A2064T	Pathogenic/Likely pathogenic	1	1	10	1
MUT:ABCA4:Ala2064Val	PROT:P78363	ABCA4	A	2064	V	A2064V	Pathogenic/Likely pathogenic	1	2	10	1
MUT:ABCA4:Ala2216Val	PROT:P78363	ABCA4	A	2216	V	A2216V	Pathogenic	1	2	10	56
MUT:ABCA4:Ala60Val	PROT:P78363	ABCA4	A	60	V	A60V	Pathogenic/Likely pathogenic	1	3	10	78
MUT:ABCA4:Ala64Val	PROT:P78363	ABCA4	A	64	V	A64V	Likely pathogenic	1	1	10	74
MUT:ABCA4:Ala801Thr	PROT:P78363	ABCA4	A	801	T	A801T	Pathogenic/Likely pathogenic	1	3	10	100
MUT:ABCA4:Arg1098Cys	PROT:P78363	ABCA4	R	1098	C	R1098C	Pathogenic/Likely pathogenic	1	3	10	87
MUT:ABCA4:Arg1108Cys	PROT:P78363	ABCA4	R	1108	C	R1108C	Pathogenic/Likely pathogenic	1	8	10	77
MUT:ABCA4:Arg1108His	PROT:P78363	ABCA4	R	1108	H	R1108H	Pathogenic	1	4	10	77
MUT:ABCA4:Arg1108Leu	PROT:P78363	ABCA4	R	1108	L	R1108L	Pathogenic/Likely pathogenic	1	2	10	77
MUT:ABCA4:Arg1129Cys	PROT:P78363	ABCA4	R	1129	C	R1129C	Pathogenic/Likely pathogenic	1	2	10	56
MUT:ABCA4:Arg1129Gly	PROT:P78363	ABCA4	R	1129	G	R1129G	Likely pathogenic	1	2	10	56
MUT:ABCA4:Arg1129His	PROT:P78363	ABCA4	R	1129	H	R1129H	Pathogenic/Likely pathogenic	1	1	10	56
MUT:ABCA4:Arg1129Leu	PROT:P78363	ABCA4	R	1129	L	R1129L	Pathogenic	1	7	10	56
MUT:ABCA4:Arg1161Cys	PROT:P78363	ABCA4	R	1161	C	R1161C	Likely pathogenic	1	2	10	24
MUT:ABCA4:Arg1161His	PROT:P78363	ABCA4	R	1161	H	R1161H	Pathogenic/Likely pathogenic	1	5	10	24
MUT:ABCA4:Arg1300Gln	PROT:P78363	ABCA4	R	1300	Q	R1300Q	Benign/Likely benign	0	2	10	17
MUT:ABCA4:Arg1368Cys	PROT:P78363	ABCA4	R	1368	C	R1368C	Pathogenic/Likely pathogenic	1	2	10	51
MUT:ABCA4:Arg140Gly	PROT:P78363	ABCA4	R	140	G	R140G	Likely benign	0	1	10	2
MUT:ABCA4:Arg1443Cys	PROT:P78363	ABCA4	R	1443	C	R1443C	Pathogenic/Likely pathogenic	1	1	10	88
MUT:ABCA4:Arg1443His	PROT:P78363	ABCA4	R	1443	H	R1443H	Pathogenic/Likely pathogenic	1	5	10	88
MUT:ABCA4:Arg1556Thr	PROT:P78363	ABCA4	R	1556	T	R1556T	Pathogenic/Likely pathogenic	1	3	10	25
MUT:ABCA4:Arg1640Gln	PROT:P78363	ABCA4	R	1640	Q	R1640Q	Pathogenic/Likely pathogenic	1	6	10	45
MUT:ABCA4:Arg1705Gly	PROT:P78363	ABCA4	R	1705	G	R1705G	Likely pathogenic	1	1	10	110
MUT:ABCA4:Arg1705Leu	PROT:P78363	ABCA4	R	1705	L	R1705L	Likely pathogenic	1	2	10	110
MUT:ABCA4:Arg1843Trp	PROT:P78363	ABCA4	R	1843	W	R1843W	Pathogenic/Likely pathogenic	1	3	10	214
MUT:ABCA4:Arg1860Trp	PROT:P78363	ABCA4	R	1860	W	R1860W	Pathogenic/Likely pathogenic	1	2	10	197
MUT:ABCA4:Arg187Cys	PROT:P78363	ABCA4	R	187	C	R187C	Likely pathogenic	1	1	10	49
MUT:ABCA4:Arg187His	PROT:P78363	ABCA4	R	187	H	R187H	Pathogenic	1	1	10	49
MUT:ABCA4:Arg18Gln	PROT:P78363	ABCA4	R	18	Q	R18Q	Pathogenic	1	1	10	120
MUT:ABCA4:Arg18Pro	PROT:P78363	ABCA4	R	18	P	R18P	Pathogenic/Likely pathogenic	1	1	10	120
MUT:ABCA4:Arg18Trp	PROT:P78363	ABCA4	R	18	W	R18W	Pathogenic	1	3	10	120
MUT:ABCA4:Arg1925Ile	PROT:P78363	ABCA4	R	1925	I	R1925I	Pathogenic/Likely pathogenic	1	2	10	132
MUT:ABCA4:Arg2030Gln	PROT:P78363	ABCA4	R	2030	Q	R2030Q	Pathogenic	1	9	10	27
MUT:ABCA4:Arg2038Pro	PROT:P78363	ABCA4	R	2038	P	R2038P	Likely pathogenic	1	1	10	19
MUT:ABCA4:Arg2038Trp	PROT:P78363	ABCA4	R	2038	W	R2038W	Pathogenic	1	4	10	19
MUT:ABCA4:Arg2040Gln	PROT:P78363	ABCA4	R	2040	Q	R2040Q	Pathogenic/Likely pathogenic	1	5	10	17
MUT:ABCA4:Arg2077Gln	PROT:P78363	ABCA4	R	2077	Q	R2077Q	Pathogenic	1	1	10	14
MUT:ABCA4:Arg2077Gly	PROT:P78363	ABCA4	R	2077	G	R2077G	Pathogenic/Likely pathogenic	1	2	10	14
MUT:ABCA4:Arg2077Trp	PROT:P78363	ABCA4	R	2077	W	R2077W	Pathogenic/Likely pathogenic	1	4	10	14
MUT:ABCA4:Arg2106Cys	PROT:P78363	ABCA4	R	2106	C	R2106C	Pathogenic/Likely pathogenic	1	7	10	43
MUT:ABCA4:Arg2106His	PROT:P78363	ABCA4	R	2106	H	R2106H	Pathogenic/Likely pathogenic	1	2	10	43
MUT:ABCA4:Arg2107Cys	PROT:P78363	ABCA4	R	2107	C	R2107C	Pathogenic	1	3	10	44
MUT:ABCA4:Arg212Cys	PROT:P78363	ABCA4	R	212	C	R212C	Pathogenic	1	8	10	74
MUT:ABCA4:Arg2139Pro	PROT:P78363	ABCA4	R	2139	P	R2139P	Pathogenic	1	2	10	21
MUT:ABCA4:Arg2139Trp	PROT:P78363	ABCA4	R	2139	W	R2139W	Pathogenic	1	5	10	21
MUT:ABCA4:Arg2149Pro	PROT:P78363	ABCA4	R	2149	P	R2149P	Likely pathogenic	1	1	10	11
MUT:ABCA4:Arg220Cys	PROT:P78363	ABCA4	R	220	C	R220C	Pathogenic/Likely pathogenic	1	2	10	82
MUT:ABCA4:Arg24Cys	PROT:P78363	ABCA4	R	24	C	R24C	Pathogenic/Likely pathogenic	1	1	10	114
MUT:ABCA4:Arg24His	PROT:P78363	ABCA4	R	24	H	R24H	Pathogenic/Likely pathogenic	1	6	10	114
MUT:ABCA4:Arg508Pro	PROT:P78363	ABCA4	R	508	P	R508P	Likely pathogenic	1	1	10	370
MUT:ABCA4:Arg511Cys	PROT:P78363	ABCA4	R	511	C	R511C	Pathogenic/Likely pathogenic	1	5	10	373
MUT:ABCA4:Arg537Cys	PROT:P78363	ABCA4	R	537	C	R537C	Pathogenic/Likely pathogenic	1	3	10	364
MUT:ABCA4:Arg572Gln	PROT:P78363	ABCA4	R	572	Q	R572Q	Pathogenic	1	4	10	329
MUT:ABCA4:Arg572Pro	PROT:P78363	ABCA4	R	572	P	R572P	Pathogenic	1	3	10	329
MUT:ABCA4:Arg602Gln	PROT:P78363	ABCA4	R	602	Q	R602Q	Pathogenic/Likely pathogenic	1	2	10	299
MUT:ABCA4:Arg602Trp	PROT:P78363	ABCA4	R	602	W	R602W	Pathogenic	1	9	10	299
MUT:ABCA4:Arg653Cys	PROT:P78363	ABCA4	R	653	C	R653C	Pathogenic	1	6	10	248
MUT:ABCA4:Arg653His	PROT:P78363	ABCA4	R	653	H	R653H	Pathogenic	1	2	10	248
MUT:ABCA4:Arg653Leu	PROT:P78363	ABCA4	R	653	L	R653L	Likely pathogenic	1	3	10	248
MUT:ABCA4:Arg785Gly	PROT:P78363	ABCA4	R	785	G	R785G	Pathogenic/Likely pathogenic	1	1	10	116
MUT:ABCA4:Arg943Trp	PROT:P78363	ABCA4	R	943	W	R943W	Pathogenic/Likely pathogenic	1	3	10	42
MUT:ABCA4:Arg948Pro	PROT:P78363	ABCA4	R	948	P	R948P	Likely pathogenic	1	1	10	47
MUT:ABCA4:Asn1442Lys	PROT:P78363	ABCA4	N	1442	K	N1442K	Pathogenic	1	3	10	89
MUT:ABCA4:Asn14Lys	PROT:P78363	ABCA4	N	14	K	N14K	Pathogenic	1	1	10	124
MUT:ABCA4:Asn1799Asp	PROT:P78363	ABCA4	N	1799	D	N1799D	Pathogenic/Likely pathogenic	1	1	10	204
MUT:ABCA4:Asn1805Asp	PROT:P78363	ABCA4	N	1805	D	N1805D	Pathogenic/Likely pathogenic	1	4	10	210
MUT:ABCA4:Asn2075Lys	PROT:P78363	ABCA4	N	2075	K	N2075K	Likely pathogenic	1	1	10	12
MUT:ABCA4:Asn965Asp	PROT:P78363	ABCA4	N	965	D	N965D	Likely pathogenic	1	1	10	64
MUT:ABCA4:Asn965Ile	PROT:P78363	ABCA4	N	965	I	N965I	Likely pathogenic	1	1	10	64
MUT:ABCA4:Asn965Lys	PROT:P78363	ABCA4	N	965	K	N965K	Likely pathogenic	1	2	10	64
MUT:ABCA4:Asn965Ser	PROT:P78363	ABCA4	N	965	S	N965S	Pathogenic	1	7	10	64
MUT:ABCA4:Asn96Asp	PROT:P78363	ABCA4	N	96	D	N96D	Pathogenic/Likely pathogenic	1	3	10	42
MUT:ABCA4:Asn96His	PROT:P78363	ABCA4	N	96	H	N96H	Pathogenic/Likely pathogenic	1	1	10	42
MUT:ABCA4:Asp1093Glu	PROT:P78363	ABCA4	D	1093	E	D1093E	Pathogenic/Likely pathogenic	1	1	10	92
MUT:ABCA4:Asp1102Tyr	PROT:P78363	ABCA4	D	1102	Y	D1102Y	Pathogenic/Likely pathogenic	1	3	10	83
MUT:ABCA4:Asp1532Asn	PROT:P78363	ABCA4	D	1532	N	D1532N	Pathogenic/Likely pathogenic	1	5	10	1
MUT:ABCA4:Asp1532Val	PROT:P78363	ABCA4	D	1532	V	D1532V	Likely pathogenic	1	1	10	1
MUT:ABCA4:Asp1918Val	PROT:P78363	ABCA4	D	1918	V	D1918V	Pathogenic	1	1	10	139
MUT:ABCA4:Asp2102Glu	PROT:P78363	ABCA4	D	2102	E	D2102E	Pathogenic	1	2	10	39
MUT:ABCA4:Asp2102His	PROT:P78363	ABCA4	D	2102	H	D2102H	Likely pathogenic	1	1	10	39
MUT:ABCA4:Asp2177Asn	PROT:P78363	ABCA4	D	2177	N	D2177N	Benign/Likely benign	0	2	10	17
MUT:ABCA4:Asp507Gly	PROT:P78363	ABCA4	D	507	G	D507G	Likely pathogenic	1	1	10	369
MUT:ABCA4:Asp507Tyr	PROT:P78363	ABCA4	D	507	Y	D507Y	Pathogenic	1	2	10	369
MUT:ABCA4:Asp576His	PROT:P78363	ABCA4	D	576	H	D576H	Pathogenic/Likely pathogenic	1	1	10	325
MUT:ABCA4:Asp586Glu	PROT:P78363	ABCA4	D	586	E	D586E	Likely pathogenic	1	1	10	315
MUT:ABCA4:Asp586Gly	PROT:P78363	ABCA4	D	586	G	D586G	Pathogenic/Likely pathogenic	1	2	10	315
MUT:ABCA4:Asp600Tyr	PROT:P78363	ABCA4	D	600	Y	D600Y	Pathogenic	1	1	10	301
MUT:ABCA4:Asp645Asn	PROT:P78363	ABCA4	D	645	N	D645N	Pathogenic	1	2	10	256
MUT:ABCA4:Asp645Tyr	PROT:P78363	ABCA4	D	645	Y	D645Y	Pathogenic	1	1	10	256
MUT:ABCA4:Asp846Gly	PROT:P78363	ABCA4	D	846	G	D846G	Likely pathogenic	1	1	10	55
MUT:ABCA4:Asp846Val	PROT:P78363	ABCA4	D	846	V	D846V	Pathogenic/Likely pathogenic	1	2	10	55
MUT:ABCA4:Asp915Asn	PROT:P78363	ABCA4	D	915	N	D915N	Pathogenic/Likely pathogenic	1	1	10	14
MUT:ABCA4:Cys1140Trp	PROT:P78363	ABCA4	C	1140	W	C1140W	Pathogenic/Likely pathogenic	1	1	10	45
MUT:ABCA4:Cys1488Arg	PROT:P78363	ABCA4	C	1488	R	C1488R	Pathogenic/Likely pathogenic	1	7	10	43
MUT:ABCA4:Cys1488Phe	PROT:P78363	ABCA4	C	1488	F	C1488F	Pathogenic/Likely pathogenic	1	1	10	43
MUT:ABCA4:Cys1488Tyr	PROT:P78363	ABCA4	C	1488	Y	C1488Y	Pathogenic/Likely pathogenic	1	2	10	43
MUT:ABCA4:Cys1490Gly	PROT:P78363	ABCA4	C	1490	G	C1490G	Likely pathogenic	1	1	10	41
MUT:ABCA4:Cys1490Tyr	PROT:P78363	ABCA4	C	1490	Y	C1490Y	Pathogenic	1	6	10	41
MUT:ABCA4:Cys1502Phe	PROT:P78363	ABCA4	C	1502	F	C1502F	Pathogenic/Likely pathogenic	1	1	10	29
MUT:ABCA4:Cys2133Arg	PROT:P78363	ABCA4	C	2133	R	C2133R	Likely pathogenic	1	2	10	27
MUT:ABCA4:Cys2137Tyr	PROT:P78363	ABCA4	C	2137	Y	C2137Y	Pathogenic	1	1	10	23
MUT:ABCA4:Cys2150Arg	PROT:P78363	ABCA4	C	2150	R	C2150R	Likely pathogenic	1	1	10	10
MUT:ABCA4:Cys2150Tyr	PROT:P78363	ABCA4	C	2150	Y	C2150Y	Pathogenic/Likely pathogenic	1	3	10	10
MUT:ABCA4:Cys230Phe	PROT:P78363	ABCA4	C	230	F	C230F	Likely pathogenic	1	1	10	92
MUT:ABCA4:Cys230Ser	PROT:P78363	ABCA4	C	230	S	C230S	Pathogenic	1	1	10	92
MUT:ABCA4:Cys54Gly	PROT:P78363	ABCA4	C	54	G	C54G	Likely pathogenic	1	2	10	84
MUT:ABCA4:Cys54Phe	PROT:P78363	ABCA4	C	54	F	C54F	Pathogenic	1	1	10	84
MUT:ABCA4:Cys54Tyr	PROT:P78363	ABCA4	C	54	Y	C54Y	Pathogenic/Likely pathogenic	1	5	10	84
MUT:ABCA4:Cys75Gly	PROT:P78363	ABCA4	C	75	G	C75G	Pathogenic	1	2	10	63
MUT:ABCA4:Cys764Arg	PROT:P78363	ABCA4	C	764	R	C764R	Likely pathogenic	1	1	10	137
MUT:ABCA4:Cys764Tyr	PROT:P78363	ABCA4	C	764	Y	C764Y	Pathogenic/Likely pathogenic	1	2	10	137
MUT:ABCA4:Cys81Ser	PROT:P78363	ABCA4	C	81	S	C81S	Likely pathogenic	1	1	10	57
MUT:ABCA4:Gln1376His	PROT:P78363	ABCA4	Q	1376	H	Q1376H	Pathogenic/Likely pathogenic	1	1	10	59
MUT:ABCA4:Gln1376Pro	PROT:P78363	ABCA4	Q	1376	P	Q1376P	Likely pathogenic	1	1	10	59
MUT:ABCA4:Gln1713Arg	PROT:P78363	ABCA4	Q	1713	R	Q1713R	Pathogenic/Likely pathogenic	1	2	10	118
MUT:ABCA4:Gln1713Lys	PROT:P78363	ABCA4	Q	1713	K	Q1713K	Pathogenic/Likely pathogenic	1	4	10	118
MUT:ABCA4:Gln1897His	PROT:P78363	ABCA4	Q	1897	H	Q1897H	Pathogenic/Likely pathogenic	1	2	10	160
MUT:ABCA4:Gln2238Arg	PROT:P78363	ABCA4	Q	2238	R	Q2238R	Likely pathogenic	1	2	10	78
MUT:ABCA4:Gln612Pro	PROT:P78363	ABCA4	Q	612	P	Q612P	Likely pathogenic	1	1	10	289
MUT:ABCA4:Gln635Lys	PROT:P78363	ABCA4	Q	635	K	Q635K	Likely pathogenic	1	1	10	266
MUT:ABCA4:Gln636Lys	PROT:P78363	ABCA4	Q	636	K	Q636K	Pathogenic	1	1	10	265
MUT:ABCA4:Gln841Pro	PROT:P78363	ABCA4	Q	841	P	Q841P	Pathogenic/Likely pathogenic	1	1	10	60
MUT:ABCA4:Gln957Arg	PROT:P78363	ABCA4	Q	957	R	Q957R	Likely pathogenic	1	1	10	56
MUT:ABCA4:Glu1022Lys	PROT:P78363	ABCA4	E	1022	K	E1022K	Pathogenic/Likely pathogenic	1	6	10	121
MUT:ABCA4:Glu1036Lys	PROT:P78363	ABCA4	E	1036	K	E1036K	Pathogenic/Likely pathogenic	1	2	10	135
MUT:ABCA4:Glu1087Asp	PROT:P78363	ABCA4	E	1087	D	E1087D	Pathogenic/Likely pathogenic	1	2	10	98
MUT:ABCA4:Glu1087Lys	PROT:P78363	ABCA4	E	1087	K	E1087K	Pathogenic	1	6	10	98
MUT:ABCA4:Glu1122Lys	PROT:P78363	ABCA4	E	1122	K	E1122K	Pathogenic	1	3	10	63
MUT:ABCA4:Glu1271Gly	PROT:P78363	ABCA4	E	1271	G	E1271G	Pathogenic/Likely pathogenic	1	1	10	46
MUT:ABCA4:Glu1399Lys	PROT:P78363	ABCA4	E	1399	K	E1399K	Pathogenic/Likely pathogenic	1	2	10	82
MUT:ABCA4:Glu1520Gln	PROT:P78363	ABCA4	E	1520	Q	E1520Q	Likely pathogenic	1	1	10	11
MUT:ABCA4:Glu207Gln	PROT:P78363	ABCA4	E	207	Q	E207Q	Likely benign	0	1	10	69
MUT:ABCA4:Glu207Lys	PROT:P78363	ABCA4	E	207	K	E207K	Pathogenic/Likely pathogenic	1	1	10	69
MUT:ABCA4:Glu2096Gly	PROT:P78363	ABCA4	E	2096	G	E2096G	Pathogenic/Likely pathogenic	1	2	10	33
MUT:ABCA4:Glu2131Lys	PROT:P78363	ABCA4	E	2131	K	E2131K	Pathogenic/Likely pathogenic	1	2	10	29
MUT:ABCA4:Glu2233Val	PROT:P78363	ABCA4	E	2233	V	E2233V	Likely pathogenic	1	1	10	73
MUT:ABCA4:Glu328Lys	PROT:P78363	ABCA4	E	328	K	E328K	Likely pathogenic	1	1	10	190
MUT:ABCA4:Glu328Val	PROT:P78363	ABCA4	E	328	V	E328V	Pathogenic/Likely pathogenic	1	1	10	190
MUT:ABCA4:Glu518Ala	PROT:P78363	ABCA4	E	518	A	E518A	Likely pathogenic	1	1	10	380
MUT:ABCA4:Glu531Gly	PROT:P78363	ABCA4	E	531	G	E531G	Pathogenic/Likely pathogenic	1	1	10	370
MUT:ABCA4:Glu616Lys	PROT:P78363	ABCA4	E	616	K	E616K	Pathogenic/Likely pathogenic	1	3	10	285
MUT:ABCA4:Glu814Lys	PROT:P78363	ABCA4	E	814	K	E814K	Likely pathogenic	1	1	10	87
MUT:ABCA4:Gly1050Asp	PROT:P78363	ABCA4	G	1050	D	G1050D	Pathogenic/Likely pathogenic	1	1	10	135
MUT:ABCA4:Gly1091Glu	PROT:P78363	ABCA4	G	1091	E	G1091E	Likely pathogenic	1	3	10	94
MUT:ABCA4:Gly1127Glu	PROT:P78363	ABCA4	G	1127	E	G1127E	Pathogenic	1	1	10	58
MUT:ABCA4:Gly1136Glu	PROT:P78363	ABCA4	G	1136	E	G1136E	Pathogenic/Likely pathogenic	1	1	10	49
MUT:ABCA4:Gly1398Ser	PROT:P78363	ABCA4	G	1398	S	G1398S	Likely pathogenic	1	1	10	81
MUT:ABCA4:Gly1439Asp	PROT:P78363	ABCA4	G	1439	D	G1439D	Pathogenic/Likely pathogenic	1	2	10	92
MUT:ABCA4:Gly1507Arg	PROT:P78363	ABCA4	G	1507	R	G1507R	Pathogenic/Likely pathogenic	1	4	10	24
MUT:ABCA4:Gly1653Glu	PROT:P78363	ABCA4	G	1653	E	G1653E	Likely pathogenic	1	1	10	58
MUT:ABCA4:Gly1748Arg	PROT:P78363	ABCA4	G	1748	R	G1748R	Pathogenic/Likely pathogenic	1	1	10	153
MUT:ABCA4:Gly1771Arg	PROT:P78363	ABCA4	G	1771	R	G1771R	Pathogenic/Likely pathogenic	1	2	10	176
MUT:ABCA4:Gly1862Arg	PROT:P78363	ABCA4	G	1862	R	G1862R	Pathogenic	1	1	10	195
MUT:ABCA4:Gly1886Arg	PROT:P78363	ABCA4	G	1886	R	G1886R	Likely pathogenic	1	2	10	171
MUT:ABCA4:Gly1886Glu	PROT:P78363	ABCA4	G	1886	E	G1886E	Likely pathogenic	1	2	10	171
MUT:ABCA4:Gly1961Arg	PROT:P78363	ABCA4	G	1961	R	G1961R	Pathogenic/Likely pathogenic	1	3	10	96
MUT:ABCA4:Gly1961Glu	PROT:P78363	ABCA4	G	1961	E	G1961E	Pathogenic	1	16	10	96
MUT:ABCA4:Gly1975Arg	PROT:P78363	ABCA4	G	1975	R	G1975R	Pathogenic/Likely pathogenic	1	1	10	82
MUT:ABCA4:Gly1975Val	PROT:P78363	ABCA4	G	1975	V	G1975V	Likely pathogenic	1	1	10	82
MUT:ABCA4:Gly1977Arg	PROT:P78363	ABCA4	G	1977	R	G1977R	Likely pathogenic	1	1	10	80
MUT:ABCA4:Gly1977Ser	PROT:P78363	ABCA4	G	1977	S	G1977S	Pathogenic/Likely pathogenic	1	6	10	80
MUT:ABCA4:Gly2015Val	PROT:P78363	ABCA4	G	2015	V	G2015V	Likely pathogenic	1	1	10	42
MUT:ABCA4:Gly2041Asp	PROT:P78363	ABCA4	G	2041	D	G2041D	Pathogenic/Likely pathogenic	1	2	10	16
MUT:ABCA4:Gly2074Cys	PROT:P78363	ABCA4	G	2074	C	G2074C	Pathogenic	1	1	10	11
MUT:ABCA4:Gly2074Val	PROT:P78363	ABCA4	G	2074	V	G2074V	Pathogenic/Likely pathogenic	1	2	10	11
MUT:ABCA4:Gly2152Cys	PROT:P78363	ABCA4	G	2152	C	G2152C	Likely pathogenic	1	2	10	8
MUT:ABCA4:Gly2152Ser	PROT:P78363	ABCA4	G	2152	S	G2152S	Likely pathogenic	1	1	10	8
MUT:ABCA4:Gly550Arg	PROT:P78363	ABCA4	G	550	R	G550R	Pathogenic/Likely pathogenic	1	6	10	351
MUT:ABCA4:Gly607Arg	PROT:P78363	ABCA4	G	607	R	G607R	Pathogenic	1	7	10	294
MUT:ABCA4:Gly607Val	PROT:P78363	ABCA4	G	607	V	G607V	Likely pathogenic	1	1	10	294
MUT:ABCA4:Gly618Arg	PROT:P78363	ABCA4	G	618	R	G618R	Pathogenic	1	1	10	283
MUT:ABCA4:Gly618Glu	PROT:P78363	ABCA4	G	618	E	G618E	Likely pathogenic	1	1	10	283
MUT:ABCA4:Gly631Arg	PROT:P78363	ABCA4	G	631	R	G631R	Pathogenic/Likely pathogenic	1	2	10	270
MUT:ABCA4:Gly65Glu	PROT:P78363	ABCA4	G	65	E	G65E	Pathogenic/Likely pathogenic	1	2	10	73
MUT:ABCA4:Gly72Arg	PROT:P78363	ABCA4	G	72	R	G72R	Pathogenic/Likely pathogenic	1	5	10	66
MUT:ABCA4:Gly818Ala	PROT:P78363	ABCA4	G	818	A	G818A	Pathogenic	1	1	10	83
MUT:ABCA4:Gly818Glu	PROT:P78363	ABCA4	G	818	E	G818E	Pathogenic	1	4	10	83
MUT:ABCA4:Gly851Asp	PROT:P78363	ABCA4	G	851	D	G851D	Likely pathogenic	1	1	10	50
MUT:ABCA4:Gly978Asp	PROT:P78363	ABCA4	G	978	D	G978D	Likely pathogenic	1	1	10	77
MUT:ABCA4:Gly978Ser	PROT:P78363	ABCA4	G	978	S	G978S	Pathogenic/Likely pathogenic	1	1	10	77
MUT:ABCA4:Gly985Arg	PROT:P78363	ABCA4	G	985	R	G985R	Likely pathogenic	1	1	10	84
MUT:ABCA4:Gly991Val	PROT:P78363	ABCA4	G	991	V	G991V	Pathogenic/Likely pathogenic	1	1	10	90
MUT:ABCA4:His1118Tyr	PROT:P78363	ABCA4	H	1118	Y	H1118Y	Pathogenic/Likely pathogenic	1	1	10	67
MUT:ABCA4:His1406Arg	PROT:P78363	ABCA4	H	1406	R	H1406R	Pathogenic/Likely pathogenic	1	1	10	89
MUT:ABCA4:His1406Tyr	PROT:P78363	ABCA4	H	1406	Y	H1406Y	Pathogenic	1	1	10	89
MUT:ABCA4:His1625Tyr	PROT:P78363	ABCA4	H	1625	Y	H1625Y	Pathogenic/Likely pathogenic	1	2	10	30
MUT:ABCA4:His1838Arg	PROT:P78363	ABCA4	H	1838	R	H1838R	Pathogenic/Likely pathogenic	1	2	10	219
MUT:ABCA4:His1838Asn	PROT:P78363	ABCA4	H	1838	N	H1838N	Pathogenic/Likely pathogenic	1	2	10	219
MUT:ABCA4:His1838Asp	PROT:P78363	ABCA4	H	1838	D	H1838D	Pathogenic/Likely pathogenic	1	3	10	219
MUT:ABCA4:His1838Tyr	PROT:P78363	ABCA4	H	1838	Y	H1838Y	Pathogenic/Likely pathogenic	1	2	10	219
MUT:ABCA4:His2032Arg	PROT:P78363	ABCA4	H	2032	R	H2032R	Pathogenic/Likely pathogenic	1	2	10	25
MUT:ABCA4:His2128Arg	PROT:P78363	ABCA4	H	2128	R	H2128R	Pathogenic	1	3	10	32
MUT:ABCA4:His423Arg	PROT:P78363	ABCA4	H	423	R	H423R	Benign/Likely benign	0	2	10	285
MUT:ABCA4:His566Gln	PROT:P78363	ABCA4	H	566	Q	H566Q	Pathogenic	1	1	10	335
MUT:ABCA4:Ile1100Asn	PROT:P78363	ABCA4	I	1100	N	I1100N	Pathogenic	1	1	10	85
MUT:ABCA4:Ile1272Thr	PROT:P78363	ABCA4	I	1272	T	I1272T	Likely pathogenic	1	2	10	45
MUT:ABCA4:Ile1409Val	PROT:P78363	ABCA4	I	1409	V	I1409V	Pathogenic/Likely pathogenic	1	2	10	92
MUT:ABCA4:Ile1594Val	PROT:P78363	ABCA4	I	1594	V	I1594V	Likely benign	0	1	10	1
MUT:ABCA4:Ile1775Asn	PROT:P78363	ABCA4	I	1775	N	I1775N	Pathogenic/Likely pathogenic	1	2	10	180
MUT:ABCA4:Ile1812Asn	PROT:P78363	ABCA4	I	1812	N	I1812N	Likely pathogenic	1	1	10	217
MUT:ABCA4:Ile1812Val	PROT:P78363	ABCA4	I	1812	V	I1812V	Likely benign	0	1	10	217
MUT:ABCA4:Ile1846Thr	PROT:P78363	ABCA4	I	1846	T	I1846T	Pathogenic/Likely pathogenic	1	3	10	211
MUT:ABCA4:Ile2003Phe	PROT:P78363	ABCA4	I	2003	F	I2003F	Likely benign	0	1	10	54
MUT:ABCA4:Ile2113Met	PROT:P78363	ABCA4	I	2113	M	I2113M	Likely pathogenic	1	1	10	47
MUT:ABCA4:Ile240Arg	PROT:P78363	ABCA4	I	240	R	I240R	Likely pathogenic	1	1	10	102
MUT:ABCA4:Ile410Met	PROT:P78363	ABCA4	I	410	M	I410M	Pathogenic	1	1	10	272
MUT:ABCA4:Ile571Ser	PROT:P78363	ABCA4	I	571	S	I571S	Likely pathogenic	1	1	10	330
MUT:ABCA4:Ile958Asn	PROT:P78363	ABCA4	I	958	N	I958N	Likely pathogenic	1	1	10	57
MUT:ABCA4:Leu1014Arg	PROT:P78363	ABCA4	L	1014	R	L1014R	Pathogenic/Likely pathogenic	1	1	10	113
MUT:ABCA4:Leu1030Gln	PROT:P78363	ABCA4	L	1030	Q	L1030Q	Likely pathogenic	1	1	10	129
MUT:ABCA4:Leu1103Arg	PROT:P78363	ABCA4	L	1103	R	L1103R	Pathogenic	1	1	10	82
MUT:ABCA4:Leu1126Pro	PROT:P78363	ABCA4	L	1126	P	L1126P	Pathogenic	1	1	10	59
MUT:ABCA4:Leu1138His	PROT:P78363	ABCA4	L	1138	H	L1138H	Pathogenic/Likely pathogenic	1	1	10	47
MUT:ABCA4:Leu1138Pro	PROT:P78363	ABCA4	L	1138	P	L1138P	Pathogenic	1	2	10	47
MUT:ABCA4:Leu11Pro	PROT:P78363	ABCA4	L	11	P	L11P	Pathogenic	1	10	10	127
MUT:ABCA4:Leu1201Arg	PROT:P78363	ABCA4	L	1201	R	L1201R	Benign/Likely benign	0	4	10	16
MUT:ABCA4:Leu1250Pro	PROT:P78363	ABCA4	L	1250	P	L1250P	Likely pathogenic	1	1	10	65
MUT:ABCA4:Leu1388Pro	PROT:P78363	ABCA4	L	1388	P	L1388P	Pathogenic	1	1	10	71
MUT:ABCA4:Leu1430Pro	PROT:P78363	ABCA4	L	1430	P	L1430P	Pathogenic/Likely pathogenic	1	1	10	101
MUT:ABCA4:Leu1576Arg	PROT:P78363	ABCA4	L	1576	R	L1576R	Likely pathogenic	1	1	10	19
MUT:ABCA4:Leu1583Pro	PROT:P78363	ABCA4	L	1583	P	L1583P	Pathogenic/Likely pathogenic	1	3	10	12
MUT:ABCA4:Leu1627Pro	PROT:P78363	ABCA4	L	1627	P	L1627P	Likely pathogenic	1	1	10	32
MUT:ABCA4:Leu1631Pro	PROT:P78363	ABCA4	L	1631	P	L1631P	Likely pathogenic	1	1	10	36
MUT:ABCA4:Leu1729Pro	PROT:P78363	ABCA4	L	1729	P	L1729P	Pathogenic	1	2	10	134
MUT:ABCA4:Leu1763Pro	PROT:P78363	ABCA4	L	1763	P	L1763P	Pathogenic	1	1	10	168
MUT:ABCA4:Leu1784Arg	PROT:P78363	ABCA4	L	1784	R	L1784R	Pathogenic	1	1	10	189
MUT:ABCA4:Leu1784Pro	PROT:P78363	ABCA4	L	1784	P	L1784P	Pathogenic	1	1	10	189
MUT:ABCA4:Leu1850Pro	PROT:P78363	ABCA4	L	1850	P	L1850P	Pathogenic/Likely pathogenic	1	2	10	207
MUT:ABCA4:Leu1940Pro	PROT:P78363	ABCA4	L	1940	P	L1940P	Pathogenic/Likely pathogenic	1	5	10	117
MUT:ABCA4:Leu1970Pro	PROT:P78363	ABCA4	L	1970	P	L1970P	Likely pathogenic	1	2	10	87
MUT:ABCA4:Leu1971Arg	PROT:P78363	ABCA4	L	1971	R	L1971R	Pathogenic	1	1	10	86
MUT:ABCA4:Leu2026Pro	PROT:P78363	ABCA4	L	2026	P	L2026P	Pathogenic/Likely pathogenic	1	2	10	31
MUT:ABCA4:Leu2027Phe	PROT:P78363	ABCA4	L	2027	F	L2027F	Pathogenic/Likely pathogenic	1	8	10	30
MUT:ABCA4:Leu2033Arg	PROT:P78363	ABCA4	L	2033	R	L2033R	Pathogenic	1	3	10	24
MUT:ABCA4:Leu2033Pro	PROT:P78363	ABCA4	L	2033	P	L2033P	Pathogenic/Likely pathogenic	1	2	10	24
MUT:ABCA4:Leu2035Pro	PROT:P78363	ABCA4	L	2035	P	L2035P	Likely pathogenic	1	1	10	22
MUT:ABCA4:Leu2060Arg	PROT:P78363	ABCA4	L	2060	R	L2060R	Pathogenic	1	1	10	1
MUT:ABCA4:Leu2109Pro	PROT:P78363	ABCA4	L	2109	P	L2109P	Pathogenic/Likely pathogenic	1	2	10	46
MUT:ABCA4:Leu210Gln	PROT:P78363	ABCA4	L	210	Q	L210Q	Likely pathogenic	1	2	10	72
MUT:ABCA4:Leu2140Arg	PROT:P78363	ABCA4	L	2140	R	L2140R	Likely pathogenic	1	1	10	20
MUT:ABCA4:Leu2229Pro	PROT:P78363	ABCA4	L	2229	P	L2229P	Pathogenic/Likely pathogenic	1	3	10	69
MUT:ABCA4:Leu2241Pro	PROT:P78363	ABCA4	L	2241	P	L2241P	Pathogenic	1	1	10	81
MUT:ABCA4:Leu244Pro	PROT:P78363	ABCA4	L	244	P	L244P	Pathogenic/Likely pathogenic	1	1	10	106
MUT:ABCA4:Leu253His	PROT:P78363	ABCA4	L	253	H	L253H	Likely pathogenic	1	1	10	115
MUT:ABCA4:Leu29Arg	PROT:P78363	ABCA4	L	29	R	L29R	Likely pathogenic	1	2	10	109
MUT:ABCA4:Leu323Arg	PROT:P78363	ABCA4	L	323	R	L323R	Likely pathogenic	1	1	10	185
MUT:ABCA4:Leu455Gln	PROT:P78363	ABCA4	L	455	Q	L455Q	Pathogenic	1	1	10	317
MUT:ABCA4:Leu510Arg	PROT:P78363	ABCA4	L	510	R	L510R	Likely pathogenic	1	1	10	372
MUT:ABCA4:Leu510Ile	PROT:P78363	ABCA4	L	510	I	L510I	Likely pathogenic	1	1	10	372
MUT:ABCA4:Leu611Pro	PROT:P78363	ABCA4	L	611	P	L611P	Pathogenic/Likely pathogenic	1	2	10	290
MUT:ABCA4:Leu760Pro	PROT:P78363	ABCA4	L	760	P	L760P	Likely pathogenic	1	1	10	141
MUT:ABCA4:Leu844Arg	PROT:P78363	ABCA4	L	844	R	L844R	Likely pathogenic	1	2	10	57
MUT:ABCA4:Lys1978Glu	PROT:P78363	ABCA4	K	1978	E	K1978E	Pathogenic/Likely pathogenic	1	3	10	79
MUT:ABCA4:Lys2076Glu	PROT:P78363	ABCA4	K	2076	E	K2076E	Likely pathogenic	1	1	10	13
MUT:ABCA4:Lys2078Gln	PROT:P78363	ABCA4	K	2078	Q	K2078Q	Likely pathogenic	1	3	10	15
MUT:ABCA4:Lys2160Glu	PROT:P78363	ABCA4	K	2160	E	K2160E	Pathogenic/Likely pathogenic	1	2	10	0
MUT:ABCA4:Lys678Asn	PROT:P78363	ABCA4	K	678	N	K678N	Pathogenic/Likely pathogenic	1	1	10	223
MUT:ABCA4:Lys969Gln	PROT:P78363	ABCA4	K	969	Q	K969Q	Likely pathogenic	1	1	10	68
MUT:ABCA4:Lys969Glu	PROT:P78363	ABCA4	K	969	E	K969E	Pathogenic	1	1	10	68
MUT:ABCA4:Met1115Arg	PROT:P78363	ABCA4	M	1115	R	M1115R	Likely pathogenic	1	1	10	70
MUT:ABCA4:Met1209Thr	PROT:P78363	ABCA4	M	1209	T	M1209T	Benign/Likely benign	0	2	10	24
MUT:ABCA4:Met1690Thr	PROT:P78363	ABCA4	M	1690	T	M1690T	Likely pathogenic	1	1	10	95
MUT:ABCA4:Met1778Lys	PROT:P78363	ABCA4	M	1778	K	M1778K	Likely pathogenic	1	2	10	183
MUT:ABCA4:Met1882Ile	PROT:P78363	ABCA4	M	1882	I	M1882I	Pathogenic/Likely pathogenic	1	2	10	175
MUT:ABCA4:Met1Ile	PROT:P78363	ABCA4	M	1	I	M1I	Pathogenic	1	1	10	137
MUT:ABCA4:Met1Thr	PROT:P78363	ABCA4	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	10	137
MUT:ABCA4:Met1Val	PROT:P78363	ABCA4	M	1	V	M1V	Pathogenic	1	4	10	137
MUT:ABCA4:Met2143Lys	PROT:P78363	ABCA4	M	2143	K	M2143K	Likely pathogenic	1	1	10	17
MUT:ABCA4:Met448Val	PROT:P78363	ABCA4	M	448	V	M448V	Pathogenic/Likely pathogenic	1	1	10	310
MUT:ABCA4:Met573Ile	PROT:P78363	ABCA4	M	573	I	M573I	Likely pathogenic	1	3	10	328
MUT:ABCA4:Met61Ile	PROT:P78363	ABCA4	M	61	I	M61I	Pathogenic	1	1	10	77
MUT:ABCA4:Phe1440Ser	PROT:P78363	ABCA4	F	1440	S	F1440S	Pathogenic/Likely pathogenic	1	1	10	91
MUT:ABCA4:Phe1839Ser	PROT:P78363	ABCA4	F	1839	S	F1839S	Likely pathogenic	1	1	10	218
MUT:ABCA4:Phe2188Ser	PROT:P78363	ABCA4	F	2188	S	F2188S	Pathogenic	1	1	10	28
MUT:ABCA4:Phe418Ser	PROT:P78363	ABCA4	F	418	S	F418S	Pathogenic/Likely pathogenic	1	4	10	280
MUT:ABCA4:Phe503Ser	PROT:P78363	ABCA4	F	503	S	F503S	Likely pathogenic	1	1	10	365
MUT:ABCA4:Phe525Ser	PROT:P78363	ABCA4	F	525	S	F525S	Pathogenic/Likely pathogenic	1	1	10	376
MUT:ABCA4:Phe608Ile	PROT:P78363	ABCA4	F	608	I	F608I	Pathogenic/Likely pathogenic	1	5	10	293
MUT:ABCA4:Phe655Cys	PROT:P78363	ABCA4	F	655	C	F655C	Pathogenic/Likely pathogenic	1	3	10	246
MUT:ABCA4:Phe754Ser	PROT:P78363	ABCA4	F	754	S	F754S	Pathogenic/Likely pathogenic	1	2	10	147
MUT:ABCA4:Phe873Leu	PROT:P78363	ABCA4	F	873	L	F873L	Pathogenic	1	1	10	28
MUT:ABCA4:Phe938Ser	PROT:P78363	ABCA4	F	938	S	F938S	Pathogenic/Likely pathogenic	1	1	10	37
MUT:ABCA4:Pro1088Arg	PROT:P78363	ABCA4	P	1088	R	P1088R	Likely pathogenic	1	1	10	97
MUT:ABCA4:Pro1380Leu	PROT:P78363	ABCA4	P	1380	L	P1380L	Pathogenic	1	9	10	63
MUT:ABCA4:Pro1438Ala	PROT:P78363	ABCA4	P	1438	A	P1438A	Pathogenic/Likely pathogenic	1	1	10	93
MUT:ABCA4:Pro143Leu	PROT:P78363	ABCA4	P	143	L	P143L	Pathogenic/Likely pathogenic	1	2	10	5
MUT:ABCA4:Pro1486Leu	PROT:P78363	ABCA4	P	1486	L	P1486L	Pathogenic	1	6	10	45
MUT:ABCA4:Pro1511His	PROT:P78363	ABCA4	P	1511	H	P1511H	Likely pathogenic	1	2	10	20
MUT:ABCA4:Pro1660Leu	PROT:P78363	ABCA4	P	1660	L	P1660L	Pathogenic/Likely pathogenic	1	3	10	65
MUT:ABCA4:Pro1837Ala	PROT:P78363	ABCA4	P	1837	A	P1837A	Likely pathogenic	1	1	10	220
MUT:ABCA4:Pro1948Leu	PROT:P78363	ABCA4	P	1948	L	P1948L	Likely benign	0	5	10	109
MUT:ABCA4:Pro2097Ser	PROT:P78363	ABCA4	P	2097	S	P2097S	Pathogenic	1	3	10	34
MUT:ABCA4:Pro309Arg	PROT:P78363	ABCA4	P	309	R	P309R	Pathogenic/Likely pathogenic	1	2	10	171
MUT:ABCA4:Pro32Leu	PROT:P78363	ABCA4	P	32	L	P32L	Pathogenic	1	1	10	106
MUT:ABCA4:Pro402Ala	PROT:P78363	ABCA4	P	402	A	P402A	Likely pathogenic	1	1	10	264
MUT:ABCA4:Pro565His	PROT:P78363	ABCA4	P	565	H	P565H	Likely benign	0	1	10	336
MUT:ABCA4:Pro597Ser	PROT:P78363	ABCA4	P	597	S	P597S	Likely pathogenic	1	2	10	304
MUT:ABCA4:Pro62Ser	PROT:P78363	ABCA4	P	62	S	P62S	Likely pathogenic	1	2	10	76
MUT:ABCA4:Pro638Ser	PROT:P78363	ABCA4	P	638	S	P638S	Pathogenic	1	1	10	263
MUT:ABCA4:Pro640Ala	PROT:P78363	ABCA4	P	640	A	P640A	Likely pathogenic	1	2	10	261
MUT:ABCA4:Pro640Leu	PROT:P78363	ABCA4	P	640	L	P640L	Pathogenic/Likely pathogenic	1	2	10	261
MUT:ABCA4:Pro640Ser	PROT:P78363	ABCA4	P	640	S	P640S	Likely pathogenic	1	1	10	261
MUT:ABCA4:Pro640Thr	PROT:P78363	ABCA4	P	640	T	P640T	Likely pathogenic	1	1	10	261
MUT:ABCA4:Pro68Arg	PROT:P78363	ABCA4	P	68	R	P68R	Pathogenic/Likely pathogenic	1	3	10	70
MUT:ABCA4:Pro68Leu	PROT:P78363	ABCA4	P	68	L	P68L	Pathogenic	1	6	10	70
MUT:ABCA4:Pro799Leu	PROT:P78363	ABCA4	P	799	L	P799L	Pathogenic	1	2	10	102
MUT:ABCA4:Pro870Leu	PROT:P78363	ABCA4	P	870	L	P870L	Pathogenic/Likely pathogenic	1	4	10	31
MUT:ABCA4:Pro981Leu	PROT:P78363	ABCA4	P	981	L	P981L	Likely pathogenic	1	1	10	80
MUT:ABCA4:Ser100Pro	PROT:P78363	ABCA4	S	100	P	S100P	Pathogenic/Likely pathogenic	1	1	10	38
MUT:ABCA4:Ser1071Leu	PROT:P78363	ABCA4	S	1071	L	S1071L	Pathogenic	1	4	10	114
MUT:ABCA4:Ser1096Leu	PROT:P78363	ABCA4	S	1096	L	S1096L	Pathogenic/Likely pathogenic	1	2	10	89
MUT:ABCA4:Ser1689Pro	PROT:P78363	ABCA4	S	1689	P	S1689P	Pathogenic/Likely pathogenic	1	3	10	94
MUT:ABCA4:Ser1696Arg	PROT:P78363	ABCA4	S	1696	R	S1696R	Likely pathogenic	1	1	10	101
MUT:ABCA4:Ser1696Asn	PROT:P78363	ABCA4	S	1696	N	S1696N	Pathogenic/Likely pathogenic	1	2	10	101
MUT:ABCA4:Ser1789Arg	PROT:P78363	ABCA4	S	1789	R	S1789R	Likely pathogenic	1	1	10	194
MUT:ABCA4:Ser1993Pro	PROT:P78363	ABCA4	S	1993	P	S1993P	Likely pathogenic	1	1	10	64
MUT:ABCA4:Ser2255Ile	PROT:P78363	ABCA4	S	2255	I	S2255I	Benign	0	2	10	95
MUT:ABCA4:Ser336Cys	PROT:P78363	ABCA4	S	336	C	S336C	Pathogenic/Likely pathogenic	1	1	10	198
MUT:ABCA4:Ser445Arg	PROT:P78363	ABCA4	S	445	R	S445R	Pathogenic/Likely pathogenic	1	3	10	307
MUT:ABCA4:Ser752Arg	PROT:P78363	ABCA4	S	752	R	S752R	Likely pathogenic	1	1	10	149
MUT:ABCA4:Ser765Asn	PROT:P78363	ABCA4	S	765	N	S765N	Pathogenic/Likely pathogenic	1	2	10	136
MUT:ABCA4:Ser765Thr	PROT:P78363	ABCA4	S	765	T	S765T	Pathogenic	1	1	10	136
MUT:ABCA4:Ser795Arg	PROT:P78363	ABCA4	S	795	R	S795R	Likely pathogenic	1	1	10	106
MUT:ABCA4:Ser795Asn	PROT:P78363	ABCA4	S	795	N	S795N	Pathogenic/Likely pathogenic	1	1	10	106
MUT:ABCA4:Ser984Pro	PROT:P78363	ABCA4	S	984	P	S984P	Likely pathogenic	1	1	10	83
MUT:ABCA4:Thr1019Ala	PROT:P78363	ABCA4	T	1019	A	T1019A	Pathogenic/Likely pathogenic	1	1	10	118
MUT:ABCA4:Thr1019Met	PROT:P78363	ABCA4	T	1019	M	T1019M	Pathogenic	1	4	10	118
MUT:ABCA4:Thr1089Ile	PROT:P78363	ABCA4	T	1089	I	T1089I	Pathogenic	1	1	10	96
MUT:ABCA4:Thr1117Pro	PROT:P78363	ABCA4	T	1117	P	T1117P	Likely pathogenic	1	1	10	68
MUT:ABCA4:Thr1415Pro	PROT:P78363	ABCA4	T	1415	P	T1415P	Likely pathogenic	1	1	10	98
MUT:ABCA4:Thr1526Met	PROT:P78363	ABCA4	T	1526	M	T1526M	Pathogenic	1	8	10	5
MUT:ABCA4:Thr1979Ile	PROT:P78363	ABCA4	T	1979	I	T1979I	Pathogenic/Likely pathogenic	1	2	10	78
MUT:ABCA4:Thr1981Arg	PROT:P78363	ABCA4	T	1981	R	T1981R	Likely pathogenic	1	3	10	76
MUT:ABCA4:Thr2070Arg	PROT:P78363	ABCA4	T	2070	R	T2070R	Pathogenic/Likely pathogenic	1	1	10	7
MUT:ABCA4:Thr2240Ala	PROT:P78363	ABCA4	T	2240	A	T2240A	Pathogenic/Likely pathogenic	1	3	10	80
MUT:ABCA4:Thr401Ser	PROT:P78363	ABCA4	T	401	S	T401S	Likely benign	0	1	10	263
MUT:ABCA4:Thr581Asn	PROT:P78363	ABCA4	T	581	N	T581N	Likely pathogenic	1	1	10	320
MUT:ABCA4:Thr959Ala	PROT:P78363	ABCA4	T	959	A	T959A	Pathogenic/Likely pathogenic	1	4	10	58
MUT:ABCA4:Thr971Asn	PROT:P78363	ABCA4	T	971	N	T971N	Pathogenic/Likely pathogenic	1	2	10	70
MUT:ABCA4:Thr972Asn	PROT:P78363	ABCA4	T	972	N	T972N	Pathogenic/Likely pathogenic	1	3	10	71
MUT:ABCA4:Thr983Ala	PROT:P78363	ABCA4	T	983	A	T983A	Pathogenic/Likely pathogenic	1	3	10	82
MUT:ABCA4:Thr983Ile	PROT:P78363	ABCA4	T	983	I	T983I	Pathogenic/Likely pathogenic	1	1	10	82
MUT:ABCA4:Trp1449Cys	PROT:P78363	ABCA4	W	1449	C	W1449C	Likely pathogenic	1	2	10	82
MUT:ABCA4:Trp1461Cys	PROT:P78363	ABCA4	W	1461	C	W1461C	Pathogenic/Likely pathogenic	1	1	10	70
MUT:ABCA4:Trp1618Arg	PROT:P78363	ABCA4	W	1618	R	W1618R	Likely pathogenic	1	1	10	23
MUT:ABCA4:Trp1618Cys	PROT:P78363	ABCA4	W	1618	C	W1618C	Pathogenic/Likely pathogenic	1	3	10	23
MUT:ABCA4:Trp2110Arg	PROT:P78363	ABCA4	W	2110	R	W2110R	Likely pathogenic	1	1	10	47
MUT:ABCA4:Trp339Leu	PROT:P78363	ABCA4	W	339	L	W339L	Likely pathogenic	1	1	10	201
MUT:ABCA4:Trp499Arg	PROT:P78363	ABCA4	W	499	R	W499R	Likely pathogenic	1	1	10	361
MUT:ABCA4:Trp821Arg	PROT:P78363	ABCA4	W	821	R	W821R	Pathogenic	1	4	10	80
MUT:ABCA4:Tyr1557Cys	PROT:P78363	ABCA4	Y	1557	C	Y1557C	Pathogenic/Likely pathogenic	1	1	10	26
MUT:ABCA4:Tyr1779His	PROT:P78363	ABCA4	Y	1779	H	Y1779H	Likely pathogenic	1	1	10	184
MUT:ABCA4:Tyr1858Asn	PROT:P78363	ABCA4	Y	1858	N	Y1858N	Pathogenic/Likely pathogenic	1	3	10	199
MUT:ABCA4:Tyr340Asp	PROT:P78363	ABCA4	Y	340	D	Y340D	Pathogenic	1	1	10	202
MUT:ABCA4:Tyr340Cys	PROT:P78363	ABCA4	Y	340	C	Y340C	Likely pathogenic	1	1	10	202
MUT:ABCA4:Tyr340His	PROT:P78363	ABCA4	Y	340	H	Y340H	Pathogenic/Likely pathogenic	1	1	10	202
MUT:ABCA4:Tyr340Ser	PROT:P78363	ABCA4	Y	340	S	Y340S	Pathogenic/Likely pathogenic	1	2	10	202
MUT:ABCA4:Tyr345Cys	PROT:P78363	ABCA4	Y	345	C	Y345C	Pathogenic	1	2	10	207
MUT:ABCA4:Tyr603His	PROT:P78363	ABCA4	Y	603	H	Y603H	Pathogenic/Likely pathogenic	1	1	10	298
MUT:ABCA4:Tyr850Cys	PROT:P78363	ABCA4	Y	850	C	Y850C	Likely pathogenic	1	3	10	51
MUT:ABCA4:Tyr954Ser	PROT:P78363	ABCA4	Y	954	S	Y954S	Pathogenic/Likely pathogenic	1	1	10	53
MUT:ABCA4:Val1718Gly	PROT:P78363	ABCA4	V	1718	G	V1718G	Likely pathogenic	1	1	10	123
MUT:ABCA4:Val1793Met	PROT:P78363	ABCA4	V	1793	M	V1793M	Pathogenic/Likely pathogenic	1	1	10	198
MUT:ABCA4:Val1835Ile	PROT:P78363	ABCA4	V	1835	I	V1835I	Likely benign	0	1	10	222
MUT:ABCA4:Val1896Asp	PROT:P78363	ABCA4	V	1896	D	V1896D	Likely pathogenic	1	1	10	161
MUT:ABCA4:Val1921Met	PROT:P78363	ABCA4	V	1921	M	V1921M	Pathogenic/Likely pathogenic	1	1	10	136
MUT:ABCA4:Val2050Leu	PROT:P78363	ABCA4	V	2050	L	V2050L	Likely benign	0	15	10	7
MUT:ABCA4:Val2114Met	PROT:P78363	ABCA4	V	2114	M	V2114M	Likely benign	0	3	10	46
MUT:ABCA4:Val2244Glu	PROT:P78363	ABCA4	V	2244	E	V2244E	Likely pathogenic	1	1	10	84
MUT:ABCA4:Val552Ile	PROT:P78363	ABCA4	V	552	I	V552I	Benign/Likely benign	0	2	10	349
MUT:ABCA4:Val630Ile	PROT:P78363	ABCA4	V	630	I	V630I	Likely benign	0	1	10	271
MUT:ABCA4:Val675Ile	PROT:P78363	ABCA4	V	675	I	V675I	Pathogenic/Likely pathogenic	1	4	10	226
MUT:ABCA4:Val767Asp	PROT:P78363	ABCA4	V	767	D	V767D	Pathogenic/Likely pathogenic	1	4	10	134
MUT:ABCA4:Val860Ala	PROT:P78363	ABCA4	V	860	A	V860A	Pathogenic	1	1	10	41
MUT:ABCA4:Val935Ala	PROT:P78363	ABCA4	V	935	A	V935A	Pathogenic/Likely pathogenic	1	1	10	34
MUT:ABCA5:Ala1315Thr	PROT:Q8WWZ7	ABCA5	A	1315	T	A1315T	Likely benign	0	1	8	95
MUT:ABCA5:Ala178Thr	PROT:Q8WWZ7	ABCA5	A	178	T	A178T	Benign	0	1	8	41
MUT:ABCA5:Arg857Cys	PROT:Q8WWZ7	ABCA5	R	857	C	R857C	Likely pathogenic	1	1	8	193
MUT:ABCA5:Asn190Ser	PROT:Q8WWZ7	ABCA5	N	190	S	N190S	Likely benign	0	1	8	53
MUT:ABCA5:Asn768Asp	PROT:Q8WWZ7	ABCA5	N	768	D	N768D	Benign	0	1	8	160
MUT:ABCA5:Gln484Arg	PROT:Q8WWZ7	ABCA5	Q	484	R	Q484R	Benign	0	1	8	6
MUT:ABCA5:Ile871Thr	PROT:Q8WWZ7	ABCA5	I	871	T	I871T	Benign	0	1	8	179
MUT:ABCA5:Phe321Leu	PROT:Q8WWZ7	ABCA5	F	321	L	F321L	Benign	0	1	8	169
MUT:ABCA5:Ser118Phe	PROT:Q8WWZ7	ABCA5	S	118	F	S118F	Likely benign	0	1	8	16
MUT:ABCA5:Ser469Ala	PROT:Q8WWZ7	ABCA5	S	469	A	S469A	Benign	0	1	8	21
MUT:ABCA5:Thr1248Met	PROT:Q8WWZ7	ABCA5	T	1248	M	T1248M	Likely benign	0	1	8	162
MUT:ABCA7:Ala676Thr	PROT:Q8IZY2	ABCA7	A	676	T	A676T	Benign	0	1	1	1457
MUT:ABCA7:Arg1237His	PROT:Q8IZY2	ABCA7	R	1237	H	R1237H	Benign	0	1	1	896
MUT:ABCA7:Arg1349Trp	PROT:Q8IZY2	ABCA7	R	1349	W	R1349W	Likely benign	0	1	1	784
MUT:ABCA7:Arg463His	PROT:Q8IZY2	ABCA7	R	463	H	R463H	Benign	0	1	1	1670
MUT:ABCA7:Asn718Thr	PROT:Q8IZY2	ABCA7	N	718	T	N718T	Benign	0	1	1	1415
MUT:ABCA7:Asp964Glu	PROT:Q8IZY2	ABCA7	D	964	E	D964E	Likely benign	0	1	1	1169
MUT:ABCA7:Gln1686Arg	PROT:Q8IZY2	ABCA7	Q	1686	R	Q1686R	Benign	0	1	1	447
MUT:ABCA7:Gln758His	PROT:Q8IZY2	ABCA7	Q	758	H	Q758H	Benign	0	1	1	1375
MUT:ABCA7:Glu2108Lys	PROT:Q8IZY2	ABCA7	E	2108	K	E2108K	Benign	0	1	1	25
MUT:ABCA7:Gly1770Glu	PROT:Q8IZY2	ABCA7	G	1770	E	G1770E	Benign	0	1	1	363
MUT:ABCA7:Ile1690Thr	PROT:Q8IZY2	ABCA7	I	1690	T	I1690T	Likely benign	0	1	1	443
MUT:ABCA7:Met354Thr	PROT:Q8IZY2	ABCA7	M	354	T	M354T	Benign/Likely benign	0	1	1	1779
MUT:ABCA7:Phe2071Cys	PROT:Q8IZY2	ABCA7	F	2071	C	F2071C	Likely benign	0	1	1	62
MUT:ABCA7:Pro152Leu	PROT:Q8IZY2	ABCA7	P	152	L	P152L	Benign	0	1	1	1981
MUT:ABCA7:Ser1629Leu	PROT:Q8IZY2	ABCA7	S	1629	L	S1629L	Benign/Likely benign	0	2	1	504
MUT:ABCA7:Ser1723Leu	PROT:Q8IZY2	ABCA7	S	1723	L	S1723L	Benign	0	1	1	410
MUT:ABCA7:Val1599Met	PROT:Q8IZY2	ABCA7	V	1599	M	V1599M	Likely benign	0	1	1	534
MUT:ABCA7:Val1643Met	PROT:Q8IZY2	ABCA7	V	1643	M	V1643M	Likely benign	0	1	1	490
MUT:ABCB7:Ala580Val	PROT:O75027	ABCB7	A	580	V	A580V	Benign	0	1	7	20
MUT:ABCB7:Arg313Gln	PROT:O75027	ABCB7	R	313	Q	R313Q	Benign/Likely benign	0	2	7	97
MUT:ABCB7:Asp674Gly	PROT:O75027	ABCB7	D	674	G	D674G	Likely pathogenic	1	2	7	66
MUT:ABCB7:Gln67His	PROT:O75027	ABCB7	Q	67	H	Q67H	Benign	0	1	7	149
MUT:ABCB7:Glu208Asp	PROT:O75027	ABCB7	E	208	D	E208D	Pathogenic	1	1	7	8
MUT:ABCB7:Glu433Lys	PROT:O75027	ABCB7	E	433	K	E433K	Pathogenic	1	1	7	13
MUT:ABCB7:Gly682Ser	PROT:O75027	ABCB7	G	682	S	G682S	Likely pathogenic	1	1	7	61
MUT:ABCB7:Ile121Val	PROT:O75027	ABCB7	I	121	V	I121V	Likely benign	0	1	7	95
MUT:ABCB7:Ile392Val	PROT:O75027	ABCB7	I	392	V	I392V	Benign/Likely benign	0	2	7	54
MUT:ABCB7:Ile400Met	PROT:O75027	ABCB7	I	400	M	I400M	Pathogenic	1	1	7	46
MUT:ABCB7:Lys71Glu	PROT:O75027	ABCB7	K	71	E	K71E	Benign	0	1	7	145
MUT:ABCB7:Met412Thr	PROT:O75027	ABCB7	M	412	T	M412T	Likely pathogenic	1	1	7	34
MUT:ABCB7:Trp41Arg	PROT:O75027	ABCB7	W	41	R	W41R	Benign/Likely benign	0	1	7	175
MUT:ABCB7:Val411Leu	PROT:O75027	ABCB7	V	411	L	V411L	Pathogenic	1	1	7	35
MUT:ABCC11:Arg1335Cys	PROT:Q96J66	ABCC11	R	1335	C	R1335C	Benign	0	1	4	33
MUT:ABCC11:Gly180Arg	PROT:Q96J66	ABCC11	G	180	R	G180R	Benign	0	3	4	116
MUT:ABCC1:Ala1116Thr	PROT:P33527	ABCC1	A	1116	T	A1116T	Likely benign	0	1	40	71
MUT:ABCC1:Arg62Gln	PROT:P33527	ABCC1	R	62	Q	R62Q	Benign	0	1	40	10
MUT:ABCC1:Arg633Gln	PROT:P33527	ABCC1	R	633	Q	R633Q	Likely benign	0	1	40	3
MUT:ABCC1:Asn412Ser	PROT:P33527	ABCC1	N	412	S	N412S	Likely benign	0	1	40	4
MUT:ABCC1:Asn590Ser	PROT:P33527	ABCC1	N	590	S	N590S	Pathogenic	1	1	40	46
MUT:ABCC1:Gly1007Arg	PROT:P33527	ABCC1	G	1007	R	G1007R	Benign	0	1	40	46
MUT:ABCC1:Gly1103Asp	PROT:P33527	ABCC1	G	1103	D	G1103D	Likely benign	0	1	40	84
MUT:ABCC1:Gly639Trp	PROT:P33527	ABCC1	G	639	W	G639W	Likely benign	0	1	40	3
MUT:ABCC1:Pro285Leu	PROT:P33527	ABCC1	P	285	L	P285L	Likely benign	0	1	40	4
MUT:ABCC1:Ser92Phe	PROT:P33527	ABCC1	S	92	F	S92F	Benign	0	1	40	20
MUT:ABCC1:Thr1401Met	PROT:P33527	ABCC1	T	1401	M	T1401M	Likely benign	0	1	40	68
MUT:ABCC1:Val1481Ile	PROT:P33527	ABCC1	V	1481	I	V1481I	Benign	0	1	40	41
MUT:ABCC4:Lys304Asn	PROT:O15439	ABCC4	K	304	N	K304N	Benign	0	2	29	5
MUT:ABCC4:Pro403Leu	PROT:O15439	ABCC4	P	403	L	P403L	Likely benign	0	1	29	1
MUT:ABCC4:Val381Ile	PROT:O15439	ABCC4	V	381	I	V381I	Likely benign	0	1	29	23
MUT:ABCD1:Ala100Thr	PROT:P33897	ABCD1	A	100	T	A100T	Likely benign	0	1	19	42
MUT:ABCD1:Ala119Ser	PROT:P33897	ABCD1	A	119	S	A119S	Likely benign	0	1	19	61
MUT:ABCD1:Ala129Asp	PROT:P33897	ABCD1	A	129	D	A129D	Likely benign	0	1	19	51
MUT:ABCD1:Ala141Thr	PROT:P33897	ABCD1	A	141	T	A141T	Pathogenic	1	1	19	39
MUT:ABCD1:Ala141Val	PROT:P33897	ABCD1	A	141	V	A141V	Pathogenic/Likely pathogenic	1	1	19	39
MUT:ABCD1:Ala144Thr	PROT:P33897	ABCD1	A	144	T	A144T	Likely pathogenic	1	1	19	36
MUT:ABCD1:Ala159Gly	PROT:P33897	ABCD1	A	159	G	A159G	Benign	0	1	19	21
MUT:ABCD1:Ala159Thr	PROT:P33897	ABCD1	A	159	T	A159T	Benign	0	1	19	21
MUT:ABCD1:Ala170Asp	PROT:P33897	ABCD1	A	170	D	A170D	Likely pathogenic	1	1	19	10
MUT:ABCD1:Ala223Asp	PROT:P33897	ABCD1	A	223	D	A223D	Likely pathogenic	1	2	19	41
MUT:ABCD1:Ala223Val	PROT:P33897	ABCD1	A	223	V	A223V	Likely benign	0	1	19	41
MUT:ABCD1:Ala396Glu	PROT:P33897	ABCD1	A	396	E	A396E	Likely pathogenic	1	1	19	11
MUT:ABCD1:Ala396Pro	PROT:P33897	ABCD1	A	396	P	A396P	Likely pathogenic	1	1	19	11
MUT:ABCD1:Ala396Thr	PROT:P33897	ABCD1	A	396	T	A396T	Likely pathogenic	1	1	19	11
MUT:ABCD1:Ala443Thr	PROT:P33897	ABCD1	A	443	T	A443T	Benign	0	1	19	27
MUT:ABCD1:Ala57Thr	PROT:P33897	ABCD1	A	57	T	A57T	Likely benign	0	1	19	1
MUT:ABCD1:Ala61Thr	PROT:P33897	ABCD1	A	61	T	A61T	Benign/Likely benign	0	1	19	3
MUT:ABCD1:Ala626Thr	PROT:P33897	ABCD1	A	626	T	A626T	Pathogenic/Likely pathogenic	1	1	19	16
MUT:ABCD1:Ala626Val	PROT:P33897	ABCD1	A	626	V	A626V	Pathogenic	1	1	19	16
MUT:ABCD1:Ala62Val	PROT:P33897	ABCD1	A	62	V	A62V	Likely benign	0	1	19	4
MUT:ABCD1:Ala647Ser	PROT:P33897	ABCD1	A	647	S	A647S	Likely pathogenic	1	1	19	33
MUT:ABCD1:Arg104Cys	PROT:P33897	ABCD1	R	104	C	R104C	Pathogenic/Likely pathogenic	1	1	19	46
MUT:ABCD1:Arg104His	PROT:P33897	ABCD1	R	104	H	R104H	Pathogenic/Likely pathogenic	1	1	19	46
MUT:ABCD1:Arg104Pro	PROT:P33897	ABCD1	R	104	P	R104P	Likely pathogenic	1	1	19	46
MUT:ABCD1:Arg113Pro	PROT:P33897	ABCD1	R	113	P	R113P	Likely pathogenic	1	1	19	55
MUT:ABCD1:Arg120Pro	PROT:P33897	ABCD1	R	120	P	R120P	Likely pathogenic	1	1	19	60
MUT:ABCD1:Arg152Cys	PROT:P33897	ABCD1	R	152	C	R152C	Pathogenic/Likely pathogenic	1	1	19	28
MUT:ABCD1:Arg152Gly	PROT:P33897	ABCD1	R	152	G	R152G	Pathogenic	1	1	19	28
MUT:ABCD1:Arg152His	PROT:P33897	ABCD1	R	152	H	R152H	Likely pathogenic	1	1	19	28
MUT:ABCD1:Arg152Pro	PROT:P33897	ABCD1	R	152	P	R152P	Pathogenic/Likely pathogenic	1	1	19	28
MUT:ABCD1:Arg152Ser	PROT:P33897	ABCD1	R	152	S	R152S	Likely pathogenic	1	1	19	28
MUT:ABCD1:Arg163Cys	PROT:P33897	ABCD1	R	163	C	R163C	Pathogenic/Likely pathogenic	1	1	19	17
MUT:ABCD1:Arg163Gly	PROT:P33897	ABCD1	R	163	G	R163G	Likely pathogenic	1	1	19	17
MUT:ABCD1:Arg163His	PROT:P33897	ABCD1	R	163	H	R163H	Pathogenic/Likely pathogenic	1	2	19	17
MUT:ABCD1:Arg163Leu	PROT:P33897	ABCD1	R	163	L	R163L	Likely pathogenic	1	1	19	17
MUT:ABCD1:Arg163Pro	PROT:P33897	ABCD1	R	163	P	R163P	Pathogenic	1	1	19	17
MUT:ABCD1:Arg163Ser	PROT:P33897	ABCD1	R	163	S	R163S	Likely pathogenic	1	1	19	17
MUT:ABCD1:Arg172Cys	PROT:P33897	ABCD1	R	172	C	R172C	Likely benign	0	1	19	8
MUT:ABCD1:Arg172His	PROT:P33897	ABCD1	R	172	H	R172H	Likely benign	0	1	19	8
MUT:ABCD1:Arg17His	PROT:P33897	ABCD1	R	17	H	R17H	Likely benign	0	1	19	41
MUT:ABCD1:Arg189Trp	PROT:P33897	ABCD1	R	189	W	R189W	Pathogenic/Likely pathogenic	1	1	19	8
MUT:ABCD1:Arg191His	PROT:P33897	ABCD1	R	191	H	R191H	Likely benign	0	1	19	10
MUT:ABCD1:Arg231Trp	PROT:P33897	ABCD1	R	231	W	R231W	Benign	0	2	19	33
MUT:ABCD1:Arg234His	PROT:P33897	ABCD1	R	234	H	R234H	Likely benign	0	1	19	30
MUT:ABCD1:Arg236Cys	PROT:P33897	ABCD1	R	236	C	R236C	Likely benign	0	1	19	28
MUT:ABCD1:Arg275Gln	PROT:P33897	ABCD1	R	275	Q	R275Q	Likely pathogenic	1	1	19	6
MUT:ABCD1:Arg280Cys	PROT:P33897	ABCD1	R	280	C	R280C	Pathogenic/Likely pathogenic	1	3	19	1
MUT:ABCD1:Arg285Gly	PROT:P33897	ABCD1	R	285	G	R285G	Pathogenic	1	1	19	1
MUT:ABCD1:Arg308His	PROT:P33897	ABCD1	R	308	H	R308H	Likely benign	0	1	19	24
MUT:ABCD1:Arg381His	PROT:P33897	ABCD1	R	381	H	R381H	Likely benign	0	1	19	26
MUT:ABCD1:Arg389Cys	PROT:P33897	ABCD1	R	389	C	R389C	Likely pathogenic	1	1	19	18
MUT:ABCD1:Arg389Gly	PROT:P33897	ABCD1	R	389	G	R389G	Pathogenic	1	1	19	18
MUT:ABCD1:Arg389His	PROT:P33897	ABCD1	R	389	H	R389H	Pathogenic/Likely pathogenic	1	2	19	18
MUT:ABCD1:Arg401Gln	PROT:P33897	ABCD1	R	401	Q	R401Q	Pathogenic	1	1	19	6
MUT:ABCD1:Arg401Leu	PROT:P33897	ABCD1	R	401	L	R401L	Likely pathogenic	1	1	19	6
MUT:ABCD1:Arg401Trp	PROT:P33897	ABCD1	R	401	W	R401W	Pathogenic	1	1	19	6
MUT:ABCD1:Arg418Gly	PROT:P33897	ABCD1	R	418	G	R418G	Likely pathogenic	1	1	19	2
MUT:ABCD1:Arg418Pro	PROT:P33897	ABCD1	R	418	P	R418P	Pathogenic	1	1	19	2
MUT:ABCD1:Arg418Trp	PROT:P33897	ABCD1	R	418	W	R418W	Pathogenic/Likely pathogenic	1	1	19	2
MUT:ABCD1:Arg431Cys	PROT:P33897	ABCD1	R	431	C	R431C	Likely benign	0	1	19	15
MUT:ABCD1:Arg431His	PROT:P33897	ABCD1	R	431	H	R431H	Likely benign	0	1	19	15
MUT:ABCD1:Arg452Trp	PROT:P33897	ABCD1	R	452	W	R452W	Benign/Likely benign	0	1	19	36
MUT:ABCD1:Arg456Cys	PROT:P33897	ABCD1	R	456	C	R456C	Benign/Likely benign	0	1	19	40
MUT:ABCD1:Arg456His	PROT:P33897	ABCD1	R	456	H	R456H	Benign/Likely benign	0	1	19	40
MUT:ABCD1:Arg456Pro	PROT:P33897	ABCD1	R	456	P	R456P	Likely benign	0	1	19	40
MUT:ABCD1:Arg464Gln	PROT:P33897	ABCD1	R	464	Q	R464Q	Benign/Likely benign	0	1	19	48
MUT:ABCD1:Arg518Gln	PROT:P33897	ABCD1	R	518	Q	R518Q	Pathogenic	1	2	19	15
MUT:ABCD1:Arg518Gly	PROT:P33897	ABCD1	R	518	G	R518G	Pathogenic	1	1	19	15
MUT:ABCD1:Arg518Trp	PROT:P33897	ABCD1	R	518	W	R518W	Pathogenic/Likely pathogenic	1	2	19	15
MUT:ABCD1:Arg538Cys	PROT:P33897	ABCD1	R	538	C	R538C	Likely benign	0	1	19	5
MUT:ABCD1:Arg554His	PROT:P33897	ABCD1	R	554	H	R554H	Pathogenic	1	2	19	15
MUT:ABCD1:Arg554Ser	PROT:P33897	ABCD1	R	554	S	R554S	Likely pathogenic	1	1	19	15
MUT:ABCD1:Arg591Gln	PROT:P33897	ABCD1	R	591	Q	R591Q	Pathogenic/Likely pathogenic	1	2	19	11
MUT:ABCD1:Arg591Pro	PROT:P33897	ABCD1	R	591	P	R591P	Likely pathogenic	1	1	19	11
MUT:ABCD1:Arg591Trp	PROT:P33897	ABCD1	R	591	W	R591W	Pathogenic/Likely pathogenic	1	1	19	11
MUT:ABCD1:Arg617Cys	PROT:P33897	ABCD1	R	617	C	R617C	Pathogenic/Likely pathogenic	1	1	19	7
MUT:ABCD1:Arg617Gly	PROT:P33897	ABCD1	R	617	G	R617G	Pathogenic	1	1	19	7
MUT:ABCD1:Arg617His	PROT:P33897	ABCD1	R	617	H	R617H	Pathogenic	1	1	19	7
MUT:ABCD1:Arg660Leu	PROT:P33897	ABCD1	R	660	L	R660L	Pathogenic	1	1	19	20
MUT:ABCD1:Arg660Trp	PROT:P33897	ABCD1	R	660	W	R660W	Pathogenic	1	2	19	20
MUT:ABCD1:Arg74Leu	PROT:P33897	ABCD1	R	74	L	R74L	Likely pathogenic	1	1	19	16
MUT:ABCD1:Arg74Trp	PROT:P33897	ABCD1	R	74	W	R74W	Likely pathogenic	1	1	19	16
MUT:ABCD1:Arg89Gln	PROT:P33897	ABCD1	R	89	Q	R89Q	Likely benign	0	1	19	31
MUT:ABCD1:Arg89Trp	PROT:P33897	ABCD1	R	89	W	R89W	Benign	0	1	19	31
MUT:ABCD1:Asn13Thr	PROT:P33897	ABCD1	N	13	T	N13T	Benign/Likely benign	0	1	19	45
MUT:ABCD1:Asn148Asp	PROT:P33897	ABCD1	N	148	D	N148D	Pathogenic/Likely pathogenic	1	1	19	32
MUT:ABCD1:Asn148Ser	PROT:P33897	ABCD1	N	148	S	N148S	Pathogenic/Likely pathogenic	1	1	19	32
MUT:ABCD1:Asn148Tyr	PROT:P33897	ABCD1	N	148	Y	N148Y	Likely pathogenic	1	1	19	32
MUT:ABCD1:Asn318Ile	PROT:P33897	ABCD1	N	318	I	N318I	Likely pathogenic	1	1	19	19
MUT:ABCD1:Asp194Asn	PROT:P33897	ABCD1	D	194	N	D194N	Likely pathogenic	1	1	19	13
MUT:ABCD1:Asp194Val	PROT:P33897	ABCD1	D	194	V	D194V	Likely pathogenic	1	1	19	13
MUT:ABCD1:Asp200Asn	PROT:P33897	ABCD1	D	200	N	D200N	Pathogenic	1	1	19	19
MUT:ABCD1:Asp221Ala	PROT:P33897	ABCD1	D	221	A	D221A	Likely pathogenic	1	1	19	40
MUT:ABCD1:Asp221Asn	PROT:P33897	ABCD1	D	221	N	D221N	Likely pathogenic	1	1	19	40
MUT:ABCD1:Asp312Gly	PROT:P33897	ABCD1	D	312	G	D312G	Likely pathogenic	1	1	19	25
MUT:ABCD1:Asp442Glu	PROT:P33897	ABCD1	D	442	E	D442E	Likely benign	0	1	19	26
MUT:ABCD1:Asp629Val	PROT:P33897	ABCD1	D	629	V	D629V	Likely pathogenic	1	1	19	19
MUT:ABCD1:Cys432Tyr	PROT:P33897	ABCD1	C	432	Y	C432Y	Likely benign	0	1	19	16
MUT:ABCD1:Cys511Arg	PROT:P33897	ABCD1	C	511	R	C511R	Likely pathogenic	1	1	19	22
MUT:ABCD1:Cys631Arg	PROT:P33897	ABCD1	C	631	R	C631R	Pathogenic	1	1	19	21
MUT:ABCD1:Cys631Tyr	PROT:P33897	ABCD1	C	631	Y	C631Y	Pathogenic	1	1	19	21
MUT:ABCD1:Gln544Arg	PROT:P33897	ABCD1	Q	544	R	Q544R	Likely pathogenic	1	1	19	11
MUT:ABCD1:Gln556Arg	PROT:P33897	ABCD1	Q	556	R	Q556R	Pathogenic	1	1	19	13
MUT:ABCD1:Gln567Arg	PROT:P33897	ABCD1	Q	567	R	Q567R	Likely benign	0	1	19	2
MUT:ABCD1:Gln611Glu	PROT:P33897	ABCD1	Q	611	E	Q611E	Likely pathogenic	1	1	19	1
MUT:ABCD1:Gln611His	PROT:P33897	ABCD1	Q	611	H	Q611H	Pathogenic/Likely pathogenic	1	1	19	1
MUT:ABCD1:Glu291Ala	PROT:P33897	ABCD1	E	291	A	E291A	Pathogenic	1	1	19	7
MUT:ABCD1:Glu291Asp	PROT:P33897	ABCD1	E	291	D	E291D	Pathogenic/Likely pathogenic	1	1	19	7
MUT:ABCD1:Glu291Lys	PROT:P33897	ABCD1	E	291	K	E291K	Pathogenic	1	1	19	7
MUT:ABCD1:Glu292Asp	PROT:P33897	ABCD1	E	292	D	E292D	Pathogenic	1	1	19	8
MUT:ABCD1:Glu302Asp	PROT:P33897	ABCD1	E	302	D	E302D	Likely pathogenic	1	1	19	18
MUT:ABCD1:Glu302Lys	PROT:P33897	ABCD1	E	302	K	E302K	Pathogenic	1	1	19	18
MUT:ABCD1:Glu302Met	PROT:P33897	ABCD1	E	302	M	E302M	Likely pathogenic	1	1	19	18
MUT:ABCD1:Glu331Val	PROT:P33897	ABCD1	E	331	V	E331V	Likely pathogenic	1	1	19	6
MUT:ABCD1:Glu374Lys	PROT:P33897	ABCD1	E	374	K	E374K	Benign	0	1	19	33
MUT:ABCD1:Glu376Gln	PROT:P33897	ABCD1	E	376	Q	E376Q	Benign	0	1	19	31
MUT:ABCD1:Glu477Lys	PROT:P33897	ABCD1	E	477	K	E477K	Likely benign	0	1	19	56
MUT:ABCD1:Glu609Gly	PROT:P33897	ABCD1	E	609	G	E609G	Pathogenic	1	1	19	1
MUT:ABCD1:Glu609Lys	PROT:P33897	ABCD1	E	609	K	E609K	Pathogenic	1	2	19	1
MUT:ABCD1:Glu640Gly	PROT:P33897	ABCD1	E	640	G	E640G	Likely pathogenic	1	1	19	30
MUT:ABCD1:Glu640Lys	PROT:P33897	ABCD1	E	640	K	E640K	Pathogenic	1	1	19	30
MUT:ABCD1:Gly116Arg	PROT:P33897	ABCD1	G	116	R	G116R	Pathogenic/Likely pathogenic	1	2	19	58
MUT:ABCD1:Gly239Ser	PROT:P33897	ABCD1	G	239	S	G239S	Likely benign	0	1	19	25
MUT:ABCD1:Gly266Ala	PROT:P33897	ABCD1	G	266	A	G266A	Likely pathogenic	1	1	19	2
MUT:ABCD1:Gly266Arg	PROT:P33897	ABCD1	G	266	R	G266R	Pathogenic	1	2	19	2
MUT:ABCD1:Gly266Glu	PROT:P33897	ABCD1	G	266	E	G266E	Pathogenic	1	1	19	2
MUT:ABCD1:Gly277Ala	PROT:P33897	ABCD1	G	277	A	G277A	Likely pathogenic	1	1	19	4
MUT:ABCD1:Gly277Arg	PROT:P33897	ABCD1	G	277	R	G277R	Pathogenic/Likely pathogenic	1	1	19	4
MUT:ABCD1:Gly277Trp	PROT:P33897	ABCD1	G	277	W	G277W	Pathogenic/Likely pathogenic	1	1	19	4
MUT:ABCD1:Gly277Val	PROT:P33897	ABCD1	G	277	V	G277V	Likely pathogenic	1	1	19	4
MUT:ABCD1:Gly298Asp	PROT:P33897	ABCD1	G	298	D	G298D	Pathogenic/Likely pathogenic	1	1	19	14
MUT:ABCD1:Gly298Cys	PROT:P33897	ABCD1	G	298	C	G298C	Likely pathogenic	1	1	19	14
MUT:ABCD1:Gly298Ser	PROT:P33897	ABCD1	G	298	S	G298S	Pathogenic/Likely pathogenic	1	1	19	14
MUT:ABCD1:Gly343Arg	PROT:P33897	ABCD1	G	343	R	G343R	Likely pathogenic	1	1	19	6
MUT:ABCD1:Gly343Asp	PROT:P33897	ABCD1	G	343	D	G343D	Pathogenic	1	1	19	6
MUT:ABCD1:Gly343Val	PROT:P33897	ABCD1	G	343	V	G343V	Pathogenic	1	1	19	6
MUT:ABCD1:Gly414Asp	PROT:P33897	ABCD1	G	414	D	G414D	Likely pathogenic	1	1	19	2
MUT:ABCD1:Gly486Arg	PROT:P33897	ABCD1	G	486	R	G486R	Benign/Likely benign	0	1	19	47
MUT:ABCD1:Gly507Asp	PROT:P33897	ABCD1	G	507	D	G507D	Pathogenic	1	1	19	26
MUT:ABCD1:Gly507Ser	PROT:P33897	ABCD1	G	507	S	G507S	Pathogenic	1	1	19	26
MUT:ABCD1:Gly510Asp	PROT:P33897	ABCD1	G	510	D	G510D	Pathogenic/Likely pathogenic	1	1	19	23
MUT:ABCD1:Gly510Ser	PROT:P33897	ABCD1	G	510	S	G510S	Likely pathogenic	1	1	19	23
MUT:ABCD1:Gly512Ser	PROT:P33897	ABCD1	G	512	S	G512S	Pathogenic/Likely pathogenic	1	2	19	21
MUT:ABCD1:Gly512Val	PROT:P33897	ABCD1	G	512	V	G512V	Likely pathogenic	1	1	19	21
MUT:ABCD1:Gly51Arg	PROT:P33897	ABCD1	G	51	R	G51R	Likely benign	0	1	19	7
MUT:ABCD1:Gly529Asp	PROT:P33897	ABCD1	G	529	D	G529D	Likely pathogenic	1	1	19	4
MUT:ABCD1:Gly529Val	PROT:P33897	ABCD1	G	529	V	G529V	Likely pathogenic	1	1	19	4
MUT:ABCD1:Gly594Arg	PROT:P33897	ABCD1	G	594	R	G594R	Pathogenic	1	1	19	8
MUT:ABCD1:Gly608Ala	PROT:P33897	ABCD1	G	608	A	G608A	Likely pathogenic	1	1	19	2
MUT:ABCD1:Gly608Ser	PROT:P33897	ABCD1	G	608	S	G608S	Pathogenic/Likely pathogenic	1	1	19	2
MUT:ABCD1:His283Arg	PROT:P33897	ABCD1	H	283	R	H283R	Pathogenic	1	1	19	1
MUT:ABCD1:His283Asp	PROT:P33897	ABCD1	H	283	D	H283D	Pathogenic	1	1	19	1
MUT:ABCD1:His283Tyr	PROT:P33897	ABCD1	H	283	Y	H283Y	Likely pathogenic	1	1	19	1
MUT:ABCD1:His420Pro	PROT:P33897	ABCD1	H	420	P	H420P	Likely pathogenic	1	1	19	4
MUT:ABCD1:His659Arg	PROT:P33897	ABCD1	H	659	R	H659R	Likely pathogenic	1	1	19	21
MUT:ABCD1:His667Asp	PROT:P33897	ABCD1	H	667	D	H667D	Pathogenic	1	1	19	13
MUT:ABCD1:His669Arg	PROT:P33897	ABCD1	H	669	R	H669R	Pathogenic	1	1	19	11
MUT:ABCD1:His97Arg	PROT:P33897	ABCD1	H	97	R	H97R	Pathogenic/Likely pathogenic	1	2	19	39
MUT:ABCD1:His97Pro	PROT:P33897	ABCD1	H	97	P	H97P	Pathogenic	1	1	19	39
MUT:ABCD1:Ile293Thr	PROT:P33897	ABCD1	I	293	T	I293T	Likely pathogenic	1	1	19	9
MUT:ABCD1:Ile450Met	PROT:P33897	ABCD1	I	450	M	I450M	Likely benign	0	1	19	34
MUT:ABCD1:Ile450Val	PROT:P33897	ABCD1	I	450	V	I450V	Likely benign	0	1	19	34
MUT:ABCD1:Ile481Thr	PROT:P33897	ABCD1	I	481	T	I481T	Likely pathogenic	1	1	19	52
MUT:ABCD1:Ile495Asn	PROT:P33897	ABCD1	I	495	N	I495N	Likely pathogenic	1	1	19	38
MUT:ABCD1:Ile558Thr	PROT:P33897	ABCD1	I	558	T	I558T	Likely pathogenic	1	1	19	11
MUT:ABCD1:Leu107Pro	PROT:P33897	ABCD1	L	107	P	L107P	Likely pathogenic	1	1	19	49
MUT:ABCD1:Leu114Pro	PROT:P33897	ABCD1	L	114	P	L114P	Pathogenic/Likely pathogenic	1	1	19	56
MUT:ABCD1:Leu142Val	PROT:P33897	ABCD1	L	142	V	L142V	Benign/Likely benign	0	1	19	38
MUT:ABCD1:Leu190Pro	PROT:P33897	ABCD1	L	190	P	L190P	Likely pathogenic	1	1	19	9
MUT:ABCD1:Leu211Arg	PROT:P33897	ABCD1	L	211	R	L211R	Pathogenic	1	1	19	30
MUT:ABCD1:Leu220Arg	PROT:P33897	ABCD1	L	220	R	L220R	Likely pathogenic	1	1	19	39
MUT:ABCD1:Leu220Pro	PROT:P33897	ABCD1	L	220	P	L220P	Pathogenic	1	1	19	39
MUT:ABCD1:Leu229Pro	PROT:P33897	ABCD1	L	229	P	L229P	Pathogenic	1	1	19	35
MUT:ABCD1:Leu253Val	PROT:P33897	ABCD1	L	253	V	L253V	Benign/Likely benign	0	1	19	11
MUT:ABCD1:Leu279Pro	PROT:P33897	ABCD1	L	279	P	L279P	Likely pathogenic	1	1	19	2
MUT:ABCD1:Leu306Arg	PROT:P33897	ABCD1	L	306	R	L306R	Likely pathogenic	1	1	19	22
MUT:ABCD1:Leu313Pro	PROT:P33897	ABCD1	L	313	P	L313P	Likely pathogenic	1	1	19	24
MUT:ABCD1:Leu322Pro	PROT:P33897	ABCD1	L	322	P	L322P	Pathogenic	1	1	19	15
MUT:ABCD1:Leu493His	PROT:P33897	ABCD1	L	493	H	L493H	Likely pathogenic	1	1	19	40
MUT:ABCD1:Leu493Pro	PROT:P33897	ABCD1	L	493	P	L493P	Likely pathogenic	1	1	19	40
MUT:ABCD1:Leu503Pro	PROT:P33897	ABCD1	L	503	P	L503P	Likely pathogenic	1	1	19	30
MUT:ABCD1:Leu516Pro	PROT:P33897	ABCD1	L	516	P	L516P	Likely pathogenic	1	1	19	17
MUT:ABCD1:Leu523Phe	PROT:P33897	ABCD1	L	523	F	L523F	Pathogenic	1	1	19	10
MUT:ABCD1:Leu654Gln	PROT:P33897	ABCD1	L	654	Q	L654Q	Likely pathogenic	1	1	19	26
MUT:ABCD1:Leu654Pro	PROT:P33897	ABCD1	L	654	P	L654P	Pathogenic	1	1	19	26
MUT:ABCD1:Leu684Pro	PROT:P33897	ABCD1	L	684	P	L684P	Likely pathogenic	1	1	19	1
MUT:ABCD1:Lys217Asn	PROT:P33897	ABCD1	K	217	N	K217N	Likely pathogenic	1	1	19	36
MUT:ABCD1:Lys336Glu	PROT:P33897	ABCD1	K	336	E	K336E	Likely pathogenic	1	1	19	1
MUT:ABCD1:Lys373Glu	PROT:P33897	ABCD1	K	373	E	K373E	Benign	0	2	19	34
MUT:ABCD1:Lys533Gln	PROT:P33897	ABCD1	K	533	Q	K533Q	Pathogenic/Likely pathogenic	1	1	19	0
MUT:ABCD1:Lys533Glu	PROT:P33897	ABCD1	K	533	E	K533E	Likely pathogenic	1	1	19	0
MUT:ABCD1:Met1Val	PROT:P33897	ABCD1	M	1	V	M1V	Pathogenic	1	1	19	57
MUT:ABCD1:Met501Leu	PROT:P33897	ABCD1	M	501	L	M501L	Likely pathogenic	1	1	19	32
MUT:ABCD1:Met539Ile	PROT:P33897	ABCD1	M	539	I	M539I	Likely benign	0	1	19	6
MUT:ABCD1:Met539Leu	PROT:P33897	ABCD1	M	539	L	M539L	Likely benign	0	1	19	6
MUT:ABCD1:Phe146Ile	PROT:P33897	ABCD1	F	146	I	F146I	Benign	0	1	19	34
MUT:ABCD1:Phe681Leu	PROT:P33897	ABCD1	F	681	L	F681L	Likely benign	0	1	19	1
MUT:ABCD1:Pro143Ala	PROT:P33897	ABCD1	P	143	A	P143A	Likely pathogenic	1	1	19	37
MUT:ABCD1:Pro193Arg	PROT:P33897	ABCD1	P	193	R	P193R	Pathogenic	1	1	19	12
MUT:ABCD1:Pro263Leu	PROT:P33897	ABCD1	P	263	L	P263L	Likely pathogenic	1	1	19	1
MUT:ABCD1:Pro263Ser	PROT:P33897	ABCD1	P	263	S	P263S	Likely pathogenic	1	1	19	1
MUT:ABCD1:Pro42Leu	PROT:P33897	ABCD1	P	42	L	P42L	Likely benign	0	1	19	16
MUT:ABCD1:Pro484Arg	PROT:P33897	ABCD1	P	484	R	P484R	Pathogenic	1	1	19	49
MUT:ABCD1:Pro484Ser	PROT:P33897	ABCD1	P	484	S	P484S	Likely pathogenic	1	1	19	49
MUT:ABCD1:Pro508Leu	PROT:P33897	ABCD1	P	508	L	P508L	Pathogenic	1	1	19	25
MUT:ABCD1:Pro525Leu	PROT:P33897	ABCD1	P	525	L	P525L	Likely pathogenic	1	1	19	8
MUT:ABCD1:Pro534Ser	PROT:P33897	ABCD1	P	534	S	P534S	Likely pathogenic	1	1	19	1
MUT:ABCD1:Pro534Thr	PROT:P33897	ABCD1	P	534	T	P534T	Likely pathogenic	1	1	19	1
MUT:ABCD1:Pro543Arg	PROT:P33897	ABCD1	P	543	R	P543R	Likely pathogenic	1	1	19	10
MUT:ABCD1:Pro543Leu	PROT:P33897	ABCD1	P	543	L	P543L	Pathogenic/Likely pathogenic	1	1	19	10
MUT:ABCD1:Pro560Arg	PROT:P33897	ABCD1	P	560	R	P560R	Likely pathogenic	1	1	19	9
MUT:ABCD1:Pro560Leu	PROT:P33897	ABCD1	P	560	L	P560L	Pathogenic	1	1	19	9
MUT:ABCD1:Pro560Ser	PROT:P33897	ABCD1	P	560	S	P560S	Likely pathogenic	1	1	19	9
MUT:ABCD1:Pro560Thr	PROT:P33897	ABCD1	P	560	T	P560T	Likely pathogenic	1	1	19	9
MUT:ABCD1:Pro7Ser	PROT:P33897	ABCD1	P	7	S	P7S	Likely benign	0	1	19	51
MUT:ABCD1:Pro84Ser	PROT:P33897	ABCD1	P	84	S	P84S	Pathogenic/Likely pathogenic	1	1	19	26
MUT:ABCD1:Ser103Arg	PROT:P33897	ABCD1	S	103	R	S103R	Likely pathogenic	1	1	19	45
MUT:ABCD1:Ser108Leu	PROT:P33897	ABCD1	S	108	L	S108L	Pathogenic/Likely pathogenic	1	1	19	50
MUT:ABCD1:Ser262Trp	PROT:P33897	ABCD1	S	262	W	S262W	Pathogenic/Likely pathogenic	1	1	19	2
MUT:ABCD1:Ser284Pro	PROT:P33897	ABCD1	S	284	P	S284P	Likely pathogenic	1	1	19	0
MUT:ABCD1:Ser290Trp	PROT:P33897	ABCD1	S	290	W	S290W	Pathogenic	1	1	19	6
MUT:ABCD1:Ser315Leu	PROT:P33897	ABCD1	S	315	L	S315L	Likely benign	0	1	19	22
MUT:ABCD1:Ser515Phe	PROT:P33897	ABCD1	S	515	F	S515F	Pathogenic	1	1	19	18
MUT:ABCD1:Ser58Cys	PROT:P33897	ABCD1	S	58	C	S58C	Likely benign	0	1	19	0
MUT:ABCD1:Ser58Phe	PROT:P33897	ABCD1	S	58	F	S58F	Likely benign	0	1	19	0
MUT:ABCD1:Ser606Leu	PROT:P33897	ABCD1	S	606	L	S606L	Pathogenic	1	2	19	4
MUT:ABCD1:Ser633Arg	PROT:P33897	ABCD1	S	633	R	S633R	Pathogenic/Likely pathogenic	1	1	19	23
MUT:ABCD1:Ser636Ile	PROT:P33897	ABCD1	S	636	I	S636I	Pathogenic	1	1	19	26
MUT:ABCD1:Ser656Phe	PROT:P33897	ABCD1	S	656	F	S656F	Likely pathogenic	1	1	19	24
MUT:ABCD1:Ser98Leu	PROT:P33897	ABCD1	S	98	L	S98L	Pathogenic	1	1	19	40
MUT:ABCD1:Ser98Trp	PROT:P33897	ABCD1	S	98	W	S98W	Likely pathogenic	1	2	19	40
MUT:ABCD1:Thr145Ala	PROT:P33897	ABCD1	T	145	A	T145A	Likely pathogenic	1	1	19	35
MUT:ABCD1:Thr145Pro	PROT:P33897	ABCD1	T	145	P	T145P	Likely pathogenic	1	1	19	35
MUT:ABCD1:Thr18Lys	PROT:P33897	ABCD1	T	18	K	T18K	Likely benign	0	1	19	40
MUT:ABCD1:Thr198Met	PROT:P33897	ABCD1	T	198	M	T198M	Pathogenic/Likely pathogenic	1	1	19	17
MUT:ABCD1:Thr254Ala	PROT:P33897	ABCD1	T	254	A	T254A	Pathogenic	1	1	19	10
MUT:ABCD1:Thr254Met	PROT:P33897	ABCD1	T	254	M	T254M	Pathogenic/Likely pathogenic	1	2	19	10
MUT:ABCD1:Thr254Pro	PROT:P33897	ABCD1	T	254	P	T254P	Likely pathogenic	1	1	19	10
MUT:ABCD1:Thr382Pro	PROT:P33897	ABCD1	T	382	P	T382P	Likely pathogenic	1	1	19	25
MUT:ABCD1:Thr410Ser	PROT:P33897	ABCD1	T	410	S	T410S	Likely benign	0	1	19	0
MUT:ABCD1:Thr416Arg	PROT:P33897	ABCD1	T	416	R	T416R	Pathogenic	1	1	19	0
MUT:ABCD1:Thr632Ile	PROT:P33897	ABCD1	T	632	I	T632I	Pathogenic	1	1	19	22
MUT:ABCD1:Thr632Pro	PROT:P33897	ABCD1	T	632	P	T632P	Likely pathogenic	1	1	19	22
MUT:ABCD1:Thr658Ile	PROT:P33897	ABCD1	T	658	I	T658I	Likely pathogenic	1	1	19	22
MUT:ABCD1:Thr668Ile	PROT:P33897	ABCD1	T	668	I	T668I	Likely pathogenic	1	1	19	12
MUT:ABCD1:Trp10Cys	PROT:P33897	ABCD1	W	10	C	W10C	Likely benign	0	1	19	48
MUT:ABCD1:Trp339Arg	PROT:P33897	ABCD1	W	339	R	W339R	Likely pathogenic	1	1	19	2
MUT:ABCD1:Trp524Arg	PROT:P33897	ABCD1	W	524	R	W524R	Likely pathogenic	1	1	19	9
MUT:ABCD1:Trp601Ser	PROT:P33897	ABCD1	W	601	S	W601S	Likely pathogenic	1	1	19	1
MUT:ABCD1:Trp679Arg	PROT:P33897	ABCD1	W	679	R	W679R	Likely pathogenic	1	1	19	1
MUT:ABCD1:Tyr174Asp	PROT:P33897	ABCD1	Y	174	D	Y174D	Pathogenic	1	1	19	6
MUT:ABCD1:Tyr174Cys	PROT:P33897	ABCD1	Y	174	C	Y174C	Pathogenic	1	1	19	6
MUT:ABCD1:Tyr174His	PROT:P33897	ABCD1	Y	174	H	Y174H	Likely pathogenic	1	1	19	6
MUT:ABCD1:Tyr174Ser	PROT:P33897	ABCD1	Y	174	S	Y174S	Pathogenic/Likely pathogenic	1	1	19	6
MUT:ABCD1:Tyr27Ser	PROT:P33897	ABCD1	Y	27	S	Y27S	Likely pathogenic	1	1	19	31
MUT:ABCD1:Tyr296Cys	PROT:P33897	ABCD1	Y	296	C	Y296C	Pathogenic/Likely pathogenic	1	1	19	12
MUT:ABCD1:Tyr296Ser	PROT:P33897	ABCD1	Y	296	S	Y296S	Likely pathogenic	1	1	19	12
MUT:ABCD1:Tyr547Cys	PROT:P33897	ABCD1	Y	547	C	Y547C	Likely pathogenic	1	1	19	14
MUT:ABCD1:Tyr547Phe	PROT:P33897	ABCD1	Y	547	F	Y547F	Pathogenic	1	1	19	14
MUT:ABCD1:Tyr559His	PROT:P33897	ABCD1	Y	559	H	Y559H	Likely pathogenic	1	1	19	10
MUT:ABCD1:Val111Met	PROT:P33897	ABCD1	V	111	M	V111M	Likely pathogenic	1	1	19	53
MUT:ABCD1:Val147Ile	PROT:P33897	ABCD1	V	147	I	V147I	Likely benign	0	1	19	33
MUT:ABCD1:Val201Met	PROT:P33897	ABCD1	V	201	M	V201M	Benign/Likely benign	0	2	19	20
MUT:ABCD1:Val20Glu	PROT:P33897	ABCD1	V	20	E	V20E	Likely benign	0	1	19	38
MUT:ABCD1:Val287Met	PROT:P33897	ABCD1	V	287	M	V287M	Likely benign	0	1	19	3
MUT:ABCD1:Val365Glu	PROT:P33897	ABCD1	V	365	E	V365E	Likely benign	0	1	19	28
MUT:ABCD1:Val365Leu	PROT:P33897	ABCD1	V	365	L	V365L	Likely benign	0	1	19	28
MUT:ABCD1:Val365Met	PROT:P33897	ABCD1	V	365	M	V365M	Likely benign	0	1	19	28
MUT:ABCD1:Val419Ala	PROT:P33897	ABCD1	V	419	A	V419A	Pathogenic	1	1	19	3
MUT:ABCD1:Val457Leu	PROT:P33897	ABCD1	V	457	L	V457L	Likely benign	0	1	19	41
MUT:ABCD1:Val482Ile	PROT:P33897	ABCD1	V	482	I	V482I	Likely benign	0	1	19	51
MUT:ABCD1:Val489Ala	PROT:P33897	ABCD1	V	489	A	V489A	Likely benign	0	1	19	44
MUT:ABCD1:Val582Ile	PROT:P33897	ABCD1	V	582	I	V582I	Benign/Likely benign	0	2	19	13
MUT:ABCD1:Val583Glu	PROT:P33897	ABCD1	V	583	E	V583E	Benign/Likely benign	0	2	19	14
MUT:ABCD1:Val604Ile	PROT:P33897	ABCD1	V	604	I	V604I	Benign	0	1	19	2
MUT:ABCD4:Ala128Val	PROT:O14678	ABCD4	A	128	V	A128V	Benign/Likely benign	0	1	5	12
MUT:ABCD4:Ala304Thr	PROT:O14678	ABCD4	A	304	T	A304T	Benign	0	1	5	79
MUT:ABCD4:Ala379Val	PROT:O14678	ABCD4	A	379	V	A379V	Likely benign	0	1	5	22
MUT:ABCD4:Ala4Pro	PROT:O14678	ABCD4	A	4	P	A4P	Benign	0	1	5	112
MUT:ABCD4:Ala500Thr	PROT:O14678	ABCD4	A	500	T	A500T	Likely benign	0	1	5	21
MUT:ABCD4:Ala507Thr	PROT:O14678	ABCD4	A	507	T	A507T	Likely benign	0	1	5	28
MUT:ABCD4:Arg125Gln	PROT:O14678	ABCD4	R	125	Q	R125Q	Likely benign	0	1	5	9
MUT:ABCD4:Arg348Gln	PROT:O14678	ABCD4	R	348	Q	R348Q	Benign/Likely benign	0	1	5	53
MUT:ABCD4:Arg348Leu	PROT:O14678	ABCD4	R	348	L	R348L	Likely benign	0	1	5	53
MUT:ABCD4:Arg348Trp	PROT:O14678	ABCD4	R	348	W	R348W	Benign	0	2	5	53
MUT:ABCD4:Arg432Gln	PROT:O14678	ABCD4	R	432	Q	R432Q	Likely pathogenic	1	2	5	31
MUT:ABCD4:Arg579Gln	PROT:O14678	ABCD4	R	579	Q	R579Q	Benign/Likely benign	0	1	5	100
MUT:ABCD4:Asn141Lys	PROT:O14678	ABCD4	N	141	K	N141K	Pathogenic/Likely pathogenic	1	2	5	25
MUT:ABCD4:Asp489Glu	PROT:O14678	ABCD4	D	489	E	D489E	Likely benign	0	1	5	10
MUT:ABCD4:Gln59Arg	PROT:O14678	ABCD4	Q	59	R	Q59R	Benign/Likely benign	0	1	5	57
MUT:ABCD4:Glu368Lys	PROT:O14678	ABCD4	E	368	K	E368K	Benign/Likely benign	0	1	5	33
MUT:ABCD4:Gly426Ser	PROT:O14678	ABCD4	G	426	S	G426S	Pathogenic	1	1	5	25
MUT:ABCD4:Gly486Cys	PROT:O14678	ABCD4	G	486	C	G486C	Pathogenic	1	1	5	7
MUT:ABCD4:Ile166Thr	PROT:O14678	ABCD4	I	166	T	I166T	Likely benign	0	1	5	50
MUT:ABCD4:Ile493Thr	PROT:O14678	ABCD4	I	493	T	I493T	Likely benign	0	1	5	14
MUT:ABCD4:Thr259Ser	PROT:O14678	ABCD4	T	259	S	T259S	Likely benign	0	1	5	34
MUT:ABCD4:Thr333Met	PROT:O14678	ABCD4	T	333	M	T333M	Likely benign	0	1	5	68
MUT:ABCD4:Thr350Arg	PROT:O14678	ABCD4	T	350	R	T350R	Benign	0	1	5	51
MUT:ABCD4:Tyr173Cys	PROT:O14678	ABCD4	Y	173	C	Y173C	Likely benign	0	1	5	44
MUT:ABCD4:Val172Ile	PROT:O14678	ABCD4	V	172	I	V172I	Benign/Likely benign	0	1	5	45
MUT:ABCF1:Arg759Trp	PROT:Q8NE71	ABCF1	R	759	W	R759W	Likely benign	0	1	36	11
MUT:ABCG8:Arg405Cys	PROT:Q9H221	ABCG8	R	405	C	R405C	Pathogenic/Likely pathogenic	1	1	2	191
MUT:ABCG8:Cys80Tyr	PROT:Q9H221	ABCG8	C	80	Y	C80Y	Benign/Likely benign	0	1	2	129
MUT:ABCG8:Gly574Arg	PROT:Q9H221	ABCG8	G	574	R	G574R	Pathogenic/Likely pathogenic	1	4	2	360
MUT:ABCG8:Leu52Val	PROT:Q9H221	ABCG8	L	52	V	L52V	Benign	0	1	2	157
MUT:ABCG8:Leu596Arg	PROT:Q9H221	ABCG8	L	596	R	L596R	Pathogenic	1	1	2	382
MUT:ABCG8:Pro231Thr	PROT:Q9H221	ABCG8	P	231	T	P231T	Pathogenic	1	1	2	17
MUT:ABCG8:Ser32Gly	PROT:Q9H221	ABCG8	S	32	G	S32G	Benign/Likely benign	0	2	2	177
MUT:ABCG8:Thr400Lys	PROT:Q9H221	ABCG8	T	400	K	T400K	Benign/Likely benign	0	1	2	186
MUT:ABCG8:Tyr54Cys	PROT:Q9H221	ABCG8	Y	54	C	Y54C	Benign/Likely benign	0	1	2	155
MUT:ABCG8:Val210Met	PROT:Q9H221	ABCG8	V	210	M	V210M	Benign/Likely benign	0	1	2	1
MUT:ABCG8:Val632Ala	PROT:Q9H221	ABCG8	V	632	A	V632A	Benign	0	1	2	418
MUT:ABHD12:Ala252Val	PROT:Q8N2K0	ABHD12	A	252	V	A252V	Likely pathogenic	1	1	4	1
MUT:ABHD12:Ala349Thr	PROT:Q8N2K0	ABHD12	A	349	T	A349T	Benign	0	1	4	30
MUT:ABHD12:His372Gln	PROT:Q8N2K0	ABHD12	H	372	Q	H372Q	Pathogenic	1	1	4	53
MUT:ABHD12:Phe77Leu	PROT:Q8N2K0	ABHD12	F	77	L	F77L	Likely benign	0	1	4	155
MUT:ABHD12:Pro324Leu	PROT:Q8N2K0	ABHD12	P	324	L	P324L	Likely pathogenic	1	1	4	5
MUT:ABHD12:Val68Met	PROT:Q8N2K0	ABHD12	V	68	M	V68M	Benign	0	1	4	164
MUT:ABHD16A:Arg178Gln	PROT:O95870	ABHD16A	R	178	Q	R178Q	Likely benign	0	1	6	132
MUT:ABHD16A:Arg178Trp	PROT:O95870	ABHD16A	R	178	W	R178W	Likely benign	0	1	6	132
MUT:ABHD16A:Arg184Leu	PROT:O95870	ABHD16A	R	184	L	R184L	Likely benign	0	7	6	138
MUT:ABHD16A:Arg190Trp	PROT:O95870	ABHD16A	R	190	W	R190W	Likely benign	0	1	6	144
MUT:ABHD16A:Arg457Gln	PROT:O95870	ABHD16A	R	457	Q	R457Q	Pathogenic	1	2	6	5
MUT:ABHD16A:Arg525Gln	PROT:O95870	ABHD16A	R	525	Q	R525Q	Likely benign	0	1	6	73
MUT:ABHD16A:Thr195Asn	PROT:O95870	ABHD16A	T	195	N	T195N	Likely benign	0	1	6	149
MUT:ABHD16A:Thr34Ala	PROT:O95870	ABHD16A	T	34	A	T34A	Likely benign	0	1	6	8
MUT:ABHD16A:Val29Leu	PROT:O95870	ABHD16A	V	29	L	V29L	Likely benign	0	1	6	13
MUT:ABHD5:Arg114Leu	PROT:Q8WTS1	ABHD5	R	114	L	R114L	Benign/Likely benign	0	1	4	1
MUT:ABHD5:Gln130Pro	PROT:Q8WTS1	ABHD5	Q	130	P	Q130P	Pathogenic	1	1	4	14
MUT:ABHD5:Glu260Lys	PROT:Q8WTS1	ABHD5	E	260	K	E260K	Pathogenic	1	1	4	23
MUT:ABHD5:Glu7Lys	PROT:Q8WTS1	ABHD5	E	7	K	E7K	Likely benign	0	1	4	29
MUT:ABHD5:Gly271Arg	PROT:Q8WTS1	ABHD5	G	271	R	G271R	Pathogenic	1	1	4	12
MUT:ABHD5:Ile72Thr	PROT:Q8WTS1	ABHD5	I	72	T	I72T	Benign/Likely benign	0	2	4	36
MUT:ABHD5:Phe68Leu	PROT:Q8WTS1	ABHD5	F	68	L	F68L	Benign	0	2	4	32
MUT:ABHD5:Ser115Arg	PROT:Q8WTS1	ABHD5	S	115	R	S115R	Likely pathogenic	1	1	4	0
MUT:ACAA1:Asp75Glu	PROT:P09110	ACAA1	D	75	E	D75E	Likely benign	0	2	10	5
MUT:ACAA1:Glu172Asp	PROT:P09110	ACAA1	E	172	D	E172D	Benign	0	1	10	26
MUT:ACACA:Ala1657Thr	PROT:Q13085	ACACA	A	1657	T	A1657T	Pathogenic	1	1	69	71
MUT:ACACA:Asp917His	PROT:Q13085	ACACA	D	917	H	D917H	Benign	0	1	69	1
MUT:ACACA:Leu1442Val	PROT:Q13085	ACACA	L	1442	V	L1442V	Likely benign	0	1	69	72
MUT:ACACA:Met1248Val	PROT:Q13085	ACACA	M	1248	V	M1248V	Benign	0	1	69	9
MUT:ACACA:Pro2214His	PROT:Q13085	ACACA	P	2214	H	P2214H	Pathogenic/Likely pathogenic	1	1	69	5
MUT:ACACB:Arg1786Gln	PROT:O00763	ACACB	R	1786	Q	R1786Q	Likely benign	0	1	24	40
MUT:ACACB:Arg189Gln	PROT:O00763	ACACB	R	189	Q	R189Q	Benign	0	1	24	3
MUT:ACACB:Arg2306Gln	PROT:O00763	ACACB	R	2306	Q	R2306Q	Benign	0	1	24	475
MUT:ACACB:Asn1760Ser	PROT:O00763	ACACB	N	1760	S	N1760S	Likely benign	0	1	24	66
MUT:ACACB:Asp2409Asn	PROT:O00763	ACACB	D	2409	N	D2409N	Likely benign	0	1	24	578
MUT:ACACB:Gln1257Glu	PROT:O00763	ACACB	Q	1257	E	Q1257E	Benign	0	1	24	216
MUT:ACACB:Glu1923Gln	PROT:O00763	ACACB	E	1923	Q	E1923Q	Likely benign	0	1	24	92
MUT:ACACB:Pro1686Arg	PROT:O00763	ACACB	P	1686	R	P1686R	Benign	0	1	24	126
MUT:ACACB:Pro219Leu	PROT:O00763	ACACB	P	219	L	P219L	Likely benign	0	1	24	1
MUT:ACACB:Pro43Leu	PROT:O00763	ACACB	P	43	L	P43L	Likely benign	0	1	24	6
MUT:ACACB:Val1996Met	PROT:O00763	ACACB	V	1996	M	V1996M	Benign	0	1	24	165
MUT:ACADL:Ala3Ser	PROT:P28330	ACADL	A	3	S	A3S	Likely benign	0	1	1	359
MUT:ACADSB:Arg13Lys	PROT:P45954	ACADSB	R	13	K	R13K	Benign	0	1	7	57
MUT:ACADSB:Cys308Tyr	PROT:P45954	ACADSB	C	308	Y	C308Y	Pathogenic/Likely pathogenic	1	1	7	19
MUT:ACADSB:Glu387Lys	PROT:P45954	ACADSB	E	387	K	E387K	Pathogenic/Likely pathogenic	1	3	7	26
MUT:ACADSB:Gly410Ser	PROT:P45954	ACADSB	G	410	S	G410S	Pathogenic/Likely pathogenic	1	1	7	3
MUT:ACADSB:His31Arg	PROT:P45954	ACADSB	H	31	R	H31R	Benign	0	2	7	39
MUT:ACADSB:Ile246Val	PROT:P45954	ACADSB	I	246	V	I246V	Likely benign	0	1	7	12
MUT:ACADSB:Ile316Val	PROT:P45954	ACADSB	I	316	V	I316V	Benign	0	1	7	27
MUT:ACADSB:Leu218Pro	PROT:P45954	ACADSB	L	218	P	L218P	Pathogenic	1	1	7	20
MUT:ACADSB:Leu255Phe	PROT:P45954	ACADSB	L	255	F	L255F	Pathogenic	1	1	7	3
MUT:ACADSB:Met389Val	PROT:P45954	ACADSB	M	389	V	M389V	Pathogenic	1	1	7	24
MUT:ACADSB:Ser183Asn	PROT:P45954	ACADSB	S	183	N	S183N	Pathogenic	1	1	7	15
MUT:ACADSB:Tyr199Cys	PROT:P45954	ACADSB	Y	199	C	Y199C	Likely pathogenic	1	1	7	1
MUT:ACADSB:Val219Met	PROT:P45954	ACADSB	V	219	M	V219M	Pathogenic/Likely pathogenic	1	1	7	21
MUT:ACADVL:Ala161Asp	PROT:P49748	ACADVL	A	161	D	A161D	Likely pathogenic	1	1	28	78
MUT:ACADVL:Ala161Ser	PROT:P49748	ACADVL	A	161	S	A161S	Likely pathogenic	1	1	28	78
MUT:ACADVL:Ala161Val	PROT:P49748	ACADVL	A	161	V	A161V	Likely pathogenic	1	1	28	78
MUT:ACADVL:Ala180Thr	PROT:P49748	ACADVL	A	180	T	A180T	Likely pathogenic	1	1	28	59
MUT:ACADVL:Ala212Asp	PROT:P49748	ACADVL	A	212	D	A212D	Likely pathogenic	1	1	28	27
MUT:ACADVL:Ala213Pro	PROT:P49748	ACADVL	A	213	P	A213P	Likely pathogenic	1	1	28	26
MUT:ACADVL:Ala213Thr	PROT:P49748	ACADVL	A	213	T	A213T	Likely pathogenic	1	2	28	26
MUT:ACADVL:Ala281Asp	PROT:P49748	ACADVL	A	281	D	A281D	Likely pathogenic	1	1	28	3
MUT:ACADVL:Ala349Glu	PROT:P49748	ACADVL	A	349	E	A349E	Likely pathogenic	1	1	28	15
MUT:ACADVL:Ala359Val	PROT:P49748	ACADVL	A	359	V	A359V	Pathogenic/Likely pathogenic	1	1	28	5
MUT:ACADVL:Ala415Val	PROT:P49748	ACADVL	A	415	V	A415V	Pathogenic/Likely pathogenic	1	1	28	33
MUT:ACADVL:Ala416Thr	PROT:P49748	ACADVL	A	416	T	A416T	Likely pathogenic	1	1	28	34
MUT:ACADVL:Ala425Val	PROT:P49748	ACADVL	A	425	V	A425V	Likely pathogenic	1	1	28	43
MUT:ACADVL:Ala490Gly	PROT:P49748	ACADVL	A	490	G	A490G	Likely pathogenic	1	1	28	1
MUT:ACADVL:Ala490Pro	PROT:P49748	ACADVL	A	490	P	A490P	Likely pathogenic	1	2	28	1
MUT:ACADVL:Ala490Val	PROT:P49748	ACADVL	A	490	V	A490V	Likely pathogenic	1	1	28	1
MUT:ACADVL:Arg23Gln	PROT:P49748	ACADVL	R	23	Q	R23Q	Benign	0	2	28	28
MUT:ACADVL:Arg286Gly	PROT:P49748	ACADVL	R	286	G	R286G	Likely pathogenic	1	2	28	8
MUT:ACADVL:Arg286Lys	PROT:P49748	ACADVL	R	286	K	R286K	Likely pathogenic	1	1	28	8
MUT:ACADVL:Arg366Cys	PROT:P49748	ACADVL	R	366	C	R366C	Likely pathogenic	1	1	28	2
MUT:ACADVL:Arg366Gly	PROT:P49748	ACADVL	R	366	G	R366G	Likely pathogenic	1	1	28	2
MUT:ACADVL:Arg366His	PROT:P49748	ACADVL	R	366	H	R366H	Likely pathogenic	1	2	28	2
MUT:ACADVL:Arg366Leu	PROT:P49748	ACADVL	R	366	L	R366L	Likely pathogenic	1	1	28	2
MUT:ACADVL:Arg366Pro	PROT:P49748	ACADVL	R	366	P	R366P	Likely pathogenic	1	1	28	2
MUT:ACADVL:Arg385Trp	PROT:P49748	ACADVL	R	385	W	R385W	Likely pathogenic	1	2	28	3
MUT:ACADVL:Arg450Cys	PROT:P49748	ACADVL	R	450	C	R450C	Pathogenic	1	1	28	32
MUT:ACADVL:Arg450His	PROT:P49748	ACADVL	R	450	H	R450H	Likely pathogenic	1	1	28	32
MUT:ACADVL:Arg450Ser	PROT:P49748	ACADVL	R	450	S	R450S	Likely pathogenic	1	1	28	32
MUT:ACADVL:Arg453Gln	PROT:P49748	ACADVL	R	453	Q	R453Q	Likely pathogenic	1	1	28	29
MUT:ACADVL:Arg456His	PROT:P49748	ACADVL	R	456	H	R456H	Likely pathogenic	1	1	28	26
MUT:ACADVL:Arg459Gln	PROT:P49748	ACADVL	R	459	Q	R459Q	Pathogenic	1	2	28	23
MUT:ACADVL:Arg459Gly	PROT:P49748	ACADVL	R	459	G	R459G	Likely pathogenic	1	1	28	23
MUT:ACADVL:Arg459Trp	PROT:P49748	ACADVL	R	459	W	R459W	Likely pathogenic	1	1	28	23
MUT:ACADVL:Arg469Gln	PROT:P49748	ACADVL	R	469	Q	R469Q	Likely pathogenic	1	1	28	13
MUT:ACADVL:Arg511Gln	PROT:P49748	ACADVL	R	511	Q	R511Q	Likely pathogenic	1	2	28	4
MUT:ACADVL:Arg613Leu	PROT:P49748	ACADVL	R	613	L	R613L	Likely pathogenic	1	1	28	18
MUT:ACADVL:Arg613Pro	PROT:P49748	ACADVL	R	613	P	R613P	Pathogenic	1	1	28	18
MUT:ACADVL:Arg613Trp	PROT:P49748	ACADVL	R	613	W	R613W	Likely pathogenic	1	1	28	18
MUT:ACADVL:Arg615Gln	PROT:P49748	ACADVL	R	615	Q	R615Q	Likely benign	0	2	28	16
MUT:ACADVL:Arg62Thr	PROT:P49748	ACADVL	R	62	T	R62T	Likely benign	0	1	28	8
MUT:ACADVL:Asn122Asp	PROT:P49748	ACADVL	N	122	D	N122D	Likely pathogenic	1	1	28	51
MUT:ACADVL:Asn122Lys	PROT:P49748	ACADVL	N	122	K	N122K	Likely pathogenic	1	1	28	51
MUT:ACADVL:Asn306Lys	PROT:P49748	ACADVL	N	306	K	N306K	Pathogenic	1	1	28	7
MUT:ACADVL:Asp361Tyr	PROT:P49748	ACADVL	D	361	Y	D361Y	Likely pathogenic	1	1	28	3
MUT:ACADVL:Asp405Asn	PROT:P49748	ACADVL	D	405	N	D405N	Likely pathogenic	1	1	28	23
MUT:ACADVL:Asp405His	PROT:P49748	ACADVL	D	405	H	D405H	Likely pathogenic	1	1	28	23
MUT:ACADVL:Asp431Gly	PROT:P49748	ACADVL	D	431	G	D431G	Pathogenic	1	1	28	49
MUT:ACADVL:Asp466Tyr	PROT:P49748	ACADVL	D	466	Y	D466Y	Likely pathogenic	1	1	28	16
MUT:ACADVL:Cys215Arg	PROT:P49748	ACADVL	C	215	R	C215R	Likely pathogenic	1	1	28	24
MUT:ACADVL:Cys237Arg	PROT:P49748	ACADVL	C	237	R	C237R	Pathogenic/Likely pathogenic	1	1	28	2
MUT:ACADVL:Gln197Lys	PROT:P49748	ACADVL	Q	197	K	Q197K	Likely pathogenic	1	1	28	42
MUT:ACADVL:Glu218Lys	PROT:P49748	ACADVL	E	218	K	E218K	Likely pathogenic	1	1	28	21
MUT:ACADVL:Glu285Gly	PROT:P49748	ACADVL	E	285	G	E285G	Likely pathogenic	1	1	28	7
MUT:ACADVL:Glu285Val	PROT:P49748	ACADVL	E	285	V	E285V	Likely pathogenic	1	1	28	7
MUT:ACADVL:Gly140Arg	PROT:P49748	ACADVL	G	140	R	G140R	Likely pathogenic	1	1	28	69
MUT:ACADVL:Gly140Glu	PROT:P49748	ACADVL	G	140	E	G140E	Likely pathogenic	1	1	28	69
MUT:ACADVL:Gly152Ser	PROT:P49748	ACADVL	G	152	S	G152S	Likely pathogenic	1	1	28	81
MUT:ACADVL:Gly179Trp	PROT:P49748	ACADVL	G	179	W	G179W	Likely pathogenic	1	1	28	60
MUT:ACADVL:Gly185Cys	PROT:P49748	ACADVL	G	185	C	G185C	Likely pathogenic	1	1	28	54
MUT:ACADVL:Gly185Ser	PROT:P49748	ACADVL	G	185	S	G185S	Likely pathogenic	1	2	28	54
MUT:ACADVL:Gly222Ala	PROT:P49748	ACADVL	G	222	A	G222A	Likely pathogenic	1	1	28	17
MUT:ACADVL:Gly222Arg	PROT:P49748	ACADVL	G	222	R	G222R	Likely pathogenic	1	2	28	17
MUT:ACADVL:Gly254Asp	PROT:P49748	ACADVL	G	254	D	G254D	Pathogenic	1	1	28	15
MUT:ACADVL:Gly289Arg	PROT:P49748	ACADVL	G	289	R	G289R	Likely pathogenic	1	1	28	9
MUT:ACADVL:Gly294Arg	PROT:P49748	ACADVL	G	294	R	G294R	Likely pathogenic	1	1	28	4
MUT:ACADVL:Gly301Asp	PROT:P49748	ACADVL	G	301	D	G301D	Likely pathogenic	1	1	28	2
MUT:ACADVL:Gly350Val	PROT:P49748	ACADVL	G	350	V	G350V	Likely pathogenic	1	1	28	14
MUT:ACADVL:Gly407Ala	PROT:P49748	ACADVL	G	407	A	G407A	Likely pathogenic	1	1	28	25
MUT:ACADVL:Gly438Ala	PROT:P49748	ACADVL	G	438	A	G438A	Likely pathogenic	1	1	28	44
MUT:ACADVL:Gly438Glu	PROT:P49748	ACADVL	G	438	E	G438E	Pathogenic	1	1	28	44
MUT:ACADVL:Gly439Ala	PROT:P49748	ACADVL	G	439	A	G439A	Pathogenic	1	1	28	43
MUT:ACADVL:Gly439Arg	PROT:P49748	ACADVL	G	439	R	G439R	Likely pathogenic	1	1	28	43
MUT:ACADVL:Gly439Cys	PROT:P49748	ACADVL	G	439	C	G439C	Likely pathogenic	1	1	28	43
MUT:ACADVL:Gly439Val	PROT:P49748	ACADVL	G	439	V	G439V	Likely pathogenic	1	1	28	43
MUT:ACADVL:Gly43Asp	PROT:P49748	ACADVL	G	43	D	G43D	Benign	0	1	28	8
MUT:ACADVL:Gly441Asp	PROT:P49748	ACADVL	G	441	D	G441D	Pathogenic	1	1	28	41
MUT:ACADVL:Gly463Glu	PROT:P49748	ACADVL	G	463	E	G463E	Likely pathogenic	1	1	28	19
MUT:ACADVL:Gly514Ala	PROT:P49748	ACADVL	G	514	A	G514A	Likely pathogenic	1	1	28	3
MUT:ACADVL:Gly514Glu	PROT:P49748	ACADVL	G	514	E	G514E	Pathogenic/Likely pathogenic	1	1	28	3
MUT:ACADVL:Gly80Arg	PROT:P49748	ACADVL	G	80	R	G80R	Likely pathogenic	1	1	28	9
MUT:ACADVL:Gly80Asp	PROT:P49748	ACADVL	G	80	D	G80D	Likely pathogenic	1	1	28	9
MUT:ACADVL:His374Pro	PROT:P49748	ACADVL	H	374	P	H374P	Likely pathogenic	1	1	28	2
MUT:ACADVL:Ile258Thr	PROT:P49748	ACADVL	I	258	T	I258T	Pathogenic/Likely pathogenic	1	1	28	18
MUT:ACADVL:Ile413Thr	PROT:P49748	ACADVL	I	413	T	I413T	Likely pathogenic	1	1	28	31
MUT:ACADVL:Leu102Pro	PROT:P49748	ACADVL	L	102	P	L102P	Likely pathogenic	1	1	28	31
MUT:ACADVL:Leu125Val	PROT:P49748	ACADVL	L	125	V	L125V	Likely pathogenic	1	1	28	54
MUT:ACADVL:Leu136Phe	PROT:P49748	ACADVL	L	136	F	L136F	Pathogenic/Likely pathogenic	1	1	28	65
MUT:ACADVL:Leu172Phe	PROT:P49748	ACADVL	L	172	F	L172F	Likely pathogenic	1	1	28	67
MUT:ACADVL:Leu172Pro	PROT:P49748	ACADVL	L	172	P	L172P	Likely pathogenic	1	1	28	67
MUT:ACADVL:Leu17Phe	PROT:P49748	ACADVL	L	17	F	L17F	Benign	0	13	28	34
MUT:ACADVL:Leu202Phe	PROT:P49748	ACADVL	L	202	F	L202F	Likely pathogenic	1	1	28	37
MUT:ACADVL:Leu202Pro	PROT:P49748	ACADVL	L	202	P	L202P	Likely pathogenic	1	1	28	37
MUT:ACADVL:Leu202Val	PROT:P49748	ACADVL	L	202	V	L202V	Pathogenic/Likely pathogenic	1	1	28	37
MUT:ACADVL:Leu255Pro	PROT:P49748	ACADVL	L	255	P	L255P	Likely pathogenic	1	1	28	16
MUT:ACADVL:Leu529Phe	PROT:P49748	ACADVL	L	529	F	L529F	Pathogenic	1	1	28	7
MUT:ACADVL:Leu540Pro	PROT:P49748	ACADVL	L	540	P	L540P	Likely pathogenic	1	1	28	16
MUT:ACADVL:Leu641Phe	PROT:P49748	ACADVL	L	641	F	L641F	Likely pathogenic	1	1	28	2
MUT:ACADVL:Lys247Arg	PROT:P49748	ACADVL	K	247	R	K247R	Likely pathogenic	1	1	28	8
MUT:ACADVL:Lys247Asn	PROT:P49748	ACADVL	K	247	N	K247N	Likely pathogenic	1	1	28	8
MUT:ACADVL:Lys247Glu	PROT:P49748	ACADVL	K	247	E	K247E	Likely pathogenic	1	1	28	8
MUT:ACADVL:Lys247Thr	PROT:P49748	ACADVL	K	247	T	K247T	Likely pathogenic	1	1	28	8
MUT:ACADVL:Lys264Glu	PROT:P49748	ACADVL	K	264	E	K264E	Likely pathogenic	1	1	28	12
MUT:ACADVL:Lys299Met	PROT:P49748	ACADVL	K	299	M	K299M	Likely pathogenic	1	1	28	0
MUT:ACADVL:Lys382Gln	PROT:P49748	ACADVL	K	382	Q	K382Q	Likely pathogenic	1	1	28	0
MUT:ACADVL:Lys507Ile	PROT:P49748	ACADVL	K	507	I	K507I	Pathogenic	1	1	28	0
MUT:ACADVL:Met1Ile	PROT:P49748	ACADVL	M	1	I	M1I	Likely pathogenic	1	1	28	50
MUT:ACADVL:Met300Ile	PROT:P49748	ACADVL	M	300	I	M300I	Likely pathogenic	1	1	28	1
MUT:ACADVL:Met334Ile	PROT:P49748	ACADVL	M	334	I	M334I	Likely pathogenic	1	1	28	3
MUT:ACADVL:Met334Thr	PROT:P49748	ACADVL	M	334	T	M334T	Likely pathogenic	1	1	28	3
MUT:ACADVL:Met437Thr	PROT:P49748	ACADVL	M	437	T	M437T	Pathogenic/Likely pathogenic	1	2	28	45
MUT:ACADVL:Met443Arg	PROT:P49748	ACADVL	M	443	R	M443R	Likely pathogenic	1	1	28	39
MUT:ACADVL:Met443Thr	PROT:P49748	ACADVL	M	443	T	M443T	Pathogenic/Likely pathogenic	1	1	28	39
MUT:ACADVL:Met478Ile	PROT:P49748	ACADVL	M	478	I	M478I	Likely pathogenic	1	2	28	4
MUT:ACADVL:Phe112Leu	PROT:P49748	ACADVL	F	112	L	F112L	Likely pathogenic	1	1	28	41
MUT:ACADVL:Phe113Ile	PROT:P49748	ACADVL	F	113	I	F113I	Likely pathogenic	1	1	28	42
MUT:ACADVL:Phe369Ser	PROT:P49748	ACADVL	F	369	S	F369S	Likely pathogenic	1	1	28	3
MUT:ACADVL:Phe458Leu	PROT:P49748	ACADVL	F	458	L	F458L	Likely pathogenic	1	2	28	24
MUT:ACADVL:Pro219His	PROT:P49748	ACADVL	P	219	H	P219H	Likely pathogenic	1	1	28	20
MUT:ACADVL:Pro219Leu	PROT:P49748	ACADVL	P	219	L	P219L	Likely pathogenic	1	1	28	20
MUT:ACADVL:Pro219Ser	PROT:P49748	ACADVL	P	219	S	P219S	Likely pathogenic	1	1	28	20
MUT:ACADVL:Pro219Thr	PROT:P49748	ACADVL	P	219	T	P219T	Pathogenic	1	1	28	20
MUT:ACADVL:Pro318Leu	PROT:P49748	ACADVL	P	318	L	P318L	Likely pathogenic	1	1	28	10
MUT:ACADVL:Pro65Leu	PROT:P49748	ACADVL	P	65	L	P65L	Benign	0	1	28	6
MUT:ACADVL:Pro89Ser	PROT:P49748	ACADVL	P	89	S	P89S	Likely pathogenic	1	1	28	18
MUT:ACADVL:Ser207Pro	PROT:P49748	ACADVL	S	207	P	S207P	Likely pathogenic	1	1	28	32
MUT:ACADVL:Ser21Asn	PROT:P49748	ACADVL	S	21	N	S21N	Likely pathogenic	1	2	28	30
MUT:ACADVL:Ser251Gly	PROT:P49748	ACADVL	S	251	G	S251G	Likely pathogenic	1	2	28	12
MUT:ACADVL:Ser418Asn	PROT:P49748	ACADVL	S	418	N	S418N	Pathogenic	1	1	28	36
MUT:ACADVL:Ser583Ala	PROT:P49748	ACADVL	S	583	A	S583A	Likely pathogenic	1	1	28	3
MUT:ACADVL:Ser583Trp	PROT:P49748	ACADVL	S	583	W	S583W	Pathogenic/Likely pathogenic	1	2	28	3
MUT:ACADVL:Thr260Met	PROT:P49748	ACADVL	T	260	M	T260M	Likely pathogenic	1	1	28	16
MUT:ACADVL:Thr280Arg	PROT:P49748	ACADVL	T	280	R	T280R	Likely pathogenic	1	1	28	2
MUT:ACADVL:Thr280Ile	PROT:P49748	ACADVL	T	280	I	T280I	Likely pathogenic	1	1	28	2
MUT:ACADVL:Trp606Arg	PROT:P49748	ACADVL	W	606	R	W606R	Likely pathogenic	1	1	28	20
MUT:ACADVL:Trp606Cys	PROT:P49748	ACADVL	W	606	C	W606C	Likely pathogenic	1	1	28	20
MUT:ACADVL:Tyr201Cys	PROT:P49748	ACADVL	Y	201	C	Y201C	Likely pathogenic	1	1	28	38
MUT:ACADVL:Tyr201His	PROT:P49748	ACADVL	Y	201	H	Y201H	Pathogenic	1	1	28	38
MUT:ACADVL:Val146Gly	PROT:P49748	ACADVL	V	146	G	V146G	Pathogenic	1	1	28	75
MUT:ACADVL:Val164Glu	PROT:P49748	ACADVL	V	164	E	V164E	Likely pathogenic	1	1	28	75
MUT:ACADVL:Val164Met	PROT:P49748	ACADVL	V	164	M	V164M	Likely pathogenic	1	1	28	75
MUT:ACADVL:Val174Met	PROT:P49748	ACADVL	V	174	M	V174M	Pathogenic/Likely pathogenic	1	1	28	65
MUT:ACADVL:Val267Gly	PROT:P49748	ACADVL	V	267	G	V267G	Pathogenic	1	1	28	9
MUT:ACADVL:Val283Ala	PROT:P49748	ACADVL	V	283	A	V283A	Pathogenic	1	3	28	5
MUT:ACADVL:Val322Ala	PROT:P49748	ACADVL	V	322	A	V322A	Pathogenic	1	1	28	6
MUT:ACADVL:Val326Asp	PROT:P49748	ACADVL	V	326	D	V326D	Likely pathogenic	1	1	28	2
MUT:ACADVL:Val392Leu	PROT:P49748	ACADVL	V	392	L	V392L	Pathogenic	1	1	28	10
MUT:ACADVL:Val547Met	PROT:P49748	ACADVL	V	547	M	V547M	Likely pathogenic	1	1	28	9
MUT:ACADVL:Val642Ala	PROT:P49748	ACADVL	V	642	A	V642A	Likely pathogenic	1	1	28	3
MUT:ACBD5:Arg141His	PROT:Q5T8D3	ACBD5	R	141	H	R141H	Benign	0	1	15	4
MUT:ACBD5:Glu190Lys	PROT:Q5T8D3	ACBD5	E	190	K	E190K	Benign	0	1	15	1
MUT:ACBD5:Ile503Val	PROT:Q5T8D3	ACBD5	I	503	V	I503V	Likely benign	0	1	15	75
MUT:ACBD5:Thr39Met	PROT:Q5T8D3	ACBD5	T	39	M	T39M	Benign	0	1	15	98
MUT:ACBD5:Thr412Pro	PROT:Q5T8D3	ACBD5	T	412	P	T412P	Likely benign	0	1	15	3
MUT:ACBD5:Val610Ile	PROT:Q5T8D3	ACBD5	V	610	I	V610I	Benign	0	2	15	182
MUT:ACBD6:Cys41Ser	PROT:Q9BR61	ACBD6	C	41	S	C41S	Likely benign	0	1	4	91
MUT:ACBD6:Phe30Ser	PROT:Q9BR61	ACBD6	F	30	S	F30S	Likely benign	0	1	4	102
MUT:ACE:Ala154Thr	PROT:P12821	ACE	A	154	T	A154T	Benign	0	1	2	562
MUT:ACE:Ala183Thr	PROT:P12821	ACE	A	183	T	A183T	Likely benign	0	1	2	533
MUT:ACE:Ala261Ser	PROT:P12821	ACE	A	261	S	A261S	Benign	0	1	2	455
MUT:ACE:Ala319Ser	PROT:P12821	ACE	A	319	S	A319S	Benign/Likely benign	0	1	2	397
MUT:ACE:Ala70Val	PROT:P12821	ACE	A	70	V	A70V	Likely benign	0	1	2	646
MUT:ACE:Arg1279Gln	PROT:P12821	ACE	R	1279	Q	R1279Q	Benign/Likely benign	0	1	2	561
MUT:ACE:Arg1286Ser	PROT:P12821	ACE	R	1286	S	R1286S	Benign	0	1	2	568
MUT:ACE:Arg269Lys	PROT:P12821	ACE	R	269	K	R269K	Likely benign	0	1	2	447
MUT:ACE:Arg324Trp	PROT:P12821	ACE	R	324	W	R324W	Benign/Likely benign	0	1	2	392
MUT:ACE:Arg442His	PROT:P12821	ACE	R	442	H	R442H	Benign/Likely benign	0	1	2	274
MUT:ACE:Arg561Trp	PROT:P12821	ACE	R	561	W	R561W	Benign/Likely benign	0	2	2	155
MUT:ACE:Asn160Ser	PROT:P12821	ACE	N	160	S	N160S	Benign	0	3	2	556
MUT:ACE:Asp1045His	PROT:P12821	ACE	D	1045	H	D1045H	Likely benign	0	1	2	327
MUT:ACE:Asp592Gly	PROT:P12821	ACE	D	592	G	D592G	Benign/Likely benign	0	2	2	124
MUT:ACE:Glu669Lys	PROT:P12821	ACE	E	669	K	E669K	Likely benign	0	1	2	47
MUT:ACE:Gly1099Asp	PROT:P12821	ACE	G	1099	D	G1099D	Likely pathogenic	1	1	2	381
MUT:ACE:Gly2Val	PROT:P12821	ACE	G	2	V	G2V	Benign	0	1	2	714
MUT:ACE:Gly354Arg	PROT:P12821	ACE	G	354	R	G354R	Benign/Likely benign	0	1	2	362
MUT:ACE:Gly590Ser	PROT:P12821	ACE	G	590	S	G590S	Likely benign	0	1	2	126
MUT:ACE:His1015Gln	PROT:P12821	ACE	H	1015	Q	H1015Q	Likely benign	0	1	2	297
MUT:ACE:His71Tyr	PROT:P12821	ACE	H	71	Y	H71Y	Likely benign	0	1	2	645
MUT:ACE:Ile798Val	PROT:P12821	ACE	I	798	V	I798V	Likely benign	0	2	2	80
MUT:ACE:Met1Ile	PROT:P12821	ACE	M	1	I	M1I	Likely pathogenic	1	1	2	715
MUT:ACE:Met1Thr	PROT:P12821	ACE	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	2	715
MUT:ACE:Thr1187Met	PROT:P12821	ACE	T	1187	M	T1187M	Benign/Likely benign	0	2	2	469
MUT:ACE:Thr381Met	PROT:P12821	ACE	T	381	M	T381M	Likely benign	0	1	2	335
MUT:ACE:Thr916Met	PROT:P12821	ACE	T	916	M	T916M	Benign/Likely benign	0	3	2	198
MUT:ACE:Tyr244Cys	PROT:P12821	ACE	Y	244	C	Y244C	Benign	0	2	2	472
MUT:ACO2:Ala498Thr	PROT:Q99798	ACO2	A	498	T	A498T	Likely pathogenic	1	1	33	15
MUT:ACO2:Asn350Ser	PROT:Q99798	ACO2	N	350	S	N350S	Benign	0	1	33	20
MUT:ACO2:Gln563Glu	PROT:Q99798	ACO2	Q	563	E	Q563E	Likely pathogenic	1	1	33	10
MUT:ACO2:Glu289Gln	PROT:Q99798	ACO2	E	289	Q	E289Q	Likely pathogenic	1	1	33	20
MUT:ACO2:Gly190Asp	PROT:Q99798	ACO2	G	190	D	G190D	Likely pathogenic	1	1	33	43
MUT:ACO2:Gly259Asp	PROT:Q99798	ACO2	G	259	D	G259D	Pathogenic	1	1	33	1
MUT:ACO2:Gly394Glu	PROT:Q99798	ACO2	G	394	E	G394E	Likely pathogenic	1	1	33	7
MUT:ACO2:His596Arg	PROT:Q99798	ACO2	H	596	R	H596R	Pathogenic	1	1	33	23
MUT:ACO2:Lys309Asn	PROT:Q99798	ACO2	K	309	N	K309N	Likely pathogenic	1	1	33	0
MUT:ACO2:Lys736Asn	PROT:Q99798	ACO2	K	736	N	K736N	Pathogenic	1	1	33	6
MUT:ACO2:Phe414Val	PROT:Q99798	ACO2	F	414	V	F414V	Pathogenic	1	1	33	13
MUT:ACO2:Ser112Arg	PROT:Q99798	ACO2	S	112	R	S112R	Pathogenic	1	1	33	0
MUT:ACO2:Trp222Arg	PROT:Q99798	ACO2	W	222	R	W222R	Likely pathogenic	1	1	33	11
MUT:ACO2:Trp574Cys	PROT:Q99798	ACO2	W	574	C	W574C	Likely pathogenic	1	1	33	1
MUT:ACO2:Val364Ala	PROT:Q99798	ACO2	V	364	A	V364A	Pathogenic	1	1	33	6
MUT:ACOT9:Glu312Gln	PROT:Q9Y305	ACOT9	E	312	Q	E312Q	Benign	0	21	11	40
MUT:ACOX1:Arg591Cys	PROT:Q15067	ACOX1	R	591	C	R591C	Benign/Likely benign	0	12	19	87
MUT:ACOX1:Asn237Ser	PROT:Q15067	ACOX1	N	237	S	N237S	Pathogenic/Likely pathogenic	1	3	19	5
MUT:ACOX1:Gln309Arg	PROT:Q15067	ACOX1	Q	309	R	Q309R	Pathogenic	1	1	19	1
MUT:ACOX1:Gly178Cys	PROT:Q15067	ACOX1	G	178	C	G178C	Pathogenic	1	1	19	4
MUT:ACOX1:Gly181Arg	PROT:Q15067	ACOX1	G	181	R	G181R	Likely pathogenic	1	1	19	7
MUT:ACOX1:Ile312Met	PROT:Q15067	ACOX1	I	312	M	I312M	Benign	0	2	19	1
MUT:ACOX1:Ile507Thr	PROT:Q15067	ACOX1	I	507	T	I507T	Benign	0	1	19	3
MUT:ACOX1:Met278Val	PROT:Q15067	ACOX1	M	278	V	M278V	Pathogenic	1	1	19	3
MUT:ACOX1:Pro27Leu	PROT:Q15067	ACOX1	P	27	L	P27L	Benign/Likely benign	0	1	19	1
MUT:ACOX1:Ser310Pro	PROT:Q15067	ACOX1	S	310	P	S310P	Likely pathogenic	1	1	19	0
MUT:ACOX2:Ala125Thr	PROT:Q99424	ACOX2	A	125	T	A125T	Benign	0	1	3	112
MUT:ACOX2:Ala316Thr	PROT:Q99424	ACOX2	A	316	T	A316T	Likely benign	0	1	3	101
MUT:ACOX2:Arg225Gln	PROT:Q99424	ACOX2	R	225	Q	R225Q	Likely pathogenic	1	1	3	192
MUT:ACOX2:Arg35Trp	PROT:Q99424	ACOX2	R	35	W	R35W	Likely benign	0	1	3	22
MUT:ACOX2:Gly284Ser	PROT:Q99424	ACOX2	G	284	S	G284S	Likely benign	0	1	3	133
MUT:ACOX2:Met396Val	PROT:Q99424	ACOX2	M	396	V	M396V	Likely benign	0	1	3	21
MUT:ACOX2:Pro61Leu	PROT:Q99424	ACOX2	P	61	L	P61L	Likely benign	0	1	3	48
MUT:ACOX2:Val33Met	PROT:Q99424	ACOX2	V	33	M	V33M	Likely benign	0	1	3	20
MUT:ACP6:Val127Met	PROT:Q9NPH0	ACP6	V	127	M	V127M	Likely pathogenic	1	1	3	96
MUT:ACSF3:Ala17Pro	PROT:Q4G176	ACSF3	A	17	P	A17P	Benign	0	2	9	145
MUT:ACSF3:Ala24Val	PROT:Q4G176	ACSF3	A	24	V	A24V	Likely benign	0	1	9	138
MUT:ACSF3:Ala405Thr	PROT:Q4G176	ACSF3	A	405	T	A405T	Likely benign	0	1	9	50
MUT:ACSF3:Ala486Thr	PROT:Q4G176	ACSF3	A	486	T	A486T	Likely benign	0	2	9	8
MUT:ACSF3:Arg523Gln	PROT:Q4G176	ACSF3	R	523	Q	R523Q	Likely benign	0	1	9	45
MUT:ACSF3:Arg558Trp	PROT:Q4G176	ACSF3	R	558	W	R558W	Pathogenic/Likely pathogenic	1	2	9	80
MUT:ACSF3:Gln465Arg	PROT:Q4G176	ACSF3	Q	465	R	Q465R	Likely benign	0	1	9	1
MUT:ACSF3:Glu359Gln	PROT:Q4G176	ACSF3	E	359	Q	E359Q	Likely pathogenic	1	1	9	4
MUT:ACSF3:Glu490Val	PROT:Q4G176	ACSF3	E	490	V	E490V	Likely pathogenic	1	1	9	12
MUT:ACSF3:Ile200Met	PROT:Q4G176	ACSF3	I	200	M	I200M	Benign/Likely benign	0	1	9	29
MUT:ACSF3:Leu21Pro	PROT:Q4G176	ACSF3	L	21	P	L21P	Likely benign	0	1	9	141
MUT:ACSF3:Leu2Pro	PROT:Q4G176	ACSF3	L	2	P	L2P	Benign	0	2	9	160
MUT:ACSF3:Met198Arg	PROT:Q4G176	ACSF3	M	198	R	M198R	Likely pathogenic	1	1	9	27
MUT:ACSF3:Met1Ile	PROT:Q4G176	ACSF3	M	1	I	M1I	Likely pathogenic	1	1	9	161
MUT:ACSF3:Met1Leu	PROT:Q4G176	ACSF3	M	1	L	M1L	Likely pathogenic	1	1	9	161
MUT:ACSF3:Pro285Leu	PROT:Q4G176	ACSF3	P	285	L	P285L	Benign/Likely benign	0	1	9	39
MUT:ACSF3:Ser40Leu	PROT:Q4G176	ACSF3	S	40	L	S40L	Likely benign	0	2	9	122
MUT:ACSF3:Thr370Ala	PROT:Q4G176	ACSF3	T	370	A	T370A	Likely benign	0	1	9	15
MUT:ACSF3:Thr521Ser	PROT:Q4G176	ACSF3	T	521	S	T521S	Likely benign	0	3	9	43
MUT:ACSF3:Val212Met	PROT:Q4G176	ACSF3	V	212	M	V212M	Likely pathogenic	1	1	9	41
MUT:ACSF3:Val372Met	PROT:Q4G176	ACSF3	V	372	M	V372M	Benign	0	2	9	17
MUT:ACTA1:Ala116Pro	PROT:P68133	ACTA1	A	116	P	A116P	Likely pathogenic	1	1	62	1
MUT:ACTA1:Ala116Thr	PROT:P68133	ACTA1	A	116	T	A116T	Likely pathogenic	1	1	62	1
MUT:ACTA1:Ala116Val	PROT:P68133	ACTA1	A	116	V	A116V	Likely pathogenic	1	1	62	1
MUT:ACTA1:Ala140Asp	PROT:P68133	ACTA1	A	140	D	A140D	Pathogenic/Likely pathogenic	1	1	62	5
MUT:ACTA1:Ala140Gly	PROT:P68133	ACTA1	A	140	G	A140G	Pathogenic	1	1	62	5
MUT:ACTA1:Ala172Glu	PROT:P68133	ACTA1	A	172	E	A172E	Pathogenic	1	1	62	1
MUT:ACTA1:Ala206Thr	PROT:P68133	ACTA1	A	206	T	A206T	Pathogenic/Likely pathogenic	1	1	62	2
MUT:ACTA1:Ala206Val	PROT:P68133	ACTA1	A	206	V	A206V	Pathogenic	1	1	62	2
MUT:ACTA1:Ala274Glu	PROT:P68133	ACTA1	A	274	E	A274E	Pathogenic	1	1	62	6
MUT:ACTA1:Ala274Val	PROT:P68133	ACTA1	A	274	V	A274V	Pathogenic/Likely pathogenic	1	3	62	6
MUT:ACTA1:Ala297Thr	PROT:P68133	ACTA1	A	297	T	A297T	Pathogenic	1	1	62	1
MUT:ACTA1:Arg179His	PROT:P68133	ACTA1	R	179	H	R179H	Likely pathogenic	1	1	62	8
MUT:ACTA1:Arg185Cys	PROT:P68133	ACTA1	R	185	C	R185C	Pathogenic	1	1	62	3
MUT:ACTA1:Arg185Ser	PROT:P68133	ACTA1	R	185	S	R185S	Pathogenic/Likely pathogenic	1	2	62	3
MUT:ACTA1:Arg198Cys	PROT:P68133	ACTA1	R	198	C	R198C	Likely pathogenic	1	1	62	2
MUT:ACTA1:Arg198His	PROT:P68133	ACTA1	R	198	H	R198H	Pathogenic/Likely pathogenic	1	2	62	2
MUT:ACTA1:Arg256Cys	PROT:P68133	ACTA1	R	256	C	R256C	Likely pathogenic	1	1	62	5
MUT:ACTA1:Arg256Gly	PROT:P68133	ACTA1	R	256	G	R256G	Likely pathogenic	1	2	62	5
MUT:ACTA1:Arg256His	PROT:P68133	ACTA1	R	256	H	R256H	Pathogenic	1	1	62	5
MUT:ACTA1:Arg258Cys	PROT:P68133	ACTA1	R	258	C	R258C	Pathogenic	1	1	62	4
MUT:ACTA1:Arg258Gly	PROT:P68133	ACTA1	R	258	G	R258G	Likely pathogenic	1	2	62	4
MUT:ACTA1:Arg258His	PROT:P68133	ACTA1	R	258	H	R258H	Pathogenic	1	1	62	4
MUT:ACTA1:Arg30Lys	PROT:P68133	ACTA1	R	30	K	R30K	Likely pathogenic	1	1	62	5
MUT:ACTA1:Arg97Gly	PROT:P68133	ACTA1	R	97	G	R97G	Likely pathogenic	1	1	62	4
MUT:ACTA1:Asn113Ser	PROT:P68133	ACTA1	N	113	S	N113S	Pathogenic	1	1	62	2
MUT:ACTA1:Asn117Ser	PROT:P68133	ACTA1	N	117	S	N117S	Pathogenic	1	1	62	2
MUT:ACTA1:Asn254Lys	PROT:P68133	ACTA1	N	254	K	N254K	Likely pathogenic	1	1	62	3
MUT:ACTA1:Asn282His	PROT:P68133	ACTA1	N	282	H	N282H	Likely pathogenic	1	1	62	1
MUT:ACTA1:Asn282Lys	PROT:P68133	ACTA1	N	282	K	N282K	Pathogenic	1	1	62	1
MUT:ACTA1:Asn94Lys	PROT:P68133	ACTA1	N	94	K	N94K	Pathogenic	1	1	62	1
MUT:ACTA1:Asn94Tyr	PROT:P68133	ACTA1	N	94	Y	N94Y	Pathogenic	1	1	62	1
MUT:ACTA1:Asp13Asn	PROT:P68133	ACTA1	D	13	N	D13N	Likely pathogenic	1	2	62	5
MUT:ACTA1:Asp156His	PROT:P68133	ACTA1	D	156	H	D156H	Pathogenic	1	1	62	5
MUT:ACTA1:Asp181His	PROT:P68133	ACTA1	D	181	H	D181H	Pathogenic	1	2	62	7
MUT:ACTA1:Asp181Tyr	PROT:P68133	ACTA1	D	181	Y	D181Y	Likely pathogenic	1	1	62	7
MUT:ACTA1:Asp186Asn	PROT:P68133	ACTA1	D	186	N	D186N	Likely pathogenic	1	1	62	2
MUT:ACTA1:Asp186Gly	PROT:P68133	ACTA1	D	186	G	D186G	Pathogenic	1	1	62	2
MUT:ACTA1:Asp186His	PROT:P68133	ACTA1	D	186	H	D186H	Likely pathogenic	1	1	62	2
MUT:ACTA1:Asp27Asn	PROT:P68133	ACTA1	D	27	N	D27N	Pathogenic	1	1	62	8
MUT:ACTA1:Asp27Gly	PROT:P68133	ACTA1	D	27	G	D27G	Pathogenic	1	1	62	8
MUT:ACTA1:Asp288Gly	PROT:P68133	ACTA1	D	288	G	D288G	Pathogenic	1	1	62	5
MUT:ACTA1:Asp290Asn	PROT:P68133	ACTA1	D	290	N	D290N	Pathogenic	1	1	62	3
MUT:ACTA1:Asp290His	PROT:P68133	ACTA1	D	290	H	D290H	Pathogenic	1	2	62	3
MUT:ACTA1:Asp294Val	PROT:P68133	ACTA1	D	294	V	D294V	Pathogenic	1	3	62	1
MUT:ACTA1:Asp3Tyr	PROT:P68133	ACTA1	D	3	Y	D3Y	Pathogenic	1	1	62	0
MUT:ACTA1:Asp58Asn	PROT:P68133	ACTA1	D	58	N	D58N	Likely pathogenic	1	2	62	3
MUT:ACTA1:Cys376Phe	PROT:P68133	ACTA1	C	376	F	C376F	Likely pathogenic	1	2	62	1
MUT:ACTA1:Cys376Ser	PROT:P68133	ACTA1	C	376	S	C376S	Pathogenic	1	1	62	1
MUT:ACTA1:Gln265Arg	PROT:P68133	ACTA1	Q	265	R	Q265R	Pathogenic	1	1	62	2
MUT:ACTA1:Gln265His	PROT:P68133	ACTA1	Q	265	H	Q265H	Likely pathogenic	1	1	62	2
MUT:ACTA1:Gln43Arg	PROT:P68133	ACTA1	Q	43	R	Q43R	Pathogenic	1	1	62	8
MUT:ACTA1:Glu102Lys	PROT:P68133	ACTA1	E	102	K	E102K	Likely pathogenic	1	3	62	9
MUT:ACTA1:Glu109Asp	PROT:P68133	ACTA1	E	109	D	E109D	Likely pathogenic	1	1	62	6
MUT:ACTA1:Glu119Gln	PROT:P68133	ACTA1	E	119	Q	E119Q	Likely pathogenic	1	1	62	4
MUT:ACTA1:Glu197Asp	PROT:P68133	ACTA1	E	197	D	E197D	Pathogenic	1	2	62	1
MUT:ACTA1:Glu197Lys	PROT:P68133	ACTA1	E	197	K	E197K	Likely pathogenic	1	1	62	1
MUT:ACTA1:Glu207Val	PROT:P68133	ACTA1	E	207	V	E207V	Pathogenic	1	1	62	3
MUT:ACTA1:Glu226Gln	PROT:P68133	ACTA1	E	226	Q	E226Q	Pathogenic/Likely pathogenic	1	1	62	6
MUT:ACTA1:Glu228Gln	PROT:P68133	ACTA1	E	228	Q	E228Q	Pathogenic/Likely pathogenic	1	2	62	7
MUT:ACTA1:Glu255Gln	PROT:P68133	ACTA1	E	255	Q	E255Q	Likely pathogenic	1	1	62	4
MUT:ACTA1:Glu261Val	PROT:P68133	ACTA1	E	261	V	E261V	Pathogenic/Likely pathogenic	1	3	62	1
MUT:ACTA1:Glu278Asp	PROT:P68133	ACTA1	E	278	D	E278D	Likely pathogenic	1	1	62	2
MUT:ACTA1:Glu336Ala	PROT:P68133	ACTA1	E	336	A	E336A	Likely pathogenic	1	2	62	6
MUT:ACTA1:Glu336Asp	PROT:P68133	ACTA1	E	336	D	E336D	Likely pathogenic	1	1	62	6
MUT:ACTA1:Glu59Lys	PROT:P68133	ACTA1	E	59	K	E59K	Likely pathogenic	1	2	62	3
MUT:ACTA1:Glu6Lys	PROT:P68133	ACTA1	E	6	K	E6K	Pathogenic/Likely pathogenic	1	4	62	1
MUT:ACTA1:Glu95Gly	PROT:P68133	ACTA1	E	95	G	E95G	Pathogenic	1	1	62	2
MUT:ACTA1:Glu95Lys	PROT:P68133	ACTA1	E	95	K	E95K	Pathogenic	1	3	62	2
MUT:ACTA1:Glu95Val	PROT:P68133	ACTA1	E	95	V	E95V	Likely pathogenic	1	1	62	2
MUT:ACTA1:Gly148Arg	PROT:P68133	ACTA1	G	148	R	G148R	Likely pathogenic	1	2	62	2
MUT:ACTA1:Gly148Ser	PROT:P68133	ACTA1	G	148	S	G148S	Likely pathogenic	1	2	62	2
MUT:ACTA1:Gly148Val	PROT:P68133	ACTA1	G	148	V	G148V	Likely pathogenic	1	3	62	2
MUT:ACTA1:Gly160Ser	PROT:P68133	ACTA1	G	160	S	G160S	Pathogenic/Likely pathogenic	1	1	62	8
MUT:ACTA1:Gly170Asp	PROT:P68133	ACTA1	G	170	D	G170D	Pathogenic	1	1	62	1
MUT:ACTA1:Gly17Arg	PROT:P68133	ACTA1	G	17	R	G17R	Pathogenic/Likely pathogenic	1	1	62	9
MUT:ACTA1:Gly17Asp	PROT:P68133	ACTA1	G	17	D	G17D	Pathogenic	1	1	62	9
MUT:ACTA1:Gly17Ser	PROT:P68133	ACTA1	G	17	S	G17S	Pathogenic	1	1	62	9
MUT:ACTA1:Gly247Arg	PROT:P68133	ACTA1	G	247	R	G247R	Pathogenic	1	2	62	4
MUT:ACTA1:Gly253Asp	PROT:P68133	ACTA1	G	253	D	G253D	Likely pathogenic	1	1	62	2
MUT:ACTA1:Gly270Arg	PROT:P68133	ACTA1	G	270	R	G270R	Pathogenic	1	2	62	3
MUT:ACTA1:Gly270Asp	PROT:P68133	ACTA1	G	270	D	G270D	Pathogenic/Likely pathogenic	1	3	62	3
MUT:ACTA1:Gly270Cys	PROT:P68133	ACTA1	G	270	C	G270C	Pathogenic	1	1	62	3
MUT:ACTA1:Gly270Ser	PROT:P68133	ACTA1	G	270	S	G270S	Pathogenic	1	2	62	3
MUT:ACTA1:Gly38Ala	PROT:P68133	ACTA1	G	38	A	G38A	Pathogenic	1	1	62	3
MUT:ACTA1:Gly38Asp	PROT:P68133	ACTA1	G	38	D	G38D	Likely pathogenic	1	1	62	3
MUT:ACTA1:Gly38Cys	PROT:P68133	ACTA1	G	38	C	G38C	Likely pathogenic	1	1	62	3
MUT:ACTA1:Gly48Ala	PROT:P68133	ACTA1	G	48	A	G48A	Pathogenic/Likely pathogenic	1	3	62	4
MUT:ACTA1:Gly48Arg	PROT:P68133	ACTA1	G	48	R	G48R	Likely pathogenic	1	1	62	4
MUT:ACTA1:Gly48Asp	PROT:P68133	ACTA1	G	48	D	G48D	Pathogenic	1	3	62	4
MUT:ACTA1:Gly48Ser	PROT:P68133	ACTA1	G	48	S	G48S	Pathogenic/Likely pathogenic	1	1	62	4
MUT:ACTA1:Gly48Val	PROT:P68133	ACTA1	G	48	V	G48V	Pathogenic	1	1	62	4
MUT:ACTA1:Gly57Arg	PROT:P68133	ACTA1	G	57	R	G57R	Pathogenic	1	1	62	2
MUT:ACTA1:Gly65Val	PROT:P68133	ACTA1	G	65	V	G65V	Likely pathogenic	1	1	62	2
MUT:ACTA1:Gly76Arg	PROT:P68133	ACTA1	G	76	R	G76R	Pathogenic/Likely pathogenic	1	2	62	3
MUT:ACTA1:Gly76Asp	PROT:P68133	ACTA1	G	76	D	G76D	Pathogenic	1	2	62	3
MUT:ACTA1:His163Arg	PROT:P68133	ACTA1	H	163	R	H163R	Pathogenic	1	1	62	5
MUT:ACTA1:His163Gln	PROT:P68133	ACTA1	H	163	Q	H163Q	Pathogenic	1	1	62	5
MUT:ACTA1:His42Tyr	PROT:P68133	ACTA1	H	42	Y	H42Y	Pathogenic	1	3	62	7
MUT:ACTA1:Ile138Asn	PROT:P68133	ACTA1	I	138	N	I138N	Likely pathogenic	1	1	62	7
MUT:ACTA1:Ile138Met	PROT:P68133	ACTA1	I	138	M	I138M	Likely pathogenic	1	2	62	7
MUT:ACTA1:Ile177Val	PROT:P68133	ACTA1	I	177	V	I177V	Likely pathogenic	1	1	62	6
MUT:ACTA1:Ile359Leu	PROT:P68133	ACTA1	I	359	L	I359L	Pathogenic	1	2	62	1
MUT:ACTA1:Ile359Val	PROT:P68133	ACTA1	I	359	V	I359V	Likely pathogenic	1	1	62	1
MUT:ACTA1:Ile66Asn	PROT:P68133	ACTA1	I	66	N	I66N	Pathogenic/Likely pathogenic	1	1	62	2
MUT:ACTA1:Ile66Ser	PROT:P68133	ACTA1	I	66	S	I66S	Likely pathogenic	1	1	62	2
MUT:ACTA1:Ile73Ser	PROT:P68133	ACTA1	I	73	S	I73S	Likely pathogenic	1	1	62	2
MUT:ACTA1:Ile87Phe	PROT:P68133	ACTA1	I	87	F	I87F	Likely pathogenic	1	1	62	1
MUT:ACTA1:Leu106Pro	PROT:P68133	ACTA1	L	106	P	L106P	Likely pathogenic	1	1	62	9
MUT:ACTA1:Leu142Pro	PROT:P68133	ACTA1	L	142	P	L142P	Pathogenic	1	1	62	3
MUT:ACTA1:Leu144Phe	PROT:P68133	ACTA1	L	144	F	L144F	Pathogenic/Likely pathogenic	1	1	62	1
MUT:ACTA1:Leu223Pro	PROT:P68133	ACTA1	L	223	P	L223P	Likely pathogenic	1	3	62	3
MUT:ACTA1:Leu348Gln	PROT:P68133	ACTA1	L	348	Q	L348Q	Likely pathogenic	1	2	62	12
MUT:ACTA1:Leu96Pro	PROT:P68133	ACTA1	L	96	P	L96P	Pathogenic/Likely pathogenic	1	3	62	3
MUT:ACTA1:Leu96Val	PROT:P68133	ACTA1	L	96	V	L96V	Likely pathogenic	1	1	62	3
MUT:ACTA1:Lys120Met	PROT:P68133	ACTA1	K	120	M	K120M	Pathogenic	1	1	62	5
MUT:ACTA1:Lys20Asn	PROT:P68133	ACTA1	K	20	N	K20N	Pathogenic	1	1	62	12
MUT:ACTA1:Lys328Asn	PROT:P68133	ACTA1	K	328	N	K328N	Pathogenic	1	1	62	0
MUT:ACTA1:Lys375Asn	PROT:P68133	ACTA1	K	375	N	K375N	Likely pathogenic	1	1	62	0
MUT:ACTA1:Lys375Glu	PROT:P68133	ACTA1	K	375	E	K375E	Likely pathogenic	1	1	62	0
MUT:ACTA1:Lys70Arg	PROT:P68133	ACTA1	K	70	R	K70R	Pathogenic	1	1	62	0
MUT:ACTA1:Met134Ile	PROT:P68133	ACTA1	M	134	I	M134I	Likely pathogenic	1	1	62	11
MUT:ACTA1:Met134Val	PROT:P68133	ACTA1	M	134	V	M134V	Pathogenic	1	1	62	11
MUT:ACTA1:Met229Leu	PROT:P68133	ACTA1	M	229	L	M229L	Likely pathogenic	1	2	62	6
MUT:ACTA1:Met229Thr	PROT:P68133	ACTA1	M	229	T	M229T	Pathogenic	1	3	62	6
MUT:ACTA1:Met229Val	PROT:P68133	ACTA1	M	229	V	M229V	Pathogenic	1	2	62	6
MUT:ACTA1:Met271Arg	PROT:P68133	ACTA1	M	271	R	M271R	Likely pathogenic	1	1	62	4
MUT:ACTA1:Met285Arg	PROT:P68133	ACTA1	M	285	R	M285R	Pathogenic/Likely pathogenic	1	1	62	2
MUT:ACTA1:Met307Arg	PROT:P68133	ACTA1	M	307	R	M307R	Pathogenic	1	1	62	10
MUT:ACTA1:Met327Lys	PROT:P68133	ACTA1	M	327	K	M327K	Likely pathogenic	1	1	62	1
MUT:ACTA1:Met46Thr	PROT:P68133	ACTA1	M	46	T	M46T	Pathogenic/Likely pathogenic	1	2	62	6
MUT:ACTA1:Met49Arg	PROT:P68133	ACTA1	M	49	R	M49R	Pathogenic	1	1	62	3
MUT:ACTA1:Met49Val	PROT:P68133	ACTA1	M	49	V	M49V	Pathogenic	1	1	62	3
MUT:ACTA1:Phe257Leu	PROT:P68133	ACTA1	F	257	L	F257L	Likely pathogenic	1	1	62	5
MUT:ACTA1:Phe268Ser	PROT:P68133	ACTA1	F	268	S	F268S	Pathogenic	1	1	62	1
MUT:ACTA1:Phe354Leu	PROT:P68133	ACTA1	F	354	L	F354L	Likely pathogenic	1	1	62	6
MUT:ACTA1:Phe377Ser	PROT:P68133	ACTA1	F	377	S	F377S	Likely pathogenic	1	1	62	2
MUT:ACTA1:Pro174Leu	PROT:P68133	ACTA1	P	174	L	P174L	Likely pathogenic	1	1	62	3
MUT:ACTA1:Pro309Ala	PROT:P68133	ACTA1	P	309	A	P309A	Pathogenic	1	1	62	8
MUT:ACTA1:Pro309Ser	PROT:P68133	ACTA1	P	309	S	P309S	Likely pathogenic	1	1	62	8
MUT:ACTA1:Pro334Arg	PROT:P68133	ACTA1	P	334	R	P334R	Pathogenic	1	2	62	4
MUT:ACTA1:Pro334Leu	PROT:P68133	ACTA1	P	334	L	P334L	Likely pathogenic	1	2	62	4
MUT:ACTA1:Pro334Ser	PROT:P68133	ACTA1	P	334	S	P334S	Pathogenic	1	5	62	4
MUT:ACTA1:Pro335Ala	PROT:P68133	ACTA1	P	335	A	P335A	Likely pathogenic	1	1	62	5
MUT:ACTA1:Pro335Arg	PROT:P68133	ACTA1	P	335	R	P335R	Likely pathogenic	1	1	62	5
MUT:ACTA1:Pro335Leu	PROT:P68133	ACTA1	P	335	L	P335L	Pathogenic/Likely pathogenic	1	1	62	5
MUT:ACTA1:Pro369Leu	PROT:P68133	ACTA1	P	369	L	P369L	Pathogenic	1	2	62	1
MUT:ACTA1:Pro72Arg	PROT:P68133	ACTA1	P	72	R	P72R	Pathogenic/Likely pathogenic	1	1	62	1
MUT:ACTA1:Ser143Pro	PROT:P68133	ACTA1	S	143	P	S143P	Pathogenic/Likely pathogenic	1	1	62	2
MUT:ACTA1:Ser147Phe	PROT:P68133	ACTA1	S	147	F	S147F	Pathogenic/Likely pathogenic	1	2	62	2
MUT:ACTA1:Ser147Tyr	PROT:P68133	ACTA1	S	147	Y	S147Y	Pathogenic/Likely pathogenic	1	2	62	2
MUT:ACTA1:Ser235Tyr	PROT:P68133	ACTA1	S	235	Y	S235Y	Pathogenic	1	1	62	0
MUT:ACTA1:Ser241Arg	PROT:P68133	ACTA1	S	241	R	S241R	Likely pathogenic	1	1	62	0
MUT:ACTA1:Ser350Leu	PROT:P68133	ACTA1	S	350	L	S350L	Pathogenic	1	1	62	10
MUT:ACTA1:Ser352Pro	PROT:P68133	ACTA1	S	352	P	S352P	Likely pathogenic	1	2	62	8
MUT:ACTA1:Thr122Pro	PROT:P68133	ACTA1	T	122	P	T122P	Likely pathogenic	1	1	62	7
MUT:ACTA1:Thr150Ser	PROT:P68133	ACTA1	T	150	S	T150S	Pathogenic	1	2	62	0
MUT:ACTA1:Thr196Pro	PROT:P68133	ACTA1	T	196	P	T196P	Likely pathogenic	1	1	62	0
MUT:ACTA1:Thr204Ile	PROT:P68133	ACTA1	T	204	I	T204I	Pathogenic	1	1	62	0
MUT:ACTA1:Thr353Ile	PROT:P68133	ACTA1	T	353	I	T353I	Likely pathogenic	1	1	62	7
MUT:ACTA1:Thr68Asn	PROT:P68133	ACTA1	T	68	N	T68N	Pathogenic	1	1	62	0
MUT:ACTA1:Thr79Ile	PROT:P68133	ACTA1	T	79	I	T79I	Pathogenic/Likely pathogenic	1	1	62	0
MUT:ACTA1:Trp358Cys	PROT:P68133	ACTA1	W	358	C	W358C	Likely pathogenic	1	2	62	2
MUT:ACTA1:Tyr200Asn	PROT:P68133	ACTA1	Y	200	N	Y200N	Pathogenic	1	1	62	0
MUT:ACTA1:Tyr200Cys	PROT:P68133	ACTA1	Y	200	C	Y200C	Pathogenic	1	1	62	0
MUT:ACTA1:Tyr281Cys	PROT:P68133	ACTA1	Y	281	C	Y281C	Pathogenic	1	1	62	0
MUT:ACTA1:Tyr281His	PROT:P68133	ACTA1	Y	281	H	Y281H	Pathogenic	1	3	62	0
MUT:ACTA1:Tyr71Asn	PROT:P68133	ACTA1	Y	71	N	Y71N	Pathogenic	1	1	62	0
MUT:ACTA1:Val154Ala	PROT:P68133	ACTA1	V	154	A	V154A	Pathogenic	1	1	62	3
MUT:ACTA1:Val154Leu	PROT:P68133	ACTA1	V	154	L	V154L	Likely pathogenic	1	3	62	3
MUT:ACTA1:Val165Leu	PROT:P68133	ACTA1	V	165	L	V165L	Pathogenic	1	3	62	3
MUT:ACTA1:Val165Met	PROT:P68133	ACTA1	V	165	M	V165M	Pathogenic	1	2	62	3
MUT:ACTA1:Val37Leu	PROT:P68133	ACTA1	V	37	L	V37L	Pathogenic	1	2	62	2
MUT:ACTA1:Val45Phe	PROT:P68133	ACTA1	V	45	F	V45F	Pathogenic/Likely pathogenic	1	1	62	7
MUT:ACTA1:Val47Glu	PROT:P68133	ACTA1	V	47	E	V47E	Likely pathogenic	1	1	62	5
MUT:ACTL6A:Leu380Val	PROT:O96019	ACTL6A	L	380	V	L380V	Benign	0	2	15	1
MUT:ACTL6A:Ser326Gly	PROT:O96019	ACTL6A	S	326	G	S326G	Likely benign	0	1	15	45
MUT:ACTL6A:Val218Ile	PROT:O96019	ACTL6A	V	218	I	V218I	Likely benign	0	1	15	8
MUT:ACTL9:Arg400Gln	PROT:Q8TC94	ACTL9	R	400	Q	R400Q	Likely benign	0	1	1	15
MUT:ACTL9:Ser345Leu	PROT:Q8TC94	ACTL9	S	345	L	S345L	Pathogenic	1	1	1	40
MUT:ACTL9:Val380Leu	PROT:Q8TC94	ACTL9	V	380	L	V380L	Pathogenic	1	1	1	5
MUT:ACTN1:Ala432Val	PROT:P12814	ACTN1	A	432	V	A432V	Likely pathogenic	1	1	59	1
MUT:ACTN1:Arg291His	PROT:P12814	ACTN1	R	291	H	R291H	Benign	0	1	59	7
MUT:ACTN1:Arg450Cys	PROT:P12814	ACTN1	R	450	C	R450C	Pathogenic/Likely pathogenic	1	1	59	8
MUT:ACTN1:Arg46Gln	PROT:P12814	ACTN1	R	46	Q	R46Q	Pathogenic/Likely pathogenic	1	2	59	1
MUT:ACTN1:Arg46Trp	PROT:P12814	ACTN1	R	46	W	R46W	Pathogenic/Likely pathogenic	1	4	59	1
MUT:ACTN1:Asn485Ser	PROT:P12814	ACTN1	N	485	S	N485S	Benign/Likely benign	0	1	59	7
MUT:ACTN1:Asn703Ser	PROT:P12814	ACTN1	N	703	S	N703S	Likely benign	0	1	59	5
MUT:ACTN1:Asp531Val	PROT:P12814	ACTN1	D	531	V	D531V	Likely pathogenic	1	1	59	17
MUT:ACTN1:Gln329Arg	PROT:P12814	ACTN1	Q	329	R	Q329R	Likely pathogenic	1	1	59	2
MUT:ACTN1:Gln32Lys	PROT:P12814	ACTN1	Q	32	K	Q32K	Pathogenic	1	1	59	1
MUT:ACTN1:Glu114Asp	PROT:P12814	ACTN1	E	114	D	E114D	Likely pathogenic	1	1	59	5
MUT:ACTN1:Glu225Lys	PROT:P12814	ACTN1	E	225	K	E225K	Pathogenic	1	2	59	5
MUT:ACTN1:Gly910Arg	PROT:P12814	ACTN1	G	910	R	G910R	Likely pathogenic	1	1	59	66
MUT:ACTN1:His622Tyr	PROT:P12814	ACTN1	H	622	Y	H622Y	Likely pathogenic	1	1	59	86
MUT:ACTN1:Ile130Val	PROT:P12814	ACTN1	I	130	V	I130V	Likely pathogenic	1	1	59	10
MUT:ACTN1:Leu395Gln	PROT:P12814	ACTN1	L	395	Q	L395Q	Likely pathogenic	1	1	59	3
MUT:ACTN1:Lys324Glu	PROT:P12814	ACTN1	K	324	E	K324E	Likely pathogenic	1	1	59	0
MUT:ACTN1:Lys398Thr	PROT:P12814	ACTN1	K	398	T	K398T	Likely pathogenic	1	1	59	0
MUT:ACTN1:Met867Val	PROT:P12814	ACTN1	M	867	V	M867V	Likely benign	0	1	59	23
MUT:ACTN1:Ser43Thr	PROT:P12814	ACTN1	S	43	T	S43T	Likely pathogenic	1	1	59	4
MUT:ACTN1:Trp128Cys	PROT:P12814	ACTN1	W	128	C	W128C	Pathogenic	1	1	59	12
MUT:ACTN1:Val105Ile	PROT:P12814	ACTN1	V	105	I	V105I	Pathogenic/Likely pathogenic	1	2	59	1
MUT:ACTN1:Val851Ile	PROT:P12814	ACTN1	V	851	I	V851I	Likely pathogenic	1	1	59	7
MUT:ACTN4:Ala165Thr	PROT:O43707	ACTN4	A	165	T	A165T	Likely pathogenic	1	1	76	16
MUT:ACTN4:Arg310Gln	PROT:O43707	ACTN4	R	310	Q	R310Q	Benign/Likely benign	0	3	76	2
MUT:ACTN4:Arg410Gln	PROT:O43707	ACTN4	R	410	Q	R410Q	Likely benign	0	2	76	13
MUT:ACTN4:Arg805Trp	PROT:O43707	ACTN4	R	805	W	R805W	Likely benign	0	1	76	9
MUT:ACTN4:Asn20Ser	PROT:O43707	ACTN4	N	20	S	N20S	Likely benign	0	1	76	7
MUT:ACTN4:Asp253Asn	PROT:O43707	ACTN4	D	253	N	D253N	Likely pathogenic	1	1	76	4
MUT:ACTN4:Asp890Glu	PROT:O43707	ACTN4	D	890	E	D890E	Benign	0	2	76	8
MUT:ACTN4:Cys173Arg	PROT:O43707	ACTN4	C	173	R	C173R	Likely pathogenic	1	1	76	8
MUT:ACTN4:Glu442Lys	PROT:O43707	ACTN4	E	442	K	E442K	Likely benign	0	1	76	10
MUT:ACTN4:Gly195Asp	PROT:O43707	ACTN4	G	195	D	G195D	Pathogenic	1	1	76	4
MUT:ACTN4:Gly195Val	PROT:O43707	ACTN4	G	195	V	G195V	Pathogenic	1	1	76	4
MUT:ACTN4:His203Pro	PROT:O43707	ACTN4	H	203	P	H203P	Likely pathogenic	1	1	76	12
MUT:ACTN4:His530Gln	PROT:O43707	ACTN4	H	530	Q	H530Q	Likely benign	0	1	76	3
MUT:ACTN4:Leu169Arg	PROT:O43707	ACTN4	L	169	R	L169R	Likely pathogenic	1	1	76	12
MUT:ACTN4:Lys255Glu	PROT:O43707	ACTN4	K	255	E	K255E	Pathogenic	1	1	76	5
MUT:ACTN4:Met240Val	PROT:O43707	ACTN4	M	240	V	M240V	Likely pathogenic	1	1	76	1
MUT:ACTN4:Met258Thr	PROT:O43707	ACTN4	M	258	T	M258T	Likely pathogenic	1	1	76	2
MUT:ACTN4:Phe153Ser	PROT:O43707	ACTN4	F	153	S	F153S	Likely pathogenic	1	1	76	28
MUT:ACTN4:Phe654Leu	PROT:O43707	ACTN4	F	654	L	F654L	Likely benign	0	1	76	2
MUT:ACTN4:Pro179Leu	PROT:O43707	ACTN4	P	179	L	P179L	Benign/Likely benign	0	2	76	2
MUT:ACTN4:Ser262Pro	PROT:O43707	ACTN4	S	262	P	S262P	Pathogenic	1	1	76	0
MUT:ACTN4:Thr259Ile	PROT:O43707	ACTN4	T	259	I	T259I	Pathogenic	1	1	76	1
MUT:ACTN4:Trp59Arg	PROT:O43707	ACTN4	W	59	R	W59R	Likely pathogenic	1	1	76	5
MUT:ACTN4:Val801Met	PROT:O43707	ACTN4	V	801	M	V801M	Benign/Likely benign	0	2	76	5
MUT:ACVR1:Ala15Gly	PROT:Q04771	ACVR1	A	15	G	A15G	Benign/Likely benign	0	1	8	188
MUT:ACVR1:Ala383Val	PROT:Q04771	ACVR1	A	383	V	A383V	Likely benign	0	1	8	43
MUT:ACVR1:Arg202Ile	PROT:Q04771	ACVR1	R	202	I	R202I	Pathogenic	1	1	8	1
MUT:ACVR1:Arg206His	PROT:Q04771	ACVR1	R	206	H	R206H	Pathogenic	1	6	8	3
MUT:ACVR1:Arg258Gly	PROT:Q04771	ACVR1	R	258	G	R258G	Likely pathogenic	1	1	8	32
MUT:ACVR1:Arg258Ser	PROT:Q04771	ACVR1	R	258	S	R258S	Pathogenic	1	1	8	32
MUT:ACVR1:Arg375Pro	PROT:Q04771	ACVR1	R	375	P	R375P	Pathogenic	1	1	8	35
MUT:ACVR1:Gly328Arg	PROT:Q04771	ACVR1	G	328	R	G328R	Pathogenic	1	2	8	12
MUT:ACVR1:Gly328Glu	PROT:Q04771	ACVR1	G	328	E	G328E	Pathogenic/Likely pathogenic	1	3	8	12
MUT:ACVR1:Gly328Trp	PROT:Q04771	ACVR1	G	328	W	G328W	Pathogenic	1	1	8	12
MUT:ACVR1:Gly356Asp	PROT:Q04771	ACVR1	G	356	D	G356D	Pathogenic	1	2	8	16
MUT:ACVR1:Gly43Ser	PROT:Q04771	ACVR1	G	43	S	G43S	Likely benign	0	1	8	160
MUT:ACVR1:His47Gln	PROT:Q04771	ACVR1	H	47	Q	H47Q	Benign/Likely benign	0	3	8	156
MUT:ACVR1:Ile12Met	PROT:Q04771	ACVR1	I	12	M	I12M	Likely benign	0	1	8	191
MUT:ACVR1:Leu196Pro	PROT:Q04771	ACVR1	L	196	P	L196P	Pathogenic	1	1	8	7
MUT:ACVR1:Pro26Ser	PROT:Q04771	ACVR1	P	26	S	P26S	Benign	0	1	8	177
MUT:ACVR1:Val162Met	PROT:Q04771	ACVR1	V	162	M	V162M	Benign/Likely benign	0	1	8	41
MUT:ACVR1B:Met304Ile	PROT:P36896	ACVR1B	M	304	I	M304I	Pathogenic	1	1	8	35
MUT:ACVR2B:Arg161Gln	PROT:Q13705	ACVR2B	R	161	Q	R161Q	Likely benign	0	1	3	63
MUT:ACVR2B:Arg383Cys	PROT:Q13705	ACVR2B	R	383	C	R383C	Likely pathogenic	1	1	3	107
MUT:ACVR2B:Arg383His	PROT:Q13705	ACVR2B	R	383	H	R383H	Likely pathogenic	1	1	3	107
MUT:ACVR2B:Arg40His	PROT:Q13705	ACVR2B	R	40	H	R40H	Benign/Likely benign	0	1	3	184
MUT:ACVR2B:Arg482Trp	PROT:Q13705	ACVR2B	R	482	W	R482W	Benign/Likely benign	0	1	3	8
MUT:ACVR2B:Leu493Phe	PROT:Q13705	ACVR2B	L	493	F	L493F	Likely benign	0	1	3	3
MUT:ACVRL1:Ala306Pro	PROT:P37023	ACVRL1	A	306	P	A306P	Pathogenic/Likely pathogenic	1	1	5	69
MUT:ACVRL1:Ala327Asp	PROT:P37023	ACVRL1	A	327	D	A327D	Pathogenic	1	1	5	48
MUT:ACVRL1:Ala347Pro	PROT:P37023	ACVRL1	A	347	P	A347P	Likely pathogenic	1	1	5	28
MUT:ACVRL1:Ala352Asp	PROT:P37023	ACVRL1	A	352	D	A352D	Pathogenic/Likely pathogenic	1	2	5	23
MUT:ACVRL1:Ala352Val	PROT:P37023	ACVRL1	A	352	V	A352V	Likely pathogenic	1	1	5	23
MUT:ACVRL1:Ala377Thr	PROT:P37023	ACVRL1	A	377	T	A377T	Pathogenic	1	1	5	2
MUT:ACVRL1:Ala377Val	PROT:P37023	ACVRL1	A	377	V	A377V	Pathogenic/Likely pathogenic	1	2	5	2
MUT:ACVRL1:Ala400Asp	PROT:P37023	ACVRL1	A	400	D	A400D	Pathogenic/Likely pathogenic	1	1	5	12
MUT:ACVRL1:Ala400Pro	PROT:P37023	ACVRL1	A	400	P	A400P	Likely pathogenic	1	1	5	12
MUT:ACVRL1:Ala400Thr	PROT:P37023	ACVRL1	A	400	T	A400T	Pathogenic/Likely pathogenic	1	1	5	12
MUT:ACVRL1:Ala400Val	PROT:P37023	ACVRL1	A	400	V	A400V	Pathogenic/Likely pathogenic	1	1	5	12
MUT:ACVRL1:Ala478Asp	PROT:P37023	ACVRL1	A	478	D	A478D	Pathogenic	1	1	5	38
MUT:ACVRL1:Ala482Glu	PROT:P37023	ACVRL1	A	482	E	A482E	Pathogenic	1	1	5	42
MUT:ACVRL1:Ala482Val	PROT:P37023	ACVRL1	A	482	V	A482V	Likely benign	0	4	5	42
MUT:ACVRL1:Arg196Gly	PROT:P37023	ACVRL1	R	196	G	R196G	Pathogenic	1	1	5	179
MUT:ACVRL1:Arg200Gly	PROT:P37023	ACVRL1	R	200	G	R200G	Pathogenic	1	1	5	175
MUT:ACVRL1:Arg218Trp	PROT:P37023	ACVRL1	R	218	W	R218W	Likely benign	0	3	5	157
MUT:ACVRL1:Arg329His	PROT:P37023	ACVRL1	R	329	H	R329H	Pathogenic/Likely pathogenic	1	1	5	46
MUT:ACVRL1:Arg374Gln	PROT:P37023	ACVRL1	R	374	Q	R374Q	Pathogenic	1	2	5	1
MUT:ACVRL1:Arg374Gly	PROT:P37023	ACVRL1	R	374	G	R374G	Likely pathogenic	1	1	5	1
MUT:ACVRL1:Arg374Pro	PROT:P37023	ACVRL1	R	374	P	R374P	Likely pathogenic	1	1	5	1
MUT:ACVRL1:Arg374Trp	PROT:P37023	ACVRL1	R	374	W	R374W	Pathogenic/Likely pathogenic	1	3	5	1
MUT:ACVRL1:Arg411Gln	PROT:P37023	ACVRL1	R	411	Q	R411Q	Pathogenic	1	3	5	1
MUT:ACVRL1:Arg411Pro	PROT:P37023	ACVRL1	R	411	P	R411P	Pathogenic	1	1	5	1
MUT:ACVRL1:Arg411Trp	PROT:P37023	ACVRL1	R	411	W	R411W	Pathogenic/Likely pathogenic	1	2	5	1
MUT:ACVRL1:Arg479Gln	PROT:P37023	ACVRL1	R	479	Q	R479Q	Pathogenic/Likely pathogenic	1	2	5	39
MUT:ACVRL1:Arg479Gly	PROT:P37023	ACVRL1	R	479	G	R479G	Likely pathogenic	1	1	5	39
MUT:ACVRL1:Arg479Pro	PROT:P37023	ACVRL1	R	479	P	R479P	Pathogenic	1	2	5	39
MUT:ACVRL1:Arg47Pro	PROT:P37023	ACVRL1	R	47	P	R47P	Pathogenic/Likely pathogenic	1	1	5	328
MUT:ACVRL1:Arg484Gln	PROT:P37023	ACVRL1	R	484	Q	R484Q	Pathogenic	1	3	5	44
MUT:ACVRL1:Arg484Gly	PROT:P37023	ACVRL1	R	484	G	R484G	Pathogenic/Likely pathogenic	1	2	5	44
MUT:ACVRL1:Arg484Leu	PROT:P37023	ACVRL1	R	484	L	R484L	Pathogenic/Likely pathogenic	1	2	5	44
MUT:ACVRL1:Arg484Pro	PROT:P37023	ACVRL1	R	484	P	R484P	Pathogenic/Likely pathogenic	1	1	5	44
MUT:ACVRL1:Arg484Trp	PROT:P37023	ACVRL1	R	484	W	R484W	Pathogenic	1	3	5	44
MUT:ACVRL1:Arg67Gln	PROT:P37023	ACVRL1	R	67	Q	R67Q	Pathogenic/Likely pathogenic	1	2	5	308
MUT:ACVRL1:Arg67Gly	PROT:P37023	ACVRL1	R	67	G	R67G	Pathogenic/Likely pathogenic	1	1	5	308
MUT:ACVRL1:Arg67Pro	PROT:P37023	ACVRL1	R	67	P	R67P	Pathogenic	1	2	5	308
MUT:ACVRL1:Arg67Trp	PROT:P37023	ACVRL1	R	67	W	R67W	Pathogenic/Likely pathogenic	1	3	5	308
MUT:ACVRL1:Asn335Ile	PROT:P37023	ACVRL1	N	335	I	N335I	Likely pathogenic	1	1	5	40
MUT:ACVRL1:Asn96Asp	PROT:P37023	ACVRL1	N	96	D	N96D	Pathogenic/Likely pathogenic	1	1	5	279
MUT:ACVRL1:Asn96His	PROT:P37023	ACVRL1	N	96	H	N96H	Pathogenic	1	1	5	279
MUT:ACVRL1:Asn96Ser	PROT:P37023	ACVRL1	N	96	S	N96S	Pathogenic/Likely pathogenic	1	1	5	279
MUT:ACVRL1:Asn98Ser	PROT:P37023	ACVRL1	N	98	S	N98S	Likely pathogenic	1	2	5	277
MUT:ACVRL1:Asp176Tyr	PROT:P37023	ACVRL1	D	176	Y	D176Y	Likely pathogenic	1	1	5	199
MUT:ACVRL1:Asp179Ala	PROT:P37023	ACVRL1	D	179	A	D179A	Likely benign	0	2	5	196
MUT:ACVRL1:Asp263Asn	PROT:P37023	ACVRL1	D	263	N	D263N	Pathogenic	1	1	5	112
MUT:ACVRL1:Asp263Gly	PROT:P37023	ACVRL1	D	263	G	D263G	Pathogenic	1	1	5	112
MUT:ACVRL1:Asp263Val	PROT:P37023	ACVRL1	D	263	V	D263V	Likely pathogenic	1	1	5	112
MUT:ACVRL1:Asp330Glu	PROT:P37023	ACVRL1	D	330	E	D330E	Pathogenic	1	1	5	45
MUT:ACVRL1:Asp330His	PROT:P37023	ACVRL1	D	330	H	D330H	Likely pathogenic	1	1	5	45
MUT:ACVRL1:Asp330Tyr	PROT:P37023	ACVRL1	D	330	Y	D330Y	Pathogenic	1	1	5	45
MUT:ACVRL1:Asp348Glu	PROT:P37023	ACVRL1	D	348	E	D348E	Pathogenic	1	1	5	27
MUT:ACVRL1:Asp348His	PROT:P37023	ACVRL1	D	348	H	D348H	Pathogenic	1	1	5	27
MUT:ACVRL1:Asp348Tyr	PROT:P37023	ACVRL1	D	348	Y	D348Y	Pathogenic	1	1	5	27
MUT:ACVRL1:Asp397Asn	PROT:P37023	ACVRL1	D	397	N	D397N	Likely pathogenic	1	1	5	15
MUT:ACVRL1:Asp397Val	PROT:P37023	ACVRL1	D	397	V	D397V	Likely pathogenic	1	1	5	15
MUT:ACVRL1:Asp427Val	PROT:P37023	ACVRL1	D	427	V	D427V	Pathogenic	1	1	5	6
MUT:ACVRL1:Asp437Gly	PROT:P37023	ACVRL1	D	437	G	D437G	Pathogenic	1	1	5	2
MUT:ACVRL1:Cys207Gly	PROT:P37023	ACVRL1	C	207	G	C207G	Pathogenic	1	1	5	168
MUT:ACVRL1:Cys344Arg	PROT:P37023	ACVRL1	C	344	R	C344R	Pathogenic/Likely pathogenic	1	2	5	31
MUT:ACVRL1:Cys344Phe	PROT:P37023	ACVRL1	C	344	F	C344F	Pathogenic	1	1	5	31
MUT:ACVRL1:Cys344Tyr	PROT:P37023	ACVRL1	C	344	Y	C344Y	Pathogenic	1	2	5	31
MUT:ACVRL1:Cys345Phe	PROT:P37023	ACVRL1	C	345	F	C345F	Pathogenic	1	1	5	30
MUT:ACVRL1:Cys34Arg	PROT:P37023	ACVRL1	C	34	R	C34R	Pathogenic	1	1	5	341
MUT:ACVRL1:Cys34Ser	PROT:P37023	ACVRL1	C	34	S	C34S	Pathogenic	1	1	5	341
MUT:ACVRL1:Cys34Tyr	PROT:P37023	ACVRL1	C	34	Y	C34Y	Pathogenic	1	1	5	341
MUT:ACVRL1:Cys36Arg	PROT:P37023	ACVRL1	C	36	R	C36R	Pathogenic	1	1	5	339
MUT:ACVRL1:Cys41Arg	PROT:P37023	ACVRL1	C	41	R	C41R	Pathogenic	1	1	5	334
MUT:ACVRL1:Cys41Gly	PROT:P37023	ACVRL1	C	41	G	C41G	Pathogenic	1	1	5	334
MUT:ACVRL1:Cys41Ser	PROT:P37023	ACVRL1	C	41	S	C41S	Likely pathogenic	1	1	5	334
MUT:ACVRL1:Cys41Tyr	PROT:P37023	ACVRL1	C	41	Y	C41Y	Likely pathogenic	1	1	5	334
MUT:ACVRL1:Cys443Gly	PROT:P37023	ACVRL1	C	443	G	C443G	Pathogenic	1	1	5	3
MUT:ACVRL1:Cys46Ser	PROT:P37023	ACVRL1	C	46	S	C46S	Likely pathogenic	1	1	5	329
MUT:ACVRL1:Cys471Arg	PROT:P37023	ACVRL1	C	471	R	C471R	Pathogenic	1	1	5	31
MUT:ACVRL1:Cys471Gly	PROT:P37023	ACVRL1	C	471	G	C471G	Pathogenic	1	1	5	31
MUT:ACVRL1:Cys51Gly	PROT:P37023	ACVRL1	C	51	G	C51G	Likely pathogenic	1	1	5	324
MUT:ACVRL1:Cys51Phe	PROT:P37023	ACVRL1	C	51	F	C51F	Likely pathogenic	1	1	5	324
MUT:ACVRL1:Cys51Ser	PROT:P37023	ACVRL1	C	51	S	C51S	Likely pathogenic	1	1	5	324
MUT:ACVRL1:Cys51Trp	PROT:P37023	ACVRL1	C	51	W	C51W	Likely pathogenic	1	1	5	324
MUT:ACVRL1:Cys51Tyr	PROT:P37023	ACVRL1	C	51	Y	C51Y	Pathogenic	1	1	5	324
MUT:ACVRL1:Cys69Arg	PROT:P37023	ACVRL1	C	69	R	C69R	Pathogenic	1	1	5	306
MUT:ACVRL1:Cys69Gly	PROT:P37023	ACVRL1	C	69	G	C69G	Likely pathogenic	1	1	5	306
MUT:ACVRL1:Cys69Phe	PROT:P37023	ACVRL1	C	69	F	C69F	Pathogenic/Likely pathogenic	1	1	5	306
MUT:ACVRL1:Cys69Tyr	PROT:P37023	ACVRL1	C	69	Y	C69Y	Pathogenic	1	1	5	306
MUT:ACVRL1:Cys77Arg	PROT:P37023	ACVRL1	C	77	R	C77R	Likely pathogenic	1	1	5	298
MUT:ACVRL1:Cys77Trp	PROT:P37023	ACVRL1	C	77	W	C77W	Pathogenic	1	1	5	298
MUT:ACVRL1:Cys77Tyr	PROT:P37023	ACVRL1	C	77	Y	C77Y	Pathogenic	1	1	5	298
MUT:ACVRL1:Cys89Arg	PROT:P37023	ACVRL1	C	89	R	C89R	Pathogenic/Likely pathogenic	1	1	5	286
MUT:ACVRL1:Cys89Gly	PROT:P37023	ACVRL1	C	89	G	C89G	Likely pathogenic	1	1	5	286
MUT:ACVRL1:Cys89Phe	PROT:P37023	ACVRL1	C	89	F	C89F	Likely pathogenic	1	2	5	286
MUT:ACVRL1:Cys89Ser	PROT:P37023	ACVRL1	C	89	S	C89S	Pathogenic	1	1	5	286
MUT:ACVRL1:Cys89Trp	PROT:P37023	ACVRL1	C	89	W	C89W	Likely pathogenic	1	1	5	286
MUT:ACVRL1:Cys90Phe	PROT:P37023	ACVRL1	C	90	F	C90F	Pathogenic	1	1	5	285
MUT:ACVRL1:Cys90Trp	PROT:P37023	ACVRL1	C	90	W	C90W	Pathogenic	1	1	5	285
MUT:ACVRL1:Cys90Tyr	PROT:P37023	ACVRL1	C	90	Y	C90Y	Pathogenic/Likely pathogenic	1	1	5	285
MUT:ACVRL1:Gln201Arg	PROT:P37023	ACVRL1	Q	201	R	Q201R	Pathogenic	1	1	5	174
MUT:ACVRL1:Gln201Pro	PROT:P37023	ACVRL1	Q	201	P	Q201P	Pathogenic	1	1	5	174
MUT:ACVRL1:Gln343Pro	PROT:P37023	ACVRL1	Q	343	P	Q343P	Pathogenic	1	1	5	32
MUT:ACVRL1:Glu224Lys	PROT:P37023	ACVRL1	E	224	K	E224K	Pathogenic	1	1	5	151
MUT:ACVRL1:Glu236Lys	PROT:P37023	ACVRL1	E	236	K	E236K	Pathogenic	1	1	5	139
MUT:ACVRL1:Glu379Gly	PROT:P37023	ACVRL1	E	379	G	E379G	Likely pathogenic	1	1	5	4
MUT:ACVRL1:Glu379Lys	PROT:P37023	ACVRL1	E	379	K	E379K	Pathogenic/Likely pathogenic	1	2	5	4
MUT:ACVRL1:Glu379Val	PROT:P37023	ACVRL1	E	379	V	E379V	Likely pathogenic	1	1	5	4
MUT:ACVRL1:Glu407Asp	PROT:P37023	ACVRL1	E	407	D	E407D	Pathogenic	1	1	5	5
MUT:ACVRL1:Glu407Gln	PROT:P37023	ACVRL1	E	407	Q	E407Q	Likely pathogenic	1	1	5	5
MUT:ACVRL1:Glu407Gly	PROT:P37023	ACVRL1	E	407	G	E407G	Pathogenic	1	1	5	5
MUT:ACVRL1:Glu407Lys	PROT:P37023	ACVRL1	E	407	K	E407K	Pathogenic/Likely pathogenic	1	1	5	5
MUT:ACVRL1:Gly211Asp	PROT:P37023	ACVRL1	G	211	D	G211D	Pathogenic/Likely pathogenic	1	2	5	164
MUT:ACVRL1:Gly211Cys	PROT:P37023	ACVRL1	G	211	C	G211C	Pathogenic	1	1	5	164
MUT:ACVRL1:Gly211Ser	PROT:P37023	ACVRL1	G	211	S	G211S	Pathogenic	1	1	5	164
MUT:ACVRL1:Gly211Val	PROT:P37023	ACVRL1	G	211	V	G211V	Likely pathogenic	1	1	5	164
MUT:ACVRL1:Gly219Arg	PROT:P37023	ACVRL1	G	219	R	G219R	Pathogenic	1	1	5	156
MUT:ACVRL1:Gly258Ser	PROT:P37023	ACVRL1	G	258	S	G258S	Pathogenic/Likely pathogenic	1	2	5	117
MUT:ACVRL1:Gly309Arg	PROT:P37023	ACVRL1	G	309	R	G309R	Pathogenic	1	1	5	66
MUT:ACVRL1:Gly309Asp	PROT:P37023	ACVRL1	G	309	D	G309D	Pathogenic	1	1	5	66
MUT:ACVRL1:Gly309Ser	PROT:P37023	ACVRL1	G	309	S	G309S	Pathogenic/Likely pathogenic	1	1	5	66
MUT:ACVRL1:Gly319Arg	PROT:P37023	ACVRL1	G	319	R	G319R	Pathogenic	1	2	5	56
MUT:ACVRL1:Gly350Arg	PROT:P37023	ACVRL1	G	350	R	G350R	Pathogenic	1	1	5	25
MUT:ACVRL1:Gly350Ser	PROT:P37023	ACVRL1	G	350	S	G350S	Likely pathogenic	1	1	5	25
MUT:ACVRL1:Gly402Ser	PROT:P37023	ACVRL1	G	402	S	G402S	Pathogenic	1	2	5	10
MUT:ACVRL1:Gly48Arg	PROT:P37023	ACVRL1	G	48	R	G48R	Pathogenic	1	1	5	327
MUT:ACVRL1:Gly48Glu	PROT:P37023	ACVRL1	G	48	E	G48E	Pathogenic/Likely pathogenic	1	1	5	327
MUT:ACVRL1:Gly48Val	PROT:P37023	ACVRL1	G	48	V	G48V	Pathogenic	1	1	5	327
MUT:ACVRL1:Gly79Arg	PROT:P37023	ACVRL1	G	79	R	G79R	Likely pathogenic	1	1	5	296
MUT:ACVRL1:His312Gln	PROT:P37023	ACVRL1	H	312	Q	H312Q	Pathogenic	1	1	5	63
MUT:ACVRL1:His312Pro	PROT:P37023	ACVRL1	H	312	P	H312P	Likely pathogenic	1	1	5	63
MUT:ACVRL1:His314Asn	PROT:P37023	ACVRL1	H	314	N	H314N	Likely pathogenic	1	1	5	61
MUT:ACVRL1:His314Tyr	PROT:P37023	ACVRL1	H	314	Y	H314Y	Pathogenic	1	1	5	61
MUT:ACVRL1:His328Arg	PROT:P37023	ACVRL1	H	328	R	H328R	Likely pathogenic	1	1	5	47
MUT:ACVRL1:His328Pro	PROT:P37023	ACVRL1	H	328	P	H328P	Pathogenic	1	1	5	47
MUT:ACVRL1:His328Tyr	PROT:P37023	ACVRL1	H	328	Y	H328Y	Likely pathogenic	1	1	5	47
MUT:ACVRL1:Ile230Phe	PROT:P37023	ACVRL1	I	230	F	I230F	Likely pathogenic	1	1	5	145
MUT:ACVRL1:Ile385Leu	PROT:P37023	ACVRL1	I	385	L	I385L	Likely benign	0	1	5	10
MUT:ACVRL1:Ile398Asn	PROT:P37023	ACVRL1	I	398	N	I398N	Pathogenic	1	1	5	14
MUT:ACVRL1:Leu162Phe	PROT:P37023	ACVRL1	L	162	F	L162F	Likely benign	0	1	5	213
MUT:ACVRL1:Leu220Phe	PROT:P37023	ACVRL1	L	220	F	L220F	Likely benign	0	1	5	155
MUT:ACVRL1:Leu273Pro	PROT:P37023	ACVRL1	L	273	P	L273P	Pathogenic/Likely pathogenic	1	3	5	102
MUT:ACVRL1:Leu285Phe	PROT:P37023	ACVRL1	L	285	F	L285F	Pathogenic/Likely pathogenic	1	2	5	90
MUT:ACVRL1:Leu285Pro	PROT:P37023	ACVRL1	L	285	P	L285P	Likely pathogenic	1	1	5	90
MUT:ACVRL1:Leu289Pro	PROT:P37023	ACVRL1	L	289	P	L289P	Pathogenic	1	1	5	86
MUT:ACVRL1:Leu294Arg	PROT:P37023	ACVRL1	L	294	R	L294R	Pathogenic	1	1	5	81
MUT:ACVRL1:Leu313Arg	PROT:P37023	ACVRL1	L	313	R	L313R	Pathogenic	1	1	5	62
MUT:ACVRL1:Leu313Val	PROT:P37023	ACVRL1	L	313	V	L313V	Pathogenic	1	1	5	62
MUT:ACVRL1:Leu337Arg	PROT:P37023	ACVRL1	L	337	R	L337R	Likely pathogenic	1	1	5	38
MUT:ACVRL1:Leu342Pro	PROT:P37023	ACVRL1	L	342	P	L342P	Pathogenic	1	1	5	33
MUT:ACVRL1:Leu349Pro	PROT:P37023	ACVRL1	L	349	P	L349P	Pathogenic/Likely pathogenic	1	1	5	26
MUT:ACVRL1:Leu381Pro	PROT:P37023	ACVRL1	L	381	P	L381P	Likely pathogenic	1	2	5	6
MUT:ACVRL1:Leu480Ile	PROT:P37023	ACVRL1	L	480	I	L480I	Likely pathogenic	1	1	5	40
MUT:ACVRL1:Leu480Phe	PROT:P37023	ACVRL1	L	480	F	L480F	Pathogenic/Likely pathogenic	1	1	5	40
MUT:ACVRL1:Lys229Arg	PROT:P37023	ACVRL1	K	229	R	K229R	Likely pathogenic	1	1	5	146
MUT:ACVRL1:Lys229Asn	PROT:P37023	ACVRL1	K	229	N	K229N	Likely pathogenic	1	1	5	146
MUT:ACVRL1:Lys229Glu	PROT:P37023	ACVRL1	K	229	E	K229E	Pathogenic	1	1	5	146
MUT:ACVRL1:Lys229Met	PROT:P37023	ACVRL1	K	229	M	K229M	Pathogenic	1	1	5	146
MUT:ACVRL1:Lys323Glu	PROT:P37023	ACVRL1	K	323	E	K323E	Pathogenic/Likely pathogenic	1	1	5	52
MUT:ACVRL1:Lys323Thr	PROT:P37023	ACVRL1	K	323	T	K323T	Likely pathogenic	1	1	5	52
MUT:ACVRL1:Lys332Glu	PROT:P37023	ACVRL1	K	332	E	K332E	Likely pathogenic	1	1	5	43
MUT:ACVRL1:Lys487Gln	PROT:P37023	ACVRL1	K	487	Q	K487Q	Likely pathogenic	1	1	5	47
MUT:ACVRL1:Lys487Thr	PROT:P37023	ACVRL1	K	487	T	K487T	Likely pathogenic	1	2	5	47
MUT:ACVRL1:Met376Arg	PROT:P37023	ACVRL1	M	376	R	M376R	Pathogenic	1	1	5	1
MUT:ACVRL1:Met376Lys	PROT:P37023	ACVRL1	M	376	K	M376K	Pathogenic	1	1	5	1
MUT:ACVRL1:Met376Val	PROT:P37023	ACVRL1	M	376	V	M376V	Pathogenic/Likely pathogenic	1	1	5	1
MUT:ACVRL1:Met438Thr	PROT:P37023	ACVRL1	M	438	T	M438T	Pathogenic/Likely pathogenic	1	2	5	1
MUT:ACVRL1:Phe288Leu	PROT:P37023	ACVRL1	F	288	L	F288L	Likely pathogenic	1	1	5	87
MUT:ACVRL1:Phe288Ser	PROT:P37023	ACVRL1	F	288	S	F288S	Likely pathogenic	1	1	5	87
MUT:ACVRL1:Phe331Ser	PROT:P37023	ACVRL1	F	331	S	F331S	Pathogenic	1	1	5	44
MUT:ACVRL1:Phe425Leu	PROT:P37023	ACVRL1	F	425	L	F425L	Pathogenic/Likely pathogenic	1	1	5	4
MUT:ACVRL1:Pro26Leu	PROT:P37023	ACVRL1	P	26	L	P26L	Benign/Likely benign	0	1	5	349
MUT:ACVRL1:Pro30Ser	PROT:P37023	ACVRL1	P	30	S	P30S	Likely benign	0	2	5	345
MUT:ACVRL1:Pro378Arg	PROT:P37023	ACVRL1	P	378	R	P378R	Likely pathogenic	1	1	5	3
MUT:ACVRL1:Pro378His	PROT:P37023	ACVRL1	P	378	H	P378H	Pathogenic	1	1	5	3
MUT:ACVRL1:Pro378Leu	PROT:P37023	ACVRL1	P	378	L	P378L	Pathogenic/Likely pathogenic	1	1	5	3
MUT:ACVRL1:Pro378Ser	PROT:P37023	ACVRL1	P	378	S	P378S	Pathogenic/Likely pathogenic	1	1	5	3
MUT:ACVRL1:Pro424Ala	PROT:P37023	ACVRL1	P	424	A	P424A	Likely pathogenic	1	1	5	3
MUT:ACVRL1:Pro424Arg	PROT:P37023	ACVRL1	P	424	R	P424R	Pathogenic	1	1	5	3
MUT:ACVRL1:Pro424Ser	PROT:P37023	ACVRL1	P	424	S	P424S	Pathogenic/Likely pathogenic	1	1	5	3
MUT:ACVRL1:Pro424Thr	PROT:P37023	ACVRL1	P	424	T	P424T	Likely pathogenic	1	2	5	3
MUT:ACVRL1:Pro433His	PROT:P37023	ACVRL1	P	433	H	P433H	Likely pathogenic	1	1	5	6
MUT:ACVRL1:Pro433Ser	PROT:P37023	ACVRL1	P	433	S	P433S	Pathogenic	1	1	5	6
MUT:ACVRL1:Pro449Leu	PROT:P37023	ACVRL1	P	449	L	P449L	Pathogenic/Likely pathogenic	1	2	5	9
MUT:ACVRL1:Pro449Ser	PROT:P37023	ACVRL1	P	449	S	P449S	Pathogenic	1	1	5	9
MUT:ACVRL1:Pro452Leu	PROT:P37023	ACVRL1	P	452	L	P452L	Pathogenic	1	1	5	12
MUT:ACVRL1:Pro476Arg	PROT:P37023	ACVRL1	P	476	R	P476R	Likely pathogenic	1	1	5	36
MUT:ACVRL1:Pro476Leu	PROT:P37023	ACVRL1	P	476	L	P476L	Pathogenic/Likely pathogenic	1	1	5	36
MUT:ACVRL1:Ser110Leu	PROT:P37023	ACVRL1	S	110	L	S110L	Benign/Likely benign	0	1	5	265
MUT:ACVRL1:Ser186Ile	PROT:P37023	ACVRL1	S	186	I	S186I	Likely pathogenic	1	1	5	189
MUT:ACVRL1:Ser233Trp	PROT:P37023	ACVRL1	S	233	W	S233W	Pathogenic	1	1	5	142
MUT:ACVRL1:Ser305Phe	PROT:P37023	ACVRL1	S	305	F	S305F	Pathogenic/Likely pathogenic	1	2	5	70
MUT:ACVRL1:Ser333Arg	PROT:P37023	ACVRL1	S	333	R	S333R	Likely pathogenic	1	1	5	42
MUT:ACVRL1:Ser333Cys	PROT:P37023	ACVRL1	S	333	C	S333C	Likely pathogenic	1	1	5	42
MUT:ACVRL1:Ser333Ile	PROT:P37023	ACVRL1	S	333	I	S333I	Pathogenic	1	2	5	42
MUT:ACVRL1:Thr197Arg	PROT:P37023	ACVRL1	T	197	R	T197R	Likely pathogenic	1	1	5	178
MUT:ACVRL1:Thr197Ile	PROT:P37023	ACVRL1	T	197	I	T197I	Pathogenic/Likely pathogenic	1	1	5	178
MUT:ACVRL1:Thr271Lys	PROT:P37023	ACVRL1	T	271	K	T271K	Likely pathogenic	1	1	5	104
MUT:ACVRL1:Thr277Arg	PROT:P37023	ACVRL1	T	277	R	T277R	Pathogenic/Likely pathogenic	1	1	5	98
MUT:ACVRL1:Thr277Lys	PROT:P37023	ACVRL1	T	277	K	T277K	Pathogenic/Likely pathogenic	1	2	5	98
MUT:ACVRL1:Thr277Met	PROT:P37023	ACVRL1	T	277	M	T277M	Likely pathogenic	1	1	5	98
MUT:ACVRL1:Thr372Ile	PROT:P37023	ACVRL1	T	372	I	T372I	Pathogenic/Likely pathogenic	1	1	5	3
MUT:ACVRL1:Thr450Ala	PROT:P37023	ACVRL1	T	450	A	T450A	Likely benign	0	2	5	10
MUT:ACVRL1:Trp217Gly	PROT:P37023	ACVRL1	W	217	G	W217G	Pathogenic/Likely pathogenic	1	1	5	158
MUT:ACVRL1:Trp399Arg	PROT:P37023	ACVRL1	W	399	R	W399R	Likely pathogenic	1	2	5	13
MUT:ACVRL1:Trp399Gly	PROT:P37023	ACVRL1	W	399	G	W399G	Pathogenic	1	1	5	13
MUT:ACVRL1:Trp399Leu	PROT:P37023	ACVRL1	W	399	L	W399L	Pathogenic	1	1	5	13
MUT:ACVRL1:Trp399Ser	PROT:P37023	ACVRL1	W	399	S	W399S	Pathogenic/Likely pathogenic	1	2	5	13
MUT:ACVRL1:Trp406Arg	PROT:P37023	ACVRL1	W	406	R	W406R	Likely pathogenic	1	1	5	6
MUT:ACVRL1:Trp406Cys	PROT:P37023	ACVRL1	W	406	C	W406C	Pathogenic/Likely pathogenic	1	1	5	6
MUT:ACVRL1:Trp50Arg	PROT:P37023	ACVRL1	W	50	R	W50R	Likely pathogenic	1	1	5	325
MUT:ACVRL1:Trp50Cys	PROT:P37023	ACVRL1	W	50	C	W50C	Pathogenic	1	1	5	325
MUT:ACVRL1:Trp50Gly	PROT:P37023	ACVRL1	W	50	G	W50G	Likely pathogenic	1	1	5	325
MUT:ACVRL1:Tyr375Phe	PROT:P37023	ACVRL1	Y	375	F	Y375F	Likely pathogenic	1	1	5	0
MUT:ACVRL1:Tyr421Asn	PROT:P37023	ACVRL1	Y	421	N	Y421N	Likely pathogenic	1	1	5	0
MUT:ACVRL1:Tyr421Asp	PROT:P37023	ACVRL1	Y	421	D	Y421D	Pathogenic/Likely pathogenic	1	1	5	0
MUT:ACVRL1:Tyr426Cys	PROT:P37023	ACVRL1	Y	426	C	Y426C	Pathogenic/Likely pathogenic	1	1	5	5
MUT:ACVRL1:Val198Glu	PROT:P37023	ACVRL1	V	198	E	V198E	Pathogenic	1	1	5	177
MUT:ACVRL1:Val216Gly	PROT:P37023	ACVRL1	V	216	G	V216G	Likely pathogenic	1	1	5	159
MUT:ACVRL1:Val226Glu	PROT:P37023	ACVRL1	V	226	E	V226E	Pathogenic/Likely pathogenic	1	1	5	149
MUT:ACVRL1:Val336Glu	PROT:P37023	ACVRL1	V	336	E	V336E	Likely pathogenic	1	1	5	39
MUT:ACVRL1:Val380Gly	PROT:P37023	ACVRL1	V	380	G	V380G	Pathogenic	1	1	5	5
MUT:ACVRL1:Val441Met	PROT:P37023	ACVRL1	V	441	M	V441M	Pathogenic/Likely pathogenic	1	1	5	1
MUT:ACVRL1:Val442Ala	PROT:P37023	ACVRL1	V	442	A	V442A	Pathogenic/Likely pathogenic	1	1	5	2
MUT:ADAM22:Asn718Ser	PROT:Q9P0K1	ADAM22	N	718	S	N718S	Likely benign	0	1	4	94
MUT:ADAM22:Asp645Val	PROT:Q9P0K1	ADAM22	D	645	V	D645V	Likely benign	0	1	4	89
MUT:ADAM22:Cys401Tyr	PROT:Q9P0K1	ADAM22	C	401	Y	C401Y	Pathogenic	1	1	4	155
MUT:ADAM22:Glu128Lys	PROT:Q9P0K1	ADAM22	E	128	K	E128K	Benign	0	1	4	428
MUT:ADAM22:Glu194Ala	PROT:Q9P0K1	ADAM22	E	194	A	E194A	Benign	0	1	4	362
MUT:ADAM22:Gly630Glu	PROT:Q9P0K1	ADAM22	G	630	E	G630E	Likely benign	0	1	4	74
MUT:ADAM22:His119Tyr	PROT:Q9P0K1	ADAM22	H	119	Y	H119Y	Benign	0	1	4	437
MUT:ADAM22:Ile512Val	PROT:Q9P0K1	ADAM22	I	512	V	I512V	Likely benign	0	1	4	44
MUT:ADAM22:Leu55Phe	PROT:Q9P0K1	ADAM22	L	55	F	L55F	Benign	0	1	4	501
MUT:ADAM22:Pro220Arg	PROT:Q9P0K1	ADAM22	P	220	R	P220R	Benign/Likely benign	0	1	4	336
MUT:ADAM22:Pro81Arg	PROT:Q9P0K1	ADAM22	P	81	R	P81R	Benign	0	1	4	475
MUT:ADAM22:Ser963Phe	PROT:Q9P0K1	ADAM22	S	963	F	S963F	Pathogenic	1	1	4	129
MUT:ADAM22:Val207Ile	PROT:Q9P0K1	ADAM22	V	207	I	V207I	Benign	0	1	4	349
MUT:ADAM22:Val45Met	PROT:Q9P0K1	ADAM22	V	45	M	V45M	Benign/Likely benign	0	1	4	511
MUT:ADAM22:Val5Gly	PROT:Q9P0K1	ADAM22	V	5	G	V5G	Benign	0	1	4	551
MUT:ADAM22:Val952Met	PROT:Q9P0K1	ADAM22	V	952	M	V952M	Likely benign	0	1	4	118
MUT:ADAM8:Arg768Gln	PROT:P78325	ADAM8	R	768	Q	R768Q	Likely benign	0	1	2	2
MUT:ADAMTS10:Ala862Ser	PROT:Q9H324	ADAMTS10	A	862	S	A862S	Benign	0	1	1	788
MUT:ADAMTS10:Arg119Gln	PROT:Q9H324	ADAMTS10	R	119	Q	R119Q	Benign	0	1	1	45
MUT:ADAMTS10:Arg456Gln	PROT:Q9H324	ADAMTS10	R	456	Q	R456Q	Likely benign	0	2	1	382
MUT:ADAMTS10:Arg488Ser	PROT:Q9H324	ADAMTS10	R	488	S	R488S	Likely pathogenic	1	1	1	414
MUT:ADAMTS10:Arg62Gln	PROT:Q9H324	ADAMTS10	R	62	Q	R62Q	Benign	0	7	1	12
MUT:ADAMTS10:Arg907His	PROT:Q9H324	ADAMTS10	R	907	H	R907H	Likely pathogenic	1	1	1	833
MUT:ADAMTS10:Arg996Cys	PROT:Q9H324	ADAMTS10	R	996	C	R996C	Likely pathogenic	1	1	1	922
MUT:ADAMTS10:Asn407Asp	PROT:Q9H324	ADAMTS10	N	407	D	N407D	Likely pathogenic	1	1	1	333
MUT:ADAMTS10:Glu393Asp	PROT:Q9H324	ADAMTS10	E	393	D	E393D	Likely pathogenic	1	1	1	319
MUT:ADAMTS10:Glu73Lys	PROT:Q9H324	ADAMTS10	E	73	K	E73K	Benign/Likely benign	0	2	1	1
MUT:ADAMTS10:Gly1065Ser	PROT:Q9H324	ADAMTS10	G	1065	S	G1065S	Benign/Likely benign	0	1	1	991
MUT:ADAMTS10:Gly518Asp	PROT:Q9H324	ADAMTS10	G	518	D	G518D	Pathogenic	1	1	1	444
MUT:ADAMTS10:Gly700Cys	PROT:Q9H324	ADAMTS10	G	700	C	G700C	Pathogenic	1	1	1	626
MUT:ADAMTS10:Gly903Arg	PROT:Q9H324	ADAMTS10	G	903	R	G903R	Likely benign	0	1	1	829
MUT:ADAMTS10:His1101Gln	PROT:Q9H324	ADAMTS10	H	1101	Q	H1101Q	Benign	0	1	1	1027
MUT:ADAMTS10:Leu808Arg	PROT:Q9H324	ADAMTS10	L	808	R	L808R	Benign/Likely benign	0	1	1	734
MUT:ADAMTS10:Ser447Leu	PROT:Q9H324	ADAMTS10	S	447	L	S447L	Likely benign	0	1	1	373
MUT:ADAMTS10:Ser754Phe	PROT:Q9H324	ADAMTS10	S	754	F	S754F	Likely benign	0	2	1	680
MUT:ADAMTS10:Thr23Met	PROT:Q9H324	ADAMTS10	T	23	M	T23M	Likely benign	0	1	1	51
MUT:ADAMTS10:Val1028Gly	PROT:Q9H324	ADAMTS10	V	1028	G	V1028G	Likely pathogenic	1	1	1	954
MUT:ADAMTS2:Ala1005Val	PROT:O95450	ADAMTS2	A	1005	V	A1005V	Benign/Likely benign	0	2	1	481
MUT:ADAMTS2:Ala199Val	PROT:O95450	ADAMTS2	A	199	V	A199V	Benign/Likely benign	0	2	1	325
MUT:ADAMTS2:Ala250Val	PROT:O95450	ADAMTS2	A	250	V	A250V	Likely benign	0	1	1	274
MUT:ADAMTS2:Arg241His	PROT:O95450	ADAMTS2	R	241	H	R241H	Benign	0	1	1	283
MUT:ADAMTS2:Arg255Gln	PROT:O95450	ADAMTS2	R	255	Q	R255Q	Benign/Likely benign	0	3	1	269
MUT:ADAMTS2:Arg827Gln	PROT:O95450	ADAMTS2	R	827	Q	R827Q	Benign/Likely benign	0	2	1	303
MUT:ADAMTS2:Asp234Gly	PROT:O95450	ADAMTS2	D	234	G	D234G	Benign/Likely benign	0	2	1	290
MUT:ADAMTS2:Gly1169Val	PROT:O95450	ADAMTS2	G	1169	V	G1169V	Benign	0	1	1	645
MUT:ADAMTS2:Gly665Arg	PROT:O95450	ADAMTS2	G	665	R	G665R	Benign/Likely benign	0	2	1	141
MUT:ADAMTS2:Met1Arg	PROT:O95450	ADAMTS2	M	1	R	M1R	Likely pathogenic	1	1	1	523
MUT:ADAMTS2:Met1Val	PROT:O95450	ADAMTS2	M	1	V	M1V	Likely pathogenic	1	1	1	523
MUT:ADAMTS2:Met501Val	PROT:O95450	ADAMTS2	M	501	V	M501V	Likely benign	0	1	1	23
MUT:ADAMTS2:Pro1177Ser	PROT:O95450	ADAMTS2	P	1177	S	P1177S	Benign	0	1	1	653
MUT:ADAMTS2:Ser107Gly	PROT:O95450	ADAMTS2	S	107	G	S107G	Likely benign	0	1	1	417
MUT:ADAMTS2:Trp567Cys	PROT:O95450	ADAMTS2	W	567	C	W567C	Likely pathogenic	1	1	1	43
MUT:ADAMTS2:Val245Ile	PROT:O95450	ADAMTS2	V	245	I	V245I	Benign	0	1	1	279
MUT:ADAMTS2:Val74Met	PROT:O95450	ADAMTS2	V	74	M	V74M	Benign	0	2	1	450
MUT:ADAR:Ala870Thr	PROT:P55265	ADAR	A	870	T	A870T	Pathogenic/Likely pathogenic	1	1	77	25
MUT:ADAR:Arg100Gly	PROT:P55265	ADAR	R	100	G	R100G	Benign	0	2	77	12
MUT:ADAR:Asp1113His	PROT:P55265	ADAR	D	1113	H	D1113H	Pathogenic/Likely pathogenic	1	1	77	1
MUT:ADAR:Gln1049His	PROT:P55265	ADAR	Q	1049	H	Q1049H	Likely pathogenic	1	1	77	16
MUT:ADAR:Glu643Asp	PROT:P55265	ADAR	E	643	D	E643D	Likely benign	0	1	77	6
MUT:ADAR:Gly1007Arg	PROT:P55265	ADAR	G	1007	R	G1007R	Pathogenic/Likely pathogenic	1	3	77	4
MUT:ADAR:Gly258Arg	PROT:P55265	ADAR	G	258	R	G258R	Benign/Likely benign	0	3	77	44
MUT:ADAR:Ile335Phe	PROT:P55265	ADAR	I	335	F	I335F	Benign/Likely benign	0	2	77	9
MUT:ADAR:Ile872Thr	PROT:P55265	ADAR	I	872	T	I872T	Pathogenic/Likely pathogenic	1	1	77	23
MUT:ADAR:Leu1048Pro	PROT:P55265	ADAR	L	1048	P	L1048P	Likely pathogenic	1	1	77	15
MUT:ADAR:Leu923Pro	PROT:P55265	ADAR	L	923	P	L923P	Pathogenic	1	1	77	13
MUT:ADAR:Lys1122Gln	PROT:P55265	ADAR	K	1122	Q	K1122Q	Likely pathogenic	1	1	77	7
MUT:ADAR:Lys384Arg	PROT:P55265	ADAR	K	384	R	K384R	Benign	0	2	77	0
MUT:ADAR:Lys999Asn	PROT:P55265	ADAR	K	999	N	K999N	Pathogenic/Likely pathogenic	1	1	77	3
MUT:ADAR:Phe1165Ser	PROT:P55265	ADAR	F	1165	S	F1165S	Pathogenic	1	1	77	1
MUT:ADAR:Ser1072Ile	PROT:P55265	ADAR	S	1072	I	S1072I	Likely pathogenic	1	1	77	17
MUT:ADAR:Tyr1112Phe	PROT:P55265	ADAR	Y	1112	F	Y1112F	Pathogenic/Likely pathogenic	1	1	77	2
MUT:ADAR:Tyr587Cys	PROT:P55265	ADAR	Y	587	C	Y587C	Benign/Likely benign	0	1	77	1
MUT:ADCK2:Ala137Val	PROT:Q7Z695	ADCK2	A	137	V	A137V	Likely benign	0	1	2	134
MUT:ADCY10:Arg581Gln	PROT:Q96PN6	ADCY10	R	581	Q	R581Q	Likely benign	0	1	3	228
MUT:ADCY10:Arg968Gln	PROT:Q96PN6	ADCY10	R	968	Q	R968Q	Likely benign	0	1	3	158
MUT:ADCY10:Asp965Glu	PROT:Q96PN6	ADCY10	D	965	E	D965E	Likely benign	0	1	3	155
MUT:ADCY10:Glu1407Gly	PROT:Q96PN6	ADCY10	E	1407	G	E1407G	Likely benign	0	1	3	597
MUT:ADCY10:Gly1079Arg	PROT:Q96PN6	ADCY10	G	1079	R	G1079R	Likely benign	0	1	3	269
MUT:ADCY10:Ile709Val	PROT:Q96PN6	ADCY10	I	709	V	I709V	Benign/Likely benign	0	8	3	100
MUT:ADCY10:Thr234Met	PROT:Q96PN6	ADCY10	T	234	M	T234M	Benign	0	1	3	84
MUT:ADD1:Met1Val	PROT:P35611	ADD1	M	1	V	M1V	Likely pathogenic	1	1	27	20
MUT:ADGRA3:Ala755Val	PROT:Q8IWK6	ADGRA3	A	755	V	A755V	Benign	0	9	4	120
MUT:ADGRA3:Arg1221Gln	PROT:Q8IWK6	ADGRA3	R	1221	Q	R1221Q	Benign	0	2	4	95
MUT:ADGRA3:Arg200His	PROT:Q8IWK6	ADGRA3	R	200	H	R200H	Benign/Likely benign	0	1	4	8
MUT:ADGRA3:Arg568His	PROT:Q8IWK6	ADGRA3	R	568	H	R568H	Likely benign	0	1	4	64
MUT:ADGRA3:Gly528Ser	PROT:Q8IWK6	ADGRA3	G	528	S	G528S	Likely benign	0	3	4	104
MUT:ADGRA3:Ile768Val	PROT:Q8IWK6	ADGRA3	I	768	V	I768V	Benign/Likely benign	0	1	4	133
MUT:ADGRA3:Leu160Ile	PROT:Q8IWK6	ADGRA3	L	160	I	L160I	Benign	0	1	4	48
MUT:ADGRA3:Leu21Val	PROT:Q8IWK6	ADGRA3	L	21	V	L21V	Benign	0	1	4	187
MUT:ADGRA3:Lys852Asn	PROT:Q8IWK6	ADGRA3	K	852	N	K852N	Benign	0	1	4	217
MUT:ADGRA3:Pro350Leu	PROT:Q8IWK6	ADGRA3	P	350	L	P350L	Likely benign	0	1	4	142
MUT:ADGRA3:Thr1082Met	PROT:Q8IWK6	ADGRA3	T	1082	M	T1082M	Benign	0	1	4	234
MUT:ADGRA3:Thr1196Arg	PROT:Q8IWK6	ADGRA3	T	1196	R	T1196R	Benign	0	1	4	120
MUT:ADGRA3:Val1043Met	PROT:Q8IWK6	ADGRA3	V	1043	M	V1043M	Benign	0	1	4	273
MUT:ADGRA3:Val1166Gly	PROT:Q8IWK6	ADGRA3	V	1166	G	V1166G	Benign	0	1	4	150
MUT:ADGRE5:Ile666Met	PROT:P48960	ADGRE5	I	666	M	I666M	Likely benign	0	9	4	152
MUT:ADGRG2:Arg266Gln	PROT:Q8IZP9	ADGRG2	R	266	Q	R266Q	Likely benign	0	1	2	739
MUT:ADGRG2:Asn291Ser	PROT:Q8IZP9	ADGRG2	N	291	S	N291S	Likely benign	0	1	2	714
MUT:ADGRG2:Gly955Arg	PROT:Q8IZP9	ADGRG2	G	955	R	G955R	Likely benign	0	1	2	50
MUT:ADGRG2:His290Gln	PROT:Q8IZP9	ADGRG2	H	290	Q	H290Q	Benign	0	1	2	715
MUT:ADGRG2:Ile191Val	PROT:Q8IZP9	ADGRG2	I	191	V	I191V	Likely benign	0	1	2	814
MUT:ADGRG2:Met690Thr	PROT:Q8IZP9	ADGRG2	M	690	T	M690T	Likely benign	0	1	2	315
MUT:ADGRG2:Pro293Leu	PROT:Q8IZP9	ADGRG2	P	293	L	P293L	Likely benign	0	1	2	712
MUT:ADGRG2:Val545Ile	PROT:Q8IZP9	ADGRG2	V	545	I	V545I	Likely benign	0	1	2	460
MUT:ADGRG2:Val611Ile	PROT:Q8IZP9	ADGRG2	V	611	I	V611I	Likely benign	0	1	2	394
MUT:ADGRG4:Cys1547Ser	PROT:Q8IZF6	ADGRG4	C	1547	S	C1547S	Likely benign	0	1	2	693
MUT:ADGRG4:Gly1867Glu	PROT:Q8IZF6	ADGRG4	G	1867	E	G1867E	Likely benign	0	1	2	1013
MUT:ADGRG4:Ser1233Pro	PROT:Q8IZF6	ADGRG4	S	1233	P	S1233P	Likely benign	0	1	2	379
MUT:ADGRG4:Ser253Tyr	PROT:Q8IZF6	ADGRG4	S	253	Y	S253Y	Likely benign	0	1	2	601
MUT:ADGRG4:Ser44Arg	PROT:Q8IZF6	ADGRG4	S	44	R	S44R	Likely benign	0	1	2	810
MUT:ADGRL1:Ala1317Val	PROT:O94910	ADGRL1	A	1317	V	A1317V	Likely benign	0	1	17	68
MUT:ADGRL1:Ala266Thr	PROT:O94910	ADGRL1	A	266	T	A266T	Likely benign	0	1	17	60
MUT:ADGRL1:Arg591His	PROT:O94910	ADGRL1	R	591	H	R591H	Likely benign	0	1	17	265
MUT:ADGRL1:Gln82Arg	PROT:O94910	ADGRL1	Q	82	R	Q82R	Likely pathogenic	1	1	17	244
MUT:ADGRL1:Gly271Glu	PROT:O94910	ADGRL1	G	271	E	G271E	Likely pathogenic	1	1	17	55
MUT:ADGRL1:Gly747Arg	PROT:O94910	ADGRL1	G	747	R	G747R	Likely benign	0	1	17	285
MUT:ADGRL1:Ile920Val	PROT:O94910	ADGRL1	I	920	V	I920V	Likely benign	0	1	17	112
MUT:ADGRL1:Met1147Thr	PROT:O94910	ADGRL1	M	1147	T	M1147T	Pathogenic	1	2	17	5
MUT:ADGRL1:Pro1393Leu	PROT:O94910	ADGRL1	P	1393	L	P1393L	Likely benign	0	1	17	6
MUT:ADGRL1:Pro1423Gln	PROT:O94910	ADGRL1	P	1423	Q	P1423Q	Likely benign	0	1	17	17
MUT:ADGRL1:Pro748Ala	PROT:O94910	ADGRL1	P	748	A	P748A	Likely benign	0	1	17	284
MUT:ADGRL1:Ser1159Phe	PROT:O94910	ADGRL1	S	1159	F	S1159F	Pathogenic	1	1	17	0
MUT:ADGRL1:Trp1000Arg	PROT:O94910	ADGRL1	W	1000	R	W1000R	Pathogenic	1	1	17	32
MUT:ADK:Ala318Glu	PROT:P55263	ADK	A	318	E	A318E	Pathogenic	1	1	9	62
MUT:ADK:Ala344Val	PROT:P55263	ADK	A	344	V	A344V	Pathogenic/Likely pathogenic	1	1	9	88
MUT:ADK:Asp235Ala	PROT:P55263	ADK	D	235	A	D235A	Pathogenic	1	1	9	21
MUT:ADK:Gly30Glu	PROT:P55263	ADK	G	30	E	G30E	Pathogenic	1	1	9	31
MUT:ADPRS:Ala10Gly	PROT:Q9NX46	ADPRS	A	10	G	A10G	Likely benign	0	1	6	54
MUT:ADPRS:Ala5Val	PROT:Q9NX46	ADPRS	A	5	V	A5V	Likely benign	0	1	6	59
MUT:ADPRS:Ala8Thr	PROT:Q9NX46	ADPRS	A	8	T	A8T	Likely benign	0	1	6	56
MUT:ADPRS:Ala8Val	PROT:Q9NX46	ADPRS	A	8	V	A8V	Likely benign	0	1	6	56
MUT:ADPRS:Arg240His	PROT:Q9NX46	ADPRS	R	240	H	R240H	Likely benign	0	1	6	68
MUT:ADPRS:Asp34Asn	PROT:Q9NX46	ADPRS	D	34	N	D34N	Pathogenic	1	1	6	30
MUT:ADPRS:Glu68Ala	PROT:Q9NX46	ADPRS	E	68	A	E68A	Likely benign	0	1	6	4
MUT:ADPRS:His182Arg	PROT:Q9NX46	ADPRS	H	182	R	H182R	Likely pathogenic	1	1	6	10
MUT:ADPRS:Leu162Pro	PROT:Q9NX46	ADPRS	L	162	P	L162P	Likely pathogenic	1	1	6	10
MUT:ADPRS:Leu230Ser	PROT:Q9NX46	ADPRS	L	230	S	L230S	Likely benign	0	1	6	58
MUT:ADPRS:Ser177Leu	PROT:Q9NX46	ADPRS	S	177	L	S177L	Likely pathogenic	1	1	6	5
MUT:ADPRS:Thr79Pro	PROT:Q9NX46	ADPRS	T	79	P	T79P	Pathogenic/Likely pathogenic	1	1	6	4
MUT:ADPRS:Val335Gly	PROT:Q9NX46	ADPRS	V	335	G	V335G	Pathogenic/Likely pathogenic	1	1	6	163
MUT:ADRA2A:Arg301Ser	PROT:P08913	ADRA2A	R	301	S	R301S	Likely benign	0	1	2	54
MUT:ADRA2A:Leu68Phe	PROT:P08913	ADRA2A	L	68	F	L68F	Pathogenic	1	1	2	179
MUT:ADRB1:Ala187Val	PROT:P08588	ADRB1	A	187	V	A187V	Pathogenic	1	1	5	73
MUT:ADRB1:Ser49Gly	PROT:P08588	ADRB1	S	49	G	S49G	Likely benign	0	2	5	211
MUT:AEBP1:Ala1031Thr	PROT:Q8IUX7	AEBP1	A	1031	T	A1031T	Benign/Likely benign	0	1	4	799
MUT:AEBP1:Ala776Val	PROT:Q8IUX7	AEBP1	A	776	V	A776V	Likely benign	0	1	4	544
MUT:AEBP1:Arg1028Gln	PROT:Q8IUX7	AEBP1	R	1028	Q	R1028Q	Likely benign	0	1	4	796
MUT:AEBP1:Ile444Leu	PROT:Q8IUX7	AEBP1	I	444	L	I444L	Benign/Likely benign	0	5	4	212
MUT:AEBP1:Lys1133Glu	PROT:Q8IUX7	AEBP1	K	1133	E	K1133E	Benign/Likely benign	0	1	4	901
MUT:AEBP1:Met996Thr	PROT:Q8IUX7	AEBP1	M	996	T	M996T	Benign	0	1	4	764
MUT:AEBP1:Pro273Thr	PROT:Q8IUX7	AEBP1	P	273	T	P273T	Benign/Likely benign	0	1	4	41
MUT:AEBP1:Val307Met	PROT:Q8IUX7	AEBP1	V	307	M	V307M	Likely benign	0	1	4	75
MUT:AFF3:Ala1139Thr	PROT:P51826	AFF3	A	1139	T	A1139T	Likely benign	0	1	18	18
MUT:AFF3:Ala233Ser	PROT:P51826	AFF3	A	233	S	A233S	Pathogenic	1	1	18	15
MUT:AFF3:Ala233Thr	PROT:P51826	AFF3	A	233	T	A233T	Pathogenic	1	1	18	15
MUT:AFF3:Ala233Val	PROT:P51826	AFF3	A	233	V	A233V	Pathogenic/Likely pathogenic	1	1	18	15
MUT:AFF3:Ala391Thr	PROT:P51826	AFF3	A	391	T	A391T	Likely benign	0	1	18	2
MUT:AFF3:Ala712Thr	PROT:P51826	AFF3	A	712	T	A712T	Likely benign	0	1	18	43
MUT:AFF3:Arg1186Gln	PROT:P51826	AFF3	R	1186	Q	R1186Q	Likely benign	0	1	18	65
MUT:AFF3:Arg28Trp	PROT:P51826	AFF3	R	28	W	R28W	Likely benign	0	1	18	220
MUT:AFF3:Asn905Ser	PROT:P51826	AFF3	N	905	S	N905S	Likely benign	0	1	18	16
MUT:AFF3:Gly420Ser	PROT:P51826	AFF3	G	420	S	G420S	Likely benign	0	1	18	27
MUT:AFF3:His452Asp	PROT:P51826	AFF3	H	452	D	H452D	Likely benign	0	1	18	59
MUT:AFF3:Met238Arg	PROT:P51826	AFF3	M	238	R	M238R	Likely pathogenic	1	1	18	10
MUT:AFF3:Pro231Arg	PROT:P51826	AFF3	P	231	R	P231R	Pathogenic	1	3	18	17
MUT:AFF3:Pro231Leu	PROT:P51826	AFF3	P	231	L	P231L	Pathogenic	1	1	18	17
MUT:AFF3:Pro231Ser	PROT:P51826	AFF3	P	231	S	P231S	Pathogenic	1	1	18	17
MUT:AFF3:Ser717Asn	PROT:P51826	AFF3	S	717	N	S717N	Likely benign	0	1	18	38
MUT:AFF3:Ser850Asn	PROT:P51826	AFF3	S	850	N	S850N	Likely benign	0	1	18	28
MUT:AFF3:Ser954Cys	PROT:P51826	AFF3	S	954	C	S954C	Benign	0	1	18	0
MUT:AFF3:Thr808Ala	PROT:P51826	AFF3	T	808	A	T808A	Likely pathogenic	1	1	18	53
MUT:AFF3:Val235Gly	PROT:P51826	AFF3	V	235	G	V235G	Pathogenic	1	1	18	13
MUT:AFG2A:Ala100Thr	PROT:Q8NB90	AFG2A	A	100	T	A100T	Pathogenic	1	1	39	10
MUT:AFG2A:Ala680Ser	PROT:Q8NB90	AFG2A	A	680	S	A680S	Pathogenic	1	1	39	1
MUT:AFG2A:Ala844Val	PROT:Q8NB90	AFG2A	A	844	V	A844V	Pathogenic/Likely pathogenic	1	1	39	24
MUT:AFG2A:Arg514Gln	PROT:Q8NB90	AFG2A	R	514	Q	R514Q	Likely pathogenic	1	1	39	3
MUT:AFG2A:Arg529Gln	PROT:Q8NB90	AFG2A	R	529	Q	R529Q	Pathogenic/Likely pathogenic	1	1	39	6
MUT:AFG2A:Arg539Met	PROT:Q8NB90	AFG2A	R	539	M	R539M	Benign/Likely benign	0	1	39	4
MUT:AFG2A:Arg774Leu	PROT:Q8NB90	AFG2A	R	774	L	R774L	Likely pathogenic	1	1	39	74
MUT:AFG2A:Arg84Gln	PROT:Q8NB90	AFG2A	R	84	Q	R84Q	Pathogenic	1	2	39	5
MUT:AFG2A:Arg84Pro	PROT:Q8NB90	AFG2A	R	84	P	R84P	Likely pathogenic	1	1	39	5
MUT:AFG2A:Asp628Ala	PROT:Q8NB90	AFG2A	D	628	A	D628A	Likely pathogenic	1	1	39	8
MUT:AFG2A:Asp628Gly	PROT:Q8NB90	AFG2A	D	628	G	D628G	Pathogenic/Likely pathogenic	1	1	39	8
MUT:AFG2A:Asp829Tyr	PROT:Q8NB90	AFG2A	D	829	Y	D829Y	Benign	0	1	39	39
MUT:AFG2A:Cys27Ser	PROT:Q8NB90	AFG2A	C	27	S	C27S	Benign	0	1	39	7
MUT:AFG2A:Glu640Ala	PROT:Q8NB90	AFG2A	E	640	A	E640A	Benign	0	1	39	2
MUT:AFG2A:Glu640Gln	PROT:Q8NB90	AFG2A	E	640	Q	E640Q	Benign	0	1	39	2
MUT:AFG2A:Gly185Glu	PROT:Q8NB90	AFG2A	G	185	E	G185E	Likely pathogenic	1	1	39	4
MUT:AFG2A:Ile256Thr	PROT:Q8NB90	AFG2A	I	256	T	I256T	Benign	0	2	39	2
MUT:AFG2A:Ile256Val	PROT:Q8NB90	AFG2A	I	256	V	I256V	Likely benign	0	2	39	2
MUT:AFG2A:Ile355Thr	PROT:Q8NB90	AFG2A	I	355	T	I355T	Likely pathogenic	1	1	39	8
MUT:AFG2A:Ile692Thr	PROT:Q8NB90	AFG2A	I	692	T	I692T	Likely pathogenic	1	1	39	1
MUT:AFG2A:Lys349Arg	PROT:Q8NB90	AFG2A	K	349	R	K349R	Benign/Likely benign	0	1	39	7
MUT:AFG2A:Phe725Ser	PROT:Q8NB90	AFG2A	F	725	S	F725S	Likely pathogenic	1	1	39	25
MUT:AFG2A:Pro795Arg	PROT:Q8NB90	AFG2A	P	795	R	P795R	Likely pathogenic	1	1	39	73
MUT:AFG2A:Ser359Asn	PROT:Q8NB90	AFG2A	S	359	N	S359N	Likely benign	0	1	39	4
MUT:AFG2A:Ser448Leu	PROT:Q8NB90	AFG2A	S	448	L	S448L	Pathogenic	1	1	39	13
MUT:AFG2A:Trp626Cys	PROT:Q8NB90	AFG2A	W	626	C	W626C	Likely pathogenic	1	1	39	10
MUT:AFG2A:Val766Met	PROT:Q8NB90	AFG2A	V	766	M	V766M	Likely pathogenic	1	1	39	66
MUT:AFG3L2:Ala529Val	PROT:Q9Y4W6	AFG3L2	A	529	V	A529V	Likely pathogenic	1	1	23	14
MUT:AFG3L2:Ala694Glu	PROT:Q9Y4W6	AFG3L2	A	694	E	A694E	Pathogenic	1	1	23	5
MUT:AFG3L2:Arg41Gln	PROT:Q9Y4W6	AFG3L2	R	41	Q	R41Q	Likely benign	0	1	23	59
MUT:AFG3L2:Arg468Cys	PROT:Q9Y4W6	AFG3L2	R	468	C	R468C	Pathogenic	1	2	23	40
MUT:AFG3L2:Arg651Gly	PROT:Q9Y4W6	AFG3L2	R	651	G	R651G	Likely pathogenic	1	1	23	17
MUT:AFG3L2:Arg702Leu	PROT:Q9Y4W6	AFG3L2	R	702	L	R702L	Likely pathogenic	1	1	23	13
MUT:AFG3L2:Asn432Thr	PROT:Q9Y4W6	AFG3L2	N	432	T	N432T	Pathogenic	1	1	23	76
MUT:AFG3L2:Asp407Gly	PROT:Q9Y4W6	AFG3L2	D	407	G	D407G	Likely pathogenic	1	1	23	53
MUT:AFG3L2:Gln620Lys	PROT:Q9Y4W6	AFG3L2	Q	620	K	Q620K	Pathogenic	1	1	23	2
MUT:AFG3L2:Glu691Lys	PROT:Q9Y4W6	AFG3L2	E	691	K	E691K	Pathogenic	1	1	23	2
MUT:AFG3L2:Glu700Lys	PROT:Q9Y4W6	AFG3L2	E	700	K	E700K	Pathogenic	1	1	23	11
MUT:AFG3L2:Gly337Glu	PROT:Q9Y4W6	AFG3L2	G	337	E	G337E	Pathogenic	1	1	23	5
MUT:AFG3L2:Gly383Val	PROT:Q9Y4W6	AFG3L2	G	383	V	G383V	Likely pathogenic	1	1	23	29
MUT:AFG3L2:Gly385Ser	PROT:Q9Y4W6	AFG3L2	G	385	S	G385S	Likely pathogenic	1	1	23	31
MUT:AFG3L2:Gly671Arg	PROT:Q9Y4W6	AFG3L2	G	671	R	G671R	Pathogenic	1	1	23	18
MUT:AFG3L2:Gly671Glu	PROT:Q9Y4W6	AFG3L2	G	671	E	G671E	Likely pathogenic	1	1	23	18
MUT:AFG3L2:Leu346Phe	PROT:Q9Y4W6	AFG3L2	L	346	F	L346F	Pathogenic	1	1	23	4
MUT:AFG3L2:Met625Ile	PROT:Q9Y4W6	AFG3L2	M	625	I	M625I	Likely pathogenic	1	2	23	7
MUT:AFG3L2:Met666Arg	PROT:Q9Y4W6	AFG3L2	M	666	R	M666R	Pathogenic	1	1	23	23
MUT:AFG3L2:Met666Thr	PROT:Q9Y4W6	AFG3L2	M	666	T	M666T	Pathogenic/Likely pathogenic	1	1	23	23
MUT:AFG3L2:Met666Val	PROT:Q9Y4W6	AFG3L2	M	666	V	M666V	Pathogenic/Likely pathogenic	1	1	23	23
MUT:AFG3L2:Phe377Ser	PROT:Q9Y4W6	AFG3L2	F	377	S	F377S	Likely pathogenic	1	2	23	23
MUT:AFG3L2:Pro514Leu	PROT:Q9Y4W6	AFG3L2	P	514	L	P514L	Pathogenic	1	1	23	6
MUT:AFG3L2:Pro688Ser	PROT:Q9Y4W6	AFG3L2	P	688	S	P688S	Likely pathogenic	1	1	23	1
MUT:AFG3L2:Pro688Thr	PROT:Q9Y4W6	AFG3L2	P	688	T	P688T	Likely pathogenic	1	1	23	1
MUT:AFG3L2:Ser373Arg	PROT:Q9Y4W6	AFG3L2	S	373	R	S373R	Likely pathogenic	1	1	23	19
MUT:AFG3L2:Ser674Leu	PROT:Q9Y4W6	AFG3L2	S	674	L	S674L	Pathogenic	1	1	23	15
MUT:AFG3L2:Thr654Ile	PROT:Q9Y4W6	AFG3L2	T	654	I	T654I	Likely pathogenic	1	1	23	20
MUT:AFG3L2:Tyr616Cys	PROT:Q9Y4W6	AFG3L2	Y	616	C	Y616C	Pathogenic	1	1	23	2
MUT:AFG3L2:Tyr689His	PROT:Q9Y4W6	AFG3L2	Y	689	H	Y689H	Pathogenic/Likely pathogenic	1	1	23	0
MUT:AFG3L2:Val571Gly	PROT:Q9Y4W6	AFG3L2	V	571	G	V571G	Likely pathogenic	1	1	23	13
MUT:AFG3L2:Val571Met	PROT:Q9Y4W6	AFG3L2	V	571	M	V571M	Likely pathogenic	1	1	23	13
MUT:AFP:Gly608Arg	PROT:P02771	AFP	G	608	R	G608R	Likely pathogenic	1	1	9	163
MUT:AFP:Phe50Tyr	PROT:P02771	AFP	F	50	Y	F50Y	Likely benign	0	1	9	61
MUT:AFP:Thr547Ile	PROT:P02771	AFP	T	547	I	T547I	Benign	0	1	9	102
MUT:AGAP2:Ala11Val	PROT:Q99490	AGAP2	A	11	V	A11V	Likely benign	0	1	28	488
MUT:AGAP2:Glu438Gln	PROT:Q99490	AGAP2	E	438	Q	E438Q	Benign	0	1	28	61
MUT:AGAP2:Gly507Ser	PROT:Q99490	AGAP2	G	507	S	G507S	Likely benign	0	1	28	8
MUT:AGAP2:Met446Thr	PROT:Q99490	AGAP2	M	446	T	M446T	Likely benign	0	1	28	53
MUT:AGBL5:Arg193Trp	PROT:Q8NDL9	AGBL5	R	193	W	R193W	Likely pathogenic	1	1	6	124
MUT:AGBL5:Arg792Gln	PROT:Q8NDL9	AGBL5	R	792	Q	R792Q	Benign/Likely benign	0	1	6	19
MUT:AGBL5:Arg813Gln	PROT:Q8NDL9	AGBL5	R	813	Q	R813Q	Benign/Likely benign	0	3	6	2
MUT:AGBL5:Asp295Asn	PROT:Q8NDL9	AGBL5	D	295	N	D295N	Pathogenic	1	1	6	22
MUT:AGBL5:Gln376His	PROT:Q8NDL9	AGBL5	Q	376	H	Q376H	Likely benign	0	1	6	14
MUT:AGBL5:Gly202Arg	PROT:Q8NDL9	AGBL5	G	202	R	G202R	Benign	0	1	6	115
MUT:AGBL5:Gly411Glu	PROT:Q8NDL9	AGBL5	G	411	E	G411E	Likely benign	0	1	6	21
MUT:AGBL5:Pro108Arg	PROT:Q8NDL9	AGBL5	P	108	R	P108R	Likely pathogenic	1	1	6	209
MUT:AGBL5:Pro540Ser	PROT:Q8NDL9	AGBL5	P	540	S	P540S	Likely pathogenic	1	1	6	1
MUT:AGBL5:Thr725Ala	PROT:Q8NDL9	AGBL5	T	725	A	T725A	Likely benign	0	1	6	61
MUT:AGBL5:Val695Ile	PROT:Q8NDL9	AGBL5	V	695	I	V695I	Benign/Likely benign	0	1	6	31
MUT:AGK:Ile232Thr	PROT:Q53H12	AGK	I	232	T	I232T	Likely benign	0	1	9	33
MUT:AGK:Lys6Arg	PROT:Q53H12	AGK	K	6	R	K6R	Benign/Likely benign	0	3	9	0
MUT:AGK:Met1Ile	PROT:Q53H12	AGK	M	1	I	M1I	Pathogenic	1	1	9	5
MUT:AGK:Thr139Arg	PROT:Q53H12	AGK	T	139	R	T139R	Likely benign	0	1	9	57
MUT:AGO2:Arg714Trp	PROT:Q9UKV8	AGO2	R	714	W	R714W	Pathogenic/Likely pathogenic	1	1	32	6
MUT:AGO2:Cys751Tyr	PROT:Q9UKV8	AGO2	C	751	Y	C751Y	Pathogenic/Likely pathogenic	1	1	32	1
MUT:AGO2:Glu197Lys	PROT:Q9UKV8	AGO2	E	197	K	E197K	Likely pathogenic	1	1	32	106
MUT:AGO2:Gly201Val	PROT:Q9UKV8	AGO2	G	201	V	G201V	Pathogenic/Likely pathogenic	1	1	32	102
MUT:AGO2:Gly604Arg	PROT:Q9UKV8	AGO2	G	604	R	G604R	Pathogenic/Likely pathogenic	1	1	32	38
MUT:AGO2:Gly733Arg	PROT:Q9UKV8	AGO2	G	733	R	G733R	Pathogenic	1	1	32	7
MUT:AGO2:Leu192Pro	PROT:Q9UKV8	AGO2	L	192	P	L192P	Pathogenic	1	1	32	101
MUT:AGO2:Leu339Phe	PROT:Q9UKV8	AGO2	L	339	F	L339F	Likely benign	0	1	32	4
MUT:AGO2:Leu540Pro	PROT:Q9UKV8	AGO2	L	540	P	L540P	Likely pathogenic	1	1	32	7
MUT:AGO2:Met364Thr	PROT:Q9UKV8	AGO2	M	364	T	M364T	Pathogenic	1	1	32	7
MUT:AGO2:Pro340His	PROT:Q9UKV8	AGO2	P	340	H	P340H	Likely pathogenic	1	1	32	5
MUT:AGO2:Thr357Met	PROT:Q9UKV8	AGO2	T	357	M	T357M	Pathogenic/Likely pathogenic	1	1	32	0
MUT:AGO2:Val797Met	PROT:Q9UKV8	AGO2	V	797	M	V797M	Likely pathogenic	1	1	32	1
MUT:AGPAT2:Ala239Val	PROT:O15120	AGPAT2	A	239	V	A239V	Benign/Likely benign	0	1	5	2
MUT:AGPAT2:Ala270Val	PROT:O15120	AGPAT2	A	270	V	A270V	Benign	0	2	5	9
MUT:AGPAT2:Arg159Cys	PROT:O15120	AGPAT2	R	159	C	R159C	Benign/Likely benign	0	3	5	74
MUT:AGPAT2:Arg84His	PROT:O15120	AGPAT2	R	84	H	R84H	Likely benign	0	1	5	13
MUT:AGPAT2:Glu172Lys	PROT:O15120	AGPAT2	E	172	K	E172K	Pathogenic/Likely pathogenic	1	1	5	61
MUT:AGPAT2:Gly136Arg	PROT:O15120	AGPAT2	G	136	R	G136R	Pathogenic	1	1	5	65
MUT:AGPAT2:Leu228Pro	PROT:O15120	AGPAT2	L	228	P	L228P	Pathogenic	1	1	5	5
MUT:AGPAT2:Met105Val	PROT:O15120	AGPAT2	M	105	V	M105V	Pathogenic	1	1	5	34
MUT:AGPAT2:Pro112Leu	PROT:O15120	AGPAT2	P	112	L	P112L	Likely pathogenic	1	1	5	41
MUT:AGPAT2:Ser100Asn	PROT:O15120	AGPAT2	S	100	N	S100N	Pathogenic	1	1	5	29
MUT:AGPAT2:Val245Met	PROT:O15120	AGPAT2	V	245	M	V245M	Likely benign	0	1	5	8
MUT:AGPAT2:Val95Ile	PROT:O15120	AGPAT2	V	95	I	V95I	Likely benign	0	1	5	24
MUT:AGTR1:Ala163Thr	PROT:P30556	AGTR1	A	163	T	A163T	Likely benign	0	1	2	102
MUT:AGTR1:Ala244Ser	PROT:P30556	AGTR1	A	244	S	A244S	Benign/Likely benign	0	2	2	21
MUT:AGTR1:Thr282Met	PROT:P30556	AGTR1	T	282	M	T282M	Pathogenic	1	1	2	17
MUT:AGTR1:Val65Ile	PROT:P30556	AGTR1	V	65	I	V65I	Likely benign	0	2	2	200
MUT:AGTR2:Arg248Lys	PROT:P50052	AGTR2	R	248	K	R248K	Benign	0	1	2	100
MUT:AGTR2:Gly21Val	PROT:P50052	AGTR2	G	21	V	G21V	Benign/Likely benign	0	1	2	327
MUT:AHCTF1:Asp1922Gly	PROT:Q8WYP5	AHCTF1	D	1922	G	D1922G	Likely benign	0	7	93	1
MUT:AHCY:Ala89Gly	PROT:P23526	AHCY	A	89	G	A89G	Likely pathogenic	1	1	36	11
MUT:AHCY:Arg335Cys	PROT:P23526	AHCY	R	335	C	R335C	Likely benign	0	1	36	4
MUT:AHCY:Arg36Trp	PROT:P23526	AHCY	R	36	W	R36W	Likely pathogenic	1	1	36	7
MUT:AHCY:Arg38Trp	PROT:P23526	AHCY	R	38	W	R38W	Benign/Likely benign	0	1	36	5
MUT:AHCY:Arg49Cys	PROT:P23526	AHCY	R	49	C	R49C	Pathogenic/Likely pathogenic	1	1	36	3
MUT:AHCY:Asp86Gly	PROT:P23526	AHCY	D	86	G	D86G	Pathogenic/Likely pathogenic	1	1	36	14
MUT:AHCY:Cys421Arg	PROT:P23526	AHCY	C	421	R	C421R	Likely benign	0	1	36	1
MUT:AHCY:Glu108Lys	PROT:P23526	AHCY	E	108	K	E108K	Likely pathogenic	1	1	36	8
MUT:AHCY:Gly123Arg	PROT:P23526	AHCY	G	123	R	G123R	Likely benign	0	2	36	19
MUT:AHCY:Pro98Leu	PROT:P23526	AHCY	P	98	L	P98L	Pathogenic/Likely pathogenic	1	1	36	2
MUT:AHCY:Thr158Met	PROT:P23526	AHCY	T	158	M	T158M	Likely pathogenic	1	1	36	0
MUT:AHCY:Thr57Ile	PROT:P23526	AHCY	T	57	I	T57I	Pathogenic	1	1	36	11
MUT:AHCY:Tyr143Cys	PROT:P23526	AHCY	Y	143	C	Y143C	Pathogenic/Likely pathogenic	1	2	36	0
MUT:AHCY:Val217Met	PROT:P23526	AHCY	V	217	M	V217M	Pathogenic	1	1	36	9
MUT:AHNAK:Glu4626Lys	PROT:Q09666	AHNAK	E	4626	K	E4626K	Likely benign	0	1	610	32
MUT:AHNAK:Gly148Val	PROT:Q09666	AHNAK	G	148	V	G148V	Benign	0	2	610	2
MUT:AHNAK:Leu122Val	PROT:Q09666	AHNAK	L	122	V	L122V	Benign	0	1	610	3
MUT:AHNAK:Pro2521Arg	PROT:Q09666	AHNAK	P	2521	R	P2521R	Benign/Likely benign	0	1	610	2
MUT:AHNAK:Val142Ile	PROT:Q09666	AHNAK	V	142	I	V142I	Likely benign	0	1	610	4
MUT:AIMP2:Asn104Ser	PROT:Q13155	AIMP2	N	104	S	N104S	Likely benign	0	1	10	10
MUT:AIMP2:Leu166Ile	PROT:Q13155	AIMP2	L	166	I	L166I	Benign	0	1	10	1
MUT:AIMP2:Ser34Thr	PROT:Q13155	AIMP2	S	34	T	S34T	Likely benign	0	1	10	43
MUT:AIMP2:Tyr25Cys	PROT:Q13155	AIMP2	Y	25	C	Y25C	Likely pathogenic	1	1	10	52
MUT:AIMP2:Val6Leu	PROT:Q13155	AIMP2	V	6	L	V6L	Benign/Likely benign	0	1	10	71
MUT:AK7:His394Arg	PROT:Q96M32	AK7	H	394	R	H394R	Benign	0	1	3	3
MUT:AK7:Leu152Pro	PROT:Q96M32	AK7	L	152	P	L152P	Likely benign	0	1	3	54
MUT:AKAP10:Arg249His	PROT:O43572	AKAP10	R	249	H	R249H	Benign	0	1	10	10
MUT:AKAP10:Ser523Leu	PROT:O43572	AKAP10	S	523	L	S523L	Benign	0	1	10	62
MUT:AKAP11:Arg903His	PROT:Q9UKA4	AKAP11	R	903	H	R903H	Likely benign	0	1	46	6
MUT:AKAP11:Asn105Ser	PROT:Q9UKA4	AKAP11	N	105	S	N105S	Benign	0	2	46	25
MUT:AKAP11:Phe1318Cys	PROT:Q9UKA4	AKAP11	F	1318	C	F1318C	Likely benign	0	1	46	29
MUT:AKAP11:Thr1459Ala	PROT:Q9UKA4	AKAP11	T	1459	A	T1459A	Benign	0	1	46	11
MUT:AKAP13:Glu2530Lys	PROT:Q12802	AKAP13	E	2530	K	E2530K	Likely benign	0	1	89	31
MUT:AKAP13:Ser1525Gly	PROT:Q12802	AKAP13	S	1525	G	S1525G	Benign	0	3	89	13
MUT:AKAP4:Ala267Val	PROT:Q5JQC9	AKAP4	A	267	V	A267V	Likely benign	0	1	33	1
MUT:AKAP4:Gly497Ser	PROT:Q5JQC9	AKAP4	G	497	S	G497S	Likely benign	0	1	33	5
MUT:AKAP8:Gly263Arg	PROT:O43823	AKAP8	G	263	R	G263R	Likely benign	0	1	26	43
MUT:AKR1C3:Arg199Gln	PROT:P42330	AKR1C3	R	199	Q	R199Q	Benign	0	1	22	10
MUT:AKR1C4:Ala243Thr	PROT:P17516	AKR1C4	A	243	T	A243T	Benign	0	1	15	11
MUT:AKR1C4:Arg76Thr	PROT:P17516	AKR1C4	R	76	T	R76T	Likely benign	0	1	15	1
MUT:AKR1C4:Glu237Gln	PROT:P17516	AKR1C4	E	237	Q	E237Q	Likely benign	0	1	15	5
MUT:AKR1C4:Gly135Glu	PROT:P17516	AKR1C4	G	135	E	G135E	Benign	0	1	15	26
MUT:AKR1C4:His14Gln	PROT:P17516	AKR1C4	H	14	Q	H14Q	Likely benign	0	1	15	54
MUT:AKR1C4:Leu182Val	PROT:P17516	AKR1C4	L	182	V	L182V	Likely benign	0	1	15	3
MUT:AKR1D1:Arg261Cys	PROT:P51857	AKR1D1	R	261	C	R261C	Pathogenic/Likely pathogenic	1	2	7	15
MUT:AKR1D1:Arg266Gln	PROT:P51857	AKR1D1	R	266	Q	R266Q	Pathogenic/Likely pathogenic	1	1	7	20
MUT:AKR1D1:Arg307Cys	PROT:P51857	AKR1D1	R	307	C	R307C	Likely pathogenic	1	1	7	61
MUT:AKR1D1:Asp53Gly	PROT:P51857	AKR1D1	D	53	G	D53G	Likely pathogenic	1	1	7	18
MUT:AKR1D1:Leu106Phe	PROT:P51857	AKR1D1	L	106	F	L106F	Pathogenic	1	1	7	35
MUT:AKR1D1:Trp314Arg	PROT:P51857	AKR1D1	W	314	R	W314R	Likely pathogenic	1	1	7	68
MUT:AKT2:Ala139Val	PROT:P31751	AKT2	A	139	V	A139V	Likely benign	0	1	31	8
MUT:AKT2:Ala143Thr	PROT:P31751	AKT2	A	143	T	A143T	Benign	0	1	31	12
MUT:AKT2:Ala58Val	PROT:P31751	AKT2	A	58	V	A58V	Likely benign	0	1	31	19
MUT:AKT2:Arg144Trp	PROT:P31751	AKT2	R	144	W	R144W	Likely benign	0	1	31	12
MUT:AKT2:Arg253Trp	PROT:P31751	AKT2	R	253	W	R253W	Likely benign	0	1	31	24
MUT:AKT2:Arg274His	PROT:P31751	AKT2	R	274	H	R274H	Likely pathogenic	1	1	31	3
MUT:AKT2:Arg357Cys	PROT:P31751	AKT2	R	357	C	R357C	Likely benign	0	1	31	21
MUT:AKT2:Arg480Cys	PROT:P31751	AKT2	R	480	C	R480C	Likely benign	0	1	31	2
MUT:AKT2:Glu17Lys	PROT:P31751	AKT2	E	17	K	E17K	Pathogenic	1	1	31	3
MUT:AKT2:Ile412Leu	PROT:P31751	AKT2	I	412	L	I412L	Likely benign	0	1	31	11
MUT:AKT2:Lys172Arg	PROT:P31751	AKT2	K	172	R	K172R	Benign	0	1	31	12
MUT:AKT2:Met344Ile	PROT:P31751	AKT2	M	344	I	M344I	Likely benign	0	1	31	28
MUT:AKT2:Pro50Thr	PROT:P31751	AKT2	P	50	T	P50T	Benign	0	1	31	11
MUT:AKT2:Thr132Met	PROT:P31751	AKT2	T	132	M	T132M	Likely benign	0	1	31	1
MUT:ALAD:Ala274Thr	PROT:P13716	ALAD	A	274	T	A274T	Pathogenic	1	1	3	59
MUT:ALAD:Arg231Gln	PROT:P13716	ALAD	R	231	Q	R231Q	Likely benign	0	1	3	16
MUT:ALAD:Gly133Arg	PROT:P13716	ALAD	G	133	R	G133R	Likely pathogenic	1	1	3	80
MUT:ALAD:His106Arg	PROT:P13716	ALAD	H	106	R	H106R	Likely benign	0	1	3	107
MUT:ALAD:Lys59Asn	PROT:P13716	ALAD	K	59	N	K59N	Benign/Likely benign	0	2	3	154
MUT:ALAS2:Arg170Ser	PROT:P22557	ALAS2	R	170	S	R170S	Pathogenic	1	1	3	4
MUT:ALAS2:Arg411Cys	PROT:P22557	ALAS2	R	411	C	R411C	Pathogenic	1	1	3	84
MUT:ALAS2:Arg452Cys	PROT:P22557	ALAS2	R	452	C	R452C	Pathogenic	1	2	3	43
MUT:ALAS2:Arg479Gln	PROT:P22557	ALAS2	R	479	Q	R479Q	Benign/Likely benign	0	2	3	16
MUT:ALAS2:Arg559His	PROT:P22557	ALAS2	R	559	H	R559H	Benign/Likely benign	0	2	3	64
MUT:ALAS2:Asp159Asn	PROT:P22557	ALAS2	D	159	N	D159N	Pathogenic	1	1	3	7
MUT:ALAS2:Asp159Tyr	PROT:P22557	ALAS2	D	159	Y	D159Y	Pathogenic	1	1	3	7
MUT:ALAS2:Asp190Val	PROT:P22557	ALAS2	D	190	V	D190V	Pathogenic	1	1	3	9
MUT:ALAS2:Cys395Tyr	PROT:P22557	ALAS2	C	395	Y	C395Y	Pathogenic	1	1	3	100
MUT:ALAS2:Glu123Lys	PROT:P22557	ALAS2	E	123	K	E123K	Likely benign	0	1	3	43
MUT:ALAS2:Glu441Lys	PROT:P22557	ALAS2	E	441	K	E441K	Benign/Likely benign	0	1	3	54
MUT:ALAS2:Gly291Ser	PROT:P22557	ALAS2	G	291	S	G291S	Pathogenic	1	1	3	92
MUT:ALAS2:His524Arg	PROT:P22557	ALAS2	H	524	R	H524R	Likely pathogenic	1	1	3	29
MUT:ALAS2:His524Asp	PROT:P22557	ALAS2	H	524	D	H524D	Pathogenic	1	1	3	29
MUT:ALAS2:Ile372Thr	PROT:P22557	ALAS2	I	372	T	I372T	Likely pathogenic	1	1	3	123
MUT:ALAS2:Ile476Asn	PROT:P22557	ALAS2	I	476	N	I476N	Pathogenic	1	1	3	19
MUT:ALAS2:Leu461His	PROT:P22557	ALAS2	L	461	H	L461H	Likely pathogenic	1	1	3	34
MUT:ALAS2:Lys299Gln	PROT:P22557	ALAS2	K	299	Q	K299Q	Pathogenic	1	1	3	100
MUT:ALAS2:Phe165Leu	PROT:P22557	ALAS2	F	165	L	F165L	Pathogenic	1	1	3	1
MUT:ALAS2:Phe302Ser	PROT:P22557	ALAS2	F	302	S	F302S	Likely pathogenic	1	1	3	103
MUT:ALAS2:Pro520Leu	PROT:P22557	ALAS2	P	520	L	P520L	Benign/Likely benign	0	2	3	25
MUT:ALAS2:Ser568Gly	PROT:P22557	ALAS2	S	568	G	S568G	Pathogenic	1	1	3	73
MUT:ALAS2:Ser573Phe	PROT:P22557	ALAS2	S	573	F	S573F	Benign/Likely benign	0	2	3	78
MUT:ALAS2:Thr388Ser	PROT:P22557	ALAS2	T	388	S	T388S	Pathogenic	1	1	3	107
MUT:ALAS2:Tyr199His	PROT:P22557	ALAS2	Y	199	H	Y199H	Pathogenic	1	1	3	0
MUT:ALB:Ala239Ser	PROT:P02768	ALB	A	239	S	A239S	Likely benign	0	1	60	3
MUT:ALB:Ala83Val	PROT:P02768	ALB	A	83	V	A83V	Benign/Likely benign	0	1	60	1
MUT:ALB:Arg242Pro	PROT:P02768	ALB	R	242	P	R242P	Pathogenic	1	1	60	2
MUT:ALB:Arg242Ser	PROT:P02768	ALB	R	242	S	R242S	Pathogenic	1	1	60	2
MUT:ALB:Arg24Pro	PROT:P02768	ALB	R	24	P	R24P	Pathogenic	1	1	60	5
MUT:ALB:Asp25Val	PROT:P02768	ALB	D	25	V	D25V	Pathogenic	1	1	60	4
MUT:ALB:Asp574Gly	PROT:P02768	ALB	D	574	G	D574G	Benign/Likely benign	0	1	60	5
MUT:ALB:Glu594Lys	PROT:P02768	ALB	E	594	K	E594K	Pathogenic	1	1	60	9
MUT:ALB:Leu90Pro	PROT:P02768	ALB	L	90	P	L90P	Pathogenic	1	1	60	1
MUT:ALB:Met353Thr	PROT:P02768	ALB	M	353	T	M353T	Likely benign	0	1	60	12
MUT:ALB:Tyr358Cys	PROT:P02768	ALB	Y	358	C	Y358C	Likely benign	0	1	60	7
MUT:ALDH18A1:Ala160Ser	PROT:P54886	ALDH18A1	A	160	S	A160S	Pathogenic	1	1	28	17
MUT:ALDH18A1:Ala494Val	PROT:P54886	ALDH18A1	A	494	V	A494V	Likely pathogenic	1	1	28	44
MUT:ALDH18A1:Arg126His	PROT:P54886	ALDH18A1	R	126	H	R126H	Likely pathogenic	1	1	28	2
MUT:ALDH18A1:Arg138Gln	PROT:P54886	ALDH18A1	R	138	Q	R138Q	Pathogenic	1	3	28	2
MUT:ALDH18A1:Arg138Leu	PROT:P54886	ALDH18A1	R	138	L	R138L	Pathogenic	1	2	28	2
MUT:ALDH18A1:Arg138Trp	PROT:P54886	ALDH18A1	R	138	W	R138W	Pathogenic	1	1	28	2
MUT:ALDH18A1:Arg252Gln	PROT:P54886	ALDH18A1	R	252	Q	R252Q	Pathogenic	1	3	28	4
MUT:ALDH18A1:Arg665Leu	PROT:P54886	ALDH18A1	R	665	L	R665L	Pathogenic	1	1	28	3
MUT:ALDH18A1:Arg749Gln	PROT:P54886	ALDH18A1	R	749	Q	R749Q	Pathogenic/Likely pathogenic	1	1	28	10
MUT:ALDH18A1:Asp715His	PROT:P54886	ALDH18A1	D	715	H	D715H	Likely pathogenic	1	2	28	44
MUT:ALDH18A1:Asp729Val	PROT:P54886	ALDH18A1	D	729	V	D729V	Likely pathogenic	1	1	28	30
MUT:ALDH18A1:Gly500Val	PROT:P54886	ALDH18A1	G	500	V	G500V	Pathogenic	1	1	28	38
MUT:ALDH18A1:His784Tyr	PROT:P54886	ALDH18A1	H	784	Y	H784Y	Pathogenic	1	1	28	3
MUT:ALDH18A1:Leu637Pro	PROT:P54886	ALDH18A1	L	637	P	L637P	Pathogenic	1	1	28	12
MUT:ALDH18A1:Ser134Phe	PROT:P54886	ALDH18A1	S	134	F	S134F	Pathogenic	1	1	28	2
MUT:ALDH18A1:Ser372Tyr	PROT:P54886	ALDH18A1	S	372	Y	S372Y	Benign	0	2	28	36
MUT:ALDH18A1:Thr299Ile	PROT:P54886	ALDH18A1	T	299	I	T299I	Benign	0	4	28	1
MUT:ALDH18A1:Tyr782His	PROT:P54886	ALDH18A1	Y	782	H	Y782H	Likely pathogenic	1	1	28	1
MUT:ALDH18A1:Val120Ala	PROT:P54886	ALDH18A1	V	120	A	V120A	Pathogenic	1	1	28	3
MUT:ALDH18A1:Val243Leu	PROT:P54886	ALDH18A1	V	243	L	V243L	Likely pathogenic	1	2	28	5
MUT:ALDH4A1:Ala145Thr	PROT:P30038	ALDH4A1	A	145	T	A145T	Benign/Likely benign	0	1	8	46
MUT:ALDH4A1:Arg60Gln	PROT:P30038	ALDH4A1	R	60	Q	R60Q	Likely benign	0	1	8	8
MUT:ALDH4A1:Glu35Lys	PROT:P30038	ALDH4A1	E	35	K	E35K	Likely benign	0	1	8	9
MUT:ALDH4A1:Ile167Phe	PROT:P30038	ALDH4A1	I	167	F	I167F	Likely benign	0	1	8	68
MUT:ALDH4A1:Lys462Thr	PROT:P30038	ALDH4A1	K	462	T	K462T	Likely benign	0	2	8	0
MUT:ALDH4A1:Phe388Leu	PROT:P30038	ALDH4A1	F	388	L	F388L	Benign/Likely benign	0	1	8	41
MUT:ALDH4A1:Pro16Leu	PROT:P30038	ALDH4A1	P	16	L	P16L	Benign/Likely benign	0	1	8	28
MUT:ALDH4A1:Pro544Leu	PROT:P30038	ALDH4A1	P	544	L	P544L	Benign/Likely benign	0	1	8	39
MUT:ALDH4A1:Thr195Met	PROT:P30038	ALDH4A1	T	195	M	T195M	Benign/Likely benign	0	1	8	96
MUT:ALDH4A1:Thr473Ala	PROT:P30038	ALDH4A1	T	473	A	T473A	Benign	0	1	8	11
MUT:ALDH4A1:Val155Met	PROT:P30038	ALDH4A1	V	155	M	V155M	Likely benign	0	1	8	56
MUT:ALDH4A1:Val470Ile	PROT:P30038	ALDH4A1	V	470	I	V470I	Benign	0	2	8	8
MUT:ALDH6A1:Arg535Cys	PROT:Q02252	ALDH6A1	R	535	C	R535C	Pathogenic	1	1	8	155
MUT:ALDH6A1:Arg535His	PROT:Q02252	ALDH6A1	R	535	H	R535H	Benign	0	1	8	155
MUT:ALDH6A1:Gly446Arg	PROT:Q02252	ALDH6A1	G	446	R	G446R	Pathogenic	1	1	8	66
MUT:ALDH6A1:Phe33Ile	PROT:Q02252	ALDH6A1	F	33	I	F33I	Likely benign	0	2	8	19
MUT:ALDH6A1:Pro252Leu	PROT:Q02252	ALDH6A1	P	252	L	P252L	Likely benign	0	1	8	10
MUT:ALDH6A1:Pro421Ser	PROT:Q02252	ALDH6A1	P	421	S	P421S	Pathogenic	1	1	8	41
MUT:ALDH6A1:Pro62Ser	PROT:Q02252	ALDH6A1	P	62	S	P62S	Pathogenic	1	1	8	7
MUT:ALDH6A1:Ser262Tyr	PROT:Q02252	ALDH6A1	S	262	Y	S262Y	Pathogenic	1	1	8	0
MUT:ALDH6A1:Tyr172His	PROT:Q02252	ALDH6A1	Y	172	H	Y172H	Pathogenic	1	1	8	2
MUT:ALG10:Met61Val	PROT:Q5BKT4	ALG10	M	61	V	M61V	Likely pathogenic	1	1	2	62
MUT:ALG10:Val447Ile	PROT:Q5BKT4	ALG10	V	447	I	V447I	Benign	0	1	2	81
MUT:ALKBH8:Arg559His	PROT:Q96BT7	ALKBH8	R	559	H	R559H	Likely benign	0	1	2	137
MUT:ALKBH8:Arg571Lys	PROT:Q96BT7	ALKBH8	R	571	K	R571K	Benign	0	1	2	149
MUT:ALKBH8:Asn49Ser	PROT:Q96BT7	ALKBH8	N	49	S	N49S	Likely benign	0	1	2	148
MUT:ALKBH8:Asp653Tyr	PROT:Q96BT7	ALKBH8	D	653	Y	D653Y	Benign	0	1	2	231
MUT:ALKBH8:Cys296Gly	PROT:Q96BT7	ALKBH8	C	296	G	C296G	Benign	0	1	2	99
MUT:ALKBH8:Cys467Ser	PROT:Q96BT7	ALKBH8	C	467	S	C467S	Benign	0	1	2	45
MUT:ALKBH8:Gly567Glu	PROT:Q96BT7	ALKBH8	G	567	E	G567E	Likely benign	0	1	2	145
MUT:ALKBH8:Gly612Cys	PROT:Q96BT7	ALKBH8	G	612	C	G612C	Benign	0	4	2	190
MUT:ALKBH8:His474Asn	PROT:Q96BT7	ALKBH8	H	474	N	H474N	Likely benign	0	1	2	52
MUT:ALKBH8:Pro607Arg	PROT:Q96BT7	ALKBH8	P	607	R	P607R	Benign/Likely benign	0	1	2	185
MUT:ALKBH8:Thr478Ala	PROT:Q96BT7	ALKBH8	T	478	A	T478A	Likely benign	0	4	2	56
MUT:ALKBH8:Val106Met	PROT:Q96BT7	ALKBH8	V	106	M	V106M	Likely benign	0	2	2	91
MUT:ALOXE3:Ala150Asp	PROT:Q9BYJ1	ALOXE3	A	150	D	A150D	Likely benign	0	1	4	25
MUT:ALOXE3:Arg138Gln	PROT:Q9BYJ1	ALOXE3	R	138	Q	R138Q	Likely benign	0	1	4	37
MUT:ALOXE3:Arg145His	PROT:Q9BYJ1	ALOXE3	R	145	H	R145H	Pathogenic/Likely pathogenic	1	1	4	30
MUT:ALOXE3:Arg396Ser	PROT:Q9BYJ1	ALOXE3	R	396	S	R396S	Pathogenic	1	1	4	80
MUT:ALOXE3:Arg670Gln	PROT:Q9BYJ1	ALOXE3	R	670	Q	R670Q	Likely benign	0	1	4	354
MUT:ALOXE3:Arg678Cys	PROT:Q9BYJ1	ALOXE3	R	678	C	R678C	Benign	0	1	4	362
MUT:ALOXE3:Arg689Trp	PROT:Q9BYJ1	ALOXE3	R	689	W	R689W	Pathogenic/Likely pathogenic	1	2	4	373
MUT:ALOXE3:Asn160Ser	PROT:Q9BYJ1	ALOXE3	N	160	S	N160S	Likely benign	0	1	4	15
MUT:ALOXE3:Asn604Lys	PROT:Q9BYJ1	ALOXE3	N	604	K	N604K	Pathogenic	1	1	4	288
MUT:ALOXE3:Cys416Arg	PROT:Q9BYJ1	ALOXE3	C	416	R	C416R	Pathogenic	1	1	4	100
MUT:ALOXE3:Gln103Pro	PROT:Q9BYJ1	ALOXE3	Q	103	P	Q103P	Pathogenic	1	1	4	51
MUT:ALOXE3:Gly281Val	PROT:Q9BYJ1	ALOXE3	G	281	V	G281V	Pathogenic	1	1	4	19
MUT:ALOXE3:His403Arg	PROT:Q9BYJ1	ALOXE3	H	403	R	H403R	Likely pathogenic	1	3	4	87
MUT:ALOXE3:Ile218Thr	PROT:Q9BYJ1	ALOXE3	I	218	T	I218T	Likely benign	0	1	4	43
MUT:ALOXE3:Ile515Val	PROT:Q9BYJ1	ALOXE3	I	515	V	I515V	Benign	0	4	4	199
MUT:ALOXE3:Ile705Thr	PROT:Q9BYJ1	ALOXE3	I	705	T	I705T	Likely benign	0	1	4	389
MUT:ALOXE3:Leu237Met	PROT:Q9BYJ1	ALOXE3	L	237	M	L237M	Benign/Likely benign	0	1	4	62
MUT:ALOXE3:Leu427Pro	PROT:Q9BYJ1	ALOXE3	L	427	P	L427P	Pathogenic	1	1	4	111
MUT:ALOXE3:Pro11Leu	PROT:Q9BYJ1	ALOXE3	P	11	L	P11L	Benign	0	1	4	41
MUT:ALOXE3:Pro630Leu	PROT:Q9BYJ1	ALOXE3	P	630	L	P630L	Pathogenic/Likely pathogenic	1	4	4	314
MUT:ALOXE3:Ser398Phe	PROT:Q9BYJ1	ALOXE3	S	398	F	S398F	Pathogenic	1	1	4	82
MUT:ALOXE3:Trp388Cys	PROT:Q9BYJ1	ALOXE3	W	388	C	W388C	Pathogenic	1	1	4	72
MUT:ALOXE3:Tyr278Cys	PROT:Q9BYJ1	ALOXE3	Y	278	C	Y278C	Pathogenic	1	1	4	22
MUT:ALOXE3:Val500Phe	PROT:Q9BYJ1	ALOXE3	V	500	F	V500F	Pathogenic	1	1	4	184
MUT:ALPI:Arg144His	PROT:P09923	ALPI	R	144	H	R144H	Benign	0	1	9	6
MUT:ALPI:Arg33Leu	PROT:P09923	ALPI	R	33	L	R33L	Benign	0	1	9	10
MUT:ALPI:Arg92Cys	PROT:P09923	ALPI	R	92	C	R92C	Likely benign	0	1	9	19
MUT:ALPI:Asn146Lys	PROT:P09923	ALPI	N	146	K	N146K	Benign	0	1	9	4
MUT:ALPI:Thr207Ile	PROT:P09923	ALPI	T	207	I	T207I	Benign	0	1	9	28
MUT:ALPI:Val20Ile	PROT:P09923	ALPI	V	20	I	V20I	Benign	0	1	9	23
MUT:ALPK1:Arg1009Gly	PROT:Q96QP1	ALPK1	R	1009	G	R1009G	Likely benign	0	1	6	200
MUT:ALPK1:Asp632Asn	PROT:Q96QP1	ALPK1	D	632	N	D632N	Likely benign	0	1	6	84
MUT:ALPK1:Asp632His	PROT:Q96QP1	ALPK1	D	632	H	D632H	Benign	0	1	6	84
MUT:ALPK1:Cys818Tyr	PROT:Q96QP1	ALPK1	C	818	Y	C818Y	Benign/Likely benign	0	1	6	9
MUT:ALPK1:Gly689Glu	PROT:Q96QP1	ALPK1	G	689	E	G689E	Likely benign	0	1	6	27
MUT:ALPK1:Gly87Arg	PROT:Q96QP1	ALPK1	G	87	R	G87R	Likely benign	0	1	6	150
MUT:ALPK1:Gly894Ser	PROT:Q96QP1	ALPK1	G	894	S	G894S	Likely benign	0	1	6	85
MUT:ALPK1:His369Leu	PROT:Q96QP1	ALPK1	H	369	L	H369L	Benign	0	1	6	29
MUT:ALPK1:Met523Ile	PROT:Q96QP1	ALPK1	M	523	I	M523I	Benign/Likely benign	0	3	6	125
MUT:ALPK1:Pro293Gln	PROT:Q96QP1	ALPK1	P	293	Q	P293Q	Benign/Likely benign	0	1	6	56
MUT:ALPK1:Ser277Phe	PROT:Q96QP1	ALPK1	S	277	F	S277F	Likely pathogenic	1	1	6	40
MUT:ALPK1:Ser436Gly	PROT:Q96QP1	ALPK1	S	436	G	S436G	Likely benign	0	1	6	38
MUT:ALPK1:Thr237Met	PROT:Q96QP1	ALPK1	T	237	M	T237M	Pathogenic	1	2	6	0
MUT:ALPK1:Tyr254Cys	PROT:Q96QP1	ALPK1	Y	254	C	Y254C	Pathogenic	1	1	6	17
MUT:ALPK2:Ala1551Ser	PROT:Q86TB3	ALPK2	A	1551	S	A1551S	Benign	0	1	14	51
MUT:ALPK2:Ala1650Val	PROT:Q86TB3	ALPK2	A	1650	V	A1650V	Benign	0	1	14	47
MUT:ALPK2:Ala202Thr	PROT:Q86TB3	ALPK2	A	202	T	A202T	Benign	0	1	14	876
MUT:ALPK2:Arg136Ser	PROT:Q86TB3	ALPK2	R	136	S	R136S	Benign	0	1	14	942
MUT:ALPK2:Arg1884Cys	PROT:Q86TB3	ALPK2	R	1884	C	R1884C	Benign	0	1	14	16
MUT:ALPK2:Arg1913Cys	PROT:Q86TB3	ALPK2	R	1913	C	R1913C	Benign/Likely benign	0	1	14	45
MUT:ALPK2:Arg825Thr	PROT:Q86TB3	ALPK2	R	825	T	R825T	Benign	0	1	14	253
MUT:ALPK2:Asn916Lys	PROT:Q86TB3	ALPK2	N	916	K	N916K	Benign	0	1	14	162
MUT:ALPK2:Asp524Gly	PROT:Q86TB3	ALPK2	D	524	G	D524G	Benign	0	1	14	554
MUT:ALPK2:Gln1428Arg	PROT:Q86TB3	ALPK2	Q	1428	R	Q1428R	Benign	0	1	14	168
MUT:ALPK2:Gln1579Arg	PROT:Q86TB3	ALPK2	Q	1579	R	Q1579R	Benign	0	3	14	23
MUT:ALPK2:Gly1063Val	PROT:Q86TB3	ALPK2	G	1063	V	G1063V	Benign	0	1	14	15
MUT:ALPK2:Gly810Ser	PROT:Q86TB3	ALPK2	G	810	S	G810S	Benign	0	1	14	268
MUT:ALPK2:His1174Pro	PROT:Q86TB3	ALPK2	H	1174	P	H1174P	Benign	0	1	14	86
MUT:ALPK2:His1767Tyr	PROT:Q86TB3	ALPK2	H	1767	Y	H1767Y	Benign	0	1	14	39
MUT:ALPK2:His719Gln	PROT:Q86TB3	ALPK2	H	719	Q	H719Q	Benign	0	1	14	359
MUT:ALPK2:Ile1451Thr	PROT:Q86TB3	ALPK2	I	1451	T	I1451T	Likely benign	0	1	14	151
MUT:ALPK2:Ile153Val	PROT:Q86TB3	ALPK2	I	153	V	I153V	Benign	0	1	14	925
MUT:ALPK2:Ile2157Val	PROT:Q86TB3	ALPK2	I	2157	V	I2157V	Benign	0	1	14	16
MUT:ALPK2:Leu1057Val	PROT:Q86TB3	ALPK2	L	1057	V	L1057V	Benign	0	1	14	21
MUT:ALPK2:Lys1730Glu	PROT:Q86TB3	ALPK2	K	1730	E	K1730E	Benign	0	1	14	2
MUT:ALPK2:Lys2Thr	PROT:Q86TB3	ALPK2	K	2	T	K2T	Benign	0	1	14	1076
MUT:ALPK2:Lys829Asn	PROT:Q86TB3	ALPK2	K	829	N	K829N	Benign	0	1	14	249
MUT:ALPK2:Met1441Val	PROT:Q86TB3	ALPK2	M	1441	V	M1441V	Likely benign	0	1	14	161
MUT:ALPK2:Met487Arg	PROT:Q86TB3	ALPK2	M	487	R	M487R	Likely benign	0	1	14	591
MUT:ALPK2:Pro1449Ser	PROT:Q86TB3	ALPK2	P	1449	S	P1449S	Benign	0	1	14	153
MUT:ALPK2:Pro1850Leu	PROT:Q86TB3	ALPK2	P	1850	L	P1850L	Likely benign	0	1	14	18
MUT:ALPK2:Pro540Leu	PROT:Q86TB3	ALPK2	P	540	L	P540L	Benign	0	1	14	538
MUT:ALPK2:Pro826Thr	PROT:Q86TB3	ALPK2	P	826	T	P826T	Likely benign	0	1	14	252
MUT:ALPK2:Ser884Leu	PROT:Q86TB3	ALPK2	S	884	L	S884L	Benign	0	1	14	194
MUT:ALPK2:Ser977Thr	PROT:Q86TB3	ALPK2	S	977	T	S977T	Benign	0	1	14	101
MUT:ALPK2:Thr397Ile	PROT:Q86TB3	ALPK2	T	397	I	T397I	Benign	0	1	14	681
MUT:ALPK2:Thr875Pro	PROT:Q86TB3	ALPK2	T	875	P	T875P	Benign	0	1	14	203
MUT:ALPK2:Thr891Ile	PROT:Q86TB3	ALPK2	T	891	I	T891I	Benign	0	1	14	187
MUT:ALPK2:Tyr978His	PROT:Q86TB3	ALPK2	Y	978	H	Y978H	Benign	0	1	14	100
MUT:ALPK2:Val1195Met	PROT:Q86TB3	ALPK2	V	1195	M	V1195M	Benign	0	1	14	65
MUT:ALPK3:Ala1355Asp	PROT:Q96L96	ALPK3	A	1355	D	A1355D	Benign/Likely benign	0	2	8	28
MUT:ALPK3:Ala1492Thr	PROT:Q96L96	ALPK3	A	1492	T	A1492T	Benign/Likely benign	0	1	8	83
MUT:ALPK3:Ala1671Val	PROT:Q96L96	ALPK3	A	1671	V	A1671V	Benign/Likely benign	0	2	8	262
MUT:ALPK3:Ala35Val	PROT:Q96L96	ALPK3	A	35	V	A35V	Benign/Likely benign	0	2	8	193
MUT:ALPK3:Arg1210Trp	PROT:Q96L96	ALPK3	R	1210	W	R1210W	Benign/Likely benign	0	8	8	1
MUT:ALPK3:Arg134His	PROT:Q96L96	ALPK3	R	134	H	R134H	Benign/Likely benign	0	2	8	94
MUT:ALPK3:Arg53Gln	PROT:Q96L96	ALPK3	R	53	Q	R53Q	Benign/Likely benign	0	1	8	175
MUT:ALPK3:Cys508Gly	PROT:Q96L96	ALPK3	C	508	G	C508G	Benign/Likely benign	0	2	8	67
MUT:ALPK3:Gln1121Arg	PROT:Q96L96	ALPK3	Q	1121	R	Q1121R	Benign/Likely benign	0	2	8	88
MUT:ALPK3:Gln400Arg	PROT:Q96L96	ALPK3	Q	400	R	Q400R	Benign/Likely benign	0	2	8	30
MUT:ALPK3:Gln726Arg	PROT:Q96L96	ALPK3	Q	726	R	Q726R	Benign	0	2	8	2
MUT:ALPK3:Glu811Lys	PROT:Q96L96	ALPK3	E	811	K	E811K	Benign	0	2	8	83
MUT:ALPK3:Gly377Glu	PROT:Q96L96	ALPK3	G	377	E	G377E	Benign/Likely benign	0	1	8	53
MUT:ALPK3:Gly461Asp	PROT:Q96L96	ALPK3	G	461	D	G461D	Benign/Likely benign	0	2	8	20
MUT:ALPK3:Leu1420Pro	PROT:Q96L96	ALPK3	L	1420	P	L1420P	Benign/Likely benign	0	1	8	11
MUT:ALPK3:Pro1097Leu	PROT:Q96L96	ALPK3	P	1097	L	P1097L	Benign	0	1	8	112
MUT:ALPK3:Pro446Thr	PROT:Q96L96	ALPK3	P	446	T	P446T	Benign/Likely benign	0	1	8	5
MUT:ALPK3:Pro844Ser	PROT:Q96L96	ALPK3	P	844	S	P844S	Benign	0	4	8	116
MUT:ALPK3:Thr212Ser	PROT:Q96L96	ALPK3	T	212	S	T212S	Benign/Likely benign	0	1	8	16
MUT:ALPK3:Thr559Met	PROT:Q96L96	ALPK3	T	559	M	T559M	Benign	0	2	8	118
MUT:ALPK3:Thr866Met	PROT:Q96L96	ALPK3	T	866	M	T866M	Benign/Likely benign	0	2	8	138
MUT:ALPK3:Tyr295Cys	PROT:Q96L96	ALPK3	Y	295	C	Y295C	Benign/Likely benign	0	3	8	67
MUT:ALPL:Ala111Thr	PROT:P05186	ALPL	A	111	T	A111T	Pathogenic/Likely pathogenic	1	2	8	1
MUT:ALPL:Ala111Val	PROT:P05186	ALPL	A	111	V	A111V	Likely pathogenic	1	1	8	1
MUT:ALPL:Ala114Thr	PROT:P05186	ALPL	A	114	T	A114T	Pathogenic	1	2	8	1
MUT:ALPL:Ala116Ser	PROT:P05186	ALPL	A	116	S	A116S	Likely pathogenic	1	1	8	1
MUT:ALPL:Ala116Thr	PROT:P05186	ALPL	A	116	T	A116T	Pathogenic	1	6	8	1
MUT:ALPL:Ala123Asp	PROT:P05186	ALPL	A	123	D	A123D	Pathogenic/Likely pathogenic	1	3	8	6
MUT:ALPL:Ala132Thr	PROT:P05186	ALPL	A	132	T	A132T	Likely pathogenic	1	2	8	1
MUT:ALPL:Ala132Val	PROT:P05186	ALPL	A	132	V	A132V	Pathogenic/Likely pathogenic	1	3	8	1
MUT:ALPL:Ala154Val	PROT:P05186	ALPL	A	154	V	A154V	Likely pathogenic	1	1	8	5
MUT:ALPL:Ala176Thr	PROT:P05186	ALPL	A	176	T	A176T	Pathogenic/Likely pathogenic	1	7	8	16
MUT:ALPL:Ala176Val	PROT:P05186	ALPL	A	176	V	A176V	Likely pathogenic	1	1	8	16
MUT:ALPL:Ala179Thr	PROT:P05186	ALPL	A	179	T	A179T	Pathogenic	1	4	8	19
MUT:ALPL:Ala33Val	PROT:P05186	ALPL	A	33	V	A33V	Pathogenic/Likely pathogenic	1	4	8	15
MUT:ALPL:Ala348Asp	PROT:P05186	ALPL	A	348	D	A348D	Likely pathogenic	1	1	8	188
MUT:ALPL:Ala348Thr	PROT:P05186	ALPL	A	348	T	A348T	Pathogenic/Likely pathogenic	1	4	8	188
MUT:ALPL:Ala377Val	PROT:P05186	ALPL	A	377	V	A377V	Pathogenic/Likely pathogenic	1	3	8	217
MUT:ALPL:Ala399Ser	PROT:P05186	ALPL	A	399	S	A399S	Pathogenic/Likely pathogenic	1	1	8	239
MUT:ALPL:Ala399Val	PROT:P05186	ALPL	A	399	V	A399V	Likely pathogenic	1	2	8	239
MUT:ALPL:Ala40Val	PROT:P05186	ALPL	A	40	V	A40V	Pathogenic/Likely pathogenic	1	3	8	8
MUT:ALPL:Ala443Glu	PROT:P05186	ALPL	A	443	E	A443E	Likely pathogenic	1	1	8	283
MUT:ALPL:Ala443Gly	PROT:P05186	ALPL	A	443	G	A443G	Likely pathogenic	1	1	8	283
MUT:ALPL:Ala443Thr	PROT:P05186	ALPL	A	443	T	A443T	Likely pathogenic	1	1	8	283
MUT:ALPL:Ala443Val	PROT:P05186	ALPL	A	443	V	A443V	Pathogenic/Likely pathogenic	1	5	8	283
MUT:ALPL:Ala446Thr	PROT:P05186	ALPL	A	446	T	A446T	Likely pathogenic	1	1	8	286
MUT:ALPL:Ala468Ser	PROT:P05186	ALPL	A	468	S	A468S	Likely pathogenic	1	1	8	308
MUT:ALPL:Ala468Thr	PROT:P05186	ALPL	A	468	T	A468T	Pathogenic/Likely pathogenic	1	2	8	308
MUT:ALPL:Ala468Val	PROT:P05186	ALPL	A	468	V	A468V	Pathogenic/Likely pathogenic	1	4	8	308
MUT:ALPL:Ala487Val	PROT:P05186	ALPL	A	487	V	A487V	Pathogenic/Likely pathogenic	1	4	8	327
MUT:ALPL:Ala51Val	PROT:P05186	ALPL	A	51	V	A51V	Pathogenic/Likely pathogenic	1	2	8	3
MUT:ALPL:Ala69Thr	PROT:P05186	ALPL	A	69	T	A69T	Likely pathogenic	1	1	8	1
MUT:ALPL:Arg136Cys	PROT:P05186	ALPL	R	136	C	R136C	Pathogenic/Likely pathogenic	1	5	8	5
MUT:ALPL:Arg136His	PROT:P05186	ALPL	R	136	H	R136H	Pathogenic/Likely pathogenic	1	8	8	5
MUT:ALPL:Arg136Leu	PROT:P05186	ALPL	R	136	L	R136L	Likely pathogenic	1	1	8	5
MUT:ALPL:Arg136Pro	PROT:P05186	ALPL	R	136	P	R136P	Likely pathogenic	1	2	8	5
MUT:ALPL:Arg138Pro	PROT:P05186	ALPL	R	138	P	R138P	Pathogenic/Likely pathogenic	1	2	8	7
MUT:ALPL:Arg152His	PROT:P05186	ALPL	R	152	H	R152H	Benign/Likely benign	0	5	8	7
MUT:ALPL:Arg184Gln	PROT:P05186	ALPL	R	184	Q	R184Q	Pathogenic	1	2	8	24
MUT:ALPL:Arg184Trp	PROT:P05186	ALPL	R	184	W	R184W	Pathogenic/Likely pathogenic	1	5	8	24
MUT:ALPL:Arg223Gln	PROT:P05186	ALPL	R	223	Q	R223Q	Pathogenic/Likely pathogenic	1	4	8	63
MUT:ALPL:Arg223Trp	PROT:P05186	ALPL	R	223	W	R223W	Pathogenic	1	3	8	63
MUT:ALPL:Arg246Ser	PROT:P05186	ALPL	R	246	S	R246S	Pathogenic/Likely pathogenic	1	1	8	86
MUT:ALPL:Arg272Cys	PROT:P05186	ALPL	R	272	C	R272C	Pathogenic	1	6	8	112
MUT:ALPL:Arg272His	PROT:P05186	ALPL	R	272	H	R272H	Pathogenic/Likely pathogenic	1	5	8	112
MUT:ALPL:Arg272Leu	PROT:P05186	ALPL	R	272	L	R272L	Pathogenic/Likely pathogenic	1	2	8	112
MUT:ALPL:Arg391Cys	PROT:P05186	ALPL	R	391	C	R391C	Pathogenic	1	5	8	231
MUT:ALPL:Arg391His	PROT:P05186	ALPL	R	391	H	R391H	Pathogenic	1	4	8	231
MUT:ALPL:Arg428Gln	PROT:P05186	ALPL	R	428	Q	R428Q	Pathogenic/Likely pathogenic	1	2	8	268
MUT:ALPL:Arg428Pro	PROT:P05186	ALPL	R	428	P	R428P	Pathogenic/Likely pathogenic	1	2	8	268
MUT:ALPL:Arg450Cys	PROT:P05186	ALPL	R	450	C	R450C	Pathogenic/Likely pathogenic	1	3	8	290
MUT:ALPL:Arg71Cys	PROT:P05186	ALPL	R	71	C	R71C	Pathogenic	1	4	8	3
MUT:ALPL:Arg71Gly	PROT:P05186	ALPL	R	71	G	R71G	Pathogenic/Likely pathogenic	1	1	8	3
MUT:ALPL:Arg71His	PROT:P05186	ALPL	R	71	H	R71H	Pathogenic	1	4	8	3
MUT:ALPL:Arg71Pro	PROT:P05186	ALPL	R	71	P	R71P	Pathogenic/Likely pathogenic	1	3	8	3
MUT:ALPL:Arg71Ser	PROT:P05186	ALPL	R	71	S	R71S	Pathogenic/Likely pathogenic	1	2	8	3
MUT:ALPL:Asn102Lys	PROT:P05186	ALPL	N	102	K	N102K	Likely pathogenic	1	1	8	8
MUT:ALPL:Asn102Thr	PROT:P05186	ALPL	N	102	T	N102T	Pathogenic/Likely pathogenic	1	1	8	8
MUT:ALPL:Asn170Asp	PROT:P05186	ALPL	N	170	D	N170D	Pathogenic/Likely pathogenic	1	2	8	10
MUT:ALPL:Asn393Ser	PROT:P05186	ALPL	N	393	S	N393S	Likely pathogenic	1	1	8	233
MUT:ALPL:Asn417Ser	PROT:P05186	ALPL	N	417	S	N417S	Pathogenic/Likely pathogenic	1	8	8	257
MUT:ALPL:Asn430Ser	PROT:P05186	ALPL	N	430	S	N430S	Pathogenic	1	1	8	270
MUT:ALPL:Asn478Ile	PROT:P05186	ALPL	N	478	I	N478I	Pathogenic	1	1	8	318
MUT:ALPL:Asn47His	PROT:P05186	ALPL	N	47	H	N47H	Likely pathogenic	1	1	8	1
MUT:ALPL:Asn493Lys	PROT:P05186	ALPL	N	493	K	N493K	Pathogenic/Likely pathogenic	1	2	8	333
MUT:ALPL:Asp109Glu	PROT:P05186	ALPL	D	109	E	D109E	Likely pathogenic	1	1	8	1
MUT:ALPL:Asp294Ala	PROT:P05186	ALPL	D	294	A	D294A	Pathogenic	1	6	8	134
MUT:ALPL:Asp294Asn	PROT:P05186	ALPL	D	294	N	D294N	Pathogenic	1	1	8	134
MUT:ALPL:Asp294Tyr	PROT:P05186	ALPL	D	294	Y	D294Y	Likely pathogenic	1	2	8	134
MUT:ALPL:Asp306Tyr	PROT:P05186	ALPL	D	306	Y	D306Y	Likely pathogenic	1	1	8	146
MUT:ALPL:Asp306Val	PROT:P05186	ALPL	D	306	V	D306V	Pathogenic	1	1	8	146
MUT:ALPL:Asp337Asn	PROT:P05186	ALPL	D	337	N	D337N	Likely pathogenic	1	1	8	177
MUT:ALPL:Asp337Gly	PROT:P05186	ALPL	D	337	G	D337G	Pathogenic/Likely pathogenic	1	4	8	177
MUT:ALPL:Asp378Gly	PROT:P05186	ALPL	D	378	G	D378G	Pathogenic/Likely pathogenic	1	1	8	218
MUT:ALPL:Asp378His	PROT:P05186	ALPL	D	378	H	D378H	Pathogenic/Likely pathogenic	1	3	8	218
MUT:ALPL:Asp378Tyr	PROT:P05186	ALPL	D	378	Y	D378Y	Pathogenic/Likely pathogenic	1	2	8	218
MUT:ALPL:Asp378Val	PROT:P05186	ALPL	D	378	V	D378V	Pathogenic	1	6	8	218
MUT:ALPL:Asp406Asn	PROT:P05186	ALPL	D	406	N	D406N	Likely pathogenic	1	1	8	246
MUT:ALPL:Asp406Gly	PROT:P05186	ALPL	D	406	G	D406G	Likely pathogenic	1	1	8	246
MUT:ALPL:Cys201Arg	PROT:P05186	ALPL	C	201	R	C201R	Likely pathogenic	1	1	8	41
MUT:ALPL:Cys489Phe	PROT:P05186	ALPL	C	489	F	C489F	Pathogenic	1	1	8	329
MUT:ALPL:Cys489Ser	PROT:P05186	ALPL	C	489	S	C489S	Pathogenic	1	2	8	329
MUT:ALPL:Cys497Arg	PROT:P05186	ALPL	C	497	R	C497R	Likely pathogenic	1	1	8	337
MUT:ALPL:Cys497Ser	PROT:P05186	ALPL	C	497	S	C497S	Likely pathogenic	1	1	8	337
MUT:ALPL:Cys497Tyr	PROT:P05186	ALPL	C	497	Y	C497Y	Likely pathogenic	1	1	8	337
MUT:ALPL:Gln106Arg	PROT:P05186	ALPL	Q	106	R	Q106R	Likely pathogenic	1	1	8	4
MUT:ALPL:Gln106His	PROT:P05186	ALPL	Q	106	H	Q106H	Pathogenic/Likely pathogenic	1	4	8	4
MUT:ALPL:Gln207Pro	PROT:P05186	ALPL	Q	207	P	Q207P	Pathogenic/Likely pathogenic	1	2	8	47
MUT:ALPL:Gln76Arg	PROT:P05186	ALPL	Q	76	R	Q76R	Pathogenic/Likely pathogenic	1	3	8	8
MUT:ALPL:Gln76His	PROT:P05186	ALPL	Q	76	H	Q76H	Likely pathogenic	1	1	8	8
MUT:ALPL:Glu191Gly	PROT:P05186	ALPL	E	191	G	E191G	Pathogenic/Likely pathogenic	1	1	8	31
MUT:ALPL:Glu235Asp	PROT:P05186	ALPL	E	235	D	E235D	Likely pathogenic	1	1	8	75
MUT:ALPL:Glu235Gly	PROT:P05186	ALPL	E	235	G	E235G	Likely pathogenic	1	1	8	75
MUT:ALPL:Glu235Val	PROT:P05186	ALPL	E	235	V	E235V	Likely pathogenic	1	1	8	75
MUT:ALPL:Glu291Gln	PROT:P05186	ALPL	E	291	Q	E291Q	Likely pathogenic	1	1	8	131
MUT:ALPL:Glu291Lys	PROT:P05186	ALPL	E	291	K	E291K	Pathogenic/Likely pathogenic	1	2	8	131
MUT:ALPL:Glu298Lys	PROT:P05186	ALPL	E	298	K	E298K	Pathogenic/Likely pathogenic	1	5	8	138
MUT:ALPL:Glu311Lys	PROT:P05186	ALPL	E	311	K	E311K	Pathogenic/Likely pathogenic	1	3	8	151
MUT:ALPL:Glu351Gly	PROT:P05186	ALPL	E	351	G	E351G	Likely pathogenic	1	1	8	191
MUT:ALPL:Glu429Asp	PROT:P05186	ALPL	E	429	D	E429D	Likely pathogenic	1	1	8	269
MUT:ALPL:Glu429Lys	PROT:P05186	ALPL	E	429	K	E429K	Pathogenic/Likely pathogenic	1	2	8	269
MUT:ALPL:Glu452Asp	PROT:P05186	ALPL	E	452	D	E452D	Likely pathogenic	1	1	8	292
MUT:ALPL:Glu452Lys	PROT:P05186	ALPL	E	452	K	E452K	Pathogenic/Likely pathogenic	1	2	8	292
MUT:ALPL:Glu476Ala	PROT:P05186	ALPL	E	476	A	E476A	Pathogenic/Likely pathogenic	1	2	8	316
MUT:ALPL:Glu476Gly	PROT:P05186	ALPL	E	476	G	E476G	Likely pathogenic	1	1	8	316
MUT:ALPL:Glu476Lys	PROT:P05186	ALPL	E	476	K	E476K	Pathogenic/Likely pathogenic	1	4	8	316
MUT:ALPL:Glu84Lys	PROT:P05186	ALPL	E	84	K	E84K	Pathogenic/Likely pathogenic	1	1	8	16
MUT:ALPL:Glu84Val	PROT:P05186	ALPL	E	84	V	E84V	Likely pathogenic	1	1	8	16
MUT:ALPL:Glu88Lys	PROT:P05186	ALPL	E	88	K	E88K	Pathogenic/Likely pathogenic	1	2	8	20
MUT:ALPL:Gly112Arg	PROT:P05186	ALPL	G	112	R	G112R	Likely pathogenic	1	1	8	1
MUT:ALPL:Gly112Ser	PROT:P05186	ALPL	G	112	S	G112S	Pathogenic/Likely pathogenic	1	3	8	1
MUT:ALPL:Gly129Glu	PROT:P05186	ALPL	G	129	E	G129E	Likely pathogenic	1	1	8	2
MUT:ALPL:Gly162Asp	PROT:P05186	ALPL	G	162	D	G162D	Likely pathogenic	1	2	8	2
MUT:ALPL:Gly162Ser	PROT:P05186	ALPL	G	162	S	G162S	Pathogenic/Likely pathogenic	1	2	8	2
MUT:ALPL:Gly162Val	PROT:P05186	ALPL	G	162	V	G162V	Pathogenic/Likely pathogenic	1	3	8	2
MUT:ALPL:Gly220Ala	PROT:P05186	ALPL	G	220	A	G220A	Pathogenic/Likely pathogenic	1	3	8	60
MUT:ALPL:Gly220Arg	PROT:P05186	ALPL	G	220	R	G220R	Pathogenic/Likely pathogenic	1	3	8	60
MUT:ALPL:Gly220Glu	PROT:P05186	ALPL	G	220	E	G220E	Likely pathogenic	1	2	8	60
MUT:ALPL:Gly220Val	PROT:P05186	ALPL	G	220	V	G220V	Pathogenic/Likely pathogenic	1	1	8	60
MUT:ALPL:Gly221Arg	PROT:P05186	ALPL	G	221	R	G221R	Pathogenic/Likely pathogenic	1	3	8	61
MUT:ALPL:Gly221Cys	PROT:P05186	ALPL	G	221	C	G221C	Likely pathogenic	1	1	8	61
MUT:ALPL:Gly221Val	PROT:P05186	ALPL	G	221	V	G221V	Likely pathogenic	1	1	8	61
MUT:ALPL:Gly249Val	PROT:P05186	ALPL	G	249	V	G249V	Pathogenic	1	6	8	89
MUT:ALPL:Gly288Ala	PROT:P05186	ALPL	G	288	A	G288A	Likely pathogenic	1	1	8	128
MUT:ALPL:Gly326Arg	PROT:P05186	ALPL	G	326	R	G326R	Pathogenic/Likely pathogenic	1	3	8	166
MUT:ALPL:Gly326Val	PROT:P05186	ALPL	G	326	V	G326V	Likely pathogenic	1	1	8	166
MUT:ALPL:Gly334Arg	PROT:P05186	ALPL	G	334	R	G334R	Likely pathogenic	1	1	8	174
MUT:ALPL:Gly334Asp	PROT:P05186	ALPL	G	334	D	G334D	Pathogenic/Likely pathogenic	1	5	8	174
MUT:ALPL:Gly334Ser	PROT:P05186	ALPL	G	334	S	G334S	Likely pathogenic	1	2	8	174
MUT:ALPL:Gly339Arg	PROT:P05186	ALPL	G	339	R	G339R	Pathogenic/Likely pathogenic	1	1	8	179
MUT:ALPL:Gly339Glu	PROT:P05186	ALPL	G	339	E	G339E	Pathogenic/Likely pathogenic	1	1	8	179
MUT:ALPL:Gly386Arg	PROT:P05186	ALPL	G	386	R	G386R	Likely pathogenic	1	1	8	226
MUT:ALPL:Gly386Asp	PROT:P05186	ALPL	G	386	D	G386D	Likely pathogenic	1	1	8	226
MUT:ALPL:Gly386Cys	PROT:P05186	ALPL	G	386	C	G386C	Likely pathogenic	1	1	8	226
MUT:ALPL:Gly397Val	PROT:P05186	ALPL	G	397	V	G397V	Likely pathogenic	1	1	8	237
MUT:ALPL:Gly416Val	PROT:P05186	ALPL	G	416	V	G416V	Likely pathogenic	1	1	8	256
MUT:ALPL:Gly420Ala	PROT:P05186	ALPL	G	420	A	G420A	Pathogenic/Likely pathogenic	1	1	8	260
MUT:ALPL:Gly420Asp	PROT:P05186	ALPL	G	420	D	G420D	Likely pathogenic	1	1	8	260
MUT:ALPL:Gly420Ser	PROT:P05186	ALPL	G	420	S	G420S	Pathogenic/Likely pathogenic	1	2	8	260
MUT:ALPL:Gly420Val	PROT:P05186	ALPL	G	420	V	G420V	Likely pathogenic	1	1	8	260
MUT:ALPL:Gly426Ala	PROT:P05186	ALPL	G	426	A	G426A	Pathogenic/Likely pathogenic	1	1	8	266
MUT:ALPL:Gly426Asp	PROT:P05186	ALPL	G	426	D	G426D	Pathogenic/Likely pathogenic	1	3	8	266
MUT:ALPL:Gly426Cys	PROT:P05186	ALPL	G	426	C	G426C	Likely pathogenic	1	1	8	266
MUT:ALPL:Gly426Ser	PROT:P05186	ALPL	G	426	S	G426S	Pathogenic/Likely pathogenic	1	2	8	266
MUT:ALPL:Gly455Asp	PROT:P05186	ALPL	G	455	D	G455D	Pathogenic/Likely pathogenic	1	2	8	295
MUT:ALPL:Gly455Ser	PROT:P05186	ALPL	G	455	S	G455S	Pathogenic/Likely pathogenic	1	4	8	295
MUT:ALPL:Gly456Arg	PROT:P05186	ALPL	G	456	R	G456R	Pathogenic/Likely pathogenic	1	3	8	296
MUT:ALPL:Gly456Glu	PROT:P05186	ALPL	G	456	E	G456E	Likely pathogenic	1	1	8	296
MUT:ALPL:Gly456Trp	PROT:P05186	ALPL	G	456	W	G456W	Likely pathogenic	1	1	8	296
MUT:ALPL:Gly473Asp	PROT:P05186	ALPL	G	473	D	G473D	Likely pathogenic	1	1	8	313
MUT:ALPL:Gly473Ser	PROT:P05186	ALPL	G	473	S	G473S	Pathogenic/Likely pathogenic	1	3	8	313
MUT:ALPL:Gly491Arg	PROT:P05186	ALPL	G	491	R	G491R	Pathogenic/Likely pathogenic	1	4	8	331
MUT:ALPL:Gly61Glu	PROT:P05186	ALPL	G	61	E	G61E	Likely pathogenic	1	1	8	7
MUT:ALPL:Gly63Arg	PROT:P05186	ALPL	G	63	R	G63R	Likely pathogenic	1	1	8	5
MUT:ALPL:Gly63Val	PROT:P05186	ALPL	G	63	V	G63V	Pathogenic/Likely pathogenic	1	1	8	5
MUT:ALPL:Gly75Asp	PROT:P05186	ALPL	G	75	D	G75D	Likely pathogenic	1	1	8	7
MUT:ALPL:Gly75Ser	PROT:P05186	ALPL	G	75	S	G75S	Pathogenic/Likely pathogenic	1	2	8	7
MUT:ALPL:Gly82Arg	PROT:P05186	ALPL	G	82	R	G82R	Pathogenic/Likely pathogenic	1	1	8	14
MUT:ALPL:His171Arg	PROT:P05186	ALPL	H	171	R	H171R	Pathogenic	1	2	8	11
MUT:ALPL:His171Asp	PROT:P05186	ALPL	H	171	D	H171D	Likely pathogenic	1	1	8	11
MUT:ALPL:His171Tyr	PROT:P05186	ALPL	H	171	Y	H171Y	Pathogenic	1	2	8	11
MUT:ALPL:His210Arg	PROT:P05186	ALPL	H	210	R	H210R	Likely pathogenic	1	2	8	50
MUT:ALPL:His340Pro	PROT:P05186	ALPL	H	340	P	H340P	Likely pathogenic	1	1	8	180
MUT:ALPL:His340Tyr	PROT:P05186	ALPL	H	340	Y	H340Y	Pathogenic/Likely pathogenic	1	1	8	180
MUT:ALPL:His341Arg	PROT:P05186	ALPL	H	341	R	H341R	Pathogenic/Likely pathogenic	1	1	8	181
MUT:ALPL:His341Gln	PROT:P05186	ALPL	H	341	Q	H341Q	Pathogenic	1	1	8	181
MUT:ALPL:His341Leu	PROT:P05186	ALPL	H	341	L	H341L	Likely pathogenic	1	1	8	181
MUT:ALPL:His379Asn	PROT:P05186	ALPL	H	379	N	H379N	Likely pathogenic	1	1	8	219
MUT:ALPL:His381Arg	PROT:P05186	ALPL	H	381	R	H381R	Pathogenic/Likely pathogenic	1	2	8	221
MUT:ALPL:His454Arg	PROT:P05186	ALPL	H	454	R	H454R	Pathogenic	1	1	8	294
MUT:ALPL:His472Arg	PROT:P05186	ALPL	H	472	R	H472R	Likely pathogenic	1	1	8	312
MUT:ALPL:His482Asn	PROT:P05186	ALPL	H	482	N	H482N	Pathogenic/Likely pathogenic	1	3	8	322
MUT:ALPL:Ile10Thr	PROT:P05186	ALPL	I	10	T	I10T	Likely pathogenic	1	1	8	38
MUT:ALPL:Ile212Phe	PROT:P05186	ALPL	I	212	F	I212F	Likely pathogenic	1	1	8	52
MUT:ALPL:Ile218Thr	PROT:P05186	ALPL	I	218	T	I218T	Pathogenic/Likely pathogenic	1	1	8	58
MUT:ALPL:Ile359Met	PROT:P05186	ALPL	I	359	M	I359M	Pathogenic/Likely pathogenic	1	2	8	199
MUT:ALPL:Ile395Thr	PROT:P05186	ALPL	I	395	T	I395T	Pathogenic/Likely pathogenic	1	1	8	235
MUT:ALPL:Ile395Val	PROT:P05186	ALPL	I	395	V	I395V	Pathogenic/Likely pathogenic	1	2	8	235
MUT:ALPL:Ile490Phe	PROT:P05186	ALPL	I	490	F	I490F	Likely pathogenic	1	1	8	330
MUT:ALPL:Ile55Asn	PROT:P05186	ALPL	I	55	N	I55N	Likely pathogenic	1	1	8	7
MUT:ALPL:Ile72Thr	PROT:P05186	ALPL	I	72	T	I72T	Pathogenic/Likely pathogenic	1	4	8	4
MUT:ALPL:Ile72Val	PROT:P05186	ALPL	I	72	V	I72V	Pathogenic/Likely pathogenic	1	2	8	4
MUT:ALPL:Leu208Phe	PROT:P05186	ALPL	L	208	F	L208F	Likely pathogenic	1	1	8	48
MUT:ALPL:Leu275Pro	PROT:P05186	ALPL	L	275	P	L275P	Pathogenic/Likely pathogenic	1	2	8	115
MUT:ALPL:Leu289Phe	PROT:P05186	ALPL	L	289	F	L289F	Likely pathogenic	1	1	8	129
MUT:ALPL:Leu299Pro	PROT:P05186	ALPL	L	299	P	L299P	Pathogenic	1	2	8	139
MUT:ALPL:Leu37Pro	PROT:P05186	ALPL	L	37	P	L37P	Pathogenic/Likely pathogenic	1	3	8	11
MUT:ALPL:Leu414Met	PROT:P05186	ALPL	L	414	M	L414M	Pathogenic/Likely pathogenic	1	3	8	254
MUT:ALPL:Leu414Val	PROT:P05186	ALPL	L	414	V	L414V	Likely pathogenic	1	1	8	254
MUT:ALPL:Leu58Pro	PROT:P05186	ALPL	L	58	P	L58P	Likely pathogenic	1	1	8	10
MUT:ALPL:Lys224Glu	PROT:P05186	ALPL	K	224	E	K224E	Pathogenic/Likely pathogenic	1	2	8	64
MUT:ALPL:Lys264Arg	PROT:P05186	ALPL	K	264	R	K264R	Pathogenic/Likely pathogenic	1	3	8	104
MUT:ALPL:Met192Thr	PROT:P05186	ALPL	M	192	T	M192T	Pathogenic/Likely pathogenic	1	5	8	32
MUT:ALPL:Met1Ile	PROT:P05186	ALPL	M	1	I	M1I	Pathogenic	1	1	8	47
MUT:ALPL:Met1Thr	PROT:P05186	ALPL	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	8	47
MUT:ALPL:Met219Ile	PROT:P05186	ALPL	M	219	I	M219I	Pathogenic/Likely pathogenic	1	2	8	59
MUT:ALPL:Met219Val	PROT:P05186	ALPL	M	219	V	M219V	Pathogenic/Likely pathogenic	1	2	8	59
MUT:ALPL:Met226Ile	PROT:P05186	ALPL	M	226	I	M226I	Likely pathogenic	1	1	8	66
MUT:ALPL:Met295Ile	PROT:P05186	ALPL	M	295	I	M295I	Likely pathogenic	1	1	8	135
MUT:ALPL:Met295Val	PROT:P05186	ALPL	M	295	V	M295V	Likely pathogenic	1	1	8	135
MUT:ALPL:Met467Thr	PROT:P05186	ALPL	M	467	T	M467T	Likely pathogenic	1	2	8	307
MUT:ALPL:Met62Ile	PROT:P05186	ALPL	M	62	I	M62I	Pathogenic	1	1	8	6
MUT:ALPL:Met62Val	PROT:P05186	ALPL	M	62	V	M62V	Likely pathogenic	1	1	8	6
MUT:ALPL:Phe268Leu	PROT:P05186	ALPL	F	268	L	F268L	Likely pathogenic	1	1	8	108
MUT:ALPL:Phe290Leu	PROT:P05186	ALPL	F	290	L	F290L	Likely pathogenic	1	1	8	130
MUT:ALPL:Phe327Cys	PROT:P05186	ALPL	F	327	C	F327C	Pathogenic/Likely pathogenic	1	3	8	167
MUT:ALPL:Phe327Leu	PROT:P05186	ALPL	F	327	L	F327L	Pathogenic/Likely pathogenic	1	4	8	167
MUT:ALPL:Phe396Ser	PROT:P05186	ALPL	F	396	S	F396S	Likely pathogenic	1	1	8	236
MUT:ALPL:Phe410Leu	PROT:P05186	ALPL	F	410	L	F410L	Pathogenic/Likely pathogenic	1	1	8	250
MUT:ALPL:Pro108Leu	PROT:P05186	ALPL	P	108	L	P108L	Pathogenic	1	2	8	2
MUT:ALPL:Pro292Leu	PROT:P05186	ALPL	P	292	L	P292L	Likely pathogenic	1	1	8	132
MUT:ALPL:Pro292Ser	PROT:P05186	ALPL	P	292	S	P292S	Pathogenic/Likely pathogenic	1	1	8	132
MUT:ALPL:Pro292Thr	PROT:P05186	ALPL	P	292	T	P292T	Pathogenic/Likely pathogenic	1	2	8	132
MUT:ALPL:Pro307Ser	PROT:P05186	ALPL	P	307	S	P307S	Likely pathogenic	1	1	8	147
MUT:ALPL:Pro466Leu	PROT:P05186	ALPL	P	466	L	P466L	Pathogenic	1	1	8	306
MUT:ALPL:Pro93Leu	PROT:P05186	ALPL	P	93	L	P93L	Likely pathogenic	1	1	8	17
MUT:ALPL:Pro93Ser	PROT:P05186	ALPL	P	93	S	P93S	Likely pathogenic	1	1	8	17
MUT:ALPL:Ser17Phe	PROT:P05186	ALPL	S	17	F	S17F	Pathogenic/Likely pathogenic	1	1	8	31
MUT:ALPL:Ser181Leu	PROT:P05186	ALPL	S	181	L	S181L	Pathogenic/Likely pathogenic	1	5	8	21
MUT:ALPL:Ser181Trp	PROT:P05186	ALPL	S	181	W	S181W	Likely pathogenic	1	1	8	21
MUT:ALPL:Ser188Pro	PROT:P05186	ALPL	S	188	P	S188P	Pathogenic	1	1	8	28
MUT:ALPL:Ser445Cys	PROT:P05186	ALPL	S	445	C	S445C	Likely pathogenic	1	1	8	285
MUT:ALPL:Ser445Pro	PROT:P05186	ALPL	S	445	P	S445P	Pathogenic	1	3	8	285
MUT:ALPL:Thr100Met	PROT:P05186	ALPL	T	100	M	T100M	Pathogenic/Likely pathogenic	1	3	8	10
MUT:ALPL:Thr115Ile	PROT:P05186	ALPL	T	115	I	T115I	Pathogenic/Likely pathogenic	1	1	8	2
MUT:ALPL:Thr134Asn	PROT:P05186	ALPL	T	134	N	T134N	Likely pathogenic	1	1	8	3
MUT:ALPL:Thr134His	PROT:P05186	ALPL	T	134	H	T134H	Pathogenic/Likely pathogenic	1	4	8	3
MUT:ALPL:Thr141Asn	PROT:P05186	ALPL	T	141	N	T141N	Pathogenic/Likely pathogenic	1	3	8	10
MUT:ALPL:Thr141Ile	PROT:P05186	ALPL	T	141	I	T141I	Likely pathogenic	1	1	8	10
MUT:ALPL:Thr148Ala	PROT:P05186	ALPL	T	148	A	T148A	Likely pathogenic	1	1	8	11
MUT:ALPL:Thr148Ile	PROT:P05186	ALPL	T	148	I	T148I	Pathogenic/Likely pathogenic	1	1	8	11
MUT:ALPL:Thr15Ser	PROT:P05186	ALPL	T	15	S	T15S	Likely benign	0	2	8	33
MUT:ALPL:Thr166Ile	PROT:P05186	ALPL	T	166	I	T166I	Pathogenic/Likely pathogenic	1	2	8	6
MUT:ALPL:Thr167Lys	PROT:P05186	ALPL	T	167	K	T167K	Likely pathogenic	1	1	8	7
MUT:ALPL:Thr167Met	PROT:P05186	ALPL	T	167	M	T167M	Pathogenic/Likely pathogenic	1	4	8	7
MUT:ALPL:Thr173Ile	PROT:P05186	ALPL	T	173	I	T173I	Pathogenic/Likely pathogenic	1	1	8	13
MUT:ALPL:Thr371Asn	PROT:P05186	ALPL	T	371	N	T371N	Likely pathogenic	1	1	8	211
MUT:ALPL:Thr371Ile	PROT:P05186	ALPL	T	371	I	T371I	Pathogenic/Likely pathogenic	1	1	8	211
MUT:ALPL:Thr384Lys	PROT:P05186	ALPL	T	384	K	T384K	Likely pathogenic	1	1	8	224
MUT:ALPL:Thr384Pro	PROT:P05186	ALPL	T	384	P	T384P	Likely pathogenic	1	1	8	224
MUT:ALPL:Thr389Ala	PROT:P05186	ALPL	T	389	A	T389A	Pathogenic/Likely pathogenic	1	1	8	229
MUT:ALPL:Thr389Asn	PROT:P05186	ALPL	T	389	N	T389N	Pathogenic/Likely pathogenic	1	2	8	229
MUT:ALPL:Thr411Ala	PROT:P05186	ALPL	T	411	A	T411A	Pathogenic	1	1	8	251
MUT:ALPL:Thr68Met	PROT:P05186	ALPL	T	68	M	T68M	Pathogenic/Likely pathogenic	1	2	8	0
MUT:ALPL:Thr85Pro	PROT:P05186	ALPL	T	85	P	T85P	Likely pathogenic	1	1	8	17
MUT:ALPL:Trp29Arg	PROT:P05186	ALPL	W	29	R	W29R	Pathogenic	1	1	8	19
MUT:ALPL:Tyr101Asp	PROT:P05186	ALPL	Y	101	D	Y101D	Likely pathogenic	1	1	8	9
MUT:ALPL:Tyr101Cys	PROT:P05186	ALPL	Y	101	C	Y101C	Pathogenic/Likely pathogenic	1	1	8	9
MUT:ALPL:Tyr178Cys	PROT:P05186	ALPL	Y	178	C	Y178C	Pathogenic	1	1	8	18
MUT:ALPL:Tyr178His	PROT:P05186	ALPL	Y	178	H	Y178H	Pathogenic/Likely pathogenic	1	4	8	18
MUT:ALPL:Tyr206Cys	PROT:P05186	ALPL	Y	206	C	Y206C	Likely pathogenic	1	1	8	46
MUT:ALPL:Tyr236Cys	PROT:P05186	ALPL	Y	236	C	Y236C	Pathogenic/Likely pathogenic	1	2	8	76
MUT:ALPL:Tyr263His	PROT:P05186	ALPL	Y	263	H	Y263H	Benign	0	5	8	103
MUT:ALPL:Tyr28Asp	PROT:P05186	ALPL	Y	28	D	Y28D	Pathogenic/Likely pathogenic	1	1	8	20
MUT:ALPL:Tyr28Cys	PROT:P05186	ALPL	Y	28	C	Y28C	Pathogenic	1	1	8	20
MUT:ALPL:Tyr297Asn	PROT:P05186	ALPL	Y	297	N	Y297N	Likely pathogenic	1	1	8	137
MUT:ALPL:Tyr297Asp	PROT:P05186	ALPL	Y	297	D	Y297D	Likely pathogenic	1	1	8	137
MUT:ALPL:Tyr297His	PROT:P05186	ALPL	Y	297	H	Y297H	Likely pathogenic	1	1	8	137
MUT:ALPL:Tyr388Cys	PROT:P05186	ALPL	Y	388	C	Y388C	Likely pathogenic	1	1	8	228
MUT:ALPL:Tyr388His	PROT:P05186	ALPL	Y	388	H	Y388H	Pathogenic/Likely pathogenic	1	2	8	228
MUT:ALPL:Tyr436Cys	PROT:P05186	ALPL	Y	436	C	Y436C	Likely pathogenic	1	1	8	276
MUT:ALPL:Val107Ile	PROT:P05186	ALPL	V	107	I	V107I	Likely pathogenic	1	1	8	3
MUT:ALPL:Val121Met	PROT:P05186	ALPL	V	121	M	V121M	Pathogenic/Likely pathogenic	1	1	8	4
MUT:ALPL:Val128Met	PROT:P05186	ALPL	V	128	M	V128M	Pathogenic/Likely pathogenic	1	2	8	3
MUT:ALPL:Val374Met	PROT:P05186	ALPL	V	374	M	V374M	Pathogenic/Likely pathogenic	1	3	8	214
MUT:ALPL:Val382Ile	PROT:P05186	ALPL	V	382	I	V382I	Pathogenic/Likely pathogenic	1	2	8	222
MUT:ALPL:Val423Ala	PROT:P05186	ALPL	V	423	A	V423A	Pathogenic/Likely pathogenic	1	2	8	263
MUT:ALPL:Val447Leu	PROT:P05186	ALPL	V	447	L	V447L	Likely pathogenic	1	1	8	287
MUT:ALPL:Val459Ala	PROT:P05186	ALPL	V	459	A	V459A	Likely pathogenic	1	1	8	299
MUT:ALPL:Val459Leu	PROT:P05186	ALPL	V	459	L	V459L	Pathogenic/Likely pathogenic	1	3	8	299
MUT:ALPL:Val459Met	PROT:P05186	ALPL	V	459	M	V459M	Pathogenic/Likely pathogenic	1	3	8	299
MUT:ALPL:Val461Ile	PROT:P05186	ALPL	V	461	I	V461I	Benign/Likely benign	0	3	8	301
MUT:ALPL:Val522Ala	PROT:P05186	ALPL	V	522	A	V522A	Benign	0	4	8	362
MUT:ALS2:Ala573Glu	PROT:Q96Q42	ALS2	A	573	E	A573E	Likely pathogenic	1	2	20	40
MUT:ALS2:Arg1302His	PROT:Q96Q42	ALS2	R	1302	H	R1302H	Likely benign	0	3	20	33
MUT:ALS2:Cys157Tyr	PROT:Q96Q42	ALS2	C	157	Y	C157Y	Likely pathogenic	1	1	20	116
MUT:ALS2:Glu1173Lys	PROT:Q96Q42	ALS2	E	1173	K	E1173K	Benign/Likely benign	0	3	20	162
MUT:ALS2:Glu1557Gly	PROT:Q96Q42	ALS2	E	1557	G	E1557G	Likely pathogenic	1	1	20	93
MUT:ALS2:Glu159Lys	PROT:Q96Q42	ALS2	E	159	K	E159K	Benign/Likely benign	0	4	20	118
MUT:ALS2:Glu784Lys	PROT:Q96Q42	ALS2	E	784	K	E784K	Likely benign	0	1	20	65
MUT:ALS2:Gly1074Asp	PROT:Q96Q42	ALS2	G	1074	D	G1074D	Pathogenic	1	1	20	225
MUT:ALS2:Gly116Glu	PROT:Q96Q42	ALS2	G	116	E	G116E	Pathogenic	1	1	20	75
MUT:ALS2:Gly364Asp	PROT:Q96Q42	ALS2	G	364	D	G364D	Likely benign	0	1	20	3
MUT:ALS2:Gly49Arg	PROT:Q96Q42	ALS2	G	49	R	G49R	Pathogenic	1	1	20	8
MUT:ALS2:Gly540Glu	PROT:Q96Q42	ALS2	G	540	E	G540E	Pathogenic	1	1	20	7
MUT:ALS2:Ile1373Met	PROT:Q96Q42	ALS2	I	1373	M	I1373M	Benign/Likely benign	0	4	20	24
MUT:ALS2:Ile832Leu	PROT:Q96Q42	ALS2	I	832	L	I832L	Likely benign	0	1	20	17
MUT:ALS2:Ile94Val	PROT:Q96Q42	ALS2	I	94	V	I94V	Benign	0	4	20	53
MUT:ALS2:Leu1054Pro	PROT:Q96Q42	ALS2	L	1054	P	L1054P	Likely pathogenic	1	1	20	205
MUT:ALS2:Leu48Val	PROT:Q96Q42	ALS2	L	48	V	L48V	Likely pathogenic	1	1	20	7
MUT:ALS2:Met318Val	PROT:Q96Q42	ALS2	M	318	V	M318V	Likely benign	0	1	20	35
MUT:ALS2:Pro1603Leu	PROT:Q96Q42	ALS2	P	1603	L	P1603L	Likely pathogenic	1	1	20	139
MUT:ALS2:Pro550Leu	PROT:Q96Q42	ALS2	P	550	L	P550L	Likely pathogenic	1	1	20	17
MUT:ALS2:Thr1144Met	PROT:Q96Q42	ALS2	T	1144	M	T1144M	Likely benign	0	1	20	191
MUT:ALS2:Val1156Leu	PROT:Q96Q42	ALS2	V	1156	L	V1156L	Likely benign	0	1	20	179
MUT:ALS2:Val368Met	PROT:Q96Q42	ALS2	V	368	M	V368M	Benign	0	4	20	7
MUT:ALX3:Arg196Trp	PROT:O95076	ALX3	R	196	W	R196W	Pathogenic	1	1	1	15
MUT:ALX3:Asn203Ser	PROT:O95076	ALX3	N	203	S	N203S	Pathogenic	1	1	1	22
MUT:ALX3:Leu168Val	PROT:O95076	ALX3	L	168	V	L168V	Pathogenic	1	1	1	13
MUT:ALX4:Arg216Gly	PROT:Q9H161	ALX4	R	216	G	R216G	Pathogenic	1	1	2	16
MUT:ALX4:Arg218Gln	PROT:Q9H161	ALX4	R	218	Q	R218Q	Pathogenic	1	1	2	18
MUT:ALX4:Arg272Pro	PROT:Q9H161	ALX4	R	272	P	R272P	Pathogenic	1	1	2	72
MUT:ALX4:Arg35Thr	PROT:Q9H161	ALX4	R	35	T	R35T	Benign	0	2	2	96
MUT:ALX4:Gln225Glu	PROT:Q9H161	ALX4	Q	225	E	Q225E	Pathogenic	1	1	2	25
MUT:ALX4:Gln98Pro	PROT:Q9H161	ALX4	Q	98	P	Q98P	Likely benign	0	1	2	33
MUT:ALX4:Glu158Asp	PROT:Q9H161	ALX4	E	158	D	E158D	Benign/Likely benign	0	1	2	27
MUT:ALX4:Gly369Glu	PROT:Q9H161	ALX4	G	369	E	G369E	Benign/Likely benign	0	2	2	169
MUT:ALX4:Pro102Ser	PROT:Q9H161	ALX4	P	102	S	P102S	Benign	0	2	2	29
MUT:ALX4:Pro76Thr	PROT:Q9H161	ALX4	P	76	T	P76T	Benign	0	2	2	55
MUT:ALX4:Thr362Met	PROT:Q9H161	ALX4	T	362	M	T362M	Benign	0	1	2	162
MUT:AMDHD2:Ala95Thr	PROT:Q9Y303	AMDHD2	A	95	T	A95T	Likely pathogenic	1	1	3	25
MUT:AMER1:Ala1114Thr	PROT:Q5JTC6	AMER1	A	1114	T	A1114T	Likely benign	0	1	14	219
MUT:AMER1:Ala345Val	PROT:Q5JTC6	AMER1	A	345	V	A345V	Benign	0	1	14	27
MUT:AMER1:Ala603Ser	PROT:Q5JTC6	AMER1	A	603	S	A603S	Likely benign	0	1	14	12
MUT:AMER1:Arg418Gln	PROT:Q5JTC6	AMER1	R	418	Q	R418Q	Likely benign	0	1	14	100
MUT:AMER1:Arg491His	PROT:Q5JTC6	AMER1	R	491	H	R491H	Benign/Likely benign	0	1	14	124
MUT:AMER1:Arg492Met	PROT:Q5JTC6	AMER1	R	492	M	R492M	Likely benign	0	1	14	123
MUT:AMER1:Arg601Gln	PROT:Q5JTC6	AMER1	R	601	Q	R601Q	Benign/Likely benign	0	1	14	14
MUT:AMER1:Arg699His	PROT:Q5JTC6	AMER1	R	699	H	R699H	Benign	0	1	14	50
MUT:AMER1:Arg894His	PROT:Q5JTC6	AMER1	R	894	H	R894H	Likely benign	0	1	14	1
MUT:AMER1:Arg942Gln	PROT:Q5JTC6	AMER1	R	942	Q	R942Q	Benign/Likely benign	0	1	14	47
MUT:AMER1:Asn890Lys	PROT:Q5JTC6	AMER1	N	890	K	N890K	Likely benign	0	1	14	5
MUT:AMER1:Asp233Tyr	PROT:Q5JTC6	AMER1	D	233	Y	D233Y	Benign	0	1	14	7
MUT:AMER1:Gln1019Arg	PROT:Q5JTC6	AMER1	Q	1019	R	Q1019R	Benign/Likely benign	0	1	14	124
MUT:AMER1:Glu297Gly	PROT:Q5JTC6	AMER1	E	297	G	E297G	Likely benign	0	1	14	11
MUT:AMER1:Glu2Lys	PROT:Q5JTC6	AMER1	E	2	K	E2K	Likely benign	0	1	14	1
MUT:AMER1:His134Pro	PROT:Q5JTC6	AMER1	H	134	P	H134P	Benign/Likely benign	0	2	14	27
MUT:AMER1:Leu448Pro	PROT:Q5JTC6	AMER1	L	448	P	L448P	Benign/Likely benign	0	1	14	130
MUT:AMER1:Met535Lys	PROT:Q5JTC6	AMER1	M	535	K	M535K	Likely benign	0	1	14	80
MUT:AMER1:Met719Ile	PROT:Q5JTC6	AMER1	M	719	I	M719I	Benign/Likely benign	0	1	14	30
MUT:AMER1:Met999Val	PROT:Q5JTC6	AMER1	M	999	V	M999V	Benign/Likely benign	0	2	14	104
MUT:AMER1:Pro121Thr	PROT:Q5JTC6	AMER1	P	121	T	P121T	Likely benign	0	1	14	40
MUT:AMER1:Pro248Thr	PROT:Q5JTC6	AMER1	P	248	T	P248T	Benign/Likely benign	0	2	14	2
MUT:AMER1:Pro750Ser	PROT:Q5JTC6	AMER1	P	750	S	P750S	Benign	0	1	14	1
MUT:AMER1:Pro963Ser	PROT:Q5JTC6	AMER1	P	963	S	P963S	Likely benign	0	1	14	68
MUT:AMER1:Ser787Phe	PROT:Q5JTC6	AMER1	S	787	F	S787F	Likely benign	0	1	14	38
MUT:AMER1:Thr20Ile	PROT:Q5JTC6	AMER1	T	20	I	T20I	Benign/Likely benign	0	1	14	19
MUT:AMER1:Trp958Cys	PROT:Q5JTC6	AMER1	W	958	C	W958C	Likely benign	0	1	14	63
MUT:AMER1:Tyr599Cys	PROT:Q5JTC6	AMER1	Y	599	C	Y599C	Benign/Likely benign	0	3	14	16
MUT:AMER1:Tyr846Cys	PROT:Q5JTC6	AMER1	Y	846	C	Y846C	Likely benign	0	1	14	22
MUT:AMER1:Val397Phe	PROT:Q5JTC6	AMER1	V	397	F	V397F	Likely benign	0	1	14	79
MUT:AMH:Arg117Gln	PROT:P03971	AMH	R	117	Q	R117Q	Benign/Likely benign	0	1	5	73
MUT:AMH:Arg465Cys	PROT:P03971	AMH	R	465	C	R465C	Likely pathogenic	1	1	5	270
MUT:AMH:Arg95Gln	PROT:P03971	AMH	R	95	Q	R95Q	Likely benign	0	1	5	81
MUT:AMH:Asn104Thr	PROT:P03971	AMH	N	104	T	N104T	Likely benign	0	1	5	86
MUT:AMH:Cys188Tyr	PROT:P03971	AMH	C	188	Y	C188Y	Pathogenic	1	1	5	2
MUT:AMH:Gln325Arg	PROT:P03971	AMH	Q	325	R	Q325R	Benign/Likely benign	0	1	5	130
MUT:AMH:Gly101Arg	PROT:P03971	AMH	G	101	R	G101R	Likely pathogenic	1	2	5	87
MUT:AMH:Gly157Asp	PROT:P03971	AMH	G	157	D	G157D	Likely benign	0	1	5	33
MUT:AMH:Leu339Pro	PROT:P03971	AMH	L	339	P	L339P	Likely pathogenic	1	1	5	144
MUT:AMH:Pro151Ser	PROT:P03971	AMH	P	151	S	P151S	Pathogenic	1	1	5	39
MUT:AMH:Pro270Ser	PROT:P03971	AMH	P	270	S	P270S	Benign/Likely benign	0	1	5	75
MUT:AMH:Ser331Leu	PROT:P03971	AMH	S	331	L	S331L	Likely pathogenic	1	1	5	136
MUT:AMH:Ser49Ile	PROT:P03971	AMH	S	49	I	S49I	Benign	0	1	5	35
MUT:AMH:Thr105Pro	PROT:P03971	AMH	T	105	P	T105P	Likely benign	0	1	5	85
MUT:AMH:Val102Ile	PROT:P03971	AMH	V	102	I	V102I	Benign	0	1	5	88
MUT:AMH:Val477Ala	PROT:P03971	AMH	V	477	A	V477A	Likely pathogenic	1	1	5	282
MUT:AMHR2:Ala474Thr	PROT:Q16671	AMHR2	A	474	T	A474T	Likely benign	0	1	1	238
MUT:AMHR2:Arg172Gln	PROT:Q16671	AMHR2	R	172	Q	R172Q	Likely pathogenic	1	1	1	64
MUT:AMHR2:Arg406Gln	PROT:Q16671	AMHR2	R	406	Q	R406Q	Likely pathogenic	1	1	1	170
MUT:AMHR2:Arg463Cys	PROT:Q16671	AMHR2	R	463	C	R463C	Pathogenic/Likely pathogenic	1	2	1	227
MUT:AMHR2:Arg471Cys	PROT:Q16671	AMHR2	R	471	C	R471C	Likely benign	0	1	1	235
MUT:AMHR2:Arg471His	PROT:Q16671	AMHR2	R	471	H	R471H	Pathogenic/Likely pathogenic	1	1	1	235
MUT:AMHR2:Arg504Cys	PROT:Q16671	AMHR2	R	504	C	R504C	Pathogenic	1	1	1	268
MUT:AMHR2:Arg54Cys	PROT:Q16671	AMHR2	R	54	C	R54C	Likely pathogenic	1	1	1	182
MUT:AMHR2:Arg71Gln	PROT:Q16671	AMHR2	R	71	Q	R71Q	Likely benign	0	1	1	165
MUT:AMHR2:Asn119Asp	PROT:Q16671	AMHR2	N	119	D	N119D	Likely pathogenic	1	1	1	117
MUT:AMHR2:Pro19Ala	PROT:Q16671	AMHR2	P	19	A	P19A	Likely pathogenic	1	1	1	217
MUT:AMHR2:Thr447Ile	PROT:Q16671	AMHR2	T	447	I	T447I	Pathogenic	1	1	1	211
MUT:AMMECR1:Gly177Asp	PROT:Q9Y4X0	AMMECR1	G	177	D	G177D	Pathogenic	1	1	7	21
MUT:AMMECR1:Pro119Arg	PROT:Q9Y4X0	AMMECR1	P	119	R	P119R	Likely benign	0	1	7	79
MUT:AMMECR1:Val217Met	PROT:Q9Y4X0	AMMECR1	V	217	M	V217M	Likely pathogenic	1	1	7	19
MUT:AMOT:Gln642His	PROT:Q4VCS5	AMOT	Q	642	H	Q642H	Likely pathogenic	1	1	24	38
MUT:AMOTL1:Arg157Cys	PROT:Q8IY63	AMOTL1	R	157	C	R157C	Pathogenic	1	1	36	17
MUT:AMOTL1:Arg157His	PROT:Q8IY63	AMOTL1	R	157	H	R157H	Pathogenic/Likely pathogenic	1	2	36	17
MUT:AMOTL1:Asn143Ser	PROT:Q8IY63	AMOTL1	N	143	S	N143S	Pathogenic	1	1	36	31
MUT:AMOTL1:Glu159Gln	PROT:Q8IY63	AMOTL1	E	159	Q	E159Q	Likely pathogenic	1	1	36	15
MUT:AMOTL1:Glu579Lys	PROT:Q8IY63	AMOTL1	E	579	K	E579K	Pathogenic	1	1	36	28
MUT:AMPD1:Arg717Lys	PROT:P23109	AMPD1	R	717	K	R717K	Likely benign	0	1	6	91
MUT:AMPD1:Arg75His	PROT:P23109	AMPD1	R	75	H	R75H	Benign/Likely benign	0	2	6	39
MUT:AMPD3:Arg185Trp	PROT:Q01432	AMPD3	R	185	W	R185W	Benign/Likely benign	0	1	23	15
MUT:AMPD3:Arg573Cys	PROT:Q01432	AMPD3	R	573	C	R573C	Pathogenic	1	2	23	138
MUT:AMPD3:Gly361Ser	PROT:Q01432	AMPD3	G	361	S	G361S	Benign/Likely benign	0	1	23	13
MUT:AMPD3:Tyr455His	PROT:Q01432	AMPD3	Y	455	H	Y455H	Benign/Likely benign	0	1	23	23
MUT:ANK1:Ala1367Thr	PROT:P16157	ANK1	A	1367	T	A1367T	Likely benign	0	1	32	11
MUT:ANK1:Ala1462Val	PROT:P16157	ANK1	A	1462	V	A1462V	Benign/Likely benign	0	14	32	6
MUT:ANK1:Ala829Pro	PROT:P16157	ANK1	A	829	P	A829P	Likely benign	0	1	32	3
MUT:ANK1:Arg619His	PROT:P16157	ANK1	R	619	H	R619H	Benign/Likely benign	0	2	32	22
MUT:ANK1:Asn218Lys	PROT:P16157	ANK1	N	218	K	N218K	Benign/Likely benign	0	2	32	2
MUT:ANK1:Asp766Asn	PROT:P16157	ANK1	D	766	N	D766N	Likely benign	0	1	32	7
MUT:ANK1:Gln879His	PROT:P16157	ANK1	Q	879	H	Q879H	Likely pathogenic	1	1	32	5
MUT:ANK1:Gly1745Ser	PROT:P16157	ANK1	G	1745	S	G1745S	Likely benign	0	1	32	5
MUT:ANK1:Ile749Val	PROT:P16157	ANK1	I	749	V	I749V	Likely benign	0	1	32	10
MUT:ANK1:Ile825Val	PROT:P16157	ANK1	I	825	V	I825V	Likely benign	0	1	32	1
MUT:ANK1:Lys1368Asn	PROT:P16157	ANK1	K	1368	N	K1368N	Likely pathogenic	1	1	32	10
MUT:ANK1:Lys1752Asn	PROT:P16157	ANK1	K	1752	N	K1752N	Likely benign	0	1	32	2
MUT:ANK1:Met1325Val	PROT:P16157	ANK1	M	1325	V	M1325V	Benign	0	2	32	53
MUT:ANK1:Pro114Leu	PROT:P16157	ANK1	P	114	L	P114L	Likely pathogenic	1	1	32	99
MUT:ANK1:Ser1771Pro	PROT:P16157	ANK1	S	1771	P	S1771P	Likely benign	0	1	32	21
MUT:ANK1:Thr1057Asn	PROT:P16157	ANK1	T	1057	N	T1057N	Likely pathogenic	1	1	32	25
MUT:ANK1:Thr1075Ile	PROT:P16157	ANK1	T	1075	I	T1075I	Benign/Likely benign	0	1	32	7
MUT:ANK1:Trp1017Ser	PROT:P16157	ANK1	W	1017	S	W1017S	Likely pathogenic	1	1	32	56
MUT:ANK1:Trp1185Arg	PROT:P16157	ANK1	W	1185	R	W1185R	Likely pathogenic	1	1	32	103
MUT:ANK1:Val1007Met	PROT:P16157	ANK1	V	1007	M	V1007M	Likely benign	0	1	32	46
MUT:ANKFY1:Ala614Thr	PROT:Q9P2R3	ANKFY1	A	614	T	A614T	Benign	0	1	8	64
MUT:ANKFY1:Arg677Gln	PROT:Q9P2R3	ANKFY1	R	677	Q	R677Q	Likely benign	0	1	8	1
MUT:ANKFY1:Ile375Val	PROT:Q9P2R3	ANKFY1	I	375	V	I375V	Likely benign	0	1	8	54
MUT:ANKRD11:Ala1193Val	PROT:Q6UB99	ANKRD11	A	1193	V	A1193V	Benign/Likely benign	0	1	49	73
MUT:ANKRD11:Ala1224Thr	PROT:Q6UB99	ANKRD11	A	1224	T	A1224T	Likely benign	0	1	49	104
MUT:ANKRD11:Ala1248Val	PROT:Q6UB99	ANKRD11	A	1248	V	A1248V	Likely benign	0	2	49	128
MUT:ANKRD11:Ala125Thr	PROT:Q6UB99	ANKRD11	A	125	T	A125T	Likely pathogenic	1	1	49	25
MUT:ANKRD11:Ala1276Thr	PROT:Q6UB99	ANKRD11	A	1276	T	A1276T	Benign/Likely benign	0	2	49	143
MUT:ANKRD11:Ala1481Val	PROT:Q6UB99	ANKRD11	A	1481	V	A1481V	Benign/Likely benign	0	2	49	28
MUT:ANKRD11:Ala1639Gly	PROT:Q6UB99	ANKRD11	A	1639	G	A1639G	Likely benign	0	1	49	24
MUT:ANKRD11:Ala1733Val	PROT:Q6UB99	ANKRD11	A	1733	V	A1733V	Benign/Likely benign	0	2	49	57
MUT:ANKRD11:Ala1775Pro	PROT:Q6UB99	ANKRD11	A	1775	P	A1775P	Likely benign	0	1	49	15
MUT:ANKRD11:Ala1775Ser	PROT:Q6UB99	ANKRD11	A	1775	S	A1775S	Likely benign	0	1	49	15
MUT:ANKRD11:Ala1780Thr	PROT:Q6UB99	ANKRD11	A	1780	T	A1780T	Benign/Likely benign	0	2	49	10
MUT:ANKRD11:Ala181Thr	PROT:Q6UB99	ANKRD11	A	181	T	A181T	Benign/Likely benign	0	2	49	31
MUT:ANKRD11:Ala1840Thr	PROT:Q6UB99	ANKRD11	A	1840	T	A1840T	Likely benign	0	1	49	7
MUT:ANKRD11:Ala2013Val	PROT:Q6UB99	ANKRD11	A	2013	V	A2013V	Likely benign	0	1	49	8
MUT:ANKRD11:Ala2023Pro	PROT:Q6UB99	ANKRD11	A	2023	P	A2023P	Benign/Likely benign	0	1	49	2
MUT:ANKRD11:Ala2047Gly	PROT:Q6UB99	ANKRD11	A	2047	G	A2047G	Benign/Likely benign	0	1	49	26
MUT:ANKRD11:Ala2047Thr	PROT:Q6UB99	ANKRD11	A	2047	T	A2047T	Benign/Likely benign	0	1	49	26
MUT:ANKRD11:Ala2088Thr	PROT:Q6UB99	ANKRD11	A	2088	T	A2088T	Likely benign	0	1	49	67
MUT:ANKRD11:Ala217Val	PROT:Q6UB99	ANKRD11	A	217	V	A217V	Benign	0	1	49	59
MUT:ANKRD11:Ala2201Val	PROT:Q6UB99	ANKRD11	A	2201	V	A2201V	Benign/Likely benign	0	1	49	173
MUT:ANKRD11:Ala2242Val	PROT:Q6UB99	ANKRD11	A	2242	V	A2242V	Benign/Likely benign	0	2	49	132
MUT:ANKRD11:Ala2266Val	PROT:Q6UB99	ANKRD11	A	2266	V	A2266V	Benign/Likely benign	0	2	49	108
MUT:ANKRD11:Ala2275Thr	PROT:Q6UB99	ANKRD11	A	2275	T	A2275T	Likely benign	0	2	49	99
MUT:ANKRD11:Ala2326Gly	PROT:Q6UB99	ANKRD11	A	2326	G	A2326G	Benign/Likely benign	0	1	49	48
MUT:ANKRD11:Ala2326Val	PROT:Q6UB99	ANKRD11	A	2326	V	A2326V	Benign/Likely benign	0	2	49	48
MUT:ANKRD11:Ala2584Asp	PROT:Q6UB99	ANKRD11	A	2584	D	A2584D	Likely pathogenic	1	1	49	210
MUT:ANKRD11:Ala305Thr	PROT:Q6UB99	ANKRD11	A	305	T	A305T	Benign/Likely benign	0	1	49	29
MUT:ANKRD11:Ala305Val	PROT:Q6UB99	ANKRD11	A	305	V	A305V	Benign	0	1	49	29
MUT:ANKRD11:Ala341Gly	PROT:Q6UB99	ANKRD11	A	341	G	A341G	Benign	0	1	49	36
MUT:ANKRD11:Ala416Thr	PROT:Q6UB99	ANKRD11	A	416	T	A416T	Likely benign	0	1	49	5
MUT:ANKRD11:Ala416Val	PROT:Q6UB99	ANKRD11	A	416	V	A416V	Likely benign	0	1	49	5
MUT:ANKRD11:Ala602Ser	PROT:Q6UB99	ANKRD11	A	602	S	A602S	Likely benign	0	1	49	7
MUT:ANKRD11:Ala615Gly	PROT:Q6UB99	ANKRD11	A	615	G	A615G	Benign/Likely benign	0	1	49	1
MUT:ANKRD11:Ala615Val	PROT:Q6UB99	ANKRD11	A	615	V	A615V	Likely benign	0	2	49	1
MUT:ANKRD11:Ala618Thr	PROT:Q6UB99	ANKRD11	A	618	T	A618T	Benign/Likely benign	0	2	49	4
MUT:ANKRD11:Ala64Thr	PROT:Q6UB99	ANKRD11	A	64	T	A64T	Benign	0	1	49	9
MUT:ANKRD11:Ala64Val	PROT:Q6UB99	ANKRD11	A	64	V	A64V	Benign/Likely benign	0	1	49	9
MUT:ANKRD11:Ala94Pro	PROT:Q6UB99	ANKRD11	A	94	P	A94P	Benign	0	1	49	19
MUT:ANKRD11:Ala971Val	PROT:Q6UB99	ANKRD11	A	971	V	A971V	Benign	0	1	49	108
MUT:ANKRD11:Arg1019Lys	PROT:Q6UB99	ANKRD11	R	1019	K	R1019K	Likely benign	0	1	49	60
MUT:ANKRD11:Arg1175Lys	PROT:Q6UB99	ANKRD11	R	1175	K	R1175K	Likely benign	0	1	49	55
MUT:ANKRD11:Arg1195Lys	PROT:Q6UB99	ANKRD11	R	1195	K	R1195K	Likely benign	0	2	49	75
MUT:ANKRD11:Arg1311Gln	PROT:Q6UB99	ANKRD11	R	1311	Q	R1311Q	Likely benign	0	1	49	108
MUT:ANKRD11:Arg1497Trp	PROT:Q6UB99	ANKRD11	R	1497	W	R1497W	Likely benign	0	1	49	12
MUT:ANKRD11:Arg182Trp	PROT:Q6UB99	ANKRD11	R	182	W	R182W	Benign	0	1	49	32
MUT:ANKRD11:Arg2249Cys	PROT:Q6UB99	ANKRD11	R	2249	C	R2249C	Benign/Likely benign	0	1	49	125
MUT:ANKRD11:Arg2249His	PROT:Q6UB99	ANKRD11	R	2249	H	R2249H	Benign/Likely benign	0	2	49	125
MUT:ANKRD11:Arg2452Gly	PROT:Q6UB99	ANKRD11	R	2452	G	R2452G	Pathogenic/Likely pathogenic	1	1	49	78
MUT:ANKRD11:Arg2452Pro	PROT:Q6UB99	ANKRD11	R	2452	P	R2452P	Likely pathogenic	1	1	49	78
MUT:ANKRD11:Arg2512Gln	PROT:Q6UB99	ANKRD11	R	2512	Q	R2512Q	Pathogenic/Likely pathogenic	1	1	49	138
MUT:ANKRD11:Arg2512Pro	PROT:Q6UB99	ANKRD11	R	2512	P	R2512P	Likely pathogenic	1	1	49	138
MUT:ANKRD11:Arg2512Trp	PROT:Q6UB99	ANKRD11	R	2512	W	R2512W	Pathogenic/Likely pathogenic	1	2	49	138
MUT:ANKRD11:Arg2523Trp	PROT:Q6UB99	ANKRD11	R	2523	W	R2523W	Pathogenic/Likely pathogenic	1	1	49	149
MUT:ANKRD11:Arg2536Trp	PROT:Q6UB99	ANKRD11	R	2536	W	R2536W	Pathogenic/Likely pathogenic	1	1	49	162
MUT:ANKRD11:Arg2585His	PROT:Q6UB99	ANKRD11	R	2585	H	R2585H	Pathogenic/Likely pathogenic	1	2	49	211
MUT:ANKRD11:Arg357Ser	PROT:Q6UB99	ANKRD11	R	357	S	R357S	Benign	0	1	49	20
MUT:ANKRD11:Arg44Cys	PROT:Q6UB99	ANKRD11	R	44	C	R44C	Benign/Likely benign	0	1	49	29
MUT:ANKRD11:Arg82Gln	PROT:Q6UB99	ANKRD11	R	82	Q	R82Q	Benign	0	1	49	7
MUT:ANKRD11:Arg82Trp	PROT:Q6UB99	ANKRD11	R	82	W	R82W	Benign	0	1	49	7
MUT:ANKRD11:Arg838Gln	PROT:Q6UB99	ANKRD11	R	838	Q	R838Q	Likely benign	0	1	49	4
MUT:ANKRD11:Arg840Gln	PROT:Q6UB99	ANKRD11	R	840	Q	R840Q	Benign/Likely benign	0	2	49	3
MUT:ANKRD11:Arg92Gln	PROT:Q6UB99	ANKRD11	R	92	Q	R92Q	Benign/Likely benign	0	1	49	17
MUT:ANKRD11:Asn130Ser	PROT:Q6UB99	ANKRD11	N	130	S	N130S	Benign/Likely benign	0	1	49	20
MUT:ANKRD11:Asn275Ser	PROT:Q6UB99	ANKRD11	N	275	S	N275S	Benign/Likely benign	0	1	49	1
MUT:ANKRD11:Asp1219Asn	PROT:Q6UB99	ANKRD11	D	1219	N	D1219N	Likely benign	0	1	49	99
MUT:ANKRD11:Asp1227Asn	PROT:Q6UB99	ANKRD11	D	1227	N	D1227N	Likely benign	0	1	49	107
MUT:ANKRD11:Asp1275Glu	PROT:Q6UB99	ANKRD11	D	1275	E	D1275E	Likely benign	0	1	49	144
MUT:ANKRD11:Asp1332Asn	PROT:Q6UB99	ANKRD11	D	1332	N	D1332N	Likely benign	0	2	49	87
MUT:ANKRD11:Asp134Gly	PROT:Q6UB99	ANKRD11	D	134	G	D134G	Benign	0	1	49	16
MUT:ANKRD11:Asp1478Glu	PROT:Q6UB99	ANKRD11	D	1478	E	D1478E	Likely benign	0	1	49	31
MUT:ANKRD11:Asp1675Glu	PROT:Q6UB99	ANKRD11	D	1675	E	D1675E	Likely benign	0	1	49	60
MUT:ANKRD11:Asp1696Glu	PROT:Q6UB99	ANKRD11	D	1696	E	D1696E	Benign/Likely benign	0	2	49	81
MUT:ANKRD11:Asp1731Glu	PROT:Q6UB99	ANKRD11	D	1731	E	D1731E	Likely benign	0	1	49	59
MUT:ANKRD11:Asp1822Asn	PROT:Q6UB99	ANKRD11	D	1822	N	D1822N	Benign/Likely benign	0	2	49	24
MUT:ANKRD11:Asp1831Tyr	PROT:Q6UB99	ANKRD11	D	1831	Y	D1831Y	Likely benign	0	1	49	16
MUT:ANKRD11:Asp1998Glu	PROT:Q6UB99	ANKRD11	D	1998	E	D1998E	Likely benign	0	1	49	8
MUT:ANKRD11:Asp2036Asn	PROT:Q6UB99	ANKRD11	D	2036	N	D2036N	Benign/Likely benign	0	1	49	15
MUT:ANKRD11:Asp2042Gly	PROT:Q6UB99	ANKRD11	D	2042	G	D2042G	Likely benign	0	1	49	21
MUT:ANKRD11:Asp2376Glu	PROT:Q6UB99	ANKRD11	D	2376	E	D2376E	Benign/Likely benign	0	1	49	2
MUT:ANKRD11:Asp46Asn	PROT:Q6UB99	ANKRD11	D	46	N	D46N	Benign/Likely benign	0	3	49	27
MUT:ANKRD11:Asp669Ala	PROT:Q6UB99	ANKRD11	D	669	A	D669A	Likely pathogenic	1	1	49	1
MUT:ANKRD11:Asp74Gly	PROT:Q6UB99	ANKRD11	D	74	G	D74G	Benign	0	1	49	1
MUT:ANKRD11:Asp938Glu	PROT:Q6UB99	ANKRD11	D	938	E	D938E	Likely benign	0	1	49	78
MUT:ANKRD11:Cys1845Phe	PROT:Q6UB99	ANKRD11	C	1845	F	C1845F	Likely benign	0	1	49	2
MUT:ANKRD11:Cys209Tyr	PROT:Q6UB99	ANKRD11	C	209	Y	C209Y	Likely pathogenic	1	1	49	59
MUT:ANKRD11:Cys477Ser	PROT:Q6UB99	ANKRD11	C	477	S	C477S	Likely benign	0	1	49	40
MUT:ANKRD11:Cys958Ser	PROT:Q6UB99	ANKRD11	C	958	S	C958S	Likely benign	0	1	49	98
MUT:ANKRD11:Gln1150Arg	PROT:Q6UB99	ANKRD11	Q	1150	R	Q1150R	Likely benign	0	1	49	30
MUT:ANKRD11:Gln1956Glu	PROT:Q6UB99	ANKRD11	Q	1956	E	Q1956E	Likely benign	0	1	49	27
MUT:ANKRD11:Gln2508Leu	PROT:Q6UB99	ANKRD11	Q	2508	L	Q2508L	Likely pathogenic	1	1	49	134
MUT:ANKRD11:Glu1018Lys	PROT:Q6UB99	ANKRD11	E	1018	K	E1018K	Likely benign	0	1	49	61
MUT:ANKRD11:Glu1294Gln	PROT:Q6UB99	ANKRD11	E	1294	Q	E1294Q	Benign/Likely benign	0	2	49	125
MUT:ANKRD11:Glu1369Asp	PROT:Q6UB99	ANKRD11	E	1369	D	E1369D	Likely benign	0	1	49	50
MUT:ANKRD11:Glu1413Lys	PROT:Q6UB99	ANKRD11	E	1413	K	E1413K	Benign/Likely benign	0	2	49	6
MUT:ANKRD11:Glu1472Lys	PROT:Q6UB99	ANKRD11	E	1472	K	E1472K	Likely benign	0	1	49	37
MUT:ANKRD11:Glu1801Lys	PROT:Q6UB99	ANKRD11	E	1801	K	E1801K	Likely benign	0	1	49	3
MUT:ANKRD11:Glu2074Ala	PROT:Q6UB99	ANKRD11	E	2074	A	E2074A	Benign/Likely benign	0	2	49	53
MUT:ANKRD11:Glu2116Lys	PROT:Q6UB99	ANKRD11	E	2116	K	E2116K	Likely benign	0	1	49	95
MUT:ANKRD11:Glu2210Gln	PROT:Q6UB99	ANKRD11	E	2210	Q	E2210Q	Likely benign	0	1	49	164
MUT:ANKRD11:Glu2261Lys	PROT:Q6UB99	ANKRD11	E	2261	K	E2261K	Benign/Likely benign	0	1	49	113
MUT:ANKRD11:Glu2524Gly	PROT:Q6UB99	ANKRD11	E	2524	G	E2524G	Pathogenic	1	1	49	150
MUT:ANKRD11:Glu2562Lys	PROT:Q6UB99	ANKRD11	E	2562	K	E2562K	Likely pathogenic	1	1	49	188
MUT:ANKRD11:Glu709Gln	PROT:Q6UB99	ANKRD11	E	709	Q	E709Q	Likely benign	0	1	49	39
MUT:ANKRD11:Glu76Lys	PROT:Q6UB99	ANKRD11	E	76	K	E76K	Pathogenic	1	1	49	1
MUT:ANKRD11:Glu969Gln	PROT:Q6UB99	ANKRD11	E	969	Q	E969Q	Likely benign	0	1	49	109
MUT:ANKRD11:Glu982Gln	PROT:Q6UB99	ANKRD11	E	982	Q	E982Q	Benign/Likely benign	0	2	49	97
MUT:ANKRD11:Gly1014Ala	PROT:Q6UB99	ANKRD11	G	1014	A	G1014A	Likely benign	0	1	49	65
MUT:ANKRD11:Gly1134Arg	PROT:Q6UB99	ANKRD11	G	1134	R	G1134R	Likely benign	0	2	49	14
MUT:ANKRD11:Gly1390Cys	PROT:Q6UB99	ANKRD11	G	1390	C	G1390C	Likely benign	0	1	49	29
MUT:ANKRD11:Gly1682Cys	PROT:Q6UB99	ANKRD11	G	1682	C	G1682C	Likely benign	0	1	49	67
MUT:ANKRD11:Gly2108Asp	PROT:Q6UB99	ANKRD11	G	2108	D	G2108D	Benign/Likely benign	0	1	49	87
MUT:ANKRD11:Gly2169Glu	PROT:Q6UB99	ANKRD11	G	2169	E	G2169E	Likely benign	0	1	49	148
MUT:ANKRD11:Gly2233Glu	PROT:Q6UB99	ANKRD11	G	2233	E	G2233E	Benign/Likely benign	0	2	49	141
MUT:ANKRD11:Gly2262Asp	PROT:Q6UB99	ANKRD11	G	2262	D	G2262D	Likely benign	0	1	49	112
MUT:ANKRD11:Gly996Val	PROT:Q6UB99	ANKRD11	G	996	V	G996V	Likely benign	0	1	49	83
MUT:ANKRD11:His139Gln	PROT:Q6UB99	ANKRD11	H	139	Q	H139Q	Likely benign	0	1	49	11
MUT:ANKRD11:His1465Asn	PROT:Q6UB99	ANKRD11	H	1465	N	H1465N	Likely benign	0	1	49	44
MUT:ANKRD11:His1488Gln	PROT:Q6UB99	ANKRD11	H	1488	Q	H1488Q	Likely benign	0	1	49	21
MUT:ANKRD11:His1720Gln	PROT:Q6UB99	ANKRD11	H	1720	Q	H1720Q	Likely benign	0	1	49	70
MUT:ANKRD11:His2519Leu	PROT:Q6UB99	ANKRD11	H	2519	L	H2519L	Likely pathogenic	1	1	49	145
MUT:ANKRD11:His526Leu	PROT:Q6UB99	ANKRD11	H	526	L	H526L	Benign/Likely benign	0	1	49	40
MUT:ANKRD11:Ile1042Val	PROT:Q6UB99	ANKRD11	I	1042	V	I1042V	Likely benign	0	1	49	37
MUT:ANKRD11:Ile1094Met	PROT:Q6UB99	ANKRD11	I	1094	M	I1094M	Likely benign	0	2	49	15
MUT:ANKRD11:Ile1412Thr	PROT:Q6UB99	ANKRD11	I	1412	T	I1412T	Benign/Likely benign	0	2	49	7
MUT:ANKRD11:Ile728Met	PROT:Q6UB99	ANKRD11	I	728	M	I728M	Benign/Likely benign	0	1	49	58
MUT:ANKRD11:Leu119Phe	PROT:Q6UB99	ANKRD11	L	119	F	L119F	Benign	0	1	49	31
MUT:ANKRD11:Leu1456Pro	PROT:Q6UB99	ANKRD11	L	1456	P	L1456P	Benign	0	1	49	37
MUT:ANKRD11:Leu2000Phe	PROT:Q6UB99	ANKRD11	L	2000	F	L2000F	Benign/Likely benign	0	1	49	10
MUT:ANKRD11:Leu2027Val	PROT:Q6UB99	ANKRD11	L	2027	V	L2027V	Benign/Likely benign	0	1	49	6
MUT:ANKRD11:Leu2251Pro	PROT:Q6UB99	ANKRD11	L	2251	P	L2251P	Likely benign	0	1	49	123
MUT:ANKRD11:Leu2478Pro	PROT:Q6UB99	ANKRD11	L	2478	P	L2478P	Pathogenic	1	1	49	104
MUT:ANKRD11:Leu2515Pro	PROT:Q6UB99	ANKRD11	L	2515	P	L2515P	Likely pathogenic	1	1	49	141
MUT:ANKRD11:Leu758Pro	PROT:Q6UB99	ANKRD11	L	758	P	L758P	Likely benign	0	1	49	54
MUT:ANKRD11:Lys1136Thr	PROT:Q6UB99	ANKRD11	K	1136	T	K1136T	Likely benign	0	1	49	16
MUT:ANKRD11:Lys1206Arg	PROT:Q6UB99	ANKRD11	K	1206	R	K1206R	Likely benign	0	1	49	86
MUT:ANKRD11:Lys1278Glu	PROT:Q6UB99	ANKRD11	K	1278	E	K1278E	Likely benign	0	1	49	141
MUT:ANKRD11:Lys1461Arg	PROT:Q6UB99	ANKRD11	K	1461	R	K1461R	Benign/Likely benign	0	1	49	42
MUT:ANKRD11:Lys1464Arg	PROT:Q6UB99	ANKRD11	K	1464	R	K1464R	Benign/Likely benign	0	1	49	45
MUT:ANKRD11:Lys1540Arg	PROT:Q6UB99	ANKRD11	K	1540	R	K1540R	Benign/Likely benign	0	2	49	31
MUT:ANKRD11:Lys1554Arg	PROT:Q6UB99	ANKRD11	K	1554	R	K1554R	Likely benign	0	1	49	28
MUT:ANKRD11:Lys1889Glu	PROT:Q6UB99	ANKRD11	K	1889	E	K1889E	Benign/Likely benign	0	1	49	2
MUT:ANKRD11:Lys1992Gln	PROT:Q6UB99	ANKRD11	K	1992	Q	K1992Q	Likely pathogenic	1	1	49	2
MUT:ANKRD11:Lys2325Arg	PROT:Q6UB99	ANKRD11	K	2325	R	K2325R	Likely benign	0	1	49	49
MUT:ANKRD11:Lys248Asn	PROT:Q6UB99	ANKRD11	K	248	N	K248N	Likely pathogenic	1	1	49	28
MUT:ANKRD11:Lys2602Asn	PROT:Q6UB99	ANKRD11	K	2602	N	K2602N	Likely pathogenic	1	1	49	228
MUT:ANKRD11:Lys770Arg	PROT:Q6UB99	ANKRD11	K	770	R	K770R	Likely benign	0	1	49	42
MUT:ANKRD11:Met1548Ile	PROT:Q6UB99	ANKRD11	M	1548	I	M1548I	Likely benign	0	1	49	34
MUT:ANKRD11:Met1605Ile	PROT:Q6UB99	ANKRD11	M	1605	I	M1605I	Likely benign	0	1	49	10
MUT:ANKRD11:Met2166Arg	PROT:Q6UB99	ANKRD11	M	2166	R	M2166R	Benign/Likely benign	0	1	49	145
MUT:ANKRD11:Met2601Leu	PROT:Q6UB99	ANKRD11	M	2601	L	M2601L	Likely benign	0	1	49	227
MUT:ANKRD11:Met868Ile	PROT:Q6UB99	ANKRD11	M	868	I	M868I	Likely benign	0	1	49	8
MUT:ANKRD11:Phe1325Leu	PROT:Q6UB99	ANKRD11	F	1325	L	F1325L	Benign/Likely benign	0	1	49	94
MUT:ANKRD11:Phe1396Tyr	PROT:Q6UB99	ANKRD11	F	1396	Y	F1396Y	Likely benign	0	1	49	23
MUT:ANKRD11:Phe2065Leu	PROT:Q6UB99	ANKRD11	F	2065	L	F2065L	Benign/Likely benign	0	2	49	44
MUT:ANKRD11:Pro1144Leu	PROT:Q6UB99	ANKRD11	P	1144	L	P1144L	Benign/Likely benign	0	1	49	24
MUT:ANKRD11:Pro1315Arg	PROT:Q6UB99	ANKRD11	P	1315	R	P1315R	Likely benign	0	1	49	104
MUT:ANKRD11:Pro1341Leu	PROT:Q6UB99	ANKRD11	P	1341	L	P1341L	Likely benign	0	1	49	78
MUT:ANKRD11:Pro1523Leu	PROT:Q6UB99	ANKRD11	P	1523	L	P1523L	Likely benign	0	1	49	14
MUT:ANKRD11:Pro1638Ala	PROT:Q6UB99	ANKRD11	P	1638	A	P1638A	Benign/Likely benign	0	1	49	23
MUT:ANKRD11:Pro1837Ser	PROT:Q6UB99	ANKRD11	P	1837	S	P1837S	Benign/Likely benign	0	2	49	10
MUT:ANKRD11:Pro1860Ser	PROT:Q6UB99	ANKRD11	P	1860	S	P1860S	Benign/Likely benign	0	3	49	1
MUT:ANKRD11:Pro1868Gln	PROT:Q6UB99	ANKRD11	P	1868	Q	P1868Q	Likely benign	0	1	49	9
MUT:ANKRD11:Pro1877Ser	PROT:Q6UB99	ANKRD11	P	1877	S	P1877S	Benign/Likely benign	0	1	49	1
MUT:ANKRD11:Pro1894Thr	PROT:Q6UB99	ANKRD11	P	1894	T	P1894T	Likely benign	0	1	49	1
MUT:ANKRD11:Pro1925Thr	PROT:Q6UB99	ANKRD11	P	1925	T	P1925T	Likely benign	0	2	49	32
MUT:ANKRD11:Pro1933Leu	PROT:Q6UB99	ANKRD11	P	1933	L	P1933L	Likely benign	0	1	49	40
MUT:ANKRD11:Pro1970Thr	PROT:Q6UB99	ANKRD11	P	1970	T	P1970T	Benign	0	2	49	13
MUT:ANKRD11:Pro1996Leu	PROT:Q6UB99	ANKRD11	P	1996	L	P1996L	Likely benign	0	1	49	6
MUT:ANKRD11:Pro2007Leu	PROT:Q6UB99	ANKRD11	P	2007	L	P2007L	Benign/Likely benign	0	2	49	14
MUT:ANKRD11:Pro2022Leu	PROT:Q6UB99	ANKRD11	P	2022	L	P2022L	Benign/Likely benign	0	2	49	1
MUT:ANKRD11:Pro2058Ser	PROT:Q6UB99	ANKRD11	P	2058	S	P2058S	Likely benign	0	1	49	37
MUT:ANKRD11:Pro2059His	PROT:Q6UB99	ANKRD11	P	2059	H	P2059H	Benign/Likely benign	0	1	49	38
MUT:ANKRD11:Pro2162Ser	PROT:Q6UB99	ANKRD11	P	2162	S	P2162S	Benign/Likely benign	0	2	49	141
MUT:ANKRD11:Pro2187Leu	PROT:Q6UB99	ANKRD11	P	2187	L	P2187L	Benign/Likely benign	0	2	49	166
MUT:ANKRD11:Pro2188Leu	PROT:Q6UB99	ANKRD11	P	2188	L	P2188L	Likely benign	0	1	49	167
MUT:ANKRD11:Pro2263Ser	PROT:Q6UB99	ANKRD11	P	2263	S	P2263S	Benign/Likely benign	0	1	49	111
MUT:ANKRD11:Pro2264Leu	PROT:Q6UB99	ANKRD11	P	2264	L	P2264L	Benign/Likely benign	0	2	49	110
MUT:ANKRD11:Pro2276Leu	PROT:Q6UB99	ANKRD11	P	2276	L	P2276L	Benign/Likely benign	0	2	49	98
MUT:ANKRD11:Pro2276Ser	PROT:Q6UB99	ANKRD11	P	2276	S	P2276S	Benign/Likely benign	0	2	49	98
MUT:ANKRD11:Pro2290Ser	PROT:Q6UB99	ANKRD11	P	2290	S	P2290S	Benign	0	1	49	84
MUT:ANKRD11:Pro2463Arg	PROT:Q6UB99	ANKRD11	P	2463	R	P2463R	Likely pathogenic	1	1	49	89
MUT:ANKRD11:Pro2494Arg	PROT:Q6UB99	ANKRD11	P	2494	R	P2494R	Pathogenic	1	1	49	120
MUT:ANKRD11:Pro557Ala	PROT:Q6UB99	ANKRD11	P	557	A	P557A	Pathogenic	1	1	49	9
MUT:ANKRD11:Pro753Leu	PROT:Q6UB99	ANKRD11	P	753	L	P753L	Likely benign	0	1	49	59
MUT:ANKRD11:Ser1271Leu	PROT:Q6UB99	ANKRD11	S	1271	L	S1271L	Likely benign	0	1	49	148
MUT:ANKRD11:Ser1360Thr	PROT:Q6UB99	ANKRD11	S	1360	T	S1360T	Likely benign	0	1	49	59
MUT:ANKRD11:Ser1433Pro	PROT:Q6UB99	ANKRD11	S	1433	P	S1433P	Likely benign	0	1	49	14
MUT:ANKRD11:Ser1451Arg	PROT:Q6UB99	ANKRD11	S	1451	R	S1451R	Likely benign	0	1	49	32
MUT:ANKRD11:Ser153Cys	PROT:Q6UB99	ANKRD11	S	153	C	S153C	Benign/Likely benign	0	1	49	3
MUT:ANKRD11:Ser1549Thr	PROT:Q6UB99	ANKRD11	S	1549	T	S1549T	Likely benign	0	1	49	33
MUT:ANKRD11:Ser1878Pro	PROT:Q6UB99	ANKRD11	S	1878	P	S1878P	Benign/Likely benign	0	4	49	0
MUT:ANKRD11:Ser2051Leu	PROT:Q6UB99	ANKRD11	S	2051	L	S2051L	Likely benign	0	1	49	30
MUT:ANKRD11:Ser2071Leu	PROT:Q6UB99	ANKRD11	S	2071	L	S2071L	Likely benign	0	2	49	50
MUT:ANKRD11:Ser2237Cys	PROT:Q6UB99	ANKRD11	S	2237	C	S2237C	Likely benign	0	1	49	137
MUT:ANKRD11:Ser2238Gly	PROT:Q6UB99	ANKRD11	S	2238	G	S2238G	Likely benign	0	2	49	136
MUT:ANKRD11:Ser2589Pro	PROT:Q6UB99	ANKRD11	S	2589	P	S2589P	Likely pathogenic	1	1	49	215
MUT:ANKRD11:Ser437Gly	PROT:Q6UB99	ANKRD11	S	437	G	S437G	Likely benign	0	1	49	0
MUT:ANKRD11:Ser481Leu	PROT:Q6UB99	ANKRD11	S	481	L	S481L	Likely benign	0	1	49	44
MUT:ANKRD11:Ser517Tyr	PROT:Q6UB99	ANKRD11	S	517	Y	S517Y	Likely benign	0	1	49	49
MUT:ANKRD11:Ser580Tyr	PROT:Q6UB99	ANKRD11	S	580	Y	S580Y	Likely benign	0	2	49	14
MUT:ANKRD11:Ser613Cys	PROT:Q6UB99	ANKRD11	S	613	C	S613C	Likely benign	0	1	49	0
MUT:ANKRD11:Ser739Leu	PROT:Q6UB99	ANKRD11	S	739	L	S739L	Likely benign	0	1	49	69
MUT:ANKRD11:Ser73Leu	PROT:Q6UB99	ANKRD11	S	73	L	S73L	Benign	0	1	49	0
MUT:ANKRD11:Ser747Leu	PROT:Q6UB99	ANKRD11	S	747	L	S747L	Benign/Likely benign	0	2	49	65
MUT:ANKRD11:Ser860Leu	PROT:Q6UB99	ANKRD11	S	860	L	S860L	Likely benign	0	1	49	0
MUT:ANKRD11:Ser870Asn	PROT:Q6UB99	ANKRD11	S	870	N	S870N	Likely benign	0	2	49	10
MUT:ANKRD11:Ser957Asn	PROT:Q6UB99	ANKRD11	S	957	N	S957N	Benign	0	1	49	97
MUT:ANKRD11:Thr1146Met	PROT:Q6UB99	ANKRD11	T	1146	M	T1146M	Benign/Likely benign	0	2	49	26
MUT:ANKRD11:Thr1214Ala	PROT:Q6UB99	ANKRD11	T	1214	A	T1214A	Likely benign	0	1	49	94
MUT:ANKRD11:Thr1229Met	PROT:Q6UB99	ANKRD11	T	1229	M	T1229M	Likely benign	0	1	49	109
MUT:ANKRD11:Thr1326Met	PROT:Q6UB99	ANKRD11	T	1326	M	T1326M	Likely benign	0	2	49	93
MUT:ANKRD11:Thr1913Ala	PROT:Q6UB99	ANKRD11	T	1913	A	T1913A	Likely benign	0	1	49	20
MUT:ANKRD11:Thr1913Asn	PROT:Q6UB99	ANKRD11	T	1913	N	T1913N	Benign/Likely benign	0	2	49	20
MUT:ANKRD11:Thr2145Ile	PROT:Q6UB99	ANKRD11	T	2145	I	T2145I	Benign	0	1	49	124
MUT:ANKRD11:Thr2225Met	PROT:Q6UB99	ANKRD11	T	2225	M	T2225M	Likely benign	0	1	49	149
MUT:ANKRD11:Thr278Met	PROT:Q6UB99	ANKRD11	T	278	M	T278M	Benign	0	1	49	2
MUT:ANKRD11:Thr290Ala	PROT:Q6UB99	ANKRD11	T	290	A	T290A	Benign/Likely benign	0	1	49	14
MUT:ANKRD11:Thr297Met	PROT:Q6UB99	ANKRD11	T	297	M	T297M	Benign/Likely benign	0	4	49	21
MUT:ANKRD11:Thr319Met	PROT:Q6UB99	ANKRD11	T	319	M	T319M	Benign	0	1	49	43
MUT:ANKRD11:Thr340Met	PROT:Q6UB99	ANKRD11	T	340	M	T340M	Benign/Likely benign	0	1	49	37
MUT:ANKRD11:Thr375Met	PROT:Q6UB99	ANKRD11	T	375	M	T375M	Likely benign	0	2	49	2
MUT:ANKRD11:Thr462Arg	PROT:Q6UB99	ANKRD11	T	462	R	T462R	Likely benign	0	1	49	25
MUT:ANKRD11:Thr680Ser	PROT:Q6UB99	ANKRD11	T	680	S	T680S	Benign/Likely benign	0	1	49	10
MUT:ANKRD11:Tyr579Asp	PROT:Q6UB99	ANKRD11	Y	579	D	Y579D	Likely benign	0	2	49	13
MUT:ANKRD11:Tyr579Cys	PROT:Q6UB99	ANKRD11	Y	579	C	Y579C	Likely benign	0	1	49	13
MUT:ANKRD11:Val1709Ala	PROT:Q6UB99	ANKRD11	V	1709	A	V1709A	Likely benign	0	1	49	81
MUT:ANKRD11:Val1805Ile	PROT:Q6UB99	ANKRD11	V	1805	I	V1805I	Benign/Likely benign	0	2	49	7
MUT:ANKRD11:Val194Ile	PROT:Q6UB99	ANKRD11	V	194	I	V194I	Benign	0	1	49	44
MUT:ANKRD11:Val2029Ile	PROT:Q6UB99	ANKRD11	V	2029	I	V2029I	Benign/Likely benign	0	2	49	8
MUT:ANKRD11:Val2044Ala	PROT:Q6UB99	ANKRD11	V	2044	A	V2044A	Likely benign	0	1	49	23
MUT:ANKRD11:Val216Ile	PROT:Q6UB99	ANKRD11	V	216	I	V216I	Benign/Likely benign	0	1	49	60
MUT:ANKRD11:Val2182Leu	PROT:Q6UB99	ANKRD11	V	2182	L	V2182L	Likely benign	0	1	49	161
MUT:ANKRD11:Val2221Leu	PROT:Q6UB99	ANKRD11	V	2221	L	V2221L	Likely benign	0	1	49	153
MUT:ANKRD11:Val2244Ile	PROT:Q6UB99	ANKRD11	V	2244	I	V2244I	Benign/Likely benign	0	2	49	130
MUT:ANKRD11:Val2329Met	PROT:Q6UB99	ANKRD11	V	2329	M	V2329M	Likely benign	0	2	49	45
MUT:ANKRD11:Val2563Asp	PROT:Q6UB99	ANKRD11	V	2563	D	V2563D	Likely pathogenic	1	1	49	189
MUT:ANKRD11:Val280Leu	PROT:Q6UB99	ANKRD11	V	280	L	V280L	Benign/Likely benign	0	1	49	4
MUT:ANKRD11:Val343Ile	PROT:Q6UB99	ANKRD11	V	343	I	V343I	Benign/Likely benign	0	2	49	34
MUT:ANKRD11:Val420Met	PROT:Q6UB99	ANKRD11	V	420	M	V420M	Benign/Likely benign	0	1	49	9
MUT:ANKRD11:Val51Leu	PROT:Q6UB99	ANKRD11	V	51	L	V51L	Benign	0	1	49	22
MUT:ANKRD11:Val807Ala	PROT:Q6UB99	ANKRD11	V	807	A	V807A	Likely benign	0	1	49	5
MUT:ANKRD17:Ala2148Val	PROT:O75179	ANKRD17	A	2148	V	A2148V	Likely benign	0	1	39	146
MUT:ANKRD17:Arg2091Ser	PROT:O75179	ANKRD17	R	2091	S	R2091S	Likely benign	0	1	39	100
MUT:ANKRD17:Arg2434Gly	PROT:O75179	ANKRD17	R	2434	G	R2434G	Likely pathogenic	1	1	39	19
MUT:ANKRD17:Arg2502Gln	PROT:O75179	ANKRD17	R	2502	Q	R2502Q	Likely benign	0	1	39	87
MUT:ANKRD17:Asn1829His	PROT:O75179	ANKRD17	N	1829	H	N1829H	Likely benign	0	1	39	23
MUT:ANKRD17:Asp124Glu	PROT:O75179	ANKRD17	D	124	E	D124E	Likely benign	0	1	39	32
MUT:ANKRD17:Gln68Pro	PROT:O75179	ANKRD17	Q	68	P	Q68P	Likely pathogenic	1	1	39	88
MUT:ANKRD17:Glu1526Gln	PROT:O75179	ANKRD17	E	1526	Q	E1526Q	Likely benign	0	1	39	54
MUT:ANKRD17:Gly1093Ala	PROT:O75179	ANKRD17	G	1093	A	G1093A	Likely benign	0	1	39	57
MUT:ANKRD17:Gly1364Ala	PROT:O75179	ANKRD17	G	1364	A	G1364A	Likely pathogenic	1	1	39	31
MUT:ANKRD17:Gly478Arg	PROT:O75179	ANKRD17	G	478	R	G478R	Likely pathogenic	1	1	39	217
MUT:ANKRD17:His71Gln	PROT:O75179	ANKRD17	H	71	Q	H71Q	Likely benign	0	1	39	85
MUT:ANKRD17:Ile1679Val	PROT:O75179	ANKRD17	I	1679	V	I1679V	Likely benign	0	1	39	3
MUT:ANKRD17:Leu1120Arg	PROT:O75179	ANKRD17	L	1120	R	L1120R	Likely pathogenic	1	1	39	30
MUT:ANKRD17:Leu519Pro	PROT:O75179	ANKRD17	L	519	P	L519P	Likely pathogenic	1	1	39	176
MUT:ANKRD17:Leu668Arg	PROT:O75179	ANKRD17	L	668	R	L668R	Likely pathogenic	1	1	39	27
MUT:ANKRD17:Leu716Arg	PROT:O75179	ANKRD17	L	716	R	L716R	Likely pathogenic	1	1	39	21
MUT:ANKRD17:Met2325Thr	PROT:O75179	ANKRD17	M	2325	T	M2325T	Likely benign	0	1	39	31
MUT:ANKRD17:Pro1186Arg	PROT:O75179	ANKRD17	P	1186	R	P1186R	Likely pathogenic	1	1	39	36
MUT:ANKRD17:Pro2131Leu	PROT:O75179	ANKRD17	P	2131	L	P2131L	Likely benign	0	1	39	140
MUT:ANKRD17:Pro2240Arg	PROT:O75179	ANKRD17	P	2240	R	P2240R	Likely pathogenic	1	1	39	54
MUT:ANKRD17:Pro2589Ala	PROT:O75179	ANKRD17	P	2589	A	P2589A	Benign	0	1	39	174
MUT:ANKRD17:Pro959His	PROT:O75179	ANKRD17	P	959	H	P959H	Likely benign	0	1	39	156
MUT:ANKRD17:Ser1155Thr	PROT:O75179	ANKRD17	S	1155	T	S1155T	Likely pathogenic	1	1	39	5
MUT:ANKRD17:Ser1880Pro	PROT:O75179	ANKRD17	S	1880	P	S1880P	Likely pathogenic	1	1	39	60
MUT:ANKRD17:Ser2126Cys	PROT:O75179	ANKRD17	S	2126	C	S2126C	Likely benign	0	1	39	135
MUT:ANKRD17:Ser2192Pro	PROT:O75179	ANKRD17	S	2192	P	S2192P	Likely benign	0	1	39	102
MUT:ANKRD17:Ser2222Leu	PROT:O75179	ANKRD17	S	2222	L	S2222L	Likely benign	0	1	39	72
MUT:ANKRD17:Ser2376Thr	PROT:O75179	ANKRD17	S	2376	T	S2376T	Likely benign	0	1	39	0
MUT:ANKRD17:Ser2392Leu	PROT:O75179	ANKRD17	S	2392	L	S2392L	Likely benign	0	1	39	13
MUT:ANKRD17:Ser42Gly	PROT:O75179	ANKRD17	S	42	G	S42G	Likely benign	0	1	39	114
MUT:ANKRD17:Ser92Thr	PROT:O75179	ANKRD17	S	92	T	S92T	Likely benign	0	1	39	64
MUT:ANKRD17:Thr111Ile	PROT:O75179	ANKRD17	T	111	I	T111I	Likely benign	0	1	39	45
MUT:ANKRD17:Thr1970Ala	PROT:O75179	ANKRD17	T	1970	A	T1970A	Likely benign	0	1	39	21
MUT:ANKRD17:Thr2584Met	PROT:O75179	ANKRD17	T	2584	M	T2584M	Likely benign	0	1	39	169
MUT:ANKRD17:Val1166Met	PROT:O75179	ANKRD17	V	1166	M	V1166M	Likely benign	0	1	39	16
MUT:ANKRD17:Val2407Ile	PROT:O75179	ANKRD17	V	2407	I	V2407I	Likely benign	0	1	39	2
MUT:ANKRD17:Val612Ala	PROT:O75179	ANKRD17	V	612	A	V612A	Likely benign	0	1	39	83
MUT:ANKRD18A:Ile969Val	PROT:Q8IVF6	ANKRD18A	I	969	V	I969V	Benign	0	3	6	146
MUT:ANKS3:Cys168Gly	PROT:Q6ZW76	ANKS3	C	168	G	C168G	Likely benign	0	8	13	57
MUT:ANKS3:Ser582Leu	PROT:Q6ZW76	ANKS3	S	582	L	S582L	Likely benign	0	1	13	69
MUT:ANKS6:Ala220Thr	PROT:Q68DC2	ANKS6	A	220	T	A220T	Benign	0	1	10	27
MUT:ANKS6:Ala312Pro	PROT:Q68DC2	ANKS6	A	312	P	A312P	Likely pathogenic	1	1	10	43
MUT:ANKS6:Ala589Val	PROT:Q68DC2	ANKS6	A	589	V	A589V	Likely benign	0	1	10	28
MUT:ANKS6:Arg222Trp	PROT:Q68DC2	ANKS6	R	222	W	R222W	Benign/Likely benign	0	1	10	25
MUT:ANKS6:Arg578Cys	PROT:Q68DC2	ANKS6	R	578	C	R578C	Likely benign	0	1	10	27
MUT:ANKS6:Asn522Ser	PROT:Q68DC2	ANKS6	N	522	S	N522S	Benign/Likely benign	0	2	10	29
MUT:ANKS6:Asp313Asn	PROT:Q68DC2	ANKS6	D	313	N	D313N	Benign	0	1	10	44
MUT:ANKS6:Glu490Lys	PROT:Q68DC2	ANKS6	E	490	K	E490K	Benign	0	1	10	52
MUT:ANKS6:Gly184Ser	PROT:Q68DC2	ANKS6	G	184	S	G184S	Likely benign	0	1	10	63
MUT:ANKS6:Gly602Ser	PROT:Q68DC2	ANKS6	G	602	S	G602S	Likely benign	0	1	10	15
MUT:ANKS6:Lys506Arg	PROT:Q68DC2	ANKS6	K	506	R	K506R	Likely benign	0	1	10	45
MUT:ANKS6:Lys714Asn	PROT:Q68DC2	ANKS6	K	714	N	K714N	Likely pathogenic	1	2	10	10
MUT:ANKS6:Pro564Thr	PROT:Q68DC2	ANKS6	P	564	T	P564T	Likely benign	0	1	10	13
MUT:ANKS6:Pro735Ala	PROT:Q68DC2	ANKS6	P	735	A	P735A	Benign/Likely benign	0	1	10	1
MUT:ANKS6:Ser185Asn	PROT:Q68DC2	ANKS6	S	185	N	S185N	Likely benign	0	1	10	62
MUT:ANKS6:Val610Ile	PROT:Q68DC2	ANKS6	V	610	I	V610I	Benign	0	1	10	7
MUT:ANKS6:Val644Ile	PROT:Q68DC2	ANKS6	V	644	I	V644I	Benign	0	1	10	13
MUT:ANKZF1:Arg297Cys	PROT:Q9H8Y5	ANKZF1	R	297	C	R297C	Benign	0	1	10	13
MUT:ANKZF1:Arg585Gln	PROT:Q9H8Y5	ANKZF1	R	585	Q	R585Q	Benign/Likely benign	0	1	10	22
MUT:ANKZF1:Arg59Ser	PROT:Q9H8Y5	ANKZF1	R	59	S	R59S	Benign	0	1	10	57
MUT:ANKZF1:Arg617Gln	PROT:Q9H8Y5	ANKZF1	R	617	Q	R617Q	Benign	0	1	10	10
MUT:ANKZF1:Glu147Lys	PROT:Q9H8Y5	ANKZF1	E	147	K	E147K	Benign	0	1	10	111
MUT:ANKZF1:Glu58Ala	PROT:Q9H8Y5	ANKZF1	E	58	A	E58A	Benign/Likely benign	0	1	10	56
MUT:ANKZF1:Glu86Lys	PROT:Q9H8Y5	ANKZF1	E	86	K	E86K	Likely benign	0	1	10	84
MUT:ANKZF1:Pro570Ser	PROT:Q9H8Y5	ANKZF1	P	570	S	P570S	Benign	0	1	10	37
MUT:ANKZF1:Pro676Leu	PROT:Q9H8Y5	ANKZF1	P	676	L	P676L	Benign	0	1	10	4
MUT:ANKZF1:Ser137Thr	PROT:Q9H8Y5	ANKZF1	S	137	T	S137T	Benign	0	1	10	121
MUT:ANKZF1:Ser566Cys	PROT:Q9H8Y5	ANKZF1	S	566	C	S566C	Benign	0	1	10	33
MUT:ANKZF1:Thr457Ile	PROT:Q9H8Y5	ANKZF1	T	457	I	T457I	Benign	0	1	10	59
MUT:ANKZF1:Tyr272Cys	PROT:Q9H8Y5	ANKZF1	Y	272	C	Y272C	Benign	0	10	10	1
MUT:ANO6:Gln255Pro	PROT:Q4KMQ2	ANO6	Q	255	P	Q255P	Likely benign	0	1	16	79
MUT:ANO6:Gly794Glu	PROT:Q4KMQ2	ANO6	G	794	E	G794E	Likely benign	0	1	16	1
MUT:ANO6:Met886Val	PROT:Q4KMQ2	ANO6	M	886	V	M886V	Benign/Likely benign	0	1	16	2
MUT:ANO6:Val761Ile	PROT:Q4KMQ2	ANO6	V	761	I	V761I	Likely benign	0	1	16	32
MUT:ANO6:Val844Ile	PROT:Q4KMQ2	ANO6	V	844	I	V844I	Likely benign	0	1	16	27
MUT:ANOS1:Arg297Gln	PROT:P23352	ANOS1	R	297	Q	R297Q	Benign	0	1	2	38
MUT:ANOS1:Arg33Pro	PROT:P23352	ANOS1	R	33	P	R33P	Benign	0	1	2	226
MUT:ANOS1:Asn155Asp	PROT:P23352	ANOS1	N	155	D	N155D	Benign/Likely benign	0	1	2	104
MUT:ANOS1:Asn304Ser	PROT:P23352	ANOS1	N	304	S	N304S	Benign	0	2	2	45
MUT:ANOS1:Asn623Ser	PROT:P23352	ANOS1	N	623	S	N623S	Likely benign	0	1	2	53
MUT:ANOS1:Cys49Arg	PROT:P23352	ANOS1	C	49	R	C49R	Likely pathogenic	1	1	2	210
MUT:ANOS1:Cys86Ser	PROT:P23352	ANOS1	C	86	S	C86S	Pathogenic/Likely pathogenic	1	2	2	173
MUT:ANOS1:Gln635Pro	PROT:P23352	ANOS1	Q	635	P	Q635P	Likely pathogenic	1	1	2	41
MUT:ANOS1:Glu514Lys	PROT:P23352	ANOS1	E	514	K	E514K	Pathogenic	1	1	2	162
MUT:ANOS1:Glu539Lys	PROT:P23352	ANOS1	E	539	K	E539K	Benign/Likely benign	0	1	2	137
MUT:ANOS1:Gly28Asp	PROT:P23352	ANOS1	G	28	D	G28D	Likely benign	0	1	2	231
MUT:ANOS1:Gly641Arg	PROT:P23352	ANOS1	G	641	R	G641R	Likely benign	0	1	2	35
MUT:ANOS1:Gly72Ser	PROT:P23352	ANOS1	G	72	S	G72S	Benign	0	2	2	187
MUT:ANOS1:Ile559Val	PROT:P23352	ANOS1	I	559	V	I559V	Likely benign	0	1	2	117
MUT:ANOS1:Lys185Asn	PROT:P23352	ANOS1	K	185	N	K185N	Benign/Likely benign	0	2	2	74
MUT:ANOS1:Met1Leu	PROT:P23352	ANOS1	M	1	L	M1L	Pathogenic	1	1	2	258
MUT:ANOS1:Met1Val	PROT:P23352	ANOS1	M	1	V	M1V	Pathogenic	1	2	2	258
MUT:ANOS1:Met582Thr	PROT:P23352	ANOS1	M	582	T	M582T	Benign/Likely benign	0	1	2	94
MUT:ANOS1:Phe558Ser	PROT:P23352	ANOS1	F	558	S	F558S	Benign	0	1	2	118
MUT:ANOS1:Pro291Thr	PROT:P23352	ANOS1	P	291	T	P291T	Benign	0	1	2	32
MUT:ANOS1:Pro428Leu	PROT:P23352	ANOS1	P	428	L	P428L	Benign/Likely benign	0	1	2	169
MUT:ANOS1:Pro504Leu	PROT:P23352	ANOS1	P	504	L	P504L	Benign	0	1	2	172
MUT:ANOS1:Pro639Ala	PROT:P23352	ANOS1	P	639	A	P639A	Likely benign	0	1	2	37
MUT:ANOS1:Ser141Asn	PROT:P23352	ANOS1	S	141	N	S141N	Likely pathogenic	1	1	2	118
MUT:ANOS1:Ser511Tyr	PROT:P23352	ANOS1	S	511	Y	S511Y	Benign	0	1	2	165
MUT:ANOS1:Ser609Tyr	PROT:P23352	ANOS1	S	609	Y	S609Y	Likely benign	0	1	2	67
MUT:ANOS1:Trp237Arg	PROT:P23352	ANOS1	W	237	R	W237R	Likely pathogenic	1	1	2	22
MUT:ANOS1:Trp332Cys	PROT:P23352	ANOS1	W	332	C	W332C	Likely benign	0	1	2	73
MUT:ANOS1:Val311Ile	PROT:P23352	ANOS1	V	311	I	V311I	Likely benign	0	1	2	52
MUT:ANOS1:Val543Ile	PROT:P23352	ANOS1	V	543	I	V543I	Benign/Likely benign	0	1	2	133
MUT:ANOS1:Val587Leu	PROT:P23352	ANOS1	V	587	L	V587L	Benign/Likely benign	0	2	2	89
MUT:ANPEP:Ala311Val	PROT:P15144	ANPEP	A	311	V	A311V	Benign	0	2	8	102
MUT:ANPEP:Ala422Gly	PROT:P15144	ANPEP	A	422	G	A422G	Likely benign	0	2	8	29
MUT:ANPEP:Leu258Ile	PROT:P15144	ANPEP	L	258	I	L258I	Likely benign	0	1	8	49
MUT:ANPEP:Val620Leu	PROT:P15144	ANPEP	V	620	L	V620L	Likely benign	0	1	8	50
MUT:ANTXR1:Arg7Lys	PROT:Q9H6X2	ANTXR1	R	7	K	R7K	Benign	0	1	14	74
MUT:ANTXR1:Gly384Ser	PROT:Q9H6X2	ANTXR1	G	384	S	G384S	Likely pathogenic	1	1	14	10
MUT:ANTXR1:Pro506Leu	PROT:Q9H6X2	ANTXR1	P	506	L	P506L	Benign/Likely benign	0	1	14	57
MUT:ANTXR1:Ser504Thr	PROT:Q9H6X2	ANTXR1	S	504	T	S504T	Likely benign	0	1	14	59
MUT:ANTXR2:Ala357Pro	PROT:P58335	ANTXR2	A	357	P	A357P	Benign	0	1	17	13
MUT:ANTXR2:Arg111Cys	PROT:P58335	ANTXR2	R	111	C	R111C	Benign/Likely benign	0	1	17	2
MUT:ANTXR2:Arg79Ile	PROT:P58335	ANTXR2	R	79	I	R79I	Likely pathogenic	1	1	17	2
MUT:ANTXR2:Cys218Arg	PROT:P58335	ANTXR2	C	218	R	C218R	Pathogenic/Likely pathogenic	1	2	17	71
MUT:ANTXR2:Gly105Asp	PROT:P58335	ANTXR2	G	105	D	G105D	Pathogenic	1	1	17	8
MUT:ANTXR2:Gly306Arg	PROT:P58335	ANTXR2	G	306	R	G306R	Likely benign	0	2	17	64
MUT:ANTXR2:Ile189Thr	PROT:P58335	ANTXR2	I	189	T	I189T	Pathogenic	1	1	17	42
MUT:ANTXR2:Leu329Arg	PROT:P58335	ANTXR2	L	329	R	L329R	Pathogenic	1	1	17	41
MUT:ANTXR2:Leu45Pro	PROT:P58335	ANTXR2	L	45	P	L45P	Pathogenic/Likely pathogenic	1	1	17	36
MUT:ANTXR2:Ser81Pro	PROT:P58335	ANTXR2	S	81	P	S81P	Likely pathogenic	1	1	17	0
MUT:ANTXR2:Tyr381Cys	PROT:P58335	ANTXR2	Y	381	C	Y381C	Pathogenic	1	1	17	0
MUT:ANTXR2:Val270Ile	PROT:P58335	ANTXR2	V	270	I	V270I	Benign/Likely benign	0	1	17	100
MUT:AP1G1:Ala210Val	PROT:O43747	AP1G1	A	210	V	A210V	Likely benign	0	1	11	30
MUT:AP1G1:Arg15Trp	PROT:O43747	AP1G1	R	15	W	R15W	Likely pathogenic	1	1	11	14
MUT:AP1G1:Arg35Gln	PROT:O43747	AP1G1	R	35	Q	R35Q	Pathogenic	1	1	11	6
MUT:AP1G1:Arg35Trp	PROT:O43747	AP1G1	R	35	W	R35W	Pathogenic	1	1	11	6
MUT:AP1G1:Arg379Gln	PROT:O43747	AP1G1	R	379	Q	R379Q	Likely benign	0	1	11	17
MUT:AP1G1:Arg434Cys	PROT:O43747	AP1G1	R	434	C	R434C	Likely benign	0	1	11	72
MUT:AP1G1:Arg458Cys	PROT:O43747	AP1G1	R	458	C	R458C	Likely benign	0	1	11	96
MUT:AP1G1:Arg543Gln	PROT:O43747	AP1G1	R	543	Q	R543Q	Likely benign	0	1	11	181
MUT:AP1G1:Asn150Ile	PROT:O43747	AP1G1	N	150	I	N150I	Likely benign	0	1	11	1
MUT:AP1G1:Asn698Ser	PROT:O43747	AP1G1	N	698	S	N698S	Likely benign	0	1	11	91
MUT:AP1G1:Asn801His	PROT:O43747	AP1G1	N	801	H	N801H	Likely benign	0	1	11	1
MUT:AP1G1:Asp662Asn	PROT:O43747	AP1G1	D	662	N	D662N	Likely benign	0	1	11	127
MUT:AP1G1:Ile419Val	PROT:O43747	AP1G1	I	419	V	I419V	Likely benign	0	1	11	57
MUT:AP1G1:Ile498Val	PROT:O43747	AP1G1	I	498	V	I498V	Likely benign	0	1	11	136
MUT:AP1G1:Ile550Met	PROT:O43747	AP1G1	I	550	M	I550M	Likely benign	0	1	11	188
MUT:AP1G1:Leu111Val	PROT:O43747	AP1G1	L	111	V	L111V	Likely benign	0	1	11	33
MUT:AP1G1:Leu464Val	PROT:O43747	AP1G1	L	464	V	L464V	Likely benign	0	1	11	102
MUT:AP1G1:Leu527Phe	PROT:O43747	AP1G1	L	527	F	L527F	Likely benign	0	1	11	165
MUT:AP1G1:Leu581Phe	PROT:O43747	AP1G1	L	581	F	L581F	Likely benign	0	1	11	208
MUT:AP1G1:Pro243His	PROT:O43747	AP1G1	P	243	H	P243H	Pathogenic	1	1	11	63
MUT:AP1G1:Pro684Ser	PROT:O43747	AP1G1	P	684	S	P684S	Likely benign	0	1	11	105
MUT:AP1G1:Ser682Ala	PROT:O43747	AP1G1	S	682	A	S682A	Likely benign	0	1	11	107
MUT:AP1G1:Thr179Ser	PROT:O43747	AP1G1	T	179	S	T179S	Likely benign	0	1	11	1
MUT:AP1G1:Thr519Asn	PROT:O43747	AP1G1	T	519	N	T519N	Likely benign	0	1	11	157
MUT:AP1G1:Thr519Ser	PROT:O43747	AP1G1	T	519	S	T519S	Likely benign	0	1	11	157
MUT:AP1G1:Thr596Ala	PROT:O43747	AP1G1	T	596	A	T596A	Likely benign	0	1	11	193
MUT:AP1G1:Thr596Ile	PROT:O43747	AP1G1	T	596	I	T596I	Likely benign	0	1	11	193
MUT:AP1G1:Tyr432His	PROT:O43747	AP1G1	Y	432	H	Y432H	Likely benign	0	1	11	70
MUT:AP1G1:Val336Ile	PROT:O43747	AP1G1	V	336	I	V336I	Likely benign	0	1	11	14
MUT:AP1G1:Val599Ala	PROT:O43747	AP1G1	V	599	A	V599A	Likely benign	0	1	11	190
MUT:AP1S2:Val38Ile	PROT:P56377	AP1S2	V	38	I	V38I	Benign/Likely benign	0	1	3	13
MUT:AP2M1:Arg170Trp	PROT:Q96CW1	AP2M1	R	170	W	R170W	Pathogenic/Likely pathogenic	1	1	11	3
MUT:AP2M1:Val177Leu	PROT:Q96CW1	AP2M1	V	177	L	V177L	Likely benign	0	1	11	10
MUT:AP3D1:Arg946Trp	PROT:O14617	AP3D1	R	946	W	R946W	Likely benign	0	1	26	15
MUT:AP3D1:Asp1128Asn	PROT:O14617	AP3D1	D	1128	N	D1128N	Likely benign	0	1	26	4
MUT:AP3D1:Glu647Asp	PROT:O14617	AP3D1	E	647	D	E647D	Likely benign	0	1	26	11
MUT:AP3D1:Ile1134Val	PROT:O14617	AP3D1	I	1134	V	I1134V	Benign	0	1	26	2
MUT:AP3D1:Ile818Val	PROT:O14617	AP3D1	I	818	V	I818V	Likely benign	0	1	26	2
MUT:AP4M1:Arg227His	PROT:O00189	AP4M1	R	227	H	R227H	Likely pathogenic	1	1	11	11
MUT:AP4M1:Arg271His	PROT:O00189	AP4M1	R	271	H	R271H	Benign	0	1	11	33
MUT:AP4M1:Arg413Leu	PROT:O00189	AP4M1	R	413	L	R413L	Likely benign	0	1	11	31
MUT:AP4M1:Asp23Gly	PROT:O00189	AP4M1	D	23	G	D23G	Benign	0	1	11	5
MUT:AP4M1:Cys319Arg	PROT:O00189	AP4M1	C	319	R	C319R	Pathogenic/Likely pathogenic	1	2	11	5
MUT:AP4M1:Cys319Tyr	PROT:O00189	AP4M1	C	319	Y	C319Y	Likely pathogenic	1	1	11	5
MUT:AP4M1:Glu193Lys	PROT:O00189	AP4M1	E	193	K	E193K	Pathogenic/Likely pathogenic	1	2	11	3
MUT:AP4M1:Gly243Ser	PROT:O00189	AP4M1	G	243	S	G243S	Pathogenic	1	1	11	5
MUT:AP4M1:Gly247Ala	PROT:O00189	AP4M1	G	247	A	G247A	Benign/Likely benign	0	1	11	9
MUT:AP4M1:Leu298Pro	PROT:O00189	AP4M1	L	298	P	L298P	Pathogenic	1	1	11	26
MUT:AP4M1:Tyr284Ser	PROT:O00189	AP4M1	Y	284	S	Y284S	Likely pathogenic	1	2	11	40
MUT:APBA2:Ala57Val	PROT:Q99767	APBA2	A	57	V	A57V	Likely benign	0	1	5	46
MUT:APBA2:Arg52Gln	PROT:Q99767	APBA2	R	52	Q	R52Q	Benign	0	1	5	41
MUT:APBA2:Asn722Ser	PROT:Q99767	APBA2	N	722	S	N722S	Likely benign	0	1	5	242
MUT:APBA2:Pro168Leu	PROT:Q99767	APBA2	P	168	L	P168L	Benign	0	1	5	40
MUT:APBA2:Ser144Leu	PROT:Q99767	APBA2	S	144	L	S144L	Benign	0	1	5	64
MUT:APBA2:Ser55Asn	PROT:Q99767	APBA2	S	55	N	S55N	Likely benign	0	1	5	44
MUT:APC2:Ala1423Glu	PROT:O95996	APC2	A	1423	E	A1423E	Likely benign	0	1	2	164
MUT:APC2:Ala2057Thr	PROT:O95996	APC2	A	2057	T	A2057T	Benign	0	1	2	470
MUT:APC2:Ala327Gly	PROT:O95996	APC2	A	327	G	A327G	Likely benign	0	1	2	741
MUT:APC2:Ala531Val	PROT:O95996	APC2	A	531	V	A531V	Likely benign	0	1	2	537
MUT:APC2:Ala6Val	PROT:O95996	APC2	A	6	V	A6V	Likely benign	0	1	2	1062
MUT:APC2:Ala932Thr	PROT:O95996	APC2	A	932	T	A932T	Likely benign	0	1	2	136
MUT:APC2:Arg1471Gln	PROT:O95996	APC2	R	1471	Q	R1471Q	Likely benign	0	1	2	116
MUT:APC2:Arg2058Pro	PROT:O95996	APC2	R	2058	P	R2058P	Likely benign	0	1	2	471
MUT:APC2:Arg391Gln	PROT:O95996	APC2	R	391	Q	R391Q	Likely benign	0	1	2	677
MUT:APC2:Arg487His	PROT:O95996	APC2	R	487	H	R487H	Likely benign	0	1	2	581
MUT:APC2:Asp501Glu	PROT:O95996	APC2	D	501	E	D501E	Likely benign	0	1	2	567
MUT:APC2:Gly112Ser	PROT:O95996	APC2	G	112	S	G112S	Likely benign	0	1	2	956
MUT:APC2:Gly2023Asp	PROT:O95996	APC2	G	2023	D	G2023D	Likely benign	0	1	2	436
MUT:APC2:Gly323Arg	PROT:O95996	APC2	G	323	R	G323R	Benign	0	1	2	745
MUT:APC2:Ile222Thr	PROT:O95996	APC2	I	222	T	I222T	Likely pathogenic	1	1	2	846
MUT:APC2:Met1439Val	PROT:O95996	APC2	M	1439	V	M1439V	Likely benign	0	1	2	148
MUT:APC2:Phe140Ser	PROT:O95996	APC2	F	140	S	F140S	Likely benign	0	1	2	928
MUT:APC2:Pro1415Ala	PROT:O95996	APC2	P	1415	A	P1415A	Likely benign	0	1	2	172
MUT:APC2:Pro1551Ala	PROT:O95996	APC2	P	1551	A	P1551A	Likely benign	0	1	2	36
MUT:APC2:Pro1799Leu	PROT:O95996	APC2	P	1799	L	P1799L	Benign/Likely benign	0	1	2	212
MUT:APC2:Pro2207Leu	PROT:O95996	APC2	P	2207	L	P2207L	Pathogenic	1	1	2	620
MUT:APC2:Ser108Arg	PROT:O95996	APC2	S	108	R	S108R	Likely benign	0	1	2	960
MUT:APC2:Ser108Ile	PROT:O95996	APC2	S	108	I	S108I	Likely benign	0	1	2	960
MUT:APC2:Ser2121Pro	PROT:O95996	APC2	S	2121	P	S2121P	Likely benign	0	1	2	534
MUT:APC2:Thr1538Lys	PROT:O95996	APC2	T	1538	K	T1538K	Likely benign	0	1	2	49
MUT:APC2:Val2196Phe	PROT:O95996	APC2	V	2196	F	V2196F	Likely benign	0	1	2	609
MUT:APC2:Val534Met	PROT:O95996	APC2	V	534	M	V534M	Likely benign	0	1	2	534
MUT:APEX1:Asp148Glu	PROT:P27695	APEX1	D	148	E	D148E	Benign	0	1	10	23
MUT:APEX1:Glu149Lys	PROT:P27695	APEX1	E	149	K	E149K	Likely benign	0	1	10	22
MUT:APEX1:Gly241Arg	PROT:P27695	APEX1	G	241	R	G241R	Benign	0	1	10	13
MUT:APEX1:Ile64Val	PROT:P27695	APEX1	I	64	V	I64V	Benign	0	5	10	45
MUT:APOA1:Ala199Pro	PROT:P02647	APOA1	A	199	P	A199P	Pathogenic	1	1	12	8
MUT:APOA1:Ala61Thr	PROT:P02647	APOA1	A	61	T	A61T	Benign	0	4	12	1
MUT:APOA1:Arg173Pro	PROT:P02647	APOA1	R	173	P	R173P	Pathogenic	1	1	12	7
MUT:APOA1:Arg197Cys	PROT:P02647	APOA1	R	197	C	R197C	Pathogenic	1	1	12	6
MUT:APOA1:Asp181Gly	PROT:P02647	APOA1	D	181	G	D181G	Likely pathogenic	1	1	12	4
MUT:APOA1:Asp44Tyr	PROT:P02647	APOA1	D	44	Y	D44Y	Pathogenic	1	1	12	9
MUT:APOA1:Gly50Arg	PROT:P02647	APOA1	G	50	R	G50R	Pathogenic	1	2	12	3
MUT:APOA1:Leu198Ser	PROT:P02647	APOA1	L	198	S	L198S	Pathogenic	1	1	12	7
MUT:APOA1:Leu84Arg	PROT:P02647	APOA1	L	84	R	L84R	Pathogenic	1	1	12	24
MUT:APOA1:Pro27Arg	PROT:P02647	APOA1	P	27	R	P27R	Pathogenic	1	1	12	26
MUT:APOA1:Trp74Arg	PROT:P02647	APOA1	W	74	R	W74R	Pathogenic	1	1	12	14
MUT:APOA1:Trp96Arg	PROT:P02647	APOA1	W	96	R	W96R	Pathogenic	1	1	12	36
MUT:APOA1:Val180Glu	PROT:P02647	APOA1	V	180	E	V180E	Pathogenic	1	1	12	5
MUT:APOA1:Val43Leu	PROT:P02647	APOA1	V	43	L	V43L	Likely benign	0	2	12	10
MUT:APOA4:Asn127Lys	PROT:P06727	APOA4	N	127	K	N127K	Likely benign	0	1	5	47
MUT:APOA4:Asp33Asn	PROT:P06727	APOA4	D	33	N	D33N	Pathogenic	1	1	5	32
MUT:APOA4:Gln380His	PROT:P06727	APOA4	Q	380	H	Q380H	Benign	0	1	5	121
MUT:APOA4:Glu250Lys	PROT:P06727	APOA4	E	250	K	E250K	Benign	0	1	5	7
MUT:APOA4:Leu66Val	PROT:P06727	APOA4	L	66	V	L66V	Pathogenic	1	1	5	1
MUT:APOA4:Val13Met	PROT:P06727	APOA4	V	13	M	V13M	Benign	0	1	5	52
MUT:APOA5:Arg223Cys	PROT:Q6Q788	APOA5	R	223	C	R223C	Likely pathogenic	1	1	1	164
MUT:APOA5:Ser19Trp	PROT:Q6Q788	APOA5	S	19	W	S19W	Benign/Likely benign	0	1	1	40
MUT:APOB:Ala251Thr	PROT:P04114	APOB	A	251	T	A251T	Benign/Likely benign	0	2	41	28
MUT:APOB:Ala3396Thr	PROT:P04114	APOB	A	3396	T	A3396T	Likely pathogenic	1	2	41	108
MUT:APOB:Ala618Val	PROT:P04114	APOB	A	618	V	A618V	Benign/Likely benign	0	5	41	56
MUT:APOB:Ala683Ser	PROT:P04114	APOB	A	683	S	A683S	Benign/Likely benign	0	1	41	57
MUT:APOB:Arg1386Gln	PROT:P04114	APOB	R	1386	Q	R1386Q	Benign	0	1	41	328
MUT:APOB:Arg1513Gln	PROT:P04114	APOB	R	1513	Q	R1513Q	Likely benign	0	1	41	201
MUT:APOB:Arg3527Gln	PROT:P04114	APOB	R	3527	Q	R3527Q	Pathogenic/Likely pathogenic	1	7	41	99
MUT:APOB:Arg3527Leu	PROT:P04114	APOB	R	3527	L	R3527L	Likely pathogenic	1	1	41	99
MUT:APOB:Arg3527Trp	PROT:P04114	APOB	R	3527	W	R3527W	Pathogenic/Likely pathogenic	1	6	41	99
MUT:APOB:Arg3638Gln	PROT:P04114	APOB	R	3638	Q	R3638Q	Benign/Likely benign	0	4	41	12
MUT:APOB:Arg4270Thr	PROT:P04114	APOB	R	4270	T	R4270T	Benign	0	4	41	41
MUT:APOB:Arg490Trp	PROT:P04114	APOB	R	490	W	R490W	Pathogenic/Likely pathogenic	1	3	41	30
MUT:APOB:Asn1914Ser	PROT:P04114	APOB	N	1914	S	N1914S	Benign/Likely benign	0	3	41	32
MUT:APOB:Asn2785His	PROT:P04114	APOB	N	2785	H	N2785H	Benign/Likely benign	0	4	41	74
MUT:APOB:Asn468Asp	PROT:P04114	APOB	N	468	D	N468D	Likely benign	0	1	41	52
MUT:APOB:Asp1113His	PROT:P04114	APOB	D	1113	H	D1113H	Benign/Likely benign	0	3	41	166
MUT:APOB:Gln3432Glu	PROT:P04114	APOB	Q	3432	E	Q3432E	Benign/Likely benign	0	2	41	144
MUT:APOB:Glu202Asp	PROT:P04114	APOB	E	202	D	E202D	Benign/Likely benign	0	2	41	21
MUT:APOB:Glu4181Lys	PROT:P04114	APOB	E	4181	K	E4181K	Benign/Likely benign	0	4	41	41
MUT:APOB:His1923Arg	PROT:P04114	APOB	H	1923	R	H1923R	Benign/Likely benign	0	3	41	23
MUT:APOB:His3603Arg	PROT:P04114	APOB	H	3603	R	H3603R	Likely benign	0	1	41	23
MUT:APOB:Ile1839Thr	PROT:P04114	APOB	I	1839	T	I1839T	Likely pathogenic	1	1	41	1
MUT:APOB:Ile4407Thr	PROT:P04114	APOB	I	4407	T	I4407T	Pathogenic	1	1	41	100
MUT:APOB:Leu1358Val	PROT:P04114	APOB	L	1358	V	L1358V	Likely benign	0	1	41	356
MUT:APOB:Lys3394Asn	PROT:P04114	APOB	K	3394	N	K3394N	Pathogenic/Likely pathogenic	1	2	41	106
MUT:APOB:Pro2739Leu	PROT:P04114	APOB	P	2739	L	P2739L	Benign/Likely benign	0	4	41	32
MUT:APOB:Ser1524Phe	PROT:P04114	APOB	S	1524	F	S1524F	Likely pathogenic	1	1	41	190
MUT:APOB:Ser1613Thr	PROT:P04114	APOB	S	1613	T	S1613T	Likely benign	0	1	41	101
MUT:APOB:Ser2378Arg	PROT:P04114	APOB	S	2378	R	S2378R	Likely benign	0	1	41	113
MUT:APOB:Ser36Thr	PROT:P04114	APOB	S	36	T	S36T	Likely benign	0	1	41	121
MUT:APOB:Ser4338Asn	PROT:P04114	APOB	S	4338	N	S4338N	Benign	0	5	41	109
MUT:APOB:Thr194Met	PROT:P04114	APOB	T	194	M	T194M	Benign/Likely benign	0	4	41	29
MUT:APOB:Thr3940Met	PROT:P04114	APOB	T	3940	M	T3940M	Benign/Likely benign	0	1	41	18
MUT:APOB:Thr498Ile	PROT:P04114	APOB	T	498	I	T498I	Likely benign	0	1	41	22
MUT:APOB:Thr98Ile	PROT:P04114	APOB	T	98	I	T98I	Benign/Likely benign	0	5	41	59
MUT:APOB:Tyr1885Cys	PROT:P04114	APOB	Y	1885	C	Y1885C	Likely benign	0	1	41	45
MUT:APOB:Tyr3462Cys	PROT:P04114	APOB	Y	3462	C	Y3462C	Benign/Likely benign	0	1	41	164
MUT:APOB:Val352Phe	PROT:P04114	APOB	V	352	F	V352F	Likely pathogenic	1	1	41	129
MUT:APOC2:Glu60Lys	PROT:P02655	APOC2	E	60	K	E60K	Benign/Likely benign	0	2	3	10
MUT:APOC2:Met1Val	PROT:P02655	APOC2	M	1	V	M1V	Likely pathogenic	1	2	3	42
MUT:APOC2:Trp48Arg	PROT:P02655	APOC2	W	48	R	W48R	Pathogenic	1	2	3	1
MUT:APOE:Arg108Gln	PROT:P02649	APOE	R	108	Q	R108Q	Likely benign	0	1	7	39
MUT:APOE:Arg152Gln	PROT:P02649	APOE	R	152	Q	R152Q	Pathogenic	1	1	7	5
MUT:APOE:Arg154His	PROT:P02649	APOE	R	154	H	R154H	Likely pathogenic	1	1	7	3
MUT:APOE:Arg154Leu	PROT:P02649	APOE	R	154	L	R154L	Likely pathogenic	1	1	7	3
MUT:APOE:Arg154Ser	PROT:P02649	APOE	R	154	S	R154S	Likely pathogenic	1	2	7	3
MUT:APOE:Arg160Cys	PROT:P02649	APOE	R	160	C	R160C	Likely pathogenic	1	1	7	3
MUT:APOE:Arg163Pro	PROT:P02649	APOE	R	163	P	R163P	Pathogenic	1	1	7	6
MUT:APOE:Arg246Cys	PROT:P02649	APOE	R	246	C	R246C	Pathogenic	1	2	7	21
MUT:APOE:Arg292His	PROT:P02649	APOE	R	292	H	R292H	Pathogenic	1	1	7	25
MUT:APOE:Arg43Cys	PROT:P02649	APOE	R	43	C	R43C	Pathogenic/Likely pathogenic	1	1	7	17
MUT:APOE:Glu21Lys	PROT:P02649	APOE	E	21	K	E21K	Pathogenic	1	1	7	5
MUT:APOE:Gly183Ala	PROT:P02649	APOE	G	183	A	G183A	Likely pathogenic	1	1	7	3
MUT:APOE:Lys164Gln	PROT:P02649	APOE	K	164	Q	K164Q	Pathogenic	1	1	7	7
MUT:APOE:Lys164Glu	PROT:P02649	APOE	K	164	E	K164E	Pathogenic	1	1	7	7
MUT:APOL1:Arg255Lys	PROT:O14791	APOL1	R	255	K	R255K	Benign	0	1	3	52
MUT:APOL1:Arg284His	PROT:O14791	APOL1	R	284	H	R284H	Benign/Likely benign	0	1	3	23
MUT:APOL1:Glu256Gly	PROT:O14791	APOL1	E	256	G	E256G	Benign	0	1	3	51
MUT:APOL1:Gly270Asp	PROT:O14791	APOL1	G	270	D	G270D	Benign/Likely benign	0	1	3	37
MUT:APOL1:Met228Ile	PROT:O14791	APOL1	M	228	I	M228I	Benign	0	1	3	79
MUT:APOO:Ser15Cys	PROT:Q9BUR5	APOO	S	15	C	S15C	Likely benign	0	1	4	21
MUT:AQP1:Ala45Val	PROT:P29972	AQP1	A	45	V	A45V	Benign	0	1	4	112
MUT:AQP1:Ser196Cys	PROT:P29972	AQP1	S	196	C	S196C	Pathogenic	1	1	4	39
MUT:AQP1:Val107Ile	PROT:P29972	AQP1	V	107	I	V107I	Benign	0	1	4	50
MUT:AQP4:Ala215Thr	PROT:P55087	AQP4	A	215	T	A215T	Pathogenic	1	1	6	35
MUT:AQP4:Arg19Thr	PROT:P55087	AQP4	R	19	T	R19T	Likely benign	0	1	6	92
MUT:AQP4:Ile128Thr	PROT:P55087	AQP4	I	128	T	I128T	Likely benign	0	1	6	17
MUT:AQP4:Ser111Thr	PROT:P55087	AQP4	S	111	T	S111T	Likely pathogenic	1	1	6	0
MUT:AQP4:Thr289Met	PROT:P55087	AQP4	T	289	M	T289M	Likely benign	0	1	6	0
MUT:ARCN1:Ala6Ser	PROT:P48444	ARCN1	A	6	S	A6S	Benign	0	1	27	8
MUT:ARCN1:Arg257Ser	PROT:P48444	ARCN1	R	257	S	R257S	Likely benign	0	1	27	1
MUT:ARCN1:Arg312Gln	PROT:P48444	ARCN1	R	312	Q	R312Q	Benign	0	1	27	24
MUT:ARCN1:Ser251Phe	PROT:P48444	ARCN1	S	251	F	S251F	Benign/Likely benign	0	1	27	0
MUT:ARF1:Arg19Cys	PROT:P84077	ARF1	R	19	C	R19C	Likely pathogenic	1	1	11	16
MUT:ARF1:Arg99Cys	PROT:P84077	ARF1	R	99	C	R99C	Likely pathogenic	1	1	11	26
MUT:ARF1:Arg99His	PROT:P84077	ARF1	R	99	H	R99H	Pathogenic/Likely pathogenic	1	1	11	26
MUT:ARF1:Gly70Ser	PROT:P84077	ARF1	G	70	S	G70S	Likely pathogenic	1	1	11	3
MUT:ARF1:Lys127Glu	PROT:P84077	ARF1	K	127	E	K127E	Pathogenic	1	1	11	0
MUT:ARF1:Phe51Leu	PROT:P84077	ARF1	F	51	L	F51L	Pathogenic	1	1	11	7
MUT:ARF1:Pro131Arg	PROT:P84077	ARF1	P	131	R	P131R	Pathogenic	1	1	11	4
MUT:ARF1:Thr48Ile	PROT:P84077	ARF1	T	48	I	T48I	Likely pathogenic	1	1	11	10
MUT:ARF1:Tyr35Asp	PROT:P84077	ARF1	Y	35	D	Y35D	Pathogenic	1	1	11	0
MUT:ARF1:Tyr35His	PROT:P84077	ARF1	Y	35	H	Y35H	Pathogenic	1	1	11	0
MUT:ARFGAP2:Arg255Cys	PROT:Q8N6H7	ARFGAP2	R	255	C	R255C	Benign	0	1	33	18
MUT:ARFGAP2:Arg339His	PROT:Q8N6H7	ARFGAP2	R	339	H	R339H	Benign	0	1	33	1
MUT:ARFGAP2:Arg339Leu	PROT:Q8N6H7	ARFGAP2	R	339	L	R339L	Likely benign	0	1	33	1
MUT:ARFGAP2:Arg406Trp	PROT:Q8N6H7	ARFGAP2	R	406	W	R406W	Benign	0	1	33	6
MUT:ARFGAP2:Asn103Ser	PROT:Q8N6H7	ARFGAP2	N	103	S	N103S	Likely benign	0	1	33	36
MUT:ARFGAP2:Gly519Ser	PROT:Q8N6H7	ARFGAP2	G	519	S	G519S	Likely benign	0	1	33	6
MUT:ARFGAP2:Leu225Pro	PROT:Q8N6H7	ARFGAP2	L	225	P	L225P	Benign	0	1	33	12
MUT:ARFGEF1:Ala1483Ser	PROT:Q9Y6D6	ARFGEF1	A	1483	S	A1483S	Benign	0	6	36	75
MUT:ARFGEF1:Ala303Thr	PROT:Q9Y6D6	ARFGEF1	A	303	T	A303T	Likely benign	0	1	36	11
MUT:ARFGEF1:Ala46Val	PROT:Q9Y6D6	ARFGEF1	A	46	V	A46V	Benign	0	1	36	2
MUT:ARFGEF1:Arg14Trp	PROT:Q9Y6D6	ARFGEF1	R	14	W	R14W	Likely benign	0	1	36	9
MUT:ARFGEF1:Arg1662Cys	PROT:Q9Y6D6	ARFGEF1	R	1662	C	R1662C	Likely benign	0	1	36	32
MUT:ARFGEF1:Arg226Gln	PROT:Q9Y6D6	ARFGEF1	R	226	Q	R226Q	Likely benign	0	1	36	8
MUT:ARFGEF1:Asp1356Gly	PROT:Q9Y6D6	ARFGEF1	D	1356	G	D1356G	Likely benign	0	1	36	4
MUT:ARFGEF1:Asp287Glu	PROT:Q9Y6D6	ARFGEF1	D	287	E	D287E	Likely benign	0	1	36	1
MUT:ARFGEF1:Asp798Asn	PROT:Q9Y6D6	ARFGEF1	D	798	N	D798N	Pathogenic/Likely pathogenic	1	1	36	2
MUT:ARFGEF1:Glu1749Asp	PROT:Q9Y6D6	ARFGEF1	E	1749	D	E1749D	Likely benign	0	1	36	55
MUT:ARFGEF1:Glu802Asp	PROT:Q9Y6D6	ARFGEF1	E	802	D	E802D	Likely pathogenic	1	1	36	6
MUT:ARFGEF1:His228Gln	PROT:Q9Y6D6	ARFGEF1	H	228	Q	H228Q	Likely benign	0	1	36	6
MUT:ARFGEF1:His518Gln	PROT:Q9Y6D6	ARFGEF1	H	518	Q	H518Q	Likely pathogenic	1	1	36	115
MUT:ARFGEF1:Ile1180Arg	PROT:Q9Y6D6	ARFGEF1	I	1180	R	I1180R	Pathogenic	1	1	36	40
MUT:ARFGEF1:Ile1576Val	PROT:Q9Y6D6	ARFGEF1	I	1576	V	I1576V	Likely benign	0	1	36	1
MUT:ARFGEF1:Leu198Val	PROT:Q9Y6D6	ARFGEF1	L	198	V	L198V	Likely pathogenic	1	1	36	36
MUT:ARFGEF1:Met1152Val	PROT:Q9Y6D6	ARFGEF1	M	1152	V	M1152V	Likely benign	0	1	36	68
MUT:ARFGEF1:Met1369Thr	PROT:Q9Y6D6	ARFGEF1	M	1369	T	M1369T	Likely benign	0	1	36	17
MUT:ARFGEF1:Pro250Ala	PROT:Q9Y6D6	ARFGEF1	P	250	A	P250A	Likely benign	0	1	36	7
MUT:ARFGEF1:Ser1604Pro	PROT:Q9Y6D6	ARFGEF1	S	1604	P	S1604P	Likely benign	0	1	36	3
MUT:ARFGEF1:Thr1306Ile	PROT:Q9Y6D6	ARFGEF1	T	1306	I	T1306I	Likely benign	0	1	36	46
MUT:ARFGEF1:Thr296Ile	PROT:Q9Y6D6	ARFGEF1	T	296	I	T296I	Likely benign	0	1	36	6
MUT:ARFGEF2:Arg1092Ser	PROT:Q9Y6D5	ARFGEF2	R	1092	S	R1092S	Likely benign	0	1	46	13
MUT:ARFGEF2:Asp332Tyr	PROT:Q9Y6D5	ARFGEF2	D	332	Y	D332Y	Likely benign	0	1	46	14
MUT:ARFGEF2:Lys387Ile	PROT:Q9Y6D5	ARFGEF2	K	387	I	K387I	Likely benign	0	1	46	38
MUT:ARFGEF2:Thr597Met	PROT:Q9Y6D5	ARFGEF2	T	597	M	T597M	Likely benign	0	1	46	7
MUT:ARHGAP10:Asn625Ser	PROT:A1A4S6	ARHGAP10	N	625	S	N625S	Likely benign	0	1	9	18
MUT:ARHGAP10:Ile676Val	PROT:A1A4S6	ARHGAP10	I	676	V	I676V	Likely benign	0	1	9	33
MUT:ARHGAP21:Asn128Ser	PROT:Q5T5U3	ARHGAP21	N	128	S	N128S	Likely benign	0	3	58	71
MUT:ARHGAP21:Gly766Arg	PROT:Q5T5U3	ARHGAP21	G	766	R	G766R	Likely benign	0	5	58	11
MUT:ARHGAP21:Ile1164Arg	PROT:Q5T5U3	ARHGAP21	I	1164	R	I1164R	Likely pathogenic	1	1	58	49
MUT:ARHGAP24:Arg622His	PROT:Q8N264	ARHGAP24	R	622	H	R622H	Likely benign	0	1	13	45
MUT:ARHGAP24:Asp139Val	PROT:Q8N264	ARHGAP24	D	139	V	D139V	Benign	0	1	13	77
MUT:ARHGAP24:Gln359Arg	PROT:Q8N264	ARHGAP24	Q	359	R	Q359R	Benign/Likely benign	0	1	13	10
MUT:ARHGAP24:Gly342Glu	PROT:Q8N264	ARHGAP24	G	342	E	G342E	Likely benign	0	1	13	27
MUT:ARHGAP29:Arg798Gln	PROT:Q52LW3	ARHGAP29	R	798	Q	R798Q	Likely benign	0	1	44	37
MUT:ARHGAP29:Arg84His	PROT:Q52LW3	ARHGAP29	R	84	H	R84H	Benign	0	1	44	62
MUT:ARHGAP29:Arg955His	PROT:Q52LW3	ARHGAP29	R	955	H	R955H	Likely benign	0	1	44	6
MUT:ARHGAP29:Gly359Ala	PROT:Q52LW3	ARHGAP29	G	359	A	G359A	Likely benign	0	1	44	2
MUT:ARHGAP29:Ile89Val	PROT:Q52LW3	ARHGAP29	I	89	V	I89V	Likely benign	0	1	44	67
MUT:ARHGAP29:Met792Thr	PROT:Q52LW3	ARHGAP29	M	792	T	M792T	Likely benign	0	1	44	31
MUT:ARHGAP29:Ser996Thr	PROT:Q52LW3	ARHGAP29	S	996	T	S996T	Likely benign	0	1	44	0
MUT:ARHGAP29:Val197Met	PROT:Q52LW3	ARHGAP29	V	197	M	V197M	Likely benign	0	1	44	7
MUT:ARHGAP29:Val418Ile	PROT:Q52LW3	ARHGAP29	V	418	I	V418I	Benign	0	1	44	45
MUT:ARHGAP32:Ala74Thr	PROT:A7KAX9	ARHGAP32	A	74	T	A74T	Benign	0	1	46	513
MUT:ARHGAP32:Arg1220His	PROT:A7KAX9	ARHGAP32	R	1220	H	R1220H	Likely benign	0	1	46	5
MUT:ARHGAP32:Arg1726Trp	PROT:A7KAX9	ARHGAP32	R	1726	W	R1726W	Benign	0	1	46	8
MUT:ARHGAP32:Glu1154Gly	PROT:A7KAX9	ARHGAP32	E	1154	G	E1154G	Benign	0	1	46	27
MUT:ARHGAP32:Gly2058Ser	PROT:A7KAX9	ARHGAP32	G	2058	S	G2058S	Likely benign	0	1	46	10
MUT:ARHGAP32:Ser1229Pro	PROT:A7KAX9	ARHGAP32	S	1229	P	S1229P	Benign	0	1	46	14
MUT:ARHGAP32:Ser1265Phe	PROT:A7KAX9	ARHGAP32	S	1265	F	S1265F	Benign	0	1	46	50
MUT:ARHGAP32:Ser1861Thr	PROT:A7KAX9	ARHGAP32	S	1861	T	S1861T	Benign	0	1	46	7
MUT:ARHGAP32:Thr528Arg	PROT:A7KAX9	ARHGAP32	T	528	R	T528R	Pathogenic	1	1	46	59
MUT:ARHGAP35:Ala1414Thr	PROT:Q9NRY4	ARHGAP35	A	1414	T	A1414T	Likely benign	0	1	49	33
MUT:ARHGAP35:Asp1340Asn	PROT:Q9NRY4	ARHGAP35	D	1340	N	D1340N	Likely benign	0	1	49	13
MUT:ARHGAP35:Pro1433Ala	PROT:Q9NRY4	ARHGAP35	P	1433	A	P1433A	Likely benign	0	1	49	39
MUT:ARHGAP45:Ala426Val	PROT:Q92619	ARHGAP45	A	426	V	A426V	Benign	0	1	28	48
MUT:ARHGAP5:Asn953Ser	PROT:Q13017	ARHGAP5	N	953	S	N953S	Benign	0	3	29	2
MUT:ARHGAP5:Val474Ala	PROT:Q13017	ARHGAP5	V	474	A	V474A	Pathogenic	1	1	29	59
MUT:ARHGEF10:Glu189Val	PROT:O15013	ARHGEF10	E	189	V	E189V	Likely benign	0	1	9	130
MUT:ARHGEF10:Leu370Phe	PROT:O15013	ARHGEF10	L	370	F	L370F	Benign	0	3	9	9
MUT:ARHGEF10:Met1150Val	PROT:O15013	ARHGEF10	M	1150	V	M1150V	Likely benign	0	1	9	131
MUT:ARHGEF10:Met664Thr	PROT:O15013	ARHGEF10	M	664	T	M664T	Benign	0	1	9	12
MUT:ARHGEF10:Ser984Ala	PROT:O15013	ARHGEF10	S	984	A	S984A	Benign	0	1	9	297
MUT:ARHGEF10:Thr1173Ser	PROT:O15013	ARHGEF10	T	1173	S	T1173S	Likely benign	0	1	9	108
MUT:ARHGEF10:Val700Ile	PROT:O15013	ARHGEF10	V	700	I	V700I	Benign	0	2	9	24
MUT:ARHGEF10:Val938Ile	PROT:O15013	ARHGEF10	V	938	I	V938I	Benign/Likely benign	0	1	9	262
MUT:ARHGEF10L:Asp1216Asn	PROT:Q9HCE6	ARHGEF10L	D	1216	N	D1216N	Likely pathogenic	1	1	13	37
MUT:ARHGEF15:Arg23Cys	PROT:O94989	ARHGEF15	R	23	C	R23C	Benign	0	2	7	10
MUT:ARHGEF15:Arg417Leu	PROT:O94989	ARHGEF15	R	417	L	R417L	Benign/Likely benign	0	1	7	10
MUT:ARHGEF15:Arg546Pro	PROT:O94989	ARHGEF15	R	546	P	R546P	Likely benign	0	1	7	119
MUT:ARHGEF15:Arg597His	PROT:O94989	ARHGEF15	R	597	H	R597H	Likely benign	0	1	7	170
MUT:ARHGEF15:Arg634Cys	PROT:O94989	ARHGEF15	R	634	C	R634C	Likely benign	0	1	7	207
MUT:ARHGEF15:Arg648Ser	PROT:O94989	ARHGEF15	R	648	S	R648S	Likely benign	0	1	7	221
MUT:ARHGEF15:Arg775Trp	PROT:O94989	ARHGEF15	R	775	W	R775W	Benign	0	1	7	348
MUT:ARHGEF15:Asp201His	PROT:O94989	ARHGEF15	D	201	H	D201H	Likely benign	0	2	7	41
MUT:ARHGEF15:Cys747Arg	PROT:O94989	ARHGEF15	C	747	R	C747R	Benign	0	1	7	320
MUT:ARHGEF15:Gln821His	PROT:O94989	ARHGEF15	Q	821	H	Q821H	Likely benign	0	1	7	394
MUT:ARHGEF15:Gly159Ala	PROT:O94989	ARHGEF15	G	159	A	G159A	Likely benign	0	1	7	50
MUT:ARHGEF15:Gly191Arg	PROT:O94989	ARHGEF15	G	191	R	G191R	Likely benign	0	1	7	51
MUT:ARHGEF15:Leu277Pro	PROT:O94989	ARHGEF15	L	277	P	L277P	Benign	0	1	7	35
MUT:ARHGEF15:Pro133Leu	PROT:O94989	ARHGEF15	P	133	L	P133L	Likely benign	0	2	7	24
MUT:ARHGEF15:Pro73Ser	PROT:O94989	ARHGEF15	P	73	S	P73S	Benign	0	1	7	34
MUT:ARHGEF15:Pro840Gln	PROT:O94989	ARHGEF15	P	840	Q	P840Q	Benign	0	1	7	413
MUT:ARHGEF15:Ser831Pro	PROT:O94989	ARHGEF15	S	831	P	S831P	Benign	0	1	7	404
MUT:ARHGEF15:Thr789Asn	PROT:O94989	ARHGEF15	T	789	N	T789N	Benign	0	2	7	362
MUT:ARHGEF15:Thr835Asn	PROT:O94989	ARHGEF15	T	835	N	T835N	Benign	0	1	7	408
MUT:ARHGEF17:Gly1704Ser	PROT:Q96PE2	ARHGEF17	G	1704	S	G1704S	Likely benign	0	4	46	257
MUT:ARHGEF1:Pro375Leu	PROT:Q92888	ARHGEF1	P	375	L	P375L	Benign	0	1	22	1
MUT:ARHGEF25:Arg443Cys	PROT:Q86VW2	ARHGEF25	R	443	C	R443C	Likely pathogenic	1	1	4	34
MUT:ARHGEF28:Ala1310Val	PROT:Q8N1W1	ARHGEF28	A	1310	V	A1310V	Likely benign	0	1	15	116
MUT:ARHGEF28:Arg1028Cys	PROT:Q8N1W1	ARHGEF28	R	1028	C	R1028C	Likely benign	0	1	15	25
MUT:ARHGEF28:Arg1211Ile	PROT:Q8N1W1	ARHGEF28	R	1211	I	R1211I	Likely benign	0	1	15	17
MUT:ARHGEF28:Arg1453Leu	PROT:Q8N1W1	ARHGEF28	R	1453	L	R1453L	Benign	0	1	15	259
MUT:ARHGEF28:Arg1685Lys	PROT:Q8N1W1	ARHGEF28	R	1685	K	R1685K	Likely benign	0	1	15	491
MUT:ARHGEF28:Arg343His	PROT:Q8N1W1	ARHGEF28	R	343	H	R343H	Likely benign	0	1	15	1
MUT:ARHGEF28:Arg573Cys	PROT:Q8N1W1	ARHGEF28	R	573	C	R573C	Likely benign	0	1	15	15
MUT:ARHGEF28:Arg930Gln	PROT:Q8N1W1	ARHGEF28	R	930	Q	R930Q	Likely benign	0	1	15	123
MUT:ARHGEF28:Asn1046Ser	PROT:Q8N1W1	ARHGEF28	N	1046	S	N1046S	Likely benign	0	1	15	7
MUT:ARHGEF28:Asn718Thr	PROT:Q8N1W1	ARHGEF28	N	718	T	N718T	Likely benign	0	1	15	30
MUT:ARHGEF28:Asp1494Tyr	PROT:Q8N1W1	ARHGEF28	D	1494	Y	D1494Y	Likely benign	0	1	15	300
MUT:ARHGEF28:Asp274Tyr	PROT:Q8N1W1	ARHGEF28	D	274	Y	D274Y	Likely benign	0	1	15	51
MUT:ARHGEF28:Glu1436Gly	PROT:Q8N1W1	ARHGEF28	E	1436	G	E1436G	Likely benign	0	1	15	242
MUT:ARHGEF28:Gly127Ala	PROT:Q8N1W1	ARHGEF28	G	127	A	G127A	Likely benign	0	1	15	86
MUT:ARHGEF28:His1640Gln	PROT:Q8N1W1	ARHGEF28	H	1640	Q	H1640Q	Benign	0	3	15	446
MUT:ARHGEF28:Leu575Phe	PROT:Q8N1W1	ARHGEF28	L	575	F	L575F	Likely benign	0	1	15	15
MUT:ARHGEF28:Met45Val	PROT:Q8N1W1	ARHGEF28	M	45	V	M45V	Likely benign	0	1	15	168
MUT:ARHGEF28:Pro186Leu	PROT:Q8N1W1	ARHGEF28	P	186	L	P186L	Likely benign	0	1	15	27
MUT:ARHGEF28:Pro353Leu	PROT:Q8N1W1	ARHGEF28	P	353	L	P353L	Likely benign	0	1	15	4
MUT:ARHGEF28:Ser1654Pro	PROT:Q8N1W1	ARHGEF28	S	1654	P	S1654P	Benign	0	1	15	460
MUT:ARHGEF28:Thr1391Asn	PROT:Q8N1W1	ARHGEF28	T	1391	N	T1391N	Likely benign	0	2	15	197
MUT:ARHGEF28:Thr67Met	PROT:Q8N1W1	ARHGEF28	T	67	M	T67M	Likely benign	0	1	15	146
MUT:ARHGEF28:Tyr1232Cys	PROT:Q8N1W1	ARHGEF28	Y	1232	C	Y1232C	Likely benign	0	1	15	38
MUT:ARHGEF9:Ala468Ser	PROT:O43307	ARHGEF9	A	468	S	A468S	Benign	0	1	1	34
MUT:ARHGEF9:Arg111Gln	PROT:O43307	ARHGEF9	R	111	Q	R111Q	Pathogenic/Likely pathogenic	1	1	1	391
MUT:ARHGEF9:Arg297His	PROT:O43307	ARHGEF9	R	297	H	R297H	Pathogenic/Likely pathogenic	1	1	1	205
MUT:ARHGEF9:Arg345Trp	PROT:O43307	ARHGEF9	R	345	W	R345W	Pathogenic/Likely pathogenic	1	1	1	157
MUT:ARHGEF9:Arg372His	PROT:O43307	ARHGEF9	R	372	H	R372H	Pathogenic/Likely pathogenic	1	2	1	130
MUT:ARHGEF9:Asp313Glu	PROT:O43307	ARHGEF9	D	313	E	D313E	Benign/Likely benign	0	2	1	189
MUT:ARHGEF9:Asp382Asn	PROT:O43307	ARHGEF9	D	382	N	D382N	Likely benign	0	1	1	120
MUT:ARHGEF9:Asp491Glu	PROT:O43307	ARHGEF9	D	491	E	D491E	Benign/Likely benign	0	1	1	11
MUT:ARHGEF9:Asp58Asn	PROT:O43307	ARHGEF9	D	58	N	D58N	Likely benign	0	1	1	444
MUT:ARHGEF9:Cys140Tyr	PROT:O43307	ARHGEF9	C	140	Y	C140Y	Likely pathogenic	1	1	1	362
MUT:ARHGEF9:Gln497Arg	PROT:O43307	ARHGEF9	Q	497	R	Q497R	Likely benign	0	1	1	5
MUT:ARHGEF9:Glu186Lys	PROT:O43307	ARHGEF9	E	186	K	E186K	Pathogenic/Likely pathogenic	1	2	1	316
MUT:ARHGEF9:Gly188Arg	PROT:O43307	ARHGEF9	G	188	R	G188R	Likely pathogenic	1	1	1	314
MUT:ARHGEF9:Gly62Ala	PROT:O43307	ARHGEF9	G	62	A	G62A	Pathogenic	1	1	1	440
MUT:ARHGEF9:Ile17Val	PROT:O43307	ARHGEF9	I	17	V	I17V	Benign/Likely benign	0	1	1	485
MUT:ARHGEF9:Ile409Val	PROT:O43307	ARHGEF9	I	409	V	I409V	Likely benign	0	3	1	93
MUT:ARHGEF9:Ile444Val	PROT:O43307	ARHGEF9	I	444	V	I444V	Benign/Likely benign	0	1	1	58
MUT:ARHGEF9:Met10Thr	PROT:O43307	ARHGEF9	M	10	T	M10T	Benign/Likely benign	0	1	1	492
MUT:ARHGEF9:Pro478Leu	PROT:O43307	ARHGEF9	P	478	L	P478L	Benign	0	1	1	24
MUT:ARHGEF9:Val489Leu	PROT:O43307	ARHGEF9	V	489	L	V489L	Likely benign	0	1	1	13
MUT:ARID5A:Gly194Glu	PROT:Q03989	ARID5A	G	194	E	G194E	Likely benign	0	1	6	29
MUT:ARID5A:Leu304Pro	PROT:Q03989	ARID5A	L	304	P	L304P	Likely benign	0	1	6	73
MUT:ARID5B:Ala618Thr	PROT:Q14865	ARID5B	A	618	T	A618T	Benign	0	1	36	11
MUT:ARID5B:Val801Ala	PROT:Q14865	ARID5B	V	801	A	V801A	Benign	0	1	36	11
MUT:ARL13B:Arg200Cys	PROT:Q3SXY8	ARL13B	R	200	C	R200C	Pathogenic/Likely pathogenic	1	2	13	43
MUT:ARL13B:Arg200His	PROT:Q3SXY8	ARL13B	R	200	H	R200H	Pathogenic/Likely pathogenic	1	2	13	43
MUT:ARL13B:Arg224Gln	PROT:Q3SXY8	ARL13B	R	224	Q	R224Q	Benign	0	1	13	67
MUT:ARL13B:Arg79Gln	PROT:Q3SXY8	ARL13B	R	79	Q	R79Q	Pathogenic	1	1	13	15
MUT:ARL13B:Arg79Trp	PROT:Q3SXY8	ARL13B	R	79	W	R79W	Likely pathogenic	1	1	13	15
MUT:ARL13B:Gly315Arg	PROT:Q3SXY8	ARL13B	G	315	R	G315R	Likely benign	0	1	13	5
MUT:ARL13B:Gly75Arg	PROT:Q3SXY8	ARL13B	G	75	R	G75R	Pathogenic	1	2	13	11
MUT:ARL13B:Ile190Val	PROT:Q3SXY8	ARL13B	I	190	V	I190V	Benign	0	1	13	33
MUT:ARL13B:Lys349Glu	PROT:Q3SXY8	ARL13B	K	349	E	K349E	Likely benign	0	2	13	8
MUT:ARL13B:Pro396Ala	PROT:Q3SXY8	ARL13B	P	396	A	P396A	Benign/Likely benign	0	2	13	10
MUT:ARL13B:Thr348Ser	PROT:Q3SXY8	ARL13B	T	348	S	T348S	Benign	0	5	13	7
MUT:ARL3:Arg149Cys	PROT:P36405	ARL3	R	149	C	R149C	Pathogenic	1	1	10	91
MUT:ARL3:Arg99Ile	PROT:P36405	ARL3	R	99	I	R99I	Pathogenic	1	1	10	41
MUT:ARL3:Gly70Glu	PROT:P36405	ARL3	G	70	E	G70E	Pathogenic	1	1	10	12
MUT:ARL3:Pro135Leu	PROT:P36405	ARL3	P	135	L	P135L	Benign/Likely benign	0	1	10	77
MUT:ARL4D:His117Arg	PROT:P49703	ARL4D	H	117	R	H117R	Likely benign	0	1	2	72
MUT:ARL6IP1:Asn10Ser	PROT:Q15041	ARL6IP1	N	10	S	N10S	Benign	0	1	3	86
MUT:ARL6IP1:Leu31Pro	PROT:Q15041	ARL6IP1	L	31	P	L31P	Pathogenic	1	1	3	65
MUT:ARL6IP1:Val143Ile	PROT:Q15041	ARL6IP1	V	143	I	V143I	Likely benign	0	1	3	19
MUT:ARL6IP6:Leu125Phe	PROT:Q8N6S5	ARL6IP6	L	125	F	L125F	Likely pathogenic	1	1	8	45
MUT:ARMC2:Ala184Val	PROT:Q8NEN0	ARMC2	A	184	V	A184V	Benign	0	1	2	80
MUT:ARMC2:Gln52Pro	PROT:Q8NEN0	ARMC2	Q	52	P	Q52P	Likely benign	0	1	2	36
MUT:ARMC2:Ile630Val	PROT:Q8NEN0	ARMC2	I	630	V	I630V	Benign	0	1	2	526
MUT:ARMC2:Ile760Asn	PROT:Q8NEN0	ARMC2	I	760	N	I760N	Pathogenic	1	2	2	656
MUT:ARMC2:Met166Thr	PROT:Q8NEN0	ARMC2	M	166	T	M166T	Benign	0	1	2	62
MUT:ARMC2:Thr546Met	PROT:Q8NEN0	ARMC2	T	546	M	T546M	Benign	0	1	2	442
MUT:ARMC9:Ala497Val	PROT:Q7Z3E5	ARMC9	A	497	V	A497V	Benign	0	1	18	37
MUT:ARMC9:Arg343Cys	PROT:Q7Z3E5	ARMC9	R	343	C	R343C	Pathogenic/Likely pathogenic	1	4	18	35
MUT:ARMC9:Arg446Cys	PROT:Q7Z3E5	ARMC9	R	446	C	R446C	Pathogenic/Likely pathogenic	1	3	18	3
MUT:ARMC9:Arg549Cys	PROT:Q7Z3E5	ARMC9	R	549	C	R549C	Benign	0	1	18	4
MUT:ARMC9:Arg636Trp	PROT:Q7Z3E5	ARMC9	R	636	W	R636W	Likely benign	0	4	18	9
MUT:ARMC9:Arg696Gly	PROT:Q7Z3E5	ARMC9	R	696	G	R696G	Benign	0	1	18	41
MUT:ARMC9:Gly492Arg	PROT:Q7Z3E5	ARMC9	G	492	R	G492R	Likely pathogenic	1	4	18	42
MUT:ARMC9:Ile180Glu	PROT:Q7Z3E5	ARMC9	I	180	E	I180E	Benign	0	1	18	4
MUT:ARMC9:Ile180Val	PROT:Q7Z3E5	ARMC9	I	180	V	I180V	Benign	0	1	18	4
MUT:ARMC9:Ile198Met	PROT:Q7Z3E5	ARMC9	I	198	M	I198M	Likely benign	0	1	18	10
MUT:ARMC9:Ile209Met	PROT:Q7Z3E5	ARMC9	I	209	M	I209M	Likely benign	0	1	18	20
MUT:ARMC9:Ile4Val	PROT:Q7Z3E5	ARMC9	I	4	V	I4V	Benign	0	1	18	25
MUT:ARMC9:Pro520Leu	PROT:Q7Z3E5	ARMC9	P	520	L	P520L	Pathogenic/Likely pathogenic	1	3	18	14
MUT:ARMC9:Ser170Ala	PROT:Q7Z3E5	ARMC9	S	170	A	S170A	Likely benign	0	1	18	6
MUT:ARMC9:Thr383Met	PROT:Q7Z3E5	ARMC9	T	383	M	T383M	Likely benign	0	1	18	58
MUT:ARMC9:Thr475Met	PROT:Q7Z3E5	ARMC9	T	475	M	T475M	Likely benign	0	2	18	32
MUT:ARMC9:Val462Ile	PROT:Q7Z3E5	ARMC9	V	462	I	V462I	Likely benign	0	1	18	19
MUT:ARNT2:Gln569His	PROT:Q9HBZ2	ARNT2	Q	569	H	Q569H	Likely benign	0	1	3	45
MUT:ARNT2:Gly306Ser	PROT:Q9HBZ2	ARNT2	G	306	S	G306S	Likely benign	0	1	3	92
MUT:ARNT2:Gly679Ser	PROT:Q9HBZ2	ARNT2	G	679	S	G679S	Benign	0	2	3	65
MUT:ARPC1B:Ala105Val	PROT:O15143	ARPC1B	A	105	V	A105V	Pathogenic	1	1	25	5
MUT:ARPC1B:Asp232Glu	PROT:O15143	ARPC1B	D	232	E	D232E	Likely benign	0	1	25	45
MUT:ARPC1B:Lys37Asn	PROT:O15143	ARPC1B	K	37	N	K37N	Benign/Likely benign	0	1	25	0
MUT:ARPC1B:Met278Ile	PROT:O15143	ARPC1B	M	278	I	M278I	Likely benign	0	1	25	29
MUT:ARPC1B:Val208Phe	PROT:O15143	ARPC1B	V	208	F	V208F	Pathogenic	1	1	25	21
MUT:ARPC1B:Val226Ile	PROT:O15143	ARPC1B	V	226	I	V226I	Likely benign	0	1	25	39
MUT:ARSL:Ala35Thr	PROT:P51690	ARSL	A	35	T	A35T	Benign/Likely benign	0	1	2	46
MUT:ARSL:Ala83Thr	PROT:P51690	ARSL	A	83	T	A83T	Likely pathogenic	1	1	2	1
MUT:ARSL:Arg111Pro	PROT:P51690	ARSL	R	111	P	R111P	Pathogenic	1	1	2	27
MUT:ARSL:Arg183His	PROT:P51690	ARSL	R	183	H	R183H	Benign/Likely benign	0	3	2	99
MUT:ARSL:Arg394His	PROT:P51690	ARSL	R	394	H	R394H	Benign	0	1	2	310
MUT:ARSL:Arg420Gln	PROT:P51690	ARSL	R	420	Q	R420Q	Benign/Likely benign	0	2	2	336
MUT:ARSL:Arg469Gln	PROT:P51690	ARSL	R	469	Q	R469Q	Likely benign	0	1	2	385
MUT:ARSL:Arg540Gln	PROT:P51690	ARSL	R	540	Q	R540Q	Likely benign	0	1	2	456
MUT:ARSL:Asp470His	PROT:P51690	ARSL	D	470	H	D470H	Benign/Likely benign	0	3	2	386
MUT:ARSL:Cys492Tyr	PROT:P51690	ARSL	C	492	Y	C492Y	Pathogenic	1	1	2	408
MUT:ARSL:Gly117Arg	PROT:P51690	ARSL	G	117	R	G117R	Pathogenic/Likely pathogenic	1	1	2	33
MUT:ARSL:Gly137Val	PROT:P51690	ARSL	G	137	V	G137V	Pathogenic	1	1	2	53
MUT:ARSL:Gly144Arg	PROT:P51690	ARSL	G	144	R	G144R	Likely pathogenic	1	1	2	60
MUT:ARSL:Gly245Arg	PROT:P51690	ARSL	G	245	R	G245R	Pathogenic	1	1	2	161
MUT:ARSL:Gly424Ser	PROT:P51690	ARSL	G	424	S	G424S	Benign	0	2	2	340
MUT:ARSL:Gly73Ser	PROT:P51690	ARSL	G	73	S	G73S	Likely pathogenic	1	2	2	8
MUT:ARSL:His259Asp	PROT:P51690	ARSL	H	259	D	H259D	Benign/Likely benign	0	2	2	175
MUT:ARSL:Ile387Leu	PROT:P51690	ARSL	I	387	L	I387L	Benign	0	1	2	303
MUT:ARSL:Ile40Ser	PROT:P51690	ARSL	I	40	S	I40S	Likely pathogenic	1	1	2	41
MUT:ARSL:Ile53Val	PROT:P51690	ARSL	I	53	V	I53V	Benign	0	3	2	28
MUT:ARSL:Leu347Phe	PROT:P51690	ARSL	L	347	F	L347F	Benign	0	1	2	263
MUT:ARSL:Met454Ile	PROT:P51690	ARSL	M	454	I	M454I	Likely benign	0	1	2	370
MUT:ARSL:Phe291Leu	PROT:P51690	ARSL	F	291	L	F291L	Likely benign	0	1	2	207
MUT:ARSL:Pro578Ser	PROT:P51690	ARSL	P	578	S	P578S	Pathogenic	1	1	2	494
MUT:ARSL:Ser156Asn	PROT:P51690	ARSL	S	156	N	S156N	Benign/Likely benign	0	3	2	72
MUT:ARSL:Ser233Leu	PROT:P51690	ARSL	S	233	L	S233L	Likely benign	0	1	2	149
MUT:ARSL:Thr306Ala	PROT:P51690	ARSL	T	306	A	T306A	Pathogenic	1	1	2	222
MUT:ARSL:Thr473Lys	PROT:P51690	ARSL	T	473	K	T473K	Likely benign	0	1	2	389
MUT:ARSL:Val222Ile	PROT:P51690	ARSL	V	222	I	V222I	Benign/Likely benign	0	1	2	138
MUT:ARSL:Val235Ile	PROT:P51690	ARSL	V	235	I	V235I	Benign	0	1	2	151
MUT:ARSL:Val323Ile	PROT:P51690	ARSL	V	323	I	V323I	Likely benign	0	1	2	239
MUT:ARSL:Val398Met	PROT:P51690	ARSL	V	398	M	V398M	Likely benign	0	1	2	314
MUT:ARSL:Val74Met	PROT:P51690	ARSL	V	74	M	V74M	Benign	0	2	2	7
MUT:ARV1:Ala25Ser	PROT:Q9H2C2	ARV1	A	25	S	A25S	Likely benign	0	1	1	17
MUT:ARV1:Gly101Glu	PROT:Q9H2C2	ARV1	G	101	E	G101E	Benign	0	2	1	59
MUT:ARV1:Gly189Arg	PROT:Q9H2C2	ARV1	G	189	R	G189R	Likely pathogenic	1	2	1	147
MUT:ARV1:Thr22Ser	PROT:Q9H2C2	ARV1	T	22	S	T22S	Benign/Likely benign	0	1	1	20
MUT:ARV1:Val238Met	PROT:Q9H2C2	ARV1	V	238	M	V238M	Likely benign	0	1	1	196
MUT:ARX:Ala142Gly	PROT:Q96QS3	ARX	A	142	G	A142G	Likely benign	0	1	3	32
MUT:ARX:Ala416Gly	PROT:Q96QS3	ARX	A	416	G	A416G	Benign/Likely benign	0	1	3	242
MUT:ARX:Arg330His	PROT:Q96QS3	ARX	R	330	H	R330H	Likely pathogenic	1	1	3	156
MUT:ARX:Arg332His	PROT:Q96QS3	ARX	R	332	H	R332H	Pathogenic	1	2	3	158
MUT:ARX:Arg332Leu	PROT:Q96QS3	ARX	R	332	L	R332L	Pathogenic	1	1	3	158
MUT:ARX:Arg371Gln	PROT:Q96QS3	ARX	R	371	Q	R371Q	Likely pathogenic	1	1	3	197
MUT:ARX:Arg384Cys	PROT:Q96QS3	ARX	R	384	C	R384C	Pathogenic/Likely pathogenic	1	1	3	210
MUT:ARX:Asn378Lys	PROT:Q96QS3	ARX	N	378	K	N378K	Likely pathogenic	1	1	3	204
MUT:ARX:Gly402Arg	PROT:Q96QS3	ARX	G	402	R	G402R	Benign	0	1	3	228
MUT:ARX:Leu33Pro	PROT:Q96QS3	ARX	L	33	P	L33P	Pathogenic	1	1	3	4
MUT:ARX:Leu343Gln	PROT:Q96QS3	ARX	L	343	Q	L343Q	Pathogenic	1	1	3	169
MUT:ARX:Leu535Gln	PROT:Q96QS3	ARX	L	535	Q	L535Q	Pathogenic	1	1	3	361
MUT:ARX:Lys538Glu	PROT:Q96QS3	ARX	K	538	E	K538E	Pathogenic/Likely pathogenic	1	1	3	364
MUT:ARX:Met1Arg	PROT:Q96QS3	ARX	M	1	R	M1R	Pathogenic	1	1	3	36
MUT:ARX:Met1Leu	PROT:Q96QS3	ARX	M	1	L	M1L	Likely pathogenic	1	2	3	36
MUT:ARX:Met1Thr	PROT:Q96QS3	ARX	M	1	T	M1T	Likely pathogenic	1	1	3	36
MUT:ARX:Phe347Val	PROT:Q96QS3	ARX	F	347	V	F347V	Likely pathogenic	1	1	3	173
MUT:ARX:Pro201Gln	PROT:Q96QS3	ARX	P	201	Q	P201Q	Likely benign	0	1	3	27
MUT:ARX:Pro267Ala	PROT:Q96QS3	ARX	P	267	A	P267A	Likely benign	0	1	3	93
MUT:ARX:Pro353Leu	PROT:Q96QS3	ARX	P	353	L	P353L	Pathogenic	1	1	3	179
MUT:ARX:Ser56Gly	PROT:Q96QS3	ARX	S	56	G	S56G	Likely benign	0	1	3	11
MUT:ARX:Ser70Gly	PROT:Q96QS3	ARX	S	70	G	S70G	Likely benign	0	1	3	3
MUT:ARX:Thr333Asn	PROT:Q96QS3	ARX	T	333	N	T333N	Pathogenic	1	1	3	159
MUT:ARX:Thr333Ser	PROT:Q96QS3	ARX	T	333	S	T333S	Pathogenic	1	1	3	159
MUT:ARX:Val207Ala	PROT:Q96QS3	ARX	V	207	A	V207A	Likely benign	0	1	3	33
MUT:ARX:Val282Glu	PROT:Q96QS3	ARX	V	282	E	V282E	Likely benign	0	1	3	108
MUT:ARX:Val374Asp	PROT:Q96QS3	ARX	V	374	D	V374D	Likely pathogenic	1	1	3	200
MUT:ASPN:Gly192Glu	PROT:Q9BXN1	ASPN	G	192	E	G192E	Benign	0	1	1	44
MUT:ASPN:Met30Thr	PROT:Q9BXN1	ASPN	M	30	T	M30T	Likely benign	0	1	1	118
MUT:ASRGL1:Val33Met	PROT:Q7L266	ASRGL1	V	33	M	V33M	Benign	0	1	3	1
MUT:ASXL1:Ala1206Thr	PROT:Q8IXJ9	ASXL1	A	1206	T	A1206T	Likely benign	0	1	15	32
MUT:ASXL1:Ala1312Val	PROT:Q8IXJ9	ASXL1	A	1312	V	A1312V	Likely benign	0	1	15	36
MUT:ASXL1:Ala1380Gly	PROT:Q8IXJ9	ASXL1	A	1380	G	A1380G	Benign/Likely benign	0	1	15	1
MUT:ASXL1:Ala215Thr	PROT:Q8IXJ9	ASXL1	A	215	T	A215T	Likely pathogenic	1	1	15	14
MUT:ASXL1:Ala492Pro	PROT:Q8IXJ9	ASXL1	A	492	P	A492P	Benign	0	1	15	9
MUT:ASXL1:Ala530Thr	PROT:Q8IXJ9	ASXL1	A	530	T	A530T	Likely benign	0	1	15	4
MUT:ASXL1:Ala621Pro	PROT:Q8IXJ9	ASXL1	A	621	P	A621P	Likely benign	0	1	15	44
MUT:ASXL1:Ala772Pro	PROT:Q8IXJ9	ASXL1	A	772	P	A772P	Likely benign	0	1	15	195
MUT:ASXL1:Ala809Thr	PROT:Q8IXJ9	ASXL1	A	809	T	A809T	Likely benign	0	1	15	232
MUT:ASXL1:Ala934Ser	PROT:Q8IXJ9	ASXL1	A	934	S	A934S	Likely benign	0	1	15	209
MUT:ASXL1:Arg1224Gly	PROT:Q8IXJ9	ASXL1	R	1224	G	R1224G	Likely benign	0	1	15	38
MUT:ASXL1:Arg1247Cys	PROT:Q8IXJ9	ASXL1	R	1247	C	R1247C	Benign/Likely benign	0	2	15	15
MUT:ASXL1:Arg489Gly	PROT:Q8IXJ9	ASXL1	R	489	G	R489G	Benign/Likely benign	0	2	15	12
MUT:ASXL1:Arg506Thr	PROT:Q8IXJ9	ASXL1	R	506	T	R506T	Likely benign	0	1	15	3
MUT:ASXL1:Arg545Cys	PROT:Q8IXJ9	ASXL1	R	545	C	R545C	Benign/Likely benign	0	2	15	19
MUT:ASXL1:Arg596Trp	PROT:Q8IXJ9	ASXL1	R	596	W	R596W	Likely benign	0	1	15	19
MUT:ASXL1:Arg620Cys	PROT:Q8IXJ9	ASXL1	R	620	C	R620C	Likely benign	0	1	15	43
MUT:ASXL1:Arg92Cys	PROT:Q8IXJ9	ASXL1	R	92	C	R92C	Likely benign	0	1	15	109
MUT:ASXL1:Arg92His	PROT:Q8IXJ9	ASXL1	R	92	H	R92H	Likely benign	0	1	15	109
MUT:ASXL1:Asn884Asp	PROT:Q8IXJ9	ASXL1	N	884	D	N884D	Likely benign	0	1	15	259
MUT:ASXL1:Asn893Asp	PROT:Q8IXJ9	ASXL1	N	893	D	N893D	Likely benign	0	1	15	250
MUT:ASXL1:Asn986Ser	PROT:Q8IXJ9	ASXL1	N	986	S	N986S	Benign/Likely benign	0	2	15	157
MUT:ASXL1:Asp1127Asn	PROT:Q8IXJ9	ASXL1	D	1127	N	D1127N	Benign/Likely benign	0	1	15	16
MUT:ASXL1:Asp1128Gly	PROT:Q8IXJ9	ASXL1	D	1128	G	D1128G	Likely benign	0	1	15	15
MUT:ASXL1:Asp1180Asn	PROT:Q8IXJ9	ASXL1	D	1180	N	D1180N	Likely benign	0	1	15	6
MUT:ASXL1:Asp124Asn	PROT:Q8IXJ9	ASXL1	D	124	N	D124N	Likely benign	0	1	15	77
MUT:ASXL1:Asp1355Gly	PROT:Q8IXJ9	ASXL1	D	1355	G	D1355G	Likely benign	0	1	15	16
MUT:ASXL1:Asp196Asn	PROT:Q8IXJ9	ASXL1	D	196	N	D196N	Likely benign	0	1	15	5
MUT:ASXL1:Asp505Asn	PROT:Q8IXJ9	ASXL1	D	505	N	D505N	Likely benign	0	1	15	2
MUT:ASXL1:Asp505Gly	PROT:Q8IXJ9	ASXL1	D	505	G	D505G	Likely benign	0	1	15	2
MUT:ASXL1:Asp505Val	PROT:Q8IXJ9	ASXL1	D	505	V	D505V	Likely benign	0	1	15	2
MUT:ASXL1:Asp544Glu	PROT:Q8IXJ9	ASXL1	D	544	E	D544E	Likely benign	0	1	15	18
MUT:ASXL1:Asp741Val	PROT:Q8IXJ9	ASXL1	D	741	V	D741V	Benign/Likely benign	0	2	15	164
MUT:ASXL1:Asp799Tyr	PROT:Q8IXJ9	ASXL1	D	799	Y	D799Y	Benign	0	1	15	222
MUT:ASXL1:Asp800Asn	PROT:Q8IXJ9	ASXL1	D	800	N	D800N	Likely benign	0	1	15	223
MUT:ASXL1:Cys1070Tyr	PROT:Q8IXJ9	ASXL1	C	1070	Y	C1070Y	Likely benign	0	1	15	73
MUT:ASXL1:Cys1240Arg	PROT:Q8IXJ9	ASXL1	C	1240	R	C1240R	Likely benign	0	1	15	22
MUT:ASXL1:Cys387Arg	PROT:Q8IXJ9	ASXL1	C	387	R	C387R	Likely benign	0	1	15	114
MUT:ASXL1:Cys687Arg	PROT:Q8IXJ9	ASXL1	C	687	R	C687R	Benign/Likely benign	0	2	15	110
MUT:ASXL1:Gln1135Arg	PROT:Q8IXJ9	ASXL1	Q	1135	R	Q1135R	Likely benign	0	1	15	8
MUT:ASXL1:Gln1448Arg	PROT:Q8IXJ9	ASXL1	Q	1448	R	Q1448R	Benign/Likely benign	0	2	15	2
MUT:ASXL1:Gln225Arg	PROT:Q8IXJ9	ASXL1	Q	225	R	Q225R	Likely benign	0	1	15	24
MUT:ASXL1:Gln372Lys	PROT:Q8IXJ9	ASXL1	Q	372	K	Q372K	Likely benign	0	1	15	129
MUT:ASXL1:Gln803Arg	PROT:Q8IXJ9	ASXL1	Q	803	R	Q803R	Likely benign	0	1	15	226
MUT:ASXL1:Gln925His	PROT:Q8IXJ9	ASXL1	Q	925	H	Q925H	Likely benign	0	1	15	218
MUT:ASXL1:Glu1102Asp	PROT:Q8IXJ9	ASXL1	E	1102	D	E1102D	Benign	0	1	15	41
MUT:ASXL1:Glu1241Lys	PROT:Q8IXJ9	ASXL1	E	1241	K	E1241K	Likely benign	0	1	15	21
MUT:ASXL1:Glu477Gln	PROT:Q8IXJ9	ASXL1	E	477	Q	E477Q	Benign	0	2	15	24
MUT:ASXL1:Glu518Val	PROT:Q8IXJ9	ASXL1	E	518	V	E518V	Likely benign	0	1	15	8
MUT:ASXL1:Glu790Gly	PROT:Q8IXJ9	ASXL1	E	790	G	E790G	Likely benign	0	1	15	213
MUT:ASXL1:Glu790Lys	PROT:Q8IXJ9	ASXL1	E	790	K	E790K	Likely benign	0	1	15	213
MUT:ASXL1:Glu865Lys	PROT:Q8IXJ9	ASXL1	E	865	K	E865K	Benign/Likely benign	0	1	15	278
MUT:ASXL1:Glu914Asp	PROT:Q8IXJ9	ASXL1	E	914	D	E914D	Likely benign	0	1	15	229
MUT:ASXL1:Gly1154Asp	PROT:Q8IXJ9	ASXL1	G	1154	D	G1154D	Likely benign	0	1	15	11
MUT:ASXL1:Gly1156Glu	PROT:Q8IXJ9	ASXL1	G	1156	E	G1156E	Likely benign	0	1	15	13
MUT:ASXL1:Gly1164Arg	PROT:Q8IXJ9	ASXL1	G	1164	R	G1164R	Likely benign	0	1	15	10
MUT:ASXL1:Gly1187Asp	PROT:Q8IXJ9	ASXL1	G	1187	D	G1187D	Likely benign	0	1	15	13
MUT:ASXL1:Gly1339Arg	PROT:Q8IXJ9	ASXL1	G	1339	R	G1339R	Likely benign	0	1	15	32
MUT:ASXL1:Gly1397Asp	PROT:Q8IXJ9	ASXL1	G	1397	D	G1397D	Likely benign	0	1	15	18
MUT:ASXL1:Gly1397Ser	PROT:Q8IXJ9	ASXL1	G	1397	S	G1397S	Benign/Likely benign	0	2	15	18
MUT:ASXL1:Gly166Arg	PROT:Q8IXJ9	ASXL1	G	166	R	G166R	Likely benign	0	1	15	35
MUT:ASXL1:Gly200Ser	PROT:Q8IXJ9	ASXL1	G	200	S	G200S	Likely benign	0	1	15	1
MUT:ASXL1:Gly385Asp	PROT:Q8IXJ9	ASXL1	G	385	D	G385D	Likely benign	0	1	15	116
MUT:ASXL1:Gly652Ser	PROT:Q8IXJ9	ASXL1	G	652	S	G652S	Benign	0	1	15	75
MUT:ASXL1:Gly680Asp	PROT:Q8IXJ9	ASXL1	G	680	D	G680D	Likely benign	0	1	15	103
MUT:ASXL1:Gly704Arg	PROT:Q8IXJ9	ASXL1	G	704	R	G704R	Benign/Likely benign	0	2	15	127
MUT:ASXL1:His1361Leu	PROT:Q8IXJ9	ASXL1	H	1361	L	H1361L	Likely benign	0	1	15	10
MUT:ASXL1:His1390Tyr	PROT:Q8IXJ9	ASXL1	H	1390	Y	H1390Y	Likely benign	0	1	15	11
MUT:ASXL1:His315Leu	PROT:Q8IXJ9	ASXL1	H	315	L	H315L	Likely benign	0	1	15	114
MUT:ASXL1:His633Arg	PROT:Q8IXJ9	ASXL1	H	633	R	H633R	Benign/Likely benign	0	2	15	56
MUT:ASXL1:Ile1436Val	PROT:Q8IXJ9	ASXL1	I	1436	V	I1436V	Likely benign	0	1	15	1
MUT:ASXL1:Ile268Phe	PROT:Q8IXJ9	ASXL1	I	268	F	I268F	Likely benign	0	1	15	67
MUT:ASXL1:Ile507Asn	PROT:Q8IXJ9	ASXL1	I	507	N	I507N	Benign/Likely benign	0	1	15	4
MUT:ASXL1:Ile552Val	PROT:Q8IXJ9	ASXL1	I	552	V	I552V	Likely benign	0	1	15	25
MUT:ASXL1:Ile574Val	PROT:Q8IXJ9	ASXL1	I	574	V	I574V	Pathogenic	1	1	15	3
MUT:ASXL1:Ile597Leu	PROT:Q8IXJ9	ASXL1	I	597	L	I597L	Likely benign	0	1	15	20
MUT:ASXL1:Ile617Val	PROT:Q8IXJ9	ASXL1	I	617	V	I617V	Likely benign	0	1	15	40
MUT:ASXL1:Ile814Val	PROT:Q8IXJ9	ASXL1	I	814	V	I814V	Likely benign	0	1	15	237
MUT:ASXL1:Ile899Met	PROT:Q8IXJ9	ASXL1	I	899	M	I899M	Likely benign	0	1	15	244
MUT:ASXL1:Leu1155Ile	PROT:Q8IXJ9	ASXL1	L	1155	I	L1155I	Likely benign	0	1	15	12
MUT:ASXL1:Leu1226Gln	PROT:Q8IXJ9	ASXL1	L	1226	Q	L1226Q	Likely benign	0	1	15	36
MUT:ASXL1:Leu1325Phe	PROT:Q8IXJ9	ASXL1	L	1325	F	L1325F	Benign	0	1	15	46
MUT:ASXL1:Leu1395Val	PROT:Q8IXJ9	ASXL1	L	1395	V	L1395V	Likely benign	0	1	15	16
MUT:ASXL1:Leu145Phe	PROT:Q8IXJ9	ASXL1	L	145	F	L145F	Likely benign	0	1	15	56
MUT:ASXL1:Leu1490Met	PROT:Q8IXJ9	ASXL1	L	1490	M	L1490M	Likely benign	0	1	15	44
MUT:ASXL1:Leu1490Phe	PROT:Q8IXJ9	ASXL1	L	1490	F	L1490F	Benign/Likely benign	0	2	15	44
MUT:ASXL1:Leu1490Ser	PROT:Q8IXJ9	ASXL1	L	1490	S	L1490S	Likely benign	0	1	15	44
MUT:ASXL1:Leu510Pro	PROT:Q8IXJ9	ASXL1	L	510	P	L510P	Likely benign	0	1	15	7
MUT:ASXL1:Leu691Ile	PROT:Q8IXJ9	ASXL1	L	691	I	L691I	Likely benign	0	1	15	114
MUT:ASXL1:Leu739Ile	PROT:Q8IXJ9	ASXL1	L	739	I	L739I	Likely benign	0	1	15	162
MUT:ASXL1:Leu823Ser	PROT:Q8IXJ9	ASXL1	L	823	S	L823S	Likely benign	0	1	15	246
MUT:ASXL1:Lys1261Arg	PROT:Q8IXJ9	ASXL1	K	1261	R	K1261R	Likely benign	0	1	15	1
MUT:ASXL1:Lys1371Arg	PROT:Q8IXJ9	ASXL1	K	1371	R	K1371R	Likely benign	0	1	15	0
MUT:ASXL1:Lys236Gln	PROT:Q8IXJ9	ASXL1	K	236	Q	K236Q	Likely benign	0	1	15	35
MUT:ASXL1:Lys7Arg	PROT:Q8IXJ9	ASXL1	K	7	R	K7R	Likely benign	0	1	15	194
MUT:ASXL1:Lys838Arg	PROT:Q8IXJ9	ASXL1	K	838	R	K838R	Benign	0	1	15	261
MUT:ASXL1:Lys912Glu	PROT:Q8IXJ9	ASXL1	K	912	E	K912E	Likely benign	0	1	15	231
MUT:ASXL1:Met1050Val	PROT:Q8IXJ9	ASXL1	M	1050	V	M1050V	Benign/Likely benign	0	1	15	93
MUT:ASXL1:Met1249Val	PROT:Q8IXJ9	ASXL1	M	1249	V	M1249V	Benign/Likely benign	0	1	15	13
MUT:ASXL1:Phe1305Ser	PROT:Q8IXJ9	ASXL1	F	1305	S	F1305S	Likely benign	0	1	15	29
MUT:ASXL1:Pro1035His	PROT:Q8IXJ9	ASXL1	P	1035	H	P1035H	Likely benign	0	1	15	108
MUT:ASXL1:Pro1219Leu	PROT:Q8IXJ9	ASXL1	P	1219	L	P1219L	Likely benign	0	1	15	43
MUT:ASXL1:Pro1322Arg	PROT:Q8IXJ9	ASXL1	P	1322	R	P1322R	Benign/Likely benign	0	1	15	46
MUT:ASXL1:Pro1377Ser	PROT:Q8IXJ9	ASXL1	P	1377	S	P1377S	Likely benign	0	1	15	2
MUT:ASXL1:Pro1392Ala	PROT:Q8IXJ9	ASXL1	P	1392	A	P1392A	Likely benign	0	1	15	13
MUT:ASXL1:Pro808His	PROT:Q8IXJ9	ASXL1	P	808	H	P808H	Benign/Likely benign	0	1	15	231
MUT:ASXL1:Pro873Leu	PROT:Q8IXJ9	ASXL1	P	873	L	P873L	Benign/Likely benign	0	2	15	270
MUT:ASXL1:Pro874Ser	PROT:Q8IXJ9	ASXL1	P	874	S	P874S	Likely benign	0	1	15	269
MUT:ASXL1:Ser1079Pro	PROT:Q8IXJ9	ASXL1	S	1079	P	S1079P	Benign/Likely benign	0	1	15	64
MUT:ASXL1:Ser1095Cys	PROT:Q8IXJ9	ASXL1	S	1095	C	S1095C	Likely benign	0	1	15	48
MUT:ASXL1:Ser1143Arg	PROT:Q8IXJ9	ASXL1	S	1143	R	S1143R	Benign/Likely benign	0	1	15	0
MUT:ASXL1:Ser1166Arg	PROT:Q8IXJ9	ASXL1	S	1166	R	S1166R	Benign/Likely benign	0	1	15	8
MUT:ASXL1:Ser1168Thr	PROT:Q8IXJ9	ASXL1	S	1168	T	S1168T	Likely benign	0	1	15	6
MUT:ASXL1:Ser1231Phe	PROT:Q8IXJ9	ASXL1	S	1231	F	S1231F	Benign	0	1	15	31
MUT:ASXL1:Ser1276Phe	PROT:Q8IXJ9	ASXL1	S	1276	F	S1276F	Likely benign	0	1	15	0
MUT:ASXL1:Ser1307Pro	PROT:Q8IXJ9	ASXL1	S	1307	P	S1307P	Likely benign	0	1	15	31
MUT:ASXL1:Ser441Phe	PROT:Q8IXJ9	ASXL1	S	441	F	S441F	Likely benign	0	1	15	60
MUT:ASXL1:Ser444Leu	PROT:Q8IXJ9	ASXL1	S	444	L	S444L	Benign/Likely benign	0	1	15	57
MUT:ASXL1:Ser444Pro	PROT:Q8IXJ9	ASXL1	S	444	P	S444P	Likely benign	0	1	15	57
MUT:ASXL1:Ser463Thr	PROT:Q8IXJ9	ASXL1	S	463	T	S463T	Likely benign	0	1	15	38
MUT:ASXL1:Ser664Gly	PROT:Q8IXJ9	ASXL1	S	664	G	S664G	Likely benign	0	1	15	87
MUT:ASXL1:Ser833Asn	PROT:Q8IXJ9	ASXL1	S	833	N	S833N	Likely benign	0	1	15	256
MUT:ASXL1:Ser955Ile	PROT:Q8IXJ9	ASXL1	S	955	I	S955I	Likely benign	0	1	15	188
MUT:ASXL1:Ser973Gly	PROT:Q8IXJ9	ASXL1	S	973	G	S973G	Likely benign	0	1	15	170
MUT:ASXL1:Thr1010Met	PROT:Q8IXJ9	ASXL1	T	1010	M	T1010M	Benign/Likely benign	0	2	15	133
MUT:ASXL1:Thr1018Pro	PROT:Q8IXJ9	ASXL1	T	1018	P	T1018P	Likely benign	0	1	15	125
MUT:ASXL1:Thr1104Ser	PROT:Q8IXJ9	ASXL1	T	1104	S	T1104S	Likely benign	0	1	15	39
MUT:ASXL1:Thr1271Ala	PROT:Q8IXJ9	ASXL1	T	1271	A	T1271A	Likely benign	0	1	15	5
MUT:ASXL1:Thr224Ala	PROT:Q8IXJ9	ASXL1	T	224	A	T224A	Likely benign	0	1	15	23
MUT:ASXL1:Thr50Ala	PROT:Q8IXJ9	ASXL1	T	50	A	T50A	Likely benign	0	1	15	151
MUT:ASXL1:Thr551Ser	PROT:Q8IXJ9	ASXL1	T	551	S	T551S	Likely benign	0	1	15	25
MUT:ASXL1:Thr563Ala	PROT:Q8IXJ9	ASXL1	T	563	A	T563A	Likely benign	0	1	15	14
MUT:ASXL1:Thr740Arg	PROT:Q8IXJ9	ASXL1	T	740	R	T740R	Likely benign	0	1	15	163
MUT:ASXL1:Thr96Ala	PROT:Q8IXJ9	ASXL1	T	96	A	T96A	Likely benign	0	1	15	105
MUT:ASXL1:Val1046Ala	PROT:Q8IXJ9	ASXL1	V	1046	A	V1046A	Likely benign	0	1	15	97
MUT:ASXL1:Val1136Ile	PROT:Q8IXJ9	ASXL1	V	1136	I	V1136I	Likely benign	0	1	15	7
MUT:ASXL1:Val1246Ala	PROT:Q8IXJ9	ASXL1	V	1246	A	V1246A	Likely benign	0	1	15	16
MUT:ASXL1:Val1297Ile	PROT:Q8IXJ9	ASXL1	V	1297	I	V1297I	Benign/Likely benign	0	1	15	21
MUT:ASXL1:Val1374Gly	PROT:Q8IXJ9	ASXL1	V	1374	G	V1374G	Likely benign	0	1	15	3
MUT:ASXL1:Val388Ile	PROT:Q8IXJ9	ASXL1	V	388	I	V388I	Benign	0	1	15	113
MUT:ASXL1:Val737Ala	PROT:Q8IXJ9	ASXL1	V	737	A	V737A	Likely benign	0	1	15	160
MUT:ASXL1:Val751Ile	PROT:Q8IXJ9	ASXL1	V	751	I	V751I	Benign	0	1	15	174
MUT:ASXL1:Val807Leu	PROT:Q8IXJ9	ASXL1	V	807	L	V807L	Likely benign	0	1	15	230
MUT:ASXL2:Ala497Thr	PROT:Q76L83	ASXL2	A	497	T	A497T	Benign	0	1	33	20
MUT:ASXL2:Ala679Thr	PROT:Q76L83	ASXL2	A	679	T	A679T	Likely benign	0	1	33	99
MUT:ASXL2:Ala684Thr	PROT:Q76L83	ASXL2	A	684	T	A684T	Benign/Likely benign	0	2	33	104
MUT:ASXL2:Ala796Thr	PROT:Q76L83	ASXL2	A	796	T	A796T	Likely benign	0	1	33	38
MUT:ASXL2:Arg1075Gln	PROT:Q76L83	ASXL2	R	1075	Q	R1075Q	Benign/Likely benign	0	1	33	79
MUT:ASXL2:Arg591His	PROT:Q76L83	ASXL2	R	591	H	R591H	Benign	0	1	33	11
MUT:ASXL2:Asn803Ser	PROT:Q76L83	ASXL2	N	803	S	N803S	Likely benign	0	1	33	31
MUT:ASXL2:Asp1179Asn	PROT:Q76L83	ASXL2	D	1179	N	D1179N	Likely benign	0	1	33	25
MUT:ASXL2:Asp802Asn	PROT:Q76L83	ASXL2	D	802	N	D802N	Likely benign	0	1	33	32
MUT:ASXL2:Asp86Glu	PROT:Q76L83	ASXL2	D	86	E	D86E	Benign	0	1	33	50
MUT:ASXL2:Cys1225Ser	PROT:Q76L83	ASXL2	C	1225	S	C1225S	Benign	0	2	33	20
MUT:ASXL2:Gln1371Lys	PROT:Q76L83	ASXL2	Q	1371	K	Q1371K	Benign/Likely benign	0	1	33	52
MUT:ASXL2:Glu1389Lys	PROT:Q76L83	ASXL2	E	1389	K	E1389K	Likely benign	0	1	33	41
MUT:ASXL2:Glu254Asp	PROT:Q76L83	ASXL2	E	254	D	E254D	Likely benign	0	1	33	4
MUT:ASXL2:Glu500Ala	PROT:Q76L83	ASXL2	E	500	A	E500A	Likely benign	0	1	33	17
MUT:ASXL2:Gly1213Val	PROT:Q76L83	ASXL2	G	1213	V	G1213V	Likely benign	0	1	33	32
MUT:ASXL2:Gly1253Ser	PROT:Q76L83	ASXL2	G	1253	S	G1253S	Likely benign	0	1	33	8
MUT:ASXL2:Gly608Glu	PROT:Q76L83	ASXL2	G	608	E	G608E	Benign/Likely benign	0	1	33	28
MUT:ASXL2:His1215Tyr	PROT:Q76L83	ASXL2	H	1215	Y	H1215Y	Likely benign	0	1	33	30
MUT:ASXL2:Ile537Val	PROT:Q76L83	ASXL2	I	537	V	I537V	Likely benign	0	1	33	13
MUT:ASXL2:Leu465Phe	PROT:Q76L83	ASXL2	L	465	F	L465F	Likely benign	0	1	33	25
MUT:ASXL2:Met1373Val	PROT:Q76L83	ASXL2	M	1373	V	M1373V	Likely benign	0	1	33	54
MUT:ASXL2:Pro1030Arg	PROT:Q76L83	ASXL2	P	1030	R	P1030R	Likely benign	0	1	33	124
MUT:ASXL2:Pro145Leu	PROT:Q76L83	ASXL2	P	145	L	P145L	Likely benign	0	1	33	1
MUT:ASXL2:Pro463Arg	PROT:Q76L83	ASXL2	P	463	R	P463R	Likely benign	0	2	33	23
MUT:ASXL2:Ser1175Gly	PROT:Q76L83	ASXL2	S	1175	G	S1175G	Likely benign	0	1	33	21
MUT:ASXL2:Ser118Gly	PROT:Q76L83	ASXL2	S	118	G	S118G	Likely benign	0	1	33	18
MUT:ASXL2:Thr776Pro	PROT:Q76L83	ASXL2	T	776	P	T776P	Likely pathogenic	1	1	33	58
MUT:ASXL2:Val1277Ala	PROT:Q76L83	ASXL2	V	1277	A	V1277A	Benign/Likely benign	0	1	33	7
MUT:ATAD5:Arg1448Cys	PROT:Q96QE3	ATAD5	R	1448	C	R1448C	Benign	0	1	59	104
MUT:ATAD5:Arg249Lys	PROT:Q96QE3	ATAD5	R	249	K	R249K	Benign	0	1	59	19
MUT:ATAD5:Asn1767Ser	PROT:Q96QE3	ATAD5	N	1767	S	N1767S	Benign	0	6	59	15
MUT:ATAD5:Asn699His	PROT:Q96QE3	ATAD5	N	699	H	N699H	Benign	0	1	59	22
MUT:ATAD5:Asp140Asn	PROT:Q96QE3	ATAD5	D	140	N	D140N	Likely benign	0	1	59	1
MUT:ATAD5:Glu135Gly	PROT:Q96QE3	ATAD5	E	135	G	E135G	Benign	0	1	59	2
MUT:ATAD5:Glu298Lys	PROT:Q96QE3	ATAD5	E	298	K	E298K	Likely benign	0	1	59	56
MUT:ATAD5:Leu1030Phe	PROT:Q96QE3	ATAD5	L	1030	F	L1030F	Benign	0	1	59	44
MUT:ATAD5:Lys1246Gln	PROT:Q96QE3	ATAD5	K	1246	Q	K1246Q	Likely benign	0	1	59	2
MUT:ATAD5:Phe1324Leu	PROT:Q96QE3	ATAD5	F	1324	L	F1324L	Benign	0	1	59	38
MUT:ATAD5:Pro87Ser	PROT:Q96QE3	ATAD5	P	87	S	P87S	Benign	0	1	59	7
MUT:ATAD5:Thr35Ser	PROT:Q96QE3	ATAD5	T	35	S	T35S	Benign	0	1	59	9
MUT:ATAD5:Tyr1419His	PROT:Q96QE3	ATAD5	Y	1419	H	Y1419H	Benign	0	1	59	133
MUT:ATF6:Ala278Val	PROT:P18850	ATF6	A	278	V	A278V	Benign	0	1	11	61
MUT:ATF6:Ala340Pro	PROT:P18850	ATF6	A	340	P	A340P	Likely pathogenic	1	1	11	1
MUT:ATF6:Arg106Gln	PROT:P18850	ATF6	R	106	Q	R106Q	Likely benign	0	1	11	5
MUT:ATF6:Arg317Gln	PROT:P18850	ATF6	R	317	Q	R317Q	Likely pathogenic	1	1	11	22
MUT:ATF6:Arg324Cys	PROT:P18850	ATF6	R	324	C	R324C	Pathogenic	1	3	11	15
MUT:ATF6:Asp639Glu	PROT:P18850	ATF6	D	639	E	D639E	Likely benign	0	1	11	7
MUT:ATF6:Lys285Arg	PROT:P18850	ATF6	K	285	R	K285R	Likely pathogenic	1	1	11	54
MUT:ATF6:Lys87Met	PROT:P18850	ATF6	K	87	M	K87M	Likely benign	0	1	11	0
MUT:ATF6:Met1Ile	PROT:P18850	ATF6	M	1	I	M1I	Pathogenic	1	1	11	15
MUT:ATF6:Met397Ile	PROT:P18850	ATF6	M	397	I	M397I	Likely benign	0	1	11	39
MUT:ATF6:Met67Val	PROT:P18850	ATF6	M	67	V	M67V	Benign	0	1	11	20
MUT:ATF6:Ser16Ile	PROT:P18850	ATF6	S	16	I	S16I	Benign/Likely benign	0	1	11	0
MUT:ATF6:Tyr567Asn	PROT:P18850	ATF6	Y	567	N	Y567N	Pathogenic	1	2	11	2
MUT:ATG4D:Ala295Asp	PROT:Q86TL0	ATG4D	A	295	D	A295D	Pathogenic	1	1	8	3
MUT:ATG4D:Arg125Leu	PROT:Q86TL0	ATG4D	R	125	L	R125L	Pathogenic	1	1	8	61
MUT:ATG4D:Asp356Asn	PROT:Q86TL0	ATG4D	D	356	N	D356N	Pathogenic	1	1	8	32
MUT:ATG4D:Val273Ile	PROT:Q86TL0	ATG4D	V	273	I	V273I	Pathogenic	1	1	8	9
MUT:ATG4D:Val395Met	PROT:Q86TL0	ATG4D	V	395	M	V395M	Pathogenic	1	1	8	7
MUT:ATG5:Met129Val	PROT:Q9H1Y0	ATG5	M	129	V	M129V	Benign	0	1	7	9
MUT:ATG7:Ala276Val	PROT:O95352	ATG7	A	276	V	A276V	Likely benign	0	1	9	24
MUT:ATG7:Ala530Thr	PROT:O95352	ATG7	A	530	T	A530T	Likely benign	0	1	9	1
MUT:ATG7:Arg576His	PROT:O95352	ATG7	R	576	H	R576H	Pathogenic	1	1	9	45
MUT:ATG7:Gln261Arg	PROT:O95352	ATG7	Q	261	R	Q261R	Pathogenic	1	1	9	39
MUT:ATG7:Gly511Asp	PROT:O95352	ATG7	G	511	D	G511D	Pathogenic	1	1	9	20
MUT:ATG7:His624Tyr	PROT:O95352	ATG7	H	624	Y	H624Y	Pathogenic	1	1	9	28
MUT:ATG7:Val471Ala	PROT:O95352	ATG7	V	471	A	V471A	Benign/Likely benign	0	2	9	60
MUT:ATL3:Ala11Ser	PROT:Q6DD88	ATL3	A	11	S	A11S	Benign	0	1	22	8
MUT:ATL3:Arg319Trp	PROT:Q6DD88	ATL3	R	319	W	R319W	Likely benign	0	1	22	4
MUT:ATL3:Asp198Val	PROT:Q6DD88	ATL3	D	198	V	D198V	Likely benign	0	1	22	41
MUT:ATL3:Asp537Asn	PROT:Q6DD88	ATL3	D	537	N	D537N	Likely benign	0	1	22	2
MUT:ATL3:Ile362Val	PROT:Q6DD88	ATL3	I	362	V	I362V	Likely benign	0	1	22	15
MUT:ATL3:Ile518Val	PROT:Q6DD88	ATL3	I	518	V	I518V	Likely benign	0	1	22	17
MUT:ATL3:Pro338Arg	PROT:Q6DD88	ATL3	P	338	R	P338R	Pathogenic	1	1	22	3
MUT:ATL3:Tyr192Cys	PROT:Q6DD88	ATL3	Y	192	C	Y192C	Pathogenic	1	1	22	47
MUT:ATL3:Val125Ile	PROT:Q6DD88	ATL3	V	125	I	V125I	Benign/Likely benign	0	2	22	5
MUT:ATL3:Val437Ile	PROT:Q6DD88	ATL3	V	437	I	V437I	Likely benign	0	1	22	7
MUT:ATM:Ala1110Pro	PROT:Q13315	ATM	A	1110	P	A1110P	Likely benign	0	1	133	1
MUT:ATM:Ala1309Thr	PROT:Q13315	ATM	A	1309	T	A1309T	Benign	0	7	133	8
MUT:ATM:Ala1426Gly	PROT:Q13315	ATM	A	1426	G	A1426G	Likely benign	0	1	133	11
MUT:ATM:Ala1427Val	PROT:Q13315	ATM	A	1427	V	A1427V	Likely benign	0	1	133	12
MUT:ATM:Ala193Ser	PROT:Q13315	ATM	A	193	S	A193S	Benign	0	1	133	3
MUT:ATM:Ala1942Val	PROT:Q13315	ATM	A	1942	V	A1942V	Pathogenic/Likely pathogenic	1	4	133	27
MUT:ATM:Ala2067Asp	PROT:Q13315	ATM	A	2067	D	A2067D	Pathogenic/Likely pathogenic	1	7	133	22
MUT:ATM:Ala20Gly	PROT:Q13315	ATM	A	20	G	A20G	Likely pathogenic	1	2	133	19
MUT:ATM:Ala216Thr	PROT:Q13315	ATM	A	216	T	A216T	Likely benign	0	1	133	1
MUT:ATM:Ala2324Thr	PROT:Q13315	ATM	A	2324	T	A2324T	Likely benign	0	1	133	6
MUT:ATM:Ala2368Val	PROT:Q13315	ATM	A	2368	V	A2368V	Likely benign	0	1	133	38
MUT:ATM:Ala2524Pro	PROT:Q13315	ATM	A	2524	P	A2524P	Pathogenic/Likely pathogenic	1	2	133	9
MUT:ATM:Ala2622Val	PROT:Q13315	ATM	A	2622	V	A2622V	Pathogenic/Likely pathogenic	1	3	133	21
MUT:ATM:Ala2626Pro	PROT:Q13315	ATM	A	2626	P	A2626P	Pathogenic	1	1	133	17
MUT:ATM:Arg1095Ile	PROT:Q13315	ATM	R	1095	I	R1095I	Likely pathogenic	1	1	133	6
MUT:ATM:Arg1095Lys	PROT:Q13315	ATM	R	1095	K	R1095K	Likely pathogenic	1	4	133	6
MUT:ATM:Arg1095Thr	PROT:Q13315	ATM	R	1095	T	R1095T	Likely pathogenic	1	2	133	6
MUT:ATM:Arg1205Gly	PROT:Q13315	ATM	R	1205	G	R1205G	Likely benign	0	1	133	9
MUT:ATM:Arg1898Gln	PROT:Q13315	ATM	R	1898	Q	R1898Q	Likely benign	0	7	133	5
MUT:ATM:Arg189Lys	PROT:Q13315	ATM	R	189	K	R189K	Benign/Likely benign	0	2	133	7
MUT:ATM:Arg2032Lys	PROT:Q13315	ATM	R	2032	K	R2032K	Pathogenic/Likely pathogenic	1	11	133	1
MUT:ATM:Arg2227Cys	PROT:Q13315	ATM	R	2227	C	R2227C	Pathogenic/Likely pathogenic	1	5	133	20
MUT:ATM:Arg248Leu	PROT:Q13315	ATM	R	248	L	R248L	Likely pathogenic	1	4	133	33
MUT:ATM:Arg2832Cys	PROT:Q13315	ATM	R	2832	C	R2832C	Likely pathogenic	1	7	133	16
MUT:ATM:Arg2832Leu	PROT:Q13315	ATM	R	2832	L	R2832L	Pathogenic/Likely pathogenic	1	3	133	16
MUT:ATM:Arg2849Pro	PROT:Q13315	ATM	R	2849	P	R2849P	Likely pathogenic	1	4	133	1
MUT:ATM:Arg2909Thr	PROT:Q13315	ATM	R	2909	T	R2909T	Likely pathogenic	1	1	133	61
MUT:ATM:Arg3008Cys	PROT:Q13315	ATM	R	3008	C	R3008C	Likely pathogenic	1	6	133	4
MUT:ATM:Arg3008His	PROT:Q13315	ATM	R	3008	H	R3008H	Pathogenic/Likely pathogenic	1	9	133	4
MUT:ATM:Asn1356Lys	PROT:Q13315	ATM	N	1356	K	N1356K	Likely benign	0	1	133	33
MUT:ATM:Asn1650Ser	PROT:Q13315	ATM	N	1650	S	N1650S	Benign/Likely benign	0	4	133	5
MUT:ATM:Asn1801His	PROT:Q13315	ATM	N	1801	H	N1801H	Likely benign	0	1	133	19
MUT:ATM:Asn2326Lys	PROT:Q13315	ATM	N	2326	K	N2326K	Likely benign	0	1	133	8
MUT:ATM:Asn2370Ser	PROT:Q13315	ATM	N	2370	S	N2370S	Likely benign	0	1	133	36
MUT:ATM:Asn246Asp	PROT:Q13315	ATM	N	246	D	N246D	Likely benign	0	1	133	31
MUT:ATM:Asn338Ser	PROT:Q13315	ATM	N	338	S	N338S	Benign	0	1	133	6
MUT:ATM:Asn358Ser	PROT:Q13315	ATM	N	358	S	N358S	Benign	0	7	133	9
MUT:ATM:Asn429Thr	PROT:Q13315	ATM	N	429	T	N429T	Likely benign	0	1	133	11
MUT:ATM:Asp1007Asn	PROT:Q13315	ATM	D	1007	N	D1007N	Likely benign	0	1	133	19
MUT:ATM:Asp126Glu	PROT:Q13315	ATM	D	126	E	D126E	Benign/Likely benign	0	6	133	10
MUT:ATM:Asp1853Asn	PROT:Q13315	ATM	D	1853	N	D1853N	Benign	0	5	133	25
MUT:ATM:Asp1969Val	PROT:Q13315	ATM	D	1969	V	D1969V	Likely benign	0	1	133	12
MUT:ATM:Asp2016Gly	PROT:Q13315	ATM	D	2016	G	D2016G	Likely pathogenic	1	6	133	3
MUT:ATM:Asp2597Tyr	PROT:Q13315	ATM	D	2597	Y	D2597Y	Likely pathogenic	1	2	133	5
MUT:ATM:Asp2625Glu	PROT:Q13315	ATM	D	2625	E	D2625E	Pathogenic	1	1	133	18
MUT:ATM:Asp2708Asn	PROT:Q13315	ATM	D	2708	N	D2708N	Pathogenic/Likely pathogenic	1	8	133	2
MUT:ATM:Asp2708Glu	PROT:Q13315	ATM	D	2708	E	D2708E	Pathogenic	1	2	133	2
MUT:ATM:Asp2708His	PROT:Q13315	ATM	D	2708	H	D2708H	Likely pathogenic	1	2	133	2
MUT:ATM:Asp2721Asn	PROT:Q13315	ATM	D	2721	N	D2721N	Likely pathogenic	1	3	133	11
MUT:ATM:Asp2913Tyr	PROT:Q13315	ATM	D	2913	Y	D2913Y	Pathogenic/Likely pathogenic	1	4	133	65
MUT:ATM:Asp2976Glu	PROT:Q13315	ATM	D	2976	E	D2976E	Likely benign	0	1	133	16
MUT:ATM:Asp814Glu	PROT:Q13315	ATM	D	814	E	D814E	Benign	0	6	133	4
MUT:ATM:Asp860Glu	PROT:Q13315	ATM	D	860	E	D860E	Likely benign	0	1	133	40
MUT:ATM:Cys1366Tyr	PROT:Q13315	ATM	C	1366	Y	C1366Y	Likely benign	0	1	133	32
MUT:ATM:Cys669Tyr	PROT:Q13315	ATM	C	669	Y	C669Y	Likely benign	0	1	133	4
MUT:ATM:Cys693Tyr	PROT:Q13315	ATM	C	693	Y	C693Y	Likely benign	0	1	133	20
MUT:ATM:Cys977Arg	PROT:Q13315	ATM	C	977	R	C977R	Likely pathogenic	1	2	133	11
MUT:ATM:Gln1128Arg	PROT:Q13315	ATM	Q	1128	R	Q1128R	Benign/Likely benign	0	5	133	2
MUT:ATM:Gln1478His	PROT:Q13315	ATM	Q	1478	H	Q1478H	Likely benign	0	2	133	63
MUT:ATM:Gln1982His	PROT:Q13315	ATM	Q	1982	H	Q1982H	Likely benign	0	1	133	1
MUT:ATM:Gln2637Arg	PROT:Q13315	ATM	Q	2637	R	Q2637R	Likely benign	0	1	133	6
MUT:ATM:Gln2730Pro	PROT:Q13315	ATM	Q	2730	P	Q2730P	Likely pathogenic	1	1	133	20
MUT:ATM:Gln3038Lys	PROT:Q13315	ATM	Q	3038	K	Q3038K	Likely benign	0	1	133	15
MUT:ATM:Gln476Glu	PROT:Q13315	ATM	Q	476	E	Q476E	Likely benign	0	1	133	1
MUT:ATM:Gln584Lys	PROT:Q13315	ATM	Q	584	K	Q584K	Likely benign	0	1	133	11
MUT:ATM:Glu1031Asp	PROT:Q13315	ATM	E	1031	D	E1031D	Likely pathogenic	1	1	133	26
MUT:ATM:Glu1553Lys	PROT:Q13315	ATM	E	1553	K	E1553K	Benign	0	1	133	19
MUT:ATM:Glu1592Val	PROT:Q13315	ATM	E	1592	V	E1592V	Pathogenic	1	1	133	12
MUT:ATM:Glu1669Lys	PROT:Q13315	ATM	E	1669	K	E1669K	Likely pathogenic	1	1	133	4
MUT:ATM:Glu166Gln	PROT:Q13315	ATM	E	166	Q	E166Q	Pathogenic	1	1	133	11
MUT:ATM:Glu1894Asp	PROT:Q13315	ATM	E	1894	D	E1894D	Likely benign	0	1	133	1
MUT:ATM:Glu1995Asp	PROT:Q13315	ATM	E	1995	D	E1995D	Likely benign	0	1	133	1
MUT:ATM:Glu2145Val	PROT:Q13315	ATM	E	2145	V	E2145V	Likely pathogenic	1	1	133	3
MUT:ATM:Glu2596Asp	PROT:Q13315	ATM	E	2596	D	E2596D	Pathogenic/Likely pathogenic	1	3	133	4
MUT:ATM:Glu2596Val	PROT:Q13315	ATM	E	2596	V	E2596V	Likely pathogenic	1	1	133	4
MUT:ATM:Glu26Gln	PROT:Q13315	ATM	E	26	Q	E26Q	Likely benign	0	4	133	13
MUT:ATM:Glu2807Asp	PROT:Q13315	ATM	E	2807	D	E2807D	Likely benign	0	2	133	4
MUT:ATM:Glu2904Gly	PROT:Q13315	ATM	E	2904	G	E2904G	Likely pathogenic	1	3	133	56
MUT:ATM:Glu2979Ala	PROT:Q13315	ATM	E	2979	A	E2979A	Likely benign	0	1	133	13
MUT:ATM:Glu394Asp	PROT:Q13315	ATM	E	394	D	E394D	Likely benign	0	1	133	3
MUT:ATM:Glu699Gly	PROT:Q13315	ATM	E	699	G	E699G	Benign/Likely benign	0	6	133	26
MUT:ATM:Glu739Gly	PROT:Q13315	ATM	E	739	G	E739G	Likely benign	0	1	133	9
MUT:ATM:Glu834Asp	PROT:Q13315	ATM	E	834	D	E834D	Benign	0	1	133	14
MUT:ATM:Glu850Gln	PROT:Q13315	ATM	E	850	Q	E850Q	Likely benign	0	1	133	30
MUT:ATM:Gly1065Arg	PROT:Q13315	ATM	G	1065	R	G1065R	Likely benign	0	1	133	8
MUT:ATM:Gly1746Arg	PROT:Q13315	ATM	G	1746	R	G1746R	Pathogenic	1	4	133	2
MUT:ATM:Gly2502Ser	PROT:Q13315	ATM	G	2502	S	G2502S	Likely benign	0	1	133	3
MUT:ATM:Gly2678Glu	PROT:Q13315	ATM	G	2678	E	G2678E	Likely benign	0	1	133	21
MUT:ATM:Gly2765Ala	PROT:Q13315	ATM	G	2765	A	G2765A	Likely pathogenic	1	2	133	24
MUT:ATM:Gly2765Arg	PROT:Q13315	ATM	G	2765	R	G2765R	Likely pathogenic	1	1	133	24
MUT:ATM:Gly2765Ser	PROT:Q13315	ATM	G	2765	S	G2765S	Pathogenic/Likely pathogenic	1	3	133	24
MUT:ATM:Gly2765Val	PROT:Q13315	ATM	G	2765	V	G2765V	Pathogenic/Likely pathogenic	1	2	133	24
MUT:ATM:Gly514Asp	PROT:Q13315	ATM	G	514	D	G514D	Benign/Likely benign	0	6	133	37
MUT:ATM:Gly587Ala	PROT:Q13315	ATM	G	587	A	G587A	Likely benign	0	1	133	14
MUT:ATM:His1083Arg	PROT:Q13315	ATM	H	1083	R	H1083R	Pathogenic/Likely pathogenic	1	3	133	18
MUT:ATM:His1380Tyr	PROT:Q13315	ATM	H	1380	Y	H1380Y	Benign	0	5	133	18
MUT:ATM:His1568Leu	PROT:Q13315	ATM	H	1568	L	H1568L	Likely benign	0	2	133	4
MUT:ATM:His2195Asp	PROT:Q13315	ATM	H	2195	D	H2195D	Likely benign	0	1	133	4
MUT:ATM:His42Tyr	PROT:Q13315	ATM	H	42	Y	H42Y	Likely benign	0	1	133	1
MUT:ATM:His46Tyr	PROT:Q13315	ATM	H	46	Y	H46Y	Likely benign	0	1	133	1
MUT:ATM:Ile1022Ser	PROT:Q13315	ATM	I	1022	S	I1022S	Likely pathogenic	1	1	133	34
MUT:ATM:Ile1158Val	PROT:Q13315	ATM	I	1158	V	I1158V	Likely benign	0	1	133	23
MUT:ATM:Ile124Val	PROT:Q13315	ATM	I	124	V	I124V	Benign/Likely benign	0	4	133	8
MUT:ATM:Ile1256Val	PROT:Q13315	ATM	I	1256	V	I1256V	Benign	0	1	133	13
MUT:ATM:Ile1337Val	PROT:Q13315	ATM	I	1337	V	I1337V	Likely benign	0	1	133	14
MUT:ATM:Ile1823Val	PROT:Q13315	ATM	I	1823	V	I1823V	Likely benign	0	1	133	5
MUT:ATM:Ile190Lys	PROT:Q13315	ATM	I	190	K	I190K	Benign	0	1	133	6
MUT:ATM:Ile2030Val	PROT:Q13315	ATM	I	2030	V	I2030V	Benign/Likely benign	0	6	133	1
MUT:ATM:Ile2702Arg	PROT:Q13315	ATM	I	2702	R	I2702R	Pathogenic/Likely pathogenic	1	2	133	8
MUT:ATM:Ile2702Lys	PROT:Q13315	ATM	I	2702	K	I2702K	Likely pathogenic	1	1	133	8
MUT:ATM:Ile323Val	PROT:Q13315	ATM	I	323	V	I323V	Pathogenic/Likely pathogenic	1	4	133	8
MUT:ATM:Ile678Val	PROT:Q13315	ATM	I	678	V	I678V	Likely benign	0	1	133	5
MUT:ATM:Leu1046Pro	PROT:Q13315	ATM	L	1046	P	L1046P	Likely pathogenic	1	4	133	11
MUT:ATM:Leu1283Pro	PROT:Q13315	ATM	L	1283	P	L1283P	Pathogenic/Likely pathogenic	1	4	133	3
MUT:ATM:Leu1420Phe	PROT:Q13315	ATM	L	1420	F	L1420F	Benign/Likely benign	0	6	133	5
MUT:ATM:Leu1465Pro	PROT:Q13315	ATM	L	1465	P	L1465P	Likely pathogenic	1	4	133	50
MUT:ATM:Leu1623Arg	PROT:Q13315	ATM	L	1623	R	L1623R	Likely benign	0	1	133	2
MUT:ATM:Leu1874Phe	PROT:Q13315	ATM	L	1874	F	L1874F	Likely benign	0	1	133	9
MUT:ATM:Leu2068Ser	PROT:Q13315	ATM	L	2068	S	L2068S	Likely pathogenic	1	3	133	21
MUT:ATM:Leu229Ile	PROT:Q13315	ATM	L	229	I	L229I	Likely benign	0	1	133	14
MUT:ATM:Leu2332Pro	PROT:Q13315	ATM	L	2332	P	L2332P	Benign	0	7	133	14
MUT:ATM:Leu2452Pro	PROT:Q13315	ATM	L	2452	P	L2452P	Likely pathogenic	1	3	133	12
MUT:ATM:Leu2656Pro	PROT:Q13315	ATM	L	2656	P	L2656P	Likely pathogenic	1	1	133	1
MUT:ATM:Leu2767Pro	PROT:Q13315	ATM	L	2767	P	L2767P	Likely pathogenic	1	2	133	22
MUT:ATM:Leu2780Pro	PROT:Q13315	ATM	L	2780	P	L2780P	Pathogenic	1	1	133	9
MUT:ATM:Leu2984Pro	PROT:Q13315	ATM	L	2984	P	L2984P	Likely benign	0	1	133	8
MUT:ATM:Leu3035Phe	PROT:Q13315	ATM	L	3035	F	L3035F	Likely pathogenic	1	3	133	18
MUT:ATM:Leu546Val	PROT:Q13315	ATM	L	546	V	L546V	Benign/Likely benign	0	5	133	23
MUT:ATM:Leu615Pro	PROT:Q13315	ATM	L	615	P	L615P	Likely pathogenic	1	4	133	42
MUT:ATM:Leu643Pro	PROT:Q13315	ATM	L	643	P	L643P	Likely benign	0	1	133	30
MUT:ATM:Leu950Arg	PROT:Q13315	ATM	L	950	R	L950R	Likely pathogenic	1	3	133	24
MUT:ATM:Lys102Gln	PROT:Q13315	ATM	K	102	Q	K102Q	Likely benign	0	1	133	4
MUT:ATM:Lys1057Glu	PROT:Q13315	ATM	K	1057	E	K1057E	Likely benign	0	1	133	0
MUT:ATM:Lys1192Asn	PROT:Q13315	ATM	K	1192	N	K1192N	Likely pathogenic	1	3	133	4
MUT:ATM:Lys1625Asn	PROT:Q13315	ATM	K	1625	N	K1625N	Likely benign	0	1	133	0
MUT:ATM:Lys1904Asn	PROT:Q13315	ATM	K	1904	N	K1904N	Likely benign	0	1	133	4
MUT:ATM:Lys196Glu	PROT:Q13315	ATM	K	196	E	K196E	Likely benign	0	1	133	0
MUT:ATM:Lys1994Asn	PROT:Q13315	ATM	K	1994	N	K1994N	Likely benign	0	1	133	0
MUT:ATM:Lys2266Asn	PROT:Q13315	ATM	K	2266	N	K2266N	Likely pathogenic	1	2	133	0
MUT:ATM:Lys2363Asn	PROT:Q13315	ATM	K	2363	N	K2363N	Likely pathogenic	1	4	133	43
MUT:ATM:Lys2421Gln	PROT:Q13315	ATM	K	2421	Q	K2421Q	Likely pathogenic	1	1	133	0
MUT:ATM:Lys24Asn	PROT:Q13315	ATM	K	24	N	K24N	Pathogenic	1	1	133	15
MUT:ATM:Lys2639Gln	PROT:Q13315	ATM	K	2639	Q	K2639Q	Likely pathogenic	1	1	133	4
MUT:ATM:Lys2670Asn	PROT:Q13315	ATM	K	2670	N	K2670N	Likely pathogenic	1	1	133	13
MUT:ATM:Lys2717Arg	PROT:Q13315	ATM	K	2717	R	K2717R	Pathogenic/Likely pathogenic	1	3	133	7
MUT:ATM:Lys388Gln	PROT:Q13315	ATM	K	388	Q	K388Q	Likely benign	0	1	133	3
MUT:ATM:Lys556Asn	PROT:Q13315	ATM	K	556	N	K556N	Likely benign	0	1	133	13
MUT:ATM:Lys66Arg	PROT:Q13315	ATM	K	66	R	K66R	Likely benign	0	1	133	0
MUT:ATM:Met1040Val	PROT:Q13315	ATM	M	1040	V	M1040V	Benign	0	7	133	17
MUT:ATM:Met1Ile	PROT:Q13315	ATM	M	1	I	M1I	Pathogenic/Likely pathogenic	1	3	133	38
MUT:ATM:Met1Leu	PROT:Q13315	ATM	M	1	L	M1L	Pathogenic/Likely pathogenic	1	3	133	38
MUT:ATM:Met1Thr	PROT:Q13315	ATM	M	1	T	M1T	Pathogenic	1	4	133	38
MUT:ATM:Met1Val	PROT:Q13315	ATM	M	1	V	M1V	Pathogenic/Likely pathogenic	1	4	133	38
MUT:ATM:Met2239Ile	PROT:Q13315	ATM	M	2239	I	M2239I	Likely benign	0	2	133	9
MUT:ATM:Met2806Leu	PROT:Q13315	ATM	M	2806	L	M2806L	Likely benign	0	1	133	3
MUT:ATM:Met838Arg	PROT:Q13315	ATM	M	838	R	M838R	Likely benign	0	1	133	18
MUT:ATM:Phe168Tyr	PROT:Q13315	ATM	F	168	Y	F168Y	Likely benign	0	1	133	9
MUT:ATM:Phe209Val	PROT:Q13315	ATM	F	209	V	F209V	Likely benign	0	1	133	1
MUT:ATM:Phe2827Cys	PROT:Q13315	ATM	F	2827	C	F2827C	Likely pathogenic	1	5	133	15
MUT:ATM:Phe662Ile	PROT:Q13315	ATM	F	662	I	F662I	Likely benign	0	1	133	11
MUT:ATM:Phe858Leu	PROT:Q13315	ATM	F	858	L	F858L	Benign/Likely benign	0	7	133	38
MUT:ATM:Phe858Ser	PROT:Q13315	ATM	F	858	S	F858S	Likely benign	0	1	133	38
MUT:ATM:Pro1054Arg	PROT:Q13315	ATM	P	1054	R	P1054R	Benign/Likely benign	0	5	133	3
MUT:ATM:Pro1069Ser	PROT:Q13315	ATM	P	1069	S	P1069S	Likely benign	0	1	133	12
MUT:ATM:Pro1785His	PROT:Q13315	ATM	P	1785	H	P1785H	Likely benign	0	1	133	3
MUT:ATM:Pro2829Ser	PROT:Q13315	ATM	P	2829	S	P2829S	Likely pathogenic	1	1	133	17
MUT:ATM:Pro292Leu	PROT:Q13315	ATM	P	292	L	P292L	Likely pathogenic	1	6	133	5
MUT:ATM:Pro604Ser	PROT:Q13315	ATM	P	604	S	P604S	Benign	0	8	133	31
MUT:ATM:Pro862Thr	PROT:Q13315	ATM	P	862	T	P862T	Likely benign	0	1	133	42
MUT:ATM:Pro872Ser	PROT:Q13315	ATM	P	872	S	P872S	Benign	0	7	133	52
MUT:ATM:Ser1306Gly	PROT:Q13315	ATM	S	1306	G	S1306G	Likely benign	0	1	133	11
MUT:ATM:Ser1635Phe	PROT:Q13315	ATM	S	1635	F	S1635F	Likely benign	0	1	133	10
MUT:ATM:Ser1770Leu	PROT:Q13315	ATM	S	1770	L	S1770L	Likely pathogenic	1	1	133	3
MUT:ATM:Ser1981Asn	PROT:Q13315	ATM	S	1981	N	S1981N	Likely benign	0	1	133	0
MUT:ATM:Ser1983Asn	PROT:Q13315	ATM	S	1983	N	S1983N	Benign	0	3	133	2
MUT:ATM:Ser2114Cys	PROT:Q13315	ATM	S	2114	C	S2114C	Likely benign	0	1	133	25
MUT:ATM:Ser2123Asn	PROT:Q13315	ATM	S	2123	N	S2123N	Likely benign	0	1	133	25
MUT:ATM:Ser2218Asn	PROT:Q13315	ATM	S	2218	N	S2218N	Likely benign	0	1	133	11
MUT:ATM:Ser2329Asn	PROT:Q13315	ATM	S	2329	N	S2329N	Likely benign	0	1	133	11
MUT:ATM:Ser2376Asn	PROT:Q13315	ATM	S	2376	N	S2376N	Likely benign	0	1	133	30
MUT:ATM:Ser2394Leu	PROT:Q13315	ATM	S	2394	L	S2394L	Pathogenic/Likely pathogenic	1	3	133	12
MUT:ATM:Ser2855Arg	PROT:Q13315	ATM	S	2855	R	S2855R	Pathogenic/Likely pathogenic	1	4	133	7
MUT:ATM:Ser2855Ile	PROT:Q13315	ATM	S	2855	I	S2855I	Likely pathogenic	1	1	133	7
MUT:ATM:Ser49Cys	PROT:Q13315	ATM	S	49	C	S49C	Benign	0	8	133	0
MUT:ATM:Ser707Pro	PROT:Q13315	ATM	S	707	P	S707P	Benign/Likely benign	0	3	133	34
MUT:ATM:Ser707Thr	PROT:Q13315	ATM	S	707	T	S707T	Likely benign	0	1	133	34
MUT:ATM:Ser788Arg	PROT:Q13315	ATM	S	788	R	S788R	Benign/Likely benign	0	6	133	6
MUT:ATM:Ser978Pro	PROT:Q13315	ATM	S	978	P	S978P	Benign	0	6	133	10
MUT:ATM:Thr1100Arg	PROT:Q13315	ATM	T	1100	R	T1100R	Likely benign	0	1	133	1
MUT:ATM:Thr1697Ile	PROT:Q13315	ATM	T	1697	I	T1697I	Likely benign	0	1	133	1
MUT:ATM:Thr1743Ile	PROT:Q13315	ATM	T	1743	I	T1743I	Pathogenic	1	4	133	1
MUT:ATM:Thr1769Lys	PROT:Q13315	ATM	T	1769	K	T1769K	Likely benign	0	1	133	4
MUT:ATM:Thr1854Ala	PROT:Q13315	ATM	T	1854	A	T1854A	Likely benign	0	1	133	26
MUT:ATM:Thr2666Asn	PROT:Q13315	ATM	T	2666	N	T2666N	Pathogenic/Likely pathogenic	1	3	133	9
MUT:ATM:Thr2666Ile	PROT:Q13315	ATM	T	2666	I	T2666I	Likely pathogenic	1	1	133	9
MUT:ATM:Thr2682Ser	PROT:Q13315	ATM	T	2682	S	T2682S	Pathogenic	1	3	133	25
MUT:ATM:Thr417Asn	PROT:Q13315	ATM	T	417	N	T417N	Likely benign	0	1	133	20
MUT:ATM:Thr460Ala	PROT:Q13315	ATM	T	460	A	T460A	Likely benign	0	1	133	8
MUT:ATM:Thr548Asn	PROT:Q13315	ATM	T	548	N	T548N	Benign	0	1	133	21
MUT:ATM:Thr593Ala	PROT:Q13315	ATM	T	593	A	T593A	Likely benign	0	1	133	20
MUT:ATM:Thr878Ser	PROT:Q13315	ATM	T	878	S	T878S	Likely benign	0	1	133	48
MUT:ATM:Trp1026Cys	PROT:Q13315	ATM	W	1026	C	W1026C	Pathogenic/Likely pathogenic	1	4	133	31
MUT:ATM:Trp412Ser	PROT:Q13315	ATM	W	412	S	W412S	Likely pathogenic	1	1	133	15
MUT:ATM:Tyr1300Ser	PROT:Q13315	ATM	Y	1300	S	Y1300S	Likely benign	0	1	133	17
MUT:ATM:Tyr2080Asp	PROT:Q13315	ATM	Y	2080	D	Y2080D	Likely pathogenic	1	1	133	9
MUT:ATM:Tyr2470Asp	PROT:Q13315	ATM	Y	2470	D	Y2470D	Pathogenic/Likely pathogenic	1	3	133	30
MUT:ATM:Tyr2627His	PROT:Q13315	ATM	Y	2627	H	Y2627H	Likely pathogenic	1	3	133	16
MUT:ATM:Tyr2677Cys	PROT:Q13315	ATM	Y	2677	C	Y2677C	Likely pathogenic	1	4	133	20
MUT:ATM:Tyr54Phe	PROT:Q13315	ATM	Y	54	F	Y54F	Likely benign	0	1	133	0
MUT:ATM:Val182Leu	PROT:Q13315	ATM	V	182	L	V182L	Benign/Likely benign	0	5	133	5
MUT:ATM:Val1941Leu	PROT:Q13315	ATM	V	1941	L	V1941L	Likely benign	0	7	133	26
MUT:ATM:Val2079Ile	PROT:Q13315	ATM	V	2079	I	V2079I	Benign/Likely benign	0	6	133	10
MUT:ATM:Val2424Gly	PROT:Q13315	ATM	V	2424	G	V2424G	Pathogenic	1	12	133	3
MUT:ATM:Val2662Asp	PROT:Q13315	ATM	V	2662	D	V2662D	Pathogenic/Likely pathogenic	1	3	133	5
MUT:ATM:Val2716Ala	PROT:Q13315	ATM	V	2716	A	V2716A	Pathogenic/Likely pathogenic	1	9	133	6
MUT:ATM:Val2716Phe	PROT:Q13315	ATM	V	2716	F	V2716F	Pathogenic/Likely pathogenic	1	1	133	6
MUT:ATM:Val3005Ile	PROT:Q13315	ATM	V	3005	I	V3005I	Likely benign	0	1	133	1
MUT:ATM:Val849Met	PROT:Q13315	ATM	V	849	M	V849M	Likely benign	0	1	133	29
MUT:ATM:Val866Gly	PROT:Q13315	ATM	V	866	G	V866G	Likely benign	0	1	133	46
MUT:ATN1:Ala1032Glu	PROT:P54259	ATN1	A	1032	E	A1032E	Benign	0	1	26	85
MUT:ATN1:Ala1032Val	PROT:P54259	ATN1	A	1032	V	A1032V	Likely benign	0	1	26	85
MUT:ATN1:Ala292Gly	PROT:P54259	ATN1	A	292	G	A292G	Likely benign	0	1	26	63
MUT:ATN1:Ala334Thr	PROT:P54259	ATN1	A	334	T	A334T	Likely benign	0	1	26	21
MUT:ATN1:Ala514Val	PROT:P54259	ATN1	A	514	V	A514V	Likely benign	0	1	26	118
MUT:ATN1:Ala929Thr	PROT:P54259	ATN1	A	929	T	A929T	Benign/Likely benign	0	1	26	18
MUT:ATN1:Arg450His	PROT:P54259	ATN1	R	450	H	R450H	Likely benign	0	1	26	95
MUT:ATN1:Arg943His	PROT:P54259	ATN1	R	943	H	R943H	Likely benign	0	1	26	4
MUT:ATN1:Arg98Leu	PROT:P54259	ATN1	R	98	L	R98L	Likely benign	0	1	26	3
MUT:ATN1:Asn85Ser	PROT:P54259	ATN1	N	85	S	N85S	Likely benign	0	1	26	16
MUT:ATN1:Asp941Glu	PROT:P54259	ATN1	D	941	E	D941E	Benign	0	1	26	6
MUT:ATN1:Gly250Ser	PROT:P54259	ATN1	G	250	S	G250S	Benign	0	1	26	82
MUT:ATN1:His1052Pro	PROT:P54259	ATN1	H	1052	P	H1052P	Pathogenic/Likely pathogenic	1	1	26	105
MUT:ATN1:His1054Asn	PROT:P54259	ATN1	H	1054	N	H1054N	Pathogenic	1	2	26	107
MUT:ATN1:His1056Pro	PROT:P54259	ATN1	H	1056	P	H1056P	Likely pathogenic	1	1	26	109
MUT:ATN1:His1058Tyr	PROT:P54259	ATN1	H	1058	Y	H1058Y	Pathogenic	1	3	26	111
MUT:ATN1:His1060Tyr	PROT:P54259	ATN1	H	1060	Y	H1060Y	Likely pathogenic	1	1	26	113
MUT:ATN1:His1062Arg	PROT:P54259	ATN1	H	1062	R	H1062R	Pathogenic/Likely pathogenic	1	2	26	115
MUT:ATN1:Leu1063Arg	PROT:P54259	ATN1	L	1063	R	L1063R	Pathogenic	1	1	26	116
MUT:ATN1:Lys236Gln	PROT:P54259	ATN1	K	236	Q	K236Q	Benign/Likely benign	0	1	26	68
MUT:ATN1:Met233Val	PROT:P54259	ATN1	M	233	V	M233V	Likely benign	0	1	26	65
MUT:ATN1:Pro171Leu	PROT:P54259	ATN1	P	171	L	P171L	Likely benign	0	1	26	3
MUT:ATN1:Pro179Leu	PROT:P54259	ATN1	P	179	L	P179L	Likely benign	0	1	26	11
MUT:ATN1:Pro215Leu	PROT:P54259	ATN1	P	215	L	P215L	Likely benign	0	1	26	47
MUT:ATN1:Pro275Leu	PROT:P54259	ATN1	P	275	L	P275L	Likely benign	0	1	26	80
MUT:ATN1:Pro415Leu	PROT:P54259	ATN1	P	415	L	P415L	Likely benign	0	1	26	60
MUT:ATN1:Pro509Ala	PROT:P54259	ATN1	P	509	A	P509A	Likely benign	0	1	26	123
MUT:ATN1:Pro633Leu	PROT:P54259	ATN1	P	633	L	P633L	Likely benign	0	1	26	1
MUT:ATN1:Pro743Ala	PROT:P54259	ATN1	P	743	A	P743A	Likely benign	0	1	26	4
MUT:ATN1:Ser1059Leu	PROT:P54259	ATN1	S	1059	L	S1059L	Pathogenic/Likely pathogenic	1	1	26	112
MUT:ATN1:Ser1059Trp	PROT:P54259	ATN1	S	1059	W	S1059W	Likely pathogenic	1	1	26	112
MUT:ATN1:Ser174Gly	PROT:P54259	ATN1	S	174	G	S174G	Likely benign	0	1	26	6
MUT:ATN1:Ser29Leu	PROT:P54259	ATN1	S	29	L	S29L	Likely benign	0	1	26	34
MUT:ATN1:Ser358Cys	PROT:P54259	ATN1	S	358	C	S358C	Likely benign	0	1	26	3
MUT:ATN1:Ser579Ala	PROT:P54259	ATN1	S	579	A	S579A	Likely benign	0	1	26	53
MUT:ATN1:Val906Met	PROT:P54259	ATN1	V	906	M	V906M	Likely benign	0	1	26	41
MUT:ATP11A:Ala513Val	PROT:P98196	ATP11A	A	513	V	A513V	Likely benign	0	1	19	16
MUT:ATP11A:Asn170Ser	PROT:P98196	ATP11A	N	170	S	N170S	Likely benign	0	1	19	33
MUT:ATP11A:Gln84Glu	PROT:P98196	ATP11A	Q	84	E	Q84E	Pathogenic	1	1	19	39
MUT:ATP11A:Gly778Ser	PROT:P98196	ATP11A	G	778	S	G778S	Likely benign	0	1	19	31
MUT:ATP11A:Ser399Leu	PROT:P98196	ATP11A	S	399	L	S399L	Likely pathogenic	1	1	19	60
MUT:ATP11A:Ser4Asn	PROT:P98196	ATP11A	S	4	N	S4N	Pathogenic	1	1	19	36
MUT:ATP11A:Val1043Ile	PROT:P98196	ATP11A	V	1043	I	V1043I	Likely benign	0	1	19	189
MUT:ATP11A:Val503Gly	PROT:P98196	ATP11A	V	503	G	V503G	Benign/Likely benign	0	1	19	9
MUT:ATP11A:Val954Ile	PROT:P98196	ATP11A	V	954	I	V954I	Likely benign	0	1	19	100
MUT:ATP11A:Val986Met	PROT:P98196	ATP11A	V	986	M	V986M	Likely benign	0	1	19	132
MUT:ATP13A2:Ala768Gly	PROT:Q9NQ11	ATP13A2	A	768	G	A768G	Likely benign	0	1	13	36
MUT:ATP13A2:Arg294Gln	PROT:Q9NQ11	ATP13A2	R	294	Q	R294Q	Benign/Likely benign	0	12	13	81
MUT:ATP13A2:Arg563Leu	PROT:Q9NQ11	ATP13A2	R	563	L	R563L	Likely benign	0	1	13	57
MUT:ATP13A2:Gly49Ser	PROT:Q9NQ11	ATP13A2	G	49	S	G49S	Benign/Likely benign	0	1	13	19
MUT:ATP13A2:Gly504Arg	PROT:Q9NQ11	ATP13A2	G	504	R	G504R	Pathogenic/Likely pathogenic	1	3	13	2
MUT:ATP13A2:Gly877Arg	PROT:Q9NQ11	ATP13A2	G	877	R	G877R	Pathogenic	1	1	13	18
MUT:ATP13A2:Ile223Val	PROT:Q9NQ11	ATP13A2	I	223	V	I223V	Likely benign	0	1	13	10
MUT:ATP13A2:Leu1059Arg	PROT:Q9NQ11	ATP13A2	L	1059	R	L1059R	Likely pathogenic	1	1	13	101
MUT:ATP13A2:Met854Arg	PROT:Q9NQ11	ATP13A2	M	854	R	M854R	Pathogenic	1	1	13	5
MUT:ATP13A2:Pro618Ser	PROT:Q9NQ11	ATP13A2	P	618	S	P618S	Likely benign	0	1	13	75
MUT:ATP13A2:Ser908Leu	PROT:Q9NQ11	ATP13A2	S	908	L	S908L	Likely benign	0	1	13	49
MUT:ATP13A2:Thr517Ile	PROT:Q9NQ11	ATP13A2	T	517	I	T517I	Pathogenic	1	1	13	11
MUT:ATP13A2:Val52Ile	PROT:Q9NQ11	ATP13A2	V	52	I	V52I	Likely benign	0	1	13	16
MUT:ATP13A2:Val641Ala	PROT:Q9NQ11	ATP13A2	V	641	A	V641A	Likely benign	0	1	13	52
MUT:ATP13A2:Val698Ala	PROT:Q9NQ11	ATP13A2	V	698	A	V698A	Benign/Likely benign	0	1	13	5
MUT:ATP2B3:Ala1173Val	PROT:Q16720	ATP2B3	A	1173	V	A1173V	Benign	0	1	17	47
MUT:ATP2B3:Ala959Val	PROT:Q16720	ATP2B3	A	959	V	A959V	Likely benign	0	1	17	154
MUT:ATP2B3:Arg1170His	PROT:Q16720	ATP2B3	R	1170	H	R1170H	Likely benign	0	1	17	44
MUT:ATP2B3:Arg588Cys	PROT:Q16720	ATP2B3	R	588	C	R588C	Likely benign	0	1	17	3
MUT:ATP2B3:Arg627Gln	PROT:Q16720	ATP2B3	R	627	Q	R627Q	Likely benign	0	1	17	42
MUT:ATP2B3:Arg738Trp	PROT:Q16720	ATP2B3	R	738	W	R738W	Likely benign	0	1	17	6
MUT:ATP2B3:Asn282His	PROT:Q16720	ATP2B3	N	282	H	N282H	Likely benign	0	1	17	75
MUT:ATP2B3:Asn958Asp	PROT:Q16720	ATP2B3	N	958	D	N958D	Likely benign	0	1	17	155
MUT:ATP2B3:Asp641Asn	PROT:Q16720	ATP2B3	D	641	N	D641N	Likely benign	0	1	17	56
MUT:ATP2B3:Asp952His	PROT:Q16720	ATP2B3	D	952	H	D952H	Likely benign	0	1	17	149
MUT:ATP2B3:Glu44Lys	PROT:Q16720	ATP2B3	E	44	K	E44K	Likely pathogenic	1	1	17	136
MUT:ATP2B3:Glu563Lys	PROT:Q16720	ATP2B3	E	563	K	E563K	Likely benign	0	1	17	15
MUT:ATP2B3:Gly1107Asp	PROT:Q16720	ATP2B3	G	1107	D	G1107D	Likely pathogenic	1	1	17	6
MUT:ATP2B3:Gly1210Arg	PROT:Q16720	ATP2B3	G	1210	R	G1210R	Likely benign	0	1	17	84
MUT:ATP2B3:Gly296Arg	PROT:Q16720	ATP2B3	G	296	R	G296R	Likely benign	0	1	17	61
MUT:ATP2B3:Gly549Ala	PROT:Q16720	ATP2B3	G	549	A	G549A	Likely benign	0	1	17	6
MUT:ATP2B3:Gly656Asp	PROT:Q16720	ATP2B3	G	656	D	G656D	Likely benign	0	1	17	71
MUT:ATP2B3:Ile516Val	PROT:Q16720	ATP2B3	I	516	V	I516V	Likely benign	0	1	17	27
MUT:ATP2B3:Leu1039Phe	PROT:Q16720	ATP2B3	L	1039	F	L1039F	Benign	0	1	17	74
MUT:ATP2B3:Leu619Pro	PROT:Q16720	ATP2B3	L	619	P	L619P	Likely benign	0	1	17	34
MUT:ATP2B3:Lys1119Asn	PROT:Q16720	ATP2B3	K	1119	N	K1119N	Likely benign	0	1	17	6
MUT:ATP2B3:Lys1198Asn	PROT:Q16720	ATP2B3	K	1198	N	K1198N	Likely pathogenic	1	1	17	72
MUT:ATP2B3:Lys64Arg	PROT:Q16720	ATP2B3	K	64	R	K64R	Likely benign	0	1	17	116
MUT:ATP2B3:Pro1175Leu	PROT:Q16720	ATP2B3	P	1175	L	P1175L	Likely benign	0	1	17	49
MUT:ATP2B3:Thr1113Met	PROT:Q16720	ATP2B3	T	1113	M	T1113M	Likely pathogenic	1	1	17	0
MUT:ATP2B3:Thr1153Ala	PROT:Q16720	ATP2B3	T	1153	A	T1153A	Likely benign	0	1	17	27
MUT:ATP2B3:Thr924Ala	PROT:Q16720	ATP2B3	T	924	A	T924A	Likely pathogenic	1	1	17	121
MUT:ATP2B3:Val1050Ile	PROT:Q16720	ATP2B3	V	1050	I	V1050I	Likely benign	0	1	17	63
MUT:ATP2B3:Val415Met	PROT:Q16720	ATP2B3	V	415	M	V415M	Likely benign	0	1	17	52
MUT:ATP2B3:Val561Met	PROT:Q16720	ATP2B3	V	561	M	V561M	Likely benign	0	1	17	17
MUT:ATP2B3:Val761Leu	PROT:Q16720	ATP2B3	V	761	L	V761L	Likely benign	0	1	17	5
MUT:ATP2B3:Val934Met	PROT:Q16720	ATP2B3	V	934	M	V934M	Likely benign	0	1	17	131
MUT:ATP2C1:Ala304Thr	PROT:P98194	ATP2C1	A	304	T	A304T	Pathogenic	1	1	24	11
MUT:ATP2C1:Ala450Thr	PROT:P98194	ATP2C1	A	450	T	A450T	Benign	0	1	24	1
MUT:ATP2C1:Cys490Phe	PROT:P98194	ATP2C1	C	490	F	C490F	Pathogenic	1	1	24	2
MUT:ATP2C1:Ile21Asn	PROT:P98194	ATP2C1	I	21	N	I21N	Benign	0	1	24	1
MUT:ATP2C1:Leu541Phe	PROT:P98194	ATP2C1	L	541	F	L541F	Benign	0	2	24	22
MUT:ATP2C1:Leu584Pro	PROT:P98194	ATP2C1	L	584	P	L584P	Pathogenic	1	1	24	2
MUT:ATP2C1:Ser261Asn	PROT:P98194	ATP2C1	S	261	N	S261N	Benign	0	1	24	54
MUT:ATP2C1:Val231Ile	PROT:P98194	ATP2C1	V	231	I	V231I	Benign	0	1	24	84
MUT:ATP4B:Ala166Val	PROT:P51164	ATP4B	A	166	V	A166V	Likely benign	0	1	1	69
MUT:ATP5F1A:Ala32Ser	PROT:P25705	ATP5F1A	A	32	S	A32S	Benign	0	17	37	13
MUT:ATP5F1A:Ala528Thr	PROT:P25705	ATP5F1A	A	528	T	A528T	Likely benign	0	1	37	3
MUT:ATP5F1A:Ala9Thr	PROT:P25705	ATP5F1A	A	9	T	A9T	Benign/Likely benign	0	1	37	36
MUT:ATP5F1A:Arg207His	PROT:P25705	ATP5F1A	R	207	H	R207H	Pathogenic/Likely pathogenic	1	2	37	11
MUT:ATP5F1A:Gly418Arg	PROT:P25705	ATP5F1A	G	418	R	G418R	Likely pathogenic	1	2	37	33
MUT:ATP5F1A:Ile223Val	PROT:P25705	ATP5F1A	I	223	V	I223V	Benign	0	1	37	2
MUT:ATP5F1A:Leu109Phe	PROT:P25705	ATP5F1A	L	109	F	L109F	Likely pathogenic	1	1	37	3
MUT:ATP5F1A:Tyr321Cys	PROT:P25705	ATP5F1A	Y	321	C	Y321C	Pathogenic	1	1	37	5
MUT:ATP5F1E:Thr29Lys	PROT:P56381	ATP5F1E	T	29	K	T29K	Likely benign	0	1	2	8
MUT:ATP5F1E:Tyr12Cys	PROT:P56381	ATP5F1E	Y	12	C	Y12C	Pathogenic	1	1	2	9
MUT:ATP6AP1:Arg180His	PROT:Q15904	ATP6AP1	R	180	H	R180H	Benign/Likely benign	0	1	5	38
MUT:ATP6AP1:Asp55Glu	PROT:Q15904	ATP6AP1	D	55	E	D55E	Benign/Likely benign	0	1	5	48
MUT:ATP6AP1:Glu346Lys	PROT:Q15904	ATP6AP1	E	346	K	E346K	Pathogenic/Likely pathogenic	1	1	5	5
MUT:ATP6AP1:Leu144Pro	PROT:Q15904	ATP6AP1	L	144	P	L144P	Pathogenic	1	1	5	74
MUT:ATP6AP1:Leu177Pro	PROT:Q15904	ATP6AP1	L	177	P	L177P	Likely pathogenic	1	1	5	41
MUT:ATP6AP1:Leu74Pro	PROT:Q15904	ATP6AP1	L	74	P	L74P	Pathogenic	1	1	5	67
MUT:ATP6AP1:Met428Ile	PROT:Q15904	ATP6AP1	M	428	I	M428I	Pathogenic	1	1	5	32
MUT:ATP6AP1:Pro134Leu	PROT:Q15904	ATP6AP1	P	134	L	P134L	Likely pathogenic	1	1	5	84
MUT:ATP6AP1:Thr388Pro	PROT:Q15904	ATP6AP1	T	388	P	T388P	Benign/Likely benign	0	1	5	47
MUT:ATP6AP1:Tyr217Asn	PROT:Q15904	ATP6AP1	Y	217	N	Y217N	Pathogenic	1	1	5	1
MUT:ATP6AP1:Tyr224Cys	PROT:Q15904	ATP6AP1	Y	224	C	Y224C	Likely pathogenic	1	1	5	6
MUT:ATP6AP1:Tyr313Cys	PROT:Q15904	ATP6AP1	Y	313	C	Y313C	Pathogenic	1	1	5	28
MUT:ATP6AP1:Val385Leu	PROT:Q15904	ATP6AP1	V	385	L	V385L	Likely benign	0	1	5	44
MUT:ATP6V0A2:Ala397Pro	PROT:Q9Y487	ATP6V0A2	A	397	P	A397P	Likely pathogenic	1	1	7	23
MUT:ATP6V0A2:Ala813Val	PROT:Q9Y487	ATP6V0A2	A	813	V	A813V	Benign	0	2	7	439
MUT:ATP6V0A2:Arg339His	PROT:Q9Y487	ATP6V0A2	R	339	H	R339H	Benign	0	2	7	10
MUT:ATP6V0A2:Arg685Gln	PROT:Q9Y487	ATP6V0A2	R	685	Q	R685Q	Benign/Likely benign	0	3	7	311
MUT:ATP6V0A2:Asn850Ser	PROT:Q9Y487	ATP6V0A2	N	850	S	N850S	Benign	0	2	7	476
MUT:ATP6V0A2:Ile707Val	PROT:Q9Y487	ATP6V0A2	I	707	V	I707V	Likely benign	0	1	7	333
MUT:ATP6V0A2:Lys374Arg	PROT:Q9Y487	ATP6V0A2	K	374	R	K374R	Benign	0	2	7	0
MUT:ATP6V0A2:Thr464Ser	PROT:Q9Y487	ATP6V0A2	T	464	S	T464S	Likely benign	0	1	7	90
MUT:ATP6V0A2:Trp537Arg	PROT:Q9Y487	ATP6V0A2	W	537	R	W537R	Likely pathogenic	1	1	7	163
MUT:ATP6V0A2:Val420Leu	PROT:Q9Y487	ATP6V0A2	V	420	L	V420L	Benign/Likely benign	0	3	7	46
MUT:ATP6V0C:Ala22Thr	PROT:P27449	ATP6V0C	A	22	T	A22T	Pathogenic	1	1	3	15
MUT:ATP6V0C:Ala95Pro	PROT:P27449	ATP6V0C	A	95	P	A95P	Pathogenic	1	1	3	50
MUT:ATP6V0C:Gly63Ala	PROT:P27449	ATP6V0C	G	63	A	G63A	Pathogenic	1	1	3	18
MUT:ATP6V0C:Leu150Phe	PROT:P27449	ATP6V0C	L	150	F	L150F	Pathogenic	1	1	3	105
MUT:ATP6V0C:Phe137Leu	PROT:P27449	ATP6V0C	F	137	L	F137L	Pathogenic	1	1	3	92
MUT:ATP6V0C:Pro49Leu	PROT:P27449	ATP6V0C	P	49	L	P49L	Likely pathogenic	1	1	3	4
MUT:ATP6V1C2:Ile168Thr	PROT:Q8NEY4	ATP6V1C2	I	168	T	I168T	Likely pathogenic	1	1	3	2
MUT:ATP6V1E1:Arg212Trp	PROT:P36543	ATP6V1E1	R	212	W	R212W	Pathogenic/Likely pathogenic	1	2	11	21
MUT:ATP7B:Ala1003Pro	PROT:P35670	ATP7B	A	1003	P	A1003P	Likely pathogenic	1	1	26	25
MUT:ATP7B:Ala1003Val	PROT:P35670	ATP7B	A	1003	V	A1003V	Pathogenic/Likely pathogenic	1	2	26	25
MUT:ATP7B:Ala1018Glu	PROT:P35670	ATP7B	A	1018	E	A1018E	Likely pathogenic	1	1	26	10
MUT:ATP7B:Ala1063Gly	PROT:P35670	ATP7B	A	1063	G	A1063G	Likely pathogenic	1	1	26	3
MUT:ATP7B:Ala1074Thr	PROT:P35670	ATP7B	A	1074	T	A1074T	Pathogenic/Likely pathogenic	1	1	26	2
MUT:ATP7B:Ala1135Thr	PROT:P35670	ATP7B	A	1135	T	A1135T	Benign/Likely benign	0	1	26	8
MUT:ATP7B:Ala1183Thr	PROT:P35670	ATP7B	A	1183	T	A1183T	Likely pathogenic	1	1	26	20
MUT:ATP7B:Ala1195Val	PROT:P35670	ATP7B	A	1195	V	A1195V	Likely pathogenic	1	1	26	13
MUT:ATP7B:Ala1241Val	PROT:P35670	ATP7B	A	1241	V	A1241V	Likely pathogenic	1	1	26	17
MUT:ATP7B:Ala1274Thr	PROT:P35670	ATP7B	A	1274	T	A1274T	Likely pathogenic	1	1	26	14
MUT:ATP7B:Ala553Glu	PROT:P35670	ATP7B	A	553	E	A553E	Likely pathogenic	1	1	26	54
MUT:ATP7B:Ala604Asp	PROT:P35670	ATP7B	A	604	D	A604D	Likely pathogenic	1	1	26	3
MUT:ATP7B:Ala784Val	PROT:P35670	ATP7B	A	784	V	A784V	Pathogenic	1	1	26	1
MUT:ATP7B:Ala874Gly	PROT:P35670	ATP7B	A	874	G	A874G	Pathogenic	1	1	26	80
MUT:ATP7B:Ala990Pro	PROT:P35670	ATP7B	A	990	P	A990P	Likely pathogenic	1	1	26	38
MUT:ATP7B:Arg1041Pro	PROT:P35670	ATP7B	R	1041	P	R1041P	Likely pathogenic	1	1	26	9
MUT:ATP7B:Arg1041Trp	PROT:P35670	ATP7B	R	1041	W	R1041W	Pathogenic/Likely pathogenic	1	2	26	9
MUT:ATP7B:Arg1151Cys	PROT:P35670	ATP7B	R	1151	C	R1151C	Pathogenic/Likely pathogenic	1	2	26	6
MUT:ATP7B:Arg1440Leu	PROT:P35670	ATP7B	R	1440	L	R1440L	Likely benign	0	1	26	13
MUT:ATP7B:Arg148Trp	PROT:P35670	ATP7B	R	148	W	R148W	Likely benign	0	2	26	16
MUT:ATP7B:Arg508Lys	PROT:P35670	ATP7B	R	508	K	R508K	Likely benign	0	1	26	19
MUT:ATP7B:Arg616Gln	PROT:P35670	ATP7B	R	616	Q	R616Q	Pathogenic	1	1	26	9
MUT:ATP7B:Arg616Trp	PROT:P35670	ATP7B	R	616	W	R616W	Pathogenic/Likely pathogenic	1	1	26	9
MUT:ATP7B:Arg778Gln	PROT:P35670	ATP7B	R	778	Q	R778Q	Pathogenic	1	2	26	7
MUT:ATP7B:Arg778Gly	PROT:P35670	ATP7B	R	778	G	R778G	Pathogenic	1	1	26	7
MUT:ATP7B:Arg778Trp	PROT:P35670	ATP7B	R	778	W	R778W	Pathogenic	1	1	26	7
MUT:ATP7B:Arg816Ser	PROT:P35670	ATP7B	R	816	S	R816S	Pathogenic	1	1	26	22
MUT:ATP7B:Arg919Leu	PROT:P35670	ATP7B	R	919	L	R919L	Likely pathogenic	1	1	26	109
MUT:ATP7B:Arg919Trp	PROT:P35670	ATP7B	R	919	W	R919W	Pathogenic/Likely pathogenic	1	2	26	109
MUT:ATP7B:Arg952Lys	PROT:P35670	ATP7B	R	952	K	R952K	Benign	0	1	26	76
MUT:ATP7B:Arg969Gln	PROT:P35670	ATP7B	R	969	Q	R969Q	Pathogenic/Likely pathogenic	1	2	26	59
MUT:ATP7B:Arg969Pro	PROT:P35670	ATP7B	R	969	P	R969P	Likely pathogenic	1	1	26	59
MUT:ATP7B:Asn1270Ile	PROT:P35670	ATP7B	N	1270	I	N1270I	Likely pathogenic	1	1	26	10
MUT:ATP7B:Asn1324Ser	PROT:P35670	ATP7B	N	1324	S	N1324S	Pathogenic/Likely pathogenic	1	1	26	64
MUT:ATP7B:Asn41Ser	PROT:P35670	ATP7B	N	41	S	N41S	Pathogenic/Likely pathogenic	1	2	26	40
MUT:ATP7B:Asn728Ser	PROT:P35670	ATP7B	N	728	S	N728S	Pathogenic/Likely pathogenic	1	1	26	57
MUT:ATP7B:Asn878Lys	PROT:P35670	ATP7B	N	878	K	N878K	Likely pathogenic	1	1	26	84
MUT:ATP7B:Asp1027His	PROT:P35670	ATP7B	D	1027	H	D1027H	Pathogenic	1	1	26	1
MUT:ATP7B:Asp1138His	PROT:P35670	ATP7B	D	1138	H	D1138H	Likely pathogenic	1	1	26	5
MUT:ATP7B:Asp1222Asn	PROT:P35670	ATP7B	D	1222	N	D1222N	Pathogenic/Likely pathogenic	1	1	26	2
MUT:ATP7B:Asp1267Ala	PROT:P35670	ATP7B	D	1267	A	D1267A	Pathogenic/Likely pathogenic	1	1	26	7
MUT:ATP7B:Asp1267Asn	PROT:P35670	ATP7B	D	1267	N	D1267N	Likely pathogenic	1	1	26	7
MUT:ATP7B:Asp1267Val	PROT:P35670	ATP7B	D	1267	V	D1267V	Likely pathogenic	1	1	26	7
MUT:ATP7B:Asp1279Gly	PROT:P35670	ATP7B	D	1279	G	D1279G	Pathogenic/Likely pathogenic	1	1	26	19
MUT:ATP7B:Asp1279Tyr	PROT:P35670	ATP7B	D	1279	Y	D1279Y	Likely pathogenic	1	1	26	19
MUT:ATP7B:Asp642His	PROT:P35670	ATP7B	D	642	H	D642H	Pathogenic/Likely pathogenic	1	1	26	35
MUT:ATP7B:Asp642Tyr	PROT:P35670	ATP7B	D	642	Y	D642Y	Pathogenic/Likely pathogenic	1	1	26	35
MUT:ATP7B:Asp765Asn	PROT:P35670	ATP7B	D	765	N	D765N	Pathogenic/Likely pathogenic	1	1	26	20
MUT:ATP7B:Asp765Glu	PROT:P35670	ATP7B	D	765	E	D765E	Likely pathogenic	1	1	26	20
MUT:ATP7B:Asp765Gly	PROT:P35670	ATP7B	D	765	G	D765G	Pathogenic/Likely pathogenic	1	1	26	20
MUT:ATP7B:Asp765His	PROT:P35670	ATP7B	D	765	H	D765H	Pathogenic/Likely pathogenic	1	1	26	20
MUT:ATP7B:Asp829Asn	PROT:P35670	ATP7B	D	829	N	D829N	Likely pathogenic	1	1	26	35
MUT:ATP7B:Asp829His	PROT:P35670	ATP7B	D	829	H	D829H	Pathogenic/Likely pathogenic	1	1	26	35
MUT:ATP7B:Cys1079Phe	PROT:P35670	ATP7B	C	1079	F	C1079F	Pathogenic/Likely pathogenic	1	1	26	1
MUT:ATP7B:Cys1104Phe	PROT:P35670	ATP7B	C	1104	F	C1104F	Likely pathogenic	1	1	26	17
MUT:ATP7B:Cys703Phe	PROT:P35670	ATP7B	C	703	F	C703F	Likely pathogenic	1	1	26	82
MUT:ATP7B:Cys703Tyr	PROT:P35670	ATP7B	C	703	Y	C703Y	Pathogenic/Likely pathogenic	1	1	26	82
MUT:ATP7B:Cys980Tyr	PROT:P35670	ATP7B	C	980	Y	C980Y	Pathogenic/Likely pathogenic	1	2	26	48
MUT:ATP7B:Gln1095Arg	PROT:P35670	ATP7B	Q	1095	R	Q1095R	Likely pathogenic	1	1	26	17
MUT:ATP7B:Gln1095Pro	PROT:P35670	ATP7B	Q	1095	P	Q1095P	Pathogenic/Likely pathogenic	1	1	26	17
MUT:ATP7B:Gln480Pro	PROT:P35670	ATP7B	Q	480	P	Q480P	Likely benign	0	1	26	1
MUT:ATP7B:Gln707Arg	PROT:P35670	ATP7B	Q	707	R	Q707R	Likely pathogenic	1	1	26	78
MUT:ATP7B:Glu1064Ala	PROT:P35670	ATP7B	E	1064	A	E1064A	Pathogenic/Likely pathogenic	1	1	26	2
MUT:ATP7B:Glu1064Lys	PROT:P35670	ATP7B	E	1064	K	E1064K	Pathogenic/Likely pathogenic	1	1	26	2
MUT:ATP7B:Glu1173Lys	PROT:P35670	ATP7B	E	1173	K	E1173K	Pathogenic/Likely pathogenic	1	1	26	10
MUT:ATP7B:Glu1242Lys	PROT:P35670	ATP7B	E	1242	K	E1242K	Likely pathogenic	1	1	26	16
MUT:ATP7B:Glu385Lys	PROT:P35670	ATP7B	E	385	K	E385K	Likely benign	0	1	26	96
MUT:ATP7B:Glu854Gly	PROT:P35670	ATP7B	E	854	G	E854G	Likely pathogenic	1	1	26	60
MUT:ATP7B:Gly1000Arg	PROT:P35670	ATP7B	G	1000	R	G1000R	Pathogenic/Likely pathogenic	1	1	26	28
MUT:ATP7B:Gly1030Val	PROT:P35670	ATP7B	G	1030	V	G1030V	Likely pathogenic	1	1	26	2
MUT:ATP7B:Gly1035Asp	PROT:P35670	ATP7B	G	1035	D	G1035D	Likely pathogenic	1	1	26	7
MUT:ATP7B:Gly1035Val	PROT:P35670	ATP7B	G	1035	V	G1035V	Pathogenic/Likely pathogenic	1	1	26	7
MUT:ATP7B:Gly1089Glu	PROT:P35670	ATP7B	G	1089	E	G1089E	Likely pathogenic	1	1	26	11
MUT:ATP7B:Gly1099Ser	PROT:P35670	ATP7B	G	1099	S	G1099S	Pathogenic/Likely pathogenic	1	1	26	21
MUT:ATP7B:Gly1101Arg	PROT:P35670	ATP7B	G	1101	R	G1101R	Pathogenic/Likely pathogenic	1	1	26	20
MUT:ATP7B:Gly1149Ala	PROT:P35670	ATP7B	G	1149	A	G1149A	Pathogenic/Likely pathogenic	1	1	26	4
MUT:ATP7B:Gly1149Arg	PROT:P35670	ATP7B	G	1149	R	G1149R	Likely pathogenic	1	1	26	4
MUT:ATP7B:Gly1176Arg	PROT:P35670	ATP7B	G	1176	R	G1176R	Pathogenic	1	1	26	13
MUT:ATP7B:Gly1186Arg	PROT:P35670	ATP7B	G	1186	R	G1186R	Likely pathogenic	1	1	26	22
MUT:ATP7B:Gly1186Ser	PROT:P35670	ATP7B	G	1186	S	G1186S	Pathogenic/Likely pathogenic	1	1	26	22
MUT:ATP7B:Gly1221Glu	PROT:P35670	ATP7B	G	1221	E	G1221E	Pathogenic/Likely pathogenic	1	1	26	1
MUT:ATP7B:Gly1235Asp	PROT:P35670	ATP7B	G	1235	D	G1235D	Likely pathogenic	1	1	26	15
MUT:ATP7B:Gly1266Arg	PROT:P35670	ATP7B	G	1266	R	G1266R	Pathogenic/Likely pathogenic	1	1	26	6
MUT:ATP7B:Gly1266Trp	PROT:P35670	ATP7B	G	1266	W	G1266W	Likely pathogenic	1	1	26	6
MUT:ATP7B:Gly1287Cys	PROT:P35670	ATP7B	G	1287	C	G1287C	Likely pathogenic	1	1	26	27
MUT:ATP7B:Gly1341Asp	PROT:P35670	ATP7B	G	1341	D	G1341D	Pathogenic/Likely pathogenic	1	1	26	57
MUT:ATP7B:Gly1341Ser	PROT:P35670	ATP7B	G	1341	S	G1341S	Pathogenic/Likely pathogenic	1	1	26	57
MUT:ATP7B:Gly1341Val	PROT:P35670	ATP7B	G	1341	V	G1341V	Pathogenic	1	1	26	57
MUT:ATP7B:Gly1355Asp	PROT:P35670	ATP7B	G	1355	D	G1355D	Likely pathogenic	1	1	26	43
MUT:ATP7B:Gly335Glu	PROT:P35670	ATP7B	G	335	E	G335E	Pathogenic	1	1	26	146
MUT:ATP7B:Gly515Ser	PROT:P35670	ATP7B	G	515	S	G515S	Likely pathogenic	1	1	26	26
MUT:ATP7B:Gly591Asp	PROT:P35670	ATP7B	G	591	D	G591D	Pathogenic/Likely pathogenic	1	1	26	16
MUT:ATP7B:Gly614Asp	PROT:P35670	ATP7B	G	614	D	G614D	Likely pathogenic	1	1	26	7
MUT:ATP7B:Gly626Ala	PROT:P35670	ATP7B	G	626	A	G626A	Pathogenic/Likely pathogenic	1	2	26	19
MUT:ATP7B:Gly691Arg	PROT:P35670	ATP7B	G	691	R	G691R	Pathogenic/Likely pathogenic	1	1	26	84
MUT:ATP7B:Gly691Val	PROT:P35670	ATP7B	G	691	V	G691V	Pathogenic/Likely pathogenic	1	1	26	84
MUT:ATP7B:Gly710Ala	PROT:P35670	ATP7B	G	710	A	G710A	Pathogenic/Likely pathogenic	1	1	26	75
MUT:ATP7B:Gly710Ser	PROT:P35670	ATP7B	G	710	S	G710S	Pathogenic/Likely pathogenic	1	1	26	75
MUT:ATP7B:Gly711Arg	PROT:P35670	ATP7B	G	711	R	G711R	Pathogenic/Likely pathogenic	1	1	26	74
MUT:ATP7B:Gly711Trp	PROT:P35670	ATP7B	G	711	W	G711W	Pathogenic/Likely pathogenic	1	1	26	74
MUT:ATP7B:Gly836Arg	PROT:P35670	ATP7B	G	836	R	G836R	Likely pathogenic	1	1	26	42
MUT:ATP7B:Gly843Arg	PROT:P35670	ATP7B	G	843	R	G843R	Likely pathogenic	1	1	26	49
MUT:ATP7B:Gly85Ser	PROT:P35670	ATP7B	G	85	S	G85S	Likely pathogenic	1	1	26	4
MUT:ATP7B:Gly85Val	PROT:P35670	ATP7B	G	85	V	G85V	Pathogenic/Likely pathogenic	1	1	26	4
MUT:ATP7B:Gly869Arg	PROT:P35670	ATP7B	G	869	R	G869R	Pathogenic/Likely pathogenic	1	2	26	75
MUT:ATP7B:Gly875Arg	PROT:P35670	ATP7B	G	875	R	G875R	Benign	0	1	26	81
MUT:ATP7B:Gly943Arg	PROT:P35670	ATP7B	G	943	R	G943R	Likely pathogenic	1	1	26	85
MUT:ATP7B:Gly943Cys	PROT:P35670	ATP7B	G	943	C	G943C	Likely pathogenic	1	1	26	85
MUT:ATP7B:Gly943Ser	PROT:P35670	ATP7B	G	943	S	G943S	Pathogenic	1	1	26	85
MUT:ATP7B:Gly988Arg	PROT:P35670	ATP7B	G	988	R	G988R	Pathogenic/Likely pathogenic	1	1	26	40
MUT:ATP7B:Gly988Glu	PROT:P35670	ATP7B	G	988	E	G988E	Likely pathogenic	1	1	26	40
MUT:ATP7B:Gly988Val	PROT:P35670	ATP7B	G	988	V	G988V	Likely pathogenic	1	1	26	40
MUT:ATP7B:Gly998Asp	PROT:P35670	ATP7B	G	998	D	G998D	Likely pathogenic	1	1	26	30
MUT:ATP7B:His1034Arg	PROT:P35670	ATP7B	H	1034	R	H1034R	Benign/Likely benign	0	1	26	6
MUT:ATP7B:His1069Arg	PROT:P35670	ATP7B	H	1069	R	H1069R	Pathogenic	1	1	26	3
MUT:ATP7B:His1069Gln	PROT:P35670	ATP7B	H	1069	Q	H1069Q	Pathogenic	1	1	26	3
MUT:ATP7B:His1069Leu	PROT:P35670	ATP7B	H	1069	L	H1069L	Likely pathogenic	1	1	26	3
MUT:ATP7B:His1207Arg	PROT:P35670	ATP7B	H	1207	R	H1207R	Benign/Likely benign	0	1	26	1
MUT:ATP7B:His628Arg	PROT:P35670	ATP7B	H	628	R	H628R	Likely benign	0	1	26	21
MUT:ATP7B:Ile1021Lys	PROT:P35670	ATP7B	I	1021	K	I1021K	Pathogenic/Likely pathogenic	1	1	26	7
MUT:ATP7B:Ile1102Phe	PROT:P35670	ATP7B	I	1102	F	I1102F	Likely pathogenic	1	1	26	19
MUT:ATP7B:Ile1230Leu	PROT:P35670	ATP7B	I	1230	L	I1230L	Likely pathogenic	1	1	26	10
MUT:ATP7B:Ile1230Thr	PROT:P35670	ATP7B	I	1230	T	I1230T	Likely pathogenic	1	1	26	10
MUT:ATP7B:Ile1321Lys	PROT:P35670	ATP7B	I	1321	K	I1321K	Likely pathogenic	1	1	26	61
MUT:ATP7B:Ile857Thr	PROT:P35670	ATP7B	I	857	T	I857T	Pathogenic/Likely pathogenic	1	1	26	63
MUT:ATP7B:Leu1043Pro	PROT:P35670	ATP7B	L	1043	P	L1043P	Pathogenic/Likely pathogenic	1	1	26	7
MUT:ATP7B:Leu1083Phe	PROT:P35670	ATP7B	L	1083	F	L1083F	Pathogenic/Likely pathogenic	1	1	26	5
MUT:ATP7B:Leu1188Pro	PROT:P35670	ATP7B	L	1188	P	L1188P	Likely pathogenic	1	1	26	20
MUT:ATP7B:Leu1275Ser	PROT:P35670	ATP7B	L	1275	S	L1275S	Likely pathogenic	1	2	26	15
MUT:ATP7B:Leu1299Phe	PROT:P35670	ATP7B	L	1299	F	L1299F	Pathogenic/Likely pathogenic	1	2	26	39
MUT:ATP7B:Leu1304Phe	PROT:P35670	ATP7B	L	1304	F	L1304F	Likely pathogenic	1	1	26	44
MUT:ATP7B:Leu1305Pro	PROT:P35670	ATP7B	L	1305	P	L1305P	Pathogenic/Likely pathogenic	1	1	26	45
MUT:ATP7B:Leu1313Pro	PROT:P35670	ATP7B	L	1313	P	L1313P	Likely pathogenic	1	1	26	53
MUT:ATP7B:Leu1368Pro	PROT:P35670	ATP7B	L	1368	P	L1368P	Likely pathogenic	1	1	26	30
MUT:ATP7B:Leu1373Pro	PROT:P35670	ATP7B	L	1373	P	L1373P	Likely pathogenic	1	1	26	25
MUT:ATP7B:Leu492Ser	PROT:P35670	ATP7B	L	492	S	L492S	Pathogenic/Likely pathogenic	1	1	26	3
MUT:ATP7B:Leu692Pro	PROT:P35670	ATP7B	L	692	P	L692P	Pathogenic	1	1	26	85
MUT:ATP7B:Leu708Pro	PROT:P35670	ATP7B	L	708	P	L708P	Pathogenic	1	1	26	77
MUT:ATP7B:Leu735Arg	PROT:P35670	ATP7B	L	735	R	L735R	Pathogenic	1	1	26	50
MUT:ATP7B:Leu795Phe	PROT:P35670	ATP7B	L	795	F	L795F	Pathogenic/Likely pathogenic	1	2	26	1
MUT:ATP7B:Lys1010Arg	PROT:P35670	ATP7B	K	1010	R	K1010R	Pathogenic/Likely pathogenic	1	1	26	18
MUT:ATP7B:Lys1010Glu	PROT:P35670	ATP7B	K	1010	E	K1010E	Pathogenic	1	1	26	18
MUT:ATP7B:Lys1010Thr	PROT:P35670	ATP7B	K	1010	T	K1010T	Pathogenic/Likely pathogenic	1	1	26	18
MUT:ATP7B:Lys832Arg	PROT:P35670	ATP7B	K	832	R	K832R	Benign	0	1	26	38
MUT:ATP7B:Met1025Arg	PROT:P35670	ATP7B	M	1025	R	M1025R	Likely pathogenic	1	1	26	3
MUT:ATP7B:Met1025Lys	PROT:P35670	ATP7B	M	1025	K	M1025K	Likely pathogenic	1	1	26	3
MUT:ATP7B:Met1169Thr	PROT:P35670	ATP7B	M	1169	T	M1169T	Pathogenic	1	1	26	6
MUT:ATP7B:Met1359Val	PROT:P35670	ATP7B	M	1359	V	M1359V	Pathogenic/Likely pathogenic	1	1	26	39
MUT:ATP7B:Met645Arg	PROT:P35670	ATP7B	M	645	R	M645R	Pathogenic/Likely pathogenic	1	2	26	38
MUT:ATP7B:Met769Val	PROT:P35670	ATP7B	M	769	V	M769V	Pathogenic	1	1	26	16
MUT:ATP7B:Met996Val	PROT:P35670	ATP7B	M	996	V	M996V	Likely pathogenic	1	1	26	32
MUT:ATP7B:Phe1094Leu	PROT:P35670	ATP7B	F	1094	L	F1094L	Likely pathogenic	1	1	26	16
MUT:ATP7B:Pro1052Leu	PROT:P35670	ATP7B	P	1052	L	P1052L	Pathogenic/Likely pathogenic	1	1	26	2
MUT:ATP7B:Pro1273Leu	PROT:P35670	ATP7B	P	1273	L	P1273L	Pathogenic/Likely pathogenic	1	1	26	13
MUT:ATP7B:Pro1337Arg	PROT:P35670	ATP7B	P	1337	R	P1337R	Pathogenic	1	1	26	61
MUT:ATP7B:Pro410Ser	PROT:P35670	ATP7B	P	410	S	P410S	Likely benign	0	1	26	71
MUT:ATP7B:Pro760His	PROT:P35670	ATP7B	P	760	H	P760H	Likely pathogenic	1	1	26	25
MUT:ATP7B:Pro767Arg	PROT:P35670	ATP7B	P	767	R	P767R	Likely pathogenic	1	1	26	18
MUT:ATP7B:Pro767Leu	PROT:P35670	ATP7B	P	767	L	P767L	Pathogenic/Likely pathogenic	1	1	26	18
MUT:ATP7B:Pro767Ser	PROT:P35670	ATP7B	P	767	S	P767S	Likely pathogenic	1	1	26	18
MUT:ATP7B:Pro768Arg	PROT:P35670	ATP7B	P	768	R	P768R	Likely pathogenic	1	1	26	17
MUT:ATP7B:Pro768Leu	PROT:P35670	ATP7B	P	768	L	P768L	Pathogenic/Likely pathogenic	1	1	26	17
MUT:ATP7B:Pro768Ser	PROT:P35670	ATP7B	P	768	S	P768S	Likely pathogenic	1	1	26	17
MUT:ATP7B:Pro840Leu	PROT:P35670	ATP7B	P	840	L	P840L	Pathogenic	1	1	26	46
MUT:ATP7B:Ser1067Arg	PROT:P35670	ATP7B	S	1067	R	S1067R	Likely pathogenic	1	1	26	1
MUT:ATP7B:Ser1272Tyr	PROT:P35670	ATP7B	S	1272	Y	S1272Y	Likely pathogenic	1	1	26	12
MUT:ATP7B:Ser1362Ala	PROT:P35670	ATP7B	S	1362	A	S1362A	Likely pathogenic	1	1	26	36
MUT:ATP7B:Ser1363Phe	PROT:P35670	ATP7B	S	1363	F	S1363F	Pathogenic	1	1	26	35
MUT:ATP7B:Ser1370Phe	PROT:P35670	ATP7B	S	1370	F	S1370F	Likely pathogenic	1	1	26	28
MUT:ATP7B:Ser406Ala	PROT:P35670	ATP7B	S	406	A	S406A	Benign	0	1	26	75
MUT:ATP7B:Ser744Pro	PROT:P35670	ATP7B	S	744	P	S744P	Pathogenic/Likely pathogenic	1	1	26	41
MUT:ATP7B:Ser921Arg	PROT:P35670	ATP7B	S	921	R	S921R	Pathogenic/Likely pathogenic	1	1	26	107
MUT:ATP7B:Ser921Asn	PROT:P35670	ATP7B	S	921	N	S921N	Pathogenic/Likely pathogenic	1	1	26	107
MUT:ATP7B:Ser921Ile	PROT:P35670	ATP7B	S	921	I	S921I	Likely pathogenic	1	1	26	107
MUT:ATP7B:Ser986Phe	PROT:P35670	ATP7B	S	986	F	S986F	Likely pathogenic	1	1	26	42
MUT:ATP7B:Thr1029Ile	PROT:P35670	ATP7B	T	1029	I	T1029I	Pathogenic	1	1	26	1
MUT:ATP7B:Thr1031Ala	PROT:P35670	ATP7B	T	1031	A	T1031A	Likely pathogenic	1	1	26	3
MUT:ATP7B:Thr1076Ile	PROT:P35670	ATP7B	T	1076	I	T1076I	Likely pathogenic	1	1	26	0
MUT:ATP7B:Thr1092Pro	PROT:P35670	ATP7B	T	1092	P	T1092P	Likely pathogenic	1	1	26	14
MUT:ATP7B:Thr1178Pro	PROT:P35670	ATP7B	T	1178	P	T1178P	Likely pathogenic	1	1	26	15
MUT:ATP7B:Thr1220Met	PROT:P35670	ATP7B	T	1220	M	T1220M	Pathogenic/Likely pathogenic	1	1	26	0
MUT:ATP7B:Thr1232Pro	PROT:P35670	ATP7B	T	1232	P	T1232P	Pathogenic/Likely pathogenic	1	1	26	12
MUT:ATP7B:Thr1288Ala	PROT:P35670	ATP7B	T	1288	A	T1288A	Likely pathogenic	1	1	26	28
MUT:ATP7B:Thr1288Arg	PROT:P35670	ATP7B	T	1288	R	T1288R	Pathogenic/Likely pathogenic	1	1	26	28
MUT:ATP7B:Thr1288Pro	PROT:P35670	ATP7B	T	1288	P	T1288P	Pathogenic	1	1	26	28
MUT:ATP7B:Thr498Ile	PROT:P35670	ATP7B	T	498	I	T498I	Likely pathogenic	1	1	26	9
MUT:ATP7B:Thr766Arg	PROT:P35670	ATP7B	T	766	R	T766R	Pathogenic/Likely pathogenic	1	1	26	19
MUT:ATP7B:Thr766Met	PROT:P35670	ATP7B	T	766	M	T766M	Pathogenic/Likely pathogenic	1	1	26	19
MUT:ATP7B:Thr766Pro	PROT:P35670	ATP7B	T	766	P	T766P	Likely pathogenic	1	1	26	19
MUT:ATP7B:Thr788Ile	PROT:P35670	ATP7B	T	788	I	T788I	Pathogenic/Likely pathogenic	1	1	26	3
MUT:ATP7B:Thr850Ile	PROT:P35670	ATP7B	T	850	I	T850I	Pathogenic/Likely pathogenic	1	1	26	56
MUT:ATP7B:Thr858Ala	PROT:P35670	ATP7B	T	858	A	T858A	Likely pathogenic	1	1	26	64
MUT:ATP7B:Thr888Ile	PROT:P35670	ATP7B	T	888	I	T888I	Likely pathogenic	1	1	26	94
MUT:ATP7B:Thr894Ala	PROT:P35670	ATP7B	T	894	A	T894A	Likely pathogenic	1	1	26	100
MUT:ATP7B:Thr977Met	PROT:P35670	ATP7B	T	977	M	T977M	Pathogenic	1	3	26	51
MUT:ATP7B:Thr991Ala	PROT:P35670	ATP7B	T	991	A	T991A	Likely pathogenic	1	1	26	37
MUT:ATP7B:Trp779Arg	PROT:P35670	ATP7B	W	779	R	W779R	Likely pathogenic	1	1	26	6
MUT:ATP7B:Trp779Cys	PROT:P35670	ATP7B	W	779	C	W779C	Likely pathogenic	1	1	26	6
MUT:ATP7B:Trp779Gly	PROT:P35670	ATP7B	W	779	G	W779G	Pathogenic/Likely pathogenic	1	1	26	6
MUT:ATP7B:Trp939Cys	PROT:P35670	ATP7B	W	939	C	W939C	Pathogenic/Likely pathogenic	1	1	26	89
MUT:ATP7B:Val1106Leu	PROT:P35670	ATP7B	V	1106	L	V1106L	Likely pathogenic	1	1	26	15
MUT:ATP7B:Val1140Ala	PROT:P35670	ATP7B	V	1140	A	V1140A	Benign	0	1	26	3
MUT:ATP7B:Val1146Ala	PROT:P35670	ATP7B	V	1146	A	V1146A	Likely pathogenic	1	1	26	1
MUT:ATP7B:Val1146Met	PROT:P35670	ATP7B	V	1146	M	V1146M	Pathogenic/Likely pathogenic	1	1	26	1
MUT:ATP7B:Val1262Phe	PROT:P35670	ATP7B	V	1262	F	V1262F	Pathogenic/Likely pathogenic	1	1	26	2
MUT:ATP7B:Val214Ala	PROT:P35670	ATP7B	V	214	A	V214A	Likely benign	0	1	26	82
MUT:ATP7B:Val456Leu	PROT:P35670	ATP7B	V	456	L	V456L	Benign	0	2	26	25
MUT:ATP7B:Val734Phe	PROT:P35670	ATP7B	V	734	F	V734F	Likely pathogenic	1	1	26	51
MUT:ATP7B:Val890Leu	PROT:P35670	ATP7B	V	890	L	V890L	Likely pathogenic	1	1	26	96
MUT:ATP7B:Val995Ala	PROT:P35670	ATP7B	V	995	A	V995A	Likely pathogenic	1	1	26	33
MUT:ATP8B1:Ala1152Thr	PROT:O43520	ATP8B1	A	1152	T	A1152T	Benign	0	3	6	55
MUT:ATP8B1:Arg296Cys	PROT:O43520	ATP8B1	R	296	C	R296C	Pathogenic/Likely pathogenic	1	3	6	362
MUT:ATP8B1:Arg296Ser	PROT:O43520	ATP8B1	R	296	S	R296S	Likely pathogenic	1	1	6	362
MUT:ATP8B1:Arg600Gln	PROT:O43520	ATP8B1	R	600	Q	R600Q	Pathogenic/Likely pathogenic	1	4	6	58
MUT:ATP8B1:Arg930Gln	PROT:O43520	ATP8B1	R	930	Q	R930Q	Benign	0	2	6	266
MUT:ATP8B1:Arg934Gly	PROT:O43520	ATP8B1	R	934	G	R934G	Likely pathogenic	1	1	6	270
MUT:ATP8B1:Arg952Gln	PROT:O43520	ATP8B1	R	952	Q	R952Q	Benign/Likely benign	0	2	6	255
MUT:ATP8B1:Asn45Thr	PROT:O43520	ATP8B1	N	45	T	N45T	Benign/Likely benign	0	3	6	613
MUT:ATP8B1:Asp247His	PROT:O43520	ATP8B1	D	247	H	D247H	Likely benign	0	1	6	411
MUT:ATP8B1:Asp454Val	PROT:O43520	ATP8B1	D	454	V	D454V	Likely pathogenic	1	1	6	204
MUT:ATP8B1:Asp554Asn	PROT:O43520	ATP8B1	D	554	N	D554N	Pathogenic	1	3	6	104
MUT:ATP8B1:Cys306Arg	PROT:O43520	ATP8B1	C	306	R	C306R	Likely pathogenic	1	1	6	352
MUT:ATP8B1:Glu981Lys	PROT:O43520	ATP8B1	E	981	K	E981K	Pathogenic/Likely pathogenic	1	2	6	226
MUT:ATP8B1:Gly233Arg	PROT:O43520	ATP8B1	G	233	R	G233R	Likely pathogenic	1	2	6	425
MUT:ATP8B1:Gly308Ser	PROT:O43520	ATP8B1	G	308	S	G308S	Pathogenic/Likely pathogenic	1	3	6	350
MUT:ATP8B1:Gly308Val	PROT:O43520	ATP8B1	G	308	V	G308V	Pathogenic	1	4	6	350
MUT:ATP8B1:Gly446Arg	PROT:O43520	ATP8B1	G	446	R	G446R	Pathogenic/Likely pathogenic	1	3	6	212
MUT:ATP8B1:His78Gln	PROT:O43520	ATP8B1	H	78	Q	H78Q	Benign	0	2	6	580
MUT:ATP8B1:Ile344Phe	PROT:O43520	ATP8B1	I	344	F	I344F	Likely pathogenic	1	2	6	314
MUT:ATP8B1:Ile577Val	PROT:O43520	ATP8B1	I	577	V	I577V	Benign	0	2	6	81
MUT:ATP8B1:Ile661Thr	PROT:O43520	ATP8B1	I	661	T	I661T	Pathogenic/Likely pathogenic	1	5	6	3
MUT:ATP8B1:Ile694Asn	PROT:O43520	ATP8B1	I	694	N	I694N	Pathogenic/Likely pathogenic	1	2	6	30
MUT:ATP8B1:Leu127Pro	PROT:O43520	ATP8B1	L	127	P	L127P	Likely pathogenic	1	1	6	531
MUT:ATP8B1:Leu213Ile	PROT:O43520	ATP8B1	L	213	I	L213I	Likely pathogenic	1	1	6	445
MUT:ATP8B1:Lys814Asn	PROT:O43520	ATP8B1	K	814	N	K814N	Benign/Likely benign	0	2	6	150
MUT:ATP8B1:Met674Thr	PROT:O43520	ATP8B1	M	674	T	M674T	Benign/Likely benign	0	2	6	10
MUT:ATP8B1:Met900Val	PROT:O43520	ATP8B1	M	900	V	M900V	Likely pathogenic	1	1	6	236
MUT:ATP8B1:Phe1132Val	PROT:O43520	ATP8B1	F	1132	V	F1132V	Likely pathogenic	1	1	6	75
MUT:ATP8B1:Pro870Arg	PROT:O43520	ATP8B1	P	870	R	P870R	Likely pathogenic	1	1	6	206
MUT:ATP8B1:Ser580Asn	PROT:O43520	ATP8B1	S	580	N	S580N	Benign/Likely benign	0	2	6	78
MUT:ATP8B1:Thr456Met	PROT:O43520	ATP8B1	T	456	M	T456M	Pathogenic/Likely pathogenic	1	2	6	202
MUT:ATPAF2:Glu241Gly	PROT:Q8N5M1	ATPAF2	E	241	G	E241G	Benign/Likely benign	0	1	3	2
MUT:ATPAF2:Gly12Glu	PROT:Q8N5M1	ATPAF2	G	12	E	G12E	Benign	0	1	3	231
MUT:ATPAF2:Val171Met	PROT:Q8N5M1	ATPAF2	V	171	M	V171M	Benign/Likely benign	0	2	3	72
MUT:ATR:Ala804Thr	PROT:Q13535	ATR	A	804	T	A804T	Likely benign	0	1	64	13
MUT:ATR:Arg109Trp	PROT:Q13535	ATR	R	109	W	R109W	Benign	0	3	64	77
MUT:ATR:Arg1444Lys	PROT:Q13535	ATR	R	1444	K	R1444K	Likely benign	0	1	64	23
MUT:ATR:Arg2425Gln	PROT:Q13535	ATR	R	2425	Q	R2425Q	Benign	0	3	64	5
MUT:ATR:Arg443Thr	PROT:Q13535	ATR	R	443	T	R443T	Benign/Likely benign	0	2	64	1
MUT:ATR:Asn1612Ser	PROT:Q13535	ATR	N	1612	S	N1612S	Benign	0	10	64	1
MUT:ATR:Asn1917Asp	PROT:Q13535	ATR	N	1917	D	N1917D	Likely benign	0	1	64	5
MUT:ATR:Asn1917Ser	PROT:Q13535	ATR	N	1917	S	N1917S	Likely benign	0	1	64	5
MUT:ATR:Asn579Lys	PROT:Q13535	ATR	N	579	K	N579K	Likely benign	0	1	64	30
MUT:ATR:Asn744Ser	PROT:Q13535	ATR	N	744	S	N744S	Likely benign	0	1	64	2
MUT:ATR:Asp1879Tyr	PROT:Q13535	ATR	D	1879	Y	D1879Y	Pathogenic	1	1	64	3
MUT:ATR:Asp958Glu	PROT:Q13535	ATR	D	958	E	D958E	Likely benign	0	1	64	6
MUT:ATR:Cys1207Tyr	PROT:Q13535	ATR	C	1207	Y	C1207Y	Likely benign	0	1	64	22
MUT:ATR:His90Tyr	PROT:Q13535	ATR	H	90	Y	H90Y	Benign/Likely benign	0	2	64	58
MUT:ATR:Ile1114Thr	PROT:Q13535	ATR	I	1114	T	I1114T	Likely benign	0	1	64	26
MUT:ATR:Ile1145Val	PROT:Q13535	ATR	I	1145	V	I1145V	Likely benign	0	1	64	5
MUT:ATR:Leu196Phe	PROT:Q13535	ATR	L	196	F	L196F	Likely benign	0	1	64	95
MUT:ATR:Leu557Pro	PROT:Q13535	ATR	L	557	P	L557P	Likely benign	0	1	64	8
MUT:ATR:Leu770Gln	PROT:Q13535	ATR	L	770	Q	L770Q	Likely benign	0	1	64	6
MUT:ATR:Lys1665Asn	PROT:Q13535	ATR	K	1665	N	K1665N	Likely pathogenic	1	1	64	1
MUT:ATR:Lys297Asn	PROT:Q13535	ATR	K	297	N	K297N	Benign/Likely benign	0	3	64	0
MUT:ATR:Met1159Ile	PROT:Q13535	ATR	M	1159	I	M1159I	Pathogenic	1	1	64	5
MUT:ATR:Met1617Val	PROT:Q13535	ATR	M	1617	V	M1617V	Likely benign	0	1	64	4
MUT:ATR:Met197Ile	PROT:Q13535	ATR	M	197	I	M197I	Likely benign	0	1	64	94
MUT:ATR:Met1996Thr	PROT:Q13535	ATR	M	1996	T	M1996T	Benign/Likely benign	0	2	64	2
MUT:ATR:Met211Thr	PROT:Q13535	ATR	M	211	T	M211T	Benign/Likely benign	0	3	64	80
MUT:ATR:Pro2434Ala	PROT:Q13535	ATR	P	2434	A	P2434A	Benign	0	2	64	14
MUT:ATR:Pro775Ser	PROT:Q13535	ATR	P	775	S	P775S	Likely benign	0	1	64	11
MUT:ATR:Ser1607Asn	PROT:Q13535	ATR	S	1607	N	S1607N	Benign/Likely benign	0	2	64	6
MUT:ATR:Ser87Asn	PROT:Q13535	ATR	S	87	N	S87N	Likely benign	0	1	64	55
MUT:ATR:Thr516Asn	PROT:Q13535	ATR	T	516	N	T516N	Likely benign	0	1	64	33
MUT:ATR:Tyr2132Asp	PROT:Q13535	ATR	Y	2132	D	Y2132D	Benign/Likely benign	0	3	64	11
MUT:ATR:Val316Ile	PROT:Q13535	ATR	V	316	I	V316I	Benign	0	2	64	6
MUT:ATR:Val959Met	PROT:Q13535	ATR	V	959	M	V959M	Benign	0	2	64	7
MUT:ATRX:Ala107Val	PROT:P46100	ATRX	A	107	V	A107V	Likely benign	0	1	202	1
MUT:ATRX:Ala1178Thr	PROT:P46100	ATRX	A	1178	T	A1178T	Likely benign	0	1	202	17
MUT:ATRX:Ala1790Thr	PROT:P46100	ATRX	A	1790	T	A1790T	Likely pathogenic	1	1	202	16
MUT:ATRX:Ala2009Gly	PROT:P46100	ATRX	A	2009	G	A2009G	Benign	0	1	202	6
MUT:ATRX:Ala2371Thr	PROT:P46100	ATRX	A	2371	T	A2371T	Benign/Likely benign	0	1	202	8
MUT:ATRX:Ala419Val	PROT:P46100	ATRX	A	419	V	A419V	Likely benign	0	1	202	16
MUT:ATRX:Ala462Pro	PROT:P46100	ATRX	A	462	P	A462P	Benign	0	2	202	24
MUT:ATRX:Ala462Val	PROT:P46100	ATRX	A	462	V	A462V	Likely benign	0	1	202	24
MUT:ATRX:Ala707Gly	PROT:P46100	ATRX	A	707	G	A707G	Likely benign	0	1	202	1
MUT:ATRX:Ala771Glu	PROT:P46100	ATRX	A	771	E	A771E	Likely benign	0	1	202	3
MUT:ATRX:Ala833Val	PROT:P46100	ATRX	A	833	V	A833V	Likely benign	0	1	202	3
MUT:ATRX:Ala879Ser	PROT:P46100	ATRX	A	879	S	A879S	Likely benign	0	1	202	3
MUT:ATRX:Arg1135Thr	PROT:P46100	ATRX	R	1135	T	R1135T	Likely benign	0	1	202	6
MUT:ATRX:Arg1144Ser	PROT:P46100	ATRX	R	1144	S	R1144S	Likely benign	0	1	202	3
MUT:ATRX:Arg1302Lys	PROT:P46100	ATRX	R	1302	K	R1302K	Likely benign	0	1	202	10
MUT:ATRX:Arg1342Gln	PROT:P46100	ATRX	R	1342	Q	R1342Q	Likely benign	0	1	202	4
MUT:ATRX:Arg1369Gly	PROT:P46100	ATRX	R	1369	G	R1369G	Benign	0	1	202	17
MUT:ATRX:Arg1401Gln	PROT:P46100	ATRX	R	1401	Q	R1401Q	Likely benign	0	1	202	3
MUT:ATRX:Arg1403Gly	PROT:P46100	ATRX	R	1403	G	R1403G	Benign	0	1	202	1
MUT:ATRX:Arg1417Gln	PROT:P46100	ATRX	R	1417	Q	R1417Q	Likely benign	0	1	202	13
MUT:ATRX:Arg1661Cys	PROT:P46100	ATRX	R	1661	C	R1661C	Likely pathogenic	1	1	202	1
MUT:ATRX:Arg1742Lys	PROT:P46100	ATRX	R	1742	K	R1742K	Pathogenic	1	1	202	9
MUT:ATRX:Arg2085Cys	PROT:P46100	ATRX	R	2085	C	R2085C	Pathogenic/Likely pathogenic	1	2	202	2
MUT:ATRX:Arg2085His	PROT:P46100	ATRX	R	2085	H	R2085H	Pathogenic/Likely pathogenic	1	3	202	2
MUT:ATRX:Arg2085Leu	PROT:P46100	ATRX	R	2085	L	R2085L	Likely pathogenic	1	1	202	2
MUT:ATRX:Arg2131Gln	PROT:P46100	ATRX	R	2131	Q	R2131Q	Pathogenic/Likely pathogenic	1	4	202	27
MUT:ATRX:Arg2178Trp	PROT:P46100	ATRX	R	2178	W	R2178W	Pathogenic/Likely pathogenic	1	2	202	2
MUT:ATRX:Arg2271Gly	PROT:P46100	ATRX	R	2271	G	R2271G	Pathogenic	1	1	202	1
MUT:ATRX:Arg2407Gln	PROT:P46100	ATRX	R	2407	Q	R2407Q	Likely benign	0	1	202	10
MUT:ATRX:Arg246Cys	PROT:P46100	ATRX	R	246	C	R246C	Pathogenic/Likely pathogenic	1	3	202	33
MUT:ATRX:Arg246Gly	PROT:P46100	ATRX	R	246	G	R246G	Likely pathogenic	1	1	202	33
MUT:ATRX:Arg2474His	PROT:P46100	ATRX	R	2474	H	R2474H	Likely benign	0	1	202	77
MUT:ATRX:Arg390His	PROT:P46100	ATRX	R	390	H	R390H	Likely benign	0	1	202	2
MUT:ATRX:Arg444Gln	PROT:P46100	ATRX	R	444	Q	R444Q	Likely benign	0	1	202	6
MUT:ATRX:Arg498Gly	PROT:P46100	ATRX	R	498	G	R498G	Likely benign	0	1	202	51
MUT:ATRX:Arg654Gln	PROT:P46100	ATRX	R	654	Q	R654Q	Likely benign	0	1	202	2
MUT:ATRX:Arg654Gly	PROT:P46100	ATRX	R	654	G	R654G	Likely benign	0	1	202	2
MUT:ATRX:Arg658Cys	PROT:P46100	ATRX	R	658	C	R658C	Likely benign	0	1	202	2
MUT:ATRX:Arg666Gln	PROT:P46100	ATRX	R	666	Q	R666Q	Likely benign	0	1	202	2
MUT:ATRX:Arg696Thr	PROT:P46100	ATRX	R	696	T	R696T	Benign	0	1	202	4
MUT:ATRX:Arg840Ile	PROT:P46100	ATRX	R	840	I	R840I	Likely benign	0	1	202	3
MUT:ATRX:Arg840Thr	PROT:P46100	ATRX	R	840	T	R840T	Likely benign	0	1	202	3
MUT:ATRX:Arg905Thr	PROT:P46100	ATRX	R	905	T	R905T	Likely benign	0	1	202	8
MUT:ATRX:Arg907Gln	PROT:P46100	ATRX	R	907	Q	R907Q	Benign/Likely benign	0	2	202	10
MUT:ATRX:Asn1187Asp	PROT:P46100	ATRX	N	1187	D	N1187D	Likely benign	0	1	202	26
MUT:ATRX:Asn1214Ile	PROT:P46100	ATRX	N	1214	I	N1214I	Benign	0	1	202	25
MUT:ATRX:Asn12Ser	PROT:P46100	ATRX	N	12	S	N12S	Likely benign	0	1	202	13
MUT:ATRX:Asn1321Ser	PROT:P46100	ATRX	N	1321	S	N1321S	Benign	0	1	202	1
MUT:ATRX:Asn1438Tyr	PROT:P46100	ATRX	N	1438	Y	N1438Y	Likely benign	0	1	202	2
MUT:ATRX:Asn1694Asp	PROT:P46100	ATRX	N	1694	D	N1694D	Likely pathogenic	1	1	202	12
MUT:ATRX:Asn1705Ser	PROT:P46100	ATRX	N	1705	S	N1705S	Likely benign	0	1	202	1
MUT:ATRX:Asn179Ser	PROT:P46100	ATRX	N	179	S	N179S	Pathogenic/Likely pathogenic	1	2	202	12
MUT:ATRX:Asn1860Ser	PROT:P46100	ATRX	N	1860	S	N1860S	Benign/Likely benign	0	4	202	7
MUT:ATRX:Asn1969Ile	PROT:P46100	ATRX	N	1969	I	N1969I	Likely benign	0	1	202	7
MUT:ATRX:Asn2290Ser	PROT:P46100	ATRX	N	2290	S	N2290S	Benign/Likely benign	0	1	202	8
MUT:ATRX:Asn2312Ser	PROT:P46100	ATRX	N	2312	S	N2312S	Likely benign	0	1	202	22
MUT:ATRX:Asn2392Ser	PROT:P46100	ATRX	N	2392	S	N2392S	Benign	0	1	202	1
MUT:ATRX:Asn2419Ser	PROT:P46100	ATRX	N	2419	S	N2419S	Benign	0	1	202	22
MUT:ATRX:Asn2450Lys	PROT:P46100	ATRX	N	2450	K	N2450K	Benign	0	1	202	53
MUT:ATRX:Asn247Ser	PROT:P46100	ATRX	N	247	S	N247S	Likely pathogenic	1	1	202	34
MUT:ATRX:Asn306Ser	PROT:P46100	ATRX	N	306	S	N306S	Benign/Likely benign	0	1	202	1
MUT:ATRX:Asn323Ser	PROT:P46100	ATRX	N	323	S	N323S	Likely benign	0	1	202	7
MUT:ATRX:Asn424Lys	PROT:P46100	ATRX	N	424	K	N424K	Likely benign	0	1	202	14
MUT:ATRX:Asn477Ser	PROT:P46100	ATRX	N	477	S	N477S	Benign/Likely benign	0	1	202	39
MUT:ATRX:Asn570Ser	PROT:P46100	ATRX	N	570	S	N570S	Likely benign	0	1	202	2
MUT:ATRX:Asn597Asp	PROT:P46100	ATRX	N	597	D	N597D	Likely benign	0	1	202	1
MUT:ATRX:Asn843Tyr	PROT:P46100	ATRX	N	843	Y	N843Y	Likely benign	0	1	202	6
MUT:ATRX:Asn862Thr	PROT:P46100	ATRX	N	862	T	N862T	Benign	0	1	202	8
MUT:ATRX:Asp1014Asn	PROT:P46100	ATRX	D	1014	N	D1014N	Benign	0	1	202	1
MUT:ATRX:Asp1051Glu	PROT:P46100	ATRX	D	1051	E	D1051E	Likely benign	0	1	202	10
MUT:ATRX:Asp1058Gly	PROT:P46100	ATRX	D	1058	G	D1058G	Likely benign	0	1	202	3
MUT:ATRX:Asp1120Tyr	PROT:P46100	ATRX	D	1120	Y	D1120Y	Likely benign	0	1	202	4
MUT:ATRX:Asp1120Val	PROT:P46100	ATRX	D	1120	V	D1120V	Likely benign	0	1	202	4
MUT:ATRX:Asp1164Val	PROT:P46100	ATRX	D	1164	V	D1164V	Likely benign	0	1	202	3
MUT:ATRX:Asp1207Gly	PROT:P46100	ATRX	D	1207	G	D1207G	Likely benign	0	1	202	32
MUT:ATRX:Asp1222Asn	PROT:P46100	ATRX	D	1222	N	D1222N	Likely benign	0	2	202	17
MUT:ATRX:Asp1264Asn	PROT:P46100	ATRX	D	1264	N	D1264N	Likely benign	0	1	202	7
MUT:ATRX:Asp1293Gly	PROT:P46100	ATRX	D	1293	G	D1293G	Likely benign	0	1	202	1
MUT:ATRX:Asp1294His	PROT:P46100	ATRX	D	1294	H	D1294H	Benign/Likely benign	0	2	202	2
MUT:ATRX:Asp1378Glu	PROT:P46100	ATRX	D	1378	E	D1378E	Benign	0	1	202	26
MUT:ATRX:Asp1383Asn	PROT:P46100	ATRX	D	1383	N	D1383N	Likely benign	0	1	202	21
MUT:ATRX:Asp1615Glu	PROT:P46100	ATRX	D	1615	E	D1615E	Likely pathogenic	1	1	202	31
MUT:ATRX:Asp2035Gly	PROT:P46100	ATRX	D	2035	G	D2035G	Likely pathogenic	1	1	202	30
MUT:ATRX:Asp2035Val	PROT:P46100	ATRX	D	2035	V	D2035V	Pathogenic	1	1	202	30
MUT:ATRX:Asp421Asn	PROT:P46100	ATRX	D	421	N	D421N	Likely benign	0	1	202	17
MUT:ATRX:Asp527Glu	PROT:P46100	ATRX	D	527	E	D527E	Likely benign	0	1	202	22
MUT:ATRX:Asp543His	PROT:P46100	ATRX	D	543	H	D543H	Benign	0	1	202	6
MUT:ATRX:Asp569Gly	PROT:P46100	ATRX	D	569	G	D569G	Likely benign	0	1	202	1
MUT:ATRX:Asp604His	PROT:P46100	ATRX	D	604	H	D604H	Likely benign	0	1	202	3
MUT:ATRX:Asp705Gly	PROT:P46100	ATRX	D	705	G	D705G	Benign/Likely benign	0	1	202	1
MUT:ATRX:Asp726His	PROT:P46100	ATRX	D	726	H	D726H	Likely benign	0	1	202	2
MUT:ATRX:Asp848Tyr	PROT:P46100	ATRX	D	848	Y	D848Y	Likely pathogenic	1	1	202	1
MUT:ATRX:Asp861Asn	PROT:P46100	ATRX	D	861	N	D861N	Benign/Likely benign	0	1	202	9
MUT:ATRX:Asp922Asn	PROT:P46100	ATRX	D	922	N	D922N	Benign/Likely benign	0	1	202	1
MUT:ATRX:Asp959Gly	PROT:P46100	ATRX	D	959	G	D959G	Likely benign	0	1	202	3
MUT:ATRX:Asp975Asn	PROT:P46100	ATRX	D	975	N	D975N	Benign	0	2	202	1
MUT:ATRX:Asp980Gly	PROT:P46100	ATRX	D	980	G	D980G	Likely benign	0	1	202	2
MUT:ATRX:Asp997Asn	PROT:P46100	ATRX	D	997	N	D997N	Likely benign	0	1	202	12
MUT:ATRX:Cys1074Trp	PROT:P46100	ATRX	C	1074	W	C1074W	Benign	0	1	202	8
MUT:ATRX:Cys1122Phe	PROT:P46100	ATRX	C	1122	F	C1122F	Likely benign	0	1	202	2
MUT:ATRX:Cys1614Arg	PROT:P46100	ATRX	C	1614	R	C1614R	Pathogenic	1	1	202	30
MUT:ATRX:Cys220Tyr	PROT:P46100	ATRX	C	220	Y	C220Y	Pathogenic/Likely pathogenic	1	2	202	7
MUT:ATRX:Cys223Arg	PROT:P46100	ATRX	C	223	R	C223R	Likely pathogenic	1	1	202	10
MUT:ATRX:Cys243Arg	PROT:P46100	ATRX	C	243	R	C243R	Likely pathogenic	1	1	202	30
MUT:ATRX:Cys243Trp	PROT:P46100	ATRX	C	243	W	C243W	Likely pathogenic	1	1	202	30
MUT:ATRX:Cys243Tyr	PROT:P46100	ATRX	C	243	Y	C243Y	Likely pathogenic	1	1	202	30
MUT:ATRX:Cys280Tyr	PROT:P46100	ATRX	C	280	Y	C280Y	Likely pathogenic	1	1	202	27
MUT:ATRX:Cys335Ser	PROT:P46100	ATRX	C	335	S	C335S	Likely benign	0	1	202	3
MUT:ATRX:Cys450Arg	PROT:P46100	ATRX	C	450	R	C450R	Likely benign	0	1	202	12
MUT:ATRX:Cys605Tyr	PROT:P46100	ATRX	C	605	Y	C605Y	Likely benign	0	3	202	4
MUT:ATRX:Cys954Phe	PROT:P46100	ATRX	C	954	F	C954F	Likely benign	0	1	202	2
MUT:ATRX:Gln1008Arg	PROT:P46100	ATRX	Q	1008	R	Q1008R	Likely benign	0	1	202	1
MUT:ATRX:Gln1034Arg	PROT:P46100	ATRX	Q	1034	R	Q1034R	Likely benign	0	1	202	21
MUT:ATRX:Gln1105Arg	PROT:P46100	ATRX	Q	1105	R	Q1105R	Likely benign	0	1	202	19
MUT:ATRX:Gln119His	PROT:P46100	ATRX	Q	119	H	Q119H	Likely benign	0	1	202	1
MUT:ATRX:Gln468Glu	PROT:P46100	ATRX	Q	468	E	Q468E	Likely benign	0	1	202	30
MUT:ATRX:Gln483Pro	PROT:P46100	ATRX	Q	483	P	Q483P	Benign	0	1	202	45
MUT:ATRX:Gln545Glu	PROT:P46100	ATRX	Q	545	E	Q545E	Benign	0	1	202	4
MUT:ATRX:Gln770His	PROT:P46100	ATRX	Q	770	H	Q770H	Likely benign	0	1	202	2
MUT:ATRX:Gln883Arg	PROT:P46100	ATRX	Q	883	R	Q883R	Benign	0	1	202	4
MUT:ATRX:Glu1010Lys	PROT:P46100	ATRX	E	1010	K	E1010K	Likely benign	0	1	202	1
MUT:ATRX:Glu1024Ala	PROT:P46100	ATRX	E	1024	A	E1024A	Benign	0	1	202	11
MUT:ATRX:Glu1148Asp	PROT:P46100	ATRX	E	1148	D	E1148D	Likely benign	0	1	202	7
MUT:ATRX:Glu1183Asp	PROT:P46100	ATRX	E	1183	D	E1183D	Likely benign	0	1	202	22
MUT:ATRX:Glu1386Lys	PROT:P46100	ATRX	E	1386	K	E1386K	Likely benign	0	1	202	18
MUT:ATRX:Glu1397Lys	PROT:P46100	ATRX	E	1397	K	E1397K	Likely benign	0	1	202	7
MUT:ATRX:Glu1443Asp	PROT:P46100	ATRX	E	1443	D	E1443D	Benign	0	1	202	1
MUT:ATRX:Glu1458Lys	PROT:P46100	ATRX	E	1458	K	E1458K	Benign	0	1	202	16
MUT:ATRX:Glu1643Ala	PROT:P46100	ATRX	E	1643	A	E1643A	Likely benign	0	1	202	11
MUT:ATRX:Glu2263Asp	PROT:P46100	ATRX	E	2263	D	E2263D	Benign	0	1	202	2
MUT:ATRX:Glu2265Lys	PROT:P46100	ATRX	E	2265	K	E2265K	Likely pathogenic	1	1	202	4
MUT:ATRX:Glu271Asp	PROT:P46100	ATRX	E	271	D	E271D	Likely benign	0	1	202	36
MUT:ATRX:Glu472Lys	PROT:P46100	ATRX	E	472	K	E472K	Likely benign	0	1	202	34
MUT:ATRX:Glu481Gln	PROT:P46100	ATRX	E	481	Q	E481Q	Benign	0	1	202	43
MUT:ATRX:Glu482Asp	PROT:P46100	ATRX	E	482	D	E482D	Benign	0	1	202	44
MUT:ATRX:Glu557Gln	PROT:P46100	ATRX	E	557	Q	E557Q	Likely benign	0	1	202	7
MUT:ATRX:Glu637Asp	PROT:P46100	ATRX	E	637	D	E637D	Likely benign	0	1	202	3
MUT:ATRX:Glu723Asp	PROT:P46100	ATRX	E	723	D	E723D	Benign/Likely benign	0	3	202	1
MUT:ATRX:Glu740Lys	PROT:P46100	ATRX	E	740	K	E740K	Likely benign	0	1	202	5
MUT:ATRX:Glu822Asp	PROT:P46100	ATRX	E	822	D	E822D	Likely benign	0	1	202	3
MUT:ATRX:Glu824Asp	PROT:P46100	ATRX	E	824	D	E824D	Likely benign	0	1	202	5
MUT:ATRX:Glu884Asp	PROT:P46100	ATRX	E	884	D	E884D	Benign/Likely benign	0	1	202	3
MUT:ATRX:Glu884Lys	PROT:P46100	ATRX	E	884	K	E884K	Benign/Likely benign	0	1	202	3
MUT:ATRX:Glu886Asp	PROT:P46100	ATRX	E	886	D	E886D	Likely benign	0	1	202	1
MUT:ATRX:Glu886Gln	PROT:P46100	ATRX	E	886	Q	E886Q	Benign	0	1	202	1
MUT:ATRX:Glu928Gly	PROT:P46100	ATRX	E	928	G	E928G	Likely benign	0	1	202	2
MUT:ATRX:Glu929Gln	PROT:P46100	ATRX	E	929	Q	E929Q	Benign	0	1	202	1
MUT:ATRX:Glu944Gln	PROT:P46100	ATRX	E	944	Q	E944Q	Likely benign	0	1	202	12
MUT:ATRX:Glu966Asp	PROT:P46100	ATRX	E	966	D	E966D	Likely benign	0	1	202	1
MUT:ATRX:Glu979Gln	PROT:P46100	ATRX	E	979	Q	E979Q	Likely benign	0	1	202	1
MUT:ATRX:Glu990Lys	PROT:P46100	ATRX	E	990	K	E990K	Likely benign	0	1	202	12
MUT:ATRX:Gly1031Val	PROT:P46100	ATRX	G	1031	V	G1031V	Likely benign	0	1	202	18
MUT:ATRX:Gly1042Arg	PROT:P46100	ATRX	G	1042	R	G1042R	Benign	0	1	202	19
MUT:ATRX:Gly1069Glu	PROT:P46100	ATRX	G	1069	E	G1069E	Likely benign	0	1	202	3
MUT:ATRX:Gly1088Ser	PROT:P46100	ATRX	G	1088	S	G1088S	Likely benign	0	1	202	22
MUT:ATRX:Gly161Arg	PROT:P46100	ATRX	G	161	R	G161R	Likely benign	0	1	202	30
MUT:ATRX:Gly1864Val	PROT:P46100	ATRX	G	1864	V	G1864V	Likely benign	0	1	202	3
MUT:ATRX:Gly1934Arg	PROT:P46100	ATRX	G	1934	R	G1934R	Likely benign	0	1	202	6
MUT:ATRX:Gly1937Arg	PROT:P46100	ATRX	G	1937	R	G1937R	Likely benign	0	1	202	9
MUT:ATRX:Gly1974Ala	PROT:P46100	ATRX	G	1974	A	G1974A	Likely benign	0	1	202	6
MUT:ATRX:Gly1974Glu	PROT:P46100	ATRX	G	1974	E	G1974E	Likely benign	0	1	202	6
MUT:ATRX:Gly2485Glu	PROT:P46100	ATRX	G	2485	E	G2485E	Likely benign	0	1	202	88
MUT:ATRX:Gly490Ser	PROT:P46100	ATRX	G	490	S	G490S	Likely benign	0	1	202	52
MUT:ATRX:Gly548Asp	PROT:P46100	ATRX	G	548	D	G548D	Likely benign	0	1	202	1
MUT:ATRX:Gly573Cys	PROT:P46100	ATRX	G	573	C	G573C	Likely benign	0	1	202	5
MUT:ATRX:Gly619Asp	PROT:P46100	ATRX	G	619	D	G619D	Benign	0	1	202	2
MUT:ATRX:Gly795Arg	PROT:P46100	ATRX	G	795	R	G795R	Likely benign	0	1	202	4
MUT:ATRX:Gly832Ser	PROT:P46100	ATRX	G	832	S	G832S	Benign	0	1	202	4
MUT:ATRX:Gly859Arg	PROT:P46100	ATRX	G	859	R	G859R	Likely benign	0	1	202	9
MUT:ATRX:Gly893Arg	PROT:P46100	ATRX	G	893	R	G893R	Likely benign	0	1	202	1
MUT:ATRX:His1343Tyr	PROT:P46100	ATRX	H	1343	Y	H1343Y	Benign	0	1	202	3
MUT:ATRX:His1609Arg	PROT:P46100	ATRX	H	1609	R	H1609R	Likely pathogenic	1	1	202	25
MUT:ATRX:His1609Tyr	PROT:P46100	ATRX	H	1609	Y	H1609Y	Likely pathogenic	1	1	202	25
MUT:ATRX:His189Gln	PROT:P46100	ATRX	H	189	Q	H189Q	Pathogenic	1	1	202	2
MUT:ATRX:His189Tyr	PROT:P46100	ATRX	H	189	Y	H189Y	Likely pathogenic	1	1	202	2
MUT:ATRX:His475Asp	PROT:P46100	ATRX	H	475	D	H475D	Benign	0	1	202	37
MUT:ATRX:His544Arg	PROT:P46100	ATRX	H	544	R	H544R	Likely benign	0	1	202	5
MUT:ATRX:His758Arg	PROT:P46100	ATRX	H	758	R	H758R	Likely benign	0	1	202	1
MUT:ATRX:His865Gln	PROT:P46100	ATRX	H	865	Q	H865Q	Benign	0	1	202	5
MUT:ATRX:Ile1035Val	PROT:P46100	ATRX	I	1035	V	I1035V	Benign	0	1	202	22
MUT:ATRX:Ile1049Thr	PROT:P46100	ATRX	I	1049	T	I1049T	Likely benign	0	1	202	12
MUT:ATRX:Ile1049Val	PROT:P46100	ATRX	I	1049	V	I1049V	Likely benign	0	1	202	12
MUT:ATRX:Ile1132Lys	PROT:P46100	ATRX	I	1132	K	I1132K	Likely benign	0	1	202	8
MUT:ATRX:Ile1208Thr	PROT:P46100	ATRX	I	1208	T	I1208T	Likely benign	0	1	202	31
MUT:ATRX:Ile1208Val	PROT:P46100	ATRX	I	1208	V	I1208V	Benign	0	1	202	31
MUT:ATRX:Ile1216Val	PROT:P46100	ATRX	I	1216	V	I1216V	Benign	0	1	202	23
MUT:ATRX:Ile1680Thr	PROT:P46100	ATRX	I	1680	T	I1680T	Pathogenic	1	1	202	20
MUT:ATRX:Ile1723Val	PROT:P46100	ATRX	I	1723	V	I1723V	Likely benign	0	1	202	2
MUT:ATRX:Ile1784Val	PROT:P46100	ATRX	I	1784	V	I1784V	Likely pathogenic	1	1	202	10
MUT:ATRX:Ile2248Thr	PROT:P46100	ATRX	I	2248	T	I2248T	Likely pathogenic	1	1	202	3
MUT:ATRX:Ile2291Met	PROT:P46100	ATRX	I	2291	M	I2291M	Benign/Likely benign	0	1	202	9
MUT:ATRX:Ile2390Val	PROT:P46100	ATRX	I	2390	V	I2390V	Likely benign	0	1	202	1
MUT:ATRX:Ile347Met	PROT:P46100	ATRX	I	347	M	I347M	Benign/Likely benign	0	1	202	6
MUT:ATRX:Ile360Val	PROT:P46100	ATRX	I	360	V	I360V	Benign	0	1	202	12
MUT:ATRX:Ile435Thr	PROT:P46100	ATRX	I	435	T	I435T	Likely benign	0	1	202	3
MUT:ATRX:Ile435Val	PROT:P46100	ATRX	I	435	V	I435V	Benign/Likely benign	0	3	202	3
MUT:ATRX:Ile565Val	PROT:P46100	ATRX	I	565	V	I565V	Likely benign	0	1	202	1
MUT:ATRX:Ile600Val	PROT:P46100	ATRX	I	600	V	I600V	Likely benign	0	2	202	1
MUT:ATRX:Ile708Val	PROT:P46100	ATRX	I	708	V	I708V	Likely benign	0	1	202	2
MUT:ATRX:Ile737Val	PROT:P46100	ATRX	I	737	V	I737V	Likely benign	0	1	202	6
MUT:ATRX:Ile754Met	PROT:P46100	ATRX	I	754	M	I754M	Benign	0	1	202	2
MUT:ATRX:Ile802Val	PROT:P46100	ATRX	I	802	V	I802V	Likely benign	0	1	202	3
MUT:ATRX:Ile803Met	PROT:P46100	ATRX	I	803	M	I803M	Likely benign	0	1	202	2
MUT:ATRX:Ile825Leu	PROT:P46100	ATRX	I	825	L	I825L	Likely benign	0	1	202	6
MUT:ATRX:Ile831Met	PROT:P46100	ATRX	I	831	M	I831M	Benign	0	1	202	5
MUT:ATRX:Ile841Val	PROT:P46100	ATRX	I	841	V	I841V	Likely benign	0	1	202	4
MUT:ATRX:Ile901Val	PROT:P46100	ATRX	I	901	V	I901V	Benign	0	1	202	4
MUT:ATRX:Leu1284Phe	PROT:P46100	ATRX	L	1284	F	L1284F	Likely benign	0	1	202	1
MUT:ATRX:Leu1645Ser	PROT:P46100	ATRX	L	1645	S	L1645S	Likely pathogenic	1	1	202	9
MUT:ATRX:Leu1656Ser	PROT:P46100	ATRX	L	1656	S	L1656S	Likely pathogenic	1	1	202	2
MUT:ATRX:Leu2214Val	PROT:P46100	ATRX	L	2214	V	L2214V	Likely benign	0	1	202	6
MUT:ATRX:Leu253Ser	PROT:P46100	ATRX	L	253	S	L253S	Likely pathogenic	1	2	202	40
MUT:ATRX:Leu346Val	PROT:P46100	ATRX	L	346	V	L346V	Likely benign	0	1	202	5
MUT:ATRX:Leu409Ser	PROT:P46100	ATRX	L	409	S	L409S	Pathogenic	1	1	202	6
MUT:ATRX:Leu464Val	PROT:P46100	ATRX	L	464	V	L464V	Likely benign	0	1	202	26
MUT:ATRX:Leu639Trp	PROT:P46100	ATRX	L	639	W	L639W	Likely benign	0	1	202	5
MUT:ATRX:Leu647Ile	PROT:P46100	ATRX	L	647	I	L647I	Likely benign	0	1	202	9
MUT:ATRX:Leu738Val	PROT:P46100	ATRX	L	738	V	L738V	Likely benign	0	1	202	7
MUT:ATRX:Lys1001Asn	PROT:P46100	ATRX	K	1001	N	K1001N	Likely benign	0	1	202	8
MUT:ATRX:Lys1004Asn	PROT:P46100	ATRX	K	1004	N	K1004N	Likely benign	0	1	202	5
MUT:ATRX:Lys1030Asn	PROT:P46100	ATRX	K	1030	N	K1030N	Likely benign	0	1	202	17
MUT:ATRX:Lys1045Glu	PROT:P46100	ATRX	K	1045	E	K1045E	Likely benign	0	1	202	16
MUT:ATRX:Lys1055Glu	PROT:P46100	ATRX	K	1055	E	K1055E	Likely benign	0	1	202	6
MUT:ATRX:Lys1056Glu	PROT:P46100	ATRX	K	1056	E	K1056E	Likely benign	0	1	202	5
MUT:ATRX:Lys1083Asn	PROT:P46100	ATRX	K	1083	N	K1083N	Likely benign	0	1	202	17
MUT:ATRX:Lys1147Arg	PROT:P46100	ATRX	K	1147	R	K1147R	Likely benign	0	1	202	6
MUT:ATRX:Lys1168Asn	PROT:P46100	ATRX	K	1168	N	K1168N	Benign	0	1	202	7
MUT:ATRX:Lys1169Gln	PROT:P46100	ATRX	K	1169	Q	K1169Q	Likely benign	0	1	202	8
MUT:ATRX:Lys1359Arg	PROT:P46100	ATRX	K	1359	R	K1359R	Benign	0	1	202	7
MUT:ATRX:Lys1364Thr	PROT:P46100	ATRX	K	1364	T	K1364T	Likely benign	0	1	202	12
MUT:ATRX:Lys1409Asn	PROT:P46100	ATRX	K	1409	N	K1409N	Likely benign	0	1	202	5
MUT:ATRX:Lys1650Asn	PROT:P46100	ATRX	K	1650	N	K1650N	Pathogenic	1	1	202	4
MUT:ATRX:Lys1802Thr	PROT:P46100	ATRX	K	1802	T	K1802T	Likely pathogenic	1	1	202	16
MUT:ATRX:Lys1936Gln	PROT:P46100	ATRX	K	1936	Q	K1936Q	Likely benign	0	1	202	8
MUT:ATRX:Lys251Glu	PROT:P46100	ATRX	K	251	E	K251E	Pathogenic	1	1	202	38
MUT:ATRX:Lys318Glu	PROT:P46100	ATRX	K	318	E	K318E	Likely benign	0	1	202	2
MUT:ATRX:Lys433Glu	PROT:P46100	ATRX	K	433	E	K433E	Benign	0	1	202	5
MUT:ATRX:Lys463Gln	PROT:P46100	ATRX	K	463	Q	K463Q	Likely benign	0	1	202	25
MUT:ATRX:Lys499Arg	PROT:P46100	ATRX	K	499	R	K499R	Likely benign	0	1	202	50
MUT:ATRX:Lys581Gln	PROT:P46100	ATRX	K	581	Q	K581Q	Likely benign	0	1	202	6
MUT:ATRX:Lys616Glu	PROT:P46100	ATRX	K	616	E	K616E	Benign	0	1	202	0
MUT:ATRX:Lys715Thr	PROT:P46100	ATRX	K	715	T	K715T	Likely benign	0	1	202	0
MUT:ATRX:Lys793Glu	PROT:P46100	ATRX	K	793	E	K793E	Likely benign	0	1	202	5
MUT:ATRX:Lys799Asn	PROT:P46100	ATRX	K	799	N	K799N	Benign	0	1	202	0
MUT:ATRX:Lys806Gln	PROT:P46100	ATRX	K	806	Q	K806Q	Likely benign	0	1	202	0
MUT:ATRX:Lys826Asn	PROT:P46100	ATRX	K	826	N	K826N	Likely benign	0	1	202	7
MUT:ATRX:Lys858Asn	PROT:P46100	ATRX	K	858	N	K858N	Likely benign	0	1	202	8
MUT:ATRX:Lys866Thr	PROT:P46100	ATRX	K	866	T	K866T	Benign	0	1	202	4
MUT:ATRX:Lys897Asn	PROT:P46100	ATRX	K	897	N	K897N	Likely benign	0	1	202	0
MUT:ATRX:Lys910Glu	PROT:P46100	ATRX	K	910	E	K910E	Benign	0	1	202	13
MUT:ATRX:Lys938Glu	PROT:P46100	ATRX	K	938	E	K938E	Likely benign	0	1	202	8
MUT:ATRX:Met1761Val	PROT:P46100	ATRX	M	1761	V	M1761V	Likely pathogenic	1	2	202	11
MUT:ATRX:Met2287Val	PROT:P46100	ATRX	M	2287	V	M2287V	Likely benign	0	1	202	5
MUT:ATRX:Met2410Thr	PROT:P46100	ATRX	M	2410	T	M2410T	Benign/Likely benign	0	1	202	13
MUT:ATRX:Met2446Leu	PROT:P46100	ATRX	M	2446	L	M2446L	Benign	0	1	202	49
MUT:ATRX:Met2467Ile	PROT:P46100	ATRX	M	2467	I	M2467I	Benign	0	1	202	70
MUT:ATRX:Met2467Thr	PROT:P46100	ATRX	M	2467	T	M2467T	Likely benign	0	1	202	70
MUT:ATRX:Met2479Thr	PROT:P46100	ATRX	M	2479	T	M2479T	Benign	0	2	202	82
MUT:ATRX:Met2492Val	PROT:P46100	ATRX	M	2492	V	M2492V	Likely benign	0	1	202	95
MUT:ATRX:Met40Val	PROT:P46100	ATRX	M	40	V	M40V	Benign	0	1	202	6
MUT:ATRX:Met515Val	PROT:P46100	ATRX	M	515	V	M515V	Likely benign	0	1	202	34
MUT:ATRX:Met860Ile	PROT:P46100	ATRX	M	860	I	M860I	Benign	0	1	202	10
MUT:ATRX:Phe1780Tyr	PROT:P46100	ATRX	F	1780	Y	F1780Y	Likely pathogenic	1	1	202	6
MUT:ATRX:Phe847Ser	PROT:P46100	ATRX	F	847	S	F847S	Benign/Likely benign	0	2	202	2
MUT:ATRX:Phe888Leu	PROT:P46100	ATRX	F	888	L	F888L	Benign	0	1	202	1
MUT:ATRX:Pro1029Leu	PROT:P46100	ATRX	P	1029	L	P1029L	Likely benign	0	1	202	16
MUT:ATRX:Pro1228Ser	PROT:P46100	ATRX	P	1228	S	P1228S	Benign	0	1	202	11
MUT:ATRX:Pro1711Ser	PROT:P46100	ATRX	P	1711	S	P1711S	Pathogenic	1	1	202	5
MUT:ATRX:Pro190Ala	PROT:P46100	ATRX	P	190	A	P190A	Likely pathogenic	1	1	202	1
MUT:ATRX:Pro190Leu	PROT:P46100	ATRX	P	190	L	P190L	Likely pathogenic	1	1	202	1
MUT:ATRX:Pro2299Leu	PROT:P46100	ATRX	P	2299	L	P2299L	Benign	0	1	202	17
MUT:ATRX:Pro2462Thr	PROT:P46100	ATRX	P	2462	T	P2462T	Likely benign	0	1	202	65
MUT:ATRX:Pro2477Thr	PROT:P46100	ATRX	P	2477	T	P2477T	Likely benign	0	1	202	80
MUT:ATRX:Pro2478Ser	PROT:P46100	ATRX	P	2478	S	P2478S	Benign	0	1	202	81
MUT:ATRX:Pro270Arg	PROT:P46100	ATRX	P	270	R	P270R	Likely pathogenic	1	1	202	37
MUT:ATRX:Pro270Leu	PROT:P46100	ATRX	P	270	L	P270L	Pathogenic	1	1	202	37
MUT:ATRX:Pro449Thr	PROT:P46100	ATRX	P	449	T	P449T	Benign	0	1	202	11
MUT:ATRX:Pro502Thr	PROT:P46100	ATRX	P	502	T	P502T	Likely benign	0	1	202	47
MUT:ATRX:Pro521Ala	PROT:P46100	ATRX	P	521	A	P521A	Likely benign	0	2	202	28
MUT:ATRX:Pro609Ala	PROT:P46100	ATRX	P	609	A	P609A	Benign	0	1	202	7
MUT:ATRX:Pro667Leu	PROT:P46100	ATRX	P	667	L	P667L	Benign/Likely benign	0	1	202	1
MUT:ATRX:Pro672Ala	PROT:P46100	ATRX	P	672	A	P672A	Likely benign	0	1	202	2
MUT:ATRX:Pro842Ser	PROT:P46100	ATRX	P	842	S	P842S	Benign/Likely benign	0	1	202	5
MUT:ATRX:Ser1073Thr	PROT:P46100	ATRX	S	1073	T	S1073T	Benign/Likely benign	0	1	202	7
MUT:ATRX:Ser1076Ala	PROT:P46100	ATRX	S	1076	A	S1076A	Likely benign	0	1	202	10
MUT:ATRX:Ser1110Pro	PROT:P46100	ATRX	S	1110	P	S1110P	Likely benign	0	1	202	14
MUT:ATRX:Ser1125Pro	PROT:P46100	ATRX	S	1125	P	S1125P	Likely benign	0	1	202	1
MUT:ATRX:Ser1141Thr	PROT:P46100	ATRX	S	1141	T	S1141T	Likely benign	0	1	202	0
MUT:ATRX:Ser1174Phe	PROT:P46100	ATRX	S	1174	F	S1174F	Likely benign	0	1	202	13
MUT:ATRX:Ser1328Tyr	PROT:P46100	ATRX	S	1328	Y	S1328Y	Benign	0	1	202	0
MUT:ATRX:Ser1376Asn	PROT:P46100	ATRX	S	1376	N	S1376N	Likely benign	0	1	202	24
MUT:ATRX:Ser1620Arg	PROT:P46100	ATRX	S	1620	R	S1620R	Benign	0	1	202	34
MUT:ATRX:Ser1620Asn	PROT:P46100	ATRX	S	1620	N	S1620N	Likely benign	0	1	202	34
MUT:ATRX:Ser1772Tyr	PROT:P46100	ATRX	S	1772	Y	S1772Y	Likely pathogenic	1	1	202	0
MUT:ATRX:Ser2041Asn	PROT:P46100	ATRX	S	2041	N	S2041N	Pathogenic	1	1	202	24
MUT:ATRX:Ser2043Pro	PROT:P46100	ATRX	S	2043	P	S2043P	Likely pathogenic	1	1	202	22
MUT:ATRX:Ser2058Gly	PROT:P46100	ATRX	S	2058	G	S2058G	Likely benign	0	1	202	7
MUT:ATRX:Ser2220Leu	PROT:P46100	ATRX	S	2220	L	S2220L	Benign	0	1	202	0
MUT:ATRX:Ser313Cys	PROT:P46100	ATRX	S	313	C	S313C	Likely benign	0	1	202	1
MUT:ATRX:Ser334Phe	PROT:P46100	ATRX	S	334	F	S334F	Likely benign	0	1	202	4
MUT:ATRX:Ser338Cys	PROT:P46100	ATRX	S	338	C	S338C	Likely benign	0	1	202	0
MUT:ATRX:Ser338Pro	PROT:P46100	ATRX	S	338	P	S338P	Likely benign	0	1	202	0
MUT:ATRX:Ser384Arg	PROT:P46100	ATRX	S	384	R	S384R	Likely benign	0	1	202	1
MUT:ATRX:Ser415Tyr	PROT:P46100	ATRX	S	415	Y	S415Y	Likely benign	0	1	202	12
MUT:ATRX:Ser460Leu	PROT:P46100	ATRX	S	460	L	S460L	Likely benign	0	1	202	22
MUT:ATRX:Ser465Leu	PROT:P46100	ATRX	S	465	L	S465L	Likely benign	0	1	202	27
MUT:ATRX:Ser471Gly	PROT:P46100	ATRX	S	471	G	S471G	Likely benign	0	1	202	33
MUT:ATRX:Ser471Ile	PROT:P46100	ATRX	S	471	I	S471I	Likely benign	0	1	202	33
MUT:ATRX:Ser48Cys	PROT:P46100	ATRX	S	48	C	S48C	Likely benign	0	1	202	2
MUT:ATRX:Ser48Gly	PROT:P46100	ATRX	S	48	G	S48G	Likely benign	0	1	202	2
MUT:ATRX:Ser496Cys	PROT:P46100	ATRX	S	496	C	S496C	Likely benign	0	1	202	53
MUT:ATRX:Ser519Ala	PROT:P46100	ATRX	S	519	A	S519A	Likely benign	0	1	202	30
MUT:ATRX:Ser549Thr	PROT:P46100	ATRX	S	549	T	S549T	Likely benign	0	1	202	0
MUT:ATRX:Ser550Ile	PROT:P46100	ATRX	S	550	I	S550I	Likely benign	0	1	202	0
MUT:ATRX:Ser560Cys	PROT:P46100	ATRX	S	560	C	S560C	Benign	0	1	202	6
MUT:ATRX:Ser634Thr	PROT:P46100	ATRX	S	634	T	S634T	Likely benign	0	1	202	0
MUT:ATRX:Ser651Cys	PROT:P46100	ATRX	S	651	C	S651C	Likely benign	0	1	202	5
MUT:ATRX:Ser675Ala	PROT:P46100	ATRX	S	675	A	S675A	Benign	0	1	202	1
MUT:ATRX:Ser706Arg	PROT:P46100	ATRX	S	706	R	S706R	Benign/Likely benign	0	1	202	0
MUT:ATRX:Ser706Thr	PROT:P46100	ATRX	S	706	T	S706T	Benign	0	1	202	0
MUT:ATRX:Ser742Gly	PROT:P46100	ATRX	S	742	G	S742G	Benign	0	1	202	3
MUT:ATRX:Ser742Thr	PROT:P46100	ATRX	S	742	T	S742T	Benign	0	1	202	3
MUT:ATRX:Ser745Asn	PROT:P46100	ATRX	S	745	N	S745N	Likely benign	0	1	202	0
MUT:ATRX:Ser745Thr	PROT:P46100	ATRX	S	745	T	S745T	Likely benign	0	1	202	0
MUT:ATRX:Ser750Leu	PROT:P46100	ATRX	S	750	L	S750L	Likely benign	0	1	202	0
MUT:ATRX:Ser76Leu	PROT:P46100	ATRX	S	76	L	S76L	Benign	0	1	202	2
MUT:ATRX:Ser800Arg	PROT:P46100	ATRX	S	800	R	S800R	Likely benign	0	1	202	1
MUT:ATRX:Ser814Cys	PROT:P46100	ATRX	S	814	C	S814C	Likely benign	0	1	202	0
MUT:ATRX:Ser827Asn	PROT:P46100	ATRX	S	827	N	S827N	Benign	0	1	202	8
MUT:ATRX:Ser875Pro	PROT:P46100	ATRX	S	875	P	S875P	Likely benign	0	1	202	0
MUT:ATRX:Ser946Ile	PROT:P46100	ATRX	S	946	I	S946I	Likely benign	0	1	202	10
MUT:ATRX:Thr1053Asn	PROT:P46100	ATRX	T	1053	N	T1053N	Benign/Likely benign	0	1	202	8
MUT:ATRX:Thr1303Ala	PROT:P46100	ATRX	T	1303	A	T1303A	Benign/Likely benign	0	1	202	11
MUT:ATRX:Thr1358Ala	PROT:P46100	ATRX	T	1358	A	T1358A	Likely benign	0	1	202	6
MUT:ATRX:Thr1621Met	PROT:P46100	ATRX	T	1621	M	T1621M	Pathogenic/Likely pathogenic	1	3	202	33
MUT:ATRX:Thr2Ser	PROT:P46100	ATRX	T	2	S	T2S	Likely benign	0	1	202	23
MUT:ATRX:Thr320Ser	PROT:P46100	ATRX	T	320	S	T320S	Likely benign	0	1	202	4
MUT:ATRX:Thr429Ser	PROT:P46100	ATRX	T	429	S	T429S	Likely benign	0	1	202	9
MUT:ATRX:Thr441Ala	PROT:P46100	ATRX	T	441	A	T441A	Likely benign	0	1	202	3
MUT:ATRX:Thr485Arg	PROT:P46100	ATRX	T	485	R	T485R	Likely benign	0	1	202	47
MUT:ATRX:Thr670Ile	PROT:P46100	ATRX	T	670	I	T670I	Benign	0	1	202	2
MUT:ATRX:Thr752Ile	PROT:P46100	ATRX	T	752	I	T752I	Likely benign	0	1	202	0
MUT:ATRX:Thr769Ala	PROT:P46100	ATRX	T	769	A	T769A	Likely benign	0	1	202	1
MUT:ATRX:Thr792Ile	PROT:P46100	ATRX	T	792	I	T792I	Likely benign	0	1	202	4
MUT:ATRX:Thr810Asn	PROT:P46100	ATRX	T	810	N	T810N	Benign	0	1	202	2
MUT:ATRX:Thr844Ala	PROT:P46100	ATRX	T	844	A	T844A	Benign/Likely benign	0	1	202	5
MUT:ATRX:Thr844Lys	PROT:P46100	ATRX	T	844	K	T844K	Benign	0	1	202	5
MUT:ATRX:Thr870Ile	PROT:P46100	ATRX	T	870	I	T870I	Likely benign	0	1	202	0
MUT:ATRX:Thr894Ile	PROT:P46100	ATRX	T	894	I	T894I	Benign	0	1	202	0
MUT:ATRX:Thr894Pro	PROT:P46100	ATRX	T	894	P	T894P	Benign/Likely benign	0	1	202	0
MUT:ATRX:Thr900Ala	PROT:P46100	ATRX	T	900	A	T900A	Benign	0	1	202	3
MUT:ATRX:Thr918Ile	PROT:P46100	ATRX	T	918	I	T918I	Likely benign	0	1	202	5
MUT:ATRX:Tyr1419Ser	PROT:P46100	ATRX	Y	1419	S	Y1419S	Likely benign	0	1	202	15
MUT:ATRX:Tyr1683Cys	PROT:P46100	ATRX	Y	1683	C	Y1683C	Likely pathogenic	1	1	202	23
MUT:ATRX:Tyr1847Cys	PROT:P46100	ATRX	Y	1847	C	Y1847C	Likely pathogenic	1	2	202	2
MUT:ATRX:Tyr2084His	PROT:P46100	ATRX	Y	2084	H	Y2084H	Pathogenic	1	1	202	1
MUT:ATRX:Tyr2163Cys	PROT:P46100	ATRX	Y	2163	C	Y2163C	Pathogenic	1	1	202	5
MUT:ATRX:Tyr2460Cys	PROT:P46100	ATRX	Y	2460	C	Y2460C	Likely benign	0	1	202	63
MUT:ATRX:Tyr266Cys	PROT:P46100	ATRX	Y	266	C	Y266C	Likely pathogenic	1	1	202	41
MUT:ATRX:Val1181Leu	PROT:P46100	ATRX	V	1181	L	V1181L	Benign	0	2	202	20
MUT:ATRX:Val1366Asp	PROT:P46100	ATRX	V	1366	D	V1366D	Benign	0	1	202	14
MUT:ATRX:Val1366Ile	PROT:P46100	ATRX	V	1366	I	V1366I	Benign/Likely benign	0	1	202	14
MUT:ATRX:Val1979Leu	PROT:P46100	ATRX	V	1979	L	V1979L	Likely benign	0	1	202	1
MUT:ATRX:Val348Leu	PROT:P46100	ATRX	V	348	L	V348L	Benign	0	1	202	7
MUT:ATRX:Val398Leu	PROT:P46100	ATRX	V	398	L	V398L	Likely benign	0	1	202	5
MUT:ATRX:Val542Ala	PROT:P46100	ATRX	V	542	A	V542A	Benign/Likely benign	0	2	202	7
MUT:ATRX:Val556Met	PROT:P46100	ATRX	V	556	M	V556M	Benign/Likely benign	0	1	202	6
MUT:ATRX:Val695Leu	PROT:P46100	ATRX	V	695	L	V695L	Likely benign	0	1	202	3
MUT:ATRX:Val725Ala	PROT:P46100	ATRX	V	725	A	V725A	Benign	0	1	202	1
MUT:ATRX:Val936Phe	PROT:P46100	ATRX	V	936	F	V936F	Likely benign	0	1	202	6
MUT:ATRX:Val957Leu	PROT:P46100	ATRX	V	957	L	V957L	Benign	0	1	202	1
MUT:ATXN2:Asn331Ser	PROT:Q99700	ATXN2	N	331	S	N331S	Benign	0	3	54	18
MUT:ATXN2:Asn89Ser	PROT:Q99700	ATXN2	N	89	S	N89S	Likely benign	0	1	54	159
MUT:ATXN2:Ile564Val	PROT:Q99700	ATXN2	I	564	V	I564V	Likely benign	0	1	54	9
MUT:ATXN2:Ile685Thr	PROT:Q99700	ATXN2	I	685	T	I685T	Likely benign	0	1	54	1
MUT:ATXN2:Met1108Val	PROT:Q99700	ATXN2	M	1108	V	M1108V	Benign	0	1	54	174
MUT:ATXN2:Pro49Gln	PROT:Q99700	ATXN2	P	49	Q	P49Q	Likely benign	0	1	54	199
MUT:ATXN2:Pro950Ser	PROT:Q99700	ATXN2	P	950	S	P950S	Likely benign	0	1	54	16
MUT:ATXN2:Thr557Ala	PROT:Q99700	ATXN2	T	557	A	T557A	Likely benign	0	1	54	16
MUT:ATXN7L3:Pro100Leu	PROT:Q14CW9	ATXN7L3	P	100	L	P100L	Likely pathogenic	1	1	6	29
MUT:AUH:Ala240Val	PROT:Q13825	AUH	A	240	V	A240V	Likely pathogenic	1	1	3	1
MUT:AUH:Asp195Ala	PROT:Q13825	AUH	D	195	A	D195A	Likely pathogenic	1	1	3	9
MUT:AUH:Cys26Tyr	PROT:Q13825	AUH	C	26	Y	C26Y	Benign	0	1	3	178
MUT:AUH:Gly186Cys	PROT:Q13825	AUH	G	186	C	G186C	Likely pathogenic	1	1	3	18
MUT:AUH:Gly187Ser	PROT:Q13825	AUH	G	187	S	G187S	Pathogenic	1	1	3	17
MUT:AUH:Gly217Asp	PROT:Q13825	AUH	G	217	D	G217D	Pathogenic	1	1	3	13
MUT:AUH:Pro61His	PROT:Q13825	AUH	P	61	H	P61H	Benign/Likely benign	0	1	3	143
MUT:AURKB:Arg283Cys	PROT:Q96GD4	AURKB	R	283	C	R283C	Likely pathogenic	1	1	20	4
MUT:AURKC:Cys229Tyr	PROT:Q9UQB9	AURKC	C	229	Y	C229Y	Pathogenic	1	1	8	27
MUT:AURKC:Ile79Val	PROT:Q9UQB9	AURKC	I	79	V	I79V	Benign	0	2	8	3
MUT:AURKC:Thr22Ala	PROT:Q9UQB9	AURKC	T	22	A	T22A	Likely benign	0	1	8	31
MUT:AXIN1:Arg382His	PROT:O15169	AXIN1	R	382	H	R382H	Likely benign	0	1	11	5
MUT:AXIN1:Gly425Ser	PROT:O15169	AXIN1	G	425	S	G425S	Benign	0	1	11	38
MUT:AXIN2:Ala417Gly	PROT:Q9Y2T1	AXIN2	A	417	G	A417G	Likely benign	0	1	18	32
MUT:AXIN2:Ala417Val	PROT:Q9Y2T1	AXIN2	A	417	V	A417V	Benign/Likely benign	0	2	18	32
MUT:AXIN2:Ala603Pro	PROT:Q9Y2T1	AXIN2	A	603	P	A603P	Benign/Likely benign	0	2	18	27
MUT:AXIN2:Ala761Asp	PROT:Q9Y2T1	AXIN2	A	761	D	A761D	Benign/Likely benign	0	3	18	31
MUT:AXIN2:Arg659Trp	PROT:Q9Y2T1	AXIN2	R	659	W	R659W	Benign/Likely benign	0	2	18	19
MUT:AXIN2:Asn412Ser	PROT:Q9Y2T1	AXIN2	N	412	S	N412S	Benign/Likely benign	0	3	18	37
MUT:AXIN2:Gln44Glu	PROT:Q9Y2T1	AXIN2	Q	44	E	Q44E	Likely benign	0	1	18	26
MUT:AXIN2:Glu66Gly	PROT:Q9Y2T1	AXIN2	E	66	G	E66G	Likely pathogenic	1	1	18	4
MUT:AXIN2:Gly502Ser	PROT:Q9Y2T1	AXIN2	G	502	S	G502S	Likely benign	0	1	18	9
MUT:AXIN2:His540Arg	PROT:Q9Y2T1	AXIN2	H	540	R	H540R	Likely benign	0	1	18	12
MUT:AXIN2:Ile821Val	PROT:Q9Y2T1	AXIN2	I	821	V	I821V	Likely benign	0	1	18	15
MUT:AXIN2:Lys751Arg	PROT:Q9Y2T1	AXIN2	K	751	R	K751R	Likely benign	0	1	18	41
MUT:AXIN2:Pro50Ser	PROT:Q9Y2T1	AXIN2	P	50	S	P50S	Benign	0	2	18	20
MUT:AXIN2:Pro50Thr	PROT:Q9Y2T1	AXIN2	P	50	T	P50T	Likely benign	0	1	18	20
MUT:AXIN2:Pro525Ala	PROT:Q9Y2T1	AXIN2	P	525	A	P525A	Benign/Likely benign	0	3	18	3
MUT:AXIN2:Pro744Ser	PROT:Q9Y2T1	AXIN2	P	744	S	P744S	Likely benign	0	1	18	48
MUT:AXIN2:Ser547Arg	PROT:Q9Y2T1	AXIN2	S	547	R	S547R	Likely benign	0	1	18	19
MUT:AXIN2:Ser651Leu	PROT:Q9Y2T1	AXIN2	S	651	L	S651L	Benign/Likely benign	0	3	18	11
MUT:AXIN2:Ser738Phe	PROT:Q9Y2T1	AXIN2	S	738	F	S738F	Benign/Likely benign	0	3	18	54
MUT:AXIN2:Ser84Tyr	PROT:Q9Y2T1	AXIN2	S	84	Y	S84Y	Likely benign	0	1	18	11
MUT:AXIN2:Thr246Ile	PROT:Q9Y2T1	AXIN2	T	246	I	T246I	Likely benign	0	1	18	0
MUT:AXIN2:Thr266Ser	PROT:Q9Y2T1	AXIN2	T	266	S	T266S	Likely benign	0	1	18	20
MUT:AXIN2:Thr410Ser	PROT:Q9Y2T1	AXIN2	T	410	S	T410S	Likely benign	0	1	18	39
MUT:AXIN2:Thr79Ala	PROT:Q9Y2T1	AXIN2	T	79	A	T79A	Likely benign	0	1	18	6
MUT:AXIN2:Val105Gly	PROT:Q9Y2T1	AXIN2	V	105	G	V105G	Pathogenic	1	1	18	32
MUT:AXIN2:Val539Met	PROT:Q9Y2T1	AXIN2	V	539	M	V539M	Benign/Likely benign	0	2	18	11
MUT:AXL:Gly397Arg	PROT:P30530	AXL	G	397	R	G397R	Likely benign	0	1	24	94
MUT:AXL:Gly517Ser	PROT:P30530	AXL	G	517	S	G517S	Likely benign	0	2	24	2
MUT:AXL:Leu721Val	PROT:P30530	AXL	L	721	V	L721V	Likely pathogenic	1	1	24	7
MUT:B2M:Asp96Asn	PROT:P61769	B2M	D	96	N	D96N	Pathogenic	1	2	12	12
MUT:B3GALNT2:Arg292Pro	PROT:Q8NCR0	B3GALNT2	R	292	P	R292P	Pathogenic/Likely pathogenic	1	1	2	50
MUT:B3GALNT2:Arg454Thr	PROT:Q8NCR0	B3GALNT2	R	454	T	R454T	Benign	0	1	2	212
MUT:B3GALNT2:Asp327Asn	PROT:Q8NCR0	B3GALNT2	D	327	N	D327N	Pathogenic/Likely pathogenic	1	1	2	85
MUT:B3GALNT2:Glu133Lys	PROT:Q8NCR0	B3GALNT2	E	133	K	E133K	Benign/Likely benign	0	2	2	107
MUT:B3GALNT2:Ile297Thr	PROT:Q8NCR0	B3GALNT2	I	297	T	I297T	Likely benign	0	1	2	55
MUT:B3GALNT2:Lys178Arg	PROT:Q8NCR0	B3GALNT2	K	178	R	K178R	Likely benign	0	1	2	62
MUT:B3GALNT2:Tyr51Cys	PROT:Q8NCR0	B3GALNT2	Y	51	C	Y51C	Benign	0	1	2	189
MUT:B3GALNT2:Val252Gly	PROT:Q8NCR0	B3GALNT2	V	252	G	V252G	Pathogenic/Likely pathogenic	1	1	2	10
MUT:B3GALT6:Arg256Trp	PROT:Q96L58	B3GALT6	R	256	W	R256W	Pathogenic/Likely pathogenic	1	1	1	191
MUT:B3GALT6:Asp156Asn	PROT:Q96L58	B3GALT6	D	156	N	D156N	Pathogenic	1	1	1	91
MUT:B3GALT6:Asp207His	PROT:Q96L58	B3GALT6	D	207	H	D207H	Pathogenic	1	2	1	142
MUT:B3GALT6:Cys206Trp	PROT:Q96L58	B3GALT6	C	206	W	C206W	Pathogenic	1	1	1	141
MUT:B3GALT6:Cys300Ser	PROT:Q96L58	B3GALT6	C	300	S	C300S	Pathogenic	1	1	1	235
MUT:B3GALT6:Gly217Ser	PROT:Q96L58	B3GALT6	G	217	S	G217S	Pathogenic	1	1	1	152
MUT:B3GALT6:Leu153Ile	PROT:Q96L58	B3GALT6	L	153	I	L153I	Benign/Likely benign	0	1	1	88
MUT:B3GALT6:Met1Arg	PROT:Q96L58	B3GALT6	M	1	R	M1R	Likely pathogenic	1	1	1	64
MUT:B3GALT6:Met1Leu	PROT:Q96L58	B3GALT6	M	1	L	M1L	Pathogenic	1	1	1	64
MUT:B3GALT6:Met1Thr	PROT:Q96L58	B3GALT6	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	1	64
MUT:B3GALT6:Met1Val	PROT:Q96L58	B3GALT6	M	1	V	M1V	Pathogenic/Likely pathogenic	1	3	1	64
MUT:B3GALT6:Phe186Leu	PROT:Q96L58	B3GALT6	F	186	L	F186L	Pathogenic	1	3	1	121
MUT:B3GALT6:Pro67Leu	PROT:Q96L58	B3GALT6	P	67	L	P67L	Pathogenic	1	1	1	2
MUT:B3GALT6:Ser159Tyr	PROT:Q96L58	B3GALT6	S	159	Y	S159Y	Pathogenic	1	1	1	94
MUT:B3GALT6:Ser309Thr	PROT:Q96L58	B3GALT6	S	309	T	S309T	Pathogenic/Likely pathogenic	1	1	1	244
MUT:B3GALT6:Ser65Gly	PROT:Q96L58	B3GALT6	S	65	G	S65G	Pathogenic	1	1	1	0
MUT:B3GLCT:Asp150Glu	PROT:Q6Y288	B3GLCT	D	150	E	D150E	Benign/Likely benign	0	1	1	331
MUT:B3GLCT:Glu370Lys	PROT:Q6Y288	B3GLCT	E	370	K	E370K	Benign	0	1	1	111
MUT:B3GLCT:Gly369Ser	PROT:Q6Y288	B3GLCT	G	369	S	G369S	Benign/Likely benign	0	13	1	112
MUT:B3GLCT:Gly393Glu	PROT:Q6Y288	B3GLCT	G	393	E	G393E	Pathogenic	1	1	1	88
MUT:B3GLCT:Leu440Val	PROT:Q6Y288	B3GLCT	L	440	V	L440V	Likely benign	0	1	1	41
MUT:B3GLCT:Lys267Glu	PROT:Q6Y288	B3GLCT	K	267	E	K267E	Likely benign	0	1	1	214
MUT:B3GLCT:Ser193Asn	PROT:Q6Y288	B3GLCT	S	193	N	S193N	Likely pathogenic	1	1	1	288
MUT:B3GLCT:Tyr301Phe	PROT:Q6Y288	B3GLCT	Y	301	F	Y301F	Benign	0	2	1	180
MUT:B3GLCT:Val245Met	PROT:Q6Y288	B3GLCT	V	245	M	V245M	Benign/Likely benign	0	1	1	236
MUT:B3GNT8:Arg261Gln	PROT:Q7Z7M8	B3GNT8	R	261	Q	R261Q	Likely benign	0	1	1	140
MUT:B4GALNT1:Ala124Asp	PROT:Q00973	B4GALNT1	A	124	D	A124D	Likely benign	0	1	1	20
MUT:B4GALNT1:Ala294Thr	PROT:Q00973	B4GALNT1	A	294	T	A294T	Benign/Likely benign	0	2	1	190
MUT:B4GALNT1:Ala441Glu	PROT:Q00973	B4GALNT1	A	441	E	A441E	Likely pathogenic	1	1	1	337
MUT:B4GALNT1:Ala516Val	PROT:Q00973	B4GALNT1	A	516	V	A516V	Benign	0	1	1	412
MUT:B4GALNT1:Arg319Ser	PROT:Q00973	B4GALNT1	R	319	S	R319S	Likely benign	0	1	1	215
MUT:B4GALNT1:Arg472Pro	PROT:Q00973	B4GALNT1	R	472	P	R472P	Pathogenic	1	1	1	368
MUT:B4GALNT1:Arg505Cys	PROT:Q00973	B4GALNT1	R	505	C	R505C	Pathogenic/Likely pathogenic	1	2	1	401
MUT:B4GALNT1:Arg505His	PROT:Q00973	B4GALNT1	R	505	H	R505H	Pathogenic/Likely pathogenic	1	2	1	401
MUT:B4GALNT1:Asp433Ala	PROT:Q00973	B4GALNT1	D	433	A	D433A	Pathogenic/Likely pathogenic	1	1	1	329
MUT:B4GALNT1:Glu243Lys	PROT:Q00973	B4GALNT1	E	243	K	E243K	Likely benign	0	1	1	139
MUT:B4GALNT1:Gly172Arg	PROT:Q00973	B4GALNT1	G	172	R	G172R	Benign	0	1	1	68
MUT:B4GALNT1:Gly265Arg	PROT:Q00973	B4GALNT1	G	265	R	G265R	Benign/Likely benign	0	3	1	161
MUT:B4GALNT1:Leu35Val	PROT:Q00973	B4GALNT1	L	35	V	L35V	Benign	0	1	1	69
MUT:B4GALNT3:Gly887Ala	PROT:Q6L9W6	B4GALNT3	G	887	A	G887A	Likely benign	0	6	2	59
MUT:B4GALNT4:Asn430Ser	PROT:Q76KP1	B4GALNT4	N	430	S	N430S	Benign	0	5	2	191
MUT:B9D1:Ala177Val	PROT:Q9UPM9	B9D1	A	177	V	A177V	Likely benign	0	1	1	66
MUT:B9D1:Ala44Ser	PROT:Q9UPM9	B9D1	A	44	S	A44S	Likely benign	0	1	1	67
MUT:B9D1:Arg114Gln	PROT:Q9UPM9	B9D1	R	114	Q	R114Q	Likely pathogenic	1	4	1	3
MUT:B9D1:Arg156Trp	PROT:Q9UPM9	B9D1	R	156	W	R156W	Pathogenic/Likely pathogenic	1	2	1	45
MUT:B9D1:Arg61Trp	PROT:Q9UPM9	B9D1	R	61	W	R61W	Benign/Likely benign	0	1	1	50
MUT:BAAT:Ala119Thr	PROT:Q14032	BAAT	A	119	T	A119T	Likely benign	0	1	4	6
MUT:BAAT:Arg201His	PROT:Q14032	BAAT	R	201	H	R201H	Benign/Likely benign	0	1	4	76
MUT:BAAT:Arg201Pro	PROT:Q14032	BAAT	R	201	P	R201P	Benign	0	1	4	76
MUT:BAAT:Arg20Gln	PROT:Q14032	BAAT	R	20	Q	R20Q	Benign	0	2	4	105
MUT:BAAT:Asp69Val	PROT:Q14032	BAAT	D	69	V	D69V	Pathogenic	1	1	4	56
MUT:BAAT:Gly386Arg	PROT:Q14032	BAAT	G	386	R	G386R	Pathogenic	1	1	4	52
MUT:BAAT:Leu110Ser	PROT:Q14032	BAAT	L	110	S	L110S	Likely benign	0	1	4	15
MUT:BAAT:Lys117Arg	PROT:Q14032	BAAT	K	117	R	K117R	Benign	0	1	4	8
MUT:BAAT:Met76Val	PROT:Q14032	BAAT	M	76	V	M76V	Pathogenic	1	1	4	49
MUT:BAAT:Pro84Thr	PROT:Q14032	BAAT	P	84	T	P84T	Pathogenic	1	1	4	41
MUT:BAAT:Val137Ile	PROT:Q14032	BAAT	V	137	I	V137I	Benign/Likely benign	0	2	4	12
MUT:BAAT:Val304Ala	PROT:Q14032	BAAT	V	304	A	V304A	Benign	0	1	4	3
MUT:BACH2:Ala195Thr	PROT:Q9BYV9	BACH2	A	195	T	A195T	Benign/Likely benign	0	1	14	36
MUT:BACH2:Ala418Thr	PROT:Q9BYV9	BACH2	A	418	T	A418T	Benign	0	1	14	75
MUT:BACH2:Ala479Thr	PROT:Q9BYV9	BACH2	A	479	T	A479T	Benign/Likely benign	0	1	14	31
MUT:BACH2:Arg151Pro	PROT:Q9BYV9	BACH2	R	151	P	R151P	Likely benign	0	1	14	8
MUT:BACH2:Glu806Asp	PROT:Q9BYV9	BACH2	E	806	D	E806D	Likely benign	0	1	14	282
MUT:BACH2:Gly415Glu	PROT:Q9BYV9	BACH2	G	415	E	G415E	Likely benign	0	1	14	72
MUT:BACH2:Leu24Pro	PROT:Q9BYV9	BACH2	L	24	P	L24P	Pathogenic	1	1	14	16
MUT:BACH2:Ser255Arg	PROT:Q9BYV9	BACH2	S	255	R	S255R	Likely benign	0	1	14	39
MUT:BAG3:Arg258Trp	PROT:O95817	BAG3	R	258	W	R258W	Benign/Likely benign	0	4	48	6
MUT:BAG3:Arg71Gln	PROT:O95817	BAG3	R	71	Q	R71Q	Benign/Likely benign	0	17	48	11
MUT:BAG3:Asp300Asn	PROT:O95817	BAG3	D	300	N	D300N	Benign/Likely benign	0	1	48	9
MUT:BAG3:Cys151Arg	PROT:O95817	BAG3	C	151	R	C151R	Benign/Likely benign	0	2	48	2
MUT:BAG3:Glu455Lys	PROT:O95817	BAG3	E	455	K	E455K	Pathogenic	1	3	48	2
MUT:BAG3:His83Gln	PROT:O95817	BAG3	H	83	Q	H83Q	Benign/Likely benign	0	3	48	3
MUT:BAG3:Leu462Pro	PROT:O95817	BAG3	L	462	P	L462P	Likely pathogenic	1	1	48	3
MUT:BAG3:Pro209Gln	PROT:O95817	BAG3	P	209	Q	P209Q	Pathogenic	1	1	48	2
MUT:BAG3:Pro209Leu	PROT:O95817	BAG3	P	209	L	P209L	Pathogenic	1	2	48	2
MUT:BAG3:Pro209Ser	PROT:O95817	BAG3	P	209	S	P209S	Pathogenic/Likely pathogenic	1	2	48	2
MUT:BAG3:Pro380Ser	PROT:O95817	BAG3	P	380	S	P380S	Benign/Likely benign	0	3	48	1
MUT:BAG3:Pro407Leu	PROT:O95817	BAG3	P	407	L	P407L	Benign	0	2	48	1
MUT:BAG3:Pro470Ser	PROT:O95817	BAG3	P	470	S	P470S	Pathogenic	1	1	48	11
MUT:BAG3:Pro63Ala	PROT:O95817	BAG3	P	63	A	P63A	Benign/Likely benign	0	2	48	3
MUT:BAG3:Pro77Leu	PROT:O95817	BAG3	P	77	L	P77L	Benign/Likely benign	0	1	48	9
MUT:BAIAP2:Arg363His	PROT:Q9UQB8	BAIAP2	R	363	H	R363H	Pathogenic	1	1	47	3
MUT:BAIAP2:Glu189Val	PROT:Q9UQB8	BAIAP2	E	189	V	E189V	Pathogenic	1	1	47	1
MUT:BAIAP2:Pro342Ala	PROT:Q9UQB8	BAIAP2	P	342	A	P342A	Pathogenic	1	1	47	2
MUT:BAIAP2:Thr340Ala	PROT:Q9UQB8	BAIAP2	T	340	A	T340A	Pathogenic	1	1	47	0
MUT:BAIAP2:Thr340Ile	PROT:Q9UQB8	BAIAP2	T	340	I	T340I	Pathogenic	1	1	47	0
MUT:BAIAP2:Thr340Lys	PROT:Q9UQB8	BAIAP2	T	340	K	T340K	Pathogenic	1	1	47	0
MUT:BAIAP3:Ala855Pro	PROT:O94812	BAIAP3	A	855	P	A855P	Likely benign	0	1	1	740
MUT:BANK1:Trp40Cys	PROT:Q8NDB2	BANK1	W	40	C	W40C	Benign/Likely benign	0	1	3	28
MUT:BAZ1A:Arg1093Gln	PROT:Q9NRL2	BAZ1A	R	1093	Q	R1093Q	Pathogenic	1	1	45	70
MUT:BAZ1A:Asp1232Asn	PROT:Q9NRL2	BAZ1A	D	1232	N	D1232N	Likely benign	0	1	45	45
MUT:BAZ1A:Glu906Gly	PROT:Q9NRL2	BAZ1A	E	906	G	E906G	Likely benign	0	1	45	18
MUT:BBS12:Ala289Pro	PROT:Q6ZW61	BBS12	A	289	P	A289P	Likely pathogenic	1	3	4	85
MUT:BBS12:Arg368His	PROT:Q6ZW61	BBS12	R	368	H	R368H	Benign/Likely benign	0	2	4	6
MUT:BBS12:Arg386Gln	PROT:Q6ZW61	BBS12	R	386	Q	R386Q	Benign/Likely benign	0	3	4	12
MUT:BBS12:Arg484Lys	PROT:Q6ZW61	BBS12	R	484	K	R484K	Benign/Likely benign	0	3	4	17
MUT:BBS12:Asn461His	PROT:Q6ZW61	BBS12	N	461	H	N461H	Benign/Likely benign	0	3	4	40
MUT:BBS12:Asp166Gly	PROT:Q6ZW61	BBS12	D	166	G	D166G	Likely benign	0	1	4	208
MUT:BBS12:Asp467Asn	PROT:Q6ZW61	BBS12	D	467	N	D467N	Benign/Likely benign	0	3	4	34
MUT:BBS12:Cys123Arg	PROT:Q6ZW61	BBS12	C	123	R	C123R	Likely pathogenic	1	1	4	251
MUT:BBS12:Glu126Asp	PROT:Q6ZW61	BBS12	E	126	D	E126D	Benign/Likely benign	0	2	4	248
MUT:BBS12:Glu543Lys	PROT:Q6ZW61	BBS12	E	543	K	E543K	Pathogenic/Likely pathogenic	1	1	4	22
MUT:BBS12:Gly119Ser	PROT:Q6ZW61	BBS12	G	119	S	G119S	Benign/Likely benign	0	2	4	255
MUT:BBS12:Gly539Asp	PROT:Q6ZW61	BBS12	G	539	D	G539D	Pathogenic/Likely pathogenic	1	2	4	18
MUT:BBS12:Gly539Cys	PROT:Q6ZW61	BBS12	G	539	C	G539C	Likely pathogenic	1	1	4	18
MUT:BBS12:Gly539Val	PROT:Q6ZW61	BBS12	G	539	V	G539V	Likely pathogenic	1	1	4	18
MUT:BBS12:Gly540Val	PROT:Q6ZW61	BBS12	G	540	V	G540V	Pathogenic	1	2	4	19
MUT:BBS12:Gly84Arg	PROT:Q6ZW61	BBS12	G	84	R	G84R	Likely pathogenic	1	1	4	290
MUT:BBS12:Leu194Val	PROT:Q6ZW61	BBS12	L	194	V	L194V	Likely benign	0	1	4	180
MUT:BBS12:Leu530Pro	PROT:Q6ZW61	BBS12	L	530	P	L530P	Pathogenic	1	1	4	9
MUT:BBS12:Lys408Arg	PROT:Q6ZW61	BBS12	K	408	R	K408R	Likely pathogenic	1	1	4	34
MUT:BBS12:Met442Leu	PROT:Q6ZW61	BBS12	M	442	L	M442L	Likely benign	0	1	4	59
MUT:BBS12:Pro108Arg	PROT:Q6ZW61	BBS12	P	108	R	P108R	Pathogenic	1	1	4	266
MUT:BBS12:Ser429Thr	PROT:Q6ZW61	BBS12	S	429	T	S429T	Benign/Likely benign	0	3	4	55
MUT:BBS12:Ser616Asn	PROT:Q6ZW61	BBS12	S	616	N	S616N	Benign	0	3	4	39
MUT:BBS12:Thr501Met	PROT:Q6ZW61	BBS12	T	501	M	T501M	Pathogenic/Likely pathogenic	1	4	4	0
MUT:BBS12:Val246Ile	PROT:Q6ZW61	BBS12	V	246	I	V246I	Likely benign	0	1	4	128
MUT:BBS12:Val403Met	PROT:Q6ZW61	BBS12	V	403	M	V403M	Benign	0	3	4	29
MUT:BBS12:Val409Met	PROT:Q6ZW61	BBS12	V	409	M	V409M	Likely pathogenic	1	1	4	35
MUT:BBS2:Ala504Val	PROT:Q9BXC9	BBS2	A	504	V	A504V	Benign/Likely benign	0	3	15	95
MUT:BBS2:Arg216Pro	PROT:Q9BXC9	BBS2	R	216	P	R216P	Likely pathogenic	1	1	15	15
MUT:BBS2:Arg315Gln	PROT:Q9BXC9	BBS2	R	315	Q	R315Q	Pathogenic/Likely pathogenic	1	3	15	30
MUT:BBS2:Arg315Trp	PROT:Q9BXC9	BBS2	R	315	W	R315W	Pathogenic/Likely pathogenic	1	6	15	30
MUT:BBS2:Arg632Pro	PROT:Q9BXC9	BBS2	R	632	P	R632P	Pathogenic/Likely pathogenic	1	7	15	6
MUT:BBS2:Asn354Lys	PROT:Q9BXC9	BBS2	N	354	K	N354K	Pathogenic/Likely pathogenic	1	1	15	6
MUT:BBS2:Asp104Ala	PROT:Q9BXC9	BBS2	D	104	A	D104A	Pathogenic	1	6	15	65
MUT:BBS2:Asp170Gly	PROT:Q9BXC9	BBS2	D	170	G	D170G	Likely pathogenic	1	1	15	61
MUT:BBS2:Asp174Glu	PROT:Q9BXC9	BBS2	D	174	E	D174E	Likely pathogenic	1	2	15	57
MUT:BBS2:Asp90Gly	PROT:Q9BXC9	BBS2	D	90	G	D90G	Likely pathogenic	1	1	15	51
MUT:BBS2:Cys307Arg	PROT:Q9BXC9	BBS2	C	307	R	C307R	Likely pathogenic	1	1	15	38
MUT:BBS2:Gln73Glu	PROT:Q9BXC9	BBS2	Q	73	E	Q73E	Likely benign	0	1	15	34
MUT:BBS2:Gly139Val	PROT:Q9BXC9	BBS2	G	139	V	G139V	Pathogenic	1	1	15	92
MUT:BBS2:Gly81Cys	PROT:Q9BXC9	BBS2	G	81	C	G81C	Pathogenic/Likely pathogenic	1	3	15	42
MUT:BBS2:Ile205Val	PROT:Q9BXC9	BBS2	I	205	V	I205V	Likely benign	0	1	15	26
MUT:BBS2:Ile289Val	PROT:Q9BXC9	BBS2	I	289	V	I289V	Benign	0	7	15	21
MUT:BBS2:Leu125Arg	PROT:Q9BXC9	BBS2	L	125	R	L125R	Likely pathogenic	1	1	15	86
MUT:BBS2:Leu8Pro	PROT:Q9BXC9	BBS2	L	8	P	L8P	Likely pathogenic	1	1	15	1
MUT:BBS2:Lys39Asn	PROT:Q9BXC9	BBS2	K	39	N	K39N	Likely benign	0	1	15	0
MUT:BBS2:Phe217Cys	PROT:Q9BXC9	BBS2	F	217	C	F217C	Likely pathogenic	1	1	15	14
MUT:BBS2:Pro134Arg	PROT:Q9BXC9	BBS2	P	134	R	P134R	Pathogenic/Likely pathogenic	1	8	15	95
MUT:BBS2:Ser70Asn	PROT:Q9BXC9	BBS2	S	70	N	S70N	Benign	0	5	15	31
MUT:BBS2:Thr27Pro	PROT:Q9BXC9	BBS2	T	27	P	T27P	Pathogenic/Likely pathogenic	1	2	15	12
MUT:BBS2:Thr79Pro	PROT:Q9BXC9	BBS2	T	79	P	T79P	Pathogenic/Likely pathogenic	1	2	15	40
MUT:BBS2:Tyr317Cys	PROT:Q9BXC9	BBS2	Y	317	C	Y317C	Pathogenic/Likely pathogenic	1	3	15	28
MUT:BBS2:Val269Gly	PROT:Q9BXC9	BBS2	V	269	G	V269G	Likely pathogenic	1	1	15	1
MUT:BBS2:Val510Phe	PROT:Q9BXC9	BBS2	V	510	F	V510F	Likely pathogenic	1	1	15	89
MUT:BBS2:Val75Gly	PROT:Q9BXC9	BBS2	V	75	G	V75G	Pathogenic/Likely pathogenic	1	3	15	36
MUT:BBS7:Ala113Asp	PROT:Q8IWZ6	BBS7	A	113	D	A113D	Pathogenic	1	1	14	48
MUT:BBS7:Gln293Pro	PROT:Q8IWZ6	BBS7	Q	293	P	Q293P	Pathogenic/Likely pathogenic	1	2	14	40
MUT:BBS7:Gly240Val	PROT:Q8IWZ6	BBS7	G	240	V	G240V	Pathogenic	1	2	14	93
MUT:BBS7:Gly294Arg	PROT:Q8IWZ6	BBS7	G	294	R	G294R	Pathogenic	1	1	14	39
MUT:BBS7:Gly42Glu	PROT:Q8IWZ6	BBS7	G	42	E	G42E	Likely pathogenic	1	1	14	9
MUT:BBS7:Gly63Arg	PROT:Q8IWZ6	BBS7	G	63	R	G63R	Pathogenic/Likely pathogenic	1	2	14	2
MUT:BBS7:His323Arg	PROT:Q8IWZ6	BBS7	H	323	R	H323R	Pathogenic/Likely pathogenic	1	4	14	10
MUT:BBS7:Leu23Arg	PROT:Q8IWZ6	BBS7	L	23	R	L23R	Pathogenic	1	2	14	1
MUT:BBS7:Leu317Val	PROT:Q8IWZ6	BBS7	L	317	V	L317V	Likely pathogenic	1	2	14	16
MUT:BBS7:Met45Thr	PROT:Q8IWZ6	BBS7	M	45	T	M45T	Likely benign	0	1	14	6
MUT:BBS7:Thr211Ile	PROT:Q8IWZ6	BBS7	T	211	I	T211I	Pathogenic	1	4	14	122
MUT:BBS7:Trp230Arg	PROT:Q8IWZ6	BBS7	W	230	R	W230R	Pathogenic/Likely pathogenic	1	1	14	103
MUT:BCAM:Arg77His	PROT:P50895	BCAM	R	77	H	R77H	Benign	0	1	12	128
MUT:BCAM:Lys451Gln	PROT:P50895	BCAM	K	451	Q	K451Q	Likely benign	0	1	12	91
MUT:BCAM:Met204Lys	PROT:P50895	BCAM	M	204	K	M204K	Likely benign	0	1	12	1
MUT:BCAM:Pro39Leu	PROT:P50895	BCAM	P	39	L	P39L	Likely benign	0	1	12	166
MUT:BCAM:Pro589Leu	PROT:P50895	BCAM	P	589	L	P589L	Likely benign	0	1	12	4
MUT:BCAM:Thr539Ala	PROT:P50895	BCAM	T	539	A	T539A	Benign	0	2	12	46
MUT:BCAS3:Asp302Asn	PROT:Q9H6U6	BCAS3	D	302	N	D302N	Likely benign	0	1	22	87
MUT:BCAS3:Gly562Arg	PROT:Q9H6U6	BCAS3	G	562	R	G562R	Pathogenic/Likely pathogenic	1	2	22	8
MUT:BCAS3:Gly809Arg	PROT:Q9H6U6	BCAS3	G	809	R	G809R	Likely pathogenic	1	1	22	8
MUT:BCAS3:Gly829Arg	PROT:Q9H6U6	BCAS3	G	829	R	G829R	Likely benign	0	1	22	21
MUT:BCAS3:Ile233Val	PROT:Q9H6U6	BCAS3	I	233	V	I233V	Likely benign	0	1	22	18
MUT:BCAS3:Pro552Leu	PROT:Q9H6U6	BCAS3	P	552	L	P552L	Pathogenic/Likely pathogenic	1	2	22	18
MUT:BCAS3:Pro913Leu	PROT:Q9H6U6	BCAS3	P	913	L	P913L	Benign	0	1	22	3
MUT:BCAT1:Glu348Lys	PROT:P54687	BCAT1	E	348	K	E348K	Likely benign	0	1	11	2
MUT:BCAT1:Thr59Met	PROT:P54687	BCAT1	T	59	M	T59M	Likely benign	0	1	11	31
MUT:BCDIN3D:Asp8Gly	PROT:Q7Z5W3	BCDIN3D	D	8	G	D8G	Benign	0	1	2	109
MUT:BCKDK:Ala24Thr	PROT:O14874	BCKDK	A	24	T	A24T	Likely benign	0	1	12	7
MUT:BCKDK:Ala61Ser	PROT:O14874	BCKDK	A	61	S	A61S	Benign/Likely benign	0	1	12	13
MUT:BCKDK:Arg224Pro	PROT:O14874	BCKDK	R	224	P	R224P	Pathogenic	1	1	12	9
MUT:BCKDK:Arg312Ser	PROT:O14874	BCKDK	R	312	S	R312S	Likely pathogenic	1	1	12	44
MUT:BCKDK:Arg327Trp	PROT:O14874	BCKDK	R	327	W	R327W	Likely pathogenic	1	1	12	29
MUT:BCL10:Ala5Ser	PROT:O95999	BCL10	A	5	S	A5S	Benign/Likely benign	0	2	14	12
MUT:BCL10:Arg58Gly	PROT:O95999	BCL10	R	58	G	R58G	Pathogenic	1	1	14	5
MUT:BCL10:Gly213Glu	PROT:O95999	BCL10	G	213	E	G213E	Benign/Likely benign	0	1	14	18
MUT:BCL10:Thr163Met	PROT:O95999	BCL10	T	163	M	T163M	Pathogenic	1	1	14	17
MUT:BCL11B:Arg841His	PROT:Q9C0K0	BCL11B	R	841	H	R841H	Likely pathogenic	1	1	62	3
MUT:BCL11B:Asn386Lys	PROT:Q9C0K0	BCL11B	N	386	K	N386K	Likely pathogenic	1	1	62	5
MUT:BCL11B:Asn441Lys	PROT:Q9C0K0	BCL11B	N	441	K	N441K	Pathogenic	1	2	62	7
MUT:BCL11B:Asn807Lys	PROT:Q9C0K0	BCL11B	N	807	K	N807K	Pathogenic/Likely pathogenic	1	2	62	1
MUT:BCL11B:Cys859Trp	PROT:Q9C0K0	BCL11B	C	859	W	C859W	Likely pathogenic	1	1	62	8
MUT:BCL11B:Glu333Lys	PROT:Q9C0K0	BCL11B	E	333	K	E333K	Likely pathogenic	1	1	62	2
MUT:BCL11B:Lys838Arg	PROT:Q9C0K0	BCL11B	K	838	R	K838R	Likely pathogenic	1	1	62	0
MUT:BCL11B:Met1Thr	PROT:Q9C0K0	BCL11B	M	1	T	M1T	Likely pathogenic	1	1	62	83
MUT:BCL11B:Pro98Leu	PROT:Q9C0K0	BCL11B	P	98	L	P98L	Benign	0	1	62	1
MUT:BCL11B:Ser375Cys	PROT:Q9C0K0	BCL11B	S	375	C	S375C	Likely benign	0	1	62	6
MUT:BCL11B:Thr131Met	PROT:Q9C0K0	BCL11B	T	131	M	T131M	Likely benign	0	1	62	1
MUT:BCL9:Pro113Ser	PROT:O00512	BCL9	P	113	S	P113S	Likely benign	0	1	38	6
MUT:BCO1:Ala379Val	PROT:Q9HAY6	BCO1	A	379	V	A379V	Benign	0	2	1	115
MUT:BCO1:Arg161Cys	PROT:Q9HAY6	BCO1	R	161	C	R161C	Likely benign	0	1	1	103
MUT:BCO1:Gly472Ala	PROT:Q9HAY6	BCO1	G	472	A	G472A	Benign	0	9	1	208
MUT:BCO1:Ile324Thr	PROT:Q9HAY6	BCO1	I	324	T	I324T	Likely benign	0	1	1	60
MUT:BCORL1:Arg1265Cys	PROT:Q5H9F3	BCORL1	R	1265	C	R1265C	Likely pathogenic	1	1	22	49
MUT:BCORL1:Arg1273Gln	PROT:Q5H9F3	BCORL1	R	1273	Q	R1273Q	Likely benign	0	1	22	41
MUT:BCORL1:Asn1174Ser	PROT:Q5H9F3	BCORL1	N	1174	S	N1174S	Likely benign	0	1	22	12
MUT:BCORL1:Asn1382Lys	PROT:Q5H9F3	BCORL1	N	1382	K	N1382K	Likely benign	0	1	22	68
MUT:BCORL1:Asn920Ser	PROT:Q5H9F3	BCORL1	N	920	S	N920S	Likely benign	0	2	22	96
MUT:BCORL1:Gly1087Arg	PROT:Q5H9F3	BCORL1	G	1087	R	G1087R	Likely benign	0	1	22	45
MUT:BCORL1:Gly1391Arg	PROT:Q5H9F3	BCORL1	G	1391	R	G1391R	Pathogenic	1	1	22	77
MUT:BCORL1:Gly209Ser	PROT:Q5H9F3	BCORL1	G	209	S	G209S	Benign	0	7	22	54
MUT:BCORL1:Gly533Ser	PROT:Q5H9F3	BCORL1	G	533	S	G533S	Likely benign	0	1	22	37
MUT:BCORL1:Gly850Arg	PROT:Q5H9F3	BCORL1	G	850	R	G850R	Likely benign	0	1	22	166
MUT:BCORL1:Gly883Glu	PROT:Q5H9F3	BCORL1	G	883	E	G883E	Likely benign	0	1	22	133
MUT:BCORL1:Pro32Leu	PROT:Q5H9F3	BCORL1	P	32	L	P32L	Likely pathogenic	1	1	22	16
MUT:BCORL1:Val872Gly	PROT:Q5H9F3	BCORL1	V	872	G	V872G	Pathogenic	1	1	22	144
MUT:BDH1:Arg314His	PROT:Q02338	BDH1	R	314	H	R314H	Likely benign	0	1	5	66
MUT:BDH1:Arg43Cys	PROT:Q02338	BDH1	R	43	C	R43C	Benign	0	1	5	54
MUT:BDH1:Arg44Gln	PROT:Q02338	BDH1	R	44	Q	R44Q	Benign	0	4	5	53
MUT:BDH1:Met138Ile	PROT:Q02338	BDH1	M	138	I	M138I	Benign	0	1	5	41
MUT:BDH1:Val110Ile	PROT:Q02338	BDH1	V	110	I	V110I	Likely benign	0	1	5	13
MUT:BDH1:Val215Ile	PROT:Q02338	BDH1	V	215	I	V215I	Benign	0	1	5	3
MUT:BDNF:Cys186Tyr	PROT:P23560	BDNF	C	186	Y	C186Y	Likely pathogenic	1	1	2	12
MUT:BDNF:Gln75Glu	PROT:P23560	BDNF	Q	75	E	Q75E	Likely benign	0	1	2	10
MUT:BDNF:Lys13Asn	PROT:P23560	BDNF	K	13	N	K13N	Likely benign	0	1	2	72
MUT:BDNF:Val66Met	PROT:P23560	BDNF	V	66	M	V66M	Benign	0	1	2	19
MUT:BDP1:Ala1280Gly	PROT:A6H8Y1	BDP1	A	1280	G	A1280G	Benign	0	1	29	149
MUT:BDP1:Ala1685Pro	PROT:A6H8Y1	BDP1	A	1685	P	A1685P	Likely benign	0	1	29	9
MUT:BDP1:Arg1850Trp	PROT:A6H8Y1	BDP1	R	1850	W	R1850W	Benign/Likely benign	0	1	29	156
MUT:BDP1:Asn2555Ser	PROT:A6H8Y1	BDP1	N	2555	S	N2555S	Benign	0	1	29	104
MUT:BDP1:Asp38Glu	PROT:A6H8Y1	BDP1	D	38	E	D38E	Benign	0	1	29	30
MUT:BDP1:Gln1676Glu	PROT:A6H8Y1	BDP1	Q	1676	E	Q1676E	Benign	0	12	29	18
MUT:BDP1:Glu1201Ala	PROT:A6H8Y1	BDP1	E	1201	A	E1201A	Likely benign	0	1	29	70
MUT:BDP1:Glu1266Ala	PROT:A6H8Y1	BDP1	E	1266	A	E1266A	Benign	0	1	29	135
MUT:BDP1:Gly1122Arg	PROT:A6H8Y1	BDP1	G	1122	R	G1122R	Likely benign	0	1	29	6
MUT:BDP1:Gly1180Ser	PROT:A6H8Y1	BDP1	G	1180	S	G1180S	Benign	0	1	29	49
MUT:BDP1:Ile1264Met	PROT:A6H8Y1	BDP1	I	1264	M	I1264M	Benign	0	1	29	133
MUT:BDP1:Ile1355Met	PROT:A6H8Y1	BDP1	I	1355	M	I1355M	Likely benign	0	1	29	224
MUT:BDP1:Ile2013Leu	PROT:A6H8Y1	BDP1	I	2013	L	I2013L	Benign	0	1	29	183
MUT:BDP1:Ile726Leu	PROT:A6H8Y1	BDP1	I	726	L	I726L	Benign/Likely benign	0	4	29	130
MUT:BDP1:Ile837Ser	PROT:A6H8Y1	BDP1	I	837	S	I837S	Benign	0	1	29	19
MUT:BDP1:Lys1469Glu	PROT:A6H8Y1	BDP1	K	1469	E	K1469E	Benign	0	1	29	144
MUT:BDP1:Lys737Arg	PROT:A6H8Y1	BDP1	K	737	R	K737R	Likely benign	0	1	29	119
MUT:BDP1:Phe1244Ile	PROT:A6H8Y1	BDP1	F	1244	I	F1244I	Benign	0	1	29	113
MUT:BDP1:Phe1557Leu	PROT:A6H8Y1	BDP1	F	1557	L	F1557L	Likely benign	0	1	29	56
MUT:BDP1:Ser1071Thr	PROT:A6H8Y1	BDP1	S	1071	T	S1071T	Benign	0	1	29	45
MUT:BDP1:Ser2124Gly	PROT:A6H8Y1	BDP1	S	2124	G	S2124G	Likely benign	0	1	29	72
MUT:BDP1:Thr2432Ala	PROT:A6H8Y1	BDP1	T	2432	A	T2432A	Likely benign	0	1	29	19
MUT:BDP1:Val1347Met	PROT:A6H8Y1	BDP1	V	1347	M	V1347M	Benign	0	1	29	216
MUT:BDP1:Val572Phe	PROT:A6H8Y1	BDP1	V	572	F	V572F	Likely pathogenic	1	1	29	218
MUT:BDP1:Val778Met	PROT:A6H8Y1	BDP1	V	778	M	V778M	Benign	0	1	29	78
MUT:BEST1:Ala10Thr	PROT:O76090	BEST1	A	10	T	A10T	Pathogenic	1	1	6	6
MUT:BEST1:Ala10Val	PROT:O76090	BEST1	A	10	V	A10V	Pathogenic	1	1	6	6
MUT:BEST1:Ala146Lys	PROT:O76090	BEST1	A	146	K	A146K	Pathogenic/Likely pathogenic	1	1	6	2
MUT:BEST1:Ala195Val	PROT:O76090	BEST1	A	195	V	A195V	Pathogenic/Likely pathogenic	1	10	6	32
MUT:BEST1:Ala226Thr	PROT:O76090	BEST1	A	226	T	A226T	Likely pathogenic	1	1	6	1
MUT:BEST1:Ala243Thr	PROT:O76090	BEST1	A	243	T	A243T	Pathogenic	1	1	6	16
MUT:BEST1:Ala243Val	PROT:O76090	BEST1	A	243	V	A243V	Pathogenic/Likely pathogenic	1	6	6	16
MUT:BEST1:Arg105Ser	PROT:O76090	BEST1	R	105	S	R105S	Pathogenic/Likely pathogenic	1	1	6	26
MUT:BEST1:Arg122Pro	PROT:O76090	BEST1	R	122	P	R122P	Likely pathogenic	1	1	6	9
MUT:BEST1:Arg122Trp	PROT:O76090	BEST1	R	122	W	R122W	Likely pathogenic	1	1	6	9
MUT:BEST1:Arg130Ser	PROT:O76090	BEST1	R	130	S	R130S	Pathogenic/Likely pathogenic	1	2	6	1
MUT:BEST1:Arg13Cys	PROT:O76090	BEST1	R	13	C	R13C	Pathogenic/Likely pathogenic	1	3	6	3
MUT:BEST1:Arg13Gly	PROT:O76090	BEST1	R	13	G	R13G	Pathogenic/Likely pathogenic	1	1	6	3
MUT:BEST1:Arg13His	PROT:O76090	BEST1	R	13	H	R13H	Pathogenic/Likely pathogenic	1	2	6	3
MUT:BEST1:Arg141His	PROT:O76090	BEST1	R	141	H	R141H	Pathogenic/Likely pathogenic	1	6	6	7
MUT:BEST1:Arg141Ser	PROT:O76090	BEST1	R	141	S	R141S	Pathogenic/Likely pathogenic	1	1	6	7
MUT:BEST1:Arg202Trp	PROT:O76090	BEST1	R	202	W	R202W	Pathogenic/Likely pathogenic	1	2	6	25
MUT:BEST1:Arg218Cys	PROT:O76090	BEST1	R	218	C	R218C	Pathogenic/Likely pathogenic	1	3	6	9
MUT:BEST1:Arg218His	PROT:O76090	BEST1	R	218	H	R218H	Pathogenic/Likely pathogenic	1	3	6	9
MUT:BEST1:Arg255Trp	PROT:O76090	BEST1	R	255	W	R255W	Pathogenic/Likely pathogenic	1	3	6	28
MUT:BEST1:Arg25Gln	PROT:O76090	BEST1	R	25	Q	R25Q	Pathogenic/Likely pathogenic	1	3	6	9
MUT:BEST1:Arg25Trp	PROT:O76090	BEST1	R	25	W	R25W	Pathogenic/Likely pathogenic	1	2	6	9
MUT:BEST1:Arg47His	PROT:O76090	BEST1	R	47	H	R47H	Pathogenic/Likely pathogenic	1	2	6	31
MUT:BEST1:Arg92Leu	PROT:O76090	BEST1	R	92	L	R92L	Likely pathogenic	1	1	6	39
MUT:BEST1:Arg92Ser	PROT:O76090	BEST1	R	92	S	R92S	Pathogenic/Likely pathogenic	1	1	6	39
MUT:BEST1:Asn11Lys	PROT:O76090	BEST1	N	11	K	N11K	Likely pathogenic	1	1	6	5
MUT:BEST1:Asn296Lys	PROT:O76090	BEST1	N	296	K	N296K	Likely pathogenic	1	2	6	62
MUT:BEST1:Asn296Ser	PROT:O76090	BEST1	N	296	S	N296S	Pathogenic	1	3	6	62
MUT:BEST1:Asn95Tyr	PROT:O76090	BEST1	N	95	Y	N95Y	Likely pathogenic	1	1	6	36
MUT:BEST1:Asn99His	PROT:O76090	BEST1	N	99	H	N99H	Likely pathogenic	1	1	6	32
MUT:BEST1:Asn99Lys	PROT:O76090	BEST1	N	99	K	N99K	Pathogenic	1	1	6	32
MUT:BEST1:Asp118His	PROT:O76090	BEST1	D	118	H	D118H	Likely pathogenic	1	1	6	13
MUT:BEST1:Asp228Glu	PROT:O76090	BEST1	D	228	E	D228E	Likely pathogenic	1	3	6	1
MUT:BEST1:Asp228His	PROT:O76090	BEST1	D	228	H	D228H	Likely pathogenic	1	1	6	1
MUT:BEST1:Asp301Asn	PROT:O76090	BEST1	D	301	N	D301N	Pathogenic	1	1	6	57
MUT:BEST1:Asp301Glu	PROT:O76090	BEST1	D	301	E	D301E	Pathogenic	1	1	6	57
MUT:BEST1:Asp301His	PROT:O76090	BEST1	D	301	H	D301H	Likely pathogenic	1	1	6	57
MUT:BEST1:Asp302Ala	PROT:O76090	BEST1	D	302	A	D302A	Pathogenic	1	2	6	56
MUT:BEST1:Asp302Asn	PROT:O76090	BEST1	D	302	N	D302N	Pathogenic	1	1	6	56
MUT:BEST1:Asp302Glu	PROT:O76090	BEST1	D	302	E	D302E	Likely pathogenic	1	2	6	56
MUT:BEST1:Asp302His	PROT:O76090	BEST1	D	302	H	D302H	Pathogenic	1	1	6	56
MUT:BEST1:Asp302Val	PROT:O76090	BEST1	D	302	V	D302V	Pathogenic	1	1	6	56
MUT:BEST1:Asp303Gly	PROT:O76090	BEST1	D	303	G	D303G	Pathogenic	1	1	6	55
MUT:BEST1:Asp303Tyr	PROT:O76090	BEST1	D	303	Y	D303Y	Likely pathogenic	1	1	6	55
MUT:BEST1:Asp303Val	PROT:O76090	BEST1	D	303	V	D303V	Pathogenic	1	2	6	55
MUT:BEST1:Asp304Asn	PROT:O76090	BEST1	D	304	N	D304N	Pathogenic	1	1	6	54
MUT:BEST1:Asp312Asn	PROT:O76090	BEST1	D	312	N	D312N	Pathogenic/Likely pathogenic	1	1	6	46
MUT:BEST1:Asp312Glu	PROT:O76090	BEST1	D	312	E	D312E	Pathogenic	1	1	6	46
MUT:BEST1:Gln238Arg	PROT:O76090	BEST1	Q	238	R	Q238R	Pathogenic/Likely pathogenic	1	1	6	11
MUT:BEST1:Gln293His	PROT:O76090	BEST1	Q	293	H	Q293H	Pathogenic/Likely pathogenic	1	1	6	65
MUT:BEST1:Gln293Lys	PROT:O76090	BEST1	Q	293	K	Q293K	Pathogenic	1	1	6	65
MUT:BEST1:Gln58Glu	PROT:O76090	BEST1	Q	58	E	Q58E	Likely pathogenic	1	1	6	42
MUT:BEST1:Gln58Leu	PROT:O76090	BEST1	Q	58	L	Q58L	Likely pathogenic	1	1	6	42
MUT:BEST1:Gln96Arg	PROT:O76090	BEST1	Q	96	R	Q96R	Pathogenic	1	3	6	35
MUT:BEST1:Gln96Glu	PROT:O76090	BEST1	Q	96	E	Q96E	Pathogenic/Likely pathogenic	1	1	6	35
MUT:BEST1:Glu213Gly	PROT:O76090	BEST1	E	213	G	E213G	Pathogenic/Likely pathogenic	1	2	6	14
MUT:BEST1:Glu292Gln	PROT:O76090	BEST1	E	292	Q	E292Q	Likely pathogenic	1	1	6	65
MUT:BEST1:Glu292Lys	PROT:O76090	BEST1	E	292	K	E292K	Pathogenic/Likely pathogenic	1	2	6	65
MUT:BEST1:Glu300Asp	PROT:O76090	BEST1	E	300	D	E300D	Pathogenic	1	2	6	58
MUT:BEST1:Glu300Lys	PROT:O76090	BEST1	E	300	K	E300K	Pathogenic	1	1	6	58
MUT:BEST1:Glu35Lys	PROT:O76090	BEST1	E	35	K	E35K	Pathogenic/Likely pathogenic	1	3	6	19
MUT:BEST1:Glu98Asp	PROT:O76090	BEST1	E	98	D	E98D	Pathogenic	1	1	6	33
MUT:BEST1:Glu98Gly	PROT:O76090	BEST1	E	98	G	E98G	Likely pathogenic	1	1	6	33
MUT:BEST1:Gly135Asp	PROT:O76090	BEST1	G	135	D	G135D	Pathogenic	1	1	6	4
MUT:BEST1:Gly15Asp	PROT:O76090	BEST1	G	15	D	G15D	Pathogenic/Likely pathogenic	1	1	6	1
MUT:BEST1:Gly222Val	PROT:O76090	BEST1	G	222	V	G222V	Pathogenic/Likely pathogenic	1	1	6	5
MUT:BEST1:Gly299Glu	PROT:O76090	BEST1	G	299	E	G299E	Pathogenic	1	2	6	59
MUT:BEST1:Ile201Thr	PROT:O76090	BEST1	I	201	T	I201T	Pathogenic/Likely pathogenic	1	3	6	26
MUT:BEST1:Ile205Thr	PROT:O76090	BEST1	I	205	T	I205T	Pathogenic	1	1	6	22
MUT:BEST1:Ile232Asn	PROT:O76090	BEST1	I	232	N	I232N	Likely pathogenic	1	1	6	5
MUT:BEST1:Ile232Ser	PROT:O76090	BEST1	I	232	S	I232S	Likely pathogenic	1	1	6	5
MUT:BEST1:Ile295Thr	PROT:O76090	BEST1	I	295	T	I295T	Pathogenic/Likely pathogenic	1	2	6	63
MUT:BEST1:Ile310Thr	PROT:O76090	BEST1	I	310	T	I310T	Pathogenic/Likely pathogenic	1	1	6	48
MUT:BEST1:Ile73Asn	PROT:O76090	BEST1	I	73	N	I73N	Pathogenic	1	1	6	57
MUT:BEST1:Ile76Asn	PROT:O76090	BEST1	I	76	N	I76N	Pathogenic	1	1	6	55
MUT:BEST1:Leu100Arg	PROT:O76090	BEST1	L	100	R	L100R	Likely pathogenic	1	1	6	31
MUT:BEST1:Leu134Val	PROT:O76090	BEST1	L	134	V	L134V	Pathogenic/Likely pathogenic	1	2	6	3
MUT:BEST1:Leu140Pro	PROT:O76090	BEST1	L	140	P	L140P	Pathogenic	1	1	6	8
MUT:BEST1:Leu207Ile	PROT:O76090	BEST1	L	207	I	L207I	Benign/Likely benign	0	3	6	20
MUT:BEST1:Leu20Val	PROT:O76090	BEST1	L	20	V	L20V	Pathogenic	1	1	6	4
MUT:BEST1:Leu21Arg	PROT:O76090	BEST1	L	21	R	L21R	Pathogenic/Likely pathogenic	1	1	6	5
MUT:BEST1:Leu21Val	PROT:O76090	BEST1	L	21	V	L21V	Pathogenic/Likely pathogenic	1	1	6	5
MUT:BEST1:Leu234Val	PROT:O76090	BEST1	L	234	V	L234V	Likely pathogenic	1	1	6	7
MUT:BEST1:Leu294Phe	PROT:O76090	BEST1	L	294	F	L294F	Pathogenic	1	1	6	64
MUT:BEST1:Leu294Val	PROT:O76090	BEST1	L	294	V	L294V	Likely pathogenic	1	1	6	64
MUT:BEST1:Leu31Met	PROT:O76090	BEST1	L	31	M	L31M	Likely pathogenic	1	1	6	15
MUT:BEST1:Leu32Pro	PROT:O76090	BEST1	L	32	P	L32P	Pathogenic/Likely pathogenic	1	1	6	16
MUT:BEST1:Leu41Pro	PROT:O76090	BEST1	L	41	P	L41P	Pathogenic/Likely pathogenic	1	2	6	25
MUT:BEST1:Leu567Phe	PROT:O76090	BEST1	L	567	F	L567F	Likely benign	0	1	6	209
MUT:BEST1:Leu75Phe	PROT:O76090	BEST1	L	75	F	L75F	Likely pathogenic	1	1	6	56
MUT:BEST1:Lys30Arg	PROT:O76090	BEST1	K	30	R	K30R	Pathogenic/Likely pathogenic	1	2	6	14
MUT:BEST1:Lys30Asn	PROT:O76090	BEST1	K	30	N	K30N	Likely pathogenic	1	1	6	14
MUT:BEST1:Lys30Glu	PROT:O76090	BEST1	K	30	E	K30E	Likely pathogenic	1	1	6	14
MUT:BEST1:Phe298Ser	PROT:O76090	BEST1	F	298	S	F298S	Pathogenic/Likely pathogenic	1	1	6	60
MUT:BEST1:Phe305Leu	PROT:O76090	BEST1	F	305	L	F305L	Pathogenic/Likely pathogenic	1	1	6	53
MUT:BEST1:Phe305Ser	PROT:O76090	BEST1	F	305	S	F305S	Pathogenic/Likely pathogenic	1	2	6	53
MUT:BEST1:Phe36Ile	PROT:O76090	BEST1	F	36	I	F36I	Likely pathogenic	1	1	6	20
MUT:BEST1:Phe80Leu	PROT:O76090	BEST1	F	80	L	F80L	Pathogenic/Likely pathogenic	1	3	6	51
MUT:BEST1:Pro101Arg	PROT:O76090	BEST1	P	101	R	P101R	Likely pathogenic	1	1	6	30
MUT:BEST1:Pro101Leu	PROT:O76090	BEST1	P	101	L	P101L	Pathogenic/Likely pathogenic	1	2	6	30
MUT:BEST1:Pro152Ser	PROT:O76090	BEST1	P	152	S	P152S	Pathogenic/Likely pathogenic	1	2	6	4
MUT:BEST1:Pro274Arg	PROT:O76090	BEST1	P	274	R	P274R	Pathogenic/Likely pathogenic	1	2	6	47
MUT:BEST1:Pro297Ser	PROT:O76090	BEST1	P	297	S	P297S	Pathogenic/Likely pathogenic	1	5	6	61
MUT:BEST1:Pro457Arg	PROT:O76090	BEST1	P	457	R	P457R	Pathogenic	1	1	6	99
MUT:BEST1:Pro468Gln	PROT:O76090	BEST1	P	468	Q	P468Q	Likely pathogenic	1	1	6	110
MUT:BEST1:Pro468Leu	PROT:O76090	BEST1	P	468	L	P468L	Pathogenic	1	2	6	110
MUT:BEST1:Ser144Arg	PROT:O76090	BEST1	S	144	R	S144R	Pathogenic	1	1	6	4
MUT:BEST1:Ser144Asn	PROT:O76090	BEST1	S	144	N	S144N	Pathogenic/Likely pathogenic	1	1	6	4
MUT:BEST1:Ser231Arg	PROT:O76090	BEST1	S	231	R	S231R	Pathogenic/Likely pathogenic	1	1	6	4
MUT:BEST1:Ser246Asn	PROT:O76090	BEST1	S	246	N	S246N	Pathogenic	1	1	6	19
MUT:BEST1:Ser27Arg	PROT:O76090	BEST1	S	27	R	S27R	Pathogenic	1	1	6	11
MUT:BEST1:Ser27Gly	PROT:O76090	BEST1	S	27	G	S27G	Pathogenic/Likely pathogenic	1	1	6	11
MUT:BEST1:Ser27Thr	PROT:O76090	BEST1	S	27	T	S27T	Likely pathogenic	1	1	6	11
MUT:BEST1:Thr237Arg	PROT:O76090	BEST1	T	237	R	T237R	Pathogenic	1	1	6	10
MUT:BEST1:Thr237Ser	PROT:O76090	BEST1	T	237	S	T237S	Pathogenic/Likely pathogenic	1	2	6	10
MUT:BEST1:Thr241Asn	PROT:O76090	BEST1	T	241	N	T241N	Pathogenic/Likely pathogenic	1	1	6	14
MUT:BEST1:Thr277Met	PROT:O76090	BEST1	T	277	M	T277M	Pathogenic/Likely pathogenic	1	1	6	50
MUT:BEST1:Thr2Ser	PROT:O76090	BEST1	T	2	S	T2S	Pathogenic/Likely pathogenic	1	1	6	0
MUT:BEST1:Thr307Asn	PROT:O76090	BEST1	T	307	N	T307N	Pathogenic/Likely pathogenic	1	1	6	51
MUT:BEST1:Thr307Ile	PROT:O76090	BEST1	T	307	I	T307I	Pathogenic/Likely pathogenic	1	1	6	51
MUT:BEST1:Thr4Ile	PROT:O76090	BEST1	T	4	I	T4I	Pathogenic/Likely pathogenic	1	1	6	2
MUT:BEST1:Thr6Ala	PROT:O76090	BEST1	T	6	A	T6A	Pathogenic/Likely pathogenic	1	2	6	4
MUT:BEST1:Thr6Arg	PROT:O76090	BEST1	T	6	R	T6R	Pathogenic/Likely pathogenic	1	1	6	4
MUT:BEST1:Thr6Ile	PROT:O76090	BEST1	T	6	I	T6I	Likely pathogenic	1	1	6	4
MUT:BEST1:Thr6Lys	PROT:O76090	BEST1	T	6	K	T6K	Pathogenic/Likely pathogenic	1	2	6	4
MUT:BEST1:Thr6Pro	PROT:O76090	BEST1	T	6	P	T6P	Pathogenic	1	1	6	4
MUT:BEST1:Trp102Arg	PROT:O76090	BEST1	W	102	R	W102R	Pathogenic	1	1	6	29
MUT:BEST1:Trp24Arg	PROT:O76090	BEST1	W	24	R	W24R	Likely pathogenic	1	1	6	8
MUT:BEST1:Trp24Cys	PROT:O76090	BEST1	W	24	C	W24C	Pathogenic/Likely pathogenic	1	2	6	8
MUT:BEST1:Trp309Arg	PROT:O76090	BEST1	W	309	R	W309R	Pathogenic/Likely pathogenic	1	1	6	49
MUT:BEST1:Trp93Arg	PROT:O76090	BEST1	W	93	R	W93R	Pathogenic/Likely pathogenic	1	1	6	38
MUT:BEST1:Trp93Cys	PROT:O76090	BEST1	W	93	C	W93C	Pathogenic	1	2	6	38
MUT:BEST1:Tyr227Asn	PROT:O76090	BEST1	Y	227	N	Y227N	Pathogenic	1	2	6	0
MUT:BEST1:Tyr227Cys	PROT:O76090	BEST1	Y	227	C	Y227C	Pathogenic/Likely pathogenic	1	2	6	0
MUT:BEST1:Tyr227Phe	PROT:O76090	BEST1	Y	227	F	Y227F	Likely pathogenic	1	1	6	0
MUT:BEST1:Tyr284Phe	PROT:O76090	BEST1	Y	284	F	Y284F	Pathogenic	1	1	6	57
MUT:BEST1:Tyr29Cys	PROT:O76090	BEST1	Y	29	C	Y29C	Likely pathogenic	1	1	6	13
MUT:BEST1:Tyr33Cys	PROT:O76090	BEST1	Y	33	C	Y33C	Likely pathogenic	1	1	6	17
MUT:BEST1:Tyr68Cys	PROT:O76090	BEST1	Y	68	C	Y68C	Likely pathogenic	1	1	6	52
MUT:BEST1:Tyr85His	PROT:O76090	BEST1	Y	85	H	Y85H	Pathogenic	1	2	6	46
MUT:BEST1:Val143Ala	PROT:O76090	BEST1	V	143	A	V143A	Likely pathogenic	1	1	6	5
MUT:BEST1:Val235Ala	PROT:O76090	BEST1	V	235	A	V235A	Pathogenic	1	1	6	8
MUT:BEST1:Val235Gly	PROT:O76090	BEST1	V	235	G	V235G	Likely pathogenic	1	1	6	8
MUT:BEST1:Val239Met	PROT:O76090	BEST1	V	239	M	V239M	Likely pathogenic	1	1	6	12
MUT:BEST1:Val317Met	PROT:O76090	BEST1	V	317	M	V317M	Pathogenic	1	1	6	41
MUT:BEST1:Val492Ile	PROT:O76090	BEST1	V	492	I	V492I	Benign/Likely benign	0	2	6	134
MUT:BEST1:Val81Met	PROT:O76090	BEST1	V	81	M	V81M	Pathogenic/Likely pathogenic	1	2	6	50
MUT:BEST1:Val86Met	PROT:O76090	BEST1	V	86	M	V86M	Pathogenic	1	2	6	45
MUT:BEST1:Val9Gly	PROT:O76090	BEST1	V	9	G	V9G	Likely pathogenic	1	1	6	7
MUT:BEST1:Val9Leu	PROT:O76090	BEST1	V	9	L	V9L	Pathogenic/Likely pathogenic	1	1	6	7
MUT:BEST1:Val9Met	PROT:O76090	BEST1	V	9	M	V9M	Pathogenic	1	2	6	7
MUT:BHLHE41:Ala298Val	PROT:Q9C0J9	BHLHE41	A	298	V	A298V	Benign	0	1	1	24
MUT:BHLHE41:Ala428Thr	PROT:Q9C0J9	BHLHE41	A	428	T	A428T	Benign	0	1	1	154
MUT:BHMT:Cys256Tyr	PROT:Q93088	BHMT	C	256	Y	C256Y	Likely benign	0	1	3	74
MUT:BICC1:Arg800Gln	PROT:Q9H694	BICC1	R	800	Q	R800Q	Benign/Likely benign	0	4	23	1
MUT:BICC1:Arg947Cys	PROT:Q9H694	BICC1	R	947	C	R947C	Likely benign	0	1	23	4
MUT:BICC1:Asn711Thr	PROT:Q9H694	BICC1	N	711	T	N711T	Benign/Likely benign	0	1	23	11
MUT:BICC1:Asn870Asp	PROT:Q9H694	BICC1	N	870	D	N870D	Benign/Likely benign	0	1	23	34
MUT:BICC1:Asn945Ser	PROT:Q9H694	BICC1	N	945	S	N945S	Benign	0	1	23	2
MUT:BICC1:Glu682Asp	PROT:Q9H694	BICC1	E	682	D	E682D	Benign	0	1	23	3
MUT:BICC1:Val206Met	PROT:Q9H694	BICC1	V	206	M	V206M	Benign	0	1	23	56
MUT:BICRA:Glu1135Gly	PROT:Q9NZM4	BICRA	E	1135	G	E1135G	Likely benign	0	1	5	9
MUT:BICRA:Glu64Asp	PROT:Q9NZM4	BICRA	E	64	D	E64D	Pathogenic	1	1	5	673
MUT:BICRA:Gly91Ser	PROT:Q9NZM4	BICRA	G	91	S	G91S	Likely benign	0	1	5	646
MUT:BICRA:Pro1367Gln	PROT:Q9NZM4	BICRA	P	1367	Q	P1367Q	Likely benign	0	1	5	167
MUT:BICRA:Pro683Ser	PROT:Q9NZM4	BICRA	P	683	S	P683S	Benign	0	1	5	54
MUT:BICRA:Ser673Thr	PROT:Q9NZM4	BICRA	S	673	T	S673T	Likely pathogenic	1	1	5	64
MUT:BICRA:Val1322Met	PROT:Q9NZM4	BICRA	V	1322	M	V1322M	Likely pathogenic	1	1	5	196
MUT:BIN1:Arg145Cys	PROT:O00499	BIN1	R	145	C	R145C	Likely pathogenic	1	1	27	1
MUT:BIN1:Arg234Cys	PROT:O00499	BIN1	R	234	C	R234C	Pathogenic/Likely pathogenic	1	1	27	24
MUT:BIN1:Arg514Cys	PROT:O00499	BIN1	R	514	C	R514C	Benign/Likely benign	0	3	27	20
MUT:BIN1:Asp151Asn	PROT:O00499	BIN1	D	151	N	D151N	Pathogenic	1	1	27	1
MUT:BIN1:Gly433Arg	PROT:O00499	BIN1	G	433	R	G433R	Likely benign	0	1	27	55
MUT:BIN1:Lys35Asn	PROT:O00499	BIN1	K	35	N	K35N	Pathogenic	1	1	27	0
MUT:BIN1:Pro431Leu	PROT:O00499	BIN1	P	431	L	P431L	Benign/Likely benign	0	1	27	57
MUT:BIN1:Ser462Leu	PROT:O00499	BIN1	S	462	L	S462L	Likely benign	0	1	27	26
MUT:BIN1:Thr532Met	PROT:O00499	BIN1	T	532	M	T532M	Benign/Likely benign	0	1	27	2
MUT:BLMH:Ile443Val	PROT:Q13867	BLMH	I	443	V	I443V	Benign	0	1	14	52
MUT:BLTP1:Ala4333Thr	PROT:Q2LD37	BLTP1	A	4333	T	A4333T	Pathogenic	1	1	39	36
MUT:BLTP1:Arg1958Gln	PROT:Q2LD37	BLTP1	R	1958	Q	R1958Q	Likely benign	0	1	39	1
MUT:BLTP1:Arg3858Cys	PROT:Q2LD37	BLTP1	R	3858	C	R3858C	Likely benign	0	1	39	12
MUT:BLTP1:Arg968Cys	PROT:Q2LD37	BLTP1	R	968	C	R968C	Likely pathogenic	1	1	39	5
MUT:BLTP1:Asp1951Glu	PROT:Q2LD37	BLTP1	D	1951	E	D1951E	Benign	0	1	39	8
MUT:BLTP1:Gly3385Arg	PROT:Q2LD37	BLTP1	G	3385	R	G3385R	Pathogenic	1	1	39	177
MUT:BLTP1:Gly437Glu	PROT:Q2LD37	BLTP1	G	437	E	G437E	Likely pathogenic	1	1	39	145
MUT:BLTP1:Ile4986Thr	PROT:Q2LD37	BLTP1	I	4986	T	I4986T	Likely benign	0	1	39	617
MUT:BLTP1:Pro3798Leu	PROT:Q2LD37	BLTP1	P	3798	L	P3798L	Likely benign	0	1	39	37
MUT:BLTP1:Thr1709Ile	PROT:Q2LD37	BLTP1	T	1709	I	T1709I	Likely benign	0	1	39	27
MUT:BLTP1:Thr2952Ala	PROT:Q2LD37	BLTP1	T	2952	A	T2952A	Likely benign	0	1	39	28
MUT:BLTP1:Thr4440Ala	PROT:Q2LD37	BLTP1	T	4440	A	T4440A	Benign	0	1	39	71
MUT:BLTP1:Thr4874Ala	PROT:Q2LD37	BLTP1	T	4874	A	T4874A	Benign	0	1	39	505
MUT:BLTP1:Thr811Ala	PROT:Q2LD37	BLTP1	T	811	A	T811A	Likely pathogenic	1	1	39	0
MUT:BLTP1:Val1867Met	PROT:Q2LD37	BLTP1	V	1867	M	V1867M	Pathogenic	1	1	39	92
MUT:BLTP1:Val640Ile	PROT:Q2LD37	BLTP1	V	640	I	V640I	Likely benign	0	1	39	58
MUT:BLTP2:His986Gln	PROT:Q14667	BLTP2	H	986	Q	H986Q	Benign	0	8	20	56
MUT:BMP15:Arg138His	PROT:O95972	BMP15	R	138	H	R138H	Pathogenic	1	1	3	72
MUT:BMP15:Arg145His	PROT:O95972	BMP15	R	145	H	R145H	Likely benign	0	1	3	79
MUT:BMP15:Arg206His	PROT:O95972	BMP15	R	206	H	R206H	Pathogenic	1	1	3	29
MUT:BMP15:Arg75Gln	PROT:O95972	BMP15	R	75	Q	R75Q	Likely benign	0	1	3	9
MUT:BMP15:Asn103Ser	PROT:O95972	BMP15	N	103	S	N103S	Benign	0	1	3	37
MUT:BMP15:Gly29Arg	PROT:O95972	BMP15	G	29	R	G29R	Likely benign	0	1	3	37
MUT:BMP15:His200Tyr	PROT:O95972	BMP15	H	200	Y	H200Y	Benign	0	2	3	35
MUT:BMP15:His307Tyr	PROT:O95972	BMP15	H	307	Y	H307Y	Likely pathogenic	1	1	3	34
MUT:BMP15:Ile243Val	PROT:O95972	BMP15	I	243	V	I243V	Pathogenic	1	1	3	8
MUT:BMP15:Leu148Pro	PROT:O95972	BMP15	L	148	P	L148P	Benign/Likely benign	0	1	3	82
MUT:BMP15:Leu218Phe	PROT:O95972	BMP15	L	218	F	L218F	Likely benign	0	1	3	17
MUT:BMP15:Met177Leu	PROT:O95972	BMP15	M	177	L	M177L	Likely benign	0	1	3	58
MUT:BMP15:Met70Leu	PROT:O95972	BMP15	M	70	L	M70L	Likely pathogenic	1	1	3	4
MUT:BMP15:Phe194Ser	PROT:O95972	BMP15	F	194	S	F194S	Benign/Likely benign	0	2	3	41
MUT:BMP15:Pro174Ser	PROT:O95972	BMP15	P	174	S	P174S	Likely benign	0	1	3	61
MUT:BMP15:Ser5Arg	PROT:O95972	BMP15	S	5	R	S5R	Benign/Likely benign	0	1	3	61
MUT:BMP15:Trp221Arg	PROT:O95972	BMP15	W	221	R	W221R	Pathogenic	1	1	3	14
MUT:BMP15:Tyr235Cys	PROT:O95972	BMP15	Y	235	C	Y235C	Pathogenic	1	1	3	0
MUT:BMP4:Arg287His	PROT:P12644	BMP4	R	287	H	R287H	Benign/Likely benign	0	3	2	59
MUT:BMP4:Cys373Tyr	PROT:P12644	BMP4	C	373	Y	C373Y	Likely pathogenic	1	1	2	145
MUT:BMP4:Glu93Gly	PROT:P12644	BMP4	E	93	G	E93G	Likely benign	0	1	2	2
MUT:BMP4:Gly40Asp	PROT:P12644	BMP4	G	40	D	G40D	Likely benign	0	1	2	51
MUT:BMP4:Ile178Arg	PROT:P12644	BMP4	I	178	R	I178R	Likely pathogenic	1	1	2	50
MUT:BMP4:Ser76Arg	PROT:P12644	BMP4	S	76	R	S76R	Benign	0	1	2	15
MUT:BMP4:Val152Ala	PROT:P12644	BMP4	V	152	A	V152A	Benign/Likely benign	0	2	2	61
MUT:BMPR1B:Arg149Trp	PROT:O00238	BMPR1B	R	149	W	R149W	Benign	0	2	5	26
MUT:BMPR1B:Arg224Cys	PROT:O00238	BMPR1B	R	224	C	R224C	Benign	0	1	5	49
MUT:BMPR1B:Arg31Cys	PROT:O00238	BMPR1B	R	31	C	R31C	Pathogenic	1	1	5	61
MUT:BMPR1B:Arg31His	PROT:O00238	BMPR1B	R	31	H	R31H	Benign/Likely benign	0	1	5	61
MUT:BMPR1B:Arg371Gln	PROT:O00238	BMPR1B	R	371	Q	R371Q	Likely benign	0	2	5	35
MUT:BMPR1B:Arg371Leu	PROT:O00238	BMPR1B	R	371	L	R371L	Benign/Likely benign	0	1	5	35
MUT:BMPR1B:Arg486Gln	PROT:O00238	BMPR1B	R	486	Q	R486Q	Likely pathogenic	1	2	5	7
MUT:BMPR1B:Arg486Trp	PROT:O00238	BMPR1B	R	486	W	R486W	Pathogenic	1	1	5	7
MUT:BMPR1B:Cys53Arg	PROT:O00238	BMPR1B	C	53	R	C53R	Pathogenic	1	1	5	39
MUT:BMPR1B:His330Tyr	PROT:O00238	BMPR1B	H	330	Y	H330Y	Likely pathogenic	1	1	5	6
MUT:BMPR1B:Ile200Lys	PROT:O00238	BMPR1B	I	200	K	I200K	Likely pathogenic	1	1	5	25
MUT:BMPR1B:Lys325Asn	PROT:O00238	BMPR1B	K	325	N	K325N	Pathogenic	1	1	5	11
MUT:BMPR1B:Met397Arg	PROT:O00238	BMPR1B	M	397	R	M397R	Likely pathogenic	1	1	5	61
MUT:BMPR1B:Pro368Ser	PROT:O00238	BMPR1B	P	368	S	P368S	Benign	0	1	5	32
MUT:BMPR1B:Ser175Pro	PROT:O00238	BMPR1B	S	175	P	S175P	Likely benign	0	1	5	0
MUT:BMPR1B:Val132Gly	PROT:O00238	BMPR1B	V	132	G	V132G	Likely benign	0	1	5	40
MUT:BMPR1B:Val140Ile	PROT:O00238	BMPR1B	V	140	I	V140I	Benign/Likely benign	0	2	5	35
MUT:BOD1L1:Leu2099Val	PROT:Q8NFC6	BOD1L1	L	2099	V	L2099V	Likely benign	0	2	65	25
MUT:BPHL:Thr178Met	PROT:Q86WA6	BPHL	T	178	M	T178M	Pathogenic/Likely pathogenic	1	1	4	52
MUT:BRAT1:Ala565Thr	PROT:Q6PJG6	BRAT1	A	565	T	A565T	Likely benign	0	1	20	17
MUT:BRAT1:Ala641Val	PROT:Q6PJG6	BRAT1	A	641	V	A641V	Likely benign	0	2	20	59
MUT:BRAT1:Ala642Glu	PROT:Q6PJG6	BRAT1	A	642	E	A642E	Likely pathogenic	1	2	20	60
MUT:BRAT1:Arg138His	PROT:Q6PJG6	BRAT1	R	138	H	R138H	Benign	0	1	20	17
MUT:BRAT1:Arg243His	PROT:Q6PJG6	BRAT1	R	243	H	R243H	Likely benign	0	2	20	13
MUT:BRAT1:Arg268His	PROT:Q6PJG6	BRAT1	R	268	H	R268H	Pathogenic/Likely pathogenic	1	1	20	36
MUT:BRAT1:Arg285Gln	PROT:Q6PJG6	BRAT1	R	285	Q	R285Q	Benign	0	1	20	19
MUT:BRAT1:Arg562Pro	PROT:Q6PJG6	BRAT1	R	562	P	R562P	Likely pathogenic	1	1	20	20
MUT:BRAT1:Arg621Gln	PROT:Q6PJG6	BRAT1	R	621	Q	R621Q	Benign/Likely benign	0	2	20	39
MUT:BRAT1:Arg644Gln	PROT:Q6PJG6	BRAT1	R	644	Q	R644Q	Benign	0	1	20	62
MUT:BRAT1:Arg737Trp	PROT:Q6PJG6	BRAT1	R	737	W	R737W	Benign	0	1	20	5
MUT:BRAT1:Arg756Trp	PROT:Q6PJG6	BRAT1	R	756	W	R756W	Likely benign	0	1	20	5
MUT:BRAT1:Asp626Asn	PROT:Q6PJG6	BRAT1	D	626	N	D626N	Likely benign	0	1	20	44
MUT:BRAT1:Cys539Gly	PROT:Q6PJG6	BRAT1	C	539	G	C539G	Likely benign	0	1	20	11
MUT:BRAT1:Gln153Pro	PROT:Q6PJG6	BRAT1	Q	153	P	Q153P	Likely pathogenic	1	1	20	32
MUT:BRAT1:Gly110Ser	PROT:Q6PJG6	BRAT1	G	110	S	G110S	Likely benign	0	1	20	11
MUT:BRAT1:Gly144Asp	PROT:Q6PJG6	BRAT1	G	144	D	G144D	Benign/Likely benign	0	2	20	23
MUT:BRAT1:Gly189Val	PROT:Q6PJG6	BRAT1	G	189	V	G189V	Benign/Likely benign	0	1	20	8
MUT:BRAT1:Gly576Ser	PROT:Q6PJG6	BRAT1	G	576	S	G576S	Benign/Likely benign	0	1	20	6
MUT:BRAT1:Gly623Ser	PROT:Q6PJG6	BRAT1	G	623	S	G623S	Benign/Likely benign	0	1	20	41
MUT:BRAT1:Gly663Asp	PROT:Q6PJG6	BRAT1	G	663	D	G663D	Benign	0	1	20	66
MUT:BRAT1:His133Arg	PROT:Q6PJG6	BRAT1	H	133	R	H133R	Likely pathogenic	1	1	20	12
MUT:BRAT1:Ile730Thr	PROT:Q6PJG6	BRAT1	I	730	T	I730T	Likely benign	0	1	20	1
MUT:BRAT1:Leu140Pro	PROT:Q6PJG6	BRAT1	L	140	P	L140P	Likely pathogenic	1	2	20	19
MUT:BRAT1:Leu321Arg	PROT:Q6PJG6	BRAT1	L	321	R	L321R	Benign/Likely benign	0	2	20	17
MUT:BRAT1:Leu59Pro	PROT:Q6PJG6	BRAT1	L	59	P	L59P	Pathogenic	1	1	20	28
MUT:BRAT1:Leu600Phe	PROT:Q6PJG6	BRAT1	L	600	F	L600F	Benign	0	1	20	18
MUT:BRAT1:Lys304Gln	PROT:Q6PJG6	BRAT1	K	304	Q	K304Q	Likely benign	0	1	20	0
MUT:BRAT1:Met199Leu	PROT:Q6PJG6	BRAT1	M	199	L	M199L	Likely benign	0	1	20	2
MUT:BRAT1:Met1Val	PROT:Q6PJG6	BRAT1	M	1	V	M1V	Pathogenic	1	1	20	30
MUT:BRAT1:Pro187Arg	PROT:Q6PJG6	BRAT1	P	187	R	P187R	Benign/Likely benign	0	1	20	10
MUT:BRAT1:Pro669Leu	PROT:Q6PJG6	BRAT1	P	669	L	P669L	Likely benign	0	1	20	60
MUT:BRAT1:Ser121Arg	PROT:Q6PJG6	BRAT1	S	121	R	S121R	Likely benign	0	2	20	0
MUT:BRAT1:Val171Leu	PROT:Q6PJG6	BRAT1	V	171	L	V171L	Likely benign	0	1	20	26
MUT:BRAT1:Val546Leu	PROT:Q6PJG6	BRAT1	V	546	L	V546L	Benign	0	2	20	18
MUT:BRAT1:Val56Leu	PROT:Q6PJG6	BRAT1	V	56	L	V56L	Likely benign	0	1	20	25
MUT:BRAT1:Val56Met	PROT:Q6PJG6	BRAT1	V	56	M	V56M	Benign/Likely benign	0	2	20	25
MUT:BRAT1:Val682Gly	PROT:Q6PJG6	BRAT1	V	682	G	V682G	Likely benign	0	1	20	47
MUT:BRCA1:Ala102Gly	PROT:P38398	BRCA1	A	102	G	A102G	Benign	0	4	129	12
MUT:BRCA1:Ala1039Gly	PROT:P38398	BRCA1	A	1039	G	A1039G	Likely benign	0	1	129	11
MUT:BRCA1:Ala108Ser	PROT:P38398	BRCA1	A	108	S	A108S	Likely benign	0	1	129	6
MUT:BRCA1:Ala1277Pro	PROT:P38398	BRCA1	A	1277	P	A1277P	Likely benign	0	2	129	1
MUT:BRCA1:Ala1369Val	PROT:P38398	BRCA1	A	1369	V	A1369V	Likely benign	0	1	129	18
MUT:BRCA1:Ala1481Gly	PROT:P38398	BRCA1	A	1481	G	A1481G	Likely benign	0	1	129	1
MUT:BRCA1:Ala1584Ser	PROT:P38398	BRCA1	A	1584	S	A1584S	Likely benign	0	4	129	7
MUT:BRCA1:Ala1623Gly	PROT:P38398	BRCA1	A	1623	G	A1623G	Pathogenic/Likely pathogenic	1	5	129	4
MUT:BRCA1:Ala1641Ser	PROT:P38398	BRCA1	A	1641	S	A1641S	Likely benign	0	2	129	1
MUT:BRCA1:Ala1641Thr	PROT:P38398	BRCA1	A	1641	T	A1641T	Likely benign	0	2	129	1
MUT:BRCA1:Ala1708Glu	PROT:P38398	BRCA1	A	1708	E	A1708E	Pathogenic	1	9	129	8
MUT:BRCA1:Ala1752Glu	PROT:P38398	BRCA1	A	1752	E	A1752E	Pathogenic	1	2	129	25
MUT:BRCA1:Ala1752Pro	PROT:P38398	BRCA1	A	1752	P	A1752P	Pathogenic/Likely pathogenic	1	3	129	25
MUT:BRCA1:Ala1789Asp	PROT:P38398	BRCA1	A	1789	D	A1789D	Likely pathogenic	1	2	129	1
MUT:BRCA1:Ala1789Thr	PROT:P38398	BRCA1	A	1789	T	A1789T	Likely pathogenic	1	4	129	1
MUT:BRCA1:Ala1789Val	PROT:P38398	BRCA1	A	1789	V	A1789V	Likely pathogenic	1	2	129	1
MUT:BRCA1:Ala1814Thr	PROT:P38398	BRCA1	A	1814	T	A1814T	Likely benign	0	2	129	24
MUT:BRCA1:Ala1823Pro	PROT:P38398	BRCA1	A	1823	P	A1823P	Likely pathogenic	1	2	129	33
MUT:BRCA1:Ala1823Ser	PROT:P38398	BRCA1	A	1823	S	A1823S	Pathogenic	1	2	129	33
MUT:BRCA1:Ala1823Thr	PROT:P38398	BRCA1	A	1823	T	A1823T	Pathogenic/Likely pathogenic	1	4	129	33
MUT:BRCA1:Ala1830Ser	PROT:P38398	BRCA1	A	1830	S	A1830S	Likely pathogenic	1	2	129	40
MUT:BRCA1:Ala1843Pro	PROT:P38398	BRCA1	A	1843	P	A1843P	Likely pathogenic	1	3	129	53
MUT:BRCA1:Ala280Gly	PROT:P38398	BRCA1	A	280	G	A280G	Benign	0	3	129	14
MUT:BRCA1:Ala314Thr	PROT:P38398	BRCA1	A	314	T	A314T	Likely benign	0	1	129	5
MUT:BRCA1:Ala439Val	PROT:P38398	BRCA1	A	439	V	A439V	Likely benign	0	1	129	4
MUT:BRCA1:Ala521Pro	PROT:P38398	BRCA1	A	521	P	A521P	Likely benign	0	1	129	2
MUT:BRCA1:Ala622Val	PROT:P38398	BRCA1	A	622	V	A622V	Benign	0	6	129	5
MUT:BRCA1:Ala744Thr	PROT:P38398	BRCA1	A	744	T	A744T	Likely benign	0	1	129	4
MUT:BRCA1:Arg1028Cys	PROT:P38398	BRCA1	R	1028	C	R1028C	Benign	0	5	129	19
MUT:BRCA1:Arg1028His	PROT:P38398	BRCA1	R	1028	H	R1028H	Benign	0	4	129	19
MUT:BRCA1:Arg1076Ser	PROT:P38398	BRCA1	R	1076	S	R1076S	Likely benign	0	2	129	3
MUT:BRCA1:Arg1188Met	PROT:P38398	BRCA1	R	1188	M	R1188M	Likely benign	0	2	129	1
MUT:BRCA1:Arg1203Gln	PROT:P38398	BRCA1	R	1203	Q	R1203Q	Benign	0	5	129	1
MUT:BRCA1:Arg1243Thr	PROT:P38398	BRCA1	R	1243	T	R1243T	Likely benign	0	2	129	2
MUT:BRCA1:Arg133Cys	PROT:P38398	BRCA1	R	133	C	R133C	Benign	0	4	129	10
MUT:BRCA1:Arg1347Gly	PROT:P38398	BRCA1	R	1347	G	R1347G	Benign	0	6	129	5
MUT:BRCA1:Arg1443Gly	PROT:P38398	BRCA1	R	1443	G	R1443G	Benign	0	5	129	14
MUT:BRCA1:Arg1495Lys	PROT:P38398	BRCA1	R	1495	K	R1495K	Pathogenic	1	5	129	1
MUT:BRCA1:Arg1495Met	PROT:P38398	BRCA1	R	1495	M	R1495M	Pathogenic	1	5	129	1
MUT:BRCA1:Arg1495Thr	PROT:P38398	BRCA1	R	1495	T	R1495T	Pathogenic	1	3	129	1
MUT:BRCA1:Arg1507Thr	PROT:P38398	BRCA1	R	1507	T	R1507T	Benign	0	5	129	4
MUT:BRCA1:Arg1589His	PROT:P38398	BRCA1	R	1589	H	R1589H	Benign/Likely benign	0	4	129	12
MUT:BRCA1:Arg1634Ser	PROT:P38398	BRCA1	R	1634	S	R1634S	Benign	0	1	129	2
MUT:BRCA1:Arg1699Gln	PROT:P38398	BRCA1	R	1699	Q	R1699Q	Pathogenic	1	10	129	1
MUT:BRCA1:Arg1699Leu	PROT:P38398	BRCA1	R	1699	L	R1699L	Likely pathogenic	1	2	129	1
MUT:BRCA1:Arg1699Trp	PROT:P38398	BRCA1	R	1699	W	R1699W	Pathogenic	1	11	129	1
MUT:BRCA1:Arg170Trp	PROT:P38398	BRCA1	R	170	W	R170W	Benign	0	3	129	6
MUT:BRCA1:Arg1737Gly	PROT:P38398	BRCA1	R	1737	G	R1737G	Likely benign	0	2	129	15
MUT:BRCA1:Arg1751Gln	PROT:P38398	BRCA1	R	1751	Q	R1751Q	Benign	0	5	129	26
MUT:BRCA1:Arg1751Gly	PROT:P38398	BRCA1	R	1751	G	R1751G	Likely pathogenic	1	3	129	26
MUT:BRCA1:Arg1751Pro	PROT:P38398	BRCA1	R	1751	P	R1751P	Likely pathogenic	1	5	129	26
MUT:BRCA1:Arg1753Gly	PROT:P38398	BRCA1	R	1753	G	R1753G	Likely pathogenic	1	4	129	24
MUT:BRCA1:Arg1753Ile	PROT:P38398	BRCA1	R	1753	I	R1753I	Likely pathogenic	1	2	129	24
MUT:BRCA1:Arg1753Ser	PROT:P38398	BRCA1	R	1753	S	R1753S	Likely pathogenic	1	2	129	24
MUT:BRCA1:Arg496Cys	PROT:P38398	BRCA1	R	496	C	R496C	Benign	0	7	129	13
MUT:BRCA1:Arg496His	PROT:P38398	BRCA1	R	496	H	R496H	Benign	0	6	129	13
MUT:BRCA1:Arg496Pro	PROT:P38398	BRCA1	R	496	P	R496P	Likely benign	0	1	129	13
MUT:BRCA1:Arg504His	PROT:P38398	BRCA1	R	504	H	R504H	Benign	0	5	129	5
MUT:BRCA1:Arg612Gly	PROT:P38398	BRCA1	R	612	G	R612G	Benign	0	3	129	3
MUT:BRCA1:Arg71Gly	PROT:P38398	BRCA1	R	71	G	R71G	Pathogenic	1	6	129	6
MUT:BRCA1:Arg71Lys	PROT:P38398	BRCA1	R	71	K	R71K	Pathogenic	1	3	129	6
MUT:BRCA1:Arg71Met	PROT:P38398	BRCA1	R	71	M	R71M	Pathogenic/Likely pathogenic	1	3	129	6
MUT:BRCA1:Arg71Thr	PROT:P38398	BRCA1	R	71	T	R71T	Pathogenic	1	4	129	6
MUT:BRCA1:Arg71Trp	PROT:P38398	BRCA1	R	71	W	R71W	Likely pathogenic	1	2	129	6
MUT:BRCA1:Arg762Ser	PROT:P38398	BRCA1	R	762	S	R762S	Benign	0	7	129	9
MUT:BRCA1:Arg7Leu	PROT:P38398	BRCA1	R	7	L	R7L	Likely benign	0	2	129	6
MUT:BRCA1:Arg823Gly	PROT:P38398	BRCA1	R	823	G	R823G	Likely benign	0	1	129	3
MUT:BRCA1:Arg841Gln	PROT:P38398	BRCA1	R	841	Q	R841Q	Benign/Likely benign	0	4	129	1
MUT:BRCA1:Arg841Trp	PROT:P38398	BRCA1	R	841	W	R841W	Benign	0	5	129	1
MUT:BRCA1:Arg866Cys	PROT:P38398	BRCA1	R	866	C	R866C	Benign	0	5	129	2
MUT:BRCA1:Arg866His	PROT:P38398	BRCA1	R	866	H	R866H	Benign	0	4	129	2
MUT:BRCA1:Arg866Leu	PROT:P38398	BRCA1	R	866	L	R866L	Likely benign	0	1	129	2
MUT:BRCA1:Arg979Cys	PROT:P38398	BRCA1	R	979	C	R979C	Likely benign	0	4	129	8
MUT:BRCA1:Asn1043Ser	PROT:P38398	BRCA1	N	1043	S	N1043S	Likely benign	0	1	129	7
MUT:BRCA1:Asn1236Lys	PROT:P38398	BRCA1	N	1236	K	N1236K	Benign	0	5	129	3
MUT:BRCA1:Asn132Lys	PROT:P38398	BRCA1	N	132	K	N132K	Benign	0	4	129	9
MUT:BRCA1:Asn1468His	PROT:P38398	BRCA1	N	1468	H	N1468H	Benign	0	5	129	2
MUT:BRCA1:Asn1647Asp	PROT:P38398	BRCA1	N	1647	D	N1647D	Benign	0	2	129	5
MUT:BRCA1:Asn16Asp	PROT:P38398	BRCA1	N	16	D	N16D	Likely benign	0	2	129	15
MUT:BRCA1:Asn1730Lys	PROT:P38398	BRCA1	N	1730	K	N1730K	Likely benign	0	2	129	8
MUT:BRCA1:Asn1819Ser	PROT:P38398	BRCA1	N	1819	S	N1819S	Benign/Likely benign	0	3	129	29
MUT:BRCA1:Asn235Tyr	PROT:P38398	BRCA1	N	235	Y	N235Y	Likely benign	0	1	129	12
MUT:BRCA1:Asn247Asp	PROT:P38398	BRCA1	N	247	D	N247D	Likely benign	0	1	129	24
MUT:BRCA1:Asn343Cys	PROT:P38398	BRCA1	N	343	C	N343C	Likely benign	0	1	129	14
MUT:BRCA1:Asn363Ser	PROT:P38398	BRCA1	N	363	S	N363S	Likely benign	0	1	129	6
MUT:BRCA1:Asn376Ser	PROT:P38398	BRCA1	N	376	S	N376S	Likely benign	0	2	129	19
MUT:BRCA1:Asn473Ile	PROT:P38398	BRCA1	N	473	I	N473I	Benign	0	3	129	10
MUT:BRCA1:Asn473Ser	PROT:P38398	BRCA1	N	473	S	N473S	Benign	0	4	129	10
MUT:BRCA1:Asn537Lys	PROT:P38398	BRCA1	N	537	K	N537K	Likely benign	0	1	129	14
MUT:BRCA1:Asn550His	PROT:P38398	BRCA1	N	550	H	N550H	Benign	0	8	129	1
MUT:BRCA1:Asn66Ser	PROT:P38398	BRCA1	N	66	S	N66S	Likely benign	0	2	129	1
MUT:BRCA1:Asn723Asp	PROT:P38398	BRCA1	N	723	D	N723D	Benign	0	7	129	12
MUT:BRCA1:Asn810Tyr	PROT:P38398	BRCA1	N	810	Y	N810Y	Benign	0	4	129	7
MUT:BRCA1:Asn909Asp	PROT:P38398	BRCA1	N	909	D	N909D	Likely benign	0	1	129	41
MUT:BRCA1:Asn916Tyr	PROT:P38398	BRCA1	N	916	Y	N916Y	Likely benign	0	2	129	48
MUT:BRCA1:Asn997Lys	PROT:P38398	BRCA1	N	997	K	N997K	Likely benign	0	1	129	9
MUT:BRCA1:Asp1152Tyr	PROT:P38398	BRCA1	D	1152	Y	D1152Y	Likely benign	0	1	129	9
MUT:BRCA1:Asp1155His	PROT:P38398	BRCA1	D	1155	H	D1155H	Benign	0	3	129	9
MUT:BRCA1:Asp1156Ala	PROT:P38398	BRCA1	D	1156	A	D1156A	Likely benign	0	1	129	8
MUT:BRCA1:Asp1162Asn	PROT:P38398	BRCA1	D	1162	N	D1162N	Likely benign	0	1	129	2
MUT:BRCA1:Asp1337Glu	PROT:P38398	BRCA1	D	1337	E	D1337E	Likely benign	0	2	129	1
MUT:BRCA1:Asp1390Tyr	PROT:P38398	BRCA1	D	1390	Y	D1390Y	Likely benign	0	1	129	3
MUT:BRCA1:Asp1546Asn	PROT:P38398	BRCA1	D	1546	N	D1546N	Benign	0	6	129	2
MUT:BRCA1:Asp1546Tyr	PROT:P38398	BRCA1	D	1546	Y	D1546Y	Benign	0	3	129	2
MUT:BRCA1:Asp1692Asn	PROT:P38398	BRCA1	D	1692	N	D1692N	Pathogenic/Likely pathogenic	1	4	129	8
MUT:BRCA1:Asp1692His	PROT:P38398	BRCA1	D	1692	H	D1692H	Pathogenic	1	5	129	8
MUT:BRCA1:Asp1692Tyr	PROT:P38398	BRCA1	D	1692	Y	D1692Y	Pathogenic	1	1	129	8
MUT:BRCA1:Asp1692Val	PROT:P38398	BRCA1	D	1692	V	D1692V	Likely pathogenic	1	4	129	8
MUT:BRCA1:Asp1733Gly	PROT:P38398	BRCA1	D	1733	G	D1733G	Benign	0	4	129	11
MUT:BRCA1:Asp1739Glu	PROT:P38398	BRCA1	D	1739	E	D1739E	Likely pathogenic	1	2	129	17
MUT:BRCA1:Asp1739Gly	PROT:P38398	BRCA1	D	1739	G	D1739G	Pathogenic/Likely pathogenic	1	5	129	17
MUT:BRCA1:Asp1739His	PROT:P38398	BRCA1	D	1739	H	D1739H	Likely pathogenic	1	2	129	17
MUT:BRCA1:Asp1739Tyr	PROT:P38398	BRCA1	D	1739	Y	D1739Y	Pathogenic/Likely pathogenic	1	3	129	17
MUT:BRCA1:Asp1739Val	PROT:P38398	BRCA1	D	1739	V	D1739V	Pathogenic/Likely pathogenic	1	2	129	17
MUT:BRCA1:Asp1757Tyr	PROT:P38398	BRCA1	D	1757	Y	D1757Y	Likely benign	0	2	129	20
MUT:BRCA1:Asp1778Asn	PROT:P38398	BRCA1	D	1778	N	D1778N	Pathogenic	1	4	129	1
MUT:BRCA1:Asp1778Tyr	PROT:P38398	BRCA1	D	1778	Y	D1778Y	Likely pathogenic	1	2	129	1
MUT:BRCA1:Asp1818Asn	PROT:P38398	BRCA1	D	1818	N	D1818N	Likely benign	0	2	129	28
MUT:BRCA1:Asp1818Gly	PROT:P38398	BRCA1	D	1818	G	D1818G	Pathogenic/Likely pathogenic	1	5	129	28
MUT:BRCA1:Asp214Gly	PROT:P38398	BRCA1	D	214	G	D214G	Benign	0	5	129	6
MUT:BRCA1:Asp2Asn	PROT:P38398	BRCA1	D	2	N	D2N	Likely benign	0	2	129	1
MUT:BRCA1:Asp330Gly	PROT:P38398	BRCA1	D	330	G	D330G	Likely benign	0	1	129	21
MUT:BRCA1:Asp345Glu	PROT:P38398	BRCA1	D	345	E	D345E	Likely benign	0	1	129	12
MUT:BRCA1:Asp369Asn	PROT:P38398	BRCA1	D	369	N	D369N	Benign	0	5	129	12
MUT:BRCA1:Asp390Gly	PROT:P38398	BRCA1	D	390	G	D390G	Likely benign	0	1	129	5
MUT:BRCA1:Asp40Gly	PROT:P38398	BRCA1	D	40	G	D40G	Likely benign	0	2	129	2
MUT:BRCA1:Asp411Glu	PROT:P38398	BRCA1	D	411	E	D411E	Benign	0	5	129	6
MUT:BRCA1:Asp414Tyr	PROT:P38398	BRCA1	D	414	Y	D414Y	Likely benign	0	1	129	9
MUT:BRCA1:Asp522Asn	PROT:P38398	BRCA1	D	522	N	D522N	Likely benign	0	2	129	3
MUT:BRCA1:Asp642His	PROT:P38398	BRCA1	D	642	H	D642H	Benign	0	3	129	10
MUT:BRCA1:Asp67Tyr	PROT:P38398	BRCA1	D	67	Y	D67Y	Benign	0	5	129	2
MUT:BRCA1:Asp693Asn	PROT:P38398	BRCA1	D	693	N	D693N	Benign	0	5	129	1
MUT:BRCA1:Asp693Tyr	PROT:P38398	BRCA1	D	693	Y	D693Y	Benign	0	1	129	1
MUT:BRCA1:Asp695Tyr	PROT:P38398	BRCA1	D	695	Y	D695Y	Benign	0	5	129	1
MUT:BRCA1:Asp746Val	PROT:P38398	BRCA1	D	746	V	D746V	Likely benign	0	1	129	2
MUT:BRCA1:Asp749His	PROT:P38398	BRCA1	D	749	H	D749H	Likely benign	0	2	129	1
MUT:BRCA1:Asp825Val	PROT:P38398	BRCA1	D	825	V	D825V	Likely benign	0	2	129	5
MUT:BRCA1:Asp96Ala	PROT:P38398	BRCA1	D	96	A	D96A	Likely pathogenic	1	1	129	18
MUT:BRCA1:Asp96Asn	PROT:P38398	BRCA1	D	96	N	D96N	Likely pathogenic	1	4	129	18
MUT:BRCA1:Asp96Gly	PROT:P38398	BRCA1	D	96	G	D96G	Pathogenic/Likely pathogenic	1	3	129	18
MUT:BRCA1:Asp96Val	PROT:P38398	BRCA1	D	96	V	D96V	Pathogenic/Likely pathogenic	1	3	129	18
MUT:BRCA1:Cys1270Trp	PROT:P38398	BRCA1	C	1270	W	C1270W	Likely benign	0	1	129	1
MUT:BRCA1:Cys1697Arg	PROT:P38398	BRCA1	C	1697	R	C1697R	Pathogenic	1	5	129	3
MUT:BRCA1:Cys1697Phe	PROT:P38398	BRCA1	C	1697	F	C1697F	Likely pathogenic	1	2	129	3
MUT:BRCA1:Cys1697Tyr	PROT:P38398	BRCA1	C	1697	Y	C1697Y	Likely pathogenic	1	6	129	3
MUT:BRCA1:Cys1787Tyr	PROT:P38398	BRCA1	C	1787	Y	C1787Y	Likely pathogenic	1	4	129	3
MUT:BRCA1:Cys1847Ser	PROT:P38398	BRCA1	C	1847	S	C1847S	Likely benign	0	2	129	57
MUT:BRCA1:Cys24Arg	PROT:P38398	BRCA1	C	24	R	C24R	Pathogenic/Likely pathogenic	1	3	129	8
MUT:BRCA1:Cys24Gly	PROT:P38398	BRCA1	C	24	G	C24G	Pathogenic/Likely pathogenic	1	3	129	8
MUT:BRCA1:Cys24Ser	PROT:P38398	BRCA1	C	24	S	C24S	Pathogenic/Likely pathogenic	1	3	129	8
MUT:BRCA1:Cys24Trp	PROT:P38398	BRCA1	C	24	W	C24W	Pathogenic	1	2	129	8
MUT:BRCA1:Cys24Tyr	PROT:P38398	BRCA1	C	24	Y	C24Y	Pathogenic/Likely pathogenic	1	3	129	8
MUT:BRCA1:Cys27Arg	PROT:P38398	BRCA1	C	27	R	C27R	Likely pathogenic	1	2	129	5
MUT:BRCA1:Cys27Gly	PROT:P38398	BRCA1	C	27	G	C27G	Likely pathogenic	1	2	129	5
MUT:BRCA1:Cys27Phe	PROT:P38398	BRCA1	C	27	F	C27F	Likely pathogenic	1	3	129	5
MUT:BRCA1:Cys27Trp	PROT:P38398	BRCA1	C	27	W	C27W	Likely pathogenic	1	3	129	5
MUT:BRCA1:Cys27Tyr	PROT:P38398	BRCA1	C	27	Y	C27Y	Likely pathogenic	1	4	129	5
MUT:BRCA1:Cys328Ser	PROT:P38398	BRCA1	C	328	S	C328S	Likely benign	0	1	129	19
MUT:BRCA1:Cys39Arg	PROT:P38398	BRCA1	C	39	R	C39R	Pathogenic	1	4	129	1
MUT:BRCA1:Cys39Gly	PROT:P38398	BRCA1	C	39	G	C39G	Pathogenic/Likely pathogenic	1	2	129	1
MUT:BRCA1:Cys39Phe	PROT:P38398	BRCA1	C	39	F	C39F	Pathogenic/Likely pathogenic	1	5	129	1
MUT:BRCA1:Cys39Ser	PROT:P38398	BRCA1	C	39	S	C39S	Pathogenic/Likely pathogenic	1	4	129	1
MUT:BRCA1:Cys39Trp	PROT:P38398	BRCA1	C	39	W	C39W	Pathogenic	1	2	129	1
MUT:BRCA1:Cys39Tyr	PROT:P38398	BRCA1	C	39	Y	C39Y	Pathogenic	1	5	129	1
MUT:BRCA1:Cys44Arg	PROT:P38398	BRCA1	C	44	R	C44R	Pathogenic	1	3	129	6
MUT:BRCA1:Cys44Phe	PROT:P38398	BRCA1	C	44	F	C44F	Pathogenic	1	4	129	6
MUT:BRCA1:Cys44Ser	PROT:P38398	BRCA1	C	44	S	C44S	Pathogenic	1	3	129	6
MUT:BRCA1:Cys44Trp	PROT:P38398	BRCA1	C	44	W	C44W	Likely pathogenic	1	2	129	6
MUT:BRCA1:Cys44Tyr	PROT:P38398	BRCA1	C	44	Y	C44Y	Pathogenic	1	4	129	6
MUT:BRCA1:Cys47Arg	PROT:P38398	BRCA1	C	47	R	C47R	Pathogenic/Likely pathogenic	1	3	129	3
MUT:BRCA1:Cys47Gly	PROT:P38398	BRCA1	C	47	G	C47G	Likely pathogenic	1	2	129	3
MUT:BRCA1:Cys47Phe	PROT:P38398	BRCA1	C	47	F	C47F	Pathogenic/Likely pathogenic	1	4	129	3
MUT:BRCA1:Cys47Ser	PROT:P38398	BRCA1	C	47	S	C47S	Pathogenic	1	1	129	3
MUT:BRCA1:Cys47Tyr	PROT:P38398	BRCA1	C	47	Y	C47Y	Pathogenic	1	3	129	3
MUT:BRCA1:Cys61Arg	PROT:P38398	BRCA1	C	61	R	C61R	Pathogenic/Likely pathogenic	1	3	129	4
MUT:BRCA1:Cys61Gly	PROT:P38398	BRCA1	C	61	G	C61G	Pathogenic	1	10	129	4
MUT:BRCA1:Cys61Ser	PROT:P38398	BRCA1	C	61	S	C61S	Pathogenic	1	1	129	4
MUT:BRCA1:Cys61Tyr	PROT:P38398	BRCA1	C	61	Y	C61Y	Pathogenic	1	3	129	4
MUT:BRCA1:Cys644Trp	PROT:P38398	BRCA1	C	644	W	C644W	Likely benign	0	2	129	12
MUT:BRCA1:Cys64Arg	PROT:P38398	BRCA1	C	64	R	C64R	Pathogenic	1	5	129	1
MUT:BRCA1:Cys64Gly	PROT:P38398	BRCA1	C	64	G	C64G	Pathogenic	1	3	129	1
MUT:BRCA1:Cys64Ser	PROT:P38398	BRCA1	C	64	S	C64S	Pathogenic/Likely pathogenic	1	3	129	1
MUT:BRCA1:Cys64Trp	PROT:P38398	BRCA1	C	64	W	C64W	Pathogenic/Likely pathogenic	1	3	129	1
MUT:BRCA1:Cys64Tyr	PROT:P38398	BRCA1	C	64	Y	C64Y	Pathogenic	1	6	129	1
MUT:BRCA1:Cys805Arg	PROT:P38398	BRCA1	C	805	R	C805R	Likely benign	0	2	129	2
MUT:BRCA1:Gln1144His	PROT:P38398	BRCA1	Q	1144	H	Q1144H	Likely benign	0	2	129	1
MUT:BRCA1:Gln1200His	PROT:P38398	BRCA1	Q	1200	H	Q1200H	Benign/Likely benign	0	7	129	2
MUT:BRCA1:Gln1273Arg	PROT:P38398	BRCA1	Q	1273	R	Q1273R	Likely benign	0	3	129	2
MUT:BRCA1:Gln12Leu	PROT:P38398	BRCA1	Q	12	L	Q12L	Likely benign	0	2	129	11
MUT:BRCA1:Gln1395His	PROT:P38398	BRCA1	Q	1395	H	Q1395H	Likely pathogenic	1	3	129	1
MUT:BRCA1:Gln1408His	PROT:P38398	BRCA1	Q	1408	H	Q1408H	Likely pathogenic	1	1	129	14
MUT:BRCA1:Gln155Glu	PROT:P38398	BRCA1	Q	155	E	Q155E	Benign	0	5	129	9
MUT:BRCA1:Gln169His	PROT:P38398	BRCA1	Q	169	H	Q169H	Likely benign	0	1	129	5
MUT:BRCA1:Gln1721His	PROT:P38398	BRCA1	Q	1721	H	Q1721H	Likely benign	0	2	129	1
MUT:BRCA1:Gln1811Arg	PROT:P38398	BRCA1	Q	1811	R	Q1811R	Pathogenic/Likely pathogenic	1	4	129	21
MUT:BRCA1:Gln1811Pro	PROT:P38398	BRCA1	Q	1811	P	Q1811P	Likely pathogenic	1	1	129	21
MUT:BRCA1:Gln1826Glu	PROT:P38398	BRCA1	Q	1826	E	Q1826E	Likely benign	0	2	129	36
MUT:BRCA1:Gln1846Arg	PROT:P38398	BRCA1	Q	1846	R	Q1846R	Likely benign	0	2	129	56
MUT:BRCA1:Gln1848Arg	PROT:P38398	BRCA1	Q	1848	R	Q1848R	Likely benign	0	2	129	58
MUT:BRCA1:Gln356Arg	PROT:P38398	BRCA1	Q	356	R	Q356R	Benign	0	6	129	1
MUT:BRCA1:Gln380Lys	PROT:P38398	BRCA1	Q	380	K	Q380K	Likely benign	0	1	129	15
MUT:BRCA1:Gln538Arg	PROT:P38398	BRCA1	Q	538	R	Q538R	Likely benign	0	1	129	13
MUT:BRCA1:Gln563His	PROT:P38398	BRCA1	Q	563	H	Q563H	Likely benign	0	1	129	3
MUT:BRCA1:Gln804His	PROT:P38398	BRCA1	Q	804	H	Q804H	Benign	0	4	129	1
MUT:BRCA1:Gln804Leu	PROT:P38398	BRCA1	Q	804	L	Q804L	Likely benign	0	1	129	1
MUT:BRCA1:Gln858Glu	PROT:P38398	BRCA1	Q	858	E	Q858E	Likely benign	0	1	129	10
MUT:BRCA1:Gln94His	PROT:P38398	BRCA1	Q	94	H	Q94H	Benign/Likely benign	0	3	129	20
MUT:BRCA1:Glu1005Lys	PROT:P38398	BRCA1	E	1005	K	E1005K	Likely benign	0	1	129	2
MUT:BRCA1:Glu1013Lys	PROT:P38398	BRCA1	E	1013	K	E1013K	Likely benign	0	2	129	4
MUT:BRCA1:Glu1038Gly	PROT:P38398	BRCA1	E	1038	G	E1038G	Benign	0	7	129	12
MUT:BRCA1:Glu1214Lys	PROT:P38398	BRCA1	E	1214	K	E1214K	Benign	0	4	129	2
MUT:BRCA1:Glu1219Asp	PROT:P38398	BRCA1	E	1219	D	E1219D	Benign	0	4	129	1
MUT:BRCA1:Glu1222Ala	PROT:P38398	BRCA1	E	1222	A	E1222A	Likely benign	0	1	129	4
MUT:BRCA1:Glu1250Lys	PROT:P38398	BRCA1	E	1250	K	E1250K	Benign	0	7	129	3
MUT:BRCA1:Glu1346Lys	PROT:P38398	BRCA1	E	1346	K	E1346K	Benign/Likely benign	0	6	129	4
MUT:BRCA1:Glu1373Asp	PROT:P38398	BRCA1	E	1373	D	E1373D	Likely benign	0	1	129	14
MUT:BRCA1:Glu1419Gln	PROT:P38398	BRCA1	E	1419	Q	E1419Q	Benign	0	4	129	4
MUT:BRCA1:Glu143Lys	PROT:P38398	BRCA1	E	143	K	E143K	Benign	0	6	129	20
MUT:BRCA1:Glu1559Gln	PROT:P38398	BRCA1	E	1559	Q	E1559Q	Pathogenic/Likely pathogenic	1	4	129	7
MUT:BRCA1:Glu1559Lys	PROT:P38398	BRCA1	E	1559	K	E1559K	Pathogenic	1	3	129	7
MUT:BRCA1:Glu1638Val	PROT:P38398	BRCA1	E	1638	V	E1638V	Benign	0	1	129	2
MUT:BRCA1:Glu1644Gln	PROT:P38398	BRCA1	E	1644	Q	E1644Q	Likely benign	0	2	129	2
MUT:BRCA1:Glu1682Lys	PROT:P38398	BRCA1	E	1682	K	E1682K	Benign	0	3	129	1
MUT:BRCA1:Glu1682Val	PROT:P38398	BRCA1	E	1682	V	E1682V	Likely pathogenic	1	2	129	1
MUT:BRCA1:Glu1849Lys	PROT:P38398	BRCA1	E	1849	K	E1849K	Likely benign	0	2	129	59
MUT:BRCA1:Glu33Lys	PROT:P38398	BRCA1	E	33	K	E33K	Likely benign	0	2	129	1
MUT:BRCA1:Glu362Asp	PROT:P38398	BRCA1	E	362	D	E362D	Likely benign	0	1	129	5
MUT:BRCA1:Glu368Asp	PROT:P38398	BRCA1	E	368	D	E368D	Likely benign	0	1	129	11
MUT:BRCA1:Glu391Gln	PROT:P38398	BRCA1	E	391	Q	E391Q	Likely benign	0	1	129	4
MUT:BRCA1:Glu421Lys	PROT:P38398	BRCA1	E	421	K	E421K	Likely benign	0	2	129	2
MUT:BRCA1:Glu565Asp	PROT:P38398	BRCA1	E	565	D	E565D	Likely benign	0	1	129	1
MUT:BRCA1:Glu597Lys	PROT:P38398	BRCA1	E	597	K	E597K	Benign	0	7	129	18
MUT:BRCA1:Glu736Ala	PROT:P38398	BRCA1	E	736	A	E736A	Benign/Likely benign	0	4	129	12
MUT:BRCA1:Glu736Gly	PROT:P38398	BRCA1	E	736	G	E736G	Likely benign	0	1	129	12
MUT:BRCA1:Glu75Lys	PROT:P38398	BRCA1	E	75	K	E75K	Likely benign	0	2	129	10
MUT:BRCA1:Glu797Asp	PROT:P38398	BRCA1	E	797	D	E797D	Likely benign	0	1	129	6
MUT:BRCA1:Glu842Gly	PROT:P38398	BRCA1	E	842	G	E842G	Benign	0	5	129	2
MUT:BRCA1:Glu879Lys	PROT:P38398	BRCA1	E	879	K	E879K	Likely benign	0	2	129	11
MUT:BRCA1:Glu880Asp	PROT:P38398	BRCA1	E	880	D	E880D	Likely benign	0	1	129	12
MUT:BRCA1:Glu880Lys	PROT:P38398	BRCA1	E	880	K	E880K	Likely benign	0	1	129	12
MUT:BRCA1:Glu881Gln	PROT:P38398	BRCA1	E	881	Q	E881Q	Benign	0	1	129	13
MUT:BRCA1:Glu962Lys	PROT:P38398	BRCA1	E	962	K	E962K	Benign	0	3	129	5
MUT:BRCA1:Gly1048Val	PROT:P38398	BRCA1	G	1048	V	G1048V	Benign	0	4	129	2
MUT:BRCA1:Gly1184Arg	PROT:P38398	BRCA1	G	1184	R	G1184R	Likely benign	0	1	129	3
MUT:BRCA1:Gly1201Ser	PROT:P38398	BRCA1	G	1201	S	G1201S	Benign/Likely benign	0	3	129	1
MUT:BRCA1:Gly1332Glu	PROT:P38398	BRCA1	G	1332	E	G1332E	Likely benign	0	1	129	2
MUT:BRCA1:Gly1515Arg	PROT:P38398	BRCA1	G	1515	R	G1515R	Likely benign	0	1	129	1
MUT:BRCA1:Gly1515Glu	PROT:P38398	BRCA1	G	1515	E	G1515E	Likely benign	0	3	129	1
MUT:BRCA1:Gly1543Glu	PROT:P38398	BRCA1	G	1543	E	G1543E	Likely benign	0	1	129	1
MUT:BRCA1:Gly1706Ala	PROT:P38398	BRCA1	G	1706	A	G1706A	Benign	0	4	129	6
MUT:BRCA1:Gly1706Arg	PROT:P38398	BRCA1	G	1706	R	G1706R	Pathogenic/Likely pathogenic	1	4	129	6
MUT:BRCA1:Gly1706Glu	PROT:P38398	BRCA1	G	1706	E	G1706E	Pathogenic	1	4	129	6
MUT:BRCA1:Gly1706Val	PROT:P38398	BRCA1	G	1706	V	G1706V	Likely pathogenic	1	2	129	6
MUT:BRCA1:Gly1738Arg	PROT:P38398	BRCA1	G	1738	R	G1738R	Pathogenic	1	4	129	16
MUT:BRCA1:Gly1738Glu	PROT:P38398	BRCA1	G	1738	E	G1738E	Pathogenic/Likely pathogenic	1	3	129	16
MUT:BRCA1:Gly1738Val	PROT:P38398	BRCA1	G	1738	V	G1738V	Pathogenic	1	2	129	16
MUT:BRCA1:Gly1743Glu	PROT:P38398	BRCA1	G	1743	E	G1743E	Likely pathogenic	1	3	129	21
MUT:BRCA1:Gly1748Arg	PROT:P38398	BRCA1	G	1748	R	G1748R	Likely pathogenic	1	3	129	26
MUT:BRCA1:Gly1748Asp	PROT:P38398	BRCA1	G	1748	D	G1748D	Pathogenic/Likely pathogenic	1	4	129	26
MUT:BRCA1:Gly1748Cys	PROT:P38398	BRCA1	G	1748	C	G1748C	Likely pathogenic	1	4	129	26
MUT:BRCA1:Gly1770Val	PROT:P38398	BRCA1	G	1770	V	G1770V	Pathogenic	1	5	129	7
MUT:BRCA1:Gly1788Ala	PROT:P38398	BRCA1	G	1788	A	G1788A	Likely pathogenic	1	2	129	2
MUT:BRCA1:Gly1788Cys	PROT:P38398	BRCA1	G	1788	C	G1788C	Likely pathogenic	1	4	129	2
MUT:BRCA1:Gly1788Ser	PROT:P38398	BRCA1	G	1788	S	G1788S	Likely pathogenic	1	1	129	2
MUT:BRCA1:Gly1788Val	PROT:P38398	BRCA1	G	1788	V	G1788V	Pathogenic	1	3	129	2
MUT:BRCA1:Gly1803Ala	PROT:P38398	BRCA1	G	1803	A	G1803A	Pathogenic/Likely pathogenic	1	3	129	13
MUT:BRCA1:Gly263Ala	PROT:P38398	BRCA1	G	263	A	G263A	Likely benign	0	2	129	31
MUT:BRCA1:Gly263Cys	PROT:P38398	BRCA1	G	263	C	G263C	Likely benign	0	2	129	31
MUT:BRCA1:Gly275Asp	PROT:P38398	BRCA1	G	275	D	G275D	Benign	0	5	129	19
MUT:BRCA1:Gly275Ser	PROT:P38398	BRCA1	G	275	S	G275S	Benign	0	3	129	19
MUT:BRCA1:Gly552Val	PROT:P38398	BRCA1	G	552	V	G552V	Likely benign	0	2	129	1
MUT:BRCA1:Gly890Val	PROT:P38398	BRCA1	G	890	V	G890V	Benign	0	4	129	22
MUT:BRCA1:Gly933Ala	PROT:P38398	BRCA1	G	933	A	G933A	Benign	0	4	129	34
MUT:BRCA1:Gly960Asp	PROT:P38398	BRCA1	G	960	D	G960D	Likely benign	0	2	129	7
MUT:BRCA1:His1197Tyr	PROT:P38398	BRCA1	H	1197	Y	H1197Y	Likely benign	0	1	129	1
MUT:BRCA1:His1244Gln	PROT:P38398	BRCA1	H	1244	Q	H1244Q	Likely benign	0	1	129	1
MUT:BRCA1:His1283Arg	PROT:P38398	BRCA1	H	1283	R	H1283R	Likely benign	0	4	129	3
MUT:BRCA1:His1284Arg	PROT:P38398	BRCA1	H	1284	R	H1284R	Likely benign	0	2	129	2
MUT:BRCA1:His1402Tyr	PROT:P38398	BRCA1	H	1402	Y	H1402Y	Benign	0	5	129	8
MUT:BRCA1:His1673Asp	PROT:P38398	BRCA1	H	1673	D	H1673D	Likely benign	0	2	129	6
MUT:BRCA1:His1673Tyr	PROT:P38398	BRCA1	H	1673	Y	H1673Y	Likely benign	0	2	129	6
MUT:BRCA1:His1686Arg	PROT:P38398	BRCA1	H	1686	R	H1686R	Pathogenic/Likely pathogenic	1	4	129	5
MUT:BRCA1:His1686Asp	PROT:P38398	BRCA1	H	1686	D	H1686D	Likely pathogenic	1	3	129	5
MUT:BRCA1:His1686Gln	PROT:P38398	BRCA1	H	1686	Q	H1686Q	Pathogenic/Likely pathogenic	1	4	129	5
MUT:BRCA1:His1686Tyr	PROT:P38398	BRCA1	H	1686	Y	H1686Y	Likely pathogenic	1	4	129	5
MUT:BRCA1:His1732Asp	PROT:P38398	BRCA1	H	1732	D	H1732D	Likely benign	0	2	129	10
MUT:BRCA1:His1746Asp	PROT:P38398	BRCA1	H	1746	D	H1746D	Likely pathogenic	1	5	129	24
MUT:BRCA1:His1805Tyr	PROT:P38398	BRCA1	H	1805	Y	H1805Y	Likely benign	0	2	129	15
MUT:BRCA1:His1862Leu	PROT:P38398	BRCA1	H	1862	L	H1862L	Benign/Likely benign	0	5	129	72
MUT:BRCA1:His239Arg	PROT:P38398	BRCA1	H	239	R	H239R	Benign	0	4	129	16
MUT:BRCA1:His318Leu	PROT:P38398	BRCA1	H	318	L	H318L	Likely pathogenic	1	1	129	9
MUT:BRCA1:His41Arg	PROT:P38398	BRCA1	H	41	R	H41R	Pathogenic	1	3	129	3
MUT:BRCA1:His41Asn	PROT:P38398	BRCA1	H	41	N	H41N	Likely pathogenic	1	4	129	3
MUT:BRCA1:His41Asp	PROT:P38398	BRCA1	H	41	D	H41D	Likely pathogenic	1	2	129	3
MUT:BRCA1:His41Leu	PROT:P38398	BRCA1	H	41	L	H41L	Likely pathogenic	1	5	129	3
MUT:BRCA1:His41Tyr	PROT:P38398	BRCA1	H	41	Y	H41Y	Pathogenic/Likely pathogenic	1	4	129	3
MUT:BRCA1:His476Arg	PROT:P38398	BRCA1	H	476	R	H476R	Benign/Likely benign	0	3	129	13
MUT:BRCA1:His839Tyr	PROT:P38398	BRCA1	H	839	Y	H839Y	Benign	0	1	129	1
MUT:BRCA1:His971Arg	PROT:P38398	BRCA1	H	971	R	H971R	Benign	0	4	129	4
MUT:BRCA1:His971Asn	PROT:P38398	BRCA1	H	971	N	H971N	Likely benign	0	2	129	4
MUT:BRCA1:Ile1044Val	PROT:P38398	BRCA1	I	1044	V	I1044V	Benign	0	4	129	6
MUT:BRCA1:Ile1058Thr	PROT:P38398	BRCA1	I	1058	T	I1058T	Likely benign	0	1	129	8
MUT:BRCA1:Ile1068Phe	PROT:P38398	BRCA1	I	1068	F	I1068F	Likely benign	0	1	129	11
MUT:BRCA1:Ile124Val	PROT:P38398	BRCA1	I	124	V	I124V	Benign	0	4	129	1
MUT:BRCA1:Ile1275Val	PROT:P38398	BRCA1	I	1275	V	I1275V	Benign	0	4	129	3
MUT:BRCA1:Ile1318Met	PROT:P38398	BRCA1	I	1318	M	I1318M	Likely benign	0	1	129	10
MUT:BRCA1:Ile1405Val	PROT:P38398	BRCA1	I	1405	V	I1405V	Likely benign	0	5	129	11
MUT:BRCA1:Ile1432Leu	PROT:P38398	BRCA1	I	1432	L	I1432L	Likely benign	0	2	129	9
MUT:BRCA1:Ile1593Leu	PROT:P38398	BRCA1	I	1593	L	I1593L	Likely benign	0	2	129	16
MUT:BRCA1:Ile1674Val	PROT:P38398	BRCA1	I	1674	V	I1674V	Likely benign	0	2	129	7
MUT:BRCA1:Ile1723Thr	PROT:P38398	BRCA1	I	1723	T	I1723T	Likely benign	0	3	129	1
MUT:BRCA1:Ile1766Asn	PROT:P38398	BRCA1	I	1766	N	I1766N	Pathogenic/Likely pathogenic	1	2	129	11
MUT:BRCA1:Ile1766Ser	PROT:P38398	BRCA1	I	1766	S	I1766S	Pathogenic	1	3	129	11
MUT:BRCA1:Ile1766Thr	PROT:P38398	BRCA1	I	1766	T	I1766T	Likely pathogenic	1	2	129	11
MUT:BRCA1:Ile1824Asn	PROT:P38398	BRCA1	I	1824	N	I1824N	Likely benign	0	2	129	34
MUT:BRCA1:Ile1858Leu	PROT:P38398	BRCA1	I	1858	L	I1858L	Benign	0	5	129	68
MUT:BRCA1:Ile21Leu	PROT:P38398	BRCA1	I	21	L	I21L	Likely benign	0	2	129	11
MUT:BRCA1:Ile26Asn	PROT:P38398	BRCA1	I	26	N	I26N	Pathogenic	1	1	129	6
MUT:BRCA1:Ile26Met	PROT:P38398	BRCA1	I	26	M	I26M	Likely benign	0	2	129	6
MUT:BRCA1:Ile379Met	PROT:P38398	BRCA1	I	379	M	I379M	Benign/Likely benign	0	10	129	16
MUT:BRCA1:Ile429Val	PROT:P38398	BRCA1	I	429	V	I429V	Likely benign	0	1	129	1
MUT:BRCA1:Ile482Thr	PROT:P38398	BRCA1	I	482	T	I482T	Likely benign	0	1	129	19
MUT:BRCA1:Ile492Val	PROT:P38398	BRCA1	I	492	V	I492V	Benign/Likely benign	0	2	129	17
MUT:BRCA1:Ile548Ser	PROT:P38398	BRCA1	I	548	S	I548S	Likely benign	0	1	129	3
MUT:BRCA1:Ile600Met	PROT:P38398	BRCA1	I	600	M	I600M	Likely benign	0	2	129	15
MUT:BRCA1:Ile783Val	PROT:P38398	BRCA1	I	783	V	I783V	Benign/Likely benign	0	4	129	20
MUT:BRCA1:Ile90Val	PROT:P38398	BRCA1	I	90	V	I90V	Likely benign	0	2	129	24
MUT:BRCA1:Ile925Leu	PROT:P38398	BRCA1	I	925	L	I925L	Benign	0	6	129	42
MUT:BRCA1:Leu1098Val	PROT:P38398	BRCA1	L	1098	V	L1098V	Likely benign	0	1	129	3
MUT:BRCA1:Leu1223Phe	PROT:P38398	BRCA1	L	1223	F	L1223F	Likely benign	0	2	129	5
MUT:BRCA1:Leu1261Phe	PROT:P38398	BRCA1	L	1261	F	L1261F	Likely benign	0	2	129	3
MUT:BRCA1:Leu1276Ser	PROT:P38398	BRCA1	L	1276	S	L1276S	Likely benign	0	1	129	2
MUT:BRCA1:Leu1276Val	PROT:P38398	BRCA1	L	1276	V	L1276V	Likely benign	0	1	129	2
MUT:BRCA1:Leu1351Ser	PROT:P38398	BRCA1	L	1351	S	L1351S	Likely benign	0	1	129	9
MUT:BRCA1:Leu138Arg	PROT:P38398	BRCA1	L	138	R	L138R	Likely benign	0	1	129	15
MUT:BRCA1:Leu1564Pro	PROT:P38398	BRCA1	L	1564	P	L1564P	Benign	0	6	129	8
MUT:BRCA1:Leu1605Phe	PROT:P38398	BRCA1	L	1605	F	L1605F	Likely benign	0	1	129	8
MUT:BRCA1:Leu1664Pro	PROT:P38398	BRCA1	L	1664	P	L1664P	Benign	0	4	129	3
MUT:BRCA1:Leu1705Pro	PROT:P38398	BRCA1	L	1705	P	L1705P	Pathogenic/Likely pathogenic	1	3	129	5
MUT:BRCA1:Leu1764Pro	PROT:P38398	BRCA1	L	1764	P	L1764P	Pathogenic	1	3	129	13
MUT:BRCA1:Leu1780Arg	PROT:P38398	BRCA1	L	1780	R	L1780R	Likely pathogenic	1	4	129	3
MUT:BRCA1:Leu1780Gln	PROT:P38398	BRCA1	L	1780	Q	L1780Q	Likely pathogenic	1	1	129	3
MUT:BRCA1:Leu1780Pro	PROT:P38398	BRCA1	L	1780	P	L1780P	Pathogenic/Likely pathogenic	1	4	129	3
MUT:BRCA1:Leu1786Pro	PROT:P38398	BRCA1	L	1786	P	L1786P	Pathogenic	1	6	129	4
MUT:BRCA1:Leu1795Arg	PROT:P38398	BRCA1	L	1795	R	L1795R	Likely benign	0	2	129	5
MUT:BRCA1:Leu1800Ile	PROT:P38398	BRCA1	L	1800	I	L1800I	Likely benign	0	2	129	10
MUT:BRCA1:Leu1839Ser	PROT:P38398	BRCA1	L	1839	S	L1839S	Pathogenic	1	3	129	49
MUT:BRCA1:Leu1844Arg	PROT:P38398	BRCA1	L	1844	R	L1844R	Benign	0	4	129	54
MUT:BRCA1:Leu1854Pro	PROT:P38398	BRCA1	L	1854	P	L1854P	Likely pathogenic	1	5	129	64
MUT:BRCA1:Leu218Val	PROT:P38398	BRCA1	L	218	V	L218V	Benign	0	1	129	2
MUT:BRCA1:Leu22Ser	PROT:P38398	BRCA1	L	22	S	L22S	Pathogenic	1	4	129	10
MUT:BRCA1:Leu246Val	PROT:P38398	BRCA1	L	246	V	L246V	Benign	0	6	129	23
MUT:BRCA1:Leu358Pro	PROT:P38398	BRCA1	L	358	P	L358P	Likely benign	0	1	129	1
MUT:BRCA1:Leu393Ser	PROT:P38398	BRCA1	L	393	S	L393S	Likely benign	0	1	129	2
MUT:BRCA1:Leu413Val	PROT:P38398	BRCA1	L	413	V	L413V	Likely benign	0	1	129	8
MUT:BRCA1:Leu474Ser	PROT:P38398	BRCA1	L	474	S	L474S	Likely benign	0	2	129	11
MUT:BRCA1:Leu512Phe	PROT:P38398	BRCA1	L	512	F	L512F	Benign	0	6	129	2
MUT:BRCA1:Leu668Phe	PROT:P38398	BRCA1	L	668	F	L668F	Benign	0	5	129	4
MUT:BRCA1:Leu892Ser	PROT:P38398	BRCA1	L	892	S	L892S	Likely benign	0	2	129	24
MUT:BRCA1:Leu954Gln	PROT:P38398	BRCA1	L	954	Q	L954Q	Likely benign	0	1	129	13
MUT:BRCA1:Leu95Ile	PROT:P38398	BRCA1	L	95	I	L95I	Likely benign	0	2	129	19
MUT:BRCA1:Leu95Pro	PROT:P38398	BRCA1	L	95	P	L95P	Likely pathogenic	1	2	129	19
MUT:BRCA1:Leu983Val	PROT:P38398	BRCA1	L	983	V	L983V	Likely benign	0	1	129	4
MUT:BRCA1:Lys1037Ile	PROT:P38398	BRCA1	K	1037	I	K1037I	Likely benign	0	1	129	13
MUT:BRCA1:Lys1109Asn	PROT:P38398	BRCA1	K	1109	N	K1109N	Benign	0	4	129	5
MUT:BRCA1:Lys1183Arg	PROT:P38398	BRCA1	K	1183	R	K1183R	Benign	0	6	129	4
MUT:BRCA1:Lys1233Arg	PROT:P38398	BRCA1	K	1233	R	K1233R	Likely benign	0	2	129	6
MUT:BRCA1:Lys1264Thr	PROT:P38398	BRCA1	K	1264	T	K1264T	Likely benign	0	1	129	0
MUT:BRCA1:Lys1606Asn	PROT:P38398	BRCA1	K	1606	N	K1606N	Likely benign	0	1	129	7
MUT:BRCA1:Lys1606Glu	PROT:P38398	BRCA1	K	1606	E	K1606E	Benign	0	5	129	7
MUT:BRCA1:Lys1636Asn	PROT:P38398	BRCA1	K	1636	N	K1636N	Likely benign	0	2	129	0
MUT:BRCA1:Lys1648Arg	PROT:P38398	BRCA1	K	1648	R	K1648R	Likely benign	0	2	129	6
MUT:BRCA1:Lys1648Thr	PROT:P38398	BRCA1	K	1648	T	K1648T	Likely benign	0	2	129	6
MUT:BRCA1:Lys1667Thr	PROT:P38398	BRCA1	K	1667	T	K1667T	Likely benign	0	2	129	0
MUT:BRCA1:Lys1702Asn	PROT:P38398	BRCA1	K	1702	N	K1702N	Likely pathogenic	1	2	129	2
MUT:BRCA1:Lys1702Gln	PROT:P38398	BRCA1	K	1702	Q	K1702Q	Likely pathogenic	1	2	129	2
MUT:BRCA1:Lys1711Glu	PROT:P38398	BRCA1	K	1711	E	K1711E	Likely pathogenic	1	1	129	9
MUT:BRCA1:Lys301Gln	PROT:P38398	BRCA1	K	301	Q	K301Q	Likely benign	0	3	129	7
MUT:BRCA1:Lys355Arg	PROT:P38398	BRCA1	K	355	R	K355R	Likely benign	0	2	129	2
MUT:BRCA1:Lys45Gln	PROT:P38398	BRCA1	K	45	Q	K45Q	Benign	0	3	129	5
MUT:BRCA1:Lys556Gln	PROT:P38398	BRCA1	K	556	Q	K556Q	Likely benign	0	2	129	5
MUT:BRCA1:Lys654Glu	PROT:P38398	BRCA1	K	654	E	K654E	Likely benign	0	2	129	18
MUT:BRCA1:Lys719Glu	PROT:P38398	BRCA1	K	719	E	K719E	Benign	0	6	129	8
MUT:BRCA1:Lys734Asn	PROT:P38398	BRCA1	K	734	N	K734N	Likely benign	0	1	129	14
MUT:BRCA1:Lys795Asn	PROT:P38398	BRCA1	K	795	N	K795N	Likely benign	0	1	129	8
MUT:BRCA1:Lys820Glu	PROT:P38398	BRCA1	K	820	E	K820E	Benign	0	4	129	0
MUT:BRCA1:Lys862Glu	PROT:P38398	BRCA1	K	862	E	K862E	Benign	0	6	129	6
MUT:BRCA1:Lys912Arg	PROT:P38398	BRCA1	K	912	R	K912R	Likely benign	0	3	129	44
MUT:BRCA1:Lys987Met	PROT:P38398	BRCA1	K	987	M	K987M	Likely benign	0	1	129	0
MUT:BRCA1:Met1008Ile	PROT:P38398	BRCA1	M	1008	I	M1008I	Benign	0	6	129	1
MUT:BRCA1:Met1008Val	PROT:P38398	BRCA1	M	1008	V	M1008V	Benign	0	5	129	1
MUT:BRCA1:Met1361Leu	PROT:P38398	BRCA1	M	1361	L	M1361L	Benign	0	3	129	19
MUT:BRCA1:Met1411Thr	PROT:P38398	BRCA1	M	1411	T	M1411T	Likely pathogenic	1	3	129	12
MUT:BRCA1:Met1628Thr	PROT:P38398	BRCA1	M	1628	T	M1628T	Benign	0	6	129	8
MUT:BRCA1:Met1652Ile	PROT:P38398	BRCA1	M	1652	I	M1652I	Benign	0	6	129	10
MUT:BRCA1:Met1652Thr	PROT:P38398	BRCA1	M	1652	T	M1652T	Benign	0	4	129	10
MUT:BRCA1:Met1663Arg	PROT:P38398	BRCA1	M	1663	R	M1663R	Likely pathogenic	1	1	129	4
MUT:BRCA1:Met1689Arg	PROT:P38398	BRCA1	M	1689	R	M1689R	Pathogenic/Likely pathogenic	1	4	129	8
MUT:BRCA1:Met1689Lys	PROT:P38398	BRCA1	M	1689	K	M1689K	Likely pathogenic	1	3	129	8
MUT:BRCA1:Met1775Arg	PROT:P38398	BRCA1	M	1775	R	M1775R	Pathogenic	1	7	129	2
MUT:BRCA1:Met1775Lys	PROT:P38398	BRCA1	M	1775	K	M1775K	Pathogenic	1	3	129	2
MUT:BRCA1:Met1775Val	PROT:P38398	BRCA1	M	1775	V	M1775V	Likely pathogenic	1	2	129	2
MUT:BRCA1:Met1827Leu	PROT:P38398	BRCA1	M	1827	L	M1827L	Benign	0	2	129	37
MUT:BRCA1:Met18Arg	PROT:P38398	BRCA1	M	18	R	M18R	Likely pathogenic	1	2	129	14
MUT:BRCA1:Met18Lys	PROT:P38398	BRCA1	M	18	K	M18K	Pathogenic/Likely pathogenic	1	3	129	14
MUT:BRCA1:Met18Thr	PROT:P38398	BRCA1	M	18	T	M18T	Pathogenic	1	4	129	14
MUT:BRCA1:Met1Arg	PROT:P38398	BRCA1	M	1	R	M1R	Pathogenic	1	3	129	0
MUT:BRCA1:Met1Ile	PROT:P38398	BRCA1	M	1	I	M1I	Pathogenic	1	3	129	0
MUT:BRCA1:Met1Lys	PROT:P38398	BRCA1	M	1	K	M1K	Pathogenic	1	1	129	0
MUT:BRCA1:Met1Thr	PROT:P38398	BRCA1	M	1	T	M1T	Pathogenic	1	3	129	0
MUT:BRCA1:Met1Val	PROT:P38398	BRCA1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	7	129	0
MUT:BRCA1:Met297Ile	PROT:P38398	BRCA1	M	297	I	M297I	Benign	0	3	129	3
MUT:BRCA1:Met751Val	PROT:P38398	BRCA1	M	751	V	M751V	Likely benign	0	1	129	2
MUT:BRCA1:Phe1662Ser	PROT:P38398	BRCA1	F	1662	S	F1662S	Benign	0	3	129	5
MUT:BRCA1:Phe1668Val	PROT:P38398	BRCA1	F	1668	V	F1668V	Likely benign	0	1	129	1
MUT:BRCA1:Phe1695Val	PROT:P38398	BRCA1	F	1695	V	F1695V	Pathogenic	1	1	129	5
MUT:BRCA1:Phe1734Ile	PROT:P38398	BRCA1	F	1734	I	F1734I	Likely pathogenic	1	5	129	12
MUT:BRCA1:Phe1734Ser	PROT:P38398	BRCA1	F	1734	S	F1734S	Pathogenic	1	3	129	12
MUT:BRCA1:Phe1761Cys	PROT:P38398	BRCA1	F	1761	C	F1761C	Likely pathogenic	1	3	129	16
MUT:BRCA1:Phe1761Ser	PROT:P38398	BRCA1	F	1761	S	F1761S	Pathogenic	1	4	129	16
MUT:BRCA1:Phe1798Ile	PROT:P38398	BRCA1	F	1798	I	F1798I	Likely benign	0	1	129	8
MUT:BRCA1:Phe486Leu	PROT:P38398	BRCA1	F	486	L	F486L	Benign	0	7	129	23
MUT:BRCA1:Phe517Leu	PROT:P38398	BRCA1	F	517	L	F517L	Likely benign	0	1	129	2
MUT:BRCA1:Phe901Leu	PROT:P38398	BRCA1	F	901	L	F901L	Likely benign	0	1	129	33
MUT:BRCA1:Phe952Leu	PROT:P38398	BRCA1	F	952	L	F952L	Likely benign	0	1	129	15
MUT:BRCA1:Pro1020Ser	PROT:P38398	BRCA1	P	1020	S	P1020S	Likely benign	0	2	129	11
MUT:BRCA1:Pro1078Leu	PROT:P38398	BRCA1	P	1078	L	P1078L	Likely benign	0	1	129	1
MUT:BRCA1:Pro1099Leu	PROT:P38398	BRCA1	P	1099	L	P1099L	Benign	0	6	129	2
MUT:BRCA1:Pro1106Thr	PROT:P38398	BRCA1	P	1106	T	P1106T	Likely benign	0	1	129	2
MUT:BRCA1:Pro1150Ser	PROT:P38398	BRCA1	P	1150	S	P1150S	Benign	0	8	129	7
MUT:BRCA1:Pro1238Leu	PROT:P38398	BRCA1	P	1238	L	P1238L	Benign	0	6	129	1
MUT:BRCA1:Pro142His	PROT:P38398	BRCA1	P	142	H	P142H	Benign	0	4	129	19
MUT:BRCA1:Pro1445Ala	PROT:P38398	BRCA1	P	1445	A	P1445A	Likely benign	0	1	129	12
MUT:BRCA1:Pro1614Ser	PROT:P38398	BRCA1	P	1614	S	P1614S	Benign	0	4	129	1
MUT:BRCA1:Pro1637Leu	PROT:P38398	BRCA1	P	1637	L	P1637L	Benign	0	5	129	1
MUT:BRCA1:Pro1749Arg	PROT:P38398	BRCA1	P	1749	R	P1749R	Pathogenic	1	1	129	27
MUT:BRCA1:Pro1749Thr	PROT:P38398	BRCA1	P	1749	T	P1749T	Likely benign	0	2	129	27
MUT:BRCA1:Pro1812Ala	PROT:P38398	BRCA1	P	1812	A	P1812A	Pathogenic/Likely pathogenic	1	4	129	22
MUT:BRCA1:Pro1831Leu	PROT:P38398	BRCA1	P	1831	L	P1831L	Likely benign	0	2	129	41
MUT:BRCA1:Pro1831Ser	PROT:P38398	BRCA1	P	1831	S	P1831S	Likely benign	0	2	129	41
MUT:BRCA1:Pro1856Ser	PROT:P38398	BRCA1	P	1856	S	P1856S	Likely benign	0	4	129	66
MUT:BRCA1:Pro1859Arg	PROT:P38398	BRCA1	P	1859	R	P1859R	Benign	0	4	129	69
MUT:BRCA1:Pro25Leu	PROT:P38398	BRCA1	P	25	L	P25L	Likely pathogenic	1	5	129	7
MUT:BRCA1:Pro334His	PROT:P38398	BRCA1	P	334	H	P334H	Likely benign	0	3	129	23
MUT:BRCA1:Pro334Leu	PROT:P38398	BRCA1	P	334	L	P334L	Benign	0	4	129	23
MUT:BRCA1:Pro346Ser	PROT:P38398	BRCA1	P	346	S	P346S	Benign	0	5	129	11
MUT:BRCA1:Pro34Arg	PROT:P38398	BRCA1	P	34	R	P34R	Likely pathogenic	1	2	129	2
MUT:BRCA1:Pro34Leu	PROT:P38398	BRCA1	P	34	L	P34L	Likely pathogenic	1	4	129	2
MUT:BRCA1:Pro34Ser	PROT:P38398	BRCA1	P	34	S	P34S	Likely pathogenic	1	4	129	2
MUT:BRCA1:Pro371Ser	PROT:P38398	BRCA1	P	371	S	P371S	Likely benign	0	1	129	14
MUT:BRCA1:Pro490Ser	PROT:P38398	BRCA1	P	490	S	P490S	Likely benign	0	1	129	19
MUT:BRCA1:Pro568Leu	PROT:P38398	BRCA1	P	568	L	P568L	Benign	0	3	129	2
MUT:BRCA1:Pro633Thr	PROT:P38398	BRCA1	P	633	T	P633T	Likely benign	0	2	129	1
MUT:BRCA1:Pro634Arg	PROT:P38398	BRCA1	P	634	R	P634R	Likely benign	0	2	129	2
MUT:BRCA1:Pro727Leu	PROT:P38398	BRCA1	P	727	L	P727L	Benign	0	3	129	16
MUT:BRCA1:Pro798Ala	PROT:P38398	BRCA1	P	798	A	P798A	Likely benign	0	2	129	5
MUT:BRCA1:Pro832Leu	PROT:P38398	BRCA1	P	832	L	P832L	Likely benign	0	1	129	2
MUT:BRCA1:Pro871Leu	PROT:P38398	BRCA1	P	871	L	P871L	Benign	0	6	129	3
MUT:BRCA1:Pro897Ala	PROT:P38398	BRCA1	P	897	A	P897A	Likely benign	0	1	129	29
MUT:BRCA1:Pro919Thr	PROT:P38398	BRCA1	P	919	T	P919T	Likely benign	0	1	129	48
MUT:BRCA1:Pro968Ala	PROT:P38398	BRCA1	P	968	A	P968A	Likely benign	0	1	129	1
MUT:BRCA1:Pro981Ala	PROT:P38398	BRCA1	P	981	A	P981A	Likely benign	0	1	129	6
MUT:BRCA1:Ser1007Pro	PROT:P38398	BRCA1	S	1007	P	S1007P	Likely benign	0	1	129	0
MUT:BRCA1:Ser1024Arg	PROT:P38398	BRCA1	S	1024	R	S1024R	Likely benign	0	3	129	15
MUT:BRCA1:Ser1040Asn	PROT:P38398	BRCA1	S	1040	N	S1040N	Benign	0	4	129	10
MUT:BRCA1:Ser1064Asn	PROT:P38398	BRCA1	S	1064	N	S1064N	Likely benign	0	1	129	14
MUT:BRCA1:Ser1101Asn	PROT:P38398	BRCA1	S	1101	N	S1101N	Benign	0	3	129	0
MUT:BRCA1:Ser1125Tyr	PROT:P38398	BRCA1	S	1125	Y	S1125Y	Likely benign	0	2	129	18
MUT:BRCA1:Ser1139Ile	PROT:P38398	BRCA1	S	1139	I	S1139I	Benign	0	4	129	4
MUT:BRCA1:Ser1140Gly	PROT:P38398	BRCA1	S	1140	G	S1140G	Benign	0	6	129	3
MUT:BRCA1:Ser1174Tyr	PROT:P38398	BRCA1	S	1174	Y	S1174Y	Likely benign	0	1	129	0
MUT:BRCA1:Ser1218Cys	PROT:P38398	BRCA1	S	1218	C	S1218C	Likely benign	0	2	129	0
MUT:BRCA1:Ser1241Cys	PROT:P38398	BRCA1	S	1241	C	S1241C	Likely benign	0	2	129	2
MUT:BRCA1:Ser1253Tyr	PROT:P38398	BRCA1	S	1253	Y	S1253Y	Likely benign	0	2	129	0
MUT:BRCA1:Ser1266Arg	PROT:P38398	BRCA1	S	1266	R	S1266R	Likely benign	0	3	129	0
MUT:BRCA1:Ser1266Thr	PROT:P38398	BRCA1	S	1266	T	S1266T	Benign	0	4	129	0
MUT:BRCA1:Ser1320Pro	PROT:P38398	BRCA1	S	1320	P	S1320P	Benign	0	1	129	8
MUT:BRCA1:Ser1330Asn	PROT:P38398	BRCA1	S	1330	N	S1330N	Likely benign	0	1	129	0
MUT:BRCA1:Ser1387Pro	PROT:P38398	BRCA1	S	1387	P	S1387P	Likely benign	0	6	129	0
MUT:BRCA1:Ser1512Ile	PROT:P38398	BRCA1	S	1512	I	S1512I	Benign	0	5	129	2
MUT:BRCA1:Ser153Arg	PROT:P38398	BRCA1	S	153	R	S153R	Likely benign	0	3	129	11
MUT:BRCA1:Ser1577Pro	PROT:P38398	BRCA1	S	1577	P	S1577P	Benign/Likely benign	0	5	129	0
MUT:BRCA1:Ser1613Cys	PROT:P38398	BRCA1	S	1613	C	S1613C	Benign/Likely benign	0	5	129	0
MUT:BRCA1:Ser1613Gly	PROT:P38398	BRCA1	S	1613	G	S1613G	Benign	0	7	129	0
MUT:BRCA1:Ser1631Ile	PROT:P38398	BRCA1	S	1631	I	S1631I	Likely benign	0	1	129	5
MUT:BRCA1:Ser1633Gly	PROT:P38398	BRCA1	S	1633	G	S1633G	Likely benign	0	2	129	3
MUT:BRCA1:Ser1642Leu	PROT:P38398	BRCA1	S	1642	L	S1642L	Likely benign	0	2	129	0
MUT:BRCA1:Ser1655Phe	PROT:P38398	BRCA1	S	1655	F	S1655F	Pathogenic/Likely pathogenic	1	4	129	12
MUT:BRCA1:Ser1655Pro	PROT:P38398	BRCA1	S	1655	P	S1655P	Likely pathogenic	1	6	129	12
MUT:BRCA1:Ser1715Arg	PROT:P38398	BRCA1	S	1715	R	S1715R	Pathogenic	1	3	129	5
MUT:BRCA1:Ser1715Asn	PROT:P38398	BRCA1	S	1715	N	S1715N	Pathogenic	1	3	129	5
MUT:BRCA1:Ser1715Cys	PROT:P38398	BRCA1	S	1715	C	S1715C	Likely pathogenic	1	4	129	5
MUT:BRCA1:Ser1722Pro	PROT:P38398	BRCA1	S	1722	P	S1722P	Likely pathogenic	1	2	129	0
MUT:BRCA1:Ser1841Arg	PROT:P38398	BRCA1	S	1841	R	S1841R	Likely pathogenic	1	4	129	51
MUT:BRCA1:Ser1841Ile	PROT:P38398	BRCA1	S	1841	I	S1841I	Likely pathogenic	1	3	129	51
MUT:BRCA1:Ser186Tyr	PROT:P38398	BRCA1	S	186	Y	S186Y	Benign	0	7	129	0
MUT:BRCA1:Ser229Tyr	PROT:P38398	BRCA1	S	229	Y	S229Y	Likely benign	0	1	129	6
MUT:BRCA1:Ser264Cys	PROT:P38398	BRCA1	S	264	C	S264C	Likely benign	0	2	129	30
MUT:BRCA1:Ser288Arg	PROT:P38398	BRCA1	S	288	R	S288R	Likely benign	0	1	129	6
MUT:BRCA1:Ser308Arg	PROT:P38398	BRCA1	S	308	R	S308R	Likely benign	0	1	129	0
MUT:BRCA1:Ser316Gly	PROT:P38398	BRCA1	S	316	G	S316G	Benign	0	5	129	7
MUT:BRCA1:Ser377Asn	PROT:P38398	BRCA1	S	377	N	S377N	Likely benign	0	2	129	18
MUT:BRCA1:Ser387Thr	PROT:P38398	BRCA1	S	387	T	S387T	Benign	0	3	129	8
MUT:BRCA1:Ser403Phe	PROT:P38398	BRCA1	S	403	F	S403F	Likely benign	0	2	129	0
MUT:BRCA1:Ser423Cys	PROT:P38398	BRCA1	S	423	C	S423C	Likely benign	0	1	129	0
MUT:BRCA1:Ser59Ala	PROT:P38398	BRCA1	S	59	A	S59A	Likely benign	0	2	129	3
MUT:BRCA1:Ser643Gly	PROT:P38398	BRCA1	S	643	G	S643G	Benign	0	3	129	11
MUT:BRCA1:Ser694Arg	PROT:P38398	BRCA1	S	694	R	S694R	Likely benign	0	1	129	0
MUT:BRCA1:Ser784Leu	PROT:P38398	BRCA1	S	784	L	S784L	Benign	0	5	129	19
MUT:BRCA1:Ser850Gly	PROT:P38398	BRCA1	S	850	G	S850G	Likely benign	0	1	129	10
MUT:BRCA1:Ser886Pro	PROT:P38398	BRCA1	S	886	P	S886P	Likely benign	0	1	129	18
MUT:BRCA1:Thr1022Arg	PROT:P38398	BRCA1	T	1022	R	T1022R	Likely benign	0	1	129	13
MUT:BRCA1:Thr1242Ala	PROT:P38398	BRCA1	T	1242	A	T1242A	Benign	0	3	129	3
MUT:BRCA1:Thr1246Ser	PROT:P38398	BRCA1	T	1246	S	T1246S	Likely benign	0	1	129	0
MUT:BRCA1:Thr1249Ile	PROT:P38398	BRCA1	T	1249	I	T1249I	Likely benign	0	1	129	3
MUT:BRCA1:Thr1256Lys	PROT:P38398	BRCA1	T	1256	K	T1256K	Likely benign	0	1	129	2
MUT:BRCA1:Thr1289Lys	PROT:P38398	BRCA1	T	1289	K	T1289K	Likely benign	0	1	129	0
MUT:BRCA1:Thr1312Ser	PROT:P38398	BRCA1	T	1312	S	T1312S	Likely benign	0	1	129	16
MUT:BRCA1:Thr1349Met	PROT:P38398	BRCA1	T	1349	M	T1349M	Benign	0	5	129	7
MUT:BRCA1:Thr1561Ile	PROT:P38398	BRCA1	T	1561	I	T1561I	Benign/Likely benign	0	7	129	9
MUT:BRCA1:Thr1640Ala	PROT:P38398	BRCA1	T	1640	A	T1640A	Likely benign	0	2	129	2
MUT:BRCA1:Thr1643Ser	PROT:P38398	BRCA1	T	1643	S	T1643S	Likely benign	0	2	129	1
MUT:BRCA1:Thr1675Ile	PROT:P38398	BRCA1	T	1675	I	T1675I	Benign	0	3	129	6
MUT:BRCA1:Thr1677Asn	PROT:P38398	BRCA1	T	1677	N	T1677N	Likely benign	0	2	129	4
MUT:BRCA1:Thr1677Ser	PROT:P38398	BRCA1	T	1677	S	T1677S	Likely benign	0	2	129	4
MUT:BRCA1:Thr1681Ala	PROT:P38398	BRCA1	T	1681	A	T1681A	Likely benign	0	2	129	0
MUT:BRCA1:Thr1684Ala	PROT:P38398	BRCA1	T	1684	A	T1684A	Likely benign	0	2	129	3
MUT:BRCA1:Thr1685Ala	PROT:P38398	BRCA1	T	1685	A	T1685A	Pathogenic	1	3	129	4
MUT:BRCA1:Thr1685Ile	PROT:P38398	BRCA1	T	1685	I	T1685I	Pathogenic	1	4	129	4
MUT:BRCA1:Thr1691Arg	PROT:P38398	BRCA1	T	1691	R	T1691R	Likely pathogenic	1	3	129	9
MUT:BRCA1:Thr1691Ile	PROT:P38398	BRCA1	T	1691	I	T1691I	Pathogenic/Likely pathogenic	1	5	129	9
MUT:BRCA1:Thr1691Lys	PROT:P38398	BRCA1	T	1691	K	T1691K	Pathogenic/Likely pathogenic	1	4	129	9
MUT:BRCA1:Thr1700Ala	PROT:P38398	BRCA1	T	1700	A	T1700A	Likely pathogenic	1	4	129	0
MUT:BRCA1:Thr1720Ala	PROT:P38398	BRCA1	T	1720	A	T1720A	Benign	0	6	129	0
MUT:BRCA1:Thr1816Ala	PROT:P38398	BRCA1	T	1816	A	T1816A	Likely benign	0	2	129	26
MUT:BRCA1:Thr1816Arg	PROT:P38398	BRCA1	T	1816	R	T1816R	Likely benign	0	2	129	26
MUT:BRCA1:Thr231Lys	PROT:P38398	BRCA1	T	231	K	T231K	Likely benign	0	1	129	8
MUT:BRCA1:Thr248Asn	PROT:P38398	BRCA1	T	248	N	T248N	Likely benign	0	2	129	25
MUT:BRCA1:Thr276Arg	PROT:P38398	BRCA1	T	276	R	T276R	Benign	0	4	129	18
MUT:BRCA1:Thr327Ile	PROT:P38398	BRCA1	T	327	I	T327I	Likely benign	0	1	129	18
MUT:BRCA1:Thr333Ala	PROT:P38398	BRCA1	T	333	A	T333A	Benign	0	3	129	24
MUT:BRCA1:Thr336Ile	PROT:P38398	BRCA1	T	336	I	T336I	Likely benign	0	1	129	21
MUT:BRCA1:Thr37Ala	PROT:P38398	BRCA1	T	37	A	T37A	Likely pathogenic	1	1	129	1
MUT:BRCA1:Thr37Arg	PROT:P38398	BRCA1	T	37	R	T37R	Pathogenic/Likely pathogenic	1	3	129	1
MUT:BRCA1:Thr37Lys	PROT:P38398	BRCA1	T	37	K	T37K	Pathogenic	1	3	129	1
MUT:BRCA1:Thr499Lys	PROT:P38398	BRCA1	T	499	K	T499K	Likely benign	0	1	129	10
MUT:BRCA1:Thr539Met	PROT:P38398	BRCA1	T	539	M	T539M	Benign	0	5	129	12
MUT:BRCA1:Thr582Ala	PROT:P38398	BRCA1	T	582	A	T582A	Likely benign	0	2	129	6
MUT:BRCA1:Thr617Asn	PROT:P38398	BRCA1	T	617	N	T617N	Likely benign	0	1	129	0
MUT:BRCA1:Thr77Ala	PROT:P38398	BRCA1	T	77	A	T77A	Likely benign	0	2	129	12
MUT:BRCA1:Thr790Ile	PROT:P38398	BRCA1	T	790	I	T790I	Likely benign	0	1	129	13
MUT:BRCA1:Thr826Lys	PROT:P38398	BRCA1	T	826	K	T826K	Benign	0	7	129	4
MUT:BRCA1:Thr967Ser	PROT:P38398	BRCA1	T	967	S	T967S	Likely benign	0	2	129	0
MUT:BRCA1:Thr97Ser	PROT:P38398	BRCA1	T	97	S	T97S	Likely benign	0	2	129	17
MUT:BRCA1:Trp1712Gly	PROT:P38398	BRCA1	W	1712	G	W1712G	Likely pathogenic	1	2	129	8
MUT:BRCA1:Trp1718Cys	PROT:P38398	BRCA1	W	1718	C	W1718C	Pathogenic/Likely pathogenic	1	4	129	2
MUT:BRCA1:Trp1718Gly	PROT:P38398	BRCA1	W	1718	G	W1718G	Likely pathogenic	1	4	129	2
MUT:BRCA1:Trp1837Arg	PROT:P38398	BRCA1	W	1837	R	W1837R	Pathogenic	1	3	129	47
MUT:BRCA1:Trp1837Cys	PROT:P38398	BRCA1	W	1837	C	W1837C	Pathogenic/Likely pathogenic	1	3	129	47
MUT:BRCA1:Trp1837Gly	PROT:P38398	BRCA1	W	1837	G	W1837G	Pathogenic	1	5	129	47
MUT:BRCA1:Trp372Cys	PROT:P38398	BRCA1	W	372	C	W372C	Likely benign	0	1	129	15
MUT:BRCA1:Tyr105Cys	PROT:P38398	BRCA1	Y	105	C	Y105C	Benign	0	7	129	9
MUT:BRCA1:Tyr1113His	PROT:P38398	BRCA1	Y	1113	H	Y1113H	Likely benign	0	1	129	9
MUT:BRCA1:Tyr1202His	PROT:P38398	BRCA1	Y	1202	H	Y1202H	Likely benign	0	1	129	0
MUT:BRCA1:Tyr1666Asn	PROT:P38398	BRCA1	Y	1666	N	Y1666N	Likely benign	0	2	129	1
MUT:BRCA1:Tyr1703Asp	PROT:P38398	BRCA1	Y	1703	D	Y1703D	Likely pathogenic	1	2	129	3
MUT:BRCA1:Tyr1703Cys	PROT:P38398	BRCA1	Y	1703	C	Y1703C	Likely pathogenic	1	5	129	3
MUT:BRCA1:Tyr179Cys	PROT:P38398	BRCA1	Y	179	C	Y179C	Benign	0	7	129	5
MUT:BRCA1:Tyr179Phe	PROT:P38398	BRCA1	Y	179	F	Y179F	Likely benign	0	2	129	5
MUT:BRCA1:Tyr1853Asn	PROT:P38398	BRCA1	Y	1853	N	Y1853N	Likely pathogenic	1	2	129	63
MUT:BRCA1:Tyr1853Cys	PROT:P38398	BRCA1	Y	1853	C	Y1853C	Pathogenic/Likely pathogenic	1	4	129	63
MUT:BRCA1:Tyr1853His	PROT:P38398	BRCA1	Y	1853	H	Y1853H	Likely pathogenic	1	2	129	63
MUT:BRCA1:Tyr1853Ser	PROT:P38398	BRCA1	Y	1853	S	Y1853S	Likely pathogenic	1	2	129	63
MUT:BRCA1:Tyr465Asp	PROT:P38398	BRCA1	Y	465	D	Y465D	Likely benign	0	2	129	2
MUT:BRCA1:Tyr655Asp	PROT:P38398	BRCA1	Y	655	D	Y655D	Likely benign	0	2	129	17
MUT:BRCA1:Tyr856His	PROT:P38398	BRCA1	Y	856	H	Y856H	Benign	0	8	129	12
MUT:BRCA1:Val1047Ala	PROT:P38398	BRCA1	V	1047	A	V1047A	Likely benign	0	2	129	3
MUT:BRCA1:Val1176Asp	PROT:P38398	BRCA1	V	1176	D	V1176D	Likely benign	0	2	129	2
MUT:BRCA1:Val1181Ala	PROT:P38398	BRCA1	V	1181	A	V1181A	Likely benign	0	2	129	2
MUT:BRCA1:Val1181Ile	PROT:P38398	BRCA1	V	1181	I	V1181I	Benign	0	4	129	2
MUT:BRCA1:Val11Gly	PROT:P38398	BRCA1	V	11	G	V11G	Likely pathogenic	1	4	129	10
MUT:BRCA1:Val11Ile	PROT:P38398	BRCA1	V	11	I	V11I	Likely benign	0	1	129	10
MUT:BRCA1:Val1247Ile	PROT:P38398	BRCA1	V	1247	I	V1247I	Benign	0	5	129	1
MUT:BRCA1:Val1378Ile	PROT:P38398	BRCA1	V	1378	I	V1378I	Benign	0	6	129	9
MUT:BRCA1:Val14Ile	PROT:P38398	BRCA1	V	14	I	V14I	Likely benign	0	2	129	13
MUT:BRCA1:Val1534Met	PROT:P38398	BRCA1	V	1534	M	V1534M	Benign	0	4	129	8
MUT:BRCA1:Val1602Leu	PROT:P38398	BRCA1	V	1602	L	V1602L	Likely benign	0	1	129	11
MUT:BRCA1:Val1646Asp	PROT:P38398	BRCA1	V	1646	D	V1646D	Likely benign	0	2	129	4
MUT:BRCA1:Val1646Ile	PROT:P38398	BRCA1	V	1646	I	V1646I	Likely benign	0	2	129	4
MUT:BRCA1:Val1646Phe	PROT:P38398	BRCA1	V	1646	F	V1646F	Likely benign	0	2	129	4
MUT:BRCA1:Val1653Ala	PROT:P38398	BRCA1	V	1653	A	V1653A	Likely benign	0	2	129	11
MUT:BRCA1:Val1653Glu	PROT:P38398	BRCA1	V	1653	E	V1653E	Likely pathogenic	1	2	129	11
MUT:BRCA1:Val1654Ala	PROT:P38398	BRCA1	V	1654	A	V1654A	Likely benign	0	1	129	12
MUT:BRCA1:Val1665Gly	PROT:P38398	BRCA1	V	1665	G	V1665G	Likely benign	0	2	129	2
MUT:BRCA1:Val1687Ala	PROT:P38398	BRCA1	V	1687	A	V1687A	Likely benign	0	1	129	6
MUT:BRCA1:Val1687Gly	PROT:P38398	BRCA1	V	1687	G	V1687G	Likely pathogenic	1	5	129	6
MUT:BRCA1:Val1687Ile	PROT:P38398	BRCA1	V	1687	I	V1687I	Likely benign	0	2	129	6
MUT:BRCA1:Val1688Phe	PROT:P38398	BRCA1	V	1688	F	V1688F	Likely pathogenic	1	2	129	7
MUT:BRCA1:Val1713Ala	PROT:P38398	BRCA1	V	1713	A	V1713A	Likely pathogenic	1	5	129	7
MUT:BRCA1:Val1713Gly	PROT:P38398	BRCA1	V	1713	G	V1713G	Pathogenic	1	2	129	7
MUT:BRCA1:Val1713Leu	PROT:P38398	BRCA1	V	1713	L	V1713L	Likely pathogenic	1	2	129	7
MUT:BRCA1:Val1714Gly	PROT:P38398	BRCA1	V	1714	G	V1714G	Pathogenic/Likely pathogenic	1	4	129	6
MUT:BRCA1:Val1714Phe	PROT:P38398	BRCA1	V	1714	F	V1714F	Likely pathogenic	1	4	129	6
MUT:BRCA1:Val1719Gly	PROT:P38398	BRCA1	V	1719	G	V1719G	Likely pathogenic	1	2	129	1
MUT:BRCA1:Val1736Ala	PROT:P38398	BRCA1	V	1736	A	V1736A	Pathogenic	1	4	129	14
MUT:BRCA1:Val1736Gly	PROT:P38398	BRCA1	V	1736	G	V1736G	Pathogenic/Likely pathogenic	1	3	129	14
MUT:BRCA1:Val1736Phe	PROT:P38398	BRCA1	V	1736	F	V1736F	Likely pathogenic	1	3	129	14
MUT:BRCA1:Val1784Glu	PROT:P38398	BRCA1	V	1784	E	V1784E	Likely pathogenic	1	2	129	6
MUT:BRCA1:Val1804Asp	PROT:P38398	BRCA1	V	1804	D	V1804D	Benign	0	5	129	14
MUT:BRCA1:Val1809Asp	PROT:P38398	BRCA1	V	1809	D	V1809D	Likely pathogenic	1	2	129	19
MUT:BRCA1:Val1809Phe	PROT:P38398	BRCA1	V	1809	F	V1809F	Likely pathogenic	1	4	129	19
MUT:BRCA1:Val1833Gly	PROT:P38398	BRCA1	V	1833	G	V1833G	Likely pathogenic	1	1	129	43
MUT:BRCA1:Val1833Met	PROT:P38398	BRCA1	V	1833	M	V1833M	Pathogenic/Likely pathogenic	1	4	129	43
MUT:BRCA1:Val1838Glu	PROT:P38398	BRCA1	V	1838	E	V1838E	Pathogenic	1	3	129	48
MUT:BRCA1:Val1838Gly	PROT:P38398	BRCA1	V	1838	G	V1838G	Likely pathogenic	1	1	129	48
MUT:BRCA1:Val191Ile	PROT:P38398	BRCA1	V	191	I	V191I	Benign	0	6	129	4
MUT:BRCA1:Val271Met	PROT:P38398	BRCA1	V	271	M	V271M	Benign	0	8	129	23
MUT:BRCA1:Val35Ala	PROT:P38398	BRCA1	V	35	A	V35A	Likely pathogenic	1	1	129	3
MUT:BRCA1:Val772Ala	PROT:P38398	BRCA1	V	772	A	V772A	Benign	0	8	129	19
MUT:BRCA1:Val920Ile	PROT:P38398	BRCA1	V	920	I	V920I	Benign	0	5	129	47
MUT:BRCA2:Ala1162Gly	PROT:P51587	BRCA2	A	1162	G	A1162G	Likely benign	0	1	180	9
MUT:BRCA2:Ala1193Ser	PROT:P51587	BRCA2	A	1193	S	A1193S	Likely benign	0	1	180	4
MUT:BRCA2:Ala1253Thr	PROT:P51587	BRCA2	A	1253	T	A1253T	Likely benign	0	1	180	11
MUT:BRCA2:Ala1668Gly	PROT:P51587	BRCA2	A	1668	G	A1668G	Likely benign	0	2	180	10
MUT:BRCA2:Ala1825Val	PROT:P51587	BRCA2	A	1825	V	A1825V	Benign/Likely benign	0	4	180	7
MUT:BRCA2:Ala1843Ser	PROT:P51587	BRCA2	A	1843	S	A1843S	Likely benign	0	1	180	17
MUT:BRCA2:Ala2233Val	PROT:P51587	BRCA2	A	2233	V	A2233V	Likely benign	0	2	180	11
MUT:BRCA2:Ala2351Gly	PROT:P51587	BRCA2	A	2351	G	A2351G	Benign/Likely benign	0	7	180	8
MUT:BRCA2:Ala2487Thr	PROT:P51587	BRCA2	A	2487	T	A2487T	Likely benign	0	1	180	11
MUT:BRCA2:Ala2582Pro	PROT:P51587	BRCA2	A	2582	P	A2582P	Likely benign	0	1	180	5
MUT:BRCA2:Ala2603Pro	PROT:P51587	BRCA2	A	2603	P	A2603P	Likely pathogenic	1	1	180	6
MUT:BRCA2:Ala2632Gly	PROT:P51587	BRCA2	A	2632	G	A2632G	Likely benign	0	1	180	8
MUT:BRCA2:Ala2633Val	PROT:P51587	BRCA2	A	2633	V	A2633V	Likely benign	0	1	180	7
MUT:BRCA2:Ala2698Gly	PROT:P51587	BRCA2	A	2698	G	A2698G	Likely benign	0	1	180	41
MUT:BRCA2:Ala2717Ser	PROT:P51587	BRCA2	A	2717	S	A2717S	Benign	0	8	180	24
MUT:BRCA2:Ala2730Pro	PROT:P51587	BRCA2	A	2730	P	A2730P	Likely pathogenic	1	5	180	11
MUT:BRCA2:Ala2738Thr	PROT:P51587	BRCA2	A	2738	T	A2738T	Likely benign	0	1	180	3
MUT:BRCA2:Ala2770Thr	PROT:P51587	BRCA2	A	2770	T	A2770T	Benign	0	3	180	29
MUT:BRCA2:Ala2780Asp	PROT:P51587	BRCA2	A	2780	D	A2780D	Likely pathogenic	1	1	180	39
MUT:BRCA2:Ala2825Ser	PROT:P51587	BRCA2	A	2825	S	A2825S	Benign	0	1	180	57
MUT:BRCA2:Ala2902Ser	PROT:P51587	BRCA2	A	2902	S	A2902S	Likely benign	0	1	180	20
MUT:BRCA2:Ala2912Thr	PROT:P51587	BRCA2	A	2912	T	A2912T	Benign	0	1	180	30
MUT:BRCA2:Ala2951Pro	PROT:P51587	BRCA2	A	2951	P	A2951P	Likely benign	0	1	180	3
MUT:BRCA2:Ala2951Ser	PROT:P51587	BRCA2	A	2951	S	A2951S	Likely benign	0	2	180	3
MUT:BRCA2:Ala2951Thr	PROT:P51587	BRCA2	A	2951	T	A2951T	Benign	0	9	180	3
MUT:BRCA2:Ala3023Asp	PROT:P51587	BRCA2	A	3023	D	A3023D	Likely benign	0	1	180	8
MUT:BRCA2:Ala3028Pro	PROT:P51587	BRCA2	A	3028	P	A3028P	Pathogenic/Likely pathogenic	1	5	180	3
MUT:BRCA2:Ala3121Val	PROT:P51587	BRCA2	A	3121	V	A3121V	Likely benign	0	1	180	58
MUT:BRCA2:Ala3122Pro	PROT:P51587	BRCA2	A	3122	P	A3122P	Likely pathogenic	1	3	180	57
MUT:BRCA2:Ala3140Ser	PROT:P51587	BRCA2	A	3140	S	A3140S	Likely benign	0	1	180	39
MUT:BRCA2:Ala3186Glu	PROT:P51587	BRCA2	A	3186	E	A3186E	Likely benign	0	1	180	7
MUT:BRCA2:Ala3235Asp	PROT:P51587	BRCA2	A	3235	D	A3235D	Likely benign	0	1	180	3
MUT:BRCA2:Ala3270Thr	PROT:P51587	BRCA2	A	3270	T	A3270T	Likely benign	0	1	180	14
MUT:BRCA2:Ala3270Val	PROT:P51587	BRCA2	A	3270	V	A3270V	Likely benign	0	1	180	14
MUT:BRCA2:Ala3399Ser	PROT:P51587	BRCA2	A	3399	S	A3399S	Likely benign	0	2	180	12
MUT:BRCA2:Ala487Ser	PROT:P51587	BRCA2	A	487	S	A487S	Likely benign	0	2	180	2
MUT:BRCA2:Ala573Thr	PROT:P51587	BRCA2	A	573	T	A573T	Likely benign	0	2	180	8
MUT:BRCA2:Ala618Pro	PROT:P51587	BRCA2	A	618	P	A618P	Likely benign	0	2	180	8
MUT:BRCA2:Ala622Val	PROT:P51587	BRCA2	A	622	V	A622V	Benign	0	4	180	12
MUT:BRCA2:Ala737Ser	PROT:P51587	BRCA2	A	737	S	A737S	Likely benign	0	2	180	8
MUT:BRCA2:Ala75Pro	PROT:P51587	BRCA2	A	75	P	A75P	Benign	0	7	180	1
MUT:BRCA2:Arg113Thr	PROT:P51587	BRCA2	R	113	T	R113T	Likely benign	0	1	180	17
MUT:BRCA2:Arg1190Trp	PROT:P51587	BRCA2	R	1190	W	R1190W	Benign	0	6	180	7
MUT:BRCA2:Arg1315Lys	PROT:P51587	BRCA2	R	1315	K	R1315K	Likely benign	0	2	180	8
MUT:BRCA2:Arg18His	PROT:P51587	BRCA2	R	18	H	R18H	Benign	0	3	180	39
MUT:BRCA2:Arg2034Cys	PROT:P51587	BRCA2	R	2034	C	R2034C	Benign	0	6	180	1
MUT:BRCA2:Arg2108Cys	PROT:P51587	BRCA2	R	2108	C	R2108C	Benign	0	7	180	4
MUT:BRCA2:Arg2108His	PROT:P51587	BRCA2	R	2108	H	R2108H	Benign	0	7	180	4
MUT:BRCA2:Arg2268Gly	PROT:P51587	BRCA2	R	2268	G	R2268G	Likely benign	0	1	180	18
MUT:BRCA2:Arg2318Gln	PROT:P51587	BRCA2	R	2318	Q	R2318Q	Benign	0	6	180	10
MUT:BRCA2:Arg2336Gly	PROT:P51587	BRCA2	R	2336	G	R2336G	Likely benign	0	1	180	23
MUT:BRCA2:Arg2336His	PROT:P51587	BRCA2	R	2336	H	R2336H	Pathogenic	1	10	180	23
MUT:BRCA2:Arg2336Leu	PROT:P51587	BRCA2	R	2336	L	R2336L	Pathogenic/Likely pathogenic	1	3	180	23
MUT:BRCA2:Arg2336Pro	PROT:P51587	BRCA2	R	2336	P	R2336P	Pathogenic/Likely pathogenic	1	7	180	23
MUT:BRCA2:Arg2488Thr	PROT:P51587	BRCA2	R	2488	T	R2488T	Likely benign	0	1	180	10
MUT:BRCA2:Arg2502His	PROT:P51587	BRCA2	R	2502	H	R2502H	Benign	0	4	180	4
MUT:BRCA2:Arg2520Gln	PROT:P51587	BRCA2	R	2520	Q	R2520Q	Likely benign	0	5	180	6
MUT:BRCA2:Arg2602Thr	PROT:P51587	BRCA2	R	2602	T	R2602T	Pathogenic	1	1	180	5
MUT:BRCA2:Arg2625Ile	PROT:P51587	BRCA2	R	2625	I	R2625I	Likely pathogenic	1	4	180	1
MUT:BRCA2:Arg2659Gly	PROT:P51587	BRCA2	R	2659	G	R2659G	Pathogenic	1	4	180	2
MUT:BRCA2:Arg2659Lys	PROT:P51587	BRCA2	R	2659	K	R2659K	Pathogenic/Likely pathogenic	1	7	180	2
MUT:BRCA2:Arg2659Thr	PROT:P51587	BRCA2	R	2659	T	R2659T	Pathogenic	1	2	180	2
MUT:BRCA2:Arg2668Ser	PROT:P51587	BRCA2	R	2668	S	R2668S	Likely benign	0	1	180	11
MUT:BRCA2:Arg2784Trp	PROT:P51587	BRCA2	R	2784	W	R2784W	Pathogenic/Likely pathogenic	1	9	180	43
MUT:BRCA2:Arg2787Leu	PROT:P51587	BRCA2	R	2787	L	R2787L	Likely benign	0	1	180	46
MUT:BRCA2:Arg2799Gly	PROT:P51587	BRCA2	R	2799	G	R2799G	Likely benign	0	1	180	58
MUT:BRCA2:Arg2799Ser	PROT:P51587	BRCA2	R	2799	S	R2799S	Likely benign	0	1	180	58
MUT:BRCA2:Arg2824Lys	PROT:P51587	BRCA2	R	2824	K	R2824K	Likely benign	0	1	180	58
MUT:BRCA2:Arg2842His	PROT:P51587	BRCA2	R	2842	H	R2842H	Benign	0	4	180	40
MUT:BRCA2:Arg2888Cys	PROT:P51587	BRCA2	R	2888	C	R2888C	Benign	0	3	180	6
MUT:BRCA2:Arg2888Ser	PROT:P51587	BRCA2	R	2888	S	R2888S	Likely benign	0	1	180	6
MUT:BRCA2:Arg2973Cys	PROT:P51587	BRCA2	R	2973	C	R2973C	Benign	0	4	180	15
MUT:BRCA2:Arg2991His	PROT:P51587	BRCA2	R	2991	H	R2991H	Benign/Likely benign	0	3	180	18
MUT:BRCA2:Arg3052Leu	PROT:P51587	BRCA2	R	3052	L	R3052L	Likely pathogenic	1	2	180	21
MUT:BRCA2:Arg3052Trp	PROT:P51587	BRCA2	R	3052	W	R3052W	Pathogenic	1	9	180	21
MUT:BRCA2:Arg316Ser	PROT:P51587	BRCA2	R	316	S	R316S	Likely benign	0	1	180	27
MUT:BRCA2:Arg3385Cys	PROT:P51587	BRCA2	R	3385	C	R3385C	Benign/Likely benign	0	5	180	2
MUT:BRCA2:Arg841Ser	PROT:P51587	BRCA2	R	841	S	R841S	Likely benign	0	2	180	3
MUT:BRCA2:Asn108His	PROT:P51587	BRCA2	N	108	H	N108H	Benign	0	4	180	12
MUT:BRCA2:Asn1098Tyr	PROT:P51587	BRCA2	N	1098	Y	N1098Y	Likely benign	0	2	180	4
MUT:BRCA2:Asn1102Tyr	PROT:P51587	BRCA2	N	1102	Y	N1102Y	Benign	0	5	180	2
MUT:BRCA2:Asn1201Ser	PROT:P51587	BRCA2	N	1201	S	N1201S	Likely benign	0	1	180	1
MUT:BRCA2:Asn1228Asp	PROT:P51587	BRCA2	N	1228	D	N1228D	Benign	0	3	180	2
MUT:BRCA2:Asn1288Asp	PROT:P51587	BRCA2	N	1288	D	N1288D	Likely benign	0	1	180	24
MUT:BRCA2:Asn1296His	PROT:P51587	BRCA2	N	1296	H	N1296H	Likely benign	0	1	180	27
MUT:BRCA2:Asn1363His	PROT:P51587	BRCA2	N	1363	H	N1363H	Likely benign	0	1	180	11
MUT:BRCA2:Asn1377Ile	PROT:P51587	BRCA2	N	1377	I	N1377I	Likely benign	0	1	180	3
MUT:BRCA2:Asn1473Ser	PROT:P51587	BRCA2	N	1473	S	N1473S	Likely benign	0	1	180	1
MUT:BRCA2:Asn1603Lys	PROT:P51587	BRCA2	N	1603	K	N1603K	Likely benign	0	1	180	11
MUT:BRCA2:Asn1718Asp	PROT:P51587	BRCA2	N	1718	D	N1718D	Likely benign	0	1	180	11
MUT:BRCA2:Asn1747Ser	PROT:P51587	BRCA2	N	1747	S	N1747S	Likely benign	0	1	180	18
MUT:BRCA2:Asn1766Lys	PROT:P51587	BRCA2	N	1766	K	N1766K	Likely benign	0	2	180	1
MUT:BRCA2:Asn1778Lys	PROT:P51587	BRCA2	N	1778	K	N1778K	Likely benign	0	2	180	1
MUT:BRCA2:Asn1784Asp	PROT:P51587	BRCA2	N	1784	D	N1784D	Likely benign	0	1	180	1
MUT:BRCA2:Asn1805Asp	PROT:P51587	BRCA2	N	1805	D	N1805D	Likely benign	0	2	180	13
MUT:BRCA2:Asn1878Lys	PROT:P51587	BRCA2	N	1878	K	N1878K	Benign	0	6	180	6
MUT:BRCA2:Asn1880Lys	PROT:P51587	BRCA2	N	1880	K	N1880K	Benign	0	6	180	8
MUT:BRCA2:Asn1935Ile	PROT:P51587	BRCA2	N	1935	I	N1935I	Likely benign	0	1	180	6
MUT:BRCA2:Asn2048Ile	PROT:P51587	BRCA2	N	2048	I	N2048I	Benign	0	4	180	7
MUT:BRCA2:Asn2113Lys	PROT:P51587	BRCA2	N	2113	K	N2113K	Likely benign	0	1	180	9
MUT:BRCA2:Asn2113Ser	PROT:P51587	BRCA2	N	2113	S	N2113S	Benign	0	5	180	9
MUT:BRCA2:Asn213Ser	PROT:P51587	BRCA2	N	213	S	N213S	Likely benign	0	1	180	6
MUT:BRCA2:Asn2208Ile	PROT:P51587	BRCA2	N	2208	I	N2208I	Likely benign	0	1	180	2
MUT:BRCA2:Asn2288Ser	PROT:P51587	BRCA2	N	2288	S	N2288S	Likely benign	0	1	180	2
MUT:BRCA2:Asn2374Ile	PROT:P51587	BRCA2	N	2374	I	N2374I	Likely benign	0	1	180	11
MUT:BRCA2:Asn2436Ile	PROT:P51587	BRCA2	N	2436	I	N2436I	Benign	0	4	180	12
MUT:BRCA2:Asn2452Tyr	PROT:P51587	BRCA2	N	2452	Y	N2452Y	Likely benign	0	1	180	4
MUT:BRCA2:Asn2699Ser	PROT:P51587	BRCA2	N	2699	S	N2699S	Likely benign	0	1	180	42
MUT:BRCA2:Asn277Lys	PROT:P51587	BRCA2	N	277	K	N277K	Benign	0	6	180	4
MUT:BRCA2:Asn289His	PROT:P51587	BRCA2	N	289	H	N289H	Benign	0	6	180	16
MUT:BRCA2:Asn289Lys	PROT:P51587	BRCA2	N	289	K	N289K	Likely benign	0	1	180	16
MUT:BRCA2:Asn2910Asp	PROT:P51587	BRCA2	N	2910	D	N2910D	Benign	0	1	180	28
MUT:BRCA2:Asn2910Ser	PROT:P51587	BRCA2	N	2910	S	N2910S	Benign	0	1	180	28
MUT:BRCA2:Asn2931Thr	PROT:P51587	BRCA2	N	2931	T	N2931T	Benign	0	1	180	23
MUT:BRCA2:Asn2937Thr	PROT:P51587	BRCA2	N	2937	T	N2937T	Benign	0	1	180	17
MUT:BRCA2:Asn3024Asp	PROT:P51587	BRCA2	N	3024	D	N3024D	Benign	0	1	180	7
MUT:BRCA2:Asn3124His	PROT:P51587	BRCA2	N	3124	H	N3124H	Likely benign	0	1	180	55
MUT:BRCA2:Asn3124Ile	PROT:P51587	BRCA2	N	3124	I	N3124I	Pathogenic	1	9	180	55
MUT:BRCA2:Asn3174Lys	PROT:P51587	BRCA2	N	3174	K	N3174K	Benign	0	2	180	5
MUT:BRCA2:Asn3187Lys	PROT:P51587	BRCA2	N	3187	K	N3187K	Likely benign	0	1	180	6
MUT:BRCA2:Asn3318Asp	PROT:P51587	BRCA2	N	3318	D	N3318D	Likely benign	0	1	180	1
MUT:BRCA2:Asn3337Asp	PROT:P51587	BRCA2	N	3337	D	N3337D	Likely benign	0	1	180	14
MUT:BRCA2:Asn3348Asp	PROT:P51587	BRCA2	N	3348	D	N3348D	Likely benign	0	1	180	25
MUT:BRCA2:Asn361Asp	PROT:P51587	BRCA2	N	361	D	N361D	Likely benign	0	1	180	2
MUT:BRCA2:Asn372His	PROT:P51587	BRCA2	N	372	H	N372H	Benign	0	8	180	9
MUT:BRCA2:Asn560Asp	PROT:P51587	BRCA2	N	560	D	N560D	Likely benign	0	2	180	21
MUT:BRCA2:Asn56Thr	PROT:P51587	BRCA2	N	56	T	N56T	Benign	0	4	180	1
MUT:BRCA2:Asn56Tyr	PROT:P51587	BRCA2	N	56	Y	N56Y	Likely benign	0	1	180	1
MUT:BRCA2:Asn678Ser	PROT:P51587	BRCA2	N	678	S	N678S	Likely benign	0	1	180	5
MUT:BRCA2:Asn801Lys	PROT:P51587	BRCA2	N	801	K	N801K	Likely benign	0	1	180	2
MUT:BRCA2:Asn818Lys	PROT:P51587	BRCA2	N	818	K	N818K	Likely benign	0	1	180	1
MUT:BRCA2:Asn856Lys	PROT:P51587	BRCA2	N	856	K	N856K	Likely benign	0	2	180	6
MUT:BRCA2:Asn876Thr	PROT:P51587	BRCA2	N	876	T	N876T	Likely benign	0	1	180	3
MUT:BRCA2:Asn900Asp	PROT:P51587	BRCA2	N	900	D	N900D	Benign	0	5	180	7
MUT:BRCA2:Asn987Ile	PROT:P51587	BRCA2	N	987	I	N987I	Benign	0	6	180	2
MUT:BRCA2:Asn991Asp	PROT:P51587	BRCA2	N	991	D	N991D	Benign	0	6	180	1
MUT:BRCA2:Asp1161Glu	PROT:P51587	BRCA2	D	1161	E	D1161E	Likely benign	0	1	180	8
MUT:BRCA2:Asp1199Gly	PROT:P51587	BRCA2	D	1199	G	D1199G	Likely benign	0	2	180	2
MUT:BRCA2:Asp1267Asn	PROT:P51587	BRCA2	D	1267	N	D1267N	Likely benign	0	1	180	3
MUT:BRCA2:Asp1280Val	PROT:P51587	BRCA2	D	1280	V	D1280V	Benign	0	4	180	16
MUT:BRCA2:Asp1420Gly	PROT:P51587	BRCA2	D	1420	G	D1420G	Likely benign	0	1	180	1
MUT:BRCA2:Asp1420Tyr	PROT:P51587	BRCA2	D	1420	Y	D1420Y	Benign	0	6	180	1
MUT:BRCA2:Asp1547Asn	PROT:P51587	BRCA2	D	1547	N	D1547N	Likely benign	0	2	180	2
MUT:BRCA2:Asp156Glu	PROT:P51587	BRCA2	D	156	E	D156E	Likely benign	0	3	180	37
MUT:BRCA2:Asp1699Asn	PROT:P51587	BRCA2	D	1699	N	D1699N	Benign/Likely benign	0	4	180	9
MUT:BRCA2:Asp1699His	PROT:P51587	BRCA2	D	1699	H	D1699H	Likely benign	0	1	180	9
MUT:BRCA2:Asp1728Gly	PROT:P51587	BRCA2	D	1728	G	D1728G	Likely benign	0	1	180	1
MUT:BRCA2:Asp1769Tyr	PROT:P51587	BRCA2	D	1769	Y	D1769Y	Likely benign	0	1	180	1
MUT:BRCA2:Asp1902Ala	PROT:P51587	BRCA2	D	1902	A	D1902A	Likely benign	0	1	180	24
MUT:BRCA2:Asp1911Gly	PROT:P51587	BRCA2	D	1911	G	D1911G	Likely benign	0	1	180	15
MUT:BRCA2:Asp1911His	PROT:P51587	BRCA2	D	1911	H	D1911H	Likely benign	0	1	180	15
MUT:BRCA2:Asp1911Val	PROT:P51587	BRCA2	D	1911	V	D1911V	Likely benign	0	1	180	15
MUT:BRCA2:Asp1923Ala	PROT:P51587	BRCA2	D	1923	A	D1923A	Benign	0	7	180	3
MUT:BRCA2:Asp2084Tyr	PROT:P51587	BRCA2	D	2084	Y	D2084Y	Likely benign	0	1	180	7
MUT:BRCA2:Asp2312Val	PROT:P51587	BRCA2	D	2312	V	D2312V	Benign	0	6	180	4
MUT:BRCA2:Asp23Tyr	PROT:P51587	BRCA2	D	23	Y	D23Y	Pathogenic/Likely pathogenic	1	1	180	34
MUT:BRCA2:Asp2451Gly	PROT:P51587	BRCA2	D	2451	G	D2451G	Likely benign	0	1	180	3
MUT:BRCA2:Asp2479Glu	PROT:P51587	BRCA2	D	2479	E	D2479E	Likely benign	0	1	180	19
MUT:BRCA2:Asp2489His	PROT:P51587	BRCA2	D	2489	H	D2489H	Likely benign	0	1	180	9
MUT:BRCA2:Asp2492Asn	PROT:P51587	BRCA2	D	2492	N	D2492N	Likely benign	0	1	180	6
MUT:BRCA2:Asp2665Gly	PROT:P51587	BRCA2	D	2665	G	D2665G	Benign	0	7	180	8
MUT:BRCA2:Asp2692Gly	PROT:P51587	BRCA2	D	2692	G	D2692G	Likely benign	0	1	180	35
MUT:BRCA2:Asp2723Ala	PROT:P51587	BRCA2	D	2723	A	D2723A	Pathogenic	1	4	180	18
MUT:BRCA2:Asp2723Gly	PROT:P51587	BRCA2	D	2723	G	D2723G	Pathogenic	1	6	180	18
MUT:BRCA2:Asp2723His	PROT:P51587	BRCA2	D	2723	H	D2723H	Pathogenic	1	10	180	18
MUT:BRCA2:Asp2723Val	PROT:P51587	BRCA2	D	2723	V	D2723V	Pathogenic/Likely pathogenic	1	5	180	18
MUT:BRCA2:Asp2797His	PROT:P51587	BRCA2	D	2797	H	D2797H	Likely benign	0	1	180	56
MUT:BRCA2:Asp2811Asn	PROT:P51587	BRCA2	D	2811	N	D2811N	Likely benign	0	1	180	70
MUT:BRCA2:Asp2983Gly	PROT:P51587	BRCA2	D	2983	G	D2983G	Likely benign	0	1	180	25
MUT:BRCA2:Asp3064His	PROT:P51587	BRCA2	D	3064	H	D3064H	Likely benign	0	1	180	33
MUT:BRCA2:Asp3095Glu	PROT:P51587	BRCA2	D	3095	E	D3095E	Pathogenic	1	5	180	64
MUT:BRCA2:Asp3170Gly	PROT:P51587	BRCA2	D	3170	G	D3170G	Benign	0	6	180	9
MUT:BRCA2:Asp381Asn	PROT:P51587	BRCA2	D	381	N	D381N	Benign/Likely benign	0	4	180	1
MUT:BRCA2:Asp420Tyr	PROT:P51587	BRCA2	D	420	Y	D420Y	Likely benign	0	1	180	6
MUT:BRCA2:Asp427Glu	PROT:P51587	BRCA2	D	427	E	D427E	Benign/Likely benign	0	2	180	1
MUT:BRCA2:Asp438Val	PROT:P51587	BRCA2	D	438	V	D438V	Likely benign	0	2	180	7
MUT:BRCA2:Asp526His	PROT:P51587	BRCA2	D	526	H	D526H	Likely benign	0	1	180	15
MUT:BRCA2:Asp559Asn	PROT:P51587	BRCA2	D	559	N	D559N	Likely benign	0	2	180	22
MUT:BRCA2:Asp596His	PROT:P51587	BRCA2	D	596	H	D596H	Benign	0	7	180	4
MUT:BRCA2:Asp707Tyr	PROT:P51587	BRCA2	D	707	Y	D707Y	Likely benign	0	2	180	24
MUT:BRCA2:Asp720Glu	PROT:P51587	BRCA2	D	720	E	D720E	Likely benign	0	1	180	25
MUT:BRCA2:Asp806His	PROT:P51587	BRCA2	D	806	H	D806H	Benign	0	8	180	1
MUT:BRCA2:Asp913Tyr	PROT:P51587	BRCA2	D	913	Y	D913Y	Likely benign	0	1	180	6
MUT:BRCA2:Asp935Asn	PROT:P51587	BRCA2	D	935	N	D935N	Benign/Likely benign	0	7	180	10
MUT:BRCA2:Asp935His	PROT:P51587	BRCA2	D	935	H	D935H	Benign	0	7	180	10
MUT:BRCA2:Asp988Asn	PROT:P51587	BRCA2	D	988	N	D988N	Likely benign	0	1	180	3
MUT:BRCA2:Cys1044Trp	PROT:P51587	BRCA2	C	1044	W	C1044W	Likely benign	0	2	180	50
MUT:BRCA2:Cys1081Phe	PROT:P51587	BRCA2	C	1081	F	C1081F	Likely benign	0	1	180	13
MUT:BRCA2:Cys1265Ser	PROT:P51587	BRCA2	C	1265	S	C1265S	Benign	0	3	180	1
MUT:BRCA2:Cys1290Trp	PROT:P51587	BRCA2	C	1290	W	C1290W	Likely benign	0	1	180	26
MUT:BRCA2:Cys1290Tyr	PROT:P51587	BRCA2	C	1290	Y	C1290Y	Benign	0	7	180	26
MUT:BRCA2:Cys1365Tyr	PROT:P51587	BRCA2	C	1365	Y	C1365Y	Benign	0	5	180	9
MUT:BRCA2:Cys1573Tyr	PROT:P51587	BRCA2	C	1573	Y	C1573Y	Likely benign	0	3	180	8
MUT:BRCA2:Cys1948Phe	PROT:P51587	BRCA2	C	1948	F	C1948F	Likely benign	0	1	180	2
MUT:BRCA2:Cys1960Tyr	PROT:P51587	BRCA2	C	1960	Y	C1960Y	Benign/Likely benign	0	5	180	1
MUT:BRCA2:Cys2605Arg	PROT:P51587	BRCA2	C	2605	R	C2605R	Likely benign	0	1	180	8
MUT:BRCA2:Cys315Ser	PROT:P51587	BRCA2	C	315	S	C315S	Benign/Likely benign	0	7	180	28
MUT:BRCA2:Cys3173Phe	PROT:P51587	BRCA2	C	3173	F	C3173F	Likely benign	0	1	180	6
MUT:BRCA2:Cys3198Arg	PROT:P51587	BRCA2	C	3198	R	C3198R	Benign	0	6	180	1
MUT:BRCA2:Cys3304Trp	PROT:P51587	BRCA2	C	3304	W	C3304W	Likely benign	0	1	180	13
MUT:BRCA2:Cys3386Tyr	PROT:P51587	BRCA2	C	3386	Y	C3386Y	Likely benign	0	1	180	1
MUT:BRCA2:Cys480Gly	PROT:P51587	BRCA2	C	480	G	C480G	Likely benign	0	1	180	5
MUT:BRCA2:Cys554Trp	PROT:P51587	BRCA2	C	554	W	C554W	Benign	0	6	180	27
MUT:BRCA2:Cys711Phe	PROT:P51587	BRCA2	C	711	F	C711F	Likely benign	0	1	180	28
MUT:BRCA2:Cys717Ser	PROT:P51587	BRCA2	C	717	S	C717S	Likely benign	0	1	180	28
MUT:BRCA2:Gln1056Lys	PROT:P51587	BRCA2	Q	1056	K	Q1056K	Likely benign	0	1	180	38
MUT:BRCA2:Gln1089Glu	PROT:P51587	BRCA2	Q	1089	E	Q1089E	Likely benign	0	1	180	5
MUT:BRCA2:Gln1379Arg	PROT:P51587	BRCA2	Q	1379	R	Q1379R	Likely benign	0	1	180	2
MUT:BRCA2:Gln1396Arg	PROT:P51587	BRCA2	Q	1396	R	Q1396R	Benign	0	6	180	2
MUT:BRCA2:Gln1396Glu	PROT:P51587	BRCA2	Q	1396	E	Q1396E	Likely benign	0	1	180	2
MUT:BRCA2:Gln1408Glu	PROT:P51587	BRCA2	Q	1408	E	Q1408E	Likely benign	0	1	180	2
MUT:BRCA2:Gln147Arg	PROT:P51587	BRCA2	Q	147	R	Q147R	Benign	0	9	180	46
MUT:BRCA2:Gln1507His	PROT:P51587	BRCA2	Q	1507	H	Q1507H	Likely benign	0	2	180	8
MUT:BRCA2:Gln1562Arg	PROT:P51587	BRCA2	Q	1562	R	Q1562R	Likely benign	0	2	180	3
MUT:BRCA2:Gln1886Lys	PROT:P51587	BRCA2	Q	1886	K	Q1886K	Likely benign	0	1	180	14
MUT:BRCA2:Gln1934Lys	PROT:P51587	BRCA2	Q	1934	K	Q1934K	Likely benign	0	1	180	7
MUT:BRCA2:Gln2042Lys	PROT:P51587	BRCA2	Q	2042	K	Q2042K	Likely benign	0	1	180	1
MUT:BRCA2:Gln2065Pro	PROT:P51587	BRCA2	Q	2065	P	Q2065P	Likely benign	0	1	180	6
MUT:BRCA2:Gln2384Lys	PROT:P51587	BRCA2	Q	2384	K	Q2384K	Benign	0	8	180	20
MUT:BRCA2:Gln2530Pro	PROT:P51587	BRCA2	Q	2530	P	Q2530P	Benign	0	1	180	8
MUT:BRCA2:Gln2539Glu	PROT:P51587	BRCA2	Q	2539	E	Q2539E	Likely benign	0	1	180	1
MUT:BRCA2:Gln258Lys	PROT:P51587	BRCA2	Q	258	K	Q258K	Likely benign	0	1	180	5
MUT:BRCA2:Gln2655Arg	PROT:P51587	BRCA2	Q	2655	R	Q2655R	Pathogenic/Likely pathogenic	1	5	180	2
MUT:BRCA2:Gln2731His	PROT:P51587	BRCA2	Q	2731	H	Q2731H	Likely benign	0	1	180	10
MUT:BRCA2:Gln2749Glu	PROT:P51587	BRCA2	Q	2749	E	Q2749E	Likely benign	0	1	180	8
MUT:BRCA2:Gln2829Arg	PROT:P51587	BRCA2	Q	2829	R	Q2829R	Pathogenic/Likely pathogenic	1	5	180	53
MUT:BRCA2:Gln2829His	PROT:P51587	BRCA2	Q	2829	H	Q2829H	Pathogenic/Likely pathogenic	1	2	180	53
MUT:BRCA2:Gln2829Pro	PROT:P51587	BRCA2	Q	2829	P	Q2829P	Likely pathogenic	1	1	180	53
MUT:BRCA2:Gln2870Pro	PROT:P51587	BRCA2	Q	2870	P	Q2870P	Likely benign	0	1	180	12
MUT:BRCA2:Gln2943Glu	PROT:P51587	BRCA2	Q	2943	E	Q2943E	Benign	0	1	180	11
MUT:BRCA2:Gln2945Glu	PROT:P51587	BRCA2	Q	2945	E	Q2945E	Benign	0	1	180	9
MUT:BRCA2:Gln2957His	PROT:P51587	BRCA2	Q	2957	H	Q2957H	Benign	0	1	180	1
MUT:BRCA2:Gln2960Glu	PROT:P51587	BRCA2	Q	2960	E	Q2960E	Likely benign	0	1	180	2
MUT:BRCA2:Gln3037Leu	PROT:P51587	BRCA2	Q	3037	L	Q3037L	Likely benign	0	1	180	6
MUT:BRCA2:Gln321His	PROT:P51587	BRCA2	Q	321	H	Q321H	Likely benign	0	2	180	22
MUT:BRCA2:Gln3409Pro	PROT:P51587	BRCA2	Q	3409	P	Q3409P	Likely benign	0	1	180	22
MUT:BRCA2:Gln347Arg	PROT:P51587	BRCA2	Q	347	R	Q347R	Benign	0	4	180	4
MUT:BRCA2:Gln499Arg	PROT:P51587	BRCA2	Q	499	R	Q499R	Likely benign	0	2	180	3
MUT:BRCA2:Gln548Lys	PROT:P51587	BRCA2	Q	548	K	Q548K	Likely benign	0	1	180	33
MUT:BRCA2:Gln713Leu	PROT:P51587	BRCA2	Q	713	L	Q713L	Benign/Likely benign	0	5	180	30
MUT:BRCA2:Gln713Pro	PROT:P51587	BRCA2	Q	713	P	Q713P	Likely benign	0	2	180	30
MUT:BRCA2:Glu1320Gly	PROT:P51587	BRCA2	E	1320	G	E1320G	Likely benign	0	1	180	3
MUT:BRCA2:Glu1353Asp	PROT:P51587	BRCA2	E	1353	D	E1353D	Likely benign	0	2	180	10
MUT:BRCA2:Glu1407Gln	PROT:P51587	BRCA2	E	1407	Q	E1407Q	Likely benign	0	1	180	1
MUT:BRCA2:Glu1481Gly	PROT:P51587	BRCA2	E	1481	G	E1481G	Likely benign	0	1	180	7
MUT:BRCA2:Glu1537Lys	PROT:P51587	BRCA2	E	1537	K	E1537K	Benign	0	2	180	4
MUT:BRCA2:Glu1571Gly	PROT:P51587	BRCA2	E	1571	G	E1571G	Likely benign	0	1	180	6
MUT:BRCA2:Glu1593Asp	PROT:P51587	BRCA2	E	1593	D	E1593D	Benign	0	6	180	21
MUT:BRCA2:Glu1644Ala	PROT:P51587	BRCA2	E	1644	A	E1644A	Likely benign	0	1	180	12
MUT:BRCA2:Glu1780Gly	PROT:P51587	BRCA2	E	1780	G	E1780G	Likely benign	0	1	180	3
MUT:BRCA2:Glu1895Gln	PROT:P51587	BRCA2	E	1895	Q	E1895Q	Likely benign	0	2	180	23
MUT:BRCA2:Glu1928Gln	PROT:P51587	BRCA2	E	1928	Q	E1928Q	Likely benign	0	1	180	2
MUT:BRCA2:Glu218Ala	PROT:P51587	BRCA2	E	218	A	E218A	Likely benign	0	1	180	7
MUT:BRCA2:Glu2239Gly	PROT:P51587	BRCA2	E	2239	G	E2239G	Likely benign	0	1	180	5
MUT:BRCA2:Glu2328Asp	PROT:P51587	BRCA2	E	2328	D	E2328D	Likely benign	0	1	180	20
MUT:BRCA2:Glu2391Gly	PROT:P51587	BRCA2	E	2391	G	E2391G	Likely benign	0	1	180	13
MUT:BRCA2:Glu2475Lys	PROT:P51587	BRCA2	E	2475	K	E2475K	Likely benign	0	1	180	16
MUT:BRCA2:Glu254Asp	PROT:P51587	BRCA2	E	254	D	E254D	Likely benign	0	1	180	1
MUT:BRCA2:Glu2558Ala	PROT:P51587	BRCA2	E	2558	A	E2558A	Likely benign	0	1	180	12
MUT:BRCA2:Glu2599Gly	PROT:P51587	BRCA2	E	2599	G	E2599G	Likely pathogenic	1	3	180	2
MUT:BRCA2:Glu2635Asp	PROT:P51587	BRCA2	E	2635	D	E2635D	Likely benign	0	1	180	5
MUT:BRCA2:Glu2663Lys	PROT:P51587	BRCA2	E	2663	K	E2663K	Pathogenic/Likely pathogenic	1	4	180	6
MUT:BRCA2:Glu2663Val	PROT:P51587	BRCA2	E	2663	V	E2663V	Pathogenic	1	7	180	6
MUT:BRCA2:Glu2757Val	PROT:P51587	BRCA2	E	2757	V	E2757V	Likely benign	0	1	180	16
MUT:BRCA2:Glu2772Val	PROT:P51587	BRCA2	E	2772	V	E2772V	Likely benign	0	1	180	31
MUT:BRCA2:Glu2832Lys	PROT:P51587	BRCA2	E	2832	K	E2832K	Likely benign	0	1	180	50
MUT:BRCA2:Glu2850Ala	PROT:P51587	BRCA2	E	2850	A	E2850A	Likely benign	0	1	180	32
MUT:BRCA2:Glu2856Gly	PROT:P51587	BRCA2	E	2856	G	E2856G	Benign	0	1	180	26
MUT:BRCA2:Glu2871Asp	PROT:P51587	BRCA2	E	2871	D	E2871D	Benign	0	1	180	11
MUT:BRCA2:Glu2875Asp	PROT:P51587	BRCA2	E	2875	D	E2875D	Benign	0	1	180	7
MUT:BRCA2:Glu2878Lys	PROT:P51587	BRCA2	E	2878	K	E2878K	Pathogenic/Likely pathogenic	1	5	180	4
MUT:BRCA2:Glu2903Gln	PROT:P51587	BRCA2	E	2903	Q	E2903Q	Likely benign	0	1	180	21
MUT:BRCA2:Glu2903Lys	PROT:P51587	BRCA2	E	2903	K	E2903K	Likely benign	0	1	180	21
MUT:BRCA2:Glu2918Asp	PROT:P51587	BRCA2	E	2918	D	E2918D	Likely pathogenic	1	1	180	36
MUT:BRCA2:Glu2947Lys	PROT:P51587	BRCA2	E	2947	K	E2947K	Likely benign	0	2	180	7
MUT:BRCA2:Glu2981Val	PROT:P51587	BRCA2	E	2981	V	E2981V	Likely benign	0	1	180	23
MUT:BRCA2:Glu3002Lys	PROT:P51587	BRCA2	E	3002	K	E3002K	Pathogenic/Likely pathogenic	1	7	180	7
MUT:BRCA2:Glu3043Asp	PROT:P51587	BRCA2	E	3043	D	E3043D	Likely benign	0	1	180	12
MUT:BRCA2:Glu3096Gln	PROT:P51587	BRCA2	E	3096	Q	E3096Q	Likely benign	0	1	180	65
MUT:BRCA2:Glu3130Lys	PROT:P51587	BRCA2	E	3130	K	E3130K	Likely benign	0	1	180	49
MUT:BRCA2:Glu3130Val	PROT:P51587	BRCA2	E	3130	V	E3130V	Likely benign	0	1	180	49
MUT:BRCA2:Glu3157Gly	PROT:P51587	BRCA2	E	3157	G	E3157G	Likely benign	0	1	180	22
MUT:BRCA2:Glu3258Lys	PROT:P51587	BRCA2	E	3258	K	E3258K	Likely benign	0	1	180	20
MUT:BRCA2:Glu3367Asp	PROT:P51587	BRCA2	E	3367	D	E3367D	Likely benign	0	1	180	20
MUT:BRCA2:Glu3403Gln	PROT:P51587	BRCA2	E	3403	Q	E3403Q	Likely benign	0	1	180	16
MUT:BRCA2:Glu377Gln	PROT:P51587	BRCA2	E	377	Q	E377Q	Likely benign	0	2	180	5
MUT:BRCA2:Glu394Ala	PROT:P51587	BRCA2	E	394	A	E394A	Benign	0	4	180	10
MUT:BRCA2:Glu432Lys	PROT:P51587	BRCA2	E	432	K	E432K	Likely benign	0	1	180	1
MUT:BRCA2:Glu462Gly	PROT:P51587	BRCA2	E	462	G	E462G	Benign	0	4	180	5
MUT:BRCA2:Glu837Gln	PROT:P51587	BRCA2	E	837	Q	E837Q	Likely benign	0	1	180	1
MUT:BRCA2:Glu881Lys	PROT:P51587	BRCA2	E	881	K	E881K	Likely benign	0	1	180	2
MUT:BRCA2:Glu919Lys	PROT:P51587	BRCA2	E	919	K	E919K	Benign	0	4	180	12
MUT:BRCA2:Glu954Asp	PROT:P51587	BRCA2	E	954	D	E954D	Likely benign	0	1	180	9
MUT:BRCA2:Glu984Lys	PROT:P51587	BRCA2	E	984	K	E984K	Likely benign	0	1	180	1
MUT:BRCA2:Gly1194Asp	PROT:P51587	BRCA2	G	1194	D	G1194D	Benign	0	6	180	3
MUT:BRCA2:Gly1338Cys	PROT:P51587	BRCA2	G	1338	C	G1338C	Likely benign	0	1	180	5
MUT:BRCA2:Gly1529Arg	PROT:P51587	BRCA2	G	1529	R	G1529R	Benign	0	7	180	1
MUT:BRCA2:Gly1696Val	PROT:P51587	BRCA2	G	1696	V	G1696V	Pathogenic	1	1	180	6
MUT:BRCA2:Gly173Arg	PROT:P51587	BRCA2	G	173	R	G173R	Pathogenic/Likely pathogenic	1	7	180	20
MUT:BRCA2:Gly1771Asp	PROT:P51587	BRCA2	G	1771	D	G1771D	Benign	0	6	180	1
MUT:BRCA2:Gly1963Trp	PROT:P51587	BRCA2	G	1963	W	G1963W	Likely benign	0	1	180	4
MUT:BRCA2:Gly2063Lys	PROT:P51587	BRCA2	G	2063	K	G2063K	Likely benign	0	1	180	8
MUT:BRCA2:Gly2168Ala	PROT:P51587	BRCA2	G	2168	A	G2168A	Likely benign	0	2	180	6
MUT:BRCA2:Gly2195Ser	PROT:P51587	BRCA2	G	2195	S	G2195S	Likely benign	0	2	180	1
MUT:BRCA2:Gly2353Arg	PROT:P51587	BRCA2	G	2353	R	G2353R	Benign	0	5	180	6
MUT:BRCA2:Gly2529Arg	PROT:P51587	BRCA2	G	2529	R	G2529R	Likely benign	0	1	180	9
MUT:BRCA2:Gly2529Val	PROT:P51587	BRCA2	G	2529	V	G2529V	Likely benign	0	1	180	9
MUT:BRCA2:Gly2584Val	PROT:P51587	BRCA2	G	2584	V	G2584V	Likely pathogenic	1	1	180	7
MUT:BRCA2:Gly2585Arg	PROT:P51587	BRCA2	G	2585	R	G2585R	Likely pathogenic	1	4	180	8
MUT:BRCA2:Gly2596Glu	PROT:P51587	BRCA2	G	2596	E	G2596E	Likely pathogenic	1	3	180	1
MUT:BRCA2:Gly2609Asp	PROT:P51587	BRCA2	G	2609	D	G2609D	Pathogenic/Likely pathogenic	1	3	180	12
MUT:BRCA2:Gly2609Val	PROT:P51587	BRCA2	G	2609	V	G2609V	Likely pathogenic	1	4	180	12
MUT:BRCA2:Gly2724Arg	PROT:P51587	BRCA2	G	2724	R	G2724R	Likely pathogenic	1	1	180	17
MUT:BRCA2:Gly2724Val	PROT:P51587	BRCA2	G	2724	V	G2724V	Pathogenic/Likely pathogenic	1	4	180	17
MUT:BRCA2:Gly2743Cys	PROT:P51587	BRCA2	G	2743	C	G2743C	Likely benign	0	1	180	2
MUT:BRCA2:Gly2748Asp	PROT:P51587	BRCA2	G	2748	D	G2748D	Pathogenic	1	5	180	7
MUT:BRCA2:Gly2793Arg	PROT:P51587	BRCA2	G	2793	R	G2793R	Pathogenic/Likely pathogenic	1	6	180	52
MUT:BRCA2:Gly2793Glu	PROT:P51587	BRCA2	G	2793	E	G2793E	Pathogenic/Likely pathogenic	1	4	180	52
MUT:BRCA2:Gly2901Asp	PROT:P51587	BRCA2	G	2901	D	G2901D	Benign	0	7	180	19
MUT:BRCA2:Gly3076Arg	PROT:P51587	BRCA2	G	3076	R	G3076R	Likely pathogenic	1	1	180	45
MUT:BRCA2:Gly3076Glu	PROT:P51587	BRCA2	G	3076	E	G3076E	Likely pathogenic	1	5	180	45
MUT:BRCA2:Gly3076Val	PROT:P51587	BRCA2	G	3076	V	G3076V	Pathogenic	1	4	180	45
MUT:BRCA2:Gly3212Arg	PROT:P51587	BRCA2	G	3212	R	G3212R	Benign/Likely benign	0	4	180	1
MUT:BRCA2:Gly602Arg	PROT:P51587	BRCA2	G	602	R	G602R	Benign	0	3	180	1
MUT:BRCA2:His1467Leu	PROT:P51587	BRCA2	H	1467	L	H1467L	Likely benign	0	1	180	7
MUT:BRCA2:His179Arg	PROT:P51587	BRCA2	H	179	R	H179R	Likely benign	0	1	180	14
MUT:BRCA2:His1856Cys	PROT:P51587	BRCA2	H	1856	C	H1856C	Pathogenic	1	1	180	4
MUT:BRCA2:His1918Arg	PROT:P51587	BRCA2	H	1918	R	H1918R	Benign	0	4	180	8
MUT:BRCA2:His1918Tyr	PROT:P51587	BRCA2	H	1918	Y	H1918Y	Benign	0	5	180	8
MUT:BRCA2:His2074Asn	PROT:P51587	BRCA2	H	2074	N	H2074N	Benign	0	6	180	1
MUT:BRCA2:His2116Arg	PROT:P51587	BRCA2	H	2116	R	H2116R	Benign	0	6	180	8
MUT:BRCA2:His2178Tyr	PROT:P51587	BRCA2	H	2178	Y	H2178Y	Likely benign	0	2	180	8
MUT:BRCA2:His2417Gln	PROT:P51587	BRCA2	H	2417	Q	H2417Q	Likely benign	0	1	180	6
MUT:BRCA2:His2440Arg	PROT:P51587	BRCA2	H	2440	R	H2440R	Benign	0	8	180	8
MUT:BRCA2:His2548Asn	PROT:P51587	BRCA2	H	2548	N	H2548N	Benign	0	1	180	10
MUT:BRCA2:His2623Arg	PROT:P51587	BRCA2	H	2623	R	H2623R	Pathogenic/Likely pathogenic	1	6	180	1
MUT:BRCA2:His2623Pro	PROT:P51587	BRCA2	H	2623	P	H2623P	Likely pathogenic	1	1	180	1
MUT:BRCA2:His2623Tyr	PROT:P51587	BRCA2	H	2623	Y	H2623Y	Likely pathogenic	1	2	180	1
MUT:BRCA2:His282Pro	PROT:P51587	BRCA2	H	282	P	H282P	Likely benign	0	1	180	9
MUT:BRCA2:His3056Pro	PROT:P51587	BRCA2	H	3056	P	H3056P	Likely benign	0	1	180	25
MUT:BRCA2:His962Tyr	PROT:P51587	BRCA2	H	962	Y	H962Y	Likely benign	0	4	180	2
MUT:BRCA2:Ile1047Thr	PROT:P51587	BRCA2	I	1047	T	I1047T	Likely benign	0	1	180	47
MUT:BRCA2:Ile1065Asn	PROT:P51587	BRCA2	I	1065	N	I1065N	Likely benign	0	1	180	29
MUT:BRCA2:Ile1173Met	PROT:P51587	BRCA2	I	1173	M	I1173M	Likely benign	0	1	180	20
MUT:BRCA2:Ile1258Arg	PROT:P51587	BRCA2	I	1258	R	I1258R	Likely benign	0	2	180	6
MUT:BRCA2:Ile1258Lys	PROT:P51587	BRCA2	I	1258	K	I1258K	Likely benign	0	1	180	6
MUT:BRCA2:Ile1275Val	PROT:P51587	BRCA2	I	1275	V	I1275V	Likely benign	0	1	180	11
MUT:BRCA2:Ile1349Thr	PROT:P51587	BRCA2	I	1349	T	I1349T	Benign	0	4	180	6
MUT:BRCA2:Ile1364Leu	PROT:P51587	BRCA2	I	1364	L	I1364L	Benign	0	6	180	10
MUT:BRCA2:Ile1556Thr	PROT:P51587	BRCA2	I	1556	T	I1556T	Likely benign	0	1	180	7
MUT:BRCA2:Ile1607Asn	PROT:P51587	BRCA2	I	1607	N	I1607N	Likely benign	0	1	180	7
MUT:BRCA2:Ile1724Val	PROT:P51587	BRCA2	I	1724	V	I1724V	Benign/Likely benign	0	5	180	5
MUT:BRCA2:Ile1851Ser	PROT:P51587	BRCA2	I	1851	S	I1851S	Benign	0	5	180	9
MUT:BRCA2:Ile1929Val	PROT:P51587	BRCA2	I	1929	V	I1929V	Benign	0	6	180	3
MUT:BRCA2:Ile1945Val	PROT:P51587	BRCA2	I	1945	V	I1945V	Likely benign	0	1	180	1
MUT:BRCA2:Ile2285Val	PROT:P51587	BRCA2	I	2285	V	I2285V	Benign	0	5	180	1
MUT:BRCA2:Ile2315Leu	PROT:P51587	BRCA2	I	2315	L	I2315L	Likely benign	0	3	180	7
MUT:BRCA2:Ile2481Phe	PROT:P51587	BRCA2	I	2481	F	I2481F	Likely benign	0	1	180	17
MUT:BRCA2:Ile2490Thr	PROT:P51587	BRCA2	I	2490	T	I2490T	Benign	0	7	180	8
MUT:BRCA2:Ile2495Val	PROT:P51587	BRCA2	I	2495	V	I2495V	Likely benign	0	1	180	3
MUT:BRCA2:Ile2588Leu	PROT:P51587	BRCA2	I	2588	L	I2588L	Likely benign	0	1	180	6
MUT:BRCA2:Ile2627Asn	PROT:P51587	BRCA2	I	2627	N	I2627N	Likely pathogenic	1	2	180	3
MUT:BRCA2:Ile2627Phe	PROT:P51587	BRCA2	I	2627	F	I2627F	Pathogenic	1	6	180	3
MUT:BRCA2:Ile2664Phe	PROT:P51587	BRCA2	I	2664	F	I2664F	Likely benign	0	1	180	7
MUT:BRCA2:Ile2672Val	PROT:P51587	BRCA2	I	2672	V	I2672V	Likely benign	0	4	180	15
MUT:BRCA2:Ile2675Val	PROT:P51587	BRCA2	I	2675	V	I2675V	Pathogenic	1	6	180	18
MUT:BRCA2:Ile2752Val	PROT:P51587	BRCA2	I	2752	V	I2752V	Benign	0	1	180	11
MUT:BRCA2:Ile2944Phe	PROT:P51587	BRCA2	I	2944	F	I2944F	Benign	0	7	180	10
MUT:BRCA2:Ile3048Met	PROT:P51587	BRCA2	I	3048	M	I3048M	Benign	0	1	180	17
MUT:BRCA2:Ile3075Val	PROT:P51587	BRCA2	I	3075	V	I3075V	Benign	0	1	180	44
MUT:BRCA2:Ile3113Asn	PROT:P51587	BRCA2	I	3113	N	I3113N	Likely benign	0	1	180	66
MUT:BRCA2:Ile3113Ser	PROT:P51587	BRCA2	I	3113	S	I3113S	Likely benign	0	1	180	66
MUT:BRCA2:Ile3120Val	PROT:P51587	BRCA2	I	3120	V	I3120V	Likely benign	0	1	180	59
MUT:BRCA2:Ile3208Val	PROT:P51587	BRCA2	I	3208	V	I3208V	Likely benign	0	1	180	3
MUT:BRCA2:Ile3412Ser	PROT:P51587	BRCA2	I	3412	S	I3412S	Likely benign	0	1	180	25
MUT:BRCA2:Ile3412Val	PROT:P51587	BRCA2	I	3412	V	I3412V	Benign	0	9	180	25
MUT:BRCA2:Ile383Val	PROT:P51587	BRCA2	I	383	V	I383V	Likely benign	0	1	180	1
MUT:BRCA2:Ile449Val	PROT:P51587	BRCA2	I	449	V	I449V	Likely benign	0	1	180	2
MUT:BRCA2:Ile505Leu	PROT:P51587	BRCA2	I	505	L	I505L	Likely benign	0	1	180	3
MUT:BRCA2:Ile505Thr	PROT:P51587	BRCA2	I	505	T	I505T	Benign	0	7	180	3
MUT:BRCA2:Ile505Val	PROT:P51587	BRCA2	I	505	V	I505V	Likely benign	0	3	180	3
MUT:BRCA2:Ile542Met	PROT:P51587	BRCA2	I	542	M	I542M	Likely benign	0	1	180	31
MUT:BRCA2:Ile614Met	PROT:P51587	BRCA2	I	614	M	I614M	Likely benign	0	1	180	4
MUT:BRCA2:Ile921Asn	PROT:P51587	BRCA2	I	921	N	I921N	Likely benign	0	1	180	14
MUT:BRCA2:Leu1019Val	PROT:P51587	BRCA2	L	1019	V	L1019V	Benign	0	6	180	27
MUT:BRCA2:Leu117Phe	PROT:P51587	BRCA2	L	117	F	L117F	Likely benign	0	1	180	21
MUT:BRCA2:Leu1260Phe	PROT:P51587	BRCA2	L	1260	F	L1260F	Likely benign	0	1	180	4
MUT:BRCA2:Leu1260Ser	PROT:P51587	BRCA2	L	1260	S	L1260S	Likely benign	0	1	180	4
MUT:BRCA2:Leu1357Ile	PROT:P51587	BRCA2	L	1357	I	L1357I	Likely benign	0	1	180	14
MUT:BRCA2:Leu1384Val	PROT:P51587	BRCA2	L	1384	V	L1384V	Likely benign	0	1	180	3
MUT:BRCA2:Leu1522Phe	PROT:P51587	BRCA2	L	1522	F	L1522F	Likely benign	0	2	180	5
MUT:BRCA2:Leu1904Val	PROT:P51587	BRCA2	L	1904	V	L1904V	Benign	0	4	180	22
MUT:BRCA2:Leu2069Ser	PROT:P51587	BRCA2	L	2069	S	L2069S	Likely benign	0	1	180	2
MUT:BRCA2:Leu2396Phe	PROT:P51587	BRCA2	L	2396	F	L2396F	Benign	0	3	180	8
MUT:BRCA2:Leu2396Ser	PROT:P51587	BRCA2	L	2396	S	L2396S	Likely benign	0	1	180	8
MUT:BRCA2:Leu2480Ile	PROT:P51587	BRCA2	L	2480	I	L2480I	Likely benign	0	1	180	18
MUT:BRCA2:Leu2510Pro	PROT:P51587	BRCA2	L	2510	P	L2510P	Pathogenic/Likely pathogenic	1	4	180	4
MUT:BRCA2:Leu2512Phe	PROT:P51587	BRCA2	L	2512	F	L2512F	Benign	0	7	180	2
MUT:BRCA2:Leu2581Val	PROT:P51587	BRCA2	L	2581	V	L2581V	Likely benign	0	1	180	4
MUT:BRCA2:Leu2587Phe	PROT:P51587	BRCA2	L	2587	F	L2587F	Benign	0	6	180	7
MUT:BRCA2:Leu2604Pro	PROT:P51587	BRCA2	L	2604	P	L2604P	Likely pathogenic	1	4	180	7
MUT:BRCA2:Leu2614His	PROT:P51587	BRCA2	L	2614	H	L2614H	Likely benign	0	1	180	7
MUT:BRCA2:Leu2647Pro	PROT:P51587	BRCA2	L	2647	P	L2647P	Pathogenic/Likely pathogenic	1	4	180	7
MUT:BRCA2:Leu2653Pro	PROT:P51587	BRCA2	L	2653	P	L2653P	Pathogenic/Likely pathogenic	1	6	180	4
MUT:BRCA2:Leu2656Gln	PROT:P51587	BRCA2	L	2656	Q	L2656Q	Likely pathogenic	1	3	180	1
MUT:BRCA2:Leu2686Pro	PROT:P51587	BRCA2	L	2686	P	L2686P	Pathogenic/Likely pathogenic	1	3	180	29
MUT:BRCA2:Leu2688His	PROT:P51587	BRCA2	L	2688	H	L2688H	Likely pathogenic	1	1	180	31
MUT:BRCA2:Leu2688Pro	PROT:P51587	BRCA2	L	2688	P	L2688P	Pathogenic/Likely pathogenic	1	4	180	31
MUT:BRCA2:Leu2721His	PROT:P51587	BRCA2	L	2721	H	L2721H	Likely pathogenic	1	4	180	20
MUT:BRCA2:Leu2732Val	PROT:P51587	BRCA2	L	2732	V	L2732V	Likely benign	0	1	180	9
MUT:BRCA2:Leu2740Ile	PROT:P51587	BRCA2	L	2740	I	L2740I	Benign	0	1	180	1
MUT:BRCA2:Leu2753Phe	PROT:P51587	BRCA2	L	2753	F	L2753F	Benign	0	1	180	12
MUT:BRCA2:Leu2776Ile	PROT:P51587	BRCA2	L	2776	I	L2776I	Likely benign	0	1	180	35
MUT:BRCA2:Leu2792Arg	PROT:P51587	BRCA2	L	2792	R	L2792R	Likely pathogenic	1	3	180	51
MUT:BRCA2:Leu2792Pro	PROT:P51587	BRCA2	L	2792	P	L2792P	Likely pathogenic	1	4	180	51
MUT:BRCA2:Leu2805Ile	PROT:P51587	BRCA2	L	2805	I	L2805I	Likely benign	0	1	180	64
MUT:BRCA2:Leu2865Phe	PROT:P51587	BRCA2	L	2865	F	L2865F	Likely benign	0	1	180	17
MUT:BRCA2:Leu2885Val	PROT:P51587	BRCA2	L	2885	V	L2885V	Benign	0	1	180	3
MUT:BRCA2:Leu2890Arg	PROT:P51587	BRCA2	L	2890	R	L2890R	Likely benign	0	1	180	8
MUT:BRCA2:Leu2890Pro	PROT:P51587	BRCA2	L	2890	P	L2890P	Likely benign	0	1	180	8
MUT:BRCA2:Leu2917Phe	PROT:P51587	BRCA2	L	2917	F	L2917F	Likely benign	0	1	180	35
MUT:BRCA2:Leu2929Trp	PROT:P51587	BRCA2	L	2929	W	L2929W	Likely benign	0	1	180	25
MUT:BRCA2:Leu2936Val	PROT:P51587	BRCA2	L	2936	V	L2936V	Benign	0	1	180	18
MUT:BRCA2:Leu2987Arg	PROT:P51587	BRCA2	L	2987	R	L2987R	Likely pathogenic	1	1	180	22
MUT:BRCA2:Leu2987Val	PROT:P51587	BRCA2	L	2987	V	L2987V	Likely benign	0	1	180	22
MUT:BRCA2:Leu2996Ser	PROT:P51587	BRCA2	L	2996	S	L2996S	Likely benign	0	1	180	13
MUT:BRCA2:Leu3027Ile	PROT:P51587	BRCA2	L	3027	I	L3027I	Likely benign	0	1	180	4
MUT:BRCA2:Leu3055Ile	PROT:P51587	BRCA2	L	3055	I	L3055I	Likely benign	0	1	180	24
MUT:BRCA2:Leu3074Pro	PROT:P51587	BRCA2	L	3074	P	L3074P	Likely pathogenic	1	1	180	43
MUT:BRCA2:Leu3093Phe	PROT:P51587	BRCA2	L	3093	F	L3093F	Likely benign	0	1	180	62
MUT:BRCA2:Leu3101Arg	PROT:P51587	BRCA2	L	3101	R	L3101R	Pathogenic/Likely pathogenic	1	8	180	70
MUT:BRCA2:Leu3101Pro	PROT:P51587	BRCA2	L	3101	P	L3101P	Likely pathogenic	1	3	180	70
MUT:BRCA2:Leu3125His	PROT:P51587	BRCA2	L	3125	H	L3125H	Likely pathogenic	1	4	180	54
MUT:BRCA2:Leu3125Phe	PROT:P51587	BRCA2	L	3125	F	L3125F	Pathogenic/Likely pathogenic	1	3	180	54
MUT:BRCA2:Leu3180Phe	PROT:P51587	BRCA2	L	3180	F	L3180F	Benign	0	6	180	1
MUT:BRCA2:Leu3215His	PROT:P51587	BRCA2	L	3215	H	L3215H	Likely benign	0	1	180	4
MUT:BRCA2:Leu3215Pro	PROT:P51587	BRCA2	L	3215	P	L3215P	Likely benign	0	1	180	4
MUT:BRCA2:Leu3344His	PROT:P51587	BRCA2	L	3344	H	L3344H	Likely benign	0	1	180	21
MUT:BRCA2:Leu452Ile	PROT:P51587	BRCA2	L	452	I	L452I	Benign	0	3	180	1
MUT:BRCA2:Leu557Ser	PROT:P51587	BRCA2	L	557	S	L557S	Likely benign	0	1	180	24
MUT:BRCA2:Leu574Ser	PROT:P51587	BRCA2	L	574	S	L574S	Likely benign	0	1	180	7
MUT:BRCA2:Leu583Met	PROT:P51587	BRCA2	L	583	M	L583M	Likely benign	0	1	180	1
MUT:BRCA2:Leu639Ser	PROT:P51587	BRCA2	L	639	S	L639S	Likely benign	0	1	180	29
MUT:BRCA2:Leu759Phe	PROT:P51587	BRCA2	L	759	F	L759F	Likely benign	0	2	180	2
MUT:BRCA2:Leu779Val	PROT:P51587	BRCA2	L	779	V	L779V	Likely benign	0	1	180	20
MUT:BRCA2:Leu824Ser	PROT:P51587	BRCA2	L	824	S	L824S	Likely benign	0	5	180	5
MUT:BRCA2:Leu901Pro	PROT:P51587	BRCA2	L	901	P	L901P	Likely benign	0	1	180	6
MUT:BRCA2:Leu90Val	PROT:P51587	BRCA2	L	90	V	L90V	Likely benign	0	1	180	3
MUT:BRCA2:Leu929Ser	PROT:P51587	BRCA2	L	929	S	L929S	Benign	0	6	180	16
MUT:BRCA2:Leu996Arg	PROT:P51587	BRCA2	L	996	R	L996R	Benign	0	4	180	4
MUT:BRCA2:Lys1025Arg	PROT:P51587	BRCA2	K	1025	R	K1025R	Likely benign	0	2	180	33
MUT:BRCA2:Lys1082Glu	PROT:P51587	BRCA2	K	1082	E	K1082E	Likely benign	0	1	180	12
MUT:BRCA2:Lys1132Asn	PROT:P51587	BRCA2	K	1132	N	K1132N	Benign	0	1	180	0
MUT:BRCA2:Lys1139Arg	PROT:P51587	BRCA2	K	1139	R	K1139R	Likely benign	0	1	180	0
MUT:BRCA2:Lys1191Asn	PROT:P51587	BRCA2	K	1191	N	K1191N	Likely benign	0	1	180	6
MUT:BRCA2:Lys1274Gln	PROT:P51587	BRCA2	K	1274	Q	K1274Q	Likely benign	0	1	180	10
MUT:BRCA2:Lys1281Asn	PROT:P51587	BRCA2	K	1281	N	K1281N	Likely benign	0	1	180	17
MUT:BRCA2:Lys1286Asn	PROT:P51587	BRCA2	K	1286	N	K1286N	Likely benign	0	1	180	22
MUT:BRCA2:Lys1343Arg	PROT:P51587	BRCA2	K	1343	R	K1343R	Likely benign	0	1	180	0
MUT:BRCA2:Lys1406Arg	PROT:P51587	BRCA2	K	1406	R	K1406R	Likely benign	0	1	180	0
MUT:BRCA2:Lys1419Arg	PROT:P51587	BRCA2	K	1419	R	K1419R	Likely benign	0	1	180	0
MUT:BRCA2:Lys1531Asn	PROT:P51587	BRCA2	K	1531	N	K1531N	Likely benign	0	2	180	2
MUT:BRCA2:Lys1690Asn	PROT:P51587	BRCA2	K	1690	N	K1690N	Benign	0	6	180	0
MUT:BRCA2:Lys1691Gln	PROT:P51587	BRCA2	K	1691	Q	K1691Q	Likely benign	0	1	180	1
MUT:BRCA2:Lys172Asn	PROT:P51587	BRCA2	K	172	N	K172N	Likely pathogenic	1	2	180	21
MUT:BRCA2:Lys178Thr	PROT:P51587	BRCA2	K	178	T	K178T	Likely benign	0	1	180	15
MUT:BRCA2:Lys1821Asn	PROT:P51587	BRCA2	K	1821	N	K1821N	Likely benign	0	1	180	3
MUT:BRCA2:Lys1823Gln	PROT:P51587	BRCA2	K	1823	Q	K1823Q	Likely benign	0	2	180	5
MUT:BRCA2:Lys1828Glu	PROT:P51587	BRCA2	K	1828	E	K1828E	Likely benign	0	1	180	10
MUT:BRCA2:Lys1888Glu	PROT:P51587	BRCA2	K	1888	E	K1888E	Likely benign	0	1	180	16
MUT:BRCA2:Lys1944Glu	PROT:P51587	BRCA2	K	1944	E	K1944E	Likely benign	0	2	180	0
MUT:BRCA2:Lys1964Asn	PROT:P51587	BRCA2	K	1964	N	K1964N	Likely benign	0	1	180	3
MUT:BRCA2:Lys1984Asn	PROT:P51587	BRCA2	K	1984	N	K1984N	Benign	0	1	180	0
MUT:BRCA2:Lys2128Asn	PROT:P51587	BRCA2	K	2128	N	K2128N	Likely benign	0	2	180	4
MUT:BRCA2:Lys2339Asn	PROT:P51587	BRCA2	K	2339	N	K2339N	Benign	0	8	180	20
MUT:BRCA2:Lys2411Asn	PROT:P51587	BRCA2	K	2411	N	K2411N	Likely benign	0	1	180	0
MUT:BRCA2:Lys2411Glu	PROT:P51587	BRCA2	K	2411	E	K2411E	Likely benign	0	1	180	0
MUT:BRCA2:Lys2411Thr	PROT:P51587	BRCA2	K	2411	T	K2411T	Benign	0	4	180	0
MUT:BRCA2:Lys2446Glu	PROT:P51587	BRCA2	K	2446	E	K2446E	Likely benign	0	2	180	2
MUT:BRCA2:Lys2448Asn	PROT:P51587	BRCA2	K	2448	N	K2448N	Likely benign	0	1	180	0
MUT:BRCA2:Lys2472Thr	PROT:P51587	BRCA2	K	2472	T	K2472T	Benign	0	4	180	13
MUT:BRCA2:Lys2498Arg	PROT:P51587	BRCA2	K	2498	R	K2498R	Likely benign	0	1	180	0
MUT:BRCA2:Lys2524Asn	PROT:P51587	BRCA2	K	2524	N	K2524N	Likely benign	0	1	180	10
MUT:BRCA2:Lys2551Arg	PROT:P51587	BRCA2	K	2551	R	K2551R	Benign	0	1	180	13
MUT:BRCA2:Lys2555Thr	PROT:P51587	BRCA2	K	2555	T	K2555T	Likely benign	0	1	180	15
MUT:BRCA2:Lys2630Gln	PROT:P51587	BRCA2	K	2630	Q	K2630Q	Likely pathogenic	1	2	180	6
MUT:BRCA2:Lys2674Asn	PROT:P51587	BRCA2	K	2674	N	K2674N	Likely benign	0	1	180	17
MUT:BRCA2:Lys2674Met	PROT:P51587	BRCA2	K	2674	M	K2674M	Likely benign	0	1	180	17
MUT:BRCA2:Lys2715Arg	PROT:P51587	BRCA2	K	2715	R	K2715R	Likely benign	0	1	180	26
MUT:BRCA2:Lys2729Asn	PROT:P51587	BRCA2	K	2729	N	K2729N	Benign	0	7	180	12
MUT:BRCA2:Lys2833Asn	PROT:P51587	BRCA2	K	2833	N	K2833N	Likely benign	0	1	180	49
MUT:BRCA2:Lys2950Thr	PROT:P51587	BRCA2	K	2950	T	K2950T	Likely benign	0	1	180	4
MUT:BRCA2:Lys2979Gln	PROT:P51587	BRCA2	K	2979	Q	K2979Q	Benign	0	1	180	21
MUT:BRCA2:Lys3015Glu	PROT:P51587	BRCA2	K	3015	E	K3015E	Benign	0	3	180	6
MUT:BRCA2:Lys3019Asn	PROT:P51587	BRCA2	K	3019	N	K3019N	Benign	0	1	180	10
MUT:BRCA2:Lys3032Arg	PROT:P51587	BRCA2	K	3032	R	K3032R	Likely benign	0	1	180	1
MUT:BRCA2:Lys3059Glu	PROT:P51587	BRCA2	K	3059	E	K3059E	Benign	0	5	180	28
MUT:BRCA2:Lys3196Asn	PROT:P51587	BRCA2	K	3196	N	K3196N	Likely benign	0	1	180	0
MUT:BRCA2:Lys322Gln	PROT:P51587	BRCA2	K	322	Q	K322Q	Benign/Likely benign	0	7	180	21
MUT:BRCA2:Lys3315Arg	PROT:P51587	BRCA2	K	3315	R	K3315R	Likely benign	0	1	180	4
MUT:BRCA2:Lys3415Glu	PROT:P51587	BRCA2	K	3415	E	K3415E	Likely benign	0	1	180	28
MUT:BRCA2:Lys410Asn	PROT:P51587	BRCA2	K	410	N	K410N	Likely benign	0	1	180	16
MUT:BRCA2:Lys437Thr	PROT:P51587	BRCA2	K	437	T	K437T	Likely benign	0	1	180	6
MUT:BRCA2:Lys457Thr	PROT:P51587	BRCA2	K	457	T	K457T	Likely benign	0	1	180	0
MUT:BRCA2:Lys513Arg	PROT:P51587	BRCA2	K	513	R	K513R	Benign	0	6	180	2
MUT:BRCA2:Lys604Glu	PROT:P51587	BRCA2	K	604	E	K604E	Benign	0	5	180	3
MUT:BRCA2:Lys944Thr	PROT:P51587	BRCA2	K	944	T	K944T	Likely benign	0	1	180	1
MUT:BRCA2:Met1149Val	PROT:P51587	BRCA2	M	1149	V	M1149V	Benign/Likely benign	0	9	180	4
MUT:BRCA2:Met1272Arg	PROT:P51587	BRCA2	M	1272	R	M1272R	Likely benign	0	1	180	8
MUT:BRCA2:Met1Arg	PROT:P51587	BRCA2	M	1	R	M1R	Pathogenic	1	3	180	56
MUT:BRCA2:Met1Ile	PROT:P51587	BRCA2	M	1	I	M1I	Pathogenic	1	4	180	56
MUT:BRCA2:Met1Lys	PROT:P51587	BRCA2	M	1	K	M1K	Pathogenic/Likely pathogenic	1	1	180	56
MUT:BRCA2:Met1Thr	PROT:P51587	BRCA2	M	1	T	M1T	Pathogenic/Likely pathogenic	1	3	180	56
MUT:BRCA2:Met1Val	PROT:P51587	BRCA2	M	1	V	M1V	Pathogenic	1	1	180	56
MUT:BRCA2:Met2262Val	PROT:P51587	BRCA2	M	2262	V	M2262V	Likely benign	0	1	180	18
MUT:BRCA2:Met2676Thr	PROT:P51587	BRCA2	M	2676	T	M2676T	Benign/Likely benign	0	5	180	19
MUT:BRCA2:Met2952Thr	PROT:P51587	BRCA2	M	2952	T	M2952T	Likely benign	0	1	180	2
MUT:BRCA2:Met3322Leu	PROT:P51587	BRCA2	M	3322	L	M3322L	Likely benign	0	1	180	1
MUT:BRCA2:Met524Leu	PROT:P51587	BRCA2	M	524	L	M524L	Likely benign	0	1	180	13
MUT:BRCA2:Met784Leu	PROT:P51587	BRCA2	M	784	L	M784L	Likely benign	0	1	180	15
MUT:BRCA2:Met784Val	PROT:P51587	BRCA2	M	784	V	M784V	Benign	0	8	180	15
MUT:BRCA2:Phe1192Cys	PROT:P51587	BRCA2	F	1192	C	F1192C	Benign	0	3	180	5
MUT:BRCA2:Phe1524Val	PROT:P51587	BRCA2	F	1524	V	F1524V	Benign	0	5	180	4
MUT:BRCA2:Phe221Leu	PROT:P51587	BRCA2	F	221	L	F221L	Likely benign	0	5	180	4
MUT:BRCA2:Phe2457Leu	PROT:P51587	BRCA2	F	2457	L	F2457L	Likely benign	0	1	180	2
MUT:BRCA2:Phe2562Cys	PROT:P51587	BRCA2	F	2562	C	F2562C	Likely pathogenic	1	6	180	8
MUT:BRCA2:Phe266Leu	PROT:P51587	BRCA2	F	266	L	F266L	Likely benign	0	3	180	2
MUT:BRCA2:Phe2795Ile	PROT:P51587	BRCA2	F	2795	I	F2795I	Likely benign	0	1	180	54
MUT:BRCA2:Phe2795Val	PROT:P51587	BRCA2	F	2795	V	F2795V	Likely benign	0	1	180	54
MUT:BRCA2:Phe2873Ser	PROT:P51587	BRCA2	F	2873	S	F2873S	Likely benign	0	1	180	9
MUT:BRCA2:Phe2921Ile	PROT:P51587	BRCA2	F	2921	I	F2921I	Likely benign	0	1	180	33
MUT:BRCA2:Phe3057Val	PROT:P51587	BRCA2	F	3057	V	F3057V	Likely benign	0	1	180	26
MUT:BRCA2:Phe3060Ile	PROT:P51587	BRCA2	F	3060	I	F3060I	Benign	0	1	180	29
MUT:BRCA2:Phe3060Val	PROT:P51587	BRCA2	F	3060	V	F3060V	Likely benign	0	1	180	29
MUT:BRCA2:Phe3090Ser	PROT:P51587	BRCA2	F	3090	S	F3090S	Likely benign	0	1	180	59
MUT:BRCA2:Phe506Tyr	PROT:P51587	BRCA2	F	506	Y	F506Y	Likely benign	0	1	180	4
MUT:BRCA2:Phe922Leu	PROT:P51587	BRCA2	F	922	L	F922L	Likely benign	0	1	180	15
MUT:BRCA2:Pro1039Leu	PROT:P51587	BRCA2	P	1039	L	P1039L	Likely benign	0	2	180	47
MUT:BRCA2:Pro1171Ala	PROT:P51587	BRCA2	P	1171	A	P1171A	Likely benign	0	1	180	18
MUT:BRCA2:Pro168Thr	PROT:P51587	BRCA2	P	168	T	P168T	Benign	0	4	180	25
MUT:BRCA2:Pro1819Ser	PROT:P51587	BRCA2	P	1819	S	P1819S	Benign	0	7	180	1
MUT:BRCA2:Pro2276Ala	PROT:P51587	BRCA2	P	2276	A	P2276A	Likely benign	0	1	180	10
MUT:BRCA2:Pro2505Ser	PROT:P51587	BRCA2	P	2505	S	P2505S	Likely benign	0	1	180	7
MUT:BRCA2:Pro2532Ala	PROT:P51587	BRCA2	P	2532	A	P2532A	Likely benign	0	1	180	6
MUT:BRCA2:Pro2639Arg	PROT:P51587	BRCA2	P	2639	R	P2639R	Likely benign	0	1	180	1
MUT:BRCA2:Pro2734Arg	PROT:P51587	BRCA2	P	2734	R	P2734R	Likely benign	0	1	180	7
MUT:BRCA2:Pro2785Leu	PROT:P51587	BRCA2	P	2785	L	P2785L	Likely benign	0	6	180	44
MUT:BRCA2:Pro2785Thr	PROT:P51587	BRCA2	P	2785	T	P2785T	Likely benign	0	1	180	44
MUT:BRCA2:Pro2804Ala	PROT:P51587	BRCA2	P	2804	A	P2804A	Likely benign	0	1	180	63
MUT:BRCA2:Pro2804His	PROT:P51587	BRCA2	P	2804	H	P2804H	Likely benign	0	1	180	63
MUT:BRCA2:Pro2883Leu	PROT:P51587	BRCA2	P	2883	L	P2883L	Benign	0	1	180	1
MUT:BRCA2:Pro2886Gln	PROT:P51587	BRCA2	P	2886	Q	P2886Q	Benign	0	1	180	4
MUT:BRCA2:Pro2886Leu	PROT:P51587	BRCA2	P	2886	L	P2886L	Benign	0	1	180	4
MUT:BRCA2:Pro2886Thr	PROT:P51587	BRCA2	P	2886	T	P2886T	Benign	0	1	180	4
MUT:BRCA2:Pro2His	PROT:P51587	BRCA2	P	2	H	P2H	Likely benign	0	1	180	55
MUT:BRCA2:Pro3051Ala	PROT:P51587	BRCA2	P	3051	A	P3051A	Likely benign	0	1	180	20
MUT:BRCA2:Pro3063Ser	PROT:P51587	BRCA2	P	3063	S	P3063S	Benign/Likely benign	0	3	180	32
MUT:BRCA2:Pro3067Ser	PROT:P51587	BRCA2	P	3067	S	P3067S	Likely benign	0	2	180	36
MUT:BRCA2:Pro3129Thr	PROT:P51587	BRCA2	P	3129	T	P3129T	Likely benign	0	1	180	50
MUT:BRCA2:Pro3202Leu	PROT:P51587	BRCA2	P	3202	L	P3202L	Benign/Likely benign	0	3	180	3
MUT:BRCA2:Pro3292Leu	PROT:P51587	BRCA2	P	3292	L	P3292L	Benign	0	6	180	1
MUT:BRCA2:Pro375His	PROT:P51587	BRCA2	P	375	H	P375H	Likely benign	0	1	180	7
MUT:BRCA2:Pro375Ser	PROT:P51587	BRCA2	P	375	S	P375S	Benign	0	3	180	7
MUT:BRCA2:Pro389Gln	PROT:P51587	BRCA2	P	389	Q	P389Q	Benign	0	7	180	5
MUT:BRCA2:Pro40Ala	PROT:P51587	BRCA2	P	40	A	P40A	Likely benign	0	1	180	17
MUT:BRCA2:Pro41Ser	PROT:P51587	BRCA2	P	41	S	P41S	Benign	0	6	180	16
MUT:BRCA2:Pro655Arg	PROT:P51587	BRCA2	P	655	R	P655R	Benign	0	4	180	28
MUT:BRCA2:Pro721Gln	PROT:P51587	BRCA2	P	721	Q	P721Q	Likely benign	0	1	180	24
MUT:BRCA2:Pro740Leu	PROT:P51587	BRCA2	P	740	L	P740L	Likely benign	0	1	180	5
MUT:BRCA2:Pro773Ser	PROT:P51587	BRCA2	P	773	S	P773S	Likely benign	0	1	180	16
MUT:BRCA2:Pro814Ser	PROT:P51587	BRCA2	P	814	S	P814S	Likely benign	0	1	180	3
MUT:BRCA2:Pro835Ser	PROT:P51587	BRCA2	P	835	S	P835S	Likely benign	0	2	180	3
MUT:BRCA2:Ser1041Asn	PROT:P51587	BRCA2	S	1041	N	S1041N	Likely benign	0	2	180	49
MUT:BRCA2:Ser1075Asn	PROT:P51587	BRCA2	S	1075	N	S1075N	Likely benign	0	2	180	19
MUT:BRCA2:Ser1134Thr	PROT:P51587	BRCA2	S	1134	T	S1134T	Likely benign	0	3	180	2
MUT:BRCA2:Ser1172Leu	PROT:P51587	BRCA2	S	1172	L	S1172L	Benign	0	6	180	19
MUT:BRCA2:Ser1203Ile	PROT:P51587	BRCA2	S	1203	I	S1203I	Likely benign	0	1	180	1
MUT:BRCA2:Ser1424Cys	PROT:P51587	BRCA2	S	1424	C	S1424C	Benign	0	5	180	5
MUT:BRCA2:Ser1479Thr	PROT:P51587	BRCA2	S	1479	T	S1479T	Benign/Likely benign	0	5	180	5
MUT:BRCA2:Ser1558Thr	PROT:P51587	BRCA2	S	1558	T	S1558T	Likely benign	0	1	180	7
MUT:BRCA2:Ser1632Gly	PROT:P51587	BRCA2	S	1632	G	S1632G	Likely benign	0	1	180	0
MUT:BRCA2:Ser1733Phe	PROT:P51587	BRCA2	S	1733	F	S1733F	Benign	0	9	180	4
MUT:BRCA2:Ser1744Asn	PROT:P51587	BRCA2	S	1744	N	S1744N	Likely benign	0	1	180	15
MUT:BRCA2:Ser1764Leu	PROT:P51587	BRCA2	S	1764	L	S1764L	Likely benign	0	1	180	1
MUT:BRCA2:Ser1770Ala	PROT:P51587	BRCA2	S	1770	A	S1770A	Likely benign	0	1	180	0
MUT:BRCA2:Ser1848Thr	PROT:P51587	BRCA2	S	1848	T	S1848T	Likely benign	0	1	180	12
MUT:BRCA2:Ser2006Arg	PROT:P51587	BRCA2	S	2006	R	S2006R	Likely benign	0	3	180	2
MUT:BRCA2:Ser2012Pro	PROT:P51587	BRCA2	S	2012	P	S2012P	Likely benign	0	1	180	1
MUT:BRCA2:Ser2022Ala	PROT:P51587	BRCA2	S	2022	A	S2022A	Likely benign	0	1	180	5
MUT:BRCA2:Ser2143Ala	PROT:P51587	BRCA2	S	2143	A	S2143A	Likely benign	0	1	180	7
MUT:BRCA2:Ser2148Pro	PROT:P51587	BRCA2	S	2148	P	S2148P	Likely benign	0	1	180	2
MUT:BRCA2:Ser2152Tyr	PROT:P51587	BRCA2	S	2152	Y	S2152Y	Benign	0	4	180	0
MUT:BRCA2:Ser2219Leu	PROT:P51587	BRCA2	S	2219	L	S2219L	Likely benign	0	1	180	13
MUT:BRCA2:Ser231Asp	PROT:P51587	BRCA2	S	231	D	S231D	Pathogenic	1	1	180	1
MUT:BRCA2:Ser2546Pro	PROT:P51587	BRCA2	S	2546	P	S2546P	Likely benign	0	1	180	8
MUT:BRCA2:Ser2616Cys	PROT:P51587	BRCA2	S	2616	C	S2616C	Likely benign	0	1	180	5
MUT:BRCA2:Ser2670Leu	PROT:P51587	BRCA2	S	2670	L	S2670L	Pathogenic/Likely pathogenic	1	7	180	13
MUT:BRCA2:Ser2670Trp	PROT:P51587	BRCA2	S	2670	W	S2670W	Pathogenic	1	3	180	13
MUT:BRCA2:Ser2697Ile	PROT:P51587	BRCA2	S	2697	I	S2697I	Likely benign	0	1	180	40
MUT:BRCA2:Ser2701Phe	PROT:P51587	BRCA2	S	2701	F	S2701F	Likely benign	0	1	180	40
MUT:BRCA2:Ser2782Asn	PROT:P51587	BRCA2	S	2782	N	S2782N	Likely benign	0	1	180	41
MUT:BRCA2:Ser2810Cys	PROT:P51587	BRCA2	S	2810	C	S2810C	Likely benign	0	1	180	69
MUT:BRCA2:Ser2835Pro	PROT:P51587	BRCA2	S	2835	P	S2835P	Benign	0	7	180	47
MUT:BRCA2:Ser286Pro	PROT:P51587	BRCA2	S	286	P	S286P	Likely benign	0	3	180	13
MUT:BRCA2:Ser2922Gly	PROT:P51587	BRCA2	S	2922	G	S2922G	Benign	0	4	180	32
MUT:BRCA2:Ser2998Thr	PROT:P51587	BRCA2	S	2998	T	S2998T	Likely benign	0	1	180	11
MUT:BRCA2:Ser3016Tyr	PROT:P51587	BRCA2	S	3016	Y	S3016Y	Likely benign	0	2	180	7
MUT:BRCA2:Ser303Phe	PROT:P51587	BRCA2	S	303	F	S303F	Likely benign	0	1	180	30
MUT:BRCA2:Ser3241Pro	PROT:P51587	BRCA2	S	3241	P	S3241P	Likely benign	0	1	180	3
MUT:BRCA2:Ser3250Leu	PROT:P51587	BRCA2	S	3250	L	S3250L	Likely benign	0	1	180	12
MUT:BRCA2:Ser326Arg	PROT:P51587	BRCA2	S	326	R	S326R	Benign	0	10	180	17
MUT:BRCA2:Ser3303Arg	PROT:P51587	BRCA2	S	3303	R	S3303R	Likely benign	0	2	180	12
MUT:BRCA2:Ser3389Phe	PROT:P51587	BRCA2	S	3389	F	S3389F	Likely benign	0	3	180	2
MUT:BRCA2:Ser3397Cys	PROT:P51587	BRCA2	S	3397	C	S3397C	Likely benign	0	1	180	10
MUT:BRCA2:Ser384Phe	PROT:P51587	BRCA2	S	384	F	S384F	Benign	0	8	180	0
MUT:BRCA2:Ser417Cys	PROT:P51587	BRCA2	S	417	C	S417C	Likely benign	0	1	180	9
MUT:BRCA2:Ser496Ala	PROT:P51587	BRCA2	S	496	A	S496A	Likely benign	0	1	180	4
MUT:BRCA2:Ser599Phe	PROT:P51587	BRCA2	S	599	F	S599F	Benign	0	3	180	2
MUT:BRCA2:Ser5Cys	PROT:P51587	BRCA2	S	5	C	S5C	Likely benign	0	1	180	52
MUT:BRCA2:Ser646Arg	PROT:P51587	BRCA2	S	646	R	S646R	Benign	0	4	180	36
MUT:BRCA2:Ser646Asn	PROT:P51587	BRCA2	S	646	N	S646N	Likely benign	0	1	180	36
MUT:BRCA2:Ser942Leu	PROT:P51587	BRCA2	S	942	L	S942L	Likely benign	0	1	180	3
MUT:BRCA2:Ser958Gly	PROT:P51587	BRCA2	S	958	G	S958G	Likely benign	0	3	180	6
MUT:BRCA2:Ser976Phe	PROT:P51587	BRCA2	S	976	F	S976F	Benign/Likely benign	0	4	180	5
MUT:BRCA2:Ser976Thr	PROT:P51587	BRCA2	S	976	T	S976T	Benign/Likely benign	0	4	180	5
MUT:BRCA2:Thr1185Arg	PROT:P51587	BRCA2	T	1185	R	T1185R	Likely benign	0	1	180	12
MUT:BRCA2:Thr1302Asn	PROT:P51587	BRCA2	T	1302	N	T1302N	Likely benign	0	2	180	21
MUT:BRCA2:Thr1354Met	PROT:P51587	BRCA2	T	1354	M	T1354M	Benign	0	6	180	11
MUT:BRCA2:Thr1388Asn	PROT:P51587	BRCA2	T	1388	N	T1388N	Likely benign	0	2	180	6
MUT:BRCA2:Thr1414Met	PROT:P51587	BRCA2	T	1414	M	T1414M	Benign	0	7	180	1
MUT:BRCA2:Thr1526Arg	PROT:P51587	BRCA2	T	1526	R	T1526R	Likely benign	0	1	180	2
MUT:BRCA2:Thr1557Ser	PROT:P51587	BRCA2	T	1557	S	T1557S	Benign/Likely benign	0	6	180	8
MUT:BRCA2:Thr1586Ile	PROT:P51587	BRCA2	T	1586	I	T1586I	Likely benign	0	1	180	21
MUT:BRCA2:Thr1609Ile	PROT:P51587	BRCA2	T	1609	I	T1609I	Likely benign	0	1	180	5
MUT:BRCA2:Thr1609Pro	PROT:P51587	BRCA2	T	1609	P	T1609P	Likely benign	0	1	180	5
MUT:BRCA2:Thr1738Ile	PROT:P51587	BRCA2	T	1738	I	T1738I	Likely benign	0	1	180	9
MUT:BRCA2:Thr17Ala	PROT:P51587	BRCA2	T	17	A	T17A	Likely benign	0	1	180	40
MUT:BRCA2:Thr1915Met	PROT:P51587	BRCA2	T	1915	M	T1915M	Benign	0	6	180	11
MUT:BRCA2:Thr2097Lys	PROT:P51587	BRCA2	T	2097	K	T2097K	Likely benign	0	1	180	2
MUT:BRCA2:Thr2097Met	PROT:P51587	BRCA2	T	2097	M	T2097M	Benign	0	5	180	2
MUT:BRCA2:Thr2250Ala	PROT:P51587	BRCA2	T	2250	A	T2250A	Benign	0	4	180	6
MUT:BRCA2:Thr2515Ile	PROT:P51587	BRCA2	T	2515	I	T2515I	Benign	0	6	180	1
MUT:BRCA2:Thr2542Ala	PROT:P51587	BRCA2	T	2542	A	T2542A	Likely benign	0	1	180	4
MUT:BRCA2:Thr2542Arg	PROT:P51587	BRCA2	T	2542	R	T2542R	Benign	0	2	180	4
MUT:BRCA2:Thr2703Asn	PROT:P51587	BRCA2	T	2703	N	T2703N	Likely benign	0	1	180	38
MUT:BRCA2:Thr2708Ser	PROT:P51587	BRCA2	T	2708	S	T2708S	Benign	0	1	180	33
MUT:BRCA2:Thr2722Ala	PROT:P51587	BRCA2	T	2722	A	T2722A	Likely pathogenic	1	3	180	19
MUT:BRCA2:Thr2722Arg	PROT:P51587	BRCA2	T	2722	R	T2722R	Pathogenic	1	5	180	19
MUT:BRCA2:Thr2722Ile	PROT:P51587	BRCA2	T	2722	I	T2722I	Likely pathogenic	1	4	180	19
MUT:BRCA2:Thr2722Lys	PROT:P51587	BRCA2	T	2722	K	T2722K	Pathogenic/Likely pathogenic	1	3	180	19
MUT:BRCA2:Thr2746Ile	PROT:P51587	BRCA2	T	2746	I	T2746I	Likely benign	0	1	180	5
MUT:BRCA2:Thr2880Ile	PROT:P51587	BRCA2	T	2880	I	T2880I	Likely benign	0	1	180	2
MUT:BRCA2:Thr2881Pro	PROT:P51587	BRCA2	T	2881	P	T2881P	Benign	0	1	180	1
MUT:BRCA2:Thr3013Ile	PROT:P51587	BRCA2	T	3013	I	T3013I	Benign	0	8	180	4
MUT:BRCA2:Thr3030Ile	PROT:P51587	BRCA2	T	3030	I	T3030I	Likely benign	0	1	180	1
MUT:BRCA2:Thr3085Arg	PROT:P51587	BRCA2	T	3085	R	T3085R	Likely benign	0	1	180	54
MUT:BRCA2:Thr3085Ile	PROT:P51587	BRCA2	T	3085	I	T3085I	Pathogenic	1	1	180	54
MUT:BRCA2:Thr317Arg	PROT:P51587	BRCA2	T	317	R	T317R	Likely benign	0	2	180	26
MUT:BRCA2:Thr3349Ala	PROT:P51587	BRCA2	T	3349	A	T3349A	Benign	0	4	180	26
MUT:BRCA2:Thr3371Ala	PROT:P51587	BRCA2	T	3371	A	T3371A	Benign/Likely benign	0	5	180	16
MUT:BRCA2:Thr3374Ile	PROT:P51587	BRCA2	T	3374	I	T3374I	Benign	0	5	180	13
MUT:BRCA2:Thr3411Ala	PROT:P51587	BRCA2	T	3411	A	T3411A	Likely benign	0	1	180	24
MUT:BRCA2:Thr3413Ala	PROT:P51587	BRCA2	T	3413	A	T3413A	Likely benign	0	1	180	26
MUT:BRCA2:Thr3413Ile	PROT:P51587	BRCA2	T	3413	I	T3413I	Likely benign	0	2	180	26
MUT:BRCA2:Thr582Pro	PROT:P51587	BRCA2	T	582	P	T582P	Benign	0	6	180	0
MUT:BRCA2:Thr598Ala	PROT:P51587	BRCA2	T	598	A	T598A	Benign	0	7	180	3
MUT:BRCA2:Thr630Ile	PROT:P51587	BRCA2	T	630	I	T630I	Benign	0	6	180	20
MUT:BRCA2:Thr680Ala	PROT:P51587	BRCA2	T	680	A	T680A	Likely benign	0	1	180	3
MUT:BRCA2:Thr87Ile	PROT:P51587	BRCA2	T	87	I	T87I	Likely benign	0	1	180	6
MUT:BRCA2:Trp2619Cys	PROT:P51587	BRCA2	W	2619	C	W2619C	Likely pathogenic	1	4	180	2
MUT:BRCA2:Trp2619Gly	PROT:P51587	BRCA2	W	2619	G	W2619G	Pathogenic	1	1	180	2
MUT:BRCA2:Trp2626Arg	PROT:P51587	BRCA2	W	2626	R	W2626R	Pathogenic/Likely pathogenic	1	2	180	2
MUT:BRCA2:Trp2626Cys	PROT:P51587	BRCA2	W	2626	C	W2626C	Pathogenic	1	9	180	2
MUT:BRCA2:Trp2788Arg	PROT:P51587	BRCA2	W	2788	R	W2788R	Likely pathogenic	1	4	180	47
MUT:BRCA2:Trp3106Arg	PROT:P51587	BRCA2	W	3106	R	W3106R	Likely benign	0	1	180	73
MUT:BRCA2:Trp31Arg	PROT:P51587	BRCA2	W	31	R	W31R	Likely pathogenic	1	3	180	26
MUT:BRCA2:Trp31Ser	PROT:P51587	BRCA2	W	31	S	W31S	Likely pathogenic	1	2	180	26
MUT:BRCA2:Tyr1135His	PROT:P51587	BRCA2	Y	1135	H	Y1135H	Likely benign	0	2	180	3
MUT:BRCA2:Tyr1480His	PROT:P51587	BRCA2	Y	1480	H	Y1480H	Likely benign	0	1	180	6
MUT:BRCA2:Tyr1716Cys	PROT:P51587	BRCA2	Y	1716	C	Y1716C	Likely benign	0	1	180	13
MUT:BRCA2:Tyr1751Ser	PROT:P51587	BRCA2	Y	1751	S	Y1751S	Likely benign	0	1	180	14
MUT:BRCA2:Tyr1894His	PROT:P51587	BRCA2	Y	1894	H	Y1894H	Likely benign	0	1	180	22
MUT:BRCA2:Tyr2567His	PROT:P51587	BRCA2	Y	2567	H	Y2567H	Likely benign	0	1	180	3
MUT:BRCA2:Tyr2601Cys	PROT:P51587	BRCA2	Y	2601	C	Y2601C	Likely pathogenic	1	2	180	4
MUT:BRCA2:Tyr2624Asp	PROT:P51587	BRCA2	Y	2624	D	Y2624D	Pathogenic	1	1	180	0
MUT:BRCA2:Tyr2660Asp	PROT:P51587	BRCA2	Y	2660	D	Y2660D	Pathogenic/Likely pathogenic	1	3	180	3
MUT:BRCA2:Tyr2726Asn	PROT:P51587	BRCA2	Y	2726	N	Y2726N	Likely pathogenic	1	1	180	15
MUT:BRCA2:Tyr2726Cys	PROT:P51587	BRCA2	Y	2726	C	Y2726C	Pathogenic/Likely pathogenic	1	5	180	15
MUT:BRCA2:Tyr2789Phe	PROT:P51587	BRCA2	Y	2789	F	Y2789F	Likely benign	0	1	180	48
MUT:BRCA2:Tyr2884Phe	PROT:P51587	BRCA2	Y	2884	F	Y2884F	Benign/Likely benign	0	1	180	2
MUT:BRCA2:Tyr2920His	PROT:P51587	BRCA2	Y	2920	H	Y2920H	Benign	0	1	180	34
MUT:BRCA2:Tyr2977Cys	PROT:P51587	BRCA2	Y	2977	C	Y2977C	Benign	0	1	180	19
MUT:BRCA2:Tyr3006Asp	PROT:P51587	BRCA2	Y	3006	D	Y3006D	Pathogenic	1	5	180	3
MUT:BRCA2:Tyr3035Phe	PROT:P51587	BRCA2	Y	3035	F	Y3035F	Benign	0	1	180	4
MUT:BRCA2:Tyr3098His	PROT:P51587	BRCA2	Y	3098	H	Y3098H	Benign	0	6	180	67
MUT:BRCA2:Tyr3225Asn	PROT:P51587	BRCA2	Y	3225	N	Y3225N	Likely benign	0	1	180	13
MUT:BRCA2:Tyr42Cys	PROT:P51587	BRCA2	Y	42	C	Y42C	Benign	0	7	180	15
MUT:BRCA2:Tyr600His	PROT:P51587	BRCA2	Y	600	H	Y600H	Benign	0	5	180	1
MUT:BRCA2:Tyr748Cys	PROT:P51587	BRCA2	Y	748	C	Y748C	Likely benign	0	1	180	3
MUT:BRCA2:Tyr828Cys	PROT:P51587	BRCA2	Y	828	C	Y828C	Likely benign	0	2	180	1
MUT:BRCA2:Tyr828His	PROT:P51587	BRCA2	Y	828	H	Y828H	Likely benign	0	5	180	1
MUT:BRCA2:Tyr989Asp	PROT:P51587	BRCA2	Y	989	D	Y989D	Likely benign	0	2	180	3
MUT:BRCA2:Val1078Gly	PROT:P51587	BRCA2	V	1078	G	V1078G	Likely benign	0	2	180	16
MUT:BRCA2:Val1238Gly	PROT:P51587	BRCA2	V	1238	G	V1238G	Likely benign	0	1	180	1
MUT:BRCA2:Val1283Gly	PROT:P51587	BRCA2	V	1283	G	V1283G	Likely benign	0	2	180	19
MUT:BRCA2:Val1306Ile	PROT:P51587	BRCA2	V	1306	I	V1306I	Benign	0	3	180	17
MUT:BRCA2:Val1306Leu	PROT:P51587	BRCA2	V	1306	L	V1306L	Likely benign	0	1	180	17
MUT:BRCA2:Val1347Ala	PROT:P51587	BRCA2	V	1347	A	V1347A	Likely benign	0	1	180	4
MUT:BRCA2:Val1497Phe	PROT:P51587	BRCA2	V	1497	F	V1497F	Likely benign	0	2	180	5
MUT:BRCA2:Val159Met	PROT:P51587	BRCA2	V	159	M	V159M	Pathogenic/Likely pathogenic	1	5	180	34
MUT:BRCA2:Val1775Leu	PROT:P51587	BRCA2	V	1775	L	V1775L	Likely benign	0	3	180	2
MUT:BRCA2:Val2050Gly	PROT:P51587	BRCA2	V	2050	G	V2050G	Likely benign	0	1	180	9
MUT:BRCA2:Val211Ile	PROT:P51587	BRCA2	V	211	I	V211I	Pathogenic	1	5	180	4
MUT:BRCA2:Val211Leu	PROT:P51587	BRCA2	V	211	L	V211L	Pathogenic/Likely pathogenic	1	4	180	4
MUT:BRCA2:Val2138Ile	PROT:P51587	BRCA2	V	2138	I	V2138I	Likely benign	0	1	180	12
MUT:BRCA2:Val2211Ile	PROT:P51587	BRCA2	V	2211	I	V2211I	Likely benign	0	1	180	5
MUT:BRCA2:Val2407Glu	PROT:P51587	BRCA2	V	2407	E	V2407E	Pathogenic	1	1	180	3
MUT:BRCA2:Val2466Ala	PROT:P51587	BRCA2	V	2466	A	V2466A	Benign	0	6	180	7
MUT:BRCA2:Val2503Leu	PROT:P51587	BRCA2	V	2503	L	V2503L	Benign	0	1	180	5
MUT:BRCA2:Val2531Ala	PROT:P51587	BRCA2	V	2531	A	V2531A	Likely benign	0	1	180	7
MUT:BRCA2:Val2652Gly	PROT:P51587	BRCA2	V	2652	G	V2652G	Likely pathogenic	1	3	180	5
MUT:BRCA2:Val2728Ile	PROT:P51587	BRCA2	V	2728	I	V2728I	Benign	0	8	180	13
MUT:BRCA2:Val2728Phe	PROT:P51587	BRCA2	V	2728	F	V2728F	Likely benign	0	1	180	13
MUT:BRCA2:Val2820Ala	PROT:P51587	BRCA2	V	2820	A	V2820A	Likely benign	0	2	180	62
MUT:BRCA2:Val2820Ile	PROT:P51587	BRCA2	V	2820	I	V2820I	Likely benign	0	1	180	62
MUT:BRCA2:Val2855Met	PROT:P51587	BRCA2	V	2855	M	V2855M	Benign	0	1	180	27
MUT:BRCA2:Val2969Met	PROT:P51587	BRCA2	V	2969	M	V2969M	Benign	0	6	180	11
MUT:BRCA2:Val3079Ile	PROT:P51587	BRCA2	V	3079	I	V3079I	Benign	0	7	180	48
MUT:BRCA2:Val3082Leu	PROT:P51587	BRCA2	V	3082	L	V3082L	Likely benign	0	1	180	51
MUT:BRCA2:Val3244Ile	PROT:P51587	BRCA2	V	3244	I	V3244I	Benign	0	8	180	6
MUT:BRCA2:Val3365Ile	PROT:P51587	BRCA2	V	3365	I	V3365I	Likely benign	0	1	180	22
MUT:BRCA2:Val358Ala	PROT:P51587	BRCA2	V	358	A	V358A	Likely benign	0	1	180	5
MUT:BRCA2:Val358Met	PROT:P51587	BRCA2	V	358	M	V358M	Likely benign	0	1	180	5
MUT:BRCA2:Val545Ile	PROT:P51587	BRCA2	V	545	I	V545I	Likely benign	0	1	180	34
MUT:BRCA2:Val741Leu	PROT:P51587	BRCA2	V	741	L	V741L	Likely benign	0	3	180	4
MUT:BRCA2:Val875Leu	PROT:P51587	BRCA2	V	875	L	V875L	Likely benign	0	2	180	4
MUT:BRCA2:Val894Ile	PROT:P51587	BRCA2	V	894	I	V894I	Benign	0	5	180	10
MUT:BRSK2:Arg355Gln	PROT:Q8IWQ3	BRSK2	R	355	Q	R355Q	Likely benign	0	1	19	12
MUT:BRSK2:Arg398Gln	PROT:Q8IWQ3	BRSK2	R	398	Q	R398Q	Likely benign	0	1	19	5
MUT:BRSK2:Arg399Gln	PROT:Q8IWQ3	BRSK2	R	399	Q	R399Q	Likely benign	0	1	19	6
MUT:BRSK2:Arg429Trp	PROT:Q8IWQ3	BRSK2	R	429	W	R429W	Likely benign	0	1	19	2
MUT:BRSK2:Glu402Asp	PROT:Q8IWQ3	BRSK2	E	402	D	E402D	Likely benign	0	1	19	9
MUT:BRSK2:Gly28Arg	PROT:Q8IWQ3	BRSK2	G	28	R	G28R	Likely pathogenic	1	1	19	146
MUT:BRSK2:Gly391Ser	PROT:Q8IWQ3	BRSK2	G	391	S	G391S	Likely benign	0	1	19	2
MUT:BRSK2:Gly407Ser	PROT:Q8IWQ3	BRSK2	G	407	S	G407S	Likely benign	0	1	19	5
MUT:BRSK2:Gly578Ala	PROT:Q8IWQ3	BRSK2	G	578	A	G578A	Benign/Likely benign	0	1	19	65
MUT:BRSK2:Gly657Arg	PROT:Q8IWQ3	BRSK2	G	657	R	G657R	Likely benign	0	1	19	144
MUT:BRSK2:Lys152Asn	PROT:Q8IWQ3	BRSK2	K	152	N	K152N	Likely benign	0	1	19	22
MUT:BRSK2:Lys539Asn	PROT:Q8IWQ3	BRSK2	K	539	N	K539N	Likely pathogenic	1	1	19	26
MUT:BRSK2:Met655Thr	PROT:Q8IWQ3	BRSK2	M	655	T	M655T	Likely benign	0	1	19	142
MUT:BRSK2:Pro184His	PROT:Q8IWQ3	BRSK2	P	184	H	P184H	Likely pathogenic	1	1	19	10
MUT:BRSK2:Pro500Leu	PROT:Q8IWQ3	BRSK2	P	500	L	P500L	Likely benign	0	1	19	6
MUT:BRSK2:Pro728Leu	PROT:Q8IWQ3	BRSK2	P	728	L	P728L	Likely benign	0	1	19	215
MUT:BRSK2:Pro729His	PROT:Q8IWQ3	BRSK2	P	729	H	P729H	Likely benign	0	1	19	216
MUT:BRSK2:Thr451Met	PROT:Q8IWQ3	BRSK2	T	451	M	T451M	Likely benign	0	1	19	4
MUT:BRSK2:Thr656Met	PROT:Q8IWQ3	BRSK2	T	656	M	T656M	Likely benign	0	1	19	143
MUT:BRSK2:Thr719Lys	PROT:Q8IWQ3	BRSK2	T	719	K	T719K	Benign	0	1	19	206
MUT:BRSK2:Thr730Ala	PROT:Q8IWQ3	BRSK2	T	730	A	T730A	Benign	0	1	19	217
MUT:BRWD1:Arg219His	PROT:Q9NSI6	BRWD1	R	219	H	R219H	Likely pathogenic	1	1	38	74
MUT:BRWD1:Arg925Gln	PROT:Q9NSI6	BRWD1	R	925	Q	R925Q	Likely benign	0	1	38	108
MUT:BRWD1:Gln1858Leu	PROT:Q9NSI6	BRWD1	Q	1858	L	Q1858L	Likely pathogenic	1	2	38	3
MUT:BRWD1:Ile1468Val	PROT:Q9NSI6	BRWD1	I	1468	V	I1468V	Benign	0	2	38	137
MUT:BRWD1:Ile1818Val	PROT:Q9NSI6	BRWD1	I	1818	V	I1818V	Likely benign	0	1	38	2
MUT:BRWD1:Ile2140Thr	PROT:Q9NSI6	BRWD1	I	2140	T	I2140T	Benign	0	1	38	1
MUT:BRWD1:Leu1965Phe	PROT:Q9NSI6	BRWD1	L	1965	F	L1965F	Likely benign	0	1	38	61
MUT:BRWD1:Lys156Arg	PROT:Q9NSI6	BRWD1	K	156	R	K156R	Likely benign	0	1	38	11
MUT:BRWD1:Lys2156Arg	PROT:Q9NSI6	BRWD1	K	2156	R	K2156R	Likely benign	0	1	38	17
MUT:BRWD1:Met1035Thr	PROT:Q9NSI6	BRWD1	M	1035	T	M1035T	Likely benign	0	1	38	2
MUT:BRWD1:Met670Ile	PROT:Q9NSI6	BRWD1	M	670	I	M670I	Benign	0	1	38	21
MUT:BRWD1:Ser1548Thr	PROT:Q9NSI6	BRWD1	S	1548	T	S1548T	Likely benign	0	1	38	57
MUT:BRWD1:Thr2050Ala	PROT:Q9NSI6	BRWD1	T	2050	A	T2050A	Benign	0	1	38	68
MUT:BRWD1:Val1532Met	PROT:Q9NSI6	BRWD1	V	1532	M	V1532M	Benign	0	1	38	73
MUT:BRWD3:Ala955Gly	PROT:Q6RI45	BRWD3	A	955	G	A955G	Pathogenic	1	1	18	69
MUT:BRWD3:Arg1193Gln	PROT:Q6RI45	BRWD3	R	1193	Q	R1193Q	Benign/Likely benign	0	1	18	63
MUT:BRWD3:Arg1292Gln	PROT:Q6RI45	BRWD3	R	1292	Q	R1292Q	Likely benign	0	1	18	36
MUT:BRWD3:Arg1395His	PROT:Q6RI45	BRWD3	R	1395	H	R1395H	Likely benign	0	1	18	9
MUT:BRWD3:Arg1740His	PROT:Q6RI45	BRWD3	R	1740	H	R1740H	Likely benign	0	1	18	141
MUT:BRWD3:Arg497Gln	PROT:Q6RI45	BRWD3	R	497	Q	R497Q	Likely benign	0	1	18	159
MUT:BRWD3:Asp1249Asn	PROT:Q6RI45	BRWD3	D	1249	N	D1249N	Benign/Likely benign	0	1	18	7
MUT:BRWD3:Asp1516His	PROT:Q6RI45	BRWD3	D	1516	H	D1516H	Likely benign	0	1	18	50
MUT:BRWD3:Gln103His	PROT:Q6RI45	BRWD3	Q	103	H	Q103H	Likely benign	0	1	18	165
MUT:BRWD3:Gln1551Glu	PROT:Q6RI45	BRWD3	Q	1551	E	Q1551E	Likely benign	0	1	18	18
MUT:BRWD3:Glu86Lys	PROT:Q6RI45	BRWD3	E	86	K	E86K	Likely pathogenic	1	1	18	182
MUT:BRWD3:Gly1525Ser	PROT:Q6RI45	BRWD3	G	1525	S	G1525S	Likely benign	0	1	18	44
MUT:BRWD3:Ile146Val	PROT:Q6RI45	BRWD3	I	146	V	I146V	Likely benign	0	2	18	122
MUT:BRWD3:Lys1288Arg	PROT:Q6RI45	BRWD3	K	1288	R	K1288R	Benign	0	1	18	32
MUT:BRWD3:Lys1596Glu	PROT:Q6RI45	BRWD3	K	1596	E	K1596E	Pathogenic	1	1	18	3
MUT:BRWD3:Met1Thr	PROT:Q6RI45	BRWD3	M	1	T	M1T	Likely pathogenic	1	1	18	267
MUT:BRWD3:Pro163His	PROT:Q6RI45	BRWD3	P	163	H	P163H	Likely pathogenic	1	1	18	105
MUT:BRWD3:Ser848Gly	PROT:Q6RI45	BRWD3	S	848	G	S848G	Benign/Likely benign	0	1	18	37
MUT:BRWD3:Trp1138Leu	PROT:Q6RI45	BRWD3	W	1138	L	W1138L	Pathogenic	1	1	18	118
MUT:BRWD3:Val257Ile	PROT:Q6RI45	BRWD3	V	257	I	V257I	Benign/Likely benign	0	1	18	11
MUT:BSN:Ala741Thr	PROT:Q9UPA5	BSN	A	741	T	A741T	Benign	0	1	26	83
MUT:BSN:Arg2414Gln	PROT:Q9UPA5	BSN	R	2414	Q	R2414Q	Likely benign	0	1	26	137
MUT:BSN:Arg3664Gln	PROT:Q9UPA5	BSN	R	3664	Q	R3664Q	Likely benign	0	1	26	291
MUT:BSN:Gly1213Asp	PROT:Q9UPA5	BSN	G	1213	D	G1213D	Benign	0	1	26	109
MUT:BSN:Pro1381Leu	PROT:Q9UPA5	BSN	P	1381	L	P1381L	Likely benign	0	1	26	19
MUT:BSN:Pro2484Thr	PROT:Q9UPA5	BSN	P	2484	T	P2484T	Benign	0	1	26	67
MUT:BSN:Pro3762Thr	PROT:Q9UPA5	BSN	P	3762	T	P3762T	Likely benign	0	1	26	389
MUT:BSN:Pro3888Leu	PROT:Q9UPA5	BSN	P	3888	L	P3888L	Benign	0	1	26	515
MUT:BSN:Ser3815Asn	PROT:Q9UPA5	BSN	S	3815	N	S3815N	Benign	0	1	26	442
MUT:BSN:Thr1232Ile	PROT:Q9UPA5	BSN	T	1232	I	T1232I	Benign	0	1	26	128
MUT:BSN:Thr128Met	PROT:Q9UPA5	BSN	T	128	M	T128M	Likely benign	0	1	26	10
MUT:BSN:Tyr3553Cys	PROT:Q9UPA5	BSN	Y	3553	C	Y3553C	Likely benign	0	1	26	180
MUT:BTAF1:Arg1692Gln	PROT:O14981	BTAF1	R	1692	Q	R1692Q	Likely benign	0	14	15	12
MUT:BTG2:Gln43Pro	PROT:P78543	BTG2	Q	43	P	Q43P	Likely benign	0	1	1	15
MUT:BTN2A2:Ala192Ser	PROT:Q8WVV5	BTN2A2	A	192	S	A192S	Likely benign	0	1	11	40
MUT:BTN2A2:Ala336Thr	PROT:Q8WVV5	BTN2A2	A	336	T	A336T	Benign	0	1	11	29
MUT:BTN2A2:Arg428Trp	PROT:Q8WVV5	BTN2A2	R	428	W	R428W	Benign	0	1	11	4
MUT:BTN2A2:Gly203Ser	PROT:Q8WVV5	BTN2A2	G	203	S	G203S	Benign	0	1	11	51
MUT:BTN2A2:His401Asp	PROT:Q8WVV5	BTN2A2	H	401	D	H401D	Likely benign	0	1	11	31
MUT:BTN2A2:Met506Thr	PROT:Q8WVV5	BTN2A2	M	506	T	M506T	Likely benign	0	1	11	7
MUT:BTN2A2:Pro479Ser	PROT:Q8WVV5	BTN2A2	P	479	S	P479S	Benign	0	1	11	34
MUT:BTN2A2:Tyr460Cys	PROT:Q8WVV5	BTN2A2	Y	460	C	Y460C	Benign	0	1	11	20
MUT:BTRC:Ala543Ser	PROT:Q9Y297	BTRC	A	543	S	A543S	Benign	0	1	7	16
MUT:BTRC:Pro592Arg	PROT:Q9Y297	BTRC	P	592	R	P592R	Likely benign	0	1	7	5
MUT:BTRC:Pro592His	PROT:Q9Y297	BTRC	P	592	H	P592H	Benign	0	1	7	5
MUT:BTRC:Thr414Ala	PROT:Q9Y297	BTRC	T	414	A	T414A	Benign	0	1	7	88
MUT:BUB1:Ala226Val	PROT:O43683	BUB1	A	226	V	A226V	Benign/Likely benign	0	1	68	7
MUT:BUB1:Ser492Tyr	PROT:O43683	BUB1	S	492	Y	S492Y	Pathogenic	1	1	68	14
MUT:BUB1B:Ala553Thr	PROT:O60566	BUB1B	A	553	T	A553T	Likely benign	0	1	58	10
MUT:BUB1B:Ala693Thr	PROT:O60566	BUB1B	A	693	T	A693T	Likely benign	0	1	58	4
MUT:BUB1B:Ala784Thr	PROT:O60566	BUB1B	A	784	T	A784T	Likely benign	0	1	58	8
MUT:BUB1B:Arg349Gln	PROT:O60566	BUB1B	R	349	Q	R349Q	Benign	0	1	58	31
MUT:BUB1B:Arg550Gln	PROT:O60566	BUB1B	R	550	Q	R550Q	Benign/Likely benign	0	2	58	7
MUT:BUB1B:Asn1004Ser	PROT:O60566	BUB1B	N	1004	S	N1004S	Benign/Likely benign	0	3	58	4
MUT:BUB1B:Asn268Ser	PROT:O60566	BUB1B	N	268	S	N268S	Likely benign	0	1	58	18
MUT:BUB1B:Asp818Glu	PROT:O60566	BUB1B	D	818	E	D818E	Likely benign	0	1	58	26
MUT:BUB1B:Gln467His	PROT:O60566	BUB1B	Q	467	H	Q467H	Likely pathogenic	1	1	58	8
MUT:BUB1B:Gln481Arg	PROT:O60566	BUB1B	Q	481	R	Q481R	Likely benign	0	1	58	2
MUT:BUB1B:Gln500Arg	PROT:O60566	BUB1B	Q	500	R	Q500R	Likely benign	0	1	58	12
MUT:BUB1B:Glu218Gly	PROT:O60566	BUB1B	E	218	G	E218G	Likely benign	0	1	58	8
MUT:BUB1B:Glu390Asp	PROT:O60566	BUB1B	E	390	D	E390D	Benign	0	3	58	6
MUT:BUB1B:Gly1013Arg	PROT:O60566	BUB1B	G	1013	R	G1013R	Likely benign	0	1	58	5
MUT:BUB1B:His321Tyr	PROT:O60566	BUB1B	H	321	Y	H321Y	Likely benign	0	1	58	3
MUT:BUB1B:Leu258Phe	PROT:O60566	BUB1B	L	258	F	L258F	Likely benign	0	2	58	8
MUT:BUB1B:Lys1040Arg	PROT:O60566	BUB1B	K	1040	R	K1040R	Benign	0	1	58	0
MUT:BUB1B:Met300Val	PROT:O60566	BUB1B	M	300	V	M300V	Likely benign	0	1	58	4
MUT:BUB1B:Phe822Leu	PROT:O60566	BUB1B	F	822	L	F822L	Likely benign	0	1	58	30
MUT:BUB1B:Phe977Leu	PROT:O60566	BUB1B	F	977	L	F977L	Likely benign	0	1	58	11
MUT:BUB1B:Pro301Ser	PROT:O60566	BUB1B	P	301	S	P301S	Likely benign	0	1	58	3
MUT:BUB1B:Thr1042Ile	PROT:O60566	BUB1B	T	1042	I	T1042I	Likely benign	0	1	58	0
MUT:BUB1B:Thr284Arg	PROT:O60566	BUB1B	T	284	R	T284R	Likely benign	0	1	58	20
MUT:BUB1B:Thr284Ile	PROT:O60566	BUB1B	T	284	I	T284I	Likely benign	0	1	58	20
MUT:BUB1B:Thr40Met	PROT:O60566	BUB1B	T	40	M	T40M	Benign/Likely benign	0	2	58	0
MUT:BUB1B:Thr464Ala	PROT:O60566	BUB1B	T	464	A	T464A	Likely benign	0	1	58	10
MUT:BUB1B:Thr471Lys	PROT:O60566	BUB1B	T	471	K	T471K	Likely benign	0	1	58	4
MUT:BUB1B:Thr493Ala	PROT:O60566	BUB1B	T	493	A	T493A	Likely benign	0	1	58	5
MUT:BUB1B:Thr859Ala	PROT:O60566	BUB1B	T	859	A	T859A	Likely benign	0	1	58	25
MUT:BUB1B:Val106Ile	PROT:O60566	BUB1B	V	106	I	V106I	Likely benign	0	1	58	7
MUT:BUB1B:Val149Ile	PROT:O60566	BUB1B	V	149	I	V149I	Likely benign	0	1	58	21
MUT:BUB1B:Val4Met	PROT:O60566	BUB1B	V	4	M	V4M	Likely benign	0	2	58	8
MUT:BUB1B:Val526Ile	PROT:O60566	BUB1B	V	526	I	V526I	Likely benign	0	1	58	4
MUT:BUB1B:Val618Ala	PROT:O60566	BUB1B	V	618	A	V618A	Benign	0	3	58	2
MUT:C16orf96:Gly1000Arg	PROT:A6NNT2	C16orf96	G	1000	R	G1000R	Likely benign	0	3	1	181
MUT:C1GALT1C1:Ala143Val	PROT:Q96EU7	C1GALT1C1	A	143	V	A143V	Benign	0	1	9	16
MUT:C1GALT1C1:Ala20Asp	PROT:Q96EU7	C1GALT1C1	A	20	D	A20D	Likely pathogenic	1	2	9	34
MUT:C1GALT1C1:Asp131Glu	PROT:Q96EU7	C1GALT1C1	D	131	E	D131E	Benign/Likely benign	0	3	9	4
MUT:C1GALT1C1:Gln222His	PROT:Q96EU7	C1GALT1C1	Q	222	H	Q222H	Likely benign	0	2	9	1
MUT:C1GALT1C1:Glu152Lys	PROT:Q96EU7	C1GALT1C1	E	152	K	E152K	Pathogenic	1	1	9	9
MUT:C1GALT1C1:Gly185Arg	PROT:Q96EU7	C1GALT1C1	G	185	R	G185R	Likely pathogenic	1	1	9	24
MUT:C1GALT1C1:Met1Ile	PROT:Q96EU7	C1GALT1C1	M	1	I	M1I	Pathogenic	1	1	9	53
MUT:C1GALT1C1:Met24Val	PROT:Q96EU7	C1GALT1C1	M	24	V	M24V	Benign	0	1	9	30
MUT:C1GALT1C1:Ser101Asn	PROT:Q96EU7	C1GALT1C1	S	101	N	S101N	Benign	0	2	9	5
MUT:C1GALT1C1:Ser193Pro	PROT:Q96EU7	C1GALT1C1	S	193	P	S193P	Pathogenic	1	1	9	23
MUT:C1GALT1C1:Thr147Met	PROT:Q96EU7	C1GALT1C1	T	147	M	T147M	Likely benign	0	1	9	14
MUT:C1GALT1C1:Thr89Ile	PROT:Q96EU7	C1GALT1C1	T	89	I	T89I	Pathogenic	1	2	9	3
MUT:C1QB:Gly242Arg	PROT:P02746	C1QB	G	242	R	G242R	Likely pathogenic	1	1	2	115
MUT:C1QB:Gly88Ser	PROT:P02746	C1QB	G	88	S	G88S	Likely pathogenic	1	1	2	37
MUT:C1QB:Val180Met	PROT:P02746	C1QB	V	180	M	V180M	Benign/Likely benign	0	1	2	53
MUT:C1QBP:Ala81Thr	PROT:Q07021	C1QBP	A	81	T	A81T	Likely benign	0	1	14	6
MUT:C1QBP:Arg6Leu	PROT:Q07021	C1QBP	R	6	L	R6L	Likely benign	0	1	14	81
MUT:C1QBP:Asp176His	PROT:Q07021	C1QBP	D	176	H	D176H	Likely benign	0	1	14	2
MUT:C1QBP:Gly247Trp	PROT:Q07021	C1QBP	G	247	W	G247W	Pathogenic	1	1	14	30
MUT:C1QBP:Leu275Phe	PROT:Q07021	C1QBP	L	275	F	L275F	Pathogenic	1	1	14	58
MUT:C1QBP:Leu275Pro	PROT:Q07021	C1QBP	L	275	P	L275P	Pathogenic	1	1	14	58
MUT:C1QBP:Phe204Leu	PROT:Q07021	C1QBP	F	204	L	F204L	Pathogenic/Likely pathogenic	1	2	14	1
MUT:C1QBP:Thr130Met	PROT:Q07021	C1QBP	T	130	M	T130M	Benign	0	1	14	33
MUT:C2:Ala472Thr	PROT:P06681	C2	A	472	T	A472T	Likely benign	0	1	1	111
MUT:C2:Arg32Gln	PROT:P06681	C2	R	32	Q	R32Q	Benign/Likely benign	0	6	1	329
MUT:C2:Arg510His	PROT:P06681	C2	R	510	H	R510H	Likely benign	0	1	1	149
MUT:C2:Glu318Asp	PROT:P06681	C2	E	318	D	E318D	Benign/Likely benign	0	2	1	43
MUT:C2:Ser209Phe	PROT:P06681	C2	S	209	F	S209F	Pathogenic	1	1	1	152
MUT:C2:Ser612Asn	PROT:P06681	C2	S	612	N	S612N	Likely benign	0	1	1	251
MUT:C2:Val641Ala	PROT:P06681	C2	V	641	A	V641A	Benign/Likely benign	0	1	1	280
MUT:C4BPA:Arg485Gln	PROT:P04003	C4BPA	R	485	Q	R485Q	Benign	0	2	1	298
MUT:C4BPB:Val174Met	PROT:P20851	C4BPB	V	174	M	V174M	Likely benign	0	1	8	25
MUT:C5:Arg885His	PROT:P01031	C5	R	885	H	R885H	Likely benign	0	1	5	136
MUT:C5:His110Asn	PROT:P01031	C5	H	110	N	H110N	Likely benign	0	1	5	172
MUT:C5:His473Arg	PROT:P01031	C5	H	473	R	H473R	Likely benign	0	5	5	191
MUT:C5:Lys1119Arg	PROT:P01031	C5	K	1119	R	K1119R	Likely benign	0	1	5	192
MUT:C5:Lys372Arg	PROT:P01031	C5	K	372	R	K372R	Pathogenic	1	1	5	90
MUT:C7:Lys420Gln	PROT:P10643	C7	K	420	Q	K420Q	Benign/Likely benign	0	1	1	89
MUT:C7:Ser534Thr	PROT:P10643	C7	S	534	T	S534T	Likely benign	0	1	1	203
MUT:C7:Thr45Ile	PROT:P10643	C7	T	45	I	T45I	Likely benign	0	1	1	286
MUT:C9:Arg59Lys	PROT:P02748	C9	R	59	K	R59K	Likely benign	0	1	6	7
MUT:C9:Cys528Tyr	PROT:P02748	C9	C	528	Y	C528Y	Pathogenic	1	1	6	93
MUT:C9:His384Asp	PROT:P02748	C9	H	384	D	H384D	Likely benign	0	1	6	8
MUT:C9:Leu428Phe	PROT:P02748	C9	L	428	F	L428F	Likely benign	0	1	6	7
MUT:C9:Met45Leu	PROT:P02748	C9	M	45	L	M45L	Likely benign	0	2	6	21
MUT:C9:Phe306Ser	PROT:P02748	C9	F	306	S	F306S	Likely benign	0	1	6	10
MUT:C9:Phe338Leu	PROT:P02748	C9	F	338	L	F338L	Likely benign	0	1	6	22
MUT:C9:Thr279Ser	PROT:P02748	C9	T	279	S	T279S	Benign/Likely benign	0	1	6	37
MUT:C9orf72:Asn207Ser	PROT:Q96LT7	C9orf72	N	207	S	N207S	Benign	0	1	1	198
MUT:C9orf72:Lys156Asn	PROT:Q96LT7	C9orf72	K	156	N	K156N	Likely benign	0	1	1	147
MUT:C9orf72:Val235Ile	PROT:Q96LT7	C9orf72	V	235	I	V235I	Likely benign	0	1	1	226
MUT:CA2:Asn252Asp	PROT:P00918	CA2	N	252	D	N252D	Benign/Likely benign	0	2	18	28
MUT:CA2:Gln92Pro	PROT:P00918	CA2	Q	92	P	Q92P	Likely pathogenic	1	1	18	5
MUT:CA2:His107Tyr	PROT:P00918	CA2	H	107	Y	H107Y	Pathogenic	1	1	18	7
MUT:CA2:Leu203Met	PROT:P00918	CA2	L	203	M	L203M	Likely benign	0	1	18	13
MUT:CA2:Lys18Glu	PROT:P00918	CA2	K	18	E	K18E	Pathogenic	1	1	18	0
MUT:CA2:Met1Arg	PROT:P00918	CA2	M	1	R	M1R	Likely pathogenic	1	1	18	17
MUT:CA2:Pro236His	PROT:P00918	CA2	P	236	H	P236H	Pathogenic	1	1	18	12
MUT:CABIN1:Arg1243His	PROT:Q9Y6J0	CABIN1	R	1243	H	R1243H	Benign	0	1	29	55
MUT:CABIN1:Arg660Ser	PROT:Q9Y6J0	CABIN1	R	660	S	R660S	Benign	0	1	29	13
MUT:CABIN1:Arg853Gln	PROT:Q9Y6J0	CABIN1	R	853	Q	R853Q	Benign	0	7	29	100
MUT:CABIN1:Asn1055Lys	PROT:Q9Y6J0	CABIN1	N	1055	K	N1055K	Benign	0	1	29	41
MUT:CABIN1:Asp2212Glu	PROT:Q9Y6J0	CABIN1	D	2212	E	D2212E	Likely benign	0	1	29	61
MUT:CABIN1:Asp225Asn	PROT:Q9Y6J0	CABIN1	D	225	N	D225N	Benign	0	1	29	151
MUT:CABIN1:Gln1990Glu	PROT:Q9Y6J0	CABIN1	Q	1990	E	Q1990E	Benign	0	1	29	63
MUT:CABIN1:Gln921Glu	PROT:Q9Y6J0	CABIN1	Q	921	E	Q921E	Benign	0	1	29	93
MUT:CABIN1:Gly496Ser	PROT:Q9Y6J0	CABIN1	G	496	S	G496S	Likely benign	0	1	29	46
MUT:CABIN1:Leu816Phe	PROT:Q9Y6J0	CABIN1	L	816	F	L816F	Likely benign	0	1	29	63
MUT:CABIN1:Lys1410Asn	PROT:Q9Y6J0	CABIN1	K	1410	N	K1410N	Likely benign	0	1	29	222
MUT:CABIN1:Met415Val	PROT:Q9Y6J0	CABIN1	M	415	V	M415V	Likely benign	0	1	29	18
MUT:CABIN1:Pro1996Leu	PROT:Q9Y6J0	CABIN1	P	1996	L	P1996L	Benign	0	1	29	69
MUT:CABIN1:Pro840Ala	PROT:Q9Y6J0	CABIN1	P	840	A	P840A	Likely benign	0	1	29	87
MUT:CABIN1:Pro874Ser	PROT:Q9Y6J0	CABIN1	P	874	S	P874S	Benign	0	1	29	121
MUT:CABIN1:Ser1416Asn	PROT:Q9Y6J0	CABIN1	S	1416	N	S1416N	Benign	0	1	29	228
MUT:CABIN1:Val2185Met	PROT:Q9Y6J0	CABIN1	V	2185	M	V2185M	Likely benign	0	1	29	34
MUT:CACHD1:Ala909Val	PROT:Q5VU97	CACHD1	A	909	V	A909V	Likely benign	0	1	5	165
MUT:CACNA1B:Asn167Lys	PROT:Q00975	CACNA1B	N	167	K	N167K	Benign	0	1	15	207
MUT:CACNA1B:Gln2246His	PROT:Q00975	CACNA1B	Q	2246	H	Q2246H	Benign/Likely benign	0	1	15	10
MUT:CACNA1B:Gly17Ser	PROT:Q00975	CACNA1B	G	17	S	G17S	Benign	0	1	15	357
MUT:CACNA1B:Ile1225Val	PROT:Q00975	CACNA1B	I	1225	V	I1225V	Benign	0	1	15	156
MUT:CACNA1B:Pro2149Ala	PROT:Q00975	CACNA1B	P	2149	A	P2149A	Likely benign	0	1	15	20
MUT:CACNA1B:Pro861Ser	PROT:Q00975	CACNA1B	P	861	S	P861S	Benign/Likely benign	0	1	15	208
MUT:CACNA1B:Val2297Met	PROT:Q00975	CACNA1B	V	2297	M	V2297M	Likely benign	0	1	15	31
MUT:CACNA1D:Ala1285Val	PROT:Q01668	CACNA1D	A	1285	V	A1285V	Benign/Likely benign	0	1	4	436
MUT:CACNA1D:Ala502Thr	PROT:Q01668	CACNA1D	A	502	T	A502T	Likely benign	0	1	4	135
MUT:CACNA1D:Arg2146Lys	PROT:Q01668	CACNA1D	R	2146	K	R2146K	Benign/Likely benign	0	2	4	241
MUT:CACNA1D:Cys1899Arg	PROT:Q01668	CACNA1D	C	1899	R	C1899R	Likely benign	0	1	4	6
MUT:CACNA1D:Gly403Asp	PROT:Q01668	CACNA1D	G	403	D	G403D	Pathogenic	1	1	4	234
MUT:CACNA1D:Ile1121Val	PROT:Q01668	CACNA1D	I	1121	V	I1121V	Benign/Likely benign	0	2	4	272
MUT:CACNA1D:Ile750Met	PROT:Q01668	CACNA1D	I	750	M	I750M	Pathogenic/Likely pathogenic	1	1	4	99
MUT:CACNA1D:Ile750Phe	PROT:Q01668	CACNA1D	I	750	F	I750F	Likely pathogenic	1	1	4	99
MUT:CACNA1D:Leu851Trp	PROT:Q01668	CACNA1D	L	851	W	L851W	Benign/Likely benign	0	2	4	2
MUT:CACNA1D:Phe747Leu	PROT:Q01668	CACNA1D	F	747	L	F747L	Pathogenic	1	2	4	102
MUT:CACNA1D:Phe926Ser	PROT:Q01668	CACNA1D	F	926	S	F926S	Likely benign	0	1	4	77
MUT:CACNA1D:Pro1298Ser	PROT:Q01668	CACNA1D	P	1298	S	P1298S	Benign/Likely benign	0	2	4	449
MUT:CACNA1D:Ser911Asn	PROT:Q01668	CACNA1D	S	911	N	S911N	Likely benign	0	1	4	62
MUT:CACNA1D:Thr1342Ala	PROT:Q01668	CACNA1D	T	1342	A	T1342A	Likely benign	0	1	4	493
MUT:CACNA1D:Thr1752Ile	PROT:Q01668	CACNA1D	T	1752	I	T1752I	Benign	0	2	4	153
MUT:CACNA1D:Val309Ile	PROT:Q01668	CACNA1D	V	309	I	V309I	Benign/Likely benign	0	1	4	264
MUT:CACNA1D:Val338Gly	PROT:Q01668	CACNA1D	V	338	G	V338G	Likely benign	0	1	4	293
MUT:CACNA1D:Val728Ile	PROT:Q01668	CACNA1D	V	728	I	V728I	Likely benign	0	1	4	91
MUT:CACNA1I:Ala763Thr	PROT:Q9P0X4	CACNA1I	A	763	T	A763T	Likely benign	0	1	1	26
MUT:CACNA1I:Arg504Trp	PROT:Q9P0X4	CACNA1I	R	504	W	R504W	Likely benign	0	1	1	285
MUT:CACNA1I:Asp2040Tyr	PROT:Q9P0X4	CACNA1I	D	2040	Y	D2040Y	Likely benign	0	1	1	1251
MUT:CACNA1I:Asp302Gly	PROT:Q9P0X4	CACNA1I	D	302	G	D302G	Likely benign	0	1	1	487
MUT:CACNA1I:Asp800Asn	PROT:Q9P0X4	CACNA1I	D	800	N	D800N	Likely benign	0	1	1	11
MUT:CACNA1I:Gly1782Arg	PROT:Q9P0X4	CACNA1I	G	1782	R	G1782R	Benign	0	1	1	993
MUT:CACNA1I:His505Asn	PROT:Q9P0X4	CACNA1I	H	505	N	H505N	Benign	0	1	1	284
MUT:CACNA1I:Ile1040Val	PROT:Q9P0X4	CACNA1I	I	1040	V	I1040V	Benign	0	1	1	251
MUT:CACNA1I:Ile860Asn	PROT:Q9P0X4	CACNA1I	I	860	N	I860N	Pathogenic	1	1	1	71
MUT:CACNA1I:Ile860Met	PROT:Q9P0X4	CACNA1I	I	860	M	I860M	Pathogenic	1	1	1	71
MUT:CACNA1I:Met1425Ile	PROT:Q9P0X4	CACNA1I	M	1425	I	M1425I	Pathogenic	1	1	1	636
MUT:CACNA1I:Met687Val	PROT:Q9P0X4	CACNA1I	M	687	V	M687V	Likely pathogenic	1	1	1	102
MUT:CACNA1I:Pro1026Leu	PROT:Q9P0X4	CACNA1I	P	1026	L	P1026L	Benign	0	1	1	237
MUT:CACNA1I:Pro7Leu	PROT:Q9P0X4	CACNA1I	P	7	L	P7L	Benign	0	1	1	782
MUT:CACNA1I:Tyr1235Ser	PROT:Q9P0X4	CACNA1I	Y	1235	S	Y1235S	Likely pathogenic	1	1	1	446
MUT:CACNB2:Arg547His	PROT:Q08289	CACNB2	R	547	H	R547H	Likely benign	0	1	8	3
MUT:CACNB2:Arg606Gly	PROT:Q08289	CACNB2	R	606	G	R606G	Benign	0	1	8	52
MUT:CACNB2:Arg659Cys	PROT:Q08289	CACNB2	R	659	C	R659C	Likely benign	0	2	8	105
MUT:CACNB2:Arg70His	PROT:Q08289	CACNB2	R	70	H	R70H	Likely benign	0	1	8	12
MUT:CACNB2:Asp655Glu	PROT:Q08289	CACNB2	D	655	E	D655E	Benign	0	1	8	101
MUT:CACNB2:Glu518Ala	PROT:Q08289	CACNB2	E	518	A	E518A	Likely benign	0	2	8	4
MUT:CACNB2:Lys645Asn	PROT:Q08289	CACNB2	K	645	N	K645N	Likely benign	0	1	8	91
MUT:CACNB2:Ser557Leu	PROT:Q08289	CACNB2	S	557	L	S557L	Benign/Likely benign	0	2	8	3
MUT:CACNB2:Thr11Ile	PROT:Q08289	CACNB2	T	11	I	T11I	Pathogenic	1	1	8	47
MUT:CACNB2:Val212Leu	PROT:Q08289	CACNB2	V	212	L	V212L	Benign/Likely benign	0	1	8	7
MUT:CACNB4:Ala81Thr	PROT:O00305	CACNB4	A	81	T	A81T	Likely pathogenic	1	1	7	18
MUT:CACNB4:Lys205Asn	PROT:O00305	CACNB4	K	205	N	K205N	Likely pathogenic	1	1	7	2
MUT:CACNB4:Met219Val	PROT:O00305	CACNB4	M	219	V	M219V	Benign	0	2	7	12
MUT:CACNB4:Ser153Asn	PROT:O00305	CACNB4	S	153	N	S153N	Likely benign	0	1	7	50
MUT:CACNG7:Ile262Val	PROT:P62955	CACNG7	I	262	V	I262V	Likely pathogenic	1	1	7	2
MUT:CADPS2:Asp1088Asn	PROT:Q86UW7	CADPS2	D	1088	N	D1088N	Likely benign	0	1	4	202
MUT:CADPS2:Lys292Arg	PROT:Q86UW7	CADPS2	K	292	R	K292R	Likely benign	0	1	4	105
MUT:CADPS2:Val799Leu	PROT:Q86UW7	CADPS2	V	799	L	V799L	Likely benign	0	1	4	491
MUT:CAMK2A:Ala483Val	PROT:Q9UQM7	CAMK2A	A	483	V	A483V	Likely benign	0	1	24	13
MUT:CAMK2A:Arg259Cys	PROT:Q9UQM7	CAMK2A	R	259	C	R259C	Pathogenic/Likely pathogenic	1	1	24	20
MUT:CAMK2A:Arg357Trp	PROT:Q9UQM7	CAMK2A	R	357	W	R357W	Likely benign	0	1	24	20
MUT:CAMK2A:Arg464Cys	PROT:Q9UQM7	CAMK2A	R	464	C	R464C	Likely benign	0	1	24	3
MUT:CAMK2A:Arg468Cys	PROT:Q9UQM7	CAMK2A	R	468	C	R468C	Likely benign	0	1	24	2
MUT:CAMK2A:Asn412Thr	PROT:Q9UQM7	CAMK2A	N	412	T	N412T	Likely benign	0	1	24	49
MUT:CAMK2A:Glu109Asp	PROT:Q9UQM7	CAMK2A	E	109	D	E109D	Pathogenic	1	2	24	3
MUT:CAMK2A:Glu109Lys	PROT:Q9UQM7	CAMK2A	E	109	K	E109K	Likely pathogenic	1	1	24	3
MUT:CAMK2A:Glu139Gln	PROT:Q9UQM7	CAMK2A	E	139	Q	E139Q	Likely pathogenic	1	1	24	2
MUT:CAMK2A:Glu17Lys	PROT:Q9UQM7	CAMK2A	E	17	K	E17K	Likely pathogenic	1	2	24	4
MUT:CAMK2A:Glu183Val	PROT:Q9UQM7	CAMK2A	E	183	V	E183V	Pathogenic	1	2	24	2
MUT:CAMK2A:Gly175Ala	PROT:Q9UQM7	CAMK2A	G	175	A	G175A	Likely pathogenic	1	1	24	6
MUT:CAMK2A:Gly20Asp	PROT:Q9UQM7	CAMK2A	G	20	D	G20D	Likely pathogenic	1	1	24	7
MUT:CAMK2A:His282Arg	PROT:Q9UQM7	CAMK2A	H	282	R	H282R	Pathogenic	1	2	24	3
MUT:CAMK2A:His477Tyr	PROT:Q9UQM7	CAMK2A	H	477	Y	H477Y	Pathogenic	1	1	24	7
MUT:CAMK2A:Leu252Pro	PROT:Q9UQM7	CAMK2A	L	252	P	L252P	Likely pathogenic	1	1	24	13
MUT:CAMK2A:Leu97Pro	PROT:Q9UQM7	CAMK2A	L	97	P	L97P	Likely pathogenic	1	1	24	9
MUT:CAMK2A:Phe98Ser	PROT:Q9UQM7	CAMK2A	F	98	S	F98S	Pathogenic	1	2	24	8
MUT:CAMK2A:Pro212Gln	PROT:Q9UQM7	CAMK2A	P	212	Q	P212Q	Pathogenic	1	1	24	18
MUT:CAMK2A:Pro212Leu	PROT:Q9UQM7	CAMK2A	P	212	L	P212L	Pathogenic	1	2	24	18
MUT:CAMK2A:Pro455Thr	PROT:Q9UQM7	CAMK2A	P	455	T	P455T	Likely benign	0	1	24	6
MUT:CAMK2A:Thr286Pro	PROT:Q9UQM7	CAMK2A	T	286	P	T286P	Pathogenic	1	2	24	0
MUT:CAMK2B:Ala199Val	PROT:Q13554	CAMK2B	A	199	V	A199V	Likely pathogenic	1	1	32	36
MUT:CAMK2B:Ala472Val	PROT:Q13554	CAMK2B	A	472	V	A472V	Likely benign	0	2	32	1
MUT:CAMK2B:Ala660Thr	PROT:Q13554	CAMK2B	A	660	T	A660T	Likely benign	0	2	32	138
MUT:CAMK2B:Arg284Ser	PROT:Q13554	CAMK2B	R	284	S	R284S	Pathogenic	1	1	32	3
MUT:CAMK2B:Arg312Trp	PROT:Q13554	CAMK2B	R	312	W	R312W	Likely benign	0	1	32	1
MUT:CAMK2B:Arg631Trp	PROT:Q13554	CAMK2B	R	631	W	R631W	Likely benign	0	1	32	109
MUT:CAMK2B:Glu110Lys	PROT:Q13554	CAMK2B	E	110	K	E110K	Pathogenic	1	2	32	3
MUT:CAMK2B:Glu237Lys	PROT:Q13554	CAMK2B	E	237	K	E237K	Pathogenic	1	2	32	2
MUT:CAMK2B:Lys301Glu	PROT:Q13554	CAMK2B	K	301	E	K301E	Pathogenic/Likely pathogenic	1	2	32	0
MUT:CAMK2B:Pro139Leu	PROT:Q13554	CAMK2B	P	139	L	P139L	Pathogenic/Likely pathogenic	1	3	32	1
MUT:CAMK2B:Pro213Leu	PROT:Q13554	CAMK2B	P	213	L	P213L	Pathogenic	1	1	32	22
MUT:CAMK2B:Pro518Leu	PROT:Q13554	CAMK2B	P	518	L	P518L	Benign/Likely benign	0	2	32	4
MUT:CAMK2B:Thr254Ser	PROT:Q13554	CAMK2B	T	254	S	T254S	Likely benign	0	1	32	0
MUT:CAMK2B:Val515Leu	PROT:Q13554	CAMK2B	V	515	L	V515L	Benign/Likely benign	0	2	32	7
MUT:CAMK2G:Arg292Pro	PROT:Q13555	CAMK2G	R	292	P	R292P	Pathogenic/Likely pathogenic	1	2	17	5
MUT:CAMK2G:Asp412Glu	PROT:Q13555	CAMK2G	D	412	E	D412E	Likely pathogenic	1	1	17	14
MUT:CAMK2G:Ile226Val	PROT:Q13555	CAMK2G	I	226	V	I226V	Likely pathogenic	1	1	17	1
MUT:CAMSAP1:Ala469Val	PROT:Q5T5Y3	CAMSAP1	A	469	V	A469V	Likely benign	0	1	32	1
MUT:CAMSAP1:Arg931Lys	PROT:Q5T5Y3	CAMSAP1	R	931	K	R931K	Likely benign	0	1	32	34
MUT:CAMSAP1:Glu1155Asp	PROT:Q5T5Y3	CAMSAP1	E	1155	D	E1155D	Likely benign	0	1	32	8
MUT:CAMSAP1:Ile432Val	PROT:Q5T5Y3	CAMSAP1	I	432	V	I432V	Likely benign	0	1	32	16
MUT:CAMSAP1:Ile459Val	PROT:Q5T5Y3	CAMSAP1	I	459	V	I459V	Likely benign	0	1	32	11
MUT:CAMSAP1:Ile508Val	PROT:Q5T5Y3	CAMSAP1	I	508	V	I508V	Likely benign	0	1	32	4
MUT:CAMSAP1:Leu567Ser	PROT:Q5T5Y3	CAMSAP1	L	567	S	L567S	Likely benign	0	1	32	4
MUT:CAMSAP1:Leu733Val	PROT:Q5T5Y3	CAMSAP1	L	733	V	L733V	Likely benign	0	1	32	39
MUT:CAMSAP1:Lys1366Arg	PROT:Q5T5Y3	CAMSAP1	K	1366	R	K1366R	Likely benign	0	1	32	6
MUT:CAMSAP1:Met807Val	PROT:Q5T5Y3	CAMSAP1	M	807	V	M807V	Likely benign	0	1	32	14
MUT:CAMSAP1:Pro557Leu	PROT:Q5T5Y3	CAMSAP1	P	557	L	P557L	Likely benign	0	1	32	6
MUT:CAMSAP1:Pro628Ser	PROT:Q5T5Y3	CAMSAP1	P	628	S	P628S	Likely benign	0	1	32	1
MUT:CAMSAP1:Pro928Leu	PROT:Q5T5Y3	CAMSAP1	P	928	L	P928L	Likely benign	0	1	32	31
MUT:CAMSAP1:Ser583Pro	PROT:Q5T5Y3	CAMSAP1	S	583	P	S583P	Likely benign	0	1	32	6
MUT:CAMSAP1:Thr466Asn	PROT:Q5T5Y3	CAMSAP1	T	466	N	T466N	Likely benign	0	1	32	4
MUT:CAMSAP1:Thr473Ala	PROT:Q5T5Y3	CAMSAP1	T	473	A	T473A	Likely benign	0	1	32	3
MUT:CAMSAP1:Thr570Ile	PROT:Q5T5Y3	CAMSAP1	T	570	I	T570I	Likely benign	0	1	32	5
MUT:CAMSAP1:Val1221Ile	PROT:Q5T5Y3	CAMSAP1	V	1221	I	V1221I	Likely benign	0	1	32	8
MUT:CAMSAP2:Pro1028Arg	PROT:Q08AD1	CAMSAP2	P	1028	R	P1028R	Benign	0	5	54	1
MUT:CAPN1:Arg24Lys	PROT:P07384	CAPN1	R	24	K	R24K	Likely benign	0	1	23	12
MUT:CAPN1:Arg295Pro	PROT:P07384	CAPN1	R	295	P	R295P	Pathogenic	1	1	23	5
MUT:CAPN1:Glu447Asp	PROT:P07384	CAPN1	E	447	D	E447D	Pathogenic	1	1	23	1
MUT:CAPN1:Gly208Asp	PROT:P07384	CAPN1	G	208	D	G208D	Pathogenic	1	1	23	15
MUT:CAPN1:Val47Ala	PROT:P07384	CAPN1	V	47	A	V47A	Likely benign	0	1	23	5
MUT:CAPN1:Val676Ile	PROT:P07384	CAPN1	V	676	I	V676I	Benign	0	1	23	40
MUT:CAPS:Arg18His	PROT:Q13938	CAPS	R	18	H	R18H	Benign	0	1	1	89
MUT:CAPS:Gly54Arg	PROT:Q13938	CAPS	G	54	R	G54R	Benign	0	1	1	53
MUT:CAPZA2:Lys256Glu	PROT:P47755	CAPZA2	K	256	E	K256E	Pathogenic	1	1	20	0
MUT:CARD10:Ala382Thr	PROT:Q9BWT7	CARD10	A	382	T	A382T	Benign	0	1	12	34
MUT:CARD10:Arg289Gln	PROT:Q9BWT7	CARD10	R	289	Q	R289Q	Benign	0	1	12	19
MUT:CARD10:Arg420Cys	PROT:Q9BWT7	CARD10	R	420	C	R420C	Likely pathogenic	1	1	12	1
MUT:CARD10:Cys1026Tyr	PROT:Q9BWT7	CARD10	C	1026	Y	C1026Y	Benign	0	1	12	192
MUT:CARD10:Glu705Lys	PROT:Q9BWT7	CARD10	E	705	K	E705K	Benign	0	1	12	35
MUT:CARD10:Lys514Arg	PROT:Q9BWT7	CARD10	K	514	R	K514R	Benign	0	1	12	13
MUT:CARD11:Ala40Asp	PROT:Q9BXL7	CARD11	A	40	D	A40D	Likely pathogenic	1	1	34	29
MUT:CARD11:Ala790Thr	PROT:Q9BXL7	CARD11	A	790	T	A790T	Likely benign	0	1	34	64
MUT:CARD11:Arg1027Gln	PROT:Q9BXL7	CARD11	R	1027	Q	R1027Q	Likely benign	0	1	34	2
MUT:CARD11:Arg30Gly	PROT:Q9BXL7	CARD11	R	30	G	R30G	Likely pathogenic	1	1	34	39
MUT:CARD11:Arg30Trp	PROT:Q9BXL7	CARD11	R	30	W	R30W	Pathogenic/Likely pathogenic	1	1	34	39
MUT:CARD11:Arg72Leu	PROT:Q9BXL7	CARD11	R	72	L	R72L	Likely pathogenic	1	1	34	3
MUT:CARD11:Arg818Gln	PROT:Q9BXL7	CARD11	R	818	Q	R818Q	Likely benign	0	1	34	36
MUT:CARD11:Cys49Tyr	PROT:Q9BXL7	CARD11	C	49	Y	C49Y	Pathogenic	1	1	34	20
MUT:CARD11:Glu134Gly	PROT:Q9BXL7	CARD11	E	134	G	E134G	Pathogenic	1	1	34	18
MUT:CARD11:Gly123Asp	PROT:Q9BXL7	CARD11	G	123	D	G123D	Pathogenic	1	1	34	7
MUT:CARD11:Gly123Ser	PROT:Q9BXL7	CARD11	G	123	S	G123S	Pathogenic	1	2	34	7
MUT:CARD11:Gly126Asp	PROT:Q9BXL7	CARD11	G	126	D	G126D	Likely pathogenic	1	1	34	10
MUT:CARD11:Gly860Ser	PROT:Q9BXL7	CARD11	G	860	S	G860S	Likely benign	0	1	34	1
MUT:CARD11:His527Gln	PROT:Q9BXL7	CARD11	H	527	Q	H527Q	Likely benign	0	1	34	5
MUT:CARD11:Met421Thr	PROT:Q9BXL7	CARD11	M	421	T	M421T	Likely benign	0	1	34	12
MUT:CARD11:Ser537Thr	PROT:Q9BXL7	CARD11	S	537	T	S537T	Benign/Likely benign	0	1	34	2
MUT:CARD11:Ser694Leu	PROT:Q9BXL7	CARD11	S	694	L	S694L	Likely benign	0	1	34	2
MUT:CARD11:Ser775Leu	PROT:Q9BXL7	CARD11	S	775	L	S775L	Likely pathogenic	1	1	34	72
MUT:CARD11:Thr43Arg	PROT:Q9BXL7	CARD11	T	43	R	T43R	Likely pathogenic	1	1	34	26
MUT:CARD11:Thr748Ala	PROT:Q9BXL7	CARD11	T	748	A	T748A	Benign	0	1	34	45
MUT:CARD11:Val1009Ile	PROT:Q9BXL7	CARD11	V	1009	I	V1009I	Likely benign	0	1	34	10
MUT:CARD6:Ile194Val	PROT:Q9BX69	CARD6	I	194	V	I194V	Benign	0	7	19	40
MUT:CARD8:Glu388Asp	PROT:Q9Y2G2	CARD8	E	388	D	E388D	Likely benign	0	1	1	347
MUT:CARD8:Phe211Cys	PROT:Q9Y2G2	CARD8	F	211	C	F211C	Likely benign	0	1	1	170
MUT:CARD8:Pro18Leu	PROT:Q9Y2G2	CARD8	P	18	L	P18L	Likely benign	0	1	1	23
MUT:CARD8:Pro386Leu	PROT:Q9Y2G2	CARD8	P	386	L	P386L	Likely benign	0	1	1	345
MUT:CARD8:Ser339Gly	PROT:Q9Y2G2	CARD8	S	339	G	S339G	Likely benign	0	1	1	298
MUT:CARD8:Thr208Met	PROT:Q9Y2G2	CARD8	T	208	M	T208M	Likely benign	0	1	1	167
MUT:CARD8:Val182Phe	PROT:Q9Y2G2	CARD8	V	182	F	V182F	Likely benign	0	1	1	141
MUT:CARMIL2:Arg505Leu	PROT:Q6F5E8	CARMIL2	R	505	L	R505L	Likely benign	0	1	14	90
MUT:CARMIL2:Arg50Thr	PROT:Q6F5E8	CARMIL2	R	50	T	R50T	Likely pathogenic	1	1	14	76
MUT:CARMIL2:Arg805His	PROT:Q6F5E8	CARMIL2	R	805	H	R805H	Likely benign	0	1	14	117
MUT:CARMIL2:Arg866Gln	PROT:Q6F5E8	CARMIL2	R	866	Q	R866Q	Benign/Likely benign	0	1	14	178
MUT:CARMIL2:Asn530Lys	PROT:Q6F5E8	CARMIL2	N	530	K	N530K	Pathogenic/Likely pathogenic	1	1	14	65
MUT:CARMIL2:Gly845Asp	PROT:Q6F5E8	CARMIL2	G	845	D	G845D	Benign	0	1	14	157
MUT:CARMIL2:Ile616Val	PROT:Q6F5E8	CARMIL2	I	616	V	I616V	Benign	0	1	14	11
MUT:CARMIL2:Leu372Arg	PROT:Q6F5E8	CARMIL2	L	372	R	L372R	Likely pathogenic	1	1	14	55
MUT:CARMIL2:Leu525Gln	PROT:Q6F5E8	CARMIL2	L	525	Q	L525Q	Pathogenic	1	1	14	70
MUT:CARMIL2:Thr818Ile	PROT:Q6F5E8	CARMIL2	T	818	I	T818I	Likely benign	0	1	14	130
MUT:CARMIL2:Val181Met	PROT:Q6F5E8	CARMIL2	V	181	M	V181M	Benign	0	1	14	49
MUT:CASP14:Arg44Trp	PROT:P31944	CASP14	R	44	W	R44W	Benign	0	1	3	38
MUT:CASP9:Ala28Val	PROT:P55211	CASP9	A	28	V	A28V	Benign	0	1	17	69
MUT:CASP9:Arg173His	PROT:P55211	CASP9	R	173	H	R173H	Benign	0	1	17	16
MUT:CASP9:Gln221Arg	PROT:P55211	CASP9	Q	221	R	Q221R	Benign	0	1	17	10
MUT:CASP9:Gln44Glu	PROT:P55211	CASP9	Q	44	E	Q44E	Benign	0	1	17	53
MUT:CASP9:Met157Val	PROT:P55211	CASP9	M	157	V	M157V	Likely benign	0	1	17	4
MUT:CASP9:Thr102Ile	PROT:P55211	CASP9	T	102	I	T102I	Benign	0	1	17	2
MUT:CASP9:Thr366Asn	PROT:P55211	CASP9	T	366	N	T366N	Benign	0	1	17	59
MUT:CASQ2:Arg33Gln	PROT:O14958	CASQ2	R	33	Q	R33Q	Pathogenic/Likely pathogenic	1	3	9	3
MUT:CASQ2:Asp307His	PROT:O14958	CASQ2	D	307	H	D307H	Pathogenic	1	1	9	5
MUT:CASQ2:His244Arg	PROT:O14958	CASQ2	H	244	R	H244R	Benign/Likely benign	0	4	9	38
MUT:CASQ2:Leu167His	PROT:O14958	CASQ2	L	167	H	L167H	Pathogenic	1	1	9	5
MUT:CASQ2:Met1Ile	PROT:O14958	CASQ2	M	1	I	M1I	Pathogenic	1	1	9	35
MUT:CASQ2:Met1Lys	PROT:O14958	CASQ2	M	1	K	M1K	Likely pathogenic	1	1	9	35
MUT:CASQ2:Met1Thr	PROT:O14958	CASQ2	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	9	35
MUT:CASQ2:Pro308Leu	PROT:O14958	CASQ2	P	308	L	P308L	Pathogenic/Likely pathogenic	1	2	9	6
MUT:CASQ2:Thr66Ala	PROT:O14958	CASQ2	T	66	A	T66A	Benign	0	3	9	30
MUT:CASQ2:Tyr55Cys	PROT:O14958	CASQ2	Y	55	C	Y55C	Pathogenic/Likely pathogenic	1	2	9	19
MUT:CASQ2:Val76Met	PROT:O14958	CASQ2	V	76	M	V76M	Benign/Likely benign	0	3	9	40
MUT:CASZ1:Ala1083Val	PROT:Q86V15	CASZ1	A	1083	V	A1083V	Likely benign	0	1	13	63
MUT:CASZ1:Gly187Ser	PROT:Q86V15	CASZ1	G	187	S	G187S	Pathogenic	1	1	13	18
MUT:CASZ1:Ser721Gly	PROT:Q86V15	CASZ1	S	721	G	S721G	Likely benign	0	1	13	0
MUT:CASZ1:Val537Ile	PROT:Q86V15	CASZ1	V	537	I	V537I	Likely benign	0	1	13	178
MUT:CAV1:Arg146Pro	PROT:Q03135	CAV1	R	146	P	R146P	Likely benign	0	1	13	22
MUT:CAV1:Asp34Glu	PROT:Q03135	CAV1	D	34	E	D34E	Likely benign	0	1	13	8
MUT:CAV1:Ile178Lys	PROT:Q03135	CAV1	I	178	K	I178K	Likely benign	0	2	13	2
MUT:CAV1:Leu174Met	PROT:Q03135	CAV1	L	174	M	L174M	Likely benign	0	1	13	2
MUT:CAV1:Leu36Met	PROT:Q03135	CAV1	L	36	M	L36M	Likely benign	0	1	13	10
MUT:CAV1:Ser37Asn	PROT:Q03135	CAV1	S	37	N	S37N	Likely benign	0	1	13	11
MUT:CAV1:Val170Ile	PROT:Q03135	CAV1	V	170	I	V170I	Likely benign	0	1	13	2
MUT:CCAR2:Arg418Gln	PROT:Q8N163	CCAR2	R	418	Q	R418Q	Likely benign	0	1	28	8
MUT:CCAR2:Gln603His	PROT:Q8N163	CCAR2	Q	603	H	Q603H	Benign	0	1	28	6
MUT:CCAR2:Glu577Ala	PROT:Q8N163	CCAR2	E	577	A	E577A	Likely benign	0	1	28	8
MUT:CCBE1:Arg167Trp	PROT:Q6UXH8	CCBE1	R	167	W	R167W	Benign	0	1	2	8
MUT:CCBE1:Arg399Gly	PROT:Q6UXH8	CCBE1	R	399	G	R399G	Likely benign	0	1	2	224
MUT:CCBE1:Asp41Glu	PROT:Q6UXH8	CCBE1	D	41	E	D41E	Benign	0	1	2	29
MUT:CCBE1:Cys102Ser	PROT:Q6UXH8	CCBE1	C	102	S	C102S	Pathogenic	1	1	2	32
MUT:CCBE1:Cys174Arg	PROT:Q6UXH8	CCBE1	C	174	R	C174R	Pathogenic	1	1	2	1
MUT:CCBE1:Cys98Tyr	PROT:Q6UXH8	CCBE1	C	98	Y	C98Y	Likely pathogenic	1	1	2	28
MUT:CCBE1:Gly327Arg	PROT:Q6UXH8	CCBE1	G	327	R	G327R	Pathogenic	1	1	2	152
MUT:CCBE1:His186Arg	PROT:Q6UXH8	CCBE1	H	186	R	H186R	Benign/Likely benign	0	2	2	11
MUT:CCBE1:Pro181Ser	PROT:Q6UXH8	CCBE1	P	181	S	P181S	Benign/Likely benign	0	2	2	6
MUT:CCBE1:Thr243Ala	PROT:Q6UXH8	CCBE1	T	243	A	T243A	Likely benign	0	1	2	68
MUT:CCDC122:Ile254Val	PROT:Q5T0U0	CCDC122	I	254	V	I254V	Benign	0	2	1	215
MUT:CCDC134:Met1Thr	PROT:Q9H6E4	CCDC134	M	1	T	M1T	Pathogenic	1	3	3	50
MUT:CCDC13:Asp55Gly	PROT:Q8IYE1	CCDC13	D	55	G	D55G	Benign	0	6	3	100
MUT:CCDC141:Arg222His	PROT:Q6ZP82	CCDC141	R	222	H	R222H	Benign	0	1	1	890
MUT:CCDC141:Arg468Trp	PROT:Q6ZP82	CCDC141	R	468	W	R468W	Benign	0	1	1	644
MUT:CCDC141:Gln507His	PROT:Q6ZP82	CCDC141	Q	507	H	Q507H	Likely benign	0	2	1	605
MUT:CCDC141:Leu872Val	PROT:Q6ZP82	CCDC141	L	872	V	L872V	Likely benign	0	1	1	240
MUT:CCDC141:Ser864Phe	PROT:Q6ZP82	CCDC141	S	864	F	S864F	Likely benign	0	1	1	248
MUT:CCDC141:Tyr556Cys	PROT:Q6ZP82	CCDC141	Y	556	C	Y556C	Benign/Likely benign	0	1	1	556
MUT:CCDC141:Val1457Ile	PROT:Q6ZP82	CCDC141	V	1457	I	V1457I	Likely benign	0	1	1	345
MUT:CCDC141:Val261Leu	PROT:Q6ZP82	CCDC141	V	261	L	V261L	Benign	0	1	1	851
MUT:CCDC141:Val534Ile	PROT:Q6ZP82	CCDC141	V	534	I	V534I	Likely benign	0	1	1	578
MUT:CCDC146:Arg362Gly	PROT:Q8IYE0	CCDC146	R	362	G	R362G	Pathogenic	1	1	5	94
MUT:CCDC174:Arg122His	PROT:Q6PII3	CCDC174	R	122	H	R122H	Benign	0	1	1	279
MUT:CCDC174:Asp103Asn	PROT:Q6PII3	CCDC174	D	103	N	D103N	Likely benign	0	3	1	298
MUT:CCDC174:Ser159Asn	PROT:Q6PII3	CCDC174	S	159	N	S159N	Likely benign	0	1	1	242
MUT:CCDC186:Asn109Ser	PROT:Q7Z3E2	CCDC186	N	109	S	N109S	Likely benign	0	1	10	6
MUT:CCDC186:Asn842Ser	PROT:Q7Z3E2	CCDC186	N	842	S	N842S	Likely benign	0	1	10	44
MUT:CCDC186:Ser87Leu	PROT:Q7Z3E2	CCDC186	S	87	L	S87L	Likely benign	0	1	10	16
MUT:CCDC186:Val277Ile	PROT:Q7Z3E2	CCDC186	V	277	I	V277I	Likely benign	0	1	10	136
MUT:CCDC18:Arg1108Ser	PROT:Q5T9S5	CCDC18	R	1108	S	R1108S	Benign	0	14	17	40
MUT:CCDC18:Arg429Cys	PROT:Q5T9S5	CCDC18	R	429	C	R429C	Benign	0	1	17	24
MUT:CCDC18:Asn326Thr	PROT:Q5T9S5	CCDC18	N	326	T	N326T	Benign	0	1	17	16
MUT:CCDC18:Asn897Asp	PROT:Q5T9S5	CCDC18	N	897	D	N897D	Benign	0	1	17	76
MUT:CCDC18:Asp1269Glu	PROT:Q5T9S5	CCDC18	D	1269	E	D1269E	Benign	0	1	17	201
MUT:CCDC18:Glu443Asp	PROT:Q5T9S5	CCDC18	E	443	D	E443D	Benign	0	1	17	14
MUT:CCDC18:Glu571Lys	PROT:Q5T9S5	CCDC18	E	571	K	E571K	Likely benign	0	1	17	9
MUT:CCDC18:Ile1306Phe	PROT:Q5T9S5	CCDC18	I	1306	F	I1306F	Benign	0	1	17	238
MUT:CCDC18:Leu1081Val	PROT:Q5T9S5	CCDC18	L	1081	V	L1081V	Benign	0	5	17	13
MUT:CCDC18:Leu448Pro	PROT:Q5T9S5	CCDC18	L	448	P	L448P	Likely benign	0	1	17	9
MUT:CCDC18:Pro490His	PROT:Q5T9S5	CCDC18	P	490	H	P490H	Likely benign	0	4	17	33
MUT:CCDC18:Ser480Gly	PROT:Q5T9S5	CCDC18	S	480	G	S480G	Likely benign	0	1	17	23
MUT:CCDC39:Ala202Thr	PROT:Q9UFE4	CCDC39	A	202	T	A202T	Benign/Likely benign	0	2	2	173
MUT:CCDC39:Arg621Trp	PROT:Q9UFE4	CCDC39	R	621	W	R621W	Likely benign	0	1	2	28
MUT:CCDC39:Arg78His	PROT:Q9UFE4	CCDC39	R	78	H	R78H	Benign/Likely benign	0	2	2	297
MUT:CCDC39:Arg811His	PROT:Q9UFE4	CCDC39	R	811	H	R811H	Benign/Likely benign	0	2	2	218
MUT:CCDC39:Arg876His	PROT:Q9UFE4	CCDC39	R	876	H	R876H	Likely benign	0	1	2	283
MUT:CCDC39:Asp117Gly	PROT:Q9UFE4	CCDC39	D	117	G	D117G	Likely pathogenic	1	1	2	258
MUT:CCDC39:Cys244Arg	PROT:Q9UFE4	CCDC39	C	244	R	C244R	Likely benign	0	1	2	131
MUT:CCDC39:Cys803Tyr	PROT:Q9UFE4	CCDC39	C	803	Y	C803Y	Benign/Likely benign	0	2	2	210
MUT:CCDC39:Gln478Arg	PROT:Q9UFE4	CCDC39	Q	478	R	Q478R	Benign/Likely benign	0	2	2	103
MUT:CCDC39:Gln744Glu	PROT:Q9UFE4	CCDC39	Q	744	E	Q744E	Benign	0	2	2	151
MUT:CCDC39:His519Asn	PROT:Q9UFE4	CCDC39	H	519	N	H519N	Likely benign	0	2	2	74
MUT:CCDC39:Ile273Thr	PROT:Q9UFE4	CCDC39	I	273	T	I273T	Likely benign	0	1	2	102
MUT:CCDC39:Leu158Val	PROT:Q9UFE4	CCDC39	L	158	V	L158V	Benign	0	2	2	217
MUT:CCDC39:Leu328Pro	PROT:Q9UFE4	CCDC39	L	328	P	L328P	Likely pathogenic	1	1	2	47
MUT:CCDC39:Leu487Val	PROT:Q9UFE4	CCDC39	L	487	V	L487V	Benign	0	1	2	106
MUT:CCDC39:Thr182Ser	PROT:Q9UFE4	CCDC39	T	182	S	T182S	Benign	0	2	2	193
MUT:CCDC39:Thr760Ala	PROT:Q9UFE4	CCDC39	T	760	A	T760A	Benign	0	2	2	167
MUT:CCDC88C:Ala1032Val	PROT:Q9P219	CCDC88C	A	1032	V	A1032V	Likely benign	0	1	35	9
MUT:CCDC88C:Ala990Val	PROT:Q9P219	CCDC88C	A	990	V	A990V	Likely benign	0	1	35	33
MUT:CCDC88C:Arg1494Gly	PROT:Q9P219	CCDC88C	R	1494	G	R1494G	Likely benign	0	1	35	2
MUT:CCDC88C:Arg1618Trp	PROT:Q9P219	CCDC88C	R	1618	W	R1618W	Likely benign	0	1	35	3
MUT:CCDC88C:Arg1879Trp	PROT:Q9P219	CCDC88C	R	1879	W	R1879W	Benign	0	1	35	32
MUT:CCDC88C:Arg1885His	PROT:Q9P219	CCDC88C	R	1885	H	R1885H	Benign/Likely benign	0	2	35	38
MUT:CCDC88C:Arg1946His	PROT:Q9P219	CCDC88C	R	1946	H	R1946H	Likely benign	0	1	35	17
MUT:CCDC88C:Arg1984Gln	PROT:Q9P219	CCDC88C	R	1984	Q	R1984Q	Benign/Likely benign	0	1	35	1
MUT:CCDC88C:Arg614Gln	PROT:Q9P219	CCDC88C	R	614	Q	R614Q	Likely benign	0	1	35	67
MUT:CCDC88C:Arg800Gln	PROT:Q9P219	CCDC88C	R	800	Q	R800Q	Likely benign	0	1	35	100
MUT:CCDC88C:Asn1087Ser	PROT:Q9P219	CCDC88C	N	1087	S	N1087S	Likely benign	0	1	35	64
MUT:CCDC88C:Glu386Asp	PROT:Q9P219	CCDC88C	E	386	D	E386D	Benign	0	1	35	60
MUT:CCDC88C:Glu655Lys	PROT:Q9P219	CCDC88C	E	655	K	E655K	Likely benign	0	1	35	26
MUT:CCDC88C:Glu665Lys	PROT:Q9P219	CCDC88C	E	665	K	E665K	Likely pathogenic	1	1	35	16
MUT:CCDC88C:Gly1044Ser	PROT:Q9P219	CCDC88C	G	1044	S	G1044S	Likely benign	0	1	35	21
MUT:CCDC88C:Gly1214Ser	PROT:Q9P219	CCDC88C	G	1214	S	G1214S	Benign/Likely benign	0	1	35	173
MUT:CCDC88C:Leu1992Pro	PROT:Q9P219	CCDC88C	L	1992	P	L1992P	Benign	0	2	35	7
MUT:CCDC88C:Leu637Val	PROT:Q9P219	CCDC88C	L	637	V	L637V	Benign	0	7	35	44
MUT:CCDC88C:Leu723Val	PROT:Q9P219	CCDC88C	L	723	V	L723V	Likely benign	0	1	35	23
MUT:CCDC88C:Leu759Phe	PROT:Q9P219	CCDC88C	L	759	F	L759F	Likely benign	0	1	35	59
MUT:CCDC88C:Met1248Val	PROT:Q9P219	CCDC88C	M	1248	V	M1248V	Likely benign	0	1	35	139
MUT:CCDC88C:Met1508Val	PROT:Q9P219	CCDC88C	M	1508	V	M1508V	Likely benign	0	1	35	2
MUT:CCDC88C:Pro1738Ser	PROT:Q9P219	CCDC88C	P	1738	S	P1738S	Likely benign	0	1	35	2
MUT:CCDC88C:Pro1744Leu	PROT:Q9P219	CCDC88C	P	1744	L	P1744L	Likely benign	0	1	35	4
MUT:CCDC88C:Pro1794Arg	PROT:Q9P219	CCDC88C	P	1794	R	P1794R	Benign/Likely benign	0	1	35	12
MUT:CCDC88C:Pro1969Leu	PROT:Q9P219	CCDC88C	P	1969	L	P1969L	Likely benign	0	1	35	6
MUT:CCDC88C:Ser1422Leu	PROT:Q9P219	CCDC88C	S	1422	L	S1422L	Benign/Likely benign	0	1	35	22
MUT:CCDC88C:Ser1704Asn	PROT:Q9P219	CCDC88C	S	1704	N	S1704N	Likely benign	0	1	35	36
MUT:CCDC88C:Ser1740Leu	PROT:Q9P219	CCDC88C	S	1740	L	S1740L	Likely benign	0	1	35	0
MUT:CCDC88C:Ser1985Cys	PROT:Q9P219	CCDC88C	S	1985	C	S1985C	Benign	0	1	35	0
MUT:CCDC88C:Ser953Gly	PROT:Q9P219	CCDC88C	S	953	G	S953G	Likely benign	0	1	35	70
MUT:CCDC88C:Thr274Ile	PROT:Q9P219	CCDC88C	T	274	I	T274I	Likely pathogenic	1	1	35	31
MUT:CCDC88C:Tyr1545Cys	PROT:Q9P219	CCDC88C	Y	1545	C	Y1545C	Likely benign	0	1	35	10
MUT:CCDC88C:Val1787Met	PROT:Q9P219	CCDC88C	V	1787	M	V1787M	Likely benign	0	1	35	19
MUT:CCDC8:Ala349Pro	PROT:Q9H0W5	CCDC8	A	349	P	A349P	Benign/Likely benign	0	1	10	47
MUT:CCDC8:Arg433Gln	PROT:Q9H0W5	CCDC8	R	433	Q	R433Q	Likely benign	0	1	10	54
MUT:CCDC8:Glu337Ala	PROT:Q9H0W5	CCDC8	E	337	A	E337A	Likely benign	0	1	10	35
MUT:CCDC8:His383Gln	PROT:Q9H0W5	CCDC8	H	383	Q	H383Q	Likely benign	0	1	10	81
MUT:CCDC8:Ser261Pro	PROT:Q9H0W5	CCDC8	S	261	P	S261P	Likely benign	0	1	10	0
MUT:CCDC8:Ser261Tyr	PROT:Q9H0W5	CCDC8	S	261	Y	S261Y	Benign/Likely benign	0	1	10	0
MUT:CCDC8:Thr282Ala	PROT:Q9H0W5	CCDC8	T	282	A	T282A	Likely benign	0	1	10	9
MUT:CCDC93:Thr17Ile	PROT:Q567U6	CCDC93	T	17	I	T17I	Likely benign	0	1	25	28
MUT:CCKAR:Gly21Arg	PROT:P32238	CCKAR	G	21	R	G21R	Benign	0	1	1	242
MUT:CCKAR:Val365Ile	PROT:P32238	CCKAR	V	365	I	V365I	Benign	0	1	1	102
MUT:CCM2:Ala123Pro	PROT:Q9BSQ5	CCM2	A	123	P	A123P	Pathogenic	1	1	10	27
MUT:CCM2:Ala171Val	PROT:Q9BSQ5	CCM2	A	171	V	A171V	Likely benign	0	1	10	7
MUT:CCM2:Asn327Asp	PROT:Q9BSQ5	CCM2	N	327	D	N327D	Likely benign	0	1	10	47
MUT:CCM2:Asn327Ser	PROT:Q9BSQ5	CCM2	N	327	S	N327S	Benign/Likely benign	0	1	10	47
MUT:CCM2:Ile226Val	PROT:Q9BSQ5	CCM2	I	226	V	I226V	Likely benign	0	1	10	12
MUT:CCM2:Leu113Pro	PROT:Q9BSQ5	CCM2	L	113	P	L113P	Pathogenic	1	1	10	17
MUT:CCM2:Leu122Arg	PROT:Q9BSQ5	CCM2	L	122	R	L122R	Pathogenic	1	1	10	26
MUT:CCM2:Leu195Arg	PROT:Q9BSQ5	CCM2	L	195	R	L195R	Likely pathogenic	1	1	10	31
MUT:CCM2:Leu198Arg	PROT:Q9BSQ5	CCM2	L	198	R	L198R	Pathogenic	1	1	10	34
MUT:CCM2:Leu198Pro	PROT:Q9BSQ5	CCM2	L	198	P	L198P	Pathogenic	1	1	10	34
MUT:CCM2:Leu212Pro	PROT:Q9BSQ5	CCM2	L	212	P	L212P	Likely pathogenic	1	1	10	26
MUT:CCM2:Lys309Arg	PROT:Q9BSQ5	CCM2	K	309	R	K309R	Benign	0	2	10	29
MUT:CCM2:Met1Val	PROT:Q9BSQ5	CCM2	M	1	V	M1V	Pathogenic	1	1	10	64
MUT:CCM2:Ser289Asn	PROT:Q9BSQ5	CCM2	S	289	N	S289N	Benign	0	1	10	9
MUT:CCM2:Thr394Ser	PROT:Q9BSQ5	CCM2	T	394	S	T394S	Likely benign	0	1	10	0
MUT:CCM2:Val120Ile	PROT:Q9BSQ5	CCM2	V	120	I	V120I	Benign	0	2	10	24
MUT:CCM2:Val53Ile	PROT:Q9BSQ5	CCM2	V	53	I	V53I	Benign	0	1	10	12
MUT:CCN2:Arg22Pro	PROT:P29279	CCN2	R	22	P	R22P	Pathogenic	1	1	2	123
MUT:CCN2:Cys148Tyr	PROT:P29279	CCN2	C	148	Y	C148Y	Pathogenic	1	1	2	3
MUT:CCNK:Lys111Glu	PROT:O75909	CCNK	K	111	E	K111E	Pathogenic	1	1	7	100
MUT:CCNL2:Ser25Cys	PROT:Q96S94	CCNL2	S	25	C	S25C	Likely benign	0	2	16	0
MUT:CCR5:Ala335Val	PROT:P51681	CCR5	A	335	V	A335V	Benign	0	1	6	1
MUT:CCR5:Arg223Gln	PROT:P51681	CCR5	R	223	Q	R223Q	Benign	0	1	6	113
MUT:CCR5:Gly106Arg	PROT:P51681	CCR5	G	106	R	G106R	Likely benign	0	1	6	230
MUT:CD109:Ile206Val	PROT:Q6YHK3	CD109	I	206	V	I206V	Benign	0	6	16	37
MUT:CD109:Pro570Leu	PROT:Q6YHK3	CD109	P	570	L	P570L	Likely benign	0	1	16	9
MUT:CD163:Asn642Lys	PROT:Q86VB7	CD163	N	642	K	N642K	Benign	0	6	3	430
MUT:CD163L1:Glu725Asp	PROT:Q9NR16	CD163L1	E	725	D	E725D	Likely benign	0	1	2	132
MUT:CD164:Arg192Gln	PROT:Q04900	CD164	R	192	Q	R192Q	Likely benign	0	1	1	2
MUT:CD164:Asn65Ser	PROT:Q04900	CD164	N	65	S	N65S	Likely benign	0	1	1	125
MUT:CD164:Ser44Leu	PROT:Q04900	CD164	S	44	L	S44L	Benign/Likely benign	0	1	1	146
MUT:CD164:Thr55Ser	PROT:Q04900	CD164	T	55	S	T55S	Likely benign	0	1	1	135
MUT:CD276:Arg113His	PROT:Q5ZPR3	CD276	R	113	H	R113H	Likely benign	0	1	8	7
MUT:CD28:Gly18Arg	PROT:P10747	CD28	G	18	R	G18R	Pathogenic	1	1	7	118
MUT:CD2AP:Ala558Val	PROT:Q9Y5K6	CD2AP	A	558	V	A558V	Benign/Likely benign	0	2	57	1
MUT:CD2AP:Arg21Gln	PROT:Q9Y5K6	CD2AP	R	21	Q	R21Q	Likely benign	0	1	57	46
MUT:CD2AP:Asn581Lys	PROT:Q9Y5K6	CD2AP	N	581	K	N581K	Benign/Likely benign	0	1	57	1
MUT:CD2AP:Ile104Val	PROT:Q9Y5K6	CD2AP	I	104	V	I104V	Likely benign	0	1	57	2
MUT:CD2AP:Ile259Val	PROT:Q9Y5K6	CD2AP	I	259	V	I259V	Likely benign	0	1	57	1
MUT:CD2AP:Lys633Arg	PROT:Q9Y5K6	CD2AP	K	633	R	K633R	Benign/Likely benign	0	2	57	2
MUT:CD2AP:Pro394Gln	PROT:Q9Y5K6	CD2AP	P	394	Q	P394Q	Benign/Likely benign	0	1	57	1
MUT:CD2AP:Pro566Ser	PROT:Q9Y5K6	CD2AP	P	566	S	P566S	Likely benign	0	1	57	1
MUT:CD2AP:Thr374Ala	PROT:Q9Y5K6	CD2AP	T	374	A	T374A	Benign/Likely benign	0	2	57	5
MUT:CD2AP:Thr551Ala	PROT:Q9Y5K6	CD2AP	T	551	A	T551A	Likely benign	0	1	57	0
MUT:CD3E:Ala108Val	PROT:P07766	CD3E	A	108	V	A108V	Benign	0	2	5	4
MUT:CD3E:Pro35Ser	PROT:P07766	CD3E	P	35	S	P35S	Benign/Likely benign	0	1	5	69
MUT:CD40:Cys83Arg	PROT:P25942	CD40	C	83	R	C83R	Pathogenic	1	1	1	189
MUT:CD40:Glu144Lys	PROT:P25942	CD40	E	144	K	E144K	Likely pathogenic	1	1	1	128
MUT:CD40:Pro227Ala	PROT:P25942	CD40	P	227	A	P227A	Benign	0	1	1	45
MUT:CD40:Ser124Leu	PROT:P25942	CD40	S	124	L	S124L	Benign	0	1	1	148
MUT:CD46:Ala338Val	PROT:P15529	CD46	A	338	V	A338V	Benign/Likely benign	0	3	6	101
MUT:CD46:Cys127Phe	PROT:P15529	CD46	C	127	F	C127F	Likely pathogenic	1	1	6	26
MUT:CD46:Cys141Tyr	PROT:P15529	CD46	C	141	Y	C141Y	Likely pathogenic	1	1	6	12
MUT:CD46:His173Arg	PROT:P15529	CD46	H	173	R	H173R	Likely pathogenic	1	1	6	6
MUT:CD46:Met1Lys	PROT:P15529	CD46	M	1	K	M1K	Likely pathogenic	1	1	6	65
MUT:CD46:Pro165Ser	PROT:P15529	CD46	P	165	S	P165S	Likely pathogenic	1	1	6	2
MUT:CD46:Ser13Phe	PROT:P15529	CD46	S	13	F	S13F	Benign/Likely benign	0	3	6	53
MUT:CD4:Arg265Trp	PROT:P01730	CD4	R	265	W	R265W	Benign	0	2	2	191
MUT:CD4:Met1Val	PROT:P01730	CD4	M	1	V	M1V	Pathogenic	1	1	2	73
MUT:CD70:Arg138His	PROT:P32970	CD70	R	138	H	R138H	Likely benign	0	1	2	45
MUT:CD70:Asn203Ser	PROT:P32970	CD70	N	203	S	N203S	Likely benign	0	1	2	110
MUT:CD70:His87Arg	PROT:P32970	CD70	H	87	R	H87R	Likely benign	0	1	2	3
MUT:CD79A:Gly101Arg	PROT:P11912	CD79A	G	101	R	G101R	Likely benign	0	1	5	40
MUT:CD79B:Gly137Ser	PROT:P40259	CD79B	G	137	S	G137S	Pathogenic	1	1	3	9
MUT:CD79B:Tyr196His	PROT:P40259	CD79B	Y	196	H	Y196H	Likely pathogenic	1	2	3	0
MUT:CD8A:Gly111Ser	PROT:P01732	CD8A	G	111	S	G111S	Pathogenic	1	1	2	118
MUT:CD8A:Leu100Phe	PROT:P01732	CD8A	L	100	F	L100F	Benign/Likely benign	0	1	2	129
MUT:CD8A:Leu16Phe	PROT:P01732	CD8A	L	16	F	L16F	Likely benign	0	1	2	213
MUT:CD93:Arg496Cys	PROT:Q9NPY3	CD93	R	496	C	R496C	Likely benign	0	1	5	131
MUT:CD93:Arg496His	PROT:Q9NPY3	CD93	R	496	H	R496H	Likely benign	0	1	5	131
MUT:CD93:Val117Gly	PROT:Q9NPY3	CD93	V	117	G	V117G	Benign	0	1	5	66
MUT:CD93:Val543Ile	PROT:Q9NPY3	CD93	V	543	I	V543I	Likely benign	0	1	5	84
MUT:CD96:Ala142Pro	PROT:P40200	CD96	A	142	P	A142P	Benign	0	1	3	82
MUT:CD96:Arg271Gly	PROT:P40200	CD96	R	271	G	R271G	Likely benign	0	1	3	22
MUT:CD96:Thr264Met	PROT:P40200	CD96	T	264	M	T264M	Pathogenic	1	1	3	29
MUT:CD99L2:Asp175Asn	PROT:Q8TCZ2	CD99L2	D	175	N	D175N	Benign/Likely benign	0	1	2	12
MUT:CDAN1:Ala1016Thr	PROT:Q8IWY9	CDAN1	A	1016	T	A1016T	Benign/Likely benign	0	1	8	303
MUT:CDAN1:Ala148Val	PROT:Q8IWY9	CDAN1	A	148	V	A148V	Benign	0	2	8	77
MUT:CDAN1:Ala689Glu	PROT:Q8IWY9	CDAN1	A	689	E	A689E	Likely pathogenic	1	1	8	12
MUT:CDAN1:Arg1042Trp	PROT:Q8IWY9	CDAN1	R	1042	W	R1042W	Pathogenic/Likely pathogenic	1	2	8	329
MUT:CDAN1:Arg1065Gln	PROT:Q8IWY9	CDAN1	R	1065	Q	R1065Q	Benign/Likely benign	0	3	8	352
MUT:CDAN1:Arg129His	PROT:Q8IWY9	CDAN1	R	129	H	R129H	Benign/Likely benign	0	2	8	58
MUT:CDAN1:Arg687Cys	PROT:Q8IWY9	CDAN1	R	687	C	R687C	Benign/Likely benign	0	3	8	14
MUT:CDAN1:Arg714Trp	PROT:Q8IWY9	CDAN1	R	714	W	R714W	Pathogenic/Likely pathogenic	1	2	8	1
MUT:CDAN1:Arg891Cys	PROT:Q8IWY9	CDAN1	R	891	C	R891C	Benign	0	2	8	178
MUT:CDAN1:Arg946Trp	PROT:Q8IWY9	CDAN1	R	946	W	R946W	Benign/Likely benign	0	2	8	233
MUT:CDAN1:Asn599Ser	PROT:Q8IWY9	CDAN1	N	599	S	N599S	Likely pathogenic	1	2	8	69
MUT:CDAN1:Asp715Gly	PROT:Q8IWY9	CDAN1	D	715	G	D715G	Likely benign	0	1	8	2
MUT:CDAN1:Gln107Leu	PROT:Q8IWY9	CDAN1	Q	107	L	Q107L	Benign	0	2	8	36
MUT:CDAN1:Gln596Arg	PROT:Q8IWY9	CDAN1	Q	596	R	Q596R	Benign	0	2	8	72
MUT:CDAN1:Gln913Leu	PROT:Q8IWY9	CDAN1	Q	913	L	Q913L	Benign/Likely benign	0	1	8	200
MUT:CDAN1:Glu356Lys	PROT:Q8IWY9	CDAN1	E	356	K	E356K	Likely benign	0	1	8	71
MUT:CDAN1:Gly657Ser	PROT:Q8IWY9	CDAN1	G	657	S	G657S	Benign	0	2	8	11
MUT:CDAN1:Ile1096Val	PROT:Q8IWY9	CDAN1	I	1096	V	I1096V	Likely benign	0	1	8	383
MUT:CDAN1:Ile917Ser	PROT:Q8IWY9	CDAN1	I	917	S	I917S	Benign/Likely benign	0	3	8	204
MUT:CDAN1:Leu1113Pro	PROT:Q8IWY9	CDAN1	L	1113	P	L1113P	Likely pathogenic	1	1	8	400
MUT:CDAN1:Leu696Gln	PROT:Q8IWY9	CDAN1	L	696	Q	L696Q	Pathogenic	1	1	8	5
MUT:CDAN1:Phe52Leu	PROT:Q8IWY9	CDAN1	F	52	L	F52L	Pathogenic/Likely pathogenic	1	3	8	19
MUT:CDAN1:Phe868Ile	PROT:Q8IWY9	CDAN1	F	868	I	F868I	Pathogenic	1	1	8	155
MUT:CDAN1:Pro1130Leu	PROT:Q8IWY9	CDAN1	P	1130	L	P1130L	Pathogenic/Likely pathogenic	1	2	8	417
MUT:CDAN1:Pro51Leu	PROT:Q8IWY9	CDAN1	P	51	L	P51L	Likely pathogenic	1	2	8	20
MUT:CDAN1:Pro672Leu	PROT:Q8IWY9	CDAN1	P	672	L	P672L	Pathogenic/Likely pathogenic	1	2	8	4
MUT:CDAN1:Ser532Asn	PROT:Q8IWY9	CDAN1	S	532	N	S532N	Likely benign	0	1	8	136
MUT:CDAN1:Ser733Asn	PROT:Q8IWY9	CDAN1	S	733	N	S733N	Likely benign	0	1	8	20
MUT:CDAN1:Thr656Ser	PROT:Q8IWY9	CDAN1	T	656	S	T656S	Likely benign	0	4	8	12
MUT:CDC14A:Arg312Gln	PROT:Q9UNH5	CDC14A	R	312	Q	R312Q	Pathogenic/Likely pathogenic	1	1	10	99
MUT:CDC14A:Arg312Gly	PROT:Q9UNH5	CDC14A	R	312	G	R312G	Pathogenic/Likely pathogenic	1	1	10	99
MUT:CDC14A:Asn515Ser	PROT:Q9UNH5	CDC14A	N	515	S	N515S	Likely benign	0	1	10	23
MUT:CDC14A:Gln320Pro	PROT:Q9UNH5	CDC14A	Q	320	P	Q320P	Likely pathogenic	1	1	10	91
MUT:CDC14A:Gln535Arg	PROT:Q9UNH5	CDC14A	Q	535	R	Q535R	Benign/Likely benign	0	1	10	14
MUT:CDC14A:Gly571Arg	PROT:Q9UNH5	CDC14A	G	571	R	G571R	Benign	0	3	10	22
MUT:CDC14A:Ile364Val	PROT:Q9UNH5	CDC14A	I	364	V	I364V	Benign/Likely benign	0	1	10	47
MUT:CDC14A:Thr509Ile	PROT:Q9UNH5	CDC14A	T	509	I	T509I	Likely benign	0	1	10	17
MUT:CDC25A:Lys323Arg	PROT:P30304	CDC25A	K	323	R	K323R	Likely benign	0	2	23	23
MUT:CDC25A:Ser88Phe	PROT:P30304	CDC25A	S	88	F	S88F	Likely pathogenic	1	1	23	0
MUT:CDC42:Arg186Cys	PROT:P60953	CDC42	R	186	C	R186C	Pathogenic	1	3	1	122
MUT:CDC42:Arg66Gly	PROT:P60953	CDC42	R	66	G	R66G	Pathogenic	1	1	1	2
MUT:CDC42:Arg68Gln	PROT:P60953	CDC42	R	68	Q	R68Q	Pathogenic	1	1	1	4
MUT:CDC42:Asp76Val	PROT:P60953	CDC42	D	76	V	D76V	Likely pathogenic	1	1	1	12
MUT:CDC42:Cys81Phe	PROT:P60953	CDC42	C	81	F	C81F	Likely pathogenic	1	1	1	17
MUT:CDC42:Glu171Lys	PROT:P60953	CDC42	E	171	K	E171K	Pathogenic	1	2	1	107
MUT:CDC42:Ile21Thr	PROT:P60953	CDC42	I	21	T	I21T	Likely pathogenic	1	1	1	43
MUT:CDC42:Ile46Thr	PROT:P60953	CDC42	I	46	T	I46T	Likely pathogenic	1	1	1	18
MUT:CDC42:Ser83Pro	PROT:P60953	CDC42	S	83	P	S83P	Pathogenic	1	1	1	19
MUT:CDC42:Trp97Cys	PROT:P60953	CDC42	W	97	C	W97C	Likely pathogenic	1	1	1	33
MUT:CDC42:Tyr23Cys	PROT:P60953	CDC42	Y	23	C	Y23C	Pathogenic	1	4	1	41
MUT:CDC42:Tyr23His	PROT:P60953	CDC42	Y	23	H	Y23H	Likely pathogenic	1	1	1	41
MUT:CDC42:Tyr64Cys	PROT:P60953	CDC42	Y	64	C	Y64C	Pathogenic/Likely pathogenic	1	1	1	0
MUT:CDC45:Ala298Val	PROT:O75419	CDC45	A	298	V	A298V	Likely pathogenic	1	1	20	3
MUT:CDC45:Asn146Ser	PROT:O75419	CDC45	N	146	S	N146S	Likely benign	0	1	20	2
MUT:CDC45:Asn540Asp	PROT:O75419	CDC45	N	540	D	N540D	Likely benign	0	1	20	10
MUT:CDC45:Asn76His	PROT:O75419	CDC45	N	76	H	N76H	Likely pathogenic	1	1	20	60
MUT:CDC45:Asp122Gly	PROT:O75419	CDC45	D	122	G	D122G	Likely benign	0	1	20	22
MUT:CDC45:Asp226Gly	PROT:O75419	CDC45	D	226	G	D226G	Likely pathogenic	1	1	20	11
MUT:CDC45:Gln68Arg	PROT:O75419	CDC45	Q	68	R	Q68R	Likely pathogenic	1	1	20	52
MUT:CDC45:Glu155Gly	PROT:O75419	CDC45	E	155	G	E155G	Likely benign	0	1	20	4
MUT:CDC45:Met537Thr	PROT:O75419	CDC45	M	537	T	M537T	Likely benign	0	1	20	9
MUT:CDC45:Pro463Leu	PROT:O75419	CDC45	P	463	L	P463L	Pathogenic/Likely pathogenic	1	1	20	2
MUT:CDC45:Val81Ile	PROT:O75419	CDC45	V	81	I	V81I	Benign/Likely benign	0	1	20	63
MUT:CDC73:Leu132Val	PROT:Q6P1J9	CDC73	L	132	V	L132V	Likely benign	0	1	30	18
MUT:CDC73:Leu63Pro	PROT:Q6P1J9	CDC73	L	63	P	L63P	Pathogenic	1	1	30	16
MUT:CDC73:Leu64Pro	PROT:Q6P1J9	CDC73	L	64	P	L64P	Likely pathogenic	1	2	30	17
MUT:CDC73:Leu95Arg	PROT:Q6P1J9	CDC73	L	95	R	L95R	Likely pathogenic	1	1	30	10
MUT:CDC73:Met1Ile	PROT:Q6P1J9	CDC73	M	1	I	M1I	Pathogenic	1	2	30	1
MUT:CDC73:Met1Leu	PROT:Q6P1J9	CDC73	M	1	L	M1L	Pathogenic	1	1	30	1
MUT:CDC73:Met1Thr	PROT:Q6P1J9	CDC73	M	1	T	M1T	Pathogenic	1	1	30	1
MUT:CDC73:Met1Val	PROT:Q6P1J9	CDC73	M	1	V	M1V	Pathogenic	1	1	30	1
MUT:CDC73:Pro350Ala	PROT:Q6P1J9	CDC73	P	350	A	P350A	Likely benign	0	1	30	4
MUT:CDC73:Thr279Ser	PROT:Q6P1J9	CDC73	T	279	S	T279S	Likely benign	0	1	30	4
MUT:CDH11:Ala555Val	PROT:P55287	CDH11	A	555	V	A555V	Likely benign	0	1	7	159
MUT:CDH11:Arg32Gln	PROT:P55287	CDH11	R	32	Q	R32Q	Likely benign	0	1	7	67
MUT:CDH11:Asp260Asn	PROT:P55287	CDH11	D	260	N	D260N	Pathogenic/Likely pathogenic	1	2	7	41
MUT:CDH11:Asp260Glu	PROT:P55287	CDH11	D	260	E	D260E	Pathogenic	1	1	7	41
MUT:CDH11:Asp260His	PROT:P55287	CDH11	D	260	H	D260H	Likely pathogenic	1	1	7	41
MUT:CDH11:Glu279Gln	PROT:P55287	CDH11	E	279	Q	E279Q	Pathogenic	1	1	7	60
MUT:CDH11:Gly327Trp	PROT:P55287	CDH11	G	327	W	G327W	Pathogenic	1	1	7	38
MUT:CDH11:Ile456Phe	PROT:P55287	CDH11	I	456	F	I456F	Likely benign	0	1	7	91
MUT:CDH11:Ile691Met	PROT:P55287	CDH11	I	691	M	I691M	Likely benign	0	1	7	23
MUT:CDH11:Leu77Phe	PROT:P55287	CDH11	L	77	F	L77F	Likely pathogenic	1	1	7	22
MUT:CDH11:Met275Ile	PROT:P55287	CDH11	M	275	I	M275I	Benign	0	1	7	56
MUT:CDH11:Pro416Leu	PROT:P55287	CDH11	P	416	L	P416L	Likely benign	0	1	7	51
MUT:CDH11:Ser373Ala	PROT:P55287	CDH11	S	373	A	S373A	Benign	0	1	7	8
MUT:CDH11:Thr255Met	PROT:P55287	CDH11	T	255	M	T255M	Benign	0	3	7	36
MUT:CDH11:Trp55Ser	PROT:P55287	CDH11	W	55	S	W55S	Pathogenic	1	1	7	44
MUT:CDH11:Tyr568His	PROT:P55287	CDH11	Y	568	H	Y568H	Likely benign	0	1	7	146
MUT:CDH11:Val347Leu	PROT:P55287	CDH11	V	347	L	V347L	Benign	0	1	7	18
MUT:CDH11:Val374Glu	PROT:P55287	CDH11	V	374	E	V374E	Pathogenic	1	1	7	9
MUT:CDH15:Ala122Val	PROT:P55291	CDH15	A	122	V	A122V	Likely benign	0	2	1	515
MUT:CDH15:Arg60Cys	PROT:P55291	CDH15	R	60	C	R60C	Likely benign	0	1	1	577
MUT:CDH15:Asn256Ile	PROT:P55291	CDH15	N	256	I	N256I	Likely benign	0	1	1	381
MUT:CDH15:Leu672Pro	PROT:P55291	CDH15	L	672	P	L672P	Likely benign	0	1	1	35
MUT:CDH15:Lys584Gln	PROT:P55291	CDH15	K	584	Q	K584Q	Benign	0	1	1	53
MUT:CDH15:Tyr763Cys	PROT:P55291	CDH15	Y	763	C	Y763C	Likely benign	0	1	1	126
MUT:CDH19:Ala653Asp	PROT:Q9H159	CDH19	A	653	D	A653D	Benign	0	1	6	22
MUT:CDH19:Ala712Thr	PROT:Q9H159	CDH19	A	712	T	A712T	Benign	0	1	6	20
MUT:CDH19:Asn25Asp	PROT:Q9H159	CDH19	N	25	D	N25D	Benign	0	1	6	86
MUT:CDH19:Cys19Ser	PROT:Q9H159	CDH19	C	19	S	C19S	Benign	0	1	6	92
MUT:CDH19:Gln360Arg	PROT:Q9H159	CDH19	Q	360	R	Q360R	Likely benign	0	1	6	247
MUT:CDH19:Glu151Gln	PROT:Q9H159	CDH19	E	151	Q	E151Q	Likely benign	0	1	6	38
MUT:CDH19:Gly646Ser	PROT:Q9H159	CDH19	G	646	S	G646S	Likely benign	0	1	6	15
MUT:CDH19:Gly727Val	PROT:Q9H159	CDH19	G	727	V	G727V	Benign	0	1	6	35
MUT:CDH19:His326Pro	PROT:Q9H159	CDH19	H	326	P	H326P	Likely benign	0	1	6	213
MUT:CDH19:Ile408Val	PROT:Q9H159	CDH19	I	408	V	I408V	Likely benign	0	1	6	222
MUT:CDH19:Met160Leu	PROT:Q9H159	CDH19	M	160	L	M160L	Likely benign	0	1	6	47
MUT:CDH19:Thr89Ile	PROT:Q9H159	CDH19	T	89	I	T89I	Benign	0	1	6	22
MUT:CDH22:Val383Met	PROT:Q9UJ99	CDH22	V	383	M	V383M	Likely benign	0	1	3	69
MUT:CDH3:Arg363Cys	PROT:P22223	CDH3	R	363	C	R363C	Benign/Likely benign	0	4	4	4
MUT:CDH3:Arg477His	PROT:P22223	CDH3	R	477	H	R477H	Benign	0	1	4	118
MUT:CDH3:Arg503His	PROT:P22223	CDH3	R	503	H	R503H	Pathogenic/Likely pathogenic	1	3	4	144
MUT:CDH3:Asn322Ile	PROT:P22223	CDH3	N	322	I	N322I	Pathogenic	1	1	4	37
MUT:CDH3:Asn523Ser	PROT:P22223	CDH3	N	523	S	N523S	Benign	0	1	4	164
MUT:CDH3:Asp355Tyr	PROT:P22223	CDH3	D	355	Y	D355Y	Likely pathogenic	1	1	4	4
MUT:CDH3:Cys640Gly	PROT:P22223	CDH3	C	640	G	C640G	Likely pathogenic	1	1	4	73
MUT:CDH3:Gln563His	PROT:P22223	CDH3	Q	563	H	Q563H	Benign	0	1	4	150
MUT:CDH3:Gly277Asp	PROT:P22223	CDH3	G	277	D	G277D	Likely pathogenic	1	1	4	82
MUT:CDH3:Lys401Gln	PROT:P22223	CDH3	K	401	Q	K401Q	Likely benign	0	1	4	42
MUT:CDH3:Lys99Arg	PROT:P22223	CDH3	K	99	R	K99R	Likely benign	0	1	4	260
MUT:CDH3:Met1Ile	PROT:P22223	CDH3	M	1	I	M1I	Likely pathogenic	1	1	4	358
MUT:CDH3:Met269Leu	PROT:P22223	CDH3	M	269	L	M269L	Benign/Likely benign	0	2	4	90
MUT:CDH3:Val429Ile	PROT:P22223	CDH3	V	429	I	V429I	Benign/Likely benign	0	1	4	70
MUT:CDH4:Arg659Pro	PROT:P55283	CDH4	R	659	P	R659P	Likely pathogenic	1	1	9	113
MUT:CDH4:Lys625Arg	PROT:P55283	CDH4	K	625	R	K625R	Benign	0	1	9	79
MUT:CDH4:Val385Met	PROT:P55283	CDH4	V	385	M	V385M	Likely benign	0	1	9	119
MUT:CDHR2:Val1175Met	PROT:Q9BYE9	CDHR2	V	1175	M	V1175M	Likely benign	0	1	3	86
MUT:CDHR5:Ser585Gly	PROT:Q9HBB8	CDHR5	S	585	G	S585G	Likely benign	0	2	5	185
MUT:CDK10:Arg236Lys	PROT:Q15131	CDK10	R	236	K	R236K	Likely benign	0	1	7	32
MUT:CDK10:Leu151Pro	PROT:Q15131	CDK10	L	151	P	L151P	Pathogenic	1	1	7	53
MUT:CDK10:Leu154Pro	PROT:Q15131	CDK10	L	154	P	L154P	Pathogenic	1	1	7	50
MUT:CDK10:Lys174Asn	PROT:Q15131	CDK10	K	174	N	K174N	Likely benign	0	1	7	30
MUT:CDK10:Thr242Ser	PROT:Q15131	CDK10	T	242	S	T242S	Likely pathogenic	1	1	7	38
MUT:CDK20:Arg158Cys	PROT:Q8IZL9	CDK20	R	158	C	R158C	Likely benign	0	1	4	29
MUT:CDK20:Arg179Cys	PROT:Q8IZL9	CDK20	R	179	C	R179C	Likely benign	0	1	4	50
MUT:CDK20:Lys281Arg	PROT:Q8IZL9	CDK20	K	281	R	K281R	Benign	0	4	4	0
MUT:CDK5:Arg50Gln	PROT:Q00535	CDK5	R	50	Q	R50Q	Likely pathogenic	1	2	23	3
MUT:CDK5RAP2:Ala1358Val	PROT:Q96SN8	CDK5RAP2	A	1358	V	A1358V	Likely benign	0	1	91	8
MUT:CDK5RAP2:Ala1774Val	PROT:Q96SN8	CDK5RAP2	A	1774	V	A1774V	Likely benign	0	1	91	4
MUT:CDK5RAP2:Ala772Val	PROT:Q96SN8	CDK5RAP2	A	772	V	A772V	Likely benign	0	1	91	17
MUT:CDK5RAP2:Arg1045Thr	PROT:Q96SN8	CDK5RAP2	R	1045	T	R1045T	Benign/Likely benign	0	1	91	8
MUT:CDK5RAP2:Arg1607Ser	PROT:Q96SN8	CDK5RAP2	R	1607	S	R1607S	Benign/Likely benign	0	1	91	41
MUT:CDK5RAP2:Arg1711His	PROT:Q96SN8	CDK5RAP2	R	1711	H	R1711H	Likely benign	0	1	91	11
MUT:CDK5RAP2:Arg437His	PROT:Q96SN8	CDK5RAP2	R	437	H	R437H	Likely benign	0	1	91	29
MUT:CDK5RAP2:Arg908Gln	PROT:Q96SN8	CDK5RAP2	R	908	Q	R908Q	Likely benign	0	1	91	22
MUT:CDK5RAP2:Arg953His	PROT:Q96SN8	CDK5RAP2	R	953	H	R953H	Likely benign	0	1	91	6
MUT:CDK5RAP2:Asp820Gly	PROT:Q96SN8	CDK5RAP2	D	820	G	D820G	Likely benign	0	1	91	21
MUT:CDK5RAP2:Gln1555His	PROT:Q96SN8	CDK5RAP2	Q	1555	H	Q1555H	Benign/Likely benign	0	1	91	7
MUT:CDK5RAP2:Glu1532Lys	PROT:Q96SN8	CDK5RAP2	E	1532	K	E1532K	Likely benign	0	1	91	30
MUT:CDK5RAP2:Glu1765Asp	PROT:Q96SN8	CDK5RAP2	E	1765	D	E1765D	Likely benign	0	1	91	4
MUT:CDK5RAP2:Glu243Lys	PROT:Q96SN8	CDK5RAP2	E	243	K	E243K	Likely benign	0	1	91	2
MUT:CDK5RAP2:Glu289Gln	PROT:Q96SN8	CDK5RAP2	E	289	Q	E289Q	Benign	0	1	91	15
MUT:CDK5RAP2:Glu362Lys	PROT:Q96SN8	CDK5RAP2	E	362	K	E362K	Likely benign	0	1	91	5
MUT:CDK5RAP2:Glu49Lys	PROT:Q96SN8	CDK5RAP2	E	49	K	E49K	Likely benign	0	1	91	12
MUT:CDK5RAP2:Gly1022Glu	PROT:Q96SN8	CDK5RAP2	G	1022	E	G1022E	Benign	0	1	91	2
MUT:CDK5RAP2:Ile1818Met	PROT:Q96SN8	CDK5RAP2	I	1818	M	I1818M	Benign	0	4	91	4
MUT:CDK5RAP2:Ile899Thr	PROT:Q96SN8	CDK5RAP2	I	899	T	I899T	Likely benign	0	1	91	13
MUT:CDK5RAP2:Leu571Pro	PROT:Q96SN8	CDK5RAP2	L	571	P	L571P	Benign/Likely benign	0	1	91	2
MUT:CDK5RAP2:Leu84Phe	PROT:Q96SN8	CDK5RAP2	L	84	F	L84F	Pathogenic	1	1	91	13
MUT:CDK5RAP2:Lys656Asn	PROT:Q96SN8	CDK5RAP2	K	656	N	K656N	Likely pathogenic	1	1	91	9
MUT:CDK5RAP2:Lys755Asn	PROT:Q96SN8	CDK5RAP2	K	755	N	K755N	Likely benign	0	1	91	0
MUT:CDK5RAP2:Pro45Ser	PROT:Q96SN8	CDK5RAP2	P	45	S	P45S	Likely benign	0	1	91	16
MUT:CDK5RAP2:Pro765Arg	PROT:Q96SN8	CDK5RAP2	P	765	R	P765R	Benign/Likely benign	0	1	91	10
MUT:CDK5RAP2:Ser1083Arg	PROT:Q96SN8	CDK5RAP2	S	1083	R	S1083R	Likely benign	0	1	91	0
MUT:CDK5RAP2:Ser1782Asn	PROT:Q96SN8	CDK5RAP2	S	1782	N	S1782N	Likely benign	0	1	91	4
MUT:CDK5RAP2:Ser374Leu	PROT:Q96SN8	CDK5RAP2	S	374	L	S374L	Likely benign	0	1	91	2
MUT:CDK5RAP2:Thr1005Met	PROT:Q96SN8	CDK5RAP2	T	1005	M	T1005M	Likely benign	0	1	91	1
MUT:CDK5RAP2:Val1540Leu	PROT:Q96SN8	CDK5RAP2	V	1540	L	V1540L	Benign	0	1	91	22
MUT:CDK5RAP2:Val491Met	PROT:Q96SN8	CDK5RAP2	V	491	M	V491M	Likely benign	0	1	91	2
MUT:CDK8:Ala188Gly	PROT:P49336	CDK8	A	188	G	A188G	Likely pathogenic	1	2	6	69
MUT:CDK8:Arg178Gln	PROT:P49336	CDK8	R	178	Q	R178Q	Pathogenic	1	1	6	59
MUT:CDK8:Arg29Gly	PROT:P49336	CDK8	R	29	G	R29G	Pathogenic	1	1	6	3
MUT:CDK8:Arg71Gln	PROT:P49336	CDK8	R	71	Q	R71Q	Likely benign	0	1	6	3
MUT:CDK8:Asp173His	PROT:P49336	CDK8	D	173	H	D173H	Likely pathogenic	1	1	6	54
MUT:CDK8:Asp338Glu	PROT:P49336	CDK8	D	338	E	D338E	Likely benign	0	1	6	16
MUT:CDK8:Gly30Ser	PROT:P49336	CDK8	G	30	S	G30S	Pathogenic	1	1	6	4
MUT:CDK8:Gly30Val	PROT:P49336	CDK8	G	30	V	G30V	Likely pathogenic	1	1	6	4
MUT:CDK8:His34Pro	PROT:P49336	CDK8	H	34	P	H34P	Likely pathogenic	1	1	6	8
MUT:CDK8:Ile223Met	PROT:P49336	CDK8	I	223	M	I223M	Pathogenic	1	1	6	49
MUT:CDK8:Met160Thr	PROT:P49336	CDK8	M	160	T	M160T	Likely pathogenic	1	1	6	41
MUT:CDK8:Ser62Leu	PROT:P49336	CDK8	S	62	L	S62L	Pathogenic	1	2	6	0
MUT:CDK8:Ser62Trp	PROT:P49336	CDK8	S	62	W	S62W	Likely pathogenic	1	1	6	0
MUT:CDK8:Thr196Ile	PROT:P49336	CDK8	T	196	I	T196I	Likely pathogenic	1	1	6	76
MUT:CDK8:Thr196Ser	PROT:P49336	CDK8	T	196	S	T196S	Likely pathogenic	1	1	6	76
MUT:CDK8:Val193Gly	PROT:P49336	CDK8	V	193	G	V193G	Pathogenic	1	1	6	74
MUT:CDKN1A:Ser31Arg	PROT:P38936	CDKN1A	S	31	R	S31R	Benign	0	1	10	19
MUT:CDKN1C:Ala165Leu	PROT:P49918	CDKN1C	A	165	L	A165L	Likely benign	0	1	7	103
MUT:CDKN1C:Ala165Pro	PROT:P49918	CDKN1C	A	165	P	A165P	Likely benign	0	1	7	103
MUT:CDKN1C:Ala213Thr	PROT:P49918	CDKN1C	A	213	T	A213T	Likely benign	0	1	7	55
MUT:CDKN1C:Arg268Leu	PROT:P49918	CDKN1C	R	268	L	R268L	Pathogenic	1	3	7	0
MUT:CDKN1C:Arg268Pro	PROT:P49918	CDKN1C	R	268	P	R268P	Pathogenic	1	1	7	0
MUT:CDKN1C:Arg268Ser	PROT:P49918	CDKN1C	R	268	S	R268S	Likely pathogenic	1	2	7	0
MUT:CDKN1C:Asp263Asn	PROT:P49918	CDKN1C	D	263	N	D263N	Pathogenic	1	2	7	5
MUT:CDKN1C:Gln215Glu	PROT:P49918	CDKN1C	Q	215	E	Q215E	Likely benign	0	1	7	53
MUT:CDKN1C:Leu31Pro	PROT:P49918	CDKN1C	L	31	P	L31P	Pathogenic	1	1	7	12
MUT:CDKN1C:Lys267Glu	PROT:P49918	CDKN1C	K	267	E	K267E	Pathogenic	1	1	7	1
MUT:CDKN1C:Phe23Ser	PROT:P49918	CDKN1C	F	23	S	F23S	Likely pathogenic	1	1	7	20
MUT:CDKN1C:Phe265Ser	PROT:P49918	CDKN1C	F	265	S	F265S	Likely pathogenic	1	1	7	3
MUT:CDKN1C:Phe265Val	PROT:P49918	CDKN1C	F	265	V	F265V	Pathogenic	1	1	7	3
MUT:CDKN1C:Pro107Leu	PROT:P49918	CDKN1C	P	107	L	P107L	Benign/Likely benign	0	2	7	64
MUT:CDKN1C:Pro59Leu	PROT:P49918	CDKN1C	P	59	L	P59L	Pathogenic/Likely pathogenic	1	1	7	16
MUT:CDKN2C:Ala77Glu	PROT:P42773	CDKN2C	A	77	E	A77E	Likely pathogenic	1	1	1	59
MUT:CELA2A:Asp121Asn	PROT:P08217	CELA2A	D	121	N	D121N	Pathogenic	1	1	1	41
MUT:CELA2A:Leu85Met	PROT:P08217	CELA2A	L	85	M	L85M	Likely pathogenic	1	1	1	5
MUT:CELA2A:Thr70Met	PROT:P08217	CELA2A	T	70	M	T70M	Pathogenic	1	2	1	10
MUT:CELF4:Val338Met	PROT:Q9BZC1	CELF4	V	338	M	V338M	Benign	0	1	1	207
MUT:CELSR2:Ala384Ser	PROT:Q9HCU4	CELSR2	A	384	S	A384S	Benign	0	1	4	297
MUT:CELSR2:Arg1066Gln	PROT:Q9HCU4	CELSR2	R	1066	Q	R1066Q	Benign	0	1	4	375
MUT:CELSR2:Arg2015Lys	PROT:Q9HCU4	CELSR2	R	2015	K	R2015K	Benign	0	1	4	641
MUT:CELSR2:Arg2191His	PROT:Q9HCU4	CELSR2	R	2191	H	R2191H	Likely benign	0	1	4	465
MUT:CELSR2:Arg2626Cys	PROT:Q9HCU4	CELSR2	R	2626	C	R2626C	Likely benign	0	1	4	30
MUT:CELSR2:Arg2812Trp	PROT:Q9HCU4	CELSR2	R	2812	W	R2812W	Likely benign	0	1	4	25
MUT:CELSR2:Arg91Lys	PROT:Q9HCU4	CELSR2	R	91	K	R91K	Benign	0	2	4	590
MUT:CELSR2:Asn953Ser	PROT:Q9HCU4	CELSR2	N	953	S	N953S	Likely pathogenic	1	1	4	262
MUT:CELSR2:Asp1579Val	PROT:Q9HCU4	CELSR2	D	1579	V	D1579V	Likely benign	0	1	4	888
MUT:CELSR2:Gln126Lys	PROT:Q9HCU4	CELSR2	Q	126	K	Q126K	Likely benign	0	1	4	555
MUT:CELSR2:Gly2805Arg	PROT:Q9HCU4	CELSR2	G	2805	R	G2805R	Benign	0	1	4	18
MUT:CELSR2:Leu1932Val	PROT:Q9HCU4	CELSR2	L	1932	V	L1932V	Likely benign	0	1	4	724
MUT:CELSR2:Pro1750Ser	PROT:Q9HCU4	CELSR2	P	1750	S	P1750S	Likely benign	0	1	4	906
MUT:CELSR2:Ser2329Asn	PROT:Q9HCU4	CELSR2	S	2329	N	S2329N	Benign	0	1	4	327
MUT:CELSR2:Thr695Met	PROT:Q9HCU4	CELSR2	T	695	M	T695M	Benign	0	1	4	4
MUT:CELSR2:Tyr1639His	PROT:Q9HCU4	CELSR2	Y	1639	H	Y1639H	Benign	0	1	4	948
MUT:CELSR2:Val598Met	PROT:Q9HCU4	CELSR2	V	598	M	V598M	Benign	0	1	4	83
MUT:CELSR3:Ala2792Val	PROT:Q9NYQ7	CELSR3	A	2792	V	A2792V	Likely benign	0	1	13	2
MUT:CELSR3:Ala3133Thr	PROT:Q9NYQ7	CELSR3	A	3133	T	A3133T	Likely benign	0	1	13	7
MUT:CELSR3:Arg1048Trp	PROT:Q9NYQ7	CELSR3	R	1048	W	R1048W	Likely pathogenic	1	1	13	783
MUT:CELSR3:Arg3033His	PROT:Q9NYQ7	CELSR3	R	3033	H	R3033H	Benign	0	2	13	18
MUT:CELSR3:Arg3150Gln	PROT:Q9NYQ7	CELSR3	R	3150	Q	R3150Q	Likely benign	0	1	13	10
MUT:CELSR3:Arg3160Cys	PROT:Q9NYQ7	CELSR3	R	3160	C	R3160C	Likely benign	0	1	13	15
MUT:CELSR3:Arg3189Gln	PROT:Q9NYQ7	CELSR3	R	3189	Q	R3189Q	Benign	0	3	13	14
MUT:CELSR3:Arg753Trp	PROT:Q9NYQ7	CELSR3	R	753	W	R753W	Likely benign	0	1	13	488
MUT:CELSR3:Glu1034Gln	PROT:Q9NYQ7	CELSR3	E	1034	Q	E1034Q	Likely pathogenic	1	1	13	769
MUT:CELSR3:Gly128Val	PROT:Q9NYQ7	CELSR3	G	128	V	G128V	Benign	0	3	13	137
MUT:CELSR3:Met2630Ile	PROT:Q9NYQ7	CELSR3	M	2630	I	M2630I	Benign	0	1	13	153
MUT:CELSR3:Pro170Leu	PROT:Q9NYQ7	CELSR3	P	170	L	P170L	Likely benign	0	1	13	95
MUT:CELSR3:Pro2990Arg	PROT:Q9NYQ7	CELSR3	P	2990	R	P2990R	Benign	0	1	13	61
MUT:CELSR3:Pro3276Leu	PROT:Q9NYQ7	CELSR3	P	3276	L	P3276L	Benign	0	1	13	67
MUT:CELSR3:Ser805Thr	PROT:Q9NYQ7	CELSR3	S	805	T	S805T	Benign	0	1	13	540
MUT:CELSR3:Thr654Met	PROT:Q9NYQ7	CELSR3	T	654	M	T654M	Benign	0	1	13	389
MUT:CEMIP:Ala463Thr	PROT:Q8WUJ3	CEMIP	A	463	T	A463T	Likely benign	0	1	4	115
MUT:CEMIP:His1209Tyr	PROT:Q8WUJ3	CEMIP	H	1209	Y	H1209Y	Benign/Likely benign	0	1	4	128
MUT:CEMIP:Leu411Val	PROT:Q8WUJ3	CEMIP	L	411	V	L411V	Benign/Likely benign	0	1	4	63
MUT:CEMIP:Val323Met	PROT:Q8WUJ3	CEMIP	V	323	M	V323M	Benign	0	1	4	10
MUT:CENPE:Ala969Val	PROT:Q02224	CENPE	A	969	V	A969V	Pathogenic	1	1	38	13
MUT:CENPE:Arg967Gln	PROT:Q02224	CENPE	R	967	Q	R967Q	Likely benign	0	1	38	15
MUT:CENPE:Asn391Tyr	PROT:Q02224	CENPE	N	391	Y	N391Y	Likely benign	0	2	38	2
MUT:CENPE:Glu1925Asp	PROT:Q02224	CENPE	E	1925	D	E1925D	Benign	0	1	38	158
MUT:CENPE:Glu604Val	PROT:Q02224	CENPE	E	604	V	E604V	Likely benign	0	1	38	2
MUT:CENPE:Lys1480Glu	PROT:Q02224	CENPE	K	1480	E	K1480E	Likely benign	0	1	38	111
MUT:CENPE:Phe2303Ile	PROT:Q02224	CENPE	F	2303	I	F2303I	Likely benign	0	1	38	47
MUT:CENPE:Ser2325Cys	PROT:Q02224	CENPE	S	2325	C	S2325C	Benign/Likely benign	0	1	38	25
MUT:CENPE:Thr2090Met	PROT:Q02224	CENPE	T	2090	M	T2090M	Benign	0	1	38	7
MUT:CENPE:Val924Leu	PROT:Q02224	CENPE	V	924	L	V924L	Likely benign	0	1	38	23
MUT:CENPI:Arg166His	PROT:Q92674	CENPI	R	166	H	R166H	Likely benign	0	1	16	55
MUT:CENPN:Arg60Cys	PROT:Q96H22	CENPN	R	60	C	R60C	Likely benign	0	1	10	15
MUT:CENPP:Arg168Gln	PROT:Q6IPU0	CENPP	R	168	Q	R168Q	Likely benign	0	1	5	73
MUT:CENPP:Arg213Trp	PROT:Q6IPU0	CENPP	R	213	W	R213W	Likely benign	0	1	5	28
MUT:CENPP:Thr72Met	PROT:Q6IPU0	CENPP	T	72	M	T72M	Likely benign	0	1	5	11
MUT:CEP104:Ala164Ser	PROT:O60308	CEP104	A	164	S	A164S	Benign/Likely benign	0	6	5	59
MUT:CEP104:Ala188Thr	PROT:O60308	CEP104	A	188	T	A188T	Likely benign	0	1	5	49
MUT:CEP104:Ala686Val	PROT:O60308	CEP104	A	686	V	A686V	Benign	0	1	5	24
MUT:CEP104:Arg656Cys	PROT:O60308	CEP104	R	656	C	R656C	Benign/Likely benign	0	1	5	54
MUT:CEP104:Arg683Gln	PROT:O60308	CEP104	R	683	Q	R683Q	Likely benign	0	1	5	27
MUT:CEP104:Glu184Asp	PROT:O60308	CEP104	E	184	D	E184D	Benign/Likely benign	0	2	5	53
MUT:CEP104:Glu288Gln	PROT:O60308	CEP104	E	288	Q	E288Q	Likely benign	0	1	5	26
MUT:CEP104:Glu857Lys	PROT:O60308	CEP104	E	857	K	E857K	Benign/Likely benign	0	2	5	4
MUT:CEP104:Gly704Glu	PROT:O60308	CEP104	G	704	E	G704E	Benign/Likely benign	0	1	5	6
MUT:CEP104:Gly734Arg	PROT:O60308	CEP104	G	734	R	G734R	Likely benign	0	1	5	24
MUT:CEP104:Gly855Glu	PROT:O60308	CEP104	G	855	E	G855E	Benign/Likely benign	0	2	5	2
MUT:CEP104:His390Arg	PROT:O60308	CEP104	H	390	R	H390R	Benign/Likely benign	0	2	5	76
MUT:CEP104:Ile139Thr	PROT:O60308	CEP104	I	139	T	I139T	Benign/Likely benign	0	2	5	34
MUT:CEP104:Ile632Val	PROT:O60308	CEP104	I	632	V	I632V	Likely benign	0	1	5	78
MUT:CEP104:Leu414Ile	PROT:O60308	CEP104	L	414	I	L414I	Benign	0	1	5	100
MUT:CEP104:Pro745Leu	PROT:O60308	CEP104	P	745	L	P745L	Benign/Likely benign	0	1	5	35
MUT:CEP104:Thr438Asn	PROT:O60308	CEP104	T	438	N	T438N	Benign	0	1	5	124
MUT:CEP104:Thr447Met	PROT:O60308	CEP104	T	447	M	T447M	Benign/Likely benign	0	1	5	133
MUT:CEP104:Thr535Ala	PROT:O60308	CEP104	T	535	A	T535A	Likely benign	0	1	5	175
MUT:CEP104:Val532Ile	PROT:O60308	CEP104	V	532	I	V532I	Likely benign	0	1	5	178
MUT:CEP104:Val546Ile	PROT:O60308	CEP104	V	546	I	V546I	Benign	0	2	5	164
MUT:CEP250:Ala1130Val	PROT:Q9BV73	CEP250	A	1130	V	A1130V	Likely benign	0	1	55	18
MUT:CEP250:Ala1933Glu	PROT:Q9BV73	CEP250	A	1933	E	A1933E	Benign	0	1	55	6
MUT:CEP250:Ala1933Val	PROT:Q9BV73	CEP250	A	1933	V	A1933V	Likely benign	0	1	55	6
MUT:CEP250:Ala334Val	PROT:Q9BV73	CEP250	A	334	V	A334V	Likely benign	0	1	55	4
MUT:CEP250:Arg1857His	PROT:Q9BV73	CEP250	R	1857	H	R1857H	Benign/Likely benign	0	1	55	60
MUT:CEP250:Arg1992Cys	PROT:Q9BV73	CEP250	R	1992	C	R1992C	Likely benign	0	1	55	12
MUT:CEP250:Arg2204Gln	PROT:Q9BV73	CEP250	R	2204	Q	R2204Q	Benign	0	1	55	55
MUT:CEP250:Arg284Gln	PROT:Q9BV73	CEP250	R	284	Q	R284Q	Likely benign	0	2	55	20
MUT:CEP250:Arg866His	PROT:Q9BV73	CEP250	R	866	H	R866H	Likely benign	0	1	55	26
MUT:CEP250:Glu1833Lys	PROT:Q9BV73	CEP250	E	1833	K	E1833K	Likely benign	0	1	55	36
MUT:CEP250:His2053Tyr	PROT:Q9BV73	CEP250	H	2053	Y	H2053Y	Benign	0	1	55	42
MUT:CEP250:Lys925Asn	PROT:Q9BV73	CEP250	K	925	N	K925N	Likely benign	0	1	55	31
MUT:CEP250:Thr118Ile	PROT:Q9BV73	CEP250	T	118	I	T118I	Benign	0	1	55	14
MUT:CEP290:Arg1237His	PROT:O15078	CEP290	R	1237	H	R1237H	Benign	0	6	50	28
MUT:CEP290:Arg1752Gln	PROT:O15078	CEP290	R	1752	Q	R1752Q	Likely benign	0	2	50	36
MUT:CEP290:Arg1752Trp	PROT:O15078	CEP290	R	1752	W	R1752W	Pathogenic/Likely pathogenic	1	4	50	36
MUT:CEP290:Arg1926Pro	PROT:O15078	CEP290	R	1926	P	R1926P	Pathogenic/Likely pathogenic	1	6	50	20
MUT:CEP290:Arg259Ser	PROT:O15078	CEP290	R	259	S	R259S	Likely benign	0	1	50	68
MUT:CEP290:Asn4Thr	PROT:O15078	CEP290	N	4	T	N4T	Likely benign	0	1	50	181
MUT:CEP290:Asp1593Asn	PROT:O15078	CEP290	D	1593	N	D1593N	Likely benign	0	1	50	5
MUT:CEP290:Asp664Gly	PROT:O15078	CEP290	D	664	G	D664G	Benign	0	8	50	24
MUT:CEP290:Gln819Leu	PROT:O15078	CEP290	Q	819	L	Q819L	Likely pathogenic	1	1	50	11
MUT:CEP290:Glu1568Asp	PROT:O15078	CEP290	E	1568	D	E1568D	Likely pathogenic	1	1	50	16
MUT:CEP290:Glu1572Lys	PROT:O15078	CEP290	E	1572	K	E1572K	Pathogenic/Likely pathogenic	1	2	50	20
MUT:CEP290:Glu1841Lys	PROT:O15078	CEP290	E	1841	K	E1841K	Benign/Likely benign	0	1	50	53
MUT:CEP290:Glu277Gln	PROT:O15078	CEP290	E	277	Q	E277Q	Benign/Likely benign	0	7	50	71
MUT:CEP290:His50Tyr	PROT:O15078	CEP290	H	50	Y	H50Y	Pathogenic/Likely pathogenic	1	2	50	135
MUT:CEP290:Ile1442Met	PROT:O15078	CEP290	I	1442	M	I1442M	Likely benign	0	1	50	75
MUT:CEP290:Ile1668Thr	PROT:O15078	CEP290	I	1668	T	I1668T	Likely benign	0	1	50	23
MUT:CEP290:Ile2269Thr	PROT:O15078	CEP290	I	2269	T	I2269T	Benign/Likely benign	0	3	50	69
MUT:CEP290:Ile5Thr	PROT:O15078	CEP290	I	5	T	I5T	Likely pathogenic	1	1	50	180
MUT:CEP290:Ile943Val	PROT:O15078	CEP290	I	943	V	I943V	Benign/Likely benign	0	6	50	8
MUT:CEP290:Leu805Pro	PROT:O15078	CEP290	L	805	P	L805P	Pathogenic/Likely pathogenic	1	4	50	25
MUT:CEP290:Leu906Trp	PROT:O15078	CEP290	L	906	W	L906W	Benign	0	6	50	11
MUT:CEP290:Lys838Glu	PROT:O15078	CEP290	K	838	E	K838E	Benign	0	8	50	8
MUT:CEP290:Met1Ile	PROT:O15078	CEP290	M	1	I	M1I	Pathogenic/Likely pathogenic	1	1	50	184
MUT:CEP290:Met1Lys	PROT:O15078	CEP290	M	1	K	M1K	Pathogenic/Likely pathogenic	1	3	50	184
MUT:CEP290:Met1Val	PROT:O15078	CEP290	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	50	184
MUT:CEP290:Thr1512Ala	PROT:O15078	CEP290	T	1512	A	T1512A	Likely benign	0	1	50	5
MUT:CEP290:Thr902Ala	PROT:O15078	CEP290	T	902	A	T902A	Likely benign	0	1	50	7
MUT:CEP290:Trp7Cys	PROT:O15078	CEP290	W	7	C	W7C	Pathogenic	1	3	50	178
MUT:CEP290:Tyr2002Cys	PROT:O15078	CEP290	Y	2002	C	Y2002C	Likely benign	0	2	50	11
MUT:CEP290:Val1791Ile	PROT:O15078	CEP290	V	1791	I	V1791I	Likely benign	0	1	50	3
MUT:CEP290:Val1892Leu	PROT:O15078	CEP290	V	1892	L	V1892L	Pathogenic	1	1	50	14
MUT:CEP41:Ala98Thr	PROT:Q9BYV8	CEP41	A	98	T	A98T	Likely benign	0	1	9	1
MUT:CEP41:Asp227Asn	PROT:Q9BYV8	CEP41	D	227	N	D227N	Likely benign	0	1	9	85
MUT:CEP41:Cys240Gly	PROT:Q9BYV8	CEP41	C	240	G	C240G	Benign/Likely benign	0	1	9	72
MUT:CEP41:Phe125Leu	PROT:Q9BYV8	CEP41	F	125	L	F125L	Likely benign	0	1	9	4
MUT:CEP41:Ser201Cys	PROT:Q9BYV8	CEP41	S	201	C	S201C	Likely pathogenic	1	1	9	80
MUT:CEP41:Ser355Arg	PROT:Q9BYV8	CEP41	S	355	R	S355R	Likely benign	0	1	9	8
MUT:CEP55:Ala135Thr	PROT:Q53EZ4	CEP55	A	135	T	A135T	Likely benign	0	1	31	6
MUT:CEP55:Arg150His	PROT:Q53EZ4	CEP55	R	150	H	R150H	Likely benign	0	1	31	5
MUT:CEP55:Arg348Lys	PROT:Q53EZ4	CEP55	R	348	K	R348K	Benign	0	7	31	7
MUT:CEP55:Cys236Arg	PROT:Q53EZ4	CEP55	C	236	R	C236R	Benign	0	1	31	1
MUT:CEP55:Glu321Lys	PROT:Q53EZ4	CEP55	E	321	K	E321K	Likely benign	0	1	31	4
MUT:CEP55:Gly227Asp	PROT:Q53EZ4	CEP55	G	227	D	G227D	Benign	0	1	31	5
MUT:CEP55:His214Arg	PROT:Q53EZ4	CEP55	H	214	R	H214R	Benign	0	1	31	1
MUT:CEP55:His378Leu	PROT:Q53EZ4	CEP55	H	378	L	H378L	Benign	0	2	31	20
MUT:CEP55:His57Gln	PROT:Q53EZ4	CEP55	H	57	Q	H57Q	Benign	0	1	31	28
MUT:CEP55:Tyr284Cys	PROT:Q53EZ4	CEP55	Y	284	C	Y284C	Likely benign	0	1	31	10
MUT:CEP76:Arg568Pro	PROT:Q8TAP6	CEP76	R	568	P	R568P	Likely pathogenic	1	1	6	31
MUT:CEP76:Arg625His	PROT:Q8TAP6	CEP76	R	625	H	R625H	Likely pathogenic	1	1	6	88
MUT:CEP76:Cys478Arg	PROT:Q8TAP6	CEP76	C	478	R	C478R	Likely pathogenic	1	1	6	11
MUT:CEP76:Gly203Arg	PROT:Q8TAP6	CEP76	G	203	R	G203R	Benign	0	1	6	118
MUT:CEP76:Leu166Pro	PROT:Q8TAP6	CEP76	L	166	P	L166P	Likely pathogenic	1	1	6	81
MUT:CEP76:Pro103Ser	PROT:Q8TAP6	CEP76	P	103	S	P103S	Pathogenic	1	1	6	18
MUT:CEP76:Ser172Asn	PROT:Q8TAP6	CEP76	S	172	N	S172N	Benign	0	1	6	87
MUT:CEP76:Val24Asp	PROT:Q8TAP6	CEP76	V	24	D	V24D	Likely pathogenic	1	1	6	58
MUT:CEP83:Ala146Val	PROT:Q9Y592	CEP83	A	146	V	A146V	Benign	0	1	3	35
MUT:CEP83:Arg209Gln	PROT:Q9Y592	CEP83	R	209	Q	R209Q	Benign	0	1	3	18
MUT:CEP83:Arg276Trp	PROT:Q9Y592	CEP83	R	276	W	R276W	Benign	0	1	3	85
MUT:CEP83:Arg279Cys	PROT:Q9Y592	CEP83	R	279	C	R279C	Likely benign	0	1	3	88
MUT:CEP83:Arg511Pro	PROT:Q9Y592	CEP83	R	511	P	R511P	Pathogenic	1	1	3	42
MUT:CEP83:Arg545His	PROT:Q9Y592	CEP83	R	545	H	R545H	Likely benign	0	2	3	8
MUT:CEP83:Arg630Gln	PROT:Q9Y592	CEP83	R	630	Q	R630Q	Likely benign	0	1	3	77
MUT:CEP83:Arg679His	PROT:Q9Y592	CEP83	R	679	H	R679H	Likely benign	0	1	3	126
MUT:CEP83:Asp470Gly	PROT:Q9Y592	CEP83	D	470	G	D470G	Likely benign	0	1	3	83
MUT:CEP83:Asp491Glu	PROT:Q9Y592	CEP83	D	491	E	D491E	Likely benign	0	1	3	62
MUT:CEP83:Gly176Glu	PROT:Q9Y592	CEP83	G	176	E	G176E	Likely benign	0	1	3	15
MUT:CEP83:Leu675Pro	PROT:Q9Y592	CEP83	L	675	P	L675P	Likely pathogenic	1	1	3	122
MUT:CEP83:Ser476Ile	PROT:Q9Y592	CEP83	S	476	I	S476I	Likely benign	0	2	3	77
MUT:CEP85L:Ala109Thr	PROT:Q5SZL2	CEP85L	A	109	T	A109T	Likely benign	0	1	11	4
MUT:CEP85L:Ala7Val	PROT:Q5SZL2	CEP85L	A	7	V	A7V	Benign	0	1	11	106
MUT:CEP85L:Arg222Trp	PROT:Q5SZL2	CEP85L	R	222	W	R222W	Likely benign	0	1	11	32
MUT:CEP85L:Arg332Gln	PROT:Q5SZL2	CEP85L	R	332	Q	R332Q	Likely benign	0	1	11	19
MUT:CEP85L:Arg347His	PROT:Q5SZL2	CEP85L	R	347	H	R347H	Likely benign	0	1	11	4
MUT:CEP85L:Arg380Trp	PROT:Q5SZL2	CEP85L	R	380	W	R380W	Likely benign	0	1	11	2
MUT:CEP85L:Arg398Trp	PROT:Q5SZL2	CEP85L	R	398	W	R398W	Likely benign	0	1	11	16
MUT:CEP85L:Asp65Asn	PROT:Q5SZL2	CEP85L	D	65	N	D65N	Likely pathogenic	1	2	11	48
MUT:CEP85L:Gln141Glu	PROT:Q5SZL2	CEP85L	Q	141	E	Q141E	Likely benign	0	1	11	20
MUT:CEP85L:Gly69Arg	PROT:Q5SZL2	CEP85L	G	69	R	G69R	Likely pathogenic	1	1	11	44
MUT:CEP85L:His387Arg	PROT:Q5SZL2	CEP85L	H	387	R	H387R	Likely benign	0	1	11	5
MUT:CEP85L:Ile186Thr	PROT:Q5SZL2	CEP85L	I	186	T	I186T	Likely benign	0	1	11	1
MUT:CEP85L:Ile68Thr	PROT:Q5SZL2	CEP85L	I	68	T	I68T	Pathogenic/Likely pathogenic	1	2	11	45
MUT:CEP85L:Ile783Val	PROT:Q5SZL2	CEP85L	I	783	V	I783V	Likely benign	0	1	11	43
MUT:CEP85L:Lys220Thr	PROT:Q5SZL2	CEP85L	K	220	T	K220T	Likely benign	0	1	11	30
MUT:CEP85L:Lys276Glu	PROT:Q5SZL2	CEP85L	K	276	E	K276E	Likely benign	0	1	11	75
MUT:CEP85L:Met1Ile	PROT:Q5SZL2	CEP85L	M	1	I	M1I	Pathogenic	1	1	11	112
MUT:CEP85L:Met1Leu	PROT:Q5SZL2	CEP85L	M	1	L	M1L	Likely pathogenic	1	1	11	112
MUT:CEP85L:Met1Thr	PROT:Q5SZL2	CEP85L	M	1	T	M1T	Pathogenic	1	2	11	112
MUT:CEP85L:Met339Val	PROT:Q5SZL2	CEP85L	M	339	V	M339V	Likely benign	0	1	11	12
MUT:CEP85L:Pro251Thr	PROT:Q5SZL2	CEP85L	P	251	T	P251T	Benign	0	1	11	61
MUT:CEP85L:Ser137Gly	PROT:Q5SZL2	CEP85L	S	137	G	S137G	Benign	0	1	11	24
MUT:CEP85L:Ser432Ala	PROT:Q5SZL2	CEP85L	S	432	A	S432A	Likely benign	0	1	11	21
MUT:CEP85L:Ser58Cys	PROT:Q5SZL2	CEP85L	S	58	C	S58C	Likely pathogenic	1	1	11	55
MUT:CEP85L:Ser63Arg	PROT:Q5SZL2	CEP85L	S	63	R	S63R	Likely pathogenic	1	1	11	50
MUT:CEP85L:Val252Ile	PROT:Q5SZL2	CEP85L	V	252	I	V252I	Likely benign	0	1	11	62
MUT:CEP85L:Val436Ile	PROT:Q5SZL2	CEP85L	V	436	I	V436I	Likely benign	0	1	11	17
MUT:CES1:Gly143Glu	PROT:P23141	CES1	G	143	E	G143E	Pathogenic	1	1	1	237
MUT:CETP:Ala15Gly	PROT:P11597	CETP	A	15	G	A15G	Benign	0	1	1	385
MUT:CETP:Ala390Pro	PROT:P11597	CETP	A	390	P	A390P	Benign	0	1	1	10
MUT:CETP:Arg154Trp	PROT:P11597	CETP	R	154	W	R154W	Benign/Likely benign	0	1	1	246
MUT:CETP:Arg468Gln	PROT:P11597	CETP	R	468	Q	R468Q	Benign	0	1	1	68
MUT:CETP:Asp156Asn	PROT:P11597	CETP	D	156	N	D156N	Likely benign	0	1	1	244
MUT:CETP:Gly331Ser	PROT:P11597	CETP	G	331	S	G331S	Benign/Likely benign	0	2	1	69
MUT:CETP:Ser221Arg	PROT:P11597	CETP	S	221	R	S221R	Benign/Likely benign	0	1	1	179
MUT:CETP:Ser349Tyr	PROT:P11597	CETP	S	349	Y	S349Y	Benign/Likely benign	0	1	1	51
MUT:CETP:Val385Met	PROT:P11597	CETP	V	385	M	V385M	Benign/Likely benign	0	2	1	15
MUT:CETP:Val422Ile	PROT:P11597	CETP	V	422	I	V422I	Benign	0	3	1	22
MUT:CFAP221:Arg516Gln	PROT:Q4G0U5	CFAP221	R	516	Q	R516Q	Likely benign	0	1	2	89
MUT:CFAP251:Arg188Trp	PROT:Q8TBY9	CFAP251	R	188	W	R188W	Likely benign	0	1	4	31
MUT:CFAP251:Arg860Cys	PROT:Q8TBY9	CFAP251	R	860	C	R860C	Likely benign	0	1	4	191
MUT:CFAP251:Leu445Phe	PROT:Q8TBY9	CFAP251	L	445	F	L445F	Benign	0	4	4	226
MUT:CFAP251:Leu650Phe	PROT:Q8TBY9	CFAP251	L	650	F	L650F	Benign	0	1	4	401
MUT:CFAP251:Lys1038Asn	PROT:Q8TBY9	CFAP251	K	1038	N	K1038N	Likely benign	0	1	4	13
MUT:CFAP251:Phe940Leu	PROT:Q8TBY9	CFAP251	F	940	L	F940L	Benign	0	1	4	111
MUT:CFAP251:Val870Leu	PROT:Q8TBY9	CFAP251	V	870	L	V870L	Benign	0	4	4	181
MUT:CFAP298:Ala103Asp	PROT:P57076	CFAP298	A	103	D	A103D	Pathogenic	1	1	9	17
MUT:CFAP298:Val208Met	PROT:P57076	CFAP298	V	208	M	V208M	Benign/Likely benign	0	1	9	2
MUT:CFAP410:Ala167Thr	PROT:O43822	CFAP410	A	167	T	A167T	Likely benign	0	1	7	10
MUT:CFAP410:Arg73Pro	PROT:O43822	CFAP410	R	73	P	R73P	Pathogenic/Likely pathogenic	1	7	7	3
MUT:CFAP410:Asp176Glu	PROT:O43822	CFAP410	D	176	E	D176E	Likely benign	0	1	7	1
MUT:CFAP410:Glu169Lys	PROT:O43822	CFAP410	E	169	K	E169K	Likely benign	0	1	7	8
MUT:CFAP410:Glu96Lys	PROT:O43822	CFAP410	E	96	K	E96K	Pathogenic/Likely pathogenic	1	1	7	6
MUT:CFAP410:Gly154Ser	PROT:O43822	CFAP410	G	154	S	G154S	Benign/Likely benign	0	1	7	23
MUT:CFAP410:Leu224Pro	PROT:O43822	CFAP410	L	224	P	L224P	Pathogenic	1	1	7	47
MUT:CFAP410:Leu64Gln	PROT:O43822	CFAP410	L	64	Q	L64Q	Likely pathogenic	1	1	7	4
MUT:CFAP410:Met1Val	PROT:O43822	CFAP410	M	1	V	M1V	Benign	0	1	7	67
MUT:CFAP410:Pro116Leu	PROT:O43822	CFAP410	P	116	L	P116L	Pathogenic/Likely pathogenic	1	2	7	4
MUT:CFAP410:Ser208Leu	PROT:O43822	CFAP410	S	208	L	S208L	Benign	0	1	7	31
MUT:CFAP410:Tyr107Cys	PROT:O43822	CFAP410	Y	107	C	Y107C	Pathogenic	1	1	7	4
MUT:CFAP410:Tyr107His	PROT:O43822	CFAP410	Y	107	H	Y107H	Pathogenic	1	2	7	4
MUT:CFAP410:Val111Met	PROT:O43822	CFAP410	V	111	M	V111M	Pathogenic	1	2	7	8
MUT:CFAP418:Arg131His	PROT:Q96NL8	CFAP418	R	131	H	R131H	Likely benign	0	1	3	35
MUT:CFAP418:Arg177Trp	PROT:Q96NL8	CFAP418	R	177	W	R177W	Pathogenic/Likely pathogenic	1	5	3	81
MUT:CFAP418:Gln182Arg	PROT:Q96NL8	CFAP418	Q	182	R	Q182R	Pathogenic	1	2	3	86
MUT:CFAP418:Met146Leu	PROT:Q96NL8	CFAP418	M	146	L	M146L	Likely benign	0	1	3	50
MUT:CFAP418:Pro19Ala	PROT:Q96NL8	CFAP418	P	19	A	P19A	Benign/Likely benign	0	3	3	1
MUT:CFAP52:Ala153Val	PROT:Q8N1V2	CFAP52	A	153	V	A153V	Likely benign	0	1	2	128
MUT:CFAP52:Arg538Thr	PROT:Q8N1V2	CFAP52	R	538	T	R538T	Likely benign	0	1	2	241
MUT:CFAP52:Glu336Lys	PROT:Q8N1V2	CFAP52	E	336	K	E336K	Benign	0	1	2	39
MUT:CFAP52:Ile72Val	PROT:Q8N1V2	CFAP52	I	72	V	I72V	Likely benign	0	1	2	209
MUT:CFAP52:Thr591Ile	PROT:Q8N1V2	CFAP52	T	591	I	T591I	Likely benign	0	1	2	294
MUT:CFAP58:Asn398Ser	PROT:Q5T655	CFAP58	N	398	S	N398S	Likely benign	0	1	2	345
MUT:CFAP65:Phe1718Cys	PROT:Q6ZU64	CFAP65	F	1718	C	F1718C	Likely benign	0	1	2	551
MUT:CFAP65:Pro695Ser	PROT:Q6ZU64	CFAP65	P	695	S	P695S	Likely benign	0	1	2	472
MUT:CFAP74:Arg218Trp	PROT:Q9C0B2	CFAP74	R	218	W	R218W	Pathogenic	1	1	2	136
MUT:CFAP74:Arg365Gln	PROT:Q9C0B2	CFAP74	R	365	Q	R365Q	Likely benign	0	1	2	126
MUT:CFAP74:Arg818Trp	PROT:Q9C0B2	CFAP74	R	818	W	R818W	Likely pathogenic	1	1	2	327
MUT:CFAP74:Asp1178Asn	PROT:Q9C0B2	CFAP74	D	1178	N	D1178N	Pathogenic	1	1	2	687
MUT:CFAP74:Glu204Asp	PROT:Q9C0B2	CFAP74	E	204	D	E204D	Likely benign	0	1	2	122
MUT:CFAP74:Gly328Asp	PROT:Q9C0B2	CFAP74	G	328	D	G328D	Pathogenic	1	1	2	163
MUT:CFAP74:Ser1444Thr	PROT:Q9C0B2	CFAP74	S	1444	T	S1444T	Pathogenic	1	1	2	953
MUT:CFAP74:Val1015Ala	PROT:Q9C0B2	CFAP74	V	1015	A	V1015A	Likely pathogenic	1	1	2	524
MUT:CFD:Glu69Lys	PROT:P00746	CFD	E	69	K	E69K	Benign/Likely benign	0	1	1	30
MUT:CFD:Gly203Arg	PROT:P00746	CFD	G	203	R	G203R	Pathogenic	1	1	1	104
MUT:CFD:Ser126Leu	PROT:P00746	CFD	S	126	L	S126L	Pathogenic	1	3	1	27
MUT:CFDP1:Ala60Thr	PROT:Q9UEE9	CFDP1	A	60	T	A60T	Likely benign	0	1	8	151
MUT:CFDP1:Ser10Pro	PROT:Q9UEE9	CFDP1	S	10	P	S10P	Likely benign	0	1	8	201
MUT:CFH:Arg1182Trp	PROT:P08603	CFH	R	1182	W	R1182W	Likely pathogenic	1	1	5	11
MUT:CFH:Arg1215Gly	PROT:P08603	CFH	R	1215	G	R1215G	Pathogenic	1	2	5	19
MUT:CFH:Arg1215Leu	PROT:P08603	CFH	R	1215	L	R1215L	Likely pathogenic	1	1	5	19
MUT:CFH:Arg127Leu	PROT:P08603	CFH	R	127	L	R127L	Likely pathogenic	1	1	5	284
MUT:CFH:Arg53Cys	PROT:P08603	CFH	R	53	C	R53C	Pathogenic/Likely pathogenic	1	2	5	358
MUT:CFH:Arg53Ser	PROT:P08603	CFH	R	53	S	R53S	Likely pathogenic	1	1	5	358
MUT:CFH:Asn1050Tyr	PROT:P08603	CFH	N	1050	Y	N1050Y	Benign/Likely benign	0	23	5	120
MUT:CFH:Asp195Asn	PROT:P08603	CFH	D	195	N	D195N	Likely benign	0	1	5	216
MUT:CFH:Cys1163Trp	PROT:P08603	CFH	C	1163	W	C1163W	Likely pathogenic	1	1	5	7
MUT:CFH:Cys192Phe	PROT:P08603	CFH	C	192	F	C192F	Likely pathogenic	1	1	5	219
MUT:CFH:Cys210Phe	PROT:P08603	CFH	C	210	F	C210F	Likely pathogenic	1	1	5	201
MUT:CFH:Cys385Phe	PROT:P08603	CFH	C	385	F	C385F	Likely pathogenic	1	1	5	26
MUT:CFH:Cys870Tyr	PROT:P08603	CFH	C	870	Y	C870Y	Likely pathogenic	1	1	5	300
MUT:CFH:Cys931Leu	PROT:P08603	CFH	C	931	L	C931L	Likely pathogenic	1	1	5	239
MUT:CFH:Gln1143Glu	PROT:P08603	CFH	Q	1143	E	Q1143E	Benign	0	5	5	27
MUT:CFH:Gln81Arg	PROT:P08603	CFH	Q	81	R	Q81R	Likely benign	0	1	5	330
MUT:CFH:Glu1198Lys	PROT:P08603	CFH	E	1198	K	E1198K	Likely pathogenic	1	1	5	2
MUT:CFH:Glu1198Val	PROT:P08603	CFH	E	1198	V	E1198V	Likely pathogenic	1	1	5	2
MUT:CFH:Glu936Asp	PROT:P08603	CFH	E	936	D	E936D	Benign/Likely benign	0	6	5	234
MUT:CFH:Ile1059Thr	PROT:P08603	CFH	I	1059	T	I1059T	Benign/Likely benign	0	6	5	111
MUT:CFH:Ile551Thr	PROT:P08603	CFH	I	551	T	I551T	Benign/Likely benign	0	6	5	124
MUT:CFH:Leu1181Ser	PROT:P08603	CFH	L	1181	S	L1181S	Likely pathogenic	1	1	5	11
MUT:CFH:Phe1199Leu	PROT:P08603	CFH	F	1199	L	F1199L	Likely pathogenic	1	1	5	3
MUT:CFH:Pro88Thr	PROT:P08603	CFH	P	88	T	P88T	Likely pathogenic	1	1	5	323
MUT:CFH:Ser1069Pro	PROT:P08603	CFH	S	1069	P	S1069P	Likely benign	0	1	5	101
MUT:CFH:Ser1191Leu	PROT:P08603	CFH	S	1191	L	S1191L	Pathogenic/Likely pathogenic	1	4	5	2
MUT:CFH:Ser193Leu	PROT:P08603	CFH	S	193	L	S193L	Likely pathogenic	1	1	5	218
MUT:CFH:Ser890Ile	PROT:P08603	CFH	S	890	I	S890I	Benign/Likely benign	0	6	5	280
MUT:CFH:Thr1017Ile	PROT:P08603	CFH	T	1017	I	T1017I	Benign/Likely benign	0	6	5	153
MUT:CFH:Trp1183Leu	PROT:P08603	CFH	W	1183	L	W1183L	Pathogenic/Likely pathogenic	1	1	5	10
MUT:CFH:Tyr1058His	PROT:P08603	CFH	Y	1058	H	Y1058H	Benign/Likely benign	0	5	5	112
MUT:CFH:Val1007Leu	PROT:P08603	CFH	V	1007	L	V1007L	Benign/Likely benign	0	6	5	163
MUT:CFH:Val1060Leu	PROT:P08603	CFH	V	1060	L	V1060L	Benign/Likely benign	0	5	5	110
MUT:CFH:Val349Ile	PROT:P08603	CFH	V	349	I	V349I	Likely benign	0	1	5	62
MUT:CFH:Val62Ile	PROT:P08603	CFH	V	62	I	V62I	Benign/Likely benign	0	6	5	349
MUT:CFH:Val837Ile	PROT:P08603	CFH	V	837	I	V837I	Benign/Likely benign	0	5	5	333
MUT:CFH:Val941Phe	PROT:P08603	CFH	V	941	F	V941F	Benign/Likely benign	0	4	5	229
MUT:CFHR2:Cys72Tyr	PROT:P36980	CFHR2	C	72	Y	C72Y	Benign/Likely benign	0	1	2	73
MUT:CFHR2:Thr109Ala	PROT:P36980	CFHR2	T	109	A	T109A	Benign/Likely benign	0	1	2	36
MUT:CFHR2:Thr71Met	PROT:P36980	CFHR2	T	71	M	T71M	Likely benign	0	1	2	74
MUT:CFHR2:Tyr264Cys	PROT:P36980	CFHR2	Y	264	C	Y264C	Likely benign	0	1	2	54
MUT:CFI:Ala258Thr	PROT:P05156	CFI	A	258	T	A258T	Pathogenic/Likely pathogenic	1	3	2	163
MUT:CFI:Arg201Ser	PROT:P05156	CFI	R	201	S	R201S	Benign/Likely benign	0	2	2	111
MUT:CFI:Arg406His	PROT:P05156	CFI	R	406	H	R406H	Benign	0	3	2	15
MUT:CFI:Asp164Val	PROT:P05156	CFI	D	164	V	D164V	Likely pathogenic	1	1	2	74
MUT:CFI:Asp524Val	PROT:P05156	CFI	D	524	V	D524V	Pathogenic	1	2	2	103
MUT:CFI:Cys229Arg	PROT:P05156	CFI	C	229	R	C229R	Likely pathogenic	1	1	2	139
MUT:CFI:Cys247Gly	PROT:P05156	CFI	C	247	G	C247G	Pathogenic	1	1	2	157
MUT:CFI:Cys266Arg	PROT:P05156	CFI	C	266	R	C266R	Likely pathogenic	1	1	2	155
MUT:CFI:Cys284Gly	PROT:P05156	CFI	C	284	G	C284G	Likely pathogenic	1	1	2	137
MUT:CFI:Cys327Arg	PROT:P05156	CFI	C	327	R	C327R	Likely pathogenic	1	1	2	94
MUT:CFI:Cys373Ser	PROT:P05156	CFI	C	373	S	C373S	Likely pathogenic	1	1	2	48
MUT:CFI:Gln462His	PROT:P05156	CFI	Q	462	H	Q462H	Likely benign	0	1	2	41
MUT:CFI:Gly243Asp	PROT:P05156	CFI	G	243	D	G243D	Pathogenic	1	1	2	153
MUT:CFI:Gly261Asp	PROT:P05156	CFI	G	261	D	G261D	Benign/Likely benign	0	4	2	160
MUT:CFI:Gly328Arg	PROT:P05156	CFI	G	328	R	G328R	Likely pathogenic	1	1	2	93
MUT:CFI:Gly349Arg	PROT:P05156	CFI	G	349	R	G349R	Pathogenic	1	1	2	72
MUT:CFI:Gly71Val	PROT:P05156	CFI	G	71	V	G71V	Likely pathogenic	1	1	2	19
MUT:CFI:His183Arg	PROT:P05156	CFI	H	183	R	H183R	Benign/Likely benign	0	1	2	93
MUT:CFI:His380Arg	PROT:P05156	CFI	H	380	R	H380R	Pathogenic/Likely pathogenic	1	2	2	41
MUT:CFI:Ile306Val	PROT:P05156	CFI	I	306	V	I306V	Benign/Likely benign	0	2	2	115
MUT:CFI:Ile370Asn	PROT:P05156	CFI	I	370	N	I370N	Likely pathogenic	1	1	2	51
MUT:CFI:Ile433Val	PROT:P05156	CFI	I	433	V	I433V	Likely pathogenic	1	1	2	12
MUT:CFI:Lys522Thr	PROT:P05156	CFI	K	522	T	K522T	Likely pathogenic	1	1	2	101
MUT:CFI:Met138Ile	PROT:P05156	CFI	M	138	I	M138I	Likely benign	0	1	2	48
MUT:CFI:Met147Ile	PROT:P05156	CFI	M	147	I	M147I	Likely benign	0	1	2	57
MUT:CFI:Pro402Ser	PROT:P05156	CFI	P	402	S	P402S	Likely pathogenic	1	1	2	19
MUT:CFI:Pro553Ser	PROT:P05156	CFI	P	553	S	P553S	Benign/Likely benign	0	2	2	132
MUT:CFI:Ser496Phe	PROT:P05156	CFI	S	496	F	S496F	Likely pathogenic	1	1	2	75
MUT:CFI:Ser90Asn	PROT:P05156	CFI	S	90	N	S90N	Likely pathogenic	1	1	2	0
MUT:CFI:Thr107Ala	PROT:P05156	CFI	T	107	A	T107A	Benign/Likely benign	0	2	2	17
MUT:CFI:Thr300Ala	PROT:P05156	CFI	T	300	A	T300A	Benign	0	1	2	121
MUT:CFI:Trp456Leu	PROT:P05156	CFI	W	456	L	W456L	Likely pathogenic	1	1	2	35
MUT:CFI:Val230Glu	PROT:P05156	CFI	V	230	E	V230E	Likely pathogenic	1	1	2	140
MUT:CFI:Val544Met	PROT:P05156	CFI	V	544	M	V544M	Likely pathogenic	1	1	2	123
MUT:CFL2:Ala35Thr	PROT:Q9Y281	CFL2	A	35	T	A35T	Pathogenic	1	1	11	9
MUT:CFTR:Ala1006Glu	PROT:P13569	CFTR	A	1006	E	A1006E	Pathogenic	1	2	41	8
MUT:CFTR:Ala1009Ser	PROT:P13569	CFTR	A	1009	S	A1009S	Likely benign	0	2	41	5
MUT:CFTR:Ala1067Pro	PROT:P13569	CFTR	A	1067	P	A1067P	Likely pathogenic	1	1	41	22
MUT:CFTR:Ala107Gly	PROT:P13569	CFTR	A	107	G	A107G	Likely pathogenic	1	1	41	13
MUT:CFTR:Ala1087Pro	PROT:P13569	CFTR	A	1087	P	A1087P	Likely pathogenic	1	1	41	42
MUT:CFTR:Ala455Glu	PROT:P13569	CFTR	A	455	E	A455E	Pathogenic	1	4	41	28
MUT:CFTR:Ala46Asp	PROT:P13569	CFTR	A	46	D	A46D	Pathogenic	1	1	41	1
MUT:CFTR:Ala559Pro	PROT:P13569	CFTR	A	559	P	A559P	Pathogenic/Likely pathogenic	1	2	41	10
MUT:CFTR:Ala559Thr	PROT:P13569	CFTR	A	559	T	A559T	Pathogenic	1	3	41	10
MUT:CFTR:Ala561Glu	PROT:P13569	CFTR	A	561	E	A561E	Pathogenic	1	3	41	12
MUT:CFTR:Ala613Thr	PROT:P13569	CFTR	A	613	T	A613T	Pathogenic	1	3	41	8
MUT:CFTR:Ala72Asp	PROT:P13569	CFTR	A	72	D	A72D	Likely pathogenic	1	1	41	22
MUT:CFTR:Ala763Gly	PROT:P13569	CFTR	A	763	G	A763G	Likely benign	0	1	41	5
MUT:CFTR:Ala872Glu	PROT:P13569	CFTR	A	872	E	A872E	Likely pathogenic	1	1	41	56
MUT:CFTR:Ala923Asp	PROT:P13569	CFTR	A	923	D	A923D	Likely pathogenic	1	1	41	91
MUT:CFTR:Arg1066Cys	PROT:P13569	CFTR	R	1066	C	R1066C	Pathogenic	1	3	41	21
MUT:CFTR:Arg1066His	PROT:P13569	CFTR	R	1066	H	R1066H	Pathogenic	1	3	41	21
MUT:CFTR:Arg1066Leu	PROT:P13569	CFTR	R	1066	L	R1066L	Pathogenic/Likely pathogenic	1	1	41	21
MUT:CFTR:Arg1066Ser	PROT:P13569	CFTR	R	1066	S	R1066S	Likely pathogenic	1	1	41	21
MUT:CFTR:Arg1070Pro	PROT:P13569	CFTR	R	1070	P	R1070P	Likely pathogenic	1	1	41	25
MUT:CFTR:Arg117Gly	PROT:P13569	CFTR	R	117	G	R117G	Pathogenic/Likely pathogenic	1	3	41	23
MUT:CFTR:Arg117His	PROT:P13569	CFTR	R	117	H	R117H	Pathogenic	1	8	41	23
MUT:CFTR:Arg117Leu	PROT:P13569	CFTR	R	117	L	R117L	Pathogenic/Likely pathogenic	1	3	41	23
MUT:CFTR:Arg117Pro	PROT:P13569	CFTR	R	117	P	R117P	Pathogenic	1	2	41	23
MUT:CFTR:Arg1283Met	PROT:P13569	CFTR	R	1283	M	R1283M	Pathogenic	1	2	41	79
MUT:CFTR:Arg1283Ser	PROT:P13569	CFTR	R	1283	S	R1283S	Likely pathogenic	1	2	41	79
MUT:CFTR:Arg334Leu	PROT:P13569	CFTR	R	334	L	R334L	Pathogenic	1	3	41	43
MUT:CFTR:Arg334Trp	PROT:P13569	CFTR	R	334	W	R334W	Pathogenic	1	3	41	43
MUT:CFTR:Arg347His	PROT:P13569	CFTR	R	347	H	R347H	Pathogenic	1	3	41	56
MUT:CFTR:Arg347Leu	PROT:P13569	CFTR	R	347	L	R347L	Pathogenic/Likely pathogenic	1	4	41	56
MUT:CFTR:Arg347Pro	PROT:P13569	CFTR	R	347	P	R347P	Pathogenic	1	3	41	56
MUT:CFTR:Arg560Lys	PROT:P13569	CFTR	R	560	K	R560K	Pathogenic	1	3	41	11
MUT:CFTR:Arg560Ser	PROT:P13569	CFTR	R	560	S	R560S	Pathogenic	1	1	41	11
MUT:CFTR:Arg560Thr	PROT:P13569	CFTR	R	560	T	R560T	Pathogenic	1	4	41	11
MUT:CFTR:Asn1303His	PROT:P13569	CFTR	N	1303	H	N1303H	Pathogenic	1	1	41	59
MUT:CFTR:Asn1303Ile	PROT:P13569	CFTR	N	1303	I	N1303I	Pathogenic/Likely pathogenic	1	3	41	59
MUT:CFTR:Asn1303Lys	PROT:P13569	CFTR	N	1303	K	N1303K	Pathogenic	1	6	41	59
MUT:CFTR:Asn1303Tyr	PROT:P13569	CFTR	N	1303	Y	N1303Y	Likely pathogenic	1	1	41	59
MUT:CFTR:Asn417Ser	PROT:P13569	CFTR	N	417	S	N417S	Likely benign	0	1	41	4
MUT:CFTR:Asn900Lys	PROT:P13569	CFTR	N	900	K	N900K	Pathogenic	1	1	41	84
MUT:CFTR:Asp110Asn	PROT:P13569	CFTR	D	110	N	D110N	Likely pathogenic	1	2	41	16
MUT:CFTR:Asp1270Val	PROT:P13569	CFTR	D	1270	V	D1270V	Likely pathogenic	1	1	41	92
MUT:CFTR:Asp192Gly	PROT:P13569	CFTR	D	192	G	D192G	Pathogenic	1	2	41	64
MUT:CFTR:Asp192Tyr	PROT:P13569	CFTR	D	192	Y	D192Y	Likely pathogenic	1	1	41	64
MUT:CFTR:Asp44Gly	PROT:P13569	CFTR	D	44	G	D44G	Pathogenic	1	1	41	1
MUT:CFTR:Asp513Gly	PROT:P13569	CFTR	D	513	G	D513G	Pathogenic	1	3	41	1
MUT:CFTR:Asp572Asn	PROT:P13569	CFTR	D	572	N	D572N	Likely pathogenic	1	2	41	10
MUT:CFTR:Asp579His	PROT:P13569	CFTR	D	579	H	D579H	Likely pathogenic	1	1	41	3
MUT:CFTR:Asp58Asn	PROT:P13569	CFTR	D	58	N	D58N	Likely pathogenic	1	2	41	8
MUT:CFTR:Asp614Gly	PROT:P13569	CFTR	D	614	G	D614G	Pathogenic/Likely pathogenic	1	3	41	9
MUT:CFTR:Asp648Val	PROT:P13569	CFTR	D	648	V	D648V	Pathogenic	1	1	41	7
MUT:CFTR:Asp979Val	PROT:P13569	CFTR	D	979	V	D979V	Pathogenic	1	1	41	35
MUT:CFTR:Cys491Gly	PROT:P13569	CFTR	C	491	G	C491G	Likely pathogenic	1	1	41	20
MUT:CFTR:Gln1071Pro	PROT:P13569	CFTR	Q	1071	P	Q1071P	Likely pathogenic	1	2	41	26
MUT:CFTR:Gln1100Pro	PROT:P13569	CFTR	Q	1100	P	Q1100P	Pathogenic/Likely pathogenic	1	3	41	55
MUT:CFTR:Gln1291His	PROT:P13569	CFTR	Q	1291	H	Q1291H	Pathogenic/Likely pathogenic	1	3	41	71
MUT:CFTR:Gln1463Lys	PROT:P13569	CFTR	Q	1463	K	Q1463K	Likely benign	0	1	41	7
MUT:CFTR:Gln237Glu	PROT:P13569	CFTR	Q	237	E	Q237E	Pathogenic/Likely pathogenic	1	3	41	19
MUT:CFTR:Gln372His	PROT:P13569	CFTR	Q	372	H	Q372H	Likely pathogenic	1	1	41	49
MUT:CFTR:Gln493Arg	PROT:P13569	CFTR	Q	493	R	Q493R	Likely pathogenic	1	2	41	18
MUT:CFTR:Gln525Pro	PROT:P13569	CFTR	Q	525	P	Q525P	Likely pathogenic	1	1	41	8
MUT:CFTR:Gln552Pro	PROT:P13569	CFTR	Q	552	P	Q552P	Likely pathogenic	1	1	41	3
MUT:CFTR:Gln98Arg	PROT:P13569	CFTR	Q	98	R	Q98R	Pathogenic	1	3	41	4
MUT:CFTR:Glu1104Lys	PROT:P13569	CFTR	E	1104	K	E1104K	Likely pathogenic	1	1	41	59
MUT:CFTR:Glu116Lys	PROT:P13569	CFTR	E	116	K	E116K	Pathogenic	1	2	41	22
MUT:CFTR:Glu403Asp	PROT:P13569	CFTR	E	403	D	E403D	Pathogenic	1	1	41	18
MUT:CFTR:Glu474Lys	PROT:P13569	CFTR	E	474	K	E474K	Pathogenic	1	1	41	37
MUT:CFTR:Glu476Asp	PROT:P13569	CFTR	E	476	D	E476D	Likely pathogenic	1	1	41	35
MUT:CFTR:Glu479Gln	PROT:P13569	CFTR	E	479	Q	E479Q	Likely pathogenic	1	1	41	32
MUT:CFTR:Glu60Gly	PROT:P13569	CFTR	E	60	G	E60G	Likely pathogenic	1	1	41	10
MUT:CFTR:Glu60Lys	PROT:P13569	CFTR	E	60	K	E60K	Pathogenic	1	3	41	10
MUT:CFTR:Glu822Lys	PROT:P13569	CFTR	E	822	K	E822K	Likely pathogenic	1	1	41	6
MUT:CFTR:Glu92Lys	PROT:P13569	CFTR	E	92	K	E92K	Pathogenic	1	3	41	2
MUT:CFTR:Gly1061Arg	PROT:P13569	CFTR	G	1061	R	G1061R	Pathogenic	1	3	41	16
MUT:CFTR:Gly1123Arg	PROT:P13569	CFTR	G	1123	R	G1123R	Likely pathogenic	1	2	41	53
MUT:CFTR:Gly1244Arg	PROT:P13569	CFTR	G	1244	R	G1244R	Pathogenic	1	1	41	68
MUT:CFTR:Gly1244Val	PROT:P13569	CFTR	G	1244	V	G1244V	Likely pathogenic	1	1	41	68
MUT:CFTR:Gly1247Arg	PROT:P13569	CFTR	G	1247	R	G1247R	Likely pathogenic	1	2	41	71
MUT:CFTR:Gly1249Arg	PROT:P13569	CFTR	G	1249	R	G1249R	Pathogenic	1	2	41	73
MUT:CFTR:Gly124Arg	PROT:P13569	CFTR	G	124	R	G124R	Likely pathogenic	1	1	41	30
MUT:CFTR:Gly126Asp	PROT:P13569	CFTR	G	126	D	G126D	Pathogenic	1	3	41	32
MUT:CFTR:Gly1333Trp	PROT:P13569	CFTR	G	1333	W	G1333W	Likely pathogenic	1	1	41	29
MUT:CFTR:Gly149Arg	PROT:P13569	CFTR	G	149	R	G149R	Pathogenic	1	1	41	55
MUT:CFTR:Gly194Arg	PROT:P13569	CFTR	G	194	R	G194R	Pathogenic	1	3	41	62
MUT:CFTR:Gly27Arg	PROT:P13569	CFTR	G	27	R	G27R	Pathogenic	1	2	41	18
MUT:CFTR:Gly27Glu	PROT:P13569	CFTR	G	27	E	G27E	Likely pathogenic	1	2	41	18
MUT:CFTR:Gly314Arg	PROT:P13569	CFTR	G	314	R	G314R	Pathogenic/Likely pathogenic	1	1	41	23
MUT:CFTR:Gly458Glu	PROT:P13569	CFTR	G	458	E	G458E	Likely pathogenic	1	1	41	31
MUT:CFTR:Gly458Val	PROT:P13569	CFTR	G	458	V	G458V	Likely pathogenic	1	1	41	31
MUT:CFTR:Gly461Arg	PROT:P13569	CFTR	G	461	R	G461R	Likely pathogenic	1	1	41	34
MUT:CFTR:Gly461Val	PROT:P13569	CFTR	G	461	V	G461V	Likely pathogenic	1	1	41	34
MUT:CFTR:Gly480Asp	PROT:P13569	CFTR	G	480	D	G480D	Pathogenic/Likely pathogenic	1	3	41	31
MUT:CFTR:Gly480Cys	PROT:P13569	CFTR	G	480	C	G480C	Pathogenic/Likely pathogenic	1	3	41	31
MUT:CFTR:Gly509Arg	PROT:P13569	CFTR	G	509	R	G509R	Likely pathogenic	1	1	41	2
MUT:CFTR:Gly509Asp	PROT:P13569	CFTR	G	509	D	G509D	Likely pathogenic	1	1	41	2
MUT:CFTR:Gly509Val	PROT:P13569	CFTR	G	509	V	G509V	Likely pathogenic	1	1	41	2
MUT:CFTR:Gly551Asp	PROT:P13569	CFTR	G	551	D	G551D	Pathogenic	1	5	41	2
MUT:CFTR:Gly551Val	PROT:P13569	CFTR	G	551	V	G551V	Likely pathogenic	1	1	41	2
MUT:CFTR:Gly628Ala	PROT:P13569	CFTR	G	628	A	G628A	Pathogenic/Likely pathogenic	1	2	41	13
MUT:CFTR:Gly628Arg	PROT:P13569	CFTR	G	628	R	G628R	Pathogenic	1	2	41	13
MUT:CFTR:Gly85Glu	PROT:P13569	CFTR	G	85	E	G85E	Pathogenic	1	4	41	9
MUT:CFTR:Gly85Val	PROT:P13569	CFTR	G	85	V	G85V	Pathogenic	1	2	41	9
MUT:CFTR:Gly91Arg	PROT:P13569	CFTR	G	91	R	G91R	Pathogenic	1	3	41	3
MUT:CFTR:Gly970Arg	PROT:P13569	CFTR	G	970	R	G970R	Pathogenic	1	2	41	44
MUT:CFTR:Gly970Asp	PROT:P13569	CFTR	G	970	D	G970D	Pathogenic	1	3	41	44
MUT:CFTR:His1054Asp	PROT:P13569	CFTR	H	1054	D	H1054D	Pathogenic	1	3	41	9
MUT:CFTR:His1085Arg	PROT:P13569	CFTR	H	1085	R	H1085R	Pathogenic/Likely pathogenic	1	1	41	40
MUT:CFTR:His1375Pro	PROT:P13569	CFTR	H	1375	P	H1375P	Pathogenic	1	2	41	13
MUT:CFTR:His139Arg	PROT:P13569	CFTR	H	139	R	H139R	Pathogenic	1	3	41	45
MUT:CFTR:His139Leu	PROT:P13569	CFTR	H	139	L	H139L	Pathogenic/Likely pathogenic	1	3	41	45
MUT:CFTR:His199Arg	PROT:P13569	CFTR	H	199	R	H199R	Pathogenic	1	2	41	57
MUT:CFTR:His199Gln	PROT:P13569	CFTR	H	199	Q	H199Q	Likely pathogenic	1	2	41	57
MUT:CFTR:His199Tyr	PROT:P13569	CFTR	H	199	Y	H199Y	Pathogenic	1	2	41	57
MUT:CFTR:His609Arg	PROT:P13569	CFTR	H	609	R	H609R	Pathogenic	1	3	41	4
MUT:CFTR:His620Pro	PROT:P13569	CFTR	H	620	P	H620P	Likely pathogenic	1	2	41	15
MUT:CFTR:Ile1005Arg	PROT:P13569	CFTR	I	1005	R	I1005R	Pathogenic/Likely pathogenic	1	3	41	9
MUT:CFTR:Ile1023Arg	PROT:P13569	CFTR	I	1023	R	I1023R	Pathogenic/Likely pathogenic	1	3	41	9
MUT:CFTR:Ile105Asn	PROT:P13569	CFTR	I	105	N	I105N	Pathogenic/Likely pathogenic	1	2	41	11
MUT:CFTR:Ile1234Val	PROT:P13569	CFTR	I	1234	V	I1234V	Pathogenic	1	3	41	58
MUT:CFTR:Ile1269Asn	PROT:P13569	CFTR	I	1269	N	I1269N	Pathogenic	1	1	41	93
MUT:CFTR:Ile1366Asn	PROT:P13569	CFTR	I	1366	N	I1366N	Pathogenic	1	2	41	4
MUT:CFTR:Ile1427Thr	PROT:P13569	CFTR	I	1427	T	I1427T	Likely pathogenic	1	1	41	17
MUT:CFTR:Ile175Val	PROT:P13569	CFTR	I	175	V	I175V	Pathogenic/Likely pathogenic	1	3	41	81
MUT:CFTR:Ile336Lys	PROT:P13569	CFTR	I	336	K	I336K	Pathogenic	1	3	41	45
MUT:CFTR:Ile471Ser	PROT:P13569	CFTR	I	471	S	I471S	Likely pathogenic	1	1	41	40
MUT:CFTR:Ile471Val	PROT:P13569	CFTR	I	471	V	I471V	Likely pathogenic	1	1	41	40
MUT:CFTR:Ile497Asn	PROT:P13569	CFTR	I	497	N	I497N	Likely pathogenic	1	1	41	14
MUT:CFTR:Ile502Ser	PROT:P13569	CFTR	I	502	S	I502S	Likely pathogenic	1	1	41	9
MUT:CFTR:Ile502Thr	PROT:P13569	CFTR	I	502	T	I502T	Pathogenic	1	3	41	9
MUT:CFTR:Ile506Asn	PROT:P13569	CFTR	I	506	N	I506N	Likely pathogenic	1	1	41	5
MUT:CFTR:Ile507Phe	PROT:P13569	CFTR	I	507	F	I507F	Likely pathogenic	1	1	41	4
MUT:CFTR:Ile507Ser	PROT:P13569	CFTR	I	507	S	I507S	Likely pathogenic	1	1	41	4
MUT:CFTR:Ile507Val	PROT:P13569	CFTR	I	507	V	I507V	Benign/Likely benign	0	1	41	4
MUT:CFTR:Ile521Thr	PROT:P13569	CFTR	I	521	T	I521T	Likely pathogenic	1	1	41	4
MUT:CFTR:Ile556Val	PROT:P13569	CFTR	I	556	V	I556V	Benign/Likely benign	0	2	41	7
MUT:CFTR:Ile601Phe	PROT:P13569	CFTR	I	601	F	I601F	Pathogenic	1	2	41	3
MUT:CFTR:Ile601Thr	PROT:P13569	CFTR	I	601	T	I601T	Likely pathogenic	1	2	41	3
MUT:CFTR:Ile618Thr	PROT:P13569	CFTR	I	618	T	I618T	Pathogenic/Likely pathogenic	1	3	41	13
MUT:CFTR:Ile853Thr	PROT:P13569	CFTR	I	853	T	I853T	Likely pathogenic	1	1	41	37
MUT:CFTR:Ile869Val	PROT:P13569	CFTR	I	869	V	I869V	Likely benign	0	1	41	53
MUT:CFTR:Leu102Arg	PROT:P13569	CFTR	L	102	R	L102R	Pathogenic	1	2	41	8
MUT:CFTR:Leu102Pro	PROT:P13569	CFTR	L	102	P	L102P	Likely pathogenic	1	2	41	8
MUT:CFTR:Leu1065Arg	PROT:P13569	CFTR	L	1065	R	L1065R	Pathogenic/Likely pathogenic	1	2	41	20
MUT:CFTR:Leu1065Pro	PROT:P13569	CFTR	L	1065	P	L1065P	Pathogenic	1	2	41	20
MUT:CFTR:Leu1077Pro	PROT:P13569	CFTR	L	1077	P	L1077P	Pathogenic	1	3	41	32
MUT:CFTR:Leu1093Pro	PROT:P13569	CFTR	L	1093	P	L1093P	Likely pathogenic	1	2	41	48
MUT:CFTR:Leu1324Pro	PROT:P13569	CFTR	L	1324	P	L1324P	Pathogenic	1	2	41	38
MUT:CFTR:Leu1335Pro	PROT:P13569	CFTR	L	1335	P	L1335P	Pathogenic	1	3	41	27
MUT:CFTR:Leu145His	PROT:P13569	CFTR	L	145	H	L145H	Likely pathogenic	1	2	41	51
MUT:CFTR:Leu15Arg	PROT:P13569	CFTR	L	15	R	L15R	Likely pathogenic	1	1	41	30
MUT:CFTR:Leu15Pro	PROT:P13569	CFTR	L	15	P	L15P	Pathogenic	1	3	41	30
MUT:CFTR:Leu165Ser	PROT:P13569	CFTR	L	165	S	L165S	Pathogenic	1	2	41	71
MUT:CFTR:Leu227Arg	PROT:P13569	CFTR	L	227	R	L227R	Pathogenic	1	2	41	29
MUT:CFTR:Leu346Pro	PROT:P13569	CFTR	L	346	P	L346P	Pathogenic	1	2	41	55
MUT:CFTR:Leu375Phe	PROT:P13569	CFTR	L	375	F	L375F	Pathogenic/Likely pathogenic	1	3	41	46
MUT:CFTR:Leu453Ser	PROT:P13569	CFTR	L	453	S	L453S	Pathogenic	1	1	41	26
MUT:CFTR:Leu467Pro	PROT:P13569	CFTR	L	467	P	L467P	Pathogenic	1	3	41	40
MUT:CFTR:Leu558Ser	PROT:P13569	CFTR	L	558	S	L558S	Pathogenic	1	4	41	9
MUT:CFTR:Leu571Ser	PROT:P13569	CFTR	L	571	S	L571S	Pathogenic/Likely pathogenic	1	2	41	11
MUT:CFTR:Leu578Pro	PROT:P13569	CFTR	L	578	P	L578P	Likely pathogenic	1	1	41	4
MUT:CFTR:Leu69Arg	PROT:P13569	CFTR	L	69	R	L69R	Likely pathogenic	1	1	41	19
MUT:CFTR:Leu761Phe	PROT:P13569	CFTR	L	761	F	L761F	Likely benign	0	1	41	7
MUT:CFTR:Leu927Pro	PROT:P13569	CFTR	L	927	P	L927P	Pathogenic	1	2	41	87
MUT:CFTR:Lys162Glu	PROT:P13569	CFTR	K	162	E	K162E	Pathogenic/Likely pathogenic	1	2	41	68
MUT:CFTR:Lys163Glu	PROT:P13569	CFTR	K	163	E	K163E	Pathogenic	1	1	41	69
MUT:CFTR:Lys166Glu	PROT:P13569	CFTR	K	166	E	K166E	Likely pathogenic	1	2	41	72
MUT:CFTR:Lys464Asn	PROT:P13569	CFTR	K	464	N	K464N	Pathogenic/Likely pathogenic	1	4	41	37
MUT:CFTR:Lys464Glu	PROT:P13569	CFTR	K	464	E	K464E	Likely pathogenic	1	1	41	37
MUT:CFTR:Lys464Thr	PROT:P13569	CFTR	K	464	T	K464T	Likely pathogenic	1	1	41	37
MUT:CFTR:Lys483Glu	PROT:P13569	CFTR	K	483	E	K483E	Likely pathogenic	1	1	41	28
MUT:CFTR:Lys503Arg	PROT:P13569	CFTR	K	503	R	K503R	Likely pathogenic	1	1	41	8
MUT:CFTR:Met1101Arg	PROT:P13569	CFTR	M	1101	R	M1101R	Pathogenic	1	2	41	56
MUT:CFTR:Met1101Lys	PROT:P13569	CFTR	M	1101	K	M1101K	Pathogenic	1	3	41	56
MUT:CFTR:Met1137Arg	PROT:P13569	CFTR	M	1137	R	M1137R	Pathogenic/Likely pathogenic	1	2	41	39
MUT:CFTR:Met1140Lys	PROT:P13569	CFTR	M	1140	K	M1140K	Likely pathogenic	1	2	41	36
MUT:CFTR:Met152Val	PROT:P13569	CFTR	M	152	V	M152V	Pathogenic/Likely pathogenic	1	3	41	58
MUT:CFTR:Met1Arg	PROT:P13569	CFTR	M	1	R	M1R	Pathogenic/Likely pathogenic	1	2	41	44
MUT:CFTR:Met1Ile	PROT:P13569	CFTR	M	1	I	M1I	Pathogenic	1	1	41	44
MUT:CFTR:Met1Lys	PROT:P13569	CFTR	M	1	K	M1K	Pathogenic	1	1	41	44
MUT:CFTR:Met1Thr	PROT:P13569	CFTR	M	1	T	M1T	Pathogenic	1	2	41	44
MUT:CFTR:Met1Val	PROT:P13569	CFTR	M	1	V	M1V	Pathogenic	1	2	41	44
MUT:CFTR:Met469Val	PROT:P13569	CFTR	M	469	V	M469V	Pathogenic/Likely pathogenic	1	3	41	42
MUT:CFTR:Phe1078Ser	PROT:P13569	CFTR	F	1078	S	F1078S	Likely pathogenic	1	1	41	33
MUT:CFTR:Phe191Val	PROT:P13569	CFTR	F	191	V	F191V	Pathogenic	1	3	41	65
MUT:CFTR:Phe311Leu	PROT:P13569	CFTR	F	311	L	F311L	Pathogenic	1	4	41	20
MUT:CFTR:Phe490Val	PROT:P13569	CFTR	F	490	V	F490V	Likely pathogenic	1	1	41	21
MUT:CFTR:Phe587Ser	PROT:P13569	CFTR	F	587	S	F587S	Likely pathogenic	1	1	41	5
MUT:CFTR:Phe693Leu	PROT:P13569	CFTR	F	693	L	F693L	Likely benign	0	2	41	7
MUT:CFTR:Phe931Leu	PROT:P13569	CFTR	F	931	L	F931L	Likely benign	0	1	41	83
MUT:CFTR:Pro1021Leu	PROT:P13569	CFTR	P	1021	L	P1021L	Pathogenic/Likely pathogenic	1	2	41	7
MUT:CFTR:Pro1021Thr	PROT:P13569	CFTR	P	1021	T	P1021T	Likely pathogenic	1	2	41	7
MUT:CFTR:Pro111Ala	PROT:P13569	CFTR	P	111	A	P111A	Pathogenic/Likely pathogenic	1	2	41	17
MUT:CFTR:Pro1462Ser	PROT:P13569	CFTR	P	1462	S	P1462S	Likely benign	0	1	41	6
MUT:CFTR:Pro205Ser	PROT:P13569	CFTR	P	205	S	P205S	Pathogenic	1	3	41	51
MUT:CFTR:Pro205Thr	PROT:P13569	CFTR	P	205	T	P205T	Pathogenic/Likely pathogenic	1	2	41	51
MUT:CFTR:Pro574His	PROT:P13569	CFTR	P	574	H	P574H	Pathogenic	1	3	41	8
MUT:CFTR:Pro574Ser	PROT:P13569	CFTR	P	574	S	P574S	Pathogenic	1	1	41	8
MUT:CFTR:Pro5Leu	PROT:P13569	CFTR	P	5	L	P5L	Pathogenic/Likely pathogenic	1	3	41	40
MUT:CFTR:Pro67Ser	PROT:P13569	CFTR	P	67	S	P67S	Likely pathogenic	1	2	41	17
MUT:CFTR:Pro99Leu	PROT:P13569	CFTR	P	99	L	P99L	Pathogenic	1	2	41	5
MUT:CFTR:Ser1045Tyr	PROT:P13569	CFTR	S	1045	Y	S1045Y	Likely pathogenic	1	3	41	0
MUT:CFTR:Ser1118Phe	PROT:P13569	CFTR	S	1118	F	S1118F	Pathogenic	1	3	41	58
MUT:CFTR:Ser1159Phe	PROT:P13569	CFTR	S	1159	F	S1159F	Pathogenic	1	2	41	17
MUT:CFTR:Ser1159Pro	PROT:P13569	CFTR	S	1159	P	S1159P	Pathogenic	1	3	41	17
MUT:CFTR:Ser1311Asn	PROT:P13569	CFTR	S	1311	N	S1311N	Likely benign	0	1	41	51
MUT:CFTR:Ser13Phe	PROT:P13569	CFTR	S	13	F	S13F	Pathogenic	1	3	41	32
MUT:CFTR:Ser341Pro	PROT:P13569	CFTR	S	341	P	S341P	Pathogenic	1	3	41	50
MUT:CFTR:Ser364Pro	PROT:P13569	CFTR	S	364	P	S364P	Likely pathogenic	1	2	41	57
MUT:CFTR:Ser485Arg	PROT:P13569	CFTR	S	485	R	S485R	Likely pathogenic	1	1	41	26
MUT:CFTR:Ser492Cys	PROT:P13569	CFTR	S	492	C	S492C	Likely pathogenic	1	1	41	19
MUT:CFTR:Ser492Phe	PROT:P13569	CFTR	S	492	F	S492F	Pathogenic	1	3	41	19
MUT:CFTR:Ser50Pro	PROT:P13569	CFTR	S	50	P	S50P	Pathogenic	1	1	41	0
MUT:CFTR:Ser549Ile	PROT:P13569	CFTR	S	549	I	S549I	Pathogenic	1	1	41	0
MUT:CFTR:Ser589Asn	PROT:P13569	CFTR	S	589	N	S589N	Pathogenic/Likely pathogenic	1	3	41	7
MUT:CFTR:Ser589Ile	PROT:P13569	CFTR	S	589	I	S589I	Pathogenic/Likely pathogenic	1	1	41	7
MUT:CFTR:Ser756Asn	PROT:P13569	CFTR	S	756	N	S756N	Likely benign	0	1	41	3
MUT:CFTR:Ser909Arg	PROT:P13569	CFTR	S	909	R	S909R	Likely benign	0	1	41	93
MUT:CFTR:Thr1036Ala	PROT:P13569	CFTR	T	1036	A	T1036A	Likely pathogenic	1	1	41	9
MUT:CFTR:Thr1036Asn	PROT:P13569	CFTR	T	1036	N	T1036N	Pathogenic	1	3	41	9
MUT:CFTR:Thr1036Ile	PROT:P13569	CFTR	T	1036	I	T1036I	Pathogenic/Likely pathogenic	1	3	41	9
MUT:CFTR:Thr1064Pro	PROT:P13569	CFTR	T	1064	P	T1064P	Likely pathogenic	1	1	41	19
MUT:CFTR:Thr1246Ile	PROT:P13569	CFTR	T	1246	I	T1246I	Pathogenic/Likely pathogenic	1	4	41	70
MUT:CFTR:Thr338Ile	PROT:P13569	CFTR	T	338	I	T338I	Pathogenic	1	3	41	47
MUT:CFTR:Thr465Asn	PROT:P13569	CFTR	T	465	N	T465N	Pathogenic/Likely pathogenic	1	3	41	38
MUT:CFTR:Thr501Ala	PROT:P13569	CFTR	T	501	A	T501A	Pathogenic/Likely pathogenic	1	2	41	10
MUT:CFTR:Thr501Ile	PROT:P13569	CFTR	T	501	I	T501I	Likely pathogenic	1	2	41	10
MUT:CFTR:Thr604Ala	PROT:P13569	CFTR	T	604	A	T604A	Likely pathogenic	1	1	41	0
MUT:CFTR:Thr604Ile	PROT:P13569	CFTR	T	604	I	T604I	Pathogenic/Likely pathogenic	1	2	41	0
MUT:CFTR:Trp1098Arg	PROT:P13569	CFTR	W	1098	R	W1098R	Pathogenic	1	2	41	53
MUT:CFTR:Trp1098Cys	PROT:P13569	CFTR	W	1098	C	W1098C	Pathogenic	1	2	41	53
MUT:CFTR:Trp1098Leu	PROT:P13569	CFTR	W	1098	L	W1098L	Likely pathogenic	1	1	41	53
MUT:CFTR:Trp1098Ser	PROT:P13569	CFTR	W	1098	S	W1098S	Pathogenic	1	1	41	53
MUT:CFTR:Trp1145Ser	PROT:P13569	CFTR	W	1145	S	W1145S	Likely pathogenic	1	1	41	31
MUT:CFTR:Trp1282Arg	PROT:P13569	CFTR	W	1282	R	W1282R	Pathogenic	1	2	41	80
MUT:CFTR:Trp1282Gly	PROT:P13569	CFTR	W	1282	G	W1282G	Pathogenic	1	1	41	80
MUT:CFTR:Trp19Cys	PROT:P13569	CFTR	W	19	C	W19C	Likely pathogenic	1	1	41	26
MUT:CFTR:Trp57Arg	PROT:P13569	CFTR	W	57	R	W57R	Pathogenic/Likely pathogenic	1	2	41	7
MUT:CFTR:Trp57Gly	PROT:P13569	CFTR	W	57	G	W57G	Pathogenic	1	3	41	7
MUT:CFTR:Tyr1032Cys	PROT:P13569	CFTR	Y	1032	C	Y1032C	Pathogenic/Likely pathogenic	1	4	41	13
MUT:CFTR:Tyr1073Cys	PROT:P13569	CFTR	Y	1073	C	Y1073C	Likely pathogenic	1	1	41	28
MUT:CFTR:Tyr109Cys	PROT:P13569	CFTR	Y	109	C	Y109C	Pathogenic/Likely pathogenic	1	3	41	15
MUT:CFTR:Tyr109His	PROT:P13569	CFTR	Y	109	H	Y109H	Likely pathogenic	1	1	41	15
MUT:CFTR:Tyr161Asp	PROT:P13569	CFTR	Y	161	D	Y161D	Pathogenic	1	2	41	67
MUT:CFTR:Tyr512His	PROT:P13569	CFTR	Y	512	H	Y512H	Likely pathogenic	1	1	41	0
MUT:CFTR:Tyr517Cys	PROT:P13569	CFTR	Y	517	C	Y517C	Likely pathogenic	1	1	41	0
MUT:CFTR:Tyr563Asn	PROT:P13569	CFTR	Y	563	N	Y563N	Pathogenic	1	3	41	14
MUT:CFTR:Tyr563Asp	PROT:P13569	CFTR	Y	563	D	Y563D	Pathogenic	1	2	41	14
MUT:CFTR:Tyr563Cys	PROT:P13569	CFTR	Y	563	C	Y563C	Likely pathogenic	1	1	41	14
MUT:CFTR:Tyr563His	PROT:P13569	CFTR	Y	563	H	Y563H	Pathogenic/Likely pathogenic	1	2	41	14
MUT:CFTR:Tyr569Asp	PROT:P13569	CFTR	Y	569	D	Y569D	Pathogenic	1	4	41	13
MUT:CFTR:Tyr569Cys	PROT:P13569	CFTR	Y	569	C	Y569C	Pathogenic	1	2	41	13
MUT:CFTR:Tyr569His	PROT:P13569	CFTR	Y	569	H	Y569H	Pathogenic/Likely pathogenic	1	1	41	13
MUT:CFTR:Tyr913Cys	PROT:P13569	CFTR	Y	913	C	Y913C	Pathogenic/Likely pathogenic	1	3	41	97
MUT:CFTR:Val1240Gly	PROT:P13569	CFTR	V	1240	G	V1240G	Pathogenic	1	2	41	64
MUT:CFTR:Val232Asp	PROT:P13569	CFTR	V	232	D	V232D	Pathogenic	1	3	41	24
MUT:CFTR:Val317Glu	PROT:P13569	CFTR	V	317	E	V317E	Likely pathogenic	1	1	41	26
MUT:CFTR:Val456Ala	PROT:P13569	CFTR	V	456	A	V456A	Pathogenic	1	4	41	29
MUT:CFTR:Val456Phe	PROT:P13569	CFTR	V	456	F	V456F	Pathogenic/Likely pathogenic	1	1	41	29
MUT:CFTR:Val470Met	PROT:P13569	CFTR	V	470	M	V470M	Benign/Likely benign	0	2	41	41
MUT:CFTR:Val510Gly	PROT:P13569	CFTR	V	510	G	V510G	Likely pathogenic	1	1	41	1
MUT:CFTR:Val520Ala	PROT:P13569	CFTR	V	520	A	V520A	Likely pathogenic	1	1	41	3
MUT:CFTR:Val520Asp	PROT:P13569	CFTR	V	520	D	V520D	Likely pathogenic	1	1	41	3
MUT:CFTR:Val520Leu	PROT:P13569	CFTR	V	520	L	V520L	Likely pathogenic	1	1	41	3
MUT:CFTR:Val520Phe	PROT:P13569	CFTR	V	520	F	V520F	Pathogenic	1	3	41	3
MUT:CHCHD2:Pro2Leu	PROT:Q9Y6H1	CHCHD2	P	2	L	P2L	Benign/Likely benign	0	1	4	39
MUT:CHCHD2:Thr61Ile	PROT:Q9Y6H1	CHCHD2	T	61	I	T61I	Pathogenic	1	1	4	20
MUT:CHCHD2:Val140Met	PROT:Q9Y6H1	CHCHD2	V	140	M	V140M	Benign	0	1	4	2
MUT:CHD1:Arg460Lys	PROT:O14646	CHD1	R	460	K	R460K	Pathogenic	1	1	58	5
MUT:CHD1:Arg618Gln	PROT:O14646	CHD1	R	618	Q	R618Q	Pathogenic	1	1	58	2
MUT:CHD1:Asn227Asp	PROT:O14646	CHD1	N	227	D	N227D	Likely benign	0	1	58	2
MUT:CHD1:Asp1512Gly	PROT:O14646	CHD1	D	1512	G	D1512G	Likely benign	0	1	58	31
MUT:CHD1:Glu1045Lys	PROT:O14646	CHD1	E	1045	K	E1045K	Likely pathogenic	1	1	58	17
MUT:CHD1:Glu177Gly	PROT:O14646	CHD1	E	177	G	E177G	Likely benign	0	1	58	3
MUT:CHD1:Glu669Val	PROT:O14646	CHD1	E	669	V	E669V	Benign/Likely benign	0	9	58	35
MUT:CHD1:His1561Tyr	PROT:O14646	CHD1	H	1561	Y	H1561Y	Likely benign	0	2	58	18
MUT:CHD1:Ile1345Val	PROT:O14646	CHD1	I	1345	V	I1345V	Benign/Likely benign	0	1	58	18
MUT:CHD1:Ile660Val	PROT:O14646	CHD1	I	660	V	I660V	Likely pathogenic	1	1	58	26
MUT:CHD1:Lys664Asn	PROT:O14646	CHD1	K	664	N	K664N	Likely benign	0	1	58	30
MUT:CHD1:Thr1650Met	PROT:O14646	CHD1	T	1650	M	T1650M	Benign	0	1	58	27
MUT:CHD1:Tyr774Phe	PROT:O14646	CHD1	Y	774	F	Y774F	Benign	0	4	58	49
MUT:CHD1:Val96Ile	PROT:O14646	CHD1	V	96	I	V96I	Benign	0	1	58	4
MUT:CHD7:Ala1602Thr	PROT:Q9P2D1	CHD7	A	1602	T	A1602T	Likely benign	0	1	75	21
MUT:CHD7:Ala1757Thr	PROT:Q9P2D1	CHD7	A	1757	T	A1757T	Benign	0	1	75	36
MUT:CHD7:Ala1887Gly	PROT:Q9P2D1	CHD7	A	1887	G	A1887G	Likely benign	0	1	75	11
MUT:CHD7:Ala2127Thr	PROT:Q9P2D1	CHD7	A	2127	T	A2127T	Likely benign	0	1	75	14
MUT:CHD7:Ala2132Thr	PROT:Q9P2D1	CHD7	A	2132	T	A2132T	Likely benign	0	1	75	9
MUT:CHD7:Ala2147Thr	PROT:Q9P2D1	CHD7	A	2147	T	A2147T	Benign	0	1	75	6
MUT:CHD7:Ala2160Thr	PROT:Q9P2D1	CHD7	A	2160	T	A2160T	Benign/Likely benign	0	1	75	7
MUT:CHD7:Ala2211Thr	PROT:Q9P2D1	CHD7	A	2211	T	A2211T	Likely benign	0	1	75	18
MUT:CHD7:Ala2364Ser	PROT:Q9P2D1	CHD7	A	2364	S	A2364S	Benign	0	1	75	8
MUT:CHD7:Ala2414Ser	PROT:Q9P2D1	CHD7	A	2414	S	A2414S	Likely benign	0	1	75	19
MUT:CHD7:Ala2414Val	PROT:Q9P2D1	CHD7	A	2414	V	A2414V	Likely benign	0	1	75	19
MUT:CHD7:Ala2415Ser	PROT:Q9P2D1	CHD7	A	2415	S	A2415S	Benign	0	1	75	20
MUT:CHD7:Ala263Val	PROT:Q9P2D1	CHD7	A	263	V	A263V	Likely benign	0	1	75	188
MUT:CHD7:Ala2663Val	PROT:Q9P2D1	CHD7	A	2663	V	A2663V	Likely benign	0	1	75	35
MUT:CHD7:Ala2730Thr	PROT:Q9P2D1	CHD7	A	2730	T	A2730T	Benign/Likely benign	0	1	75	15
MUT:CHD7:Ala2770Thr	PROT:Q9P2D1	CHD7	A	2770	T	A2770T	Benign	0	1	75	55
MUT:CHD7:Ala2785Thr	PROT:Q9P2D1	CHD7	A	2785	T	A2785T	Likely benign	0	3	75	70
MUT:CHD7:Ala2789Thr	PROT:Q9P2D1	CHD7	A	2789	T	A2789T	Benign	0	1	75	74
MUT:CHD7:Ala2793Gly	PROT:Q9P2D1	CHD7	A	2793	G	A2793G	Likely benign	0	1	75	78
MUT:CHD7:Ala2830Thr	PROT:Q9P2D1	CHD7	A	2830	T	A2830T	Benign/Likely benign	0	3	75	115
MUT:CHD7:Ala2870Val	PROT:Q9P2D1	CHD7	A	2870	V	A2870V	Benign	0	1	75	82
MUT:CHD7:Ala2925Thr	PROT:Q9P2D1	CHD7	A	2925	T	A2925T	Benign/Likely benign	0	1	75	27
MUT:CHD7:Ala2966Ser	PROT:Q9P2D1	CHD7	A	2966	S	A2966S	Likely pathogenic	1	1	75	1
MUT:CHD7:Ala2Glu	PROT:Q9P2D1	CHD7	A	2	E	A2E	Likely pathogenic	1	1	75	73
MUT:CHD7:Ala688Thr	PROT:Q9P2D1	CHD7	A	688	T	A688T	Benign	0	1	75	20
MUT:CHD7:Ala688Val	PROT:Q9P2D1	CHD7	A	688	V	A688V	Benign	0	1	75	20
MUT:CHD7:Ala950Thr	PROT:Q9P2D1	CHD7	A	950	T	A950T	Benign/Likely benign	0	1	75	16
MUT:CHD7:Ala99Thr	PROT:Q9P2D1	CHD7	A	99	T	A99T	Benign/Likely benign	0	1	75	24
MUT:CHD7:Arg1069Gln	PROT:Q9P2D1	CHD7	R	1069	Q	R1069Q	Likely benign	0	1	75	47
MUT:CHD7:Arg1317His	PROT:Q9P2D1	CHD7	R	1317	H	R1317H	Likely benign	0	1	75	20
MUT:CHD7:Arg1345His	PROT:Q9P2D1	CHD7	R	1345	H	R1345H	Pathogenic/Likely pathogenic	1	1	75	48
MUT:CHD7:Arg1399Gly	PROT:Q9P2D1	CHD7	R	1399	G	R1399G	Likely pathogenic	1	1	75	28
MUT:CHD7:Arg1557Gly	PROT:Q9P2D1	CHD7	R	1557	G	R1557G	Likely pathogenic	1	1	75	2
MUT:CHD7:Arg1563Lys	PROT:Q9P2D1	CHD7	R	1563	K	R1563K	Likely benign	0	1	75	8
MUT:CHD7:Arg1593Cys	PROT:Q9P2D1	CHD7	R	1593	C	R1593C	Likely benign	0	2	75	12
MUT:CHD7:Arg1620Gln	PROT:Q9P2D1	CHD7	R	1620	Q	R1620Q	Benign	0	1	75	15
MUT:CHD7:Arg1677Gln	PROT:Q9P2D1	CHD7	R	1677	Q	R1677Q	Likely benign	0	1	75	42
MUT:CHD7:Arg1741His	PROT:Q9P2D1	CHD7	R	1741	H	R1741H	Likely benign	0	1	75	52
MUT:CHD7:Arg1743Cys	PROT:Q9P2D1	CHD7	R	1743	C	R1743C	Likely pathogenic	1	1	75	50
MUT:CHD7:Arg1810Gln	PROT:Q9P2D1	CHD7	R	1810	Q	R1810Q	Likely benign	0	1	75	17
MUT:CHD7:Arg1915Gln	PROT:Q9P2D1	CHD7	R	1915	Q	R1915Q	Likely pathogenic	1	1	75	39
MUT:CHD7:Arg1942Gln	PROT:Q9P2D1	CHD7	R	1942	Q	R1942Q	Benign	0	1	75	66
MUT:CHD7:Arg1943Trp	PROT:Q9P2D1	CHD7	R	1943	W	R1943W	Benign	0	1	75	67
MUT:CHD7:Arg1945Gly	PROT:Q9P2D1	CHD7	R	1945	G	R1945G	Likely benign	0	1	75	69
MUT:CHD7:Arg1963Gln	PROT:Q9P2D1	CHD7	R	1963	Q	R1963Q	Benign/Likely benign	0	1	75	87
MUT:CHD7:Arg2024Gly	PROT:Q9P2D1	CHD7	R	2024	G	R2024G	Likely benign	0	1	75	86
MUT:CHD7:Arg2027Gln	PROT:Q9P2D1	CHD7	R	2027	Q	R2027Q	Benign/Likely benign	0	2	75	83
MUT:CHD7:Arg2057His	PROT:Q9P2D1	CHD7	R	2057	H	R2057H	Likely benign	0	1	75	53
MUT:CHD7:Arg2065Cys	PROT:Q9P2D1	CHD7	R	2065	C	R2065C	Pathogenic/Likely pathogenic	1	5	75	45
MUT:CHD7:Arg2095Trp	PROT:Q9P2D1	CHD7	R	2095	W	R2095W	Likely benign	0	1	75	15
MUT:CHD7:Arg2111Gln	PROT:Q9P2D1	CHD7	R	2111	Q	R2111Q	Likely benign	0	1	75	1
MUT:CHD7:Arg2319Cys	PROT:Q9P2D1	CHD7	R	2319	C	R2319C	Pathogenic	1	4	75	30
MUT:CHD7:Arg2319Ser	PROT:Q9P2D1	CHD7	R	2319	S	R2319S	Pathogenic	1	1	75	30
MUT:CHD7:Arg2361Ser	PROT:Q9P2D1	CHD7	R	2361	S	R2361S	Benign	0	1	75	5
MUT:CHD7:Arg2398His	PROT:Q9P2D1	CHD7	R	2398	H	R2398H	Benign	0	1	75	3
MUT:CHD7:Arg2400Gln	PROT:Q9P2D1	CHD7	R	2400	Q	R2400Q	Benign	0	2	75	5
MUT:CHD7:Arg2491Cys	PROT:Q9P2D1	CHD7	R	2491	C	R2491C	Benign	0	1	75	1
MUT:CHD7:Arg2491His	PROT:Q9P2D1	CHD7	R	2491	H	R2491H	Benign/Likely benign	0	1	75	1
MUT:CHD7:Arg2495Ser	PROT:Q9P2D1	CHD7	R	2495	S	R2495S	Benign/Likely benign	0	1	75	3
MUT:CHD7:Arg250His	PROT:Q9P2D1	CHD7	R	250	H	R250H	Benign	0	1	75	175
MUT:CHD7:Arg2513Trp	PROT:Q9P2D1	CHD7	R	2513	W	R2513W	Likely benign	0	1	75	12
MUT:CHD7:Arg2531Gln	PROT:Q9P2D1	CHD7	R	2531	Q	R2531Q	Benign	0	1	75	2
MUT:CHD7:Arg2531Trp	PROT:Q9P2D1	CHD7	R	2531	W	R2531W	Likely benign	0	1	75	2
MUT:CHD7:Arg2555Lys	PROT:Q9P2D1	CHD7	R	2555	K	R2555K	Likely benign	0	1	75	1
MUT:CHD7:Arg2568Gln	PROT:Q9P2D1	CHD7	R	2568	Q	R2568Q	Likely benign	0	1	75	9
MUT:CHD7:Arg2710Gln	PROT:Q9P2D1	CHD7	R	2710	Q	R2710Q	Likely benign	0	1	75	5
MUT:CHD7:Arg286Gly	PROT:Q9P2D1	CHD7	R	286	G	R286G	Benign/Likely benign	0	2	75	211
MUT:CHD7:Arg295Gln	PROT:Q9P2D1	CHD7	R	295	Q	R295Q	Likely benign	0	1	75	220
MUT:CHD7:Arg295Trp	PROT:Q9P2D1	CHD7	R	295	W	R295W	Benign/Likely benign	0	1	75	220
MUT:CHD7:Arg312Gln	PROT:Q9P2D1	CHD7	R	312	Q	R312Q	Benign	0	1	75	237
MUT:CHD7:Arg892His	PROT:Q9P2D1	CHD7	R	892	H	R892H	Benign/Likely benign	0	1	75	36
MUT:CHD7:Arg897Gln	PROT:Q9P2D1	CHD7	R	897	Q	R897Q	Benign/Likely benign	0	1	75	31
MUT:CHD7:Arg920Trp	PROT:Q9P2D1	CHD7	R	920	W	R920W	Benign/Likely benign	0	1	75	8
MUT:CHD7:Arg938Lys	PROT:Q9P2D1	CHD7	R	938	K	R938K	Benign	0	1	75	4
MUT:CHD7:Arg944His	PROT:Q9P2D1	CHD7	R	944	H	R944H	Benign/Likely benign	0	3	75	10
MUT:CHD7:Asn1030Asp	PROT:Q9P2D1	CHD7	N	1030	D	N1030D	Likely pathogenic	1	1	75	86
MUT:CHD7:Asn1030Ser	PROT:Q9P2D1	CHD7	N	1030	S	N1030S	Pathogenic	1	1	75	86
MUT:CHD7:Asn1274Asp	PROT:Q9P2D1	CHD7	N	1274	D	N1274D	Likely benign	0	1	75	18
MUT:CHD7:Asn2118Ser	PROT:Q9P2D1	CHD7	N	2118	S	N2118S	Benign/Likely benign	0	4	75	8
MUT:CHD7:Asn2130Ile	PROT:Q9P2D1	CHD7	N	2130	I	N2130I	Likely benign	0	1	75	11
MUT:CHD7:Asn2469Thr	PROT:Q9P2D1	CHD7	N	2469	T	N2469T	Likely benign	0	1	75	3
MUT:CHD7:Asn2588Ser	PROT:Q9P2D1	CHD7	N	2588	S	N2588S	Pathogenic	1	1	75	29
MUT:CHD7:Asn2808Ser	PROT:Q9P2D1	CHD7	N	2808	S	N2808S	Benign/Likely benign	0	1	75	93
MUT:CHD7:Asn2818Lys	PROT:Q9P2D1	CHD7	N	2818	K	N2818K	Likely benign	0	1	75	103
MUT:CHD7:Asn2826Ser	PROT:Q9P2D1	CHD7	N	2826	S	N2826S	Benign/Likely benign	0	1	75	111
MUT:CHD7:Asn2854Lys	PROT:Q9P2D1	CHD7	N	2854	K	N2854K	Benign	0	1	75	98
MUT:CHD7:Asn2886Asp	PROT:Q9P2D1	CHD7	N	2886	D	N2886D	Benign	0	1	75	66
MUT:CHD7:Asn337Lys	PROT:Q9P2D1	CHD7	N	337	K	N337K	Benign	0	1	75	220
MUT:CHD7:Asn966Ser	PROT:Q9P2D1	CHD7	N	966	S	N966S	Likely benign	0	1	75	32
MUT:CHD7:Asp1596Val	PROT:Q9P2D1	CHD7	D	1596	V	D1596V	Likely pathogenic	1	1	75	15
MUT:CHD7:Asp1758Asn	PROT:Q9P2D1	CHD7	D	1758	N	D1758N	Benign	0	1	75	35
MUT:CHD7:Asp1770Asn	PROT:Q9P2D1	CHD7	D	1770	N	D1770N	Likely benign	0	1	75	23
MUT:CHD7:Asp1770Gly	PROT:Q9P2D1	CHD7	D	1770	G	D1770G	Likely benign	0	1	75	23
MUT:CHD7:Asp1812Glu	PROT:Q9P2D1	CHD7	D	1812	E	D1812E	Likely pathogenic	1	1	75	19
MUT:CHD7:Asp1812Gly	PROT:Q9P2D1	CHD7	D	1812	G	D1812G	Pathogenic	1	1	75	19
MUT:CHD7:Asp1812Val	PROT:Q9P2D1	CHD7	D	1812	V	D1812V	Likely pathogenic	1	1	75	19
MUT:CHD7:Asp1878Val	PROT:Q9P2D1	CHD7	D	1878	V	D1878V	Likely benign	0	1	75	2
MUT:CHD7:Asp2097His	PROT:Q9P2D1	CHD7	D	2097	H	D2097H	Pathogenic	1	1	75	13
MUT:CHD7:Asp2197Asn	PROT:Q9P2D1	CHD7	D	2197	N	D2197N	Benign/Likely benign	0	1	75	32
MUT:CHD7:Asp2226Gly	PROT:Q9P2D1	CHD7	D	2226	G	D2226G	Benign	0	1	75	3
MUT:CHD7:Asp2538Asn	PROT:Q9P2D1	CHD7	D	2538	N	D2538N	Likely benign	0	1	75	3
MUT:CHD7:Asp2668Glu	PROT:Q9P2D1	CHD7	D	2668	E	D2668E	Benign	0	1	75	30
MUT:CHD7:Asp2788Asn	PROT:Q9P2D1	CHD7	D	2788	N	D2788N	Benign	0	1	75	73
MUT:CHD7:Asp2852Asn	PROT:Q9P2D1	CHD7	D	2852	N	D2852N	Benign	0	1	75	100
MUT:CHD7:Asp2957Asn	PROT:Q9P2D1	CHD7	D	2957	N	D2957N	Likely benign	0	1	75	1
MUT:CHD7:Asp2985Glu	PROT:Q9P2D1	CHD7	D	2985	E	D2985E	Benign	0	1	75	2
MUT:CHD7:Asp3Asn	PROT:Q9P2D1	CHD7	D	3	N	D3N	Benign	0	1	75	72
MUT:CHD7:Asp652Glu	PROT:Q9P2D1	CHD7	D	652	E	D652E	Likely benign	0	1	75	15
MUT:CHD7:Asp70His	PROT:Q9P2D1	CHD7	D	70	H	D70H	Likely benign	0	2	75	5
MUT:CHD7:Asp728Asn	PROT:Q9P2D1	CHD7	D	728	N	D728N	Benign/Likely benign	0	1	75	2
MUT:CHD7:Asp728Gly	PROT:Q9P2D1	CHD7	D	728	G	D728G	Benign	0	1	75	2
MUT:CHD7:Asp740Asn	PROT:Q9P2D1	CHD7	D	740	N	D740N	Likely benign	0	1	75	6
MUT:CHD7:Asp742Asn	PROT:Q9P2D1	CHD7	D	742	N	D742N	Benign	0	1	75	8
MUT:CHD7:Asp849Gly	PROT:Q9P2D1	CHD7	D	849	G	D849G	Likely pathogenic	1	1	75	63
MUT:CHD7:Asp880Val	PROT:Q9P2D1	CHD7	D	880	V	D880V	Likely benign	0	1	75	48
MUT:CHD7:Asp889Asn	PROT:Q9P2D1	CHD7	D	889	N	D889N	Likely benign	0	1	75	39
MUT:CHD7:Cys1101Arg	PROT:Q9P2D1	CHD7	C	1101	R	C1101R	Pathogenic/Likely pathogenic	1	2	75	15
MUT:CHD7:Cys1101Tyr	PROT:Q9P2D1	CHD7	C	1101	Y	C1101Y	Pathogenic/Likely pathogenic	1	2	75	15
MUT:CHD7:Cys1251Arg	PROT:Q9P2D1	CHD7	C	1251	R	C1251R	Likely pathogenic	1	1	75	1
MUT:CHD7:Cys1643Tyr	PROT:Q9P2D1	CHD7	C	1643	Y	C1643Y	Likely pathogenic	1	1	75	8
MUT:CHD7:Gln1214His	PROT:Q9P2D1	CHD7	Q	1214	H	Q1214H	Likely pathogenic	1	1	75	3
MUT:CHD7:Gln1214Pro	PROT:Q9P2D1	CHD7	Q	1214	P	Q1214P	Pathogenic	1	1	75	3
MUT:CHD7:Gln1235His	PROT:Q9P2D1	CHD7	Q	1235	H	Q1235H	Likely benign	0	1	75	8
MUT:CHD7:Gln1633Glu	PROT:Q9P2D1	CHD7	Q	1633	E	Q1633E	Likely benign	0	1	75	2
MUT:CHD7:Gln1708Arg	PROT:Q9P2D1	CHD7	Q	1708	R	Q1708R	Benign	0	1	75	73
MUT:CHD7:Gln187Pro	PROT:Q9P2D1	CHD7	Q	187	P	Q187P	Likely benign	0	1	75	112
MUT:CHD7:Gln2438Arg	PROT:Q9P2D1	CHD7	Q	2438	R	Q2438R	Benign	0	1	75	8
MUT:CHD7:Gln2438Pro	PROT:Q9P2D1	CHD7	Q	2438	P	Q2438P	Benign/Likely benign	0	2	75	8
MUT:CHD7:Gln2481His	PROT:Q9P2D1	CHD7	Q	2481	H	Q2481H	Likely benign	0	1	75	9
MUT:CHD7:Gln297His	PROT:Q9P2D1	CHD7	Q	297	H	Q297H	Likely benign	0	1	75	222
MUT:CHD7:Gln309Lys	PROT:Q9P2D1	CHD7	Q	309	K	Q309K	Likely benign	0	1	75	234
MUT:CHD7:Gln330Glu	PROT:Q9P2D1	CHD7	Q	330	E	Q330E	Benign/Likely benign	0	1	75	227
MUT:CHD7:Gln365His	PROT:Q9P2D1	CHD7	Q	365	H	Q365H	Benign/Likely benign	0	1	75	192
MUT:CHD7:Gln492Arg	PROT:Q9P2D1	CHD7	Q	492	R	Q492R	Likely benign	0	1	75	65
MUT:CHD7:Gln572His	PROT:Q9P2D1	CHD7	Q	572	H	Q572H	Benign	0	1	75	7
MUT:CHD7:Gln746His	PROT:Q9P2D1	CHD7	Q	746	H	Q746H	Likely pathogenic	1	1	75	12
MUT:CHD7:Gln972Arg	PROT:Q9P2D1	CHD7	Q	972	R	Q972R	Pathogenic/Likely pathogenic	1	1	75	38
MUT:CHD7:Glu1276Asp	PROT:Q9P2D1	CHD7	E	1276	D	E1276D	Likely benign	0	1	75	20
MUT:CHD7:Glu12Lys	PROT:Q9P2D1	CHD7	E	12	K	E12K	Likely benign	0	1	75	63
MUT:CHD7:Glu1897Lys	PROT:Q9P2D1	CHD7	E	1897	K	E1897K	Benign	0	2	75	21
MUT:CHD7:Glu2012Val	PROT:Q9P2D1	CHD7	E	2012	V	E2012V	Likely pathogenic	1	1	75	98
MUT:CHD7:Glu2177Lys	PROT:Q9P2D1	CHD7	E	2177	K	E2177K	Benign/Likely benign	0	1	75	24
MUT:CHD7:Glu2193Lys	PROT:Q9P2D1	CHD7	E	2193	K	E2193K	Likely benign	0	2	75	36
MUT:CHD7:Glu267Gly	PROT:Q9P2D1	CHD7	E	267	G	E267G	Likely benign	0	1	75	192
MUT:CHD7:Glu2974Lys	PROT:Q9P2D1	CHD7	E	2974	K	E2974K	Benign	0	1	75	9
MUT:CHD7:Glu560Lys	PROT:Q9P2D1	CHD7	E	560	K	E560K	Benign	0	1	75	1
MUT:CHD7:Glu871Asp	PROT:Q9P2D1	CHD7	E	871	D	E871D	Likely pathogenic	1	1	75	57
MUT:CHD7:Glu930Lys	PROT:Q9P2D1	CHD7	E	930	K	E930K	Benign/Likely benign	0	1	75	2
MUT:CHD7:Gly1232Asp	PROT:Q9P2D1	CHD7	G	1232	D	G1232D	Benign	0	1	75	5
MUT:CHD7:Gly1233Asp	PROT:Q9P2D1	CHD7	G	1233	D	G1233D	Likely benign	0	1	75	6
MUT:CHD7:Gly1233Ser	PROT:Q9P2D1	CHD7	G	1233	S	G1233S	Benign	0	2	75	6
MUT:CHD7:Gly1260Cys	PROT:Q9P2D1	CHD7	G	1260	C	G1260C	Likely pathogenic	1	1	75	4
MUT:CHD7:Gly1684Arg	PROT:Q9P2D1	CHD7	G	1684	R	G1684R	Likely pathogenic	1	1	75	49
MUT:CHD7:Gly1684Ser	PROT:Q9P2D1	CHD7	G	1684	S	G1684S	Pathogenic	1	1	75	49
MUT:CHD7:Gly1802Ser	PROT:Q9P2D1	CHD7	G	1802	S	G1802S	Likely pathogenic	1	1	75	9
MUT:CHD7:Gly1802Val	PROT:Q9P2D1	CHD7	G	1802	V	G1802V	Pathogenic	1	1	75	9
MUT:CHD7:Gly181Asp	PROT:Q9P2D1	CHD7	G	181	D	G181D	Benign	0	1	75	106
MUT:CHD7:Gly1822Asp	PROT:Q9P2D1	CHD7	G	1822	D	G1822D	Likely benign	0	1	75	29
MUT:CHD7:Gly1845Glu	PROT:Q9P2D1	CHD7	G	1845	E	G1845E	Likely pathogenic	1	1	75	17
MUT:CHD7:Gly1982Trp	PROT:Q9P2D1	CHD7	G	1982	W	G1982W	Likely pathogenic	1	1	75	106
MUT:CHD7:Gly2108Arg	PROT:Q9P2D1	CHD7	G	2108	R	G2108R	Pathogenic/Likely pathogenic	1	2	75	2
MUT:CHD7:Gly2108Trp	PROT:Q9P2D1	CHD7	G	2108	W	G2108W	Pathogenic	1	1	75	2
MUT:CHD7:Gly2149Glu	PROT:Q9P2D1	CHD7	G	2149	E	G2149E	Benign	0	1	75	4
MUT:CHD7:Gly2200Trp	PROT:Q9P2D1	CHD7	G	2200	W	G2200W	Likely benign	0	1	75	29
MUT:CHD7:Gly2224Ser	PROT:Q9P2D1	CHD7	G	2224	S	G2224S	Benign	0	1	75	5
MUT:CHD7:Gly2265Arg	PROT:Q9P2D1	CHD7	G	2265	R	G2265R	Likely benign	0	1	75	7
MUT:CHD7:Gly233Asp	PROT:Q9P2D1	CHD7	G	233	D	G233D	Likely benign	0	1	75	158
MUT:CHD7:Gly2370Ser	PROT:Q9P2D1	CHD7	G	2370	S	G2370S	Benign/Likely benign	0	3	75	14
MUT:CHD7:Gly2376Glu	PROT:Q9P2D1	CHD7	G	2376	E	G2376E	Likely benign	0	1	75	19
MUT:CHD7:Gly23Ser	PROT:Q9P2D1	CHD7	G	23	S	G23S	Likely benign	0	1	75	52
MUT:CHD7:Gly2787Ser	PROT:Q9P2D1	CHD7	G	2787	S	G2787S	Benign	0	1	75	72
MUT:CHD7:Gly2814Arg	PROT:Q9P2D1	CHD7	G	2814	R	G2814R	Likely benign	0	1	75	99
MUT:CHD7:Gly2914Arg	PROT:Q9P2D1	CHD7	G	2914	R	G2914R	Benign/Likely benign	0	3	75	38
MUT:CHD7:Gly360Ala	PROT:Q9P2D1	CHD7	G	360	A	G360A	Benign	0	1	75	197
MUT:CHD7:Gly416Glu	PROT:Q9P2D1	CHD7	G	416	E	G416E	Benign	0	1	75	141
MUT:CHD7:Gly446Glu	PROT:Q9P2D1	CHD7	G	446	E	G446E	Benign	0	1	75	111
MUT:CHD7:Gly484Val	PROT:Q9P2D1	CHD7	G	484	V	G484V	Likely benign	0	1	75	73
MUT:CHD7:Gly522Val	PROT:Q9P2D1	CHD7	G	522	V	G522V	Benign/Likely benign	0	3	75	35
MUT:CHD7:Gly614Ser	PROT:Q9P2D1	CHD7	G	614	S	G614S	Likely benign	0	1	75	19
MUT:CHD7:Gly744Ser	PROT:Q9P2D1	CHD7	G	744	S	G744S	Benign/Likely benign	0	1	75	10
MUT:CHD7:His1401Arg	PROT:Q9P2D1	CHD7	H	1401	R	H1401R	Likely pathogenic	1	1	75	26
MUT:CHD7:His1627Tyr	PROT:Q9P2D1	CHD7	H	1627	Y	H1627Y	Likely benign	0	1	75	8
MUT:CHD7:His1801Asn	PROT:Q9P2D1	CHD7	H	1801	N	H1801N	Likely pathogenic	1	1	75	8
MUT:CHD7:His185Gln	PROT:Q9P2D1	CHD7	H	185	Q	H185Q	Benign	0	1	75	110
MUT:CHD7:His2096Arg	PROT:Q9P2D1	CHD7	H	2096	R	H2096R	Pathogenic/Likely pathogenic	1	1	75	14
MUT:CHD7:His2096Tyr	PROT:Q9P2D1	CHD7	H	2096	Y	H2096Y	Likely benign	0	1	75	14
MUT:CHD7:His2128Arg	PROT:Q9P2D1	CHD7	H	2128	R	H2128R	Likely benign	0	1	75	13
MUT:CHD7:His2128Gln	PROT:Q9P2D1	CHD7	H	2128	Q	H2128Q	Benign	0	1	75	13
MUT:CHD7:His2161Gln	PROT:Q9P2D1	CHD7	H	2161	Q	H2161Q	Benign/Likely benign	0	2	75	8
MUT:CHD7:His2529Arg	PROT:Q9P2D1	CHD7	H	2529	R	H2529R	Likely benign	0	1	75	4
MUT:CHD7:His55Arg	PROT:Q9P2D1	CHD7	H	55	R	H55R	Benign	0	2	75	20
MUT:CHD7:His605Asp	PROT:Q9P2D1	CHD7	H	605	D	H605D	Likely benign	0	1	75	28
MUT:CHD7:Ile1001Val	PROT:Q9P2D1	CHD7	I	1001	V	I1001V	Benign/Likely benign	0	1	75	67
MUT:CHD7:Ile1028Val	PROT:Q9P2D1	CHD7	I	1028	V	I1028V	Pathogenic/Likely pathogenic	1	1	75	88
MUT:CHD7:Ile1081Asn	PROT:Q9P2D1	CHD7	I	1081	N	I1081N	Likely pathogenic	1	1	75	35
MUT:CHD7:Ile2162Thr	PROT:Q9P2D1	CHD7	I	2162	T	I2162T	Benign	0	1	75	9
MUT:CHD7:Ile2323Val	PROT:Q9P2D1	CHD7	I	2323	V	I2323V	Benign/Likely benign	0	1	75	26
MUT:CHD7:Ile2549Thr	PROT:Q9P2D1	CHD7	I	2549	T	I2549T	Benign/Likely benign	0	1	75	2
MUT:CHD7:Ile2557Val	PROT:Q9P2D1	CHD7	I	2557	V	I2557V	Benign	0	1	75	2
MUT:CHD7:Ile2572Thr	PROT:Q9P2D1	CHD7	I	2572	T	I2572T	Likely benign	0	1	75	13
MUT:CHD7:Ile2572Val	PROT:Q9P2D1	CHD7	I	2572	V	I2572V	Benign	0	1	75	13
MUT:CHD7:Ile2688Arg	PROT:Q9P2D1	CHD7	I	2688	R	I2688R	Likely pathogenic	1	1	75	10
MUT:CHD7:Ile304Val	PROT:Q9P2D1	CHD7	I	304	V	I304V	Benign	0	1	75	229
MUT:CHD7:Ile420Met	PROT:Q9P2D1	CHD7	I	420	M	I420M	Likely benign	0	2	75	137
MUT:CHD7:Ile843Val	PROT:Q9P2D1	CHD7	I	843	V	I843V	Likely benign	0	1	75	57
MUT:CHD7:Ile929Met	PROT:Q9P2D1	CHD7	I	929	M	I929M	Likely benign	0	1	75	1
MUT:CHD7:Leu1020Ser	PROT:Q9P2D1	CHD7	L	1020	S	L1020S	Pathogenic/Likely pathogenic	1	1	75	86
MUT:CHD7:Leu1126Phe	PROT:Q9P2D1	CHD7	L	1126	F	L1126F	Pathogenic	1	1	75	10
MUT:CHD7:Leu1257Arg	PROT:Q9P2D1	CHD7	L	1257	R	L1257R	Pathogenic	1	1	75	1
MUT:CHD7:Leu1294Pro	PROT:Q9P2D1	CHD7	L	1294	P	L1294P	Pathogenic	1	1	75	3
MUT:CHD7:Leu1302Pro	PROT:Q9P2D1	CHD7	L	1302	P	L1302P	Pathogenic	1	1	75	5
MUT:CHD7:Leu1344Phe	PROT:Q9P2D1	CHD7	L	1344	F	L1344F	Likely benign	0	1	75	47
MUT:CHD7:Leu1579Phe	PROT:Q9P2D1	CHD7	L	1579	F	L1579F	Likely benign	0	1	75	2
MUT:CHD7:Leu1651Pro	PROT:Q9P2D1	CHD7	L	1651	P	L1651P	Likely pathogenic	1	1	75	16
MUT:CHD7:Leu1748Arg	PROT:Q9P2D1	CHD7	L	1748	R	L1748R	Pathogenic	1	1	75	45
MUT:CHD7:Leu2117Phe	PROT:Q9P2D1	CHD7	L	2117	F	L2117F	Benign/Likely benign	0	1	75	7
MUT:CHD7:Leu2218Pro	PROT:Q9P2D1	CHD7	L	2218	P	L2218P	Benign	0	1	75	11
MUT:CHD7:Leu2299Ile	PROT:Q9P2D1	CHD7	L	2299	I	L2299I	Likely benign	0	1	75	16
MUT:CHD7:Leu2806Val	PROT:Q9P2D1	CHD7	L	2806	V	L2806V	Benign/Likely benign	0	3	75	91
MUT:CHD7:Leu2984Phe	PROT:Q9P2D1	CHD7	L	2984	F	L2984F	Benign/Likely benign	0	2	75	1
MUT:CHD7:Leu911Phe	PROT:Q9P2D1	CHD7	L	911	F	L911F	Likely pathogenic	1	1	75	17
MUT:CHD7:Leu935Val	PROT:Q9P2D1	CHD7	L	935	V	L935V	Likely benign	0	1	75	1
MUT:CHD7:Leu980Pro	PROT:Q9P2D1	CHD7	L	980	P	L980P	Pathogenic	1	1	75	46
MUT:CHD7:Leu997Ser	PROT:Q9P2D1	CHD7	L	997	S	L997S	Likely pathogenic	1	1	75	63
MUT:CHD7:Lys1076Glu	PROT:Q9P2D1	CHD7	K	1076	E	K1076E	Likely pathogenic	1	1	75	40
MUT:CHD7:Lys1183Gln	PROT:Q9P2D1	CHD7	K	1183	Q	K1183Q	Likely pathogenic	1	1	75	6
MUT:CHD7:Lys1759Asn	PROT:Q9P2D1	CHD7	K	1759	N	K1759N	Likely benign	0	1	75	34
MUT:CHD7:Lys2174Arg	PROT:Q9P2D1	CHD7	K	2174	R	K2174R	Benign	0	1	75	21
MUT:CHD7:Lys2948Glu	PROT:Q9P2D1	CHD7	K	2948	E	K2948E	Benign	0	1	75	4
MUT:CHD7:Lys600Glu	PROT:Q9P2D1	CHD7	K	600	E	K600E	Likely benign	0	1	75	33
MUT:CHD7:Lys716Asn	PROT:Q9P2D1	CHD7	K	716	N	K716N	Likely benign	0	1	75	8
MUT:CHD7:Lys716Met	PROT:Q9P2D1	CHD7	K	716	M	K716M	Likely benign	0	1	75	8
MUT:CHD7:Lys747Asn	PROT:Q9P2D1	CHD7	K	747	N	K747N	Likely benign	0	1	75	13
MUT:CHD7:Lys766Asn	PROT:Q9P2D1	CHD7	K	766	N	K766N	Benign	0	1	75	16
MUT:CHD7:Lys867Arg	PROT:Q9P2D1	CHD7	K	867	R	K867R	Likely benign	0	1	75	61
MUT:CHD7:Lys907Glu	PROT:Q9P2D1	CHD7	K	907	E	K907E	Likely pathogenic	1	1	75	21
MUT:CHD7:Met129Ile	PROT:Q9P2D1	CHD7	M	129	I	M129I	Likely benign	0	1	75	54
MUT:CHD7:Met1442Val	PROT:Q9P2D1	CHD7	M	1442	V	M1442V	Benign	0	1	75	11
MUT:CHD7:Met186Thr	PROT:Q9P2D1	CHD7	M	186	T	M186T	Likely benign	0	1	75	111
MUT:CHD7:Met193Thr	PROT:Q9P2D1	CHD7	M	193	T	M193T	Benign	0	1	75	118
MUT:CHD7:Met193Val	PROT:Q9P2D1	CHD7	M	193	V	M193V	Likely benign	0	1	75	118
MUT:CHD7:Met2276Val	PROT:Q9P2D1	CHD7	M	2276	V	M2276V	Likely benign	0	1	75	1
MUT:CHD7:Met2482Ile	PROT:Q9P2D1	CHD7	M	2482	I	M2482I	Benign	0	1	75	10
MUT:CHD7:Met2527Ile	PROT:Q9P2D1	CHD7	M	2527	I	M2527I	Benign	0	1	75	6
MUT:CHD7:Met2527Leu	PROT:Q9P2D1	CHD7	M	2527	L	M2527L	Benign/Likely benign	0	4	75	6
MUT:CHD7:Met2773Val	PROT:Q9P2D1	CHD7	M	2773	V	M2773V	Likely benign	0	1	75	58
MUT:CHD7:Met2898Ile	PROT:Q9P2D1	CHD7	M	2898	I	M2898I	Likely benign	0	1	75	54
MUT:CHD7:Met340Val	PROT:Q9P2D1	CHD7	M	340	V	M340V	Benign/Likely benign	0	3	75	217
MUT:CHD7:Met381Val	PROT:Q9P2D1	CHD7	M	381	V	M381V	Benign	0	1	75	176
MUT:CHD7:Met396Ile	PROT:Q9P2D1	CHD7	M	396	I	M396I	Benign/Likely benign	0	3	75	161
MUT:CHD7:Met396Val	PROT:Q9P2D1	CHD7	M	396	V	M396V	Benign	0	1	75	161
MUT:CHD7:Met41Ile	PROT:Q9P2D1	CHD7	M	41	I	M41I	Benign	0	1	75	34
MUT:CHD7:Met430Ile	PROT:Q9P2D1	CHD7	M	430	I	M430I	Likely benign	0	1	75	127
MUT:CHD7:Met450Thr	PROT:Q9P2D1	CHD7	M	450	T	M450T	Likely benign	0	1	75	107
MUT:CHD7:Met464Ile	PROT:Q9P2D1	CHD7	M	464	I	M464I	Likely benign	0	1	75	93
MUT:CHD7:Met475Val	PROT:Q9P2D1	CHD7	M	475	V	M475V	Benign/Likely benign	0	2	75	82
MUT:CHD7:Met570Val	PROT:Q9P2D1	CHD7	M	570	V	M570V	Benign	0	1	75	5
MUT:CHD7:Met6Ile	PROT:Q9P2D1	CHD7	M	6	I	M6I	Benign	0	1	75	69
MUT:CHD7:Met888Val	PROT:Q9P2D1	CHD7	M	888	V	M888V	Benign	0	1	75	40
MUT:CHD7:Met995Val	PROT:Q9P2D1	CHD7	M	995	V	M995V	Pathogenic	1	1	75	61
MUT:CHD7:Phe1817Cys	PROT:Q9P2D1	CHD7	F	1817	C	F1817C	Likely pathogenic	1	1	75	24
MUT:CHD7:Phe2124Cys	PROT:Q9P2D1	CHD7	F	2124	C	F2124C	Likely pathogenic	1	1	75	14
MUT:CHD7:Phe2124Ser	PROT:Q9P2D1	CHD7	F	2124	S	F2124S	Likely pathogenic	1	1	75	14
MUT:CHD7:Phe2131Cys	PROT:Q9P2D1	CHD7	F	2131	C	F2131C	Benign	0	1	75	10
MUT:CHD7:Phe2305Leu	PROT:Q9P2D1	CHD7	F	2305	L	F2305L	Benign	0	1	75	22
MUT:CHD7:Phe2342Leu	PROT:Q9P2D1	CHD7	F	2342	L	F2342L	Benign	0	1	75	7
MUT:CHD7:Phe2750Leu	PROT:Q9P2D1	CHD7	F	2750	L	F2750L	Benign/Likely benign	0	3	75	35
MUT:CHD7:Phe2810Ile	PROT:Q9P2D1	CHD7	F	2810	I	F2810I	Likely benign	0	1	75	95
MUT:CHD7:Phe47Val	PROT:Q9P2D1	CHD7	F	47	V	F47V	Benign	0	1	75	28
MUT:CHD7:Pro109Ser	PROT:Q9P2D1	CHD7	P	109	S	P109S	Likely benign	0	1	75	34
MUT:CHD7:Pro147Leu	PROT:Q9P2D1	CHD7	P	147	L	P147L	Likely benign	0	1	75	72
MUT:CHD7:Pro159Leu	PROT:Q9P2D1	CHD7	P	159	L	P159L	Likely benign	0	1	75	84
MUT:CHD7:Pro1705Leu	PROT:Q9P2D1	CHD7	P	1705	L	P1705L	Benign	0	1	75	70
MUT:CHD7:Pro170Leu	PROT:Q9P2D1	CHD7	P	170	L	P170L	Likely benign	0	2	75	95
MUT:CHD7:Pro172Leu	PROT:Q9P2D1	CHD7	P	172	L	P172L	Likely benign	0	1	75	97
MUT:CHD7:Pro174Leu	PROT:Q9P2D1	CHD7	P	174	L	P174L	Benign/Likely benign	0	1	75	99
MUT:CHD7:Pro178Ala	PROT:Q9P2D1	CHD7	P	178	A	P178A	Benign	0	1	75	103
MUT:CHD7:Pro183Arg	PROT:Q9P2D1	CHD7	P	183	R	P183R	Benign	0	1	75	108
MUT:CHD7:Pro206Thr	PROT:Q9P2D1	CHD7	P	206	T	P206T	Benign	0	1	75	131
MUT:CHD7:Pro2072Ser	PROT:Q9P2D1	CHD7	P	2072	S	P2072S	Likely benign	0	1	75	38
MUT:CHD7:Pro2311Leu	PROT:Q9P2D1	CHD7	P	2311	L	P2311L	Likely benign	0	1	75	28
MUT:CHD7:Pro232Thr	PROT:Q9P2D1	CHD7	P	232	T	P232T	Benign/Likely benign	0	3	75	157
MUT:CHD7:Pro2351Leu	PROT:Q9P2D1	CHD7	P	2351	L	P2351L	Likely benign	0	1	75	1
MUT:CHD7:Pro239Ser	PROT:Q9P2D1	CHD7	P	239	S	P239S	Benign	0	1	75	164
MUT:CHD7:Pro2665Ala	PROT:Q9P2D1	CHD7	P	2665	A	P2665A	Benign	0	1	75	33
MUT:CHD7:Pro2683Ser	PROT:Q9P2D1	CHD7	P	2683	S	P2683S	Benign/Likely benign	0	2	75	15
MUT:CHD7:Pro273Ser	PROT:Q9P2D1	CHD7	P	273	S	P273S	Likely benign	0	1	75	198
MUT:CHD7:Pro277Leu	PROT:Q9P2D1	CHD7	P	277	L	P277L	Benign/Likely benign	0	1	75	202
MUT:CHD7:Pro2797Ser	PROT:Q9P2D1	CHD7	P	2797	S	P2797S	Likely benign	0	1	75	82
MUT:CHD7:Pro2880Ser	PROT:Q9P2D1	CHD7	P	2880	S	P2880S	Benign	0	1	75	72
MUT:CHD7:Pro2887Leu	PROT:Q9P2D1	CHD7	P	2887	L	P2887L	Benign	0	1	75	65
MUT:CHD7:Pro2946Ser	PROT:Q9P2D1	CHD7	P	2946	S	P2946S	Benign	0	1	75	6
MUT:CHD7:Pro33Arg	PROT:Q9P2D1	CHD7	P	33	R	P33R	Benign/Likely benign	0	2	75	42
MUT:CHD7:Pro369Ser	PROT:Q9P2D1	CHD7	P	369	S	P369S	Benign	0	1	75	188
MUT:CHD7:Pro36Ser	PROT:Q9P2D1	CHD7	P	36	S	P36S	Benign	0	1	75	39
MUT:CHD7:Pro394Ser	PROT:Q9P2D1	CHD7	P	394	S	P394S	Benign/Likely benign	0	1	75	163
MUT:CHD7:Pro42Ser	PROT:Q9P2D1	CHD7	P	42	S	P42S	Benign	0	1	75	33
MUT:CHD7:Pro439Ser	PROT:Q9P2D1	CHD7	P	439	S	P439S	Likely benign	0	1	75	118
MUT:CHD7:Pro497Thr	PROT:Q9P2D1	CHD7	P	497	T	P497T	Likely benign	0	1	75	60
MUT:CHD7:Pro519Leu	PROT:Q9P2D1	CHD7	P	519	L	P519L	Likely benign	0	2	75	38
MUT:CHD7:Pro519Ser	PROT:Q9P2D1	CHD7	P	519	S	P519S	Benign	0	1	75	38
MUT:CHD7:Pro548Ser	PROT:Q9P2D1	CHD7	P	548	S	P548S	Benign	0	1	75	9
MUT:CHD7:Pro558Ala	PROT:Q9P2D1	CHD7	P	558	A	P558A	Benign/Likely benign	0	1	75	1
MUT:CHD7:Pro594Ser	PROT:Q9P2D1	CHD7	P	594	S	P594S	Benign	0	1	75	29
MUT:CHD7:Pro621His	PROT:Q9P2D1	CHD7	P	621	H	P621H	Likely benign	0	1	75	12
MUT:CHD7:Pro653Leu	PROT:Q9P2D1	CHD7	P	653	L	P653L	Benign/Likely benign	0	2	75	16
MUT:CHD7:Pro656Ser	PROT:Q9P2D1	CHD7	P	656	S	P656S	Benign	0	1	75	19
MUT:CHD7:Pro671Arg	PROT:Q9P2D1	CHD7	P	671	R	P671R	Likely benign	0	1	75	34
MUT:CHD7:Pro671Leu	PROT:Q9P2D1	CHD7	P	671	L	P671L	Benign/Likely benign	0	2	75	34
MUT:CHD7:Pro674Arg	PROT:Q9P2D1	CHD7	P	674	R	P674R	Likely benign	0	1	75	34
MUT:CHD7:Pro86Leu	PROT:Q9P2D1	CHD7	P	86	L	P86L	Likely benign	0	1	75	11
MUT:CHD7:Ser103Thr	PROT:Q9P2D1	CHD7	S	103	T	S103T	Benign/Likely benign	0	2	75	28
MUT:CHD7:Ser1313Pro	PROT:Q9P2D1	CHD7	S	1313	P	S1313P	Likely pathogenic	1	1	75	16
MUT:CHD7:Ser137Ala	PROT:Q9P2D1	CHD7	S	137	A	S137A	Benign/Likely benign	0	2	75	62
MUT:CHD7:Ser1406Arg	PROT:Q9P2D1	CHD7	S	1406	R	S1406R	Likely pathogenic	1	1	75	21
MUT:CHD7:Ser1406Asn	PROT:Q9P2D1	CHD7	S	1406	N	S1406N	Likely benign	0	1	75	21
MUT:CHD7:Ser175Leu	PROT:Q9P2D1	CHD7	S	175	L	S175L	Benign	0	1	75	100
MUT:CHD7:Ser2016Asn	PROT:Q9P2D1	CHD7	S	2016	N	S2016N	Likely benign	0	1	75	94
MUT:CHD7:Ser2159Pro	PROT:Q9P2D1	CHD7	S	2159	P	S2159P	Benign	0	1	75	6
MUT:CHD7:Ser2231Cys	PROT:Q9P2D1	CHD7	S	2231	C	S2231C	Benign/Likely benign	0	1	75	0
MUT:CHD7:Ser2231Phe	PROT:Q9P2D1	CHD7	S	2231	F	S2231F	Likely benign	0	1	75	0
MUT:CHD7:Ser244Arg	PROT:Q9P2D1	CHD7	S	244	R	S244R	Likely benign	0	2	75	169
MUT:CHD7:Ser2490Leu	PROT:Q9P2D1	CHD7	S	2490	L	S2490L	Benign	0	1	75	2
MUT:CHD7:Ser261Phe	PROT:Q9P2D1	CHD7	S	261	F	S261F	Benign	0	1	75	186
MUT:CHD7:Ser2698Leu	PROT:Q9P2D1	CHD7	S	2698	L	S2698L	Benign	0	1	75	0
MUT:CHD7:Ser2831Cys	PROT:Q9P2D1	CHD7	S	2831	C	S2831C	Likely benign	0	1	75	116
MUT:CHD7:Ser2839Asn	PROT:Q9P2D1	CHD7	S	2839	N	S2839N	Likely benign	0	1	75	113
MUT:CHD7:Ser2983Leu	PROT:Q9P2D1	CHD7	S	2983	L	S2983L	Benign	0	1	75	0
MUT:CHD7:Ser343Cys	PROT:Q9P2D1	CHD7	S	343	C	S343C	Benign	0	1	75	214
MUT:CHD7:Ser392Phe	PROT:Q9P2D1	CHD7	S	392	F	S392F	Benign/Likely benign	0	2	75	165
MUT:CHD7:Ser458Cys	PROT:Q9P2D1	CHD7	S	458	C	S458C	Benign	0	1	75	99
MUT:CHD7:Ser708Asn	PROT:Q9P2D1	CHD7	S	708	N	S708N	Likely benign	0	1	75	0
MUT:CHD7:Ser787Phe	PROT:Q9P2D1	CHD7	S	787	F	S787F	Likely benign	0	1	75	1
MUT:CHD7:Ser834Phe	PROT:Q9P2D1	CHD7	S	834	F	S834F	Pathogenic	1	2	75	48
MUT:CHD7:Ser956Leu	PROT:Q9P2D1	CHD7	S	956	L	S956L	Likely benign	0	1	75	22
MUT:CHD7:Ser958Arg	PROT:Q9P2D1	CHD7	S	958	R	S958R	Benign	0	1	75	24
MUT:CHD7:Thr107Asn	PROT:Q9P2D1	CHD7	T	107	N	T107N	Likely benign	0	1	75	32
MUT:CHD7:Thr1416Arg	PROT:Q9P2D1	CHD7	T	1416	R	T1416R	Likely pathogenic	1	1	75	11
MUT:CHD7:Thr1449Ala	PROT:Q9P2D1	CHD7	T	1449	A	T1449A	Benign	0	1	75	7
MUT:CHD7:Thr1521Ile	PROT:Q9P2D1	CHD7	T	1521	I	T1521I	Likely benign	0	1	75	10
MUT:CHD7:Thr2140Ile	PROT:Q9P2D1	CHD7	T	2140	I	T2140I	Benign	0	1	75	1
MUT:CHD7:Thr2227Ser	PROT:Q9P2D1	CHD7	T	2227	S	T2227S	Benign	0	1	75	2
MUT:CHD7:Thr229Pro	PROT:Q9P2D1	CHD7	T	229	P	T229P	Benign	0	1	75	154
MUT:CHD7:Thr2452Ala	PROT:Q9P2D1	CHD7	T	2452	A	T2452A	Likely benign	0	1	75	6
MUT:CHD7:Thr2455Ala	PROT:Q9P2D1	CHD7	T	2455	A	T2455A	Benign	0	1	75	9
MUT:CHD7:Thr2567Ile	PROT:Q9P2D1	CHD7	T	2567	I	T2567I	Likely benign	0	1	75	8
MUT:CHD7:Thr262Ala	PROT:Q9P2D1	CHD7	T	262	A	T262A	Benign	0	1	75	187
MUT:CHD7:Thr2756Met	PROT:Q9P2D1	CHD7	T	2756	M	T2756M	Likely benign	0	1	75	41
MUT:CHD7:Thr303Ala	PROT:Q9P2D1	CHD7	T	303	A	T303A	Likely benign	0	1	75	228
MUT:CHD7:Thr59Ser	PROT:Q9P2D1	CHD7	T	59	S	T59S	Benign/Likely benign	0	2	75	16
MUT:CHD7:Thr894Ala	PROT:Q9P2D1	CHD7	T	894	A	T894A	Benign/Likely benign	0	2	75	34
MUT:CHD7:Thr942Ala	PROT:Q9P2D1	CHD7	T	942	A	T942A	Benign/Likely benign	0	3	75	8
MUT:CHD7:Trp1031Cys	PROT:Q9P2D1	CHD7	W	1031	C	W1031C	Pathogenic	1	1	75	85
MUT:CHD7:Trp1031Gly	PROT:Q9P2D1	CHD7	W	1031	G	W1031G	Pathogenic	1	1	75	85
MUT:CHD7:Trp1038Arg	PROT:Q9P2D1	CHD7	W	1038	R	W1038R	Likely pathogenic	1	1	75	78
MUT:CHD7:Trp1099Arg	PROT:Q9P2D1	CHD7	W	1099	R	W1099R	Likely pathogenic	1	1	75	17
MUT:CHD7:Tyr1011His	PROT:Q9P2D1	CHD7	Y	1011	H	Y1011H	Likely benign	0	1	75	77
MUT:CHD7:Tyr827Cys	PROT:Q9P2D1	CHD7	Y	827	C	Y827C	Likely benign	0	1	75	41
MUT:CHD7:Val1021Gly	PROT:Q9P2D1	CHD7	V	1021	G	V1021G	Pathogenic	1	1	75	87
MUT:CHD7:Val1043Met	PROT:Q9P2D1	CHD7	V	1043	M	V1043M	Likely benign	0	1	75	73
MUT:CHD7:Val110Ile	PROT:Q9P2D1	CHD7	V	110	I	V110I	Benign/Likely benign	0	1	75	35
MUT:CHD7:Val1208Asp	PROT:Q9P2D1	CHD7	V	1208	D	V1208D	Pathogenic/Likely pathogenic	1	1	75	4
MUT:CHD7:Val1680Ala	PROT:Q9P2D1	CHD7	V	1680	A	V1680A	Benign	0	1	75	45
MUT:CHD7:Val2334Leu	PROT:Q9P2D1	CHD7	V	2334	L	V2334L	Likely benign	0	1	75	15
MUT:CHD7:Val238Leu	PROT:Q9P2D1	CHD7	V	238	L	V238L	Likely benign	0	1	75	163
MUT:CHD7:Val2432Met	PROT:Q9P2D1	CHD7	V	2432	M	V2432M	Likely benign	0	2	75	14
MUT:CHD7:Val2433Ile	PROT:Q9P2D1	CHD7	V	2433	I	V2433I	Likely benign	0	1	75	13
MUT:CHD7:Val2592Ala	PROT:Q9P2D1	CHD7	V	2592	A	V2592A	Likely benign	0	1	75	27
MUT:CHD7:Val2708Ile	PROT:Q9P2D1	CHD7	V	2708	I	V2708I	Likely benign	0	1	75	3
MUT:CHD7:Val2795Met	PROT:Q9P2D1	CHD7	V	2795	M	V2795M	Likely benign	0	1	75	80
MUT:CHD7:Val2809Met	PROT:Q9P2D1	CHD7	V	2809	M	V2809M	Likely benign	0	3	75	94
MUT:CHD7:Val351Ile	PROT:Q9P2D1	CHD7	V	351	I	V351I	Likely benign	0	1	75	206
MUT:CHD7:Val553Leu	PROT:Q9P2D1	CHD7	V	553	L	V553L	Benign	0	1	75	4
MUT:CHD7:Val607Ile	PROT:Q9P2D1	CHD7	V	607	I	V607I	Likely benign	0	1	75	26
MUT:CHD7:Val754Leu	PROT:Q9P2D1	CHD7	V	754	L	V754L	Likely benign	0	1	75	20
MUT:CHEK1:Arg379Gln	PROT:O14757	CHEK1	R	379	Q	R379Q	Pathogenic	1	1	38	14
MUT:CHEK1:Arg420Lys	PROT:O14757	CHEK1	R	420	K	R420K	Pathogenic	1	1	38	3
MUT:CHEK1:Arg442Gln	PROT:O14757	CHEK1	R	442	Q	R442Q	Pathogenic	1	1	38	3
MUT:CHEK1:Ile471Val	PROT:O14757	CHEK1	I	471	V	I471V	Benign	0	1	38	3
MUT:CHL1:Glu1051Asp	PROT:O00533	CHL1	E	1051	D	E1051D	Likely benign	0	1	11	59
MUT:CHL1:Gly760Arg	PROT:O00533	CHL1	G	760	R	G760R	Benign	0	1	11	13
MUT:CHL1:Ile1035Thr	PROT:O00533	CHL1	I	1035	T	I1035T	Likely benign	0	1	11	75
MUT:CHL1:Leu10Val	PROT:O00533	CHL1	L	10	V	L10V	Likely benign	0	1	11	737
MUT:CHL1:Leu17Phe	PROT:O00533	CHL1	L	17	F	L17F	Benign	0	1	11	730
MUT:CHL1:Leu599Phe	PROT:O00533	CHL1	L	599	F	L599F	Likely benign	0	1	11	148
MUT:CHL1:Ser235Leu	PROT:O00533	CHL1	S	235	L	S235L	Benign	0	1	11	512
MUT:CHL1:Ser569Asn	PROT:O00533	CHL1	S	569	N	S569N	Likely benign	0	1	11	178
MUT:CHL1:Tyr52Cys	PROT:O00533	CHL1	Y	52	C	Y52C	Likely benign	0	1	11	695
MUT:CHL1:Val316Ile	PROT:O00533	CHL1	V	316	I	V316I	Benign	0	1	11	431
MUT:CHL1:Val414Ala	PROT:O00533	CHL1	V	414	A	V414A	Likely benign	0	1	11	333
MUT:CHM:Asn601Ser	PROT:P24386	CHM	N	601	S	N601S	Benign	0	1	5	117
MUT:CHM:Asp10Gly	PROT:P24386	CHM	D	10	G	D10G	Benign/Likely benign	0	4	5	212
MUT:CHM:Asp162Asn	PROT:P24386	CHM	D	162	N	D162N	Likely benign	0	1	5	60
MUT:CHM:Asp3Gly	PROT:P24386	CHM	D	3	G	D3G	Benign	0	1	5	219
MUT:CHM:Gln273His	PROT:P24386	CHM	Q	273	H	Q273H	Pathogenic	1	1	5	32
MUT:CHM:His507Arg	PROT:P24386	CHM	H	507	R	H507R	Pathogenic/Likely pathogenic	1	1	5	23
MUT:CHM:Leu550Pro	PROT:P24386	CHM	L	550	P	L550P	Likely pathogenic	1	1	5	66
MUT:CHM:Leu80Phe	PROT:P24386	CHM	L	80	F	L80F	Benign	0	1	5	142
MUT:CHM:Lys292Glu	PROT:P24386	CHM	K	292	E	K292E	Likely pathogenic	1	1	5	13
MUT:CHM:Met149Ile	PROT:P24386	CHM	M	149	I	M149I	Benign	0	1	5	73
MUT:CHM:Met1Ile	PROT:P24386	CHM	M	1	I	M1I	Likely pathogenic	1	1	5	221
MUT:CHM:Met1Val	PROT:P24386	CHM	M	1	V	M1V	Likely pathogenic	1	1	5	221
MUT:CHM:Ser89Cys	PROT:P24386	CHM	S	89	C	S89C	Benign	0	10	5	133
MUT:CHM:Thr207Ala	PROT:P24386	CHM	T	207	A	T207A	Benign	0	1	5	15
MUT:CHM:Thr4Ala	PROT:P24386	CHM	T	4	A	T4A	Likely benign	0	1	5	218
MUT:CHMP1A:Arg54His	PROT:Q9HD42	CHMP1A	R	54	H	R54H	Likely benign	0	1	7	13
MUT:CHMP1A:Glu58Gly	PROT:Q9HD42	CHMP1A	E	58	G	E58G	Likely benign	0	1	7	9
MUT:CHMP1A:Thr11Met	PROT:Q9HD42	CHMP1A	T	11	M	T11M	Likely benign	0	1	7	16
MUT:CHN1:Ala223Val	PROT:P15882	CHN1	A	223	V	A223V	Pathogenic	1	1	3	44
MUT:CHN1:Glu313Lys	PROT:P15882	CHN1	E	313	K	E313K	Pathogenic	1	1	3	46
MUT:CHN1:Gly215Arg	PROT:P15882	CHN1	G	215	R	G215R	Likely pathogenic	1	1	3	52
MUT:CHN1:Gly228Ser	PROT:P15882	CHN1	G	228	S	G228S	Pathogenic	1	1	3	39
MUT:CHN1:Ile126Met	PROT:P15882	CHN1	I	126	M	I126M	Pathogenic	1	1	3	17
MUT:CHN1:Ile369Ser	PROT:P15882	CHN1	I	369	S	I369S	Pathogenic	1	1	3	102
MUT:CHN1:Leu20Phe	PROT:P15882	CHN1	L	20	F	L20F	Pathogenic	1	1	3	123
MUT:CHN1:Pro141Leu	PROT:P15882	CHN1	P	141	L	P141L	Pathogenic	1	1	3	2
MUT:CHN1:Pro252Gln	PROT:P15882	CHN1	P	252	Q	P252Q	Pathogenic	1	1	3	15
MUT:CHN1:Tyr143Cys	PROT:P15882	CHN1	Y	143	C	Y143C	Likely pathogenic	1	1	3	0
MUT:CHN1:Tyr143His	PROT:P15882	CHN1	Y	143	H	Y143H	Pathogenic	1	1	3	0
MUT:CHN1:Tyr221His	PROT:P15882	CHN1	Y	221	H	Y221H	Pathogenic	1	1	3	46
MUT:CHN1:Val146Ile	PROT:P15882	CHN1	V	146	I	V146I	Likely benign	0	1	3	2
MUT:CHN2:Asp336Asn	PROT:P52757	CHN2	D	336	N	D336N	Likely benign	0	1	6	2
MUT:CHN2:Pro438Ser	PROT:P52757	CHN2	P	438	S	P438S	Benign	0	1	6	104
MUT:CHRD:Thr457Ser	PROT:Q9H2X0	CHRD	T	457	S	T457S	Likely benign	0	1	2	366
MUT:CHRM3:Ala452Ser	PROT:P20309	CHRM3	A	452	S	A452S	Likely benign	0	1	7	5
MUT:CHRM3:Gly118Arg	PROT:P20309	CHRM3	G	118	R	G118R	Pathogenic	1	1	7	173
MUT:CHRM3:Lys570Thr	PROT:P20309	CHRM3	K	570	T	K570T	Likely benign	0	1	7	8
MUT:CHRND:Arg336Gln	PROT:Q07001	CHRND	R	336	Q	R336Q	Likely pathogenic	1	2	3	47
MUT:CHRND:Arg43Trp	PROT:Q07001	CHRND	R	43	W	R43W	Pathogenic/Likely pathogenic	1	2	3	5
MUT:CHRND:Asn39Lys	PROT:Q07001	CHRND	N	39	K	N39K	Benign	0	2	3	1
MUT:CHRND:Cys257Arg	PROT:Q07001	CHRND	C	257	R	C257R	Pathogenic/Likely pathogenic	1	2	3	126
MUT:CHRND:Gln288Glu	PROT:Q07001	CHRND	Q	288	E	Q288E	Benign/Likely benign	0	2	3	95
MUT:CHRND:Glu80Lys	PROT:Q07001	CHRND	E	80	K	E80K	Pathogenic	1	1	3	42
MUT:CHRND:Gly204Val	PROT:Q07001	CHRND	G	204	V	G204V	Benign	0	1	3	166
MUT:CHRND:Leu63Pro	PROT:Q07001	CHRND	L	63	P	L63P	Pathogenic	1	1	3	25
MUT:CHRND:Met1Thr	PROT:Q07001	CHRND	M	1	T	M1T	Pathogenic	1	1	3	37
MUT:CHRND:Phe95Leu	PROT:Q07001	CHRND	F	95	L	F95L	Pathogenic	1	1	3	57
MUT:CHRND:Pro271Gln	PROT:Q07001	CHRND	P	271	Q	P271Q	Likely pathogenic	1	1	3	112
MUT:CHRND:Ser289Phe	PROT:Q07001	CHRND	S	289	F	S289F	Likely pathogenic	1	2	3	94
MUT:CHRND:Trp141Cys	PROT:Q07001	CHRND	W	141	C	W141C	Likely pathogenic	1	1	3	103
MUT:CHRNG:Ala149Thr	PROT:P07510	CHRNG	A	149	T	A149T	Benign/Likely benign	0	1	1	136
MUT:CHRNG:Arg239Cys	PROT:P07510	CHRNG	R	239	C	R239C	Pathogenic	1	3	1	46
MUT:CHRNG:Arg405Gln	PROT:P07510	CHRNG	R	405	Q	R405Q	Likely benign	0	1	1	120
MUT:CHRNG:Arg86Cys	PROT:P07510	CHRNG	R	86	C	R86C	Pathogenic/Likely pathogenic	1	3	1	199
MUT:CHRNG:Ile237Lys	PROT:P07510	CHRNG	I	237	K	I237K	Likely pathogenic	1	1	1	48
MUT:CHRNG:Leu265Arg	PROT:P07510	CHRNG	L	265	R	L265R	Likely pathogenic	1	1	1	20
MUT:CHRNG:Pro143Arg	PROT:P07510	CHRNG	P	143	R	P143R	Pathogenic	1	2	1	142
MUT:CHRNG:Pro506Ser	PROT:P07510	CHRNG	P	506	S	P506S	Benign/Likely benign	0	2	1	221
MUT:CHRNG:Pro7Leu	PROT:P07510	CHRNG	P	7	L	P7L	Likely benign	0	1	1	278
MUT:CHRNG:Ser299Thr	PROT:P07510	CHRNG	S	299	T	S299T	Likely pathogenic	1	1	1	14
MUT:CHRNG:Thr370Ala	PROT:P07510	CHRNG	T	370	A	T370A	Likely benign	0	1	1	85
MUT:CHRNG:Thr385Ala	PROT:P07510	CHRNG	T	385	A	T385A	Likely benign	0	1	1	100
MUT:CHRNG:Val107Gly	PROT:P07510	CHRNG	V	107	G	V107G	Likely pathogenic	1	2	1	178
MUT:CHST11:Arg99Gln	PROT:Q9NPF2	CHST11	R	99	Q	R99Q	Likely benign	0	1	3	44
MUT:CHST11:Val289Ile	PROT:Q9NPF2	CHST11	V	289	I	V289I	Likely benign	0	1	3	79
MUT:CHST14:Arg20Trp	PROT:Q8NCH0	CHST14	R	20	W	R20W	Likely benign	0	1	4	66
MUT:CHST14:Arg213Pro	PROT:Q8NCH0	CHST14	R	213	P	R213P	Likely pathogenic	1	2	4	13
MUT:CHST14:Arg274Pro	PROT:Q8NCH0	CHST14	R	274	P	R274P	Pathogenic	1	1	4	29
MUT:CHST14:Arg345Gly	PROT:Q8NCH0	CHST14	R	345	G	R345G	Likely benign	0	1	4	100
MUT:CHST14:Cys289Ser	PROT:Q8NCH0	CHST14	C	289	S	C289S	Pathogenic	1	1	4	44
MUT:CHST14:Glu262Lys	PROT:Q8NCH0	CHST14	E	262	K	E262K	Pathogenic/Likely pathogenic	1	3	4	17
MUT:CHST14:Phe209Ser	PROT:Q8NCH0	CHST14	F	209	S	F209S	Likely pathogenic	1	1	4	17
MUT:CHST14:Pro281Leu	PROT:Q8NCH0	CHST14	P	281	L	P281L	Pathogenic	1	2	4	36
MUT:CHST14:Tyr293Cys	PROT:Q8NCH0	CHST14	Y	293	C	Y293C	Pathogenic/Likely pathogenic	1	2	4	48
MUT:CHST14:Val51Leu	PROT:Q8NCH0	CHST14	V	51	L	V51L	Likely benign	0	1	4	35
MUT:CHST5:Arg50Gln	PROT:Q9GZS9	CHST5	R	50	Q	R50Q	Likely benign	0	1	1	131
MUT:CHST5:Ile246Thr	PROT:Q9GZS9	CHST5	I	246	T	I246T	Likely benign	0	1	1	65
MUT:CHUK:Ile307Val	PROT:O15111	CHUK	I	307	V	I307V	Likely benign	0	1	15	59
MUT:CHUK:Ser126Cys	PROT:O15111	CHUK	S	126	C	S126C	Likely benign	0	3	15	7
MUT:CHUK:Val155Ala	PROT:O15111	CHUK	V	155	A	V155A	Benign/Likely benign	0	1	15	3
MUT:CIAO1:Asp171Gly	PROT:O76071	CIAO1	D	171	G	D171G	Pathogenic	1	1	4	62
MUT:CIAO1:His251Leu	PROT:O76071	CIAO1	H	251	L	H251L	Pathogenic	1	1	4	142
MUT:CIAO1:His302Pro	PROT:O76071	CIAO1	H	302	P	H302P	Likely pathogenic	1	2	4	193
MUT:CIAO1:Pro18Leu	PROT:O76071	CIAO1	P	18	L	P18L	Benign/Likely benign	0	4	4	35
MUT:CIB1:Ala146Thr	PROT:Q99828	CIB1	A	146	T	A146T	Likely benign	0	1	7	4
MUT:CIB1:Ala82Thr	PROT:Q99828	CIB1	A	82	T	A82T	Benign	0	1	7	4
MUT:CIB1:Gln40Pro	PROT:Q99828	CIB1	Q	40	P	Q40P	Benign	0	1	7	24
MUT:CIITA:Ala658Gly	PROT:P33076	CIITA	A	658	G	A658G	Benign/Likely benign	0	1	14	176
MUT:CIITA:Ala691Asp	PROT:P33076	CIITA	A	691	D	A691D	Benign/Likely benign	0	2	14	143
MUT:CIITA:Ala803Val	PROT:P33076	CIITA	A	803	V	A803V	Likely benign	0	1	14	31
MUT:CIITA:Asp592Glu	PROT:P33076	CIITA	D	592	E	D592E	Likely benign	0	1	14	219
MUT:CIITA:Asp684Glu	PROT:P33076	CIITA	D	684	E	D684E	Likely benign	0	1	14	150
MUT:CIITA:Gln900Arg	PROT:P33076	CIITA	Q	900	R	Q900R	Benign	0	1	14	59
MUT:CIITA:Gly174Arg	PROT:P33076	CIITA	G	174	R	G174R	Benign	0	1	14	30
MUT:CIITA:Gly198Ser	PROT:P33076	CIITA	G	198	S	G198S	Likely benign	0	1	14	54
MUT:CIITA:Gly500Ala	PROT:P33076	CIITA	G	500	A	G500A	Benign/Likely benign	0	1	14	127
MUT:CIITA:His238Tyr	PROT:P33076	CIITA	H	238	Y	H238Y	Likely benign	0	1	14	42
MUT:CIITA:Leu45Val	PROT:P33076	CIITA	L	45	V	L45V	Benign/Likely benign	0	1	14	96
MUT:CIITA:Leu477Ile	PROT:P33076	CIITA	L	477	I	L477I	Benign/Likely benign	0	1	14	104
MUT:CIITA:Leu496Phe	PROT:P33076	CIITA	L	496	F	L496F	Likely benign	0	1	14	123
MUT:CIITA:Lys975Arg	PROT:P33076	CIITA	K	975	R	K975R	Benign	0	4	14	16
MUT:CIITA:Phe1011Leu	PROT:P33076	CIITA	F	1011	L	F1011L	Likely benign	0	1	14	39
MUT:CIITA:Pro124Thr	PROT:P33076	CIITA	P	124	T	P124T	Benign	0	2	14	17
MUT:CIITA:Pro231Ser	PROT:P33076	CIITA	P	231	S	P231S	Benign	0	1	14	49
MUT:CIITA:Ser781Leu	PROT:P33076	CIITA	S	781	L	S781L	Benign/Likely benign	0	1	14	53
MUT:CIITA:Thr165Ser	PROT:P33076	CIITA	T	165	S	T165S	Benign/Likely benign	0	2	14	21
MUT:CIITA:Thr596Ala	PROT:P33076	CIITA	T	596	A	T596A	Likely benign	0	1	14	223
MUT:CIITA:Val782Ala	PROT:P33076	CIITA	V	782	A	V782A	Benign/Likely benign	0	1	14	52
MUT:CITED2:Glu234Ala	PROT:Q99967	CITED2	E	234	A	E234A	Likely pathogenic	1	1	2	68
MUT:CITED2:His160Leu	PROT:Q99967	CITED2	H	160	L	H160L	Benign/Likely benign	0	1	2	6
MUT:CIZ1:Ala219Ser	PROT:Q9ULV3	CIZ1	A	219	S	A219S	Likely benign	0	1	29	6
MUT:CIZ1:Ala219Thr	PROT:Q9ULV3	CIZ1	A	219	T	A219T	Benign	0	1	29	6
MUT:CIZ1:Ala239Thr	PROT:Q9ULV3	CIZ1	A	239	T	A239T	Likely benign	0	1	29	5
MUT:CIZ1:Ala451Val	PROT:Q9ULV3	CIZ1	A	451	V	A451V	Benign	0	1	29	71
MUT:CIZ1:Arg310Gln	PROT:Q9ULV3	CIZ1	R	310	Q	R310Q	Benign	0	2	29	15
MUT:CIZ1:Arg417Met	PROT:Q9ULV3	CIZ1	R	417	M	R417M	Likely benign	0	1	29	67
MUT:CIZ1:Arg847Gln	PROT:Q9ULV3	CIZ1	R	847	Q	R847Q	Benign/Likely benign	0	1	29	2
MUT:CIZ1:Gln390His	PROT:Q9ULV3	CIZ1	Q	390	H	Q390H	Benign/Likely benign	0	2	29	40
MUT:CIZ1:Glu370Gly	PROT:Q9ULV3	CIZ1	E	370	G	E370G	Benign	0	1	29	20
MUT:CIZ1:Leu400Gln	PROT:Q9ULV3	CIZ1	L	400	Q	L400Q	Likely benign	0	1	29	50
MUT:CIZ1:Leu400Pro	PROT:Q9ULV3	CIZ1	L	400	P	L400P	Benign	0	1	29	50
MUT:CIZ1:Lys359Glu	PROT:Q9ULV3	CIZ1	K	359	E	K359E	Benign	0	1	29	9
MUT:CIZ1:Ser578Phe	PROT:Q9ULV3	CIZ1	S	578	F	S578F	Benign	0	1	29	0
MUT:CIZ1:Val481Ala	PROT:Q9ULV3	CIZ1	V	481	A	V481A	Likely benign	0	1	29	41
MUT:CIZ1:Val576Ile	PROT:Q9ULV3	CIZ1	V	576	I	V576I	Likely benign	0	1	29	2
MUT:CIZ1:Val638Met	PROT:Q9ULV3	CIZ1	V	638	M	V638M	Benign	0	2	29	10
MUT:CKAP2L:Arg689His	PROT:Q8IYA6	CKAP2L	R	689	H	R689H	Pathogenic	1	1	35	4
MUT:CKAP2L:Asn404Asp	PROT:Q8IYA6	CKAP2L	N	404	D	N404D	Likely benign	0	1	35	12
MUT:CKAP2L:His406Tyr	PROT:Q8IYA6	CKAP2L	H	406	Y	H406Y	Likely benign	0	1	35	14
MUT:CKAP2L:Ile375Val	PROT:Q8IYA6	CKAP2L	I	375	V	I375V	Benign	0	1	35	17
MUT:CKAP2L:Ile74Thr	PROT:Q8IYA6	CKAP2L	I	74	T	I74T	Likely benign	0	1	35	30
MUT:CKAP2L:Leu134Arg	PROT:Q8IYA6	CKAP2L	L	134	R	L134R	Likely benign	0	1	35	3
MUT:CKAP2L:Leu19Phe	PROT:Q8IYA6	CKAP2L	L	19	F	L19F	Benign	0	1	35	85
MUT:CKAP2L:Leu614Ser	PROT:Q8IYA6	CKAP2L	L	614	S	L614S	Benign	0	1	35	21
MUT:CKAP2L:Met1Thr	PROT:Q8IYA6	CKAP2L	M	1	T	M1T	Pathogenic	1	1	35	103
MUT:CKAP2L:Ser129Pro	PROT:Q8IYA6	CKAP2L	S	129	P	S129P	Benign/Likely benign	0	1	35	8
MUT:CKAP2L:Ser213Pro	PROT:Q8IYA6	CKAP2L	S	213	P	S213P	Likely benign	0	1	35	9
MUT:CKAP2L:Ser308Gly	PROT:Q8IYA6	CKAP2L	S	308	G	S308G	Benign/Likely benign	0	1	35	2
MUT:CKAP2L:Ser519Gly	PROT:Q8IYA6	CKAP2L	S	519	G	S519G	Benign	0	5	35	7
MUT:CKAP2L:Tyr204Cys	PROT:Q8IYA6	CKAP2L	Y	204	C	Y204C	Likely benign	0	1	35	0
MUT:CKAP2L:Val328Met	PROT:Q8IYA6	CKAP2L	V	328	M	V328M	Likely benign	0	1	35	11
MUT:CKAP2L:Val368Ile	PROT:Q8IYA6	CKAP2L	V	368	I	V368I	Likely benign	0	1	35	16
MUT:CLASP1:Met748Thr	PROT:Q7Z460	CLASP1	M	748	T	M748T	Likely benign	0	1	43	34
MUT:CLASP1:Pro1287Leu	PROT:Q7Z460	CLASP1	P	1287	L	P1287L	Likely benign	0	1	43	9
MUT:CLASP1:Ser265Thr	PROT:Q7Z460	CLASP1	S	265	T	S265T	Benign	0	1	43	11
MUT:CLASP1:Thr1247Asn	PROT:Q7Z460	CLASP1	T	1247	N	T1247N	Benign	0	1	43	21
MUT:CLCA4:Ser492Gly	PROT:Q14CN2	CLCA4	S	492	G	S492G	Benign	0	2	1	311
MUT:CLCN2:Ala458Gly	PROT:P51788	CLCN2	A	458	G	A458G	Likely benign	0	1	15	149
MUT:CLCN2:Ala500Val	PROT:P51788	CLCN2	A	500	V	A500V	Pathogenic	1	1	15	107
MUT:CLCN2:Arg172Gln	PROT:P51788	CLCN2	R	172	Q	R172Q	Pathogenic	1	1	15	96
MUT:CLCN2:Arg471His	PROT:P51788	CLCN2	R	471	H	R471H	Likely pathogenic	1	3	15	136
MUT:CLCN2:Arg644Cys	PROT:P51788	CLCN2	R	644	C	R644C	Benign/Likely benign	0	2	15	3
MUT:CLCN2:Arg646Gln	PROT:P51788	CLCN2	R	646	Q	R646Q	Benign/Likely benign	0	2	15	5
MUT:CLCN2:Arg688Gln	PROT:P51788	CLCN2	R	688	Q	R688Q	Benign	0	2	15	16
MUT:CLCN2:Arg68His	PROT:P51788	CLCN2	R	68	H	R68H	Benign/Likely benign	0	1	15	8
MUT:CLCN2:Arg725Trp	PROT:P51788	CLCN2	R	725	W	R725W	Benign/Likely benign	0	3	15	1
MUT:CLCN2:Arg747His	PROT:P51788	CLCN2	R	747	H	R747H	Likely benign	0	2	15	4
MUT:CLCN2:Glu178Lys	PROT:P51788	CLCN2	E	178	K	E178K	Likely benign	0	1	15	102
MUT:CLCN2:Glu664Val	PROT:P51788	CLCN2	E	664	V	E664V	Likely benign	0	1	15	23
MUT:CLCN2:Glu718Asp	PROT:P51788	CLCN2	E	718	D	E718D	Benign	0	1	15	1
MUT:CLCN2:Gly24Asp	PROT:P51788	CLCN2	G	24	D	G24D	Pathogenic/Likely pathogenic	1	1	15	4
MUT:CLCN2:Lys608Asn	PROT:P51788	CLCN2	K	608	N	K608N	Likely benign	0	1	15	1
MUT:CLCN2:Met22Lys	PROT:P51788	CLCN2	M	22	K	M22K	Pathogenic	1	1	15	2
MUT:CLCN2:Pro48Arg	PROT:P51788	CLCN2	P	48	R	P48R	Benign/Likely benign	0	1	15	13
MUT:CLCN2:Ser419Gly	PROT:P51788	CLCN2	S	419	G	S419G	Likely benign	0	1	15	188
MUT:CLCN2:Ser865Arg	PROT:P51788	CLCN2	S	865	R	S865R	Pathogenic	1	1	15	0
MUT:CLCN2:Thr517Met	PROT:P51788	CLCN2	T	517	M	T517M	Likely pathogenic	1	1	15	90
MUT:CLCN2:Thr668Ser	PROT:P51788	CLCN2	T	668	S	T668S	Benign	0	1	15	27
MUT:CLCN2:Tyr26Asn	PROT:P51788	CLCN2	Y	26	N	Y26N	Pathogenic	1	1	15	6
MUT:CLCN6:Arg233Leu	PROT:P51797	CLCN6	R	233	L	R233L	Likely benign	0	1	7	9
MUT:CLCN6:Glu198Gly	PROT:P51797	CLCN6	E	198	G	E198G	Benign	0	1	7	26
MUT:CLCN6:Glu200Ala	PROT:P51797	CLCN6	E	200	A	E200A	Pathogenic	1	1	7	24
MUT:CLCN6:Tyr553Cys	PROT:P51797	CLCN6	Y	553	C	Y553C	Pathogenic	1	1	7	95
MUT:CLCN6:Val470Phe	PROT:P51797	CLCN6	V	470	F	V470F	Likely benign	0	2	7	178
MUT:CLCN6:Val94Leu	PROT:P51797	CLCN6	V	94	L	V94L	Likely benign	0	1	7	48
MUT:CLDN14:Arg81His	PROT:O95500	CLDN14	R	81	H	R81H	Pathogenic/Likely pathogenic	1	3	3	146
MUT:CLDN14:Cys64Tyr	PROT:O95500	CLDN14	C	64	Y	C64Y	Likely pathogenic	1	1	3	163
MUT:CLDN14:Gly232Arg	PROT:O95500	CLDN14	G	232	R	G232R	Pathogenic/Likely pathogenic	1	1	3	1
MUT:CLDN14:Thr4Met	PROT:O95500	CLDN14	T	4	M	T4M	Benign/Likely benign	0	1	3	223
MUT:CLDN14:Val85Asp	PROT:O95500	CLDN14	V	85	D	V85D	Pathogenic	1	3	3	142
MUT:CLDN19:Arg200Gln	PROT:Q8N6F1	CLDN19	R	200	Q	R200Q	Benign	0	1	1	144
MUT:CLDN19:Arg81Trp	PROT:Q8N6F1	CLDN19	R	81	W	R81W	Likely pathogenic	1	1	1	25
MUT:CLDN19:Gln57Glu	PROT:Q8N6F1	CLDN19	Q	57	E	Q57E	Pathogenic	1	1	1	1
MUT:CLDN19:Gly130Cys	PROT:Q8N6F1	CLDN19	G	130	C	G130C	Pathogenic	1	1	1	74
MUT:CLDN19:Gly162Cys	PROT:Q8N6F1	CLDN19	G	162	C	G162C	Likely pathogenic	1	1	1	106
MUT:CLDN19:Gly179Arg	PROT:Q8N6F1	CLDN19	G	179	R	G179R	Likely pathogenic	1	1	1	123
MUT:CLDN19:Gly20Asp	PROT:Q8N6F1	CLDN19	G	20	D	G20D	Pathogenic/Likely pathogenic	1	2	1	36
MUT:CLDN19:Gly75Arg	PROT:Q8N6F1	CLDN19	G	75	R	G75R	Likely pathogenic	1	1	1	19
MUT:CLDN19:Gly75Ser	PROT:Q8N6F1	CLDN19	G	75	S	G75S	Pathogenic/Likely pathogenic	1	1	1	19
MUT:CLDN19:Leu131Arg	PROT:Q8N6F1	CLDN19	L	131	R	L131R	Likely pathogenic	1	1	1	75
MUT:CLDN19:Leu13Phe	PROT:Q8N6F1	CLDN19	L	13	F	L13F	Benign/Likely benign	0	1	1	43
MUT:CLDN19:Leu177Arg	PROT:Q8N6F1	CLDN19	L	177	R	L177R	Likely pathogenic	1	1	1	121
MUT:CLDN19:Leu90Arg	PROT:Q8N6F1	CLDN19	L	90	R	L90R	Pathogenic/Likely pathogenic	1	1	1	34
MUT:CLDN19:Leu90Pro	PROT:Q8N6F1	CLDN19	L	90	P	L90P	Pathogenic	1	1	1	34
MUT:CLDN19:Pro28Leu	PROT:Q8N6F1	CLDN19	P	28	L	P28L	Likely pathogenic	1	1	1	28
MUT:CLDN19:Val88Glu	PROT:Q8N6F1	CLDN19	V	88	E	V88E	Likely pathogenic	1	1	1	32
MUT:CLEC7A:Met247Leu	PROT:Q9BXN2	CLEC7A	M	247	L	M247L	Likely benign	0	1	2	87
MUT:CLGN:Lys320Arg	PROT:O14967	CLGN	K	320	R	K320R	Likely pathogenic	1	1	8	130
MUT:CLHC1:Thr559Met	PROT:Q8NHS4	CLHC1	T	559	M	T559M	Likely benign	0	1	1	359
MUT:CLIC4:His74Tyr	PROT:Q9Y696	CLIC4	H	74	Y	H74Y	Likely pathogenic	1	1	16	12
MUT:CLIC5:Ala114Glu	PROT:Q9NZA1	CLIC5	A	114	E	A114E	Benign/Likely benign	0	1	3	81
MUT:CLIC5:Arg79Ser	PROT:Q9NZA1	CLIC5	R	79	S	R79S	Benign/Likely benign	0	1	3	46
MUT:CLIC5:Asp25Asn	PROT:Q9NZA1	CLIC5	D	25	N	D25N	Benign	0	1	3	8
MUT:CLIC5:Glu159Asp	PROT:Q9NZA1	CLIC5	E	159	D	E159D	Benign/Likely benign	0	1	3	123
MUT:CLIC5:Gly170Arg	PROT:Q9NZA1	CLIC5	G	170	R	G170R	Benign/Likely benign	0	1	3	112
MUT:CLIC5:Gly97Asp	PROT:Q9NZA1	CLIC5	G	97	D	G97D	Likely benign	0	1	3	64
MUT:CLIC5:Thr142Ile	PROT:Q9NZA1	CLIC5	T	142	I	T142I	Benign/Likely benign	0	1	3	109
MUT:CLIC5:Thr164Ser	PROT:Q9NZA1	CLIC5	T	164	S	T164S	Benign/Likely benign	0	1	3	118
MUT:CLMN:Arg517His	PROT:Q96JQ2	CLMN	R	517	H	R517H	Benign	0	1	21	68
MUT:CLMN:Glu276Lys	PROT:Q96JQ2	CLMN	E	276	K	E276K	Likely benign	0	1	21	25
MUT:CLMN:Ile900Phe	PROT:Q96JQ2	CLMN	I	900	F	I900F	Benign	0	4	21	5
MUT:CLMN:Pro124Ala	PROT:Q96JQ2	CLMN	P	124	A	P124A	Likely benign	0	1	21	177
MUT:CLMN:Tyr928Cys	PROT:Q96JQ2	CLMN	Y	928	C	Y928C	Likely benign	0	1	21	1
MUT:CLMP:Arg274Gln	PROT:Q9H6B4	CLMP	R	274	Q	R274Q	Pathogenic	1	1	11	12
MUT:CLMP:Pro100Ser	PROT:Q9H6B4	CLMP	P	100	S	P100S	Likely benign	0	1	11	186
MUT:CLMP:Val124Asp	PROT:Q9H6B4	CLMP	V	124	D	V124D	Pathogenic	1	1	11	162
MUT:CLN6:Ala22Ser	PROT:Q9NWW5	CLN6	A	22	S	A22S	Benign/Likely benign	0	1	4	1
MUT:CLN6:Arg103Gln	PROT:Q9NWW5	CLN6	R	103	Q	R103Q	Pathogenic/Likely pathogenic	1	3	4	70
MUT:CLN6:Arg149Cys	PROT:Q9NWW5	CLN6	R	149	C	R149C	Likely pathogenic	1	1	4	116
MUT:CLN6:Arg28Lys	PROT:Q9NWW5	CLN6	R	28	K	R28K	Pathogenic	1	2	4	3
MUT:CLN6:Arg62Cys	PROT:Q9NWW5	CLN6	R	62	C	R62C	Likely pathogenic	1	2	4	29
MUT:CLN6:Arg6Thr	PROT:Q9NWW5	CLN6	R	6	T	R6T	Pathogenic	1	1	4	7
MUT:CLN6:Asp256Glu	PROT:Q9NWW5	CLN6	D	256	E	D256E	Pathogenic/Likely pathogenic	1	2	4	223
MUT:CLN6:Asp256Gly	PROT:Q9NWW5	CLN6	D	256	G	D256G	Pathogenic/Likely pathogenic	1	2	4	223
MUT:CLN6:Glu72Gln	PROT:Q9NWW5	CLN6	E	72	Q	E72Q	Benign/Likely benign	0	4	4	39
MUT:CLN6:Ile117Ser	PROT:Q9NWW5	CLN6	I	117	S	I117S	Pathogenic	1	1	4	84
MUT:CLN6:Leu67Pro	PROT:Q9NWW5	CLN6	L	67	P	L67P	Pathogenic	1	1	4	34
MUT:CLN6:Lys99Asn	PROT:Q9NWW5	CLN6	K	99	N	K99N	Likely pathogenic	1	2	4	66
MUT:CLN6:Met1Ile	PROT:Q9NWW5	CLN6	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	4	12
MUT:CLN6:Met1Leu	PROT:Q9NWW5	CLN6	M	1	L	M1L	Pathogenic	1	1	4	12
MUT:CLN6:Met1Val	PROT:Q9NWW5	CLN6	M	1	V	M1V	Likely pathogenic	1	1	4	12
MUT:CLN6:Met241Thr	PROT:Q9NWW5	CLN6	M	241	T	M241T	Pathogenic/Likely pathogenic	1	2	4	208
MUT:CLN6:Phe238Thr	PROT:Q9NWW5	CLN6	F	238	T	F238T	Pathogenic/Likely pathogenic	1	2	4	205
MUT:CLN6:Phe261Ser	PROT:Q9NWW5	CLN6	F	261	S	F261S	Likely pathogenic	1	1	4	228
MUT:CLN6:Pro159Leu	PROT:Q9NWW5	CLN6	P	159	L	P159L	Pathogenic/Likely pathogenic	1	3	4	126
MUT:CLN6:Pro299His	PROT:Q9NWW5	CLN6	P	299	H	P299H	Likely pathogenic	1	1	4	266
MUT:CLN6:Pro299Leu	PROT:Q9NWW5	CLN6	P	299	L	P299L	Pathogenic	1	3	4	266
MUT:CLN6:Ser257Gly	PROT:Q9NWW5	CLN6	S	257	G	S257G	Benign/Likely benign	0	1	4	224
MUT:CLN6:Thr93Lys	PROT:Q9NWW5	CLN6	T	93	K	T93K	Pathogenic	1	1	4	60
MUT:CLN6:Tyr172His	PROT:Q9NWW5	CLN6	Y	172	H	Y172H	Likely pathogenic	1	1	4	139
MUT:CLN6:Tyr295Cys	PROT:Q9NWW5	CLN6	Y	295	C	Y295C	Likely pathogenic	1	1	4	262
MUT:CLN6:Val273Ala	PROT:Q9NWW5	CLN6	V	273	A	V273A	Likely pathogenic	1	1	4	240
MUT:CLNK:Arg362Cys	PROT:Q7Z7G1	CLNK	R	362	C	R362C	Likely benign	0	1	6	21
MUT:CLNK:Ile242Val	PROT:Q7Z7G1	CLNK	I	242	V	I242V	Likely benign	0	1	6	50
MUT:CLP1:Arg140His	PROT:Q92989	CLP1	R	140	H	R140H	Pathogenic/Likely pathogenic	1	2	10	13
MUT:CLP1:Glu175Gln	PROT:Q92989	CLP1	E	175	Q	E175Q	Likely benign	0	1	10	27
MUT:CLP1:Thr381Ala	PROT:Q92989	CLP1	T	381	A	T381A	Likely benign	0	1	10	25
MUT:CLPB:Ala117Ser	PROT:Q9H078	CLPB	A	117	S	A117S	Benign/Likely benign	0	2	8	17
MUT:CLPB:Ala492Cys	PROT:Q9H078	CLPB	A	492	C	A492C	Likely benign	0	1	8	51
MUT:CLPB:Ala492Gly	PROT:Q9H078	CLPB	A	492	G	A492G	Likely benign	0	1	8	51
MUT:CLPB:Ala492Ser	PROT:Q9H078	CLPB	A	492	S	A492S	Likely benign	0	1	8	51
MUT:CLPB:Ala561Val	PROT:Q9H078	CLPB	A	561	V	A561V	Pathogenic	1	1	8	28
MUT:CLPB:Ala605Lys	PROT:Q9H078	CLPB	A	605	K	A605K	Pathogenic	1	1	8	16
MUT:CLPB:Arg224Gln	PROT:Q9H078	CLPB	R	224	Q	R224Q	Likely benign	0	1	8	61
MUT:CLPB:Arg265Thr	PROT:Q9H078	CLPB	R	265	T	R265T	Benign/Likely benign	0	2	8	48
MUT:CLPB:Arg378Gly	PROT:Q9H078	CLPB	R	378	G	R378G	Pathogenic/Likely pathogenic	1	2	8	48
MUT:CLPB:Arg378Trp	PROT:Q9H078	CLPB	R	378	W	R378W	Likely benign	0	1	8	48
MUT:CLPB:Arg524Gln	PROT:Q9H078	CLPB	R	524	Q	R524Q	Benign/Likely benign	0	2	8	65
MUT:CLPB:Arg531Gly	PROT:Q9H078	CLPB	R	531	G	R531G	Pathogenic	1	1	8	58
MUT:CLPB:Arg599His	PROT:Q9H078	CLPB	R	599	H	R599H	Likely benign	0	1	8	10
MUT:CLPB:Arg665Trp	PROT:Q9H078	CLPB	R	665	W	R665W	Benign/Likely benign	0	2	8	42
MUT:CLPB:Asn675Ser	PROT:Q9H078	CLPB	N	675	S	N675S	Likely benign	0	1	8	52
MUT:CLPB:Asp581Asn	PROT:Q9H078	CLPB	D	581	N	D581N	Likely benign	0	1	8	8
MUT:CLPB:Glu512Val	PROT:Q9H078	CLPB	E	512	V	E512V	Benign	0	2	8	71
MUT:CLPB:Gly221Ser	PROT:Q9H078	CLPB	G	221	S	G221S	Benign/Likely benign	0	1	8	58
MUT:CLPB:Gly530Arg	PROT:Q9H078	CLPB	G	530	R	G530R	Pathogenic	1	1	8	59
MUT:CLPB:Gly616Val	PROT:Q9H078	CLPB	G	616	V	G616V	Pathogenic	1	1	8	7
MUT:CLPB:Gly71Ala	PROT:Q9H078	CLPB	G	71	A	G71A	Likely benign	0	2	8	63
MUT:CLPB:Lys207Glu	PROT:Q9H078	CLPB	K	207	E	K207E	Likely benign	0	1	8	44
MUT:CLPB:Pro397Leu	PROT:Q9H078	CLPB	P	397	L	P397L	Pathogenic	1	1	8	29
MUT:CLPB:Ser223Asn	PROT:Q9H078	CLPB	S	223	N	S223N	Benign/Likely benign	0	1	8	60
MUT:CLPB:Thr358Lys	PROT:Q9H078	CLPB	T	358	K	T358K	Pathogenic	1	1	8	36
MUT:CLPB:Thr676Ala	PROT:Q9H078	CLPB	T	676	A	T676A	Benign/Likely benign	0	1	8	53
MUT:CLPB:Tyr242Cys	PROT:Q9H078	CLPB	Y	242	C	Y242C	Likely pathogenic	1	1	8	71
MUT:CLPB:Tyr587Cys	PROT:Q9H078	CLPB	Y	587	C	Y587C	Pathogenic	1	1	8	2
MUT:CLPX:Gly250Ser	PROT:O76031	CLPX	G	250	S	G250S	Benign/Likely benign	0	1	14	27
MUT:CLPX:Gly298Asp	PROT:O76031	CLPX	G	298	D	G298D	Likely pathogenic	1	1	14	1
MUT:CLPX:Thr46Ile	PROT:O76031	CLPX	T	46	I	T46I	Likely benign	0	1	14	10
MUT:CLTC:Ala1269Pro	PROT:Q00610	CLTC	A	1269	P	A1269P	Likely pathogenic	1	1	72	15
MUT:CLTC:Ala735Val	PROT:Q00610	CLTC	A	735	V	A735V	Likely pathogenic	1	1	72	2
MUT:CLTC:Asp1580Gly	PROT:Q00610	CLTC	D	1580	G	D1580G	Pathogenic	1	1	72	36
MUT:CLTC:Gln173Arg	PROT:Q00610	CLTC	Q	173	R	Q173R	Likely pathogenic	1	1	72	2
MUT:CLTC:Glu1310Lys	PROT:Q00610	CLTC	E	1310	K	E1310K	Likely pathogenic	1	1	72	8
MUT:CLTC:Ile675Val	PROT:Q00610	CLTC	I	675	V	I675V	Pathogenic	1	1	72	56
MUT:CLTC:Leu1047Pro	PROT:Q00610	CLTC	L	1047	P	L1047P	Pathogenic	1	1	72	27
MUT:CLTC:Pro890Leu	PROT:Q00610	CLTC	P	890	L	P890L	Pathogenic/Likely pathogenic	1	1	72	4
MUT:CLTCL1:Arg1046Cys	PROT:P53675	CLTCL1	R	1046	C	R1046C	Benign	0	1	48	12
MUT:CLTCL1:Arg1165Cys	PROT:P53675	CLTCL1	R	1165	C	R1165C	Benign	0	1	48	3
MUT:CLTCL1:Arg481Gln	PROT:P53675	CLTCL1	R	481	Q	R481Q	Likely benign	0	1	48	4
MUT:CLTCL1:Arg945His	PROT:P53675	CLTCL1	R	945	H	R945H	Benign	0	1	48	4
MUT:CLTCL1:Asn1023Ile	PROT:P53675	CLTCL1	N	1023	I	N1023I	Benign	0	13	48	11
MUT:CLTCL1:Asn1195Ser	PROT:P53675	CLTCL1	N	1195	S	N1195S	Benign	0	1	48	11
MUT:CLTCL1:Asn240Ser	PROT:P53675	CLTCL1	N	240	S	N240S	Likely benign	0	1	48	5
MUT:CLTCL1:Glu691Lys	PROT:P53675	CLTCL1	E	691	K	E691K	Benign	0	1	48	112
MUT:CLTCL1:Gly169Asp	PROT:P53675	CLTCL1	G	169	D	G169D	Likely benign	0	1	48	58
MUT:CLTCL1:Ile1394Thr	PROT:P53675	CLTCL1	I	1394	T	I1394T	Benign	0	1	48	2
MUT:CLTCL1:Ile747Leu	PROT:P53675	CLTCL1	I	747	L	I747L	Likely benign	0	1	48	56
MUT:CLTCL1:Leu448Ile	PROT:P53675	CLTCL1	L	448	I	L448I	Benign	0	1	48	2
MUT:CLTCL1:Lys941Arg	PROT:P53675	CLTCL1	K	941	R	K941R	Benign	0	1	48	0
MUT:CLTCL1:Tyr279Cys	PROT:P53675	CLTCL1	Y	279	C	Y279C	Benign	0	1	48	34
MUT:CLUAP1:Ala107Val	PROT:Q96AJ1	CLUAP1	A	107	V	A107V	Benign	0	1	13	4
MUT:CLUAP1:Ala68Ser	PROT:Q96AJ1	CLUAP1	A	68	S	A68S	Benign	0	1	13	17
MUT:CLUAP1:Leu273Phe	PROT:Q96AJ1	CLUAP1	L	273	F	L273F	Pathogenic	1	2	13	11
MUT:CLUAP1:Val196Phe	PROT:Q96AJ1	CLUAP1	V	196	F	V196F	Benign	0	1	13	6
MUT:CMYA5:Ala3467Val	PROT:Q8N3K9	CMYA5	A	3467	V	A3467V	Likely benign	0	1	17	173
MUT:CNDP1:Ile434Val	PROT:Q96KN2	CNDP1	I	434	V	I434V	Benign	0	3	2	7
MUT:CNGA1:Ala559Pro	PROT:P29973	CNGA1	A	559	P	A559P	Likely pathogenic	1	1	1	17
MUT:CNGA1:Ala678Val	PROT:P29973	CNGA1	A	678	V	A678V	Likely benign	0	1	1	136
MUT:CNGA1:Arg267Thr	PROT:P29973	CNGA1	R	267	T	R267T	Likely pathogenic	1	1	1	275
MUT:CNGA1:Asp114Asn	PROT:P29973	CNGA1	D	114	N	D114N	Benign	0	1	1	428
MUT:CNGA1:Asp204Asn	PROT:P29973	CNGA1	D	204	N	D204N	Pathogenic	1	1	1	338
MUT:CNGA1:Asp326Gly	PROT:P29973	CNGA1	D	326	G	D326G	Likely pathogenic	1	1	1	216
MUT:CNGA1:Gly509Arg	PROT:P29973	CNGA1	G	509	R	G509R	Pathogenic	1	2	1	33
MUT:CNGA1:Leu483Arg	PROT:P29973	CNGA1	L	483	R	L483R	Likely pathogenic	1	1	1	59
MUT:CNGA1:Met512Arg	PROT:P29973	CNGA1	M	512	R	M512R	Likely pathogenic	1	1	1	30
MUT:CNGA1:Phe540Cys	PROT:P29973	CNGA1	F	540	C	F540C	Likely pathogenic	1	1	1	2
MUT:CNGA1:Pro365Thr	PROT:P29973	CNGA1	P	365	T	P365T	Pathogenic	1	1	1	177
MUT:CNGA1:Ser316Phe	PROT:P29973	CNGA1	S	316	F	S316F	Pathogenic/Likely pathogenic	1	7	1	226
MUT:CNGA1:Ser348Arg	PROT:P29973	CNGA1	S	348	R	S348R	Pathogenic/Likely pathogenic	1	3	1	194
MUT:CNGB3:Ala457Thr	PROT:Q9NQW8	CNGB3	A	457	T	A457T	Likely benign	0	1	8	88
MUT:CNGB3:Arg203Gln	PROT:Q9NQW8	CNGB3	R	203	Q	R203Q	Benign	0	3	8	3
MUT:CNGB3:Arg239Cys	PROT:Q9NQW8	CNGB3	R	239	C	R239C	Benign	0	1	8	39
MUT:CNGB3:Arg25His	PROT:Q9NQW8	CNGB3	R	25	H	R25H	Likely benign	0	1	8	26
MUT:CNGB3:Arg480Gln	PROT:Q9NQW8	CNGB3	R	480	Q	R480Q	Likely benign	0	2	8	65
MUT:CNGB3:Asn27Ser	PROT:Q9NQW8	CNGB3	N	27	S	N27S	Benign/Likely benign	0	3	8	24
MUT:CNGB3:Asn607Ser	PROT:Q9NQW8	CNGB3	N	607	S	N607S	Likely pathogenic	1	1	8	62
MUT:CNGB3:Asp105Glu	PROT:Q9NQW8	CNGB3	D	105	E	D105E	Likely benign	0	1	8	8
MUT:CNGB3:Asp215His	PROT:Q9NQW8	CNGB3	D	215	H	D215H	Likely pathogenic	1	2	8	15
MUT:CNGB3:Asp261Gly	PROT:Q9NQW8	CNGB3	D	261	G	D261G	Likely pathogenic	1	1	8	61
MUT:CNGB3:Cys234Trp	PROT:Q9NQW8	CNGB3	C	234	W	C234W	Benign	0	3	8	34
MUT:CNGB3:Glu199Lys	PROT:Q9NQW8	CNGB3	E	199	K	E199K	Benign/Likely benign	0	3	8	1
MUT:CNGB3:Glu755Gly	PROT:Q9NQW8	CNGB3	E	755	G	E755G	Benign	0	3	8	68
MUT:CNGB3:Ile307Val	PROT:Q9NQW8	CNGB3	I	307	V	I307V	Benign	0	3	8	107
MUT:CNGB3:Leu150Phe	PROT:Q9NQW8	CNGB3	L	150	F	L150F	Likely benign	0	1	8	16
MUT:CNGB3:Leu584Pro	PROT:Q9NQW8	CNGB3	L	584	P	L584P	Likely pathogenic	1	1	8	39
MUT:CNGB3:Leu628Pro	PROT:Q9NQW8	CNGB3	L	628	P	L628P	Likely pathogenic	1	1	8	49
MUT:CNGB3:Lys193Gln	PROT:Q9NQW8	CNGB3	K	193	Q	K193Q	Likely benign	0	1	8	7
MUT:CNGB3:Met1Ile	PROT:Q9NQW8	CNGB3	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	8	50
MUT:CNGB3:Met1Thr	PROT:Q9NQW8	CNGB3	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	8	50
MUT:CNGB3:Met466Lys	PROT:Q9NQW8	CNGB3	M	466	K	M466K	Likely pathogenic	1	1	8	79
MUT:CNGB3:Met466Thr	PROT:Q9NQW8	CNGB3	M	466	T	M466T	Benign	0	3	8	79
MUT:CNGB3:Pro309Leu	PROT:Q9NQW8	CNGB3	P	309	L	P309L	Pathogenic	1	1	8	109
MUT:CNGB3:Ser435Phe	PROT:Q9NQW8	CNGB3	S	435	F	S435F	Pathogenic	1	1	8	110
MUT:CNGB3:Ser594Thr	PROT:Q9NQW8	CNGB3	S	594	T	S594T	Likely pathogenic	1	1	8	49
MUT:CNGB3:Thr298Pro	PROT:Q9NQW8	CNGB3	T	298	P	T298P	Benign	0	3	8	98
MUT:CNGB3:Tyr469Asp	PROT:Q9NQW8	CNGB3	Y	469	D	Y469D	Benign/Likely benign	0	3	8	76
MUT:CNGB3:Tyr483Asp	PROT:Q9NQW8	CNGB3	Y	483	D	Y483D	Likely pathogenic	1	1	8	62
MUT:CNGB3:Val402Phe	PROT:Q9NQW8	CNGB3	V	402	F	V402F	Likely benign	0	1	8	143
MUT:CNGB3:Val608Glu	PROT:Q9NQW8	CNGB3	V	608	E	V608E	Likely pathogenic	1	1	8	63
MUT:CNGB3:Val763Ala	PROT:Q9NQW8	CNGB3	V	763	A	V763A	Likely benign	0	1	8	76
MUT:CNKSR1:Arg615His	PROT:Q969H4	CNKSR1	R	615	H	R615H	Benign	0	5	12	47
MUT:CNNM2:Ala202Thr	PROT:Q9H8M5	CNNM2	A	202	T	A202T	Benign/Likely benign	0	2	11	211
MUT:CNNM2:Ala92Pro	PROT:Q9H8M5	CNNM2	A	92	P	A92P	Pathogenic	1	1	11	321
MUT:CNNM2:Arg38Gln	PROT:Q9H8M5	CNNM2	R	38	Q	R38Q	Benign	0	1	11	375
MUT:CNNM2:Asp335Asn	PROT:Q9H8M5	CNNM2	D	335	N	D335N	Likely pathogenic	1	1	11	78
MUT:CNNM2:Cys859Tyr	PROT:Q9H8M5	CNNM2	C	859	Y	C859Y	Likely pathogenic	1	1	11	98
MUT:CNNM2:Glu122Lys	PROT:Q9H8M5	CNNM2	E	122	K	E122K	Pathogenic	1	1	11	291
MUT:CNNM2:Glu184Gly	PROT:Q9H8M5	CNNM2	E	184	G	E184G	Likely benign	0	1	11	229
MUT:CNNM2:Glu357Lys	PROT:Q9H8M5	CNNM2	E	357	K	E357K	Pathogenic	1	1	11	56
MUT:CNNM2:Glu431Lys	PROT:Q9H8M5	CNNM2	E	431	K	E431K	Pathogenic	1	1	11	18
MUT:CNNM2:Gly351Arg	PROT:Q9H8M5	CNNM2	G	351	R	G351R	Likely pathogenic	1	1	11	62
MUT:CNNM2:Gly356Glu	PROT:Q9H8M5	CNNM2	G	356	E	G356E	Likely pathogenic	1	1	11	57
MUT:CNNM2:Gly437Glu	PROT:Q9H8M5	CNNM2	G	437	E	G437E	Pathogenic	1	1	11	24
MUT:CNNM2:Ile260Phe	PROT:Q9H8M5	CNNM2	I	260	F	I260F	Likely benign	0	1	11	153
MUT:CNNM2:Leu418Pro	PROT:Q9H8M5	CNNM2	L	418	P	L418P	Pathogenic	1	1	11	5
MUT:CNNM2:Leu48Pro	PROT:Q9H8M5	CNNM2	L	48	P	L48P	Pathogenic	1	1	11	365
MUT:CNNM2:Met383Val	PROT:Q9H8M5	CNNM2	M	383	V	M383V	Pathogenic	1	1	11	30
MUT:CNNM2:Ser186Thr	PROT:Q9H8M5	CNNM2	S	186	T	S186T	Likely benign	0	1	11	227
MUT:CNNM2:Ser269Trp	PROT:Q9H8M5	CNNM2	S	269	W	S269W	Pathogenic/Likely pathogenic	1	1	11	144
MUT:CNNM2:Ser365Phe	PROT:Q9H8M5	CNNM2	S	365	F	S365F	Benign	0	1	11	48
MUT:CNNM2:Thr331Ile	PROT:Q9H8M5	CNNM2	T	331	I	T331I	Likely pathogenic	1	1	11	82
MUT:CNNM2:Thr568Ile	PROT:Q9H8M5	CNNM2	T	568	I	T568I	Pathogenic	1	1	11	26
MUT:CNNM2:Val324Leu	PROT:Q9H8M5	CNNM2	V	324	L	V324L	Pathogenic	1	1	11	89
MUT:CNNM2:Val324Met	PROT:Q9H8M5	CNNM2	V	324	M	V324M	Pathogenic	1	1	11	89
MUT:CNNM4:Arg236Gln	PROT:Q6P4Q7	CNNM4	R	236	Q	R236Q	Pathogenic/Likely pathogenic	1	1	14	100
MUT:CNNM4:Arg407Leu	PROT:Q6P4Q7	CNNM4	R	407	L	R407L	Likely pathogenic	1	1	14	51
MUT:CNNM4:Arg556Pro	PROT:Q6P4Q7	CNNM4	R	556	P	R556P	Likely pathogenic	1	1	14	13
MUT:CNNM4:Asp498Glu	PROT:Q6P4Q7	CNNM4	D	498	E	D498E	Pathogenic	1	1	14	29
MUT:CNNM4:Gly492Asp	PROT:Q6P4Q7	CNNM4	G	492	D	G492D	Pathogenic	1	1	14	23
MUT:CNNM4:His294Tyr	PROT:Q6P4Q7	CNNM4	H	294	Y	H294Y	Likely pathogenic	1	1	14	57
MUT:CNNM4:Leu261Pro	PROT:Q6P4Q7	CNNM4	L	261	P	L261P	Likely pathogenic	1	1	14	90
MUT:CNNM4:Leu316Arg	PROT:Q6P4Q7	CNNM4	L	316	R	L316R	Likely pathogenic	1	1	14	35
MUT:CNNM4:Leu324Pro	PROT:Q6P4Q7	CNNM4	L	324	P	L324P	Pathogenic	1	1	14	27
MUT:CNNM4:Met145Thr	PROT:Q6P4Q7	CNNM4	M	145	T	M145T	Benign/Likely benign	0	2	14	9
MUT:CNNM4:Ser200Tyr	PROT:Q6P4Q7	CNNM4	S	200	Y	S200Y	Pathogenic	1	1	14	64
MUT:CNNM4:Tyr716Cys	PROT:Q6P4Q7	CNNM4	Y	716	C	Y716C	Likely pathogenic	1	1	14	12
MUT:CNNM4:Val475Met	PROT:Q6P4Q7	CNNM4	V	475	M	V475M	Likely pathogenic	1	1	14	6
MUT:CNNM4:Val704Met	PROT:Q6P4Q7	CNNM4	V	704	M	V704M	Likely benign	0	1	14	24
MUT:CNOT1:Ala1441Thr	PROT:A5YKK6	CNOT1	A	1441	T	A1441T	Pathogenic	1	1	32	9
MUT:CNOT1:Ala1480Val	PROT:A5YKK6	CNOT1	A	1480	V	A1480V	Likely benign	0	1	32	48
MUT:CNOT1:Ala615Val	PROT:A5YKK6	CNOT1	A	615	V	A615V	Likely benign	0	1	32	11
MUT:CNOT1:Arg1411Leu	PROT:A5YKK6	CNOT1	R	1411	L	R1411L	Likely pathogenic	1	1	32	7
MUT:CNOT1:Arg299Gln	PROT:A5YKK6	CNOT1	R	299	Q	R299Q	Benign	0	1	32	19
MUT:CNOT1:Arg535Cys	PROT:A5YKK6	CNOT1	R	535	C	R535C	Pathogenic	1	3	32	21
MUT:CNOT1:Arg900Cys	PROT:A5YKK6	CNOT1	R	900	C	R900C	Pathogenic	1	1	32	28
MUT:CNOT1:Asn2204Ser	PROT:A5YKK6	CNOT1	N	2204	S	N2204S	Benign/Likely benign	0	1	32	53
MUT:CNOT1:Asn679Ser	PROT:A5YKK6	CNOT1	N	679	S	N679S	Likely benign	0	1	32	44
MUT:CNOT1:Asp1188Tyr	PROT:A5YKK6	CNOT1	D	1188	Y	D1188Y	Pathogenic	1	1	32	25
MUT:CNOT1:His1212Asp	PROT:A5YKK6	CNOT1	H	1212	D	H1212D	Likely pathogenic	1	1	32	49
MUT:CNOT1:Lys1320Glu	PROT:A5YKK6	CNOT1	K	1320	E	K1320E	Likely benign	0	1	32	10
MUT:CNOT1:Met387Val	PROT:A5YKK6	CNOT1	M	387	V	M387V	Likely benign	0	1	32	15
MUT:CNOT1:Pro2174Ser	PROT:A5YKK6	CNOT1	P	2174	S	P2174S	Likely benign	0	1	32	23
MUT:CNOT1:Val246Leu	PROT:A5YKK6	CNOT1	V	246	L	V246L	Likely benign	0	1	32	15
MUT:CNOT9:Arg227His	PROT:Q92600	CNOT9	R	227	H	R227H	Pathogenic/Likely pathogenic	1	1	4	20
MUT:CNOT9:Arg292Trp	PROT:Q92600	CNOT9	R	292	W	R292W	Pathogenic	1	2	4	85
MUT:CNOT9:Arg46Gly	PROT:Q92600	CNOT9	R	46	G	R46G	Likely pathogenic	1	1	4	2
MUT:CNOT9:Pro131Leu	PROT:Q92600	CNOT9	P	131	L	P131L	Likely pathogenic	1	1	4	76
MUT:CNP:Gly345Asp	PROT:P09543	CNP	G	345	D	G345D	Pathogenic	1	1	14	11
MUT:CNP:Lys20Arg	PROT:P09543	CNP	K	20	R	K20R	Pathogenic	1	1	14	11
MUT:CNP:Lys20Thr	PROT:P09543	CNP	K	20	T	K20T	Pathogenic	1	1	14	11
MUT:CNP:Lys235Asn	PROT:P09543	CNP	K	235	N	K235N	Likely benign	0	1	14	18
MUT:CNP:Ser82Leu	PROT:P09543	CNP	S	82	L	S82L	Pathogenic	1	1	14	4
MUT:CNPY3:Ala220Thr	PROT:Q9BT09	CNPY3	A	220	T	A220T	Likely benign	0	1	4	8
MUT:CNPY3:Gly125Arg	PROT:Q9BT09	CNPY3	G	125	R	G125R	Pathogenic	1	1	4	2
MUT:CNTN1:Arg698Lys	PROT:Q12860	CNTN1	R	698	K	R698K	Likely benign	0	1	3	215
MUT:CNTN1:Arg977Cys	PROT:Q12860	CNTN1	R	977	C	R977C	Benign/Likely benign	0	1	3	5
MUT:CNTN1:Asn338Ser	PROT:Q12860	CNTN1	N	338	S	N338S	Likely benign	0	1	3	575
MUT:CNTN1:Ile516Val	PROT:Q12860	CNTN1	I	516	V	I516V	Likely benign	0	1	3	397
MUT:CNTN1:Ile694Thr	PROT:Q12860	CNTN1	I	694	T	I694T	Likely benign	0	1	3	219
MUT:CNTN1:Leu19Ser	PROT:Q12860	CNTN1	L	19	S	L19S	Likely benign	0	1	3	894
MUT:CNTN1:Leu302Pro	PROT:Q12860	CNTN1	L	302	P	L302P	Likely benign	0	1	3	611
MUT:CNTN1:Leu998Pro	PROT:Q12860	CNTN1	L	998	P	L998P	Likely benign	0	1	3	26
MUT:CNTN1:Lys636Thr	PROT:Q12860	CNTN1	K	636	T	K636T	Likely benign	0	1	3	277
MUT:CNTN1:Met417Ile	PROT:Q12860	CNTN1	M	417	I	M417I	Likely benign	0	1	3	496
MUT:CNTN1:Ser775Asn	PROT:Q12860	CNTN1	S	775	N	S775N	Benign	0	1	3	138
MUT:CNTN1:Thr582Ile	PROT:Q12860	CNTN1	T	582	I	T582I	Likely benign	0	1	3	331
MUT:CNTN1:Val432Met	PROT:Q12860	CNTN1	V	432	M	V432M	Likely benign	0	1	3	481
MUT:CNTN1:Val929Ile	PROT:Q12860	CNTN1	V	929	I	V929I	Benign	0	1	3	15
MUT:CNTN2:Ala145Thr	PROT:Q02246	CNTN2	A	145	T	A145T	Benign	0	1	5	59
MUT:CNTN2:Ala60Thr	PROT:Q02246	CNTN2	A	60	T	A60T	Benign	0	1	5	11
MUT:CNTN2:Arg372Trp	PROT:Q02246	CNTN2	R	372	W	R372W	Likely benign	0	1	5	275
MUT:CNTN2:Arg580Cys	PROT:Q02246	CNTN2	R	580	C	R580C	Likely benign	0	1	5	67
MUT:CNTN2:Arg657Trp	PROT:Q02246	CNTN2	R	657	W	R657W	Benign	0	1	5	10
MUT:CNTN2:Arg850Cys	PROT:Q02246	CNTN2	R	850	C	R850C	Likely benign	0	1	5	136
MUT:CNTN2:Asn659Asp	PROT:Q02246	CNTN2	N	659	D	N659D	Benign	0	1	5	12
MUT:CNTN2:Asp870Asn	PROT:Q02246	CNTN2	D	870	N	D870N	Likely benign	0	1	5	116
MUT:CNTN2:Gly719Arg	PROT:Q02246	CNTN2	G	719	R	G719R	Likely benign	0	2	5	72
MUT:CNTN2:Gly895Ser	PROT:Q02246	CNTN2	G	895	S	G895S	Likely benign	0	1	5	91
MUT:CNTN2:Ile624Met	PROT:Q02246	CNTN2	I	624	M	I624M	Likely benign	0	1	5	23
MUT:CNTN2:Leu437Val	PROT:Q02246	CNTN2	L	437	V	L437V	Benign	0	1	5	210
MUT:CNTN2:Met75Val	PROT:Q02246	CNTN2	M	75	V	M75V	Benign/Likely benign	0	2	5	4
MUT:CNTN2:Met80Val	PROT:Q02246	CNTN2	M	80	V	M80V	Likely benign	0	1	5	6
MUT:CNTN2:Pro366Leu	PROT:Q02246	CNTN2	P	366	L	P366L	Benign	0	1	5	280
MUT:CNTN2:Ser711Leu	PROT:Q02246	CNTN2	S	711	L	S711L	Likely benign	0	1	5	64
MUT:CNTN2:Thr960Met	PROT:Q02246	CNTN2	T	960	M	T960M	Likely benign	0	1	5	26
MUT:CNTN2:Val1024Ile	PROT:Q02246	CNTN2	V	1024	I	V1024I	Benign	0	1	5	37
MUT:CNTN2:Val1029Met	PROT:Q02246	CNTN2	V	1029	M	V1029M	Likely benign	0	1	5	42
MUT:CNTN5:Arg764Gln	PROT:O94779	CNTN5	R	764	Q	R764Q	Likely benign	0	1	3	229
MUT:CNTN5:Gln1027Pro	PROT:O94779	CNTN5	Q	1027	P	Q1027P	Benign	0	1	3	492
MUT:CNTN5:Glu805Asp	PROT:O94779	CNTN5	E	805	D	E805D	Benign	0	1	3	270
MUT:CNTN5:Ile158Met	PROT:O94779	CNTN5	I	158	M	I158M	Benign	0	1	3	48
MUT:CNTN5:Leu790Ile	PROT:O94779	CNTN5	L	790	I	L790I	Benign	0	1	3	255
MUT:CNTN5:Phe110Ser	PROT:O94779	CNTN5	F	110	S	F110S	Likely benign	0	1	3	79
MUT:CNTN5:Pro328Ala	PROT:O94779	CNTN5	P	328	A	P328A	Likely benign	0	1	3	122
MUT:CNTN5:Tyr1041Cys	PROT:O94779	CNTN5	Y	1041	C	Y1041C	Likely benign	0	1	3	506
MUT:CNTN5:Tyr1065Phe	PROT:O94779	CNTN5	Y	1065	F	Y1065F	Benign	0	2	3	530
MUT:CNTN5:Val935Ile	PROT:O94779	CNTN5	V	935	I	V935I	Likely benign	0	1	3	400
MUT:CNTN6:Ala440Ser	PROT:Q9UQ52	CNTN6	A	440	S	A440S	Benign	0	1	1	442
MUT:CNTN6:Arg217Cys	PROT:Q9UQ52	CNTN6	R	217	C	R217C	Likely benign	0	1	1	665
MUT:CNTN6:Glu400Gln	PROT:Q9UQ52	CNTN6	E	400	Q	E400Q	Benign	0	1	1	482
MUT:CNTN6:Ile1024Leu	PROT:Q9UQ52	CNTN6	I	1024	L	I1024L	Benign	0	1	1	142
MUT:CNTN6:Ile529Leu	PROT:Q9UQ52	CNTN6	I	529	L	I529L	Benign	0	1	1	353
MUT:CNTN6:Lys546Arg	PROT:Q9UQ52	CNTN6	K	546	R	K546R	Benign	0	1	1	336
MUT:CNTN6:Met819Ile	PROT:Q9UQ52	CNTN6	M	819	I	M819I	Likely benign	0	1	1	63
MUT:CNTN6:Phe150Ser	PROT:Q9UQ52	CNTN6	F	150	S	F150S	Benign	0	1	1	732
MUT:CNTN6:Ser986Thr	PROT:Q9UQ52	CNTN6	S	986	T	S986T	Likely benign	0	1	1	104
MUT:CNTN6:Thr128Ile	PROT:Q9UQ52	CNTN6	T	128	I	T128I	Likely benign	0	1	1	754
MUT:CNTNAP1:Arg311Gln	PROT:P78357	CNTNAP1	R	311	Q	R311Q	Likely benign	0	1	3	263
MUT:CNTNAP1:Arg526Gln	PROT:P78357	CNTNAP1	R	526	Q	R526Q	Benign/Likely benign	0	1	3	478
MUT:CNTNAP1:Cys323Arg	PROT:P78357	CNTNAP1	C	323	R	C323R	Likely pathogenic	1	1	3	275
MUT:CNTNAP1:Glu1325Asp	PROT:P78357	CNTNAP1	E	1325	D	E1325D	Likely benign	0	1	3	6
MUT:CNTNAP1:Gly349Val	PROT:P78357	CNTNAP1	G	349	V	G349V	Likely pathogenic	1	1	3	301
MUT:CNTNAP1:Leu212Pro	PROT:P78357	CNTNAP1	L	212	P	L212P	Pathogenic	1	1	3	164
MUT:CNTNAP1:Thr815Asn	PROT:P78357	CNTNAP1	T	815	N	T815N	Likely pathogenic	1	1	3	516
MUT:CNTNAP1:Tyr729His	PROT:P78357	CNTNAP1	Y	729	H	Y729H	Likely benign	0	1	3	602
MUT:CNTNAP4:Gln397Arg	PROT:Q9C0A0	CNTNAP4	Q	397	R	Q397R	Likely benign	0	1	5	50
MUT:CNTNAP4:Ile836Phe	PROT:Q9C0A0	CNTNAP4	I	836	F	I836F	Likely benign	0	1	5	42
MUT:CNTNAP4:Val1010Met	PROT:Q9C0A0	CNTNAP4	V	1010	M	V1010M	Likely benign	0	1	5	132
MUT:CNTRL:Gln734Arg	PROT:Q7Z7A1	CNTRL	Q	734	R	Q734R	Benign	0	4	37	12
MUT:CNTRL:Val800Ile	PROT:Q7Z7A1	CNTRL	V	800	I	V800I	Likely benign	0	1	37	31
MUT:COA3:Glu89Lys	PROT:Q9Y2R0	COA3	E	89	K	E89K	Likely benign	0	1	3	17
MUT:COA6:Ala64Gly	PROT:Q5JTJ3	COA6	A	64	G	A64G	Benign	0	1	4	20
MUT:COA6:Ser16Thr	PROT:Q5JTJ3	COA6	S	16	T	S16T	Benign	0	1	4	68
MUT:COA6:Trp89Cys	PROT:Q5JTJ3	COA6	W	89	C	W89C	Pathogenic	1	1	4	4
MUT:COA6:Trp96Arg	PROT:Q5JTJ3	COA6	W	96	R	W96R	Pathogenic	1	1	4	0
MUT:COA7:Arg48Gln	PROT:Q96BR5	COA7	R	48	Q	R48Q	Likely benign	0	1	9	8
MUT:COA7:Asp6Gly	PROT:Q96BR5	COA7	D	6	G	D6G	Likely pathogenic	1	1	9	50
MUT:COA7:Ser149Ile	PROT:Q96BR5	COA7	S	149	I	S149I	Pathogenic	1	1	9	16
MUT:COA7:Tyr137Cys	PROT:Q96BR5	COA7	Y	137	C	Y137C	Pathogenic	1	1	9	4
MUT:COASY:Ala214Val	PROT:Q13057	COASY	A	214	V	A214V	Likely pathogenic	1	2	15	21
MUT:COASY:Arg377Leu	PROT:Q13057	COASY	R	377	L	R377L	Likely pathogenic	1	1	15	2
MUT:COASY:Arg499Cys	PROT:Q13057	COASY	R	499	C	R499C	Pathogenic	1	2	15	8
MUT:COASY:Gln52His	PROT:Q13057	COASY	Q	52	H	Q52H	Benign/Likely benign	0	2	15	24
MUT:COASY:Ile556Val	PROT:Q13057	COASY	I	556	V	I556V	Benign	0	1	15	2
MUT:COASY:Ser55Tyr	PROT:Q13057	COASY	S	55	Y	S55Y	Benign	0	2	15	27
MUT:COASY:Thr173Lys	PROT:Q13057	COASY	T	173	K	T173K	Likely benign	0	2	15	0
MUT:COASY:Tyr349Cys	PROT:Q13057	COASY	Y	349	C	Y349C	Likely benign	0	2	15	19
MUT:COCH:Ala76Thr	PROT:O43405	COCH	A	76	T	A76T	Likely pathogenic	1	1	3	44
MUT:COCH:Asp281Asn	PROT:O43405	COCH	D	281	N	D281N	Benign	0	2	3	157
MUT:COCH:Cys542Arg	PROT:O43405	COCH	C	542	R	C542R	Pathogenic	1	1	3	418
MUT:COCH:Cys542Phe	PROT:O43405	COCH	C	542	F	C542F	Pathogenic	1	3	3	418
MUT:COCH:Cys542Tyr	PROT:O43405	COCH	C	542	Y	C542Y	Pathogenic	1	1	3	418
MUT:COCH:Glu518Gly	PROT:O43405	COCH	E	518	G	E518G	Benign	0	1	3	394
MUT:COCH:Gly87Ala	PROT:O43405	COCH	G	87	A	G87A	Likely pathogenic	1	1	3	33
MUT:COCH:Gly87Glu	PROT:O43405	COCH	G	87	E	G87E	Likely pathogenic	1	1	3	33
MUT:COCH:Ile109Asn	PROT:O43405	COCH	I	109	N	I109N	Pathogenic	1	1	3	11
MUT:COCH:Ile402Val	PROT:O43405	COCH	I	402	V	I402V	Benign/Likely benign	0	2	3	278
MUT:COCH:Leu114Pro	PROT:O43405	COCH	L	114	P	L114P	Pathogenic	1	1	3	6
MUT:COCH:Leu114Val	PROT:O43405	COCH	L	114	V	L114V	Likely pathogenic	1	1	3	6
MUT:COCH:Leu387Phe	PROT:O43405	COCH	L	387	F	L387F	Pathogenic	1	1	3	263
MUT:COCH:Met512Thr	PROT:O43405	COCH	M	512	T	M512T	Pathogenic	1	1	3	388
MUT:COCH:Phe121Ser	PROT:O43405	COCH	F	121	S	F121S	Pathogenic	1	1	3	1
MUT:COCH:Pro516Arg	PROT:O43405	COCH	P	516	R	P516R	Likely pathogenic	1	1	3	392
MUT:COCH:Pro516Gln	PROT:O43405	COCH	P	516	Q	P516Q	Likely pathogenic	1	1	3	392
MUT:COCH:Pro51Gln	PROT:O43405	COCH	P	51	Q	P51Q	Likely pathogenic	1	1	3	69
MUT:COCH:Pro51Ser	PROT:O43405	COCH	P	51	S	P51S	Pathogenic	1	4	3	69
MUT:COCH:Thr352Ser	PROT:O43405	COCH	T	352	S	T352S	Benign	0	2	3	228
MUT:COCH:Trp117Arg	PROT:O43405	COCH	W	117	R	W117R	Pathogenic/Likely pathogenic	1	2	3	3
MUT:COCH:Tyr424Asp	PROT:O43405	COCH	Y	424	D	Y424D	Benign/Likely benign	0	2	3	300
MUT:COCH:Val471Gly	PROT:O43405	COCH	V	471	G	V471G	Likely pathogenic	1	1	3	347
MUT:COCH:Val66Gly	PROT:O43405	COCH	V	66	G	V66G	Pathogenic	1	1	3	54
MUT:COG1:Ala20Pro	PROT:Q8WTW3	COG1	A	20	P	A20P	Benign/Likely benign	0	1	17	9
MUT:COG1:Arg224Cys	PROT:Q8WTW3	COG1	R	224	C	R224C	Likely benign	0	1	17	16
MUT:COG1:Arg404Gln	PROT:Q8WTW3	COG1	R	404	Q	R404Q	Likely benign	0	1	17	38
MUT:COG1:Asn392Ser	PROT:Q8WTW3	COG1	N	392	S	N392S	Benign	0	1	17	50
MUT:COG1:Asn396Ser	PROT:Q8WTW3	COG1	N	396	S	N396S	Likely benign	0	1	17	46
MUT:COG1:Asp205Asn	PROT:Q8WTW3	COG1	D	205	N	D205N	Likely benign	0	1	17	35
MUT:COG1:Glu453Gln	PROT:Q8WTW3	COG1	E	453	Q	E453Q	Benign	0	1	17	6
MUT:COG1:His192Pro	PROT:Q8WTW3	COG1	H	192	P	H192P	Likely benign	0	1	17	25
MUT:COG1:Ile177Val	PROT:Q8WTW3	COG1	I	177	V	I177V	Benign/Likely benign	0	1	17	10
MUT:COG1:Ile328Val	PROT:Q8WTW3	COG1	I	328	V	I328V	Likely benign	0	1	17	12
MUT:COG1:Ser638Arg	PROT:Q8WTW3	COG1	S	638	R	S638R	Likely benign	0	1	17	31
MUT:COG1:Thr350Met	PROT:Q8WTW3	COG1	T	350	M	T350M	Benign/Likely benign	0	3	17	34
MUT:COG1:Tyr744Cys	PROT:Q8WTW3	COG1	Y	744	C	Y744C	Benign	0	1	17	67
MUT:COG1:Val259Leu	PROT:Q8WTW3	COG1	V	259	L	V259L	Benign/Likely benign	0	1	17	19
MUT:COG6:Ala10Thr	PROT:Q9Y2V7	COG6	A	10	T	A10T	Benign	0	2	10	41
MUT:COG6:Asn113Ser	PROT:Q9Y2V7	COG6	N	113	S	N113S	Likely benign	0	1	10	13
MUT:COG6:Asn22Ser	PROT:Q9Y2V7	COG6	N	22	S	N22S	Likely benign	0	1	10	29
MUT:COG6:Asn394Asp	PROT:Q9Y2V7	COG6	N	394	D	N394D	Benign/Likely benign	0	1	10	118
MUT:COG6:Cys32Ser	PROT:Q9Y2V7	COG6	C	32	S	C32S	Benign	0	2	10	19
MUT:COG6:Gly549Val	PROT:Q9Y2V7	COG6	G	549	V	G549V	Pathogenic	1	1	10	99
MUT:COG6:His300Tyr	PROT:Q9Y2V7	COG6	H	300	Y	H300Y	Benign/Likely benign	0	1	10	24
MUT:COG6:Lys382Arg	PROT:Q9Y2V7	COG6	K	382	R	K382R	Likely benign	0	2	10	106
MUT:COG6:Met447Thr	PROT:Q9Y2V7	COG6	M	447	T	M447T	Benign	0	2	10	171
MUT:COG6:Tyr262Cys	PROT:Q9Y2V7	COG6	Y	262	C	Y262C	Likely pathogenic	1	1	10	13
MUT:COG8:Cys513Ser	PROT:Q96MW5	COG8	C	513	S	C513S	Likely benign	0	1	7	240
MUT:COG8:Gly599Arg	PROT:Q96MW5	COG8	G	599	R	G599R	Likely benign	0	1	7	326
MUT:COG8:Ile7Ser	PROT:Q96MW5	COG8	I	7	S	I7S	Likely benign	0	1	7	81
MUT:COG8:Met235Thr	PROT:Q96MW5	COG8	M	235	T	M235T	Benign/Likely benign	0	1	7	11
MUT:COG8:Pro530Leu	PROT:Q96MW5	COG8	P	530	L	P530L	Benign/Likely benign	0	1	7	257
MUT:COG8:Pro531Ser	PROT:Q96MW5	COG8	P	531	S	P531S	Benign/Likely benign	0	1	7	258
MUT:COG8:Pro581Thr	PROT:Q96MW5	COG8	P	581	T	P581T	Benign/Likely benign	0	2	7	308
MUT:COG8:Pro607Leu	PROT:Q96MW5	COG8	P	607	L	P607L	Likely benign	0	1	7	334
MUT:COG8:Thr575Ile	PROT:Q96MW5	COG8	T	575	I	T575I	Benign/Likely benign	0	1	7	302
MUT:COG8:Val193Ala	PROT:Q96MW5	COG8	V	193	A	V193A	Benign/Likely benign	0	1	7	53
MUT:COL10A1:Arg198His	PROT:Q03692	COL10A1	R	198	H	R198H	Benign/Likely benign	0	1	1	425
MUT:COL10A1:Arg258Gln	PROT:Q03692	COL10A1	R	258	Q	R258Q	Benign/Likely benign	0	1	1	365
MUT:COL10A1:Asp128Asn	PROT:Q03692	COL10A1	D	128	N	D128N	Benign/Likely benign	0	2	1	495
MUT:COL10A1:Cys591Arg	PROT:Q03692	COL10A1	C	591	R	C591R	Likely pathogenic	1	1	1	32
MUT:COL10A1:Cys591Gly	PROT:Q03692	COL10A1	C	591	G	C591G	Likely pathogenic	1	1	1	32
MUT:COL10A1:Cys591Phe	PROT:Q03692	COL10A1	C	591	F	C591F	Pathogenic	1	1	1	32
MUT:COL10A1:Cys591Tyr	PROT:Q03692	COL10A1	C	591	Y	C591Y	Likely pathogenic	1	1	1	32
MUT:COL10A1:Gly139Cys	PROT:Q03692	COL10A1	G	139	C	G139C	Likely pathogenic	1	1	1	484
MUT:COL10A1:Gly18Arg	PROT:Q03692	COL10A1	G	18	R	G18R	Pathogenic	1	1	1	605
MUT:COL10A1:Gly18Glu	PROT:Q03692	COL10A1	G	18	E	G18E	Pathogenic	1	1	1	605
MUT:COL10A1:Gly209Ser	PROT:Q03692	COL10A1	G	209	S	G209S	Benign	0	2	1	414
MUT:COL10A1:Gly383Arg	PROT:Q03692	COL10A1	G	383	R	G383R	Benign	0	1	1	240
MUT:COL10A1:Gly545Arg	PROT:Q03692	COL10A1	G	545	R	G545R	Benign/Likely benign	0	1	1	78
MUT:COL10A1:Gly587Arg	PROT:Q03692	COL10A1	G	587	R	G587R	Likely benign	0	1	1	36
MUT:COL10A1:Gly595Glu	PROT:Q03692	COL10A1	G	595	E	G595E	Pathogenic	1	1	1	28
MUT:COL10A1:Gly86Arg	PROT:Q03692	COL10A1	G	86	R	G86R	Likely benign	0	1	1	537
MUT:COL10A1:Leu652Arg	PROT:Q03692	COL10A1	L	652	R	L652R	Likely pathogenic	1	1	1	29
MUT:COL10A1:Leu8Trp	PROT:Q03692	COL10A1	L	8	W	L8W	Benign/Likely benign	0	1	1	615
MUT:COL10A1:Met27Thr	PROT:Q03692	COL10A1	M	27	T	M27T	Benign/Likely benign	0	1	1	596
MUT:COL10A1:Met680Ile	PROT:Q03692	COL10A1	M	680	I	M680I	Benign/Likely benign	0	1	1	57
MUT:COL10A1:Phe554Leu	PROT:Q03692	COL10A1	F	554	L	F554L	Likely pathogenic	1	1	1	69
MUT:COL10A1:Pro394Arg	PROT:Q03692	COL10A1	P	394	R	P394R	Benign	0	1	1	229
MUT:COL10A1:Ser50Arg	PROT:Q03692	COL10A1	S	50	R	S50R	Benign/Likely benign	0	2	1	573
MUT:COL10A1:Ser671Pro	PROT:Q03692	COL10A1	S	671	P	S671P	Pathogenic/Likely pathogenic	1	1	1	48
MUT:COL10A1:Thr590Pro	PROT:Q03692	COL10A1	T	590	P	T590P	Likely pathogenic	1	1	1	33
MUT:COL10A1:Trp651Arg	PROT:Q03692	COL10A1	W	651	R	W651R	Pathogenic	1	1	1	28
MUT:COL10A1:Tyr597Cys	PROT:Q03692	COL10A1	Y	597	C	Y597C	Pathogenic	1	1	1	26
MUT:COL10A1:Tyr597His	PROT:Q03692	COL10A1	Y	597	H	Y597H	Pathogenic/Likely pathogenic	1	1	1	26
MUT:COL10A1:Tyr598Asp	PROT:Q03692	COL10A1	Y	598	D	Y598D	Pathogenic	1	1	1	25
MUT:COL10A1:Tyr615Asp	PROT:Q03692	COL10A1	Y	615	D	Y615D	Likely pathogenic	1	1	1	8
MUT:COL11A2:Ala37Ser	PROT:P13942	COL11A2	A	37	S	A37S	Pathogenic	1	2	2	5
MUT:COL11A2:Arg1034Cys	PROT:P13942	COL11A2	R	1034	C	R1034C	Pathogenic/Likely pathogenic	1	3	2	405
MUT:COL11A2:Arg110Gln	PROT:P13942	COL11A2	R	110	Q	R110Q	Benign/Likely benign	0	2	2	68
MUT:COL11A2:Arg1131Trp	PROT:P13942	COL11A2	R	1131	W	R1131W	Likely benign	0	1	2	308
MUT:COL11A2:Arg118Pro	PROT:P13942	COL11A2	R	118	P	R118P	Benign/Likely benign	0	3	2	76
MUT:COL11A2:Arg1600Gln	PROT:P13942	COL11A2	R	1600	Q	R1600Q	Benign/Likely benign	0	3	2	161
MUT:COL11A2:Arg720Gln	PROT:P13942	COL11A2	R	720	Q	R720Q	Likely benign	0	1	2	678
MUT:COL11A2:Asn1205Lys	PROT:P13942	COL11A2	N	1205	K	N1205K	Benign/Likely benign	0	2	2	234
MUT:COL11A2:Asp1287Gly	PROT:P13942	COL11A2	D	1287	G	D1287G	Benign/Likely benign	0	4	2	152
MUT:COL11A2:Gln1197His	PROT:P13942	COL11A2	Q	1197	H	Q1197H	Likely benign	0	1	2	242
MUT:COL11A2:Gln249Glu	PROT:P13942	COL11A2	Q	249	E	Q249E	Likely benign	0	1	2	207
MUT:COL11A2:Glu1628Asp	PROT:P13942	COL11A2	E	1628	D	E1628D	Benign/Likely benign	0	4	2	189
MUT:COL11A2:Glu276Lys	PROT:P13942	COL11A2	E	276	K	E276K	Benign/Likely benign	0	5	2	234
MUT:COL11A2:Gly1027Glu	PROT:P13942	COL11A2	G	1027	E	G1027E	Likely pathogenic	1	1	2	412
MUT:COL11A2:Gly1114Asp	PROT:P13942	COL11A2	G	1114	D	G1114D	Likely pathogenic	1	1	2	325
MUT:COL11A2:Gly1129Arg	PROT:P13942	COL11A2	G	1129	R	G1129R	Pathogenic/Likely pathogenic	1	1	2	310
MUT:COL11A2:Gly1141Ala	PROT:P13942	COL11A2	G	1141	A	G1141A	Likely pathogenic	1	1	2	298
MUT:COL11A2:Gly1441Glu	PROT:P13942	COL11A2	G	1441	E	G1441E	Pathogenic	1	1	2	2
MUT:COL11A2:Gly1447Arg	PROT:P13942	COL11A2	G	1447	R	G1447R	Likely pathogenic	1	1	2	8
MUT:COL11A2:Gly1477Val	PROT:P13942	COL11A2	G	1477	V	G1477V	Likely pathogenic	1	1	2	38
MUT:COL11A2:Gly1489Ser	PROT:P13942	COL11A2	G	1489	S	G1489S	Pathogenic	1	1	2	50
MUT:COL11A2:Gly1518Ala	PROT:P13942	COL11A2	G	1518	A	G1518A	Likely pathogenic	1	1	2	79
MUT:COL11A2:Gly634Ala	PROT:P13942	COL11A2	G	634	A	G634A	Likely pathogenic	1	1	2	592
MUT:COL11A2:Gly802Val	PROT:P13942	COL11A2	G	802	V	G802V	Likely pathogenic	1	1	2	637
MUT:COL11A2:Gly808Glu	PROT:P13942	COL11A2	G	808	E	G808E	Pathogenic	1	1	2	631
MUT:COL11A2:Pro1077Ser	PROT:P13942	COL11A2	P	1077	S	P1077S	Likely benign	0	1	2	362
MUT:COL11A2:Pro1250Ser	PROT:P13942	COL11A2	P	1250	S	P1250S	Benign	0	1	2	189
MUT:COL11A2:Pro1316Thr	PROT:P13942	COL11A2	P	1316	T	P1316T	Benign/Likely benign	0	2	2	123
MUT:COL11A2:Pro1422Leu	PROT:P13942	COL11A2	P	1422	L	P1422L	Benign/Likely benign	0	2	2	17
MUT:COL11A2:Pro1722Leu	PROT:P13942	COL11A2	P	1722	L	P1722L	Benign/Likely benign	0	3	2	283
MUT:COL11A2:Pro31Ser	PROT:P13942	COL11A2	P	31	S	P31S	Likely benign	0	1	2	11
MUT:COL11A2:Pro779Leu	PROT:P13942	COL11A2	P	779	L	P779L	Benign/Likely benign	0	2	2	660
MUT:COL11A2:Pro888Thr	PROT:P13942	COL11A2	P	888	T	P888T	Pathogenic	1	1	2	551
MUT:COL11A2:Pro894Leu	PROT:P13942	COL11A2	P	894	L	P894L	Benign/Likely benign	0	2	2	545
MUT:COL11A2:Ser1218Leu	PROT:P13942	COL11A2	S	1218	L	S1218L	Likely benign	0	1	2	221
MUT:COL11A2:Ser1325Leu	PROT:P13942	COL11A2	S	1325	L	S1325L	Benign/Likely benign	0	2	2	114
MUT:COL15A1:Ala1148Val	PROT:P39059	COL15A1	A	1148	V	A1148V	Benign	0	1	3	172
MUT:COL15A1:Ala1211Val	PROT:P39059	COL15A1	A	1211	V	A1211V	Benign	0	1	3	235
MUT:COL15A1:Ala442Thr	PROT:P39059	COL15A1	A	442	T	A442T	Benign	0	1	3	348
MUT:COL15A1:Arg163His	PROT:P39059	COL15A1	R	163	H	R163H	Benign	0	1	3	69
MUT:COL15A1:Glu417Lys	PROT:P39059	COL15A1	E	417	K	E417K	Likely benign	0	1	3	323
MUT:COL15A1:Glu506Asp	PROT:P39059	COL15A1	E	506	D	E506D	Benign	0	1	3	412
MUT:COL15A1:Gly1047Asp	PROT:P39059	COL15A1	G	1047	D	G1047D	Likely benign	0	1	3	71
MUT:COL15A1:Gly446Arg	PROT:P39059	COL15A1	G	446	R	G446R	Benign	0	1	3	352
MUT:COL15A1:Gly504Val	PROT:P39059	COL15A1	G	504	V	G504V	Benign	0	1	3	410
MUT:COL15A1:Gly984Ala	PROT:P39059	COL15A1	G	984	A	G984A	Likely benign	0	4	3	8
MUT:COL15A1:Ile1304Met	PROT:P39059	COL15A1	I	1304	M	I1304M	Likely benign	0	1	3	328
MUT:COL15A1:Ile1312Leu	PROT:P39059	COL15A1	I	1312	L	I1312L	Benign	0	1	3	336
MUT:COL15A1:Ile47Val	PROT:P39059	COL15A1	I	47	V	I47V	Benign	0	1	3	39
MUT:COL15A1:Lys1001Arg	PROT:P39059	COL15A1	K	1001	R	K1001R	Benign	0	1	3	25
MUT:COL15A1:Lys989Arg	PROT:P39059	COL15A1	K	989	R	K989R	Benign	0	1	3	13
MUT:COL15A1:Met204Val	PROT:P39059	COL15A1	M	204	V	M204V	Benign	0	1	3	110
MUT:COL15A1:Met422Ile	PROT:P39059	COL15A1	M	422	I	M422I	Benign	0	1	3	328
MUT:COL15A1:Phe851Leu	PROT:P39059	COL15A1	F	851	L	F851L	Benign	0	1	3	125
MUT:COL15A1:Pro531Arg	PROT:P39059	COL15A1	P	531	R	P531R	Benign	0	1	3	437
MUT:COL15A1:Pro645Ser	PROT:P39059	COL15A1	P	645	S	P645S	Benign	0	1	3	331
MUT:COL15A1:Pro660Gln	PROT:P39059	COL15A1	P	660	Q	P660Q	Benign	0	1	3	316
MUT:COL15A1:Pro660Leu	PROT:P39059	COL15A1	P	660	L	P660L	Benign	0	1	3	316
MUT:COL15A1:Pro705Leu	PROT:P39059	COL15A1	P	705	L	P705L	Benign	0	1	3	271
MUT:COL15A1:Pro714Ser	PROT:P39059	COL15A1	P	714	S	P714S	Likely benign	0	1	3	262
MUT:COL15A1:Ser191Pro	PROT:P39059	COL15A1	S	191	P	S191P	Benign	0	1	3	97
MUT:COL15A1:Thr391Met	PROT:P39059	COL15A1	T	391	M	T391M	Benign	0	1	3	297
MUT:COL15A1:Val1332Ile	PROT:P39059	COL15A1	V	1332	I	V1332I	Benign	0	1	3	356
MUT:COL15A1:Val224Met	PROT:P39059	COL15A1	V	224	M	V224M	Benign	0	1	3	130
MUT:COL15A1:Val96Met	PROT:P39059	COL15A1	V	96	M	V96M	Likely benign	0	1	3	2
MUT:COL16A1:Lys398Arg	PROT:Q07092	COL16A1	K	398	R	K398R	Likely benign	0	4	6	48
MUT:COL17A1:Ala1435Val	PROT:Q9UMD9	COL17A1	A	1435	V	A1435V	Benign/Likely benign	0	2	12	135
MUT:COL17A1:Ala530Thr	PROT:Q9UMD9	COL17A1	A	530	T	A530T	Likely benign	0	1	12	12
MUT:COL17A1:Ala531Val	PROT:Q9UMD9	COL17A1	A	531	V	A531V	Benign	0	1	12	11
MUT:COL17A1:Ala533Thr	PROT:Q9UMD9	COL17A1	A	533	T	A533T	Likely benign	0	1	12	9
MUT:COL17A1:Arg1303Gln	PROT:Q9UMD9	COL17A1	R	1303	Q	R1303Q	Pathogenic/Likely pathogenic	1	3	12	3
MUT:COL17A1:Asn1374Asp	PROT:Q9UMD9	COL17A1	N	1374	D	N1374D	Likely benign	0	1	12	74
MUT:COL17A1:Asn899Ser	PROT:Q9UMD9	COL17A1	N	899	S	N899S	Likely benign	0	1	12	259
MUT:COL17A1:Asp1200Tyr	PROT:Q9UMD9	COL17A1	D	1200	Y	D1200Y	Pathogenic	1	1	12	99
MUT:COL17A1:Asp1370Gly	PROT:Q9UMD9	COL17A1	D	1370	G	D1370G	Benign	0	2	12	70
MUT:COL17A1:Asp208Asn	PROT:Q9UMD9	COL17A1	D	208	N	D208N	Likely benign	0	1	12	38
MUT:COL17A1:Asp919Asn	PROT:Q9UMD9	COL17A1	D	919	N	D919N	Benign	0	2	12	279
MUT:COL17A1:Gln787His	PROT:Q9UMD9	COL17A1	Q	787	H	Q787H	Likely benign	0	2	12	147
MUT:COL17A1:Glu1199Gln	PROT:Q9UMD9	COL17A1	E	1199	Q	E1199Q	Likely pathogenic	1	1	12	100
MUT:COL17A1:Gly1345Arg	PROT:Q9UMD9	COL17A1	G	1345	R	G1345R	Benign/Likely benign	0	1	12	45
MUT:COL17A1:Gly189Ala	PROT:Q9UMD9	COL17A1	G	189	A	G189A	Benign	0	1	12	19
MUT:COL17A1:Gly428Ser	PROT:Q9UMD9	COL17A1	G	428	S	G428S	Benign	0	2	12	25
MUT:COL17A1:Gly436Arg	PROT:Q9UMD9	COL17A1	G	436	R	G436R	Benign/Likely benign	0	1	12	33
MUT:COL17A1:Gly436Glu	PROT:Q9UMD9	COL17A1	G	436	E	G436E	Benign/Likely benign	0	2	12	33
MUT:COL17A1:Gly446Ser	PROT:Q9UMD9	COL17A1	G	446	S	G446S	Benign/Likely benign	0	2	12	43
MUT:COL17A1:Gly567Glu	PROT:Q9UMD9	COL17A1	G	567	E	G567E	Pathogenic	1	1	12	23
MUT:COL17A1:Gly633Asp	PROT:Q9UMD9	COL17A1	G	633	D	G633D	Pathogenic	1	1	12	7
MUT:COL17A1:Gly677Asp	PROT:Q9UMD9	COL17A1	G	677	D	G677D	Likely pathogenic	1	1	12	37
MUT:COL17A1:His655Gln	PROT:Q9UMD9	COL17A1	H	655	Q	H655Q	Likely benign	0	1	12	15
MUT:COL17A1:Ile509Val	PROT:Q9UMD9	COL17A1	I	509	V	I509V	Likely benign	0	1	12	33
MUT:COL17A1:Lys667Arg	PROT:Q9UMD9	COL17A1	K	667	R	K667R	Likely benign	0	1	12	27
MUT:COL17A1:Met1311Thr	PROT:Q9UMD9	COL17A1	M	1311	T	M1311T	Likely benign	0	1	12	11
MUT:COL17A1:Met703Val	PROT:Q9UMD9	COL17A1	M	703	V	M703V	Benign	0	2	12	63
MUT:COL17A1:Pro1343Leu	PROT:Q9UMD9	COL17A1	P	1343	L	P1343L	Benign	0	1	12	43
MUT:COL17A1:Ser1029Ala	PROT:Q9UMD9	COL17A1	S	1029	A	S1029A	Benign	0	1	12	270
MUT:COL17A1:Ser515Arg	PROT:Q9UMD9	COL17A1	S	515	R	S515R	Likely benign	0	1	12	27
MUT:COL17A1:Thr210Met	PROT:Q9UMD9	COL17A1	T	210	M	T210M	Benign	0	2	12	40
MUT:COL17A1:Thr420Ala	PROT:Q9UMD9	COL17A1	T	420	A	T420A	Likely benign	0	1	12	17
MUT:COL17A1:Thr4Ala	PROT:Q9UMD9	COL17A1	T	4	A	T4A	Benign	0	1	12	89
MUT:COL17A1:Thr902Ser	PROT:Q9UMD9	COL17A1	T	902	S	T902S	Benign	0	2	12	262
MUT:COL17A1:Thr939Ile	PROT:Q9UMD9	COL17A1	T	939	I	T939I	Pathogenic	1	1	12	299
MUT:COL17A1:Val1177Ile	PROT:Q9UMD9	COL17A1	V	1177	I	V1177I	Likely benign	0	1	12	122
MUT:COL19A1:Ala352Gly	PROT:Q14993	COL19A1	A	352	G	A352G	Benign	0	2	1	271
MUT:COL1A1:Ala1006Ser	PROT:P02452	COL1A1	A	1006	S	A1006S	Likely benign	0	1	26	17
MUT:COL1A1:Ala1042Thr	PROT:P02452	COL1A1	A	1042	T	A1042T	Likely benign	0	2	26	13
MUT:COL1A1:Ala1047Pro	PROT:P02452	COL1A1	A	1047	P	A1047P	Likely benign	0	1	26	18
MUT:COL1A1:Ala1075Thr	PROT:P02452	COL1A1	A	1075	T	A1075T	Benign/Likely benign	0	1	26	46
MUT:COL1A1:Ala1218Thr	PROT:P02452	COL1A1	A	1218	T	A1218T	Pathogenic	1	1	26	18
MUT:COL1A1:Ala1218Val	PROT:P02452	COL1A1	A	1218	V	A1218V	Pathogenic/Likely pathogenic	1	2	26	18
MUT:COL1A1:Ala1387Thr	PROT:P02452	COL1A1	A	1387	T	A1387T	Pathogenic/Likely pathogenic	1	1	26	2
MUT:COL1A1:Ala1387Val	PROT:P02452	COL1A1	A	1387	V	A1387V	Pathogenic	1	1	26	2
MUT:COL1A1:Ala1443Val	PROT:P02452	COL1A1	A	1443	V	A1443V	Pathogenic/Likely pathogenic	1	3	26	13
MUT:COL1A1:Ala195Thr	PROT:P02452	COL1A1	A	195	T	A195T	Likely benign	0	1	26	19
MUT:COL1A1:Ala390Thr	PROT:P02452	COL1A1	A	390	T	A390T	Benign/Likely benign	0	2	26	99
MUT:COL1A1:Ala414Val	PROT:P02452	COL1A1	A	414	V	A414V	Likely benign	0	1	26	91
MUT:COL1A1:Ala471Gly	PROT:P02452	COL1A1	A	471	G	A471G	Benign	0	1	26	34
MUT:COL1A1:Ala595Ser	PROT:P02452	COL1A1	A	595	S	A595S	Benign	0	1	26	49
MUT:COL1A1:Ala606Thr	PROT:P02452	COL1A1	A	606	T	A606T	Likely benign	0	1	26	60
MUT:COL1A1:Ala618Pro	PROT:P02452	COL1A1	A	618	P	A618P	Likely benign	0	1	26	72
MUT:COL1A1:Ala625Thr	PROT:P02452	COL1A1	A	625	T	A625T	Benign/Likely benign	0	6	26	79
MUT:COL1A1:Ala669Pro	PROT:P02452	COL1A1	A	669	P	A669P	Benign	0	1	26	90
MUT:COL1A1:Ala714Val	PROT:P02452	COL1A1	A	714	V	A714V	Benign	0	1	26	45
MUT:COL1A1:Ala844Ser	PROT:P02452	COL1A1	A	844	S	A844S	Likely benign	0	1	26	23
MUT:COL1A1:Ala847Thr	PROT:P02452	COL1A1	A	847	T	A847T	Likely benign	0	1	26	20
MUT:COL1A1:Ala858Thr	PROT:P02452	COL1A1	A	858	T	A858T	Benign	0	1	26	9
MUT:COL1A1:Ala858Val	PROT:P02452	COL1A1	A	858	V	A858V	Likely benign	0	1	26	9
MUT:COL1A1:Ala873Thr	PROT:P02452	COL1A1	A	873	T	A873T	Benign	0	1	26	6
MUT:COL1A1:Ala901Val	PROT:P02452	COL1A1	A	901	V	A901V	Likely benign	0	1	26	12
MUT:COL1A1:Arg1014Cys	PROT:P02452	COL1A1	R	1014	C	R1014C	Pathogenic	1	2	26	9
MUT:COL1A1:Arg120Gln	PROT:P02452	COL1A1	R	120	Q	R120Q	Likely benign	0	1	26	51
MUT:COL1A1:Arg1322Lys	PROT:P02452	COL1A1	R	1322	K	R1322K	Benign/Likely benign	0	2	26	6
MUT:COL1A1:Arg1356Leu	PROT:P02452	COL1A1	R	1356	L	R1356L	Likely pathogenic	1	1	26	29
MUT:COL1A1:Arg187His	PROT:P02452	COL1A1	R	187	H	R187H	Likely benign	0	1	26	11
MUT:COL1A1:Arg220Gln	PROT:P02452	COL1A1	R	220	Q	R220Q	Likely benign	0	1	26	44
MUT:COL1A1:Arg312Cys	PROT:P02452	COL1A1	R	312	C	R312C	Pathogenic/Likely pathogenic	1	5	26	21
MUT:COL1A1:Arg361Gly	PROT:P02452	COL1A1	R	361	G	R361G	Benign/Likely benign	0	1	26	70
MUT:COL1A1:Arg685His	PROT:P02452	COL1A1	R	685	H	R685H	Likely benign	0	1	26	74
MUT:COL1A1:Arg733Cys	PROT:P02452	COL1A1	R	733	C	R733C	Pathogenic	1	1	26	26
MUT:COL1A1:Arg918Cys	PROT:P02452	COL1A1	R	918	C	R918C	Pathogenic	1	1	26	29
MUT:COL1A1:Arg918Gly	PROT:P02452	COL1A1	R	918	G	R918G	Likely pathogenic	1	1	26	29
MUT:COL1A1:Asn1156Lys	PROT:P02452	COL1A1	N	1156	K	N1156K	Likely benign	0	1	26	31
MUT:COL1A1:Asn1283Lys	PROT:P02452	COL1A1	N	1283	K	N1283K	Benign/Likely benign	0	1	26	12
MUT:COL1A1:Asn1394Ser	PROT:P02452	COL1A1	N	1394	S	N1394S	Benign/Likely benign	0	6	26	1
MUT:COL1A1:Asn295Lys	PROT:P02452	COL1A1	N	295	K	N295K	Likely benign	0	1	26	4
MUT:COL1A1:Asp1104Asn	PROT:P02452	COL1A1	D	1104	N	D1104N	Likely benign	0	1	26	21
MUT:COL1A1:Asp1219Asn	PROT:P02452	COL1A1	D	1219	N	D1219N	Pathogenic	1	1	26	17
MUT:COL1A1:Asp1219Gly	PROT:P02452	COL1A1	D	1219	G	D1219G	Pathogenic/Likely pathogenic	1	2	26	17
MUT:COL1A1:Asp1285Glu	PROT:P02452	COL1A1	D	1285	E	D1285E	Pathogenic/Likely pathogenic	1	1	26	14
MUT:COL1A1:Asp1332Gly	PROT:P02452	COL1A1	D	1332	G	D1332G	Likely benign	0	1	26	16
MUT:COL1A1:Asp1347Gly	PROT:P02452	COL1A1	D	1347	G	D1347G	Likely benign	0	1	26	31
MUT:COL1A1:Asp1413Asn	PROT:P02452	COL1A1	D	1413	N	D1413N	Pathogenic/Likely pathogenic	1	3	26	17
MUT:COL1A1:Asp1413Gly	PROT:P02452	COL1A1	D	1413	G	D1413G	Pathogenic	1	1	26	17
MUT:COL1A1:Asp1441His	PROT:P02452	COL1A1	D	1441	H	D1441H	Pathogenic/Likely pathogenic	1	2	26	11
MUT:COL1A1:Asp1441Tyr	PROT:P02452	COL1A1	D	1441	Y	D1441Y	Pathogenic	1	2	26	11
MUT:COL1A1:Asp1446Asn	PROT:P02452	COL1A1	D	1446	N	D1446N	Likely pathogenic	1	1	26	16
MUT:COL1A1:Asp279Asn	PROT:P02452	COL1A1	D	279	N	D279N	Likely benign	0	1	26	8
MUT:COL1A1:Asp51Glu	PROT:P02452	COL1A1	D	51	E	D51E	Likely benign	0	1	26	120
MUT:COL1A1:Asp72Gly	PROT:P02452	COL1A1	D	72	G	D72G	Likely benign	0	1	26	99
MUT:COL1A1:Asp754Glu	PROT:P02452	COL1A1	D	754	E	D754E	Likely benign	0	1	26	5
MUT:COL1A1:Cys1291Gly	PROT:P02452	COL1A1	C	1291	G	C1291G	Likely pathogenic	1	1	26	20
MUT:COL1A1:Cys1299Trp	PROT:P02452	COL1A1	C	1299	W	C1299W	Pathogenic	1	3	26	17
MUT:COL1A1:Cys61Trp	PROT:P02452	COL1A1	C	61	W	C61W	Pathogenic	1	1	26	110
MUT:COL1A1:Cys61Tyr	PROT:P02452	COL1A1	C	61	Y	C61Y	Pathogenic	1	1	26	110
MUT:COL1A1:Cys70Arg	PROT:P02452	COL1A1	C	70	R	C70R	Likely pathogenic	1	1	26	101
MUT:COL1A1:Gln1351Glu	PROT:P02452	COL1A1	Q	1351	E	Q1351E	Likely pathogenic	1	1	26	34
MUT:COL1A1:Gln42His	PROT:P02452	COL1A1	Q	42	H	Q42H	Likely benign	0	1	26	129
MUT:COL1A1:Gln966Arg	PROT:P02452	COL1A1	Q	966	R	Q966R	Likely pathogenic	1	1	26	57
MUT:COL1A1:Glu1021Lys	PROT:P02452	COL1A1	E	1021	K	E1021K	Likely benign	0	1	26	2
MUT:COL1A1:Glu1328Lys	PROT:P02452	COL1A1	E	1328	K	E1328K	Likely benign	0	1	26	12
MUT:COL1A1:Glu1395Lys	PROT:P02452	COL1A1	E	1395	K	E1395K	Likely benign	0	1	26	2
MUT:COL1A1:Glu678Lys	PROT:P02452	COL1A1	E	678	K	E678K	Pathogenic	1	2	26	81
MUT:COL1A1:Gly1001Ser	PROT:P02452	COL1A1	G	1001	S	G1001S	Likely pathogenic	1	1	26	22
MUT:COL1A1:Gly1004Glu	PROT:P02452	COL1A1	G	1004	E	G1004E	Likely pathogenic	1	1	26	19
MUT:COL1A1:Gly1010Ser	PROT:P02452	COL1A1	G	1010	S	G1010S	Likely pathogenic	1	1	26	13
MUT:COL1A1:Gly1013Ala	PROT:P02452	COL1A1	G	1013	A	G1013A	Likely pathogenic	1	1	26	10
MUT:COL1A1:Gly1019Cys	PROT:P02452	COL1A1	G	1019	C	G1019C	Pathogenic	1	1	26	4
MUT:COL1A1:Gly1022Ala	PROT:P02452	COL1A1	G	1022	A	G1022A	Pathogenic	1	1	26	1
MUT:COL1A1:Gly1022Cys	PROT:P02452	COL1A1	G	1022	C	G1022C	Pathogenic	1	1	26	1
MUT:COL1A1:Gly1022Ser	PROT:P02452	COL1A1	G	1022	S	G1022S	Pathogenic	1	2	26	1
MUT:COL1A1:Gly1022Val	PROT:P02452	COL1A1	G	1022	V	G1022V	Pathogenic/Likely pathogenic	1	3	26	1
MUT:COL1A1:Gly1025Arg	PROT:P02452	COL1A1	G	1025	R	G1025R	Pathogenic	1	1	26	2
MUT:COL1A1:Gly1028Ser	PROT:P02452	COL1A1	G	1028	S	G1028S	Pathogenic	1	1	26	1
MUT:COL1A1:Gly1031Asp	PROT:P02452	COL1A1	G	1031	D	G1031D	Likely pathogenic	1	2	26	2
MUT:COL1A1:Gly1031Ser	PROT:P02452	COL1A1	G	1031	S	G1031S	Likely pathogenic	1	1	26	2
MUT:COL1A1:Gly1040Ala	PROT:P02452	COL1A1	G	1040	A	G1040A	Likely pathogenic	1	1	26	11
MUT:COL1A1:Gly1040Ser	PROT:P02452	COL1A1	G	1040	S	G1040S	Pathogenic	1	4	26	11
MUT:COL1A1:Gly1043Ala	PROT:P02452	COL1A1	G	1043	A	G1043A	Likely pathogenic	1	1	26	14
MUT:COL1A1:Gly1046Cys	PROT:P02452	COL1A1	G	1046	C	G1046C	Pathogenic	1	2	26	17
MUT:COL1A1:Gly1049Ser	PROT:P02452	COL1A1	G	1049	S	G1049S	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly1052Ala	PROT:P02452	COL1A1	G	1052	A	G1052A	Pathogenic	1	2	26	23
MUT:COL1A1:Gly1061Ala	PROT:P02452	COL1A1	G	1061	A	G1061A	Likely pathogenic	1	1	26	32
MUT:COL1A1:Gly1061Asp	PROT:P02452	COL1A1	G	1061	D	G1061D	Pathogenic	1	1	26	32
MUT:COL1A1:Gly1061Val	PROT:P02452	COL1A1	G	1061	V	G1061V	Likely pathogenic	1	1	26	32
MUT:COL1A1:Gly1070Asp	PROT:P02452	COL1A1	G	1070	D	G1070D	Likely pathogenic	1	1	26	41
MUT:COL1A1:Gly1076Asp	PROT:P02452	COL1A1	G	1076	D	G1076D	Likely pathogenic	1	1	26	47
MUT:COL1A1:Gly1076Ser	PROT:P02452	COL1A1	G	1076	S	G1076S	Pathogenic/Likely pathogenic	1	4	26	47
MUT:COL1A1:Gly1079Ser	PROT:P02452	COL1A1	G	1079	S	G1079S	Pathogenic	1	2	26	46
MUT:COL1A1:Gly1082Cys	PROT:P02452	COL1A1	G	1082	C	G1082C	Pathogenic	1	1	26	43
MUT:COL1A1:Gly1082Ser	PROT:P02452	COL1A1	G	1082	S	G1082S	Pathogenic	1	1	26	43
MUT:COL1A1:Gly1088Ala	PROT:P02452	COL1A1	G	1088	A	G1088A	Likely pathogenic	1	1	26	37
MUT:COL1A1:Gly1091Ser	PROT:P02452	COL1A1	G	1091	S	G1091S	Pathogenic	1	1	26	34
MUT:COL1A1:Gly1094Ala	PROT:P02452	COL1A1	G	1094	A	G1094A	Likely pathogenic	1	1	26	31
MUT:COL1A1:Gly1106Cys	PROT:P02452	COL1A1	G	1106	C	G1106C	Pathogenic	1	1	26	19
MUT:COL1A1:Gly1130Asp	PROT:P02452	COL1A1	G	1130	D	G1130D	Likely pathogenic	1	1	26	5
MUT:COL1A1:Gly1133Glu	PROT:P02452	COL1A1	G	1133	E	G1133E	Likely pathogenic	1	1	26	8
MUT:COL1A1:Gly1136Ala	PROT:P02452	COL1A1	G	1136	A	G1136A	Likely pathogenic	1	1	26	11
MUT:COL1A1:Gly1142Val	PROT:P02452	COL1A1	G	1142	V	G1142V	Pathogenic	1	1	26	17
MUT:COL1A1:Gly1145Ala	PROT:P02452	COL1A1	G	1145	A	G1145A	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly1145Ser	PROT:P02452	COL1A1	G	1145	S	G1145S	Pathogenic	1	1	26	20
MUT:COL1A1:Gly1145Val	PROT:P02452	COL1A1	G	1145	V	G1145V	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly1148Asp	PROT:P02452	COL1A1	G	1148	D	G1148D	Pathogenic	1	1	26	23
MUT:COL1A1:Gly1151Ser	PROT:P02452	COL1A1	G	1151	S	G1151S	Pathogenic	1	1	26	26
MUT:COL1A1:Gly1151Val	PROT:P02452	COL1A1	G	1151	V	G1151V	Pathogenic	1	1	26	26
MUT:COL1A1:Gly1157Asp	PROT:P02452	COL1A1	G	1157	D	G1157D	Pathogenic	1	1	26	32
MUT:COL1A1:Gly1157Ser	PROT:P02452	COL1A1	G	1157	S	G1157S	Likely pathogenic	1	1	26	32
MUT:COL1A1:Gly115Glu	PROT:P02452	COL1A1	G	115	E	G115E	Likely benign	0	2	26	56
MUT:COL1A1:Gly1163Arg	PROT:P02452	COL1A1	G	1163	R	G1163R	Pathogenic	1	1	26	36
MUT:COL1A1:Gly1166Cys	PROT:P02452	COL1A1	G	1166	C	G1166C	Pathogenic	1	1	26	33
MUT:COL1A1:Gly1166Ser	PROT:P02452	COL1A1	G	1166	S	G1166S	Pathogenic	1	1	26	33
MUT:COL1A1:Gly1169Cys	PROT:P02452	COL1A1	G	1169	C	G1169C	Pathogenic	1	1	26	30
MUT:COL1A1:Gly1169Ser	PROT:P02452	COL1A1	G	1169	S	G1169S	Pathogenic/Likely pathogenic	1	6	26	30
MUT:COL1A1:Gly1169Val	PROT:P02452	COL1A1	G	1169	V	G1169V	Likely pathogenic	1	2	26	30
MUT:COL1A1:Gly1172Arg	PROT:P02452	COL1A1	G	1172	R	G1172R	Likely pathogenic	1	1	26	27
MUT:COL1A1:Gly1181Ser	PROT:P02452	COL1A1	G	1181	S	G1181S	Pathogenic/Likely pathogenic	1	2	26	18
MUT:COL1A1:Gly1184Val	PROT:P02452	COL1A1	G	1184	V	G1184V	Pathogenic	1	1	26	15
MUT:COL1A1:Gly1187Ser	PROT:P02452	COL1A1	G	1187	S	G1187S	Pathogenic	1	1	26	12
MUT:COL1A1:Gly1190Asp	PROT:P02452	COL1A1	G	1190	D	G1190D	Pathogenic	1	1	26	9
MUT:COL1A1:Gly1213Ser	PROT:P02452	COL1A1	G	1213	S	G1213S	Likely benign	0	1	26	14
MUT:COL1A1:Gly1272Val	PROT:P02452	COL1A1	G	1272	V	G1272V	Pathogenic/Likely pathogenic	1	2	26	1
MUT:COL1A1:Gly130Cys	PROT:P02452	COL1A1	G	130	C	G130C	Likely pathogenic	1	1	26	41
MUT:COL1A1:Gly142Glu	PROT:P02452	COL1A1	G	142	E	G142E	Pathogenic	1	1	26	29
MUT:COL1A1:Gly1448Arg	PROT:P02452	COL1A1	G	1448	R	G1448R	Likely pathogenic	1	1	26	18
MUT:COL1A1:Gly1448Asp	PROT:P02452	COL1A1	G	1448	D	G1448D	Pathogenic	1	1	26	18
MUT:COL1A1:Gly1455Val	PROT:P02452	COL1A1	G	1455	V	G1455V	Likely pathogenic	1	1	26	25
MUT:COL1A1:Gly182Cys	PROT:P02452	COL1A1	G	182	C	G182C	Likely pathogenic	1	1	26	6
MUT:COL1A1:Gly182Val	PROT:P02452	COL1A1	G	182	V	G182V	Likely pathogenic	1	1	26	6
MUT:COL1A1:Gly188Asp	PROT:P02452	COL1A1	G	188	D	G188D	Pathogenic/Likely pathogenic	1	2	26	12
MUT:COL1A1:Gly188Cys	PROT:P02452	COL1A1	G	188	C	G188C	Likely pathogenic	1	1	26	12
MUT:COL1A1:Gly188Ser	PROT:P02452	COL1A1	G	188	S	G188S	Likely pathogenic	1	1	26	12
MUT:COL1A1:Gly191Ala	PROT:P02452	COL1A1	G	191	A	G191A	Likely pathogenic	1	2	26	15
MUT:COL1A1:Gly191Asp	PROT:P02452	COL1A1	G	191	D	G191D	Pathogenic	1	2	26	15
MUT:COL1A1:Gly191Ser	PROT:P02452	COL1A1	G	191	S	G191S	Pathogenic	1	1	26	15
MUT:COL1A1:Gly191Val	PROT:P02452	COL1A1	G	191	V	G191V	Likely pathogenic	1	1	26	15
MUT:COL1A1:Gly194Arg	PROT:P02452	COL1A1	G	194	R	G194R	Pathogenic	1	1	26	18
MUT:COL1A1:Gly194Cys	PROT:P02452	COL1A1	G	194	C	G194C	Pathogenic	1	1	26	18
MUT:COL1A1:Gly194Val	PROT:P02452	COL1A1	G	194	V	G194V	Pathogenic	1	1	26	18
MUT:COL1A1:Gly197Ala	PROT:P02452	COL1A1	G	197	A	G197A	Pathogenic	1	1	26	21
MUT:COL1A1:Gly197Arg	PROT:P02452	COL1A1	G	197	R	G197R	Pathogenic	1	1	26	21
MUT:COL1A1:Gly197Asp	PROT:P02452	COL1A1	G	197	D	G197D	Pathogenic	1	2	26	21
MUT:COL1A1:Gly197Cys	PROT:P02452	COL1A1	G	197	C	G197C	Pathogenic	1	1	26	21
MUT:COL1A1:Gly197Val	PROT:P02452	COL1A1	G	197	V	G197V	Pathogenic/Likely pathogenic	1	1	26	21
MUT:COL1A1:Gly200Asp	PROT:P02452	COL1A1	G	200	D	G200D	Pathogenic	1	1	26	24
MUT:COL1A1:Gly200Ser	PROT:P02452	COL1A1	G	200	S	G200S	Pathogenic/Likely pathogenic	1	1	26	24
MUT:COL1A1:Gly200Val	PROT:P02452	COL1A1	G	200	V	G200V	Pathogenic/Likely pathogenic	1	2	26	24
MUT:COL1A1:Gly203Ala	PROT:P02452	COL1A1	G	203	A	G203A	Likely pathogenic	1	1	26	27
MUT:COL1A1:Gly203Arg	PROT:P02452	COL1A1	G	203	R	G203R	Pathogenic	1	1	26	27
MUT:COL1A1:Gly203Asp	PROT:P02452	COL1A1	G	203	D	G203D	Pathogenic/Likely pathogenic	1	3	26	27
MUT:COL1A1:Gly203Ser	PROT:P02452	COL1A1	G	203	S	G203S	Pathogenic	1	1	26	27
MUT:COL1A1:Gly203Val	PROT:P02452	COL1A1	G	203	V	G203V	Pathogenic	1	1	26	27
MUT:COL1A1:Gly206Arg	PROT:P02452	COL1A1	G	206	R	G206R	Pathogenic	1	1	26	30
MUT:COL1A1:Gly206Val	PROT:P02452	COL1A1	G	206	V	G206V	Likely pathogenic	1	1	26	30
MUT:COL1A1:Gly209Ala	PROT:P02452	COL1A1	G	209	A	G209A	Likely pathogenic	1	1	26	33
MUT:COL1A1:Gly209Asp	PROT:P02452	COL1A1	G	209	D	G209D	Pathogenic	1	1	26	33
MUT:COL1A1:Gly209Ser	PROT:P02452	COL1A1	G	209	S	G209S	Likely pathogenic	1	1	26	33
MUT:COL1A1:Gly212Arg	PROT:P02452	COL1A1	G	212	R	G212R	Pathogenic	1	1	26	36
MUT:COL1A1:Gly212Asp	PROT:P02452	COL1A1	G	212	D	G212D	Likely pathogenic	1	1	26	36
MUT:COL1A1:Gly212Glu	PROT:P02452	COL1A1	G	212	E	G212E	Pathogenic/Likely pathogenic	1	1	26	36
MUT:COL1A1:Gly215Asp	PROT:P02452	COL1A1	G	215	D	G215D	Likely pathogenic	1	1	26	39
MUT:COL1A1:Gly215Val	PROT:P02452	COL1A1	G	215	V	G215V	Likely pathogenic	1	1	26	39
MUT:COL1A1:Gly218Arg	PROT:P02452	COL1A1	G	218	R	G218R	Pathogenic	1	1	26	42
MUT:COL1A1:Gly218Cys	PROT:P02452	COL1A1	G	218	C	G218C	Pathogenic	1	1	26	42
MUT:COL1A1:Gly218Val	PROT:P02452	COL1A1	G	218	V	G218V	Pathogenic	1	1	26	42
MUT:COL1A1:Gly221Asp	PROT:P02452	COL1A1	G	221	D	G221D	Pathogenic/Likely pathogenic	1	1	26	45
MUT:COL1A1:Gly221Cys	PROT:P02452	COL1A1	G	221	C	G221C	Pathogenic	1	2	26	45
MUT:COL1A1:Gly221Ser	PROT:P02452	COL1A1	G	221	S	G221S	Pathogenic/Likely pathogenic	1	1	26	45
MUT:COL1A1:Gly224Ala	PROT:P02452	COL1A1	G	224	A	G224A	Pathogenic	1	1	26	47
MUT:COL1A1:Gly224Asp	PROT:P02452	COL1A1	G	224	D	G224D	Pathogenic	1	1	26	47
MUT:COL1A1:Gly224Cys	PROT:P02452	COL1A1	G	224	C	G224C	Pathogenic	1	1	26	47
MUT:COL1A1:Gly224Ser	PROT:P02452	COL1A1	G	224	S	G224S	Pathogenic	1	1	26	47
MUT:COL1A1:Gly224Val	PROT:P02452	COL1A1	G	224	V	G224V	Pathogenic	1	1	26	47
MUT:COL1A1:Gly227Arg	PROT:P02452	COL1A1	G	227	R	G227R	Likely pathogenic	1	1	26	44
MUT:COL1A1:Gly227Glu	PROT:P02452	COL1A1	G	227	E	G227E	Likely pathogenic	1	1	26	44
MUT:COL1A1:Gly22Arg	PROT:P02452	COL1A1	G	22	R	G22R	Pathogenic	1	2	26	149
MUT:COL1A1:Gly22Val	PROT:P02452	COL1A1	G	22	V	G22V	Likely pathogenic	1	1	26	149
MUT:COL1A1:Gly230Glu	PROT:P02452	COL1A1	G	230	E	G230E	Likely pathogenic	1	1	26	41
MUT:COL1A1:Gly233Ala	PROT:P02452	COL1A1	G	233	A	G233A	Likely pathogenic	1	1	26	38
MUT:COL1A1:Gly233Glu	PROT:P02452	COL1A1	G	233	E	G233E	Likely pathogenic	1	1	26	38
MUT:COL1A1:Gly242Arg	PROT:P02452	COL1A1	G	242	R	G242R	Pathogenic	1	1	26	29
MUT:COL1A1:Gly242Asp	PROT:P02452	COL1A1	G	242	D	G242D	Pathogenic	1	1	26	29
MUT:COL1A1:Gly242Val	PROT:P02452	COL1A1	G	242	V	G242V	Pathogenic	1	1	26	29
MUT:COL1A1:Gly245Arg	PROT:P02452	COL1A1	G	245	R	G245R	Likely pathogenic	1	1	26	26
MUT:COL1A1:Gly245Trp	PROT:P02452	COL1A1	G	245	W	G245W	Likely pathogenic	1	2	26	26
MUT:COL1A1:Gly245Val	PROT:P02452	COL1A1	G	245	V	G245V	Pathogenic	1	1	26	26
MUT:COL1A1:Gly248Glu	PROT:P02452	COL1A1	G	248	E	G248E	Pathogenic	1	1	26	23
MUT:COL1A1:Gly251Arg	PROT:P02452	COL1A1	G	251	R	G251R	Pathogenic/Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly251Asp	PROT:P02452	COL1A1	G	251	D	G251D	Pathogenic	1	1	26	20
MUT:COL1A1:Gly254Arg	PROT:P02452	COL1A1	G	254	R	G254R	Pathogenic	1	1	26	17
MUT:COL1A1:Gly254Glu	PROT:P02452	COL1A1	G	254	E	G254E	Pathogenic	1	1	26	17
MUT:COL1A1:Gly254Val	PROT:P02452	COL1A1	G	254	V	G254V	Pathogenic	1	1	26	17
MUT:COL1A1:Gly257Arg	PROT:P02452	COL1A1	G	257	R	G257R	Pathogenic	1	4	26	14
MUT:COL1A1:Gly257Glu	PROT:P02452	COL1A1	G	257	E	G257E	Pathogenic	1	1	26	14
MUT:COL1A1:Gly260Asp	PROT:P02452	COL1A1	G	260	D	G260D	Pathogenic/Likely pathogenic	1	3	26	11
MUT:COL1A1:Gly260Val	PROT:P02452	COL1A1	G	260	V	G260V	Pathogenic	1	1	26	11
MUT:COL1A1:Gly263Arg	PROT:P02452	COL1A1	G	263	R	G263R	Pathogenic	1	2	26	8
MUT:COL1A1:Gly263Glu	PROT:P02452	COL1A1	G	263	E	G263E	Pathogenic	1	1	26	8
MUT:COL1A1:Gly266Arg	PROT:P02452	COL1A1	G	266	R	G266R	Pathogenic	1	1	26	5
MUT:COL1A1:Gly269Ala	PROT:P02452	COL1A1	G	269	A	G269A	Likely pathogenic	1	1	26	2
MUT:COL1A1:Gly269Arg	PROT:P02452	COL1A1	G	269	R	G269R	Likely pathogenic	1	1	26	2
MUT:COL1A1:Gly269Asp	PROT:P02452	COL1A1	G	269	D	G269D	Pathogenic	1	1	26	2
MUT:COL1A1:Gly269Ser	PROT:P02452	COL1A1	G	269	S	G269S	Pathogenic/Likely pathogenic	1	2	26	2
MUT:COL1A1:Gly272Cys	PROT:P02452	COL1A1	G	272	C	G272C	Pathogenic	1	2	26	1
MUT:COL1A1:Gly272Ser	PROT:P02452	COL1A1	G	272	S	G272S	Pathogenic	1	1	26	1
MUT:COL1A1:Gly275Asp	PROT:P02452	COL1A1	G	275	D	G275D	Pathogenic	1	1	26	4
MUT:COL1A1:Gly275Cys	PROT:P02452	COL1A1	G	275	C	G275C	Pathogenic	1	1	26	4
MUT:COL1A1:Gly275Val	PROT:P02452	COL1A1	G	275	V	G275V	Pathogenic	1	1	26	4
MUT:COL1A1:Gly278Val	PROT:P02452	COL1A1	G	278	V	G278V	Pathogenic	1	1	26	7
MUT:COL1A1:Gly281Ser	PROT:P02452	COL1A1	G	281	S	G281S	Pathogenic	1	1	26	10
MUT:COL1A1:Gly284Ala	PROT:P02452	COL1A1	G	284	A	G284A	Pathogenic	1	1	26	7
MUT:COL1A1:Gly284Asp	PROT:P02452	COL1A1	G	284	D	G284D	Likely pathogenic	1	2	26	7
MUT:COL1A1:Gly287Ser	PROT:P02452	COL1A1	G	287	S	G287S	Pathogenic/Likely pathogenic	1	1	26	4
MUT:COL1A1:Gly293Arg	PROT:P02452	COL1A1	G	293	R	G293R	Pathogenic	1	1	26	2
MUT:COL1A1:Gly296Ala	PROT:P02452	COL1A1	G	296	A	G296A	Likely pathogenic	1	1	26	5
MUT:COL1A1:Gly296Arg	PROT:P02452	COL1A1	G	296	R	G296R	Pathogenic	1	1	26	5
MUT:COL1A1:Gly296Val	PROT:P02452	COL1A1	G	296	V	G296V	Likely pathogenic	1	1	26	5
MUT:COL1A1:Gly299Val	PROT:P02452	COL1A1	G	299	V	G299V	Pathogenic	1	1	26	8
MUT:COL1A1:Gly302Arg	PROT:P02452	COL1A1	G	302	R	G302R	Likely pathogenic	1	1	26	11
MUT:COL1A1:Gly302Asp	PROT:P02452	COL1A1	G	302	D	G302D	Likely pathogenic	1	1	26	11
MUT:COL1A1:Gly305Ser	PROT:P02452	COL1A1	G	305	S	G305S	Pathogenic	1	1	26	14
MUT:COL1A1:Gly311Arg	PROT:P02452	COL1A1	G	311	R	G311R	Pathogenic	1	1	26	20
MUT:COL1A1:Gly311Asp	PROT:P02452	COL1A1	G	311	D	G311D	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly311Ser	PROT:P02452	COL1A1	G	311	S	G311S	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly311Val	PROT:P02452	COL1A1	G	311	V	G311V	Pathogenic/Likely pathogenic	1	2	26	20
MUT:COL1A1:Gly314Arg	PROT:P02452	COL1A1	G	314	R	G314R	Pathogenic/Likely pathogenic	1	2	26	23
MUT:COL1A1:Gly320Asp	PROT:P02452	COL1A1	G	320	D	G320D	Pathogenic/Likely pathogenic	1	1	26	29
MUT:COL1A1:Gly320Cys	PROT:P02452	COL1A1	G	320	C	G320C	Likely pathogenic	1	1	26	29
MUT:COL1A1:Gly320Val	PROT:P02452	COL1A1	G	320	V	G320V	Pathogenic	1	1	26	29
MUT:COL1A1:Gly323Arg	PROT:P02452	COL1A1	G	323	R	G323R	Pathogenic	1	1	26	32
MUT:COL1A1:Gly326Arg	PROT:P02452	COL1A1	G	326	R	G326R	Pathogenic/Likely pathogenic	1	2	26	35
MUT:COL1A1:Gly326Asp	PROT:P02452	COL1A1	G	326	D	G326D	Pathogenic	1	1	26	35
MUT:COL1A1:Gly326Ser	PROT:P02452	COL1A1	G	326	S	G326S	Pathogenic	1	1	26	35
MUT:COL1A1:Gly332Arg	PROT:P02452	COL1A1	G	332	R	G332R	Pathogenic	1	5	26	41
MUT:COL1A1:Gly335Ala	PROT:P02452	COL1A1	G	335	A	G335A	Pathogenic	1	1	26	44
MUT:COL1A1:Gly335Asp	PROT:P02452	COL1A1	G	335	D	G335D	Likely pathogenic	1	1	26	44
MUT:COL1A1:Gly335Ser	PROT:P02452	COL1A1	G	335	S	G335S	Pathogenic	1	1	26	44
MUT:COL1A1:Gly335Val	PROT:P02452	COL1A1	G	335	V	G335V	Likely pathogenic	1	1	26	44
MUT:COL1A1:Gly338Arg	PROT:P02452	COL1A1	G	338	R	G338R	Likely pathogenic	1	1	26	47
MUT:COL1A1:Gly338Ser	PROT:P02452	COL1A1	G	338	S	G338S	Pathogenic/Likely pathogenic	1	2	26	47
MUT:COL1A1:Gly338Val	PROT:P02452	COL1A1	G	338	V	G338V	Likely pathogenic	1	1	26	47
MUT:COL1A1:Gly341Arg	PROT:P02452	COL1A1	G	341	R	G341R	Pathogenic	1	1	26	50
MUT:COL1A1:Gly341Cys	PROT:P02452	COL1A1	G	341	C	G341C	Likely pathogenic	1	1	26	50
MUT:COL1A1:Gly350Val	PROT:P02452	COL1A1	G	350	V	G350V	Likely pathogenic	1	1	26	59
MUT:COL1A1:Gly353Arg	PROT:P02452	COL1A1	G	353	R	G353R	Pathogenic	1	1	26	62
MUT:COL1A1:Gly353Cys	PROT:P02452	COL1A1	G	353	C	G353C	Pathogenic	1	2	26	62
MUT:COL1A1:Gly353Ser	PROT:P02452	COL1A1	G	353	S	G353S	Pathogenic	1	2	26	62
MUT:COL1A1:Gly356Cys	PROT:P02452	COL1A1	G	356	C	G356C	Pathogenic	1	1	26	65
MUT:COL1A1:Gly362Ser	PROT:P02452	COL1A1	G	362	S	G362S	Likely pathogenic	1	2	26	71
MUT:COL1A1:Gly365Val	PROT:P02452	COL1A1	G	365	V	G365V	Pathogenic/Likely pathogenic	1	3	26	74
MUT:COL1A1:Gly368Ala	PROT:P02452	COL1A1	G	368	A	G368A	Pathogenic/Likely pathogenic	1	3	26	77
MUT:COL1A1:Gly368Cys	PROT:P02452	COL1A1	G	368	C	G368C	Pathogenic	1	1	26	77
MUT:COL1A1:Gly371Ala	PROT:P02452	COL1A1	G	371	A	G371A	Pathogenic/Likely pathogenic	1	2	26	80
MUT:COL1A1:Gly371Ser	PROT:P02452	COL1A1	G	371	S	G371S	Pathogenic	1	1	26	80
MUT:COL1A1:Gly374Ala	PROT:P02452	COL1A1	G	374	A	G374A	Pathogenic	1	1	26	83
MUT:COL1A1:Gly380Ala	PROT:P02452	COL1A1	G	380	A	G380A	Pathogenic	1	1	26	89
MUT:COL1A1:Gly380Ser	PROT:P02452	COL1A1	G	380	S	G380S	Pathogenic	1	2	26	89
MUT:COL1A1:Gly383Ala	PROT:P02452	COL1A1	G	383	A	G383A	Pathogenic	1	1	26	92
MUT:COL1A1:Gly386Arg	PROT:P02452	COL1A1	G	386	R	G386R	Likely pathogenic	1	1	26	95
MUT:COL1A1:Gly386Glu	PROT:P02452	COL1A1	G	386	E	G386E	Likely pathogenic	1	1	26	95
MUT:COL1A1:Gly395Ala	PROT:P02452	COL1A1	G	395	A	G395A	Pathogenic	1	1	26	104
MUT:COL1A1:Gly398Ala	PROT:P02452	COL1A1	G	398	A	G398A	Pathogenic	1	1	26	107
MUT:COL1A1:Gly398Arg	PROT:P02452	COL1A1	G	398	R	G398R	Pathogenic	1	1	26	107
MUT:COL1A1:Gly398Cys	PROT:P02452	COL1A1	G	398	C	G398C	Pathogenic	1	1	26	107
MUT:COL1A1:Gly401Ser	PROT:P02452	COL1A1	G	401	S	G401S	Pathogenic	1	2	26	104
MUT:COL1A1:Gly407Asp	PROT:P02452	COL1A1	G	407	D	G407D	Pathogenic	1	1	26	98
MUT:COL1A1:Gly410Ala	PROT:P02452	COL1A1	G	410	A	G410A	Likely pathogenic	1	1	26	95
MUT:COL1A1:Gly410Ser	PROT:P02452	COL1A1	G	410	S	G410S	Pathogenic	1	1	26	95
MUT:COL1A1:Gly413Arg	PROT:P02452	COL1A1	G	413	R	G413R	Likely pathogenic	1	1	26	92
MUT:COL1A1:Gly416Asp	PROT:P02452	COL1A1	G	416	D	G416D	Pathogenic	1	1	26	89
MUT:COL1A1:Gly416Val	PROT:P02452	COL1A1	G	416	V	G416V	Pathogenic/Likely pathogenic	1	1	26	89
MUT:COL1A1:Gly425Ser	PROT:P02452	COL1A1	G	425	S	G425S	Pathogenic	1	2	26	80
MUT:COL1A1:Gly431Val	PROT:P02452	COL1A1	G	431	V	G431V	Likely pathogenic	1	1	26	74
MUT:COL1A1:Gly434Ala	PROT:P02452	COL1A1	G	434	A	G434A	Likely pathogenic	1	1	26	71
MUT:COL1A1:Gly434Val	PROT:P02452	COL1A1	G	434	V	G434V	Pathogenic	1	1	26	71
MUT:COL1A1:Gly437Ala	PROT:P02452	COL1A1	G	437	A	G437A	Pathogenic	1	1	26	68
MUT:COL1A1:Gly443Arg	PROT:P02452	COL1A1	G	443	R	G443R	Likely pathogenic	1	1	26	62
MUT:COL1A1:Gly464Arg	PROT:P02452	COL1A1	G	464	R	G464R	Pathogenic	1	2	26	41
MUT:COL1A1:Gly467Ala	PROT:P02452	COL1A1	G	467	A	G467A	Pathogenic	1	1	26	38
MUT:COL1A1:Gly467Arg	PROT:P02452	COL1A1	G	467	R	G467R	Likely pathogenic	1	2	26	38
MUT:COL1A1:Gly467Glu	PROT:P02452	COL1A1	G	467	E	G467E	Likely pathogenic	1	1	26	38
MUT:COL1A1:Gly476Arg	PROT:P02452	COL1A1	G	476	R	G476R	Pathogenic	1	1	26	29
MUT:COL1A1:Gly476Val	PROT:P02452	COL1A1	G	476	V	G476V	Likely pathogenic	1	1	26	29
MUT:COL1A1:Gly482Arg	PROT:P02452	COL1A1	G	482	R	G482R	Pathogenic	1	1	26	23
MUT:COL1A1:Gly485Ala	PROT:P02452	COL1A1	G	485	A	G485A	Pathogenic	1	1	26	20
MUT:COL1A1:Gly485Ser	PROT:P02452	COL1A1	G	485	S	G485S	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly488Ser	PROT:P02452	COL1A1	G	488	S	G488S	Pathogenic/Likely pathogenic	1	2	26	17
MUT:COL1A1:Gly491Ser	PROT:P02452	COL1A1	G	491	S	G491S	Pathogenic	1	2	26	14
MUT:COL1A1:Gly503Ala	PROT:P02452	COL1A1	G	503	A	G503A	Pathogenic	1	1	26	2
MUT:COL1A1:Gly506Asp	PROT:P02452	COL1A1	G	506	D	G506D	Likely pathogenic	1	1	26	1
MUT:COL1A1:Gly515Ala	PROT:P02452	COL1A1	G	515	A	G515A	Likely pathogenic	1	1	26	2
MUT:COL1A1:Gly527Ser	PROT:P02452	COL1A1	G	527	S	G527S	Pathogenic	1	1	26	5
MUT:COL1A1:Gly530Cys	PROT:P02452	COL1A1	G	530	C	G530C	Pathogenic	1	1	26	8
MUT:COL1A1:Gly530Ser	PROT:P02452	COL1A1	G	530	S	G530S	Pathogenic	1	4	26	8
MUT:COL1A1:Gly533Asp	PROT:P02452	COL1A1	G	533	D	G533D	Pathogenic	1	1	26	10
MUT:COL1A1:Gly560Cys	PROT:P02452	COL1A1	G	560	C	G560C	Pathogenic/Likely pathogenic	1	2	26	14
MUT:COL1A1:Gly560Ser	PROT:P02452	COL1A1	G	560	S	G560S	Pathogenic	1	4	26	14
MUT:COL1A1:Gly566Arg	PROT:P02452	COL1A1	G	566	R	G566R	Pathogenic	1	1	26	20
MUT:COL1A1:Gly569Arg	PROT:P02452	COL1A1	G	569	R	G569R	Pathogenic	1	1	26	23
MUT:COL1A1:Gly572Ala	PROT:P02452	COL1A1	G	572	A	G572A	Likely pathogenic	1	1	26	26
MUT:COL1A1:Gly578Asp	PROT:P02452	COL1A1	G	578	D	G578D	Likely pathogenic	1	2	26	32
MUT:COL1A1:Gly578Ser	PROT:P02452	COL1A1	G	578	S	G578S	Likely pathogenic	1	2	26	32
MUT:COL1A1:Gly587Ala	PROT:P02452	COL1A1	G	587	A	G587A	Pathogenic/Likely pathogenic	1	1	26	41
MUT:COL1A1:Gly593Ala	PROT:P02452	COL1A1	G	593	A	G593A	Pathogenic	1	1	26	47
MUT:COL1A1:Gly593Cys	PROT:P02452	COL1A1	G	593	C	G593C	Likely pathogenic	1	1	26	47
MUT:COL1A1:Gly593Ser	PROT:P02452	COL1A1	G	593	S	G593S	Pathogenic/Likely pathogenic	1	2	26	47
MUT:COL1A1:Gly596Ala	PROT:P02452	COL1A1	G	596	A	G596A	Pathogenic	1	1	26	50
MUT:COL1A1:Gly596Arg	PROT:P02452	COL1A1	G	596	R	G596R	Likely pathogenic	1	1	26	50
MUT:COL1A1:Gly611Asp	PROT:P02452	COL1A1	G	611	D	G611D	Likely pathogenic	1	1	26	65
MUT:COL1A1:Gly623Ser	PROT:P02452	COL1A1	G	623	S	G623S	Likely pathogenic	1	1	26	77
MUT:COL1A1:Gly626Asp	PROT:P02452	COL1A1	G	626	D	G626D	Likely pathogenic	1	1	26	80
MUT:COL1A1:Gly626Ser	PROT:P02452	COL1A1	G	626	S	G626S	Pathogenic	1	2	26	80
MUT:COL1A1:Gly629Ala	PROT:P02452	COL1A1	G	629	A	G629A	Likely pathogenic	1	1	26	83
MUT:COL1A1:Gly638Ala	PROT:P02452	COL1A1	G	638	A	G638A	Pathogenic/Likely pathogenic	1	2	26	92
MUT:COL1A1:Gly641Ala	PROT:P02452	COL1A1	G	641	A	G641A	Pathogenic	1	1	26	95
MUT:COL1A1:Gly641Arg	PROT:P02452	COL1A1	G	641	R	G641R	Pathogenic	1	1	26	95
MUT:COL1A1:Gly641Val	PROT:P02452	COL1A1	G	641	V	G641V	Pathogenic	1	1	26	95
MUT:COL1A1:Gly650Arg	PROT:P02452	COL1A1	G	650	R	G650R	Likely pathogenic	1	1	26	104
MUT:COL1A1:Gly665Ala	PROT:P02452	COL1A1	G	665	A	G665A	Likely pathogenic	1	1	26	94
MUT:COL1A1:Gly674Arg	PROT:P02452	COL1A1	G	674	R	G674R	Likely pathogenic	1	1	26	85
MUT:COL1A1:Gly683Ala	PROT:P02452	COL1A1	G	683	A	G683A	Likely pathogenic	1	1	26	76
MUT:COL1A1:Gly686Ser	PROT:P02452	COL1A1	G	686	S	G686S	Likely pathogenic	1	1	26	73
MUT:COL1A1:Gly692Ala	PROT:P02452	COL1A1	G	692	A	G692A	Pathogenic	1	1	26	67
MUT:COL1A1:Gly692Cys	PROT:P02452	COL1A1	G	692	C	G692C	Likely pathogenic	1	1	26	67
MUT:COL1A1:Gly692Ser	PROT:P02452	COL1A1	G	692	S	G692S	Likely pathogenic	1	1	26	67
MUT:COL1A1:Gly701Ser	PROT:P02452	COL1A1	G	701	S	G701S	Pathogenic/Likely pathogenic	1	2	26	58
MUT:COL1A1:Gly704Cys	PROT:P02452	COL1A1	G	704	C	G704C	Pathogenic	1	2	26	55
MUT:COL1A1:Gly704Ser	PROT:P02452	COL1A1	G	704	S	G704S	Pathogenic	1	3	26	55
MUT:COL1A1:Gly719Asp	PROT:P02452	COL1A1	G	719	D	G719D	Pathogenic	1	1	26	40
MUT:COL1A1:Gly719Cys	PROT:P02452	COL1A1	G	719	C	G719C	Pathogenic	1	1	26	40
MUT:COL1A1:Gly719Ser	PROT:P02452	COL1A1	G	719	S	G719S	Pathogenic	1	3	26	40
MUT:COL1A1:Gly722Ser	PROT:P02452	COL1A1	G	722	S	G722S	Pathogenic	1	1	26	37
MUT:COL1A1:Gly731Ala	PROT:P02452	COL1A1	G	731	A	G731A	Pathogenic	1	1	26	28
MUT:COL1A1:Gly731Asp	PROT:P02452	COL1A1	G	731	D	G731D	Likely pathogenic	1	1	26	28
MUT:COL1A1:Gly734Ser	PROT:P02452	COL1A1	G	734	S	G734S	Pathogenic	1	1	26	25
MUT:COL1A1:Gly737Asp	PROT:P02452	COL1A1	G	737	D	G737D	Pathogenic	1	1	26	22
MUT:COL1A1:Gly737Cys	PROT:P02452	COL1A1	G	737	C	G737C	Pathogenic	1	1	26	22
MUT:COL1A1:Gly743Val	PROT:P02452	COL1A1	G	743	V	G743V	Pathogenic	1	1	26	16
MUT:COL1A1:Gly746Ser	PROT:P02452	COL1A1	G	746	S	G746S	Likely pathogenic	1	1	26	13
MUT:COL1A1:Gly749Ser	PROT:P02452	COL1A1	G	749	S	G749S	Pathogenic	1	1	26	10
MUT:COL1A1:Gly752Cys	PROT:P02452	COL1A1	G	752	C	G752C	Likely pathogenic	1	1	26	7
MUT:COL1A1:Gly752Ser	PROT:P02452	COL1A1	G	752	S	G752S	Likely pathogenic	1	1	26	7
MUT:COL1A1:Gly761Asp	PROT:P02452	COL1A1	G	761	D	G761D	Likely pathogenic	1	1	26	2
MUT:COL1A1:Gly764Ala	PROT:P02452	COL1A1	G	764	A	G764A	Likely pathogenic	1	1	26	5
MUT:COL1A1:Gly764Val	PROT:P02452	COL1A1	G	764	V	G764V	Pathogenic	1	1	26	5
MUT:COL1A1:Gly767Ser	PROT:P02452	COL1A1	G	767	S	G767S	Pathogenic	1	3	26	8
MUT:COL1A1:Gly773Ser	PROT:P02452	COL1A1	G	773	S	G773S	Pathogenic	1	1	26	14
MUT:COL1A1:Gly779Ser	PROT:P02452	COL1A1	G	779	S	G779S	Pathogenic	1	1	26	20
MUT:COL1A1:Gly779Val	PROT:P02452	COL1A1	G	779	V	G779V	Likely pathogenic	1	1	26	20
MUT:COL1A1:Gly785Arg	PROT:P02452	COL1A1	G	785	R	G785R	Pathogenic	1	1	26	26
MUT:COL1A1:Gly788Ser	PROT:P02452	COL1A1	G	788	S	G788S	Pathogenic	1	2	26	29
MUT:COL1A1:Gly791Ala	PROT:P02452	COL1A1	G	791	A	G791A	Pathogenic	1	1	26	32
MUT:COL1A1:Gly803Ser	PROT:P02452	COL1A1	G	803	S	G803S	Pathogenic	1	1	26	44
MUT:COL1A1:Gly812Ser	PROT:P02452	COL1A1	G	812	S	G812S	Pathogenic/Likely pathogenic	1	2	26	53
MUT:COL1A1:Gly815Ala	PROT:P02452	COL1A1	G	815	A	G815A	Pathogenic	1	2	26	52
MUT:COL1A1:Gly815Asp	PROT:P02452	COL1A1	G	815	D	G815D	Pathogenic	1	1	26	52
MUT:COL1A1:Gly815Val	PROT:P02452	COL1A1	G	815	V	G815V	Pathogenic	1	1	26	52
MUT:COL1A1:Gly818Ser	PROT:P02452	COL1A1	G	818	S	G818S	Pathogenic/Likely pathogenic	1	2	26	49
MUT:COL1A1:Gly821Ser	PROT:P02452	COL1A1	G	821	S	G821S	Pathogenic	1	2	26	46
MUT:COL1A1:Gly830Asp	PROT:P02452	COL1A1	G	830	D	G830D	Likely pathogenic	1	2	26	37
MUT:COL1A1:Gly836Asp	PROT:P02452	COL1A1	G	836	D	G836D	Likely pathogenic	1	1	26	31
MUT:COL1A1:Gly839Cys	PROT:P02452	COL1A1	G	839	C	G839C	Likely pathogenic	1	1	26	28
MUT:COL1A1:Gly839Ser	PROT:P02452	COL1A1	G	839	S	G839S	Pathogenic	1	2	26	28
MUT:COL1A1:Gly842Ala	PROT:P02452	COL1A1	G	842	A	G842A	Pathogenic	1	1	26	25
MUT:COL1A1:Gly845Ala	PROT:P02452	COL1A1	G	845	A	G845A	Pathogenic	1	1	26	22
MUT:COL1A1:Gly845Arg	PROT:P02452	COL1A1	G	845	R	G845R	Pathogenic	1	2	26	22
MUT:COL1A1:Gly848Arg	PROT:P02452	COL1A1	G	848	R	G848R	Likely pathogenic	1	1	26	19
MUT:COL1A1:Gly851Ala	PROT:P02452	COL1A1	G	851	A	G851A	Pathogenic	1	1	26	16
MUT:COL1A1:Gly851Asp	PROT:P02452	COL1A1	G	851	D	G851D	Pathogenic	1	1	26	16
MUT:COL1A1:Gly854Arg	PROT:P02452	COL1A1	G	854	R	G854R	Pathogenic	1	1	26	13
MUT:COL1A1:Gly854Ser	PROT:P02452	COL1A1	G	854	S	G854S	Pathogenic	1	1	26	13
MUT:COL1A1:Gly857Asp	PROT:P02452	COL1A1	G	857	D	G857D	Likely pathogenic	1	1	26	10
MUT:COL1A1:Gly857Cys	PROT:P02452	COL1A1	G	857	C	G857C	Pathogenic/Likely pathogenic	1	2	26	10
MUT:COL1A1:Gly860Glu	PROT:P02452	COL1A1	G	860	E	G860E	Likely pathogenic	1	2	26	7
MUT:COL1A1:Gly866Ser	PROT:P02452	COL1A1	G	866	S	G866S	Pathogenic	1	2	26	1
MUT:COL1A1:Gly869Cys	PROT:P02452	COL1A1	G	869	C	G869C	Pathogenic	1	1	26	2
MUT:COL1A1:Gly878Ala	PROT:P02452	COL1A1	G	878	A	G878A	Likely pathogenic	1	1	26	11
MUT:COL1A1:Gly881Ser	PROT:P02452	COL1A1	G	881	S	G881S	Pathogenic	1	1	26	8
MUT:COL1A1:Gly884Ser	PROT:P02452	COL1A1	G	884	S	G884S	Pathogenic/Likely pathogenic	1	2	26	5
MUT:COL1A1:Gly890Ala	PROT:P02452	COL1A1	G	890	A	G890A	Likely pathogenic	1	1	26	1
MUT:COL1A1:Gly893Ala	PROT:P02452	COL1A1	G	893	A	G893A	Pathogenic	1	1	26	4
MUT:COL1A1:Gly896Cys	PROT:P02452	COL1A1	G	896	C	G896C	Pathogenic	1	1	26	7
MUT:COL1A1:Gly902Ser	PROT:P02452	COL1A1	G	902	S	G902S	Pathogenic	1	1	26	13
MUT:COL1A1:Gly906Ser	PROT:P02452	COL1A1	G	906	S	G906S	Likely benign	0	3	26	17
MUT:COL1A1:Gly920Ser	PROT:P02452	COL1A1	G	920	S	G920S	Likely pathogenic	1	1	26	31
MUT:COL1A1:Gly926Asp	PROT:P02452	COL1A1	G	926	D	G926D	Pathogenic	1	1	26	37
MUT:COL1A1:Gly926Cys	PROT:P02452	COL1A1	G	926	C	G926C	Pathogenic	1	1	26	37
MUT:COL1A1:Gly941Cys	PROT:P02452	COL1A1	G	941	C	G941C	Likely pathogenic	1	1	26	52
MUT:COL1A1:Gly941Ser	PROT:P02452	COL1A1	G	941	S	G941S	Likely pathogenic	1	1	26	52
MUT:COL1A1:Gly950Arg	PROT:P02452	COL1A1	G	950	R	G950R	Pathogenic/Likely pathogenic	1	2	26	61
MUT:COL1A1:Gly953Val	PROT:P02452	COL1A1	G	953	V	G953V	Likely pathogenic	1	1	26	64
MUT:COL1A1:Gly956Ala	PROT:P02452	COL1A1	G	956	A	G956A	Likely pathogenic	1	1	26	67
MUT:COL1A1:Gly956Arg	PROT:P02452	COL1A1	G	956	R	G956R	Likely pathogenic	1	1	26	67
MUT:COL1A1:Gly959Val	PROT:P02452	COL1A1	G	959	V	G959V	Likely pathogenic	1	1	26	64
MUT:COL1A1:Gly974Asp	PROT:P02452	COL1A1	G	974	D	G974D	Pathogenic	1	1	26	49
MUT:COL1A1:Gly977Ser	PROT:P02452	COL1A1	G	977	S	G977S	Likely pathogenic	1	1	26	46
MUT:COL1A1:Gly980Val	PROT:P02452	COL1A1	G	980	V	G980V	Pathogenic	1	1	26	43
MUT:COL1A1:Gly983Cys	PROT:P02452	COL1A1	G	983	C	G983C	Likely pathogenic	1	1	26	40
MUT:COL1A1:Gly983Ser	PROT:P02452	COL1A1	G	983	S	G983S	Likely pathogenic	1	1	26	40
MUT:COL1A1:Gly986Ser	PROT:P02452	COL1A1	G	986	S	G986S	Pathogenic/Likely pathogenic	1	1	26	37
MUT:COL1A1:Gly992Asp	PROT:P02452	COL1A1	G	992	D	G992D	Likely pathogenic	1	1	26	31
MUT:COL1A1:Gly992Ser	PROT:P02452	COL1A1	G	992	S	G992S	Likely pathogenic	1	1	26	31
MUT:COL1A1:Gly995Ala	PROT:P02452	COL1A1	G	995	A	G995A	Likely pathogenic	1	1	26	28
MUT:COL1A1:Gly998Ala	PROT:P02452	COL1A1	G	998	A	G998A	Likely pathogenic	1	1	26	25
MUT:COL1A1:His1323Tyr	PROT:P02452	COL1A1	H	1323	Y	H1323Y	Likely pathogenic	1	1	26	7
MUT:COL1A1:Ile1398Ser	PROT:P02452	COL1A1	I	1398	S	I1398S	Likely pathogenic	1	1	26	5
MUT:COL1A1:Leu1388Pro	PROT:P02452	COL1A1	L	1388	P	L1388P	Pathogenic	1	1	26	3
MUT:COL1A1:Leu1389Pro	PROT:P02452	COL1A1	L	1389	P	L1389P	Likely pathogenic	1	1	26	4
MUT:COL1A1:Leu1464Pro	PROT:P02452	COL1A1	L	1464	P	L1464P	Pathogenic	1	2	26	34
MUT:COL1A1:Lys612Asn	PROT:P02452	COL1A1	K	612	N	K612N	Likely benign	0	1	26	66
MUT:COL1A1:Lys759Thr	PROT:P02452	COL1A1	K	759	T	K759T	Likely benign	0	1	26	0
MUT:COL1A1:Met1000Thr	PROT:P02452	COL1A1	M	1000	T	M1000T	Likely benign	0	1	26	23
MUT:COL1A1:Met1264Val	PROT:P02452	COL1A1	M	1264	V	M1264V	Pathogenic	1	1	26	6
MUT:COL1A1:Met181Ile	PROT:P02452	COL1A1	M	181	I	M181I	Pathogenic/Likely pathogenic	1	2	26	5
MUT:COL1A1:Met1Ile	PROT:P02452	COL1A1	M	1	I	M1I	Pathogenic	1	1	26	170
MUT:COL1A1:Met1Leu	PROT:P02452	COL1A1	M	1	L	M1L	Pathogenic	1	1	26	170
MUT:COL1A1:Met1Lys	PROT:P02452	COL1A1	M	1	K	M1K	Pathogenic	1	1	26	170
MUT:COL1A1:Met1Thr	PROT:P02452	COL1A1	M	1	T	M1T	Pathogenic	1	1	26	170
MUT:COL1A1:Met1Val	PROT:P02452	COL1A1	M	1	V	M1V	Pathogenic	1	1	26	170
MUT:COL1A1:Phe1200Leu	PROT:P02452	COL1A1	F	1200	L	F1200L	Benign	0	1	26	1
MUT:COL1A1:Phe1326Cys	PROT:P02452	COL1A1	F	1326	C	F1326C	Pathogenic	1	1	26	10
MUT:COL1A1:Phe1463Leu	PROT:P02452	COL1A1	F	1463	L	F1463L	Benign	0	2	26	33
MUT:COL1A1:Phe681Leu	PROT:P02452	COL1A1	F	681	L	F681L	Benign	0	1	26	78
MUT:COL1A1:Pro1044Thr	PROT:P02452	COL1A1	P	1044	T	P1044T	Likely benign	0	1	26	15
MUT:COL1A1:Pro1119Thr	PROT:P02452	COL1A1	P	1119	T	P1119T	Likely benign	0	1	26	6
MUT:COL1A1:Pro1126Ser	PROT:P02452	COL1A1	P	1126	S	P1126S	Likely benign	0	1	26	1
MUT:COL1A1:Pro119Arg	PROT:P02452	COL1A1	P	119	R	P119R	Likely benign	0	1	26	52
MUT:COL1A1:Pro1305Leu	PROT:P02452	COL1A1	P	1305	L	P1305L	Likely benign	0	1	26	11
MUT:COL1A1:Pro161Ser	PROT:P02452	COL1A1	P	161	S	P161S	Likely benign	0	1	26	10
MUT:COL1A1:Pro208Ala	PROT:P02452	COL1A1	P	208	A	P208A	Benign	0	1	26	32
MUT:COL1A1:Pro211Leu	PROT:P02452	COL1A1	P	211	L	P211L	Likely benign	0	1	26	35
MUT:COL1A1:Pro219Ser	PROT:P02452	COL1A1	P	219	S	P219S	Benign	0	1	26	43
MUT:COL1A1:Pro342Leu	PROT:P02452	COL1A1	P	342	L	P342L	Likely benign	0	1	26	51
MUT:COL1A1:Pro412Arg	PROT:P02452	COL1A1	P	412	R	P412R	Likely pathogenic	1	1	26	93
MUT:COL1A1:Pro423Leu	PROT:P02452	COL1A1	P	423	L	P423L	Likely benign	0	1	26	82
MUT:COL1A1:Pro483His	PROT:P02452	COL1A1	P	483	H	P483H	Likely benign	0	1	26	22
MUT:COL1A1:Pro555Thr	PROT:P02452	COL1A1	P	555	T	P555T	Likely pathogenic	1	1	26	9
MUT:COL1A1:Pro565Thr	PROT:P02452	COL1A1	P	565	T	P565T	Likely benign	0	1	26	19
MUT:COL1A1:Pro57Ala	PROT:P02452	COL1A1	P	57	A	P57A	Likely benign	0	1	26	114
MUT:COL1A1:Pro57Thr	PROT:P02452	COL1A1	P	57	T	P57T	Likely benign	0	1	26	114
MUT:COL1A1:Pro648Leu	PROT:P02452	COL1A1	P	648	L	P648L	Likely benign	0	1	26	102
MUT:COL1A1:Pro691Leu	PROT:P02452	COL1A1	P	691	L	P691L	Likely benign	0	1	26	68
MUT:COL1A1:Pro739Leu	PROT:P02452	COL1A1	P	739	L	P739L	Likely benign	0	1	26	20
MUT:COL1A1:Pro805Leu	PROT:P02452	COL1A1	P	805	L	P805L	Benign/Likely benign	0	2	26	46
MUT:COL1A1:Pro841Ser	PROT:P02452	COL1A1	P	841	S	P841S	Likely benign	0	1	26	26
MUT:COL1A1:Pro852Ser	PROT:P02452	COL1A1	P	852	S	P852S	Likely benign	0	1	26	15
MUT:COL1A1:Pro924Ser	PROT:P02452	COL1A1	P	924	S	P924S	Benign	0	1	26	35
MUT:COL1A1:Pro927Ser	PROT:P02452	COL1A1	P	927	S	P927S	Benign	0	1	26	38
MUT:COL1A1:Pro949Ser	PROT:P02452	COL1A1	P	949	S	P949S	Likely benign	0	1	26	60
MUT:COL1A1:Ser1199Gly	PROT:P02452	COL1A1	S	1199	G	S1199G	Likely benign	0	1	26	0
MUT:COL1A1:Ser1251Gly	PROT:P02452	COL1A1	S	1251	G	S1251G	Likely benign	0	1	26	4
MUT:COL1A1:Ser1306Asn	PROT:P02452	COL1A1	S	1306	N	S1306N	Likely benign	0	1	26	10
MUT:COL1A1:Thr108Ile	PROT:P02452	COL1A1	T	108	I	T108I	Likely benign	0	1	26	63
MUT:COL1A1:Thr1234Ser	PROT:P02452	COL1A1	T	1234	S	T1234S	Benign	0	1	26	2
MUT:COL1A1:Thr1298Asn	PROT:P02452	COL1A1	T	1298	N	T1298N	Pathogenic/Likely pathogenic	1	1	26	18
MUT:COL1A1:Thr1298Ile	PROT:P02452	COL1A1	T	1298	I	T1298I	Likely pathogenic	1	1	26	18
MUT:COL1A1:Thr1367Ser	PROT:P02452	COL1A1	T	1367	S	T1367S	Likely pathogenic	1	1	26	18
MUT:COL1A1:Thr1431Ile	PROT:P02452	COL1A1	T	1431	I	T1431I	Pathogenic	1	2	26	1
MUT:COL1A1:Trp1275Cys	PROT:P02452	COL1A1	W	1275	C	W1275C	Likely pathogenic	1	1	26	4
MUT:COL1A1:Trp1312Cys	PROT:P02452	COL1A1	W	1312	C	W1312C	Pathogenic	1	1	26	4
MUT:COL1A1:Trp1325Cys	PROT:P02452	COL1A1	W	1325	C	W1325C	Likely pathogenic	1	2	26	9
MUT:COL1A1:Tyr1216Cys	PROT:P02452	COL1A1	Y	1216	C	Y1216C	Pathogenic/Likely pathogenic	1	1	26	17
MUT:COL1A1:Tyr1274Ser	PROT:P02452	COL1A1	Y	1274	S	Y1274S	Likely pathogenic	1	2	26	3
MUT:COL1A1:Tyr1368Cys	PROT:P02452	COL1A1	Y	1368	C	Y1368C	Likely pathogenic	1	1	26	17
MUT:COL1A1:Tyr1408Ser	PROT:P02452	COL1A1	Y	1408	S	Y1408S	Likely pathogenic	1	1	26	15
MUT:COL1A1:Val1442Ala	PROT:P02452	COL1A1	V	1442	A	V1442A	Likely benign	0	1	26	12
MUT:COL1A1:Val454Phe	PROT:P02452	COL1A1	V	454	F	V454F	Likely benign	0	1	26	51
MUT:COL1A1:Val94Ile	PROT:P02452	COL1A1	V	94	I	V94I	Likely benign	0	1	26	77
MUT:COL1A2:Ala1119Thr	PROT:P08123	COL1A2	A	1119	T	A1119T	Pathogenic/Likely pathogenic	1	1	16	5
MUT:COL1A2:Ala1119Val	PROT:P08123	COL1A2	A	1119	V	A1119V	Likely pathogenic	1	1	16	5
MUT:COL1A2:Ala227Thr	PROT:P08123	COL1A2	A	227	T	A227T	Likely benign	0	1	16	18
MUT:COL1A2:Ala483Thr	PROT:P08123	COL1A2	A	483	T	A483T	Likely benign	0	1	16	79
MUT:COL1A2:Ala855Thr	PROT:P08123	COL1A2	A	855	T	A855T	Benign/Likely benign	0	2	16	126
MUT:COL1A2:Arg1205Gln	PROT:P08123	COL1A2	R	1205	Q	R1205Q	Benign/Likely benign	0	2	16	57
MUT:COL1A2:Arg41His	PROT:P08123	COL1A2	R	41	H	R41H	Benign/Likely benign	0	3	16	157
MUT:COL1A2:Arg693Gln	PROT:P08123	COL1A2	R	693	Q	R693Q	Benign/Likely benign	0	3	16	17
MUT:COL1A2:Asp144Gly	PROT:P08123	COL1A2	D	144	G	D144G	Likely pathogenic	1	1	16	54
MUT:COL1A2:Cys1195Arg	PROT:P08123	COL1A2	C	1195	R	C1195R	Pathogenic/Likely pathogenic	1	3	16	47
MUT:COL1A2:Cys1195Ser	PROT:P08123	COL1A2	C	1195	S	C1195S	Pathogenic	1	1	16	47
MUT:COL1A2:Cys1272Arg	PROT:P08123	COL1A2	C	1272	R	C1272R	Likely pathogenic	1	1	16	124
MUT:COL1A2:Cys1272Tyr	PROT:P08123	COL1A2	C	1272	Y	C1272Y	Pathogenic	1	1	16	124
MUT:COL1A2:Gly1003Asp	PROT:P08123	COL1A2	G	1003	D	G1003D	Pathogenic	1	1	16	4
MUT:COL1A2:Gly1006Ala	PROT:P08123	COL1A2	G	1006	A	G1006A	Pathogenic	1	1	16	7
MUT:COL1A2:Gly100Asp	PROT:P08123	COL1A2	G	100	D	G100D	Likely pathogenic	1	1	16	98
MUT:COL1A2:Gly1012Arg	PROT:P08123	COL1A2	G	1012	R	G1012R	Pathogenic	1	1	16	13
MUT:COL1A2:Gly1012Ser	PROT:P08123	COL1A2	G	1012	S	G1012S	Pathogenic/Likely pathogenic	1	4	16	13
MUT:COL1A2:Gly1015Glu	PROT:P08123	COL1A2	G	1015	E	G1015E	Pathogenic	1	1	16	16
MUT:COL1A2:Gly1024Arg	PROT:P08123	COL1A2	G	1024	R	G1024R	Pathogenic/Likely pathogenic	1	3	16	25
MUT:COL1A2:Gly1030Ala	PROT:P08123	COL1A2	G	1030	A	G1030A	Pathogenic	1	1	16	31
MUT:COL1A2:Gly1030Ser	PROT:P08123	COL1A2	G	1030	S	G1030S	Pathogenic	1	1	16	31
MUT:COL1A2:Gly1036Arg	PROT:P08123	COL1A2	G	1036	R	G1036R	Pathogenic	1	2	16	28
MUT:COL1A2:Gly1039Val	PROT:P08123	COL1A2	G	1039	V	G1039V	Likely pathogenic	1	1	16	25
MUT:COL1A2:Gly1045Asp	PROT:P08123	COL1A2	G	1045	D	G1045D	Likely pathogenic	1	1	16	19
MUT:COL1A2:Gly1045Ser	PROT:P08123	COL1A2	G	1045	S	G1045S	Likely pathogenic	1	1	16	19
MUT:COL1A2:Gly1048Ser	PROT:P08123	COL1A2	G	1048	S	G1048S	Likely pathogenic	1	1	16	16
MUT:COL1A2:Gly1054Val	PROT:P08123	COL1A2	G	1054	V	G1054V	Likely pathogenic	1	1	16	10
MUT:COL1A2:Gly1072Val	PROT:P08123	COL1A2	G	1072	V	G1072V	Likely pathogenic	1	1	16	1
MUT:COL1A2:Gly1078Asp	PROT:P08123	COL1A2	G	1078	D	G1078D	Pathogenic	1	1	16	5
MUT:COL1A2:Gly1084Asp	PROT:P08123	COL1A2	G	1084	D	G1084D	Pathogenic	1	1	16	11
MUT:COL1A2:Gly1084Cys	PROT:P08123	COL1A2	G	1084	C	G1084C	Pathogenic/Likely pathogenic	1	1	16	11
MUT:COL1A2:Gly1090Asp	PROT:P08123	COL1A2	G	1090	D	G1090D	Pathogenic	1	1	16	14
MUT:COL1A2:Gly1093Ala	PROT:P08123	COL1A2	G	1093	A	G1093A	Pathogenic	1	1	16	11
MUT:COL1A2:Gly1093Cys	PROT:P08123	COL1A2	G	1093	C	G1093C	Pathogenic/Likely pathogenic	1	2	16	11
MUT:COL1A2:Gly1093Ser	PROT:P08123	COL1A2	G	1093	S	G1093S	Pathogenic	1	1	16	11
MUT:COL1A2:Gly1099Arg	PROT:P08123	COL1A2	G	1099	R	G1099R	Pathogenic	1	1	16	5
MUT:COL1A2:Gly109Asp	PROT:P08123	COL1A2	G	109	D	G109D	Pathogenic/Likely pathogenic	1	2	16	89
MUT:COL1A2:Gly109Ser	PROT:P08123	COL1A2	G	109	S	G109S	Likely pathogenic	1	1	16	89
MUT:COL1A2:Gly109Val	PROT:P08123	COL1A2	G	109	V	G109V	Likely pathogenic	1	1	16	89
MUT:COL1A2:Gly1102Ala	PROT:P08123	COL1A2	G	1102	A	G1102A	Pathogenic/Likely pathogenic	1	1	16	2
MUT:COL1A2:Gly1102Asp	PROT:P08123	COL1A2	G	1102	D	G1102D	Pathogenic	1	1	16	2
MUT:COL1A2:Gly1102Cys	PROT:P08123	COL1A2	G	1102	C	G1102C	Pathogenic	1	1	16	2
MUT:COL1A2:Gly1102Ser	PROT:P08123	COL1A2	G	1102	S	G1102S	Pathogenic	1	1	16	2
MUT:COL1A2:Gly118Ser	PROT:P08123	COL1A2	G	118	S	G118S	Likely pathogenic	1	1	16	80
MUT:COL1A2:Gly130Val	PROT:P08123	COL1A2	G	130	V	G130V	Pathogenic/Likely pathogenic	1	1	16	68
MUT:COL1A2:Gly151Arg	PROT:P08123	COL1A2	G	151	R	G151R	Pathogenic/Likely pathogenic	1	2	16	47
MUT:COL1A2:Gly166Val	PROT:P08123	COL1A2	G	166	V	G166V	Pathogenic	1	1	16	32
MUT:COL1A2:Gly184Asp	PROT:P08123	COL1A2	G	184	D	G184D	Likely pathogenic	1	2	16	14
MUT:COL1A2:Gly190Arg	PROT:P08123	COL1A2	G	190	R	G190R	Pathogenic	1	2	16	8
MUT:COL1A2:Gly193Cys	PROT:P08123	COL1A2	G	193	C	G193C	Pathogenic	1	1	16	5
MUT:COL1A2:Gly193Ser	PROT:P08123	COL1A2	G	193	S	G193S	Pathogenic	1	5	16	5
MUT:COL1A2:Gly196Asp	PROT:P08123	COL1A2	G	196	D	G196D	Pathogenic/Likely pathogenic	1	1	16	2
MUT:COL1A2:Gly199Asp	PROT:P08123	COL1A2	G	199	D	G199D	Pathogenic/Likely pathogenic	1	3	16	1
MUT:COL1A2:Gly202Asp	PROT:P08123	COL1A2	G	202	D	G202D	Pathogenic	1	1	16	4
MUT:COL1A2:Gly202Ser	PROT:P08123	COL1A2	G	202	S	G202S	Likely pathogenic	1	1	16	4
MUT:COL1A2:Gly205Asp	PROT:P08123	COL1A2	G	205	D	G205D	Pathogenic/Likely pathogenic	1	1	16	4
MUT:COL1A2:Gly211Asp	PROT:P08123	COL1A2	G	211	D	G211D	Pathogenic	1	2	16	2
MUT:COL1A2:Gly217Glu	PROT:P08123	COL1A2	G	217	E	G217E	Pathogenic/Likely pathogenic	1	1	16	8
MUT:COL1A2:Gly220Asp	PROT:P08123	COL1A2	G	220	D	G220D	Pathogenic/Likely pathogenic	1	1	16	11
MUT:COL1A2:Gly226Asp	PROT:P08123	COL1A2	G	226	D	G226D	Likely pathogenic	1	1	16	17
MUT:COL1A2:Gly229Asp	PROT:P08123	COL1A2	G	229	D	G229D	Pathogenic	1	1	16	20
MUT:COL1A2:Gly238Val	PROT:P08123	COL1A2	G	238	V	G238V	Likely pathogenic	1	1	16	13
MUT:COL1A2:Gly244Ser	PROT:P08123	COL1A2	G	244	S	G244S	Likely pathogenic	1	1	16	7
MUT:COL1A2:Gly247Asp	PROT:P08123	COL1A2	G	247	D	G247D	Pathogenic	1	1	16	4
MUT:COL1A2:Gly247Cys	PROT:P08123	COL1A2	G	247	C	G247C	Pathogenic/Likely pathogenic	1	2	16	4
MUT:COL1A2:Gly247Ser	PROT:P08123	COL1A2	G	247	S	G247S	Pathogenic/Likely pathogenic	1	1	16	4
MUT:COL1A2:Gly253Asp	PROT:P08123	COL1A2	G	253	D	G253D	Pathogenic	1	1	16	2
MUT:COL1A2:Gly253Val	PROT:P08123	COL1A2	G	253	V	G253V	Pathogenic	1	1	16	2
MUT:COL1A2:Gly256Val	PROT:P08123	COL1A2	G	256	V	G256V	Pathogenic	1	3	16	5
MUT:COL1A2:Gly259Asp	PROT:P08123	COL1A2	G	259	D	G259D	Pathogenic/Likely pathogenic	1	1	16	8
MUT:COL1A2:Gly259Cys	PROT:P08123	COL1A2	G	259	C	G259C	Pathogenic	1	1	16	8
MUT:COL1A2:Gly259Val	PROT:P08123	COL1A2	G	259	V	G259V	Likely pathogenic	1	1	16	8
MUT:COL1A2:Gly262Arg	PROT:P08123	COL1A2	G	262	R	G262R	Likely pathogenic	1	1	16	11
MUT:COL1A2:Gly262Asp	PROT:P08123	COL1A2	G	262	D	G262D	Pathogenic/Likely pathogenic	1	1	16	11
MUT:COL1A2:Gly265Arg	PROT:P08123	COL1A2	G	265	R	G265R	Pathogenic	1	1	16	14
MUT:COL1A2:Gly265Asp	PROT:P08123	COL1A2	G	265	D	G265D	Pathogenic	1	2	16	14
MUT:COL1A2:Gly265Val	PROT:P08123	COL1A2	G	265	V	G265V	Pathogenic/Likely pathogenic	1	1	16	14
MUT:COL1A2:Gly268Arg	PROT:P08123	COL1A2	G	268	R	G268R	Likely pathogenic	1	1	16	17
MUT:COL1A2:Gly271Arg	PROT:P08123	COL1A2	G	271	R	G271R	Pathogenic	1	1	16	20
MUT:COL1A2:Gly274Arg	PROT:P08123	COL1A2	G	274	R	G274R	Pathogenic	1	2	16	23
MUT:COL1A2:Gly274Val	PROT:P08123	COL1A2	G	274	V	G274V	Pathogenic	1	1	16	23
MUT:COL1A2:Gly280Cys	PROT:P08123	COL1A2	G	280	C	G280C	Pathogenic/Likely pathogenic	1	1	16	29
MUT:COL1A2:Gly280Ser	PROT:P08123	COL1A2	G	280	S	G280S	Pathogenic	1	6	16	29
MUT:COL1A2:Gly283Cys	PROT:P08123	COL1A2	G	283	C	G283C	Pathogenic	1	1	16	32
MUT:COL1A2:Gly286Ala	PROT:P08123	COL1A2	G	286	A	G286A	Pathogenic/Likely pathogenic	1	1	16	35
MUT:COL1A2:Gly286Ser	PROT:P08123	COL1A2	G	286	S	G286S	Pathogenic	1	1	16	35
MUT:COL1A2:Gly292Ala	PROT:P08123	COL1A2	G	292	A	G292A	Likely pathogenic	1	1	16	41
MUT:COL1A2:Gly292Asp	PROT:P08123	COL1A2	G	292	D	G292D	Pathogenic/Likely pathogenic	1	2	16	41
MUT:COL1A2:Gly292Cys	PROT:P08123	COL1A2	G	292	C	G292C	Pathogenic/Likely pathogenic	1	1	16	41
MUT:COL1A2:Gly292Ser	PROT:P08123	COL1A2	G	292	S	G292S	Pathogenic	1	2	16	41
MUT:COL1A2:Gly292Val	PROT:P08123	COL1A2	G	292	V	G292V	Pathogenic	1	1	16	41
MUT:COL1A2:Gly298Cys	PROT:P08123	COL1A2	G	298	C	G298C	Pathogenic	1	1	16	47
MUT:COL1A2:Gly298Ser	PROT:P08123	COL1A2	G	298	S	G298S	Pathogenic/Likely pathogenic	1	2	16	47
MUT:COL1A2:Gly304Asp	PROT:P08123	COL1A2	G	304	D	G304D	Likely pathogenic	1	1	16	53
MUT:COL1A2:Gly304Ser	PROT:P08123	COL1A2	G	304	S	G304S	Pathogenic/Likely pathogenic	1	2	16	53
MUT:COL1A2:Gly304Val	PROT:P08123	COL1A2	G	304	V	G304V	Pathogenic	1	1	16	53
MUT:COL1A2:Gly310Ser	PROT:P08123	COL1A2	G	310	S	G310S	Pathogenic	1	2	16	59
MUT:COL1A2:Gly316Asp	PROT:P08123	COL1A2	G	316	D	G316D	Likely pathogenic	1	1	16	65
MUT:COL1A2:Gly316Ser	PROT:P08123	COL1A2	G	316	S	G316S	Pathogenic/Likely pathogenic	1	4	16	65
MUT:COL1A2:Gly322Ser	PROT:P08123	COL1A2	G	322	S	G322S	Pathogenic/Likely pathogenic	1	2	16	71
MUT:COL1A2:Gly328Ser	PROT:P08123	COL1A2	G	328	S	G328S	Pathogenic	1	4	16	73
MUT:COL1A2:Gly331Asp	PROT:P08123	COL1A2	G	331	D	G331D	Pathogenic	1	1	16	70
MUT:COL1A2:Gly331Ser	PROT:P08123	COL1A2	G	331	S	G331S	Pathogenic/Likely pathogenic	1	1	16	70
MUT:COL1A2:Gly334Asp	PROT:P08123	COL1A2	G	334	D	G334D	Pathogenic/Likely pathogenic	1	2	16	67
MUT:COL1A2:Gly334Val	PROT:P08123	COL1A2	G	334	V	G334V	Pathogenic	1	1	16	67
MUT:COL1A2:Gly337Ser	PROT:P08123	COL1A2	G	337	S	G337S	Pathogenic	1	8	16	64
MUT:COL1A2:Gly340Ala	PROT:P08123	COL1A2	G	340	A	G340A	Pathogenic	1	1	16	61
MUT:COL1A2:Gly340Arg	PROT:P08123	COL1A2	G	340	R	G340R	Pathogenic	1	1	16	61
MUT:COL1A2:Gly340Ser	PROT:P08123	COL1A2	G	340	S	G340S	Likely pathogenic	1	1	16	61
MUT:COL1A2:Gly343Glu	PROT:P08123	COL1A2	G	343	E	G343E	Pathogenic	1	1	16	58
MUT:COL1A2:Gly349Ser	PROT:P08123	COL1A2	G	349	S	G349S	Pathogenic	1	1	16	52
MUT:COL1A2:Gly358Ser	PROT:P08123	COL1A2	G	358	S	G358S	Pathogenic	1	3	16	43
MUT:COL1A2:Gly361Arg	PROT:P08123	COL1A2	G	361	R	G361R	Pathogenic	1	1	16	40
MUT:COL1A2:Gly361Cys	PROT:P08123	COL1A2	G	361	C	G361C	Pathogenic/Likely pathogenic	1	1	16	40
MUT:COL1A2:Gly367Arg	PROT:P08123	COL1A2	G	367	R	G367R	Pathogenic	1	1	16	34
MUT:COL1A2:Gly367Trp	PROT:P08123	COL1A2	G	367	W	G367W	Pathogenic	1	1	16	34
MUT:COL1A2:Gly370Ser	PROT:P08123	COL1A2	G	370	S	G370S	Pathogenic	1	1	16	31
MUT:COL1A2:Gly379Ala	PROT:P08123	COL1A2	G	379	A	G379A	Likely pathogenic	1	1	16	22
MUT:COL1A2:Gly382Asp	PROT:P08123	COL1A2	G	382	D	G382D	Likely pathogenic	1	1	16	19
MUT:COL1A2:Gly388Arg	PROT:P08123	COL1A2	G	388	R	G388R	Pathogenic	1	2	16	13
MUT:COL1A2:Gly388Val	PROT:P08123	COL1A2	G	388	V	G388V	Pathogenic	1	1	16	13
MUT:COL1A2:Gly391Arg	PROT:P08123	COL1A2	G	391	R	G391R	Pathogenic/Likely pathogenic	1	2	16	10
MUT:COL1A2:Gly391Ser	PROT:P08123	COL1A2	G	391	S	G391S	Pathogenic/Likely pathogenic	1	4	16	10
MUT:COL1A2:Gly400Ala	PROT:P08123	COL1A2	G	400	A	G400A	Pathogenic/Likely pathogenic	1	1	16	1
MUT:COL1A2:Gly400Asp	PROT:P08123	COL1A2	G	400	D	G400D	Pathogenic	1	1	16	1
MUT:COL1A2:Gly403Arg	PROT:P08123	COL1A2	G	403	R	G403R	Pathogenic	1	2	16	1
MUT:COL1A2:Gly403Asp	PROT:P08123	COL1A2	G	403	D	G403D	Pathogenic/Likely pathogenic	1	1	16	1
MUT:COL1A2:Gly403Cys	PROT:P08123	COL1A2	G	403	C	G403C	Pathogenic/Likely pathogenic	1	1	16	1
MUT:COL1A2:Gly406Asp	PROT:P08123	COL1A2	G	406	D	G406D	Likely pathogenic	1	1	16	2
MUT:COL1A2:Gly406Ser	PROT:P08123	COL1A2	G	406	S	G406S	Pathogenic	1	1	16	2
MUT:COL1A2:Gly412Val	PROT:P08123	COL1A2	G	412	V	G412V	Likely pathogenic	1	1	16	8
MUT:COL1A2:Gly418Ala	PROT:P08123	COL1A2	G	418	A	G418A	Pathogenic/Likely pathogenic	1	1	16	14
MUT:COL1A2:Gly421Asp	PROT:P08123	COL1A2	G	421	D	G421D	Pathogenic	1	1	16	17
MUT:COL1A2:Gly427Ser	PROT:P08123	COL1A2	G	427	S	G427S	Pathogenic	1	1	16	23
MUT:COL1A2:Gly430Ala	PROT:P08123	COL1A2	G	430	A	G430A	Likely pathogenic	1	1	16	26
MUT:COL1A2:Gly439Cys	PROT:P08123	COL1A2	G	439	C	G439C	Pathogenic	1	1	16	35
MUT:COL1A2:Gly448Glu	PROT:P08123	COL1A2	G	448	E	G448E	Likely pathogenic	1	1	16	44
MUT:COL1A2:Gly451Asp	PROT:P08123	COL1A2	G	451	D	G451D	Pathogenic	1	1	16	47
MUT:COL1A2:Gly451Ser	PROT:P08123	COL1A2	G	451	S	G451S	Pathogenic	1	1	16	47
MUT:COL1A2:Gly454Cys	PROT:P08123	COL1A2	G	454	C	G454C	Pathogenic	1	1	16	50
MUT:COL1A2:Gly454Val	PROT:P08123	COL1A2	G	454	V	G454V	Pathogenic	1	1	16	50
MUT:COL1A2:Gly460Ser	PROT:P08123	COL1A2	G	460	S	G460S	Pathogenic	1	2	16	56
MUT:COL1A2:Gly469Ala	PROT:P08123	COL1A2	G	469	A	G469A	Pathogenic/Likely pathogenic	1	1	16	65
MUT:COL1A2:Gly472Arg	PROT:P08123	COL1A2	G	472	R	G472R	Pathogenic	1	1	16	68
MUT:COL1A2:Gly472Asp	PROT:P08123	COL1A2	G	472	D	G472D	Likely pathogenic	1	1	16	68
MUT:COL1A2:Gly472Cys	PROT:P08123	COL1A2	G	472	C	G472C	Pathogenic	1	1	16	68
MUT:COL1A2:Gly475Val	PROT:P08123	COL1A2	G	475	V	G475V	Likely pathogenic	1	1	16	71
MUT:COL1A2:Gly481Arg	PROT:P08123	COL1A2	G	481	R	G481R	Pathogenic	1	1	16	77
MUT:COL1A2:Gly481Cys	PROT:P08123	COL1A2	G	481	C	G481C	Pathogenic	1	1	16	77
MUT:COL1A2:Gly484Val	PROT:P08123	COL1A2	G	484	V	G484V	Pathogenic	1	1	16	80
MUT:COL1A2:Gly499Ala	PROT:P08123	COL1A2	G	499	A	G499A	Pathogenic/Likely pathogenic	1	1	16	95
MUT:COL1A2:Gly499Ser	PROT:P08123	COL1A2	G	499	S	G499S	Pathogenic	1	1	16	95
MUT:COL1A2:Gly502Ser	PROT:P08123	COL1A2	G	502	S	G502S	Likely pathogenic	1	1	16	95
MUT:COL1A2:Gly505Ser	PROT:P08123	COL1A2	G	505	S	G505S	Pathogenic	1	1	16	92
MUT:COL1A2:Gly508Val	PROT:P08123	COL1A2	G	508	V	G508V	Pathogenic	1	1	16	89
MUT:COL1A2:Gly511Cys	PROT:P08123	COL1A2	G	511	C	G511C	Likely pathogenic	1	1	16	86
MUT:COL1A2:Gly514Ala	PROT:P08123	COL1A2	G	514	A	G514A	Pathogenic/Likely pathogenic	1	1	16	83
MUT:COL1A2:Gly517Val	PROT:P08123	COL1A2	G	517	V	G517V	Pathogenic	1	1	16	80
MUT:COL1A2:Gly520Ser	PROT:P08123	COL1A2	G	520	S	G520S	Pathogenic	1	1	16	77
MUT:COL1A2:Gly526Arg	PROT:P08123	COL1A2	G	526	R	G526R	Pathogenic/Likely pathogenic	1	3	16	71
MUT:COL1A2:Gly526Val	PROT:P08123	COL1A2	G	526	V	G526V	Likely pathogenic	1	1	16	71
MUT:COL1A2:Gly535Val	PROT:P08123	COL1A2	G	535	V	G535V	Likely pathogenic	1	1	16	62
MUT:COL1A2:Gly538Ser	PROT:P08123	COL1A2	G	538	S	G538S	Likely pathogenic	1	1	16	59
MUT:COL1A2:Gly541Ser	PROT:P08123	COL1A2	G	541	S	G541S	Likely pathogenic	1	1	16	56
MUT:COL1A2:Gly544Ala	PROT:P08123	COL1A2	G	544	A	G544A	Likely pathogenic	1	1	16	53
MUT:COL1A2:Gly544Cys	PROT:P08123	COL1A2	G	544	C	G544C	Likely pathogenic	1	1	16	53
MUT:COL1A2:Gly547Asp	PROT:P08123	COL1A2	G	547	D	G547D	Pathogenic	1	1	16	50
MUT:COL1A2:Gly553Cys	PROT:P08123	COL1A2	G	553	C	G553C	Likely pathogenic	1	1	16	44
MUT:COL1A2:Gly556Asp	PROT:P08123	COL1A2	G	556	D	G556D	Pathogenic	1	1	16	41
MUT:COL1A2:Gly556Val	PROT:P08123	COL1A2	G	556	V	G556V	Likely pathogenic	1	1	16	41
MUT:COL1A2:Gly559Asp	PROT:P08123	COL1A2	G	559	D	G559D	Pathogenic	1	1	16	38
MUT:COL1A2:Gly562Ser	PROT:P08123	COL1A2	G	562	S	G562S	Pathogenic	1	1	16	35
MUT:COL1A2:Gly580Asp	PROT:P08123	COL1A2	G	580	D	G580D	Pathogenic	1	1	16	17
MUT:COL1A2:Gly586Val	PROT:P08123	COL1A2	G	586	V	G586V	Pathogenic	1	2	16	11
MUT:COL1A2:Gly592Ser	PROT:P08123	COL1A2	G	592	S	G592S	Pathogenic	1	1	16	5
MUT:COL1A2:Gly601Ser	PROT:P08123	COL1A2	G	601	S	G601S	Pathogenic	1	4	16	4
MUT:COL1A2:Gly610Ser	PROT:P08123	COL1A2	G	610	S	G610S	Likely pathogenic	1	1	16	13
MUT:COL1A2:Gly613Arg	PROT:P08123	COL1A2	G	613	R	G613R	Likely pathogenic	1	1	16	16
MUT:COL1A2:Gly613Glu	PROT:P08123	COL1A2	G	613	E	G613E	Likely pathogenic	1	1	16	16
MUT:COL1A2:Gly616Glu	PROT:P08123	COL1A2	G	616	E	G616E	Pathogenic/Likely pathogenic	1	1	16	19
MUT:COL1A2:Gly622Cys	PROT:P08123	COL1A2	G	622	C	G622C	Pathogenic/Likely pathogenic	1	1	16	25
MUT:COL1A2:Gly622Val	PROT:P08123	COL1A2	G	622	V	G622V	Likely pathogenic	1	2	16	25
MUT:COL1A2:Gly625Cys	PROT:P08123	COL1A2	G	625	C	G625C	Pathogenic/Likely pathogenic	1	2	16	28
MUT:COL1A2:Gly625Ser	PROT:P08123	COL1A2	G	625	S	G625S	Likely pathogenic	1	1	16	28
MUT:COL1A2:Gly628Cys	PROT:P08123	COL1A2	G	628	C	G628C	Pathogenic	1	1	16	31
MUT:COL1A2:Gly631Val	PROT:P08123	COL1A2	G	631	V	G631V	Pathogenic	1	2	16	34
MUT:COL1A2:Gly634Ser	PROT:P08123	COL1A2	G	634	S	G634S	Pathogenic	1	1	16	37
MUT:COL1A2:Gly634Val	PROT:P08123	COL1A2	G	634	V	G634V	Pathogenic/Likely pathogenic	1	1	16	37
MUT:COL1A2:Gly643Arg	PROT:P08123	COL1A2	G	643	R	G643R	Likely pathogenic	1	1	16	46
MUT:COL1A2:Gly646Cys	PROT:P08123	COL1A2	G	646	C	G646C	Pathogenic	1	1	16	49
MUT:COL1A2:Gly646Val	PROT:P08123	COL1A2	G	646	V	G646V	Pathogenic/Likely pathogenic	1	2	16	49
MUT:COL1A2:Gly661Arg	PROT:P08123	COL1A2	G	661	R	G661R	Pathogenic	1	1	16	49
MUT:COL1A2:Gly661Cys	PROT:P08123	COL1A2	G	661	C	G661C	Pathogenic/Likely pathogenic	1	1	16	49
MUT:COL1A2:Gly661Ser	PROT:P08123	COL1A2	G	661	S	G661S	Pathogenic	1	1	16	49
MUT:COL1A2:Gly664Asp	PROT:P08123	COL1A2	G	664	D	G664D	Pathogenic/Likely pathogenic	1	1	16	46
MUT:COL1A2:Gly664Val	PROT:P08123	COL1A2	G	664	V	G664V	Pathogenic	1	1	16	46
MUT:COL1A2:Gly667Cys	PROT:P08123	COL1A2	G	667	C	G667C	Likely pathogenic	1	1	16	43
MUT:COL1A2:Gly676Asp	PROT:P08123	COL1A2	G	676	D	G676D	Pathogenic	1	1	16	34
MUT:COL1A2:Gly676Ser	PROT:P08123	COL1A2	G	676	S	G676S	Likely pathogenic	1	1	16	34
MUT:COL1A2:Gly676Val	PROT:P08123	COL1A2	G	676	V	G676V	Pathogenic	1	1	16	34
MUT:COL1A2:Gly679Ser	PROT:P08123	COL1A2	G	679	S	G679S	Likely pathogenic	1	2	16	31
MUT:COL1A2:Gly685Ser	PROT:P08123	COL1A2	G	685	S	G685S	Likely pathogenic	1	1	16	25
MUT:COL1A2:Gly691Asp	PROT:P08123	COL1A2	G	691	D	G691D	Likely pathogenic	1	1	16	19
MUT:COL1A2:Gly694Arg	PROT:P08123	COL1A2	G	694	R	G694R	Pathogenic	1	1	16	16
MUT:COL1A2:Gly694Asp	PROT:P08123	COL1A2	G	694	D	G694D	Pathogenic	1	2	16	16
MUT:COL1A2:Gly697Trp	PROT:P08123	COL1A2	G	697	W	G697W	Pathogenic	1	1	16	13
MUT:COL1A2:Gly700Arg	PROT:P08123	COL1A2	G	700	R	G700R	Pathogenic	1	1	16	10
MUT:COL1A2:Gly712Ser	PROT:P08123	COL1A2	G	712	S	G712S	Pathogenic	1	1	16	2
MUT:COL1A2:Gly721Cys	PROT:P08123	COL1A2	G	721	C	G721C	Likely pathogenic	1	1	16	11
MUT:COL1A2:Gly727Cys	PROT:P08123	COL1A2	G	727	C	G727C	Pathogenic	1	1	16	17
MUT:COL1A2:Gly733Ala	PROT:P08123	COL1A2	G	733	A	G733A	Likely pathogenic	1	1	16	23
MUT:COL1A2:Gly733Cys	PROT:P08123	COL1A2	G	733	C	G733C	Pathogenic/Likely pathogenic	1	1	16	23
MUT:COL1A2:Gly736Cys	PROT:P08123	COL1A2	G	736	C	G736C	Pathogenic	1	2	16	26
MUT:COL1A2:Gly742Glu	PROT:P08123	COL1A2	G	742	E	G742E	Pathogenic/Likely pathogenic	1	1	16	32
MUT:COL1A2:Gly745Arg	PROT:P08123	COL1A2	G	745	R	G745R	Pathogenic	1	2	16	35
MUT:COL1A2:Gly745Glu	PROT:P08123	COL1A2	G	745	E	G745E	Likely pathogenic	1	1	16	35
MUT:COL1A2:Gly751Ser	PROT:P08123	COL1A2	G	751	S	G751S	Pathogenic	1	1	16	41
MUT:COL1A2:Gly757Asp	PROT:P08123	COL1A2	G	757	D	G757D	Likely pathogenic	1	1	16	47
MUT:COL1A2:Gly757Cys	PROT:P08123	COL1A2	G	757	C	G757C	Pathogenic	1	1	16	47
MUT:COL1A2:Gly766Asp	PROT:P08123	COL1A2	G	766	D	G766D	Pathogenic/Likely pathogenic	1	2	16	56
MUT:COL1A2:Gly769Cys	PROT:P08123	COL1A2	G	769	C	G769C	Pathogenic	1	1	16	59
MUT:COL1A2:Gly769Val	PROT:P08123	COL1A2	G	769	V	G769V	Likely pathogenic	1	1	16	59
MUT:COL1A2:Gly772Arg	PROT:P08123	COL1A2	G	772	R	G772R	Pathogenic/Likely pathogenic	1	2	16	62
MUT:COL1A2:Gly772Cys	PROT:P08123	COL1A2	G	772	C	G772C	Pathogenic	1	1	16	62
MUT:COL1A2:Gly772Ser	PROT:P08123	COL1A2	G	772	S	G772S	Pathogenic/Likely pathogenic	1	3	16	62
MUT:COL1A2:Gly775Glu	PROT:P08123	COL1A2	G	775	E	G775E	Pathogenic/Likely pathogenic	1	1	16	65
MUT:COL1A2:Gly781Asp	PROT:P08123	COL1A2	G	781	D	G781D	Pathogenic	1	1	16	71
MUT:COL1A2:Gly787Cys	PROT:P08123	COL1A2	G	787	C	G787C	Pathogenic	1	1	16	77
MUT:COL1A2:Gly799Glu	PROT:P08123	COL1A2	G	799	E	G799E	Pathogenic	1	1	16	89
MUT:COL1A2:Gly802Ser	PROT:P08123	COL1A2	G	802	S	G802S	Likely pathogenic	1	1	16	92
MUT:COL1A2:Gly802Val	PROT:P08123	COL1A2	G	802	V	G802V	Likely pathogenic	1	5	16	92
MUT:COL1A2:Gly805Asp	PROT:P08123	COL1A2	G	805	D	G805D	Pathogenic	1	1	16	95
MUT:COL1A2:Gly808Ala	PROT:P08123	COL1A2	G	808	A	G808A	Likely pathogenic	1	1	16	98
MUT:COL1A2:Gly814Arg	PROT:P08123	COL1A2	G	814	R	G814R	Pathogenic	1	1	16	104
MUT:COL1A2:Gly829Ser	PROT:P08123	COL1A2	G	829	S	G829S	Pathogenic/Likely pathogenic	1	1	16	119
MUT:COL1A2:Gly832Glu	PROT:P08123	COL1A2	G	832	E	G832E	Likely pathogenic	1	1	16	122
MUT:COL1A2:Gly835Asp	PROT:P08123	COL1A2	G	835	D	G835D	Likely pathogenic	1	1	16	125
MUT:COL1A2:Gly835Ser	PROT:P08123	COL1A2	G	835	S	G835S	Pathogenic	1	1	16	125
MUT:COL1A2:Gly835Val	PROT:P08123	COL1A2	G	835	V	G835V	Likely pathogenic	1	1	16	125
MUT:COL1A2:Gly838Ser	PROT:P08123	COL1A2	G	838	S	G838S	Likely pathogenic	1	1	16	128
MUT:COL1A2:Gly844Ala	PROT:P08123	COL1A2	G	844	A	G844A	Pathogenic/Likely pathogenic	1	1	16	134
MUT:COL1A2:Gly859Ser	PROT:P08123	COL1A2	G	859	S	G859S	Pathogenic	1	2	16	122
MUT:COL1A2:Gly865Ser	PROT:P08123	COL1A2	G	865	S	G865S	Pathogenic	1	1	16	116
MUT:COL1A2:Gly871Ala	PROT:P08123	COL1A2	G	871	A	G871A	Likely pathogenic	1	1	16	110
MUT:COL1A2:Gly874Ala	PROT:P08123	COL1A2	G	874	A	G874A	Likely pathogenic	1	1	16	107
MUT:COL1A2:Gly877Ser	PROT:P08123	COL1A2	G	877	S	G877S	Likely pathogenic	1	1	16	104
MUT:COL1A2:Gly880Ser	PROT:P08123	COL1A2	G	880	S	G880S	Pathogenic	1	1	16	101
MUT:COL1A2:Gly886Val	PROT:P08123	COL1A2	G	886	V	G886V	Likely pathogenic	1	1	16	95
MUT:COL1A2:Gly892Val	PROT:P08123	COL1A2	G	892	V	G892V	Likely pathogenic	1	1	16	89
MUT:COL1A2:Gly895Asp	PROT:P08123	COL1A2	G	895	D	G895D	Pathogenic	1	1	16	86
MUT:COL1A2:Gly898Val	PROT:P08123	COL1A2	G	898	V	G898V	Likely pathogenic	1	1	16	83
MUT:COL1A2:Gly901Cys	PROT:P08123	COL1A2	G	901	C	G901C	Likely pathogenic	1	1	16	80
MUT:COL1A2:Gly901Ser	PROT:P08123	COL1A2	G	901	S	G901S	Pathogenic/Likely pathogenic	1	3	16	80
MUT:COL1A2:Gly904Arg	PROT:P08123	COL1A2	G	904	R	G904R	Likely pathogenic	1	1	16	77
MUT:COL1A2:Gly904Glu	PROT:P08123	COL1A2	G	904	E	G904E	Likely pathogenic	1	2	16	77
MUT:COL1A2:Gly907Asp	PROT:P08123	COL1A2	G	907	D	G907D	Pathogenic	1	1	16	74
MUT:COL1A2:Gly913Asp	PROT:P08123	COL1A2	G	913	D	G913D	Pathogenic/Likely pathogenic	1	2	16	68
MUT:COL1A2:Gly913Ser	PROT:P08123	COL1A2	G	913	S	G913S	Likely pathogenic	1	1	16	68
MUT:COL1A2:Gly919Ser	PROT:P08123	COL1A2	G	919	S	G919S	Pathogenic/Likely pathogenic	1	2	16	62
MUT:COL1A2:Gly925Asp	PROT:P08123	COL1A2	G	925	D	G925D	Pathogenic/Likely pathogenic	1	1	16	56
MUT:COL1A2:Gly928Val	PROT:P08123	COL1A2	G	928	V	G928V	Likely pathogenic	1	1	16	53
MUT:COL1A2:Gly937Asp	PROT:P08123	COL1A2	G	937	D	G937D	Likely pathogenic	1	1	16	44
MUT:COL1A2:Gly937Cys	PROT:P08123	COL1A2	G	937	C	G937C	Pathogenic	1	1	16	44
MUT:COL1A2:Gly940Val	PROT:P08123	COL1A2	G	940	V	G940V	Pathogenic	1	1	16	41
MUT:COL1A2:Gly952Ser	PROT:P08123	COL1A2	G	952	S	G952S	Likely pathogenic	1	1	16	29
MUT:COL1A2:Gly958Val	PROT:P08123	COL1A2	G	958	V	G958V	Likely pathogenic	1	1	16	23
MUT:COL1A2:Gly964Asp	PROT:P08123	COL1A2	G	964	D	G964D	Pathogenic/Likely pathogenic	1	1	16	17
MUT:COL1A2:Gly967Val	PROT:P08123	COL1A2	G	967	V	G967V	Likely pathogenic	1	1	16	14
MUT:COL1A2:Gly970Arg	PROT:P08123	COL1A2	G	970	R	G970R	Pathogenic	1	1	16	11
MUT:COL1A2:Gly973Asp	PROT:P08123	COL1A2	G	973	D	G973D	Pathogenic/Likely pathogenic	1	2	16	8
MUT:COL1A2:Gly973Val	PROT:P08123	COL1A2	G	973	V	G973V	Pathogenic	1	2	16	8
MUT:COL1A2:Gly979Arg	PROT:P08123	COL1A2	G	979	R	G979R	Likely pathogenic	1	1	16	2
MUT:COL1A2:Gly982Ser	PROT:P08123	COL1A2	G	982	S	G982S	Pathogenic/Likely pathogenic	1	1	16	1
MUT:COL1A2:Gly988Asp	PROT:P08123	COL1A2	G	988	D	G988D	Likely pathogenic	1	1	16	7
MUT:COL1A2:Gly997Ser	PROT:P08123	COL1A2	G	997	S	G997S	Pathogenic/Likely pathogenic	1	1	16	2
MUT:COL1A2:Ile954Thr	PROT:P08123	COL1A2	I	954	T	I954T	Benign/Likely benign	0	3	16	27
MUT:COL1A2:Leu873Pro	PROT:P08123	COL1A2	L	873	P	L873P	Likely pathogenic	1	1	16	108
MUT:COL1A2:Met93Ile	PROT:P08123	COL1A2	M	93	I	M93I	Pathogenic	1	1	16	105
MUT:COL1A2:Pro549Ala	PROT:P08123	COL1A2	P	549	A	P549A	Benign	0	7	16	48
MUT:COL1A2:Pro857Thr	PROT:P08123	COL1A2	P	857	T	P857T	Benign/Likely benign	0	2	16	124
MUT:COL1A2:Ser251Phe	PROT:P08123	COL1A2	S	251	F	S251F	Likely pathogenic	1	1	16	0
MUT:COL1A2:Tyr81Cys	PROT:P08123	COL1A2	Y	81	C	Y81C	Likely pathogenic	1	1	16	117
MUT:COL1A2:Val1047Met	PROT:P08123	COL1A2	V	1047	M	V1047M	Benign/Likely benign	0	1	16	17
MUT:COL1A2:Val270Ile	PROT:P08123	COL1A2	V	270	I	V270I	Benign/Likely benign	0	4	16	19
MUT:COL27A1:Ala422Thr	PROT:Q8IZC6	COL27A1	A	422	T	A422T	Benign	0	1	3	3
MUT:COL27A1:Arg1094Gln	PROT:Q8IZC6	COL27A1	R	1094	Q	R1094Q	Likely benign	0	1	3	544
MUT:COL27A1:Arg1253His	PROT:Q8IZC6	COL27A1	R	1253	H	R1253H	Benign	0	1	3	703
MUT:COL27A1:Arg1354Gln	PROT:Q8IZC6	COL27A1	R	1354	Q	R1354Q	Benign	0	1	3	804
MUT:COL27A1:Arg1688Gln	PROT:Q8IZC6	COL27A1	R	1688	Q	R1688Q	Likely benign	0	9	3	1138
MUT:COL27A1:Arg459Gln	PROT:Q8IZC6	COL27A1	R	459	Q	R459Q	Likely benign	0	1	3	40
MUT:COL27A1:Arg552Gln	PROT:Q8IZC6	COL27A1	R	552	Q	R552Q	Benign/Likely benign	0	1	3	2
MUT:COL27A1:Asn1723Ser	PROT:Q8IZC6	COL27A1	N	1723	S	N1723S	Benign	0	3	3	1173
MUT:COL27A1:Asp1353Glu	PROT:Q8IZC6	COL27A1	D	1353	E	D1353E	Benign	0	1	3	803
MUT:COL27A1:Asp1356His	PROT:Q8IZC6	COL27A1	D	1356	H	D1356H	Benign	0	1	3	806
MUT:COL27A1:Gln120Arg	PROT:Q8IZC6	COL27A1	Q	120	R	Q120R	Benign	0	1	3	299
MUT:COL27A1:Gly1021Asp	PROT:Q8IZC6	COL27A1	G	1021	D	G1021D	Likely pathogenic	1	1	3	471
MUT:COL27A1:Gly1330Arg	PROT:Q8IZC6	COL27A1	G	1330	R	G1330R	Likely pathogenic	1	1	3	780
MUT:COL27A1:Gly1604Val	PROT:Q8IZC6	COL27A1	G	1604	V	G1604V	Likely pathogenic	1	1	3	1054
MUT:COL27A1:Gly546Arg	PROT:Q8IZC6	COL27A1	G	546	R	G546R	Likely benign	0	1	3	3
MUT:COL27A1:Gly697Arg	PROT:Q8IZC6	COL27A1	G	697	R	G697R	Pathogenic	1	2	3	147
MUT:COL27A1:Gly802Glu	PROT:Q8IZC6	COL27A1	G	802	E	G802E	Pathogenic	1	1	3	252
MUT:COL27A1:Ile1140Val	PROT:Q8IZC6	COL27A1	I	1140	V	I1140V	Likely benign	0	1	3	590
MUT:COL27A1:Ile379Phe	PROT:Q8IZC6	COL27A1	I	379	F	I379F	Likely benign	0	2	3	40
MUT:COL27A1:Ile537Thr	PROT:Q8IZC6	COL27A1	I	537	T	I537T	Benign	0	1	3	12
MUT:COL27A1:Ile611Phe	PROT:Q8IZC6	COL27A1	I	611	F	I611F	Benign	0	1	3	61
MUT:COL27A1:Leu124Val	PROT:Q8IZC6	COL27A1	L	124	V	L124V	Benign/Likely benign	0	1	3	295
MUT:COL27A1:Lys1377Asn	PROT:Q8IZC6	COL27A1	K	1377	N	K1377N	Likely benign	0	1	3	827
MUT:COL27A1:Met996Ile	PROT:Q8IZC6	COL27A1	M	996	I	M996I	Likely benign	0	1	3	446
MUT:COL27A1:Pro430Gln	PROT:Q8IZC6	COL27A1	P	430	Q	P430Q	Likely benign	0	1	3	11
MUT:COL27A1:Pro437Leu	PROT:Q8IZC6	COL27A1	P	437	L	P437L	Likely benign	0	2	3	18
MUT:COL27A1:Pro705Ser	PROT:Q8IZC6	COL27A1	P	705	S	P705S	Benign/Likely benign	0	2	3	155
MUT:COL27A1:Pro953Leu	PROT:Q8IZC6	COL27A1	P	953	L	P953L	Likely benign	0	1	3	403
MUT:COL27A1:Thr1293Met	PROT:Q8IZC6	COL27A1	T	1293	M	T1293M	Benign/Likely benign	0	1	3	743
MUT:COL27A1:Thr388Ile	PROT:Q8IZC6	COL27A1	T	388	I	T388I	Benign	0	1	3	31
MUT:COL27A1:Val591Ala	PROT:Q8IZC6	COL27A1	V	591	A	V591A	Likely benign	0	1	3	41
MUT:COL27A1:Val89Ile	PROT:Q8IZC6	COL27A1	V	89	I	V89I	Benign	0	1	3	330
MUT:COL2A1:Ala1051Thr	PROT:P02458	COL2A1	A	1051	T	A1051T	Benign/Likely benign	0	2	4	256
MUT:COL2A1:Ala1079Thr	PROT:P02458	COL2A1	A	1079	T	A1079T	Benign/Likely benign	0	1	4	228
MUT:COL2A1:Ala1177Ser	PROT:P02458	COL2A1	A	1177	S	A1177S	Likely benign	0	1	4	130
MUT:COL2A1:Ala181Ser	PROT:P02458	COL2A1	A	181	S	A181S	Benign	0	1	4	309
MUT:COL2A1:Ala302Val	PROT:P02458	COL2A1	A	302	V	A302V	Pathogenic/Likely pathogenic	1	4	4	188
MUT:COL2A1:Ala377Thr	PROT:P02458	COL2A1	A	377	T	A377T	Pathogenic	1	1	4	113
MUT:COL2A1:Ala6Asp	PROT:P02458	COL2A1	A	6	D	A6D	Benign/Likely benign	0	3	4	484
MUT:COL2A1:Arg1058Cys	PROT:P02458	COL2A1	R	1058	C	R1058C	Likely benign	0	1	4	249
MUT:COL2A1:Arg275Cys	PROT:P02458	COL2A1	R	275	C	R275C	Pathogenic	1	5	4	215
MUT:COL2A1:Arg53Gln	PROT:P02458	COL2A1	R	53	Q	R53Q	Likely benign	0	1	4	437
MUT:COL2A1:Arg565Cys	PROT:P02458	COL2A1	R	565	C	R565C	Pathogenic/Likely pathogenic	1	6	4	23
MUT:COL2A1:Arg719Cys	PROT:P02458	COL2A1	R	719	C	R719C	Pathogenic	1	1	4	54
MUT:COL2A1:Arg904Cys	PROT:P02458	COL2A1	R	904	C	R904C	Pathogenic	1	3	4	131
MUT:COL2A1:Arg989Cys	PROT:P02458	COL2A1	R	989	C	R989C	Pathogenic/Likely pathogenic	1	2	4	216
MUT:COL2A1:Arg992Gly	PROT:P02458	COL2A1	R	992	G	R992G	Pathogenic	1	1	4	219
MUT:COL2A1:Asp1219His	PROT:P02458	COL2A1	D	1219	H	D1219H	Likely pathogenic	1	1	4	88
MUT:COL2A1:Cys34Arg	PROT:P02458	COL2A1	C	34	R	C34R	Pathogenic/Likely pathogenic	1	1	4	456
MUT:COL2A1:Cys57Tyr	PROT:P02458	COL2A1	C	57	Y	C57Y	Pathogenic	1	1	4	433
MUT:COL2A1:Glu142Asp	PROT:P02458	COL2A1	E	142	D	E142D	Benign/Likely benign	0	3	4	348
MUT:COL2A1:Glu652Gly	PROT:P02458	COL2A1	E	652	G	E652G	Likely pathogenic	1	1	4	110
MUT:COL2A1:Gly1005Ser	PROT:P02458	COL2A1	G	1005	S	G1005S	Pathogenic/Likely pathogenic	1	2	4	232
MUT:COL2A1:Gly1008Cys	PROT:P02458	COL2A1	G	1008	C	G1008C	Likely pathogenic	1	1	4	235
MUT:COL2A1:Gly1008Val	PROT:P02458	COL2A1	G	1008	V	G1008V	Pathogenic	1	1	4	235
MUT:COL2A1:Gly1014Glu	PROT:P02458	COL2A1	G	1014	E	G1014E	Pathogenic	1	1	4	241
MUT:COL2A1:Gly1017Asp	PROT:P02458	COL2A1	G	1017	D	G1017D	Likely pathogenic	1	1	4	244
MUT:COL2A1:Gly1026Ala	PROT:P02458	COL2A1	G	1026	A	G1026A	Likely pathogenic	1	1	4	253
MUT:COL2A1:Gly1026Asp	PROT:P02458	COL2A1	G	1026	D	G1026D	Pathogenic	1	1	4	253
MUT:COL2A1:Gly1041Ser	PROT:P02458	COL2A1	G	1041	S	G1041S	Pathogenic	1	4	4	266
MUT:COL2A1:Gly1047Ser	PROT:P02458	COL2A1	G	1047	S	G1047S	Likely pathogenic	1	1	4	260
MUT:COL2A1:Gly1050Asp	PROT:P02458	COL2A1	G	1050	D	G1050D	Likely pathogenic	1	1	4	257
MUT:COL2A1:Gly1053Ala	PROT:P02458	COL2A1	G	1053	A	G1053A	Likely pathogenic	1	1	4	254
MUT:COL2A1:Gly1053Glu	PROT:P02458	COL2A1	G	1053	E	G1053E	Pathogenic	1	1	4	254
MUT:COL2A1:Gly1053Val	PROT:P02458	COL2A1	G	1053	V	G1053V	Likely pathogenic	1	1	4	254
MUT:COL2A1:Gly1059Ala	PROT:P02458	COL2A1	G	1059	A	G1059A	Likely pathogenic	1	1	4	248
MUT:COL2A1:Gly1074Ser	PROT:P02458	COL2A1	G	1074	S	G1074S	Pathogenic	1	1	4	233
MUT:COL2A1:Gly1080Arg	PROT:P02458	COL2A1	G	1080	R	G1080R	Likely pathogenic	1	1	4	227
MUT:COL2A1:Gly1086Arg	PROT:P02458	COL2A1	G	1086	R	G1086R	Likely pathogenic	1	1	4	221
MUT:COL2A1:Gly1089Arg	PROT:P02458	COL2A1	G	1089	R	G1089R	Pathogenic	1	1	4	218
MUT:COL2A1:Gly1092Asp	PROT:P02458	COL2A1	G	1092	D	G1092D	Pathogenic/Likely pathogenic	1	2	4	215
MUT:COL2A1:Gly1101Arg	PROT:P02458	COL2A1	G	1101	R	G1101R	Pathogenic	1	1	4	206
MUT:COL2A1:Gly1104Glu	PROT:P02458	COL2A1	G	1104	E	G1104E	Pathogenic/Likely pathogenic	1	2	4	203
MUT:COL2A1:Gly1107Glu	PROT:P02458	COL2A1	G	1107	E	G1107E	Likely pathogenic	1	1	4	200
MUT:COL2A1:Gly1110Ser	PROT:P02458	COL2A1	G	1110	S	G1110S	Pathogenic/Likely pathogenic	1	1	4	197
MUT:COL2A1:Gly1116Cys	PROT:P02458	COL2A1	G	1116	C	G1116C	Pathogenic	1	1	4	191
MUT:COL2A1:Gly1143Ser	PROT:P02458	COL2A1	G	1143	S	G1143S	Pathogenic	1	1	4	164
MUT:COL2A1:Gly1146Ala	PROT:P02458	COL2A1	G	1146	A	G1146A	Likely pathogenic	1	1	4	161
MUT:COL2A1:Gly1146Ser	PROT:P02458	COL2A1	G	1146	S	G1146S	Pathogenic/Likely pathogenic	1	1	4	161
MUT:COL2A1:Gly1152Arg	PROT:P02458	COL2A1	G	1152	R	G1152R	Pathogenic	1	1	4	155
MUT:COL2A1:Gly1155Arg	PROT:P02458	COL2A1	G	1155	R	G1155R	Pathogenic	1	1	4	152
MUT:COL2A1:Gly1155Ser	PROT:P02458	COL2A1	G	1155	S	G1155S	Pathogenic/Likely pathogenic	1	1	4	152
MUT:COL2A1:Gly1158Arg	PROT:P02458	COL2A1	G	1158	R	G1158R	Likely pathogenic	1	1	4	149
MUT:COL2A1:Gly1164Asp	PROT:P02458	COL2A1	G	1164	D	G1164D	Likely pathogenic	1	2	4	143
MUT:COL2A1:Gly1164Ser	PROT:P02458	COL2A1	G	1164	S	G1164S	Pathogenic	1	2	4	143
MUT:COL2A1:Gly1170Ser	PROT:P02458	COL2A1	G	1170	S	G1170S	Pathogenic	1	2	4	137
MUT:COL2A1:Gly1173Arg	PROT:P02458	COL2A1	G	1173	R	G1173R	Pathogenic	1	1	4	134
MUT:COL2A1:Gly1176Val	PROT:P02458	COL2A1	G	1176	V	G1176V	Pathogenic	1	1	4	131
MUT:COL2A1:Gly1179Glu	PROT:P02458	COL2A1	G	1179	E	G1179E	Likely pathogenic	1	1	4	128
MUT:COL2A1:Gly1185Arg	PROT:P02458	COL2A1	G	1185	R	G1185R	Pathogenic	1	1	4	122
MUT:COL2A1:Gly1185Glu	PROT:P02458	COL2A1	G	1185	E	G1185E	Pathogenic	1	1	4	122
MUT:COL2A1:Gly1188Ala	PROT:P02458	COL2A1	G	1188	A	G1188A	Likely pathogenic	1	1	4	119
MUT:COL2A1:Gly1197Arg	PROT:P02458	COL2A1	G	1197	R	G1197R	Pathogenic	1	1	4	110
MUT:COL2A1:Gly1197Ser	PROT:P02458	COL2A1	G	1197	S	G1197S	Pathogenic/Likely pathogenic	1	7	4	110
MUT:COL2A1:Gly1206Ala	PROT:P02458	COL2A1	G	1206	A	G1206A	Pathogenic	1	1	4	101
MUT:COL2A1:Gly1305Asp	PROT:P02458	COL2A1	G	1305	D	G1305D	Pathogenic	1	1	4	2
MUT:COL2A1:Gly1405Ser	PROT:P02458	COL2A1	G	1405	S	G1405S	Benign/Likely benign	0	2	4	98
MUT:COL2A1:Gly1443Ser	PROT:P02458	COL2A1	G	1443	S	G1443S	Benign/Likely benign	0	1	4	136
MUT:COL2A1:Gly168Cys	PROT:P02458	COL2A1	G	168	C	G168C	Likely pathogenic	1	1	4	322
MUT:COL2A1:Gly207Arg	PROT:P02458	COL2A1	G	207	R	G207R	Pathogenic	1	2	4	283
MUT:COL2A1:Gly207Val	PROT:P02458	COL2A1	G	207	V	G207V	Likely pathogenic	1	1	4	283
MUT:COL2A1:Gly213Asp	PROT:P02458	COL2A1	G	213	D	G213D	Likely pathogenic	1	1	4	277
MUT:COL2A1:Gly219Arg	PROT:P02458	COL2A1	G	219	R	G219R	Pathogenic	1	2	4	271
MUT:COL2A1:Gly222Arg	PROT:P02458	COL2A1	G	222	R	G222R	Pathogenic	1	1	4	268
MUT:COL2A1:Gly231Arg	PROT:P02458	COL2A1	G	231	R	G231R	Pathogenic	1	1	4	259
MUT:COL2A1:Gly231Asp	PROT:P02458	COL2A1	G	231	D	G231D	Likely pathogenic	1	1	4	259
MUT:COL2A1:Gly240Cys	PROT:P02458	COL2A1	G	240	C	G240C	Likely pathogenic	1	1	4	250
MUT:COL2A1:Gly243Asp	PROT:P02458	COL2A1	G	243	D	G243D	Likely pathogenic	1	1	4	247
MUT:COL2A1:Gly243Val	PROT:P02458	COL2A1	G	243	V	G243V	Likely pathogenic	1	1	4	247
MUT:COL2A1:Gly246Val	PROT:P02458	COL2A1	G	246	V	G246V	Pathogenic	1	1	4	244
MUT:COL2A1:Gly267Asp	PROT:P02458	COL2A1	G	267	D	G267D	Pathogenic	1	1	4	223
MUT:COL2A1:Gly300Val	PROT:P02458	COL2A1	G	300	V	G300V	Likely pathogenic	1	1	4	190
MUT:COL2A1:Gly303Asp	PROT:P02458	COL2A1	G	303	D	G303D	Pathogenic	1	2	4	187
MUT:COL2A1:Gly309Val	PROT:P02458	COL2A1	G	309	V	G309V	Pathogenic	1	1	4	181
MUT:COL2A1:Gly318Arg	PROT:P02458	COL2A1	G	318	R	G318R	Likely pathogenic	1	1	4	172
MUT:COL2A1:Gly327Val	PROT:P02458	COL2A1	G	327	V	G327V	Pathogenic	1	1	4	163
MUT:COL2A1:Gly339Val	PROT:P02458	COL2A1	G	339	V	G339V	Likely pathogenic	1	1	4	151
MUT:COL2A1:Gly342Asp	PROT:P02458	COL2A1	G	342	D	G342D	Likely benign	0	1	4	148
MUT:COL2A1:Gly345Asp	PROT:P02458	COL2A1	G	345	D	G345D	Pathogenic	1	1	4	145
MUT:COL2A1:Gly348Asp	PROT:P02458	COL2A1	G	348	D	G348D	Pathogenic/Likely pathogenic	1	1	4	142
MUT:COL2A1:Gly348Cys	PROT:P02458	COL2A1	G	348	C	G348C	Likely pathogenic	1	1	4	142
MUT:COL2A1:Gly351Arg	PROT:P02458	COL2A1	G	351	R	G351R	Likely pathogenic	1	1	4	139
MUT:COL2A1:Gly354Arg	PROT:P02458	COL2A1	G	354	R	G354R	Pathogenic/Likely pathogenic	1	1	4	136
MUT:COL2A1:Gly354Val	PROT:P02458	COL2A1	G	354	V	G354V	Likely pathogenic	1	1	4	136
MUT:COL2A1:Gly357Ser	PROT:P02458	COL2A1	G	357	S	G357S	Pathogenic	1	1	4	133
MUT:COL2A1:Gly364Cys	PROT:P02458	COL2A1	G	364	C	G364C	Likely pathogenic	1	1	4	126
MUT:COL2A1:Gly369Arg	PROT:P02458	COL2A1	G	369	R	G369R	Pathogenic	1	1	4	121
MUT:COL2A1:Gly372Arg	PROT:P02458	COL2A1	G	372	R	G372R	Pathogenic	1	1	4	118
MUT:COL2A1:Gly387Asp	PROT:P02458	COL2A1	G	387	D	G387D	Likely pathogenic	1	1	4	103
MUT:COL2A1:Gly390Asp	PROT:P02458	COL2A1	G	390	D	G390D	Likely pathogenic	1	2	4	100
MUT:COL2A1:Gly393Ser	PROT:P02458	COL2A1	G	393	S	G393S	Pathogenic	1	2	4	97
MUT:COL2A1:Gly399Ala	PROT:P02458	COL2A1	G	399	A	G399A	Likely pathogenic	1	1	4	91
MUT:COL2A1:Gly399Arg	PROT:P02458	COL2A1	G	399	R	G399R	Pathogenic	1	1	4	91
MUT:COL2A1:Gly399Trp	PROT:P02458	COL2A1	G	399	W	G399W	Pathogenic	1	1	4	91
MUT:COL2A1:Gly402Glu	PROT:P02458	COL2A1	G	402	E	G402E	Likely pathogenic	1	1	4	88
MUT:COL2A1:Gly408Asp	PROT:P02458	COL2A1	G	408	D	G408D	Pathogenic/Likely pathogenic	1	1	4	82
MUT:COL2A1:Gly411Glu	PROT:P02458	COL2A1	G	411	E	G411E	Likely pathogenic	1	1	4	79
MUT:COL2A1:Gly414Arg	PROT:P02458	COL2A1	G	414	R	G414R	Likely pathogenic	1	1	4	76
MUT:COL2A1:Gly417Val	PROT:P02458	COL2A1	G	417	V	G417V	Pathogenic	1	1	4	73
MUT:COL2A1:Gly420Arg	PROT:P02458	COL2A1	G	420	R	G420R	Likely pathogenic	1	1	4	70
MUT:COL2A1:Gly423Ser	PROT:P02458	COL2A1	G	423	S	G423S	Pathogenic/Likely pathogenic	1	2	4	67
MUT:COL2A1:Gly429Asp	PROT:P02458	COL2A1	G	429	D	G429D	Pathogenic/Likely pathogenic	1	2	4	61
MUT:COL2A1:Gly444Asp	PROT:P02458	COL2A1	G	444	D	G444D	Likely pathogenic	1	1	4	46
MUT:COL2A1:Gly450Arg	PROT:P02458	COL2A1	G	450	R	G450R	Pathogenic	1	1	4	40
MUT:COL2A1:Gly453Ala	PROT:P02458	COL2A1	G	453	A	G453A	Pathogenic/Likely pathogenic	1	1	4	37
MUT:COL2A1:Gly453Cys	PROT:P02458	COL2A1	G	453	C	G453C	Likely pathogenic	1	1	4	37
MUT:COL2A1:Gly453Val	PROT:P02458	COL2A1	G	453	V	G453V	Pathogenic	1	1	4	37
MUT:COL2A1:Gly465Ser	PROT:P02458	COL2A1	G	465	S	G465S	Likely pathogenic	1	1	4	25
MUT:COL2A1:Gly474Ser	PROT:P02458	COL2A1	G	474	S	G474S	Likely pathogenic	1	1	4	16
MUT:COL2A1:Gly477Val	PROT:P02458	COL2A1	G	477	V	G477V	Likely pathogenic	1	1	4	13
MUT:COL2A1:Gly480Arg	PROT:P02458	COL2A1	G	480	R	G480R	Likely pathogenic	1	1	4	10
MUT:COL2A1:Gly480Glu	PROT:P02458	COL2A1	G	480	E	G480E	Pathogenic/Likely pathogenic	1	1	4	10
MUT:COL2A1:Gly486Asp	PROT:P02458	COL2A1	G	486	D	G486D	Likely pathogenic	1	1	4	4
MUT:COL2A1:Gly486Val	PROT:P02458	COL2A1	G	486	V	G486V	Likely pathogenic	1	1	4	4
MUT:COL2A1:Gly489Asp	PROT:P02458	COL2A1	G	489	D	G489D	Likely pathogenic	1	1	4	1
MUT:COL2A1:Gly492Val	PROT:P02458	COL2A1	G	492	V	G492V	Pathogenic	1	1	4	2
MUT:COL2A1:Gly495Glu	PROT:P02458	COL2A1	G	495	E	G495E	Pathogenic/Likely pathogenic	1	1	4	5
MUT:COL2A1:Gly498Arg	PROT:P02458	COL2A1	G	498	R	G498R	Pathogenic	1	1	4	8
MUT:COL2A1:Gly501Arg	PROT:P02458	COL2A1	G	501	R	G501R	Pathogenic	1	1	4	11
MUT:COL2A1:Gly501Glu	PROT:P02458	COL2A1	G	501	E	G501E	Likely pathogenic	1	1	4	11
MUT:COL2A1:Gly501Trp	PROT:P02458	COL2A1	G	501	W	G501W	Pathogenic	1	1	4	11
MUT:COL2A1:Gly501Val	PROT:P02458	COL2A1	G	501	V	G501V	Likely pathogenic	1	1	4	11
MUT:COL2A1:Gly504Ser	PROT:P02458	COL2A1	G	504	S	G504S	Pathogenic	1	1	4	14
MUT:COL2A1:Gly507Glu	PROT:P02458	COL2A1	G	507	E	G507E	Likely pathogenic	1	1	4	17
MUT:COL2A1:Gly510Cys	PROT:P02458	COL2A1	G	510	C	G510C	Pathogenic	1	1	4	20
MUT:COL2A1:Gly513Ser	PROT:P02458	COL2A1	G	513	S	G513S	Pathogenic	1	2	4	23
MUT:COL2A1:Gly516Asp	PROT:P02458	COL2A1	G	516	D	G516D	Pathogenic	1	1	4	26
MUT:COL2A1:Gly516Ser	PROT:P02458	COL2A1	G	516	S	G516S	Pathogenic/Likely pathogenic	1	1	4	26
MUT:COL2A1:Gly519Asp	PROT:P02458	COL2A1	G	519	D	G519D	Likely pathogenic	1	1	4	23
MUT:COL2A1:Gly546Ser	PROT:P02458	COL2A1	G	546	S	G546S	Pathogenic/Likely pathogenic	1	1	4	4
MUT:COL2A1:Gly546Val	PROT:P02458	COL2A1	G	546	V	G546V	Pathogenic	1	1	4	4
MUT:COL2A1:Gly549Asp	PROT:P02458	COL2A1	G	549	D	G549D	Likely pathogenic	1	1	4	7
MUT:COL2A1:Gly558Glu	PROT:P02458	COL2A1	G	558	E	G558E	Likely pathogenic	1	1	4	16
MUT:COL2A1:Gly561Ser	PROT:P02458	COL2A1	G	561	S	G561S	Pathogenic/Likely pathogenic	1	1	4	19
MUT:COL2A1:Gly585Asp	PROT:P02458	COL2A1	G	585	D	G585D	Likely pathogenic	1	1	4	43
MUT:COL2A1:Gly588Glu	PROT:P02458	COL2A1	G	588	E	G588E	Likely pathogenic	1	1	4	46
MUT:COL2A1:Gly594Arg	PROT:P02458	COL2A1	G	594	R	G594R	Pathogenic/Likely pathogenic	1	2	4	52
MUT:COL2A1:Gly597Arg	PROT:P02458	COL2A1	G	597	R	G597R	Likely pathogenic	1	1	4	55
MUT:COL2A1:Gly597Glu	PROT:P02458	COL2A1	G	597	E	G597E	Likely pathogenic	1	1	4	55
MUT:COL2A1:Gly600Asp	PROT:P02458	COL2A1	G	600	D	G600D	Pathogenic/Likely pathogenic	1	1	4	58
MUT:COL2A1:Gly609Val	PROT:P02458	COL2A1	G	609	V	G609V	Likely pathogenic	1	1	4	67
MUT:COL2A1:Gly612Val	PROT:P02458	COL2A1	G	612	V	G612V	Pathogenic	1	1	4	70
MUT:COL2A1:Gly621Glu	PROT:P02458	COL2A1	G	621	E	G621E	Pathogenic/Likely pathogenic	1	2	4	79
MUT:COL2A1:Gly630Ser	PROT:P02458	COL2A1	G	630	S	G630S	Likely pathogenic	1	1	4	88
MUT:COL2A1:Gly642Arg	PROT:P02458	COL2A1	G	642	R	G642R	Pathogenic/Likely pathogenic	1	1	4	100
MUT:COL2A1:Gly648Val	PROT:P02458	COL2A1	G	648	V	G648V	Pathogenic	1	1	4	106
MUT:COL2A1:Gly651Val	PROT:P02458	COL2A1	G	651	V	G651V	Likely pathogenic	1	1	4	109
MUT:COL2A1:Gly657Ser	PROT:P02458	COL2A1	G	657	S	G657S	Likely pathogenic	1	1	4	115
MUT:COL2A1:Gly660Glu	PROT:P02458	COL2A1	G	660	E	G660E	Pathogenic	1	1	4	113
MUT:COL2A1:Gly663Arg	PROT:P02458	COL2A1	G	663	R	G663R	Likely pathogenic	1	1	4	110
MUT:COL2A1:Gly666Arg	PROT:P02458	COL2A1	G	666	R	G666R	Pathogenic/Likely pathogenic	1	1	4	107
MUT:COL2A1:Gly666Glu	PROT:P02458	COL2A1	G	666	E	G666E	Pathogenic	1	1	4	107
MUT:COL2A1:Gly669Asp	PROT:P02458	COL2A1	G	669	D	G669D	Likely pathogenic	1	1	4	104
MUT:COL2A1:Gly669Ser	PROT:P02458	COL2A1	G	669	S	G669S	Pathogenic/Likely pathogenic	1	3	4	104
MUT:COL2A1:Gly675Arg	PROT:P02458	COL2A1	G	675	R	G675R	Likely pathogenic	1	1	4	98
MUT:COL2A1:Gly675Asp	PROT:P02458	COL2A1	G	675	D	G675D	Pathogenic	1	1	4	98
MUT:COL2A1:Gly678Arg	PROT:P02458	COL2A1	G	678	R	G678R	Pathogenic	1	1	4	95
MUT:COL2A1:Gly684Ser	PROT:P02458	COL2A1	G	684	S	G684S	Likely pathogenic	1	1	4	89
MUT:COL2A1:Gly687Ser	PROT:P02458	COL2A1	G	687	S	G687S	Pathogenic/Likely pathogenic	1	4	4	86
MUT:COL2A1:Gly690Glu	PROT:P02458	COL2A1	G	690	E	G690E	Likely pathogenic	1	1	4	83
MUT:COL2A1:Gly699Cys	PROT:P02458	COL2A1	G	699	C	G699C	Pathogenic	1	1	4	74
MUT:COL2A1:Gly702Ser	PROT:P02458	COL2A1	G	702	S	G702S	Likely pathogenic	1	1	4	71
MUT:COL2A1:Gly705Asp	PROT:P02458	COL2A1	G	705	D	G705D	Likely pathogenic	1	2	4	68
MUT:COL2A1:Gly711Asp	PROT:P02458	COL2A1	G	711	D	G711D	Pathogenic/Likely pathogenic	1	1	4	62
MUT:COL2A1:Gly717Ser	PROT:P02458	COL2A1	G	717	S	G717S	Pathogenic	1	1	4	56
MUT:COL2A1:Gly723Ser	PROT:P02458	COL2A1	G	723	S	G723S	Likely pathogenic	1	2	4	50
MUT:COL2A1:Gly729Ser	PROT:P02458	COL2A1	G	729	S	G729S	Likely pathogenic	1	1	4	44
MUT:COL2A1:Gly747Asp	PROT:P02458	COL2A1	G	747	D	G747D	Likely pathogenic	1	1	4	26
MUT:COL2A1:Gly750Arg	PROT:P02458	COL2A1	G	750	R	G750R	Pathogenic	1	1	4	23
MUT:COL2A1:Gly759Arg	PROT:P02458	COL2A1	G	759	R	G759R	Pathogenic	1	1	4	14
MUT:COL2A1:Gly765Ser	PROT:P02458	COL2A1	G	765	S	G765S	Likely pathogenic	1	1	4	8
MUT:COL2A1:Gly774Asp	PROT:P02458	COL2A1	G	774	D	G774D	Likely pathogenic	1	1	4	1
MUT:COL2A1:Gly774Ser	PROT:P02458	COL2A1	G	774	S	G774S	Pathogenic	1	1	4	1
MUT:COL2A1:Gly795Ser	PROT:P02458	COL2A1	G	795	S	G795S	Likely pathogenic	1	1	4	22
MUT:COL2A1:Gly801Ser	PROT:P02458	COL2A1	G	801	S	G801S	Pathogenic/Likely pathogenic	1	1	4	28
MUT:COL2A1:Gly822Cys	PROT:P02458	COL2A1	G	822	C	G822C	Likely pathogenic	1	2	4	49
MUT:COL2A1:Gly822Ser	PROT:P02458	COL2A1	G	822	S	G822S	Pathogenic/Likely pathogenic	1	1	4	49
MUT:COL2A1:Gly840Asp	PROT:P02458	COL2A1	G	840	D	G840D	Likely pathogenic	1	1	4	67
MUT:COL2A1:Gly843Asp	PROT:P02458	COL2A1	G	843	D	G843D	Likely pathogenic	1	1	4	70
MUT:COL2A1:Gly849Ala	PROT:P02458	COL2A1	G	849	A	G849A	Likely pathogenic	1	1	4	76
MUT:COL2A1:Gly861Arg	PROT:P02458	COL2A1	G	861	R	G861R	Likely pathogenic	1	2	4	88
MUT:COL2A1:Gly861Val	PROT:P02458	COL2A1	G	861	V	G861V	Pathogenic	1	1	4	88
MUT:COL2A1:Gly867Asp	PROT:P02458	COL2A1	G	867	D	G867D	Likely pathogenic	1	1	4	94
MUT:COL2A1:Gly867Ser	PROT:P02458	COL2A1	G	867	S	G867S	Likely pathogenic	1	1	4	94
MUT:COL2A1:Gly867Val	PROT:P02458	COL2A1	G	867	V	G867V	Pathogenic/Likely pathogenic	1	1	4	94
MUT:COL2A1:Gly870Glu	PROT:P02458	COL2A1	G	870	E	G870E	Pathogenic/Likely pathogenic	1	1	4	97
MUT:COL2A1:Gly873Trp	PROT:P02458	COL2A1	G	873	W	G873W	Pathogenic	1	1	4	100
MUT:COL2A1:Gly882Val	PROT:P02458	COL2A1	G	882	V	G882V	Likely pathogenic	1	1	4	109
MUT:COL2A1:Gly888Asp	PROT:P02458	COL2A1	G	888	D	G888D	Likely pathogenic	1	1	4	115
MUT:COL2A1:Gly891Arg	PROT:P02458	COL2A1	G	891	R	G891R	Pathogenic	1	1	4	118
MUT:COL2A1:Gly891Ser	PROT:P02458	COL2A1	G	891	S	G891S	Pathogenic	1	1	4	118
MUT:COL2A1:Gly903Asp	PROT:P02458	COL2A1	G	903	D	G903D	Likely pathogenic	1	1	4	130
MUT:COL2A1:Gly909Cys	PROT:P02458	COL2A1	G	909	C	G909C	Pathogenic	1	1	4	136
MUT:COL2A1:Gly909Ser	PROT:P02458	COL2A1	G	909	S	G909S	Likely pathogenic	1	1	4	136
MUT:COL2A1:Gly912Asp	PROT:P02458	COL2A1	G	912	D	G912D	Pathogenic	1	1	4	139
MUT:COL2A1:Gly915Glu	PROT:P02458	COL2A1	G	915	E	G915E	Likely pathogenic	1	1	4	142
MUT:COL2A1:Gly927Val	PROT:P02458	COL2A1	G	927	V	G927V	Pathogenic	1	1	4	154
MUT:COL2A1:Gly930Asp	PROT:P02458	COL2A1	G	930	D	G930D	Likely pathogenic	1	1	4	157
MUT:COL2A1:Gly930Ser	PROT:P02458	COL2A1	G	930	S	G930S	Likely pathogenic	1	1	4	157
MUT:COL2A1:Gly933Glu	PROT:P02458	COL2A1	G	933	E	G933E	Likely pathogenic	1	1	4	160
MUT:COL2A1:Gly942Arg	PROT:P02458	COL2A1	G	942	R	G942R	Likely pathogenic	1	1	4	169
MUT:COL2A1:Gly945Ser	PROT:P02458	COL2A1	G	945	S	G945S	Pathogenic	1	3	4	172
MUT:COL2A1:Gly951Glu	PROT:P02458	COL2A1	G	951	E	G951E	Likely pathogenic	1	1	4	178
MUT:COL2A1:Gly954Ser	PROT:P02458	COL2A1	G	954	S	G954S	Pathogenic	1	1	4	181
MUT:COL2A1:Gly969Ser	PROT:P02458	COL2A1	G	969	S	G969S	Pathogenic	1	1	4	196
MUT:COL2A1:Gly975Ser	PROT:P02458	COL2A1	G	975	S	G975S	Likely pathogenic	1	1	4	202
MUT:COL2A1:Gly981Ser	PROT:P02458	COL2A1	G	981	S	G981S	Pathogenic	1	1	4	208
MUT:COL2A1:Gly984Arg	PROT:P02458	COL2A1	G	984	R	G984R	Likely pathogenic	1	1	4	211
MUT:COL2A1:Gly999Cys	PROT:P02458	COL2A1	G	999	C	G999C	Likely pathogenic	1	1	4	226
MUT:COL2A1:Leu1378Gln	PROT:P02458	COL2A1	L	1378	Q	L1378Q	Likely pathogenic	1	1	4	71
MUT:COL2A1:Leu667Phe	PROT:P02458	COL2A1	L	667	F	L667F	Pathogenic	1	2	4	106
MUT:COL2A1:Lys1312Asn	PROT:P02458	COL2A1	K	1312	N	K1312N	Likely pathogenic	1	1	4	5
MUT:COL2A1:Pro245Leu	PROT:P02458	COL2A1	P	245	L	P245L	Likely benign	0	1	4	245
MUT:COL2A1:Pro944Leu	PROT:P02458	COL2A1	P	944	L	P944L	Likely benign	0	1	4	171
MUT:COL2A1:Pro952Thr	PROT:P02458	COL2A1	P	952	T	P952T	Benign/Likely benign	0	2	4	179
MUT:COL2A1:Ser1382Pro	PROT:P02458	COL2A1	S	1382	P	S1382P	Likely pathogenic	1	1	4	75
MUT:COL2A1:Thr638Ile	PROT:P02458	COL2A1	T	638	I	T638I	Benign/Likely benign	0	3	4	96
MUT:COL2A1:Thr9Ser	PROT:P02458	COL2A1	T	9	S	T9S	Benign	0	2	4	481
MUT:COL2A1:Trp1299Cys	PROT:P02458	COL2A1	W	1299	C	W1299C	Likely pathogenic	1	1	4	8
MUT:COL2A1:Tyr1391Cys	PROT:P02458	COL2A1	Y	1391	C	Y1391C	Likely pathogenic	1	2	4	84
MUT:COL2A1:Tyr1391His	PROT:P02458	COL2A1	Y	1391	H	Y1391H	Pathogenic	1	1	4	84
MUT:COL2A1:Val1022Met	PROT:P02458	COL2A1	V	1022	M	V1022M	Likely benign	0	1	4	249
MUT:COL2A1:Val1324Gly	PROT:P02458	COL2A1	V	1324	G	V1324G	Likely pathogenic	1	1	4	17
MUT:COL2A1:Val1324Ile	PROT:P02458	COL2A1	V	1324	I	V1324I	Likely benign	0	1	4	17
MUT:COL2A1:Val1331Ile	PROT:P02458	COL2A1	V	1331	I	V1331I	Benign/Likely benign	0	2	4	24
MUT:COL3A1:Ala1259Val	PROT:P02461	COL3A1	A	1259	V	A1259V	Likely benign	0	2	9	22
MUT:COL3A1:Ala364Ser	PROT:P02461	COL3A1	A	364	S	A364S	Likely benign	0	1	9	221
MUT:COL3A1:Ala679Thr	PROT:P02461	COL3A1	A	679	T	A679T	Benign/Likely benign	0	4	9	78
MUT:COL3A1:Ala698Thr	PROT:P02461	COL3A1	A	698	T	A698T	Benign	0	5	9	59
MUT:COL3A1:Ala908Gly	PROT:P02461	COL3A1	A	908	G	A908G	Likely benign	0	1	9	8
MUT:COL3A1:Arg271Gln	PROT:P02461	COL3A1	R	271	Q	R271Q	Benign/Likely benign	0	4	9	128
MUT:COL3A1:Arg446His	PROT:P02461	COL3A1	R	446	H	R446H	Benign/Likely benign	0	2	9	303
MUT:COL3A1:Asp1288Val	PROT:P02461	COL3A1	D	1288	V	D1288V	Pathogenic	1	1	9	51
MUT:COL3A1:Gln1381His	PROT:P02461	COL3A1	Q	1381	H	Q1381H	Likely benign	0	2	9	2
MUT:COL3A1:Glu241Lys	PROT:P02461	COL3A1	E	241	K	E241K	Pathogenic/Likely pathogenic	1	2	9	98
MUT:COL3A1:Glu451Lys	PROT:P02461	COL3A1	E	451	K	E451K	Pathogenic/Likely pathogenic	1	2	9	306
MUT:COL3A1:Glu682Lys	PROT:P02461	COL3A1	E	682	K	E682K	Pathogenic	1	2	9	75
MUT:COL3A1:Gly1005Ala	PROT:P02461	COL3A1	G	1005	A	G1005A	Likely pathogenic	1	2	9	34
MUT:COL3A1:Gly1008Asp	PROT:P02461	COL3A1	G	1008	D	G1008D	Pathogenic	1	1	9	31
MUT:COL3A1:Gly1011Glu	PROT:P02461	COL3A1	G	1011	E	G1011E	Likely pathogenic	1	1	9	28
MUT:COL3A1:Gly1014Arg	PROT:P02461	COL3A1	G	1014	R	G1014R	Pathogenic/Likely pathogenic	1	2	9	25
MUT:COL3A1:Gly1014Glu	PROT:P02461	COL3A1	G	1014	E	G1014E	Pathogenic	1	1	9	25
MUT:COL3A1:Gly1017Arg	PROT:P02461	COL3A1	G	1017	R	G1017R	Likely pathogenic	1	1	9	22
MUT:COL3A1:Gly1020Asp	PROT:P02461	COL3A1	G	1020	D	G1020D	Likely pathogenic	1	1	9	19
MUT:COL3A1:Gly1020Cys	PROT:P02461	COL3A1	G	1020	C	G1020C	Likely pathogenic	1	1	9	19
MUT:COL3A1:Gly1026Ala	PROT:P02461	COL3A1	G	1026	A	G1026A	Likely pathogenic	1	2	9	13
MUT:COL3A1:Gly1026Glu	PROT:P02461	COL3A1	G	1026	E	G1026E	Likely pathogenic	1	1	9	13
MUT:COL3A1:Gly1029Cys	PROT:P02461	COL3A1	G	1029	C	G1029C	Likely pathogenic	1	3	9	10
MUT:COL3A1:Gly1032Val	PROT:P02461	COL3A1	G	1032	V	G1032V	Pathogenic	1	1	9	7
MUT:COL3A1:Gly1035Cys	PROT:P02461	COL3A1	G	1035	C	G1035C	Likely pathogenic	1	2	9	4
MUT:COL3A1:Gly1035Ser	PROT:P02461	COL3A1	G	1035	S	G1035S	Likely pathogenic	1	2	9	4
MUT:COL3A1:Gly1035Val	PROT:P02461	COL3A1	G	1035	V	G1035V	Likely pathogenic	1	1	9	4
MUT:COL3A1:Gly1038Arg	PROT:P02461	COL3A1	G	1038	R	G1038R	Pathogenic/Likely pathogenic	1	1	9	1
MUT:COL3A1:Gly1041Ala	PROT:P02461	COL3A1	G	1041	A	G1041A	Likely pathogenic	1	1	9	2
MUT:COL3A1:Gly1041Arg	PROT:P02461	COL3A1	G	1041	R	G1041R	Likely pathogenic	1	2	9	2
MUT:COL3A1:Gly1041Val	PROT:P02461	COL3A1	G	1041	V	G1041V	Pathogenic	1	1	9	2
MUT:COL3A1:Gly1047Asp	PROT:P02461	COL3A1	G	1047	D	G1047D	Pathogenic	1	1	9	8
MUT:COL3A1:Gly1050Asp	PROT:P02461	COL3A1	G	1050	D	G1050D	Pathogenic	1	1	9	11
MUT:COL3A1:Gly1050Val	PROT:P02461	COL3A1	G	1050	V	G1050V	Pathogenic	1	1	9	11
MUT:COL3A1:Gly1053Ala	PROT:P02461	COL3A1	G	1053	A	G1053A	Likely pathogenic	1	1	9	14
MUT:COL3A1:Gly1053Arg	PROT:P02461	COL3A1	G	1053	R	G1053R	Pathogenic	1	1	9	14
MUT:COL3A1:Gly1053Asp	PROT:P02461	COL3A1	G	1053	D	G1053D	Pathogenic/Likely pathogenic	1	1	9	14
MUT:COL3A1:Gly1056Asp	PROT:P02461	COL3A1	G	1056	D	G1056D	Likely pathogenic	1	2	9	17
MUT:COL3A1:Gly1056Ser	PROT:P02461	COL3A1	G	1056	S	G1056S	Pathogenic/Likely pathogenic	1	3	9	17
MUT:COL3A1:Gly1059Val	PROT:P02461	COL3A1	G	1059	V	G1059V	Pathogenic	1	1	9	20
MUT:COL3A1:Gly1062Asp	PROT:P02461	COL3A1	G	1062	D	G1062D	Likely pathogenic	1	1	9	23
MUT:COL3A1:Gly1062Ser	PROT:P02461	COL3A1	G	1062	S	G1062S	Likely pathogenic	1	1	9	23
MUT:COL3A1:Gly1065Arg	PROT:P02461	COL3A1	G	1065	R	G1065R	Pathogenic/Likely pathogenic	1	2	9	26
MUT:COL3A1:Gly1065Glu	PROT:P02461	COL3A1	G	1065	E	G1065E	Pathogenic/Likely pathogenic	1	1	9	26
MUT:COL3A1:Gly1068Asp	PROT:P02461	COL3A1	G	1068	D	G1068D	Likely pathogenic	1	1	9	29
MUT:COL3A1:Gly1068Cys	PROT:P02461	COL3A1	G	1068	C	G1068C	Likely pathogenic	1	1	9	29
MUT:COL3A1:Gly1068Val	PROT:P02461	COL3A1	G	1068	V	G1068V	Pathogenic	1	1	9	29
MUT:COL3A1:Gly1071Val	PROT:P02461	COL3A1	G	1071	V	G1071V	Pathogenic	1	1	9	32
MUT:COL3A1:Gly1074Asp	PROT:P02461	COL3A1	G	1074	D	G1074D	Likely pathogenic	1	1	9	35
MUT:COL3A1:Gly1074Ser	PROT:P02461	COL3A1	G	1074	S	G1074S	Pathogenic	1	1	9	35
MUT:COL3A1:Gly1074Val	PROT:P02461	COL3A1	G	1074	V	G1074V	Likely pathogenic	1	1	9	35
MUT:COL3A1:Gly1077Ser	PROT:P02461	COL3A1	G	1077	S	G1077S	Pathogenic/Likely pathogenic	1	1	9	38
MUT:COL3A1:Gly1077Val	PROT:P02461	COL3A1	G	1077	V	G1077V	Pathogenic	1	1	9	38
MUT:COL3A1:Gly1080Asp	PROT:P02461	COL3A1	G	1080	D	G1080D	Pathogenic	1	1	9	41
MUT:COL3A1:Gly1086Val	PROT:P02461	COL3A1	G	1086	V	G1086V	Pathogenic	1	1	9	47
MUT:COL3A1:Gly1089Asp	PROT:P02461	COL3A1	G	1089	D	G1089D	Pathogenic	1	1	9	50
MUT:COL3A1:Gly1089Val	PROT:P02461	COL3A1	G	1089	V	G1089V	Likely pathogenic	1	1	9	50
MUT:COL3A1:Gly1092Ala	PROT:P02461	COL3A1	G	1092	A	G1092A	Pathogenic/Likely pathogenic	1	3	9	53
MUT:COL3A1:Gly1092Cys	PROT:P02461	COL3A1	G	1092	C	G1092C	Pathogenic	1	1	9	53
MUT:COL3A1:Gly1092Val	PROT:P02461	COL3A1	G	1092	V	G1092V	Pathogenic	1	1	9	53
MUT:COL3A1:Gly1095Asp	PROT:P02461	COL3A1	G	1095	D	G1095D	Pathogenic	1	1	9	56
MUT:COL3A1:Gly1095Val	PROT:P02461	COL3A1	G	1095	V	G1095V	Pathogenic	1	1	9	56
MUT:COL3A1:Gly1098Arg	PROT:P02461	COL3A1	G	1098	R	G1098R	Likely pathogenic	1	1	9	59
MUT:COL3A1:Gly1098Val	PROT:P02461	COL3A1	G	1098	V	G1098V	Pathogenic	1	1	9	59
MUT:COL3A1:Gly1101Ala	PROT:P02461	COL3A1	G	1101	A	G1101A	Likely pathogenic	1	2	9	62
MUT:COL3A1:Gly1101Arg	PROT:P02461	COL3A1	G	1101	R	G1101R	Pathogenic	1	1	9	62
MUT:COL3A1:Gly1101Glu	PROT:P02461	COL3A1	G	1101	E	G1101E	Pathogenic	1	1	9	62
MUT:COL3A1:Gly1107Ala	PROT:P02461	COL3A1	G	1107	A	G1107A	Likely pathogenic	1	1	9	68
MUT:COL3A1:Gly1107Arg	PROT:P02461	COL3A1	G	1107	R	G1107R	Likely pathogenic	1	1	9	68
MUT:COL3A1:Gly1113Asp	PROT:P02461	COL3A1	G	1113	D	G1113D	Likely pathogenic	1	1	9	74
MUT:COL3A1:Gly1116Val	PROT:P02461	COL3A1	G	1116	V	G1116V	Pathogenic/Likely pathogenic	1	2	9	77
MUT:COL3A1:Gly1119Asp	PROT:P02461	COL3A1	G	1119	D	G1119D	Likely pathogenic	1	1	9	80
MUT:COL3A1:Gly1122Val	PROT:P02461	COL3A1	G	1122	V	G1122V	Likely pathogenic	1	1	9	83
MUT:COL3A1:Gly1125Asp	PROT:P02461	COL3A1	G	1125	D	G1125D	Likely pathogenic	1	1	9	86
MUT:COL3A1:Gly1125Ser	PROT:P02461	COL3A1	G	1125	S	G1125S	Likely pathogenic	1	1	9	86
MUT:COL3A1:Gly1128Val	PROT:P02461	COL3A1	G	1128	V	G1128V	Likely pathogenic	1	1	9	89
MUT:COL3A1:Gly1131Ser	PROT:P02461	COL3A1	G	1131	S	G1131S	Likely pathogenic	1	2	9	89
MUT:COL3A1:Gly1131Val	PROT:P02461	COL3A1	G	1131	V	G1131V	Likely pathogenic	1	1	9	89
MUT:COL3A1:Gly1134Ala	PROT:P02461	COL3A1	G	1134	A	G1134A	Likely pathogenic	1	1	9	86
MUT:COL3A1:Gly1137Asp	PROT:P02461	COL3A1	G	1137	D	G1137D	Pathogenic	1	1	9	83
MUT:COL3A1:Gly1140Glu	PROT:P02461	COL3A1	G	1140	E	G1140E	Pathogenic	1	1	9	80
MUT:COL3A1:Gly1146Glu	PROT:P02461	COL3A1	G	1146	E	G1146E	Likely pathogenic	1	1	9	74
MUT:COL3A1:Gly1149Asp	PROT:P02461	COL3A1	G	1149	D	G1149D	Likely pathogenic	1	1	9	71
MUT:COL3A1:Gly1158Arg	PROT:P02461	COL3A1	G	1158	R	G1158R	Pathogenic/Likely pathogenic	1	2	9	62
MUT:COL3A1:Gly1158Asp	PROT:P02461	COL3A1	G	1158	D	G1158D	Pathogenic	1	1	9	62
MUT:COL3A1:Gly1161Glu	PROT:P02461	COL3A1	G	1161	E	G1161E	Likely pathogenic	1	1	9	59
MUT:COL3A1:Gly1161Val	PROT:P02461	COL3A1	G	1161	V	G1161V	Pathogenic	1	1	9	59
MUT:COL3A1:Gly1164Arg	PROT:P02461	COL3A1	G	1164	R	G1164R	Pathogenic	1	1	9	56
MUT:COL3A1:Gly1164Glu	PROT:P02461	COL3A1	G	1164	E	G1164E	Likely pathogenic	1	1	9	56
MUT:COL3A1:Gly1164Trp	PROT:P02461	COL3A1	G	1164	W	G1164W	Pathogenic	1	1	9	56
MUT:COL3A1:Gly1164Val	PROT:P02461	COL3A1	G	1164	V	G1164V	Pathogenic	1	1	9	56
MUT:COL3A1:Gly1167Arg	PROT:P02461	COL3A1	G	1167	R	G1167R	Likely pathogenic	1	2	9	53
MUT:COL3A1:Gly1167Asp	PROT:P02461	COL3A1	G	1167	D	G1167D	Pathogenic/Likely pathogenic	1	2	9	53
MUT:COL3A1:Gly1167Cys	PROT:P02461	COL3A1	G	1167	C	G1167C	Likely pathogenic	1	2	9	53
MUT:COL3A1:Gly1167Val	PROT:P02461	COL3A1	G	1167	V	G1167V	Pathogenic	1	1	9	53
MUT:COL3A1:Gly1170Asp	PROT:P02461	COL3A1	G	1170	D	G1170D	Pathogenic	1	1	9	50
MUT:COL3A1:Gly1170Ser	PROT:P02461	COL3A1	G	1170	S	G1170S	Pathogenic/Likely pathogenic	1	2	9	50
MUT:COL3A1:Gly1170Val	PROT:P02461	COL3A1	G	1170	V	G1170V	Pathogenic	1	1	9	50
MUT:COL3A1:Gly1173Arg	PROT:P02461	COL3A1	G	1173	R	G1173R	Likely pathogenic	1	1	9	47
MUT:COL3A1:Gly1173Glu	PROT:P02461	COL3A1	G	1173	E	G1173E	Likely pathogenic	1	1	9	47
MUT:COL3A1:Gly1173Val	PROT:P02461	COL3A1	G	1173	V	G1173V	Pathogenic	1	1	9	47
MUT:COL3A1:Gly1176Asp	PROT:P02461	COL3A1	G	1176	D	G1176D	Pathogenic	1	1	9	44
MUT:COL3A1:Gly1176Glu	PROT:P02461	COL3A1	G	1176	E	G1176E	Pathogenic	1	1	9	44
MUT:COL3A1:Gly1179Arg	PROT:P02461	COL3A1	G	1179	R	G1179R	Pathogenic	1	1	9	41
MUT:COL3A1:Gly1179Val	PROT:P02461	COL3A1	G	1179	V	G1179V	Likely pathogenic	1	1	9	41
MUT:COL3A1:Gly1182Arg	PROT:P02461	COL3A1	G	1182	R	G1182R	Pathogenic	1	1	9	38
MUT:COL3A1:Gly1182Glu	PROT:P02461	COL3A1	G	1182	E	G1182E	Pathogenic	1	1	9	38
MUT:COL3A1:Gly1182Val	PROT:P02461	COL3A1	G	1182	V	G1182V	Pathogenic	1	1	9	38
MUT:COL3A1:Gly1185Asp	PROT:P02461	COL3A1	G	1185	D	G1185D	Likely pathogenic	1	1	9	35
MUT:COL3A1:Gly1185Val	PROT:P02461	COL3A1	G	1185	V	G1185V	Pathogenic	1	1	9	35
MUT:COL3A1:Gly1188Arg	PROT:P02461	COL3A1	G	1188	R	G1188R	Pathogenic	1	2	9	32
MUT:COL3A1:Gly1188Glu	PROT:P02461	COL3A1	G	1188	E	G1188E	Likely pathogenic	1	1	9	32
MUT:COL3A1:Gly1191Asp	PROT:P02461	COL3A1	G	1191	D	G1191D	Likely pathogenic	1	1	9	29
MUT:COL3A1:Gly1191Val	PROT:P02461	COL3A1	G	1191	V	G1191V	Likely pathogenic	1	1	9	29
MUT:COL3A1:Gly1194Asp	PROT:P02461	COL3A1	G	1194	D	G1194D	Likely pathogenic	1	1	9	26
MUT:COL3A1:Gly1284Glu	PROT:P02461	COL3A1	G	1284	E	G1284E	Likely pathogenic	1	1	9	47
MUT:COL3A1:Gly136Arg	PROT:P02461	COL3A1	G	136	R	G136R	Pathogenic	1	1	9	7
MUT:COL3A1:Gly171Ser	PROT:P02461	COL3A1	G	171	S	G171S	Likely pathogenic	1	2	9	28
MUT:COL3A1:Gly177Ala	PROT:P02461	COL3A1	G	177	A	G177A	Likely pathogenic	1	2	9	34
MUT:COL3A1:Gly177Ser	PROT:P02461	COL3A1	G	177	S	G177S	Likely pathogenic	1	1	9	34
MUT:COL3A1:Gly177Val	PROT:P02461	COL3A1	G	177	V	G177V	Likely pathogenic	1	1	9	34
MUT:COL3A1:Gly180Asp	PROT:P02461	COL3A1	G	180	D	G180D	Likely pathogenic	1	1	9	37
MUT:COL3A1:Gly183Ala	PROT:P02461	COL3A1	G	183	A	G183A	Pathogenic	1	1	9	40
MUT:COL3A1:Gly183Arg	PROT:P02461	COL3A1	G	183	R	G183R	Pathogenic	1	1	9	40
MUT:COL3A1:Gly183Asp	PROT:P02461	COL3A1	G	183	D	G183D	Pathogenic	1	1	9	40
MUT:COL3A1:Gly183Cys	PROT:P02461	COL3A1	G	183	C	G183C	Pathogenic	1	1	9	40
MUT:COL3A1:Gly183Ser	PROT:P02461	COL3A1	G	183	S	G183S	Pathogenic/Likely pathogenic	1	2	9	40
MUT:COL3A1:Gly183Val	PROT:P02461	COL3A1	G	183	V	G183V	Pathogenic	1	1	9	40
MUT:COL3A1:Gly186Ser	PROT:P02461	COL3A1	G	186	S	G186S	Pathogenic	1	1	9	43
MUT:COL3A1:Gly189Arg	PROT:P02461	COL3A1	G	189	R	G189R	Pathogenic	1	1	9	46
MUT:COL3A1:Gly189Ser	PROT:P02461	COL3A1	G	189	S	G189S	Likely pathogenic	1	1	9	46
MUT:COL3A1:Gly192Val	PROT:P02461	COL3A1	G	192	V	G192V	Pathogenic	1	1	9	49
MUT:COL3A1:Gly195Arg	PROT:P02461	COL3A1	G	195	R	G195R	Pathogenic	1	2	9	52
MUT:COL3A1:Gly198Arg	PROT:P02461	COL3A1	G	198	R	G198R	Pathogenic	1	1	9	55
MUT:COL3A1:Gly198Glu	PROT:P02461	COL3A1	G	198	E	G198E	Likely pathogenic	1	1	9	55
MUT:COL3A1:Gly201Arg	PROT:P02461	COL3A1	G	201	R	G201R	Pathogenic	1	1	9	58
MUT:COL3A1:Gly204Asp	PROT:P02461	COL3A1	G	204	D	G204D	Pathogenic/Likely pathogenic	1	2	9	61
MUT:COL3A1:Gly204Cys	PROT:P02461	COL3A1	G	204	C	G204C	Likely pathogenic	1	1	9	61
MUT:COL3A1:Gly204Ser	PROT:P02461	COL3A1	G	204	S	G204S	Pathogenic	1	1	9	61
MUT:COL3A1:Gly207Arg	PROT:P02461	COL3A1	G	207	R	G207R	Pathogenic	1	1	9	64
MUT:COL3A1:Gly207Trp	PROT:P02461	COL3A1	G	207	W	G207W	Pathogenic	1	1	9	64
MUT:COL3A1:Gly207Val	PROT:P02461	COL3A1	G	207	V	G207V	Pathogenic	1	1	9	64
MUT:COL3A1:Gly210Val	PROT:P02461	COL3A1	G	210	V	G210V	Pathogenic	1	1	9	67
MUT:COL3A1:Gly213Asp	PROT:P02461	COL3A1	G	213	D	G213D	Pathogenic/Likely pathogenic	1	2	9	70
MUT:COL3A1:Gly213Ser	PROT:P02461	COL3A1	G	213	S	G213S	Pathogenic	1	1	9	70
MUT:COL3A1:Gly216Glu	PROT:P02461	COL3A1	G	216	E	G216E	Pathogenic/Likely pathogenic	1	2	9	73
MUT:COL3A1:Gly219Ala	PROT:P02461	COL3A1	G	219	A	G219A	Pathogenic	1	1	9	76
MUT:COL3A1:Gly219Asp	PROT:P02461	COL3A1	G	219	D	G219D	Likely pathogenic	1	1	9	76
MUT:COL3A1:Gly219Cys	PROT:P02461	COL3A1	G	219	C	G219C	Pathogenic	1	1	9	76
MUT:COL3A1:Gly222Asp	PROT:P02461	COL3A1	G	222	D	G222D	Pathogenic	1	2	9	79
MUT:COL3A1:Gly222Val	PROT:P02461	COL3A1	G	222	V	G222V	Pathogenic	1	2	9	79
MUT:COL3A1:Gly225Ala	PROT:P02461	COL3A1	G	225	A	G225A	Pathogenic/Likely pathogenic	1	3	9	82
MUT:COL3A1:Gly225Asp	PROT:P02461	COL3A1	G	225	D	G225D	Pathogenic	1	1	9	82
MUT:COL3A1:Gly225Val	PROT:P02461	COL3A1	G	225	V	G225V	Likely pathogenic	1	2	9	82
MUT:COL3A1:Gly228Arg	PROT:P02461	COL3A1	G	228	R	G228R	Pathogenic	1	1	9	85
MUT:COL3A1:Gly228Glu	PROT:P02461	COL3A1	G	228	E	G228E	Pathogenic	1	1	9	85
MUT:COL3A1:Gly231Arg	PROT:P02461	COL3A1	G	231	R	G231R	Likely pathogenic	1	1	9	88
MUT:COL3A1:Gly234Asp	PROT:P02461	COL3A1	G	234	D	G234D	Pathogenic	1	1	9	91
MUT:COL3A1:Gly237Arg	PROT:P02461	COL3A1	G	237	R	G237R	Pathogenic	1	2	9	94
MUT:COL3A1:Gly240Arg	PROT:P02461	COL3A1	G	240	R	G240R	Pathogenic	1	1	9	97
MUT:COL3A1:Gly243Arg	PROT:P02461	COL3A1	G	243	R	G243R	Likely pathogenic	1	1	9	100
MUT:COL3A1:Gly243Glu	PROT:P02461	COL3A1	G	243	E	G243E	Pathogenic	1	1	9	100
MUT:COL3A1:Gly243Val	PROT:P02461	COL3A1	G	243	V	G243V	Likely pathogenic	1	1	9	100
MUT:COL3A1:Gly246Glu	PROT:P02461	COL3A1	G	246	E	G246E	Pathogenic	1	1	9	103
MUT:COL3A1:Gly249Asp	PROT:P02461	COL3A1	G	249	D	G249D	Likely pathogenic	1	2	9	106
MUT:COL3A1:Gly249Ser	PROT:P02461	COL3A1	G	249	S	G249S	Likely pathogenic	1	1	9	106
MUT:COL3A1:Gly249Val	PROT:P02461	COL3A1	G	249	V	G249V	Pathogenic	1	1	9	106
MUT:COL3A1:Gly252Arg	PROT:P02461	COL3A1	G	252	R	G252R	Likely pathogenic	1	2	9	109
MUT:COL3A1:Gly252Asp	PROT:P02461	COL3A1	G	252	D	G252D	Pathogenic	1	1	9	109
MUT:COL3A1:Gly252Cys	PROT:P02461	COL3A1	G	252	C	G252C	Pathogenic/Likely pathogenic	1	1	9	109
MUT:COL3A1:Gly252Ser	PROT:P02461	COL3A1	G	252	S	G252S	Pathogenic/Likely pathogenic	1	2	9	109
MUT:COL3A1:Gly252Val	PROT:P02461	COL3A1	G	252	V	G252V	Pathogenic	1	1	9	109
MUT:COL3A1:Gly255Glu	PROT:P02461	COL3A1	G	255	E	G255E	Pathogenic	1	1	9	112
MUT:COL3A1:Gly255Trp	PROT:P02461	COL3A1	G	255	W	G255W	Likely pathogenic	1	1	9	112
MUT:COL3A1:Gly255Val	PROT:P02461	COL3A1	G	255	V	G255V	Pathogenic	1	1	9	112
MUT:COL3A1:Gly258Ala	PROT:P02461	COL3A1	G	258	A	G258A	Pathogenic/Likely pathogenic	1	1	9	115
MUT:COL3A1:Gly261Arg	PROT:P02461	COL3A1	G	261	R	G261R	Likely pathogenic	1	1	9	118
MUT:COL3A1:Gly261Asp	PROT:P02461	COL3A1	G	261	D	G261D	Pathogenic/Likely pathogenic	1	1	9	118
MUT:COL3A1:Gly261Ser	PROT:P02461	COL3A1	G	261	S	G261S	Pathogenic/Likely pathogenic	1	2	9	118
MUT:COL3A1:Gly264Arg	PROT:P02461	COL3A1	G	264	R	G264R	Pathogenic	1	1	9	121
MUT:COL3A1:Gly264Glu	PROT:P02461	COL3A1	G	264	E	G264E	Likely pathogenic	1	2	9	121
MUT:COL3A1:Gly267Ser	PROT:P02461	COL3A1	G	267	S	G267S	Pathogenic	1	1	9	124
MUT:COL3A1:Gly267Val	PROT:P02461	COL3A1	G	267	V	G267V	Pathogenic	1	1	9	124
MUT:COL3A1:Gly270Glu	PROT:P02461	COL3A1	G	270	E	G270E	Likely pathogenic	1	2	9	127
MUT:COL3A1:Gly273Glu	PROT:P02461	COL3A1	G	273	E	G273E	Likely pathogenic	1	1	9	130
MUT:COL3A1:Gly276Asp	PROT:P02461	COL3A1	G	276	D	G276D	Pathogenic	1	1	9	133
MUT:COL3A1:Gly276Ser	PROT:P02461	COL3A1	G	276	S	G276S	Pathogenic	1	1	9	133
MUT:COL3A1:Gly276Val	PROT:P02461	COL3A1	G	276	V	G276V	Likely pathogenic	1	1	9	133
MUT:COL3A1:Gly279Arg	PROT:P02461	COL3A1	G	279	R	G279R	Likely pathogenic	1	1	9	136
MUT:COL3A1:Gly279Asp	PROT:P02461	COL3A1	G	279	D	G279D	Pathogenic	1	2	9	136
MUT:COL3A1:Gly282Arg	PROT:P02461	COL3A1	G	282	R	G282R	Pathogenic	1	1	9	139
MUT:COL3A1:Gly282Val	PROT:P02461	COL3A1	G	282	V	G282V	Pathogenic	1	1	9	139
MUT:COL3A1:Gly288Cys	PROT:P02461	COL3A1	G	288	C	G288C	Likely pathogenic	1	1	9	145
MUT:COL3A1:Gly288Ser	PROT:P02461	COL3A1	G	288	S	G288S	Likely pathogenic	1	1	9	145
MUT:COL3A1:Gly291Ser	PROT:P02461	COL3A1	G	291	S	G291S	Likely pathogenic	1	1	9	148
MUT:COL3A1:Gly294Arg	PROT:P02461	COL3A1	G	294	R	G294R	Likely pathogenic	1	2	9	151
MUT:COL3A1:Gly297Arg	PROT:P02461	COL3A1	G	297	R	G297R	Likely pathogenic	1	1	9	154
MUT:COL3A1:Gly300Arg	PROT:P02461	COL3A1	G	300	R	G300R	Likely pathogenic	1	1	9	157
MUT:COL3A1:Gly300Asp	PROT:P02461	COL3A1	G	300	D	G300D	Pathogenic	1	1	9	157
MUT:COL3A1:Gly300Val	PROT:P02461	COL3A1	G	300	V	G300V	Likely pathogenic	1	2	9	157
MUT:COL3A1:Gly303Arg	PROT:P02461	COL3A1	G	303	R	G303R	Likely pathogenic	1	1	9	160
MUT:COL3A1:Gly309Glu	PROT:P02461	COL3A1	G	309	E	G309E	Likely pathogenic	1	1	9	166
MUT:COL3A1:Gly312Glu	PROT:P02461	COL3A1	G	312	E	G312E	Likely pathogenic	1	1	9	169
MUT:COL3A1:Gly315Val	PROT:P02461	COL3A1	G	315	V	G315V	Likely pathogenic	1	1	9	172
MUT:COL3A1:Gly318Asp	PROT:P02461	COL3A1	G	318	D	G318D	Pathogenic/Likely pathogenic	1	2	9	175
MUT:COL3A1:Gly318Cys	PROT:P02461	COL3A1	G	318	C	G318C	Likely pathogenic	1	1	9	175
MUT:COL3A1:Gly318Ser	PROT:P02461	COL3A1	G	318	S	G318S	Likely pathogenic	1	1	9	175
MUT:COL3A1:Gly321Asp	PROT:P02461	COL3A1	G	321	D	G321D	Pathogenic/Likely pathogenic	1	1	9	178
MUT:COL3A1:Gly321Ser	PROT:P02461	COL3A1	G	321	S	G321S	Likely pathogenic	1	1	9	178
MUT:COL3A1:Gly321Val	PROT:P02461	COL3A1	G	321	V	G321V	Pathogenic	1	1	9	178
MUT:COL3A1:Gly324Ser	PROT:P02461	COL3A1	G	324	S	G324S	Pathogenic/Likely pathogenic	1	2	9	181
MUT:COL3A1:Gly324Val	PROT:P02461	COL3A1	G	324	V	G324V	Likely pathogenic	1	1	9	181
MUT:COL3A1:Gly333Asp	PROT:P02461	COL3A1	G	333	D	G333D	Pathogenic/Likely pathogenic	1	1	9	190
MUT:COL3A1:Gly336Arg	PROT:P02461	COL3A1	G	336	R	G336R	Likely pathogenic	1	1	9	193
MUT:COL3A1:Gly336Ser	PROT:P02461	COL3A1	G	336	S	G336S	Likely pathogenic	1	1	9	193
MUT:COL3A1:Gly342Arg	PROT:P02461	COL3A1	G	342	R	G342R	Pathogenic/Likely pathogenic	1	2	9	199
MUT:COL3A1:Gly345Arg	PROT:P02461	COL3A1	G	345	R	G345R	Pathogenic	1	1	9	202
MUT:COL3A1:Gly351Ser	PROT:P02461	COL3A1	G	351	S	G351S	Likely pathogenic	1	1	9	208
MUT:COL3A1:Gly351Val	PROT:P02461	COL3A1	G	351	V	G351V	Pathogenic/Likely pathogenic	1	2	9	208
MUT:COL3A1:Gly360Asp	PROT:P02461	COL3A1	G	360	D	G360D	Pathogenic/Likely pathogenic	1	2	9	217
MUT:COL3A1:Gly360Val	PROT:P02461	COL3A1	G	360	V	G360V	Likely pathogenic	1	1	9	217
MUT:COL3A1:Gly363Ser	PROT:P02461	COL3A1	G	363	S	G363S	Likely pathogenic	1	1	9	220
MUT:COL3A1:Gly366Arg	PROT:P02461	COL3A1	G	366	R	G366R	Likely pathogenic	1	1	9	223
MUT:COL3A1:Gly369Arg	PROT:P02461	COL3A1	G	369	R	G369R	Likely pathogenic	1	1	9	226
MUT:COL3A1:Gly369Val	PROT:P02461	COL3A1	G	369	V	G369V	Likely pathogenic	1	1	9	226
MUT:COL3A1:Gly372Val	PROT:P02461	COL3A1	G	372	V	G372V	Pathogenic	1	1	9	229
MUT:COL3A1:Gly375Glu	PROT:P02461	COL3A1	G	375	E	G375E	Pathogenic	1	1	9	232
MUT:COL3A1:Gly378Asp	PROT:P02461	COL3A1	G	378	D	G378D	Likely pathogenic	1	2	9	235
MUT:COL3A1:Gly381Asp	PROT:P02461	COL3A1	G	381	D	G381D	Pathogenic	1	1	9	238
MUT:COL3A1:Gly381Val	PROT:P02461	COL3A1	G	381	V	G381V	Likely pathogenic	1	2	9	238
MUT:COL3A1:Gly384Arg	PROT:P02461	COL3A1	G	384	R	G384R	Likely pathogenic	1	1	9	241
MUT:COL3A1:Gly384Asp	PROT:P02461	COL3A1	G	384	D	G384D	Likely pathogenic	1	1	9	241
MUT:COL3A1:Gly387Val	PROT:P02461	COL3A1	G	387	V	G387V	Likely pathogenic	1	1	9	244
MUT:COL3A1:Gly393Asp	PROT:P02461	COL3A1	G	393	D	G393D	Likely pathogenic	1	1	9	250
MUT:COL3A1:Gly393Val	PROT:P02461	COL3A1	G	393	V	G393V	Likely pathogenic	1	1	9	250
MUT:COL3A1:Gly396Asp	PROT:P02461	COL3A1	G	396	D	G396D	Likely pathogenic	1	1	9	253
MUT:COL3A1:Gly396Ser	PROT:P02461	COL3A1	G	396	S	G396S	Likely pathogenic	1	1	9	253
MUT:COL3A1:Gly399Ala	PROT:P02461	COL3A1	G	399	A	G399A	Likely pathogenic	1	1	9	256
MUT:COL3A1:Gly402Ser	PROT:P02461	COL3A1	G	402	S	G402S	Likely pathogenic	1	1	9	259
MUT:COL3A1:Gly405Arg	PROT:P02461	COL3A1	G	405	R	G405R	Likely pathogenic	1	2	9	262
MUT:COL3A1:Gly408Val	PROT:P02461	COL3A1	G	408	V	G408V	Likely pathogenic	1	1	9	265
MUT:COL3A1:Gly411Arg	PROT:P02461	COL3A1	G	411	R	G411R	Likely pathogenic	1	2	9	268
MUT:COL3A1:Gly414Asp	PROT:P02461	COL3A1	G	414	D	G414D	Likely pathogenic	1	2	9	271
MUT:COL3A1:Gly414Cys	PROT:P02461	COL3A1	G	414	C	G414C	Pathogenic	1	1	9	271
MUT:COL3A1:Gly414Ser	PROT:P02461	COL3A1	G	414	S	G414S	Likely pathogenic	1	1	9	271
MUT:COL3A1:Gly414Val	PROT:P02461	COL3A1	G	414	V	G414V	Likely pathogenic	1	1	9	271
MUT:COL3A1:Gly417Arg	PROT:P02461	COL3A1	G	417	R	G417R	Likely pathogenic	1	1	9	274
MUT:COL3A1:Gly420Ser	PROT:P02461	COL3A1	G	420	S	G420S	Pathogenic/Likely pathogenic	1	3	9	277
MUT:COL3A1:Gly423Ala	PROT:P02461	COL3A1	G	423	A	G423A	Likely pathogenic	1	2	9	280
MUT:COL3A1:Gly423Asp	PROT:P02461	COL3A1	G	423	D	G423D	Pathogenic	1	1	9	280
MUT:COL3A1:Gly423Ser	PROT:P02461	COL3A1	G	423	S	G423S	Pathogenic/Likely pathogenic	1	1	9	280
MUT:COL3A1:Gly426Glu	PROT:P02461	COL3A1	G	426	E	G426E	Likely pathogenic	1	1	9	283
MUT:COL3A1:Gly426Val	PROT:P02461	COL3A1	G	426	V	G426V	Likely pathogenic	1	1	9	283
MUT:COL3A1:Gly432Asp	PROT:P02461	COL3A1	G	432	D	G432D	Likely pathogenic	1	2	9	289
MUT:COL3A1:Gly435Asp	PROT:P02461	COL3A1	G	435	D	G435D	Pathogenic	1	2	9	292
MUT:COL3A1:Gly435Cys	PROT:P02461	COL3A1	G	435	C	G435C	Likely pathogenic	1	1	9	292
MUT:COL3A1:Gly435Ser	PROT:P02461	COL3A1	G	435	S	G435S	Likely pathogenic	1	2	9	292
MUT:COL3A1:Gly438Asp	PROT:P02461	COL3A1	G	438	D	G438D	Likely pathogenic	1	1	9	295
MUT:COL3A1:Gly441Arg	PROT:P02461	COL3A1	G	441	R	G441R	Likely pathogenic	1	2	9	298
MUT:COL3A1:Gly441Glu	PROT:P02461	COL3A1	G	441	E	G441E	Likely pathogenic	1	1	9	298
MUT:COL3A1:Gly444Arg	PROT:P02461	COL3A1	G	444	R	G444R	Pathogenic/Likely pathogenic	1	2	9	301
MUT:COL3A1:Gly447Asp	PROT:P02461	COL3A1	G	447	D	G447D	Pathogenic	1	1	9	304
MUT:COL3A1:Gly447Cys	PROT:P02461	COL3A1	G	447	C	G447C	Likely pathogenic	1	1	9	304
MUT:COL3A1:Gly450Val	PROT:P02461	COL3A1	G	450	V	G450V	Likely pathogenic	1	1	9	307
MUT:COL3A1:Gly453Asp	PROT:P02461	COL3A1	G	453	D	G453D	Pathogenic	1	1	9	304
MUT:COL3A1:Gly453Cys	PROT:P02461	COL3A1	G	453	C	G453C	Likely pathogenic	1	1	9	304
MUT:COL3A1:Gly456Ser	PROT:P02461	COL3A1	G	456	S	G456S	Likely pathogenic	1	2	9	301
MUT:COL3A1:Gly462Ser	PROT:P02461	COL3A1	G	462	S	G462S	Likely pathogenic	1	1	9	295
MUT:COL3A1:Gly471Glu	PROT:P02461	COL3A1	G	471	E	G471E	Pathogenic	1	1	9	286
MUT:COL3A1:Gly474Asp	PROT:P02461	COL3A1	G	474	D	G474D	Likely pathogenic	1	1	9	283
MUT:COL3A1:Gly474Val	PROT:P02461	COL3A1	G	474	V	G474V	Likely pathogenic	1	1	9	283
MUT:COL3A1:Gly477Glu	PROT:P02461	COL3A1	G	477	E	G477E	Likely pathogenic	1	1	9	280
MUT:COL3A1:Gly477Trp	PROT:P02461	COL3A1	G	477	W	G477W	Likely pathogenic	1	1	9	280
MUT:COL3A1:Gly480Arg	PROT:P02461	COL3A1	G	480	R	G480R	Likely pathogenic	1	1	9	277
MUT:COL3A1:Gly486Asp	PROT:P02461	COL3A1	G	486	D	G486D	Likely pathogenic	1	1	9	271
MUT:COL3A1:Gly486Val	PROT:P02461	COL3A1	G	486	V	G486V	Pathogenic	1	1	9	271
MUT:COL3A1:Gly489Glu	PROT:P02461	COL3A1	G	489	E	G489E	Likely pathogenic	1	2	9	268
MUT:COL3A1:Gly489Trp	PROT:P02461	COL3A1	G	489	W	G489W	Likely pathogenic	1	1	9	268
MUT:COL3A1:Gly492Glu	PROT:P02461	COL3A1	G	492	E	G492E	Pathogenic	1	1	9	265
MUT:COL3A1:Gly492Val	PROT:P02461	COL3A1	G	492	V	G492V	Likely pathogenic	1	2	9	265
MUT:COL3A1:Gly495Glu	PROT:P02461	COL3A1	G	495	E	G495E	Likely pathogenic	1	1	9	262
MUT:COL3A1:Gly501Ala	PROT:P02461	COL3A1	G	501	A	G501A	Likely pathogenic	1	1	9	256
MUT:COL3A1:Gly501Arg	PROT:P02461	COL3A1	G	501	R	G501R	Pathogenic	1	1	9	256
MUT:COL3A1:Gly501Glu	PROT:P02461	COL3A1	G	501	E	G501E	Pathogenic	1	1	9	256
MUT:COL3A1:Gly504Val	PROT:P02461	COL3A1	G	504	V	G504V	Pathogenic	1	1	9	253
MUT:COL3A1:Gly513Ser	PROT:P02461	COL3A1	G	513	S	G513S	Likely pathogenic	1	1	9	244
MUT:COL3A1:Gly519Glu	PROT:P02461	COL3A1	G	519	E	G519E	Pathogenic	1	1	9	238
MUT:COL3A1:Gly531Ala	PROT:P02461	COL3A1	G	531	A	G531A	Likely pathogenic	1	1	9	226
MUT:COL3A1:Gly537Ser	PROT:P02461	COL3A1	G	537	S	G537S	Likely pathogenic	1	1	9	220
MUT:COL3A1:Gly537Val	PROT:P02461	COL3A1	G	537	V	G537V	Likely pathogenic	1	1	9	220
MUT:COL3A1:Gly540Arg	PROT:P02461	COL3A1	G	540	R	G540R	Pathogenic/Likely pathogenic	1	2	9	217
MUT:COL3A1:Gly546Arg	PROT:P02461	COL3A1	G	546	R	G546R	Likely pathogenic	1	1	9	211
MUT:COL3A1:Gly549Glu	PROT:P02461	COL3A1	G	549	E	G549E	Likely pathogenic	1	1	9	208
MUT:COL3A1:Gly552Arg	PROT:P02461	COL3A1	G	552	R	G552R	Pathogenic	1	1	9	205
MUT:COL3A1:Gly552Glu	PROT:P02461	COL3A1	G	552	E	G552E	Pathogenic	1	1	9	205
MUT:COL3A1:Gly555Arg	PROT:P02461	COL3A1	G	555	R	G555R	Likely pathogenic	1	1	9	202
MUT:COL3A1:Gly564Ala	PROT:P02461	COL3A1	G	564	A	G564A	Likely pathogenic	1	1	9	193
MUT:COL3A1:Gly564Asp	PROT:P02461	COL3A1	G	564	D	G564D	Pathogenic	1	1	9	193
MUT:COL3A1:Gly564Val	PROT:P02461	COL3A1	G	564	V	G564V	Likely pathogenic	1	1	9	193
MUT:COL3A1:Gly567Glu	PROT:P02461	COL3A1	G	567	E	G567E	Pathogenic	1	1	9	190
MUT:COL3A1:Gly570Asp	PROT:P02461	COL3A1	G	570	D	G570D	Likely pathogenic	1	2	9	187
MUT:COL3A1:Gly570Ser	PROT:P02461	COL3A1	G	570	S	G570S	Likely pathogenic	1	2	9	187
MUT:COL3A1:Gly573Asp	PROT:P02461	COL3A1	G	573	D	G573D	Likely pathogenic	1	1	9	184
MUT:COL3A1:Gly576Asp	PROT:P02461	COL3A1	G	576	D	G576D	Likely pathogenic	1	1	9	181
MUT:COL3A1:Gly576Cys	PROT:P02461	COL3A1	G	576	C	G576C	Likely pathogenic	1	1	9	181
MUT:COL3A1:Gly579Val	PROT:P02461	COL3A1	G	579	V	G579V	Likely pathogenic	1	1	9	178
MUT:COL3A1:Gly582Arg	PROT:P02461	COL3A1	G	582	R	G582R	Pathogenic	1	1	9	175
MUT:COL3A1:Gly582Asp	PROT:P02461	COL3A1	G	582	D	G582D	Likely pathogenic	1	1	9	175
MUT:COL3A1:Gly582Cys	PROT:P02461	COL3A1	G	582	C	G582C	Likely pathogenic	1	1	9	175
MUT:COL3A1:Gly582Ser	PROT:P02461	COL3A1	G	582	S	G582S	Pathogenic	1	3	9	175
MUT:COL3A1:Gly588Asp	PROT:P02461	COL3A1	G	588	D	G588D	Pathogenic/Likely pathogenic	1	2	9	169
MUT:COL3A1:Gly588Ser	PROT:P02461	COL3A1	G	588	S	G588S	Pathogenic/Likely pathogenic	1	2	9	169
MUT:COL3A1:Gly588Val	PROT:P02461	COL3A1	G	588	V	G588V	Pathogenic/Likely pathogenic	1	1	9	169
MUT:COL3A1:Gly591Ala	PROT:P02461	COL3A1	G	591	A	G591A	Likely pathogenic	1	1	9	166
MUT:COL3A1:Gly591Cys	PROT:P02461	COL3A1	G	591	C	G591C	Likely pathogenic	1	1	9	166
MUT:COL3A1:Gly594Ala	PROT:P02461	COL3A1	G	594	A	G594A	Likely pathogenic	1	1	9	163
MUT:COL3A1:Gly597Ser	PROT:P02461	COL3A1	G	597	S	G597S	Likely pathogenic	1	1	9	160
MUT:COL3A1:Gly603Asp	PROT:P02461	COL3A1	G	603	D	G603D	Pathogenic	1	1	9	154
MUT:COL3A1:Gly603Ser	PROT:P02461	COL3A1	G	603	S	G603S	Likely pathogenic	1	1	9	154
MUT:COL3A1:Gly603Val	PROT:P02461	COL3A1	G	603	V	G603V	Likely pathogenic	1	1	9	154
MUT:COL3A1:Gly606Arg	PROT:P02461	COL3A1	G	606	R	G606R	Pathogenic	1	1	9	151
MUT:COL3A1:Gly606Asp	PROT:P02461	COL3A1	G	606	D	G606D	Likely pathogenic	1	1	9	151
MUT:COL3A1:Gly606Cys	PROT:P02461	COL3A1	G	606	C	G606C	Likely pathogenic	1	2	9	151
MUT:COL3A1:Gly609Glu	PROT:P02461	COL3A1	G	609	E	G609E	Likely pathogenic	1	1	9	148
MUT:COL3A1:Gly609Val	PROT:P02461	COL3A1	G	609	V	G609V	Likely pathogenic	1	1	9	148
MUT:COL3A1:Gly612Ala	PROT:P02461	COL3A1	G	612	A	G612A	Likely pathogenic	1	1	9	145
MUT:COL3A1:Gly612Ser	PROT:P02461	COL3A1	G	612	S	G612S	Likely pathogenic	1	1	9	145
MUT:COL3A1:Gly615Glu	PROT:P02461	COL3A1	G	615	E	G615E	Pathogenic	1	1	9	142
MUT:COL3A1:Gly618Glu	PROT:P02461	COL3A1	G	618	E	G618E	Likely pathogenic	1	2	9	139
MUT:COL3A1:Gly618Val	PROT:P02461	COL3A1	G	618	V	G618V	Pathogenic/Likely pathogenic	1	2	9	139
MUT:COL3A1:Gly621Arg	PROT:P02461	COL3A1	G	621	R	G621R	Pathogenic	1	1	9	136
MUT:COL3A1:Gly621Glu	PROT:P02461	COL3A1	G	621	E	G621E	Likely pathogenic	1	1	9	136
MUT:COL3A1:Gly621Trp	PROT:P02461	COL3A1	G	621	W	G621W	Pathogenic	1	1	9	136
MUT:COL3A1:Gly621Val	PROT:P02461	COL3A1	G	621	V	G621V	Pathogenic	1	1	9	136
MUT:COL3A1:Gly624Glu	PROT:P02461	COL3A1	G	624	E	G624E	Pathogenic/Likely pathogenic	1	2	9	133
MUT:COL3A1:Gly633Arg	PROT:P02461	COL3A1	G	633	R	G633R	Pathogenic	1	2	9	124
MUT:COL3A1:Gly633Glu	PROT:P02461	COL3A1	G	633	E	G633E	Pathogenic	1	1	9	124
MUT:COL3A1:Gly636Arg	PROT:P02461	COL3A1	G	636	R	G636R	Pathogenic	1	1	9	121
MUT:COL3A1:Gly639Arg	PROT:P02461	COL3A1	G	639	R	G639R	Pathogenic	1	1	9	118
MUT:COL3A1:Gly639Glu	PROT:P02461	COL3A1	G	639	E	G639E	Pathogenic	1	1	9	118
MUT:COL3A1:Gly642Val	PROT:P02461	COL3A1	G	642	V	G642V	Pathogenic	1	1	9	115
MUT:COL3A1:Gly648Ser	PROT:P02461	COL3A1	G	648	S	G648S	Likely pathogenic	1	1	9	109
MUT:COL3A1:Gly654Ala	PROT:P02461	COL3A1	G	654	A	G654A	Likely pathogenic	1	1	9	103
MUT:COL3A1:Gly654Glu	PROT:P02461	COL3A1	G	654	E	G654E	Likely pathogenic	1	2	9	103
MUT:COL3A1:Gly657Glu	PROT:P02461	COL3A1	G	657	E	G657E	Pathogenic	1	1	9	100
MUT:COL3A1:Gly660Arg	PROT:P02461	COL3A1	G	660	R	G660R	Likely pathogenic	1	1	9	97
MUT:COL3A1:Gly660Asp	PROT:P02461	COL3A1	G	660	D	G660D	Pathogenic	1	1	9	97
MUT:COL3A1:Gly660Ser	PROT:P02461	COL3A1	G	660	S	G660S	Likely pathogenic	1	1	9	97
MUT:COL3A1:Gly663Arg	PROT:P02461	COL3A1	G	663	R	G663R	Pathogenic	1	1	9	94
MUT:COL3A1:Gly663Asp	PROT:P02461	COL3A1	G	663	D	G663D	Pathogenic	1	1	9	94
MUT:COL3A1:Gly663Ser	PROT:P02461	COL3A1	G	663	S	G663S	Likely pathogenic	1	2	9	94
MUT:COL3A1:Gly663Val	PROT:P02461	COL3A1	G	663	V	G663V	Pathogenic/Likely pathogenic	1	1	9	94
MUT:COL3A1:Gly666Asp	PROT:P02461	COL3A1	G	666	D	G666D	Likely pathogenic	1	1	9	91
MUT:COL3A1:Gly666Ser	PROT:P02461	COL3A1	G	666	S	G666S	Pathogenic/Likely pathogenic	1	2	9	91
MUT:COL3A1:Gly675Asp	PROT:P02461	COL3A1	G	675	D	G675D	Likely pathogenic	1	1	9	82
MUT:COL3A1:Gly675Ser	PROT:P02461	COL3A1	G	675	S	G675S	Likely pathogenic	1	1	9	82
MUT:COL3A1:Gly675Val	PROT:P02461	COL3A1	G	675	V	G675V	Likely pathogenic	1	1	9	82
MUT:COL3A1:Gly678Arg	PROT:P02461	COL3A1	G	678	R	G678R	Likely pathogenic	1	1	9	79
MUT:COL3A1:Gly678Cys	PROT:P02461	COL3A1	G	678	C	G678C	Likely pathogenic	1	1	9	79
MUT:COL3A1:Gly681Asp	PROT:P02461	COL3A1	G	681	D	G681D	Likely pathogenic	1	1	9	76
MUT:COL3A1:Gly684Arg	PROT:P02461	COL3A1	G	684	R	G684R	Likely pathogenic	1	1	9	73
MUT:COL3A1:Gly684Glu	PROT:P02461	COL3A1	G	684	E	G684E	Pathogenic/Likely pathogenic	1	2	9	73
MUT:COL3A1:Gly684Val	PROT:P02461	COL3A1	G	684	V	G684V	Pathogenic	1	1	9	73
MUT:COL3A1:Gly687Ala	PROT:P02461	COL3A1	G	687	A	G687A	Likely pathogenic	1	1	9	70
MUT:COL3A1:Gly687Arg	PROT:P02461	COL3A1	G	687	R	G687R	Pathogenic	1	2	9	70
MUT:COL3A1:Gly690Arg	PROT:P02461	COL3A1	G	690	R	G690R	Pathogenic	1	1	9	67
MUT:COL3A1:Gly690Glu	PROT:P02461	COL3A1	G	690	E	G690E	Likely pathogenic	1	1	9	67
MUT:COL3A1:Gly690Val	PROT:P02461	COL3A1	G	690	V	G690V	Pathogenic	1	1	9	67
MUT:COL3A1:Gly693Ala	PROT:P02461	COL3A1	G	693	A	G693A	Likely pathogenic	1	2	9	64
MUT:COL3A1:Gly693Glu	PROT:P02461	COL3A1	G	693	E	G693E	Pathogenic	1	1	9	64
MUT:COL3A1:Gly693Val	PROT:P02461	COL3A1	G	693	V	G693V	Pathogenic	1	1	9	64
MUT:COL3A1:Gly696Asp	PROT:P02461	COL3A1	G	696	D	G696D	Pathogenic	1	1	9	61
MUT:COL3A1:Gly699Arg	PROT:P02461	COL3A1	G	699	R	G699R	Pathogenic	1	1	9	58
MUT:COL3A1:Gly699Asp	PROT:P02461	COL3A1	G	699	D	G699D	Pathogenic	1	2	9	58
MUT:COL3A1:Gly699Cys	PROT:P02461	COL3A1	G	699	C	G699C	Likely pathogenic	1	1	9	58
MUT:COL3A1:Gly702Ala	PROT:P02461	COL3A1	G	702	A	G702A	Likely pathogenic	1	1	9	55
MUT:COL3A1:Gly702Asp	PROT:P02461	COL3A1	G	702	D	G702D	Pathogenic	1	1	9	55
MUT:COL3A1:Gly702Ser	PROT:P02461	COL3A1	G	702	S	G702S	Pathogenic	1	1	9	55
MUT:COL3A1:Gly702Val	PROT:P02461	COL3A1	G	702	V	G702V	Likely pathogenic	1	1	9	55
MUT:COL3A1:Gly705Arg	PROT:P02461	COL3A1	G	705	R	G705R	Likely pathogenic	1	2	9	52
MUT:COL3A1:Gly705Glu	PROT:P02461	COL3A1	G	705	E	G705E	Likely pathogenic	1	1	9	52
MUT:COL3A1:Gly708Asp	PROT:P02461	COL3A1	G	708	D	G708D	Likely pathogenic	1	2	9	49
MUT:COL3A1:Gly708Ser	PROT:P02461	COL3A1	G	708	S	G708S	Likely pathogenic	1	1	9	49
MUT:COL3A1:Gly708Val	PROT:P02461	COL3A1	G	708	V	G708V	Pathogenic	1	1	9	49
MUT:COL3A1:Gly711Ser	PROT:P02461	COL3A1	G	711	S	G711S	Pathogenic	1	2	9	46
MUT:COL3A1:Gly714Arg	PROT:P02461	COL3A1	G	714	R	G714R	Likely pathogenic	1	1	9	43
MUT:COL3A1:Gly714Glu	PROT:P02461	COL3A1	G	714	E	G714E	Pathogenic	1	1	9	43
MUT:COL3A1:Gly714Val	PROT:P02461	COL3A1	G	714	V	G714V	Likely pathogenic	1	1	9	43
MUT:COL3A1:Gly717Arg	PROT:P02461	COL3A1	G	717	R	G717R	Likely pathogenic	1	1	9	40
MUT:COL3A1:Gly717Asp	PROT:P02461	COL3A1	G	717	D	G717D	Pathogenic/Likely pathogenic	1	1	9	40
MUT:COL3A1:Gly720Asp	PROT:P02461	COL3A1	G	720	D	G720D	Likely pathogenic	1	1	9	37
MUT:COL3A1:Gly723Asp	PROT:P02461	COL3A1	G	723	D	G723D	Pathogenic	1	1	9	34
MUT:COL3A1:Gly726Arg	PROT:P02461	COL3A1	G	726	R	G726R	Pathogenic	1	1	9	31
MUT:COL3A1:Gly726Glu	PROT:P02461	COL3A1	G	726	E	G726E	Pathogenic	1	1	9	31
MUT:COL3A1:Gly729Ala	PROT:P02461	COL3A1	G	729	A	G729A	Likely pathogenic	1	1	9	28
MUT:COL3A1:Gly729Arg	PROT:P02461	COL3A1	G	729	R	G729R	Pathogenic	1	1	9	28
MUT:COL3A1:Gly729Glu	PROT:P02461	COL3A1	G	729	E	G729E	Pathogenic	1	1	9	28
MUT:COL3A1:Gly732Arg	PROT:P02461	COL3A1	G	732	R	G732R	Pathogenic/Likely pathogenic	1	1	9	25
MUT:COL3A1:Gly735Arg	PROT:P02461	COL3A1	G	735	R	G735R	Likely pathogenic	1	1	9	22
MUT:COL3A1:Gly738Arg	PROT:P02461	COL3A1	G	738	R	G738R	Likely pathogenic	1	1	9	19
MUT:COL3A1:Gly738Cys	PROT:P02461	COL3A1	G	738	C	G738C	Pathogenic	1	1	9	19
MUT:COL3A1:Gly738Ser	PROT:P02461	COL3A1	G	738	S	G738S	Pathogenic	1	1	9	19
MUT:COL3A1:Gly738Val	PROT:P02461	COL3A1	G	738	V	G738V	Pathogenic	1	1	9	19
MUT:COL3A1:Gly741Asp	PROT:P02461	COL3A1	G	741	D	G741D	Pathogenic/Likely pathogenic	1	2	9	16
MUT:COL3A1:Gly741Cys	PROT:P02461	COL3A1	G	741	C	G741C	Pathogenic	1	1	9	16
MUT:COL3A1:Gly741Ser	PROT:P02461	COL3A1	G	741	S	G741S	Pathogenic/Likely pathogenic	1	2	9	16
MUT:COL3A1:Gly744Arg	PROT:P02461	COL3A1	G	744	R	G744R	Pathogenic	1	1	9	13
MUT:COL3A1:Gly744Cys	PROT:P02461	COL3A1	G	744	C	G744C	Pathogenic/Likely pathogenic	1	2	9	13
MUT:COL3A1:Gly744Val	PROT:P02461	COL3A1	G	744	V	G744V	Pathogenic	1	1	9	13
MUT:COL3A1:Gly747Asp	PROT:P02461	COL3A1	G	747	D	G747D	Likely pathogenic	1	1	9	10
MUT:COL3A1:Gly747Val	PROT:P02461	COL3A1	G	747	V	G747V	Likely pathogenic	1	1	9	10
MUT:COL3A1:Gly750Arg	PROT:P02461	COL3A1	G	750	R	G750R	Likely pathogenic	1	2	9	7
MUT:COL3A1:Gly753Cys	PROT:P02461	COL3A1	G	753	C	G753C	Likely pathogenic	1	1	9	4
MUT:COL3A1:Gly753Ser	PROT:P02461	COL3A1	G	753	S	G753S	Likely pathogenic	1	1	9	4
MUT:COL3A1:Gly756Arg	PROT:P02461	COL3A1	G	756	R	G756R	Likely pathogenic	1	1	9	1
MUT:COL3A1:Gly756Glu	PROT:P02461	COL3A1	G	756	E	G756E	Pathogenic/Likely pathogenic	1	1	9	1
MUT:COL3A1:Gly759Asp	PROT:P02461	COL3A1	G	759	D	G759D	Likely pathogenic	1	1	9	2
MUT:COL3A1:Gly762Arg	PROT:P02461	COL3A1	G	762	R	G762R	Pathogenic	1	1	9	5
MUT:COL3A1:Gly762Asp	PROT:P02461	COL3A1	G	762	D	G762D	Pathogenic	1	2	9	5
MUT:COL3A1:Gly762Cys	PROT:P02461	COL3A1	G	762	C	G762C	Likely pathogenic	1	1	9	5
MUT:COL3A1:Gly762Ser	PROT:P02461	COL3A1	G	762	S	G762S	Pathogenic	1	1	9	5
MUT:COL3A1:Gly762Val	PROT:P02461	COL3A1	G	762	V	G762V	Likely pathogenic	1	1	9	5
MUT:COL3A1:Gly765Ser	PROT:P02461	COL3A1	G	765	S	G765S	Pathogenic	1	1	9	8
MUT:COL3A1:Gly765Val	PROT:P02461	COL3A1	G	765	V	G765V	Pathogenic	1	1	9	8
MUT:COL3A1:Gly768Arg	PROT:P02461	COL3A1	G	768	R	G768R	Likely pathogenic	1	1	9	11
MUT:COL3A1:Gly771Asp	PROT:P02461	COL3A1	G	771	D	G771D	Likely pathogenic	1	1	9	14
MUT:COL3A1:Gly774Asp	PROT:P02461	COL3A1	G	774	D	G774D	Likely pathogenic	1	1	9	17
MUT:COL3A1:Gly786Arg	PROT:P02461	COL3A1	G	786	R	G786R	Pathogenic/Likely pathogenic	1	2	9	29
MUT:COL3A1:Gly786Val	PROT:P02461	COL3A1	G	786	V	G786V	Pathogenic	1	1	9	29
MUT:COL3A1:Gly789Ala	PROT:P02461	COL3A1	G	789	A	G789A	Likely pathogenic	1	2	9	32
MUT:COL3A1:Gly795Arg	PROT:P02461	COL3A1	G	795	R	G795R	Likely pathogenic	1	1	9	38
MUT:COL3A1:Gly795Asp	PROT:P02461	COL3A1	G	795	D	G795D	Likely pathogenic	1	1	9	38
MUT:COL3A1:Gly795Cys	PROT:P02461	COL3A1	G	795	C	G795C	Likely pathogenic	1	1	9	38
MUT:COL3A1:Gly798Asp	PROT:P02461	COL3A1	G	798	D	G798D	Likely pathogenic	1	1	9	41
MUT:COL3A1:Gly801Asp	PROT:P02461	COL3A1	G	801	D	G801D	Pathogenic	1	2	9	44
MUT:COL3A1:Gly801Ser	PROT:P02461	COL3A1	G	801	S	G801S	Likely pathogenic	1	1	9	44
MUT:COL3A1:Gly804Ser	PROT:P02461	COL3A1	G	804	S	G804S	Pathogenic	1	1	9	47
MUT:COL3A1:Gly807Arg	PROT:P02461	COL3A1	G	807	R	G807R	Likely pathogenic	1	1	9	50
MUT:COL3A1:Gly807Glu	PROT:P02461	COL3A1	G	807	E	G807E	Likely pathogenic	1	1	9	50
MUT:COL3A1:Gly813Ser	PROT:P02461	COL3A1	G	813	S	G813S	Pathogenic	1	1	9	56
MUT:COL3A1:Gly813Val	PROT:P02461	COL3A1	G	813	V	G813V	Likely pathogenic	1	1	9	56
MUT:COL3A1:Gly819Asp	PROT:P02461	COL3A1	G	819	D	G819D	Pathogenic/Likely pathogenic	1	1	9	62
MUT:COL3A1:Gly822Ser	PROT:P02461	COL3A1	G	822	S	G822S	Likely pathogenic	1	1	9	65
MUT:COL3A1:Gly828Glu	PROT:P02461	COL3A1	G	828	E	G828E	Likely pathogenic	1	1	9	71
MUT:COL3A1:Gly828Trp	PROT:P02461	COL3A1	G	828	W	G828W	Pathogenic	1	1	9	71
MUT:COL3A1:Gly834Ala	PROT:P02461	COL3A1	G	834	A	G834A	Likely pathogenic	1	1	9	77
MUT:COL3A1:Gly834Arg	PROT:P02461	COL3A1	G	834	R	G834R	Likely pathogenic	1	1	9	77
MUT:COL3A1:Gly834Asp	PROT:P02461	COL3A1	G	834	D	G834D	Pathogenic	1	1	9	77
MUT:COL3A1:Gly837Asp	PROT:P02461	COL3A1	G	837	D	G837D	Pathogenic	1	1	9	79
MUT:COL3A1:Gly843Val	PROT:P02461	COL3A1	G	843	V	G843V	Likely pathogenic	1	1	9	73
MUT:COL3A1:Gly849Ala	PROT:P02461	COL3A1	G	849	A	G849A	Likely pathogenic	1	1	9	67
MUT:COL3A1:Gly852Asp	PROT:P02461	COL3A1	G	852	D	G852D	Likely pathogenic	1	1	9	64
MUT:COL3A1:Gly852Cys	PROT:P02461	COL3A1	G	852	C	G852C	Pathogenic	1	1	9	64
MUT:COL3A1:Gly855Asp	PROT:P02461	COL3A1	G	855	D	G855D	Pathogenic	1	1	9	61
MUT:COL3A1:Gly855Cys	PROT:P02461	COL3A1	G	855	C	G855C	Pathogenic/Likely pathogenic	1	1	9	61
MUT:COL3A1:Gly858Val	PROT:P02461	COL3A1	G	858	V	G858V	Pathogenic	1	1	9	58
MUT:COL3A1:Gly861Ser	PROT:P02461	COL3A1	G	861	S	G861S	Likely pathogenic	1	1	9	55
MUT:COL3A1:Gly864Val	PROT:P02461	COL3A1	G	864	V	G864V	Likely pathogenic	1	1	9	52
MUT:COL3A1:Gly867Asp	PROT:P02461	COL3A1	G	867	D	G867D	Pathogenic	1	1	9	49
MUT:COL3A1:Gly870Ala	PROT:P02461	COL3A1	G	870	A	G870A	Likely pathogenic	1	1	9	46
MUT:COL3A1:Gly873Ala	PROT:P02461	COL3A1	G	873	A	G873A	Likely pathogenic	1	1	9	43
MUT:COL3A1:Gly876Ala	PROT:P02461	COL3A1	G	876	A	G876A	Likely pathogenic	1	1	9	40
MUT:COL3A1:Gly876Arg	PROT:P02461	COL3A1	G	876	R	G876R	Likely pathogenic	1	1	9	40
MUT:COL3A1:Gly879Val	PROT:P02461	COL3A1	G	879	V	G879V	Pathogenic	1	1	9	37
MUT:COL3A1:Gly882Asp	PROT:P02461	COL3A1	G	882	D	G882D	Pathogenic	1	1	9	34
MUT:COL3A1:Gly888Asp	PROT:P02461	COL3A1	G	888	D	G888D	Likely pathogenic	1	1	9	28
MUT:COL3A1:Gly891Arg	PROT:P02461	COL3A1	G	891	R	G891R	Pathogenic/Likely pathogenic	1	1	9	25
MUT:COL3A1:Gly891Glu	PROT:P02461	COL3A1	G	891	E	G891E	Pathogenic	1	1	9	25
MUT:COL3A1:Gly894Ala	PROT:P02461	COL3A1	G	894	A	G894A	Likely pathogenic	1	1	9	22
MUT:COL3A1:Gly894Cys	PROT:P02461	COL3A1	G	894	C	G894C	Likely pathogenic	1	1	9	22
MUT:COL3A1:Gly897Asp	PROT:P02461	COL3A1	G	897	D	G897D	Pathogenic	1	1	9	19
MUT:COL3A1:Gly897Cys	PROT:P02461	COL3A1	G	897	C	G897C	Likely pathogenic	1	1	9	19
MUT:COL3A1:Gly897Ser	PROT:P02461	COL3A1	G	897	S	G897S	Pathogenic/Likely pathogenic	1	2	9	19
MUT:COL3A1:Gly897Val	PROT:P02461	COL3A1	G	897	V	G897V	Likely pathogenic	1	1	9	19
MUT:COL3A1:Gly900Asp	PROT:P02461	COL3A1	G	900	D	G900D	Likely pathogenic	1	1	9	16
MUT:COL3A1:Gly903Glu	PROT:P02461	COL3A1	G	903	E	G903E	Pathogenic	1	1	9	13
MUT:COL3A1:Gly906Arg	PROT:P02461	COL3A1	G	906	R	G906R	Likely pathogenic	1	1	9	10
MUT:COL3A1:Gly906Asp	PROT:P02461	COL3A1	G	906	D	G906D	Likely pathogenic	1	1	9	10
MUT:COL3A1:Gly909Asp	PROT:P02461	COL3A1	G	909	D	G909D	Likely pathogenic	1	1	9	7
MUT:COL3A1:Gly909Cys	PROT:P02461	COL3A1	G	909	C	G909C	Likely pathogenic	1	1	9	7
MUT:COL3A1:Gly909Val	PROT:P02461	COL3A1	G	909	V	G909V	Pathogenic	1	1	9	7
MUT:COL3A1:Gly912Asp	PROT:P02461	COL3A1	G	912	D	G912D	Pathogenic	1	1	9	4
MUT:COL3A1:Gly912Ser	PROT:P02461	COL3A1	G	912	S	G912S	Likely pathogenic	1	1	9	4
MUT:COL3A1:Gly915Ser	PROT:P02461	COL3A1	G	915	S	G915S	Likely pathogenic	1	1	9	1
MUT:COL3A1:Gly918Arg	PROT:P02461	COL3A1	G	918	R	G918R	Likely pathogenic	1	1	9	2
MUT:COL3A1:Gly918Glu	PROT:P02461	COL3A1	G	918	E	G918E	Pathogenic/Likely pathogenic	1	2	9	2
MUT:COL3A1:Gly921Glu	PROT:P02461	COL3A1	G	921	E	G921E	Likely pathogenic	1	1	9	5
MUT:COL3A1:Gly924Asp	PROT:P02461	COL3A1	G	924	D	G924D	Likely pathogenic	1	2	9	8
MUT:COL3A1:Gly924Cys	PROT:P02461	COL3A1	G	924	C	G924C	Likely pathogenic	1	2	9	8
MUT:COL3A1:Gly924Ser	PROT:P02461	COL3A1	G	924	S	G924S	Pathogenic	1	2	9	8
MUT:COL3A1:Gly924Val	PROT:P02461	COL3A1	G	924	V	G924V	Pathogenic	1	1	9	8
MUT:COL3A1:Gly927Asp	PROT:P02461	COL3A1	G	927	D	G927D	Pathogenic	1	1	9	11
MUT:COL3A1:Gly933Arg	PROT:P02461	COL3A1	G	933	R	G933R	Likely pathogenic	1	1	9	17
MUT:COL3A1:Gly936Arg	PROT:P02461	COL3A1	G	936	R	G936R	Pathogenic	1	1	9	20
MUT:COL3A1:Gly939Arg	PROT:P02461	COL3A1	G	939	R	G939R	Likely pathogenic	1	1	9	23
MUT:COL3A1:Gly939Cys	PROT:P02461	COL3A1	G	939	C	G939C	Likely pathogenic	1	2	9	23
MUT:COL3A1:Gly939Ser	PROT:P02461	COL3A1	G	939	S	G939S	Pathogenic	1	1	9	23
MUT:COL3A1:Gly942Arg	PROT:P02461	COL3A1	G	942	R	G942R	Likely pathogenic	1	1	9	26
MUT:COL3A1:Gly942Glu	PROT:P02461	COL3A1	G	942	E	G942E	Pathogenic	1	1	9	26
MUT:COL3A1:Gly945Asp	PROT:P02461	COL3A1	G	945	D	G945D	Likely pathogenic	1	1	9	29
MUT:COL3A1:Gly945Ser	PROT:P02461	COL3A1	G	945	S	G945S	Likely pathogenic	1	1	9	29
MUT:COL3A1:Gly948Arg	PROT:P02461	COL3A1	G	948	R	G948R	Likely pathogenic	1	2	9	32
MUT:COL3A1:Gly948Glu	PROT:P02461	COL3A1	G	948	E	G948E	Likely pathogenic	1	1	9	32
MUT:COL3A1:Gly954Arg	PROT:P02461	COL3A1	G	954	R	G954R	Likely pathogenic	1	1	9	38
MUT:COL3A1:Gly954Glu	PROT:P02461	COL3A1	G	954	E	G954E	Pathogenic	1	1	9	38
MUT:COL3A1:Gly957Asp	PROT:P02461	COL3A1	G	957	D	G957D	Pathogenic	1	1	9	41
MUT:COL3A1:Gly957Cys	PROT:P02461	COL3A1	G	957	C	G957C	Pathogenic	1	1	9	41
MUT:COL3A1:Gly957Ser	PROT:P02461	COL3A1	G	957	S	G957S	Pathogenic	1	1	9	41
MUT:COL3A1:Gly957Val	PROT:P02461	COL3A1	G	957	V	G957V	Pathogenic	1	1	9	41
MUT:COL3A1:Gly960Val	PROT:P02461	COL3A1	G	960	V	G960V	Pathogenic	1	1	9	44
MUT:COL3A1:Gly963Arg	PROT:P02461	COL3A1	G	963	R	G963R	Pathogenic	1	1	9	47
MUT:COL3A1:Gly963Asp	PROT:P02461	COL3A1	G	963	D	G963D	Pathogenic	1	1	9	47
MUT:COL3A1:Gly963Cys	PROT:P02461	COL3A1	G	963	C	G963C	Pathogenic	1	1	9	47
MUT:COL3A1:Gly963Ser	PROT:P02461	COL3A1	G	963	S	G963S	Likely pathogenic	1	1	9	47
MUT:COL3A1:Gly963Val	PROT:P02461	COL3A1	G	963	V	G963V	Pathogenic	1	1	9	47
MUT:COL3A1:Gly966Val	PROT:P02461	COL3A1	G	966	V	G966V	Pathogenic	1	1	9	50
MUT:COL3A1:Gly969Arg	PROT:P02461	COL3A1	G	969	R	G969R	Pathogenic	1	1	9	53
MUT:COL3A1:Gly969Glu	PROT:P02461	COL3A1	G	969	E	G969E	Likely pathogenic	1	1	9	53
MUT:COL3A1:Gly972Ala	PROT:P02461	COL3A1	G	972	A	G972A	Likely pathogenic	1	1	9	56
MUT:COL3A1:Gly972Asp	PROT:P02461	COL3A1	G	972	D	G972D	Pathogenic	1	1	9	56
MUT:COL3A1:Gly972Ser	PROT:P02461	COL3A1	G	972	S	G972S	Likely pathogenic	1	1	9	56
MUT:COL3A1:Gly975Ala	PROT:P02461	COL3A1	G	975	A	G975A	Likely pathogenic	1	1	9	59
MUT:COL3A1:Gly975Val	PROT:P02461	COL3A1	G	975	V	G975V	Pathogenic/Likely pathogenic	1	1	9	59
MUT:COL3A1:Gly978Asp	PROT:P02461	COL3A1	G	978	D	G978D	Pathogenic	1	1	9	61
MUT:COL3A1:Gly978Ser	PROT:P02461	COL3A1	G	978	S	G978S	Pathogenic	1	1	9	61
MUT:COL3A1:Gly981Arg	PROT:P02461	COL3A1	G	981	R	G981R	Pathogenic	1	1	9	58
MUT:COL3A1:Gly984Arg	PROT:P02461	COL3A1	G	984	R	G984R	Likely pathogenic	1	1	9	55
MUT:COL3A1:Gly984Thr	PROT:P02461	COL3A1	G	984	T	G984T	Pathogenic	1	1	9	55
MUT:COL3A1:Gly987Cys	PROT:P02461	COL3A1	G	987	C	G987C	Likely pathogenic	1	1	9	52
MUT:COL3A1:Gly987Ser	PROT:P02461	COL3A1	G	987	S	G987S	Pathogenic	1	2	9	52
MUT:COL3A1:Gly993Asp	PROT:P02461	COL3A1	G	993	D	G993D	Pathogenic	1	1	9	46
MUT:COL3A1:Gly993Cys	PROT:P02461	COL3A1	G	993	C	G993C	Pathogenic	1	1	9	46
MUT:COL3A1:Gly996Arg	PROT:P02461	COL3A1	G	996	R	G996R	Pathogenic/Likely pathogenic	1	2	9	43
MUT:COL3A1:Gly996Glu	PROT:P02461	COL3A1	G	996	E	G996E	Pathogenic	1	1	9	43
MUT:COL3A1:Gly999Arg	PROT:P02461	COL3A1	G	999	R	G999R	Pathogenic	1	1	9	40
MUT:COL3A1:Gly999Asp	PROT:P02461	COL3A1	G	999	D	G999D	Pathogenic	1	1	9	40
MUT:COL3A1:Gly999Ser	PROT:P02461	COL3A1	G	999	S	G999S	Pathogenic	1	1	9	40
MUT:COL3A1:His1353Gln	PROT:P02461	COL3A1	H	1353	Q	H1353Q	Benign	0	4	9	25
MUT:COL3A1:Ile1205Val	PROT:P02461	COL3A1	I	1205	V	I1205V	Benign	0	3	9	15
MUT:COL3A1:Leu1021Ile	PROT:P02461	COL3A1	L	1021	I	L1021I	Benign/Likely benign	0	3	9	18
MUT:COL3A1:Leu427Gln	PROT:P02461	COL3A1	L	427	Q	L427Q	Likely benign	0	1	9	284
MUT:COL3A1:Lys674Asn	PROT:P02461	COL3A1	K	674	N	K674N	Pathogenic	1	1	9	83
MUT:COL3A1:Lys707Asn	PROT:P02461	COL3A1	K	707	N	K707N	Likely pathogenic	1	1	9	50
MUT:COL3A1:Lys779Asn	PROT:P02461	COL3A1	K	779	N	K779N	Pathogenic	1	1	9	22
MUT:COL3A1:Phe1456Leu	PROT:P02461	COL3A1	F	1456	L	F1456L	Likely pathogenic	1	1	9	69
MUT:COL3A1:Pro1165Leu	PROT:P02461	COL3A1	P	1165	L	P1165L	Likely pathogenic	1	1	9	55
MUT:COL3A1:Pro49Ala	PROT:P02461	COL3A1	P	49	A	P49A	Likely pathogenic	1	3	9	94
MUT:COL3A1:Pro517Leu	PROT:P02461	COL3A1	P	517	L	P517L	Benign/Likely benign	0	2	9	240
MUT:COL3A1:Pro602Thr	PROT:P02461	COL3A1	P	602	T	P602T	Benign/Likely benign	0	3	9	155
MUT:COL3A1:Pro668Ser	PROT:P02461	COL3A1	P	668	S	P668S	Benign/Likely benign	0	2	9	89
MUT:COL3A1:Pro686Ala	PROT:P02461	COL3A1	P	686	A	P686A	Benign/Likely benign	0	2	9	71
MUT:COL3A1:Ser1067Cys	PROT:P02461	COL3A1	S	1067	C	S1067C	Likely benign	0	1	9	28
MUT:COL3A1:Thr1411Ala	PROT:P02461	COL3A1	T	1411	A	T1411A	Likely benign	0	1	9	24
MUT:COL3A1:Val44Ile	PROT:P02461	COL3A1	V	44	I	V44I	Likely benign	0	2	9	99
MUT:COL4A1:Ala1553Val	PROT:P02462	COL4A1	A	1553	V	A1553V	Benign/Likely benign	0	3	6	225
MUT:COL4A1:Ala558Val	PROT:P02462	COL4A1	A	558	V	A558V	Benign/Likely benign	0	3	6	98
MUT:COL4A1:Asn1627Lys	PROT:P02462	COL4A1	N	1627	K	N1627K	Pathogenic	1	1	6	299
MUT:COL4A1:Asp928His	PROT:P02462	COL4A1	D	928	H	D928H	Likely pathogenic	1	1	6	36
MUT:COL4A1:Gln1334His	PROT:P02462	COL4A1	Q	1334	H	Q1334H	Benign	0	2	6	6
MUT:COL4A1:Gln462Arg	PROT:P02462	COL4A1	Q	462	R	Q462R	Benign	0	2	6	114
MUT:COL4A1:Gln985His	PROT:P02462	COL4A1	Q	985	H	Q985H	Benign/Likely benign	0	3	6	92
MUT:COL4A1:Glu1134Gly	PROT:P02462	COL4A1	E	1134	G	E1134G	Likely benign	0	1	6	57
MUT:COL4A1:Glu1615Lys	PROT:P02462	COL4A1	E	1615	K	E1615K	Pathogenic	1	2	6	287
MUT:COL4A1:Gly1011Glu	PROT:P02462	COL4A1	G	1011	E	G1011E	Likely pathogenic	1	1	6	66
MUT:COL4A1:Gly1023Ala	PROT:P02462	COL4A1	G	1023	A	G1023A	Likely pathogenic	1	1	6	54
MUT:COL4A1:Gly1023Arg	PROT:P02462	COL4A1	G	1023	R	G1023R	Pathogenic	1	1	6	54
MUT:COL4A1:Gly1035Val	PROT:P02462	COL4A1	G	1035	V	G1035V	Pathogenic	1	1	6	42
MUT:COL4A1:Gly1038Ser	PROT:P02462	COL4A1	G	1038	S	G1038S	Pathogenic	1	1	6	39
MUT:COL4A1:Gly1047Arg	PROT:P02462	COL4A1	G	1047	R	G1047R	Pathogenic	1	1	6	30
MUT:COL4A1:Gly1070Arg	PROT:P02462	COL4A1	G	1070	R	G1070R	Pathogenic/Likely pathogenic	1	1	6	7
MUT:COL4A1:Gly1073Asp	PROT:P02462	COL4A1	G	1073	D	G1073D	Likely pathogenic	1	1	6	4
MUT:COL4A1:Gly1082Val	PROT:P02462	COL4A1	G	1082	V	G1082V	Pathogenic	1	1	6	5
MUT:COL4A1:Gly1085Arg	PROT:P02462	COL4A1	G	1085	R	G1085R	Likely pathogenic	1	1	6	8
MUT:COL4A1:Gly1100Trp	PROT:P02462	COL4A1	G	1100	W	G1100W	Likely pathogenic	1	1	6	23
MUT:COL4A1:Gly1103Arg	PROT:P02462	COL4A1	G	1103	R	G1103R	Pathogenic/Likely pathogenic	1	2	6	26
MUT:COL4A1:Gly1103Glu	PROT:P02462	COL4A1	G	1103	E	G1103E	Likely pathogenic	1	1	6	26
MUT:COL4A1:Gly1103Trp	PROT:P02462	COL4A1	G	1103	W	G1103W	Likely pathogenic	1	1	6	26
MUT:COL4A1:Gly1130Asp	PROT:P02462	COL4A1	G	1130	D	G1130D	Pathogenic	1	1	6	53
MUT:COL4A1:Gly1133Arg	PROT:P02462	COL4A1	G	1133	R	G1133R	Likely pathogenic	1	1	6	56
MUT:COL4A1:Gly1169Val	PROT:P02462	COL4A1	G	1169	V	G1169V	Likely pathogenic	1	1	6	62
MUT:COL4A1:Gly1186Ser	PROT:P02462	COL4A1	G	1186	S	G1186S	Likely pathogenic	1	2	6	45
MUT:COL4A1:Gly1198Arg	PROT:P02462	COL4A1	G	1198	R	G1198R	Pathogenic/Likely pathogenic	1	1	6	33
MUT:COL4A1:Gly1213Cys	PROT:P02462	COL4A1	G	1213	C	G1213C	Likely pathogenic	1	1	6	18
MUT:COL4A1:Gly1225Glu	PROT:P02462	COL4A1	G	1225	E	G1225E	Likely pathogenic	1	1	6	6
MUT:COL4A1:Gly1225Val	PROT:P02462	COL4A1	G	1225	V	G1225V	Likely pathogenic	1	1	6	6
MUT:COL4A1:Gly1236Arg	PROT:P02462	COL4A1	G	1236	R	G1236R	Likely pathogenic	1	1	6	5
MUT:COL4A1:Gly1239Arg	PROT:P02462	COL4A1	G	1239	R	G1239R	Pathogenic	1	1	6	8
MUT:COL4A1:Gly1248Glu	PROT:P02462	COL4A1	G	1248	E	G1248E	Likely pathogenic	1	1	6	17
MUT:COL4A1:Gly1254Glu	PROT:P02462	COL4A1	G	1254	E	G1254E	Pathogenic	1	1	6	23
MUT:COL4A1:Gly1257Glu	PROT:P02462	COL4A1	G	1257	E	G1257E	Likely pathogenic	1	1	6	26
MUT:COL4A1:Gly1284Arg	PROT:P02462	COL4A1	G	1284	R	G1284R	Likely pathogenic	1	1	6	44
MUT:COL4A1:Gly1284Glu	PROT:P02462	COL4A1	G	1284	E	G1284E	Likely pathogenic	1	1	6	44
MUT:COL4A1:Gly1290Ser	PROT:P02462	COL4A1	G	1290	S	G1290S	Likely pathogenic	1	1	6	38
MUT:COL4A1:Gly1293Ser	PROT:P02462	COL4A1	G	1293	S	G1293S	Likely pathogenic	1	1	6	35
MUT:COL4A1:Gly1308Arg	PROT:P02462	COL4A1	G	1308	R	G1308R	Likely pathogenic	1	1	6	20
MUT:COL4A1:Gly130Trp	PROT:P02462	COL4A1	G	130	W	G130W	Pathogenic/Likely pathogenic	1	1	6	218
MUT:COL4A1:Gly1317Val	PROT:P02462	COL4A1	G	1317	V	G1317V	Likely pathogenic	1	1	6	11
MUT:COL4A1:Gly1320Ser	PROT:P02462	COL4A1	G	1320	S	G1320S	Likely pathogenic	1	1	6	8
MUT:COL4A1:Gly1326Arg	PROT:P02462	COL4A1	G	1326	R	G1326R	Pathogenic	1	1	6	2
MUT:COL4A1:Gly1372Arg	PROT:P02462	COL4A1	G	1372	R	G1372R	Pathogenic	1	1	6	44
MUT:COL4A1:Gly1384Asp	PROT:P02462	COL4A1	G	1384	D	G1384D	Likely pathogenic	1	1	6	56
MUT:COL4A1:Gly1393Glu	PROT:P02462	COL4A1	G	1393	E	G1393E	Likely pathogenic	1	1	6	65
MUT:COL4A1:Gly1411Glu	PROT:P02462	COL4A1	G	1411	E	G1411E	Likely pathogenic	1	1	6	83
MUT:COL4A1:Gly1423Arg	PROT:P02462	COL4A1	G	1423	R	G1423R	Pathogenic	1	1	6	95
MUT:COL4A1:Gly1580Arg	PROT:P02462	COL4A1	G	1580	R	G1580R	Pathogenic	1	1	6	252
MUT:COL4A1:Gly1602Ser	PROT:P02462	COL4A1	G	1602	S	G1602S	Likely pathogenic	1	1	6	274
MUT:COL4A1:Gly209Ser	PROT:P02462	COL4A1	G	209	S	G209S	Pathogenic	1	1	6	139
MUT:COL4A1:Gly261Ser	PROT:P02462	COL4A1	G	261	S	G261S	Likely pathogenic	1	1	6	87
MUT:COL4A1:Gly299Val	PROT:P02462	COL4A1	G	299	V	G299V	Likely pathogenic	1	1	6	49
MUT:COL4A1:Gly326Ser	PROT:P02462	COL4A1	G	326	S	G326S	Likely pathogenic	1	1	6	22
MUT:COL4A1:Gly341Ala	PROT:P02462	COL4A1	G	341	A	G341A	Likely pathogenic	1	1	6	7
MUT:COL4A1:Gly359Val	PROT:P02462	COL4A1	G	359	V	G359V	Likely pathogenic	1	1	6	11
MUT:COL4A1:Gly379Trp	PROT:P02462	COL4A1	G	379	W	G379W	Likely pathogenic	1	1	6	31
MUT:COL4A1:Gly382Asp	PROT:P02462	COL4A1	G	382	D	G382D	Likely pathogenic	1	1	6	34
MUT:COL4A1:Gly394Arg	PROT:P02462	COL4A1	G	394	R	G394R	Likely pathogenic	1	1	6	46
MUT:COL4A1:Gly397Glu	PROT:P02462	COL4A1	G	397	E	G397E	Likely pathogenic	1	1	6	49
MUT:COL4A1:Gly420Arg	PROT:P02462	COL4A1	G	420	R	G420R	Likely pathogenic	1	1	6	72
MUT:COL4A1:Gly489Ser	PROT:P02462	COL4A1	G	489	S	G489S	Likely pathogenic	1	1	6	141
MUT:COL4A1:Gly498Arg	PROT:P02462	COL4A1	G	498	R	G498R	Pathogenic	1	1	6	150
MUT:COL4A1:Gly498Val	PROT:P02462	COL4A1	G	498	V	G498V	Pathogenic	1	1	6	150
MUT:COL4A1:Gly49Asp	PROT:P02462	COL4A1	G	49	D	G49D	Likely pathogenic	1	1	6	299
MUT:COL4A1:Gly501Asp	PROT:P02462	COL4A1	G	501	D	G501D	Pathogenic/Likely pathogenic	1	1	6	153
MUT:COL4A1:Gly510Arg	PROT:P02462	COL4A1	G	510	R	G510R	Pathogenic	1	2	6	146
MUT:COL4A1:Gly519Arg	PROT:P02462	COL4A1	G	519	R	G519R	Pathogenic	1	1	6	137
MUT:COL4A1:Gly525Arg	PROT:P02462	COL4A1	G	525	R	G525R	Likely pathogenic	1	1	6	131
MUT:COL4A1:Gly525Leu	PROT:P02462	COL4A1	G	525	L	G525L	Pathogenic	1	1	6	131
MUT:COL4A1:Gly528Arg	PROT:P02462	COL4A1	G	528	R	G528R	Likely pathogenic	1	1	6	128
MUT:COL4A1:Gly528Glu	PROT:P02462	COL4A1	G	528	E	G528E	Pathogenic	1	1	6	128
MUT:COL4A1:Gly52Asp	PROT:P02462	COL4A1	G	52	D	G52D	Pathogenic	1	1	6	296
MUT:COL4A1:Gly531Arg	PROT:P02462	COL4A1	G	531	R	G531R	Likely pathogenic	1	1	6	125
MUT:COL4A1:Gly544Arg	PROT:P02462	COL4A1	G	544	R	G544R	Pathogenic/Likely pathogenic	1	1	6	112
MUT:COL4A1:Gly559Ser	PROT:P02462	COL4A1	G	559	S	G559S	Pathogenic	1	1	6	97
MUT:COL4A1:Gly562Glu	PROT:P02462	COL4A1	G	562	E	G562E	Pathogenic	1	1	6	94
MUT:COL4A1:Gly586Cys	PROT:P02462	COL4A1	G	586	C	G586C	Likely pathogenic	1	1	6	70
MUT:COL4A1:Gly58Asp	PROT:P02462	COL4A1	G	58	D	G58D	Likely pathogenic	1	1	6	290
MUT:COL4A1:Gly595Asp	PROT:P02462	COL4A1	G	595	D	G595D	Likely pathogenic	1	1	6	61
MUT:COL4A1:Gly598Ser	PROT:P02462	COL4A1	G	598	S	G598S	Likely pathogenic	1	1	6	58
MUT:COL4A1:Gly598Val	PROT:P02462	COL4A1	G	598	V	G598V	Likely pathogenic	1	1	6	58
MUT:COL4A1:Gly601Ser	PROT:P02462	COL4A1	G	601	S	G601S	Pathogenic	1	1	6	55
MUT:COL4A1:Gly612Arg	PROT:P02462	COL4A1	G	612	R	G612R	Likely pathogenic	1	1	6	44
MUT:COL4A1:Gly621Ser	PROT:P02462	COL4A1	G	621	S	G621S	Likely pathogenic	1	1	6	35
MUT:COL4A1:Gly658Asp	PROT:P02462	COL4A1	G	658	D	G658D	Likely pathogenic	1	1	6	2
MUT:COL4A1:Gly664Glu	PROT:P02462	COL4A1	G	664	E	G664E	Likely pathogenic	1	1	6	8
MUT:COL4A1:Gly670Arg	PROT:P02462	COL4A1	G	670	R	G670R	Pathogenic/Likely pathogenic	1	2	6	14
MUT:COL4A1:Gly682Cys	PROT:P02462	COL4A1	G	682	C	G682C	Likely pathogenic	1	1	6	26
MUT:COL4A1:Gly693Glu	PROT:P02462	COL4A1	G	693	E	G693E	Likely pathogenic	1	2	6	37
MUT:COL4A1:Gly696Ser	PROT:P02462	COL4A1	G	696	S	G696S	Pathogenic	1	1	6	40
MUT:COL4A1:Gly708Arg	PROT:P02462	COL4A1	G	708	R	G708R	Pathogenic	1	1	6	52
MUT:COL4A1:Gly711Glu	PROT:P02462	COL4A1	G	711	E	G711E	Likely pathogenic	1	1	6	55
MUT:COL4A1:Gly720Asp	PROT:P02462	COL4A1	G	720	D	G720D	Pathogenic	1	3	6	64
MUT:COL4A1:Gly723Arg	PROT:P02462	COL4A1	G	723	R	G723R	Likely pathogenic	1	1	6	67
MUT:COL4A1:Gly723Val	PROT:P02462	COL4A1	G	723	V	G723V	Likely pathogenic	1	2	6	67
MUT:COL4A1:Gly729Arg	PROT:P02462	COL4A1	G	729	R	G729R	Likely pathogenic	1	1	6	73
MUT:COL4A1:Gly740Arg	PROT:P02462	COL4A1	G	740	R	G740R	Likely pathogenic	1	1	6	84
MUT:COL4A1:Gly749Ser	PROT:P02462	COL4A1	G	749	S	G749S	Pathogenic	1	1	6	93
MUT:COL4A1:Gly755Arg	PROT:P02462	COL4A1	G	755	R	G755R	Pathogenic	1	2	6	99
MUT:COL4A1:Gly761Arg	PROT:P02462	COL4A1	G	761	R	G761R	Likely pathogenic	1	1	6	105
MUT:COL4A1:Gly764Ser	PROT:P02462	COL4A1	G	764	S	G764S	Likely pathogenic	1	1	6	108
MUT:COL4A1:Gly76Arg	PROT:P02462	COL4A1	G	76	R	G76R	Likely pathogenic	1	1	6	272
MUT:COL4A1:Gly773Arg	PROT:P02462	COL4A1	G	773	R	G773R	Pathogenic	1	3	6	117
MUT:COL4A1:Gly817Glu	PROT:P02462	COL4A1	G	817	E	G817E	Likely pathogenic	1	1	6	75
MUT:COL4A1:Gly829Cys	PROT:P02462	COL4A1	G	829	C	G829C	Likely pathogenic	1	1	6	63
MUT:COL4A1:Gly829Ser	PROT:P02462	COL4A1	G	829	S	G829S	Pathogenic	1	1	6	63
MUT:COL4A1:Gly829Val	PROT:P02462	COL4A1	G	829	V	G829V	Likely pathogenic	1	1	6	63
MUT:COL4A1:Gly832Arg	PROT:P02462	COL4A1	G	832	R	G832R	Pathogenic/Likely pathogenic	1	3	6	60
MUT:COL4A1:Gly843Arg	PROT:P02462	COL4A1	G	843	R	G843R	Likely pathogenic	1	1	6	49
MUT:COL4A1:Gly849Arg	PROT:P02462	COL4A1	G	849	R	G849R	Likely pathogenic	1	1	6	43
MUT:COL4A1:Gly849Glu	PROT:P02462	COL4A1	G	849	E	G849E	Likely pathogenic	1	1	6	43
MUT:COL4A1:Gly864Glu	PROT:P02462	COL4A1	G	864	E	G864E	Likely pathogenic	1	1	6	28
MUT:COL4A1:Gly870Arg	PROT:P02462	COL4A1	G	870	R	G870R	Pathogenic	1	1	6	22
MUT:COL4A1:Gly870Glu	PROT:P02462	COL4A1	G	870	E	G870E	Pathogenic	1	1	6	22
MUT:COL4A1:Gly876Arg	PROT:P02462	COL4A1	G	876	R	G876R	Pathogenic	1	1	6	16
MUT:COL4A1:Gly882Cys	PROT:P02462	COL4A1	G	882	C	G882C	Likely pathogenic	1	1	6	10
MUT:COL4A1:Gly888Arg	PROT:P02462	COL4A1	G	888	R	G888R	Pathogenic/Likely pathogenic	1	2	6	4
MUT:COL4A1:Gly900Arg	PROT:P02462	COL4A1	G	900	R	G900R	Likely pathogenic	1	1	6	8
MUT:COL4A1:Gly903Arg	PROT:P02462	COL4A1	G	903	R	G903R	Pathogenic	1	1	6	11
MUT:COL4A1:Gly903Asp	PROT:P02462	COL4A1	G	903	D	G903D	Likely pathogenic	1	1	6	11
MUT:COL4A1:Gly906Ala	PROT:P02462	COL4A1	G	906	A	G906A	Likely pathogenic	1	1	6	14
MUT:COL4A1:Gly930Ser	PROT:P02462	COL4A1	G	930	S	G930S	Pathogenic/Likely pathogenic	1	2	6	38
MUT:COL4A1:Gly948Arg	PROT:P02462	COL4A1	G	948	R	G948R	Likely pathogenic	1	1	6	56
MUT:COL4A1:Gly948Ser	PROT:P02462	COL4A1	G	948	S	G948S	Pathogenic	1	1	6	56
MUT:COL4A1:Gly957Ala	PROT:P02462	COL4A1	G	957	A	G957A	Pathogenic	1	1	6	65
MUT:COL4A1:Gly957Arg	PROT:P02462	COL4A1	G	957	R	G957R	Likely pathogenic	1	1	6	65
MUT:COL4A1:Gly963Asp	PROT:P02462	COL4A1	G	963	D	G963D	Likely pathogenic	1	1	6	71
MUT:COL4A1:Gly975Arg	PROT:P02462	COL4A1	G	975	R	G975R	Pathogenic	1	1	6	83
MUT:COL4A1:Gly987Arg	PROT:P02462	COL4A1	G	987	R	G987R	Pathogenic/Likely pathogenic	1	1	6	90
MUT:COL4A1:Gly993Ser	PROT:P02462	COL4A1	G	993	S	G993S	Likely pathogenic	1	1	6	84
MUT:COL4A1:His165Arg	PROT:P02462	COL4A1	H	165	R	H165R	Benign	0	2	6	183
MUT:COL4A1:Ile454Val	PROT:P02462	COL4A1	I	454	V	I454V	Benign/Likely benign	0	3	6	106
MUT:COL4A1:Ile472Thr	PROT:P02462	COL4A1	I	472	T	I472T	Likely benign	0	1	6	124
MUT:COL4A1:Leu1006Phe	PROT:P02462	COL4A1	L	1006	F	L1006F	Likely pathogenic	1	1	6	71
MUT:COL4A1:Met1410Thr	PROT:P02462	COL4A1	M	1410	T	M1410T	Benign/Likely benign	0	2	6	82
MUT:COL4A1:Met1Leu	PROT:P02462	COL4A1	M	1	L	M1L	Pathogenic	1	1	6	347
MUT:COL4A1:Met707Val	PROT:P02462	COL4A1	M	707	V	M707V	Likely benign	0	1	6	51
MUT:COL4A1:Pro1028Ser	PROT:P02462	COL4A1	P	1028	S	P1028S	Benign	0	2	6	49
MUT:COL4A1:Pro1037Leu	PROT:P02462	COL4A1	P	1037	L	P1037L	Likely pathogenic	1	1	6	40
MUT:COL4A1:Pro134Leu	PROT:P02462	COL4A1	P	134	L	P134L	Benign/Likely benign	0	2	6	214
MUT:COL4A1:Pro304Leu	PROT:P02462	COL4A1	P	304	L	P304L	Benign/Likely benign	0	1	6	44
MUT:COL4A1:Pro354Leu	PROT:P02462	COL4A1	P	354	L	P354L	Likely benign	0	1	6	6
MUT:COL4A1:Pro512Ser	PROT:P02462	COL4A1	P	512	S	P512S	Benign	0	2	6	144
MUT:COL4A1:Pro643Ala	PROT:P02462	COL4A1	P	643	A	P643A	Likely benign	0	1	6	13
MUT:COL4A1:Val798Leu	PROT:P02462	COL4A1	V	798	L	V798L	Likely benign	0	1	6	94
MUT:COL4A1:Val7Leu	PROT:P02462	COL4A1	V	7	L	V7L	Benign	0	2	6	341
MUT:COL4A1:Val883Ile	PROT:P02462	COL4A1	V	883	I	V883I	Benign/Likely benign	0	2	6	9
MUT:COL4A3:Ala24Gly	PROT:Q01955	COL4A3	A	24	G	A24G	Benign/Likely benign	0	2	3	1035
MUT:COL4A3:Arg1011Cys	PROT:Q01955	COL4A3	R	1011	C	R1011C	Benign/Likely benign	0	1	3	48
MUT:COL4A3:Arg1661His	PROT:Q01955	COL4A3	R	1661	H	R1661H	Pathogenic/Likely pathogenic	1	1	3	226
MUT:COL4A3:Arg408His	PROT:Q01955	COL4A3	R	408	H	R408H	Benign	0	2	3	651
MUT:COL4A3:Asn784Lys	PROT:Q01955	COL4A3	N	784	K	N784K	Likely benign	0	1	3	275
MUT:COL4A3:Asp1269Glu	PROT:Q01955	COL4A3	D	1269	E	D1269E	Benign	0	3	3	145
MUT:COL4A3:Asp1347Glu	PROT:Q01955	COL4A3	D	1347	E	D1347E	Benign/Likely benign	0	2	3	67
MUT:COL4A3:Asp292Glu	PROT:Q01955	COL4A3	D	292	E	D292E	Likely benign	0	1	3	767
MUT:COL4A3:Asp326Tyr	PROT:Q01955	COL4A3	D	326	Y	D326Y	Benign	0	2	3	733
MUT:COL4A3:Cys1616Tyr	PROT:Q01955	COL4A3	C	1616	Y	C1616Y	Pathogenic/Likely pathogenic	1	1	3	181
MUT:COL4A3:Gln1495Arg	PROT:Q01955	COL4A3	Q	1495	R	Q1495R	Benign/Likely benign	0	2	3	60
MUT:COL4A3:Glu162Gly	PROT:Q01955	COL4A3	E	162	G	E162G	Benign	0	3	3	897
MUT:COL4A3:Glu269Lys	PROT:Q01955	COL4A3	E	269	K	E269K	Benign	0	1	3	790
MUT:COL4A3:Gly1003Arg	PROT:Q01955	COL4A3	G	1003	R	G1003R	Likely pathogenic	1	1	3	56
MUT:COL4A3:Gly1009Arg	PROT:Q01955	COL4A3	G	1009	R	G1009R	Likely pathogenic	1	1	3	50
MUT:COL4A3:Gly1012Val	PROT:Q01955	COL4A3	G	1012	V	G1012V	Likely pathogenic	1	1	3	47
MUT:COL4A3:Gly1015Glu	PROT:Q01955	COL4A3	G	1015	E	G1015E	Pathogenic/Likely pathogenic	1	2	3	44
MUT:COL4A3:Gly1018Val	PROT:Q01955	COL4A3	G	1018	V	G1018V	Likely pathogenic	1	1	3	41
MUT:COL4A3:Gly1027Ala	PROT:Q01955	COL4A3	G	1027	A	G1027A	Likely pathogenic	1	1	3	32
MUT:COL4A3:Gly1030Glu	PROT:Q01955	COL4A3	G	1030	E	G1030E	Likely pathogenic	1	1	3	29
MUT:COL4A3:Gly1054Arg	PROT:Q01955	COL4A3	G	1054	R	G1054R	Likely pathogenic	1	1	3	5
MUT:COL4A3:Gly1068Arg	PROT:Q01955	COL4A3	G	1068	R	G1068R	Likely pathogenic	1	1	3	9
MUT:COL4A3:Gly106Val	PROT:Q01955	COL4A3	G	106	V	G106V	Likely pathogenic	1	1	3	953
MUT:COL4A3:Gly1071Ala	PROT:Q01955	COL4A3	G	1071	A	G1071A	Likely pathogenic	1	1	3	12
MUT:COL4A3:Gly1077Ala	PROT:Q01955	COL4A3	G	1077	A	G1077A	Likely pathogenic	1	1	3	18
MUT:COL4A3:Gly1077Asp	PROT:Q01955	COL4A3	G	1077	D	G1077D	Pathogenic	1	1	3	18
MUT:COL4A3:Gly1080Ala	PROT:Q01955	COL4A3	G	1080	A	G1080A	Likely pathogenic	1	1	3	21
MUT:COL4A3:Gly1080Arg	PROT:Q01955	COL4A3	G	1080	R	G1080R	Pathogenic/Likely pathogenic	1	1	3	21
MUT:COL4A3:Gly1080Glu	PROT:Q01955	COL4A3	G	1080	E	G1080E	Likely pathogenic	1	1	3	21
MUT:COL4A3:Gly1083Glu	PROT:Q01955	COL4A3	G	1083	E	G1083E	Likely pathogenic	1	1	3	24
MUT:COL4A3:Gly1086Glu	PROT:Q01955	COL4A3	G	1086	E	G1086E	Likely pathogenic	1	2	3	27
MUT:COL4A3:Gly1089Asp	PROT:Q01955	COL4A3	G	1089	D	G1089D	Pathogenic	1	1	3	30
MUT:COL4A3:Gly1092Arg	PROT:Q01955	COL4A3	G	1092	R	G1092R	Likely pathogenic	1	1	3	33
MUT:COL4A3:Gly1092Glu	PROT:Q01955	COL4A3	G	1092	E	G1092E	Likely pathogenic	1	1	3	33
MUT:COL4A3:Gly1092Val	PROT:Q01955	COL4A3	G	1092	V	G1092V	Likely pathogenic	1	1	3	33
MUT:COL4A3:Gly1095Arg	PROT:Q01955	COL4A3	G	1095	R	G1095R	Likely pathogenic	1	1	3	36
MUT:COL4A3:Gly1095Val	PROT:Q01955	COL4A3	G	1095	V	G1095V	Likely pathogenic	1	1	3	36
MUT:COL4A3:Gly1104Ala	PROT:Q01955	COL4A3	G	1104	A	G1104A	Likely pathogenic	1	1	3	45
MUT:COL4A3:Gly1104Arg	PROT:Q01955	COL4A3	G	1104	R	G1104R	Likely pathogenic	1	2	3	45
MUT:COL4A3:Gly1113Glu	PROT:Q01955	COL4A3	G	1113	E	G1113E	Likely pathogenic	1	1	3	54
MUT:COL4A3:Gly1116Cys	PROT:Q01955	COL4A3	G	1116	C	G1116C	Likely pathogenic	1	1	3	57
MUT:COL4A3:Gly1116Ser	PROT:Q01955	COL4A3	G	1116	S	G1116S	Likely pathogenic	1	1	3	57
MUT:COL4A3:Gly1122Ser	PROT:Q01955	COL4A3	G	1122	S	G1122S	Likely pathogenic	1	1	3	63
MUT:COL4A3:Gly1125Ala	PROT:Q01955	COL4A3	G	1125	A	G1125A	Likely pathogenic	1	1	3	66
MUT:COL4A3:Gly1128Asp	PROT:Q01955	COL4A3	G	1128	D	G1128D	Likely pathogenic	1	1	3	69
MUT:COL4A3:Gly1128Val	PROT:Q01955	COL4A3	G	1128	V	G1128V	Likely pathogenic	1	1	3	69
MUT:COL4A3:Gly112Ser	PROT:Q01955	COL4A3	G	112	S	G112S	Likely pathogenic	1	1	3	947
MUT:COL4A3:Gly1134Arg	PROT:Q01955	COL4A3	G	1134	R	G1134R	Likely pathogenic	1	1	3	75
MUT:COL4A3:Gly1134Val	PROT:Q01955	COL4A3	G	1134	V	G1134V	Likely pathogenic	1	1	3	75
MUT:COL4A3:Gly1137Asp	PROT:Q01955	COL4A3	G	1137	D	G1137D	Pathogenic/Likely pathogenic	1	2	3	78
MUT:COL4A3:Gly1137Ser	PROT:Q01955	COL4A3	G	1137	S	G1137S	Likely pathogenic	1	1	3	78
MUT:COL4A3:Gly1140Arg	PROT:Q01955	COL4A3	G	1140	R	G1140R	Likely pathogenic	1	1	3	81
MUT:COL4A3:Gly1140Ser	PROT:Q01955	COL4A3	G	1140	S	G1140S	Likely pathogenic	1	1	3	81
MUT:COL4A3:Gly1143Arg	PROT:Q01955	COL4A3	G	1143	R	G1143R	Likely pathogenic	1	2	3	84
MUT:COL4A3:Gly1152Arg	PROT:Q01955	COL4A3	G	1152	R	G1152R	Pathogenic/Likely pathogenic	1	2	3	93
MUT:COL4A3:Gly1152Ser	PROT:Q01955	COL4A3	G	1152	S	G1152S	Likely pathogenic	1	2	3	93
MUT:COL4A3:Gly115Ala	PROT:Q01955	COL4A3	G	115	A	G115A	Likely pathogenic	1	2	3	944
MUT:COL4A3:Gly1164Cys	PROT:Q01955	COL4A3	G	1164	C	G1164C	Likely pathogenic	1	1	3	105
MUT:COL4A3:Gly1167Arg	PROT:Q01955	COL4A3	G	1167	R	G1167R	Pathogenic	1	4	3	108
MUT:COL4A3:Gly1167Glu	PROT:Q01955	COL4A3	G	1167	E	G1167E	Pathogenic	1	1	3	108
MUT:COL4A3:Gly1180Asp	PROT:Q01955	COL4A3	G	1180	D	G1180D	Likely pathogenic	1	1	3	121
MUT:COL4A3:Gly1186Arg	PROT:Q01955	COL4A3	G	1186	R	G1186R	Likely pathogenic	1	1	3	127
MUT:COL4A3:Gly1189Glu	PROT:Q01955	COL4A3	G	1189	E	G1189E	Pathogenic/Likely pathogenic	1	1	3	130
MUT:COL4A3:Gly1192Glu	PROT:Q01955	COL4A3	G	1192	E	G1192E	Pathogenic/Likely pathogenic	1	4	3	133
MUT:COL4A3:Gly1192Val	PROT:Q01955	COL4A3	G	1192	V	G1192V	Likely pathogenic	1	1	3	133
MUT:COL4A3:Gly1195Arg	PROT:Q01955	COL4A3	G	1195	R	G1195R	Likely pathogenic	1	1	3	136
MUT:COL4A3:Gly1198Arg	PROT:Q01955	COL4A3	G	1198	R	G1198R	Likely pathogenic	1	1	3	139
MUT:COL4A3:Gly1198Asp	PROT:Q01955	COL4A3	G	1198	D	G1198D	Pathogenic/Likely pathogenic	1	2	3	139
MUT:COL4A3:Gly1198Ser	PROT:Q01955	COL4A3	G	1198	S	G1198S	Pathogenic/Likely pathogenic	1	2	3	139
MUT:COL4A3:Gly1207Glu	PROT:Q01955	COL4A3	G	1207	E	G1207E	Pathogenic	1	2	3	148
MUT:COL4A3:Gly1207Trp	PROT:Q01955	COL4A3	G	1207	W	G1207W	Likely pathogenic	1	1	3	148
MUT:COL4A3:Gly1213Glu	PROT:Q01955	COL4A3	G	1213	E	G1213E	Likely pathogenic	1	1	3	154
MUT:COL4A3:Gly1219Ala	PROT:Q01955	COL4A3	G	1219	A	G1219A	Likely pathogenic	1	1	3	160
MUT:COL4A3:Gly1219Cys	PROT:Q01955	COL4A3	G	1219	C	G1219C	Pathogenic	1	1	3	160
MUT:COL4A3:Gly1228Arg	PROT:Q01955	COL4A3	G	1228	R	G1228R	Likely pathogenic	1	1	3	169
MUT:COL4A3:Gly1228Asp	PROT:Q01955	COL4A3	G	1228	D	G1228D	Pathogenic/Likely pathogenic	1	1	3	169
MUT:COL4A3:Gly1228Ser	PROT:Q01955	COL4A3	G	1228	S	G1228S	Likely pathogenic	1	1	3	169
MUT:COL4A3:Gly1248Arg	PROT:Q01955	COL4A3	G	1248	R	G1248R	Likely pathogenic	1	1	3	166
MUT:COL4A3:Gly124Arg	PROT:Q01955	COL4A3	G	124	R	G124R	Likely pathogenic	1	1	3	935
MUT:COL4A3:Gly124Glu	PROT:Q01955	COL4A3	G	124	E	G124E	Likely pathogenic	1	1	3	935
MUT:COL4A3:Gly1251Ser	PROT:Q01955	COL4A3	G	1251	S	G1251S	Pathogenic	1	1	3	163
MUT:COL4A3:Gly1254Arg	PROT:Q01955	COL4A3	G	1254	R	G1254R	Likely pathogenic	1	2	3	160
MUT:COL4A3:Gly1257Ala	PROT:Q01955	COL4A3	G	1257	A	G1257A	Likely pathogenic	1	1	3	157
MUT:COL4A3:Gly1257Arg	PROT:Q01955	COL4A3	G	1257	R	G1257R	Likely pathogenic	1	2	3	157
MUT:COL4A3:Gly1283Glu	PROT:Q01955	COL4A3	G	1283	E	G1283E	Likely pathogenic	1	1	3	131
MUT:COL4A3:Gly1295Val	PROT:Q01955	COL4A3	G	1295	V	G1295V	Likely pathogenic	1	1	3	119
MUT:COL4A3:Gly1301Asp	PROT:Q01955	COL4A3	G	1301	D	G1301D	Likely pathogenic	1	2	3	113
MUT:COL4A3:Gly1307Asp	PROT:Q01955	COL4A3	G	1307	D	G1307D	Likely pathogenic	1	1	3	107
MUT:COL4A3:Gly1307Cys	PROT:Q01955	COL4A3	G	1307	C	G1307C	Likely pathogenic	1	1	3	107
MUT:COL4A3:Gly1307Ser	PROT:Q01955	COL4A3	G	1307	S	G1307S	Likely pathogenic	1	1	3	107
MUT:COL4A3:Gly1310Ala	PROT:Q01955	COL4A3	G	1310	A	G1310A	Likely pathogenic	1	1	3	104
MUT:COL4A3:Gly1316Val	PROT:Q01955	COL4A3	G	1316	V	G1316V	Likely pathogenic	1	1	3	98
MUT:COL4A3:Gly1322Cys	PROT:Q01955	COL4A3	G	1322	C	G1322C	Likely pathogenic	1	2	3	92
MUT:COL4A3:Gly1334Glu	PROT:Q01955	COL4A3	G	1334	E	G1334E	Pathogenic	1	4	3	80
MUT:COL4A3:Gly1337Glu	PROT:Q01955	COL4A3	G	1337	E	G1337E	Likely pathogenic	1	2	3	77
MUT:COL4A3:Gly1340Glu	PROT:Q01955	COL4A3	G	1340	E	G1340E	Likely pathogenic	1	1	3	74
MUT:COL4A3:Gly1346Ala	PROT:Q01955	COL4A3	G	1346	A	G1346A	Likely pathogenic	1	1	3	68
MUT:COL4A3:Gly1361Glu	PROT:Q01955	COL4A3	G	1361	E	G1361E	Likely pathogenic	1	1	3	53
MUT:COL4A3:Gly1370Arg	PROT:Q01955	COL4A3	G	1370	R	G1370R	Likely pathogenic	1	1	3	44
MUT:COL4A3:Gly1385Glu	PROT:Q01955	COL4A3	G	1385	E	G1385E	Likely pathogenic	1	1	3	29
MUT:COL4A3:Gly139Arg	PROT:Q01955	COL4A3	G	139	R	G139R	Pathogenic/Likely pathogenic	1	1	3	920
MUT:COL4A3:Gly1412Val	PROT:Q01955	COL4A3	G	1412	V	G1412V	Pathogenic/Likely pathogenic	1	2	3	2
MUT:COL4A3:Gly1418Arg	PROT:Q01955	COL4A3	G	1418	R	G1418R	Likely pathogenic	1	1	3	4
MUT:COL4A3:Gly1427Asp	PROT:Q01955	COL4A3	G	1427	D	G1427D	Likely pathogenic	1	2	3	8
MUT:COL4A3:Gly1427Val	PROT:Q01955	COL4A3	G	1427	V	G1427V	Likely pathogenic	1	1	3	8
MUT:COL4A3:Gly142Ser	PROT:Q01955	COL4A3	G	142	S	G142S	Likely pathogenic	1	1	3	917
MUT:COL4A3:Gly145Arg	PROT:Q01955	COL4A3	G	145	R	G145R	Likely pathogenic	1	1	3	914
MUT:COL4A3:Gly148Val	PROT:Q01955	COL4A3	G	148	V	G148V	Pathogenic/Likely pathogenic	1	4	3	911
MUT:COL4A3:Gly151Arg	PROT:Q01955	COL4A3	G	151	R	G151R	Likely pathogenic	1	1	3	908
MUT:COL4A3:Gly151Cys	PROT:Q01955	COL4A3	G	151	C	G151C	Likely pathogenic	1	1	3	908
MUT:COL4A3:Gly151Ser	PROT:Q01955	COL4A3	G	151	S	G151S	Likely pathogenic	1	1	3	908
MUT:COL4A3:Gly183Cys	PROT:Q01955	COL4A3	G	183	C	G183C	Likely pathogenic	1	2	3	876
MUT:COL4A3:Gly195Ser	PROT:Q01955	COL4A3	G	195	S	G195S	Likely pathogenic	1	2	3	864
MUT:COL4A3:Gly198Ala	PROT:Q01955	COL4A3	G	198	A	G198A	Likely pathogenic	1	1	3	861
MUT:COL4A3:Gly198Arg	PROT:Q01955	COL4A3	G	198	R	G198R	Likely pathogenic	1	1	3	861
MUT:COL4A3:Gly201Ala	PROT:Q01955	COL4A3	G	201	A	G201A	Likely pathogenic	1	1	3	858
MUT:COL4A3:Gly201Arg	PROT:Q01955	COL4A3	G	201	R	G201R	Likely pathogenic	1	1	3	858
MUT:COL4A3:Gly207Arg	PROT:Q01955	COL4A3	G	207	R	G207R	Likely pathogenic	1	1	3	852
MUT:COL4A3:Gly207Glu	PROT:Q01955	COL4A3	G	207	E	G207E	Likely pathogenic	1	1	3	852
MUT:COL4A3:Gly213Ala	PROT:Q01955	COL4A3	G	213	A	G213A	Likely pathogenic	1	1	3	846
MUT:COL4A3:Gly216Val	PROT:Q01955	COL4A3	G	216	V	G216V	Likely pathogenic	1	1	3	843
MUT:COL4A3:Gly219Cys	PROT:Q01955	COL4A3	G	219	C	G219C	Likely pathogenic	1	2	3	840
MUT:COL4A3:Gly227Glu	PROT:Q01955	COL4A3	G	227	E	G227E	Likely pathogenic	1	2	3	832
MUT:COL4A3:Gly230Asp	PROT:Q01955	COL4A3	G	230	D	G230D	Pathogenic/Likely pathogenic	1	2	3	829
MUT:COL4A3:Gly230Ser	PROT:Q01955	COL4A3	G	230	S	G230S	Likely pathogenic	1	1	3	829
MUT:COL4A3:Gly230Val	PROT:Q01955	COL4A3	G	230	V	G230V	Pathogenic/Likely pathogenic	1	2	3	829
MUT:COL4A3:Gly233Arg	PROT:Q01955	COL4A3	G	233	R	G233R	Likely pathogenic	1	1	3	826
MUT:COL4A3:Gly233Val	PROT:Q01955	COL4A3	G	233	V	G233V	Likely pathogenic	1	1	3	826
MUT:COL4A3:Gly242Glu	PROT:Q01955	COL4A3	G	242	E	G242E	Pathogenic/Likely pathogenic	1	4	3	817
MUT:COL4A3:Gly262Glu	PROT:Q01955	COL4A3	G	262	E	G262E	Likely pathogenic	1	1	3	797
MUT:COL4A3:Gly265Arg	PROT:Q01955	COL4A3	G	265	R	G265R	Pathogenic/Likely pathogenic	1	2	3	794
MUT:COL4A3:Gly265Glu	PROT:Q01955	COL4A3	G	265	E	G265E	Likely pathogenic	1	1	3	794
MUT:COL4A3:Gly280Arg	PROT:Q01955	COL4A3	G	280	R	G280R	Likely pathogenic	1	1	3	779
MUT:COL4A3:Gly288Asp	PROT:Q01955	COL4A3	G	288	D	G288D	Likely pathogenic	1	1	3	771
MUT:COL4A3:Gly291Glu	PROT:Q01955	COL4A3	G	291	E	G291E	Likely pathogenic	1	3	3	768
MUT:COL4A3:Gly294Arg	PROT:Q01955	COL4A3	G	294	R	G294R	Likely pathogenic	1	1	3	765
MUT:COL4A3:Gly297Arg	PROT:Q01955	COL4A3	G	297	R	G297R	Pathogenic	1	1	3	762
MUT:COL4A3:Gly297Glu	PROT:Q01955	COL4A3	G	297	E	G297E	Likely pathogenic	1	1	3	762
MUT:COL4A3:Gly300Glu	PROT:Q01955	COL4A3	G	300	E	G300E	Likely pathogenic	1	1	3	759
MUT:COL4A3:Gly303Asp	PROT:Q01955	COL4A3	G	303	D	G303D	Likely pathogenic	1	1	3	756
MUT:COL4A3:Gly306Val	PROT:Q01955	COL4A3	G	306	V	G306V	Likely pathogenic	1	1	3	753
MUT:COL4A3:Gly315Asp	PROT:Q01955	COL4A3	G	315	D	G315D	Likely pathogenic	1	1	3	744
MUT:COL4A3:Gly318Asp	PROT:Q01955	COL4A3	G	318	D	G318D	Likely pathogenic	1	1	3	741
MUT:COL4A3:Gly321Ala	PROT:Q01955	COL4A3	G	321	A	G321A	Likely pathogenic	1	1	3	738
MUT:COL4A3:Gly321Glu	PROT:Q01955	COL4A3	G	321	E	G321E	Likely pathogenic	1	1	3	738
MUT:COL4A3:Gly327Asp	PROT:Q01955	COL4A3	G	327	D	G327D	Likely pathogenic	1	1	3	732
MUT:COL4A3:Gly330Ala	PROT:Q01955	COL4A3	G	330	A	G330A	Likely pathogenic	1	1	3	729
MUT:COL4A3:Gly333Ala	PROT:Q01955	COL4A3	G	333	A	G333A	Pathogenic	1	1	3	726
MUT:COL4A3:Gly336Cys	PROT:Q01955	COL4A3	G	336	C	G336C	Pathogenic/Likely pathogenic	1	2	3	723
MUT:COL4A3:Gly339Ala	PROT:Q01955	COL4A3	G	339	A	G339A	Likely pathogenic	1	1	3	720
MUT:COL4A3:Gly339Glu	PROT:Q01955	COL4A3	G	339	E	G339E	Likely pathogenic	1	1	3	720
MUT:COL4A3:Gly357Asp	PROT:Q01955	COL4A3	G	357	D	G357D	Likely pathogenic	1	1	3	702
MUT:COL4A3:Gly363Arg	PROT:Q01955	COL4A3	G	363	R	G363R	Likely pathogenic	1	1	3	696
MUT:COL4A3:Gly363Trp	PROT:Q01955	COL4A3	G	363	W	G363W	Likely pathogenic	1	1	3	696
MUT:COL4A3:Gly366Glu	PROT:Q01955	COL4A3	G	366	E	G366E	Pathogenic	1	1	3	693
MUT:COL4A3:Gly372Arg	PROT:Q01955	COL4A3	G	372	R	G372R	Likely pathogenic	1	1	3	687
MUT:COL4A3:Gly375Asp	PROT:Q01955	COL4A3	G	375	D	G375D	Likely pathogenic	1	1	3	684
MUT:COL4A3:Gly378Arg	PROT:Q01955	COL4A3	G	378	R	G378R	Pathogenic/Likely pathogenic	1	2	3	681
MUT:COL4A3:Gly378Glu	PROT:Q01955	COL4A3	G	378	E	G378E	Likely pathogenic	1	1	3	681
MUT:COL4A3:Gly381Arg	PROT:Q01955	COL4A3	G	381	R	G381R	Likely pathogenic	1	1	3	678
MUT:COL4A3:Gly392Glu	PROT:Q01955	COL4A3	G	392	E	G392E	Likely pathogenic	1	1	3	667
MUT:COL4A3:Gly395Arg	PROT:Q01955	COL4A3	G	395	R	G395R	Likely pathogenic	1	2	3	664
MUT:COL4A3:Gly395Glu	PROT:Q01955	COL4A3	G	395	E	G395E	Pathogenic/Likely pathogenic	1	1	3	664
MUT:COL4A3:Gly407Arg	PROT:Q01955	COL4A3	G	407	R	G407R	Pathogenic/Likely pathogenic	1	4	3	652
MUT:COL4A3:Gly410Glu	PROT:Q01955	COL4A3	G	410	E	G410E	Pathogenic/Likely pathogenic	1	1	3	649
MUT:COL4A3:Gly421Ser	PROT:Q01955	COL4A3	G	421	S	G421S	Likely pathogenic	1	2	3	638
MUT:COL4A3:Gly424Val	PROT:Q01955	COL4A3	G	424	V	G424V	Likely pathogenic	1	1	3	635
MUT:COL4A3:Gly430Arg	PROT:Q01955	COL4A3	G	430	R	G430R	Likely pathogenic	1	1	3	629
MUT:COL4A3:Gly430Val	PROT:Q01955	COL4A3	G	430	V	G430V	Likely pathogenic	1	1	3	629
MUT:COL4A3:Gly439Cys	PROT:Q01955	COL4A3	G	439	C	G439C	Likely pathogenic	1	1	3	620
MUT:COL4A3:Gly439Ser	PROT:Q01955	COL4A3	G	439	S	G439S	Pathogenic/Likely pathogenic	1	4	3	620
MUT:COL4A3:Gly43Arg	PROT:Q01955	COL4A3	G	43	R	G43R	Benign	0	3	3	1016
MUT:COL4A3:Gly452Arg	PROT:Q01955	COL4A3	G	452	R	G452R	Pathogenic/Likely pathogenic	1	3	3	607
MUT:COL4A3:Gly458Val	PROT:Q01955	COL4A3	G	458	V	G458V	Likely pathogenic	1	2	3	601
MUT:COL4A3:Gly464Arg	PROT:Q01955	COL4A3	G	464	R	G464R	Likely pathogenic	1	1	3	595
MUT:COL4A3:Gly464Glu	PROT:Q01955	COL4A3	G	464	E	G464E	Likely pathogenic	1	1	3	595
MUT:COL4A3:Gly467Arg	PROT:Q01955	COL4A3	G	467	R	G467R	Pathogenic/Likely pathogenic	1	2	3	592
MUT:COL4A3:Gly487Arg	PROT:Q01955	COL4A3	G	487	R	G487R	Likely pathogenic	1	2	3	572
MUT:COL4A3:Gly487Cys	PROT:Q01955	COL4A3	G	487	C	G487C	Likely pathogenic	1	1	3	572
MUT:COL4A3:Gly490Arg	PROT:Q01955	COL4A3	G	490	R	G490R	Likely pathogenic	1	2	3	569
MUT:COL4A3:Gly490Glu	PROT:Q01955	COL4A3	G	490	E	G490E	Likely pathogenic	1	1	3	569
MUT:COL4A3:Gly493Arg	PROT:Q01955	COL4A3	G	493	R	G493R	Likely pathogenic	1	1	3	566
MUT:COL4A3:Gly499Arg	PROT:Q01955	COL4A3	G	499	R	G499R	Likely pathogenic	1	1	3	560
MUT:COL4A3:Gly514Glu	PROT:Q01955	COL4A3	G	514	E	G514E	Likely pathogenic	1	1	3	545
MUT:COL4A3:Gly520Arg	PROT:Q01955	COL4A3	G	520	R	G520R	Likely pathogenic	1	1	3	539
MUT:COL4A3:Gly520Asp	PROT:Q01955	COL4A3	G	520	D	G520D	Likely pathogenic	1	1	3	539
MUT:COL4A3:Gly526Ser	PROT:Q01955	COL4A3	G	526	S	G526S	Likely pathogenic	1	1	3	533
MUT:COL4A3:Gly532Asp	PROT:Q01955	COL4A3	G	532	D	G532D	Likely pathogenic	1	1	3	527
MUT:COL4A3:Gly532Cys	PROT:Q01955	COL4A3	G	532	C	G532C	Pathogenic/Likely pathogenic	1	4	3	527
MUT:COL4A3:Gly541Asp	PROT:Q01955	COL4A3	G	541	D	G541D	Likely pathogenic	1	1	3	518
MUT:COL4A3:Gly541Cys	PROT:Q01955	COL4A3	G	541	C	G541C	Likely pathogenic	1	1	3	518
MUT:COL4A3:Gly55Arg	PROT:Q01955	COL4A3	G	55	R	G55R	Likely pathogenic	1	1	3	1004
MUT:COL4A3:Gly55Glu	PROT:Q01955	COL4A3	G	55	E	G55E	Likely pathogenic	1	1	3	1004
MUT:COL4A3:Gly563Arg	PROT:Q01955	COL4A3	G	563	R	G563R	Pathogenic/Likely pathogenic	1	3	3	496
MUT:COL4A3:Gly563Glu	PROT:Q01955	COL4A3	G	563	E	G563E	Likely pathogenic	1	1	3	496
MUT:COL4A3:Gly566Asp	PROT:Q01955	COL4A3	G	566	D	G566D	Likely pathogenic	1	1	3	493
MUT:COL4A3:Gly572Ala	PROT:Q01955	COL4A3	G	572	A	G572A	Likely pathogenic	1	1	3	487
MUT:COL4A3:Gly572Arg	PROT:Q01955	COL4A3	G	572	R	G572R	Likely pathogenic	1	1	3	487
MUT:COL4A3:Gly575Glu	PROT:Q01955	COL4A3	G	575	E	G575E	Pathogenic/Likely pathogenic	1	2	3	484
MUT:COL4A3:Gly584Arg	PROT:Q01955	COL4A3	G	584	R	G584R	Likely pathogenic	1	1	3	475
MUT:COL4A3:Gly584Cys	PROT:Q01955	COL4A3	G	584	C	G584C	Pathogenic/Likely pathogenic	1	1	3	475
MUT:COL4A3:Gly58Arg	PROT:Q01955	COL4A3	G	58	R	G58R	Likely pathogenic	1	1	3	1001
MUT:COL4A3:Gly593Arg	PROT:Q01955	COL4A3	G	593	R	G593R	Likely pathogenic	1	1	3	466
MUT:COL4A3:Gly593Glu	PROT:Q01955	COL4A3	G	593	E	G593E	Likely pathogenic	1	1	3	466
MUT:COL4A3:Gly605Val	PROT:Q01955	COL4A3	G	605	V	G605V	Likely pathogenic	1	1	3	454
MUT:COL4A3:Gly608Arg	PROT:Q01955	COL4A3	G	608	R	G608R	Pathogenic	1	1	3	451
MUT:COL4A3:Gly614Arg	PROT:Q01955	COL4A3	G	614	R	G614R	Likely pathogenic	1	1	3	445
MUT:COL4A3:Gly614Glu	PROT:Q01955	COL4A3	G	614	E	G614E	Likely pathogenic	1	1	3	445
MUT:COL4A3:Gly619Arg	PROT:Q01955	COL4A3	G	619	R	G619R	Pathogenic/Likely pathogenic	1	3	3	440
MUT:COL4A3:Gly622Arg	PROT:Q01955	COL4A3	G	622	R	G622R	Likely pathogenic	1	1	3	437
MUT:COL4A3:Gly628Arg	PROT:Q01955	COL4A3	G	628	R	G628R	Likely pathogenic	1	1	3	431
MUT:COL4A3:Gly628Val	PROT:Q01955	COL4A3	G	628	V	G628V	Likely pathogenic	1	1	3	431
MUT:COL4A3:Gly631Val	PROT:Q01955	COL4A3	G	631	V	G631V	Pathogenic/Likely pathogenic	1	4	3	428
MUT:COL4A3:Gly634Arg	PROT:Q01955	COL4A3	G	634	R	G634R	Pathogenic/Likely pathogenic	1	1	3	425
MUT:COL4A3:Gly637Arg	PROT:Q01955	COL4A3	G	637	R	G637R	Likely pathogenic	1	3	3	422
MUT:COL4A3:Gly640Arg	PROT:Q01955	COL4A3	G	640	R	G640R	Pathogenic/Likely pathogenic	1	5	3	419
MUT:COL4A3:Gly662Arg	PROT:Q01955	COL4A3	G	662	R	G662R	Likely pathogenic	1	2	3	397
MUT:COL4A3:Gly665Ala	PROT:Q01955	COL4A3	G	665	A	G665A	Likely pathogenic	1	1	3	394
MUT:COL4A3:Gly665Asp	PROT:Q01955	COL4A3	G	665	D	G665D	Likely pathogenic	1	1	3	394
MUT:COL4A3:Gly668Arg	PROT:Q01955	COL4A3	G	668	R	G668R	Likely pathogenic	1	1	3	391
MUT:COL4A3:Gly674Asp	PROT:Q01955	COL4A3	G	674	D	G674D	Likely pathogenic	1	1	3	385
MUT:COL4A3:Gly674Ser	PROT:Q01955	COL4A3	G	674	S	G674S	Likely pathogenic	1	1	3	385
MUT:COL4A3:Gly674Val	PROT:Q01955	COL4A3	G	674	V	G674V	Likely pathogenic	1	1	3	385
MUT:COL4A3:Gly689Arg	PROT:Q01955	COL4A3	G	689	R	G689R	Likely pathogenic	1	2	3	370
MUT:COL4A3:Gly692Ser	PROT:Q01955	COL4A3	G	692	S	G692S	Likely pathogenic	1	1	3	367
MUT:COL4A3:Gly695Arg	PROT:Q01955	COL4A3	G	695	R	G695R	Pathogenic/Likely pathogenic	1	8	3	364
MUT:COL4A3:Gly709Glu	PROT:Q01955	COL4A3	G	709	E	G709E	Pathogenic/Likely pathogenic	1	1	3	350
MUT:COL4A3:Gly712Val	PROT:Q01955	COL4A3	G	712	V	G712V	Likely pathogenic	1	2	3	347
MUT:COL4A3:Gly715Ser	PROT:Q01955	COL4A3	G	715	S	G715S	Likely pathogenic	1	1	3	344
MUT:COL4A3:Gly730Glu	PROT:Q01955	COL4A3	G	730	E	G730E	Pathogenic/Likely pathogenic	1	1	3	329
MUT:COL4A3:Gly733Ala	PROT:Q01955	COL4A3	G	733	A	G733A	Likely pathogenic	1	1	3	326
MUT:COL4A3:Gly736Val	PROT:Q01955	COL4A3	G	736	V	G736V	Likely pathogenic	1	1	3	323
MUT:COL4A3:Gly739Arg	PROT:Q01955	COL4A3	G	739	R	G739R	Likely pathogenic	1	3	3	320
MUT:COL4A3:Gly73Glu	PROT:Q01955	COL4A3	G	73	E	G73E	Likely pathogenic	1	1	3	986
MUT:COL4A3:Gly756Cys	PROT:Q01955	COL4A3	G	756	C	G756C	Likely pathogenic	1	1	3	303
MUT:COL4A3:Gly759Glu	PROT:Q01955	COL4A3	G	759	E	G759E	Likely pathogenic	1	1	3	300
MUT:COL4A3:Gly762Arg	PROT:Q01955	COL4A3	G	762	R	G762R	Likely pathogenic	1	1	3	297
MUT:COL4A3:Gly765Glu	PROT:Q01955	COL4A3	G	765	E	G765E	Likely pathogenic	1	1	3	294
MUT:COL4A3:Gly768Arg	PROT:Q01955	COL4A3	G	768	R	G768R	Pathogenic/Likely pathogenic	1	1	3	291
MUT:COL4A3:Gly771Arg	PROT:Q01955	COL4A3	G	771	R	G771R	Likely pathogenic	1	1	3	288
MUT:COL4A3:Gly777Asp	PROT:Q01955	COL4A3	G	777	D	G777D	Pathogenic/Likely pathogenic	1	3	3	282
MUT:COL4A3:Gly783Arg	PROT:Q01955	COL4A3	G	783	R	G783R	Likely pathogenic	1	2	3	276
MUT:COL4A3:Gly783Glu	PROT:Q01955	COL4A3	G	783	E	G783E	Likely pathogenic	1	1	3	276
MUT:COL4A3:Gly792Arg	PROT:Q01955	COL4A3	G	792	R	G792R	Pathogenic/Likely pathogenic	1	2	3	267
MUT:COL4A3:Gly795Glu	PROT:Q01955	COL4A3	G	795	E	G795E	Likely pathogenic	1	1	3	264
MUT:COL4A3:Gly801Ala	PROT:Q01955	COL4A3	G	801	A	G801A	Likely pathogenic	1	1	3	258
MUT:COL4A3:Gly801Arg	PROT:Q01955	COL4A3	G	801	R	G801R	Pathogenic/Likely pathogenic	1	1	3	258
MUT:COL4A3:Gly801Glu	PROT:Q01955	COL4A3	G	801	E	G801E	Likely pathogenic	1	1	3	258
MUT:COL4A3:Gly818Arg	PROT:Q01955	COL4A3	G	818	R	G818R	Pathogenic/Likely pathogenic	1	5	3	241
MUT:COL4A3:Gly824Arg	PROT:Q01955	COL4A3	G	824	R	G824R	Likely pathogenic	1	1	3	235
MUT:COL4A3:Gly827Arg	PROT:Q01955	COL4A3	G	827	R	G827R	Likely pathogenic	1	2	3	232
MUT:COL4A3:Gly827Glu	PROT:Q01955	COL4A3	G	827	E	G827E	Likely pathogenic	1	1	3	232
MUT:COL4A3:Gly830Asp	PROT:Q01955	COL4A3	G	830	D	G830D	Likely pathogenic	1	1	3	229
MUT:COL4A3:Gly836Ala	PROT:Q01955	COL4A3	G	836	A	G836A	Likely pathogenic	1	1	3	223
MUT:COL4A3:Gly839Glu	PROT:Q01955	COL4A3	G	839	E	G839E	Likely pathogenic	1	1	3	220
MUT:COL4A3:Gly853Ala	PROT:Q01955	COL4A3	G	853	A	G853A	Likely pathogenic	1	1	3	206
MUT:COL4A3:Gly856Glu	PROT:Q01955	COL4A3	G	856	E	G856E	Likely pathogenic	1	1	3	203
MUT:COL4A3:Gly859Arg	PROT:Q01955	COL4A3	G	859	R	G859R	Likely pathogenic	1	1	3	200
MUT:COL4A3:Gly862Arg	PROT:Q01955	COL4A3	G	862	R	G862R	Likely pathogenic	1	1	3	197
MUT:COL4A3:Gly862Ser	PROT:Q01955	COL4A3	G	862	S	G862S	Likely pathogenic	1	1	3	197
MUT:COL4A3:Gly868Glu	PROT:Q01955	COL4A3	G	868	E	G868E	Pathogenic	1	1	3	191
MUT:COL4A3:Gly868Val	PROT:Q01955	COL4A3	G	868	V	G868V	Likely pathogenic	1	1	3	191
MUT:COL4A3:Gly871Asp	PROT:Q01955	COL4A3	G	871	D	G871D	Likely pathogenic	1	1	3	188
MUT:COL4A3:Gly874Glu	PROT:Q01955	COL4A3	G	874	E	G874E	Likely pathogenic	1	1	3	185
MUT:COL4A3:Gly883Arg	PROT:Q01955	COL4A3	G	883	R	G883R	Likely pathogenic	1	1	3	176
MUT:COL4A3:Gly889Val	PROT:Q01955	COL4A3	G	889	V	G889V	Likely pathogenic	1	2	3	170
MUT:COL4A3:Gly88Ala	PROT:Q01955	COL4A3	G	88	A	G88A	Likely pathogenic	1	1	3	971
MUT:COL4A3:Gly88Ser	PROT:Q01955	COL4A3	G	88	S	G88S	Likely pathogenic	1	1	3	971
MUT:COL4A3:Gly892Ala	PROT:Q01955	COL4A3	G	892	A	G892A	Likely pathogenic	1	1	3	167
MUT:COL4A3:Gly895Asp	PROT:Q01955	COL4A3	G	895	D	G895D	Likely pathogenic	1	2	3	164
MUT:COL4A3:Gly898Glu	PROT:Q01955	COL4A3	G	898	E	G898E	Likely pathogenic	1	1	3	161
MUT:COL4A3:Gly901Asp	PROT:Q01955	COL4A3	G	901	D	G901D	Likely pathogenic	1	1	3	158
MUT:COL4A3:Gly904Glu	PROT:Q01955	COL4A3	G	904	E	G904E	Likely pathogenic	1	1	3	155
MUT:COL4A3:Gly907Arg	PROT:Q01955	COL4A3	G	907	R	G907R	Likely pathogenic	1	2	3	152
MUT:COL4A3:Gly907Trp	PROT:Q01955	COL4A3	G	907	W	G907W	Likely pathogenic	1	1	3	152
MUT:COL4A3:Gly916Glu	PROT:Q01955	COL4A3	G	916	E	G916E	Likely pathogenic	1	1	3	143
MUT:COL4A3:Gly91Asp	PROT:Q01955	COL4A3	G	91	D	G91D	Pathogenic/Likely pathogenic	1	2	3	968
MUT:COL4A3:Gly922Arg	PROT:Q01955	COL4A3	G	922	R	G922R	Likely pathogenic	1	2	3	137
MUT:COL4A3:Gly922Glu	PROT:Q01955	COL4A3	G	922	E	G922E	Likely pathogenic	1	1	3	137
MUT:COL4A3:Gly922Val	PROT:Q01955	COL4A3	G	922	V	G922V	Likely pathogenic	1	2	3	137
MUT:COL4A3:Gly934Arg	PROT:Q01955	COL4A3	G	934	R	G934R	Pathogenic/Likely pathogenic	1	1	3	125
MUT:COL4A3:Gly94Glu	PROT:Q01955	COL4A3	G	94	E	G94E	Likely pathogenic	1	1	3	965
MUT:COL4A3:Gly955Arg	PROT:Q01955	COL4A3	G	955	R	G955R	Pathogenic/Likely pathogenic	1	2	3	104
MUT:COL4A3:Gly955Val	PROT:Q01955	COL4A3	G	955	V	G955V	Likely pathogenic	1	1	3	104
MUT:COL4A3:Gly967Asp	PROT:Q01955	COL4A3	G	967	D	G967D	Likely pathogenic	1	1	3	92
MUT:COL4A3:Gly973Ser	PROT:Q01955	COL4A3	G	973	S	G973S	Likely pathogenic	1	1	3	86
MUT:COL4A3:Gly976Arg	PROT:Q01955	COL4A3	G	976	R	G976R	Likely pathogenic	1	1	3	83
MUT:COL4A3:Gly97Arg	PROT:Q01955	COL4A3	G	97	R	G97R	Likely pathogenic	1	2	3	962
MUT:COL4A3:Gly985Glu	PROT:Q01955	COL4A3	G	985	E	G985E	Likely pathogenic	1	1	3	74
MUT:COL4A3:Gly994Asp	PROT:Q01955	COL4A3	G	994	D	G994D	Likely pathogenic	1	1	3	65
MUT:COL4A3:Gly997Glu	PROT:Q01955	COL4A3	G	997	E	G997E	Pathogenic/Likely pathogenic	1	1	3	62
MUT:COL4A3:His451Arg	PROT:Q01955	COL4A3	H	451	R	H451R	Benign/Likely benign	0	3	3	608
MUT:COL4A3:Ile1264Thr	PROT:Q01955	COL4A3	I	1264	T	I1264T	Likely benign	0	1	3	150
MUT:COL4A3:Leu1130Pro	PROT:Q01955	COL4A3	L	1130	P	L1130P	Likely benign	0	1	3	71
MUT:COL4A3:Leu141Pro	PROT:Q01955	COL4A3	L	141	P	L141P	Benign	0	3	3	918
MUT:COL4A3:Leu1598Arg	PROT:Q01955	COL4A3	L	1598	R	L1598R	Pathogenic/Likely pathogenic	1	4	3	163
MUT:COL4A3:Leu544Pro	PROT:Q01955	COL4A3	L	544	P	L544P	Likely benign	0	1	3	515
MUT:COL4A3:Lys834Arg	PROT:Q01955	COL4A3	K	834	R	K834R	Benign/Likely benign	0	2	3	225
MUT:COL4A3:Lys960Glu	PROT:Q01955	COL4A3	K	960	E	K960E	Likely pathogenic	1	1	3	99
MUT:COL4A3:Met1209Ile	PROT:Q01955	COL4A3	M	1209	I	M1209I	Benign/Likely benign	0	2	3	150
MUT:COL4A3:Met1Ile	PROT:Q01955	COL4A3	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	3	1058
MUT:COL4A3:Met1Leu	PROT:Q01955	COL4A3	M	1	L	M1L	Pathogenic/Likely pathogenic	1	2	3	1058
MUT:COL4A3:Met1Thr	PROT:Q01955	COL4A3	M	1	T	M1T	Likely pathogenic	1	1	3	1058
MUT:COL4A3:Met1Val	PROT:Q01955	COL4A3	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	3	1058
MUT:COL4A3:Pro116Thr	PROT:Q01955	COL4A3	P	116	T	P116T	Benign/Likely benign	0	3	3	943
MUT:COL4A3:Pro25Ser	PROT:Q01955	COL4A3	P	25	S	P25S	Benign/Likely benign	0	2	3	1034
MUT:COL4A3:Pro574Leu	PROT:Q01955	COL4A3	P	574	L	P574L	Benign	0	2	3	485
MUT:COL4A3:Pro797Leu	PROT:Q01955	COL4A3	P	797	L	P797L	Likely pathogenic	1	1	3	262
MUT:COL4A3:Ser1249Asn	PROT:Q01955	COL4A3	S	1249	N	S1249N	Likely benign	0	1	3	165
MUT:COL4A3:Ser126Asn	PROT:Q01955	COL4A3	S	126	N	S126N	Likely benign	0	1	3	933
MUT:COL4A3:Ser1272Phe	PROT:Q01955	COL4A3	S	1272	F	S1272F	Likely benign	0	1	3	142
MUT:COL4A3:Ser1492Cys	PROT:Q01955	COL4A3	S	1492	C	S1492C	Pathogenic	1	1	3	57
MUT:COL4A3:Thr1062Ala	PROT:Q01955	COL4A3	T	1062	A	T1062A	Likely benign	0	1	3	3
MUT:COL4A3:Val1344Ile	PROT:Q01955	COL4A3	V	1344	I	V1344I	Likely benign	0	1	3	70
MUT:COL4A3:Val313Ala	PROT:Q01955	COL4A3	V	313	A	V313A	Likely benign	0	1	3	746
MUT:COL4A3:Val92Leu	PROT:Q01955	COL4A3	V	92	L	V92L	Likely benign	0	2	3	967
MUT:COL4A4:Ala1078Thr	PROT:P53420	COL4A4	A	1078	T	A1078T	Benign/Likely benign	0	2	6	151
MUT:COL4A4:Ala1078Val	PROT:P53420	COL4A4	A	1078	V	A1078V	Benign	0	2	6	151
MUT:COL4A4:Ala1558Val	PROT:P53420	COL4A4	A	1558	V	A1558V	Likely benign	0	1	6	3
MUT:COL4A4:Ala401Val	PROT:P53420	COL4A4	A	401	V	A401V	Benign/Likely benign	0	3	6	262
MUT:COL4A4:Ala931Thr	PROT:P53420	COL4A4	A	931	T	A931T	Benign/Likely benign	0	1	6	298
MUT:COL4A4:Arg675Gly	PROT:P53420	COL4A4	R	675	G	R675G	Likely benign	0	1	6	536
MUT:COL4A4:Asp244Ala	PROT:P53420	COL4A4	D	244	A	D244A	Likely pathogenic	1	1	6	105
MUT:COL4A4:Asp656Gly	PROT:P53420	COL4A4	D	656	G	D656G	Likely pathogenic	1	1	6	517
MUT:COL4A4:Cys1641Arg	PROT:P53420	COL4A4	C	1641	R	C1641R	Likely pathogenic	1	1	6	79
MUT:COL4A4:Gln1610Arg	PROT:P53420	COL4A4	Q	1610	R	Q1610R	Likely benign	0	1	6	48
MUT:COL4A4:Glu594Gly	PROT:P53420	COL4A4	E	594	G	E594G	Benign/Likely benign	0	3	6	455
MUT:COL4A4:Glu640Gln	PROT:P53420	COL4A4	E	640	Q	E640Q	Likely benign	0	1	6	501
MUT:COL4A4:Gly1005Arg	PROT:P53420	COL4A4	G	1005	R	G1005R	Likely pathogenic	1	1	6	224
MUT:COL4A4:Gly1008Arg	PROT:P53420	COL4A4	G	1008	R	G1008R	Pathogenic/Likely pathogenic	1	4	6	221
MUT:COL4A4:Gly1008Glu	PROT:P53420	COL4A4	G	1008	E	G1008E	Likely pathogenic	1	1	6	221
MUT:COL4A4:Gly1018Arg	PROT:P53420	COL4A4	G	1018	R	G1018R	Pathogenic/Likely pathogenic	1	1	6	211
MUT:COL4A4:Gly1024Glu	PROT:P53420	COL4A4	G	1024	E	G1024E	Likely pathogenic	1	1	6	205
MUT:COL4A4:Gly1027Val	PROT:P53420	COL4A4	G	1027	V	G1027V	Likely pathogenic	1	1	6	202
MUT:COL4A4:Gly1033Asp	PROT:P53420	COL4A4	G	1033	D	G1033D	Likely pathogenic	1	1	6	196
MUT:COL4A4:Gly1039Glu	PROT:P53420	COL4A4	G	1039	E	G1039E	Likely pathogenic	1	1	6	190
MUT:COL4A4:Gly1042Ser	PROT:P53420	COL4A4	G	1042	S	G1042S	Likely pathogenic	1	1	6	187
MUT:COL4A4:Gly1048Arg	PROT:P53420	COL4A4	G	1048	R	G1048R	Likely pathogenic	1	1	6	181
MUT:COL4A4:Gly1054Arg	PROT:P53420	COL4A4	G	1054	R	G1054R	Likely pathogenic	1	1	6	175
MUT:COL4A4:Gly1054Val	PROT:P53420	COL4A4	G	1054	V	G1054V	Likely pathogenic	1	1	6	175
MUT:COL4A4:Gly1060Ala	PROT:P53420	COL4A4	G	1060	A	G1060A	Likely pathogenic	1	1	6	169
MUT:COL4A4:Gly1066Glu	PROT:P53420	COL4A4	G	1066	E	G1066E	Likely pathogenic	1	1	6	163
MUT:COL4A4:Gly1066Val	PROT:P53420	COL4A4	G	1066	V	G1066V	Likely pathogenic	1	1	6	163
MUT:COL4A4:Gly1069Arg	PROT:P53420	COL4A4	G	1069	R	G1069R	Pathogenic	1	3	6	160
MUT:COL4A4:Gly1072Arg	PROT:P53420	COL4A4	G	1072	R	G1072R	Likely pathogenic	1	1	6	157
MUT:COL4A4:Gly1088Arg	PROT:P53420	COL4A4	G	1088	R	G1088R	Likely pathogenic	1	1	6	141
MUT:COL4A4:Gly1088Cys	PROT:P53420	COL4A4	G	1088	C	G1088C	Likely pathogenic	1	1	6	141
MUT:COL4A4:Gly1088Ser	PROT:P53420	COL4A4	G	1088	S	G1088S	Likely pathogenic	1	1	6	141
MUT:COL4A4:Gly1088Val	PROT:P53420	COL4A4	G	1088	V	G1088V	Likely pathogenic	1	1	6	141
MUT:COL4A4:Gly1091Arg	PROT:P53420	COL4A4	G	1091	R	G1091R	Pathogenic/Likely pathogenic	1	1	6	138
MUT:COL4A4:Gly110Asp	PROT:P53420	COL4A4	G	110	D	G110D	Likely pathogenic	1	1	6	29
MUT:COL4A4:Gly110Ser	PROT:P53420	COL4A4	G	110	S	G110S	Likely pathogenic	1	1	6	29
MUT:COL4A4:Gly1130Val	PROT:P53420	COL4A4	G	1130	V	G1130V	Likely pathogenic	1	1	6	99
MUT:COL4A4:Gly113Cys	PROT:P53420	COL4A4	G	113	C	G113C	Likely pathogenic	1	1	6	26
MUT:COL4A4:Gly1166Glu	PROT:P53420	COL4A4	G	1166	E	G1166E	Likely pathogenic	1	2	6	63
MUT:COL4A4:Gly1169Asp	PROT:P53420	COL4A4	G	1169	D	G1169D	Likely pathogenic	1	2	6	60
MUT:COL4A4:Gly1172Val	PROT:P53420	COL4A4	G	1172	V	G1172V	Likely pathogenic	1	1	6	57
MUT:COL4A4:Gly1178Ala	PROT:P53420	COL4A4	G	1178	A	G1178A	Likely pathogenic	1	1	6	51
MUT:COL4A4:Gly1187Ala	PROT:P53420	COL4A4	G	1187	A	G1187A	Likely pathogenic	1	1	6	42
MUT:COL4A4:Gly1187Arg	PROT:P53420	COL4A4	G	1187	R	G1187R	Likely pathogenic	1	1	6	42
MUT:COL4A4:Gly1190Asp	PROT:P53420	COL4A4	G	1190	D	G1190D	Likely pathogenic	1	1	6	39
MUT:COL4A4:Gly1201Asp	PROT:P53420	COL4A4	G	1201	D	G1201D	Likely pathogenic	1	1	6	28
MUT:COL4A4:Gly1201Ser	PROT:P53420	COL4A4	G	1201	S	G1201S	Pathogenic	1	1	6	28
MUT:COL4A4:Gly1201Val	PROT:P53420	COL4A4	G	1201	V	G1201V	Likely pathogenic	1	1	6	28
MUT:COL4A4:Gly1207Arg	PROT:P53420	COL4A4	G	1207	R	G1207R	Likely pathogenic	1	1	6	22
MUT:COL4A4:Gly1210Ala	PROT:P53420	COL4A4	G	1210	A	G1210A	Likely pathogenic	1	1	6	19
MUT:COL4A4:Gly1210Val	PROT:P53420	COL4A4	G	1210	V	G1210V	Likely pathogenic	1	1	6	19
MUT:COL4A4:Gly1213Val	PROT:P53420	COL4A4	G	1213	V	G1213V	Likely pathogenic	1	1	6	16
MUT:COL4A4:Gly1216Glu	PROT:P53420	COL4A4	G	1216	E	G1216E	Likely pathogenic	1	1	6	13
MUT:COL4A4:Gly122Asp	PROT:P53420	COL4A4	G	122	D	G122D	Likely pathogenic	1	1	6	17
MUT:COL4A4:Gly1230Ala	PROT:P53420	COL4A4	G	1230	A	G1230A	Likely pathogenic	1	1	6	1
MUT:COL4A4:Gly1230Cys	PROT:P53420	COL4A4	G	1230	C	G1230C	Likely pathogenic	1	2	6	1
MUT:COL4A4:Gly1233Arg	PROT:P53420	COL4A4	G	1233	R	G1233R	Likely pathogenic	1	2	6	4
MUT:COL4A4:Gly1239Arg	PROT:P53420	COL4A4	G	1239	R	G1239R	Pathogenic	1	1	6	10
MUT:COL4A4:Gly1242Ser	PROT:P53420	COL4A4	G	1242	S	G1242S	Likely pathogenic	1	1	6	13
MUT:COL4A4:Gly1245Val	PROT:P53420	COL4A4	G	1245	V	G1245V	Likely pathogenic	1	3	6	16
MUT:COL4A4:Gly1264Arg	PROT:P53420	COL4A4	G	1264	R	G1264R	Likely pathogenic	1	1	6	35
MUT:COL4A4:Gly1264Val	PROT:P53420	COL4A4	G	1264	V	G1264V	Pathogenic/Likely pathogenic	1	2	6	35
MUT:COL4A4:Gly1276Glu	PROT:P53420	COL4A4	G	1276	E	G1276E	Likely pathogenic	1	1	6	47
MUT:COL4A4:Gly1279Val	PROT:P53420	COL4A4	G	1279	V	G1279V	Likely pathogenic	1	1	6	50
MUT:COL4A4:Gly128Glu	PROT:P53420	COL4A4	G	128	E	G128E	Likely pathogenic	1	1	6	11
MUT:COL4A4:Gly1301Val	PROT:P53420	COL4A4	G	1301	V	G1301V	Likely pathogenic	1	1	6	72
MUT:COL4A4:Gly1319Arg	PROT:P53420	COL4A4	G	1319	R	G1319R	Likely pathogenic	1	1	6	84
MUT:COL4A4:Gly1322Asp	PROT:P53420	COL4A4	G	1322	D	G1322D	Likely pathogenic	1	1	6	81
MUT:COL4A4:Gly1325Arg	PROT:P53420	COL4A4	G	1325	R	G1325R	Likely pathogenic	1	1	6	78
MUT:COL4A4:Gly1328Ala	PROT:P53420	COL4A4	G	1328	A	G1328A	Likely pathogenic	1	1	6	75
MUT:COL4A4:Gly1343Arg	PROT:P53420	COL4A4	G	1343	R	G1343R	Likely pathogenic	1	1	6	60
MUT:COL4A4:Gly134Asp	PROT:P53420	COL4A4	G	134	D	G134D	Likely pathogenic	1	1	6	5
MUT:COL4A4:Gly1364Cys	PROT:P53420	COL4A4	G	1364	C	G1364C	Likely pathogenic	1	1	6	39
MUT:COL4A4:Gly137Val	PROT:P53420	COL4A4	G	137	V	G137V	Likely pathogenic	1	1	6	2
MUT:COL4A4:Gly1398Arg	PROT:P53420	COL4A4	G	1398	R	G1398R	Likely pathogenic	1	1	6	5
MUT:COL4A4:Gly1427Arg	PROT:P53420	COL4A4	G	1427	R	G1427R	Likely pathogenic	1	1	6	24
MUT:COL4A4:Gly1433Asp	PROT:P53420	COL4A4	G	1433	D	G1433D	Likely pathogenic	1	1	6	30
MUT:COL4A4:Gly143Ser	PROT:P53420	COL4A4	G	143	S	G143S	Likely pathogenic	1	1	6	4
MUT:COL4A4:Gly143Val	PROT:P53420	COL4A4	G	143	V	G143V	Likely pathogenic	1	3	6	4
MUT:COL4A4:Gly1445Arg	PROT:P53420	COL4A4	G	1445	R	G1445R	Likely pathogenic	1	1	6	42
MUT:COL4A4:Gly1451Arg	PROT:P53420	COL4A4	G	1451	R	G1451R	Likely pathogenic	1	2	6	48
MUT:COL4A4:Gly149Glu	PROT:P53420	COL4A4	G	149	E	G149E	Pathogenic/Likely pathogenic	1	1	6	10
MUT:COL4A4:Gly149Val	PROT:P53420	COL4A4	G	149	V	G149V	Pathogenic/Likely pathogenic	1	3	6	10
MUT:COL4A4:Gly1508Ser	PROT:P53420	COL4A4	G	1508	S	G1508S	Likely pathogenic	1	3	6	37
MUT:COL4A4:Gly158Asp	PROT:P53420	COL4A4	G	158	D	G158D	Likely pathogenic	1	1	6	19
MUT:COL4A4:Gly161Val	PROT:P53420	COL4A4	G	161	V	G161V	Likely pathogenic	1	2	6	22
MUT:COL4A4:Gly164Asp	PROT:P53420	COL4A4	G	164	D	G164D	Likely pathogenic	1	1	6	25
MUT:COL4A4:Gly196Ala	PROT:P53420	COL4A4	G	196	A	G196A	Likely pathogenic	1	1	6	57
MUT:COL4A4:Gly199Val	PROT:P53420	COL4A4	G	199	V	G199V	Likely pathogenic	1	1	6	60
MUT:COL4A4:Gly202Cys	PROT:P53420	COL4A4	G	202	C	G202C	Likely pathogenic	1	1	6	63
MUT:COL4A4:Gly240Arg	PROT:P53420	COL4A4	G	240	R	G240R	Likely pathogenic	1	2	6	101
MUT:COL4A4:Gly240Glu	PROT:P53420	COL4A4	G	240	E	G240E	Likely pathogenic	1	1	6	101
MUT:COL4A4:Gly243Arg	PROT:P53420	COL4A4	G	243	R	G243R	Likely pathogenic	1	1	6	104
MUT:COL4A4:Gly252Ala	PROT:P53420	COL4A4	G	252	A	G252A	Likely pathogenic	1	1	6	113
MUT:COL4A4:Gly252Asp	PROT:P53420	COL4A4	G	252	D	G252D	Pathogenic/Likely pathogenic	1	2	6	113
MUT:COL4A4:Gly252Val	PROT:P53420	COL4A4	G	252	V	G252V	Pathogenic/Likely pathogenic	1	4	6	113
MUT:COL4A4:Gly273Asp	PROT:P53420	COL4A4	G	273	D	G273D	Likely pathogenic	1	1	6	134
MUT:COL4A4:Gly273Ser	PROT:P53420	COL4A4	G	273	S	G273S	Likely pathogenic	1	1	6	134
MUT:COL4A4:Gly285Arg	PROT:P53420	COL4A4	G	285	R	G285R	Pathogenic	1	1	6	146
MUT:COL4A4:Gly291Arg	PROT:P53420	COL4A4	G	291	R	G291R	Likely pathogenic	1	1	6	152
MUT:COL4A4:Gly305Val	PROT:P53420	COL4A4	G	305	V	G305V	Likely pathogenic	1	1	6	166
MUT:COL4A4:Gly314Asp	PROT:P53420	COL4A4	G	314	D	G314D	Pathogenic/Likely pathogenic	1	1	6	175
MUT:COL4A4:Gly314Val	PROT:P53420	COL4A4	G	314	V	G314V	Likely pathogenic	1	1	6	175
MUT:COL4A4:Gly320Arg	PROT:P53420	COL4A4	G	320	R	G320R	Likely pathogenic	1	1	6	181
MUT:COL4A4:Gly332Ala	PROT:P53420	COL4A4	G	332	A	G332A	Likely pathogenic	1	1	6	193
MUT:COL4A4:Gly332Arg	PROT:P53420	COL4A4	G	332	R	G332R	Likely pathogenic	1	1	6	193
MUT:COL4A4:Gly332Val	PROT:P53420	COL4A4	G	332	V	G332V	Likely pathogenic	1	1	6	193
MUT:COL4A4:Gly335Trp	PROT:P53420	COL4A4	G	335	W	G335W	Likely pathogenic	1	1	6	196
MUT:COL4A4:Gly341Asp	PROT:P53420	COL4A4	G	341	D	G341D	Pathogenic/Likely pathogenic	1	1	6	202
MUT:COL4A4:Gly344Arg	PROT:P53420	COL4A4	G	344	R	G344R	Likely pathogenic	1	1	6	205
MUT:COL4A4:Gly367Cys	PROT:P53420	COL4A4	G	367	C	G367C	Likely pathogenic	1	1	6	228
MUT:COL4A4:Gly367Ser	PROT:P53420	COL4A4	G	367	S	G367S	Pathogenic/Likely pathogenic	1	2	6	228
MUT:COL4A4:Gly370Arg	PROT:P53420	COL4A4	G	370	R	G370R	Likely pathogenic	1	2	6	231
MUT:COL4A4:Gly382Ala	PROT:P53420	COL4A4	G	382	A	G382A	Pathogenic/Likely pathogenic	1	1	6	243
MUT:COL4A4:Gly391Ser	PROT:P53420	COL4A4	G	391	S	G391S	Likely pathogenic	1	1	6	252
MUT:COL4A4:Gly394Val	PROT:P53420	COL4A4	G	394	V	G394V	Likely pathogenic	1	1	6	255
MUT:COL4A4:Gly414Arg	PROT:P53420	COL4A4	G	414	R	G414R	Likely pathogenic	1	1	6	275
MUT:COL4A4:Gly414Cys	PROT:P53420	COL4A4	G	414	C	G414C	Likely pathogenic	1	1	6	275
MUT:COL4A4:Gly423Ser	PROT:P53420	COL4A4	G	423	S	G423S	Likely pathogenic	1	1	6	284
MUT:COL4A4:Gly442Cys	PROT:P53420	COL4A4	G	442	C	G442C	Pathogenic	1	1	6	303
MUT:COL4A4:Gly451Asp	PROT:P53420	COL4A4	G	451	D	G451D	Pathogenic/Likely pathogenic	1	1	6	312
MUT:COL4A4:Gly451Val	PROT:P53420	COL4A4	G	451	V	G451V	Likely pathogenic	1	2	6	312
MUT:COL4A4:Gly475Ala	PROT:P53420	COL4A4	G	475	A	G475A	Likely pathogenic	1	2	6	336
MUT:COL4A4:Gly475Cys	PROT:P53420	COL4A4	G	475	C	G475C	Likely pathogenic	1	1	6	336
MUT:COL4A4:Gly475Val	PROT:P53420	COL4A4	G	475	V	G475V	Likely pathogenic	1	1	6	336
MUT:COL4A4:Gly478Glu	PROT:P53420	COL4A4	G	478	E	G478E	Pathogenic/Likely pathogenic	1	1	6	339
MUT:COL4A4:Gly481Val	PROT:P53420	COL4A4	G	481	V	G481V	Likely pathogenic	1	1	6	342
MUT:COL4A4:Gly500Val	PROT:P53420	COL4A4	G	500	V	G500V	Likely pathogenic	1	1	6	361
MUT:COL4A4:Gly506Glu	PROT:P53420	COL4A4	G	506	E	G506E	Likely pathogenic	1	1	6	367
MUT:COL4A4:Gly512Val	PROT:P53420	COL4A4	G	512	V	G512V	Likely pathogenic	1	1	6	373
MUT:COL4A4:Gly515Glu	PROT:P53420	COL4A4	G	515	E	G515E	Likely pathogenic	1	1	6	376
MUT:COL4A4:Gly521Ala	PROT:P53420	COL4A4	G	521	A	G521A	Likely pathogenic	1	1	6	382
MUT:COL4A4:Gly524Arg	PROT:P53420	COL4A4	G	524	R	G524R	Likely pathogenic	1	1	6	385
MUT:COL4A4:Gly524Glu	PROT:P53420	COL4A4	G	524	E	G524E	Likely pathogenic	1	1	6	385
MUT:COL4A4:Gly527Arg	PROT:P53420	COL4A4	G	527	R	G527R	Likely pathogenic	1	1	6	388
MUT:COL4A4:Gly527Cys	PROT:P53420	COL4A4	G	527	C	G527C	Pathogenic/Likely pathogenic	1	2	6	388
MUT:COL4A4:Gly533Asp	PROT:P53420	COL4A4	G	533	D	G533D	Pathogenic/Likely pathogenic	1	2	6	394
MUT:COL4A4:Gly539Arg	PROT:P53420	COL4A4	G	539	R	G539R	Likely pathogenic	1	1	6	400
MUT:COL4A4:Gly545Ala	PROT:P53420	COL4A4	G	545	A	G545A	Benign	0	2	6	406
MUT:COL4A4:Gly551Asp	PROT:P53420	COL4A4	G	551	D	G551D	Likely pathogenic	1	3	6	412
MUT:COL4A4:Gly572Ala	PROT:P53420	COL4A4	G	572	A	G572A	Pathogenic/Likely pathogenic	1	2	6	433
MUT:COL4A4:Gly572Ser	PROT:P53420	COL4A4	G	572	S	G572S	Likely pathogenic	1	1	6	433
MUT:COL4A4:Gly575Ala	PROT:P53420	COL4A4	G	575	A	G575A	Likely pathogenic	1	1	6	436
MUT:COL4A4:Gly575Trp	PROT:P53420	COL4A4	G	575	W	G575W	Likely pathogenic	1	1	6	436
MUT:COL4A4:Gly584Glu	PROT:P53420	COL4A4	G	584	E	G584E	Likely pathogenic	1	1	6	445
MUT:COL4A4:Gly587Cys	PROT:P53420	COL4A4	G	587	C	G587C	Likely pathogenic	1	1	6	448
MUT:COL4A4:Gly590Val	PROT:P53420	COL4A4	G	590	V	G590V	Likely pathogenic	1	1	6	451
MUT:COL4A4:Gly593Arg	PROT:P53420	COL4A4	G	593	R	G593R	Likely pathogenic	1	1	6	454
MUT:COL4A4:Gly610Ser	PROT:P53420	COL4A4	G	610	S	G610S	Likely pathogenic	1	1	6	471
MUT:COL4A4:Gly616Arg	PROT:P53420	COL4A4	G	616	R	G616R	Likely pathogenic	1	1	6	477
MUT:COL4A4:Gly619Asp	PROT:P53420	COL4A4	G	619	D	G619D	Pathogenic/Likely pathogenic	1	1	6	480
MUT:COL4A4:Gly619Cys	PROT:P53420	COL4A4	G	619	C	G619C	Pathogenic	1	1	6	480
MUT:COL4A4:Gly622Val	PROT:P53420	COL4A4	G	622	V	G622V	Likely pathogenic	1	1	6	483
MUT:COL4A4:Gly636Asp	PROT:P53420	COL4A4	G	636	D	G636D	Likely pathogenic	1	1	6	497
MUT:COL4A4:Gly639Ala	PROT:P53420	COL4A4	G	639	A	G639A	Likely pathogenic	1	1	6	500
MUT:COL4A4:Gly648Asp	PROT:P53420	COL4A4	G	648	D	G648D	Pathogenic/Likely pathogenic	1	1	6	509
MUT:COL4A4:Gly651Val	PROT:P53420	COL4A4	G	651	V	G651V	Likely pathogenic	1	2	6	512
MUT:COL4A4:Gly657Ala	PROT:P53420	COL4A4	G	657	A	G657A	Likely pathogenic	1	1	6	518
MUT:COL4A4:Gly657Asp	PROT:P53420	COL4A4	G	657	D	G657D	Likely pathogenic	1	1	6	518
MUT:COL4A4:Gly65Arg	PROT:P53420	COL4A4	G	65	R	G65R	Likely pathogenic	1	1	6	74
MUT:COL4A4:Gly65Ser	PROT:P53420	COL4A4	G	65	S	G65S	Likely pathogenic	1	4	6	74
MUT:COL4A4:Gly65Val	PROT:P53420	COL4A4	G	65	V	G65V	Likely pathogenic	1	1	6	74
MUT:COL4A4:Gly660Asp	PROT:P53420	COL4A4	G	660	D	G660D	Likely pathogenic	1	1	6	521
MUT:COL4A4:Gly660Ser	PROT:P53420	COL4A4	G	660	S	G660S	Likely pathogenic	1	1	6	521
MUT:COL4A4:Gly663Val	PROT:P53420	COL4A4	G	663	V	G663V	Likely pathogenic	1	1	6	524
MUT:COL4A4:Gly677Ser	PROT:P53420	COL4A4	G	677	S	G677S	Pathogenic/Likely pathogenic	1	1	6	538
MUT:COL4A4:Gly680Asp	PROT:P53420	COL4A4	G	680	D	G680D	Likely pathogenic	1	1	6	541
MUT:COL4A4:Gly68Val	PROT:P53420	COL4A4	G	68	V	G68V	Likely pathogenic	1	1	6	71
MUT:COL4A4:Gly692Ser	PROT:P53420	COL4A4	G	692	S	G692S	Likely pathogenic	1	1	6	537
MUT:COL4A4:Gly695Asp	PROT:P53420	COL4A4	G	695	D	G695D	Pathogenic	1	2	6	534
MUT:COL4A4:Gly695Val	PROT:P53420	COL4A4	G	695	V	G695V	Likely pathogenic	1	1	6	534
MUT:COL4A4:Gly698Arg	PROT:P53420	COL4A4	G	698	R	G698R	Pathogenic/Likely pathogenic	1	1	6	531
MUT:COL4A4:Gly719Arg	PROT:P53420	COL4A4	G	719	R	G719R	Likely pathogenic	1	1	6	510
MUT:COL4A4:Gly722Ser	PROT:P53420	COL4A4	G	722	S	G722S	Likely pathogenic	1	1	6	507
MUT:COL4A4:Gly731Asp	PROT:P53420	COL4A4	G	731	D	G731D	Likely pathogenic	1	2	6	498
MUT:COL4A4:Gly748Ala	PROT:P53420	COL4A4	G	748	A	G748A	Likely pathogenic	1	1	6	481
MUT:COL4A4:Gly754Asp	PROT:P53420	COL4A4	G	754	D	G754D	Likely pathogenic	1	1	6	475
MUT:COL4A4:Gly77Ala	PROT:P53420	COL4A4	G	77	A	G77A	Pathogenic	1	1	6	62
MUT:COL4A4:Gly792Arg	PROT:P53420	COL4A4	G	792	R	G792R	Pathogenic/Likely pathogenic	1	2	6	437
MUT:COL4A4:Gly792Glu	PROT:P53420	COL4A4	G	792	E	G792E	Likely pathogenic	1	2	6	437
MUT:COL4A4:Gly795Arg	PROT:P53420	COL4A4	G	795	R	G795R	Pathogenic	1	2	6	434
MUT:COL4A4:Gly813Arg	PROT:P53420	COL4A4	G	813	R	G813R	Likely pathogenic	1	1	6	416
MUT:COL4A4:Gly816Val	PROT:P53420	COL4A4	G	816	V	G816V	Likely pathogenic	1	1	6	413
MUT:COL4A4:Gly819Ala	PROT:P53420	COL4A4	G	819	A	G819A	Likely pathogenic	1	1	6	410
MUT:COL4A4:Gly837Ala	PROT:P53420	COL4A4	G	837	A	G837A	Pathogenic/Likely pathogenic	1	1	6	392
MUT:COL4A4:Gly846Cys	PROT:P53420	COL4A4	G	846	C	G846C	Likely pathogenic	1	1	6	383
MUT:COL4A4:Gly849Ser	PROT:P53420	COL4A4	G	849	S	G849S	Likely pathogenic	1	1	6	380
MUT:COL4A4:Gly855Arg	PROT:P53420	COL4A4	G	855	R	G855R	Likely pathogenic	1	1	6	374
MUT:COL4A4:Gly864Arg	PROT:P53420	COL4A4	G	864	R	G864R	Pathogenic/Likely pathogenic	1	3	6	365
MUT:COL4A4:Gly870Ala	PROT:P53420	COL4A4	G	870	A	G870A	Likely pathogenic	1	1	6	359
MUT:COL4A4:Gly870Arg	PROT:P53420	COL4A4	G	870	R	G870R	Likely pathogenic	1	1	6	359
MUT:COL4A4:Gly870Asp	PROT:P53420	COL4A4	G	870	D	G870D	Likely pathogenic	1	1	6	359
MUT:COL4A4:Gly870Ser	PROT:P53420	COL4A4	G	870	S	G870S	Likely pathogenic	1	2	6	359
MUT:COL4A4:Gly873Arg	PROT:P53420	COL4A4	G	873	R	G873R	Pathogenic/Likely pathogenic	1	3	6	356
MUT:COL4A4:Gly888Arg	PROT:P53420	COL4A4	G	888	R	G888R	Likely pathogenic	1	1	6	341
MUT:COL4A4:Gly888Glu	PROT:P53420	COL4A4	G	888	E	G888E	Likely pathogenic	1	1	6	341
MUT:COL4A4:Gly897Ala	PROT:P53420	COL4A4	G	897	A	G897A	Likely pathogenic	1	1	6	332
MUT:COL4A4:Gly897Glu	PROT:P53420	COL4A4	G	897	E	G897E	Pathogenic/Likely pathogenic	1	5	6	332
MUT:COL4A4:Gly900Cys	PROT:P53420	COL4A4	G	900	C	G900C	Likely pathogenic	1	1	6	329
MUT:COL4A4:Gly909Glu	PROT:P53420	COL4A4	G	909	E	G909E	Likely pathogenic	1	1	6	320
MUT:COL4A4:Gly912Arg	PROT:P53420	COL4A4	G	912	R	G912R	Pathogenic/Likely pathogenic	1	1	6	317
MUT:COL4A4:Gly912Cys	PROT:P53420	COL4A4	G	912	C	G912C	Likely pathogenic	1	1	6	317
MUT:COL4A4:Gly915Ala	PROT:P53420	COL4A4	G	915	A	G915A	Likely pathogenic	1	1	6	314
MUT:COL4A4:Gly918Arg	PROT:P53420	COL4A4	G	918	R	G918R	Pathogenic/Likely pathogenic	1	4	6	311
MUT:COL4A4:Gly924Val	PROT:P53420	COL4A4	G	924	V	G924V	Likely pathogenic	1	1	6	305
MUT:COL4A4:Gly927Val	PROT:P53420	COL4A4	G	927	V	G927V	Likely pathogenic	1	1	6	302
MUT:COL4A4:Gly939Asp	PROT:P53420	COL4A4	G	939	D	G939D	Likely pathogenic	1	1	6	290
MUT:COL4A4:Gly948Val	PROT:P53420	COL4A4	G	948	V	G948V	Likely pathogenic	1	2	6	281
MUT:COL4A4:Gly951Arg	PROT:P53420	COL4A4	G	951	R	G951R	Likely pathogenic	1	1	6	278
MUT:COL4A4:Gly957Arg	PROT:P53420	COL4A4	G	957	R	G957R	Pathogenic/Likely pathogenic	1	2	6	272
MUT:COL4A4:Gly960Arg	PROT:P53420	COL4A4	G	960	R	G960R	Pathogenic	1	4	6	269
MUT:COL4A4:Gly960Glu	PROT:P53420	COL4A4	G	960	E	G960E	Likely pathogenic	1	2	6	269
MUT:COL4A4:Gly978Ala	PROT:P53420	COL4A4	G	978	A	G978A	Likely pathogenic	1	1	6	251
MUT:COL4A4:Gly98Asp	PROT:P53420	COL4A4	G	98	D	G98D	Likely pathogenic	1	1	6	41
MUT:COL4A4:Gly98Ser	PROT:P53420	COL4A4	G	98	S	G98S	Likely pathogenic	1	1	6	41
MUT:COL4A4:His165Leu	PROT:P53420	COL4A4	H	165	L	H165L	Likely benign	0	1	6	26
MUT:COL4A4:Ile6Thr	PROT:P53420	COL4A4	I	6	T	I6T	Benign/Likely benign	0	1	6	133
MUT:COL4A4:Ile967Val	PROT:P53420	COL4A4	I	967	V	I967V	Benign	0	3	6	262
MUT:COL4A4:Lys17Arg	PROT:P53420	COL4A4	K	17	R	K17R	Benign/Likely benign	0	1	6	122
MUT:COL4A4:Lys325Asn	PROT:P53420	COL4A4	K	325	N	K325N	Likely pathogenic	1	1	6	186
MUT:COL4A4:Met1399Leu	PROT:P53420	COL4A4	M	1399	L	M1399L	Benign/Likely benign	0	1	6	4
MUT:COL4A4:Met1552Ile	PROT:P53420	COL4A4	M	1552	I	M1552I	Benign	0	2	6	3
MUT:COL4A4:Met1603Thr	PROT:P53420	COL4A4	M	1603	T	M1603T	Likely pathogenic	1	2	6	41
MUT:COL4A4:Phe1650Leu	PROT:P53420	COL4A4	F	1650	L	F1650L	Likely pathogenic	1	1	6	88
MUT:COL4A4:Pro1004Leu	PROT:P53420	COL4A4	P	1004	L	P1004L	Benign	0	2	6	225
MUT:COL4A4:Pro1291Ala	PROT:P53420	COL4A4	P	1291	A	P1291A	Benign/Likely benign	0	1	6	62
MUT:COL4A4:Pro1341Thr	PROT:P53420	COL4A4	P	1341	T	P1341T	Likely benign	0	1	6	62
MUT:COL4A4:Pro222Leu	PROT:P53420	COL4A4	P	222	L	P222L	Likely benign	0	1	6	83
MUT:COL4A4:Pro482Ser	PROT:P53420	COL4A4	P	482	S	P482S	Benign	0	2	6	343
MUT:COL4A4:Pro759Leu	PROT:P53420	COL4A4	P	759	L	P759L	Benign	0	2	6	470
MUT:COL4A4:Ser1403Pro	PROT:P53420	COL4A4	S	1403	P	S1403P	Benign/Likely benign	0	2	6	0
MUT:COL4A4:Val1327Met	PROT:P53420	COL4A4	V	1327	M	V1327M	Benign/Likely benign	0	3	6	76
MUT:COL4A4:Val670Ile	PROT:P53420	COL4A4	V	670	I	V670I	Benign/Likely benign	0	2	6	531
MUT:COL4A5:Ala1656Glu	PROT:P29400	COL4A5	A	1656	E	A1656E	Likely pathogenic	1	1	4	321
MUT:COL4A5:Ala28Ser	PROT:P29400	COL4A5	A	28	S	A28S	Pathogenic	1	1	4	624
MUT:COL4A5:Ala430Asp	PROT:P29400	COL4A5	A	430	D	A430D	Benign/Likely benign	0	1	4	222
MUT:COL4A5:Ala886Gly	PROT:P29400	COL4A5	A	886	G	A886G	Likely benign	0	1	4	112
MUT:COL4A5:Arg1416His	PROT:P29400	COL4A5	R	1416	H	R1416H	Benign/Likely benign	0	1	4	81
MUT:COL4A5:Arg1569Gln	PROT:P29400	COL4A5	R	1569	Q	R1569Q	Pathogenic/Likely pathogenic	1	3	4	234
MUT:COL4A5:Arg1569Pro	PROT:P29400	COL4A5	R	1569	P	R1569P	Likely pathogenic	1	1	4	234
MUT:COL4A5:Arg1683Gln	PROT:P29400	COL4A5	R	1683	Q	R1683Q	Pathogenic/Likely pathogenic	1	3	4	348
MUT:COL4A5:Arg673Gly	PROT:P29400	COL4A5	R	673	G	R673G	Benign/Likely benign	0	2	4	9
MUT:COL4A5:Arg777Cys	PROT:P29400	COL4A5	R	777	C	R777C	Likely benign	0	1	4	3
MUT:COL4A5:Asn1010Ser	PROT:P29400	COL4A5	N	1010	S	N1010S	Benign	0	2	4	236
MUT:COL4A5:Asp1064Asn	PROT:P29400	COL4A5	D	1064	N	D1064N	Likely benign	0	1	4	271
MUT:COL4A5:Asp327Glu	PROT:P29400	COL4A5	D	327	E	D327E	Likely benign	0	1	4	325
MUT:COL4A5:Asp654Tyr	PROT:P29400	COL4A5	D	654	Y	D654Y	Likely pathogenic	1	1	4	2
MUT:COL4A5:Cys1482Gly	PROT:P29400	COL4A5	C	1482	G	C1482G	Likely pathogenic	1	1	4	147
MUT:COL4A5:Cys1527Trp	PROT:P29400	COL4A5	C	1527	W	C1527W	Likely pathogenic	1	1	4	192
MUT:COL4A5:Cys1527Tyr	PROT:P29400	COL4A5	C	1527	Y	C1527Y	Likely pathogenic	1	1	4	192
MUT:COL4A5:Cys1533Phe	PROT:P29400	COL4A5	C	1533	F	C1533F	Likely pathogenic	1	1	4	198
MUT:COL4A5:Cys1570Phe	PROT:P29400	COL4A5	C	1570	F	C1570F	Likely pathogenic	1	1	4	235
MUT:COL4A5:Cys1570Ser	PROT:P29400	COL4A5	C	1570	S	C1570S	Pathogenic	1	1	4	235
MUT:COL4A5:Cys1573Arg	PROT:P29400	COL4A5	C	1573	R	C1573R	Pathogenic	1	1	4	238
MUT:COL4A5:Cys1573Tyr	PROT:P29400	COL4A5	C	1573	Y	C1573Y	Likely pathogenic	1	1	4	238
MUT:COL4A5:Cys1638Arg	PROT:P29400	COL4A5	C	1638	R	C1638R	Pathogenic/Likely pathogenic	1	1	4	303
MUT:COL4A5:Cys1638Tyr	PROT:P29400	COL4A5	C	1638	Y	C1638Y	Pathogenic/Likely pathogenic	1	1	4	303
MUT:COL4A5:Cys1644Gly	PROT:P29400	COL4A5	C	1644	G	C1644G	Pathogenic	1	1	4	309
MUT:COL4A5:Cys1644Tyr	PROT:P29400	COL4A5	C	1644	Y	C1644Y	Pathogenic/Likely pathogenic	1	1	4	309
MUT:COL4A5:Cys1684Tyr	PROT:P29400	COL4A5	C	1684	Y	C1684Y	Pathogenic/Likely pathogenic	1	1	4	349
MUT:COL4A5:Gln1314His	PROT:P29400	COL4A5	Q	1314	H	Q1314H	Pathogenic	1	1	4	21
MUT:COL4A5:Gln1437Glu	PROT:P29400	COL4A5	Q	1437	E	Q1437E	Benign/Likely benign	0	2	4	102
MUT:COL4A5:Gln260Arg	PROT:P29400	COL4A5	Q	260	R	Q260R	Benign	0	2	4	392
MUT:COL4A5:Gln76His	PROT:P29400	COL4A5	Q	76	H	Q76H	Likely pathogenic	1	1	4	576
MUT:COL4A5:Glu284Val	PROT:P29400	COL4A5	E	284	V	E284V	Likely benign	0	1	4	368
MUT:COL4A5:Glu46Gly	PROT:P29400	COL4A5	E	46	G	E46G	Likely benign	0	1	4	606
MUT:COL4A5:Glu516Gln	PROT:P29400	COL4A5	E	516	Q	E516Q	Likely benign	0	1	4	136
MUT:COL4A5:Gly1000Arg	PROT:P29400	COL4A5	G	1000	R	G1000R	Pathogenic/Likely pathogenic	1	1	4	226
MUT:COL4A5:Gly1003Val	PROT:P29400	COL4A5	G	1003	V	G1003V	Likely pathogenic	1	1	4	229
MUT:COL4A5:Gly1009Asp	PROT:P29400	COL4A5	G	1009	D	G1009D	Likely pathogenic	1	1	4	235
MUT:COL4A5:Gly1012Cys	PROT:P29400	COL4A5	G	1012	C	G1012C	Likely pathogenic	1	1	4	238
MUT:COL4A5:Gly1015Arg	PROT:P29400	COL4A5	G	1015	R	G1015R	Pathogenic	1	1	4	241
MUT:COL4A5:Gly1018Asp	PROT:P29400	COL4A5	G	1018	D	G1018D	Pathogenic/Likely pathogenic	1	1	4	244
MUT:COL4A5:Gly1018Cys	PROT:P29400	COL4A5	G	1018	C	G1018C	Likely pathogenic	1	1	4	244
MUT:COL4A5:Gly1018Val	PROT:P29400	COL4A5	G	1018	V	G1018V	Likely pathogenic	1	1	4	244
MUT:COL4A5:Gly1021Arg	PROT:P29400	COL4A5	G	1021	R	G1021R	Likely pathogenic	1	1	4	247
MUT:COL4A5:Gly1024Arg	PROT:P29400	COL4A5	G	1024	R	G1024R	Likely pathogenic	1	1	4	250
MUT:COL4A5:Gly1030Ser	PROT:P29400	COL4A5	G	1030	S	G1030S	Pathogenic/Likely pathogenic	1	4	4	256
MUT:COL4A5:Gly1033Asp	PROT:P29400	COL4A5	G	1033	D	G1033D	Pathogenic	1	1	4	259
MUT:COL4A5:Gly1033Cys	PROT:P29400	COL4A5	G	1033	C	G1033C	Pathogenic	1	2	4	259
MUT:COL4A5:Gly1033Val	PROT:P29400	COL4A5	G	1033	V	G1033V	Likely pathogenic	1	1	4	259
MUT:COL4A5:Gly1036Glu	PROT:P29400	COL4A5	G	1036	E	G1036E	Pathogenic/Likely pathogenic	1	1	4	262
MUT:COL4A5:Gly1039Cys	PROT:P29400	COL4A5	G	1039	C	G1039C	Likely pathogenic	1	1	4	265
MUT:COL4A5:Gly1039Ser	PROT:P29400	COL4A5	G	1039	S	G1039S	Pathogenic/Likely pathogenic	1	1	4	265
MUT:COL4A5:Gly1045Val	PROT:P29400	COL4A5	G	1045	V	G1045V	Likely pathogenic	1	1	4	271
MUT:COL4A5:Gly1051Val	PROT:P29400	COL4A5	G	1051	V	G1051V	Likely pathogenic	1	1	4	277
MUT:COL4A5:Gly1057Glu	PROT:P29400	COL4A5	G	1057	E	G1057E	Likely pathogenic	1	1	4	278
MUT:COL4A5:Gly105Ala	PROT:P29400	COL4A5	G	105	A	G105A	Likely pathogenic	1	1	4	547
MUT:COL4A5:Gly1066Ala	PROT:P29400	COL4A5	G	1066	A	G1066A	Pathogenic	1	1	4	269
MUT:COL4A5:Gly1066Asp	PROT:P29400	COL4A5	G	1066	D	G1066D	Pathogenic	1	1	4	269
MUT:COL4A5:Gly1066Ser	PROT:P29400	COL4A5	G	1066	S	G1066S	Pathogenic	1	1	4	269
MUT:COL4A5:Gly1066Val	PROT:P29400	COL4A5	G	1066	V	G1066V	Pathogenic	1	2	4	269
MUT:COL4A5:Gly1069Val	PROT:P29400	COL4A5	G	1069	V	G1069V	Pathogenic	1	1	4	266
MUT:COL4A5:Gly1092Glu	PROT:P29400	COL4A5	G	1092	E	G1092E	Likely pathogenic	1	1	4	243
MUT:COL4A5:Gly1095Val	PROT:P29400	COL4A5	G	1095	V	G1095V	Likely pathogenic	1	1	4	240
MUT:COL4A5:Gly1098Ala	PROT:P29400	COL4A5	G	1098	A	G1098A	Likely pathogenic	1	1	4	237
MUT:COL4A5:Gly1098Asp	PROT:P29400	COL4A5	G	1098	D	G1098D	Pathogenic/Likely pathogenic	1	1	4	237
MUT:COL4A5:Gly1104Arg	PROT:P29400	COL4A5	G	1104	R	G1104R	Pathogenic	1	1	4	231
MUT:COL4A5:Gly1104Asp	PROT:P29400	COL4A5	G	1104	D	G1104D	Likely pathogenic	1	1	4	231
MUT:COL4A5:Gly1107Arg	PROT:P29400	COL4A5	G	1107	R	G1107R	Pathogenic	1	1	4	228
MUT:COL4A5:Gly1110Glu	PROT:P29400	COL4A5	G	1110	E	G1110E	Likely pathogenic	1	1	4	225
MUT:COL4A5:Gly1110Val	PROT:P29400	COL4A5	G	1110	V	G1110V	Likely pathogenic	1	1	4	225
MUT:COL4A5:Gly1116Arg	PROT:P29400	COL4A5	G	1116	R	G1116R	Pathogenic/Likely pathogenic	1	1	4	219
MUT:COL4A5:Gly1116Glu	PROT:P29400	COL4A5	G	1116	E	G1116E	Pathogenic/Likely pathogenic	1	1	4	219
MUT:COL4A5:Gly1116Val	PROT:P29400	COL4A5	G	1116	V	G1116V	Pathogenic/Likely pathogenic	1	2	4	219
MUT:COL4A5:Gly1119Asp	PROT:P29400	COL4A5	G	1119	D	G1119D	Likely pathogenic	1	1	4	216
MUT:COL4A5:Gly1122Glu	PROT:P29400	COL4A5	G	1122	E	G1122E	Likely pathogenic	1	1	4	213
MUT:COL4A5:Gly1125Arg	PROT:P29400	COL4A5	G	1125	R	G1125R	Likely pathogenic	1	2	4	210
MUT:COL4A5:Gly1134Arg	PROT:P29400	COL4A5	G	1134	R	G1134R	Likely pathogenic	1	1	4	201
MUT:COL4A5:Gly1134Cys	PROT:P29400	COL4A5	G	1134	C	G1134C	Likely pathogenic	1	1	4	201
MUT:COL4A5:Gly1137Asp	PROT:P29400	COL4A5	G	1137	D	G1137D	Pathogenic/Likely pathogenic	1	1	4	198
MUT:COL4A5:Gly1137Cys	PROT:P29400	COL4A5	G	1137	C	G1137C	Likely pathogenic	1	1	4	198
MUT:COL4A5:Gly1143Asp	PROT:P29400	COL4A5	G	1143	D	G1143D	Pathogenic	1	1	4	192
MUT:COL4A5:Gly1143Cys	PROT:P29400	COL4A5	G	1143	C	G1143C	Pathogenic/Likely pathogenic	1	3	4	192
MUT:COL4A5:Gly1143Ser	PROT:P29400	COL4A5	G	1143	S	G1143S	Pathogenic/Likely pathogenic	1	2	4	192
MUT:COL4A5:Gly1146Glu	PROT:P29400	COL4A5	G	1146	E	G1146E	Likely pathogenic	1	1	4	189
MUT:COL4A5:Gly1149Arg	PROT:P29400	COL4A5	G	1149	R	G1149R	Likely pathogenic	1	1	4	186
MUT:COL4A5:Gly1149Ser	PROT:P29400	COL4A5	G	1149	S	G1149S	Likely pathogenic	1	1	4	186
MUT:COL4A5:Gly1152Cys	PROT:P29400	COL4A5	G	1152	C	G1152C	Likely pathogenic	1	1	4	183
MUT:COL4A5:Gly1158Glu	PROT:P29400	COL4A5	G	1158	E	G1158E	Likely pathogenic	1	1	4	177
MUT:COL4A5:Gly1161Arg	PROT:P29400	COL4A5	G	1161	R	G1161R	Pathogenic	1	1	4	174
MUT:COL4A5:Gly1161Glu	PROT:P29400	COL4A5	G	1161	E	G1161E	Pathogenic	1	1	4	174
MUT:COL4A5:Gly1164Ser	PROT:P29400	COL4A5	G	1164	S	G1164S	Pathogenic	1	1	4	171
MUT:COL4A5:Gly1167Ala	PROT:P29400	COL4A5	G	1167	A	G1167A	Likely pathogenic	1	1	4	168
MUT:COL4A5:Gly1167Ser	PROT:P29400	COL4A5	G	1167	S	G1167S	Likely pathogenic	1	1	4	168
MUT:COL4A5:Gly1170Arg	PROT:P29400	COL4A5	G	1170	R	G1170R	Likely pathogenic	1	1	4	165
MUT:COL4A5:Gly1170Asp	PROT:P29400	COL4A5	G	1170	D	G1170D	Likely pathogenic	1	1	4	165
MUT:COL4A5:Gly1170Cys	PROT:P29400	COL4A5	G	1170	C	G1170C	Pathogenic/Likely pathogenic	1	1	4	165
MUT:COL4A5:Gly1182Asp	PROT:P29400	COL4A5	G	1182	D	G1182D	Likely pathogenic	1	1	4	153
MUT:COL4A5:Gly1185Arg	PROT:P29400	COL4A5	G	1185	R	G1185R	Likely pathogenic	1	1	4	150
MUT:COL4A5:Gly1185Val	PROT:P29400	COL4A5	G	1185	V	G1185V	Likely pathogenic	1	1	4	150
MUT:COL4A5:Gly1193Glu	PROT:P29400	COL4A5	G	1193	E	G1193E	Likely pathogenic	1	1	4	142
MUT:COL4A5:Gly1196Arg	PROT:P29400	COL4A5	G	1196	R	G1196R	Pathogenic/Likely pathogenic	1	1	4	139
MUT:COL4A5:Gly1199Arg	PROT:P29400	COL4A5	G	1199	R	G1199R	Pathogenic	1	1	4	136
MUT:COL4A5:Gly1202Cys	PROT:P29400	COL4A5	G	1202	C	G1202C	Pathogenic/Likely pathogenic	1	2	4	133
MUT:COL4A5:Gly1205Asp	PROT:P29400	COL4A5	G	1205	D	G1205D	Pathogenic	1	1	4	130
MUT:COL4A5:Gly1205Ser	PROT:P29400	COL4A5	G	1205	S	G1205S	Pathogenic	1	1	4	130
MUT:COL4A5:Gly1208Arg	PROT:P29400	COL4A5	G	1208	R	G1208R	Likely pathogenic	1	1	4	127
MUT:COL4A5:Gly1208Glu	PROT:P29400	COL4A5	G	1208	E	G1208E	Likely pathogenic	1	1	4	127
MUT:COL4A5:Gly120Asp	PROT:P29400	COL4A5	G	120	D	G120D	Likely pathogenic	1	1	4	532
MUT:COL4A5:Gly1211Glu	PROT:P29400	COL4A5	G	1211	E	G1211E	Likely pathogenic	1	2	4	124
MUT:COL4A5:Gly1214Arg	PROT:P29400	COL4A5	G	1214	R	G1214R	Likely pathogenic	1	1	4	121
MUT:COL4A5:Gly1217Asp	PROT:P29400	COL4A5	G	1217	D	G1217D	Pathogenic	1	1	4	118
MUT:COL4A5:Gly1220Asp	PROT:P29400	COL4A5	G	1220	D	G1220D	Pathogenic/Likely pathogenic	1	1	4	115
MUT:COL4A5:Gly1223Ser	PROT:P29400	COL4A5	G	1223	S	G1223S	Pathogenic	1	1	4	112
MUT:COL4A5:Gly1229Ala	PROT:P29400	COL4A5	G	1229	A	G1229A	Likely pathogenic	1	1	4	106
MUT:COL4A5:Gly1229Asp	PROT:P29400	COL4A5	G	1229	D	G1229D	Pathogenic/Likely pathogenic	1	1	4	106
MUT:COL4A5:Gly1229Cys	PROT:P29400	COL4A5	G	1229	C	G1229C	Likely pathogenic	1	1	4	106
MUT:COL4A5:Gly1229Ser	PROT:P29400	COL4A5	G	1229	S	G1229S	Pathogenic	1	2	4	106
MUT:COL4A5:Gly1235Cys	PROT:P29400	COL4A5	G	1235	C	G1235C	Likely pathogenic	1	1	4	100
MUT:COL4A5:Gly1235Ser	PROT:P29400	COL4A5	G	1235	S	G1235S	Likely pathogenic	1	1	4	100
MUT:COL4A5:Gly1235Val	PROT:P29400	COL4A5	G	1235	V	G1235V	Pathogenic	1	1	4	100
MUT:COL4A5:Gly123Arg	PROT:P29400	COL4A5	G	123	R	G123R	Pathogenic	1	1	4	529
MUT:COL4A5:Gly1241Ala	PROT:P29400	COL4A5	G	1241	A	G1241A	Likely pathogenic	1	1	4	94
MUT:COL4A5:Gly1241Asp	PROT:P29400	COL4A5	G	1241	D	G1241D	Pathogenic	1	1	4	94
MUT:COL4A5:Gly1241Cys	PROT:P29400	COL4A5	G	1241	C	G1241C	Pathogenic	1	1	4	94
MUT:COL4A5:Gly1244Asp	PROT:P29400	COL4A5	G	1244	D	G1244D	Pathogenic/Likely pathogenic	1	2	4	91
MUT:COL4A5:Gly1258Ser	PROT:P29400	COL4A5	G	1258	S	G1258S	Pathogenic	1	1	4	77
MUT:COL4A5:Gly1258Val	PROT:P29400	COL4A5	G	1258	V	G1258V	Likely pathogenic	1	1	4	77
MUT:COL4A5:Gly1264Val	PROT:P29400	COL4A5	G	1264	V	G1264V	Likely pathogenic	1	1	4	71
MUT:COL4A5:Gly1267Asp	PROT:P29400	COL4A5	G	1267	D	G1267D	Likely pathogenic	1	1	4	68
MUT:COL4A5:Gly1270Asp	PROT:P29400	COL4A5	G	1270	D	G1270D	Likely pathogenic	1	1	4	65
MUT:COL4A5:Gly1273Cys	PROT:P29400	COL4A5	G	1273	C	G1273C	Likely pathogenic	1	1	4	62
MUT:COL4A5:Gly1273Ser	PROT:P29400	COL4A5	G	1273	S	G1273S	Likely pathogenic	1	1	4	62
MUT:COL4A5:Gly1276Ile	PROT:P29400	COL4A5	G	1276	I	G1276I	Likely pathogenic	1	1	4	59
MUT:COL4A5:Gly1282Arg	PROT:P29400	COL4A5	G	1282	R	G1282R	Likely pathogenic	1	1	4	53
MUT:COL4A5:Gly1282Glu	PROT:P29400	COL4A5	G	1282	E	G1282E	Likely pathogenic	1	1	4	53
MUT:COL4A5:Gly129Arg	PROT:P29400	COL4A5	G	129	R	G129R	Pathogenic	1	1	4	523
MUT:COL4A5:Gly129Glu	PROT:P29400	COL4A5	G	129	E	G129E	Likely pathogenic	1	1	4	523
MUT:COL4A5:Gly1300Ser	PROT:P29400	COL4A5	G	1300	S	G1300S	Likely pathogenic	1	1	4	35
MUT:COL4A5:Gly1303Asp	PROT:P29400	COL4A5	G	1303	D	G1303D	Likely pathogenic	1	1	4	32
MUT:COL4A5:Gly1303Cys	PROT:P29400	COL4A5	G	1303	C	G1303C	Likely pathogenic	1	1	4	32
MUT:COL4A5:Gly1333Ala	PROT:P29400	COL4A5	G	1333	A	G1333A	Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly1333Arg	PROT:P29400	COL4A5	G	1333	R	G1333R	Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly1345Val	PROT:P29400	COL4A5	G	1345	V	G1345V	Likely pathogenic	1	1	4	10
MUT:COL4A5:Gly1351Val	PROT:P29400	COL4A5	G	1351	V	G1351V	Likely pathogenic	1	1	4	16
MUT:COL4A5:Gly1354Arg	PROT:P29400	COL4A5	G	1354	R	G1354R	Likely pathogenic	1	1	4	19
MUT:COL4A5:Gly1354Asp	PROT:P29400	COL4A5	G	1354	D	G1354D	Likely pathogenic	1	1	4	19
MUT:COL4A5:Gly1357Glu	PROT:P29400	COL4A5	G	1357	E	G1357E	Likely pathogenic	1	1	4	22
MUT:COL4A5:Gly135Val	PROT:P29400	COL4A5	G	135	V	G135V	Likely pathogenic	1	1	4	517
MUT:COL4A5:Gly1366Arg	PROT:P29400	COL4A5	G	1366	R	G1366R	Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly1366Glu	PROT:P29400	COL4A5	G	1366	E	G1366E	Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly1366Val	PROT:P29400	COL4A5	G	1366	V	G1366V	Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly1379Arg	PROT:P29400	COL4A5	G	1379	R	G1379R	Likely pathogenic	1	1	4	44
MUT:COL4A5:Gly1385Val	PROT:P29400	COL4A5	G	1385	V	G1385V	Likely pathogenic	1	1	4	50
MUT:COL4A5:Gly1388Asp	PROT:P29400	COL4A5	G	1388	D	G1388D	Likely pathogenic	1	1	4	53
MUT:COL4A5:Gly138Cys	PROT:P29400	COL4A5	G	138	C	G138C	Likely pathogenic	1	1	4	514
MUT:COL4A5:Gly138Ser	PROT:P29400	COL4A5	G	138	S	G138S	Pathogenic/Likely pathogenic	1	1	4	514
MUT:COL4A5:Gly1391Arg	PROT:P29400	COL4A5	G	1391	R	G1391R	Likely pathogenic	1	1	4	56
MUT:COL4A5:Gly1391Glu	PROT:P29400	COL4A5	G	1391	E	G1391E	Likely pathogenic	1	1	4	56
MUT:COL4A5:Gly1391Trp	PROT:P29400	COL4A5	G	1391	W	G1391W	Likely pathogenic	1	1	4	56
MUT:COL4A5:Gly1391Val	PROT:P29400	COL4A5	G	1391	V	G1391V	Likely pathogenic	1	1	4	56
MUT:COL4A5:Gly1394Arg	PROT:P29400	COL4A5	G	1394	R	G1394R	Likely pathogenic	1	1	4	59
MUT:COL4A5:Gly1397Val	PROT:P29400	COL4A5	G	1397	V	G1397V	Likely pathogenic	1	1	4	62
MUT:COL4A5:Gly141Asp	PROT:P29400	COL4A5	G	141	D	G141D	Likely pathogenic	1	1	4	511
MUT:COL4A5:Gly141Ser	PROT:P29400	COL4A5	G	141	S	G141S	Likely pathogenic	1	1	4	511
MUT:COL4A5:Gly1424Ser	PROT:P29400	COL4A5	G	1424	S	G1424S	Likely pathogenic	1	1	4	89
MUT:COL4A5:Gly1427Trp	PROT:P29400	COL4A5	G	1427	W	G1427W	Likely pathogenic	1	1	4	92
MUT:COL4A5:Gly1433Ser	PROT:P29400	COL4A5	G	1433	S	G1433S	Pathogenic	1	1	4	98
MUT:COL4A5:Gly1433Val	PROT:P29400	COL4A5	G	1433	V	G1433V	Likely pathogenic	1	1	4	98
MUT:COL4A5:Gly1436Arg	PROT:P29400	COL4A5	G	1436	R	G1436R	Likely pathogenic	1	1	4	101
MUT:COL4A5:Gly1439Asp	PROT:P29400	COL4A5	G	1439	D	G1439D	Pathogenic/Likely pathogenic	1	1	4	104
MUT:COL4A5:Gly1439Ser	PROT:P29400	COL4A5	G	1439	S	G1439S	Likely pathogenic	1	1	4	104
MUT:COL4A5:Gly1442Asp	PROT:P29400	COL4A5	G	1442	D	G1442D	Likely pathogenic	1	1	4	107
MUT:COL4A5:Gly1445Asp	PROT:P29400	COL4A5	G	1445	D	G1445D	Likely pathogenic	1	1	4	110
MUT:COL4A5:Gly1448Arg	PROT:P29400	COL4A5	G	1448	R	G1448R	Pathogenic	1	1	4	113
MUT:COL4A5:Gly1448Cys	PROT:P29400	COL4A5	G	1448	C	G1448C	Likely pathogenic	1	1	4	113
MUT:COL4A5:Gly1448Ser	PROT:P29400	COL4A5	G	1448	S	G1448S	Pathogenic	1	1	4	113
MUT:COL4A5:Gly1451Glu	PROT:P29400	COL4A5	G	1451	E	G1451E	Likely pathogenic	1	1	4	116
MUT:COL4A5:Gly1454Ser	PROT:P29400	COL4A5	G	1454	S	G1454S	Pathogenic/Likely pathogenic	1	1	4	119
MUT:COL4A5:Gly1457Arg	PROT:P29400	COL4A5	G	1457	R	G1457R	Likely pathogenic	1	1	4	122
MUT:COL4A5:Gly1457Asp	PROT:P29400	COL4A5	G	1457	D	G1457D	Pathogenic	1	1	4	122
MUT:COL4A5:Gly1457Cys	PROT:P29400	COL4A5	G	1457	C	G1457C	Likely pathogenic	1	1	4	122
MUT:COL4A5:Gly147Arg	PROT:P29400	COL4A5	G	147	R	G147R	Likely pathogenic	1	1	4	505
MUT:COL4A5:Gly1492Val	PROT:P29400	COL4A5	G	1492	V	G1492V	Likely pathogenic	1	1	4	157
MUT:COL4A5:Gly150Asp	PROT:P29400	COL4A5	G	150	D	G150D	Likely pathogenic	1	1	4	502
MUT:COL4A5:Gly1510Arg	PROT:P29400	COL4A5	G	1510	R	G1510R	Pathogenic	1	1	4	175
MUT:COL4A5:Gly1602Ser	PROT:P29400	COL4A5	G	1602	S	G1602S	Likely pathogenic	1	1	4	267
MUT:COL4A5:Gly171Arg	PROT:P29400	COL4A5	G	171	R	G171R	Pathogenic/Likely pathogenic	1	1	4	481
MUT:COL4A5:Gly171Asp	PROT:P29400	COL4A5	G	171	D	G171D	Likely pathogenic	1	1	4	481
MUT:COL4A5:Gly171Cys	PROT:P29400	COL4A5	G	171	C	G171C	Likely pathogenic	1	1	4	481
MUT:COL4A5:Gly177Asp	PROT:P29400	COL4A5	G	177	D	G177D	Pathogenic	1	1	4	475
MUT:COL4A5:Gly180Arg	PROT:P29400	COL4A5	G	180	R	G180R	Likely pathogenic	1	1	4	472
MUT:COL4A5:Gly180Glu	PROT:P29400	COL4A5	G	180	E	G180E	Likely pathogenic	1	1	4	472
MUT:COL4A5:Gly183Ser	PROT:P29400	COL4A5	G	183	S	G183S	Likely pathogenic	1	1	4	469
MUT:COL4A5:Gly183Val	PROT:P29400	COL4A5	G	183	V	G183V	Likely pathogenic	1	1	4	469
MUT:COL4A5:Gly186Arg	PROT:P29400	COL4A5	G	186	R	G186R	Pathogenic	1	2	4	466
MUT:COL4A5:Gly186Ser	PROT:P29400	COL4A5	G	186	S	G186S	Pathogenic/Likely pathogenic	1	1	4	466
MUT:COL4A5:Gly189Val	PROT:P29400	COL4A5	G	189	V	G189V	Pathogenic	1	1	4	463
MUT:COL4A5:Gly192Arg	PROT:P29400	COL4A5	G	192	R	G192R	Pathogenic/Likely pathogenic	1	1	4	460
MUT:COL4A5:Gly192Trp	PROT:P29400	COL4A5	G	192	W	G192W	Pathogenic	1	1	4	460
MUT:COL4A5:Gly195Asp	PROT:P29400	COL4A5	G	195	D	G195D	Pathogenic	1	1	4	457
MUT:COL4A5:Gly195Cys	PROT:P29400	COL4A5	G	195	C	G195C	Likely pathogenic	1	1	4	457
MUT:COL4A5:Gly195Val	PROT:P29400	COL4A5	G	195	V	G195V	Pathogenic/Likely pathogenic	1	1	4	457
MUT:COL4A5:Gly204Asp	PROT:P29400	COL4A5	G	204	D	G204D	Pathogenic	1	1	4	448
MUT:COL4A5:Gly204Ser	PROT:P29400	COL4A5	G	204	S	G204S	Likely pathogenic	1	1	4	448
MUT:COL4A5:Gly207Arg	PROT:P29400	COL4A5	G	207	R	G207R	Pathogenic/Likely pathogenic	1	1	4	445
MUT:COL4A5:Gly207Ser	PROT:P29400	COL4A5	G	207	S	G207S	Likely pathogenic	1	1	4	445
MUT:COL4A5:Gly207Val	PROT:P29400	COL4A5	G	207	V	G207V	Likely pathogenic	1	1	4	445
MUT:COL4A5:Gly213Arg	PROT:P29400	COL4A5	G	213	R	G213R	Likely pathogenic	1	1	4	439
MUT:COL4A5:Gly213Glu	PROT:P29400	COL4A5	G	213	E	G213E	Likely pathogenic	1	1	4	439
MUT:COL4A5:Gly213Val	PROT:P29400	COL4A5	G	213	V	G213V	Likely pathogenic	1	1	4	439
MUT:COL4A5:Gly216Glu	PROT:P29400	COL4A5	G	216	E	G216E	Pathogenic	1	1	4	436
MUT:COL4A5:Gly224Val	PROT:P29400	COL4A5	G	224	V	G224V	Likely pathogenic	1	1	4	428
MUT:COL4A5:Gly230Asp	PROT:P29400	COL4A5	G	230	D	G230D	Pathogenic	1	1	4	422
MUT:COL4A5:Gly230Val	PROT:P29400	COL4A5	G	230	V	G230V	Pathogenic/Likely pathogenic	1	2	4	422
MUT:COL4A5:Gly233Ala	PROT:P29400	COL4A5	G	233	A	G233A	Likely pathogenic	1	1	4	419
MUT:COL4A5:Gly233Asp	PROT:P29400	COL4A5	G	233	D	G233D	Likely pathogenic	1	1	4	419
MUT:COL4A5:Gly233Val	PROT:P29400	COL4A5	G	233	V	G233V	Likely pathogenic	1	1	4	419
MUT:COL4A5:Gly236Asp	PROT:P29400	COL4A5	G	236	D	G236D	Likely pathogenic	1	1	4	416
MUT:COL4A5:Gly236Ser	PROT:P29400	COL4A5	G	236	S	G236S	Likely pathogenic	1	2	4	416
MUT:COL4A5:Gly264Ser	PROT:P29400	COL4A5	G	264	S	G264S	Likely pathogenic	1	1	4	388
MUT:COL4A5:Gly267Arg	PROT:P29400	COL4A5	G	267	R	G267R	Likely pathogenic	1	1	4	385
MUT:COL4A5:Gly270Glu	PROT:P29400	COL4A5	G	270	E	G270E	Likely pathogenic	1	1	4	382
MUT:COL4A5:Gly270Val	PROT:P29400	COL4A5	G	270	V	G270V	Likely pathogenic	1	1	4	382
MUT:COL4A5:Gly273Arg	PROT:P29400	COL4A5	G	273	R	G273R	Likely pathogenic	1	1	4	379
MUT:COL4A5:Gly273Glu	PROT:P29400	COL4A5	G	273	E	G273E	Likely pathogenic	1	2	4	379
MUT:COL4A5:Gly276Ser	PROT:P29400	COL4A5	G	276	S	G276S	Likely pathogenic	1	1	4	376
MUT:COL4A5:Gly276Val	PROT:P29400	COL4A5	G	276	V	G276V	Likely pathogenic	1	1	4	376
MUT:COL4A5:Gly279Arg	PROT:P29400	COL4A5	G	279	R	G279R	Likely pathogenic	1	1	4	373
MUT:COL4A5:Gly279Cys	PROT:P29400	COL4A5	G	279	C	G279C	Likely pathogenic	1	2	4	373
MUT:COL4A5:Gly289Asp	PROT:P29400	COL4A5	G	289	D	G289D	Pathogenic/Likely pathogenic	1	1	4	363
MUT:COL4A5:Gly289Ser	PROT:P29400	COL4A5	G	289	S	G289S	Likely pathogenic	1	1	4	363
MUT:COL4A5:Gly292Arg	PROT:P29400	COL4A5	G	292	R	G292R	Pathogenic	1	1	4	360
MUT:COL4A5:Gly292Glu	PROT:P29400	COL4A5	G	292	E	G292E	Likely pathogenic	1	1	4	360
MUT:COL4A5:Gly295Asp	PROT:P29400	COL4A5	G	295	D	G295D	Pathogenic/Likely pathogenic	1	2	4	357
MUT:COL4A5:Gly298Cys	PROT:P29400	COL4A5	G	298	C	G298C	Likely pathogenic	1	1	4	354
MUT:COL4A5:Gly298Ser	PROT:P29400	COL4A5	G	298	S	G298S	Likely pathogenic	1	1	4	354
MUT:COL4A5:Gly304Glu	PROT:P29400	COL4A5	G	304	E	G304E	Likely pathogenic	1	2	4	348
MUT:COL4A5:Gly307Arg	PROT:P29400	COL4A5	G	307	R	G307R	Likely pathogenic	1	1	4	345
MUT:COL4A5:Gly307Asp	PROT:P29400	COL4A5	G	307	D	G307D	Pathogenic/Likely pathogenic	1	2	4	345
MUT:COL4A5:Gly307Ser	PROT:P29400	COL4A5	G	307	S	G307S	Pathogenic/Likely pathogenic	1	1	4	345
MUT:COL4A5:Gly310Glu	PROT:P29400	COL4A5	G	310	E	G310E	Pathogenic/Likely pathogenic	1	1	4	342
MUT:COL4A5:Gly310Val	PROT:P29400	COL4A5	G	310	V	G310V	Likely pathogenic	1	1	4	342
MUT:COL4A5:Gly313Arg	PROT:P29400	COL4A5	G	313	R	G313R	Pathogenic/Likely pathogenic	1	1	4	339
MUT:COL4A5:Gly313Cys	PROT:P29400	COL4A5	G	313	C	G313C	Likely pathogenic	1	1	4	339
MUT:COL4A5:Gly319Asp	PROT:P29400	COL4A5	G	319	D	G319D	Likely pathogenic	1	1	4	333
MUT:COL4A5:Gly319Val	PROT:P29400	COL4A5	G	319	V	G319V	Likely pathogenic	1	1	4	333
MUT:COL4A5:Gly31Trp	PROT:P29400	COL4A5	G	31	W	G31W	Likely pathogenic	1	3	4	621
MUT:COL4A5:Gly322Val	PROT:P29400	COL4A5	G	322	V	G322V	Likely pathogenic	1	1	4	330
MUT:COL4A5:Gly325Arg	PROT:P29400	COL4A5	G	325	R	G325R	Pathogenic	1	1	4	327
MUT:COL4A5:Gly325Glu	PROT:P29400	COL4A5	G	325	E	G325E	Pathogenic	1	1	4	327
MUT:COL4A5:Gly328Asp	PROT:P29400	COL4A5	G	328	D	G328D	Pathogenic/Likely pathogenic	1	1	4	324
MUT:COL4A5:Gly328Ser	PROT:P29400	COL4A5	G	328	S	G328S	Pathogenic	1	1	4	324
MUT:COL4A5:Gly331Ser	PROT:P29400	COL4A5	G	331	S	G331S	Pathogenic	1	1	4	321
MUT:COL4A5:Gly331Val	PROT:P29400	COL4A5	G	331	V	G331V	Likely pathogenic	1	1	4	321
MUT:COL4A5:Gly334Asp	PROT:P29400	COL4A5	G	334	D	G334D	Pathogenic	1	1	4	318
MUT:COL4A5:Gly334Val	PROT:P29400	COL4A5	G	334	V	G334V	Pathogenic	1	1	4	318
MUT:COL4A5:Gly337Asp	PROT:P29400	COL4A5	G	337	D	G337D	Pathogenic	1	1	4	315
MUT:COL4A5:Gly337Ser	PROT:P29400	COL4A5	G	337	S	G337S	Likely pathogenic	1	1	4	315
MUT:COL4A5:Gly337Val	PROT:P29400	COL4A5	G	337	V	G337V	Pathogenic	1	1	4	315
MUT:COL4A5:Gly343Arg	PROT:P29400	COL4A5	G	343	R	G343R	Likely pathogenic	1	1	4	309
MUT:COL4A5:Gly343Glu	PROT:P29400	COL4A5	G	343	E	G343E	Likely pathogenic	1	1	4	309
MUT:COL4A5:Gly362Trp	PROT:P29400	COL4A5	G	362	W	G362W	Likely pathogenic	1	1	4	290
MUT:COL4A5:Gly362Val	PROT:P29400	COL4A5	G	362	V	G362V	Pathogenic	1	1	4	290
MUT:COL4A5:Gly365Glu	PROT:P29400	COL4A5	G	365	E	G365E	Pathogenic/Likely pathogenic	1	1	4	287
MUT:COL4A5:Gly368Arg	PROT:P29400	COL4A5	G	368	R	G368R	Likely pathogenic	1	1	4	284
MUT:COL4A5:Gly374Arg	PROT:P29400	COL4A5	G	374	R	G374R	Pathogenic/Likely pathogenic	1	1	4	278
MUT:COL4A5:Gly377Arg	PROT:P29400	COL4A5	G	377	R	G377R	Likely pathogenic	1	1	4	275
MUT:COL4A5:Gly380Arg	PROT:P29400	COL4A5	G	380	R	G380R	Pathogenic/Likely pathogenic	1	1	4	272
MUT:COL4A5:Gly380Cys	PROT:P29400	COL4A5	G	380	C	G380C	Pathogenic	1	1	4	272
MUT:COL4A5:Gly380Ser	PROT:P29400	COL4A5	G	380	S	G380S	Pathogenic/Likely pathogenic	1	1	4	272
MUT:COL4A5:Gly383Arg	PROT:P29400	COL4A5	G	383	R	G383R	Pathogenic	1	1	4	269
MUT:COL4A5:Gly383Val	PROT:P29400	COL4A5	G	383	V	G383V	Pathogenic	1	1	4	269
MUT:COL4A5:Gly386Arg	PROT:P29400	COL4A5	G	386	R	G386R	Likely pathogenic	1	1	4	266
MUT:COL4A5:Gly397Val	PROT:P29400	COL4A5	G	397	V	G397V	Pathogenic/Likely pathogenic	1	1	4	255
MUT:COL4A5:Gly400Glu	PROT:P29400	COL4A5	G	400	E	G400E	Likely pathogenic	1	2	4	252
MUT:COL4A5:Gly400Val	PROT:P29400	COL4A5	G	400	V	G400V	Likely pathogenic	1	1	4	252
MUT:COL4A5:Gly403Ala	PROT:P29400	COL4A5	G	403	A	G403A	Likely pathogenic	1	1	4	249
MUT:COL4A5:Gly403Arg	PROT:P29400	COL4A5	G	403	R	G403R	Likely pathogenic	1	1	4	249
MUT:COL4A5:Gly406Cys	PROT:P29400	COL4A5	G	406	C	G406C	Likely pathogenic	1	1	4	246
MUT:COL4A5:Gly406Val	PROT:P29400	COL4A5	G	406	V	G406V	Pathogenic	1	1	4	246
MUT:COL4A5:Gly409Ala	PROT:P29400	COL4A5	G	409	A	G409A	Likely pathogenic	1	1	4	243
MUT:COL4A5:Gly409Asp	PROT:P29400	COL4A5	G	409	D	G409D	Pathogenic	1	3	4	243
MUT:COL4A5:Gly409Val	PROT:P29400	COL4A5	G	409	V	G409V	Pathogenic/Likely pathogenic	1	1	4	243
MUT:COL4A5:Gly412Arg	PROT:P29400	COL4A5	G	412	R	G412R	Likely pathogenic	1	1	4	240
MUT:COL4A5:Gly423Arg	PROT:P29400	COL4A5	G	423	R	G423R	Likely pathogenic	1	2	4	229
MUT:COL4A5:Gly426Arg	PROT:P29400	COL4A5	G	426	R	G426R	Pathogenic/Likely pathogenic	1	2	4	226
MUT:COL4A5:Gly429Glu	PROT:P29400	COL4A5	G	429	E	G429E	Pathogenic/Likely pathogenic	1	1	4	223
MUT:COL4A5:Gly432Glu	PROT:P29400	COL4A5	G	432	E	G432E	Likely pathogenic	1	1	4	220
MUT:COL4A5:Gly438Arg	PROT:P29400	COL4A5	G	438	R	G438R	Likely pathogenic	1	1	4	214
MUT:COL4A5:Gly438Ser	PROT:P29400	COL4A5	G	438	S	G438S	Likely pathogenic	1	1	4	214
MUT:COL4A5:Gly457Asp	PROT:P29400	COL4A5	G	457	D	G457D	Pathogenic/Likely pathogenic	1	1	4	195
MUT:COL4A5:Gly457Cys	PROT:P29400	COL4A5	G	457	C	G457C	Likely pathogenic	1	3	4	195
MUT:COL4A5:Gly457Ser	PROT:P29400	COL4A5	G	457	S	G457S	Likely pathogenic	1	1	4	195
MUT:COL4A5:Gly463Arg	PROT:P29400	COL4A5	G	463	R	G463R	Likely pathogenic	1	1	4	189
MUT:COL4A5:Gly472Arg	PROT:P29400	COL4A5	G	472	R	G472R	Pathogenic	1	1	4	180
MUT:COL4A5:Gly475Ser	PROT:P29400	COL4A5	G	475	S	G475S	Pathogenic	1	1	4	177
MUT:COL4A5:Gly48Arg	PROT:P29400	COL4A5	G	48	R	G48R	Likely pathogenic	1	1	4	604
MUT:COL4A5:Gly48Glu	PROT:P29400	COL4A5	G	48	E	G48E	Pathogenic	1	1	4	604
MUT:COL4A5:Gly494Arg	PROT:P29400	COL4A5	G	494	R	G494R	Likely pathogenic	1	1	4	158
MUT:COL4A5:Gly494Asp	PROT:P29400	COL4A5	G	494	D	G494D	Likely pathogenic	1	1	4	158
MUT:COL4A5:Gly494Cys	PROT:P29400	COL4A5	G	494	C	G494C	Pathogenic	1	1	4	158
MUT:COL4A5:Gly497Asp	PROT:P29400	COL4A5	G	497	D	G497D	Pathogenic/Likely pathogenic	1	2	4	155
MUT:COL4A5:Gly500Arg	PROT:P29400	COL4A5	G	500	R	G500R	Pathogenic	1	2	4	152
MUT:COL4A5:Gly500Val	PROT:P29400	COL4A5	G	500	V	G500V	Likely pathogenic	1	1	4	152
MUT:COL4A5:Gly509Arg	PROT:P29400	COL4A5	G	509	R	G509R	Pathogenic/Likely pathogenic	1	2	4	143
MUT:COL4A5:Gly509Ser	PROT:P29400	COL4A5	G	509	S	G509S	Likely pathogenic	1	1	4	143
MUT:COL4A5:Gly509Val	PROT:P29400	COL4A5	G	509	V	G509V	Likely pathogenic	1	1	4	143
MUT:COL4A5:Gly515Arg	PROT:P29400	COL4A5	G	515	R	G515R	Pathogenic	1	1	4	137
MUT:COL4A5:Gly51Arg	PROT:P29400	COL4A5	G	51	R	G51R	Likely pathogenic	1	1	4	601
MUT:COL4A5:Gly521Asp	PROT:P29400	COL4A5	G	521	D	G521D	Pathogenic	1	1	4	131
MUT:COL4A5:Gly521Cys	PROT:P29400	COL4A5	G	521	C	G521C	Pathogenic	1	1	4	131
MUT:COL4A5:Gly530Asp	PROT:P29400	COL4A5	G	530	D	G530D	Pathogenic	1	1	4	122
MUT:COL4A5:Gly542Glu	PROT:P29400	COL4A5	G	542	E	G542E	Likely pathogenic	1	1	4	110
MUT:COL4A5:Gly542Val	PROT:P29400	COL4A5	G	542	V	G542V	Likely pathogenic	1	2	4	110
MUT:COL4A5:Gly545Asp	PROT:P29400	COL4A5	G	545	D	G545D	Likely pathogenic	1	1	4	107
MUT:COL4A5:Gly548Asp	PROT:P29400	COL4A5	G	548	D	G548D	Pathogenic/Likely pathogenic	1	2	4	104
MUT:COL4A5:Gly54Arg	PROT:P29400	COL4A5	G	54	R	G54R	Pathogenic/Likely pathogenic	1	1	4	598
MUT:COL4A5:Gly54Asp	PROT:P29400	COL4A5	G	54	D	G54D	Pathogenic	1	1	4	598
MUT:COL4A5:Gly558Arg	PROT:P29400	COL4A5	G	558	R	G558R	Likely pathogenic	1	1	4	94
MUT:COL4A5:Gly558Asp	PROT:P29400	COL4A5	G	558	D	G558D	Pathogenic	1	1	4	94
MUT:COL4A5:Gly561Val	PROT:P29400	COL4A5	G	561	V	G561V	Likely pathogenic	1	1	4	91
MUT:COL4A5:Gly564Arg	PROT:P29400	COL4A5	G	564	R	G564R	Pathogenic/Likely pathogenic	1	1	4	88
MUT:COL4A5:Gly564Asp	PROT:P29400	COL4A5	G	564	D	G564D	Pathogenic	1	1	4	88
MUT:COL4A5:Gly564Cys	PROT:P29400	COL4A5	G	564	C	G564C	Pathogenic/Likely pathogenic	1	1	4	88
MUT:COL4A5:Gly570Arg	PROT:P29400	COL4A5	G	570	R	G570R	Likely pathogenic	1	1	4	82
MUT:COL4A5:Gly573Arg	PROT:P29400	COL4A5	G	573	R	G573R	Pathogenic	1	1	4	79
MUT:COL4A5:Gly573Ser	PROT:P29400	COL4A5	G	573	S	G573S	Likely pathogenic	1	1	4	79
MUT:COL4A5:Gly573Val	PROT:P29400	COL4A5	G	573	V	G573V	Pathogenic	1	1	4	79
MUT:COL4A5:Gly576Arg	PROT:P29400	COL4A5	G	576	R	G576R	Likely pathogenic	1	1	4	76
MUT:COL4A5:Gly576Asp	PROT:P29400	COL4A5	G	576	D	G576D	Pathogenic/Likely pathogenic	1	1	4	76
MUT:COL4A5:Gly576Ser	PROT:P29400	COL4A5	G	576	S	G576S	Likely pathogenic	1	1	4	76
MUT:COL4A5:Gly579Arg	PROT:P29400	COL4A5	G	579	R	G579R	Pathogenic	1	1	4	73
MUT:COL4A5:Gly579Glu	PROT:P29400	COL4A5	G	579	E	G579E	Likely pathogenic	1	1	4	73
MUT:COL4A5:Gly591Arg	PROT:P29400	COL4A5	G	591	R	G591R	Likely pathogenic	1	1	4	61
MUT:COL4A5:Gly594Asp	PROT:P29400	COL4A5	G	594	D	G594D	Pathogenic	1	1	4	58
MUT:COL4A5:Gly594Ser	PROT:P29400	COL4A5	G	594	S	G594S	Pathogenic/Likely pathogenic	1	2	4	58
MUT:COL4A5:Gly600Val	PROT:P29400	COL4A5	G	600	V	G600V	Likely pathogenic	1	1	4	52
MUT:COL4A5:Gly603Asp	PROT:P29400	COL4A5	G	603	D	G603D	Pathogenic/Likely pathogenic	1	1	4	49
MUT:COL4A5:Gly603Ser	PROT:P29400	COL4A5	G	603	S	G603S	Pathogenic	1	2	4	49
MUT:COL4A5:Gly603Val	PROT:P29400	COL4A5	G	603	V	G603V	Pathogenic	1	1	4	49
MUT:COL4A5:Gly606Glu	PROT:P29400	COL4A5	G	606	E	G606E	Pathogenic	1	1	4	46
MUT:COL4A5:Gly609Ala	PROT:P29400	COL4A5	G	609	A	G609A	Likely pathogenic	1	1	4	43
MUT:COL4A5:Gly609Ser	PROT:P29400	COL4A5	G	609	S	G609S	Pathogenic	1	1	4	43
MUT:COL4A5:Gly612Ser	PROT:P29400	COL4A5	G	612	S	G612S	Likely pathogenic	1	1	4	40
MUT:COL4A5:Gly615Ala	PROT:P29400	COL4A5	G	615	A	G615A	Likely pathogenic	1	1	4	37
MUT:COL4A5:Gly615Arg	PROT:P29400	COL4A5	G	615	R	G615R	Pathogenic	1	1	4	37
MUT:COL4A5:Gly618Arg	PROT:P29400	COL4A5	G	618	R	G618R	Likely pathogenic	1	1	4	34
MUT:COL4A5:Gly621Asp	PROT:P29400	COL4A5	G	621	D	G621D	Pathogenic/Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly621Ser	PROT:P29400	COL4A5	G	621	S	G621S	Pathogenic/Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly624Asp	PROT:P29400	COL4A5	G	624	D	G624D	Pathogenic/Likely pathogenic	1	4	4	28
MUT:COL4A5:Gly624Val	PROT:P29400	COL4A5	G	624	V	G624V	Pathogenic/Likely pathogenic	1	1	4	28
MUT:COL4A5:Gly629Asp	PROT:P29400	COL4A5	G	629	D	G629D	Pathogenic/Likely pathogenic	1	1	4	23
MUT:COL4A5:Gly632Ser	PROT:P29400	COL4A5	G	632	S	G632S	Likely pathogenic	1	1	4	20
MUT:COL4A5:Gly635Val	PROT:P29400	COL4A5	G	635	V	G635V	Pathogenic	1	1	4	17
MUT:COL4A5:Gly638Ala	PROT:P29400	COL4A5	G	638	A	G638A	Pathogenic	1	1	4	14
MUT:COL4A5:Gly638Arg	PROT:P29400	COL4A5	G	638	R	G638R	Pathogenic/Likely pathogenic	1	1	4	14
MUT:COL4A5:Gly638Asp	PROT:P29400	COL4A5	G	638	D	G638D	Likely pathogenic	1	1	4	14
MUT:COL4A5:Gly638Ser	PROT:P29400	COL4A5	G	638	S	G638S	Pathogenic	1	1	4	14
MUT:COL4A5:Gly641Arg	PROT:P29400	COL4A5	G	641	R	G641R	Likely pathogenic	1	1	4	11
MUT:COL4A5:Gly641Glu	PROT:P29400	COL4A5	G	641	E	G641E	Likely pathogenic	1	1	4	11
MUT:COL4A5:Gly644Cys	PROT:P29400	COL4A5	G	644	C	G644C	Likely pathogenic	1	1	4	8
MUT:COL4A5:Gly644Val	PROT:P29400	COL4A5	G	644	V	G644V	Likely pathogenic	1	1	4	8
MUT:COL4A5:Gly650Asp	PROT:P29400	COL4A5	G	650	D	G650D	Pathogenic/Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly650Ser	PROT:P29400	COL4A5	G	650	S	G650S	Pathogenic/Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly653Arg	PROT:P29400	COL4A5	G	653	R	G653R	Pathogenic/Likely pathogenic	1	1	4	1
MUT:COL4A5:Gly666Asp	PROT:P29400	COL4A5	G	666	D	G666D	Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly666Ser	PROT:P29400	COL4A5	G	666	S	G666S	Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly669Cys	PROT:P29400	COL4A5	G	669	C	G669C	Likely pathogenic	1	1	4	5
MUT:COL4A5:Gly675Ser	PROT:P29400	COL4A5	G	675	S	G675S	Pathogenic/Likely pathogenic	1	1	4	11
MUT:COL4A5:Gly684Ala	PROT:P29400	COL4A5	G	684	A	G684A	Likely pathogenic	1	1	4	20
MUT:COL4A5:Gly684Arg	PROT:P29400	COL4A5	G	684	R	G684R	Likely pathogenic	1	1	4	20
MUT:COL4A5:Gly696Asp	PROT:P29400	COL4A5	G	696	D	G696D	Pathogenic	1	1	4	32
MUT:COL4A5:Gly699Glu	PROT:P29400	COL4A5	G	699	E	G699E	Likely pathogenic	1	1	4	35
MUT:COL4A5:Gly702Arg	PROT:P29400	COL4A5	G	702	R	G702R	Likely pathogenic	1	1	4	38
MUT:COL4A5:Gly710Glu	PROT:P29400	COL4A5	G	710	E	G710E	Likely pathogenic	1	2	4	46
MUT:COL4A5:Gly716Ser	PROT:P29400	COL4A5	G	716	S	G716S	Pathogenic	1	1	4	52
MUT:COL4A5:Gly722Arg	PROT:P29400	COL4A5	G	722	R	G722R	Likely pathogenic	1	1	4	52
MUT:COL4A5:Gly722Val	PROT:P29400	COL4A5	G	722	V	G722V	Likely pathogenic	1	1	4	52
MUT:COL4A5:Gly728Glu	PROT:P29400	COL4A5	G	728	E	G728E	Likely pathogenic	1	1	4	46
MUT:COL4A5:Gly72Val	PROT:P29400	COL4A5	G	72	V	G72V	Likely pathogenic	1	1	4	580
MUT:COL4A5:Gly737Asp	PROT:P29400	COL4A5	G	737	D	G737D	Pathogenic/Likely pathogenic	1	1	4	37
MUT:COL4A5:Gly740Arg	PROT:P29400	COL4A5	G	740	R	G740R	Likely pathogenic	1	1	4	34
MUT:COL4A5:Gly743Ala	PROT:P29400	COL4A5	G	743	A	G743A	Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly743Ser	PROT:P29400	COL4A5	G	743	S	G743S	Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly743Val	PROT:P29400	COL4A5	G	743	V	G743V	Likely pathogenic	1	1	4	31
MUT:COL4A5:Gly746Arg	PROT:P29400	COL4A5	G	746	R	G746R	Pathogenic	1	1	4	28
MUT:COL4A5:Gly746Glu	PROT:P29400	COL4A5	G	746	E	G746E	Pathogenic/Likely pathogenic	1	1	4	28
MUT:COL4A5:Gly749Ser	PROT:P29400	COL4A5	G	749	S	G749S	Pathogenic	1	1	4	25
MUT:COL4A5:Gly757Arg	PROT:P29400	COL4A5	G	757	R	G757R	Likely pathogenic	1	1	4	17
MUT:COL4A5:Gly763Glu	PROT:P29400	COL4A5	G	763	E	G763E	Pathogenic/Likely pathogenic	1	2	4	11
MUT:COL4A5:Gly772Ser	PROT:P29400	COL4A5	G	772	S	G772S	Pathogenic/Likely pathogenic	1	1	4	2
MUT:COL4A5:Gly772Val	PROT:P29400	COL4A5	G	772	V	G772V	Pathogenic/Likely pathogenic	1	2	4	2
MUT:COL4A5:Gly775Ser	PROT:P29400	COL4A5	G	775	S	G775S	Pathogenic/Likely pathogenic	1	1	4	1
MUT:COL4A5:Gly778Arg	PROT:P29400	COL4A5	G	778	R	G778R	Likely pathogenic	1	1	4	4
MUT:COL4A5:Gly778Asp	PROT:P29400	COL4A5	G	778	D	G778D	Pathogenic	1	1	4	4
MUT:COL4A5:Gly778Ser	PROT:P29400	COL4A5	G	778	S	G778S	Pathogenic/Likely pathogenic	1	1	4	4
MUT:COL4A5:Gly784Asp	PROT:P29400	COL4A5	G	784	D	G784D	Likely pathogenic	1	1	4	10
MUT:COL4A5:Gly787Arg	PROT:P29400	COL4A5	G	787	R	G787R	Pathogenic	1	1	4	13
MUT:COL4A5:Gly787Glu	PROT:P29400	COL4A5	G	787	E	G787E	Likely pathogenic	1	1	4	13
MUT:COL4A5:Gly793Ala	PROT:P29400	COL4A5	G	793	A	G793A	Likely pathogenic	1	1	4	19
MUT:COL4A5:Gly793Glu	PROT:P29400	COL4A5	G	793	E	G793E	Likely pathogenic	1	1	4	19
MUT:COL4A5:Gly796Arg	PROT:P29400	COL4A5	G	796	R	G796R	Pathogenic	1	1	4	22
MUT:COL4A5:Gly796Glu	PROT:P29400	COL4A5	G	796	E	G796E	Pathogenic	1	1	4	22
MUT:COL4A5:Gly799Asp	PROT:P29400	COL4A5	G	799	D	G799D	Likely pathogenic	1	1	4	25
MUT:COL4A5:Gly802Arg	PROT:P29400	COL4A5	G	802	R	G802R	Pathogenic/Likely pathogenic	1	1	4	28
MUT:COL4A5:Gly808Arg	PROT:P29400	COL4A5	G	808	R	G808R	Likely pathogenic	1	1	4	34
MUT:COL4A5:Gly811Arg	PROT:P29400	COL4A5	G	811	R	G811R	Pathogenic	1	1	4	37
MUT:COL4A5:Gly811Val	PROT:P29400	COL4A5	G	811	V	G811V	Pathogenic	1	1	4	37
MUT:COL4A5:Gly814Arg	PROT:P29400	COL4A5	G	814	R	G814R	Likely pathogenic	1	1	4	40
MUT:COL4A5:Gly822Arg	PROT:P29400	COL4A5	G	822	R	G822R	Pathogenic/Likely pathogenic	1	1	4	48
MUT:COL4A5:Gly822Val	PROT:P29400	COL4A5	G	822	V	G822V	Pathogenic/Likely pathogenic	1	2	4	48
MUT:COL4A5:Gly825Arg	PROT:P29400	COL4A5	G	825	R	G825R	Pathogenic/Likely pathogenic	1	1	4	51
MUT:COL4A5:Gly825Glu	PROT:P29400	COL4A5	G	825	E	G825E	Pathogenic/Likely pathogenic	1	1	4	51
MUT:COL4A5:Gly828Arg	PROT:P29400	COL4A5	G	828	R	G828R	Likely pathogenic	1	1	4	54
MUT:COL4A5:Gly831Glu	PROT:P29400	COL4A5	G	831	E	G831E	Pathogenic/Likely pathogenic	1	1	4	57
MUT:COL4A5:Gly834Arg	PROT:P29400	COL4A5	G	834	R	G834R	Pathogenic	1	1	4	60
MUT:COL4A5:Gly834Val	PROT:P29400	COL4A5	G	834	V	G834V	Pathogenic	1	1	4	60
MUT:COL4A5:Gly837Ser	PROT:P29400	COL4A5	G	837	S	G837S	Pathogenic	1	1	4	63
MUT:COL4A5:Gly840Val	PROT:P29400	COL4A5	G	840	V	G840V	Likely pathogenic	1	1	4	66
MUT:COL4A5:Gly846Arg	PROT:P29400	COL4A5	G	846	R	G846R	Likely pathogenic	1	1	4	72
MUT:COL4A5:Gly846Glu	PROT:P29400	COL4A5	G	846	E	G846E	Likely pathogenic	1	2	4	72
MUT:COL4A5:Gly860Arg	PROT:P29400	COL4A5	G	860	R	G860R	Pathogenic	1	2	4	86
MUT:COL4A5:Gly860Asp	PROT:P29400	COL4A5	G	860	D	G860D	Likely pathogenic	1	1	4	86
MUT:COL4A5:Gly863Ser	PROT:P29400	COL4A5	G	863	S	G863S	Likely pathogenic	1	1	4	89
MUT:COL4A5:Gly866Glu	PROT:P29400	COL4A5	G	866	E	G866E	Likely pathogenic	1	1	4	92
MUT:COL4A5:Gly869Ala	PROT:P29400	COL4A5	G	869	A	G869A	Likely pathogenic	1	1	4	95
MUT:COL4A5:Gly869Arg	PROT:P29400	COL4A5	G	869	R	G869R	Pathogenic/Likely pathogenic	1	4	4	95
MUT:COL4A5:Gly869Val	PROT:P29400	COL4A5	G	869	V	G869V	Pathogenic	1	1	4	95
MUT:COL4A5:Gly872Ala	PROT:P29400	COL4A5	G	872	A	G872A	Likely pathogenic	1	1	4	98
MUT:COL4A5:Gly872Cys	PROT:P29400	COL4A5	G	872	C	G872C	Pathogenic	1	1	4	98
MUT:COL4A5:Gly872Val	PROT:P29400	COL4A5	G	872	V	G872V	Likely pathogenic	1	1	4	98
MUT:COL4A5:Gly878Ala	PROT:P29400	COL4A5	G	878	A	G878A	Pathogenic/Likely pathogenic	1	1	4	104
MUT:COL4A5:Gly878Glu	PROT:P29400	COL4A5	G	878	E	G878E	Pathogenic	1	2	4	104
MUT:COL4A5:Gly881Arg	PROT:P29400	COL4A5	G	881	R	G881R	Pathogenic	1	1	4	107
MUT:COL4A5:Gly881Glu	PROT:P29400	COL4A5	G	881	E	G881E	Likely pathogenic	1	1	4	107
MUT:COL4A5:Gly881Val	PROT:P29400	COL4A5	G	881	V	G881V	Likely pathogenic	1	1	4	107
MUT:COL4A5:Gly884Arg	PROT:P29400	COL4A5	G	884	R	G884R	Likely pathogenic	1	1	4	110
MUT:COL4A5:Gly890Arg	PROT:P29400	COL4A5	G	890	R	G890R	Likely pathogenic	1	1	4	116
MUT:COL4A5:Gly893Ala	PROT:P29400	COL4A5	G	893	A	G893A	Pathogenic	1	1	4	119
MUT:COL4A5:Gly893Ser	PROT:P29400	COL4A5	G	893	S	G893S	Likely pathogenic	1	1	4	119
MUT:COL4A5:Gly893Val	PROT:P29400	COL4A5	G	893	V	G893V	Pathogenic/Likely pathogenic	1	1	4	119
MUT:COL4A5:Gly896Ser	PROT:P29400	COL4A5	G	896	S	G896S	Pathogenic/Likely pathogenic	1	2	4	122
MUT:COL4A5:Gly896Val	PROT:P29400	COL4A5	G	896	V	G896V	Pathogenic	1	1	4	122
MUT:COL4A5:Gly899Asp	PROT:P29400	COL4A5	G	899	D	G899D	Pathogenic/Likely pathogenic	1	1	4	125
MUT:COL4A5:Gly899Ser	PROT:P29400	COL4A5	G	899	S	G899S	Likely pathogenic	1	1	4	125
MUT:COL4A5:Gly905Arg	PROT:P29400	COL4A5	G	905	R	G905R	Likely pathogenic	1	1	4	131
MUT:COL4A5:Gly908Arg	PROT:P29400	COL4A5	G	908	R	G908R	Likely pathogenic	1	1	4	134
MUT:COL4A5:Gly908Glu	PROT:P29400	COL4A5	G	908	E	G908E	Likely pathogenic	1	1	4	134
MUT:COL4A5:Gly911Glu	PROT:P29400	COL4A5	G	911	E	G911E	Pathogenic/Likely pathogenic	1	2	4	137
MUT:COL4A5:Gly914Asp	PROT:P29400	COL4A5	G	914	D	G914D	Pathogenic	1	1	4	140
MUT:COL4A5:Gly923Asp	PROT:P29400	COL4A5	G	923	D	G923D	Likely pathogenic	1	1	4	149
MUT:COL4A5:Gly926Ser	PROT:P29400	COL4A5	G	926	S	G926S	Likely pathogenic	1	1	4	152
MUT:COL4A5:Gly929Ser	PROT:P29400	COL4A5	G	929	S	G929S	Likely pathogenic	1	1	4	155
MUT:COL4A5:Gly932Arg	PROT:P29400	COL4A5	G	932	R	G932R	Likely pathogenic	1	1	4	158
MUT:COL4A5:Gly935Asp	PROT:P29400	COL4A5	G	935	D	G935D	Pathogenic/Likely pathogenic	1	1	4	161
MUT:COL4A5:Gly941Arg	PROT:P29400	COL4A5	G	941	R	G941R	Likely pathogenic	1	1	4	167
MUT:COL4A5:Gly944Glu	PROT:P29400	COL4A5	G	944	E	G944E	Likely pathogenic	1	1	4	170
MUT:COL4A5:Gly950Arg	PROT:P29400	COL4A5	G	950	R	G950R	Likely pathogenic	1	1	4	176
MUT:COL4A5:Gly96Val	PROT:P29400	COL4A5	G	96	V	G96V	Likely pathogenic	1	1	4	556
MUT:COL4A5:Gly970Ser	PROT:P29400	COL4A5	G	970	S	G970S	Likely pathogenic	1	1	4	196
MUT:COL4A5:Gly976Glu	PROT:P29400	COL4A5	G	976	E	G976E	Likely pathogenic	1	1	4	202
MUT:COL4A5:Gly988Glu	PROT:P29400	COL4A5	G	988	E	G988E	Likely pathogenic	1	1	4	214
MUT:COL4A5:Gly994Arg	PROT:P29400	COL4A5	G	994	R	G994R	Likely pathogenic	1	1	4	220
MUT:COL4A5:Gly99Arg	PROT:P29400	COL4A5	G	99	R	G99R	Likely pathogenic	1	1	4	553
MUT:COL4A5:Ile1359Val	PROT:P29400	COL4A5	I	1359	V	I1359V	Likely benign	0	1	4	24
MUT:COL4A5:Ile1529Thr	PROT:P29400	COL4A5	I	1529	T	I1529T	Likely benign	0	1	4	194
MUT:COL4A5:Ile190Val	PROT:P29400	COL4A5	I	190	V	I190V	Likely benign	0	1	4	462
MUT:COL4A5:Ile194Val	PROT:P29400	COL4A5	I	194	V	I194V	Benign	0	2	4	458
MUT:COL4A5:Ile353Val	PROT:P29400	COL4A5	I	353	V	I353V	Likely benign	0	1	4	299
MUT:COL4A5:Ile444Ser	PROT:P29400	COL4A5	I	444	S	I444S	Benign/Likely benign	0	5	4	208
MUT:COL4A5:Ile450Met	PROT:P29400	COL4A5	I	450	M	I450M	Benign	0	3	4	202
MUT:COL4A5:Ile703Val	PROT:P29400	COL4A5	I	703	V	I703V	Benign	0	1	4	39
MUT:COL4A5:Leu1358Ile	PROT:P29400	COL4A5	L	1358	I	L1358I	Benign/Likely benign	0	1	4	23
MUT:COL4A5:Leu1392Pro	PROT:P29400	COL4A5	L	1392	P	L1392P	Likely benign	0	1	4	57
MUT:COL4A5:Leu1469Arg	PROT:P29400	COL4A5	L	1469	R	L1469R	Likely pathogenic	1	1	4	134
MUT:COL4A5:Leu1655Arg	PROT:P29400	COL4A5	L	1655	R	L1655R	Pathogenic/Likely pathogenic	1	3	4	320
MUT:COL4A5:Leu933Phe	PROT:P29400	COL4A5	L	933	F	L933F	Benign/Likely benign	0	1	4	159
MUT:COL4A5:Lys664Asn	PROT:P29400	COL4A5	K	664	N	K664N	Benign	0	2	4	0
MUT:COL4A5:Met1607Ile	PROT:P29400	COL4A5	M	1607	I	M1607I	Pathogenic/Likely pathogenic	1	3	4	272
MUT:COL4A5:Met163Thr	PROT:P29400	COL4A5	M	163	T	M163T	Benign/Likely benign	0	2	4	489
MUT:COL4A5:Met1Arg	PROT:P29400	COL4A5	M	1	R	M1R	Likely pathogenic	1	1	4	651
MUT:COL4A5:Met1Lys	PROT:P29400	COL4A5	M	1	K	M1K	Pathogenic	1	1	4	651
MUT:COL4A5:Met1Val	PROT:P29400	COL4A5	M	1	V	M1V	Pathogenic	1	1	4	651
MUT:COL4A5:Phe222Cys	PROT:P29400	COL4A5	F	222	C	F222C	Pathogenic	1	1	4	430
MUT:COL4A5:Pro1050Ser	PROT:P29400	COL4A5	P	1050	S	P1050S	Benign/Likely benign	0	2	4	276
MUT:COL4A5:Pro1094Thr	PROT:P29400	COL4A5	P	1094	T	P1094T	Likely benign	0	1	4	241
MUT:COL4A5:Pro1118Arg	PROT:P29400	COL4A5	P	1118	R	P1118R	Likely pathogenic	1	1	4	217
MUT:COL4A5:Pro1129Leu	PROT:P29400	COL4A5	P	1129	L	P1129L	Likely benign	0	1	4	206
MUT:COL4A5:Pro1216Leu	PROT:P29400	COL4A5	P	1216	L	P1216L	Likely benign	0	1	4	119
MUT:COL4A5:Pro1277Thr	PROT:P29400	COL4A5	P	1277	T	P1277T	Benign	0	1	4	58
MUT:COL4A5:Pro1590Arg	PROT:P29400	COL4A5	P	1590	R	P1590R	Likely pathogenic	1	1	4	255
MUT:COL4A5:Pro1590His	PROT:P29400	COL4A5	P	1590	H	P1590H	Pathogenic	1	1	4	255
MUT:COL4A5:Pro1590Leu	PROT:P29400	COL4A5	P	1590	L	P1590L	Likely pathogenic	1	1	4	255
MUT:COL4A5:Pro225Leu	PROT:P29400	COL4A5	P	225	L	P225L	Likely pathogenic	1	1	4	427
MUT:COL4A5:Pro364Leu	PROT:P29400	COL4A5	P	364	L	P364L	Likely pathogenic	1	1	4	288
MUT:COL4A5:Pro364Ser	PROT:P29400	COL4A5	P	364	S	P364S	Likely pathogenic	1	1	4	288
MUT:COL4A5:Pro396Leu	PROT:P29400	COL4A5	P	396	L	P396L	Benign/Likely benign	0	2	4	256
MUT:COL4A5:Pro529Gln	PROT:P29400	COL4A5	P	529	Q	P529Q	Benign	0	1	4	123
MUT:COL4A5:Pro604Thr	PROT:P29400	COL4A5	P	604	T	P604T	Benign	0	1	4	48
MUT:COL4A5:Ser136Gly	PROT:P29400	COL4A5	S	136	G	S136G	Benign/Likely benign	0	1	4	516
MUT:COL4A5:Ser1568Arg	PROT:P29400	COL4A5	S	1568	R	S1568R	Likely pathogenic	1	1	4	233
MUT:COL4A5:Ser1604Phe	PROT:P29400	COL4A5	S	1604	F	S1604F	Likely pathogenic	1	1	4	269
MUT:COL4A5:Ser490Leu	PROT:P29400	COL4A5	S	490	L	S490L	Benign/Likely benign	0	1	4	162
MUT:COL4A5:Thr1408Ser	PROT:P29400	COL4A5	T	1408	S	T1408S	Benign/Likely benign	0	2	4	73
MUT:COL4A5:Thr1671Met	PROT:P29400	COL4A5	T	1671	M	T1671M	Benign/Likely benign	0	2	4	336
MUT:COL4A5:Thr660Ile	PROT:P29400	COL4A5	T	660	I	T660I	Benign/Likely benign	0	1	4	4
MUT:COL4A5:Trp1544Ser	PROT:P29400	COL4A5	W	1544	S	W1544S	Pathogenic	1	1	4	209
MUT:COL4A5:Tyr1090His	PROT:P29400	COL4A5	Y	1090	H	Y1090H	Benign/Likely benign	0	1	4	245
MUT:COL4A5:Tyr1603Cys	PROT:P29400	COL4A5	Y	1603	C	Y1603C	Pathogenic/Likely pathogenic	1	1	4	268
MUT:COL5A1:Ala114Asp	PROT:P20908	COL5A1	A	114	D	A114D	Likely benign	0	6	9	35
MUT:COL5A1:Ala1262Thr	PROT:P20908	COL5A1	A	1262	T	A1262T	Benign	0	1	9	129
MUT:COL5A1:Ala1319Asp	PROT:P20908	COL5A1	A	1319	D	A1319D	Likely benign	0	1	9	72
MUT:COL5A1:Ala1356Thr	PROT:P20908	COL5A1	A	1356	T	A1356T	Likely benign	0	3	9	35
MUT:COL5A1:Ala1430Asp	PROT:P20908	COL5A1	A	1430	D	A1430D	Likely benign	0	1	9	39
MUT:COL5A1:Ala1580Val	PROT:P20908	COL5A1	A	1580	V	A1580V	Benign	0	1	9	106
MUT:COL5A1:Ala1605Gly	PROT:P20908	COL5A1	A	1605	G	A1605G	Benign	0	1	9	81
MUT:COL5A1:Ala1605Val	PROT:P20908	COL5A1	A	1605	V	A1605V	Likely benign	0	3	9	81
MUT:COL5A1:Ala1718Thr	PROT:P20908	COL5A1	A	1718	T	A1718T	Benign	0	1	9	32
MUT:COL5A1:Ala17Ser	PROT:P20908	COL5A1	A	17	S	A17S	Benign	0	1	9	62
MUT:COL5A1:Ala233Gly	PROT:P20908	COL5A1	A	233	G	A233G	Benign	0	1	9	154
MUT:COL5A1:Ala317Thr	PROT:P20908	COL5A1	A	317	T	A317T	Likely benign	0	1	9	201
MUT:COL5A1:Ala372Asp	PROT:P20908	COL5A1	A	372	D	A372D	Likely benign	0	1	9	146
MUT:COL5A1:Ala372Ser	PROT:P20908	COL5A1	A	372	S	A372S	Likely benign	0	2	9	146
MUT:COL5A1:Ala37Pro	PROT:P20908	COL5A1	A	37	P	A37P	Pathogenic	1	1	9	42
MUT:COL5A1:Ala381Ser	PROT:P20908	COL5A1	A	381	S	A381S	Benign	0	1	9	137
MUT:COL5A1:Ala397Val	PROT:P20908	COL5A1	A	397	V	A397V	Benign	0	1	9	121
MUT:COL5A1:Ala459Val	PROT:P20908	COL5A1	A	459	V	A459V	Likely benign	0	1	9	59
MUT:COL5A1:Ala553Thr	PROT:P20908	COL5A1	A	553	T	A553T	Likely benign	0	1	9	13
MUT:COL5A1:Ala603Ser	PROT:P20908	COL5A1	A	603	S	A603S	Benign	0	1	9	11
MUT:COL5A1:Ala63Thr	PROT:P20908	COL5A1	A	63	T	A63T	Benign	0	1	9	16
MUT:COL5A1:Ala63Val	PROT:P20908	COL5A1	A	63	V	A63V	Benign	0	1	9	16
MUT:COL5A1:Ala728Thr	PROT:P20908	COL5A1	A	728	T	A728T	Likely benign	0	4	9	104
MUT:COL5A1:Ala85Thr	PROT:P20908	COL5A1	A	85	T	A85T	Benign	0	1	9	6
MUT:COL5A1:Ala93Val	PROT:P20908	COL5A1	A	93	V	A93V	Benign/Likely benign	0	6	9	14
MUT:COL5A1:Arg1056His	PROT:P20908	COL5A1	R	1056	H	R1056H	Likely benign	0	1	9	172
MUT:COL5A1:Arg1062Gln	PROT:P20908	COL5A1	R	1062	Q	R1062Q	Likely benign	0	2	9	178
MUT:COL5A1:Arg1440Gln	PROT:P20908	COL5A1	R	1440	Q	R1440Q	Likely benign	0	1	9	49
MUT:COL5A1:Arg1503Cys	PROT:P20908	COL5A1	R	1503	C	R1503C	Likely benign	0	1	9	112
MUT:COL5A1:Arg156Gln	PROT:P20908	COL5A1	R	156	Q	R156Q	Benign/Likely benign	0	1	9	77
MUT:COL5A1:Arg1732Gln	PROT:P20908	COL5A1	R	1732	Q	R1732Q	Benign	0	1	9	46
MUT:COL5A1:Arg1783Cys	PROT:P20908	COL5A1	R	1783	C	R1783C	Benign	0	1	9	97
MUT:COL5A1:Arg193His	PROT:P20908	COL5A1	R	193	H	R193H	Benign	0	1	9	114
MUT:COL5A1:Arg410Trp	PROT:P20908	COL5A1	R	410	W	R410W	Benign/Likely benign	0	1	9	108
MUT:COL5A1:Arg449Gln	PROT:P20908	COL5A1	R	449	Q	R449Q	Benign	0	1	9	69
MUT:COL5A1:Arg65Gln	PROT:P20908	COL5A1	R	65	Q	R65Q	Benign/Likely benign	0	5	9	14
MUT:COL5A1:Arg65Trp	PROT:P20908	COL5A1	R	65	W	R65W	Benign/Likely benign	0	5	9	14
MUT:COL5A1:Arg66Gln	PROT:P20908	COL5A1	R	66	Q	R66Q	Benign	0	1	9	13
MUT:COL5A1:Arg681Gly	PROT:P20908	COL5A1	R	681	G	R681G	Likely benign	0	1	9	57
MUT:COL5A1:Arg801His	PROT:P20908	COL5A1	R	801	H	R801H	Likely benign	0	1	9	83
MUT:COL5A1:Arg828Trp	PROT:P20908	COL5A1	R	828	W	R828W	Likely benign	0	4	9	56
MUT:COL5A1:Arg909Trp	PROT:P20908	COL5A1	R	909	W	R909W	Benign	0	1	9	25
MUT:COL5A1:Asn1616Ser	PROT:P20908	COL5A1	N	1616	S	N1616S	Benign	0	1	9	70
MUT:COL5A1:Asn1721Ser	PROT:P20908	COL5A1	N	1721	S	N1721S	Likely benign	0	1	9	35
MUT:COL5A1:Asn50Thr	PROT:P20908	COL5A1	N	50	T	N50T	Benign/Likely benign	0	2	9	29
MUT:COL5A1:Asn951Ser	PROT:P20908	COL5A1	N	951	S	N951S	Benign/Likely benign	0	4	9	67
MUT:COL5A1:Asp1458Asn	PROT:P20908	COL5A1	D	1458	N	D1458N	Likely benign	0	2	9	67
MUT:COL5A1:Asp1771Tyr	PROT:P20908	COL5A1	D	1771	Y	D1771Y	Benign	0	1	9	85
MUT:COL5A1:Asp1803Asn	PROT:P20908	COL5A1	D	1803	N	D1803N	Benign/Likely benign	0	4	9	117
MUT:COL5A1:Asp182Asn	PROT:P20908	COL5A1	D	182	N	D182N	Likely benign	0	1	9	103
MUT:COL5A1:Asp192Asn	PROT:P20908	COL5A1	D	192	N	D192N	Benign/Likely benign	0	5	9	113
MUT:COL5A1:Asp353His	PROT:P20908	COL5A1	D	353	H	D353H	Likely benign	0	1	9	165
MUT:COL5A1:Asp418Asn	PROT:P20908	COL5A1	D	418	N	D418N	Benign	0	1	9	100
MUT:COL5A1:Asp418His	PROT:P20908	COL5A1	D	418	H	D418H	Benign	0	1	9	100
MUT:COL5A1:Asp494Asn	PROT:P20908	COL5A1	D	494	N	D494N	Benign	0	1	9	24
MUT:COL5A1:Asp659Glu	PROT:P20908	COL5A1	D	659	E	D659E	Benign/Likely benign	0	2	9	35
MUT:COL5A1:Asp798Asn	PROT:P20908	COL5A1	D	798	N	D798N	Benign	0	1	9	86
MUT:COL5A1:Cys1639Ser	PROT:P20908	COL5A1	C	1639	S	C1639S	Pathogenic	1	2	9	47
MUT:COL5A1:Cys1639Tyr	PROT:P20908	COL5A1	C	1639	Y	C1639Y	Likely pathogenic	1	1	9	47
MUT:COL5A1:Cys1671Tyr	PROT:P20908	COL5A1	C	1671	Y	C1671Y	Pathogenic	1	1	9	15
MUT:COL5A1:Cys1835Gly	PROT:P20908	COL5A1	C	1835	G	C1835G	Likely pathogenic	1	1	9	149
MUT:COL5A1:Cys244Tyr	PROT:P20908	COL5A1	C	244	Y	C244Y	Benign	0	1	9	165
MUT:COL5A1:Gln123Arg	PROT:P20908	COL5A1	Q	123	R	Q123R	Benign	0	1	9	44
MUT:COL5A1:Gln126His	PROT:P20908	COL5A1	Q	126	H	Q126H	Benign/Likely benign	0	4	9	47
MUT:COL5A1:Gln1796His	PROT:P20908	COL5A1	Q	1796	H	Q1796H	Likely benign	0	1	9	110
MUT:COL5A1:Gln438His	PROT:P20908	COL5A1	Q	438	H	Q438H	Likely benign	0	1	9	80
MUT:COL5A1:Gln623His	PROT:P20908	COL5A1	Q	623	H	Q623H	Benign	0	1	9	1
MUT:COL5A1:Gln82His	PROT:P20908	COL5A1	Q	82	H	Q82H	Likely benign	0	1	9	3
MUT:COL5A1:Glu1163Ala	PROT:P20908	COL5A1	E	1163	A	E1163A	Benign/Likely benign	0	2	9	228
MUT:COL5A1:Glu1163Lys	PROT:P20908	COL5A1	E	1163	K	E1163K	Likely benign	0	1	9	228
MUT:COL5A1:Glu1283Lys	PROT:P20908	COL5A1	E	1283	K	E1283K	Likely benign	0	1	9	108
MUT:COL5A1:Glu1292Lys	PROT:P20908	COL5A1	E	1292	K	E1292K	Pathogenic/Likely pathogenic	1	2	9	99
MUT:COL5A1:Glu141Lys	PROT:P20908	COL5A1	E	141	K	E141K	Likely benign	0	1	9	62
MUT:COL5A1:Glu1599Gln	PROT:P20908	COL5A1	E	1599	Q	E1599Q	Benign/Likely benign	0	4	9	87
MUT:COL5A1:Glu1623Asp	PROT:P20908	COL5A1	E	1623	D	E1623D	Likely benign	0	1	9	63
MUT:COL5A1:Glu1688Lys	PROT:P20908	COL5A1	E	1688	K	E1688K	Benign	0	1	9	2
MUT:COL5A1:Glu1698Gly	PROT:P20908	COL5A1	E	1698	G	E1698G	Likely benign	0	1	9	12
MUT:COL5A1:Glu1719Lys	PROT:P20908	COL5A1	E	1719	K	E1719K	Likely benign	0	1	9	33
MUT:COL5A1:Glu261Gln	PROT:P20908	COL5A1	E	261	Q	E261Q	Likely benign	0	1	9	182
MUT:COL5A1:Glu276Lys	PROT:P20908	COL5A1	E	276	K	E276K	Likely benign	0	1	9	197
MUT:COL5A1:Glu284Gly	PROT:P20908	COL5A1	E	284	G	E284G	Benign	0	1	9	205
MUT:COL5A1:Glu284Lys	PROT:P20908	COL5A1	E	284	K	E284K	Benign/Likely benign	0	4	9	205
MUT:COL5A1:Glu401Lys	PROT:P20908	COL5A1	E	401	K	E401K	Benign	0	1	9	117
MUT:COL5A1:Glu403Ala	PROT:P20908	COL5A1	E	403	A	E403A	Benign	0	1	9	115
MUT:COL5A1:Glu462Lys	PROT:P20908	COL5A1	E	462	K	E462K	Likely benign	0	1	9	56
MUT:COL5A1:Glu468Gln	PROT:P20908	COL5A1	E	468	Q	E468Q	Likely benign	0	1	9	50
MUT:COL5A1:Glu584Lys	PROT:P20908	COL5A1	E	584	K	E584K	Benign/Likely benign	0	1	9	17
MUT:COL5A1:Glu641Asp	PROT:P20908	COL5A1	E	641	D	E641D	Benign	0	1	9	17
MUT:COL5A1:Glu677Asp	PROT:P20908	COL5A1	E	677	D	E677D	Benign	0	1	9	53
MUT:COL5A1:Glu809Lys	PROT:P20908	COL5A1	E	809	K	E809K	Benign	0	1	9	75
MUT:COL5A1:Gly1039Asp	PROT:P20908	COL5A1	G	1039	D	G1039D	Likely pathogenic	1	1	9	155
MUT:COL5A1:Gly1114Glu	PROT:P20908	COL5A1	G	1114	E	G1114E	Likely benign	0	1	9	230
MUT:COL5A1:Gly1270Ser	PROT:P20908	COL5A1	G	1270	S	G1270S	Likely pathogenic	1	1	9	121
MUT:COL5A1:Gly1299Asp	PROT:P20908	COL5A1	G	1299	D	G1299D	Likely benign	0	1	9	92
MUT:COL5A1:Gly1372Arg	PROT:P20908	COL5A1	G	1372	R	G1372R	Pathogenic	1	1	9	19
MUT:COL5A1:Gly1378Ser	PROT:P20908	COL5A1	G	1378	S	G1378S	Likely pathogenic	1	1	9	13
MUT:COL5A1:Gly1450Arg	PROT:P20908	COL5A1	G	1450	R	G1450R	Likely pathogenic	1	1	9	59
MUT:COL5A1:Gly1477Asp	PROT:P20908	COL5A1	G	1477	D	G1477D	Likely pathogenic	1	1	9	86
MUT:COL5A1:Gly1489Arg	PROT:P20908	COL5A1	G	1489	R	G1489R	Pathogenic/Likely pathogenic	1	1	9	98
MUT:COL5A1:Gly1492Ser	PROT:P20908	COL5A1	G	1492	S	G1492S	Pathogenic/Likely pathogenic	1	1	9	101
MUT:COL5A1:Gly1677Arg	PROT:P20908	COL5A1	G	1677	R	G1677R	Likely benign	0	1	9	9
MUT:COL5A1:Gly334Ser	PROT:P20908	COL5A1	G	334	S	G334S	Benign	0	1	9	184
MUT:COL5A1:Gly336Arg	PROT:P20908	COL5A1	G	336	R	G336R	Likely benign	0	2	9	182
MUT:COL5A1:Gly478Ala	PROT:P20908	COL5A1	G	478	A	G478A	Likely pathogenic	1	1	9	40
MUT:COL5A1:Gly481Arg	PROT:P20908	COL5A1	G	481	R	G481R	Likely pathogenic	1	1	9	37
MUT:COL5A1:Gly514Phe	PROT:P20908	COL5A1	G	514	F	G514F	Likely pathogenic	1	1	9	4
MUT:COL5A1:Gly528Val	PROT:P20908	COL5A1	G	528	V	G528V	Benign	0	1	9	10
MUT:COL5A1:Gly530Ser	PROT:P20908	COL5A1	G	530	S	G530S	Benign/Likely benign	0	6	9	10
MUT:COL5A1:Gly637Val	PROT:P20908	COL5A1	G	637	V	G637V	Likely pathogenic	1	1	9	13
MUT:COL5A1:Gly793Glu	PROT:P20908	COL5A1	G	793	E	G793E	Likely pathogenic	1	1	9	91
MUT:COL5A1:Gly835Ala	PROT:P20908	COL5A1	G	835	A	G835A	Likely pathogenic	1	1	9	49
MUT:COL5A1:Gly838Arg	PROT:P20908	COL5A1	G	838	R	G838R	Likely pathogenic	1	1	9	46
MUT:COL5A1:Gly849Arg	PROT:P20908	COL5A1	G	849	R	G849R	Benign	0	2	9	35
MUT:COL5A1:Gly856Ser	PROT:P20908	COL5A1	G	856	S	G856S	Likely pathogenic	1	1	9	28
MUT:COL5A1:Gly874Glu	PROT:P20908	COL5A1	G	874	E	G874E	Pathogenic	1	1	9	10
MUT:COL5A1:Gly899Ser	PROT:P20908	COL5A1	G	899	S	G899S	Benign/Likely benign	0	3	9	15
MUT:COL5A1:Gly938Arg	PROT:P20908	COL5A1	G	938	R	G938R	Benign	0	1	9	54
MUT:COL5A1:His1484Tyr	PROT:P20908	COL5A1	H	1484	Y	H1484Y	Likely benign	0	1	9	93
MUT:COL5A1:His977Tyr	PROT:P20908	COL5A1	H	977	Y	H977Y	Benign	0	1	9	93
MUT:COL5A1:Ile1425Phe	PROT:P20908	COL5A1	I	1425	F	I1425F	Benign	0	1	9	34
MUT:COL5A1:Ile1527Thr	PROT:P20908	COL5A1	I	1527	T	I1527T	Benign	0	1	9	136
MUT:COL5A1:Ile1611Phe	PROT:P20908	COL5A1	I	1611	F	I1611F	Likely benign	0	1	9	75
MUT:COL5A1:Ile180Met	PROT:P20908	COL5A1	I	180	M	I180M	Benign	0	1	9	101
MUT:COL5A1:Ile180Val	PROT:P20908	COL5A1	I	180	V	I180V	Likely benign	0	1	9	101
MUT:COL5A1:Ile199Met	PROT:P20908	COL5A1	I	199	M	I199M	Likely benign	0	3	9	120
MUT:COL5A1:Ile199Val	PROT:P20908	COL5A1	I	199	V	I199V	Benign	0	1	9	120
MUT:COL5A1:Ile201Leu	PROT:P20908	COL5A1	I	201	L	I201L	Benign	0	1	9	122
MUT:COL5A1:Ile204Thr	PROT:P20908	COL5A1	I	204	T	I204T	Likely benign	0	1	9	125
MUT:COL5A1:Ile211Phe	PROT:P20908	COL5A1	I	211	F	I211F	Likely benign	0	1	9	132
MUT:COL5A1:Ile441Thr	PROT:P20908	COL5A1	I	441	T	I441T	Likely benign	0	1	9	77
MUT:COL5A1:Ile461Met	PROT:P20908	COL5A1	I	461	M	I461M	Benign	0	1	9	57
MUT:COL5A1:Ile461Phe	PROT:P20908	COL5A1	I	461	F	I461F	Likely benign	0	1	9	57
MUT:COL5A1:Leu13Phe	PROT:P20908	COL5A1	L	13	F	L13F	Likely benign	0	3	9	66
MUT:COL5A1:Leu1469Phe	PROT:P20908	COL5A1	L	1469	F	L1469F	Likely benign	0	1	9	78
MUT:COL5A1:Leu1629Val	PROT:P20908	COL5A1	L	1629	V	L1629V	Benign	0	1	9	57
MUT:COL5A1:Leu1785Pro	PROT:P20908	COL5A1	L	1785	P	L1785P	Benign	0	1	9	99
MUT:COL5A1:Leu23Val	PROT:P20908	COL5A1	L	23	V	L23V	Likely benign	0	1	9	56
MUT:COL5A1:Leu25Arg	PROT:P20908	COL5A1	L	25	R	L25R	Pathogenic	1	1	9	54
MUT:COL5A1:Leu25Pro	PROT:P20908	COL5A1	L	25	P	L25P	Pathogenic	1	1	9	54
MUT:COL5A1:Leu286Pro	PROT:P20908	COL5A1	L	286	P	L286P	Benign	0	1	9	207
MUT:COL5A1:Lys107Arg	PROT:P20908	COL5A1	K	107	R	K107R	Likely benign	0	1	9	28
MUT:COL5A1:Lys1686Arg	PROT:P20908	COL5A1	K	1686	R	K1686R	Benign	0	1	9	0
MUT:COL5A1:Lys174Arg	PROT:P20908	COL5A1	K	174	R	K174R	Benign/Likely benign	0	2	9	95
MUT:COL5A1:Lys1797Arg	PROT:P20908	COL5A1	K	1797	R	K1797R	Likely benign	0	1	9	111
MUT:COL5A1:Lys186Arg	PROT:P20908	COL5A1	K	186	R	K186R	Likely benign	0	1	9	107
MUT:COL5A1:Lys301Glu	PROT:P20908	COL5A1	K	301	E	K301E	Benign	0	1	9	217
MUT:COL5A1:Lys866Asn	PROT:P20908	COL5A1	K	866	N	K866N	Likely benign	0	1	9	18
MUT:COL5A1:Met1011Ile	PROT:P20908	COL5A1	M	1011	I	M1011I	Benign	0	1	9	127
MUT:COL5A1:Met1011Val	PROT:P20908	COL5A1	M	1011	V	M1011V	Benign	0	1	9	127
MUT:COL5A1:Met1837Thr	PROT:P20908	COL5A1	M	1837	T	M1837T	Benign	0	1	9	151
MUT:COL5A1:Met1Arg	PROT:P20908	COL5A1	M	1	R	M1R	Pathogenic	1	1	9	78
MUT:COL5A1:Met1Ile	PROT:P20908	COL5A1	M	1	I	M1I	Pathogenic	1	1	9	78
MUT:COL5A1:Met1Val	PROT:P20908	COL5A1	M	1	V	M1V	Pathogenic	1	1	9	78
MUT:COL5A1:Met320Val	PROT:P20908	COL5A1	M	320	V	M320V	Likely benign	0	1	9	198
MUT:COL5A1:Met564Lys	PROT:P20908	COL5A1	M	564	K	M564K	Benign	0	1	9	3
MUT:COL5A1:Met755Arg	PROT:P20908	COL5A1	M	755	R	M755R	Benign	0	1	9	129
MUT:COL5A1:Pro1079His	PROT:P20908	COL5A1	P	1079	H	P1079H	Likely benign	0	1	9	195
MUT:COL5A1:Pro1100Leu	PROT:P20908	COL5A1	P	1100	L	P1100L	Likely benign	0	3	9	216
MUT:COL5A1:Pro1112Leu	PROT:P20908	COL5A1	P	1112	L	P1112L	Benign	0	1	9	228
MUT:COL5A1:Pro1127Ser	PROT:P20908	COL5A1	P	1127	S	P1127S	Benign	0	1	9	243
MUT:COL5A1:Pro1148Ser	PROT:P20908	COL5A1	P	1148	S	P1148S	Likely benign	0	1	9	243
MUT:COL5A1:Pro1152Ala	PROT:P20908	COL5A1	P	1152	A	P1152A	Benign	0	1	9	239
MUT:COL5A1:Pro1152Ser	PROT:P20908	COL5A1	P	1152	S	P1152S	Benign	0	1	9	239
MUT:COL5A1:Pro1179Ala	PROT:P20908	COL5A1	P	1179	A	P1179A	Benign	0	1	9	212
MUT:COL5A1:Pro1179Ser	PROT:P20908	COL5A1	P	1179	S	P1179S	Benign	0	1	9	212
MUT:COL5A1:Pro1200Leu	PROT:P20908	COL5A1	P	1200	L	P1200L	Benign/Likely benign	0	2	9	191
MUT:COL5A1:Pro1251Leu	PROT:P20908	COL5A1	P	1251	L	P1251L	Likely benign	0	1	9	140
MUT:COL5A1:Pro1287Thr	PROT:P20908	COL5A1	P	1287	T	P1287T	Benign	0	1	9	104
MUT:COL5A1:Pro1322Thr	PROT:P20908	COL5A1	P	1322	T	P1322T	Benign	0	1	9	69
MUT:COL5A1:Pro1323Ser	PROT:P20908	COL5A1	P	1323	S	P1323S	Likely benign	0	1	9	68
MUT:COL5A1:Pro1347Thr	PROT:P20908	COL5A1	P	1347	T	P1347T	Benign	0	1	9	44
MUT:COL5A1:Pro1349Thr	PROT:P20908	COL5A1	P	1349	T	P1349T	Likely benign	0	1	9	42
MUT:COL5A1:Pro1353Leu	PROT:P20908	COL5A1	P	1353	L	P1353L	Likely benign	0	1	9	38
MUT:COL5A1:Pro1361Thr	PROT:P20908	COL5A1	P	1361	T	P1361T	Likely benign	0	1	9	30
MUT:COL5A1:Pro1379Ser	PROT:P20908	COL5A1	P	1379	S	P1379S	Benign/Likely benign	0	4	9	12
MUT:COL5A1:Pro1397Arg	PROT:P20908	COL5A1	P	1397	R	P1397R	Benign	0	1	9	6
MUT:COL5A1:Pro1460Ser	PROT:P20908	COL5A1	P	1460	S	P1460S	Benign	0	1	9	69
MUT:COL5A1:Pro1470Leu	PROT:P20908	COL5A1	P	1470	L	P1470L	Benign	0	1	9	79
MUT:COL5A1:Pro1493Leu	PROT:P20908	COL5A1	P	1493	L	P1493L	Likely benign	0	1	9	102
MUT:COL5A1:Pro1508Leu	PROT:P20908	COL5A1	P	1508	L	P1508L	Benign	0	1	9	117
MUT:COL5A1:Pro1508Ser	PROT:P20908	COL5A1	P	1508	S	P1508S	Likely benign	0	1	9	117
MUT:COL5A1:Pro1529Ser	PROT:P20908	COL5A1	P	1529	S	P1529S	Likely benign	0	1	9	138
MUT:COL5A1:Pro1541Leu	PROT:P20908	COL5A1	P	1541	L	P1541L	Likely benign	0	1	9	145
MUT:COL5A1:Pro1565Ser	PROT:P20908	COL5A1	P	1565	S	P1565S	Benign	0	1	9	121
MUT:COL5A1:Pro1647Ser	PROT:P20908	COL5A1	P	1647	S	P1647S	Benign	0	1	9	39
MUT:COL5A1:Pro1700Ala	PROT:P20908	COL5A1	P	1700	A	P1700A	Likely benign	0	1	9	14
MUT:COL5A1:Pro21Ser	PROT:P20908	COL5A1	P	21	S	P21S	Benign/Likely benign	0	6	9	58
MUT:COL5A1:Pro278Thr	PROT:P20908	COL5A1	P	278	T	P278T	Benign	0	1	9	199
MUT:COL5A1:Pro391Leu	PROT:P20908	COL5A1	P	391	L	P391L	Benign	0	1	9	127
MUT:COL5A1:Pro419Arg	PROT:P20908	COL5A1	P	419	R	P419R	Benign	0	1	9	99
MUT:COL5A1:Pro470Leu	PROT:P20908	COL5A1	P	470	L	P470L	Likely benign	0	1	9	48
MUT:COL5A1:Pro473Leu	PROT:P20908	COL5A1	P	473	L	P473L	Benign	0	1	9	45
MUT:COL5A1:Pro500Leu	PROT:P20908	COL5A1	P	500	L	P500L	Benign	0	1	9	18
MUT:COL5A1:Pro599Leu	PROT:P20908	COL5A1	P	599	L	P599L	Likely benign	0	1	9	15
MUT:COL5A1:Pro654Ser	PROT:P20908	COL5A1	P	654	S	P654S	Likely benign	0	1	9	30
MUT:COL5A1:Pro657Gln	PROT:P20908	COL5A1	P	657	Q	P657Q	Benign/Likely benign	0	2	9	33
MUT:COL5A1:Pro707Thr	PROT:P20908	COL5A1	P	707	T	P707T	Benign	0	1	9	83
MUT:COL5A1:Pro720Leu	PROT:P20908	COL5A1	P	720	L	P720L	Likely benign	0	1	9	96
MUT:COL5A1:Pro741Leu	PROT:P20908	COL5A1	P	741	L	P741L	Benign	0	1	9	117
MUT:COL5A1:Pro761Leu	PROT:P20908	COL5A1	P	761	L	P761L	Likely benign	0	1	9	123
MUT:COL5A1:Pro855His	PROT:P20908	COL5A1	P	855	H	P855H	Likely benign	0	1	9	29
MUT:COL5A1:Pro857Ser	PROT:P20908	COL5A1	P	857	S	P857S	Benign	0	1	9	27
MUT:COL5A1:Pro86Arg	PROT:P20908	COL5A1	P	86	R	P86R	Benign	0	1	9	7
MUT:COL5A1:Pro876Thr	PROT:P20908	COL5A1	P	876	T	P876T	Likely benign	0	1	9	8
MUT:COL5A1:Pro944Leu	PROT:P20908	COL5A1	P	944	L	P944L	Benign	0	1	9	60
MUT:COL5A1:Pro960Leu	PROT:P20908	COL5A1	P	960	L	P960L	Likely benign	0	1	9	76
MUT:COL5A1:Pro992Leu	PROT:P20908	COL5A1	P	992	L	P992L	Likely benign	0	1	9	108
MUT:COL5A1:Pro996Ser	PROT:P20908	COL5A1	P	996	S	P996S	Benign	0	1	9	112
MUT:COL5A1:Ser135Phe	PROT:P20908	COL5A1	S	135	F	S135F	Likely benign	0	1	9	56
MUT:COL5A1:Ser1678Trp	PROT:P20908	COL5A1	S	1678	W	S1678W	Likely benign	0	1	9	8
MUT:COL5A1:Ser1769Phe	PROT:P20908	COL5A1	S	1769	F	S1769F	Likely benign	0	1	9	83
MUT:COL5A1:Ser254Leu	PROT:P20908	COL5A1	S	254	L	S254L	Benign/Likely benign	0	5	9	175
MUT:COL5A1:Ser343Thr	PROT:P20908	COL5A1	S	343	T	S343T	Benign	0	1	9	175
MUT:COL5A1:Ser350Leu	PROT:P20908	COL5A1	S	350	L	S350L	Benign	0	1	9	168
MUT:COL5A1:Ser386Phe	PROT:P20908	COL5A1	S	386	F	S386F	Likely benign	0	3	9	132
MUT:COL5A1:Ser428Leu	PROT:P20908	COL5A1	S	428	L	S428L	Benign/Likely benign	0	3	9	90
MUT:COL5A1:Ser544Phe	PROT:P20908	COL5A1	S	544	F	S544F	Likely benign	0	1	9	4
MUT:COL5A1:Ser578Asn	PROT:P20908	COL5A1	S	578	N	S578N	Benign	0	1	9	11
MUT:COL5A1:Thr105Asn	PROT:P20908	COL5A1	T	105	N	T105N	Likely benign	0	1	9	26
MUT:COL5A1:Thr144Lys	PROT:P20908	COL5A1	T	144	K	T144K	Likely benign	0	1	9	65
MUT:COL5A1:Thr144Met	PROT:P20908	COL5A1	T	144	M	T144M	Benign/Likely benign	0	2	9	65
MUT:COL5A1:Thr1757Met	PROT:P20908	COL5A1	T	1757	M	T1757M	Benign/Likely benign	0	5	9	71
MUT:COL5A1:Thr209Ile	PROT:P20908	COL5A1	T	209	I	T209I	Benign	0	1	9	130
MUT:COL5A1:Thr291Asn	PROT:P20908	COL5A1	T	291	N	T291N	Likely benign	0	1	9	212
MUT:COL5A1:Thr356Ile	PROT:P20908	COL5A1	T	356	I	T356I	Likely benign	0	1	9	162
MUT:COL5A1:Thr368Pro	PROT:P20908	COL5A1	T	368	P	T368P	Benign	0	1	9	150
MUT:COL5A1:Thr624Ile	PROT:P20908	COL5A1	T	624	I	T624I	Benign	0	1	9	0
MUT:COL5A1:Thr699Met	PROT:P20908	COL5A1	T	699	M	T699M	Likely benign	0	5	9	75
MUT:COL5A1:Thr78Ile	PROT:P20908	COL5A1	T	78	I	T78I	Benign/Likely benign	0	3	9	1
MUT:COL5A1:Trp29Gly	PROT:P20908	COL5A1	W	29	G	W29G	Benign	0	1	9	50
MUT:COL5A1:Tyr152Cys	PROT:P20908	COL5A1	Y	152	C	Y152C	Likely benign	0	1	9	73
MUT:COL5A1:Val106Met	PROT:P20908	COL5A1	V	106	M	V106M	Likely benign	0	1	9	27
MUT:COL5A1:Val1245Met	PROT:P20908	COL5A1	V	1245	M	V1245M	Likely benign	0	1	9	146
MUT:COL5A1:Val1281Leu	PROT:P20908	COL5A1	V	1281	L	V1281L	Benign	0	1	9	110
MUT:COL5A1:Val1572Ile	PROT:P20908	COL5A1	V	1572	I	V1572I	Benign	0	1	9	114
MUT:COL5A1:Val1681Ile	PROT:P20908	COL5A1	V	1681	I	V1681I	Benign	0	1	9	5
MUT:COL5A1:Val172Asp	PROT:P20908	COL5A1	V	172	D	V172D	Likely pathogenic	1	2	9	93
MUT:COL5A1:Val172Ile	PROT:P20908	COL5A1	V	172	I	V172I	Likely benign	0	3	9	93
MUT:COL5A1:Val1810Leu	PROT:P20908	COL5A1	V	1810	L	V1810L	Benign	0	1	9	124
MUT:COL5A1:Val216Leu	PROT:P20908	COL5A1	V	216	L	V216L	Benign	0	1	9	137
MUT:COL5A1:Val297Met	PROT:P20908	COL5A1	V	297	M	V297M	Benign	0	1	9	218
MUT:COL5A1:Val588Gly	PROT:P20908	COL5A1	V	588	G	V588G	Benign	0	1	9	21
MUT:COL6A1:Ala112Ser	PROT:P12109	COL6A1	A	112	S	A112S	Benign	0	1	13	4
MUT:COL6A1:Ala112Val	PROT:P12109	COL6A1	A	112	V	A112V	Benign	0	1	13	4
MUT:COL6A1:Ala175Val	PROT:P12109	COL6A1	A	175	V	A175V	Benign	0	1	13	26
MUT:COL6A1:Ala215Val	PROT:P12109	COL6A1	A	215	V	A215V	Likely benign	0	1	13	14
MUT:COL6A1:Ala255Pro	PROT:P12109	COL6A1	A	255	P	A255P	Benign	0	1	13	46
MUT:COL6A1:Ala492Val	PROT:P12109	COL6A1	A	492	V	A492V	Benign/Likely benign	0	2	13	6
MUT:COL6A1:Ala533Thr	PROT:P12109	COL6A1	A	533	T	A533T	Likely benign	0	1	13	35
MUT:COL6A1:Ala660Glu	PROT:P12109	COL6A1	A	660	E	A660E	Likely benign	0	1	13	28
MUT:COL6A1:Ala660Thr	PROT:P12109	COL6A1	A	660	T	A660T	Likely benign	0	1	13	28
MUT:COL6A1:Ala868Thr	PROT:P12109	COL6A1	A	868	T	A868T	Likely benign	0	1	13	102
MUT:COL6A1:Ala88Thr	PROT:P12109	COL6A1	A	88	T	A88T	Likely benign	0	1	13	28
MUT:COL6A1:Ala997Ser	PROT:P12109	COL6A1	A	997	S	A997S	Likely benign	0	1	13	11
MUT:COL6A1:Arg105His	PROT:P12109	COL6A1	R	105	H	R105H	Likely benign	0	1	13	11
MUT:COL6A1:Arg105Leu	PROT:P12109	COL6A1	R	105	L	R105L	Benign	0	1	13	11
MUT:COL6A1:Arg211Gly	PROT:P12109	COL6A1	R	211	G	R211G	Likely benign	0	1	13	10
MUT:COL6A1:Arg211His	PROT:P12109	COL6A1	R	211	H	R211H	Likely benign	0	1	13	10
MUT:COL6A1:Arg262Gly	PROT:P12109	COL6A1	R	262	G	R262G	Likely benign	0	1	13	39
MUT:COL6A1:Arg307Cys	PROT:P12109	COL6A1	R	307	C	R307C	Likely benign	0	1	13	6
MUT:COL6A1:Arg325Cys	PROT:P12109	COL6A1	R	325	C	R325C	Likely benign	0	1	13	23
MUT:COL6A1:Arg325Gly	PROT:P12109	COL6A1	R	325	G	R325G	Likely benign	0	1	13	23
MUT:COL6A1:Arg439Gln	PROT:P12109	COL6A1	R	439	Q	R439Q	Benign	0	2	13	38
MUT:COL6A1:Arg456Gly	PROT:P12109	COL6A1	R	456	G	R456G	Likely benign	0	2	13	21
MUT:COL6A1:Arg783Gln	PROT:P12109	COL6A1	R	783	Q	R783Q	Benign/Likely benign	0	2	13	17
MUT:COL6A1:Arg783Trp	PROT:P12109	COL6A1	R	783	W	R783W	Benign	0	1	13	17
MUT:COL6A1:Arg79His	PROT:P12109	COL6A1	R	79	H	R79H	Benign	0	1	13	37
MUT:COL6A1:Arg850Cys	PROT:P12109	COL6A1	R	850	C	R850C	Benign	0	1	13	84
MUT:COL6A1:Arg850His	PROT:P12109	COL6A1	R	850	H	R850H	Benign	0	3	13	84
MUT:COL6A1:Arg850Ser	PROT:P12109	COL6A1	R	850	S	R850S	Benign/Likely benign	0	2	13	84
MUT:COL6A1:Arg885His	PROT:P12109	COL6A1	R	885	H	R885H	Benign	0	1	13	119
MUT:COL6A1:Arg888Pro	PROT:P12109	COL6A1	R	888	P	R888P	Benign	0	1	13	120
MUT:COL6A1:Arg925Cys	PROT:P12109	COL6A1	R	925	C	R925C	Benign	0	1	13	83
MUT:COL6A1:Arg928Cys	PROT:P12109	COL6A1	R	928	C	R928C	Benign	0	1	13	80
MUT:COL6A1:Arg928His	PROT:P12109	COL6A1	R	928	H	R928H	Benign/Likely benign	0	3	13	80
MUT:COL6A1:Arg976His	PROT:P12109	COL6A1	R	976	H	R976H	Likely benign	0	1	13	32
MUT:COL6A1:Asn242Asp	PROT:P12109	COL6A1	N	242	D	N242D	Likely benign	0	1	13	41
MUT:COL6A1:Asn792Ser	PROT:P12109	COL6A1	N	792	S	N792S	Likely benign	0	1	13	26
MUT:COL6A1:Asn911Asp	PROT:P12109	COL6A1	N	911	D	N911D	Benign	0	1	13	97
MUT:COL6A1:Asn946Ser	PROT:P12109	COL6A1	N	946	S	N946S	Benign	0	1	13	62
MUT:COL6A1:Asp158Asn	PROT:P12109	COL6A1	D	158	N	D158N	Likely benign	0	1	13	37
MUT:COL6A1:Asp217Val	PROT:P12109	COL6A1	D	217	V	D217V	Benign	0	1	13	16
MUT:COL6A1:Asp233Asn	PROT:P12109	COL6A1	D	233	N	D233N	Likely benign	0	1	13	32
MUT:COL6A1:Asp237His	PROT:P12109	COL6A1	D	237	H	D237H	Likely benign	0	1	13	36
MUT:COL6A1:Asp444Asn	PROT:P12109	COL6A1	D	444	N	D444N	Benign	0	1	13	33
MUT:COL6A1:Asp548Asn	PROT:P12109	COL6A1	D	548	N	D548N	Benign	0	1	13	20
MUT:COL6A1:Asp615Asn	PROT:P12109	COL6A1	D	615	N	D615N	Likely benign	0	1	13	47
MUT:COL6A1:Asp817Gly	PROT:P12109	COL6A1	D	817	G	D817G	Likely benign	0	1	13	51
MUT:COL6A1:Asp870Asn	PROT:P12109	COL6A1	D	870	N	D870N	Benign	0	1	13	104
MUT:COL6A1:Cys34Phe	PROT:P12109	COL6A1	C	34	F	C34F	Likely benign	0	1	13	82
MUT:COL6A1:Gln101Arg	PROT:P12109	COL6A1	Q	101	R	Q101R	Likely benign	0	1	13	15
MUT:COL6A1:Gln808His	PROT:P12109	COL6A1	Q	808	H	Q808H	Benign/Likely benign	0	2	13	42
MUT:COL6A1:Glu173Lys	PROT:P12109	COL6A1	E	173	K	E173K	Benign	0	1	13	28
MUT:COL6A1:Glu22Lys	PROT:P12109	COL6A1	E	22	K	E22K	Likely benign	0	1	13	94
MUT:COL6A1:Glu279Gly	PROT:P12109	COL6A1	E	279	G	E279G	Benign	0	1	13	22
MUT:COL6A1:Glu549Lys	PROT:P12109	COL6A1	E	549	K	E549K	Likely benign	0	1	13	19
MUT:COL6A1:Glu577Ala	PROT:P12109	COL6A1	E	577	A	E577A	Benign	0	1	13	9
MUT:COL6A1:Glu632Lys	PROT:P12109	COL6A1	E	632	K	E632K	Benign	0	1	13	56
MUT:COL6A1:Glu649Lys	PROT:P12109	COL6A1	E	649	K	E649K	Benign/Likely benign	0	1	13	39
MUT:COL6A1:Glu798Asp	PROT:P12109	COL6A1	E	798	D	E798D	Benign	0	1	13	32
MUT:COL6A1:Glu887Lys	PROT:P12109	COL6A1	E	887	K	E887K	Benign	0	1	13	121
MUT:COL6A1:Glu956Lys	PROT:P12109	COL6A1	E	956	K	E956K	Benign/Likely benign	0	3	13	52
MUT:COL6A1:Glu96Lys	PROT:P12109	COL6A1	E	96	K	E96K	Likely benign	0	1	13	20
MUT:COL6A1:Glu993Lys	PROT:P12109	COL6A1	E	993	K	E993K	Likely benign	0	1	13	15
MUT:COL6A1:Gly263Cys	PROT:P12109	COL6A1	G	263	C	G263C	Likely pathogenic	1	1	13	38
MUT:COL6A1:Gly263Ser	PROT:P12109	COL6A1	G	263	S	G263S	Likely pathogenic	1	1	13	38
MUT:COL6A1:Gly263Val	PROT:P12109	COL6A1	G	263	V	G263V	Pathogenic/Likely pathogenic	1	2	13	38
MUT:COL6A1:Gly269Glu	PROT:P12109	COL6A1	G	269	E	G269E	Pathogenic	1	1	13	32
MUT:COL6A1:Gly272Arg	PROT:P12109	COL6A1	G	272	R	G272R	Pathogenic	1	1	13	29
MUT:COL6A1:Gly272Asp	PROT:P12109	COL6A1	G	272	D	G272D	Pathogenic	1	1	13	29
MUT:COL6A1:Gly275Arg	PROT:P12109	COL6A1	G	275	R	G275R	Likely pathogenic	1	1	13	26
MUT:COL6A1:Gly275Glu	PROT:P12109	COL6A1	G	275	E	G275E	Pathogenic/Likely pathogenic	1	2	13	26
MUT:COL6A1:Gly275Trp	PROT:P12109	COL6A1	G	275	W	G275W	Pathogenic	1	1	13	26
MUT:COL6A1:Gly275Val	PROT:P12109	COL6A1	G	275	V	G275V	Pathogenic/Likely pathogenic	1	1	13	26
MUT:COL6A1:Gly278Glu	PROT:P12109	COL6A1	G	278	E	G278E	Pathogenic/Likely pathogenic	1	1	13	23
MUT:COL6A1:Gly278Val	PROT:P12109	COL6A1	G	278	V	G278V	Pathogenic	1	1	13	23
MUT:COL6A1:Gly281Arg	PROT:P12109	COL6A1	G	281	R	G281R	Pathogenic	1	3	13	20
MUT:COL6A1:Gly281Glu	PROT:P12109	COL6A1	G	281	E	G281E	Pathogenic/Likely pathogenic	1	1	13	20
MUT:COL6A1:Gly284Arg	PROT:P12109	COL6A1	G	284	R	G284R	Pathogenic/Likely pathogenic	1	4	13	17
MUT:COL6A1:Gly287Arg	PROT:P12109	COL6A1	G	287	R	G287R	Pathogenic/Likely pathogenic	1	1	13	14
MUT:COL6A1:Gly290Arg	PROT:P12109	COL6A1	G	290	R	G290R	Pathogenic	1	4	13	11
MUT:COL6A1:Gly290Glu	PROT:P12109	COL6A1	G	290	E	G290E	Pathogenic	1	1	13	11
MUT:COL6A1:Gly290Trp	PROT:P12109	COL6A1	G	290	W	G290W	Pathogenic	1	1	13	11
MUT:COL6A1:Gly293Arg	PROT:P12109	COL6A1	G	293	R	G293R	Pathogenic/Likely pathogenic	1	2	13	8
MUT:COL6A1:Gly293Glu	PROT:P12109	COL6A1	G	293	E	G293E	Pathogenic	1	1	13	8
MUT:COL6A1:Gly293Val	PROT:P12109	COL6A1	G	293	V	G293V	Pathogenic	1	1	13	8
MUT:COL6A1:Gly296Arg	PROT:P12109	COL6A1	G	296	R	G296R	Pathogenic	1	1	13	5
MUT:COL6A1:Gly296Glu	PROT:P12109	COL6A1	G	296	E	G296E	Pathogenic/Likely pathogenic	1	1	13	5
MUT:COL6A1:Gly296Val	PROT:P12109	COL6A1	G	296	V	G296V	Pathogenic/Likely pathogenic	1	2	13	5
MUT:COL6A1:Gly299Arg	PROT:P12109	COL6A1	G	299	R	G299R	Pathogenic	1	1	13	2
MUT:COL6A1:Gly299Glu	PROT:P12109	COL6A1	G	299	E	G299E	Pathogenic/Likely pathogenic	1	1	13	2
MUT:COL6A1:Gly302Arg	PROT:P12109	COL6A1	G	302	R	G302R	Pathogenic	1	2	13	1
MUT:COL6A1:Gly302Glu	PROT:P12109	COL6A1	G	302	E	G302E	Pathogenic	1	1	13	1
MUT:COL6A1:Gly305Arg	PROT:P12109	COL6A1	G	305	R	G305R	Likely pathogenic	1	1	13	4
MUT:COL6A1:Gly305Glu	PROT:P12109	COL6A1	G	305	E	G305E	Pathogenic/Likely pathogenic	1	1	13	4
MUT:COL6A1:Gly311Asp	PROT:P12109	COL6A1	G	311	D	G311D	Pathogenic/Likely pathogenic	1	1	13	10
MUT:COL6A1:Gly311Cys	PROT:P12109	COL6A1	G	311	C	G311C	Pathogenic	1	1	13	10
MUT:COL6A1:Gly329Arg	PROT:P12109	COL6A1	G	329	R	G329R	Likely benign	0	2	13	19
MUT:COL6A1:Gly332Ser	PROT:P12109	COL6A1	G	332	S	G332S	Likely benign	0	1	13	16
MUT:COL6A1:Gly341Asp	PROT:P12109	COL6A1	G	341	D	G341D	Pathogenic	1	1	13	7
MUT:COL6A1:Gly341Cys	PROT:P12109	COL6A1	G	341	C	G341C	Pathogenic	1	1	13	7
MUT:COL6A1:Gly341Val	PROT:P12109	COL6A1	G	341	V	G341V	Pathogenic	1	2	13	7
MUT:COL6A1:Gly371Arg	PROT:P12109	COL6A1	G	371	R	G371R	Likely pathogenic	1	1	13	23
MUT:COL6A1:Gly371Glu	PROT:P12109	COL6A1	G	371	E	G371E	Likely pathogenic	1	1	13	23
MUT:COL6A1:Gly380Arg	PROT:P12109	COL6A1	G	380	R	G380R	Pathogenic/Likely pathogenic	1	2	13	32
MUT:COL6A1:Gly526Val	PROT:P12109	COL6A1	G	526	V	G526V	Pathogenic	1	1	13	40
MUT:COL6A1:Gly700Ser	PROT:P12109	COL6A1	G	700	S	G700S	Benign	0	1	13	12
MUT:COL6A1:Gly748Ser	PROT:P12109	COL6A1	G	748	S	G748S	Benign	0	1	13	2
MUT:COL6A1:Gly785Ser	PROT:P12109	COL6A1	G	785	S	G785S	Benign	0	1	13	19
MUT:COL6A1:Gly880Arg	PROT:P12109	COL6A1	G	880	R	G880R	Likely benign	0	1	13	114
MUT:COL6A1:Gly999Ser	PROT:P12109	COL6A1	G	999	S	G999S	Likely benign	0	1	13	9
MUT:COL6A1:His673Gln	PROT:P12109	COL6A1	H	673	Q	H673Q	Likely benign	0	2	13	15
MUT:COL6A1:Ile472Leu	PROT:P12109	COL6A1	I	472	L	I472L	Likely benign	0	1	13	5
MUT:COL6A1:Ile614Val	PROT:P12109	COL6A1	I	614	V	I614V	Likely benign	0	1	13	46
MUT:COL6A1:Ile626Thr	PROT:P12109	COL6A1	I	626	T	I626T	Likely benign	0	1	13	58
MUT:COL6A1:Ile681Thr	PROT:P12109	COL6A1	I	681	T	I681T	Benign	0	2	13	7
MUT:COL6A1:Ile749Val	PROT:P12109	COL6A1	I	749	V	I749V	Benign	0	1	13	3
MUT:COL6A1:Ile983Val	PROT:P12109	COL6A1	I	983	V	I983V	Benign	0	1	13	25
MUT:COL6A1:Lys114Glu	PROT:P12109	COL6A1	K	114	E	K114E	Benign	0	1	13	2
MUT:COL6A1:Lys121Arg	PROT:P12109	COL6A1	K	121	R	K121R	Pathogenic	1	1	13	0
MUT:COL6A1:Lys346Arg	PROT:P12109	COL6A1	K	346	R	K346R	Likely benign	0	1	13	2
MUT:COL6A1:Lys814Arg	PROT:P12109	COL6A1	K	814	R	K814R	Benign/Likely benign	0	15	13	48
MUT:COL6A1:Met337Ile	PROT:P12109	COL6A1	M	337	I	M337I	Likely benign	0	1	13	11
MUT:COL6A1:Met670Thr	PROT:P12109	COL6A1	M	670	T	M670T	Likely benign	0	1	13	18
MUT:COL6A1:Pro107Leu	PROT:P12109	COL6A1	P	107	L	P107L	Likely benign	0	1	13	9
MUT:COL6A1:Pro274Arg	PROT:P12109	COL6A1	P	274	R	P274R	Likely benign	0	1	13	27
MUT:COL6A1:Pro397Leu	PROT:P12109	COL6A1	P	397	L	P397L	Benign	0	1	13	49
MUT:COL6A1:Pro495Ser	PROT:P12109	COL6A1	P	495	S	P495S	Likely pathogenic	1	1	13	9
MUT:COL6A1:Pro513Ser	PROT:P12109	COL6A1	P	513	S	P513S	Likely benign	0	1	13	27
MUT:COL6A1:Pro591Leu	PROT:P12109	COL6A1	P	591	L	P591L	Likely benign	0	1	13	23
MUT:COL6A1:Pro613Ser	PROT:P12109	COL6A1	P	613	S	P613S	Likely benign	0	1	13	45
MUT:COL6A1:Pro779Leu	PROT:P12109	COL6A1	P	779	L	P779L	Benign	0	1	13	13
MUT:COL6A1:Ser1001Asn	PROT:P12109	COL6A1	S	1001	N	S1001N	Likely benign	0	1	13	7
MUT:COL6A1:Ser115Thr	PROT:P12109	COL6A1	S	115	T	S115T	Benign	0	1	13	1
MUT:COL6A1:Ser116Asn	PROT:P12109	COL6A1	S	116	N	S116N	Benign	0	2	13	0
MUT:COL6A1:Ser306Arg	PROT:P12109	COL6A1	S	306	R	S306R	Benign	0	1	13	5
MUT:COL6A1:Ser312Ala	PROT:P12109	COL6A1	S	312	A	S312A	Likely benign	0	1	13	11
MUT:COL6A1:Ser666Arg	PROT:P12109	COL6A1	S	666	R	S666R	Likely benign	0	1	13	22
MUT:COL6A1:Ser780Pro	PROT:P12109	COL6A1	S	780	P	S780P	Likely benign	0	1	13	14
MUT:COL6A1:Ser890Leu	PROT:P12109	COL6A1	S	890	L	S890L	Benign	0	2	13	118
MUT:COL6A1:Ser902Asn	PROT:P12109	COL6A1	S	902	N	S902N	Benign	0	1	13	106
MUT:COL6A1:Ser931Leu	PROT:P12109	COL6A1	S	931	L	S931L	Benign	0	1	13	77
MUT:COL6A1:Ser947Leu	PROT:P12109	COL6A1	S	947	L	S947L	Benign	0	1	13	61
MUT:COL6A1:Thr129Ala	PROT:P12109	COL6A1	T	129	A	T129A	Likely benign	0	1	13	8
MUT:COL6A1:Thr847Ile	PROT:P12109	COL6A1	T	847	I	T847I	Likely benign	0	1	13	81
MUT:COL6A1:Thr881Met	PROT:P12109	COL6A1	T	881	M	T881M	Benign/Likely benign	0	2	13	115
MUT:COL6A1:Thr898Met	PROT:P12109	COL6A1	T	898	M	T898M	Likely benign	0	1	13	110
MUT:COL6A1:Tyr152His	PROT:P12109	COL6A1	Y	152	H	Y152H	Likely benign	0	1	13	31
MUT:COL6A1:Val184Ile	PROT:P12109	COL6A1	V	184	I	V184I	Benign	0	1	13	17
MUT:COL6A1:Val243Met	PROT:P12109	COL6A1	V	243	M	V243M	Benign	0	1	13	42
MUT:COL6A1:Val333Met	PROT:P12109	COL6A1	V	333	M	V333M	Benign/Likely benign	0	3	13	15
MUT:COL6A1:Val36Met	PROT:P12109	COL6A1	V	36	M	V36M	Likely benign	0	1	13	80
MUT:COL6A1:Val638Ile	PROT:P12109	COL6A1	V	638	I	V638I	Benign	0	1	13	50
MUT:COL6A1:Val639Ile	PROT:P12109	COL6A1	V	639	I	V639I	Benign	0	1	13	49
MUT:COL6A1:Val743Leu	PROT:P12109	COL6A1	V	743	L	V743L	Benign	0	1	13	3
MUT:COL6A1:Val973Phe	PROT:P12109	COL6A1	V	973	F	V973F	Likely benign	0	1	13	35
MUT:COL6A3:Ala1298Val	PROT:P12111	COL6A3	A	1298	V	A1298V	Benign	0	1	25	50
MUT:COL6A3:Ala1373Thr	PROT:P12111	COL6A3	A	1373	T	A1373T	Benign/Likely benign	0	2	25	13
MUT:COL6A3:Ala138Val	PROT:P12111	COL6A3	A	138	V	A138V	Likely benign	0	1	25	24
MUT:COL6A3:Ala1560Ser	PROT:P12111	COL6A3	A	1560	S	A1560S	Benign	0	1	25	48
MUT:COL6A3:Ala184Val	PROT:P12111	COL6A3	A	184	V	A184V	Likely benign	0	1	25	22
MUT:COL6A3:Ala189Thr	PROT:P12111	COL6A3	A	189	T	A189T	Likely benign	0	1	25	27
MUT:COL6A3:Ala2018Val	PROT:P12111	COL6A3	A	2018	V	A2018V	Benign/Likely benign	0	2	25	30
MUT:COL6A3:Ala241Thr	PROT:P12111	COL6A3	A	241	T	A241T	Likely benign	0	1	25	79
MUT:COL6A3:Ala2443Val	PROT:P12111	COL6A3	A	2443	V	A2443V	Likely benign	0	1	25	24
MUT:COL6A3:Ala2643Val	PROT:P12111	COL6A3	A	2643	V	A2643V	Benign/Likely benign	0	2	25	2
MUT:COL6A3:Ala2787Ser	PROT:P12111	COL6A3	A	2787	S	A2787S	Likely benign	0	1	25	135
MUT:COL6A3:Ala2935Val	PROT:P12111	COL6A3	A	2935	V	A2935V	Benign/Likely benign	0	2	25	45
MUT:COL6A3:Ala2941Val	PROT:P12111	COL6A3	A	2941	V	A2941V	Benign/Likely benign	0	2	25	39
MUT:COL6A3:Ala2947Thr	PROT:P12111	COL6A3	A	2947	T	A2947T	Benign	0	1	25	33
MUT:COL6A3:Ala2974Thr	PROT:P12111	COL6A3	A	2974	T	A2974T	Likely benign	0	1	25	6
MUT:COL6A3:Ala3012Pro	PROT:P12111	COL6A3	A	3012	P	A3012P	Benign	0	4	25	32
MUT:COL6A3:Ala303Ser	PROT:P12111	COL6A3	A	303	S	A303S	Likely benign	0	1	25	130
MUT:COL6A3:Ala3068Asp	PROT:P12111	COL6A3	A	3068	D	A3068D	Likely benign	0	1	25	11
MUT:COL6A3:Ala308Thr	PROT:P12111	COL6A3	A	308	T	A308T	Likely benign	0	1	25	125
MUT:COL6A3:Ala3163Pro	PROT:P12111	COL6A3	A	3163	P	A3163P	Likely benign	0	1	25	21
MUT:COL6A3:Ala368Val	PROT:P12111	COL6A3	A	368	V	A368V	Likely benign	0	1	25	65
MUT:COL6A3:Ala383Val	PROT:P12111	COL6A3	A	383	V	A383V	Likely benign	0	1	25	50
MUT:COL6A3:Ala511Thr	PROT:P12111	COL6A3	A	511	T	A511T	Likely benign	0	1	25	13
MUT:COL6A3:Ala596Ser	PROT:P12111	COL6A3	A	596	S	A596S	Benign/Likely benign	0	2	25	35
MUT:COL6A3:Ala765Thr	PROT:P12111	COL6A3	A	765	T	A765T	Likely benign	0	1	25	169
MUT:COL6A3:Ala807Thr	PROT:P12111	COL6A3	A	807	T	A807T	Benign	0	2	25	127
MUT:COL6A3:Ala830Ser	PROT:P12111	COL6A3	A	830	S	A830S	Benign	0	2	25	104
MUT:COL6A3:Ala932Pro	PROT:P12111	COL6A3	A	932	P	A932P	Likely benign	0	1	25	2
MUT:COL6A3:Arg1064Gln	PROT:P12111	COL6A3	R	1064	Q	R1064Q	Benign/Likely benign	0	3	25	111
MUT:COL6A3:Arg1157Met	PROT:P12111	COL6A3	R	1157	M	R1157M	Likely benign	0	1	25	68
MUT:COL6A3:Arg1308Trp	PROT:P12111	COL6A3	R	1308	W	R1308W	Benign	0	1	25	40
MUT:COL6A3:Arg1331His	PROT:P12111	COL6A3	R	1331	H	R1331H	Likely benign	0	1	25	17
MUT:COL6A3:Arg1395Trp	PROT:P12111	COL6A3	R	1395	W	R1395W	Benign/Likely benign	0	2	25	35
MUT:COL6A3:Arg1424Cys	PROT:P12111	COL6A3	R	1424	C	R1424C	Likely benign	0	1	25	47
MUT:COL6A3:Arg1464Gln	PROT:P12111	COL6A3	R	1464	Q	R1464Q	Likely benign	0	1	25	7
MUT:COL6A3:Arg1505Cys	PROT:P12111	COL6A3	R	1505	C	R1505C	Likely benign	0	1	25	7
MUT:COL6A3:Arg1576Gln	PROT:P12111	COL6A3	R	1576	Q	R1576Q	Benign	0	2	25	64
MUT:COL6A3:Arg1632Gln	PROT:P12111	COL6A3	R	1632	Q	R1632Q	Benign/Likely benign	0	5	25	22
MUT:COL6A3:Arg1742Trp	PROT:P12111	COL6A3	R	1742	W	R1742W	Likely benign	0	1	25	5
MUT:COL6A3:Arg1915Gln	PROT:P12111	COL6A3	R	1915	Q	R1915Q	Likely benign	0	1	25	132
MUT:COL6A3:Arg2073His	PROT:P12111	COL6A3	R	2073	H	R2073H	Likely benign	0	1	25	25
MUT:COL6A3:Arg2287Trp	PROT:P12111	COL6A3	R	2287	W	R2287W	Benign	0	1	25	114
MUT:COL6A3:Arg2342Gln	PROT:P12111	COL6A3	R	2342	Q	R2342Q	Benign	0	1	25	125
MUT:COL6A3:Arg2444Pro	PROT:P12111	COL6A3	R	2444	P	R2444P	Likely pathogenic	1	1	25	23
MUT:COL6A3:Arg2549Trp	PROT:P12111	COL6A3	R	2549	W	R2549W	Benign/Likely benign	0	3	25	51
MUT:COL6A3:Arg2607Gly	PROT:P12111	COL6A3	R	2607	G	R2607G	Likely benign	0	1	25	34
MUT:COL6A3:Arg2993Gly	PROT:P12111	COL6A3	R	2993	G	R2993G	Likely benign	0	1	25	13
MUT:COL6A3:Arg3011Gly	PROT:P12111	COL6A3	R	3011	G	R3011G	Benign	0	2	25	31
MUT:COL6A3:Arg3043His	PROT:P12111	COL6A3	R	3043	H	R3043H	Benign/Likely benign	0	5	25	36
MUT:COL6A3:Arg3063Lys	PROT:P12111	COL6A3	R	3063	K	R3063K	Likely benign	0	1	25	16
MUT:COL6A3:Arg3067Gly	PROT:P12111	COL6A3	R	3067	G	R3067G	Benign	0	1	25	12
MUT:COL6A3:Arg341Cys	PROT:P12111	COL6A3	R	341	C	R341C	Benign	0	1	25	92
MUT:COL6A3:Arg533His	PROT:P12111	COL6A3	R	533	H	R533H	Benign	0	1	25	7
MUT:COL6A3:Arg544Leu	PROT:P12111	COL6A3	R	544	L	R544L	Benign	0	1	25	4
MUT:COL6A3:Arg544Trp	PROT:P12111	COL6A3	R	544	W	R544W	Likely benign	0	1	25	4
MUT:COL6A3:Arg5Trp	PROT:P12111	COL6A3	R	5	W	R5W	Likely benign	0	1	25	157
MUT:COL6A3:Arg659His	PROT:P12111	COL6A3	R	659	H	R659H	Benign	0	2	25	98
MUT:COL6A3:Arg677His	PROT:P12111	COL6A3	R	677	H	R677H	Benign/Likely benign	0	2	25	116
MUT:COL6A3:Asn1107Ile	PROT:P12111	COL6A3	N	1107	I	N1107I	Likely benign	0	1	25	118
MUT:COL6A3:Asn199His	PROT:P12111	COL6A3	N	199	H	N199H	Likely benign	0	1	25	37
MUT:COL6A3:Asn2438Lys	PROT:P12111	COL6A3	N	2438	K	N2438K	Likely benign	0	1	25	29
MUT:COL6A3:Asn2558Ser	PROT:P12111	COL6A3	N	2558	S	N2558S	Likely benign	0	1	25	60
MUT:COL6A3:Asp1293Glu	PROT:P12111	COL6A3	D	1293	E	D1293E	Benign	0	3	25	55
MUT:COL6A3:Asp1350Asn	PROT:P12111	COL6A3	D	1350	N	D1350N	Likely benign	0	1	25	2
MUT:COL6A3:Asp1354Asn	PROT:P12111	COL6A3	D	1354	N	D1354N	Likely benign	0	1	25	6
MUT:COL6A3:Asp151His	PROT:P12111	COL6A3	D	151	H	D151H	Likely benign	0	1	25	11
MUT:COL6A3:Asp2156His	PROT:P12111	COL6A3	D	2156	H	D2156H	Likely benign	0	1	25	17
MUT:COL6A3:Asp228Gly	PROT:P12111	COL6A3	D	228	G	D228G	Likely benign	0	1	25	66
MUT:COL6A3:Asp2594Asn	PROT:P12111	COL6A3	D	2594	N	D2594N	Likely benign	0	1	25	47
MUT:COL6A3:Asp2654Asn	PROT:P12111	COL6A3	D	2654	N	D2654N	Likely benign	0	1	25	2
MUT:COL6A3:Asp2831His	PROT:P12111	COL6A3	D	2831	H	D2831H	Benign	0	5	25	149
MUT:COL6A3:Asp410Asn	PROT:P12111	COL6A3	D	410	N	D410N	Benign/Likely benign	0	2	25	23
MUT:COL6A3:Asp491His	PROT:P12111	COL6A3	D	491	H	D491H	Benign/Likely benign	0	2	25	33
MUT:COL6A3:Asp563Gly	PROT:P12111	COL6A3	D	563	G	D563G	Benign/Likely benign	0	8	25	2
MUT:COL6A3:Asp639Glu	PROT:P12111	COL6A3	D	639	E	D639E	Likely benign	0	1	25	78
MUT:COL6A3:Cys775Tyr	PROT:P12111	COL6A3	C	775	Y	C775Y	Likely benign	0	1	25	159
MUT:COL6A3:Gln1249His	PROT:P12111	COL6A3	Q	1249	H	Q1249H	Likely benign	0	1	25	24
MUT:COL6A3:Gln1849His	PROT:P12111	COL6A3	Q	1849	H	Q1849H	Benign	0	1	25	66
MUT:COL6A3:Gln424Glu	PROT:P12111	COL6A3	Q	424	E	Q424E	Likely benign	0	1	25	9
MUT:COL6A3:Glu1521Lys	PROT:P12111	COL6A3	E	1521	K	E1521K	Likely benign	0	1	25	9
MUT:COL6A3:Glu178Asp	PROT:P12111	COL6A3	E	178	D	E178D	Likely benign	0	1	25	16
MUT:COL6A3:Glu1899Gly	PROT:P12111	COL6A3	E	1899	G	E1899G	Likely benign	0	1	25	116
MUT:COL6A3:Glu2244Lys	PROT:P12111	COL6A3	E	2244	K	E2244K	Likely benign	0	1	25	71
MUT:COL6A3:Glu270Asp	PROT:P12111	COL6A3	E	270	D	E270D	Likely benign	0	1	25	108
MUT:COL6A3:Glu2999Gly	PROT:P12111	COL6A3	E	2999	G	E2999G	Likely benign	0	1	25	19
MUT:COL6A3:Glu871Gly	PROT:P12111	COL6A3	E	871	G	E871G	Likely benign	0	1	25	63
MUT:COL6A3:Gly152Glu	PROT:P12111	COL6A3	G	152	E	G152E	Likely benign	0	1	25	10
MUT:COL6A3:Gly1679Arg	PROT:P12111	COL6A3	G	1679	R	G1679R	Likely pathogenic	1	1	25	25
MUT:COL6A3:Gly1679Glu	PROT:P12111	COL6A3	G	1679	E	G1679E	Pathogenic/Likely pathogenic	1	2	25	25
MUT:COL6A3:Gly1842Arg	PROT:P12111	COL6A3	G	1842	R	G1842R	Likely pathogenic	1	2	25	59
MUT:COL6A3:Gly19Asp	PROT:P12111	COL6A3	G	19	D	G19D	Likely benign	0	1	25	143
MUT:COL6A3:Gly2053Asp	PROT:P12111	COL6A3	G	2053	D	G2053D	Pathogenic	1	2	25	5
MUT:COL6A3:Gly2053Val	PROT:P12111	COL6A3	G	2053	V	G2053V	Pathogenic	1	1	25	5
MUT:COL6A3:Gly2065Arg	PROT:P12111	COL6A3	G	2065	R	G2065R	Pathogenic/Likely pathogenic	1	1	25	17
MUT:COL6A3:Gly2065Ser	PROT:P12111	COL6A3	G	2065	S	G2065S	Likely pathogenic	1	1	25	17
MUT:COL6A3:Gly2071Asp	PROT:P12111	COL6A3	G	2071	D	G2071D	Pathogenic/Likely pathogenic	1	1	25	23
MUT:COL6A3:Gly2074Asp	PROT:P12111	COL6A3	G	2074	D	G2074D	Pathogenic	1	1	25	26
MUT:COL6A3:Gly2074Cys	PROT:P12111	COL6A3	G	2074	C	G2074C	Likely pathogenic	1	1	25	26
MUT:COL6A3:Gly2074Ser	PROT:P12111	COL6A3	G	2074	S	G2074S	Pathogenic	1	1	25	26
MUT:COL6A3:Gly2077Asp	PROT:P12111	COL6A3	G	2077	D	G2077D	Pathogenic/Likely pathogenic	1	1	25	29
MUT:COL6A3:Gly2077Val	PROT:P12111	COL6A3	G	2077	V	G2077V	Pathogenic	1	1	25	29
MUT:COL6A3:Gly2080Arg	PROT:P12111	COL6A3	G	2080	R	G2080R	Pathogenic/Likely pathogenic	1	1	25	32
MUT:COL6A3:Gly2080Asp	PROT:P12111	COL6A3	G	2080	D	G2080D	Pathogenic	1	1	25	32
MUT:COL6A3:Gly2080Cys	PROT:P12111	COL6A3	G	2080	C	G2080C	Likely pathogenic	1	1	25	32
MUT:COL6A3:Gly2119Arg	PROT:P12111	COL6A3	G	2119	R	G2119R	Likely pathogenic	1	1	25	54
MUT:COL6A3:Gly2285Arg	PROT:P12111	COL6A3	G	2285	R	G2285R	Likely pathogenic	1	1	25	112
MUT:COL6A3:Gly2323Ser	PROT:P12111	COL6A3	G	2323	S	G2323S	Likely pathogenic	1	1	25	144
MUT:COL6A3:Gly254Arg	PROT:P12111	COL6A3	G	254	R	G254R	Likely benign	0	1	25	92
MUT:COL6A3:Gly2716Val	PROT:P12111	COL6A3	G	2716	V	G2716V	Likely benign	0	1	25	64
MUT:COL6A3:Gly3072Arg	PROT:P12111	COL6A3	G	3072	R	G3072R	Likely benign	0	1	25	7
MUT:COL6A3:Gly307Asp	PROT:P12111	COL6A3	G	307	D	G307D	Likely benign	0	1	25	126
MUT:COL6A3:Gly313Arg	PROT:P12111	COL6A3	G	313	R	G313R	Likely benign	0	1	25	120
MUT:COL6A3:Gly365Arg	PROT:P12111	COL6A3	G	365	R	G365R	Likely benign	0	1	25	68
MUT:COL6A3:Gly542Arg	PROT:P12111	COL6A3	G	542	R	G542R	Likely benign	0	1	25	2
MUT:COL6A3:Gly559Asp	PROT:P12111	COL6A3	G	559	D	G559D	Likely benign	0	1	25	2
MUT:COL6A3:His1454Arg	PROT:P12111	COL6A3	H	1454	R	H1454R	Benign	0	1	25	17
MUT:COL6A3:His1817Arg	PROT:P12111	COL6A3	H	1817	R	H1817R	Likely benign	0	1	25	34
MUT:COL6A3:His4Arg	PROT:P12111	COL6A3	H	4	R	H4R	Likely benign	0	1	25	158
MUT:COL6A3:His742Gln	PROT:P12111	COL6A3	H	742	Q	H742Q	Benign	0	1	25	181
MUT:COL6A3:His88Tyr	PROT:P12111	COL6A3	H	88	Y	H88Y	Likely benign	0	1	25	74
MUT:COL6A3:Ile1172Val	PROT:P12111	COL6A3	I	1172	V	I1172V	Likely benign	0	1	25	53
MUT:COL6A3:Ile1181Ser	PROT:P12111	COL6A3	I	1181	S	I1181S	Likely benign	0	1	25	44
MUT:COL6A3:Ile1310Val	PROT:P12111	COL6A3	I	1310	V	I1310V	Likely benign	0	1	25	38
MUT:COL6A3:Ile1332Thr	PROT:P12111	COL6A3	I	1332	T	I1332T	Likely benign	0	1	25	16
MUT:COL6A3:Ile1437Met	PROT:P12111	COL6A3	I	1437	M	I1437M	Likely benign	0	1	25	34
MUT:COL6A3:Ile1468Val	PROT:P12111	COL6A3	I	1468	V	I1468V	Likely benign	0	1	25	3
MUT:COL6A3:Ile1605Val	PROT:P12111	COL6A3	I	1605	V	I1605V	Likely benign	0	1	25	49
MUT:COL6A3:Ile175Val	PROT:P12111	COL6A3	I	175	V	I175V	Benign	0	1	25	13
MUT:COL6A3:Ile209Thr	PROT:P12111	COL6A3	I	209	T	I209T	Likely benign	0	1	25	47
MUT:COL6A3:Ile274Asn	PROT:P12111	COL6A3	I	274	N	I274N	Likely benign	0	1	25	112
MUT:COL6A3:Ile3125Thr	PROT:P12111	COL6A3	I	3125	T	I3125T	Likely benign	0	1	25	17
MUT:COL6A3:Ile40Val	PROT:P12111	COL6A3	I	40	V	I40V	Likely benign	0	1	25	122
MUT:COL6A3:Ile427Val	PROT:P12111	COL6A3	I	427	V	I427V	Likely benign	0	1	25	6
MUT:COL6A3:Ile472Thr	PROT:P12111	COL6A3	I	472	T	I472T	Likely benign	0	1	25	39
MUT:COL6A3:Ile595Met	PROT:P12111	COL6A3	I	595	M	I595M	Likely benign	0	1	25	34
MUT:COL6A3:Ile899Val	PROT:P12111	COL6A3	I	899	V	I899V	Likely benign	0	1	25	35
MUT:COL6A3:Ile908Met	PROT:P12111	COL6A3	I	908	M	I908M	Likely benign	0	1	25	26
MUT:COL6A3:Leu122Ser	PROT:P12111	COL6A3	L	122	S	L122S	Likely benign	0	1	25	40
MUT:COL6A3:Leu1419Phe	PROT:P12111	COL6A3	L	1419	F	L1419F	Likely benign	0	1	25	52
MUT:COL6A3:Leu1592Met	PROT:P12111	COL6A3	L	1592	M	L1592M	Likely benign	0	1	25	62
MUT:COL6A3:Leu1726Arg	PROT:P12111	COL6A3	L	1726	R	L1726R	Pathogenic	1	1	25	11
MUT:COL6A3:Leu2624Val	PROT:P12111	COL6A3	L	2624	V	L2624V	Likely benign	0	1	25	17
MUT:COL6A3:Leu3106Phe	PROT:P12111	COL6A3	L	3106	F	L3106F	Likely benign	0	1	25	27
MUT:COL6A3:Leu326Val	PROT:P12111	COL6A3	L	326	V	L326V	Likely benign	0	1	25	107
MUT:COL6A3:Leu411Val	PROT:P12111	COL6A3	L	411	V	L411V	Benign/Likely benign	0	2	25	22
MUT:COL6A3:Leu552Phe	PROT:P12111	COL6A3	L	552	F	L552F	Likely benign	0	1	25	9
MUT:COL6A3:Lys1088Gln	PROT:P12111	COL6A3	K	1088	Q	K1088Q	Benign	0	2	25	135
MUT:COL6A3:Lys1754Arg	PROT:P12111	COL6A3	K	1754	R	K1754R	Benign/Likely benign	0	7	25	17
MUT:COL6A3:Lys2103Arg	PROT:P12111	COL6A3	K	2103	R	K2103R	Pathogenic	1	1	25	55
MUT:COL6A3:Lys2483Glu	PROT:P12111	COL6A3	K	2483	E	K2483E	Pathogenic/Likely pathogenic	1	6	25	9
MUT:COL6A3:Lys2763Asn	PROT:P12111	COL6A3	K	2763	N	K2763N	Likely benign	0	1	25	111
MUT:COL6A3:Lys3006Arg	PROT:P12111	COL6A3	K	3006	R	K3006R	Benign/Likely benign	0	3	25	26
MUT:COL6A3:Lys3127Arg	PROT:P12111	COL6A3	K	3127	R	K3127R	Likely benign	0	1	25	15
MUT:COL6A3:Lys99Glu	PROT:P12111	COL6A3	K	99	E	K99E	Likely benign	0	1	25	63
MUT:COL6A3:Met2927Thr	PROT:P12111	COL6A3	M	2927	T	M2927T	Benign	0	4	25	53
MUT:COL6A3:Met2988Val	PROT:P12111	COL6A3	M	2988	V	M2988V	Benign	0	2	25	8
MUT:COL6A3:Met3175Leu	PROT:P12111	COL6A3	M	3175	L	M3175L	Likely benign	0	1	25	33
MUT:COL6A3:Met799Val	PROT:P12111	COL6A3	M	799	V	M799V	Likely benign	0	1	25	135
MUT:COL6A3:Phe1362Tyr	PROT:P12111	COL6A3	F	1362	Y	F1362Y	Likely benign	0	1	25	2
MUT:COL6A3:Phe2418Tyr	PROT:P12111	COL6A3	F	2418	Y	F2418Y	Pathogenic	1	1	25	49
MUT:COL6A3:Phe61Ser	PROT:P12111	COL6A3	F	61	S	F61S	Likely benign	0	1	25	101
MUT:COL6A3:Phe683Leu	PROT:P12111	COL6A3	F	683	L	F683L	Likely benign	0	1	25	122
MUT:COL6A3:Pro161Leu	PROT:P12111	COL6A3	P	161	L	P161L	Likely benign	0	1	25	1
MUT:COL6A3:Pro1687Ser	PROT:P12111	COL6A3	P	1687	S	P1687S	Benign/Likely benign	0	2	25	33
MUT:COL6A3:Pro192Arg	PROT:P12111	COL6A3	P	192	R	P192R	Likely benign	0	1	25	30
MUT:COL6A3:Pro2218Leu	PROT:P12111	COL6A3	P	2218	L	P2218L	Benign	0	2	25	45
MUT:COL6A3:Pro2321Gln	PROT:P12111	COL6A3	P	2321	Q	P2321Q	Likely benign	0	1	25	146
MUT:COL6A3:Pro2655Ala	PROT:P12111	COL6A3	P	2655	A	P2655A	Likely benign	0	1	25	3
MUT:COL6A3:Pro2859Leu	PROT:P12111	COL6A3	P	2859	L	P2859L	Likely benign	0	1	25	121
MUT:COL6A3:Pro2882Leu	PROT:P12111	COL6A3	P	2882	L	P2882L	Benign	0	1	25	98
MUT:COL6A3:Pro2912Leu	PROT:P12111	COL6A3	P	2912	L	P2912L	Benign	0	2	25	68
MUT:COL6A3:Pro2914Leu	PROT:P12111	COL6A3	P	2914	L	P2914L	Likely benign	0	1	25	66
MUT:COL6A3:Pro3014Leu	PROT:P12111	COL6A3	P	3014	L	P3014L	Benign	0	1	25	34
MUT:COL6A3:Pro3017Thr	PROT:P12111	COL6A3	P	3017	T	P3017T	Benign	0	1	25	37
MUT:COL6A3:Pro3082Arg	PROT:P12111	COL6A3	P	3082	R	P3082R	Benign/Likely benign	0	4	25	3
MUT:COL6A3:Pro3082Leu	PROT:P12111	COL6A3	P	3082	L	P3082L	Likely benign	0	1	25	3
MUT:COL6A3:Pro417Leu	PROT:P12111	COL6A3	P	417	L	P417L	Likely benign	0	2	25	16
MUT:COL6A3:Pro687Ser	PROT:P12111	COL6A3	P	687	S	P687S	Likely benign	0	1	25	126
MUT:COL6A3:Ser1202Tyr	PROT:P12111	COL6A3	S	1202	Y	S1202Y	Likely benign	0	1	25	23
MUT:COL6A3:Ser1330Thr	PROT:P12111	COL6A3	S	1330	T	S1330T	Likely benign	0	1	25	18
MUT:COL6A3:Ser1344Leu	PROT:P12111	COL6A3	S	1344	L	S1344L	Likely benign	0	1	25	4
MUT:COL6A3:Ser1390Leu	PROT:P12111	COL6A3	S	1390	L	S1390L	Benign/Likely benign	0	2	25	30
MUT:COL6A3:Ser1512Thr	PROT:P12111	COL6A3	S	1512	T	S1512T	Likely benign	0	1	25	0
MUT:COL6A3:Ser1783Leu	PROT:P12111	COL6A3	S	1783	L	S1783L	Likely benign	0	1	25	0
MUT:COL6A3:Ser1870Asn	PROT:P12111	COL6A3	S	1870	N	S1870N	Benign/Likely benign	0	1	25	87
MUT:COL6A3:Ser190Ile	PROT:P12111	COL6A3	S	190	I	S190I	Likely benign	0	1	25	28
MUT:COL6A3:Ser2346Leu	PROT:P12111	COL6A3	S	2346	L	S2346L	Likely benign	0	1	25	121
MUT:COL6A3:Ser2492Leu	PROT:P12111	COL6A3	S	2492	L	S2492L	Benign	0	1	25	0
MUT:COL6A3:Ser2626Asn	PROT:P12111	COL6A3	S	2626	N	S2626N	Likely benign	0	1	25	15
MUT:COL6A3:Ser3136Asn	PROT:P12111	COL6A3	S	3136	N	S3136N	Likely benign	0	1	25	6
MUT:COL6A3:Ser539Thr	PROT:P12111	COL6A3	S	539	T	S539T	Likely benign	0	1	25	1
MUT:COL6A3:Ser576Asn	PROT:P12111	COL6A3	S	576	N	S576N	Likely benign	0	1	25	15
MUT:COL6A3:Thr204Ser	PROT:P12111	COL6A3	T	204	S	T204S	Likely benign	0	1	25	42
MUT:COL6A3:Thr22Ala	PROT:P12111	COL6A3	T	22	A	T22A	Likely benign	0	1	25	140
MUT:COL6A3:Thr2455Ala	PROT:P12111	COL6A3	T	2455	A	T2455A	Likely benign	0	1	25	12
MUT:COL6A3:Thr2802Ser	PROT:P12111	COL6A3	T	2802	S	T2802S	Likely benign	0	1	25	150
MUT:COL6A3:Thr3041Met	PROT:P12111	COL6A3	T	3041	M	T3041M	Likely benign	0	1	25	38
MUT:COL6A3:Thr3069Ile	PROT:P12111	COL6A3	T	3069	I	T3069I	Benign	0	4	25	10
MUT:COL6A3:Thr492Ser	PROT:P12111	COL6A3	T	492	S	T492S	Benign	0	2	25	32
MUT:COL6A3:Thr557Ala	PROT:P12111	COL6A3	T	557	A	T557A	Likely benign	0	1	25	4
MUT:COL6A3:Thr98Ser	PROT:P12111	COL6A3	T	98	S	T98S	Benign/Likely benign	0	2	25	64
MUT:COL6A3:Tyr2063Cys	PROT:P12111	COL6A3	Y	2063	C	Y2063C	Pathogenic	1	1	25	15
MUT:COL6A3:Tyr727Cys	PROT:P12111	COL6A3	Y	727	C	Y727C	Benign	0	1	25	166
MUT:COL6A3:Tyr727His	PROT:P12111	COL6A3	Y	727	H	Y727H	Likely benign	0	1	25	166
MUT:COL6A3:Tyr759Cys	PROT:P12111	COL6A3	Y	759	C	Y759C	Likely benign	0	1	25	175
MUT:COL6A3:Val1030Met	PROT:P12111	COL6A3	V	1030	M	V1030M	Benign/Likely benign	0	3	25	77
MUT:COL6A3:Val1251Phe	PROT:P12111	COL6A3	V	1251	F	V1251F	Likely benign	0	1	25	26
MUT:COL6A3:Val12Ile	PROT:P12111	COL6A3	V	12	I	V12I	Benign/Likely benign	0	2	25	150
MUT:COL6A3:Val1336Ala	PROT:P12111	COL6A3	V	1336	A	V1336A	Likely benign	0	1	25	12
MUT:COL6A3:Val1341Ile	PROT:P12111	COL6A3	V	1341	I	V1341I	Likely benign	0	1	25	7
MUT:COL6A3:Val1364Met	PROT:P12111	COL6A3	V	1364	M	V1364M	Benign/Likely benign	0	1	25	4
MUT:COL6A3:Val1721Ala	PROT:P12111	COL6A3	V	1721	A	V1721A	Likely benign	0	1	25	16
MUT:COL6A3:Val1924Ile	PROT:P12111	COL6A3	V	1924	I	V1924I	Likely benign	0	1	25	124
MUT:COL6A3:Val221Met	PROT:P12111	COL6A3	V	221	M	V221M	Likely benign	0	1	25	59
MUT:COL6A3:Val2820Ile	PROT:P12111	COL6A3	V	2820	I	V2820I	Benign/Likely benign	0	1	25	160
MUT:COL6A3:Val2858Ile	PROT:P12111	COL6A3	V	2858	I	V2858I	Benign/Likely benign	0	2	25	122
MUT:COL6A3:Val342Met	PROT:P12111	COL6A3	V	342	M	V342M	Benign/Likely benign	0	3	25	91
MUT:COL6A3:Val402Leu	PROT:P12111	COL6A3	V	402	L	V402L	Likely benign	0	1	25	31
MUT:COL6A3:Val71Met	PROT:P12111	COL6A3	V	71	M	V71M	Likely benign	0	1	25	91
MUT:COL7A1:Ala106Val	PROT:Q02388	COL7A1	A	106	V	A106V	Likely benign	0	1	9	11
MUT:COL7A1:Ala1225Pro	PROT:Q02388	COL7A1	A	1225	P	A1225P	Likely benign	0	1	9	93
MUT:COL7A1:Ala1313Thr	PROT:Q02388	COL7A1	A	1313	T	A1313T	Likely benign	0	1	9	5
MUT:COL7A1:Ala1503Val	PROT:Q02388	COL7A1	A	1503	V	A1503V	Benign/Likely benign	0	1	9	176
MUT:COL7A1:Ala1562Thr	PROT:Q02388	COL7A1	A	1562	T	A1562T	Likely benign	0	1	9	235
MUT:COL7A1:Ala1864Thr	PROT:Q02388	COL7A1	A	1864	T	A1864T	Benign	0	2	9	537
MUT:COL7A1:Ala72Asp	PROT:Q02388	COL7A1	A	72	D	A72D	Benign	0	1	9	25
MUT:COL7A1:Arg1036Gln	PROT:Q02388	COL7A1	R	1036	Q	R1036Q	Likely benign	0	1	9	208
MUT:COL7A1:Arg1120Lys	PROT:Q02388	COL7A1	R	1120	K	R1120K	Benign/Likely benign	0	4	9	198
MUT:COL7A1:Arg1298Lys	PROT:Q02388	COL7A1	R	1298	K	R1298K	Likely benign	0	3	9	20
MUT:COL7A1:Arg1340Gln	PROT:Q02388	COL7A1	R	1340	Q	R1340Q	Likely benign	0	1	9	13
MUT:COL7A1:Arg1379Cys	PROT:Q02388	COL7A1	R	1379	C	R1379C	Likely benign	0	1	9	52
MUT:COL7A1:Arg1506Gln	PROT:Q02388	COL7A1	R	1506	Q	R1506Q	Benign	0	1	9	179
MUT:COL7A1:Arg1538Cys	PROT:Q02388	COL7A1	R	1538	C	R1538C	Benign/Likely benign	0	2	9	211
MUT:COL7A1:Arg1538His	PROT:Q02388	COL7A1	R	1538	H	R1538H	Benign/Likely benign	0	2	9	211
MUT:COL7A1:Arg1772Trp	PROT:Q02388	COL7A1	R	1772	W	R1772W	Pathogenic/Likely pathogenic	1	2	9	445
MUT:COL7A1:Arg1814Cys	PROT:Q02388	COL7A1	R	1814	C	R1814C	Pathogenic/Likely pathogenic	1	1	9	487
MUT:COL7A1:Arg1933Gln	PROT:Q02388	COL7A1	R	1933	Q	R1933Q	Benign	0	1	9	579
MUT:COL7A1:Arg1957Trp	PROT:Q02388	COL7A1	R	1957	W	R1957W	Pathogenic	1	1	9	555
MUT:COL7A1:Arg2008Cys	PROT:Q02388	COL7A1	R	2008	C	R2008C	Pathogenic/Likely pathogenic	1	2	9	504
MUT:COL7A1:Arg2008Gly	PROT:Q02388	COL7A1	R	2008	G	R2008G	Pathogenic	1	1	9	504
MUT:COL7A1:Arg2008His	PROT:Q02388	COL7A1	R	2008	H	R2008H	Pathogenic/Likely pathogenic	1	2	9	504
MUT:COL7A1:Arg2008Leu	PROT:Q02388	COL7A1	R	2008	L	R2008L	Likely pathogenic	1	1	9	504
MUT:COL7A1:Arg2063Gln	PROT:Q02388	COL7A1	R	2063	Q	R2063Q	Likely benign	0	1	9	449
MUT:COL7A1:Arg2063Gly	PROT:Q02388	COL7A1	R	2063	G	R2063G	Likely pathogenic	1	1	9	449
MUT:COL7A1:Arg2063Trp	PROT:Q02388	COL7A1	R	2063	W	R2063W	Pathogenic	1	2	9	449
MUT:COL7A1:Arg2069Cys	PROT:Q02388	COL7A1	R	2069	C	R2069C	Pathogenic/Likely pathogenic	1	7	9	443
MUT:COL7A1:Arg2424Trp	PROT:Q02388	COL7A1	R	2424	W	R2424W	Pathogenic	1	2	9	88
MUT:COL7A1:Arg2580Cys	PROT:Q02388	COL7A1	R	2580	C	R2580C	Pathogenic/Likely pathogenic	1	2	9	68
MUT:COL7A1:Arg2622Gln	PROT:Q02388	COL7A1	R	2622	Q	R2622Q	Pathogenic/Likely pathogenic	1	1	9	110
MUT:COL7A1:Arg2622Trp	PROT:Q02388	COL7A1	R	2622	W	R2622W	Pathogenic/Likely pathogenic	1	3	9	110
MUT:COL7A1:Arg2628Trp	PROT:Q02388	COL7A1	R	2628	W	R2628W	Pathogenic/Likely pathogenic	1	1	9	116
MUT:COL7A1:Arg2745Gln	PROT:Q02388	COL7A1	R	2745	Q	R2745Q	Likely pathogenic	1	2	9	233
MUT:COL7A1:Arg468His	PROT:Q02388	COL7A1	R	468	H	R468H	Likely benign	0	1	9	60
MUT:COL7A1:Arg523Gln	PROT:Q02388	COL7A1	R	523	Q	R523Q	Likely benign	0	1	9	74
MUT:COL7A1:Arg574Gln	PROT:Q02388	COL7A1	R	574	Q	R574Q	Likely benign	0	1	9	23
MUT:COL7A1:Arg592Cys	PROT:Q02388	COL7A1	R	592	C	R592C	Likely benign	0	1	9	5
MUT:COL7A1:Arg931His	PROT:Q02388	COL7A1	R	931	H	R931H	Likely benign	0	1	9	103
MUT:COL7A1:Arg931Ser	PROT:Q02388	COL7A1	R	931	S	R931S	Benign	0	1	9	103
MUT:COL7A1:Arg951His	PROT:Q02388	COL7A1	R	951	H	R951H	Likely benign	0	1	9	123
MUT:COL7A1:Arg990Trp	PROT:Q02388	COL7A1	R	990	W	R990W	Likely benign	0	1	9	162
MUT:COL7A1:Asp2558Asn	PROT:Q02388	COL7A1	D	2558	N	D2558N	Likely benign	0	1	9	46
MUT:COL7A1:Asp44Asn	PROT:Q02388	COL7A1	D	44	N	D44N	Likely pathogenic	1	1	9	3
MUT:COL7A1:Cys2876Phe	PROT:Q02388	COL7A1	C	2876	F	C2876F	Likely pathogenic	1	1	9	364
MUT:COL7A1:Cys2929Phe	PROT:Q02388	COL7A1	C	2929	F	C2929F	Pathogenic/Likely pathogenic	1	2	9	417
MUT:COL7A1:Cys2929Tyr	PROT:Q02388	COL7A1	C	2929	Y	C2929Y	Pathogenic/Likely pathogenic	1	2	9	417
MUT:COL7A1:Gln1013Leu	PROT:Q02388	COL7A1	Q	1013	L	Q1013L	Likely benign	0	1	9	185
MUT:COL7A1:Gln1092Pro	PROT:Q02388	COL7A1	Q	1092	P	Q1092P	Pathogenic	1	1	9	226
MUT:COL7A1:Gln1924Arg	PROT:Q02388	COL7A1	Q	1924	R	Q1924R	Pathogenic	1	1	9	588
MUT:COL7A1:Gln2300Arg	PROT:Q02388	COL7A1	Q	2300	R	Q2300R	Pathogenic	1	1	9	212
MUT:COL7A1:Glu1297Lys	PROT:Q02388	COL7A1	E	1297	K	E1297K	Benign/Likely benign	0	3	9	21
MUT:COL7A1:Glu2059Gly	PROT:Q02388	COL7A1	E	2059	G	E2059G	Pathogenic/Likely pathogenic	1	1	9	453
MUT:COL7A1:Glu748Lys	PROT:Q02388	COL7A1	E	748	K	E748K	Benign/Likely benign	0	1	9	80
MUT:COL7A1:Gly1284Ser	PROT:Q02388	COL7A1	G	1284	S	G1284S	Pathogenic/Likely pathogenic	1	1	9	34
MUT:COL7A1:Gly1314Arg	PROT:Q02388	COL7A1	G	1314	R	G1314R	Pathogenic/Likely pathogenic	1	1	9	4
MUT:COL7A1:Gly1326Val	PROT:Q02388	COL7A1	G	1326	V	G1326V	Likely pathogenic	1	1	9	1
MUT:COL7A1:Gly1332Asp	PROT:Q02388	COL7A1	G	1332	D	G1332D	Pathogenic	1	1	9	5
MUT:COL7A1:Gly1338Arg	PROT:Q02388	COL7A1	G	1338	R	G1338R	Pathogenic/Likely pathogenic	1	2	9	11
MUT:COL7A1:Gly1347Arg	PROT:Q02388	COL7A1	G	1347	R	G1347R	Pathogenic	1	2	9	20
MUT:COL7A1:Gly1347Trp	PROT:Q02388	COL7A1	G	1347	W	G1347W	Pathogenic/Likely pathogenic	1	2	9	20
MUT:COL7A1:Gly1357Arg	PROT:Q02388	COL7A1	G	1357	R	G1357R	Likely benign	0	1	9	30
MUT:COL7A1:Gly1383Arg	PROT:Q02388	COL7A1	G	1383	R	G1383R	Pathogenic/Likely pathogenic	1	1	9	56
MUT:COL7A1:Gly1400Ser	PROT:Q02388	COL7A1	G	1400	S	G1400S	Pathogenic	1	1	9	73
MUT:COL7A1:Gly1448Asp	PROT:Q02388	COL7A1	G	1448	D	G1448D	Pathogenic	1	1	9	121
MUT:COL7A1:Gly1480Asp	PROT:Q02388	COL7A1	G	1480	D	G1480D	Pathogenic/Likely pathogenic	1	1	9	153
MUT:COL7A1:Gly1483Asp	PROT:Q02388	COL7A1	G	1483	D	G1483D	Pathogenic/Likely pathogenic	1	2	9	156
MUT:COL7A1:Gly1489Asp	PROT:Q02388	COL7A1	G	1489	D	G1489D	Likely pathogenic	1	1	9	162
MUT:COL7A1:Gly1507Val	PROT:Q02388	COL7A1	G	1507	V	G1507V	Likely pathogenic	1	1	9	180
MUT:COL7A1:Gly150Arg	PROT:Q02388	COL7A1	G	150	R	G150R	Pathogenic	1	2	9	33
MUT:COL7A1:Gly1519Asp	PROT:Q02388	COL7A1	G	1519	D	G1519D	Likely pathogenic	1	2	9	192
MUT:COL7A1:Gly1522Glu	PROT:Q02388	COL7A1	G	1522	E	G1522E	Pathogenic	1	1	9	195
MUT:COL7A1:Gly1534Glu	PROT:Q02388	COL7A1	G	1534	E	G1534E	Likely pathogenic	1	1	9	207
MUT:COL7A1:Gly1569Arg	PROT:Q02388	COL7A1	G	1569	R	G1569R	Likely pathogenic	1	2	9	242
MUT:COL7A1:Gly1595Arg	PROT:Q02388	COL7A1	G	1595	R	G1595R	Pathogenic	1	2	9	268
MUT:COL7A1:Gly1604Arg	PROT:Q02388	COL7A1	G	1604	R	G1604R	Pathogenic	1	2	9	277
MUT:COL7A1:Gly1604Glu	PROT:Q02388	COL7A1	G	1604	E	G1604E	Pathogenic	1	1	9	277
MUT:COL7A1:Gly1616Arg	PROT:Q02388	COL7A1	G	1616	R	G1616R	Likely pathogenic	1	1	9	289
MUT:COL7A1:Gly1664Arg	PROT:Q02388	COL7A1	G	1664	R	G1664R	Likely pathogenic	1	1	9	337
MUT:COL7A1:Gly1673Arg	PROT:Q02388	COL7A1	G	1673	R	G1673R	Likely pathogenic	1	1	9	346
MUT:COL7A1:Gly1700Val	PROT:Q02388	COL7A1	G	1700	V	G1700V	Likely pathogenic	1	1	9	373
MUT:COL7A1:Gly1703Glu	PROT:Q02388	COL7A1	G	1703	E	G1703E	Pathogenic	1	1	9	376
MUT:COL7A1:Gly174Arg	PROT:Q02388	COL7A1	G	174	R	G174R	Pathogenic/Likely pathogenic	1	2	9	57
MUT:COL7A1:Gly1773Asp	PROT:Q02388	COL7A1	G	1773	D	G1773D	Pathogenic	1	1	9	446
MUT:COL7A1:Gly1773Val	PROT:Q02388	COL7A1	G	1773	V	G1773V	Pathogenic/Likely pathogenic	1	1	9	446
MUT:COL7A1:Gly1776Glu	PROT:Q02388	COL7A1	G	1776	E	G1776E	Pathogenic	1	1	9	449
MUT:COL7A1:Gly1782Arg	PROT:Q02388	COL7A1	G	1782	R	G1782R	Pathogenic	1	2	9	455
MUT:COL7A1:Gly1797Asp	PROT:Q02388	COL7A1	G	1797	D	G1797D	Pathogenic	1	1	9	470
MUT:COL7A1:Gly1803Arg	PROT:Q02388	COL7A1	G	1803	R	G1803R	Pathogenic	1	1	9	476
MUT:COL7A1:Gly1815Arg	PROT:Q02388	COL7A1	G	1815	R	G1815R	Pathogenic	1	3	9	488
MUT:COL7A1:Gly1815Glu	PROT:Q02388	COL7A1	G	1815	E	G1815E	Likely pathogenic	1	2	9	488
MUT:COL7A1:Gly1854Arg	PROT:Q02388	COL7A1	G	1854	R	G1854R	Pathogenic/Likely pathogenic	1	2	9	527
MUT:COL7A1:Gly1907Asp	PROT:Q02388	COL7A1	G	1907	D	G1907D	Pathogenic	1	1	9	580
MUT:COL7A1:Gly1913Val	PROT:Q02388	COL7A1	G	1913	V	G1913V	Likely pathogenic	1	1	9	586
MUT:COL7A1:Gly1919Arg	PROT:Q02388	COL7A1	G	1919	R	G1919R	Pathogenic	1	1	9	592
MUT:COL7A1:Gly1922Glu	PROT:Q02388	COL7A1	G	1922	E	G1922E	Likely pathogenic	1	2	9	590
MUT:COL7A1:Gly1922Val	PROT:Q02388	COL7A1	G	1922	V	G1922V	Likely pathogenic	1	1	9	590
MUT:COL7A1:Gly1928Glu	PROT:Q02388	COL7A1	G	1928	E	G1928E	Likely pathogenic	1	1	9	584
MUT:COL7A1:Gly1982Glu	PROT:Q02388	COL7A1	G	1982	E	G1982E	Likely pathogenic	1	1	9	530
MUT:COL7A1:Gly2003Arg	PROT:Q02388	COL7A1	G	2003	R	G2003R	Pathogenic	1	4	9	509
MUT:COL7A1:Gly2003Glu	PROT:Q02388	COL7A1	G	2003	E	G2003E	Pathogenic	1	1	9	509
MUT:COL7A1:Gly2006Ala	PROT:Q02388	COL7A1	G	2006	A	G2006A	Pathogenic/Likely pathogenic	1	1	9	506
MUT:COL7A1:Gly2006Asp	PROT:Q02388	COL7A1	G	2006	D	G2006D	Likely pathogenic	1	3	9	506
MUT:COL7A1:Gly2006Ser	PROT:Q02388	COL7A1	G	2006	S	G2006S	Pathogenic	1	1	9	506
MUT:COL7A1:Gly2009Arg	PROT:Q02388	COL7A1	G	2009	R	G2009R	Pathogenic	1	1	9	503
MUT:COL7A1:Gly2009Glu	PROT:Q02388	COL7A1	G	2009	E	G2009E	Pathogenic/Likely pathogenic	1	2	9	503
MUT:COL7A1:Gly2009Val	PROT:Q02388	COL7A1	G	2009	V	G2009V	Likely pathogenic	1	1	9	503
MUT:COL7A1:Gly2012Arg	PROT:Q02388	COL7A1	G	2012	R	G2012R	Likely pathogenic	1	1	9	500
MUT:COL7A1:Gly2012Asp	PROT:Q02388	COL7A1	G	2012	D	G2012D	Pathogenic	1	1	9	500
MUT:COL7A1:Gly2012Ser	PROT:Q02388	COL7A1	G	2012	S	G2012S	Pathogenic	1	1	9	500
MUT:COL7A1:Gly2012Val	PROT:Q02388	COL7A1	G	2012	V	G2012V	Likely pathogenic	1	1	9	500
MUT:COL7A1:Gly2015Glu	PROT:Q02388	COL7A1	G	2015	E	G2015E	Pathogenic	1	3	9	497
MUT:COL7A1:Gly2025Asp	PROT:Q02388	COL7A1	G	2025	D	G2025D	Likely pathogenic	1	1	9	487
MUT:COL7A1:Gly2025Ser	PROT:Q02388	COL7A1	G	2025	S	G2025S	Pathogenic	1	1	9	487
MUT:COL7A1:Gly2028Arg	PROT:Q02388	COL7A1	G	2028	R	G2028R	Pathogenic	1	3	9	484
MUT:COL7A1:Gly2034Ala	PROT:Q02388	COL7A1	G	2034	A	G2034A	Pathogenic/Likely pathogenic	1	1	9	478
MUT:COL7A1:Gly2034Arg	PROT:Q02388	COL7A1	G	2034	R	G2034R	Pathogenic	1	3	9	478
MUT:COL7A1:Gly2034Trp	PROT:Q02388	COL7A1	G	2034	W	G2034W	Pathogenic	1	1	9	478
MUT:COL7A1:Gly2037Glu	PROT:Q02388	COL7A1	G	2037	E	G2037E	Pathogenic/Likely pathogenic	1	3	9	475
MUT:COL7A1:Gly2037Val	PROT:Q02388	COL7A1	G	2037	V	G2037V	Pathogenic	1	1	9	475
MUT:COL7A1:Gly2040Asp	PROT:Q02388	COL7A1	G	2040	D	G2040D	Pathogenic	1	2	9	472
MUT:COL7A1:Gly2040Ser	PROT:Q02388	COL7A1	G	2040	S	G2040S	Pathogenic	1	2	9	472
MUT:COL7A1:Gly2043Arg	PROT:Q02388	COL7A1	G	2043	R	G2043R	Pathogenic	1	5	9	469
MUT:COL7A1:Gly2043Glu	PROT:Q02388	COL7A1	G	2043	E	G2043E	Pathogenic/Likely pathogenic	1	1	9	469
MUT:COL7A1:Gly2046Ser	PROT:Q02388	COL7A1	G	2046	S	G2046S	Pathogenic	1	1	9	466
MUT:COL7A1:Gly2049Glu	PROT:Q02388	COL7A1	G	2049	E	G2049E	Pathogenic/Likely pathogenic	1	2	9	463
MUT:COL7A1:Gly2055Glu	PROT:Q02388	COL7A1	G	2055	E	G2055E	Pathogenic	1	1	9	457
MUT:COL7A1:Gly2061Glu	PROT:Q02388	COL7A1	G	2061	E	G2061E	Pathogenic	1	1	9	451
MUT:COL7A1:Gly2061Val	PROT:Q02388	COL7A1	G	2061	V	G2061V	Pathogenic	1	1	9	451
MUT:COL7A1:Gly2064Arg	PROT:Q02388	COL7A1	G	2064	R	G2064R	Pathogenic	1	1	9	448
MUT:COL7A1:Gly2064Glu	PROT:Q02388	COL7A1	G	2064	E	G2064E	Pathogenic	1	1	9	448
MUT:COL7A1:Gly2070Glu	PROT:Q02388	COL7A1	G	2070	E	G2070E	Pathogenic	1	1	9	442
MUT:COL7A1:Gly2070Val	PROT:Q02388	COL7A1	G	2070	V	G2070V	Likely pathogenic	1	1	9	442
MUT:COL7A1:Gly2073Cys	PROT:Q02388	COL7A1	G	2073	C	G2073C	Pathogenic/Likely pathogenic	1	1	9	439
MUT:COL7A1:Gly2073Val	PROT:Q02388	COL7A1	G	2073	V	G2073V	Likely pathogenic	1	2	9	439
MUT:COL7A1:Gly2076Asp	PROT:Q02388	COL7A1	G	2076	D	G2076D	Pathogenic	1	2	9	436
MUT:COL7A1:Gly2079Arg	PROT:Q02388	COL7A1	G	2079	R	G2079R	Pathogenic	1	3	9	433
MUT:COL7A1:Gly2079Lys	PROT:Q02388	COL7A1	G	2079	K	G2079K	Likely pathogenic	1	1	9	433
MUT:COL7A1:Gly2088Arg	PROT:Q02388	COL7A1	G	2088	R	G2088R	Pathogenic	1	1	9	424
MUT:COL7A1:Gly2114Ser	PROT:Q02388	COL7A1	G	2114	S	G2114S	Likely pathogenic	1	1	9	398
MUT:COL7A1:Gly2114Val	PROT:Q02388	COL7A1	G	2114	V	G2114V	Likely pathogenic	1	1	9	398
MUT:COL7A1:Gly2132Asp	PROT:Q02388	COL7A1	G	2132	D	G2132D	Pathogenic/Likely pathogenic	1	1	9	380
MUT:COL7A1:Gly2189Val	PROT:Q02388	COL7A1	G	2189	V	G2189V	Likely pathogenic	1	1	9	323
MUT:COL7A1:Gly2213Arg	PROT:Q02388	COL7A1	G	2213	R	G2213R	Pathogenic/Likely pathogenic	1	1	9	299
MUT:COL7A1:Gly2213Glu	PROT:Q02388	COL7A1	G	2213	E	G2213E	Likely pathogenic	1	1	9	299
MUT:COL7A1:Gly2216Glu	PROT:Q02388	COL7A1	G	2216	E	G2216E	Pathogenic	1	2	9	296
MUT:COL7A1:Gly2221Ala	PROT:Q02388	COL7A1	G	2221	A	G2221A	Pathogenic	1	1	9	291
MUT:COL7A1:Gly2233Asp	PROT:Q02388	COL7A1	G	2233	D	G2233D	Likely pathogenic	1	1	9	279
MUT:COL7A1:Gly2233Ser	PROT:Q02388	COL7A1	G	2233	S	G2233S	Pathogenic	1	3	9	279
MUT:COL7A1:Gly2239Ser	PROT:Q02388	COL7A1	G	2239	S	G2239S	Pathogenic	1	1	9	273
MUT:COL7A1:Gly2242Arg	PROT:Q02388	COL7A1	G	2242	R	G2242R	Pathogenic	1	2	9	270
MUT:COL7A1:Gly2245Asp	PROT:Q02388	COL7A1	G	2245	D	G2245D	Likely pathogenic	1	3	9	267
MUT:COL7A1:Gly2245Ser	PROT:Q02388	COL7A1	G	2245	S	G2245S	Pathogenic	1	1	9	267
MUT:COL7A1:Gly2251Glu	PROT:Q02388	COL7A1	G	2251	E	G2251E	Likely pathogenic	1	5	9	261
MUT:COL7A1:Gly2254Ala	PROT:Q02388	COL7A1	G	2254	A	G2254A	Pathogenic	1	1	9	258
MUT:COL7A1:Gly2257Ala	PROT:Q02388	COL7A1	G	2257	A	G2257A	Pathogenic/Likely pathogenic	1	1	9	255
MUT:COL7A1:Gly2257Val	PROT:Q02388	COL7A1	G	2257	V	G2257V	Likely pathogenic	1	1	9	255
MUT:COL7A1:Gly2263Asp	PROT:Q02388	COL7A1	G	2263	D	G2263D	Pathogenic/Likely pathogenic	1	1	9	249
MUT:COL7A1:Gly2263Val	PROT:Q02388	COL7A1	G	2263	V	G2263V	Likely pathogenic	1	1	9	249
MUT:COL7A1:Gly2281Arg	PROT:Q02388	COL7A1	G	2281	R	G2281R	Pathogenic	1	1	9	231
MUT:COL7A1:Gly2287Arg	PROT:Q02388	COL7A1	G	2287	R	G2287R	Pathogenic	1	5	9	225
MUT:COL7A1:Gly2330Asp	PROT:Q02388	COL7A1	G	2330	D	G2330D	Pathogenic/Likely pathogenic	1	2	9	182
MUT:COL7A1:Gly2342Asp	PROT:Q02388	COL7A1	G	2342	D	G2342D	Likely pathogenic	1	1	9	170
MUT:COL7A1:Gly2351Arg	PROT:Q02388	COL7A1	G	2351	R	G2351R	Pathogenic	1	2	9	161
MUT:COL7A1:Gly2357Arg	PROT:Q02388	COL7A1	G	2357	R	G2357R	Likely pathogenic	1	1	9	155
MUT:COL7A1:Gly2360Arg	PROT:Q02388	COL7A1	G	2360	R	G2360R	Pathogenic	1	1	9	152
MUT:COL7A1:Gly2366Ala	PROT:Q02388	COL7A1	G	2366	A	G2366A	Pathogenic/Likely pathogenic	1	1	9	146
MUT:COL7A1:Gly2366Asp	PROT:Q02388	COL7A1	G	2366	D	G2366D	Pathogenic	1	1	9	146
MUT:COL7A1:Gly2366Cys	PROT:Q02388	COL7A1	G	2366	C	G2366C	Pathogenic	1	2	9	146
MUT:COL7A1:Gly2366Val	PROT:Q02388	COL7A1	G	2366	V	G2366V	Pathogenic/Likely pathogenic	1	1	9	146
MUT:COL7A1:Gly2372Val	PROT:Q02388	COL7A1	G	2372	V	G2372V	Pathogenic/Likely pathogenic	1	2	9	140
MUT:COL7A1:Gly2374Arg	PROT:Q02388	COL7A1	G	2374	R	G2374R	Pathogenic/Likely pathogenic	1	2	9	138
MUT:COL7A1:Gly2425Asp	PROT:Q02388	COL7A1	G	2425	D	G2425D	Likely pathogenic	1	1	9	87
MUT:COL7A1:Gly2428Val	PROT:Q02388	COL7A1	G	2428	V	G2428V	Pathogenic	1	1	9	84
MUT:COL7A1:Gly2434Arg	PROT:Q02388	COL7A1	G	2434	R	G2434R	Pathogenic/Likely pathogenic	1	1	9	78
MUT:COL7A1:Gly2452Arg	PROT:Q02388	COL7A1	G	2452	R	G2452R	Likely pathogenic	1	1	9	60
MUT:COL7A1:Gly2481Asp	PROT:Q02388	COL7A1	G	2481	D	G2481D	Pathogenic/Likely pathogenic	1	1	9	31
MUT:COL7A1:Gly2502Glu	PROT:Q02388	COL7A1	G	2502	E	G2502E	Pathogenic/Likely pathogenic	1	1	9	10
MUT:COL7A1:Gly2517Asp	PROT:Q02388	COL7A1	G	2517	D	G2517D	Likely pathogenic	1	1	9	5
MUT:COL7A1:Gly2520Val	PROT:Q02388	COL7A1	G	2520	V	G2520V	Pathogenic	1	1	9	8
MUT:COL7A1:Gly2542Arg	PROT:Q02388	COL7A1	G	2542	R	G2542R	Likely pathogenic	1	1	9	30
MUT:COL7A1:Gly2551Arg	PROT:Q02388	COL7A1	G	2551	R	G2551R	Pathogenic/Likely pathogenic	1	1	9	39
MUT:COL7A1:Gly2557Arg	PROT:Q02388	COL7A1	G	2557	R	G2557R	Likely pathogenic	1	1	9	45
MUT:COL7A1:Gly2575Arg	PROT:Q02388	COL7A1	G	2575	R	G2575R	Pathogenic	1	3	9	63
MUT:COL7A1:Gly2575Trp	PROT:Q02388	COL7A1	G	2575	W	G2575W	Likely pathogenic	1	1	9	63
MUT:COL7A1:Gly2587Asp	PROT:Q02388	COL7A1	G	2587	D	G2587D	Pathogenic	1	1	9	75
MUT:COL7A1:Gly2590Arg	PROT:Q02388	COL7A1	G	2590	R	G2590R	Likely pathogenic	1	1	9	78
MUT:COL7A1:Gly2623Cys	PROT:Q02388	COL7A1	G	2623	C	G2623C	Pathogenic	1	1	9	111
MUT:COL7A1:Gly2626Asp	PROT:Q02388	COL7A1	G	2626	D	G2626D	Pathogenic	1	1	9	114
MUT:COL7A1:Gly2626Ser	PROT:Q02388	COL7A1	G	2626	S	G2626S	Likely pathogenic	1	1	9	114
MUT:COL7A1:Gly2644Glu	PROT:Q02388	COL7A1	G	2644	E	G2644E	Pathogenic	1	1	9	132
MUT:COL7A1:Gly2650Asp	PROT:Q02388	COL7A1	G	2650	D	G2650D	Likely pathogenic	1	1	9	138
MUT:COL7A1:Gly2653Arg	PROT:Q02388	COL7A1	G	2653	R	G2653R	Pathogenic	1	2	9	141
MUT:COL7A1:Gly2680Ser	PROT:Q02388	COL7A1	G	2680	S	G2680S	Pathogenic	1	2	9	168
MUT:COL7A1:Gly2683Ser	PROT:Q02388	COL7A1	G	2683	S	G2683S	Likely pathogenic	1	1	9	171
MUT:COL7A1:Gly2689Arg	PROT:Q02388	COL7A1	G	2689	R	G2689R	Pathogenic	1	3	9	177
MUT:COL7A1:Gly2692Asp	PROT:Q02388	COL7A1	G	2692	D	G2692D	Likely pathogenic	1	1	9	180
MUT:COL7A1:Gly2701Arg	PROT:Q02388	COL7A1	G	2701	R	G2701R	Likely pathogenic	1	1	9	189
MUT:COL7A1:Gly2713Asp	PROT:Q02388	COL7A1	G	2713	D	G2713D	Pathogenic	1	1	9	201
MUT:COL7A1:Gly2719Ala	PROT:Q02388	COL7A1	G	2719	A	G2719A	Pathogenic/Likely pathogenic	1	2	9	207
MUT:COL7A1:Gly2719Asp	PROT:Q02388	COL7A1	G	2719	D	G2719D	Pathogenic	1	1	9	207
MUT:COL7A1:Gly2722Asp	PROT:Q02388	COL7A1	G	2722	D	G2722D	Pathogenic/Likely pathogenic	1	1	9	210
MUT:COL7A1:Gly2722Val	PROT:Q02388	COL7A1	G	2722	V	G2722V	Pathogenic	1	2	9	210
MUT:COL7A1:Gly2734Arg	PROT:Q02388	COL7A1	G	2734	R	G2734R	Likely pathogenic	1	1	9	222
MUT:COL7A1:Gly2737Arg	PROT:Q02388	COL7A1	G	2737	R	G2737R	Pathogenic	1	1	9	225
MUT:COL7A1:Gly2740Ala	PROT:Q02388	COL7A1	G	2740	A	G2740A	Pathogenic/Likely pathogenic	1	2	9	228
MUT:COL7A1:Gly2749Arg	PROT:Q02388	COL7A1	G	2749	R	G2749R	Pathogenic	1	3	9	237
MUT:COL7A1:Gly2749Glu	PROT:Q02388	COL7A1	G	2749	E	G2749E	Pathogenic/Likely pathogenic	1	3	9	237
MUT:COL7A1:Gly2760Arg	PROT:Q02388	COL7A1	G	2760	R	G2760R	Likely pathogenic	1	1	9	248
MUT:COL7A1:Gly2775Asp	PROT:Q02388	COL7A1	G	2775	D	G2775D	Likely pathogenic	1	1	9	263
MUT:COL7A1:Gly2775Ser	PROT:Q02388	COL7A1	G	2775	S	G2775S	Pathogenic	1	2	9	263
MUT:COL7A1:Gly2910Asp	PROT:Q02388	COL7A1	G	2910	D	G2910D	Likely pathogenic	1	1	9	398
MUT:COL7A1:Gly503Arg	PROT:Q02388	COL7A1	G	503	R	G503R	Pathogenic	1	1	9	94
MUT:COL7A1:Gly913Arg	PROT:Q02388	COL7A1	G	913	R	G913R	Pathogenic	1	1	9	85
MUT:COL7A1:Ile2609Val	PROT:Q02388	COL7A1	I	2609	V	I2609V	Likely benign	0	1	9	97
MUT:COL7A1:Leu921Gln	PROT:Q02388	COL7A1	L	921	Q	L921Q	Likely benign	0	1	9	93
MUT:COL7A1:Lys142Arg	PROT:Q02388	COL7A1	K	142	R	K142R	Pathogenic	1	8	9	25
MUT:COL7A1:Lys142Asn	PROT:Q02388	COL7A1	K	142	N	K142N	Pathogenic	1	1	9	25
MUT:COL7A1:Lys1556Glu	PROT:Q02388	COL7A1	K	1556	E	K1556E	Likely benign	0	1	9	229
MUT:COL7A1:Lys1981Arg	PROT:Q02388	COL7A1	K	1981	R	K1981R	Likely pathogenic	1	1	9	531
MUT:COL7A1:Lys1981Met	PROT:Q02388	COL7A1	K	1981	M	K1981M	Pathogenic	1	1	9	531
MUT:COL7A1:Lys2066Thr	PROT:Q02388	COL7A1	K	2066	T	K2066T	Likely pathogenic	1	1	9	446
MUT:COL7A1:Lys2166Arg	PROT:Q02388	COL7A1	K	2166	R	K2166R	Likely benign	0	1	9	346
MUT:COL7A1:Lys2267Arg	PROT:Q02388	COL7A1	K	2267	R	K2267R	Likely benign	0	1	9	245
MUT:COL7A1:Lys2309Thr	PROT:Q02388	COL7A1	K	2309	T	K2309T	Likely pathogenic	1	1	9	203
MUT:COL7A1:Lys2562Asn	PROT:Q02388	COL7A1	K	2562	N	K2562N	Pathogenic	1	1	9	50
MUT:COL7A1:Lys2682Arg	PROT:Q02388	COL7A1	K	2682	R	K2682R	Pathogenic	1	1	9	170
MUT:COL7A1:Met1Val	PROT:Q02388	COL7A1	M	1	V	M1V	Pathogenic	1	1	9	34
MUT:COL7A1:Met2415Ile	PROT:Q02388	COL7A1	M	2415	I	M2415I	Likely pathogenic	1	1	9	97
MUT:COL7A1:Met2798Lys	PROT:Q02388	COL7A1	M	2798	K	M2798K	Pathogenic/Likely pathogenic	1	1	9	286
MUT:COL7A1:Met817Val	PROT:Q02388	COL7A1	M	817	V	M817V	Likely benign	0	1	9	11
MUT:COL7A1:Pro1046Thr	PROT:Q02388	COL7A1	P	1046	T	P1046T	Likely benign	0	1	9	218
MUT:COL7A1:Pro1277Leu	PROT:Q02388	COL7A1	P	1277	L	P1277L	Benign/Likely benign	0	2	9	41
MUT:COL7A1:Pro1349Leu	PROT:Q02388	COL7A1	P	1349	L	P1349L	Likely benign	0	1	9	22
MUT:COL7A1:Pro1458Leu	PROT:Q02388	COL7A1	P	1458	L	P1458L	Benign/Likely benign	0	1	9	131
MUT:COL7A1:Pro1520Leu	PROT:Q02388	COL7A1	P	1520	L	P1520L	Likely benign	0	2	9	193
MUT:COL7A1:Pro1699Leu	PROT:Q02388	COL7A1	P	1699	L	P1699L	Pathogenic/Likely pathogenic	1	3	9	372
MUT:COL7A1:Pro1850Ser	PROT:Q02388	COL7A1	P	1850	S	P1850S	Likely benign	0	1	9	523
MUT:COL7A1:Pro2042Leu	PROT:Q02388	COL7A1	P	2042	L	P2042L	Pathogenic	1	1	9	470
MUT:COL7A1:Pro2167Leu	PROT:Q02388	COL7A1	P	2167	L	P2167L	Benign	0	2	9	345
MUT:COL7A1:Pro2229Leu	PROT:Q02388	COL7A1	P	2229	L	P2229L	Pathogenic	1	1	9	283
MUT:COL7A1:Pro2256Leu	PROT:Q02388	COL7A1	P	2256	L	P2256L	Pathogenic	1	1	9	256
MUT:COL7A1:Pro2362Ser	PROT:Q02388	COL7A1	P	2362	S	P2362S	Likely benign	0	1	9	150
MUT:COL7A1:Pro2429Leu	PROT:Q02388	COL7A1	P	2429	L	P2429L	Benign/Likely benign	0	2	9	83
MUT:COL7A1:Pro2438Arg	PROT:Q02388	COL7A1	P	2438	R	P2438R	Benign	0	1	9	74
MUT:COL7A1:Pro268Ser	PROT:Q02388	COL7A1	P	268	S	P268S	Benign/Likely benign	0	4	9	140
MUT:COL7A1:Pro2726Leu	PROT:Q02388	COL7A1	P	2726	L	P2726L	Likely benign	0	1	9	214
MUT:COL7A1:Pro2847Ala	PROT:Q02388	COL7A1	P	2847	A	P2847A	Likely benign	0	1	9	335
MUT:COL7A1:Pro595Leu	PROT:Q02388	COL7A1	P	595	L	P595L	Benign/Likely benign	0	2	9	2
MUT:COL7A1:Pro637Leu	PROT:Q02388	COL7A1	P	637	L	P637L	Likely benign	0	1	9	40
MUT:COL7A1:Pro867Leu	PROT:Q02388	COL7A1	P	867	L	P867L	Likely benign	0	1	9	39
MUT:COL7A1:Ser396Cys	PROT:Q02388	COL7A1	S	396	C	S396C	Likely benign	0	1	9	12
MUT:COL7A1:Ser48Phe	PROT:Q02388	COL7A1	S	48	F	S48F	Pathogenic	1	1	9	1
MUT:COL7A1:Ser543Asn	PROT:Q02388	COL7A1	S	543	N	S543N	Benign	0	2	9	54
MUT:COL7A1:Thr1029Met	PROT:Q02388	COL7A1	T	1029	M	T1029M	Likely benign	0	1	9	201
MUT:COL7A1:Thr1711Ile	PROT:Q02388	COL7A1	T	1711	I	T1711I	Likely benign	0	2	9	384
MUT:COL7A1:Thr30Ile	PROT:Q02388	COL7A1	T	30	I	T30I	Benign	0	1	9	5
MUT:COL7A1:Thr535Asn	PROT:Q02388	COL7A1	T	535	N	T535N	Likely benign	0	1	9	62
MUT:COL7A1:Trp2892Cys	PROT:Q02388	COL7A1	W	2892	C	W2892C	Likely pathogenic	1	1	9	380
MUT:COL7A1:Tyr2858His	PROT:Q02388	COL7A1	Y	2858	H	Y2858H	Pathogenic	1	1	9	346
MUT:COL7A1:Val1022Ile	PROT:Q02388	COL7A1	V	1022	I	V1022I	Likely benign	0	1	9	194
MUT:COL7A1:Val1157Ile	PROT:Q02388	COL7A1	V	1157	I	V1157I	Likely benign	0	1	9	161
MUT:COL7A1:Val1438Ile	PROT:Q02388	COL7A1	V	1438	I	V1438I	Likely benign	0	2	9	111
MUT:COL7A1:Val285Ile	PROT:Q02388	COL7A1	V	285	I	V285I	Likely benign	0	1	9	123
MUT:COL7A1:Val932Met	PROT:Q02388	COL7A1	V	932	M	V932M	Likely benign	0	1	9	104
MUT:COLGALT1:Ala154Pro	PROT:Q8NBJ5	COLGALT1	A	154	P	A154P	Pathogenic	1	1	5	9
MUT:COLGALT1:Arg155Gly	PROT:Q8NBJ5	COLGALT1	R	155	G	R155G	Likely benign	0	1	5	10
MUT:COLGALT1:Arg226Gln	PROT:Q8NBJ5	COLGALT1	R	226	Q	R226Q	Benign/Likely benign	0	1	5	20
MUT:COLGALT1:Gly377Arg	PROT:Q8NBJ5	COLGALT1	G	377	R	G377R	Pathogenic	1	1	5	44
MUT:COLGALT1:Leu151Arg	PROT:Q8NBJ5	COLGALT1	L	151	R	L151R	Pathogenic	1	1	5	6
MUT:COLGALT1:Leu58Pro	PROT:Q8NBJ5	COLGALT1	L	58	P	L58P	Likely pathogenic	1	1	5	87
MUT:COPB1:Phe551Val	PROT:P53618	COPB1	F	551	V	F551V	Pathogenic	1	1	35	30
MUT:COPG1:Leu240Val	PROT:Q9Y678	COPG1	L	240	V	L240V	Benign/Likely benign	0	5	23	21
MUT:COPS6:Val235Ile	PROT:Q7L5N1	COPS6	V	235	I	V235I	Likely benign	0	1	11	6
MUT:COQ5:Ser6Gly	PROT:Q5HYK3	COQ5	S	6	G	S6G	Likely benign	0	1	2	52
MUT:COQ8A:Ala304Val	PROT:Q8NI60	COQ8A	A	304	V	A304V	Pathogenic/Likely pathogenic	1	1	8	6
MUT:COQ8A:Ala338Val	PROT:Q8NI60	COQ8A	A	338	V	A338V	Likely pathogenic	1	1	8	11
MUT:COQ8A:Ala339Thr	PROT:Q8NI60	COQ8A	A	339	T	A339T	Pathogenic/Likely pathogenic	1	2	8	12
MUT:COQ8A:Arg213Gln	PROT:Q8NI60	COQ8A	R	213	Q	R213Q	Likely pathogenic	1	1	8	33
MUT:COQ8A:Arg213Trp	PROT:Q8NI60	COQ8A	R	213	W	R213W	Pathogenic/Likely pathogenic	1	1	8	33
MUT:COQ8A:Arg299Trp	PROT:Q8NI60	COQ8A	R	299	W	R299W	Pathogenic/Likely pathogenic	1	1	8	4
MUT:COQ8A:Arg301Gln	PROT:Q8NI60	COQ8A	R	301	Q	R301Q	Likely pathogenic	1	1	8	6
MUT:COQ8A:Arg301Trp	PROT:Q8NI60	COQ8A	R	301	W	R301W	Pathogenic/Likely pathogenic	1	1	8	6
MUT:COQ8A:Arg626Cys	PROT:Q8NI60	COQ8A	R	626	C	R626C	Benign/Likely benign	0	1	8	109
MUT:COQ8A:Asp100Tyr	PROT:Q8NI60	COQ8A	D	100	Y	D100Y	Benign/Likely benign	0	2	8	146
MUT:COQ8A:Cys268Arg	PROT:Q8NI60	COQ8A	C	268	R	C268R	Likely pathogenic	1	1	8	1
MUT:COQ8A:Gln279Pro	PROT:Q8NI60	COQ8A	Q	279	P	Q279P	Likely pathogenic	1	1	8	10
MUT:COQ8A:Gly272Ala	PROT:Q8NI60	COQ8A	G	272	A	G272A	Likely pathogenic	1	1	8	3
MUT:COQ8A:Gly272Asp	PROT:Q8NI60	COQ8A	G	272	D	G272D	Pathogenic	1	1	8	3
MUT:COQ8A:Gly272Cys	PROT:Q8NI60	COQ8A	G	272	C	G272C	Pathogenic	1	1	8	3
MUT:COQ8A:Gly272Val	PROT:Q8NI60	COQ8A	G	272	V	G272V	Pathogenic	1	1	8	3
MUT:COQ8A:Gly615Asp	PROT:Q8NI60	COQ8A	G	615	D	G615D	Pathogenic	1	1	8	98
MUT:COQ8A:His80Tyr	PROT:Q8NI60	COQ8A	H	80	Y	H80Y	Benign/Likely benign	0	1	8	166
MUT:COQ8A:His85Gln	PROT:Q8NI60	COQ8A	H	85	Q	H85Q	Benign/Likely benign	0	11	8	161
MUT:COQ8A:Leu277Pro	PROT:Q8NI60	COQ8A	L	277	P	L277P	Likely pathogenic	1	1	8	8
MUT:COQ8A:Leu459Pro	PROT:Q8NI60	COQ8A	L	459	P	L459P	Likely pathogenic	1	1	8	51
MUT:COQ8A:Lys276Arg	PROT:Q8NI60	COQ8A	K	276	R	K276R	Pathogenic	1	1	8	7
MUT:COQ8A:Met555Ile	PROT:Q8NI60	COQ8A	M	555	I	M555I	Pathogenic/Likely pathogenic	1	2	8	38
MUT:COQ8A:Phe508Ser	PROT:Q8NI60	COQ8A	F	508	S	F508S	Pathogenic	1	1	8	9
MUT:COQ8A:Pro207Leu	PROT:Q8NI60	COQ8A	P	207	L	P207L	Likely pathogenic	1	1	8	39
MUT:COQ8A:Ser340Cys	PROT:Q8NI60	COQ8A	S	340	C	S340C	Likely pathogenic	1	1	8	13
MUT:COQ8A:Ser608Phe	PROT:Q8NI60	COQ8A	S	608	F	S608F	Likely pathogenic	1	1	8	91
MUT:COQ8A:Thr511Met	PROT:Q8NI60	COQ8A	T	511	M	T511M	Likely pathogenic	1	1	8	6
MUT:COQ8A:Tyr514Cys	PROT:Q8NI60	COQ8A	Y	514	C	Y514C	Pathogenic	1	1	8	3
MUT:COQ8B:Arg150Gln	PROT:Q96D53	COQ8B	R	150	Q	R150Q	Likely pathogenic	1	1	1	274
MUT:COQ8B:Arg178Trp	PROT:Q96D53	COQ8B	R	178	W	R178W	Pathogenic/Likely pathogenic	1	1	1	246
MUT:COQ8B:Arg320Trp	PROT:Q96D53	COQ8B	R	320	W	R320W	Pathogenic	1	1	1	104
MUT:COQ8B:Arg343Trp	PROT:Q96D53	COQ8B	R	343	W	R343W	Pathogenic	1	1	1	81
MUT:COQ8B:Arg477Gln	PROT:Q96D53	COQ8B	R	477	Q	R477Q	Pathogenic/Likely pathogenic	1	1	1	53
MUT:COQ8B:Arg78Cys	PROT:Q96D53	COQ8B	R	78	C	R78C	Benign/Likely benign	0	1	1	346
MUT:COQ8B:Arg91Cys	PROT:Q96D53	COQ8B	R	91	C	R91C	Likely pathogenic	1	1	1	333
MUT:COQ8B:Asn253Lys	PROT:Q96D53	COQ8B	N	253	K	N253K	Likely pathogenic	1	1	1	171
MUT:COQ8B:Asp250Asn	PROT:Q96D53	COQ8B	D	250	N	D250N	Pathogenic	1	1	1	174
MUT:COQ8B:Asp286Gly	PROT:Q96D53	COQ8B	D	286	G	D286G	Pathogenic	1	1	1	138
MUT:COQ8B:Asp386Asn	PROT:Q96D53	COQ8B	D	386	N	D386N	Likely pathogenic	1	1	1	38
MUT:COQ8B:Cys147Arg	PROT:Q96D53	COQ8B	C	147	R	C147R	Likely pathogenic	1	1	1	277
MUT:COQ8B:Cys479Arg	PROT:Q96D53	COQ8B	C	479	R	C479R	Likely benign	0	1	1	55
MUT:COQ8B:Gln252Arg	PROT:Q96D53	COQ8B	Q	252	R	Q252R	Likely benign	0	1	1	172
MUT:COQ8B:Gly7Asp	PROT:Q96D53	COQ8B	G	7	D	G7D	Likely benign	0	1	1	417
MUT:COQ8B:Met115Thr	PROT:Q96D53	COQ8B	M	115	T	M115T	Likely benign	0	1	1	309
MUT:COQ8B:Thr352Arg	PROT:Q96D53	COQ8B	T	352	R	T352R	Benign/Likely benign	0	1	1	72
MUT:COQ9:Ala113Thr	PROT:O75208	COQ9	A	113	T	A113T	Likely benign	0	2	5	18
MUT:COQ9:Arg276Trp	PROT:O75208	COQ9	R	276	W	R276W	Benign/Likely benign	0	1	5	17
MUT:COQ9:Arg27Gly	PROT:O75208	COQ9	R	27	G	R27G	Benign/Likely benign	0	2	5	20
MUT:COQ9:Leu209Val	PROT:O75208	COQ9	L	209	V	L209V	Benign/Likely benign	0	2	5	31
MUT:COQ9:Lys288Asn	PROT:O75208	COQ9	K	288	N	K288N	Benign	0	1	5	5
MUT:COQ9:Met283Ile	PROT:O75208	COQ9	M	283	I	M283I	Likely benign	0	1	5	10
MUT:COQ9:Val25Met	PROT:O75208	COQ9	V	25	M	V25M	Pathogenic	1	1	5	18
MUT:COX10:Arg159Gln	PROT:Q12887	COX10	R	159	Q	R159Q	Benign/Likely benign	0	2	1	256
MUT:COX10:Arg431Pro	PROT:Q12887	COX10	R	431	P	R431P	Likely benign	0	1	1	16
MUT:COX10:Asn204Lys	PROT:Q12887	COX10	N	204	K	N204K	Pathogenic	1	1	1	211
MUT:COX10:Asp336Gly	PROT:Q12887	COX10	D	336	G	D336G	Pathogenic	1	1	1	79
MUT:COX10:Asp336Val	PROT:Q12887	COX10	D	336	V	D336V	Pathogenic/Likely pathogenic	1	2	1	79
MUT:COX10:Ile29Val	PROT:Q12887	COX10	I	29	V	I29V	Likely benign	0	1	1	386
MUT:COX10:Met1Thr	PROT:Q12887	COX10	M	1	T	M1T	Pathogenic	1	1	1	414
MUT:COX10:Pro225Leu	PROT:Q12887	COX10	P	225	L	P225L	Likely pathogenic	1	1	1	190
MUT:COX10:Thr196Lys	PROT:Q12887	COX10	T	196	K	T196K	Pathogenic	1	1	1	219
MUT:COX10:Thr221Ala	PROT:Q12887	COX10	T	221	A	T221A	Likely pathogenic	1	1	1	194
MUT:COX10:Thr28Ile	PROT:Q12887	COX10	T	28	I	T28I	Benign/Likely benign	0	2	1	387
MUT:COX10:Thr62Ser	PROT:Q12887	COX10	T	62	S	T62S	Benign	0	10	1	353
MUT:COX10:Tyr97Cys	PROT:Q12887	COX10	Y	97	C	Y97C	Benign/Likely benign	0	6	1	318
MUT:COX11:Ala244Pro	PROT:Q9Y6N1	COX11	A	244	P	A244P	Pathogenic	1	1	4	21
MUT:COX11:Pro247Thr	PROT:Q9Y6N1	COX11	P	247	T	P247T	Pathogenic	1	1	4	18
MUT:COX15:Arg183His	PROT:Q7KZN9	COX15	R	183	H	R183H	Benign/Likely benign	0	3	2	26
MUT:COX15:Arg217Trp	PROT:Q7KZN9	COX15	R	217	W	R217W	Pathogenic	1	1	2	8
MUT:COX15:Gly70Asp	PROT:Q7KZN9	COX15	G	70	D	G70D	Likely pathogenic	1	1	2	7
MUT:COX15:Phe280Ser	PROT:Q7KZN9	COX15	F	280	S	F280S	Likely pathogenic	1	1	2	71
MUT:COX6B1:Arg20Cys	PROT:P14854	COX6B1	R	20	C	R20C	Likely pathogenic	1	1	9	7
MUT:COX6B1:Arg20His	PROT:P14854	COX6B1	R	20	H	R20H	Likely pathogenic	1	2	9	7
MUT:COX7B:Arg29Cys	PROT:P24311	COX7B	R	29	C	R29C	Likely benign	0	1	1	46
MUT:COX7B:Lys6Arg	PROT:P24311	COX7B	K	6	R	K6R	Likely benign	0	1	1	69
MUT:CPA1:Ala137Gly	PROT:P15085	CPA1	A	137	G	A137G	Likely benign	0	1	2	209
MUT:CPA1:Ala208Thr	PROT:P15085	CPA1	A	208	T	A208T	Benign/Likely benign	0	1	2	138
MUT:CPA1:Ala259Thr	PROT:P15085	CPA1	A	259	T	A259T	Likely benign	0	1	2	87
MUT:CPA1:Ala341Thr	PROT:P15085	CPA1	A	341	T	A341T	Benign/Likely benign	0	1	2	5
MUT:CPA1:Ala356Thr	PROT:P15085	CPA1	A	356	T	A356T	Likely benign	0	1	2	4
MUT:CPA1:Arg110Gly	PROT:P15085	CPA1	R	110	G	R110G	Likely benign	0	1	2	236
MUT:CPA1:Arg112Cys	PROT:P15085	CPA1	R	112	C	R112C	Likely benign	0	1	2	234
MUT:CPA1:Arg2Gln	PROT:P15085	CPA1	R	2	Q	R2Q	Benign/Likely benign	0	2	2	344
MUT:CPA1:Asn233Asp	PROT:P15085	CPA1	N	233	D	N233D	Likely benign	0	1	2	113
MUT:CPA1:Asp115Asn	PROT:P15085	CPA1	D	115	N	D115N	Likely benign	0	1	2	231
MUT:CPA1:Asp19Glu	PROT:P15085	CPA1	D	19	E	D19E	Likely benign	0	1	2	327
MUT:CPA1:Asp32Gly	PROT:P15085	CPA1	D	32	G	D32G	Likely benign	0	1	2	314
MUT:CPA1:Asp51Asn	PROT:P15085	CPA1	D	51	N	D51N	Likely benign	0	1	2	295
MUT:CPA1:Gln202Lys	PROT:P15085	CPA1	Q	202	K	Q202K	Benign/Likely benign	0	1	2	144
MUT:CPA1:Glu412Gln	PROT:P15085	CPA1	E	412	Q	E412Q	Likely benign	0	1	2	60
MUT:CPA1:His141Gln	PROT:P15085	CPA1	H	141	Q	H141Q	Likely benign	0	1	2	205
MUT:CPA1:Lys168Asn	PROT:P15085	CPA1	K	168	N	K168N	Likely benign	0	1	2	178
MUT:CPA1:Lys319Arg	PROT:P15085	CPA1	K	319	R	K319R	Likely benign	0	1	2	27
MUT:CPA1:Lys401Arg	PROT:P15085	CPA1	K	401	R	K401R	Likely benign	0	1	2	49
MUT:CPA1:Lys401Gln	PROT:P15085	CPA1	K	401	Q	K401Q	Likely benign	0	1	2	49
MUT:CPA1:Lys401Thr	PROT:P15085	CPA1	K	401	T	K401T	Likely benign	0	1	2	49
MUT:CPA1:Met313Leu	PROT:P15085	CPA1	M	313	L	M313L	Likely benign	0	1	2	33
MUT:CPA1:Phe206Leu	PROT:P15085	CPA1	F	206	L	F206L	Likely benign	0	1	2	140
MUT:CPA1:Ser370Asn	PROT:P15085	CPA1	S	370	N	S370N	Likely benign	0	1	2	18
MUT:CPA1:Ser81Tyr	PROT:P15085	CPA1	S	81	Y	S81Y	Likely benign	0	1	2	265
MUT:CPA1:Thr124Ile	PROT:P15085	CPA1	T	124	I	T124I	Benign/Likely benign	0	2	2	222
MUT:CPA1:Thr232Met	PROT:P15085	CPA1	T	232	M	T232M	Benign/Likely benign	0	1	2	114
MUT:CPA1:Thr88Ile	PROT:P15085	CPA1	T	88	I	T88I	Likely benign	0	1	2	258
MUT:CPA6:Asn249Ser	PROT:Q8N4T0	CPA6	N	249	S	N249S	Benign	0	6	5	33
MUT:CPA6:Leu413Phe	PROT:Q8N4T0	CPA6	L	413	F	L413F	Benign/Likely benign	0	1	5	77
MUT:CPA6:Phe45Leu	PROT:Q8N4T0	CPA6	F	45	L	F45L	Benign	0	2	5	15
MUT:CPA6:Ser173Cys	PROT:Q8N4T0	CPA6	S	173	C	S173C	Benign	0	2	5	43
MUT:CPA6:Tyr217His	PROT:Q8N4T0	CPA6	Y	217	H	Y217H	Likely benign	0	1	5	1
MUT:CPE:Ala423Val	PROT:P16870	CPE	A	423	V	A423V	Benign/Likely benign	0	1	7	10
MUT:CPE:Ala72Val	PROT:P16870	CPE	A	72	V	A72V	Likely benign	0	1	7	92
MUT:CPE:Glu465Gly	PROT:P16870	CPE	E	465	G	E465G	Likely benign	0	1	7	32
MUT:CPE:Ile393Val	PROT:P16870	CPE	I	393	V	I393V	Benign	0	1	7	13
MUT:CPE:Ile415Val	PROT:P16870	CPE	I	415	V	I415V	Likely benign	0	1	7	9
MUT:CPE:Lys456Glu	PROT:P16870	CPE	K	456	E	K456E	Likely benign	0	1	7	23
MUT:CPE:Val200Met	PROT:P16870	CPE	V	200	M	V200M	Likely benign	0	1	7	24
MUT:CPE:Val380Ile	PROT:P16870	CPE	V	380	I	V380I	Benign	0	1	7	12
MUT:CPN1:Gly178Asp	PROT:P15169	CPN1	G	178	D	G178D	Benign	0	2	1	34
MUT:CPN1:Thr245Met	PROT:P15169	CPN1	T	245	M	T245M	Likely pathogenic	1	1	1	33
MUT:CPOX:Arg328Cys	PROT:P36551	CPOX	R	328	C	R328C	Pathogenic	1	1	14	14
MUT:CPOX:Arg352Cys	PROT:P36551	CPOX	R	352	C	R352C	Benign	0	1	14	5
MUT:CPOX:Arg426Gln	PROT:P36551	CPOX	R	426	Q	R426Q	Pathogenic	1	1	14	2
MUT:CPOX:Asn272His	PROT:P36551	CPOX	N	272	H	N272H	Benign	0	2	14	29
MUT:CPOX:Asp343Val	PROT:P36551	CPOX	D	343	V	D343V	Likely benign	0	1	14	4
MUT:CPOX:Glu201Lys	PROT:P36551	CPOX	E	201	K	E201K	Pathogenic/Likely pathogenic	1	1	14	17
MUT:CPOX:Gly279Arg	PROT:P36551	CPOX	G	279	R	G279R	Pathogenic	1	1	14	22
MUT:CPOX:His295Asp	PROT:P36551	CPOX	H	295	D	H295D	Pathogenic	1	1	14	6
MUT:CPOX:His327Arg	PROT:P36551	CPOX	H	327	R	H327R	Pathogenic	1	1	14	13
MUT:CPOX:His95Arg	PROT:P36551	CPOX	H	95	R	H95R	Benign	0	1	14	89
MUT:CPOX:Lys370Glu	PROT:P36551	CPOX	K	370	E	K370E	Benign	0	1	14	0
MUT:CPOX:Lys404Glu	PROT:P36551	CPOX	K	404	E	K404E	Pathogenic/Likely pathogenic	1	2	14	0
MUT:CPOX:Ser208Phe	PROT:P36551	CPOX	S	208	F	S208F	Pathogenic	1	1	14	12
MUT:CPOX:Thr256Ala	PROT:P36551	CPOX	T	256	A	T256A	Benign	0	1	14	36
MUT:CPOX:Val294Ile	PROT:P36551	CPOX	V	294	I	V294I	Benign	0	1	14	7
MUT:CPSF1:Ala918Thr	PROT:Q10570	CPSF1	A	918	T	A918T	Likely benign	0	1	24	24
MUT:CPSF1:Asp1275Tyr	PROT:Q10570	CPSF1	D	1275	Y	D1275Y	Pathogenic	1	1	24	34
MUT:CPT1B:Arg187Gln	PROT:Q92523	CPT1B	R	187	Q	R187Q	Likely benign	0	1	1	143
MUT:CPZ:Arg126Gln	PROT:Q66K79	CPZ	R	126	Q	R126Q	Benign	0	1	2	102
MUT:CPZ:Arg165Trp	PROT:Q66K79	CPZ	R	165	W	R165W	Likely pathogenic	1	1	2	63
MUT:CPZ:Arg19Pro	PROT:Q66K79	CPZ	R	19	P	R19P	Benign	0	1	2	209
MUT:CPZ:Arg284Cys	PROT:Q66K79	CPZ	R	284	C	R284C	Likely benign	0	1	2	55
MUT:CPZ:Arg570Gln	PROT:Q66K79	CPZ	R	570	Q	R570Q	Likely benign	0	1	2	341
MUT:CPZ:Arg596Gln	PROT:Q66K79	CPZ	R	596	Q	R596Q	Benign	0	1	2	367
MUT:CPZ:Asp218Glu	PROT:Q66K79	CPZ	D	218	E	D218E	Benign	0	1	2	10
MUT:CPZ:Gln130Leu	PROT:Q66K79	CPZ	Q	130	L	Q130L	Benign	0	1	2	98
MUT:CPZ:Gln263Arg	PROT:Q66K79	CPZ	Q	263	R	Q263R	Benign	0	4	2	34
MUT:CPZ:Lys400Glu	PROT:Q66K79	CPZ	K	400	E	K400E	Likely benign	0	1	2	171
MUT:CPZ:Lys412Asn	PROT:Q66K79	CPZ	K	412	N	K412N	Benign	0	9	2	183
MUT:CPZ:Pro480Ala	PROT:Q66K79	CPZ	P	480	A	P480A	Benign	0	1	2	251
MUT:CPZ:Pro6Leu	PROT:Q66K79	CPZ	P	6	L	P6L	Benign	0	1	2	222
MUT:CPZ:Thr501Met	PROT:Q66K79	CPZ	T	501	M	T501M	Benign	0	1	2	272
MUT:CRACR2A:Ala128Val	PROT:Q9BSW2	CRACR2A	A	128	V	A128V	Benign	0	1	9	43
MUT:CRADD:Arg118Gln	PROT:P78560	CRADD	R	118	Q	R118Q	Likely benign	0	1	6	2
MUT:CRADD:Arg170Cys	PROT:P78560	CRADD	R	170	C	R170C	Likely pathogenic	1	1	6	3
MUT:CRADD:Arg170His	PROT:P78560	CRADD	R	170	H	R170H	Pathogenic	1	2	6	3
MUT:CRADD:Arg185Gln	PROT:P78560	CRADD	R	185	Q	R185Q	Benign	0	1	6	12
MUT:CRADD:Ile44Leu	PROT:P78560	CRADD	I	44	L	I44L	Likely benign	0	1	6	4
MUT:CRADD:Leu51Ile	PROT:P78560	CRADD	L	51	I	L51I	Likely benign	0	1	6	2
MUT:CRADD:Met1Arg	PROT:P78560	CRADD	M	1	R	M1R	Pathogenic	1	1	6	10
MUT:CRADD:Met1Thr	PROT:P78560	CRADD	M	1	T	M1T	Pathogenic	1	1	6	10
MUT:CRADD:Ser192Leu	PROT:P78560	CRADD	S	192	L	S192L	Likely benign	0	1	6	19
MUT:CRAT:Ala346Thr	PROT:P43155	CRAT	A	346	T	A346T	Likely benign	0	1	1	85
MUT:CRAT:Leu372Met	PROT:P43155	CRAT	L	372	M	L372M	Benign	0	1	1	111
MUT:CRAT:Tyr110Cys	PROT:P43155	CRAT	Y	110	C	Y110C	Likely benign	0	2	1	151
MUT:CRB1:Ala1362Asp	PROT:P82279	CRB1	A	1362	D	A1362D	Likely pathogenic	1	1	3	16
MUT:CRB1:Ala161Val	PROT:P82279	CRB1	A	161	V	A161V	Likely pathogenic	1	2	3	550
MUT:CRB1:Ala521Val	PROT:P82279	CRB1	A	521	V	A521V	Likely pathogenic	1	1	3	190
MUT:CRB1:Ala713Val	PROT:P82279	CRB1	A	713	V	A713V	Likely pathogenic	1	1	3	2
MUT:CRB1:Ala937Pro	PROT:P82279	CRB1	A	937	P	A937P	Pathogenic	1	1	3	177
MUT:CRB1:Arg1250Lys	PROT:P82279	CRB1	R	1250	K	R1250K	Likely pathogenic	1	1	3	128
MUT:CRB1:Arg1331Cys	PROT:P82279	CRB1	R	1331	C	R1331C	Pathogenic/Likely pathogenic	1	6	3	47
MUT:CRB1:Arg1331Gly	PROT:P82279	CRB1	R	1331	G	R1331G	Likely pathogenic	1	1	3	47
MUT:CRB1:Arg1331His	PROT:P82279	CRB1	R	1331	H	R1331H	Benign/Likely benign	0	7	3	47
MUT:CRB1:Arg764Cys	PROT:P82279	CRB1	R	764	C	R764C	Pathogenic/Likely pathogenic	1	11	3	4
MUT:CRB1:Arg769His	PROT:P82279	CRB1	R	769	H	R769H	Benign/Likely benign	0	6	3	9
MUT:CRB1:Asn880Asp	PROT:P82279	CRB1	N	880	D	N880D	Likely pathogenic	1	1	3	120
MUT:CRB1:Asn898Lys	PROT:P82279	CRB1	N	898	K	N898K	Likely pathogenic	1	1	3	138
MUT:CRB1:Asp1005Val	PROT:P82279	CRB1	D	1005	V	D1005V	Pathogenic/Likely pathogenic	1	6	3	245
MUT:CRB1:Asp1335Tyr	PROT:P82279	CRB1	D	1335	Y	D1335Y	Likely pathogenic	1	1	3	43
MUT:CRB1:Asp397His	PROT:P82279	CRB1	D	397	H	D397H	Likely benign	0	1	3	314
MUT:CRB1:Asp564Asn	PROT:P82279	CRB1	D	564	N	D564N	Likely pathogenic	1	1	3	147
MUT:CRB1:Asp564Tyr	PROT:P82279	CRB1	D	564	Y	D564Y	Pathogenic/Likely pathogenic	1	3	3	147
MUT:CRB1:Cys1148Arg	PROT:P82279	CRB1	C	1148	R	C1148R	Pathogenic/Likely pathogenic	1	2	3	230
MUT:CRB1:Cys1163Phe	PROT:P82279	CRB1	C	1163	F	C1163F	Pathogenic/Likely pathogenic	1	3	3	215
MUT:CRB1:Cys1165Arg	PROT:P82279	CRB1	C	1165	R	C1165R	Likely pathogenic	1	2	3	213
MUT:CRB1:Cys1165Trp	PROT:P82279	CRB1	C	1165	W	C1165W	Likely pathogenic	1	2	3	213
MUT:CRB1:Cys1181Arg	PROT:P82279	CRB1	C	1181	R	C1181R	Likely pathogenic	1	3	3	197
MUT:CRB1:Cys1181Ser	PROT:P82279	CRB1	C	1181	S	C1181S	Likely pathogenic	1	1	3	197
MUT:CRB1:Cys1218Phe	PROT:P82279	CRB1	C	1218	F	C1218F	Pathogenic/Likely pathogenic	1	4	3	160
MUT:CRB1:Cys1218Tyr	PROT:P82279	CRB1	C	1218	Y	C1218Y	Pathogenic/Likely pathogenic	1	3	3	160
MUT:CRB1:Cys1229Ser	PROT:P82279	CRB1	C	1229	S	C1229S	Pathogenic/Likely pathogenic	1	2	3	149
MUT:CRB1:Cys1238Arg	PROT:P82279	CRB1	C	1238	R	C1238R	Likely pathogenic	1	1	3	140
MUT:CRB1:Cys1285Arg	PROT:P82279	CRB1	C	1285	R	C1285R	Likely pathogenic	1	1	3	93
MUT:CRB1:Cys1285Tyr	PROT:P82279	CRB1	C	1285	Y	C1285Y	Likely pathogenic	1	1	3	93
MUT:CRB1:Cys1294Tyr	PROT:P82279	CRB1	C	1294	Y	C1294Y	Pathogenic/Likely pathogenic	1	1	3	84
MUT:CRB1:Cys1312Ser	PROT:P82279	CRB1	C	1312	S	C1312S	Pathogenic	1	1	3	66
MUT:CRB1:Cys1321Gly	PROT:P82279	CRB1	C	1321	G	C1321G	Likely pathogenic	1	4	3	57
MUT:CRB1:Cys1321Ser	PROT:P82279	CRB1	C	1321	S	C1321S	Likely pathogenic	1	1	3	57
MUT:CRB1:Cys134Phe	PROT:P82279	CRB1	C	134	F	C134F	Likely pathogenic	1	1	3	577
MUT:CRB1:Cys152Tyr	PROT:P82279	CRB1	C	152	Y	C152Y	Pathogenic/Likely pathogenic	1	5	3	559
MUT:CRB1:Cys163Phe	PROT:P82279	CRB1	C	163	F	C163F	Likely pathogenic	1	1	3	548
MUT:CRB1:Cys183Tyr	PROT:P82279	CRB1	C	183	Y	C183Y	Likely pathogenic	1	2	3	528
MUT:CRB1:Cys190Arg	PROT:P82279	CRB1	C	190	R	C190R	Likely pathogenic	1	1	3	521
MUT:CRB1:Cys195Phe	PROT:P82279	CRB1	C	195	F	C195F	Pathogenic/Likely pathogenic	1	6	3	516
MUT:CRB1:Cys195Trp	PROT:P82279	CRB1	C	195	W	C195W	Likely pathogenic	1	1	3	516
MUT:CRB1:Cys201Arg	PROT:P82279	CRB1	C	201	R	C201R	Likely pathogenic	1	1	3	510
MUT:CRB1:Cys201Ser	PROT:P82279	CRB1	C	201	S	C201S	Likely pathogenic	1	1	3	510
MUT:CRB1:Cys27Phe	PROT:P82279	CRB1	C	27	F	C27F	Pathogenic/Likely pathogenic	1	4	3	684
MUT:CRB1:Cys27Ser	PROT:P82279	CRB1	C	27	S	C27S	Pathogenic	1	1	3	684
MUT:CRB1:Cys310Tyr	PROT:P82279	CRB1	C	310	Y	C310Y	Likely pathogenic	1	1	3	401
MUT:CRB1:Cys325Tyr	PROT:P82279	CRB1	C	325	Y	C325Y	Likely pathogenic	1	1	3	386
MUT:CRB1:Cys348Tyr	PROT:P82279	CRB1	C	348	Y	C348Y	Likely pathogenic	1	1	3	363
MUT:CRB1:Cys383Tyr	PROT:P82279	CRB1	C	383	Y	C383Y	Pathogenic/Likely pathogenic	1	5	3	328
MUT:CRB1:Cys394Arg	PROT:P82279	CRB1	C	394	R	C394R	Pathogenic	1	2	3	317
MUT:CRB1:Cys423Gly	PROT:P82279	CRB1	C	423	G	C423G	Likely pathogenic	1	1	3	288
MUT:CRB1:Cys450Arg	PROT:P82279	CRB1	C	450	R	C450R	Likely pathogenic	1	4	3	261
MUT:CRB1:Cys450Ser	PROT:P82279	CRB1	C	450	S	C450S	Likely pathogenic	1	1	3	261
MUT:CRB1:Cys450Tyr	PROT:P82279	CRB1	C	450	Y	C450Y	Pathogenic/Likely pathogenic	1	2	3	261
MUT:CRB1:Cys480Arg	PROT:P82279	CRB1	C	480	R	C480R	Pathogenic/Likely pathogenic	1	5	3	231
MUT:CRB1:Cys480Ser	PROT:P82279	CRB1	C	480	S	C480S	Pathogenic/Likely pathogenic	1	1	3	231
MUT:CRB1:Cys681Tyr	PROT:P82279	CRB1	C	681	Y	C681Y	Pathogenic/Likely pathogenic	1	4	3	30
MUT:CRB1:Cys696Arg	PROT:P82279	CRB1	C	696	R	C696R	Pathogenic/Likely pathogenic	1	1	3	15
MUT:CRB1:Cys696Ser	PROT:P82279	CRB1	C	696	S	C696S	Likely pathogenic	1	1	3	15
MUT:CRB1:Cys707Phe	PROT:P82279	CRB1	C	707	F	C707F	Likely pathogenic	1	1	3	4
MUT:CRB1:Cys891Gly	PROT:P82279	CRB1	C	891	G	C891G	Likely pathogenic	1	1	3	131
MUT:CRB1:Cys896Ser	PROT:P82279	CRB1	C	896	S	C896S	Likely pathogenic	1	1	3	136
MUT:CRB1:Cys928Arg	PROT:P82279	CRB1	C	928	R	C928R	Likely pathogenic	1	2	3	168
MUT:CRB1:Cys939Gly	PROT:P82279	CRB1	C	939	G	C939G	Pathogenic/Likely pathogenic	1	1	3	179
MUT:CRB1:Cys948Arg	PROT:P82279	CRB1	C	948	R	C948R	Pathogenic	1	8	3	188
MUT:CRB1:Cys948Tyr	PROT:P82279	CRB1	C	948	Y	C948Y	Pathogenic	1	9	3	188
MUT:CRB1:Cys96Tyr	PROT:P82279	CRB1	C	96	Y	C96Y	Likely benign	0	1	3	615
MUT:CRB1:Gln158His	PROT:P82279	CRB1	Q	158	H	Q158H	Likely benign	0	1	3	553
MUT:CRB1:Gln386Pro	PROT:P82279	CRB1	Q	386	P	Q386P	Likely benign	0	1	3	325
MUT:CRB1:Glu1403Asp	PROT:P82279	CRB1	E	1403	D	E1403D	Likely pathogenic	1	1	3	25
MUT:CRB1:Glu1403Gln	PROT:P82279	CRB1	E	1403	Q	E1403Q	Pathogenic/Likely pathogenic	1	1	3	25
MUT:CRB1:Glu710Gln	PROT:P82279	CRB1	E	710	Q	E710Q	Pathogenic	1	1	3	1
MUT:CRB1:Glu710Val	PROT:P82279	CRB1	E	710	V	E710V	Pathogenic/Likely pathogenic	1	5	3	1
MUT:CRB1:Glu993Lys	PROT:P82279	CRB1	E	993	K	E993K	Likely benign	0	5	3	233
MUT:CRB1:Gly1103Arg	PROT:P82279	CRB1	G	1103	R	G1103R	Pathogenic	1	6	3	275
MUT:CRB1:Gly1103Val	PROT:P82279	CRB1	G	1103	V	G1103V	Likely pathogenic	1	1	3	275
MUT:CRB1:Gly1104Asp	PROT:P82279	CRB1	G	1104	D	G1104D	Likely pathogenic	1	1	3	274
MUT:CRB1:Gly1288Ser	PROT:P82279	CRB1	G	1288	S	G1288S	Pathogenic/Likely pathogenic	1	4	3	90
MUT:CRB1:Gly333Arg	PROT:P82279	CRB1	G	333	R	G333R	Pathogenic/Likely pathogenic	1	2	3	378
MUT:CRB1:Gly333Asp	PROT:P82279	CRB1	G	333	D	G333D	Pathogenic	1	1	3	378
MUT:CRB1:Gly410Asp	PROT:P82279	CRB1	G	410	D	G410D	Likely pathogenic	1	1	3	301
MUT:CRB1:Gly474Asp	PROT:P82279	CRB1	G	474	D	G474D	Likely pathogenic	1	1	3	237
MUT:CRB1:Gly477Arg	PROT:P82279	CRB1	G	477	R	G477R	Pathogenic/Likely pathogenic	1	7	3	234
MUT:CRB1:Gly614Val	PROT:P82279	CRB1	G	614	V	G614V	Pathogenic/Likely pathogenic	1	5	3	97
MUT:CRB1:Gly615Ser	PROT:P82279	CRB1	G	615	S	G615S	Likely pathogenic	1	1	3	96
MUT:CRB1:Gly615Val	PROT:P82279	CRB1	G	615	V	G615V	Pathogenic/Likely pathogenic	1	4	3	96
MUT:CRB1:Gly685Ala	PROT:P82279	CRB1	G	685	A	G685A	Likely pathogenic	1	1	3	26
MUT:CRB1:Gly723Asp	PROT:P82279	CRB1	G	723	D	G723D	Likely pathogenic	1	1	3	12
MUT:CRB1:Gly750Asp	PROT:P82279	CRB1	G	750	D	G750D	Likely pathogenic	1	1	3	10
MUT:CRB1:Gly750Val	PROT:P82279	CRB1	G	750	V	G750V	Pathogenic/Likely pathogenic	1	2	3	10
MUT:CRB1:Gly770Arg	PROT:P82279	CRB1	G	770	R	G770R	Likely pathogenic	1	1	3	10
MUT:CRB1:Gly770Ser	PROT:P82279	CRB1	G	770	S	G770S	Pathogenic/Likely pathogenic	1	5	3	10
MUT:CRB1:Gly833Arg	PROT:P82279	CRB1	G	833	R	G833R	Pathogenic/Likely pathogenic	1	4	3	73
MUT:CRB1:Gly833Asp	PROT:P82279	CRB1	G	833	D	G833D	Pathogenic/Likely pathogenic	1	4	3	73
MUT:CRB1:Gly834Asp	PROT:P82279	CRB1	G	834	D	G834D	Pathogenic/Likely pathogenic	1	4	3	74
MUT:CRB1:Gly846Arg	PROT:P82279	CRB1	G	846	R	G846R	Pathogenic/Likely pathogenic	1	1	3	86
MUT:CRB1:Gly850Ala	PROT:P82279	CRB1	G	850	A	G850A	Likely pathogenic	1	1	3	90
MUT:CRB1:Gly850Ser	PROT:P82279	CRB1	G	850	S	G850S	Pathogenic	1	3	3	90
MUT:CRB1:Gly850Val	PROT:P82279	CRB1	G	850	V	G850V	Pathogenic/Likely pathogenic	1	1	3	90
MUT:CRB1:Ile1003Thr	PROT:P82279	CRB1	I	1003	T	I1003T	Likely pathogenic	1	1	3	243
MUT:CRB1:Ile1100Thr	PROT:P82279	CRB1	I	1100	T	I1100T	Pathogenic/Likely pathogenic	1	4	3	278
MUT:CRB1:Ile1102Ser	PROT:P82279	CRB1	I	1102	S	I1102S	Likely pathogenic	1	1	3	276
MUT:CRB1:Ile1358Asn	PROT:P82279	CRB1	I	1358	N	I1358N	Likely pathogenic	1	1	3	20
MUT:CRB1:Ile558Thr	PROT:P82279	CRB1	I	558	T	I558T	Likely pathogenic	1	1	3	153
MUT:CRB1:Ile852Thr	PROT:P82279	CRB1	I	852	T	I852T	Pathogenic/Likely pathogenic	1	4	3	92
MUT:CRB1:Leu1074Ser	PROT:P82279	CRB1	L	1074	S	L1074S	Pathogenic/Likely pathogenic	1	2	3	304
MUT:CRB1:Leu1107Arg	PROT:P82279	CRB1	L	1107	R	L1107R	Pathogenic	1	1	3	271
MUT:CRB1:Leu1107Pro	PROT:P82279	CRB1	L	1107	P	L1107P	Pathogenic/Likely pathogenic	1	5	3	271
MUT:CRB1:Leu369Pro	PROT:P82279	CRB1	L	369	P	L369P	Likely pathogenic	1	1	3	342
MUT:CRB1:Leu479Pro	PROT:P82279	CRB1	L	479	P	L479P	Pathogenic/Likely pathogenic	1	5	3	232
MUT:CRB1:Leu556Pro	PROT:P82279	CRB1	L	556	P	L556P	Likely pathogenic	1	1	3	155
MUT:CRB1:Leu599Phe	PROT:P82279	CRB1	L	599	F	L599F	Likely benign	0	1	3	112
MUT:CRB1:Leu788Pro	PROT:P82279	CRB1	L	788	P	L788P	Likely pathogenic	1	1	3	28
MUT:CRB1:Leu807Arg	PROT:P82279	CRB1	L	807	R	L807R	Likely pathogenic	1	1	3	47
MUT:CRB1:Leu862Arg	PROT:P82279	CRB1	L	862	R	L862R	Likely pathogenic	1	1	3	102
MUT:CRB1:Lys673Glu	PROT:P82279	CRB1	K	673	E	K673E	Likely pathogenic	1	1	3	38
MUT:CRB1:Met1041Thr	PROT:P82279	CRB1	M	1041	T	M1041T	Pathogenic	1	6	3	281
MUT:CRB1:Met1041Val	PROT:P82279	CRB1	M	1041	V	M1041V	Pathogenic/Likely pathogenic	1	3	3	281
MUT:CRB1:Met1Val	PROT:P82279	CRB1	M	1	V	M1V	Likely pathogenic	1	1	3	710
MUT:CRB1:Met741Thr	PROT:P82279	CRB1	M	741	T	M741T	Pathogenic/Likely pathogenic	1	4	3	19
MUT:CRB1:Phe847Ser	PROT:P82279	CRB1	F	847	S	F847S	Likely pathogenic	1	1	3	87
MUT:CRB1:Pro1305Leu	PROT:P82279	CRB1	P	1305	L	P1305L	Pathogenic/Likely pathogenic	1	2	3	73
MUT:CRB1:Pro1381Arg	PROT:P82279	CRB1	P	1381	R	P1381R	Likely pathogenic	1	2	3	3
MUT:CRB1:Pro1381Leu	PROT:P82279	CRB1	P	1381	L	P1381L	Pathogenic	1	4	3	3
MUT:CRB1:Pro1381Thr	PROT:P82279	CRB1	P	1381	T	P1381T	Pathogenic	1	1	3	3
MUT:CRB1:Pro519Gln	PROT:P82279	CRB1	P	519	Q	P519Q	Likely pathogenic	1	1	3	192
MUT:CRB1:Pro836Thr	PROT:P82279	CRB1	P	836	T	P836T	Pathogenic/Likely pathogenic	1	8	3	76
MUT:CRB1:Ser1006Phe	PROT:P82279	CRB1	S	1006	F	S1006F	Pathogenic/Likely pathogenic	1	1	3	246
MUT:CRB1:Ser1006Tyr	PROT:P82279	CRB1	S	1006	Y	S1006Y	Pathogenic/Likely pathogenic	1	3	3	246
MUT:CRB1:Ser1025Asn	PROT:P82279	CRB1	S	1025	N	S1025N	Pathogenic/Likely pathogenic	1	3	3	265
MUT:CRB1:Ser1025Ile	PROT:P82279	CRB1	S	1025	I	S1025I	Likely pathogenic	1	1	3	265
MUT:CRB1:Ser1049Pro	PROT:P82279	CRB1	S	1049	P	S1049P	Likely pathogenic	1	1	3	289
MUT:CRB1:Ser359Ala	PROT:P82279	CRB1	S	359	A	S359A	Likely benign	0	5	3	352
MUT:CRB1:Ser487Pro	PROT:P82279	CRB1	S	487	P	S487P	Pathogenic/Likely pathogenic	1	3	3	224
MUT:CRB1:Ser539Arg	PROT:P82279	CRB1	S	539	R	S539R	Pathogenic	1	1	3	172
MUT:CRB1:Ser611Pro	PROT:P82279	CRB1	S	611	P	S611P	Pathogenic/Likely pathogenic	1	4	3	100
MUT:CRB1:Ser638Leu	PROT:P82279	CRB1	S	638	L	S638L	Pathogenic/Likely pathogenic	1	2	3	73
MUT:CRB1:Ser740Phe	PROT:P82279	CRB1	S	740	F	S740F	Likely pathogenic	1	1	3	20
MUT:CRB1:Thr1347Ala	PROT:P82279	CRB1	T	1347	A	T1347A	Likely benign	0	1	3	31
MUT:CRB1:Thr289Met	PROT:P82279	CRB1	T	289	M	T289M	Likely benign	0	5	3	422
MUT:CRB1:Thr745Lys	PROT:P82279	CRB1	T	745	K	T745K	Pathogenic/Likely pathogenic	1	2	3	15
MUT:CRB1:Thr745Met	PROT:P82279	CRB1	T	745	M	T745M	Pathogenic/Likely pathogenic	1	7	3	15
MUT:CRB1:Tyr702Cys	PROT:P82279	CRB1	Y	702	C	Y702C	Pathogenic/Likely pathogenic	1	2	3	9
MUT:CRB1:Tyr724Cys	PROT:P82279	CRB1	Y	724	C	Y724C	Pathogenic/Likely pathogenic	1	5	3	13
MUT:CRB1:Val1055Glu	PROT:P82279	CRB1	V	1055	E	V1055E	Likely pathogenic	1	1	3	295
MUT:CRB1:Val1334Leu	PROT:P82279	CRB1	V	1334	L	V1334L	Likely benign	0	1	3	44
MUT:CRB1:Val666Asp	PROT:P82279	CRB1	V	666	D	V666D	Pathogenic	1	1	3	45
MUT:CRB1:Val743Leu	PROT:P82279	CRB1	V	743	L	V743L	Likely pathogenic	1	2	3	17
MUT:CRB1:Val855Ile	PROT:P82279	CRB1	V	855	I	V855I	Likely benign	0	1	3	95
MUT:CRB1:Val901Phe	PROT:P82279	CRB1	V	901	F	V901F	Likely pathogenic	1	2	3	141
MUT:CRBN:Ala11Thr	PROT:Q96SW2	CRBN	A	11	T	A11T	Likely benign	0	1	6	105
MUT:CRBN:Asn367Ile	PROT:Q96SW2	CRBN	N	367	I	N367I	Likely pathogenic	1	1	6	43
MUT:CRBN:Cys391Arg	PROT:Q96SW2	CRBN	C	391	R	C391R	Likely pathogenic	1	1	6	19
MUT:CRBN:Thr425Met	PROT:Q96SW2	CRBN	T	425	M	T425M	Likely benign	0	1	6	9
MUT:CRBN:Tyr221Cys	PROT:Q96SW2	CRBN	Y	221	C	Y221C	Likely benign	0	1	6	47
MUT:CRBN:Val197Ile	PROT:Q96SW2	CRBN	V	197	I	V197I	Likely benign	0	1	6	23
MUT:CREB3L1:Ala118Val	PROT:Q96BA8	CREB3L1	A	118	V	A118V	Likely benign	0	1	1	183
MUT:CREB3L1:Ala152Thr	PROT:Q96BA8	CREB3L1	A	152	T	A152T	Benign/Likely benign	0	1	1	149
MUT:CREB3L1:Ala304Val	PROT:Q96BA8	CREB3L1	A	304	V	A304V	Pathogenic	1	1	1	3
MUT:CREB3L1:Gly373Arg	PROT:Q96BA8	CREB3L1	G	373	R	G373R	Benign/Likely benign	0	1	1	72
MUT:CREB3L1:Gly400Ser	PROT:Q96BA8	CREB3L1	G	400	S	G400S	Likely benign	0	1	1	99
MUT:CREB3L1:Gly413Ser	PROT:Q96BA8	CREB3L1	G	413	S	G413S	Likely benign	0	1	1	112
MUT:CREB3L1:Leu442Arg	PROT:Q96BA8	CREB3L1	L	442	R	L442R	Benign	0	2	1	141
MUT:CREB3L1:Met445Val	PROT:Q96BA8	CREB3L1	M	445	V	M445V	Benign/Likely benign	0	1	1	144
MUT:CREB3L1:Pro144Ser	PROT:Q96BA8	CREB3L1	P	144	S	P144S	Likely benign	0	1	1	157
MUT:CREB3L1:Thr155Pro	PROT:Q96BA8	CREB3L1	T	155	P	T155P	Likely benign	0	1	1	146
MUT:CREB3L3:Asp182Asn	PROT:Q68CJ9	CREB3L3	D	182	N	D182N	Benign/Likely benign	0	2	5	9
MUT:CREB3L3:Gly105Arg	PROT:Q68CJ9	CREB3L3	G	105	R	G105R	Benign	0	1	5	68
MUT:CREB3L3:Leu234Val	PROT:Q68CJ9	CREB3L3	L	234	V	L234V	Benign	0	1	5	9
MUT:CREBBP:Ala1003Gly	PROT:Q92793	CREBBP	A	1003	G	A1003G	Benign	0	2	70	2
MUT:CREBBP:Ala1164Pro	PROT:Q92793	CREBBP	A	1164	P	A1164P	Likely pathogenic	1	2	70	7
MUT:CREBBP:Ala138Thr	PROT:Q92793	CREBBP	A	138	T	A138T	Benign/Likely benign	0	2	70	14
MUT:CREBBP:Ala146Pro	PROT:Q92793	CREBBP	A	146	P	A146P	Likely benign	0	1	70	22
MUT:CREBBP:Ala146Thr	PROT:Q92793	CREBBP	A	146	T	A146T	Likely benign	0	2	70	22
MUT:CREBBP:Ala1473Thr	PROT:Q92793	CREBBP	A	1473	T	A1473T	Likely pathogenic	1	1	70	23
MUT:CREBBP:Ala1782Thr	PROT:Q92793	CREBBP	A	1782	T	A1782T	Likely pathogenic	1	1	70	9
MUT:CREBBP:Ala1782Val	PROT:Q92793	CREBBP	A	1782	V	A1782V	Pathogenic/Likely pathogenic	1	1	70	9
MUT:CREBBP:Ala1870Pro	PROT:Q92793	CREBBP	A	1870	P	A1870P	Likely pathogenic	1	1	70	1
MUT:CREBBP:Ala1949Thr	PROT:Q92793	CREBBP	A	1949	T	A1949T	Benign	0	1	70	75
MUT:CREBBP:Ala2044Thr	PROT:Q92793	CREBBP	A	2044	T	A2044T	Likely benign	0	1	70	19
MUT:CREBBP:Ala2183Val	PROT:Q92793	CREBBP	A	2183	V	A2183V	Likely benign	0	2	70	81
MUT:CREBBP:Ala2219Val	PROT:Q92793	CREBBP	A	2219	V	A2219V	Benign/Likely benign	0	2	70	103
MUT:CREBBP:Ala2226Gly	PROT:Q92793	CREBBP	A	2226	G	A2226G	Likely benign	0	1	70	96
MUT:CREBBP:Ala2243Val	PROT:Q92793	CREBBP	A	2243	V	A2243V	Benign/Likely benign	0	1	70	79
MUT:CREBBP:Ala2265Val	PROT:Q92793	CREBBP	A	2265	V	A2265V	Benign/Likely benign	0	2	70	57
MUT:CREBBP:Ala234Val	PROT:Q92793	CREBBP	A	234	V	A234V	Likely benign	0	2	70	68
MUT:CREBBP:Ala2419Thr	PROT:Q92793	CREBBP	A	2419	T	A2419T	Benign/Likely benign	0	1	70	3
MUT:CREBBP:Ala2419Val	PROT:Q92793	CREBBP	A	2419	V	A2419V	Benign/Likely benign	0	2	70	3
MUT:CREBBP:Ala254Thr	PROT:Q92793	CREBBP	A	254	T	A254T	Benign/Likely benign	0	2	70	48
MUT:CREBBP:Ala254Val	PROT:Q92793	CREBBP	A	254	V	A254V	Likely benign	0	2	70	48
MUT:CREBBP:Ala261Val	PROT:Q92793	CREBBP	A	261	V	A261V	Likely benign	0	1	70	41
MUT:CREBBP:Ala364Pro	PROT:Q92793	CREBBP	A	364	P	A364P	Likely benign	0	1	70	25
MUT:CREBBP:Ala467Thr	PROT:Q92793	CREBBP	A	467	T	A467T	Benign/Likely benign	0	2	70	78
MUT:CREBBP:Ala644Pro	PROT:Q92793	CREBBP	A	644	P	A644P	Likely pathogenic	1	1	70	13
MUT:CREBBP:Ala690Ser	PROT:Q92793	CREBBP	A	690	S	A690S	Benign/Likely benign	0	2	70	31
MUT:CREBBP:Ala763Ser	PROT:Q92793	CREBBP	A	763	S	A763S	Benign	0	1	70	104
MUT:CREBBP:Ala805Thr	PROT:Q92793	CREBBP	A	805	T	A805T	Likely benign	0	3	70	146
MUT:CREBBP:Ala828Ser	PROT:Q92793	CREBBP	A	828	S	A828S	Benign/Likely benign	0	2	70	169
MUT:CREBBP:Ala860Val	PROT:Q92793	CREBBP	A	860	V	A860V	Likely benign	0	1	70	141
MUT:CREBBP:Ala883Ser	PROT:Q92793	CREBBP	A	883	S	A883S	Likely benign	0	1	70	118
MUT:CREBBP:Ala91Thr	PROT:Q92793	CREBBP	A	91	T	A91T	Likely benign	0	1	70	2
MUT:CREBBP:Ala981Thr	PROT:Q92793	CREBBP	A	981	T	A981T	Benign	0	2	70	20
MUT:CREBBP:Ala981Val	PROT:Q92793	CREBBP	A	981	V	A981V	Benign	0	1	70	20
MUT:CREBBP:Arg1233Lys	PROT:Q92793	CREBBP	R	1233	K	R1233K	Pathogenic/Likely pathogenic	1	2	70	30
MUT:CREBBP:Arg1341Pro	PROT:Q92793	CREBBP	R	1341	P	R1341P	Likely pathogenic	1	1	70	35
MUT:CREBBP:Arg1347Pro	PROT:Q92793	CREBBP	R	1347	P	R1347P	Likely pathogenic	1	1	70	29
MUT:CREBBP:Arg1378Gln	PROT:Q92793	CREBBP	R	1378	Q	R1378Q	Pathogenic	1	2	70	2
MUT:CREBBP:Arg1378Pro	PROT:Q92793	CREBBP	R	1378	P	R1378P	Likely pathogenic	1	2	70	2
MUT:CREBBP:Arg1392Leu	PROT:Q92793	CREBBP	R	1392	L	R1392L	Likely pathogenic	1	1	70	1
MUT:CREBBP:Arg1427Ser	PROT:Q92793	CREBBP	R	1427	S	R1427S	Likely pathogenic	1	1	70	23
MUT:CREBBP:Arg1428Pro	PROT:Q92793	CREBBP	R	1428	P	R1428P	Likely pathogenic	1	1	70	22
MUT:CREBBP:Arg1441Trp	PROT:Q92793	CREBBP	R	1441	W	R1441W	Likely benign	0	1	70	9
MUT:CREBBP:Arg1446His	PROT:Q92793	CREBBP	R	1446	H	R1446H	Likely pathogenic	1	1	70	4
MUT:CREBBP:Arg1498Gln	PROT:Q92793	CREBBP	R	1498	Q	R1498Q	Likely pathogenic	1	1	70	26
MUT:CREBBP:Arg1664His	PROT:Q92793	CREBBP	R	1664	H	R1664H	Likely pathogenic	1	1	70	5
MUT:CREBBP:Arg1664Leu	PROT:Q92793	CREBBP	R	1664	L	R1664L	Likely pathogenic	1	1	70	5
MUT:CREBBP:Arg1786Cys	PROT:Q92793	CREBBP	R	1786	C	R1786C	Pathogenic/Likely pathogenic	1	1	70	5
MUT:CREBBP:Arg1786Gly	PROT:Q92793	CREBBP	R	1786	G	R1786G	Likely pathogenic	1	1	70	5
MUT:CREBBP:Arg1786His	PROT:Q92793	CREBBP	R	1786	H	R1786H	Pathogenic/Likely pathogenic	1	1	70	5
MUT:CREBBP:Arg1786Pro	PROT:Q92793	CREBBP	R	1786	P	R1786P	Likely pathogenic	1	1	70	5
MUT:CREBBP:Arg1867Gln	PROT:Q92793	CREBBP	R	1867	Q	R1867Q	Pathogenic/Likely pathogenic	1	2	70	4
MUT:CREBBP:Arg1867Trp	PROT:Q92793	CREBBP	R	1867	W	R1867W	Pathogenic/Likely pathogenic	1	1	70	4
MUT:CREBBP:Arg1868Gln	PROT:Q92793	CREBBP	R	1868	Q	R1868Q	Pathogenic/Likely pathogenic	1	2	70	3
MUT:CREBBP:Arg1868Trp	PROT:Q92793	CREBBP	R	1868	W	R1868W	Pathogenic	1	2	70	3
MUT:CREBBP:Arg1926Gly	PROT:Q92793	CREBBP	R	1926	G	R1926G	Benign/Likely benign	0	3	70	52
MUT:CREBBP:Arg2072Gln	PROT:Q92793	CREBBP	R	2072	Q	R2072Q	Likely benign	0	2	70	1
MUT:CREBBP:Arg2249Cys	PROT:Q92793	CREBBP	R	2249	C	R2249C	Likely benign	0	1	70	73
MUT:CREBBP:Arg2344Trp	PROT:Q92793	CREBBP	R	2344	W	R2344W	Likely benign	0	1	70	7
MUT:CREBBP:Arg601Trp	PROT:Q92793	CREBBP	R	601	W	R601W	Likely pathogenic	1	1	70	21
MUT:CREBBP:Arg742Pro	PROT:Q92793	CREBBP	R	742	P	R742P	Benign/Likely benign	0	2	70	83
MUT:CREBBP:Arg971Gly	PROT:Q92793	CREBBP	R	971	G	R971G	Benign	0	1	70	30
MUT:CREBBP:Asn1612Ser	PROT:Q92793	CREBBP	N	1612	S	N1612S	Benign/Likely benign	0	2	70	8
MUT:CREBBP:Asn1787Lys	PROT:Q92793	CREBBP	N	1787	K	N1787K	Pathogenic	1	1	70	4
MUT:CREBBP:Asn190Ser	PROT:Q92793	CREBBP	N	190	S	N190S	Likely benign	0	1	70	66
MUT:CREBBP:Asn1978Ser	PROT:Q92793	CREBBP	N	1978	S	N1978S	Benign/Likely benign	0	1	70	85
MUT:CREBBP:Asn2111Ser	PROT:Q92793	CREBBP	N	2111	S	N2111S	Benign/Likely benign	0	2	70	9
MUT:CREBBP:Asn2179Thr	PROT:Q92793	CREBBP	N	2179	T	N2179T	Likely benign	0	1	70	77
MUT:CREBBP:Asn321Ser	PROT:Q92793	CREBBP	N	321	S	N321S	Benign/Likely benign	0	1	70	19
MUT:CREBBP:Asn435Thr	PROT:Q92793	CREBBP	N	435	T	N435T	Likely benign	0	1	70	46
MUT:CREBBP:Asn522Ser	PROT:Q92793	CREBBP	N	522	S	N522S	Benign/Likely benign	0	2	70	100
MUT:CREBBP:Asn55Lys	PROT:Q92793	CREBBP	N	55	K	N55K	Likely benign	0	1	70	23
MUT:CREBBP:Asp1009Asn	PROT:Q92793	CREBBP	D	1009	N	D1009N	Benign	0	1	70	5
MUT:CREBBP:Asp1009Tyr	PROT:Q92793	CREBBP	D	1009	Y	D1009Y	Likely benign	0	2	70	5
MUT:CREBBP:Asp1224Asn	PROT:Q92793	CREBBP	D	1224	N	D1224N	Likely benign	0	1	70	21
MUT:CREBBP:Asp1309Asn	PROT:Q92793	CREBBP	D	1309	N	D1309N	Likely benign	0	1	70	67
MUT:CREBBP:Asp1403Gly	PROT:Q92793	CREBBP	D	1403	G	D1403G	Likely benign	0	1	70	12
MUT:CREBBP:Asp1435Glu	PROT:Q92793	CREBBP	D	1435	E	D1435E	Likely pathogenic	1	1	70	15
MUT:CREBBP:Asp1435Tyr	PROT:Q92793	CREBBP	D	1435	Y	D1435Y	Likely pathogenic	1	1	70	15
MUT:CREBBP:Asp1480Gly	PROT:Q92793	CREBBP	D	1480	G	D1480G	Pathogenic/Likely pathogenic	1	1	70	30
MUT:CREBBP:Cys1240Tyr	PROT:Q92793	CREBBP	C	1240	Y	C1240Y	Pathogenic/Likely pathogenic	1	2	70	37
MUT:CREBBP:Cys1294Trp	PROT:Q92793	CREBBP	C	1294	W	C1294W	Likely pathogenic	1	1	70	82
MUT:CREBBP:Cys1408Phe	PROT:Q92793	CREBBP	C	1408	F	C1408F	Likely pathogenic	1	1	70	17
MUT:CREBBP:Cys1421Phe	PROT:Q92793	CREBBP	C	1421	F	C1421F	Likely pathogenic	1	1	70	29
MUT:CREBBP:Cys1710Arg	PROT:Q92793	CREBBP	C	1710	R	C1710R	Pathogenic	1	1	70	1
MUT:CREBBP:Cys1710Ser	PROT:Q92793	CREBBP	C	1710	S	C1710S	Likely pathogenic	1	1	70	1
MUT:CREBBP:Cys1710Tyr	PROT:Q92793	CREBBP	C	1710	Y	C1710Y	Pathogenic	1	1	70	1
MUT:CREBBP:Cys1720Arg	PROT:Q92793	CREBBP	C	1720	R	C1720R	Pathogenic/Likely pathogenic	1	1	70	9
MUT:CREBBP:Cys1720Tyr	PROT:Q92793	CREBBP	C	1720	Y	C1720Y	Likely pathogenic	1	1	70	9
MUT:CREBBP:Cys1723Phe	PROT:Q92793	CREBBP	C	1723	F	C1723F	Likely pathogenic	1	1	70	12
MUT:CREBBP:Cys1723Trp	PROT:Q92793	CREBBP	C	1723	W	C1723W	Pathogenic/Likely pathogenic	1	2	70	12
MUT:CREBBP:Cys1729Arg	PROT:Q92793	CREBBP	C	1729	R	C1729R	Likely pathogenic	1	2	70	7
MUT:CREBBP:Cys1729Ser	PROT:Q92793	CREBBP	C	1729	S	C1729S	Likely pathogenic	1	1	70	7
MUT:CREBBP:Cys1729Tyr	PROT:Q92793	CREBBP	C	1729	Y	C1729Y	Likely pathogenic	1	1	70	7
MUT:CREBBP:Cys176Ser	PROT:Q92793	CREBBP	C	176	S	C176S	Likely benign	0	1	70	52
MUT:CREBBP:Cys1783Phe	PROT:Q92793	CREBBP	C	1783	F	C1783F	Likely pathogenic	1	1	70	8
MUT:CREBBP:Cys1790Arg	PROT:Q92793	CREBBP	C	1790	R	C1790R	Pathogenic	1	1	70	1
MUT:CREBBP:Gln1231Glu	PROT:Q92793	CREBBP	Q	1231	E	Q1231E	Likely benign	0	1	70	28
MUT:CREBBP:Gln1491Lys	PROT:Q92793	CREBBP	Q	1491	K	Q1491K	Likely pathogenic	1	1	70	33
MUT:CREBBP:Gln1579Glu	PROT:Q92793	CREBBP	Q	1579	E	Q1579E	Likely benign	0	2	70	16
MUT:CREBBP:Gln1853Pro	PROT:Q92793	CREBBP	Q	1853	P	Q1853P	Pathogenic/Likely pathogenic	1	1	70	16
MUT:CREBBP:Gln1854Pro	PROT:Q92793	CREBBP	Q	1854	P	Q1854P	Likely pathogenic	1	1	70	17
MUT:CREBBP:Gln2140Arg	PROT:Q92793	CREBBP	Q	2140	R	Q2140R	Likely benign	0	1	70	38
MUT:CREBBP:Gln2203Glu	PROT:Q92793	CREBBP	Q	2203	E	Q2203E	Likely benign	0	1	70	101
MUT:CREBBP:Gln2208His	PROT:Q92793	CREBBP	Q	2208	H	Q2208H	Benign/Likely benign	0	1	70	106
MUT:CREBBP:Gln2210His	PROT:Q92793	CREBBP	Q	2210	H	Q2210H	Likely benign	0	1	70	108
MUT:CREBBP:Gln2334His	PROT:Q92793	CREBBP	Q	2334	H	Q2334H	Likely benign	0	1	70	12
MUT:CREBBP:Gln278Pro	PROT:Q92793	CREBBP	Q	278	P	Q278P	Benign/Likely benign	0	2	70	24
MUT:CREBBP:Gln503His	PROT:Q92793	CREBBP	Q	503	H	Q503H	Benign/Likely benign	0	1	70	114
MUT:CREBBP:Gln881His	PROT:Q92793	CREBBP	Q	881	H	Q881H	Benign	0	1	70	120
MUT:CREBBP:Gln943Arg	PROT:Q92793	CREBBP	Q	943	R	Q943R	Benign	0	1	70	58
MUT:CREBBP:Glu1007Asp	PROT:Q92793	CREBBP	E	1007	D	E1007D	Benign/Likely benign	0	2	70	6
MUT:CREBBP:Glu1012Asp	PROT:Q92793	CREBBP	E	1012	D	E1012D	Likely benign	0	1	70	2
MUT:CREBBP:Glu1016Asp	PROT:Q92793	CREBBP	E	1016	D	E1016D	Likely benign	0	1	70	2
MUT:CREBBP:Glu1278Gln	PROT:Q92793	CREBBP	E	1278	Q	E1278Q	Likely pathogenic	1	1	70	75
MUT:CREBBP:Glu1278Lys	PROT:Q92793	CREBBP	E	1278	K	E1278K	Pathogenic/Likely pathogenic	1	5	70	75
MUT:CREBBP:Glu1459Gly	PROT:Q92793	CREBBP	E	1459	G	E1459G	Likely pathogenic	1	1	70	9
MUT:CREBBP:Glu1724Lys	PROT:Q92793	CREBBP	E	1724	K	E1724K	Pathogenic	1	1	70	12
MUT:CREBBP:Glu1963Lys	PROT:Q92793	CREBBP	E	1963	K	E1963K	Likely benign	0	1	70	89
MUT:CREBBP:Glu642Lys	PROT:Q92793	CREBBP	E	642	K	E642K	Likely benign	0	1	70	15
MUT:CREBBP:Glu72Asp	PROT:Q92793	CREBBP	E	72	D	E72D	Benign/Likely benign	0	2	70	6
MUT:CREBBP:Gly1069Ser	PROT:Q92793	CREBBP	G	1069	S	G1069S	Benign	0	2	70	1
MUT:CREBBP:Gly1316Ser	PROT:Q92793	CREBBP	G	1316	S	G1316S	Likely benign	0	2	70	60
MUT:CREBBP:Gly1355Arg	PROT:Q92793	CREBBP	G	1355	R	G1355R	Likely benign	0	1	70	21
MUT:CREBBP:Gly1465Glu	PROT:Q92793	CREBBP	G	1465	E	G1465E	Pathogenic	1	2	70	15
MUT:CREBBP:Gly1746Val	PROT:Q92793	CREBBP	G	1746	V	G1746V	Likely pathogenic	1	1	70	2
MUT:CREBBP:Gly2126Cys	PROT:Q92793	CREBBP	G	2126	C	G2126C	Likely benign	0	1	70	24
MUT:CREBBP:Gly2224Ala	PROT:Q92793	CREBBP	G	2224	A	G2224A	Likely benign	0	1	70	98
MUT:CREBBP:Gly2229Ser	PROT:Q92793	CREBBP	G	2229	S	G2229S	Benign/Likely benign	0	1	70	93
MUT:CREBBP:Gly2238Arg	PROT:Q92793	CREBBP	G	2238	R	G2238R	Benign	0	1	70	84
MUT:CREBBP:Gly268Val	PROT:Q92793	CREBBP	G	268	V	G268V	Benign	0	1	70	34
MUT:CREBBP:Gly292Val	PROT:Q92793	CREBBP	G	292	V	G292V	Benign	0	2	70	10
MUT:CREBBP:Gly333Glu	PROT:Q92793	CREBBP	G	333	E	G333E	Likely benign	0	1	70	31
MUT:CREBBP:Gly587Ser	PROT:Q92793	CREBBP	G	587	S	G587S	Benign	0	1	70	35
MUT:CREBBP:Gly876Arg	PROT:Q92793	CREBBP	G	876	R	G876R	Likely benign	0	2	70	125
MUT:CREBBP:Gly98Val	PROT:Q92793	CREBBP	G	98	V	G98V	Benign/Likely benign	0	1	70	5
MUT:CREBBP:His1470Arg	PROT:Q92793	CREBBP	H	1470	R	H1470R	Pathogenic	1	1	70	20
MUT:CREBBP:His1470Pro	PROT:Q92793	CREBBP	H	1470	P	H1470P	Pathogenic	1	1	70	20
MUT:CREBBP:His1487Arg	PROT:Q92793	CREBBP	H	1487	R	H1487R	Likely pathogenic	1	1	70	37
MUT:CREBBP:His1487Pro	PROT:Q92793	CREBBP	H	1487	P	H1487P	Likely pathogenic	1	1	70	37
MUT:CREBBP:His1804Gln	PROT:Q92793	CREBBP	H	1804	Q	H1804Q	Likely pathogenic	1	1	70	5
MUT:CREBBP:His253Arg	PROT:Q92793	CREBBP	H	253	R	H253R	Likely benign	0	1	70	49
MUT:CREBBP:His365Pro	PROT:Q92793	CREBBP	H	365	P	H365P	Likely pathogenic	1	1	70	24
MUT:CREBBP:His854Pro	PROT:Q92793	CREBBP	H	854	P	H854P	Likely benign	0	1	70	147
MUT:CREBBP:Ile1038Thr	PROT:Q92793	CREBBP	I	1038	T	I1038T	Likely benign	0	1	70	4
MUT:CREBBP:Ile1649Leu	PROT:Q92793	CREBBP	I	1649	L	I1649L	Likely benign	0	1	70	20
MUT:CREBBP:Ile1730Val	PROT:Q92793	CREBBP	I	1730	V	I1730V	Likely benign	0	2	70	6
MUT:CREBBP:Ile314Thr	PROT:Q92793	CREBBP	I	314	T	I314T	Likely benign	0	1	70	12
MUT:CREBBP:Leu1142Pro	PROT:Q92793	CREBBP	L	1142	P	L1142P	Pathogenic	1	1	70	17
MUT:CREBBP:Leu1499Val	PROT:Q92793	CREBBP	L	1499	V	L1499V	Pathogenic	1	1	70	25
MUT:CREBBP:Leu151Val	PROT:Q92793	CREBBP	L	151	V	L151V	Likely benign	0	1	70	27
MUT:CREBBP:Leu1747Arg	PROT:Q92793	CREBBP	L	1747	R	L1747R	Likely pathogenic	1	1	70	3
MUT:CREBBP:Leu1779Pro	PROT:Q92793	CREBBP	L	1779	P	L1779P	Pathogenic/Likely pathogenic	1	1	70	8
MUT:CREBBP:Leu2121Phe	PROT:Q92793	CREBBP	L	2121	F	L2121F	Benign	0	1	70	19
MUT:CREBBP:Leu2256Val	PROT:Q92793	CREBBP	L	2256	V	L2256V	Benign	0	1	70	66
MUT:CREBBP:Leu608Pro	PROT:Q92793	CREBBP	L	608	P	L608P	Likely pathogenic	1	2	70	14
MUT:CREBBP:Leu833Phe	PROT:Q92793	CREBBP	L	833	F	L833F	Likely benign	0	1	70	168
MUT:CREBBP:Leu843Val	PROT:Q92793	CREBBP	L	843	V	L843V	Benign	0	1	70	158
MUT:CREBBP:Lys13Glu	PROT:Q92793	CREBBP	K	13	E	K13E	Likely pathogenic	1	1	70	0
MUT:CREBBP:Lys1492Glu	PROT:Q92793	CREBBP	K	1492	E	K1492E	Likely pathogenic	1	1	70	32
MUT:CREBBP:Lys1520Arg	PROT:Q92793	CREBBP	K	1520	R	K1520R	Pathogenic	1	1	70	4
MUT:CREBBP:Lys434Ile	PROT:Q92793	CREBBP	K	434	I	K434I	Likely pathogenic	1	1	70	45
MUT:CREBBP:Met1385Lys	PROT:Q92793	CREBBP	M	1385	K	M1385K	Likely pathogenic	1	1	70	1
MUT:CREBBP:Met1610Ile	PROT:Q92793	CREBBP	M	1610	I	M1610I	Benign	0	1	70	10
MUT:CREBBP:Met1742Val	PROT:Q92793	CREBBP	M	1742	V	M1742V	Likely pathogenic	1	1	70	1
MUT:CREBBP:Met177Val	PROT:Q92793	CREBBP	M	177	V	M177V	Likely benign	0	2	70	53
MUT:CREBBP:Met1872Thr	PROT:Q92793	CREBBP	M	1872	T	M1872T	Pathogenic/Likely pathogenic	1	2	70	1
MUT:CREBBP:Met1872Val	PROT:Q92793	CREBBP	M	1872	V	M1872V	Pathogenic/Likely pathogenic	1	5	70	1
MUT:CREBBP:Met1Ile	PROT:Q92793	CREBBP	M	1	I	M1I	Pathogenic	1	1	70	12
MUT:CREBBP:Met1Lys	PROT:Q92793	CREBBP	M	1	K	M1K	Pathogenic	1	1	70	12
MUT:CREBBP:Met2013Ile	PROT:Q92793	CREBBP	M	2013	I	M2013I	Benign	0	1	70	50
MUT:CREBBP:Met2053Val	PROT:Q92793	CREBBP	M	2053	V	M2053V	Benign	0	1	70	10
MUT:CREBBP:Met2145Leu	PROT:Q92793	CREBBP	M	2145	L	M2145L	Likely benign	0	2	70	43
MUT:CREBBP:Met2161Ile	PROT:Q92793	CREBBP	M	2161	I	M2161I	Likely benign	0	1	70	59
MUT:CREBBP:Met2314Thr	PROT:Q92793	CREBBP	M	2314	T	M2314T	Likely benign	0	1	70	8
MUT:CREBBP:Met288Val	PROT:Q92793	CREBBP	M	288	V	M288V	Benign	0	1	70	14
MUT:CREBBP:Met747Val	PROT:Q92793	CREBBP	M	747	V	M747V	Benign/Likely benign	0	2	70	88
MUT:CREBBP:Met866Val	PROT:Q92793	CREBBP	M	866	V	M866V	Likely benign	0	2	70	135
MUT:CREBBP:Phe1409Ser	PROT:Q92793	CREBBP	F	1409	S	F1409S	Likely pathogenic	1	1	70	18
MUT:CREBBP:Phe1921Leu	PROT:Q92793	CREBBP	F	1921	L	F1921L	Likely benign	0	1	70	47
MUT:CREBBP:Phe724Leu	PROT:Q92793	CREBBP	F	724	L	F724L	Likely benign	0	1	70	65
MUT:CREBBP:Pro1010Leu	PROT:Q92793	CREBBP	P	1010	L	P1010L	Likely benign	0	2	70	4
MUT:CREBBP:Pro1053Leu	PROT:Q92793	CREBBP	P	1053	L	P1053L	Benign/Likely benign	0	3	70	10
MUT:CREBBP:Pro1077Leu	PROT:Q92793	CREBBP	P	1077	L	P1077L	Benign	0	1	70	1
MUT:CREBBP:Pro107Leu	PROT:Q92793	CREBBP	P	107	L	P107L	Likely benign	0	1	70	14
MUT:CREBBP:Pro1080Leu	PROT:Q92793	CREBBP	P	1080	L	P1080L	Benign/Likely benign	0	2	70	4
MUT:CREBBP:Pro1277Ser	PROT:Q92793	CREBBP	P	1277	S	P1277S	Likely benign	0	1	70	74
MUT:CREBBP:Pro134Ser	PROT:Q92793	CREBBP	P	134	S	P134S	Likely benign	0	1	70	10
MUT:CREBBP:Pro1494Ser	PROT:Q92793	CREBBP	P	1494	S	P1494S	Pathogenic	1	1	70	30
MUT:CREBBP:Pro1538Leu	PROT:Q92793	CREBBP	P	1538	L	P1538L	Likely pathogenic	1	1	70	3
MUT:CREBBP:Pro153Leu	PROT:Q92793	CREBBP	P	153	L	P153L	Benign/Likely benign	0	2	70	29
MUT:CREBBP:Pro1608Thr	PROT:Q92793	CREBBP	P	1608	T	P1608T	Benign/Likely benign	0	1	70	11
MUT:CREBBP:Pro1947Ser	PROT:Q92793	CREBBP	P	1947	S	P1947S	Benign/Likely benign	0	1	70	73
MUT:CREBBP:Pro2005Ser	PROT:Q92793	CREBBP	P	2005	S	P2005S	Likely benign	0	1	70	58
MUT:CREBBP:Pro20Leu	PROT:Q92793	CREBBP	P	20	L	P20L	Likely benign	0	1	70	7
MUT:CREBBP:Pro2131Ser	PROT:Q92793	CREBBP	P	2131	S	P2131S	Likely benign	0	1	70	29
MUT:CREBBP:Pro2242Leu	PROT:Q92793	CREBBP	P	2242	L	P2242L	Benign	0	1	70	80
MUT:CREBBP:Pro2311Leu	PROT:Q92793	CREBBP	P	2311	L	P2311L	Benign	0	1	70	11
MUT:CREBBP:Pro287Gly	PROT:Q92793	CREBBP	P	287	G	P287G	Likely pathogenic	1	1	70	15
MUT:CREBBP:Pro542Ser	PROT:Q92793	CREBBP	P	542	S	P542S	Likely benign	0	2	70	80
MUT:CREBBP:Pro543Ala	PROT:Q92793	CREBBP	P	543	A	P543A	Likely benign	0	1	70	79
MUT:CREBBP:Pro61Thr	PROT:Q92793	CREBBP	P	61	T	P61T	Benign	0	2	70	17
MUT:CREBBP:Pro686Thr	PROT:Q92793	CREBBP	P	686	T	P686T	Likely benign	0	1	70	27
MUT:CREBBP:Pro688Ala	PROT:Q92793	CREBBP	P	688	A	P688A	Benign	0	2	70	29
MUT:CREBBP:Pro814Arg	PROT:Q92793	CREBBP	P	814	R	P814R	Benign	0	2	70	155
MUT:CREBBP:Pro846Arg	PROT:Q92793	CREBBP	P	846	R	P846R	Benign	0	2	70	155
MUT:CREBBP:Pro847Thr	PROT:Q92793	CREBBP	P	847	T	P847T	Likely benign	0	1	70	154
MUT:CREBBP:Pro84Thr	PROT:Q92793	CREBBP	P	84	T	P84T	Benign/Likely benign	0	2	70	6
MUT:CREBBP:Pro858Ser	PROT:Q92793	CREBBP	P	858	S	P858S	Benign/Likely benign	0	1	70	143
MUT:CREBBP:Pro882Ser	PROT:Q92793	CREBBP	P	882	S	P882S	Benign	0	1	70	119
MUT:CREBBP:Pro901Leu	PROT:Q92793	CREBBP	P	901	L	P901L	Benign/Likely benign	0	1	70	100
MUT:CREBBP:Pro928Leu	PROT:Q92793	CREBBP	P	928	L	P928L	Likely benign	0	2	70	73
MUT:CREBBP:Pro949Leu	PROT:Q92793	CREBBP	P	949	L	P949L	Benign/Likely benign	0	2	70	52
MUT:CREBBP:Pro951Thr	PROT:Q92793	CREBBP	P	951	T	P951T	Likely benign	0	2	70	50
MUT:CREBBP:Ser1043Leu	PROT:Q92793	CREBBP	S	1043	L	S1043L	Benign/Likely benign	0	1	70	0
MUT:CREBBP:Ser1078Pro	PROT:Q92793	CREBBP	S	1078	P	S1078P	Benign/Likely benign	0	2	70	2
MUT:CREBBP:Ser116Gly	PROT:Q92793	CREBBP	S	116	G	S116G	Likely benign	0	1	70	5
MUT:CREBBP:Ser1179Gly	PROT:Q92793	CREBBP	S	1179	G	S1179G	Likely pathogenic	1	1	70	8
MUT:CREBBP:Ser128Cys	PROT:Q92793	CREBBP	S	128	C	S128C	Benign/Likely benign	0	2	70	4
MUT:CREBBP:Ser128Pro	PROT:Q92793	CREBBP	S	128	P	S128P	Benign/Likely benign	0	1	70	4
MUT:CREBBP:Ser132Asn	PROT:Q92793	CREBBP	S	132	N	S132N	Benign	0	1	70	8
MUT:CREBBP:Ser1382Phe	PROT:Q92793	CREBBP	S	1382	F	S1382F	Likely pathogenic	1	1	70	0
MUT:CREBBP:Ser1684Pro	PROT:Q92793	CREBBP	S	1684	P	S1684P	Likely pathogenic	1	1	70	15
MUT:CREBBP:Ser1687Phe	PROT:Q92793	CREBBP	S	1687	F	S1687F	Likely pathogenic	1	1	70	18
MUT:CREBBP:Ser1687Pro	PROT:Q92793	CREBBP	S	1687	P	S1687P	Likely pathogenic	1	1	70	18
MUT:CREBBP:Ser2393Thr	PROT:Q92793	CREBBP	S	2393	T	S2393T	Likely benign	0	1	70	1
MUT:CREBBP:Ser27Asn	PROT:Q92793	CREBBP	S	27	N	S27N	Likely benign	0	1	70	14
MUT:CREBBP:Ser299Gly	PROT:Q92793	CREBBP	S	299	G	S299G	Likely benign	0	2	70	3
MUT:CREBBP:Ser302Asn	PROT:Q92793	CREBBP	S	302	N	S302N	Benign/Likely benign	0	3	70	0
MUT:CREBBP:Ser584Pro	PROT:Q92793	CREBBP	S	584	P	S584P	Likely benign	0	2	70	38
MUT:CREBBP:Ser893Leu	PROT:Q92793	CREBBP	S	893	L	S893L	Benign/Likely benign	0	3	70	108
MUT:CREBBP:Ser92Asn	PROT:Q92793	CREBBP	S	92	N	S92N	Benign	0	1	70	1
MUT:CREBBP:Ser92Gly	PROT:Q92793	CREBBP	S	92	G	S92G	Likely benign	0	1	70	1
MUT:CREBBP:Ser93Asn	PROT:Q92793	CREBBP	S	93	N	S93N	Likely benign	0	1	70	0
MUT:CREBBP:Ser977Leu	PROT:Q92793	CREBBP	S	977	L	S977L	Likely benign	0	1	70	24
MUT:CREBBP:Thr1075Ala	PROT:Q92793	CREBBP	T	1075	A	T1075A	Likely benign	0	2	70	1
MUT:CREBBP:Thr1171Arg	PROT:Q92793	CREBBP	T	1171	R	T1171R	Likely pathogenic	1	1	70	0
MUT:CREBBP:Thr1426Arg	PROT:Q92793	CREBBP	T	1426	R	T1426R	Likely pathogenic	1	1	70	24
MUT:CREBBP:Thr1447Ile	PROT:Q92793	CREBBP	T	1447	I	T1447I	Pathogenic/Likely pathogenic	1	1	70	3
MUT:CREBBP:Thr1593Ser	PROT:Q92793	CREBBP	T	1593	S	T1593S	Likely benign	0	1	70	2
MUT:CREBBP:Thr1986Ala	PROT:Q92793	CREBBP	T	1986	A	T1986A	Likely benign	0	2	70	77
MUT:CREBBP:Thr1986Met	PROT:Q92793	CREBBP	T	1986	M	T1986M	Likely benign	0	2	70	77
MUT:CREBBP:Thr2431Met	PROT:Q92793	CREBBP	T	2431	M	T2431M	Likely benign	0	1	70	6
MUT:CREBBP:Thr244Met	PROT:Q92793	CREBBP	T	244	M	T244M	Benign	0	1	70	58
MUT:CREBBP:Thr312Ala	PROT:Q92793	CREBBP	T	312	A	T312A	Likely benign	0	1	70	10
MUT:CREBBP:Thr498Met	PROT:Q92793	CREBBP	T	498	M	T498M	Likely benign	0	2	70	109
MUT:CREBBP:Thr573Ser	PROT:Q92793	CREBBP	T	573	S	T573S	Likely benign	0	1	70	49
MUT:CREBBP:Thr817Ile	PROT:Q92793	CREBBP	T	817	I	T817I	Likely benign	0	1	70	158
MUT:CREBBP:Thr910Ala	PROT:Q92793	CREBBP	T	910	A	T910A	Benign/Likely benign	0	5	70	91
MUT:CREBBP:Thr910Ser	PROT:Q92793	CREBBP	T	910	S	T910S	Benign/Likely benign	0	2	70	91
MUT:CREBBP:Thr950Lys	PROT:Q92793	CREBBP	T	950	K	T950K	Likely benign	0	1	70	51
MUT:CREBBP:Thr950Met	PROT:Q92793	CREBBP	T	950	M	T950M	Likely benign	0	1	70	51
MUT:CREBBP:Thr999Ala	PROT:Q92793	CREBBP	T	999	A	T999A	Benign	0	1	70	2
MUT:CREBBP:Thr999Met	PROT:Q92793	CREBBP	T	999	M	T999M	Benign/Likely benign	0	2	70	2
MUT:CREBBP:Tyr1175Cys	PROT:Q92793	CREBBP	Y	1175	C	Y1175C	Pathogenic/Likely pathogenic	1	1	70	4
MUT:CREBBP:Tyr1298Phe	PROT:Q92793	CREBBP	Y	1298	F	Y1298F	Likely benign	0	1	70	78
MUT:CREBBP:Tyr1433His	PROT:Q92793	CREBBP	Y	1433	H	Y1433H	Likely pathogenic	1	1	70	17
MUT:CREBBP:Tyr1450His	PROT:Q92793	CREBBP	Y	1450	H	Y1450H	Pathogenic	1	1	70	0
MUT:CREBBP:Tyr1482Asp	PROT:Q92793	CREBBP	Y	1482	D	Y1482D	Pathogenic	1	1	70	32
MUT:CREBBP:Tyr1482Cys	PROT:Q92793	CREBBP	Y	1482	C	Y1482C	Likely pathogenic	1	1	70	32
MUT:CREBBP:Tyr1503Cys	PROT:Q92793	CREBBP	Y	1503	C	Y1503C	Pathogenic	1	1	70	21
MUT:CREBBP:Tyr1503Phe	PROT:Q92793	CREBBP	Y	1503	F	Y1503F	Likely pathogenic	1	2	70	21
MUT:CREBBP:Tyr1539Asn	PROT:Q92793	CREBBP	Y	1539	N	Y1539N	Likely pathogenic	1	1	70	4
MUT:CREBBP:Tyr1733Asp	PROT:Q92793	CREBBP	Y	1733	D	Y1733D	Likely pathogenic	1	1	70	3
MUT:CREBBP:Tyr650His	PROT:Q92793	CREBBP	Y	650	H	Y650H	Pathogenic	1	1	70	7
MUT:CREBBP:Val1157Leu	PROT:Q92793	CREBBP	V	1157	L	V1157L	Benign	0	1	70	14
MUT:CREBBP:Val1295Ile	PROT:Q92793	CREBBP	V	1295	I	V1295I	Likely benign	0	1	70	81
MUT:CREBBP:Val1361Ala	PROT:Q92793	CREBBP	V	1361	A	V1361A	Likely pathogenic	1	1	70	15
MUT:CREBBP:Val1414Ile	PROT:Q92793	CREBBP	V	1414	I	V1414I	Likely benign	0	2	70	23
MUT:CREBBP:Val1924Met	PROT:Q92793	CREBBP	V	1924	M	V1924M	Benign/Likely benign	0	2	70	50
MUT:CREBBP:Val2012Ile	PROT:Q92793	CREBBP	V	2012	I	V2012I	Likely benign	0	1	70	51
MUT:CREBBP:Val2048Met	PROT:Q92793	CREBBP	V	2048	M	V2048M	Likely benign	0	1	70	15
MUT:CREBBP:Val2149Leu	PROT:Q92793	CREBBP	V	2149	L	V2149L	Benign	0	1	70	47
MUT:CREBBP:Val2149Met	PROT:Q92793	CREBBP	V	2149	M	V2149M	Benign/Likely benign	0	1	70	47
MUT:CREBBP:Val2376Ile	PROT:Q92793	CREBBP	V	2376	I	V2376I	Benign	0	2	70	1
MUT:CREBBP:Val238Leu	PROT:Q92793	CREBBP	V	238	L	V238L	Benign/Likely benign	0	3	70	64
MUT:CREBBP:Val238Met	PROT:Q92793	CREBBP	V	238	M	V238M	Benign/Likely benign	0	3	70	64
MUT:CREBBP:Val819Met	PROT:Q92793	CREBBP	V	819	M	V819M	Benign	0	2	70	160
MUT:CREBBP:Val952Leu	PROT:Q92793	CREBBP	V	952	L	V952L	Likely benign	0	1	70	49
MUT:CREBBP:Val992Ile	PROT:Q92793	CREBBP	V	992	I	V992I	Benign	0	1	70	9
MUT:CREBBP:Val994Met	PROT:Q92793	CREBBP	V	994	M	V994M	Benign/Likely benign	0	1	70	7
MUT:CRLS1:Ala172Asp	PROT:Q9UJA2	CRLS1	A	172	D	A172D	Pathogenic	1	1	1	53
MUT:CRLS1:Ile109Asn	PROT:Q9UJA2	CRLS1	I	109	N	I109N	Pathogenic	1	1	1	116
MUT:CRLS1:Leu217Phe	PROT:Q9UJA2	CRLS1	L	217	F	L217F	Pathogenic	1	1	1	8
MUT:CRNKL1:Arg106Cys	PROT:Q9BZJ0	CRNKL1	R	106	C	R106C	Pathogenic	1	1	12	93
MUT:CRNKL1:Arg106His	PROT:Q9BZJ0	CRNKL1	R	106	H	R106H	Pathogenic	1	1	12	93
MUT:CRNKL1:Arg140Gly	PROT:Q9BZJ0	CRNKL1	R	140	G	R140G	Likely pathogenic	1	1	12	59
MUT:CRTAP:Lys157Arg	PROT:O75718	CRTAP	K	157	R	K157R	Pathogenic	1	1	8	0
MUT:CRTAP:Met1Ile	PROT:O75718	CRTAP	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	8	122
MUT:CRTAP:Met1Thr	PROT:O75718	CRTAP	M	1	T	M1T	Pathogenic	1	1	8	122
MUT:CRTAP:Ser208Asn	PROT:O75718	CRTAP	S	208	N	S208N	Benign	0	1	8	9
MUT:CRTAP:Val214Ala	PROT:O75718	CRTAP	V	214	A	V214A	Benign	0	2	8	15
MUT:CRYAA:Arg116Cys	PROT:P02489	CRYAA	R	116	C	R116C	Pathogenic	1	1	11	6
MUT:CRYAA:Arg116His	PROT:P02489	CRYAA	R	116	H	R116H	Pathogenic	1	3	11	6
MUT:CRYAA:Arg116Leu	PROT:P02489	CRYAA	R	116	L	R116L	Likely pathogenic	1	1	11	6
MUT:CRYAA:Arg116Ser	PROT:P02489	CRYAA	R	116	S	R116S	Pathogenic	1	1	11	6
MUT:CRYAA:Arg12Cys	PROT:P02489	CRYAA	R	12	C	R12C	Pathogenic/Likely pathogenic	1	4	11	1
MUT:CRYAA:Arg21Gln	PROT:P02489	CRYAA	R	21	Q	R21Q	Pathogenic	1	1	11	1
MUT:CRYAA:Arg21Trp	PROT:P02489	CRYAA	R	21	W	R21W	Pathogenic/Likely pathogenic	1	4	11	1
MUT:CRYAA:Arg54Cys	PROT:P02489	CRYAA	R	54	C	R54C	Pathogenic	1	2	11	5
MUT:CRYAA:Gly98Arg	PROT:P02489	CRYAA	G	98	R	G98R	Pathogenic	1	1	11	1
MUT:CRYAA:Tyr48Asp	PROT:P02489	CRYAA	Y	48	D	Y48D	Likely pathogenic	1	1	11	0
MUT:CRYAB:Arg120Gly	PROT:P02511	CRYAB	R	120	G	R120G	Pathogenic	1	1	22	28
MUT:CRYAB:Asp109Gly	PROT:P02511	CRYAB	D	109	G	D109G	Likely pathogenic	1	2	22	17
MUT:CRYAB:Asp109His	PROT:P02511	CRYAB	D	109	H	D109H	Pathogenic	1	1	22	17
MUT:CRYAB:Asp140Asn	PROT:P02511	CRYAB	D	140	N	D140N	Pathogenic	1	1	22	10
MUT:CRYAB:Pro20Arg	PROT:P02511	CRYAB	P	20	R	P20R	Pathogenic	1	1	22	1
MUT:CRYAB:Pro20Ser	PROT:P02511	CRYAB	P	20	S	P20S	Pathogenic	1	1	22	1
MUT:CRYBA1:Arg114Cys	PROT:P05813	CRYBA1	R	114	C	R114C	Pathogenic	1	1	6	11
MUT:CRYBA1:Arg58His	PROT:P05813	CRYBA1	R	58	H	R58H	Benign/Likely benign	0	2	6	57
MUT:CRYBA1:Gly159Ser	PROT:P05813	CRYBA1	G	159	S	G159S	Benign/Likely benign	0	1	6	1
MUT:CRYBA1:Ile116Val	PROT:P05813	CRYBA1	I	116	V	I116V	Benign	0	1	6	9
MUT:CRYBA1:Pro25Leu	PROT:P05813	CRYBA1	P	25	L	P25L	Benign/Likely benign	0	1	6	24
MUT:CRYBA1:Pro30Leu	PROT:P05813	CRYBA1	P	30	L	P30L	Benign/Likely benign	0	1	6	29
MUT:CRYBA1:Ser209Trp	PROT:P05813	CRYBA1	S	209	W	S209W	Likely pathogenic	1	1	6	5
MUT:CRYBB2:Ala65Ser	PROT:P43320	CRYBB2	A	65	S	A65S	Benign/Likely benign	0	1	5	11
MUT:CRYBB2:Arg188Cys	PROT:P43320	CRYBB2	R	188	C	R188C	Pathogenic/Likely pathogenic	1	1	5	2
MUT:CRYBB2:Arg188His	PROT:P43320	CRYBB2	R	188	H	R188H	Pathogenic	1	1	5	2
MUT:CRYBB2:Arg188Leu	PROT:P43320	CRYBB2	R	188	L	R188L	Pathogenic	1	1	5	2
MUT:CRYBB2:Asn35Ser	PROT:P43320	CRYBB2	N	35	S	N35S	Likely benign	0	1	5	41
MUT:CRYBB2:Gly119Arg	PROT:P43320	CRYBB2	G	119	R	G119R	Pathogenic/Likely pathogenic	1	1	5	1
MUT:CRYBB2:Gly149Val	PROT:P43320	CRYBB2	G	149	V	G149V	Likely pathogenic	1	1	5	28
MUT:CRYBB2:Gly77Val	PROT:P43320	CRYBB2	G	77	V	G77V	Likely pathogenic	1	1	5	1
MUT:CRYBB2:Pro157Leu	PROT:P43320	CRYBB2	P	157	L	P157L	Pathogenic	1	1	5	29
MUT:CRYBB2:Pro58Leu	PROT:P43320	CRYBB2	P	58	L	P58L	Likely pathogenic	1	1	5	18
MUT:CRYBB2:Ser143Pro	PROT:P43320	CRYBB2	S	143	P	S143P	Likely pathogenic	1	1	5	22
MUT:CRYBB2:Ser14Thr	PROT:P43320	CRYBB2	S	14	T	S14T	Benign	0	1	5	62
MUT:CRYBB2:Ser186Pro	PROT:P43320	CRYBB2	S	186	P	S186P	Likely pathogenic	1	1	5	0
MUT:CRYBB2:Val184Gly	PROT:P43320	CRYBB2	V	184	G	V184G	Likely pathogenic	1	1	5	2
MUT:CRYBB2:Val54Gly	PROT:P43320	CRYBB2	V	54	G	V54G	Likely pathogenic	1	1	5	22
MUT:CRYBB3:Arg105Gln	PROT:P26998	CRYBB3	R	105	Q	R105Q	Benign/Likely benign	0	8	4	23
MUT:CRYBB3:Gly165Arg	PROT:P26998	CRYBB3	G	165	R	G165R	Pathogenic	1	2	4	37
MUT:CRYBB3:His113Asp	PROT:P26998	CRYBB3	H	113	D	H113D	Benign	0	1	4	15
MUT:CRYBB3:Ile131Arg	PROT:P26998	CRYBB3	I	131	R	I131R	Likely pathogenic	1	1	4	3
MUT:CRYBB3:Val159Ile	PROT:P26998	CRYBB3	V	159	I	V159I	Benign/Likely benign	0	1	4	31
MUT:CRYBB3:Val194Glu	PROT:P26998	CRYBB3	V	194	E	V194E	Pathogenic	1	1	4	66
MUT:CRYBG2:Arg477Gln	PROT:Q8N1P7	CRYBG2	R	477	Q	R477Q	Likely benign	0	1	4	45
MUT:CRYGC:Arg122Cys	PROT:P07315	CRYGC	R	122	C	R122C	Benign	0	1	2	56
MUT:CRYGC:Arg48His	PROT:P07315	CRYGC	R	48	H	R48H	Benign	0	2	2	15
MUT:CRYGC:Arg91Trp	PROT:P07315	CRYGC	R	91	W	R91W	Likely benign	0	2	2	25
MUT:CRYGC:Gly129Cys	PROT:P07315	CRYGC	G	129	C	G129C	Pathogenic	1	1	2	63
MUT:CRYGC:Ser106Asn	PROT:P07315	CRYGC	S	106	N	S106N	Benign/Likely benign	0	1	2	40
MUT:CRYGC:Ser166Phe	PROT:P07315	CRYGC	S	166	F	S166F	Pathogenic	1	2	2	100
MUT:CRYGC:Thr5Pro	PROT:P07315	CRYGC	T	5	P	T5P	Pathogenic	1	2	2	58
MUT:CRYGC:Val86Phe	PROT:P07315	CRYGC	V	86	F	V86F	Likely benign	0	2	2	20
MUT:CRYGS:Gly102Glu	PROT:P22914	CRYGS	G	102	E	G102E	Likely benign	0	1	3	67
MUT:CRYGS:Gly18Asp	PROT:P22914	CRYGS	G	18	D	G18D	Pathogenic	1	1	3	3
MUT:CRYGS:Gly18Val	PROT:P22914	CRYGS	G	18	V	G18V	Pathogenic	1	2	3	3
MUT:CRYGS:Ser39Cys	PROT:P22914	CRYGS	S	39	C	S39C	Likely pathogenic	1	1	3	4
MUT:CRYGS:Val42Met	PROT:P22914	CRYGS	V	42	M	V42M	Pathogenic	1	1	3	7
MUT:CRYL1:Gly134Ser	PROT:Q9Y2S2	CRYL1	G	134	S	G134S	Benign	0	1	1	5
MUT:CRYZ:Gln280Arg	PROT:Q08257	CRYZ	Q	280	R	Q280R	Likely benign	0	1	13	32
MUT:CRYZ:Glu183Lys	PROT:Q08257	CRYZ	E	183	K	E183K	Benign	0	1	13	8
MUT:CSF2RB:Arg215His	PROT:P32927	CSF2RB	R	215	H	R215H	Benign/Likely benign	0	1	10	5
MUT:CSF2RB:Arg471Cys	PROT:P32927	CSF2RB	R	471	C	R471C	Benign	0	1	10	2
MUT:CSF2RB:Gly762Glu	PROT:P32927	CSF2RB	G	762	E	G762E	Likely benign	0	1	10	4
MUT:CSF2RB:Ile187Thr	PROT:P32927	CSF2RB	I	187	T	I187T	Likely benign	0	1	10	33
MUT:CSF2RB:Leu460Val	PROT:P32927	CSF2RB	L	460	V	L460V	Likely benign	0	1	10	6
MUT:CSF2RB:Leu734Pro	PROT:P32927	CSF2RB	L	734	P	L734P	Likely benign	0	1	10	23
MUT:CSF2RB:Lys543Arg	PROT:P32927	CSF2RB	K	543	R	K543R	Likely benign	0	1	10	42
MUT:CSF2RB:Pro609Leu	PROT:P32927	CSF2RB	P	609	L	P609L	Likely benign	0	1	10	8
MUT:CSF2RB:Ser20Arg	PROT:P32927	CSF2RB	S	20	R	S20R	Benign/Likely benign	0	1	10	200
MUT:CSNK2B:Arg111Pro	PROT:P67870	CSNK2B	R	111	P	R111P	Pathogenic	1	1	14	3
MUT:CSNK2B:Asn35Ile	PROT:P67870	CSNK2B	N	35	I	N35I	Likely pathogenic	1	1	14	2
MUT:CSNK2B:Asp26Gly	PROT:P67870	CSNK2B	D	26	G	D26G	Likely pathogenic	1	1	14	11
MUT:CSNK2B:Asp32Ala	PROT:P67870	CSNK2B	D	32	A	D32A	Pathogenic	1	1	14	5
MUT:CSNK2B:Asp32Asn	PROT:P67870	CSNK2B	D	32	N	D32N	Pathogenic/Likely pathogenic	1	2	14	5
MUT:CSNK2B:Asp32His	PROT:P67870	CSNK2B	D	32	H	D32H	Pathogenic	1	1	14	5
MUT:CSNK2B:Asp32Tyr	PROT:P67870	CSNK2B	D	32	Y	D32Y	Pathogenic	1	1	14	5
MUT:CSNK2B:Cys137Tyr	PROT:P67870	CSNK2B	C	137	Y	C137Y	Pathogenic/Likely pathogenic	1	2	14	2
MUT:CSNK2B:Gly189Val	PROT:P67870	CSNK2B	G	189	V	G189V	Likely pathogenic	1	1	14	1
MUT:CSNK2B:His165Arg	PROT:P67870	CSNK2B	H	165	R	H165R	Pathogenic/Likely pathogenic	1	1	14	23
MUT:CSNK2B:Leu187Arg	PROT:P67870	CSNK2B	L	187	R	L187R	Pathogenic/Likely pathogenic	1	2	14	1
MUT:CSNK2B:Leu187Pro	PROT:P67870	CSNK2B	L	187	P	L187P	Pathogenic	1	1	14	1
MUT:CSNK2B:Leu39Arg	PROT:P67870	CSNK2B	L	39	R	L39R	Likely pathogenic	1	1	14	2
MUT:CSNK2B:Met1Ile	PROT:P67870	CSNK2B	M	1	I	M1I	Pathogenic/Likely pathogenic	1	1	14	36
MUT:CSNK2B:Met1Val	PROT:P67870	CSNK2B	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	14	36
MUT:CSNK2B:Met97Ile	PROT:P67870	CSNK2B	M	97	I	M97I	Likely pathogenic	1	1	14	3
MUT:CSRP3:Cys150Tyr	PROT:P50461	CSRP3	C	150	Y	C150Y	Pathogenic/Likely pathogenic	1	3	7	3
MUT:CSRP3:Cys58Gly	PROT:P50461	CSRP3	C	58	G	C58G	Pathogenic	1	1	7	1
MUT:CSRP3:Phe145Cys	PROT:P50461	CSRP3	F	145	C	F145C	Likely pathogenic	1	1	7	8
MUT:CSRP3:Thr16Ser	PROT:P50461	CSRP3	T	16	S	T16S	Likely pathogenic	1	1	7	26
MUT:CSRP3:Trp140Cys	PROT:P50461	CSRP3	W	140	C	W140C	Pathogenic	1	1	7	13
MUT:CST3:Ala25Thr	PROT:P01034	CST3	A	25	T	A25T	Benign/Likely benign	0	2	1	18
MUT:CST3:Leu94Gln	PROT:P01034	CST3	L	94	Q	L94Q	Pathogenic	1	1	1	51
MUT:CSTB:Gln71Pro	PROT:P04080	CSTB	Q	71	P	Q71P	Pathogenic	1	1	15	1
MUT:CSTB:Gly4Arg	PROT:P04080	CSTB	G	4	R	G4R	Likely pathogenic	1	1	15	3
MUT:CSTB:Gly4Trp	PROT:P04080	CSTB	G	4	W	G4W	Likely pathogenic	1	1	15	3
MUT:CSTF2:Asp50Ala	PROT:P33240	CSTF2	D	50	A	D50A	Pathogenic	1	1	18	36
MUT:CSTF2:Gly506Glu	PROT:P33240	CSTF2	G	506	E	G506E	Likely benign	0	1	18	1
MUT:CTBP2:Gly117Ser	PROT:P56545	CTBP2	G	117	S	G117S	Pathogenic	1	1	4	33
MUT:CTBP2:Thr182Met	PROT:P56545	CTBP2	T	182	M	T182M	Pathogenic	1	1	4	98
MUT:CTBP2:Val223Met	PROT:P56545	CTBP2	V	223	M	V223M	Pathogenic	1	1	4	63
MUT:CTCF:Arg283His	PROT:P49711	CTCF	R	283	H	R283H	Likely pathogenic	1	1	32	4
MUT:CTCF:Arg320Gly	PROT:P49711	CTCF	R	320	G	R320G	Likely pathogenic	1	1	32	1
MUT:CTCF:Arg320His	PROT:P49711	CTCF	R	320	H	R320H	Likely pathogenic	1	1	32	1
MUT:CTCF:Arg342Cys	PROT:P49711	CTCF	R	342	C	R342C	Pathogenic/Likely pathogenic	1	3	32	1
MUT:CTCF:Arg342His	PROT:P49711	CTCF	R	342	H	R342H	Pathogenic/Likely pathogenic	1	1	32	1
MUT:CTCF:Arg368Cys	PROT:P49711	CTCF	R	368	C	R368C	Pathogenic	1	1	32	6
MUT:CTCF:Arg368His	PROT:P49711	CTCF	R	368	H	R368H	Pathogenic	1	1	32	6
MUT:CTCF:Arg448Gln	PROT:P49711	CTCF	R	448	Q	R448Q	Pathogenic	1	2	32	1
MUT:CTCF:Arg567Trp	PROT:P49711	CTCF	R	567	W	R567W	Pathogenic/Likely pathogenic	1	3	32	2
MUT:CTCF:Asp390Asn	PROT:P49711	CTCF	D	390	N	D390N	Likely pathogenic	1	1	32	8
MUT:CTCF:Asp390Gly	PROT:P49711	CTCF	D	390	G	D390G	Likely pathogenic	1	1	32	8
MUT:CTCF:Asp390Val	PROT:P49711	CTCF	D	390	V	D390V	Likely pathogenic	1	1	32	8
MUT:CTCF:Asp46Asn	PROT:P49711	CTCF	D	46	N	D46N	Likely benign	0	1	32	45
MUT:CTCF:Cys327Arg	PROT:P49711	CTCF	C	327	R	C327R	Pathogenic	1	1	32	6
MUT:CTCF:Cys327Ser	PROT:P49711	CTCF	C	327	S	C327S	Likely pathogenic	1	1	32	6
MUT:CTCF:Cys384Arg	PROT:P49711	CTCF	C	384	R	C384R	Likely pathogenic	1	1	32	2
MUT:CTCF:Cys409Tyr	PROT:P49711	CTCF	C	409	Y	C409Y	Likely pathogenic	1	1	32	9
MUT:CTCF:Gln459Pro	PROT:P49711	CTCF	Q	459	P	Q459P	Likely pathogenic	1	1	32	1
MUT:CTCF:Glu234Asp	PROT:P49711	CTCF	E	234	D	E234D	Likely benign	0	1	32	10
MUT:CTCF:Glu336Gln	PROT:P49711	CTCF	E	336	Q	E336Q	Likely pathogenic	1	1	32	3
MUT:CTCF:His373Asp	PROT:P49711	CTCF	H	373	D	H373D	Pathogenic	1	1	32	1
MUT:CTCF:His373Gln	PROT:P49711	CTCF	H	373	Q	H373Q	Likely pathogenic	1	1	32	1
MUT:CTCF:His373Pro	PROT:P49711	CTCF	H	373	P	H373P	Likely pathogenic	1	1	32	1
MUT:CTCF:His455Gln	PROT:P49711	CTCF	H	455	Q	H455Q	Likely pathogenic	1	1	32	3
MUT:CTCF:His573Arg	PROT:P49711	CTCF	H	573	R	H573R	Likely pathogenic	1	1	32	4
MUT:CTCF:Leu366Phe	PROT:P49711	CTCF	L	366	F	L366F	Likely pathogenic	1	1	32	8
MUT:CTCF:Lys344Glu	PROT:P49711	CTCF	K	344	E	K344E	Likely pathogenic	1	1	32	1
MUT:CTCF:Pro378Leu	PROT:P49711	CTCF	P	378	L	P378L	Pathogenic/Likely pathogenic	1	1	32	4
MUT:CTCF:Pro643Ser	PROT:P49711	CTCF	P	643	S	P643S	Benign/Likely benign	0	2	32	1
MUT:CTCF:Thr45Met	PROT:P49711	CTCF	T	45	M	T45M	Likely benign	0	1	32	44
MUT:CTCF:Thr591Met	PROT:P49711	CTCF	T	591	M	T591M	Likely benign	0	1	32	13
MUT:CTCF:Tyr226Cys	PROT:P49711	CTCF	Y	226	C	Y226C	Pathogenic	1	1	32	2
MUT:CTCF:Tyr386Cys	PROT:P49711	CTCF	Y	386	C	Y386C	Likely pathogenic	1	1	32	4
MUT:CTCF:Val630Ile	PROT:P49711	CTCF	V	630	I	V630I	Likely benign	0	1	32	12
MUT:CTDP1:Ala496Val	PROT:Q9Y5B0	CTDP1	A	496	V	A496V	Benign	0	1	23	79
MUT:CTDP1:Ser356Pro	PROT:Q9Y5B0	CTDP1	S	356	P	S356P	Benign/Likely benign	0	1	23	35
MUT:CTDP1:Ser61Ala	PROT:Q9Y5B0	CTDP1	S	61	A	S61A	Benign	0	1	23	174
MUT:CTF1:Gly199Asp	PROT:Q16619	CTF1	G	199	D	G199D	Benign/Likely benign	0	1	1	192
MUT:CTNNA1:Arg308Cys	PROT:P35221	CTNNA1	R	308	C	R308C	Benign/Likely benign	0	2	77	3
MUT:CTNNA1:Asn257Ser	PROT:P35221	CTNNA1	N	257	S	N257S	Benign/Likely benign	0	3	77	7
MUT:CTNNA1:Asp369Asn	PROT:P35221	CTNNA1	D	369	N	D369N	Likely benign	0	1	77	1
MUT:CTNNA1:Gln206His	PROT:P35221	CTNNA1	Q	206	H	Q206H	Benign/Likely benign	0	4	77	7
MUT:CTNNA1:Glu307Lys	PROT:P35221	CTNNA1	E	307	K	E307K	Pathogenic	1	1	77	3
MUT:CTNNA1:Glu74Asp	PROT:P35221	CTNNA1	E	74	D	E74D	Likely benign	0	1	77	1
MUT:CTNNA1:Glu877Asp	PROT:P35221	CTNNA1	E	877	D	E877D	Likely benign	0	1	77	9
MUT:CTNNA1:Leu318Ser	PROT:P35221	CTNNA1	L	318	S	L318S	Pathogenic	1	1	77	5
MUT:CTNNA1:Lys881Gln	PROT:P35221	CTNNA1	K	881	Q	K881Q	Likely benign	0	1	77	5
MUT:CTNNA1:Pro219Ser	PROT:P35221	CTNNA1	P	219	S	P219S	Benign/Likely benign	0	4	77	3
MUT:CTNNA1:Val91Met	PROT:P35221	CTNNA1	V	91	M	V91M	Likely benign	0	1	77	4
MUT:CTNNA3:Ala248Ser	PROT:Q9UI47	CTNNA3	A	248	S	A248S	Benign	0	1	8	74
MUT:CTNNA3:Ala530Ser	PROT:Q9UI47	CTNNA3	A	530	S	A530S	Benign	0	1	8	28
MUT:CTNNA3:Arg378His	PROT:Q9UI47	CTNNA3	R	378	H	R378H	Benign/Likely benign	0	2	8	22
MUT:CTNNA3:Arg484Cys	PROT:Q9UI47	CTNNA3	R	484	C	R484C	Likely benign	0	1	8	18
MUT:CTNNA3:Arg535Cys	PROT:Q9UI47	CTNNA3	R	535	C	R535C	Benign/Likely benign	0	1	8	33
MUT:CTNNA3:Gly793Glu	PROT:Q9UI47	CTNNA3	G	793	E	G793E	Likely benign	0	2	8	143
MUT:CTNNA3:His150Arg	PROT:Q9UI47	CTNNA3	H	150	R	H150R	Likely benign	0	1	8	24
MUT:CTNNA3:Ile617Thr	PROT:Q9UI47	CTNNA3	I	617	T	I617T	Likely benign	0	1	8	1
MUT:CTNNA3:Leu399Ile	PROT:Q9UI47	CTNNA3	L	399	I	L399I	Benign/Likely benign	0	1	8	43
MUT:CTNNA3:Ser160Thr	PROT:Q9UI47	CTNNA3	S	160	T	S160T	Benign/Likely benign	0	1	8	14
MUT:CTNNA3:Ser56Arg	PROT:Q9UI47	CTNNA3	S	56	R	S56R	Likely benign	0	2	8	0
MUT:CTNNA3:Ser685Asn	PROT:Q9UI47	CTNNA3	S	685	N	S685N	Likely benign	0	1	8	35
MUT:CTNNA3:Thr240Ala	PROT:Q9UI47	CTNNA3	T	240	A	T240A	Likely benign	0	1	8	66
MUT:CTNNA3:Thr485Ser	PROT:Q9UI47	CTNNA3	T	485	S	T485S	Benign/Likely benign	0	2	8	17
MUT:CTNNA3:Thr552Met	PROT:Q9UI47	CTNNA3	T	552	M	T552M	Benign/Likely benign	0	2	8	50
MUT:CTNNA3:Val94Asp	PROT:Q9UI47	CTNNA3	V	94	D	V94D	Pathogenic	1	1	8	38
MUT:CTNNAL1:Arg70His	PROT:Q9UBT7	CTNNAL1	R	70	H	R70H	Likely benign	0	2	8	14
MUT:CTNNBL1:Leu245Val	PROT:Q8WYA6	CTNNBL1	L	245	V	L245V	Likely benign	0	4	12	87
MUT:CTNND1:Arg287His	PROT:O60716	CTNND1	R	287	H	R287H	Likely benign	0	1	87	1
MUT:CTNND1:Arg584Trp	PROT:O60716	CTNND1	R	584	W	R584W	Pathogenic	1	1	87	3
MUT:CTNND1:Arg725Trp	PROT:O60716	CTNND1	R	725	W	R725W	Benign	0	1	87	3
MUT:CTNND1:Arg915Lys	PROT:O60716	CTNND1	R	915	K	R915K	Benign	0	1	87	1
MUT:CTNND1:Asn513Asp	PROT:O60716	CTNND1	N	513	D	N513D	Likely benign	0	1	87	4
MUT:CTNND1:Asn606Ser	PROT:O60716	CTNND1	N	606	S	N606S	Likely benign	0	1	87	5
MUT:CTNND1:Asn86Ser	PROT:O60716	CTNND1	N	86	S	N86S	Likely benign	0	1	87	10
MUT:CTNND1:Asp499Gly	PROT:O60716	CTNND1	D	499	G	D499G	Likely pathogenic	1	1	87	18
MUT:CTNND1:Ile108Phe	PROT:O60716	CTNND1	I	108	F	I108F	Likely benign	0	1	87	4
MUT:CTNND1:Thr113Pro	PROT:O60716	CTNND1	T	113	P	T113P	Likely benign	0	1	87	1
MUT:CTNND1:Trp696Cys	PROT:O60716	CTNND1	W	696	C	W696C	Likely pathogenic	1	1	87	14
MUT:CTNS:Ala212Val	PROT:O60931	CTNS	A	212	V	A212V	Pathogenic/Likely pathogenic	1	1	2	69
MUT:CTNS:Arg114His	PROT:O60931	CTNS	R	114	H	R114H	Likely benign	0	1	2	27
MUT:CTNS:Arg119His	PROT:O60931	CTNS	R	119	H	R119H	Benign	0	3	2	22
MUT:CTNS:Arg151Gly	PROT:O60931	CTNS	R	151	G	R151G	Likely pathogenic	1	1	2	8
MUT:CTNS:Asn177Ser	PROT:O60931	CTNS	N	177	S	N177S	Likely pathogenic	1	2	2	34
MUT:CTNS:Asn288Lys	PROT:O60931	CTNS	N	288	K	N288K	Likely pathogenic	1	1	2	145
MUT:CTNS:Asn323Lys	PROT:O60931	CTNS	N	323	K	N323K	Pathogenic	1	2	2	180
MUT:CTNS:Asp205Asn	PROT:O60931	CTNS	D	205	N	D205N	Pathogenic	1	2	2	62
MUT:CTNS:Asp74Asn	PROT:O60931	CTNS	D	74	N	D74N	Likely benign	0	2	2	67
MUT:CTNS:Gln222Arg	PROT:O60931	CTNS	Q	222	R	Q222R	Likely pathogenic	1	1	2	79
MUT:CTNS:Gln315Arg	PROT:O60931	CTNS	Q	315	R	Q315R	Likely pathogenic	1	1	2	172
MUT:CTNS:Gly110Ala	PROT:O60931	CTNS	G	110	A	G110A	Likely pathogenic	1	1	2	31
MUT:CTNS:Gly110Val	PROT:O60931	CTNS	G	110	V	G110V	Pathogenic	1	1	2	31
MUT:CTNS:Gly169Asp	PROT:O60931	CTNS	G	169	D	G169D	Likely pathogenic	1	1	2	26
MUT:CTNS:Gly197Arg	PROT:O60931	CTNS	G	197	R	G197R	Pathogenic/Likely pathogenic	1	3	2	54
MUT:CTNS:Gly308Ala	PROT:O60931	CTNS	G	308	A	G308A	Likely pathogenic	1	1	2	165
MUT:CTNS:Gly308Arg	PROT:O60931	CTNS	G	308	R	G308R	Pathogenic/Likely pathogenic	1	3	2	165
MUT:CTNS:Gly308Val	PROT:O60931	CTNS	G	308	V	G308V	Pathogenic	1	1	2	165
MUT:CTNS:Gly309Ser	PROT:O60931	CTNS	G	309	S	G309S	Pathogenic	1	1	2	166
MUT:CTNS:Gly339Arg	PROT:O60931	CTNS	G	339	R	G339R	Pathogenic	1	3	2	196
MUT:CTNS:Leu158Pro	PROT:O60931	CTNS	L	158	P	L158P	Pathogenic/Likely pathogenic	1	3	2	15
MUT:CTNS:Leu338Arg	PROT:O60931	CTNS	L	338	R	L338R	Pathogenic	1	2	2	195
MUT:CTNS:Lys280Arg	PROT:O60931	CTNS	K	280	R	K280R	Pathogenic/Likely pathogenic	1	2	2	137
MUT:CTNS:Met1Leu	PROT:O60931	CTNS	M	1	L	M1L	Pathogenic	1	1	2	140
MUT:CTNS:Met1Val	PROT:O60931	CTNS	M	1	V	M1V	Pathogenic	1	1	2	140
MUT:CTNS:Ser139Phe	PROT:O60931	CTNS	S	139	F	S139F	Pathogenic/Likely pathogenic	1	4	2	2
MUT:CTNS:Ser141Phe	PROT:O60931	CTNS	S	141	F	S141F	Pathogenic/Likely pathogenic	1	2	2	0
MUT:CTNS:Ser25Cys	PROT:O60931	CTNS	S	25	C	S25C	Likely pathogenic	1	1	2	116
MUT:CTNS:Thr251Ala	PROT:O60931	CTNS	T	251	A	T251A	Likely benign	0	1	2	108
MUT:CTNS:Thr260Ile	PROT:O60931	CTNS	T	260	I	T260I	Benign	0	3	2	117
MUT:CTNS:Trp182Arg	PROT:O60931	CTNS	W	182	R	W182R	Likely pathogenic	1	1	2	39
MUT:CTNS:Tyr173Cys	PROT:O60931	CTNS	Y	173	C	Y173C	Pathogenic	1	1	2	30
MUT:CTNS:Tyr173His	PROT:O60931	CTNS	Y	173	H	Y173H	Likely pathogenic	1	1	2	30
MUT:CTNS:Val163Met	PROT:O60931	CTNS	V	163	M	V163M	Likely benign	0	1	2	20
MUT:CTNS:Val42Ile	PROT:O60931	CTNS	V	42	I	V42I	Benign/Likely benign	0	5	2	99
MUT:CTSH:Arg317Cys	PROT:P09668	CTSH	R	317	C	R317C	Likely benign	0	1	3	211
MUT:CTSZ:Gly191Arg	PROT:Q9UBR2	CTSZ	G	191	R	G191R	Benign	0	2	1	115
MUT:CTU2:Ala108Pro	PROT:Q2VPK5	CTU2	A	108	P	A108P	Benign	0	1	6	106
MUT:CTU2:Arg376Gln	PROT:Q2VPK5	CTU2	R	376	Q	R376Q	Benign/Likely benign	0	1	6	43
MUT:CTU2:Arg427Gln	PROT:Q2VPK5	CTU2	R	427	Q	R427Q	Benign	0	1	6	1
MUT:CTU2:Arg467Cys	PROT:Q2VPK5	CTU2	R	467	C	R467C	Benign/Likely benign	0	1	6	32
MUT:CTU2:Asp453Asn	PROT:Q2VPK5	CTU2	D	453	N	D453N	Benign	0	1	6	18
MUT:CTU2:Gln409Pro	PROT:Q2VPK5	CTU2	Q	409	P	Q409P	Likely benign	0	1	6	10
MUT:CTU2:Gln416Arg	PROT:Q2VPK5	CTU2	Q	416	R	Q416R	Benign	0	1	6	3
MUT:CTU2:Glu25Ala	PROT:Q2VPK5	CTU2	E	25	A	E25A	Benign	0	1	6	23
MUT:CTU2:Gly385Ser	PROT:Q2VPK5	CTU2	G	385	S	G385S	Benign	0	1	6	34
MUT:CTU2:Gly9Arg	PROT:Q2VPK5	CTU2	G	9	R	G9R	Benign	0	1	6	7
MUT:CTU2:His186Tyr	PROT:Q2VPK5	CTU2	H	186	Y	H186Y	Benign	0	5	6	75
MUT:CTU2:His257Gln	PROT:Q2VPK5	CTU2	H	257	Q	H257Q	Likely benign	0	1	6	4
MUT:CTU2:Met253Val	PROT:Q2VPK5	CTU2	M	253	V	M253V	Benign	0	1	6	8
MUT:CTU2:Pro206Ala	PROT:Q2VPK5	CTU2	P	206	A	P206A	Benign	0	1	6	55
MUT:CTU2:Val332Ile	PROT:Q2VPK5	CTU2	V	332	I	V332I	Benign	0	1	6	19
MUT:CUL3:Ala214Gly	PROT:Q13618	CUL3	A	214	G	A214G	Pathogenic	1	1	35	40
MUT:CUL3:Ala437Val	PROT:Q13618	CUL3	A	437	V	A437V	Likely pathogenic	1	1	35	4
MUT:CUL3:Arg128Cys	PROT:Q13618	CUL3	R	128	C	R128C	Pathogenic/Likely pathogenic	1	1	35	56
MUT:CUL3:Arg148Pro	PROT:Q13618	CUL3	R	148	P	R148P	Likely pathogenic	1	1	35	76
MUT:CUL3:Arg162Gln	PROT:Q13618	CUL3	R	162	Q	R162Q	Likely benign	0	1	35	90
MUT:CUL3:Arg438Gly	PROT:Q13618	CUL3	R	438	G	R438G	Pathogenic	1	1	35	4
MUT:CUL3:Asp413Gly	PROT:Q13618	CUL3	D	413	G	D413G	Pathogenic	1	2	35	1
MUT:CUL3:Gly500Asp	PROT:Q13618	CUL3	G	500	D	G500D	Likely pathogenic	1	1	35	17
MUT:CUL3:Ile749Thr	PROT:Q13618	CUL3	I	749	T	I749T	Likely pathogenic	1	1	35	12
MUT:CUL3:Leu321Phe	PROT:Q13618	CUL3	L	321	F	L321F	Likely pathogenic	1	1	35	5
MUT:CUL3:Leu627Pro	PROT:Q13618	CUL3	L	627	P	L627P	Likely pathogenic	1	1	35	41
MUT:CUL3:Lys459Arg	PROT:Q13618	CUL3	K	459	R	K459R	Pathogenic	1	1	35	0
MUT:CUL3:Lys459Met	PROT:Q13618	CUL3	K	459	M	K459M	Pathogenic	1	1	35	0
MUT:CUL3:Ser450Phe	PROT:Q13618	CUL3	S	450	F	S450F	Likely pathogenic	1	1	35	6
MUT:CUL3:Tyr58Cys	PROT:Q13618	CUL3	Y	58	C	Y58C	Pathogenic/Likely pathogenic	1	2	35	0
MUT:CUL3:Val285Ala	PROT:Q13618	CUL3	V	285	A	V285A	Pathogenic	1	1	35	7
MUT:CUL3:Val505Asp	PROT:Q13618	CUL3	V	505	D	V505D	Likely pathogenic	1	1	35	22
MUT:CUL3:Val567Ile	PROT:Q13618	CUL3	V	567	I	V567I	Benign	0	1	35	18
MUT:CUL7:Ala344Thr	PROT:Q14999	CUL7	A	344	T	A344T	Benign/Likely benign	0	1	18	5
MUT:CUL7:Ala594Thr	PROT:Q14999	CUL7	A	594	T	A594T	Benign/Likely benign	0	1	18	13
MUT:CUL7:Ala871Val	PROT:Q14999	CUL7	A	871	V	A871V	Benign/Likely benign	0	1	18	16
MUT:CUL7:Arg1232Gln	PROT:Q14999	CUL7	R	1232	Q	R1232Q	Benign/Likely benign	0	2	18	79
MUT:CUL7:Arg401Gln	PROT:Q14999	CUL7	R	401	Q	R401Q	Benign/Likely benign	0	1	18	62
MUT:CUL7:Arg661Gln	PROT:Q14999	CUL7	R	661	Q	R661Q	Benign/Likely benign	0	2	18	45
MUT:CUL7:Arg852Gln	PROT:Q14999	CUL7	R	852	Q	R852Q	Benign/Likely benign	0	1	18	3
MUT:CUL7:Asn868Ser	PROT:Q14999	CUL7	N	868	S	N868S	Benign/Likely benign	0	2	18	13
MUT:CUL7:Gln514His	PROT:Q14999	CUL7	Q	514	H	Q514H	Benign/Likely benign	0	1	18	53
MUT:CUL7:Glu1021Lys	PROT:Q14999	CUL7	E	1021	K	E1021K	Likely pathogenic	1	1	18	103
MUT:CUL7:Glu677Ala	PROT:Q14999	CUL7	E	677	A	E677A	Likely benign	0	1	18	61
MUT:CUL7:His1464Pro	PROT:Q14999	CUL7	H	1464	P	H1464P	Pathogenic/Likely pathogenic	1	2	18	33
MUT:CUL7:Ile1139Thr	PROT:Q14999	CUL7	I	1139	T	I1139T	Benign	0	1	18	10
MUT:CUL7:Ile1520Val	PROT:Q14999	CUL7	I	1520	V	I1520V	Likely benign	0	1	18	11
MUT:CUL7:Leu1014Arg	PROT:Q14999	CUL7	L	1014	R	L1014R	Pathogenic/Likely pathogenic	1	2	18	110
MUT:CUL7:Leu1488Pro	PROT:Q14999	CUL7	L	1488	P	L1488P	Benign/Likely benign	0	2	18	43
MUT:CUL7:Leu1588Ile	PROT:Q14999	CUL7	L	1588	I	L1588I	Benign/Likely benign	0	1	18	57
MUT:CUL7:Leu1588Pro	PROT:Q14999	CUL7	L	1588	P	L1588P	Pathogenic/Likely pathogenic	1	2	18	57
MUT:CUL7:Lys606Arg	PROT:Q14999	CUL7	K	606	R	K606R	Likely benign	0	1	18	4
MUT:CUL7:Pro343Ser	PROT:Q14999	CUL7	P	343	S	P343S	Benign/Likely benign	0	1	18	4
MUT:CUL7:Ser1442Pro	PROT:Q14999	CUL7	S	1442	P	S1442P	Likely benign	0	1	18	11
MUT:CUL7:Ser616Gly	PROT:Q14999	CUL7	S	616	G	S616G	Benign/Likely benign	0	1	18	0
MUT:CUL7:Thr1421Ala	PROT:Q14999	CUL7	T	1421	A	T1421A	Benign	0	1	18	10
MUT:CUL7:Thr1633Met	PROT:Q14999	CUL7	T	1633	M	T1633M	Benign	0	1	18	102
MUT:CUX1:Ala1051Thr	PROT:P39880	CUX1	A	1051	T	A1051T	Likely benign	0	1	41	8
MUT:CUX1:Ala1083Val	PROT:P39880	CUX1	A	1083	V	A1083V	Likely benign	0	1	41	12
MUT:CUX1:Ala226Thr	PROT:P39880	CUX1	A	226	T	A226T	Likely benign	0	1	41	20
MUT:CUX1:Ala372Thr	PROT:P39880	CUX1	A	372	T	A372T	Likely benign	0	1	41	19
MUT:CUX1:Ala464Thr	PROT:P39880	CUX1	A	464	T	A464T	Benign	0	1	41	3
MUT:CUX1:Arg1368Gln	PROT:P39880	CUX1	R	1368	Q	R1368Q	Likely benign	0	1	41	11
MUT:CUX1:Arg208Gln	PROT:P39880	CUX1	R	208	Q	R208Q	Benign/Likely benign	0	1	41	2
MUT:CUX1:Arg254Ser	PROT:P39880	CUX1	R	254	S	R254S	Likely pathogenic	1	1	41	48
MUT:CUX1:Arg467Cys	PROT:P39880	CUX1	R	467	C	R467C	Likely benign	0	1	41	0
MUT:CUX1:Arg578Cys	PROT:P39880	CUX1	R	578	C	R578C	Likely benign	0	1	41	33
MUT:CUX1:Asp725Asn	PROT:P39880	CUX1	D	725	N	D725N	Likely benign	0	1	41	4
MUT:CUX1:Gly1461Asp	PROT:P39880	CUX1	G	1461	D	G1461D	Likely benign	0	1	41	35
MUT:CUX1:Gly698Ser	PROT:P39880	CUX1	G	698	S	G698S	Likely benign	0	1	41	19
MUT:CUX1:Gly848Ser	PROT:P39880	CUX1	G	848	S	G848S	Likely benign	0	1	41	2
MUT:CUX1:Gly855Ser	PROT:P39880	CUX1	G	855	S	G855S	Likely benign	0	1	41	5
MUT:CUX1:Leu101Ile	PROT:P39880	CUX1	L	101	I	L101I	Likely benign	0	1	41	105
MUT:CUX1:Leu1402Val	PROT:P39880	CUX1	L	1402	V	L1402V	Likely benign	0	1	41	22
MUT:CUX1:Leu162Phe	PROT:P39880	CUX1	L	162	F	L162F	Likely benign	0	1	41	44
MUT:CUX1:Leu386Met	PROT:P39880	CUX1	L	386	M	L386M	Likely benign	0	1	41	5
MUT:CUX1:Leu525Val	PROT:P39880	CUX1	L	525	V	L525V	Likely benign	0	1	41	58
MUT:CUX1:Leu784Val	PROT:P39880	CUX1	L	784	V	L784V	Likely benign	0	1	41	29
MUT:CUX1:Lys850Arg	PROT:P39880	CUX1	K	850	R	K850R	Likely benign	0	1	41	0
MUT:CUX1:Met551Ile	PROT:P39880	CUX1	M	551	I	M551I	Likely benign	0	1	41	60
MUT:CUX1:Met919Leu	PROT:P39880	CUX1	M	919	L	M919L	Likely benign	0	1	41	10
MUT:CUX1:Pro1105Leu	PROT:P39880	CUX1	P	1105	L	P1105L	Likely benign	0	1	41	1
MUT:CUX1:Pro1435Arg	PROT:P39880	CUX1	P	1435	R	P1435R	Likely benign	0	1	41	55
MUT:CUX1:Pro1439Leu	PROT:P39880	CUX1	P	1439	L	P1439L	Likely benign	0	1	41	57
MUT:CUX1:Ser469Gly	PROT:P39880	CUX1	S	469	G	S469G	Likely benign	0	1	41	2
MUT:CUX1:Thr18Ser	PROT:P39880	CUX1	T	18	S	T18S	Likely benign	0	1	41	188
MUT:CUX1:Thr567Ala	PROT:P39880	CUX1	T	567	A	T567A	Likely benign	0	1	41	44
MUT:CUX1:Trp882Arg	PROT:P39880	CUX1	W	882	R	W882R	Likely benign	0	1	41	5
MUT:CUX1:Val1217Ile	PROT:P39880	CUX1	V	1217	I	V1217I	Likely benign	0	1	41	1
MUT:CUX1:Val806Leu	PROT:P39880	CUX1	V	806	L	V806L	Likely benign	0	1	41	11
MUT:CUX1:Val88Ile	PROT:P39880	CUX1	V	88	I	V88I	Likely benign	0	1	41	118
MUT:CWF19L1:Arg523His	PROT:Q69YN2	CWF19L1	R	523	H	R523H	Benign	0	2	6	4
MUT:CWF19L1:Cys160Tyr	PROT:Q69YN2	CWF19L1	C	160	Y	C160Y	Benign	0	6	6	137
MUT:CWF19L1:Gly357Val	PROT:Q69YN2	CWF19L1	G	357	V	G357V	Pathogenic	1	1	6	37
MUT:CWF19L1:Gly86Glu	PROT:Q69YN2	CWF19L1	G	86	E	G86E	Likely benign	0	1	6	211
MUT:CWF19L1:His314Tyr	PROT:Q69YN2	CWF19L1	H	314	Y	H314Y	Benign/Likely benign	0	1	6	6
MUT:CWF19L1:Ile151Ser	PROT:Q69YN2	CWF19L1	I	151	S	I151S	Likely pathogenic	1	1	6	146
MUT:CWF19L1:Ile424Val	PROT:Q69YN2	CWF19L1	I	424	V	I424V	Likely benign	0	1	6	9
MUT:CWF19L1:Phe146Tyr	PROT:Q69YN2	CWF19L1	F	146	Y	F146Y	Likely benign	0	1	6	151
MUT:CWF19L1:Phe194Leu	PROT:Q69YN2	CWF19L1	F	194	L	F194L	Likely benign	0	1	6	103
MUT:CWF19L1:Thr186Met	PROT:Q69YN2	CWF19L1	T	186	M	T186M	Likely benign	0	1	6	111
MUT:CWF19L1:Tyr532Phe	PROT:Q69YN2	CWF19L1	Y	532	F	Y532F	Likely benign	0	1	6	5
MUT:CWH43:Ala626Val	PROT:Q9H720	CWH43	A	626	V	A626V	Benign	0	2	1	40
MUT:CYBA:Ala124Val	PROT:P13498	CYBA	A	124	V	A124V	Pathogenic/Likely pathogenic	1	3	10	13
MUT:CYBA:Ala125Thr	PROT:P13498	CYBA	A	125	T	A125T	Pathogenic	1	1	10	12
MUT:CYBA:Arg90Gln	PROT:P13498	CYBA	R	90	Q	R90Q	Pathogenic/Likely pathogenic	1	2	10	2
MUT:CYBA:Arg90Gly	PROT:P13498	CYBA	R	90	G	R90G	Likely pathogenic	1	3	10	2
MUT:CYBA:Arg90Pro	PROT:P13498	CYBA	R	90	P	R90P	Likely pathogenic	1	1	10	2
MUT:CYBA:Arg90Trp	PROT:P13498	CYBA	R	90	W	R90W	Pathogenic/Likely pathogenic	1	2	10	2
MUT:CYBA:Glu129Lys	PROT:P13498	CYBA	E	129	K	E129K	Likely pathogenic	1	1	10	8
MUT:CYBA:Gly24Arg	PROT:P13498	CYBA	G	24	R	G24R	Pathogenic/Likely pathogenic	1	2	10	36
MUT:CYBA:Lys60Thr	PROT:P13498	CYBA	K	60	T	K60T	Benign/Likely benign	0	2	10	0
MUT:CYBA:Met1Val	PROT:P13498	CYBA	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	10	59
MUT:CYBA:Pro156Gln	PROT:P13498	CYBA	P	156	Q	P156Q	Likely pathogenic	1	2	10	3
MUT:CYBA:Pro189Arg	PROT:P13498	CYBA	P	189	R	P189R	Likely benign	0	1	10	21
MUT:CYBA:Ser118Arg	PROT:P13498	CYBA	S	118	R	S118R	Pathogenic/Likely pathogenic	1	2	10	19
MUT:CYBA:Tyr72His	PROT:P13498	CYBA	Y	72	H	Y72H	Benign	0	4	10	1
MUT:CYBA:Val174Ala	PROT:P13498	CYBA	V	174	A	V174A	Benign	0	2	10	6
MUT:CYBRD1:Ser15Leu	PROT:Q53TN4	CYBRD1	S	15	L	S15L	Likely benign	0	1	8	217
MUT:CYCS:Ala97Asp	PROT:P99999	CYCS	A	97	D	A97D	Likely pathogenic	1	1	11	43
MUT:CYCS:Gly42Ser	PROT:P99999	CYCS	G	42	S	G42S	Likely pathogenic	1	2	11	1
MUT:CYCS:His27Tyr	PROT:P99999	CYCS	H	27	Y	H27Y	Pathogenic/Likely pathogenic	1	1	11	13
MUT:CYCS:Leu99Val	PROT:P99999	CYCS	L	99	V	L99V	Likely pathogenic	1	1	11	45
MUT:CYCS:Tyr49His	PROT:P99999	CYCS	Y	49	H	Y49H	Pathogenic	1	1	11	0
MUT:CYLC2:Glu309Lys	PROT:Q14093	CYLC2	E	309	K	E309K	Likely benign	0	1	2	79
MUT:CYP11B2:Ala29Thr	PROT:P19099	CYP11B2	A	29	T	A29T	Benign	0	4	1	76
MUT:CYP11B2:Ala320Val	PROT:P19099	CYP11B2	A	320	V	A320V	Likely benign	0	3	1	215
MUT:CYP11B2:Ala414Pro	PROT:P19099	CYP11B2	A	414	P	A414P	Benign	0	1	1	309
MUT:CYP11B2:Arg30Gln	PROT:P19099	CYP11B2	R	30	Q	R30Q	Benign/Likely benign	0	4	1	75
MUT:CYP11B2:Arg374Gln	PROT:P19099	CYP11B2	R	374	Q	R374Q	Likely pathogenic	1	1	1	269
MUT:CYP11B2:Arg374Gly	PROT:P19099	CYP11B2	R	374	G	R374G	Likely pathogenic	1	1	1	269
MUT:CYP11B2:Arg374Trp	PROT:P19099	CYP11B2	R	374	W	R374W	Likely pathogenic	1	1	1	269
MUT:CYP11B2:Arg448Cys	PROT:P19099	CYP11B2	R	448	C	R448C	Likely pathogenic	1	1	1	343
MUT:CYP11B2:Arg448Gly	PROT:P19099	CYP11B2	R	448	G	R448G	Likely pathogenic	1	1	1	343
MUT:CYP11B2:Asn281Ser	PROT:P19099	CYP11B2	N	281	S	N281S	Benign/Likely benign	0	3	1	176
MUT:CYP11B2:Cys10Trp	PROT:P19099	CYP11B2	C	10	W	C10W	Likely benign	0	1	1	95
MUT:CYP11B2:Glu198Asp	PROT:P19099	CYP11B2	E	198	D	E198D	Pathogenic/Likely pathogenic	1	1	1	93
MUT:CYP11B2:Gly134Arg	PROT:P19099	CYP11B2	G	134	R	G134R	Likely pathogenic	1	1	1	29
MUT:CYP11B2:Gly435Ser	PROT:P19099	CYP11B2	G	435	S	G435S	Benign	0	4	1	330
MUT:CYP11B2:His214Asp	PROT:P19099	CYP11B2	H	214	D	H214D	Benign/Likely benign	0	3	1	109
MUT:CYP11B2:Ile263Asn	PROT:P19099	CYP11B2	I	263	N	I263N	Pathogenic	1	3	1	158
MUT:CYP11B2:Ile339Asn	PROT:P19099	CYP11B2	I	339	N	I339N	Benign	0	3	1	234
MUT:CYP11B2:Ile339Thr	PROT:P19099	CYP11B2	I	339	T	I339T	Benign	0	4	1	234
MUT:CYP11B2:Ile339Val	PROT:P19099	CYP11B2	I	339	V	I339V	Benign	0	1	1	234
MUT:CYP11B2:Ile397Asn	PROT:P19099	CYP11B2	I	397	N	I397N	Likely pathogenic	1	1	1	292
MUT:CYP11B2:Leu461Pro	PROT:P19099	CYP11B2	L	461	P	L461P	Likely pathogenic	1	2	1	356
MUT:CYP11B2:Lys173Arg	PROT:P19099	CYP11B2	K	173	R	K173R	Benign	0	4	1	68
MUT:CYP11B2:Pro159Leu	PROT:P19099	CYP11B2	P	159	L	P159L	Likely benign	0	3	1	54
MUT:CYP11B2:Pro491Ser	PROT:P19099	CYP11B2	P	491	S	P491S	Pathogenic	1	1	1	386
MUT:CYP11B2:Ser308Pro	PROT:P19099	CYP11B2	S	308	P	S308P	Pathogenic/Likely pathogenic	1	3	1	203
MUT:CYP11B2:Ser315Arg	PROT:P19099	CYP11B2	S	315	R	S315R	Likely pathogenic	1	1	1	210
MUT:CYP11B2:Thr185Ile	PROT:P19099	CYP11B2	T	185	I	T185I	Pathogenic	1	3	1	80
MUT:CYP11B2:Thr318Met	PROT:P19099	CYP11B2	T	318	M	T318M	Pathogenic/Likely pathogenic	1	1	1	213
MUT:CYP11B2:Thr498Ala	PROT:P19099	CYP11B2	T	498	A	T498A	Likely pathogenic	1	3	1	393
MUT:CYP11B2:Val386Ala	PROT:P19099	CYP11B2	V	386	A	V386A	Benign/Likely benign	0	3	1	281
MUT:CYP19A1:Arg159Cys	PROT:P11511	CYP19A1	R	159	C	R159C	Benign	0	1	5	3
MUT:CYP19A1:Arg192Cys	PROT:P11511	CYP19A1	R	192	C	R192C	Likely pathogenic	1	1	5	30
MUT:CYP19A1:Arg192His	PROT:P11511	CYP19A1	R	192	H	R192H	Likely pathogenic	1	1	5	30
MUT:CYP19A1:Arg264Cys	PROT:P11511	CYP19A1	R	264	C	R264C	Benign	0	1	5	97
MUT:CYP19A1:Arg365Gln	PROT:P11511	CYP19A1	R	365	Q	R365Q	Likely pathogenic	1	1	5	4
MUT:CYP19A1:Arg375Cys	PROT:P11511	CYP19A1	R	375	C	R375C	Likely pathogenic	1	1	5	14
MUT:CYP19A1:Arg375His	PROT:P11511	CYP19A1	R	375	H	R375H	Likely pathogenic	1	1	5	14
MUT:CYP19A1:Arg435Cys	PROT:P11511	CYP19A1	R	435	C	R435C	Pathogenic	1	1	5	6
MUT:CYP19A1:Arg435His	PROT:P11511	CYP19A1	R	435	H	R435H	Likely pathogenic	1	1	5	6
MUT:CYP19A1:Arg457Gln	PROT:P11511	CYP19A1	R	457	Q	R457Q	Likely benign	0	1	5	16
MUT:CYP19A1:Cys275Arg	PROT:P11511	CYP19A1	C	275	R	C275R	Likely benign	0	1	5	86
MUT:CYP19A1:Cys437Tyr	PROT:P11511	CYP19A1	C	437	Y	C437Y	Likely pathogenic	1	1	5	4
MUT:CYP19A1:Glu210Lys	PROT:P11511	CYP19A1	E	210	K	E210K	Pathogenic	1	1	5	48
MUT:CYP19A1:Pro326Ser	PROT:P11511	CYP19A1	P	326	S	P326S	Likely benign	0	2	5	35
MUT:CYP19A1:Thr201Met	PROT:P11511	CYP19A1	T	201	M	T201M	Benign	0	1	5	39
MUT:CYP19A1:Trp39Arg	PROT:P11511	CYP19A1	W	39	R	W39R	Benign/Likely benign	0	1	5	79
MUT:CYP19A1:Val370Met	PROT:P11511	CYP19A1	V	370	M	V370M	Likely pathogenic	1	1	5	9
MUT:CYP27A1:Ala169Val	PROT:Q02318	CYP27A1	A	169	V	A169V	Benign/Likely benign	0	1	1	351
MUT:CYP27A1:Ala216Pro	PROT:Q02318	CYP27A1	A	216	P	A216P	Pathogenic/Likely pathogenic	1	2	1	304
MUT:CYP27A1:Ala335Val	PROT:Q02318	CYP27A1	A	335	V	A335V	Likely pathogenic	1	1	1	185
MUT:CYP27A1:Ala491Ser	PROT:Q02318	CYP27A1	A	491	S	A491S	Benign/Likely benign	0	2	1	29
MUT:CYP27A1:Ala502Asp	PROT:Q02318	CYP27A1	A	502	D	A502D	Benign/Likely benign	0	2	1	18
MUT:CYP27A1:Arg127Gln	PROT:Q02318	CYP27A1	R	127	Q	R127Q	Pathogenic	1	2	1	393
MUT:CYP27A1:Arg127Gly	PROT:Q02318	CYP27A1	R	127	G	R127G	Likely pathogenic	1	1	1	393
MUT:CYP27A1:Arg127Trp	PROT:Q02318	CYP27A1	R	127	W	R127W	Pathogenic	1	2	1	393
MUT:CYP27A1:Arg137Gln	PROT:Q02318	CYP27A1	R	137	Q	R137Q	Pathogenic/Likely pathogenic	1	2	1	383
MUT:CYP27A1:Arg137Gly	PROT:Q02318	CYP27A1	R	137	G	R137G	Likely pathogenic	1	1	1	383
MUT:CYP27A1:Arg137Pro	PROT:Q02318	CYP27A1	R	137	P	R137P	Likely pathogenic	1	1	1	383
MUT:CYP27A1:Arg225Cys	PROT:Q02318	CYP27A1	R	225	C	R225C	Benign	0	1	1	295
MUT:CYP27A1:Arg395Cys	PROT:Q02318	CYP27A1	R	395	C	R395C	Pathogenic/Likely pathogenic	1	3	1	125
MUT:CYP27A1:Arg395His	PROT:Q02318	CYP27A1	R	395	H	R395H	Pathogenic/Likely pathogenic	1	1	1	125
MUT:CYP27A1:Arg395Ser	PROT:Q02318	CYP27A1	R	395	S	R395S	Pathogenic/Likely pathogenic	1	1	1	125
MUT:CYP27A1:Arg405Gln	PROT:Q02318	CYP27A1	R	405	Q	R405Q	Pathogenic/Likely pathogenic	1	2	1	115
MUT:CYP27A1:Arg405Trp	PROT:Q02318	CYP27A1	R	405	W	R405W	Pathogenic/Likely pathogenic	1	1	1	115
MUT:CYP27A1:Arg474Gln	PROT:Q02318	CYP27A1	R	474	Q	R474Q	Pathogenic	1	2	1	46
MUT:CYP27A1:Arg474Pro	PROT:Q02318	CYP27A1	R	474	P	R474P	Likely pathogenic	1	1	1	46
MUT:CYP27A1:Arg474Trp	PROT:Q02318	CYP27A1	R	474	W	R474W	Pathogenic/Likely pathogenic	1	2	1	46
MUT:CYP27A1:Arg479Cys	PROT:Q02318	CYP27A1	R	479	C	R479C	Pathogenic/Likely pathogenic	1	2	1	41
MUT:CYP27A1:Arg479Leu	PROT:Q02318	CYP27A1	R	479	L	R479L	Likely pathogenic	1	1	1	41
MUT:CYP27A1:Arg479Pro	PROT:Q02318	CYP27A1	R	479	P	R479P	Likely pathogenic	1	1	1	41
MUT:CYP27A1:Arg479Ser	PROT:Q02318	CYP27A1	R	479	S	R479S	Pathogenic	1	1	1	41
MUT:CYP27A1:Arg513Cys	PROT:Q02318	CYP27A1	R	513	C	R513C	Pathogenic/Likely pathogenic	1	2	1	7
MUT:CYP27A1:Asp354Gly	PROT:Q02318	CYP27A1	D	354	G	D354G	Pathogenic	1	1	1	166
MUT:CYP27A1:Gly145Glu	PROT:Q02318	CYP27A1	G	145	E	G145E	Pathogenic	1	1	1	375
MUT:CYP27A1:Lys259Arg	PROT:Q02318	CYP27A1	K	259	R	K259R	Pathogenic/Likely pathogenic	1	1	1	261
MUT:CYP27A1:Lys496Glu	PROT:Q02318	CYP27A1	K	496	E	K496E	Likely benign	0	1	1	24
MUT:CYP27A1:Met130Lys	PROT:Q02318	CYP27A1	M	130	K	M130K	Likely pathogenic	1	1	1	390
MUT:CYP27A1:Met1Val	PROT:Q02318	CYP27A1	M	1	V	M1V	Likely pathogenic	1	1	1	519
MUT:CYP27A1:Pro401Arg	PROT:Q02318	CYP27A1	P	401	R	P401R	Pathogenic	1	1	1	119
MUT:CYP27A1:Pro468Ser	PROT:Q02318	CYP27A1	P	468	S	P468S	Pathogenic	1	1	1	52
MUT:CYP27A1:Thr175Met	PROT:Q02318	CYP27A1	T	175	M	T175M	Benign/Likely benign	0	1	1	345
MUT:CYP27A1:Thr339Met	PROT:Q02318	CYP27A1	T	339	M	T339M	Pathogenic/Likely pathogenic	1	2	1	181
MUT:CYP27A1:Trp268Cys	PROT:Q02318	CYP27A1	W	268	C	W268C	Pathogenic/Likely pathogenic	1	1	1	252
MUT:CYP27A1:Val86Met	PROT:Q02318	CYP27A1	V	86	M	V86M	Benign/Likely benign	0	1	1	434
MUT:CYP27B1:Ala129Thr	PROT:O15528	CYP27B1	A	129	T	A129T	Likely benign	0	1	1	165
MUT:CYP27B1:Ala129Val	PROT:O15528	CYP27B1	A	129	V	A129V	Likely pathogenic	1	2	1	165
MUT:CYP27B1:Arg107His	PROT:O15528	CYP27B1	R	107	H	R107H	Likely pathogenic	1	2	1	187
MUT:CYP27B1:Arg335Pro	PROT:O15528	CYP27B1	R	335	P	R335P	Pathogenic	1	1	1	41
MUT:CYP27B1:Arg379Ser	PROT:O15528	CYP27B1	R	379	S	R379S	Likely pathogenic	1	1	1	85
MUT:CYP27B1:Arg389Cys	PROT:O15528	CYP27B1	R	389	C	R389C	Pathogenic	1	1	1	95
MUT:CYP27B1:Arg389Gly	PROT:O15528	CYP27B1	R	389	G	R389G	Pathogenic	1	1	1	95
MUT:CYP27B1:Arg389His	PROT:O15528	CYP27B1	R	389	H	R389H	Pathogenic/Likely pathogenic	1	2	1	95
MUT:CYP27B1:Arg429Pro	PROT:O15528	CYP27B1	R	429	P	R429P	Pathogenic	1	2	1	135
MUT:CYP27B1:Arg432Cys	PROT:O15528	CYP27B1	R	432	C	R432C	Pathogenic/Likely pathogenic	1	1	1	138
MUT:CYP27B1:Arg453Cys	PROT:O15528	CYP27B1	R	453	C	R453C	Pathogenic/Likely pathogenic	1	3	1	159
MUT:CYP27B1:Arg453His	PROT:O15528	CYP27B1	R	453	H	R453H	Pathogenic/Likely pathogenic	1	2	1	159
MUT:CYP27B1:Arg453Ser	PROT:O15528	CYP27B1	R	453	S	R453S	Likely pathogenic	1	1	1	159
MUT:CYP27B1:Arg459Cys	PROT:O15528	CYP27B1	R	459	C	R459C	Pathogenic/Likely pathogenic	1	1	1	165
MUT:CYP27B1:Arg459His	PROT:O15528	CYP27B1	R	459	H	R459H	Pathogenic/Likely pathogenic	1	1	1	165
MUT:CYP27B1:Arg459Leu	PROT:O15528	CYP27B1	R	459	L	R459L	Pathogenic/Likely pathogenic	1	1	1	165
MUT:CYP27B1:Arg459Pro	PROT:O15528	CYP27B1	R	459	P	R459P	Likely pathogenic	1	1	1	165
MUT:CYP27B1:Arg492Trp	PROT:O15528	CYP27B1	R	492	W	R492W	Pathogenic/Likely pathogenic	1	1	1	198
MUT:CYP27B1:Asn387Thr	PROT:O15528	CYP27B1	N	387	T	N387T	Likely pathogenic	1	1	1	93
MUT:CYP27B1:Asp164Asn	PROT:O15528	CYP27B1	D	164	N	D164N	Likely pathogenic	1	1	1	130
MUT:CYP27B1:Cys411Tyr	PROT:O15528	CYP27B1	C	411	Y	C411Y	Likely pathogenic	1	1	1	117
MUT:CYP27B1:Gly102Glu	PROT:O15528	CYP27B1	G	102	E	G102E	Pathogenic	1	1	1	192
MUT:CYP27B1:Gly125Glu	PROT:O15528	CYP27B1	G	125	E	G125E	Likely pathogenic	1	1	1	169
MUT:CYP27B1:Gly125Val	PROT:O15528	CYP27B1	G	125	V	G125V	Likely pathogenic	1	1	1	169
MUT:CYP27B1:Gly156Glu	PROT:O15528	CYP27B1	G	156	E	G156E	Likely benign	0	1	1	138
MUT:CYP27B1:Gly208Val	PROT:O15528	CYP27B1	G	208	V	G208V	Likely pathogenic	1	1	1	86
MUT:CYP27B1:Gly57Val	PROT:O15528	CYP27B1	G	57	V	G57V	Pathogenic/Likely pathogenic	1	1	1	237
MUT:CYP27B1:His441Tyr	PROT:O15528	CYP27B1	H	441	Y	H441Y	Likely pathogenic	1	1	1	147
MUT:CYP27B1:Leu343Phe	PROT:O15528	CYP27B1	L	343	F	L343F	Pathogenic	1	1	1	49
MUT:CYP27B1:Met1Ile	PROT:O15528	CYP27B1	M	1	I	M1I	Likely pathogenic	1	1	1	293
MUT:CYP27B1:Pro112Leu	PROT:O15528	CYP27B1	P	112	L	P112L	Pathogenic/Likely pathogenic	1	1	1	182
MUT:CYP27B1:Pro143Leu	PROT:O15528	CYP27B1	P	143	L	P143L	Likely pathogenic	1	1	1	151
MUT:CYP27B1:Thr321Arg	PROT:O15528	CYP27B1	T	321	R	T321R	Pathogenic	1	1	1	27
MUT:CYP27B1:Thr409Ile	PROT:O15528	CYP27B1	T	409	I	T409I	Pathogenic/Likely pathogenic	1	1	1	115
MUT:CYP27B1:Val166Leu	PROT:O15528	CYP27B1	V	166	L	V166L	Benign	0	2	1	128
MUT:CYP2C8:Arg139Lys	PROT:P10632	CYP2C8	R	139	K	R139K	Benign	0	1	3	10
MUT:CYP2C8:Gly365Ser	PROT:P10632	CYP2C8	G	365	S	G365S	Likely benign	0	1	3	111
MUT:CYP2C8:Val181Ile	PROT:P10632	CYP2C8	V	181	I	V181I	Benign	0	1	3	52
MUT:CYP2D6:Ala237Ser	PROT:P10635	CYP2D6	A	237	S	A237S	Benign/Likely benign	0	1	1	102
MUT:CYP2D6:Val11Met	PROT:P10635	CYP2D6	V	11	M	V11M	Likely benign	0	1	1	124
MUT:CYP2E1:His457Leu	PROT:P05181	CYP2E1	H	457	L	H457L	Benign	0	3	25	4
MUT:CYP2R1:Leu99Pro	PROT:Q6VVX0	CYP2R1	L	99	P	L99P	Pathogenic/Likely pathogenic	1	4	3	58
MUT:CYP2R1:Thr383Ala	PROT:Q6VVX0	CYP2R1	T	383	A	T383A	Likely benign	0	1	3	15
MUT:CYP3A4:Ile301Thr	PROT:P08684	CYP3A4	I	301	T	I301T	Pathogenic	1	1	19	37
MUT:CYP4F2:Ala16Pro	PROT:P78329	CYP4F2	A	16	P	A16P	Benign	0	1	7	136
MUT:CYP4F2:Gly185Val	PROT:P78329	CYP4F2	G	185	V	G185V	Benign	0	5	7	33
MUT:CYP4F2:Leu519Met	PROT:P78329	CYP4F2	L	519	M	L519M	Likely benign	0	1	7	18
MUT:CYP4F2:Thr472Ala	PROT:P78329	CYP4F2	T	472	A	T472A	Likely benign	0	1	7	29
MUT:CYP7B1:Arg324Cys	PROT:O75881	CYP7B1	R	324	C	R324C	Likely benign	0	1	8	40
MUT:CYP7B1:Arg324His	PROT:O75881	CYP7B1	R	324	H	R324H	Benign	0	3	8	40
MUT:CYP7B1:Arg324Pro	PROT:O75881	CYP7B1	R	324	P	R324P	Benign	0	1	8	40
MUT:CYP7B1:Arg388Gly	PROT:O75881	CYP7B1	R	388	G	R388G	Likely pathogenic	1	1	8	21
MUT:CYP7B1:Arg417Cys	PROT:O75881	CYP7B1	R	417	C	R417C	Pathogenic/Likely pathogenic	1	2	8	31
MUT:CYP7B1:Arg417Gly	PROT:O75881	CYP7B1	R	417	G	R417G	Likely pathogenic	1	1	8	31
MUT:CYP7B1:Arg417His	PROT:O75881	CYP7B1	R	417	H	R417H	Pathogenic/Likely pathogenic	1	4	8	31
MUT:CYP7B1:Arg486Cys	PROT:O75881	CYP7B1	R	486	C	R486C	Pathogenic/Likely pathogenic	1	5	8	38
MUT:CYP7B1:Asn296Lys	PROT:O75881	CYP7B1	N	296	K	N296K	Likely pathogenic	1	1	8	40
MUT:CYP7B1:Glu321Lys	PROT:O75881	CYP7B1	E	321	K	E321K	Pathogenic/Likely pathogenic	1	2	8	43
MUT:CYP7B1:Gly421Glu	PROT:O75881	CYP7B1	G	421	E	G421E	Likely benign	0	1	8	27
MUT:CYP7B1:Gly451Ser	PROT:O75881	CYP7B1	G	451	S	G451S	Likely pathogenic	1	1	8	3
MUT:CYP7B1:Gly57Arg	PROT:O75881	CYP7B1	G	57	R	G57R	Pathogenic	1	1	8	138
MUT:CYP7B1:Leu19Pro	PROT:O75881	CYP7B1	L	19	P	L19P	Benign	0	3	8	176
MUT:CYP7B1:Phe216Ser	PROT:O75881	CYP7B1	F	216	S	F216S	Pathogenic	1	1	8	2
MUT:CYP7B1:Phe470Ile	PROT:O75881	CYP7B1	F	470	I	F470I	Pathogenic	1	1	8	22
MUT:CYP7B1:Pro46Arg	PROT:O75881	CYP7B1	P	46	R	P46R	Likely pathogenic	1	1	8	149
MUT:CYP7B1:Pro66Arg	PROT:O75881	CYP7B1	P	66	R	P66R	Pathogenic	1	1	8	129
MUT:CYP7B1:Ser363Phe	PROT:O75881	CYP7B1	S	363	F	S363F	Pathogenic/Likely pathogenic	1	3	8	1
MUT:CYP7B1:Thr297Ala	PROT:O75881	CYP7B1	T	297	A	T297A	Pathogenic	1	4	8	41
MUT:DAAM1:Asn865His	PROT:Q9Y4D1	DAAM1	N	865	H	N865H	Benign	0	1	10	23
MUT:DAB1:Ala265Thr	PROT:O75553	DAB1	A	265	T	A265T	Likely benign	0	1	7	33
MUT:DAB1:His106Gln	PROT:O75553	DAB1	H	106	Q	H106Q	Likely benign	0	1	7	79
MUT:DAB1:Met410Thr	PROT:O75553	DAB1	M	410	T	M410T	Likely benign	0	1	7	81
MUT:DAB1:Pro255Ser	PROT:O75553	DAB1	P	255	S	P255S	Likely pathogenic	1	1	7	23
MUT:DAB1:Ser287Asn	PROT:O75553	DAB1	S	287	N	S287N	Benign	0	1	7	55
MUT:DAG1:Arg679His	PROT:Q14118	DAG1	R	679	H	R679H	Likely benign	0	1	22	8
MUT:DAG1:Asp111Asn	PROT:Q14118	DAG1	D	111	N	D111N	Benign/Likely benign	0	2	22	115
MUT:DAG1:Ile87Val	PROT:Q14118	DAG1	I	87	V	I87V	Benign/Likely benign	0	1	22	139
MUT:DAG1:Ser14Trp	PROT:Q14118	DAG1	S	14	W	S14W	Benign	0	2	22	212
MUT:DAGLA:Ala578Gly	PROT:Q9Y4D2	DAGLA	A	578	G	A578G	Likely benign	0	1	13	90
MUT:DAGLA:Ala749Val	PROT:Q9Y4D2	DAGLA	A	749	V	A749V	Likely benign	0	1	13	6
MUT:DAGLA:Ala750Val	PROT:Q9Y4D2	DAGLA	A	750	V	A750V	Likely benign	0	1	13	7
MUT:DAGLA:Arg901Cys	PROT:Q9Y4D2	DAGLA	R	901	C	R901C	Likely benign	0	1	13	35
MUT:DAGLA:Asp877Glu	PROT:Q9Y4D2	DAGLA	D	877	E	D877E	Likely benign	0	1	13	11
MUT:DAGLA:Gly735Val	PROT:Q9Y4D2	DAGLA	G	735	V	G735V	Benign	0	1	13	8
MUT:DAGLA:Pro889Leu	PROT:Q9Y4D2	DAGLA	P	889	L	P889L	Benign	0	1	13	23
MUT:DAGLA:Ser954Thr	PROT:Q9Y4D2	DAGLA	S	954	T	S954T	Likely benign	0	1	13	88
MUT:DAGLA:Val419Met	PROT:Q9Y4D2	DAGLA	V	419	M	V419M	Likely benign	0	1	13	8
MUT:DAP3:Cys395Tyr	PROT:P51398	DAP3	C	395	Y	C395Y	Pathogenic/Likely pathogenic	1	2	26	17
MUT:DAP3:Glu392Lys	PROT:P51398	DAP3	E	392	K	E392K	Likely pathogenic	1	2	26	14
MUT:DAP3:Leu380Arg	PROT:P51398	DAP3	L	380	R	L380R	Likely pathogenic	1	1	26	2
MUT:DBR1:Asp484Gly	PROT:Q9UK59	DBR1	D	484	G	D484G	Likely benign	0	1	8	1
MUT:DBR1:Ser451Leu	PROT:Q9UK59	DBR1	S	451	L	S451L	Likely benign	0	1	8	34
MUT:DBR1:Thr496Ala	PROT:Q9UK59	DBR1	T	496	A	T496A	Likely benign	0	1	8	3
MUT:DCAF4:Ser325Gly	PROT:Q8WV16	DCAF4	S	325	G	S325G	Likely benign	0	17	1	135
MUT:DCBLD2:Asp388Asn	PROT:Q96PD2	DCBLD2	D	388	N	D388N	Likely benign	0	1	34	3
MUT:DCBLD2:Ile672Val	PROT:Q96PD2	DCBLD2	I	672	V	I672V	Likely benign	0	1	34	7
MUT:DCDC2:Arg69Gln	PROT:Q9UHG0	DCDC2	R	69	Q	R69Q	Likely benign	0	1	13	26
MUT:DCDC2:Asp26His	PROT:Q9UHG0	DCDC2	D	26	H	D26H	Likely pathogenic	1	1	13	4
MUT:DCDC2:Gln424Pro	PROT:Q9UHG0	DCDC2	Q	424	P	Q424P	Pathogenic	1	2	13	9
MUT:DCDC2:Lys17Asn	PROT:Q9UHG0	DCDC2	K	17	N	K17N	Pathogenic	1	1	13	1
MUT:DCDC2:Ser221Gly	PROT:Q9UHG0	DCDC2	S	221	G	S221G	Benign	0	3	13	7
MUT:DCLRE1C:Ala140Val	PROT:Q96SD1	DCLRE1C	A	140	V	A140V	Likely benign	0	2	23	17
MUT:DCLRE1C:Ala28Pro	PROT:Q96SD1	DCLRE1C	A	28	P	A28P	Likely pathogenic	1	1	23	63
MUT:DCLRE1C:Arg138Thr	PROT:Q96SD1	DCLRE1C	R	138	T	R138T	Likely pathogenic	1	1	23	19
MUT:DCLRE1C:Arg191Gln	PROT:Q96SD1	DCLRE1C	R	191	Q	R191Q	Likely benign	0	3	23	34
MUT:DCLRE1C:Arg445His	PROT:Q96SD1	DCLRE1C	R	445	H	R445H	Likely benign	0	2	23	58
MUT:DCLRE1C:Arg76Thr	PROT:Q96SD1	DCLRE1C	R	76	T	R76T	Benign	0	3	23	15
MUT:DCLRE1C:Asp136Asn	PROT:Q96SD1	DCLRE1C	D	136	N	D136N	Likely pathogenic	1	2	23	21
MUT:DCLRE1C:Cys116Arg	PROT:Q96SD1	DCLRE1C	C	116	R	C116R	Likely pathogenic	1	1	23	25
MUT:DCLRE1C:Glu632Lys	PROT:Q96SD1	DCLRE1C	E	632	K	E632K	Benign	0	2	23	13
MUT:DCLRE1C:Gly118Val	PROT:Q96SD1	DCLRE1C	G	118	V	G118V	Pathogenic/Likely pathogenic	1	3	23	27
MUT:DCLRE1C:Gly126Asp	PROT:Q96SD1	DCLRE1C	G	126	D	G126D	Likely pathogenic	1	1	23	31
MUT:DCLRE1C:Gly135Arg	PROT:Q96SD1	DCLRE1C	G	135	R	G135R	Likely pathogenic	1	1	23	22
MUT:DCLRE1C:Gly135Glu	PROT:Q96SD1	DCLRE1C	G	135	E	G135E	Likely pathogenic	1	1	23	22
MUT:DCLRE1C:Gly153Arg	PROT:Q96SD1	DCLRE1C	G	153	R	G153R	Benign	0	14	23	4
MUT:DCLRE1C:Gly373Val	PROT:Q96SD1	DCLRE1C	G	373	V	G373V	Likely pathogenic	1	1	23	7
MUT:DCLRE1C:His243Arg	PROT:Q96SD1	DCLRE1C	H	243	R	H243R	Benign	0	2	23	8
MUT:DCLRE1C:His35Asp	PROT:Q96SD1	DCLRE1C	H	35	D	H35D	Pathogenic	1	2	23	56
MUT:DCLRE1C:Ile16Thr	PROT:Q96SD1	DCLRE1C	I	16	T	I16T	Likely pathogenic	1	4	23	75
MUT:DCLRE1C:Leu31Pro	PROT:Q96SD1	DCLRE1C	L	31	P	L31P	Likely pathogenic	1	1	23	60
MUT:DCLRE1C:Lys428Asn	PROT:Q96SD1	DCLRE1C	K	428	N	K428N	Benign	0	2	23	43
MUT:DCLRE1C:Met1Val	PROT:Q96SD1	DCLRE1C	M	1	V	M1V	Likely pathogenic	1	1	23	90
MUT:DCLRE1C:Pro112Leu	PROT:Q96SD1	DCLRE1C	P	112	L	P112L	Likely pathogenic	1	1	23	21
MUT:DCLRE1C:Pro171Arg	PROT:Q96SD1	DCLRE1C	P	171	R	P171R	Benign	0	3	23	14
MUT:DCLRE1C:Ser320Cys	PROT:Q96SD1	DCLRE1C	S	320	C	S320C	Benign	0	8	23	60
MUT:DCLRE1C:Ser32Cys	PROT:Q96SD1	DCLRE1C	S	32	C	S32C	Likely pathogenic	1	1	23	59
MUT:DCLRE1C:Ser32Phe	PROT:Q96SD1	DCLRE1C	S	32	F	S32F	Likely pathogenic	1	5	23	59
MUT:DCLRE1C:Ser635Arg	PROT:Q96SD1	DCLRE1C	S	635	R	S635R	Likely benign	0	1	23	10
MUT:DCLRE1C:Thr65Ile	PROT:Q96SD1	DCLRE1C	T	65	I	T65I	Pathogenic	1	2	23	26
MUT:DCLRE1C:Thr71Pro	PROT:Q96SD1	DCLRE1C	T	71	P	T71P	Likely pathogenic	1	1	23	20
MUT:DCLRE1C:Val186Leu	PROT:Q96SD1	DCLRE1C	V	186	L	V186L	Likely benign	0	2	23	29
MUT:DCLRE1C:Val57Phe	PROT:Q96SD1	DCLRE1C	V	57	F	V57F	Likely benign	0	4	23	34
MUT:DCPS:Gly226Asp	PROT:Q96C86	DCPS	G	226	D	G226D	Benign/Likely benign	0	2	7	84
MUT:DCPS:Ser290Ala	PROT:Q96C86	DCPS	S	290	A	S290A	Likely benign	0	1	7	28
MUT:DCPS:Val81Ile	PROT:Q96C86	DCPS	V	81	I	V81I	Likely benign	0	1	7	9
MUT:DCXR:Val212Ile	PROT:Q7Z4W1	DCXR	V	212	I	V212I	Likely benign	0	1	4	145
MUT:DDB1:Arg114His	PROT:Q16531	DDB1	R	114	H	R114H	Likely pathogenic	1	1	31	2
MUT:DDB1:Arg188Gln	PROT:Q16531	DDB1	R	188	Q	R188Q	Pathogenic	1	1	31	3
MUT:DDB1:Arg388Gln	PROT:Q16531	DDB1	R	388	Q	R388Q	Likely benign	0	1	31	5
MUT:DDB1:Glu213Lys	PROT:Q16531	DDB1	E	213	K	E213K	Likely pathogenic	1	1	31	9
MUT:DDB1:Glu785Lys	PROT:Q16531	DDB1	E	785	K	E785K	Likely pathogenic	1	1	31	30
MUT:DDB1:Phe429Val	PROT:Q16531	DDB1	F	429	V	F429V	Pathogenic	1	1	31	46
MUT:DDB1:Ser25Leu	PROT:Q16531	DDB1	S	25	L	S25L	Likely benign	0	1	31	91
MUT:DDB1:Trp411Arg	PROT:Q16531	DDB1	W	411	R	W411R	Likely benign	0	1	31	28
MUT:DDB2:Ala174Thr	PROT:Q92466	DDB2	A	174	T	A174T	Likely benign	0	1	10	11
MUT:DDB2:Arg273His	PROT:Q92466	DDB2	R	273	H	R273H	Pathogenic/Likely pathogenic	1	1	10	5
MUT:DDB2:Arg67His	PROT:Q92466	DDB2	R	67	H	R67H	Likely benign	0	1	10	17
MUT:DDB2:Asp307Tyr	PROT:Q92466	DDB2	D	307	Y	D307Y	Pathogenic	1	1	10	2
MUT:DDB2:Lys244Glu	PROT:Q92466	DDB2	K	244	E	K244E	Pathogenic	1	1	10	34
MUT:DDB2:Met215Thr	PROT:Q92466	DDB2	M	215	T	M215T	Likely benign	0	1	10	52
MUT:DDB2:Ser13Pro	PROT:Q92466	DDB2	S	13	P	S13P	Likely benign	0	1	10	11
MUT:DDB2:Val193Ile	PROT:Q92466	DDB2	V	193	I	V193I	Benign/Likely benign	0	1	10	30
MUT:DDHD1:Arg589Gln	PROT:Q8NEL9	DDHD1	R	589	Q	R589Q	Pathogenic	1	2	14	2
MUT:DDHD1:Arg815Lys	PROT:Q8NEL9	DDHD1	R	815	K	R815K	Likely pathogenic	1	1	14	84
MUT:DDHD1:Asp72Glu	PROT:Q8NEL9	DDHD1	D	72	E	D72E	Likely benign	0	1	14	106
MUT:DDHD1:Asp892Asn	PROT:Q8NEL9	DDHD1	D	892	N	D892N	Likely benign	0	1	14	161
MUT:DDHD1:Glu245Lys	PROT:Q8NEL9	DDHD1	E	245	K	E245K	Likely benign	0	1	14	60
MUT:DDHD1:Gly106Ala	PROT:Q8NEL9	DDHD1	G	106	A	G106A	Benign	0	1	14	72
MUT:DDHD1:Gly150Cys	PROT:Q8NEL9	DDHD1	G	150	C	G150C	Benign	0	2	14	28
MUT:DDHD1:Gly37Ala	PROT:Q8NEL9	DDHD1	G	37	A	G37A	Likely benign	0	2	14	141
MUT:DDHD1:Gly46Ser	PROT:Q8NEL9	DDHD1	G	46	S	G46S	Benign	0	2	14	132
MUT:DDHD1:Pro205Leu	PROT:Q8NEL9	DDHD1	P	205	L	P205L	Likely benign	0	1	14	20
MUT:DDHD1:Thr770Ala	PROT:Q8NEL9	DDHD1	T	770	A	T770A	Likely benign	0	1	14	39
MUT:DDRGK1:Ala109Val	PROT:Q96HY6	DDRGK1	A	109	V	A109V	Likely benign	0	1	7	5
MUT:DDRGK1:Arg145Trp	PROT:Q96HY6	DDRGK1	R	145	W	R145W	Benign	0	1	7	31
MUT:DDRGK1:Arg306Gln	PROT:Q96HY6	DDRGK1	R	306	Q	R306Q	Likely benign	0	1	7	16
MUT:DDRGK1:Arg46Trp	PROT:Q96HY6	DDRGK1	R	46	W	R46W	Likely benign	0	1	7	26
MUT:DDX23:Arg36Trp	PROT:Q9BUQ8	DDX23	R	36	W	R36W	Likely benign	0	1	16	11
MUT:DDX23:Arg48His	PROT:Q9BUQ8	DDX23	R	48	H	R48H	Likely benign	0	1	16	19
MUT:DDX23:Arg60Cys	PROT:Q9BUQ8	DDX23	R	60	C	R60C	Likely benign	0	1	16	7
MUT:DDX23:Arg638Cys	PROT:Q9BUQ8	DDX23	R	638	C	R638C	Likely pathogenic	1	1	16	10
MUT:DDX23:Arg64Cys	PROT:Q9BUQ8	DDX23	R	64	C	R64C	Likely benign	0	1	16	3
MUT:DDX23:Arg813Cys	PROT:Q9BUQ8	DDX23	R	813	C	R813C	Likely pathogenic	1	1	16	36
MUT:DDX23:Asn388Ser	PROT:Q9BUQ8	DDX23	N	388	S	N388S	Likely benign	0	1	16	49
MUT:DDX23:Asp33Glu	PROT:Q9BUQ8	DDX23	D	33	E	D33E	Likely benign	0	1	16	8
MUT:DDX31:His128Gln	PROT:Q9H8H2	DDX31	H	128	Q	H128Q	Likely benign	0	1	7	52
MUT:DDX59:Ala50Pro	PROT:Q5T1V6	DDX59	A	50	P	A50P	Likely benign	0	1	15	14
MUT:DDX59:Ala81Val	PROT:Q5T1V6	DDX59	A	81	V	A81V	Likely benign	0	1	15	5
MUT:DDX59:Arg418His	PROT:Q5T1V6	DDX59	R	418	H	R418H	Likely benign	0	1	15	61
MUT:DDX59:Ile533Val	PROT:Q5T1V6	DDX59	I	533	V	I533V	Likely benign	0	1	15	29
MUT:DDX59:Ile544Met	PROT:Q5T1V6	DDX59	I	544	M	I544M	Likely benign	0	1	15	18
MUT:DDX59:Leu316Ile	PROT:Q5T1V6	DDX59	L	316	I	L316I	Likely benign	0	1	15	46
MUT:DDX59:Lys302Arg	PROT:Q5T1V6	DDX59	K	302	R	K302R	Likely benign	0	1	15	32
MUT:DDX59:Ser513Asn	PROT:Q5T1V6	DDX59	S	513	N	S513N	Benign	0	2	15	34
MUT:DDX59:Ser84Thr	PROT:Q5T1V6	DDX59	S	84	T	S84T	Likely benign	0	1	15	8
MUT:DDX59:Val307Ile	PROT:Q5T1V6	DDX59	V	307	I	V307I	Benign	0	1	15	37
MUT:DDX59:Val347Ile	PROT:Q5T1V6	DDX59	V	347	I	V347I	Likely benign	0	1	15	77
MUT:DDX59:Val367Gly	PROT:Q5T1V6	DDX59	V	367	G	V367G	Pathogenic/Likely pathogenic	1	1	15	97
MUT:DDX59:Val42Ala	PROT:Q5T1V6	DDX59	V	42	A	V42A	Likely benign	0	1	15	16
MUT:DDX6:Ala351Val	PROT:P26196	DDX6	A	351	V	A351V	Likely pathogenic	1	1	13	38
MUT:DDX6:Arg373Gln	PROT:P26196	DDX6	R	373	Q	R373Q	Pathogenic	1	1	13	60
MUT:DDX6:Arg396Gln	PROT:P26196	DDX6	R	396	Q	R396Q	Pathogenic/Likely pathogenic	1	1	13	51
MUT:DDX6:Cys390Arg	PROT:P26196	DDX6	C	390	R	C390R	Pathogenic	1	1	13	57
MUT:DDX6:His372Arg	PROT:P26196	DDX6	H	372	R	H372R	Pathogenic	1	1	13	59
MUT:DDX6:Thr222Ile	PROT:P26196	DDX6	T	222	I	T222I	Likely pathogenic	1	1	13	9
MUT:DDX6:Thr28Ser	PROT:P26196	DDX6	T	28	S	T28S	Likely benign	0	1	13	12
MUT:DDX6:Thr391Ile	PROT:P26196	DDX6	T	391	I	T391I	Pathogenic	1	1	13	56
MUT:DDX6:Thr391Pro	PROT:P26196	DDX6	T	391	P	T391P	Pathogenic	1	1	13	56
MUT:DECR1:Asp287Gly	PROT:Q16698	DECR1	D	287	G	D287G	Likely benign	0	1	8	27
MUT:DECR1:Pro240Leu	PROT:Q16698	DECR1	P	240	L	P240L	Likely benign	0	1	8	10
MUT:DECR1:Ser26Asn	PROT:Q16698	DECR1	S	26	N	S26N	Likely benign	0	2	8	39
MUT:DEF6:Tyr210Asp	PROT:Q9H4E7	DEF6	Y	210	D	Y210D	Pathogenic	1	1	13	0
MUT:DENND5A:Arg1210Gln	PROT:Q6IQ26	DENND5A	R	1210	Q	R1210Q	Likely pathogenic	1	1	15	125
MUT:DENND5A:Asn277Ser	PROT:Q6IQ26	DENND5A	N	277	S	N277S	Benign	0	3	15	84
MUT:DENND5A:Glu224Gln	PROT:Q6IQ26	DENND5A	E	224	Q	E224Q	Benign	0	1	15	31
MUT:DENND5A:Glu27Asp	PROT:Q6IQ26	DENND5A	E	27	D	E27D	Benign/Likely benign	0	1	15	96
MUT:DENND5B:Arg843Ser	PROT:Q6ZUT9	DENND5B	R	843	S	R843S	Likely benign	0	1	20	8
MUT:DENND5B:His852Tyr	PROT:Q6ZUT9	DENND5B	H	852	Y	H852Y	Pathogenic/Likely pathogenic	1	1	20	17
MUT:DENR:Lys22Thr	PROT:O43583	DENR	K	22	T	K22T	Likely benign	0	1	7	0
MUT:DGKA:Ile521Val	PROT:P23743	DGKA	I	521	V	I521V	Likely benign	0	1	21	26
MUT:DGKA:Lys137Arg	PROT:P23743	DGKA	K	137	R	K137R	Likely benign	0	1	21	74
MUT:DGKA:Thr296Ala	PROT:P23743	DGKA	T	296	A	T296A	Benign	0	1	21	33
MUT:DGKD:Asn1034Ser	PROT:Q16760	DGKD	N	1034	S	N1034S	Benign	0	1	14	84
MUT:DGKD:Glu971Lys	PROT:Q16760	DGKD	E	971	K	E971K	Likely benign	0	1	14	21
MUT:DGKD:Gly1099Cys	PROT:Q16760	DGKD	G	1099	C	G1099C	Likely benign	0	1	14	86
MUT:DGUOK:Arg118His	PROT:Q16854	DGUOK	R	118	H	R118H	Pathogenic/Likely pathogenic	1	2	6	2
MUT:DGUOK:Arg142Lys	PROT:Q16854	DGUOK	R	142	K	R142K	Pathogenic/Likely pathogenic	1	2	6	7
MUT:DGUOK:Asn46Ser	PROT:Q16854	DGUOK	N	46	S	N46S	Pathogenic/Likely pathogenic	1	4	6	4
MUT:DGUOK:Asp255Tyr	PROT:Q16854	DGUOK	D	255	Y	D255Y	Pathogenic/Likely pathogenic	1	1	6	20
MUT:DGUOK:Gln170Arg	PROT:Q16854	DGUOK	Q	170	R	Q170R	Benign/Likely benign	0	2	6	35
MUT:DGUOK:Glu165Lys	PROT:Q16854	DGUOK	E	165	K	E165K	Pathogenic/Likely pathogenic	1	1	6	30
MUT:DGUOK:Glu165Val	PROT:Q16854	DGUOK	E	165	V	E165V	Pathogenic/Likely pathogenic	1	2	6	30
MUT:DGUOK:Glu227Lys	PROT:Q16854	DGUOK	E	227	K	E227K	Pathogenic	1	2	6	48
MUT:DGUOK:Glu44Lys	PROT:Q16854	DGUOK	E	44	K	E44K	Pathogenic/Likely pathogenic	1	1	6	2
MUT:DGUOK:Leu250Ser	PROT:Q16854	DGUOK	L	250	S	L250S	Pathogenic	1	1	6	25
MUT:DGUOK:Leu266Arg	PROT:Q16854	DGUOK	L	266	R	L266R	Likely pathogenic	1	1	6	9
MUT:DGUOK:Leu96Pro	PROT:Q16854	DGUOK	L	96	P	L96P	Likely pathogenic	1	1	6	24
MUT:DGUOK:Ser52Phe	PROT:Q16854	DGUOK	S	52	F	S52F	Pathogenic/Likely pathogenic	1	2	6	8
MUT:DHPS:Asn173Ser	PROT:P49366	DHPS	N	173	S	N173S	Pathogenic/Likely pathogenic	1	2	4	60
MUT:DHPS:Gln64Arg	PROT:P49366	DHPS	Q	64	R	Q64R	Likely benign	0	1	4	14
MUT:DHRS3:Arg56Cys	PROT:O75911	DHRS3	R	56	C	R56C	Likely benign	0	1	4	24
MUT:DHRS3:Pro30Arg	PROT:O75911	DHRS3	P	30	R	P30R	Benign	0	1	4	2
MUT:DHRS3:Val171Met	PROT:O75911	DHRS3	V	171	M	V171M	Pathogenic	1	2	4	15
MUT:DHRSX:Val181Phe	PROT:Q8N5I4	DHRSX	V	181	F	V181F	Pathogenic	1	1	1	120
MUT:DHTKD1:Ala210Ser	PROT:Q96HY7	DHTKD1	A	210	S	A210S	Benign/Likely benign	0	2	7	53
MUT:DHTKD1:Ala517Val	PROT:Q96HY7	DHTKD1	A	517	V	A517V	Benign/Likely benign	0	2	7	36
MUT:DHTKD1:Ala70Gly	PROT:Q96HY7	DHTKD1	A	70	G	A70G	Likely benign	0	14	7	78
MUT:DHTKD1:Arg715Cys	PROT:Q96HY7	DHTKD1	R	715	C	R715C	Likely pathogenic	1	1	7	71
MUT:DHTKD1:Asn350Asp	PROT:Q96HY7	DHTKD1	N	350	D	N350D	Benign/Likely benign	0	2	7	193
MUT:DHTKD1:Asp707Glu	PROT:Q96HY7	DHTKD1	D	707	E	D707E	Benign/Likely benign	0	1	7	79
MUT:DHTKD1:Gln611Arg	PROT:Q96HY7	DHTKD1	Q	611	R	Q611R	Benign/Likely benign	0	1	7	58
MUT:DHTKD1:His908Asn	PROT:Q96HY7	DHTKD1	H	908	N	H908N	Likely benign	0	2	7	108
MUT:DHTKD1:Ile607Met	PROT:Q96HY7	DHTKD1	I	607	M	I607M	Benign	0	2	7	54
MUT:DHTKD1:Lys148Thr	PROT:Q96HY7	DHTKD1	K	148	T	K148T	Likely benign	0	2	7	0
MUT:DHTKD1:Lys421Arg	PROT:Q96HY7	DHTKD1	K	421	R	K421R	Likely benign	0	2	7	132
MUT:DHTKD1:Met547Ile	PROT:Q96HY7	DHTKD1	M	547	I	M547I	Benign/Likely benign	0	2	7	6
MUT:DHTKD1:Phe20Leu	PROT:Q96HY7	DHTKD1	F	20	L	F20L	Benign	0	2	7	128
MUT:DHTKD1:Pro515Thr	PROT:Q96HY7	DHTKD1	P	515	T	P515T	Likely pathogenic	1	1	7	38
MUT:DHTKD1:Ser654Cys	PROT:Q96HY7	DHTKD1	S	654	C	S654C	Likely benign	0	1	7	101
MUT:DHTKD1:Tyr272Asp	PROT:Q96HY7	DHTKD1	Y	272	D	Y272D	Benign	0	2	7	115
MUT:DHTKD1:Val360Ala	PROT:Q96HY7	DHTKD1	V	360	A	V360A	Likely benign	0	2	7	193
MUT:DHX34:Ala817Thr	PROT:Q14147	DHX34	A	817	T	A817T	Benign	0	1	8	16
MUT:DHX34:Arg1000Gln	PROT:Q14147	DHX34	R	1000	Q	R1000Q	Likely benign	0	11	8	24
MUT:DHX34:Arg170Cys	PROT:Q14147	DHX34	R	170	C	R170C	Benign	0	1	8	24
MUT:DHX34:Arg17Trp	PROT:Q14147	DHX34	R	17	W	R17W	Benign	0	1	8	129
MUT:DHX34:Arg734Cys	PROT:Q14147	DHX34	R	734	C	R734C	Benign	0	1	8	16
MUT:DHX34:Arg740Gln	PROT:Q14147	DHX34	R	740	Q	R740Q	Benign	0	1	8	10
MUT:DHX34:Arg776Pro	PROT:Q14147	DHX34	R	776	P	R776P	Pathogenic	1	2	8	4
MUT:DHX34:Asn441Ser	PROT:Q14147	DHX34	N	441	S	N441S	Likely pathogenic	1	1	8	19
MUT:DHX34:Gly117Asp	PROT:Q14147	DHX34	G	117	D	G117D	Benign	0	1	8	29
MUT:DHX34:Gly807Ser	PROT:Q14147	DHX34	G	807	S	G807S	Benign	0	1	8	6
MUT:DHX34:Leu946Phe	PROT:Q14147	DHX34	L	946	F	L946F	Benign	0	1	8	30
MUT:DHX34:Pro300Arg	PROT:Q14147	DHX34	P	300	R	P300R	Benign	0	1	8	53
MUT:DHX37:Ala1108Ser	PROT:Q8IY37	DHX37	A	1108	S	A1108S	Benign	0	7	10	15
MUT:DHX37:Ala222Gly	PROT:Q8IY37	DHX37	A	222	G	A222G	Benign	0	1	10	10
MUT:DHX37:Ala48Thr	PROT:Q8IY37	DHX37	A	48	T	A48T	Benign	0	1	10	43
MUT:DHX37:Ala61Val	PROT:Q8IY37	DHX37	A	61	V	A61V	Likely benign	0	1	10	30
MUT:DHX37:Arg1031Gln	PROT:Q8IY37	DHX37	R	1031	Q	R1031Q	Likely benign	0	4	10	62
MUT:DHX37:Arg1060Cys	PROT:Q8IY37	DHX37	R	1060	C	R1060C	Likely benign	0	1	10	33
MUT:DHX37:Arg1081Gln	PROT:Q8IY37	DHX37	R	1081	Q	R1081Q	Benign	0	2	10	12
MUT:DHX37:Arg308Gln	PROT:Q8IY37	DHX37	R	308	Q	R308Q	Pathogenic	1	3	10	66
MUT:DHX37:Arg674Gln	PROT:Q8IY37	DHX37	R	674	Q	R674Q	Likely pathogenic	1	1	10	34
MUT:DHX37:Arg674Trp	PROT:Q8IY37	DHX37	R	674	W	R674W	Likely pathogenic	1	2	10	34
MUT:DHX37:Arg810Gln	PROT:Q8IY37	DHX37	R	810	Q	R810Q	Benign	0	1	10	24
MUT:DHX37:Asn419Lys	PROT:Q8IY37	DHX37	N	419	K	N419K	Likely pathogenic	1	3	10	2
MUT:DHX37:Asn900Asp	PROT:Q8IY37	DHX37	N	900	D	N900D	Likely pathogenic	1	1	10	56
MUT:DHX37:Asp180Glu	PROT:Q8IY37	DHX37	D	180	E	D180E	Benign	0	1	10	35
MUT:DHX37:Asp382Gly	PROT:Q8IY37	DHX37	D	382	G	D382G	Likely pathogenic	1	1	10	35
MUT:DHX37:Gln921Arg	PROT:Q8IY37	DHX37	Q	921	R	Q921R	Likely pathogenic	1	1	10	35
MUT:DHX37:Glu267Lys	PROT:Q8IY37	DHX37	E	267	K	E267K	Benign	0	1	10	25
MUT:DHX37:Gly1089Ser	PROT:Q8IY37	DHX37	G	1089	S	G1089S	Likely benign	0	1	10	4
MUT:DHX37:Lys508Asn	PROT:Q8IY37	DHX37	K	508	N	K508N	Benign	0	1	10	83
MUT:DHX37:Lys832Arg	PROT:Q8IY37	DHX37	K	832	R	K832R	Likely benign	0	1	10	46
MUT:DHX37:Met96Ile	PROT:Q8IY37	DHX37	M	96	I	M96I	Benign	0	3	10	5
MUT:DHX37:Pro187Leu	PROT:Q8IY37	DHX37	P	187	L	P187L	Likely benign	0	1	10	42
MUT:DHX37:Ser207Cys	PROT:Q8IY37	DHX37	S	207	C	S207C	Likely benign	0	1	10	25
MUT:DHX37:Ser242Thr	PROT:Q8IY37	DHX37	S	242	T	S242T	Likely benign	0	1	10	0
MUT:DHX37:Ser595Phe	PROT:Q8IY37	DHX37	S	595	F	S595F	Pathogenic	1	1	10	45
MUT:DHX37:Ser626Leu	PROT:Q8IY37	DHX37	S	626	L	S626L	Likely pathogenic	1	1	10	14
MUT:DHX37:Ser869Gly	PROT:Q8IY37	DHX37	S	869	G	S869G	Benign	0	2	10	83
MUT:DHX37:Thr1094Met	PROT:Q8IY37	DHX37	T	1094	M	T1094M	Likely pathogenic	1	1	10	1
MUT:DHX37:Thr304Met	PROT:Q8IY37	DHX37	T	304	M	T304M	Pathogenic	1	1	10	62
MUT:DHX37:Val717Ile	PROT:Q8IY37	DHX37	V	717	I	V717I	Benign	0	1	10	69
MUT:DHX37:Val731Met	PROT:Q8IY37	DHX37	V	731	M	V731M	Pathogenic/Likely pathogenic	1	2	10	55
MUT:DHX9:Arg1166Pro	PROT:Q08211	DHX9	R	1166	P	R1166P	Pathogenic	1	1	55	3
MUT:DHX9:Arg141Gln	PROT:Q08211	DHX9	R	141	Q	R141Q	Likely pathogenic	1	1	55	5
MUT:DHX9:Arg764Gln	PROT:Q08211	DHX9	R	764	Q	R764Q	Likely pathogenic	1	1	55	9
MUT:DHX9:Gly414Arg	PROT:Q08211	DHX9	G	414	R	G414R	Pathogenic/Likely pathogenic	1	2	55	3
MUT:DHX9:Ser1181Gly	PROT:Q08211	DHX9	S	1181	G	S1181G	Likely benign	0	1	55	10
MUT:DIAPH1:Ala67Val	PROT:O60610	DIAPH1	A	67	V	A67V	Benign/Likely benign	0	2	56	4
MUT:DIAPH1:Ala813Thr	PROT:O60610	DIAPH1	A	813	T	A813T	Benign/Likely benign	0	1	56	11
MUT:DIAPH1:Asp508Gly	PROT:O60610	DIAPH1	D	508	G	D508G	Benign/Likely benign	0	2	56	1
MUT:DIAPH1:Gln842Pro	PROT:O60610	DIAPH1	Q	842	P	Q842P	Benign	0	1	56	13
MUT:DIAPH1:Glu460Asp	PROT:O60610	DIAPH1	E	460	D	E460D	Likely benign	0	1	56	7
MUT:DIAPH1:Gly662Asp	PROT:O60610	DIAPH1	G	662	D	G662D	Benign/Likely benign	0	1	56	106
MUT:DIAPH1:Gly671Arg	PROT:O60610	DIAPH1	G	671	R	G671R	Likely benign	0	1	56	97
MUT:DIAPH1:Leu982Arg	PROT:O60610	DIAPH1	L	982	R	L982R	Likely pathogenic	1	1	56	21
MUT:DIAPH1:Phe1076Cys	PROT:O60610	DIAPH1	F	1076	C	F1076C	Benign/Likely benign	0	1	56	15
MUT:DIAPH1:Pro587Leu	PROT:O60610	DIAPH1	P	587	L	P587L	Likely benign	0	1	56	37
MUT:DIAPH1:Pro655Arg	PROT:O60610	DIAPH1	P	655	R	P655R	Benign/Likely benign	0	2	56	105
MUT:DIAPH1:Pro678Ser	PROT:O60610	DIAPH1	P	678	S	P678S	Benign/Likely benign	0	2	56	90
MUT:DIAPH1:Ser1051Phe	PROT:O60610	DIAPH1	S	1051	F	S1051F	Likely benign	0	2	56	0
MUT:DIAPH1:Ser264Tyr	PROT:O60610	DIAPH1	S	264	Y	S264Y	Likely pathogenic	1	1	56	42
MUT:DIDO1:Thr1339Ser	PROT:Q9BTC0	DIDO1	T	1339	S	T1339S	Benign	0	2	25	27
MUT:DIP2A:His1482Gln	PROT:Q14689	DIP2A	H	1482	Q	H1482Q	Likely benign	0	1	13	186
MUT:DIP2A:Ile428Thr	PROT:Q14689	DIP2A	I	428	T	I428T	Likely benign	0	1	13	80
MUT:DIP2A:Lys284Gln	PROT:Q14689	DIP2A	K	284	Q	K284Q	Likely benign	0	1	13	3
MUT:DIP2A:Ser372Asn	PROT:Q14689	DIP2A	S	372	N	S372N	Benign	0	1	13	24
MUT:DIP2B:Arg484Trp	PROT:Q9P265	DIP2B	R	484	W	R484W	Benign	0	1	42	4
MUT:DIP2B:Gln949Pro	PROT:Q9P265	DIP2B	Q	949	P	Q949P	Likely benign	0	1	42	317
MUT:DIP2B:Glu1452Lys	PROT:Q9P265	DIP2B	E	1452	K	E1452K	Likely pathogenic	1	1	42	144
MUT:DIP2B:Phe1298Cys	PROT:Q9P265	DIP2B	F	1298	C	F1298C	Likely benign	0	1	42	5
MUT:DIP2B:Pro1150Ser	PROT:Q9P265	DIP2B	P	1150	S	P1150S	Likely benign	0	1	42	153
MUT:DIP2B:Ser354Pro	PROT:Q9P265	DIP2B	S	354	P	S354P	Likely benign	0	1	42	32
MUT:DIP2B:Ser492Tyr	PROT:Q9P265	DIP2B	S	492	Y	S492Y	Likely benign	0	1	42	12
MUT:DIP2B:Ser544Leu	PROT:Q9P265	DIP2B	S	544	L	S544L	Likely benign	0	1	42	19
MUT:DIP2C:Ala233Val	PROT:Q9Y2E4	DIP2C	A	233	V	A233V	Likely benign	0	1	17	20
MUT:DIP2C:Ser1378Cys	PROT:Q9Y2E4	DIP2C	S	1378	C	S1378C	Likely benign	0	1	17	127
MUT:DIP2C:Ser640Arg	PROT:Q9Y2E4	DIP2C	S	640	R	S640R	Likely benign	0	1	17	27
MUT:DIPK2B:Arg128Lys	PROT:Q9H7Y0	DIPK2B	R	128	K	R128K	Benign	0	1	1	25
MUT:DIPK2B:Arg143Leu	PROT:Q9H7Y0	DIPK2B	R	143	L	R143L	Benign	0	1	1	10
MUT:DIPK2B:Asp391His	PROT:Q9H7Y0	DIPK2B	D	391	H	D391H	Likely benign	0	1	1	238
MUT:DIPK2B:Ser105Pro	PROT:Q9H7Y0	DIPK2B	S	105	P	S105P	Benign	0	1	1	48
MUT:DISP1:Arg1132Gln	PROT:Q96F81	DISP1	R	1132	Q	R1132Q	Likely benign	0	1	9	29
MUT:DISP1:Leu1239Pro	PROT:Q96F81	DISP1	L	1239	P	L1239P	Benign	0	1	9	55
MUT:DISP1:Met1096Thr	PROT:Q96F81	DISP1	M	1096	T	M1096T	Benign/Likely benign	0	1	9	65
MUT:DISP1:Val947Met	PROT:Q96F81	DISP1	V	947	M	V947M	Likely pathogenic	1	1	9	214
MUT:DLG4:Ala249Ser	PROT:P78352	DLG4	A	249	S	A249S	Likely benign	0	1	10	89
MUT:DLG4:Arg474Gln	PROT:P78352	DLG4	R	474	Q	R474Q	Likely benign	0	1	10	6
MUT:DLG4:Arg586Gln	PROT:P78352	DLG4	R	586	Q	R586Q	Pathogenic	1	1	10	18
MUT:DLG4:Asp186Val	PROT:P78352	DLG4	D	186	V	D186V	Pathogenic/Likely pathogenic	1	1	10	118
MUT:DLG4:Gly177Val	PROT:P78352	DLG4	G	177	V	G177V	Pathogenic/Likely pathogenic	1	1	10	109
MUT:DLG4:Pro536Leu	PROT:P78352	DLG4	P	536	L	P536L	Likely pathogenic	1	1	10	30
MUT:DLG4:Pro564Ser	PROT:P78352	DLG4	P	564	S	P564S	Likely pathogenic	1	1	10	2
MUT:DLG4:Ser32Gly	PROT:P78352	DLG4	S	32	G	S32G	Benign	0	1	10	30
MUT:DLG4:Ser584Leu	PROT:P78352	DLG4	S	584	L	S584L	Likely benign	0	1	10	18
MUT:DLG4:Thr57Ile	PROT:P78352	DLG4	T	57	I	T57I	Likely benign	0	1	10	5
MUT:DLG4:Thr611Ile	PROT:P78352	DLG4	T	611	I	T611I	Pathogenic/Likely pathogenic	1	1	10	7
MUT:DLG4:Val297Ala	PROT:P78352	DLG4	V	297	A	V297A	Likely benign	0	1	10	41
MUT:DLG4:Val718Ile	PROT:P78352	DLG4	V	718	I	V718I	Benign/Likely benign	0	1	10	3
MUT:DLGAP2:Ala3Ser	PROT:Q9P1A6	DLGAP2	A	3	S	A3S	Benign	0	1	3	354
MUT:DLGAP2:Arg214Lys	PROT:Q9P1A6	DLGAP2	R	214	K	R214K	Benign	0	1	3	143
MUT:DLGAP2:Arg646His	PROT:Q9P1A6	DLGAP2	R	646	H	R646H	Likely benign	0	1	3	25
MUT:DLGAP2:Arg713His	PROT:Q9P1A6	DLGAP2	R	713	H	R713H	Likely benign	0	1	3	40
MUT:DLGAP2:Asp391Glu	PROT:Q9P1A6	DLGAP2	D	391	E	D391E	Benign	0	1	3	34
MUT:DLGAP4:Gly165Ser	PROT:Q9Y2H0	DLGAP4	G	165	S	G165S	Benign	0	2	9	41
MUT:DLK1:Ala213Thr	PROT:P80370	DLK1	A	213	T	A213T	Likely benign	0	1	2	140
MUT:DLK1:Gly69Glu	PROT:P80370	DLK1	G	69	E	G69E	Likely benign	0	1	2	284
MUT:DLK1:His65Arg	PROT:P80370	DLK1	H	65	R	H65R	Benign	0	1	2	288
MUT:DLK1:Ser260Asn	PROT:P80370	DLK1	S	260	N	S260N	Benign	0	1	2	93
MUT:DLK1:Val104Met	PROT:P80370	DLK1	V	104	M	V104M	Benign	0	1	2	249
MUT:DLK1:Val184Ile	PROT:P80370	DLK1	V	184	I	V184I	Likely benign	0	1	2	169
MUT:DLK1:Val58Met	PROT:P80370	DLK1	V	58	M	V58M	Likely benign	0	1	2	295
MUT:DLL1:Ala448Thr	PROT:O00548	DLL1	A	448	T	A448T	Likely benign	0	2	3	246
MUT:DLL1:Cys204Tyr	PROT:O00548	DLL1	C	204	Y	C204Y	Likely pathogenic	1	1	3	490
MUT:DLL1:Gln269His	PROT:O00548	DLL1	Q	269	H	Q269H	Likely benign	0	1	3	425
MUT:DLL1:Glu26Lys	PROT:O00548	DLL1	E	26	K	E26K	Likely pathogenic	1	1	3	668
MUT:DLL1:Glu331Lys	PROT:O00548	DLL1	E	331	K	E331K	Likely benign	0	2	3	363
MUT:DLL1:Glu506Lys	PROT:O00548	DLL1	E	506	K	E506K	Benign/Likely benign	0	1	3	188
MUT:DLL1:Glu522Lys	PROT:O00548	DLL1	E	522	K	E522K	Benign/Likely benign	0	1	3	172
MUT:DLL1:Gly205Arg	PROT:O00548	DLL1	G	205	R	G205R	Benign	0	1	3	489
MUT:DLL1:Ile329Val	PROT:O00548	DLL1	I	329	V	I329V	Likely benign	0	1	3	365
MUT:DLL1:Met1Val	PROT:O00548	DLL1	M	1	V	M1V	Likely pathogenic	1	1	3	693
MUT:DLL1:Pro451Leu	PROT:O00548	DLL1	P	451	L	P451L	Benign	0	1	3	243
MUT:DLL1:Thr610Met	PROT:O00548	DLL1	T	610	M	T610M	Likely benign	0	1	3	84
MUT:DLL1:Thr652Ala	PROT:O00548	DLL1	T	652	A	T652A	Likely benign	0	1	3	42
MUT:DLL1:Tyr79Asp	PROT:O00548	DLL1	Y	79	D	Y79D	Likely pathogenic	1	1	3	615
MUT:DLL1:Val709Ile	PROT:O00548	DLL1	V	709	I	V709I	Likely benign	0	2	3	3
MUT:DLL3:Ala462Thr	PROT:Q9NYJ7	DLL3	A	462	T	A462T	Benign/Likely benign	0	2	2	59
MUT:DLL3:Arg436His	PROT:Q9NYJ7	DLL3	R	436	H	R436H	Benign/Likely benign	0	1	2	85
MUT:DLL3:Arg463Leu	PROT:Q9NYJ7	DLL3	R	463	L	R463L	Benign/Likely benign	0	3	2	58
MUT:DLL3:Arg565His	PROT:Q9NYJ7	DLL3	R	565	H	R565H	Likely benign	0	1	2	39
MUT:DLL3:Cys379Tyr	PROT:Q9NYJ7	DLL3	C	379	Y	C379Y	Pathogenic/Likely pathogenic	1	1	2	142
MUT:DLL3:Cys438Ser	PROT:Q9NYJ7	DLL3	C	438	S	C438S	Likely pathogenic	1	1	2	83
MUT:DLL3:Gly504Asp	PROT:Q9NYJ7	DLL3	G	504	D	G504D	Pathogenic/Likely pathogenic	1	1	2	17
MUT:DLL3:Gly8Arg	PROT:Q9NYJ7	DLL3	G	8	R	G8R	Likely benign	0	1	2	513
MUT:DLL3:Leu142Gln	PROT:Q9NYJ7	DLL3	L	142	Q	L142Q	Benign/Likely benign	0	2	2	379
MUT:DLL3:Leu218Pro	PROT:Q9NYJ7	DLL3	L	218	P	L218P	Benign	0	2	2	303
MUT:DLL3:Leu54Ile	PROT:Q9NYJ7	DLL3	L	54	I	L54I	Benign/Likely benign	0	2	2	467
MUT:DLL3:Ser225Asn	PROT:Q9NYJ7	DLL3	S	225	N	S225N	Benign	0	2	2	296
MUT:DLL3:Ser521Phe	PROT:Q9NYJ7	DLL3	S	521	F	S521F	Benign/Likely benign	0	2	2	0
MUT:DLL3:Val452Ile	PROT:Q9NYJ7	DLL3	V	452	I	V452I	Likely benign	0	1	2	69
MUT:DLX3:Ala90Ser	PROT:O60479	DLX3	A	90	S	A90S	Benign	0	1	6	22
MUT:DLX3:Asn179His	PROT:O60479	DLX3	N	179	H	N179H	Likely pathogenic	1	1	6	3
MUT:DLX3:Asn179Lys	PROT:O60479	DLX3	N	179	K	N179K	Likely pathogenic	1	2	6	3
MUT:DLX3:Asp246His	PROT:O60479	DLX3	D	246	H	D246H	Benign	0	2	6	64
MUT:DLX3:Gln178His	PROT:O60479	DLX3	Q	178	H	Q178H	Pathogenic/Likely pathogenic	1	1	6	4
MUT:DLX3:Gly278Arg	PROT:O60479	DLX3	G	278	R	G278R	Likely benign	0	2	6	96
MUT:DLX4:Arg135Pro	PROT:Q92988	DLX4	R	135	P	R135P	Likely benign	0	1	1	63
MUT:DLX4:Pro25Arg	PROT:Q92988	DLX4	P	25	R	P25R	Likely benign	0	1	1	173
MUT:DLX5:Ala171Val	PROT:P56178	DLX5	A	171	V	A171V	Likely pathogenic	1	1	2	13
MUT:DLX5:Gln178Pro	PROT:P56178	DLX5	Q	178	P	Q178P	Pathogenic	1	1	2	20
MUT:DLX5:Gln186His	PROT:P56178	DLX5	Q	186	H	Q186H	Pathogenic	1	1	2	28
MUT:DLX5:Leu170Pro	PROT:P56178	DLX5	L	170	P	L170P	Likely pathogenic	1	1	2	12
MUT:DMD:Ala1119Gly	PROT:P11532	DMD	A	1119	G	A1119G	Likely benign	0	1	58	17
MUT:DMD:Ala1212Val	PROT:P11532	DMD	A	1212	V	A1212V	Benign/Likely benign	0	2	58	76
MUT:DMD:Ala1266Thr	PROT:P11532	DMD	A	1266	T	A1266T	Likely benign	0	1	58	130
MUT:DMD:Ala1372Val	PROT:P11532	DMD	A	1372	V	A1372V	Benign	0	2	58	70
MUT:DMD:Ala1437Val	PROT:P11532	DMD	A	1437	V	A1437V	Likely benign	0	1	58	5
MUT:DMD:Ala1588Ser	PROT:P11532	DMD	A	1588	S	A1588S	Likely benign	0	1	58	2
MUT:DMD:Ala1616Gly	PROT:P11532	DMD	A	1616	G	A1616G	Likely benign	0	1	58	26
MUT:DMD:Ala1872Asp	PROT:P11532	DMD	A	1872	D	A1872D	Likely benign	0	1	58	165
MUT:DMD:Ala2020Pro	PROT:P11532	DMD	A	2020	P	A2020P	Likely benign	0	1	58	17
MUT:DMD:Ala2230Gly	PROT:P11532	DMD	A	2230	G	A2230G	Likely benign	0	1	58	193
MUT:DMD:Ala2412Val	PROT:P11532	DMD	A	2412	V	A2412V	Likely benign	0	2	58	240
MUT:DMD:Ala2747Gly	PROT:P11532	DMD	A	2747	G	A2747G	Likely benign	0	1	58	19
MUT:DMD:Ala2942Ser	PROT:P11532	DMD	A	2942	S	A2942S	Benign	0	1	58	29
MUT:DMD:Ala2986Val	PROT:P11532	DMD	A	2986	V	A2986V	Likely benign	0	1	58	73
MUT:DMD:Ala324Asp	PROT:P11532	DMD	A	324	D	A324D	Likely benign	0	1	58	266
MUT:DMD:Ala324Ser	PROT:P11532	DMD	A	324	S	A324S	Likely benign	0	1	58	266
MUT:DMD:Ala3387Val	PROT:P11532	DMD	A	3387	V	A3387V	Benign/Likely benign	0	1	58	7
MUT:DMD:Ala437Gly	PROT:P11532	DMD	A	437	G	A437G	Pathogenic/Likely pathogenic	1	1	58	235
MUT:DMD:Ala573Val	PROT:P11532	DMD	A	573	V	A573V	Benign/Likely benign	0	1	58	99
MUT:DMD:Ala581Val	PROT:P11532	DMD	A	581	V	A581V	Benign/Likely benign	0	1	58	91
MUT:DMD:Ala668Val	PROT:P11532	DMD	A	668	V	A668V	Likely benign	0	1	58	4
MUT:DMD:Ala834Thr	PROT:P11532	DMD	A	834	T	A834T	Likely benign	0	1	58	47
MUT:DMD:Arg1028His	PROT:P11532	DMD	R	1028	H	R1028H	Likely benign	0	1	58	16
MUT:DMD:Arg1051Gln	PROT:P11532	DMD	R	1051	Q	R1051Q	Likely benign	0	1	58	39
MUT:DMD:Arg1314Gln	PROT:P11532	DMD	R	1314	Q	R1314Q	Benign	0	1	58	128
MUT:DMD:Arg1324Cys	PROT:P11532	DMD	R	1324	C	R1324C	Benign/Likely benign	0	2	58	118
MUT:DMD:Arg1350Leu	PROT:P11532	DMD	R	1350	L	R1350L	Likely benign	0	1	58	92
MUT:DMD:Arg1361Met	PROT:P11532	DMD	R	1361	M	R1361M	Benign/Likely benign	0	1	58	81
MUT:DMD:Arg13Lys	PROT:P11532	DMD	R	13	K	R13K	Benign	0	1	58	6
MUT:DMD:Arg145Pro	PROT:P11532	DMD	R	145	P	R145P	Pathogenic/Likely pathogenic	1	2	58	87
MUT:DMD:Arg1562Gly	PROT:P11532	DMD	R	1562	G	R1562G	Benign/Likely benign	0	1	58	28
MUT:DMD:Arg1577Gln	PROT:P11532	DMD	R	1577	Q	R1577Q	Likely benign	0	1	58	13
MUT:DMD:Arg1728His	PROT:P11532	DMD	R	1728	H	R1728H	Likely benign	0	1	58	81
MUT:DMD:Arg1745His	PROT:P11532	DMD	R	1745	H	R1745H	Benign	0	2	58	98
MUT:DMD:Arg1837Thr	PROT:P11532	DMD	R	1837	T	R1837T	Benign	0	1	58	190
MUT:DMD:Arg1957Gln	PROT:P11532	DMD	R	1957	Q	R1957Q	Likely benign	0	1	58	80
MUT:DMD:Arg1967Gln	PROT:P11532	DMD	R	1967	Q	R1967Q	Likely benign	0	1	58	70
MUT:DMD:Arg2098Gln	PROT:P11532	DMD	R	2098	Q	R2098Q	Likely benign	0	1	58	61
MUT:DMD:Arg2108Cys	PROT:P11532	DMD	R	2108	C	R2108C	Benign/Likely benign	0	2	58	71
MUT:DMD:Arg2155Trp	PROT:P11532	DMD	R	2155	W	R2155W	Benign/Likely benign	0	2	58	118
MUT:DMD:Arg2191Trp	PROT:P11532	DMD	R	2191	W	R2191W	Benign/Likely benign	0	3	58	154
MUT:DMD:Arg2205Met	PROT:P11532	DMD	R	2205	M	R2205M	Likely pathogenic	1	1	58	168
MUT:DMD:Arg2263His	PROT:P11532	DMD	R	2263	H	R2263H	Likely benign	0	1	58	226
MUT:DMD:Arg2415His	PROT:P11532	DMD	R	2415	H	R2415H	Benign/Likely benign	0	2	58	237
MUT:DMD:Arg2477Gln	PROT:P11532	DMD	R	2477	Q	R2477Q	Likely benign	0	1	58	175
MUT:DMD:Arg2524His	PROT:P11532	DMD	R	2524	H	R2524H	Benign/Likely benign	0	3	58	128
MUT:DMD:Arg2720Cys	PROT:P11532	DMD	R	2720	C	R2720C	Likely benign	0	1	58	8
MUT:DMD:Arg2720His	PROT:P11532	DMD	R	2720	H	R2720H	Likely benign	0	1	58	8
MUT:DMD:Arg2790Trp	PROT:P11532	DMD	R	2790	W	R2790W	Likely benign	0	1	58	62
MUT:DMD:Arg2797Lys	PROT:P11532	DMD	R	2797	K	R2797K	Likely pathogenic	1	1	58	69
MUT:DMD:Arg2937Gln	PROT:P11532	DMD	R	2937	Q	R2937Q	Benign	0	2	58	24
MUT:DMD:Arg2982Gln	PROT:P11532	DMD	R	2982	Q	R2982Q	Benign	0	1	58	69
MUT:DMD:Arg3370Pro	PROT:P11532	DMD	R	3370	P	R3370P	Likely pathogenic	1	1	58	4
MUT:DMD:Arg3391Gln	PROT:P11532	DMD	R	3391	Q	R3391Q	Likely benign	0	1	58	3
MUT:DMD:Arg343His	PROT:P11532	DMD	R	343	H	R343H	Benign/Likely benign	0	1	58	285
MUT:DMD:Arg3526His	PROT:P11532	DMD	R	3526	H	R3526H	Benign	0	1	58	11
MUT:DMD:Arg3566Cys	PROT:P11532	DMD	R	3566	C	R3566C	Likely benign	0	1	58	3
MUT:DMD:Arg395Gln	PROT:P11532	DMD	R	395	Q	R395Q	Benign/Likely benign	0	3	58	277
MUT:DMD:Arg488Cys	PROT:P11532	DMD	R	488	C	R488C	Benign/Likely benign	0	1	58	184
MUT:DMD:Arg48Lys	PROT:P11532	DMD	R	48	K	R48K	Likely benign	0	1	58	10
MUT:DMD:Arg649Gln	PROT:P11532	DMD	R	649	Q	R649Q	Likely benign	0	1	58	23
MUT:DMD:Arg649Trp	PROT:P11532	DMD	R	649	W	R649W	Likely benign	0	1	58	23
MUT:DMD:Asn1581Lys	PROT:P11532	DMD	N	1581	K	N1581K	Likely benign	0	1	58	9
MUT:DMD:Asn1672Lys	PROT:P11532	DMD	N	1672	K	N1672K	Benign/Likely benign	0	2	58	25
MUT:DMD:Asn1813Ser	PROT:P11532	DMD	N	1813	S	N1813S	Likely benign	0	1	58	166
MUT:DMD:Asn1820Ser	PROT:P11532	DMD	N	1820	S	N1820S	Likely benign	0	1	58	173
MUT:DMD:Asn2507Ser	PROT:P11532	DMD	N	2507	S	N2507S	Likely benign	0	1	58	145
MUT:DMD:Asn2543Lys	PROT:P11532	DMD	N	2543	K	N2543K	Likely benign	0	1	58	109
MUT:DMD:Asn2783Ser	PROT:P11532	DMD	N	2783	S	N2783S	Likely benign	0	1	58	55
MUT:DMD:Asn2845Ser	PROT:P11532	DMD	N	2845	S	N2845S	Likely benign	0	1	58	68
MUT:DMD:Asn2912Asp	PROT:P11532	DMD	N	2912	D	N2912D	Benign/Likely benign	0	2	58	1
MUT:DMD:Asn2912Ser	PROT:P11532	DMD	N	2912	S	N2912S	Likely benign	0	1	58	1
MUT:DMD:Asn2991Lys	PROT:P11532	DMD	N	2991	K	N2991K	Likely benign	0	1	58	75
MUT:DMD:Asn3137Ser	PROT:P11532	DMD	N	3137	S	N3137S	Benign	0	1	58	56
MUT:DMD:Asn633Asp	PROT:P11532	DMD	N	633	D	N633D	Likely benign	0	1	58	39
MUT:DMD:Asn797Lys	PROT:P11532	DMD	N	797	K	N797K	Benign/Likely benign	0	3	58	84
MUT:DMD:Asp1068Asn	PROT:P11532	DMD	D	1068	N	D1068N	Benign	0	1	58	56
MUT:DMD:Asp1184Glu	PROT:P11532	DMD	D	1184	E	D1184E	Likely benign	0	1	58	48
MUT:DMD:Asp1191Gly	PROT:P11532	DMD	D	1191	G	D1191G	Likely benign	0	1	58	55
MUT:DMD:Asp1402Glu	PROT:P11532	DMD	D	1402	E	D1402E	Likely benign	0	1	58	40
MUT:DMD:Asp1726Gly	PROT:P11532	DMD	D	1726	G	D1726G	Likely benign	0	1	58	79
MUT:DMD:Asp1815Gly	PROT:P11532	DMD	D	1815	G	D1815G	Likely pathogenic	1	2	58	168
MUT:DMD:Asp2201Gly	PROT:P11532	DMD	D	2201	G	D2201G	Benign	0	1	58	164
MUT:DMD:Asp2378Asn	PROT:P11532	DMD	D	2378	N	D2378N	Likely benign	0	1	58	274
MUT:DMD:Asp2581Asn	PROT:P11532	DMD	D	2581	N	D2581N	Likely benign	0	1	58	71
MUT:DMD:Asp2629Val	PROT:P11532	DMD	D	2629	V	D2629V	Likely benign	0	1	58	23
MUT:DMD:Asp2654Gly	PROT:P11532	DMD	D	2654	G	D2654G	Likely benign	0	1	58	2
MUT:DMD:Asp2727Ala	PROT:P11532	DMD	D	2727	A	D2727A	Likely benign	0	1	58	1
MUT:DMD:Asp2770Asn	PROT:P11532	DMD	D	2770	N	D2770N	Benign/Likely benign	0	2	58	42
MUT:DMD:Asp2825Asn	PROT:P11532	DMD	D	2825	N	D2825N	Likely benign	0	1	58	88
MUT:DMD:Asp3134Tyr	PROT:P11532	DMD	D	3134	Y	D3134Y	Likely benign	0	1	58	53
MUT:DMD:Asp3176Gly	PROT:P11532	DMD	D	3176	G	D3176G	Likely pathogenic	1	1	58	95
MUT:DMD:Asp3187Gly	PROT:P11532	DMD	D	3187	G	D3187G	Pathogenic/Likely pathogenic	1	2	58	104
MUT:DMD:Asp3512Glu	PROT:P11532	DMD	D	3512	E	D3512E	Likely benign	0	1	58	12
MUT:DMD:Asp377Glu	PROT:P11532	DMD	D	377	E	D377E	Benign	0	1	58	295
MUT:DMD:Asp415Asn	PROT:P11532	DMD	D	415	N	D415N	Likely benign	0	1	58	257
MUT:DMD:Asp451Tyr	PROT:P11532	DMD	D	451	Y	D451Y	Pathogenic/Likely pathogenic	1	2	58	221
MUT:DMD:Asp518Glu	PROT:P11532	DMD	D	518	E	D518E	Benign/Likely benign	0	2	58	154
MUT:DMD:Asp523Val	PROT:P11532	DMD	D	523	V	D523V	Likely benign	0	1	58	149
MUT:DMD:Asp538Asn	PROT:P11532	DMD	D	538	N	D538N	Likely benign	0	1	58	134
MUT:DMD:Asp549Glu	PROT:P11532	DMD	D	549	E	D549E	Likely benign	0	1	58	123
MUT:DMD:Asp556Asn	PROT:P11532	DMD	D	556	N	D556N	Benign/Likely benign	0	2	58	116
MUT:DMD:Asp592Glu	PROT:P11532	DMD	D	592	E	D592E	Likely benign	0	1	58	80
MUT:DMD:Asp725Tyr	PROT:P11532	DMD	D	725	Y	D725Y	Benign	0	3	58	46
MUT:DMD:Asp882Gly	PROT:P11532	DMD	D	882	G	D882G	Benign	0	2	58	1
MUT:DMD:Asp908Glu	PROT:P11532	DMD	D	908	E	D908E	Likely benign	0	1	58	27
MUT:DMD:Asp908Val	PROT:P11532	DMD	D	908	V	D908V	Likely benign	0	1	58	27
MUT:DMD:Cys2196Phe	PROT:P11532	DMD	C	2196	F	C2196F	Likely benign	0	1	58	159
MUT:DMD:Cys3130Gly	PROT:P11532	DMD	C	3130	G	C3130G	Likely benign	0	1	58	49
MUT:DMD:Cys3153Phe	PROT:P11532	DMD	C	3153	F	C3153F	Likely benign	0	1	58	72
MUT:DMD:Cys3313Phe	PROT:P11532	DMD	C	3313	F	C3313F	Likely pathogenic	1	1	58	1
MUT:DMD:Cys3340Tyr	PROT:P11532	DMD	C	3340	Y	C3340Y	Pathogenic	1	1	58	11
MUT:DMD:Gln1058Arg	PROT:P11532	DMD	Q	1058	R	Q1058R	Likely benign	0	1	58	46
MUT:DMD:Gln1163His	PROT:P11532	DMD	Q	1163	H	Q1163H	Likely benign	0	1	58	27
MUT:DMD:Gln1697His	PROT:P11532	DMD	Q	1697	H	Q1697H	Likely benign	0	1	58	50
MUT:DMD:Gln1855His	PROT:P11532	DMD	Q	1855	H	Q1855H	Likely benign	0	1	58	182
MUT:DMD:Gln2047Arg	PROT:P11532	DMD	Q	2047	R	Q2047R	Benign/Likely benign	0	2	58	10
MUT:DMD:Gln2125His	PROT:P11532	DMD	Q	2125	H	Q2125H	Likely benign	0	2	58	88
MUT:DMD:Gln2182Arg	PROT:P11532	DMD	Q	2182	R	Q2182R	Likely benign	0	2	58	145
MUT:DMD:Gln2244His	PROT:P11532	DMD	Q	2244	H	Q2244H	Benign/Likely benign	0	2	58	207
MUT:DMD:Gln2297His	PROT:P11532	DMD	Q	2297	H	Q2297H	Likely benign	0	1	58	260
MUT:DMD:Gln242Glu	PROT:P11532	DMD	Q	242	E	Q242E	Likely benign	0	1	58	184
MUT:DMD:Gln2491Arg	PROT:P11532	DMD	Q	2491	R	Q2491R	Benign/Likely benign	0	1	58	161
MUT:DMD:Gln2594Arg	PROT:P11532	DMD	Q	2594	R	Q2594R	Likely benign	0	1	58	58
MUT:DMD:Gln277His	PROT:P11532	DMD	Q	277	H	Q277H	Likely pathogenic	1	2	58	219
MUT:DMD:Gln2842His	PROT:P11532	DMD	Q	2842	H	Q2842H	Likely benign	0	1	58	71
MUT:DMD:Gln421Glu	PROT:P11532	DMD	Q	421	E	Q421E	Likely benign	0	1	58	251
MUT:DMD:Gln455Glu	PROT:P11532	DMD	Q	455	E	Q455E	Likely benign	0	1	58	217
MUT:DMD:Gln491Arg	PROT:P11532	DMD	Q	491	R	Q491R	Likely benign	0	1	58	181
MUT:DMD:Gln700Glu	PROT:P11532	DMD	Q	700	E	Q700E	Likely benign	0	1	58	21
MUT:DMD:Gln790Glu	PROT:P11532	DMD	Q	790	E	Q790E	Likely benign	0	1	58	91
MUT:DMD:Gln844Lys	PROT:P11532	DMD	Q	844	K	Q844K	Likely benign	0	1	58	37
MUT:DMD:Gln869His	PROT:P11532	DMD	Q	869	H	Q869H	Benign/Likely benign	0	1	58	12
MUT:DMD:Gln957Pro	PROT:P11532	DMD	Q	957	P	Q957P	Likely pathogenic	1	1	58	55
MUT:DMD:Glu1026Gly	PROT:P11532	DMD	E	1026	G	E1026G	Benign	0	1	58	14
MUT:DMD:Glu1066Asp	PROT:P11532	DMD	E	1066	D	E1066D	Likely benign	0	1	58	54
MUT:DMD:Glu1219Ala	PROT:P11532	DMD	E	1219	A	E1219A	Likely benign	0	1	58	83
MUT:DMD:Glu1286Val	PROT:P11532	DMD	E	1286	V	E1286V	Likely benign	0	1	58	150
MUT:DMD:Glu1473Ala	PROT:P11532	DMD	E	1473	A	E1473A	Likely benign	0	1	58	31
MUT:DMD:Glu1567Ala	PROT:P11532	DMD	E	1567	A	E1567A	Likely benign	0	1	58	23
MUT:DMD:Glu1798Val	PROT:P11532	DMD	E	1798	V	E1798V	Benign	0	1	58	151
MUT:DMD:Glu1826Ala	PROT:P11532	DMD	E	1826	A	E1826A	Likely benign	0	1	58	179
MUT:DMD:Glu1874Lys	PROT:P11532	DMD	E	1874	K	E1874K	Benign/Likely benign	0	2	58	163
MUT:DMD:Glu2168Gln	PROT:P11532	DMD	E	2168	Q	E2168Q	Likely benign	0	1	58	131
MUT:DMD:Glu2222Ala	PROT:P11532	DMD	E	2222	A	E2222A	Likely benign	0	1	58	185
MUT:DMD:Glu2292Gly	PROT:P11532	DMD	E	2292	G	E2292G	Likely benign	0	1	58	255
MUT:DMD:Glu2315Lys	PROT:P11532	DMD	E	2315	K	E2315K	Likely benign	0	1	58	278
MUT:DMD:Glu2335Lys	PROT:P11532	DMD	E	2335	K	E2335K	Likely benign	0	1	58	298
MUT:DMD:Glu2481Gly	PROT:P11532	DMD	E	2481	G	E2481G	Likely benign	0	1	58	171
MUT:DMD:Glu2545Lys	PROT:P11532	DMD	E	2545	K	E2545K	Likely benign	0	1	58	107
MUT:DMD:Glu2733Gly	PROT:P11532	DMD	E	2733	G	E2733G	Likely benign	0	1	58	5
MUT:DMD:Glu2875Gly	PROT:P11532	DMD	E	2875	G	E2875G	Likely benign	0	1	58	38
MUT:DMD:Glu287Ala	PROT:P11532	DMD	E	287	A	E287A	Likely benign	0	1	58	229
MUT:DMD:Glu2910Val	PROT:P11532	DMD	E	2910	V	E2910V	Benign/Likely benign	0	11	58	3
MUT:DMD:Glu3032Lys	PROT:P11532	DMD	E	3032	K	E3032K	Likely benign	0	1	58	34
MUT:DMD:Glu3532Gly	PROT:P11532	DMD	E	3532	G	E3532G	Likely benign	0	1	58	5
MUT:DMD:Glu475Lys	PROT:P11532	DMD	E	475	K	E475K	Likely benign	0	1	58	197
MUT:DMD:Glu519Asp	PROT:P11532	DMD	E	519	D	E519D	Likely benign	0	1	58	153
MUT:DMD:Glu659Lys	PROT:P11532	DMD	E	659	K	E659K	Benign/Likely benign	0	1	58	13
MUT:DMD:Glu719Asp	PROT:P11532	DMD	E	719	D	E719D	Likely benign	0	1	58	40
MUT:DMD:Glu719Gln	PROT:P11532	DMD	E	719	Q	E719Q	Likely benign	0	1	58	40
MUT:DMD:Glu739Asp	PROT:P11532	DMD	E	739	D	E739D	Likely benign	0	2	58	60
MUT:DMD:Glu821Gly	PROT:P11532	DMD	E	821	G	E821G	Likely benign	0	1	58	60
MUT:DMD:Glu843Val	PROT:P11532	DMD	E	843	V	E843V	Likely benign	0	1	58	38
MUT:DMD:Glu991Gln	PROT:P11532	DMD	E	991	Q	E991Q	Benign/Likely benign	0	1	58	21
MUT:DMD:Gly109Ala	PROT:P11532	DMD	G	109	A	G109A	Likely benign	0	1	58	51
MUT:DMD:Gly1155Val	PROT:P11532	DMD	G	1155	V	G1155V	Likely benign	0	1	58	19
MUT:DMD:Gly1297Cys	PROT:P11532	DMD	G	1297	C	G1297C	Likely benign	0	1	58	145
MUT:DMD:Gly1804Arg	PROT:P11532	DMD	G	1804	R	G1804R	Likely benign	0	1	58	157
MUT:DMD:Gly1822Cys	PROT:P11532	DMD	G	1822	C	G1822C	Likely benign	0	1	58	175
MUT:DMD:Gly2097Val	PROT:P11532	DMD	G	2097	V	G2097V	Likely pathogenic	1	5	58	60
MUT:DMD:Gly3655Glu	PROT:P11532	DMD	G	3655	E	G3655E	Likely benign	0	1	58	3
MUT:DMD:Gly366Val	PROT:P11532	DMD	G	366	V	G366V	Likely benign	0	1	58	306
MUT:DMD:Gly522Arg	PROT:P11532	DMD	G	522	R	G522R	Likely benign	0	1	58	150
MUT:DMD:Gly754Val	PROT:P11532	DMD	G	754	V	G754V	Benign/Likely benign	0	2	58	75
MUT:DMD:Gly795Val	PROT:P11532	DMD	G	795	V	G795V	Likely benign	0	1	58	86
MUT:DMD:His104Leu	PROT:P11532	DMD	H	104	L	H104L	Likely benign	0	1	58	46
MUT:DMD:His1140Leu	PROT:P11532	DMD	H	1140	L	H1140L	Likely benign	0	1	58	4
MUT:DMD:His1762Leu	PROT:P11532	DMD	H	1762	L	H1762L	Likely benign	0	1	58	115
MUT:DMD:His1769Gln	PROT:P11532	DMD	H	1769	Q	H1769Q	Likely benign	0	1	58	122
MUT:DMD:His1769Tyr	PROT:P11532	DMD	H	1769	Y	H1769Y	Likely benign	0	1	58	122
MUT:DMD:His2921Arg	PROT:P11532	DMD	H	2921	R	H2921R	Benign/Likely benign	0	4	58	8
MUT:DMD:His3350Tyr	PROT:P11532	DMD	H	3350	Y	H3350Y	Likely benign	0	1	58	1
MUT:DMD:His3531Asp	PROT:P11532	DMD	H	3531	D	H3531D	Likely benign	0	1	58	6
MUT:DMD:His493Tyr	PROT:P11532	DMD	H	493	Y	H493Y	Likely benign	0	1	58	179
MUT:DMD:His524Gln	PROT:P11532	DMD	H	524	Q	H524Q	Likely benign	0	1	58	148
MUT:DMD:Ile1323Phe	PROT:P11532	DMD	I	1323	F	I1323F	Likely benign	0	1	58	119
MUT:DMD:Ile1340Met	PROT:P11532	DMD	I	1340	M	I1340M	Likely benign	0	1	58	102
MUT:DMD:Ile1369Val	PROT:P11532	DMD	I	1369	V	I1369V	Likely benign	0	1	58	73
MUT:DMD:Ile1771Met	PROT:P11532	DMD	I	1771	M	I1771M	Likely benign	0	1	58	124
MUT:DMD:Ile1790Thr	PROT:P11532	DMD	I	1790	T	I1790T	Likely benign	0	1	58	143
MUT:DMD:Ile1847Thr	PROT:P11532	DMD	I	1847	T	I1847T	Likely benign	0	1	58	190
MUT:DMD:Ile2115Met	PROT:P11532	DMD	I	2115	M	I2115M	Likely benign	0	1	58	78
MUT:DMD:Ile232Met	PROT:P11532	DMD	I	232	M	I232M	Benign/Likely benign	0	1	58	174
MUT:DMD:Ile2434Thr	PROT:P11532	DMD	I	2434	T	I2434T	Likely benign	0	1	58	218
MUT:DMD:Ile2510Val	PROT:P11532	DMD	I	2510	V	I2510V	Likely benign	0	1	58	142
MUT:DMD:Ile2762Val	PROT:P11532	DMD	I	2762	V	I2762V	Likely benign	0	1	58	34
MUT:DMD:Ile694Phe	PROT:P11532	DMD	I	694	F	I694F	Benign/Likely benign	0	1	58	15
MUT:DMD:Ile935Ser	PROT:P11532	DMD	I	935	S	I935S	Benign/Likely benign	0	1	58	54
MUT:DMD:Leu1032Pro	PROT:P11532	DMD	L	1032	P	L1032P	Likely benign	0	1	58	20
MUT:DMD:Leu108Pro	PROT:P11532	DMD	L	108	P	L108P	Likely pathogenic	1	1	58	50
MUT:DMD:Leu1166Val	PROT:P11532	DMD	L	1166	V	L1166V	Benign/Likely benign	0	1	58	30
MUT:DMD:Leu1364Ser	PROT:P11532	DMD	L	1364	S	L1364S	Likely benign	0	1	58	78
MUT:DMD:Leu140Val	PROT:P11532	DMD	L	140	V	L140V	Likely benign	0	1	58	82
MUT:DMD:Leu1720Ser	PROT:P11532	DMD	L	1720	S	L1720S	Likely benign	0	1	58	73
MUT:DMD:Leu1873Val	PROT:P11532	DMD	L	1873	V	L1873V	Likely benign	0	1	58	164
MUT:DMD:Leu2031Val	PROT:P11532	DMD	L	2031	V	L2031V	Likely benign	0	1	58	6
MUT:DMD:Leu2626Ser	PROT:P11532	DMD	L	2626	S	L2626S	Benign/Likely benign	0	1	58	26
MUT:DMD:Leu3014Phe	PROT:P11532	DMD	L	3014	F	L3014F	Likely benign	0	1	58	52
MUT:DMD:Leu341Gln	PROT:P11532	DMD	L	341	Q	L341Q	Likely benign	0	1	58	283
MUT:DMD:Leu3455Val	PROT:P11532	DMD	L	3455	V	L3455V	Likely benign	0	1	58	20
MUT:DMD:Leu356Phe	PROT:P11532	DMD	L	356	F	L356F	Likely benign	0	1	58	298
MUT:DMD:Leu54Arg	PROT:P11532	DMD	L	54	R	L54R	Pathogenic	1	1	58	4
MUT:DMD:Leu823Phe	PROT:P11532	DMD	L	823	F	L823F	Likely benign	0	1	58	58
MUT:DMD:Leu826Val	PROT:P11532	DMD	L	826	V	L826V	Likely benign	0	1	58	55
MUT:DMD:Leu962Val	PROT:P11532	DMD	L	962	V	L962V	Benign/Likely benign	0	1	58	50
MUT:DMD:Lys1061Arg	PROT:P11532	DMD	K	1061	R	K1061R	Benign	0	1	58	49
MUT:DMD:Lys1158Glu	PROT:P11532	DMD	K	1158	E	K1158E	Benign	0	1	58	22
MUT:DMD:Lys1400Glu	PROT:P11532	DMD	K	1400	E	K1400E	Likely benign	0	1	58	42
MUT:DMD:Lys1510Arg	PROT:P11532	DMD	K	1510	R	K1510R	Benign/Likely benign	0	2	58	68
MUT:DMD:Lys1623Arg	PROT:P11532	DMD	K	1623	R	K1623R	Likely benign	0	1	58	24
MUT:DMD:Lys1721Asn	PROT:P11532	DMD	K	1721	N	K1721N	Benign/Likely benign	0	3	58	74
MUT:DMD:Lys1857Arg	PROT:P11532	DMD	K	1857	R	K1857R	Likely benign	0	1	58	180
MUT:DMD:Lys1891Ile	PROT:P11532	DMD	K	1891	I	K1891I	Likely benign	0	1	58	146
MUT:DMD:Lys2321Asn	PROT:P11532	DMD	K	2321	N	K2321N	Likely benign	0	1	58	284
MUT:DMD:Lys2366Gln	PROT:P11532	DMD	K	2366	Q	K2366Q	Benign	0	2	58	286
MUT:DMD:Lys293Glu	PROT:P11532	DMD	K	293	E	K293E	Likely benign	0	1	58	235
MUT:DMD:Lys3214Asn	PROT:P11532	DMD	K	3214	N	K3214N	Likely benign	0	1	58	77
MUT:DMD:Lys3605Asn	PROT:P11532	DMD	K	3605	N	K3605N	Likely benign	0	1	58	5
MUT:DMD:Lys405Thr	PROT:P11532	DMD	K	405	T	K405T	Likely benign	0	1	58	267
MUT:DMD:Lys534Asn	PROT:P11532	DMD	K	534	N	K534N	Pathogenic	1	2	58	138
MUT:DMD:Lys607Gln	PROT:P11532	DMD	K	607	Q	K607Q	Likely benign	0	1	58	65
MUT:DMD:Lys773Glu	PROT:P11532	DMD	K	773	E	K773E	Pathogenic	1	1	58	94
MUT:DMD:Lys802Gln	PROT:P11532	DMD	K	802	Q	K802Q	Likely benign	0	1	58	79
MUT:DMD:Lys874Asn	PROT:P11532	DMD	K	874	N	K874N	Likely pathogenic	1	2	58	7
MUT:DMD:Lys898Asn	PROT:P11532	DMD	K	898	N	K898N	Likely benign	0	1	58	17
MUT:DMD:Met1521Thr	PROT:P11532	DMD	M	1521	T	M1521T	Likely benign	0	1	58	69
MUT:DMD:Met1985Val	PROT:P11532	DMD	M	1985	V	M1985V	Likely benign	0	2	58	52
MUT:DMD:Met1Leu	PROT:P11532	DMD	M	1	L	M1L	Pathogenic	1	1	58	18
MUT:DMD:Met2466Thr	PROT:P11532	DMD	M	2466	T	M2466T	Benign/Likely benign	0	1	58	186
MUT:DMD:Met335Thr	PROT:P11532	DMD	M	335	T	M335T	Likely benign	0	1	58	277
MUT:DMD:Met942Ile	PROT:P11532	DMD	M	942	I	M942I	Likely benign	0	1	58	61
MUT:DMD:Met948Val	PROT:P11532	DMD	M	948	V	M948V	Benign/Likely benign	0	2	58	64
MUT:DMD:Phe1388Val	PROT:P11532	DMD	F	1388	V	F1388V	Benign	0	2	58	54
MUT:DMD:Phe1458Tyr	PROT:P11532	DMD	F	1458	Y	F1458Y	Benign/Likely benign	0	1	58	16
MUT:DMD:Phe3228Leu	PROT:P11532	DMD	F	3228	L	F3228L	Benign/Likely benign	0	4	58	63
MUT:DMD:Phe571Leu	PROT:P11532	DMD	F	571	L	F571L	Benign/Likely benign	0	2	58	101
MUT:DMD:Phe835Leu	PROT:P11532	DMD	F	835	L	F835L	Likely benign	0	1	58	46
MUT:DMD:Pro1486Ser	PROT:P11532	DMD	P	1486	S	P1486S	Likely benign	0	2	58	44
MUT:DMD:Pro1796Ser	PROT:P11532	DMD	P	1796	S	P1796S	Likely benign	0	1	58	149
MUT:DMD:Pro2068Ser	PROT:P11532	DMD	P	2068	S	P2068S	Likely benign	0	1	58	31
MUT:DMD:Pro257Ser	PROT:P11532	DMD	P	257	S	P257S	Likely benign	0	1	58	199
MUT:DMD:Pro3144Ser	PROT:P11532	DMD	P	3144	S	P3144S	Likely benign	0	1	58	63
MUT:DMD:Pro3320Leu	PROT:P11532	DMD	P	3320	L	P3320L	Likely pathogenic	1	1	58	3
MUT:DMD:Pro3540Leu	PROT:P11532	DMD	P	3540	L	P3540L	Likely benign	0	1	58	1
MUT:DMD:Pro707Ala	PROT:P11532	DMD	P	707	A	P707A	Likely benign	0	1	58	28
MUT:DMD:Pro857Ser	PROT:P11532	DMD	P	857	S	P857S	Benign/Likely benign	0	2	58	24
MUT:DMD:Pro860Leu	PROT:P11532	DMD	P	860	L	P860L	Likely benign	0	1	58	21
MUT:DMD:Pro904Thr	PROT:P11532	DMD	P	904	T	P904T	Likely benign	0	1	58	23
MUT:DMD:Pro965Ser	PROT:P11532	DMD	P	965	S	P965S	Likely benign	0	1	58	47
MUT:DMD:Ser1007Leu	PROT:P11532	DMD	S	1007	L	S1007L	Benign/Likely benign	0	1	58	5
MUT:DMD:Ser2048Asn	PROT:P11532	DMD	S	2048	N	S2048N	Benign/Likely benign	0	1	58	11
MUT:DMD:Ser2179Asn	PROT:P11532	DMD	S	2179	N	S2179N	Likely benign	0	1	58	142
MUT:DMD:Ser2179Gly	PROT:P11532	DMD	S	2179	G	S2179G	Likely benign	0	1	58	142
MUT:DMD:Ser2235Asn	PROT:P11532	DMD	S	2235	N	S2235N	Likely benign	0	1	58	198
MUT:DMD:Ser2235Thr	PROT:P11532	DMD	S	2235	T	S2235T	Likely benign	0	1	58	198
MUT:DMD:Ser227Cys	PROT:P11532	DMD	S	227	C	S227C	Likely benign	0	1	58	169
MUT:DMD:Ser2384Tyr	PROT:P11532	DMD	S	2384	Y	S2384Y	Benign/Likely benign	0	2	58	268
MUT:DMD:Ser2457Phe	PROT:P11532	DMD	S	2457	F	S2457F	Likely benign	0	1	58	195
MUT:DMD:Ser3637Leu	PROT:P11532	DMD	S	3637	L	S3637L	Likely benign	0	1	58	13
MUT:DMD:Ser598Pro	PROT:P11532	DMD	S	598	P	S598P	Likely benign	0	1	58	74
MUT:DMD:Ser616Phe	PROT:P11532	DMD	S	616	F	S616F	Likely benign	0	1	58	56
MUT:DMD:Ser738Leu	PROT:P11532	DMD	S	738	L	S738L	Likely benign	0	1	58	59
MUT:DMD:Ser820Arg	PROT:P11532	DMD	S	820	R	S820R	Likely benign	0	1	58	61
MUT:DMD:Ser963Cys	PROT:P11532	DMD	S	963	C	S963C	Benign/Likely benign	0	1	58	49
MUT:DMD:Thr1136Ser	PROT:P11532	DMD	T	1136	S	T1136S	Benign/Likely benign	0	3	58	0
MUT:DMD:Thr1245Ile	PROT:P11532	DMD	T	1245	I	T1245I	Benign	0	2	58	109
MUT:DMD:Thr1647Met	PROT:P11532	DMD	T	1647	M	T1647M	Benign/Likely benign	0	2	58	0
MUT:DMD:Thr1683Ser	PROT:P11532	DMD	T	1683	S	T1683S	Benign/Likely benign	0	1	58	36
MUT:DMD:Thr1823Ser	PROT:P11532	DMD	T	1823	S	T1823S	Likely benign	0	1	58	176
MUT:DMD:Thr1948Ser	PROT:P11532	DMD	T	1948	S	T1948S	Likely benign	0	1	58	89
MUT:DMD:Thr2005Ser	PROT:P11532	DMD	T	2005	S	T2005S	Likely benign	0	1	58	32
MUT:DMD:Thr2067Met	PROT:P11532	DMD	T	2067	M	T2067M	Likely benign	0	1	58	30
MUT:DMD:Thr308Ile	PROT:P11532	DMD	T	308	I	T308I	Benign/Likely benign	0	2	58	250
MUT:DMD:Thr313Ile	PROT:P11532	DMD	T	313	I	T313I	Likely benign	0	1	58	255
MUT:DMD:Thr3616Pro	PROT:P11532	DMD	T	3616	P	T3616P	Benign	0	1	58	0
MUT:DMD:Thr409Ser	PROT:P11532	DMD	T	409	S	T409S	Benign/Likely benign	0	3	58	263
MUT:DMD:Thr418Ser	PROT:P11532	DMD	T	418	S	T418S	Benign/Likely benign	0	1	58	254
MUT:DMD:Thr471Ala	PROT:P11532	DMD	T	471	A	T471A	Likely benign	0	1	58	201
MUT:DMD:Thr471Ile	PROT:P11532	DMD	T	471	I	T471I	Likely benign	0	1	58	201
MUT:DMD:Thr565Ile	PROT:P11532	DMD	T	565	I	T565I	Likely benign	0	1	58	107
MUT:DMD:Thr630Ala	PROT:P11532	DMD	T	630	A	T630A	Benign/Likely benign	0	2	58	42
MUT:DMD:Thr637Ile	PROT:P11532	DMD	T	637	I	T637I	Likely benign	0	1	58	35
MUT:DMD:Thr670Ser	PROT:P11532	DMD	T	670	S	T670S	Likely benign	0	1	58	2
MUT:DMD:Thr687Met	PROT:P11532	DMD	T	687	M	T687M	Likely benign	0	1	58	8
MUT:DMD:Thr715Ser	PROT:P11532	DMD	T	715	S	T715S	Benign/Likely benign	0	2	58	36
MUT:DMD:Thr846Arg	PROT:P11532	DMD	T	846	R	T846R	Likely benign	0	1	58	35
MUT:DMD:Thr859Ser	PROT:P11532	DMD	T	859	S	T859S	Likely benign	0	1	58	22
MUT:DMD:Thr915Lys	PROT:P11532	DMD	T	915	K	T915K	Likely benign	0	1	58	34
MUT:DMD:Thr938Pro	PROT:P11532	DMD	T	938	P	T938P	Likely benign	0	1	58	57
MUT:DMD:Trp112Leu	PROT:P11532	DMD	W	112	L	W112L	Likely pathogenic	1	1	58	54
MUT:DMD:Trp2192Cys	PROT:P11532	DMD	W	2192	C	W2192C	Likely benign	0	1	58	155
MUT:DMD:Trp3416Cys	PROT:P11532	DMD	W	3416	C	W3416C	Likely benign	0	2	58	4
MUT:DMD:Tyr1187Cys	PROT:P11532	DMD	Y	1187	C	Y1187C	Likely benign	0	1	58	51
MUT:DMD:Tyr1995Asp	PROT:P11532	DMD	Y	1995	D	Y1995D	Likely benign	0	1	58	42
MUT:DMD:Tyr231Asn	PROT:P11532	DMD	Y	231	N	Y231N	Pathogenic	1	1	58	173
MUT:DMD:Tyr3354Cys	PROT:P11532	DMD	Y	3354	C	Y3354C	Likely benign	0	1	58	3
MUT:DMD:Val1145Leu	PROT:P11532	DMD	V	1145	L	V1145L	Benign/Likely benign	0	1	58	9
MUT:DMD:Val1197Ala	PROT:P11532	DMD	V	1197	A	V1197A	Likely benign	0	1	58	61
MUT:DMD:Val1530Ile	PROT:P11532	DMD	V	1530	I	V1530I	Likely benign	0	1	58	60
MUT:DMD:Val1600Leu	PROT:P11532	DMD	V	1600	L	V1600L	Likely benign	0	1	58	10
MUT:DMD:Val1626Glu	PROT:P11532	DMD	V	1626	E	V1626E	Benign/Likely benign	0	1	58	21
MUT:DMD:Val1626Met	PROT:P11532	DMD	V	1626	M	V1626M	Benign/Likely benign	0	2	58	21
MUT:DMD:Val1649Leu	PROT:P11532	DMD	V	1649	L	V1649L	Likely benign	0	1	58	2
MUT:DMD:Val1805Met	PROT:P11532	DMD	V	1805	M	V1805M	Likely benign	0	1	58	158
MUT:DMD:Val2279Leu	PROT:P11532	DMD	V	2279	L	V2279L	Likely benign	0	1	58	242
MUT:DMD:Val2365Ile	PROT:P11532	DMD	V	2365	I	V2365I	Benign/Likely benign	0	1	58	287
MUT:DMD:Val3418Ile	PROT:P11532	DMD	V	3418	I	V3418I	Likely benign	0	1	58	2
MUT:DMD:Val3611Ala	PROT:P11532	DMD	V	3611	A	V3611A	Likely benign	0	1	58	1
MUT:DMD:Val3632Ala	PROT:P11532	DMD	V	3632	A	V3632A	Likely benign	0	1	58	8
MUT:DMD:Val505Leu	PROT:P11532	DMD	V	505	L	V505L	Benign/Likely benign	0	6	58	167
MUT:DMD:Val582Leu	PROT:P11532	DMD	V	582	L	V582L	Likely benign	0	1	58	90
MUT:DMD:Val796Ile	PROT:P11532	DMD	V	796	I	V796I	Benign/Likely benign	0	1	58	85
MUT:DMD:Val877Gly	PROT:P11532	DMD	V	877	G	V877G	Likely benign	0	1	58	4
MUT:DMD:Val912Leu	PROT:P11532	DMD	V	912	L	V912L	Likely benign	0	1	58	31
MUT:DMGDH:His109Arg	PROT:Q9UI17	DMGDH	H	109	R	H109R	Likely pathogenic	1	1	5	9
MUT:DMGDH:Leu300Phe	PROT:Q9UI17	DMGDH	L	300	F	L300F	Benign/Likely benign	0	1	5	80
MUT:DMGDH:Phe754Ser	PROT:Q9UI17	DMGDH	F	754	S	F754S	Benign	0	1	5	534
MUT:DMGDH:Tyr186Cys	PROT:Q9UI17	DMGDH	Y	186	C	Y186C	Likely benign	0	1	5	29
MUT:DMPK:Ala613Ser	PROT:Q09013	DMPK	A	613	S	A613S	Likely benign	0	1	1	385
MUT:DMPK:Arg311Gln	PROT:Q09013	DMPK	R	311	Q	R311Q	Likely benign	0	1	1	83
MUT:DMPK:Arg493Cys	PROT:Q09013	DMPK	R	493	C	R493C	Likely benign	0	2	1	265
MUT:DMPK:Arg9Gln	PROT:Q09013	DMPK	R	9	Q	R9Q	Likely benign	0	1	1	219
MUT:DMPK:Asp69Asn	PROT:Q09013	DMPK	D	69	N	D69N	Benign	0	1	1	159
MUT:DMPK:Gln445Arg	PROT:Q09013	DMPK	Q	445	R	Q445R	Likely benign	0	1	1	217
MUT:DMPK:Ile607Thr	PROT:Q09013	DMPK	I	607	T	I607T	Likely benign	0	1	1	379
MUT:DMPK:Leu423Val	PROT:Q09013	DMPK	L	423	V	L423V	Benign	0	1	1	195
MUT:DMPK:Leu429Pro	PROT:Q09013	DMPK	L	429	P	L429P	Likely benign	0	1	1	201
MUT:DMPK:Pro337Arg	PROT:Q09013	DMPK	P	337	R	P337R	Likely benign	0	1	1	109
MUT:DMPK:Val597Asp	PROT:Q09013	DMPK	V	597	D	V597D	Benign	0	1	1	369
MUT:DMWD:Ala582Val	PROT:Q09019	DMWD	A	582	V	A582V	Benign	0	1	12	66
MUT:DMWD:Pro471Ser	PROT:Q09019	DMWD	P	471	S	P471S	Benign	0	1	12	2
MUT:DMXL1:Ala2358Thr	PROT:Q9Y485	DMXL1	A	2358	T	A2358T	Benign	0	1	35	49
MUT:DMXL1:Arg203Gln	PROT:Q9Y485	DMXL1	R	203	Q	R203Q	Benign	0	1	35	5
MUT:DMXL1:Asn2463Ser	PROT:Q9Y485	DMXL1	N	2463	S	N2463S	Benign	0	1	35	19
MUT:DMXL1:Asp1100Gly	PROT:Q9Y485	DMXL1	D	1100	G	D1100G	Likely benign	0	1	35	38
MUT:DMXL1:Asp1107Tyr	PROT:Q9Y485	DMXL1	D	1107	Y	D1107Y	Benign	0	1	35	45
MUT:DMXL1:Asp1597Asn	PROT:Q9Y485	DMXL1	D	1597	N	D1597N	Benign	0	1	35	86
MUT:DMXL1:Cys1239Ser	PROT:Q9Y485	DMXL1	C	1239	S	C1239S	Benign	0	1	35	32
MUT:DMXL1:Gln1926Arg	PROT:Q9Y485	DMXL1	Q	1926	R	Q1926R	Benign	0	1	35	18
MUT:DMXL1:Gln2531His	PROT:Q9Y485	DMXL1	Q	2531	H	Q2531H	Benign	0	1	35	87
MUT:DMXL1:Glu1985Gln	PROT:Q9Y485	DMXL1	E	1985	Q	E1985Q	Benign	0	1	35	77
MUT:DMXL1:Glu2402Ala	PROT:Q9Y485	DMXL1	E	2402	A	E2402A	Benign	0	1	35	5
MUT:DMXL1:Glu2636Gln	PROT:Q9Y485	DMXL1	E	2636	Q	E2636Q	Likely benign	0	1	35	192
MUT:DMXL1:Glu906Lys	PROT:Q9Y485	DMXL1	E	906	K	E906K	Benign	0	1	35	9
MUT:DMXL1:Ile2000Val	PROT:Q9Y485	DMXL1	I	2000	V	I2000V	Benign	0	4	35	92
MUT:DMXL1:Leu1898Pro	PROT:Q9Y485	DMXL1	L	1898	P	L1898P	Benign	0	1	35	2
MUT:DMXL1:Met1589Val	PROT:Q9Y485	DMXL1	M	1589	V	M1589V	Benign	0	1	35	94
MUT:DMXL1:Ser1039Cys	PROT:Q9Y485	DMXL1	S	1039	C	S1039C	Benign	0	1	35	23
MUT:DMXL1:Ser466Arg	PROT:Q9Y485	DMXL1	S	466	R	S466R	Benign/Likely benign	0	1	35	30
MUT:DMXL1:Ser851Asn	PROT:Q9Y485	DMXL1	S	851	N	S851N	Benign	0	1	35	2
MUT:DMXL1:Thr1259Ile	PROT:Q9Y485	DMXL1	T	1259	I	T1259I	Benign	0	1	35	12
MUT:DMXL1:Thr2107Ser	PROT:Q9Y485	DMXL1	T	2107	S	T2107S	Benign	0	1	35	1
MUT:DMXL1:Thr2298Ser	PROT:Q9Y485	DMXL1	T	2298	S	T2298S	Benign	0	1	35	109
MUT:DMXL1:Tyr1476Cys	PROT:Q9Y485	DMXL1	Y	1476	C	Y1476C	Benign	0	1	35	42
MUT:DMXL1:Val2067Met	PROT:Q9Y485	DMXL1	V	2067	M	V2067M	Benign	0	1	35	41
MUT:DMXL1:Val648Ile	PROT:Q9Y485	DMXL1	V	648	I	V648I	Benign	0	1	35	54
MUT:DNAAF11:Arg44Gln	PROT:Q86X45	DNAAF11	R	44	Q	R44Q	Benign/Likely benign	0	2	2	26
MUT:DNAAF11:Asn61Lys	PROT:Q86X45	DNAAF11	N	61	K	N61K	Pathogenic/Likely pathogenic	1	1	2	9
MUT:DNAAF11:Asp146His	PROT:Q86X45	DNAAF11	D	146	H	D146H	Pathogenic/Likely pathogenic	1	3	2	76
MUT:DNAAF11:Gly388Ser	PROT:Q86X45	DNAAF11	G	388	S	G388S	Benign/Likely benign	0	2	2	145
MUT:DNAAF11:Gly57Trp	PROT:Q86X45	DNAAF11	G	57	W	G57W	Likely benign	0	1	2	13
MUT:DNAAF11:Ile448Thr	PROT:Q86X45	DNAAF11	I	448	T	I448T	Benign	0	2	2	205
MUT:DNAAF11:Ile466Thr	PROT:Q86X45	DNAAF11	I	466	T	I466T	Benign/Likely benign	0	2	2	223
MUT:DNAAF11:Leu109Trp	PROT:Q86X45	DNAAF11	L	109	W	L109W	Likely pathogenic	1	1	2	39
MUT:DNAAF11:Lys393Thr	PROT:Q86X45	DNAAF11	K	393	T	K393T	Likely benign	0	1	2	150
MUT:DNAAF11:Met1Val	PROT:Q86X45	DNAAF11	M	1	V	M1V	Pathogenic	1	1	2	69
MUT:DNAAF11:Pro288His	PROT:Q86X45	DNAAF11	P	288	H	P288H	Benign	0	2	2	45
MUT:DNAAF11:Ser399Leu	PROT:Q86X45	DNAAF11	S	399	L	S399L	Likely benign	0	1	2	156
MUT:DNAAF11:Thr232Ile	PROT:Q86X45	DNAAF11	T	232	I	T232I	Benign	0	2	2	11
MUT:DNAAF19:Arg61Gln	PROT:Q8IW40	DNAAF19	R	61	Q	R61Q	Likely benign	0	1	5	30
MUT:DNAAF19:Glu46Asp	PROT:Q8IW40	DNAAF19	E	46	D	E46D	Likely benign	0	1	5	32
MUT:DNAAF19:His154Pro	PROT:Q8IW40	DNAAF19	H	154	P	H154P	Pathogenic/Likely pathogenic	1	6	5	43
MUT:DNAAF19:Thr21Ala	PROT:Q8IW40	DNAAF19	T	21	A	T21A	Likely benign	0	1	5	7
MUT:DNAAF2:Ala425Thr	PROT:Q9NVR5	DNAAF2	A	425	T	A425T	Likely benign	0	1	13	21
MUT:DNAAF2:Arg269Gly	PROT:Q9NVR5	DNAAF2	R	269	G	R269G	Likely benign	0	2	13	29
MUT:DNAAF2:Arg487Cys	PROT:Q9NVR5	DNAAF2	R	487	C	R487C	Benign/Likely benign	0	2	13	41
MUT:DNAAF2:Asn48Lys	PROT:Q9NVR5	DNAAF2	N	48	K	N48K	Benign	0	2	13	144
MUT:DNAAF2:Asn528His	PROT:Q9NVR5	DNAAF2	N	528	H	N528H	Likely benign	0	1	13	30
MUT:DNAAF2:Asp110Gly	PROT:Q9NVR5	DNAAF2	D	110	G	D110G	Likely benign	0	1	13	82
MUT:DNAAF2:Asp768Gly	PROT:Q9NVR5	DNAAF2	D	768	G	D768G	Benign	0	2	13	5
MUT:DNAAF2:Cys469Tyr	PROT:Q9NVR5	DNAAF2	C	469	Y	C469Y	Benign/Likely benign	0	2	13	23
MUT:DNAAF2:Glu243Ala	PROT:Q9NVR5	DNAAF2	E	243	A	E243A	Benign/Likely benign	0	2	13	3
MUT:DNAAF2:Glu356Asp	PROT:Q9NVR5	DNAAF2	E	356	D	E356D	Likely benign	0	1	13	90
MUT:DNAAF2:Glu62Asp	PROT:Q9NVR5	DNAAF2	E	62	D	E62D	Benign	0	2	13	130
MUT:DNAAF2:Gly235Arg	PROT:Q9NVR5	DNAAF2	G	235	R	G235R	Likely benign	0	1	13	5
MUT:DNAAF2:Ile719Thr	PROT:Q9NVR5	DNAAF2	I	719	T	I719T	Likely benign	0	1	13	54
MUT:DNAAF2:Leu320Arg	PROT:Q9NVR5	DNAAF2	L	320	R	L320R	Likely benign	0	1	13	80
MUT:DNAAF2:Leu415Val	PROT:Q9NVR5	DNAAF2	L	415	V	L415V	Likely benign	0	1	13	31
MUT:DNAAF2:Leu440Phe	PROT:Q9NVR5	DNAAF2	L	440	F	L440F	Likely benign	0	1	13	6
MUT:DNAAF2:Pro236Leu	PROT:Q9NVR5	DNAAF2	P	236	L	P236L	Benign/Likely benign	0	2	13	4
MUT:DNAAF2:Pro456Leu	PROT:Q9NVR5	DNAAF2	P	456	L	P456L	Benign/Likely benign	0	2	13	10
MUT:DNAAF2:Ser136Gly	PROT:Q9NVR5	DNAAF2	S	136	G	S136G	Likely benign	0	1	13	56
MUT:DNAAF2:Thr726Ala	PROT:Q9NVR5	DNAAF2	T	726	A	T726A	Benign/Likely benign	0	2	13	47
MUT:DNAAF2:Tyr226His	PROT:Q9NVR5	DNAAF2	Y	226	H	Y226H	Likely benign	0	1	13	14
MUT:DNAAF3:Ala351Ser	PROT:Q8N9W5	DNAAF3	A	351	S	A351S	Likely pathogenic	1	1	2	47
MUT:DNAAF3:Ala351Thr	PROT:Q8N9W5	DNAAF3	A	351	T	A351T	Likely pathogenic	1	1	2	47
MUT:DNAAF3:Asn252Ser	PROT:Q8N9W5	DNAAF3	N	252	S	N252S	Pathogenic/Likely pathogenic	1	2	2	16
MUT:DNAAF3:Asn377Lys	PROT:Q8N9W5	DNAAF3	N	377	K	N377K	Likely benign	0	1	2	73
MUT:DNAAF3:Asp333Glu	PROT:Q8N9W5	DNAAF3	D	333	E	D333E	Likely benign	0	1	2	29
MUT:DNAAF3:Cys375Tyr	PROT:Q8N9W5	DNAAF3	C	375	Y	C375Y	Benign/Likely benign	0	2	2	71
MUT:DNAAF3:Glu111Lys	PROT:Q8N9W5	DNAAF3	E	111	K	E111K	Likely pathogenic	1	1	2	125
MUT:DNAAF3:Glu292Gly	PROT:Q8N9W5	DNAAF3	E	292	G	E292G	Benign/Likely benign	0	2	2	12
MUT:DNAAF3:Gly177Ser	PROT:Q8N9W5	DNAAF3	G	177	S	G177S	Benign/Likely benign	0	1	2	59
MUT:DNAAF3:Leu334Pro	PROT:Q8N9W5	DNAAF3	L	334	P	L334P	Benign/Likely benign	0	1	2	30
MUT:DNAAF3:Leu483Pro	PROT:Q8N9W5	DNAAF3	L	483	P	L483P	Likely benign	0	1	2	179
MUT:DNAAF3:Leu61Pro	PROT:Q8N9W5	DNAAF3	L	61	P	L61P	Pathogenic	1	1	2	175
MUT:DNAAF3:Phe285Ser	PROT:Q8N9W5	DNAAF3	F	285	S	F285S	Likely pathogenic	1	1	2	19
MUT:DNAAF3:Pro281Arg	PROT:Q8N9W5	DNAAF3	P	281	R	P281R	Likely pathogenic	1	1	2	23
MUT:DNAAF3:Pro281Leu	PROT:Q8N9W5	DNAAF3	P	281	L	P281L	Likely pathogenic	1	1	2	23
MUT:DNAAF3:Ser95Asn	PROT:Q8N9W5	DNAAF3	S	95	N	S95N	Likely benign	0	1	2	141
MUT:DNAAF3:Thr330Ile	PROT:Q8N9W5	DNAAF3	T	330	I	T330I	Benign/Likely benign	0	3	2	26
MUT:DNAAF3:Val469Met	PROT:Q8N9W5	DNAAF3	V	469	M	V469M	Benign/Likely benign	0	2	2	165
MUT:DNAAF4:Arg330Trp	PROT:Q8WXU2	DNAAF4	R	330	W	R330W	Pathogenic/Likely pathogenic	1	2	1	228
MUT:DNAAF4:Glu191Gly	PROT:Q8WXU2	DNAAF4	E	191	G	E191G	Benign	0	1	1	89
MUT:DNAAF4:Met1Ile	PROT:Q8WXU2	DNAAF4	M	1	I	M1I	Likely pathogenic	1	1	1	101
MUT:DNAAF4:Val91Ile	PROT:Q8WXU2	DNAAF4	V	91	I	V91I	Benign	0	1	1	11
MUT:DNAH10:Ala2973Thr	PROT:Q8IVF4	DNAH10	A	2973	T	A2973T	Benign	0	1	6	755
MUT:DNAH10:Arg1654Cys	PROT:Q8IVF4	DNAH10	R	1654	C	R1654C	Benign	0	1	6	77
MUT:DNAH10:Arg258Trp	PROT:Q8IVF4	DNAH10	R	258	W	R258W	Likely pathogenic	1	1	6	182
MUT:DNAH10:Arg4470Cys	PROT:Q8IVF4	DNAH10	R	4470	C	R4470C	Benign	0	1	6	742
MUT:DNAH10:Asn2601Ser	PROT:Q8IVF4	DNAH10	N	2601	S	N2601S	Benign	0	2	6	870
MUT:DNAH10:Asp1885Glu	PROT:Q8IVF4	DNAH10	D	1885	E	D1885E	Benign	0	1	6	154
MUT:DNAH10:Asp3582Glu	PROT:Q8IVF4	DNAH10	D	3582	E	D3582E	Benign	0	1	6	146
MUT:DNAH10:Asp3631Asn	PROT:Q8IVF4	DNAH10	D	3631	N	D3631N	Benign	0	1	6	97
MUT:DNAH10:Glu1481Lys	PROT:Q8IVF4	DNAH10	E	1481	K	E1481K	Likely benign	0	1	6	250
MUT:DNAH10:Gly4398Arg	PROT:Q8IVF4	DNAH10	G	4398	R	G4398R	Likely pathogenic	1	1	6	670
MUT:DNAH10:Gly874Ser	PROT:Q8IVF4	DNAH10	G	874	S	G874S	Benign	0	2	6	23
MUT:DNAH10:His1171Tyr	PROT:Q8IVF4	DNAH10	H	1171	Y	H1171Y	Benign	0	2	6	320
MUT:DNAH10:Ile4094Thr	PROT:Q8IVF4	DNAH10	I	4094	T	I4094T	Benign/Likely benign	0	1	6	366
MUT:DNAH10:Ile4533Val	PROT:Q8IVF4	DNAH10	I	4533	V	I4533V	Likely benign	0	1	6	805
MUT:DNAH10:Leu2453His	PROT:Q8IVF4	DNAH10	L	2453	H	L2453H	Benign	0	1	6	722
MUT:DNAH10:Lys3279Glu	PROT:Q8IVF4	DNAH10	K	3279	E	K3279E	Benign	0	1	6	449
MUT:DNAH10:Met1636Val	PROT:Q8IVF4	DNAH10	M	1636	V	M1636V	Benign	0	1	6	95
MUT:DNAH10:Tyr736Phe	PROT:Q8IVF4	DNAH10	Y	736	F	Y736F	Likely benign	0	1	6	113
MUT:DNAH10:Val1661Ile	PROT:Q8IVF4	DNAH10	V	1661	I	V1661I	Benign	0	1	6	70
MUT:DNAH10:Val3934Phe	PROT:Q8IVF4	DNAH10	V	3934	F	V3934F	Benign	0	1	6	206
MUT:DNAH11:Ala107Val	PROT:Q96DT5	DNAH11	A	107	V	A107V	Likely benign	0	1	5	342
MUT:DNAH11:Ala1178Ser	PROT:Q96DT5	DNAH11	A	1178	S	A1178S	Likely benign	0	1	5	56
MUT:DNAH11:Ala1229Ser	PROT:Q96DT5	DNAH11	A	1229	S	A1229S	Likely benign	0	1	5	107
MUT:DNAH11:Ala1242Glu	PROT:Q96DT5	DNAH11	A	1242	E	A1242E	Benign	0	1	5	120
MUT:DNAH11:Ala1242Val	PROT:Q96DT5	DNAH11	A	1242	V	A1242V	Benign	0	1	5	120
MUT:DNAH11:Ala1269Thr	PROT:Q96DT5	DNAH11	A	1269	T	A1269T	Likely benign	0	1	5	147
MUT:DNAH11:Ala1275Gly	PROT:Q96DT5	DNAH11	A	1275	G	A1275G	Benign	0	1	5	153
MUT:DNAH11:Ala1281Val	PROT:Q96DT5	DNAH11	A	1281	V	A1281V	Benign	0	1	5	159
MUT:DNAH11:Ala1392Thr	PROT:Q96DT5	DNAH11	A	1392	T	A1392T	Benign	0	1	5	270
MUT:DNAH11:Ala1430Val	PROT:Q96DT5	DNAH11	A	1430	V	A1430V	Likely benign	0	1	5	308
MUT:DNAH11:Ala1654Gly	PROT:Q96DT5	DNAH11	A	1654	G	A1654G	Benign/Likely benign	0	1	5	532
MUT:DNAH11:Ala1673Thr	PROT:Q96DT5	DNAH11	A	1673	T	A1673T	Benign	0	1	5	551
MUT:DNAH11:Ala16Val	PROT:Q96DT5	DNAH11	A	16	V	A16V	Benign/Likely benign	0	1	5	433
MUT:DNAH11:Ala1757Ser	PROT:Q96DT5	DNAH11	A	1757	S	A1757S	Benign	0	1	5	635
MUT:DNAH11:Ala1757Val	PROT:Q96DT5	DNAH11	A	1757	V	A1757V	Benign	0	1	5	635
MUT:DNAH11:Ala1768Thr	PROT:Q96DT5	DNAH11	A	1768	T	A1768T	Benign	0	1	5	646
MUT:DNAH11:Ala1892Asp	PROT:Q96DT5	DNAH11	A	1892	D	A1892D	Likely benign	0	1	5	770
MUT:DNAH11:Ala1909Val	PROT:Q96DT5	DNAH11	A	1909	V	A1909V	Likely benign	0	1	5	787
MUT:DNAH11:Ala2011Thr	PROT:Q96DT5	DNAH11	A	2011	T	A2011T	Likely benign	0	1	5	889
MUT:DNAH11:Ala2041Ser	PROT:Q96DT5	DNAH11	A	2041	S	A2041S	Likely benign	0	1	5	919
MUT:DNAH11:Ala2096Val	PROT:Q96DT5	DNAH11	A	2096	V	A2096V	Benign	0	1	5	890
MUT:DNAH11:Ala2123Gly	PROT:Q96DT5	DNAH11	A	2123	G	A2123G	Likely benign	0	1	5	863
MUT:DNAH11:Ala2220Gly	PROT:Q96DT5	DNAH11	A	2220	G	A2220G	Benign	0	1	5	766
MUT:DNAH11:Ala2283Val	PROT:Q96DT5	DNAH11	A	2283	V	A2283V	Likely benign	0	1	5	703
MUT:DNAH11:Ala2314Val	PROT:Q96DT5	DNAH11	A	2314	V	A2314V	Benign	0	1	5	672
MUT:DNAH11:Ala2331Gly	PROT:Q96DT5	DNAH11	A	2331	G	A2331G	Likely benign	0	1	5	655
MUT:DNAH11:Ala2428Gly	PROT:Q96DT5	DNAH11	A	2428	G	A2428G	Benign	0	1	5	558
MUT:DNAH11:Ala2440Val	PROT:Q96DT5	DNAH11	A	2440	V	A2440V	Likely benign	0	1	5	546
MUT:DNAH11:Ala2490Val	PROT:Q96DT5	DNAH11	A	2490	V	A2490V	Likely benign	0	1	5	496
MUT:DNAH11:Ala2512Glu	PROT:Q96DT5	DNAH11	A	2512	E	A2512E	Likely benign	0	1	5	474
MUT:DNAH11:Ala25Pro	PROT:Q96DT5	DNAH11	A	25	P	A25P	Likely benign	0	1	5	424
MUT:DNAH11:Ala25Thr	PROT:Q96DT5	DNAH11	A	25	T	A25T	Benign	0	1	5	424
MUT:DNAH11:Ala2670Ser	PROT:Q96DT5	DNAH11	A	2670	S	A2670S	Likely benign	0	1	5	316
MUT:DNAH11:Ala2743Thr	PROT:Q96DT5	DNAH11	A	2743	T	A2743T	Likely benign	0	1	5	243
MUT:DNAH11:Ala3007Thr	PROT:Q96DT5	DNAH11	A	3007	T	A3007T	Likely benign	0	1	5	21
MUT:DNAH11:Ala3013Val	PROT:Q96DT5	DNAH11	A	3013	V	A3013V	Benign	0	1	5	27
MUT:DNAH11:Ala3018Val	PROT:Q96DT5	DNAH11	A	3018	V	A3018V	Likely benign	0	1	5	32
MUT:DNAH11:Ala3118Ser	PROT:Q96DT5	DNAH11	A	3118	S	A3118S	Benign	0	1	5	132
MUT:DNAH11:Ala3134Val	PROT:Q96DT5	DNAH11	A	3134	V	A3134V	Benign	0	1	5	148
MUT:DNAH11:Ala3136Val	PROT:Q96DT5	DNAH11	A	3136	V	A3136V	Benign	0	1	5	150
MUT:DNAH11:Ala3155Gly	PROT:Q96DT5	DNAH11	A	3155	G	A3155G	Benign	0	1	5	169
MUT:DNAH11:Ala3155Thr	PROT:Q96DT5	DNAH11	A	3155	T	A3155T	Benign	0	1	5	169
MUT:DNAH11:Ala3189Val	PROT:Q96DT5	DNAH11	A	3189	V	A3189V	Benign	0	1	5	203
MUT:DNAH11:Ala3207Thr	PROT:Q96DT5	DNAH11	A	3207	T	A3207T	Benign	0	1	5	221
MUT:DNAH11:Ala3214Ser	PROT:Q96DT5	DNAH11	A	3214	S	A3214S	Benign	0	1	5	228
MUT:DNAH11:Ala3241Thr	PROT:Q96DT5	DNAH11	A	3241	T	A3241T	Benign	0	1	5	255
MUT:DNAH11:Ala324Val	PROT:Q96DT5	DNAH11	A	324	V	A324V	Benign/Likely benign	0	2	5	125
MUT:DNAH11:Ala3298Ser	PROT:Q96DT5	DNAH11	A	3298	S	A3298S	Likely benign	0	1	5	312
MUT:DNAH11:Ala3321Thr	PROT:Q96DT5	DNAH11	A	3321	T	A3321T	Benign	0	1	5	335
MUT:DNAH11:Ala3329Gly	PROT:Q96DT5	DNAH11	A	3329	G	A3329G	Benign	0	1	5	343
MUT:DNAH11:Ala3330Thr	PROT:Q96DT5	DNAH11	A	3330	T	A3330T	Likely benign	0	1	5	344
MUT:DNAH11:Ala3379Val	PROT:Q96DT5	DNAH11	A	3379	V	A3379V	Likely benign	0	1	5	393
MUT:DNAH11:Ala3415Val	PROT:Q96DT5	DNAH11	A	3415	V	A3415V	Likely benign	0	1	5	429
MUT:DNAH11:Ala3463Thr	PROT:Q96DT5	DNAH11	A	3463	T	A3463T	Benign	0	1	5	444
MUT:DNAH11:Ala3467Thr	PROT:Q96DT5	DNAH11	A	3467	T	A3467T	Benign	0	2	5	440
MUT:DNAH11:Ala3484Thr	PROT:Q96DT5	DNAH11	A	3484	T	A3484T	Benign/Likely benign	0	1	5	423
MUT:DNAH11:Ala3527Thr	PROT:Q96DT5	DNAH11	A	3527	T	A3527T	Likely benign	0	1	5	380
MUT:DNAH11:Ala3527Val	PROT:Q96DT5	DNAH11	A	3527	V	A3527V	Benign	0	1	5	380
MUT:DNAH11:Ala3531Thr	PROT:Q96DT5	DNAH11	A	3531	T	A3531T	Likely benign	0	1	5	376
MUT:DNAH11:Ala3614Asp	PROT:Q96DT5	DNAH11	A	3614	D	A3614D	Likely benign	0	1	5	293
MUT:DNAH11:Ala3659Glu	PROT:Q96DT5	DNAH11	A	3659	E	A3659E	Likely benign	0	1	5	248
MUT:DNAH11:Ala3659Val	PROT:Q96DT5	DNAH11	A	3659	V	A3659V	Benign	0	1	5	248
MUT:DNAH11:Ala3676Thr	PROT:Q96DT5	DNAH11	A	3676	T	A3676T	Likely benign	0	1	5	231
MUT:DNAH11:Ala3743Val	PROT:Q96DT5	DNAH11	A	3743	V	A3743V	Benign	0	1	5	164
MUT:DNAH11:Ala3851Val	PROT:Q96DT5	DNAH11	A	3851	V	A3851V	Benign	0	1	5	56
MUT:DNAH11:Ala3886Thr	PROT:Q96DT5	DNAH11	A	3886	T	A3886T	Benign	0	1	5	21
MUT:DNAH11:Ala3919Glu	PROT:Q96DT5	DNAH11	A	3919	E	A3919E	Benign	0	1	5	12
MUT:DNAH11:Ala3995Pro	PROT:Q96DT5	DNAH11	A	3995	P	A3995P	Benign/Likely benign	0	1	5	88
MUT:DNAH11:Ala3Val	PROT:Q96DT5	DNAH11	A	3	V	A3V	Likely benign	0	1	5	446
MUT:DNAH11:Ala4022Pro	PROT:Q96DT5	DNAH11	A	4022	P	A4022P	Likely pathogenic	1	1	5	115
MUT:DNAH11:Ala4058Val	PROT:Q96DT5	DNAH11	A	4058	V	A4058V	Likely benign	0	1	5	151
MUT:DNAH11:Ala4237Val	PROT:Q96DT5	DNAH11	A	4237	V	A4237V	Likely benign	0	1	5	330
MUT:DNAH11:Ala4315Thr	PROT:Q96DT5	DNAH11	A	4315	T	A4315T	Benign	0	1	5	408
MUT:DNAH11:Ala4372Val	PROT:Q96DT5	DNAH11	A	4372	V	A4372V	Likely benign	0	1	5	465
MUT:DNAH11:Ala4436Thr	PROT:Q96DT5	DNAH11	A	4436	T	A4436T	Pathogenic	1	1	5	529
MUT:DNAH11:Ala4516Val	PROT:Q96DT5	DNAH11	A	4516	V	A4516V	Benign/Likely benign	0	2	5	609
MUT:DNAH11:Ala46Val	PROT:Q96DT5	DNAH11	A	46	V	A46V	Benign	0	1	5	403
MUT:DNAH11:Ala50Thr	PROT:Q96DT5	DNAH11	A	50	T	A50T	Benign	0	1	5	399
MUT:DNAH11:Ala539Thr	PROT:Q96DT5	DNAH11	A	539	T	A539T	Benign	0	1	5	90
MUT:DNAH11:Ala568Thr	PROT:Q96DT5	DNAH11	A	568	T	A568T	Benign/Likely benign	0	1	5	119
MUT:DNAH11:Ala653Val	PROT:Q96DT5	DNAH11	A	653	V	A653V	Benign	0	1	5	204
MUT:DNAH11:Ala666Gly	PROT:Q96DT5	DNAH11	A	666	G	A666G	Benign	0	1	5	217
MUT:DNAH11:Ala666Ser	PROT:Q96DT5	DNAH11	A	666	S	A666S	Likely benign	0	1	5	217
MUT:DNAH11:Ala845Thr	PROT:Q96DT5	DNAH11	A	845	T	A845T	Likely benign	0	1	5	274
MUT:DNAH11:Ala859Val	PROT:Q96DT5	DNAH11	A	859	V	A859V	Benign/Likely benign	0	1	5	260
MUT:DNAH11:Arg1013Gly	PROT:Q96DT5	DNAH11	R	1013	G	R1013G	Likely benign	0	1	5	106
MUT:DNAH11:Arg1031Thr	PROT:Q96DT5	DNAH11	R	1031	T	R1031T	Likely benign	0	1	5	88
MUT:DNAH11:Arg1045Leu	PROT:Q96DT5	DNAH11	R	1045	L	R1045L	Likely benign	0	1	5	74
MUT:DNAH11:Arg1103Gly	PROT:Q96DT5	DNAH11	R	1103	G	R1103G	Benign	0	1	5	16
MUT:DNAH11:Arg1137Ile	PROT:Q96DT5	DNAH11	R	1137	I	R1137I	Benign	0	1	5	15
MUT:DNAH11:Arg11Gly	PROT:Q96DT5	DNAH11	R	11	G	R11G	Likely benign	0	1	5	438
MUT:DNAH11:Arg11Pro	PROT:Q96DT5	DNAH11	R	11	P	R11P	Benign	0	1	5	438
MUT:DNAH11:Arg1248Thr	PROT:Q96DT5	DNAH11	R	1248	T	R1248T	Likely benign	0	1	5	126
MUT:DNAH11:Arg1262Ile	PROT:Q96DT5	DNAH11	R	1262	I	R1262I	Likely benign	0	1	5	140
MUT:DNAH11:Arg1304His	PROT:Q96DT5	DNAH11	R	1304	H	R1304H	Benign	0	1	5	182
MUT:DNAH11:Arg1320Cys	PROT:Q96DT5	DNAH11	R	1320	C	R1320C	Benign	0	1	5	198
MUT:DNAH11:Arg1320Gly	PROT:Q96DT5	DNAH11	R	1320	G	R1320G	Benign	0	1	5	198
MUT:DNAH11:Arg1349Thr	PROT:Q96DT5	DNAH11	R	1349	T	R1349T	Likely benign	0	1	5	227
MUT:DNAH11:Arg1375Gly	PROT:Q96DT5	DNAH11	R	1375	G	R1375G	Likely benign	0	1	5	253
MUT:DNAH11:Arg1375His	PROT:Q96DT5	DNAH11	R	1375	H	R1375H	Benign/Likely benign	0	1	5	253
MUT:DNAH11:Arg1436Gln	PROT:Q96DT5	DNAH11	R	1436	Q	R1436Q	Benign	0	1	5	314
MUT:DNAH11:Arg1436Gly	PROT:Q96DT5	DNAH11	R	1436	G	R1436G	Likely benign	0	1	5	314
MUT:DNAH11:Arg1436Trp	PROT:Q96DT5	DNAH11	R	1436	W	R1436W	Benign/Likely benign	0	1	5	314
MUT:DNAH11:Arg1480Gln	PROT:Q96DT5	DNAH11	R	1480	Q	R1480Q	Benign	0	1	5	358
MUT:DNAH11:Arg1541Gln	PROT:Q96DT5	DNAH11	R	1541	Q	R1541Q	Benign	0	1	5	419
MUT:DNAH11:Arg1715Pro	PROT:Q96DT5	DNAH11	R	1715	P	R1715P	Likely benign	0	1	5	593
MUT:DNAH11:Arg1760Lys	PROT:Q96DT5	DNAH11	R	1760	K	R1760K	Likely benign	0	1	5	638
MUT:DNAH11:Arg1810Lys	PROT:Q96DT5	DNAH11	R	1810	K	R1810K	Likely benign	0	1	5	688
MUT:DNAH11:Arg1836Gln	PROT:Q96DT5	DNAH11	R	1836	Q	R1836Q	Benign	0	1	5	714
MUT:DNAH11:Arg1836Gly	PROT:Q96DT5	DNAH11	R	1836	G	R1836G	Likely benign	0	1	5	714
MUT:DNAH11:Arg1908Cys	PROT:Q96DT5	DNAH11	R	1908	C	R1908C	Benign	0	1	5	786
MUT:DNAH11:Arg1908His	PROT:Q96DT5	DNAH11	R	1908	H	R1908H	Benign	0	1	5	786
MUT:DNAH11:Arg1972Lys	PROT:Q96DT5	DNAH11	R	1972	K	R1972K	Benign	0	1	5	850
MUT:DNAH11:Arg2040Pro	PROT:Q96DT5	DNAH11	R	2040	P	R2040P	Benign	0	1	5	918
MUT:DNAH11:Arg2068His	PROT:Q96DT5	DNAH11	R	2068	H	R2068H	Benign	0	1	5	918
MUT:DNAH11:Arg2082Gln	PROT:Q96DT5	DNAH11	R	2082	Q	R2082Q	Benign	0	1	5	904
MUT:DNAH11:Arg2095Gly	PROT:Q96DT5	DNAH11	R	2095	G	R2095G	Likely benign	0	1	5	891
MUT:DNAH11:Arg2128Gly	PROT:Q96DT5	DNAH11	R	2128	G	R2128G	Benign	0	1	5	858
MUT:DNAH11:Arg2128Trp	PROT:Q96DT5	DNAH11	R	2128	W	R2128W	Likely benign	0	1	5	858
MUT:DNAH11:Arg2139Lys	PROT:Q96DT5	DNAH11	R	2139	K	R2139K	Benign/Likely benign	0	1	5	847
MUT:DNAH11:Arg2222Gln	PROT:Q96DT5	DNAH11	R	2222	Q	R2222Q	Benign	0	1	5	764
MUT:DNAH11:Arg2243Gln	PROT:Q96DT5	DNAH11	R	2243	Q	R2243Q	Likely benign	0	1	5	743
MUT:DNAH11:Arg2287His	PROT:Q96DT5	DNAH11	R	2287	H	R2287H	Likely benign	0	1	5	699
MUT:DNAH11:Arg2304Lys	PROT:Q96DT5	DNAH11	R	2304	K	R2304K	Likely benign	0	1	5	682
MUT:DNAH11:Arg2338Gln	PROT:Q96DT5	DNAH11	R	2338	Q	R2338Q	Likely benign	0	1	5	648
MUT:DNAH11:Arg2338Trp	PROT:Q96DT5	DNAH11	R	2338	W	R2338W	Benign	0	1	5	648
MUT:DNAH11:Arg2362Thr	PROT:Q96DT5	DNAH11	R	2362	T	R2362T	Likely benign	0	1	5	624
MUT:DNAH11:Arg2535Cys	PROT:Q96DT5	DNAH11	R	2535	C	R2535C	Likely benign	0	1	5	451
MUT:DNAH11:Arg260Gly	PROT:Q96DT5	DNAH11	R	260	G	R260G	Benign	0	1	5	189
MUT:DNAH11:Arg265Pro	PROT:Q96DT5	DNAH11	R	265	P	R265P	Benign	0	1	5	184
MUT:DNAH11:Arg2677Gly	PROT:Q96DT5	DNAH11	R	2677	G	R2677G	Likely benign	0	1	5	309
MUT:DNAH11:Arg2744His	PROT:Q96DT5	DNAH11	R	2744	H	R2744H	Likely benign	0	1	5	242
MUT:DNAH11:Arg2792Gly	PROT:Q96DT5	DNAH11	R	2792	G	R2792G	Likely benign	0	1	5	194
MUT:DNAH11:Arg2842Gln	PROT:Q96DT5	DNAH11	R	2842	Q	R2842Q	Likely pathogenic	1	1	5	144
MUT:DNAH11:Arg2845Gln	PROT:Q96DT5	DNAH11	R	2845	Q	R2845Q	Benign	0	1	5	141
MUT:DNAH11:Arg284Met	PROT:Q96DT5	DNAH11	R	284	M	R284M	Likely benign	0	1	5	165
MUT:DNAH11:Arg284Ser	PROT:Q96DT5	DNAH11	R	284	S	R284S	Likely benign	0	1	5	165
MUT:DNAH11:Arg2872Cys	PROT:Q96DT5	DNAH11	R	2872	C	R2872C	Likely benign	0	1	5	114
MUT:DNAH11:Arg2872His	PROT:Q96DT5	DNAH11	R	2872	H	R2872H	Benign	0	1	5	114
MUT:DNAH11:Arg2976Gln	PROT:Q96DT5	DNAH11	R	2976	Q	R2976Q	Benign	0	1	5	10
MUT:DNAH11:Arg2990Gly	PROT:Q96DT5	DNAH11	R	2990	G	R2990G	Likely benign	0	1	5	4
MUT:DNAH11:Arg2990His	PROT:Q96DT5	DNAH11	R	2990	H	R2990H	Benign/Likely benign	0	2	5	4
MUT:DNAH11:Arg2997Trp	PROT:Q96DT5	DNAH11	R	2997	W	R2997W	Benign	0	1	5	11
MUT:DNAH11:Arg3098His	PROT:Q96DT5	DNAH11	R	3098	H	R3098H	Likely benign	0	1	5	112
MUT:DNAH11:Arg3150Gln	PROT:Q96DT5	DNAH11	R	3150	Q	R3150Q	Benign/Likely benign	0	1	5	164
MUT:DNAH11:Arg3160Gln	PROT:Q96DT5	DNAH11	R	3160	Q	R3160Q	Benign	0	1	5	174
MUT:DNAH11:Arg3229Gln	PROT:Q96DT5	DNAH11	R	3229	Q	R3229Q	Benign	0	1	5	243
MUT:DNAH11:Arg3229Pro	PROT:Q96DT5	DNAH11	R	3229	P	R3229P	Likely benign	0	1	5	243
MUT:DNAH11:Arg3236Gln	PROT:Q96DT5	DNAH11	R	3236	Q	R3236Q	Benign	0	1	5	250
MUT:DNAH11:Arg3317His	PROT:Q96DT5	DNAH11	R	3317	H	R3317H	Likely benign	0	1	5	331
MUT:DNAH11:Arg3338Gly	PROT:Q96DT5	DNAH11	R	3338	G	R3338G	Benign	0	1	5	352
MUT:DNAH11:Arg3338Trp	PROT:Q96DT5	DNAH11	R	3338	W	R3338W	Likely benign	0	1	5	352
MUT:DNAH11:Arg3392His	PROT:Q96DT5	DNAH11	R	3392	H	R3392H	Likely benign	0	1	5	406
MUT:DNAH11:Arg3429His	PROT:Q96DT5	DNAH11	R	3429	H	R3429H	Likely pathogenic	1	1	5	443
MUT:DNAH11:Arg3491Cys	PROT:Q96DT5	DNAH11	R	3491	C	R3491C	Benign	0	1	5	416
MUT:DNAH11:Arg3580Cys	PROT:Q96DT5	DNAH11	R	3580	C	R3580C	Likely benign	0	1	5	327
MUT:DNAH11:Arg3580His	PROT:Q96DT5	DNAH11	R	3580	H	R3580H	Benign/Likely benign	0	2	5	327
MUT:DNAH11:Arg358Cys	PROT:Q96DT5	DNAH11	R	358	C	R358C	Benign	0	1	5	91
MUT:DNAH11:Arg358Gly	PROT:Q96DT5	DNAH11	R	358	G	R358G	Likely benign	0	1	5	91
MUT:DNAH11:Arg358His	PROT:Q96DT5	DNAH11	R	358	H	R358H	Likely benign	0	1	5	91
MUT:DNAH11:Arg358Leu	PROT:Q96DT5	DNAH11	R	358	L	R358L	Likely benign	0	1	5	91
MUT:DNAH11:Arg383Gln	PROT:Q96DT5	DNAH11	R	383	Q	R383Q	Benign	0	2	5	66
MUT:DNAH11:Arg4007Thr	PROT:Q96DT5	DNAH11	R	4007	T	R4007T	Likely benign	0	1	5	100
MUT:DNAH11:Arg4017Lys	PROT:Q96DT5	DNAH11	R	4017	K	R4017K	Benign	0	1	5	110
MUT:DNAH11:Arg4096Ser	PROT:Q96DT5	DNAH11	R	4096	S	R4096S	Benign	0	1	5	189
MUT:DNAH11:Arg4104Gln	PROT:Q96DT5	DNAH11	R	4104	Q	R4104Q	Benign	0	1	5	197
MUT:DNAH11:Arg4158Gln	PROT:Q96DT5	DNAH11	R	4158	Q	R4158Q	Likely benign	0	2	5	251
MUT:DNAH11:Arg4359Gln	PROT:Q96DT5	DNAH11	R	4359	Q	R4359Q	Benign/Likely benign	0	1	5	452
MUT:DNAH11:Arg4359Gly	PROT:Q96DT5	DNAH11	R	4359	G	R4359G	Benign	0	1	5	452
MUT:DNAH11:Arg4395Leu	PROT:Q96DT5	DNAH11	R	4395	L	R4395L	Likely benign	0	1	5	488
MUT:DNAH11:Arg4469Lys	PROT:Q96DT5	DNAH11	R	4469	K	R4469K	Likely benign	0	2	5	562
MUT:DNAH11:Arg448Gly	PROT:Q96DT5	DNAH11	R	448	G	R448G	Benign	0	1	5	1
MUT:DNAH11:Arg470His	PROT:Q96DT5	DNAH11	R	470	H	R470H	Benign	0	1	5	21
MUT:DNAH11:Arg49Lys	PROT:Q96DT5	DNAH11	R	49	K	R49K	Benign	0	1	5	400
MUT:DNAH11:Arg51Gln	PROT:Q96DT5	DNAH11	R	51	Q	R51Q	Benign	0	1	5	398
MUT:DNAH11:Arg550Ser	PROT:Q96DT5	DNAH11	R	550	S	R550S	Likely benign	0	1	5	101
MUT:DNAH11:Arg60Cys	PROT:Q96DT5	DNAH11	R	60	C	R60C	Benign	0	1	5	389
MUT:DNAH11:Arg644Gln	PROT:Q96DT5	DNAH11	R	644	Q	R644Q	Benign	0	1	5	195
MUT:DNAH11:Arg656Pro	PROT:Q96DT5	DNAH11	R	656	P	R656P	Benign	0	1	5	207
MUT:DNAH11:Arg685His	PROT:Q96DT5	DNAH11	R	685	H	R685H	Benign	0	1	5	236
MUT:DNAH11:Arg829Cys	PROT:Q96DT5	DNAH11	R	829	C	R829C	Likely benign	0	1	5	290
MUT:DNAH11:Arg8Leu	PROT:Q96DT5	DNAH11	R	8	L	R8L	Benign	0	1	5	441
MUT:DNAH11:Asn1025Ser	PROT:Q96DT5	DNAH11	N	1025	S	N1025S	Benign/Likely benign	0	1	5	94
MUT:DNAH11:Asn1144Ile	PROT:Q96DT5	DNAH11	N	1144	I	N1144I	Likely benign	0	1	5	22
MUT:DNAH11:Asn1144Ser	PROT:Q96DT5	DNAH11	N	1144	S	N1144S	Benign	0	1	5	22
MUT:DNAH11:Asn1499Asp	PROT:Q96DT5	DNAH11	N	1499	D	N1499D	Likely benign	0	1	5	377
MUT:DNAH11:Asn1527Ser	PROT:Q96DT5	DNAH11	N	1527	S	N1527S	Likely benign	0	1	5	405
MUT:DNAH11:Asn1595Thr	PROT:Q96DT5	DNAH11	N	1595	T	N1595T	Benign	0	1	5	473
MUT:DNAH11:Asn1668Ser	PROT:Q96DT5	DNAH11	N	1668	S	N1668S	Benign	0	1	5	546
MUT:DNAH11:Asn176Asp	PROT:Q96DT5	DNAH11	N	176	D	N176D	Benign	0	1	5	273
MUT:DNAH11:Asn1862Asp	PROT:Q96DT5	DNAH11	N	1862	D	N1862D	Likely benign	0	1	5	740
MUT:DNAH11:Asn1948Ser	PROT:Q96DT5	DNAH11	N	1948	S	N1948S	Likely benign	0	1	5	826
MUT:DNAH11:Asn2101Lys	PROT:Q96DT5	DNAH11	N	2101	K	N2101K	Likely benign	0	1	5	885
MUT:DNAH11:Asn2193His	PROT:Q96DT5	DNAH11	N	2193	H	N2193H	Likely benign	0	1	5	793
MUT:DNAH11:Asn2201Lys	PROT:Q96DT5	DNAH11	N	2201	K	N2201K	Benign	0	1	5	785
MUT:DNAH11:Asn2204Ser	PROT:Q96DT5	DNAH11	N	2204	S	N2204S	Likely benign	0	1	5	782
MUT:DNAH11:Asn2285Ser	PROT:Q96DT5	DNAH11	N	2285	S	N2285S	Benign	0	1	5	701
MUT:DNAH11:Asn2617Ser	PROT:Q96DT5	DNAH11	N	2617	S	N2617S	Likely benign	0	1	5	369
MUT:DNAH11:Asn2634Ile	PROT:Q96DT5	DNAH11	N	2634	I	N2634I	Benign	0	1	5	352
MUT:DNAH11:Asn2634Ser	PROT:Q96DT5	DNAH11	N	2634	S	N2634S	Benign	0	2	5	352
MUT:DNAH11:Asn2715Tyr	PROT:Q96DT5	DNAH11	N	2715	Y	N2715Y	Likely benign	0	1	5	271
MUT:DNAH11:Asn2896Ser	PROT:Q96DT5	DNAH11	N	2896	S	N2896S	Likely benign	0	1	5	90
MUT:DNAH11:Asn3090Ser	PROT:Q96DT5	DNAH11	N	3090	S	N3090S	Likely benign	0	1	5	104
MUT:DNAH11:Asn3131Ser	PROT:Q96DT5	DNAH11	N	3131	S	N3131S	Benign	0	1	5	145
MUT:DNAH11:Asn3195Ser	PROT:Q96DT5	DNAH11	N	3195	S	N3195S	Benign	0	1	5	209
MUT:DNAH11:Asn3210Ser	PROT:Q96DT5	DNAH11	N	3210	S	N3210S	Likely benign	0	1	5	224
MUT:DNAH11:Asn3210Thr	PROT:Q96DT5	DNAH11	N	3210	T	N3210T	Likely benign	0	1	5	224
MUT:DNAH11:Asn3217Ser	PROT:Q96DT5	DNAH11	N	3217	S	N3217S	Benign	0	1	5	231
MUT:DNAH11:Asn3373Ser	PROT:Q96DT5	DNAH11	N	3373	S	N3373S	Benign	0	1	5	387
MUT:DNAH11:Asn3469Ser	PROT:Q96DT5	DNAH11	N	3469	S	N3469S	Benign	0	1	5	438
MUT:DNAH11:Asn3589Tyr	PROT:Q96DT5	DNAH11	N	3589	Y	N3589Y	Likely benign	0	1	5	318
MUT:DNAH11:Asn3720Tyr	PROT:Q96DT5	DNAH11	N	3720	Y	N3720Y	Benign	0	1	5	187
MUT:DNAH11:Asn4122Ser	PROT:Q96DT5	DNAH11	N	4122	S	N4122S	Benign	0	1	5	215
MUT:DNAH11:Asn4253Asp	PROT:Q96DT5	DNAH11	N	4253	D	N4253D	Likely benign	0	1	5	346
MUT:DNAH11:Asn4275Lys	PROT:Q96DT5	DNAH11	N	4275	K	N4275K	Benign	0	1	5	368
MUT:DNAH11:Asn4277Asp	PROT:Q96DT5	DNAH11	N	4277	D	N4277D	Benign	0	1	5	370
MUT:DNAH11:Asn4277Ser	PROT:Q96DT5	DNAH11	N	4277	S	N4277S	Likely benign	0	1	5	370
MUT:DNAH11:Asn4352Ser	PROT:Q96DT5	DNAH11	N	4352	S	N4352S	Likely benign	0	1	5	445
MUT:DNAH11:Asn501Lys	PROT:Q96DT5	DNAH11	N	501	K	N501K	Likely benign	0	1	5	52
MUT:DNAH11:Asn501Ser	PROT:Q96DT5	DNAH11	N	501	S	N501S	Benign	0	1	5	52
MUT:DNAH11:Asn563Tyr	PROT:Q96DT5	DNAH11	N	563	Y	N563Y	Likely benign	0	1	5	114
MUT:DNAH11:Asn577Ser	PROT:Q96DT5	DNAH11	N	577	S	N577S	Benign	0	1	5	128
MUT:DNAH11:Asn771Lys	PROT:Q96DT5	DNAH11	N	771	K	N771K	Likely benign	0	1	5	322
MUT:DNAH11:Asn886Asp	PROT:Q96DT5	DNAH11	N	886	D	N886D	Benign	0	1	5	233
MUT:DNAH11:Asn886Ser	PROT:Q96DT5	DNAH11	N	886	S	N886S	Benign/Likely benign	0	1	5	233
MUT:DNAH11:Asn886Thr	PROT:Q96DT5	DNAH11	N	886	T	N886T	Benign	0	1	5	233
MUT:DNAH11:Asn891Asp	PROT:Q96DT5	DNAH11	N	891	D	N891D	Pathogenic	1	1	5	228
MUT:DNAH11:Asn979Ser	PROT:Q96DT5	DNAH11	N	979	S	N979S	Benign	0	1	5	140
MUT:DNAH11:Asp1043Gly	PROT:Q96DT5	DNAH11	D	1043	G	D1043G	Likely benign	0	1	5	76
MUT:DNAH11:Asp1062Asn	PROT:Q96DT5	DNAH11	D	1062	N	D1062N	Benign	0	1	5	57
MUT:DNAH11:Asp1062Tyr	PROT:Q96DT5	DNAH11	D	1062	Y	D1062Y	Benign/Likely benign	0	1	5	57
MUT:DNAH11:Asp1101Glu	PROT:Q96DT5	DNAH11	D	1101	E	D1101E	Benign	0	1	5	18
MUT:DNAH11:Asp1154Gly	PROT:Q96DT5	DNAH11	D	1154	G	D1154G	Likely benign	0	1	5	32
MUT:DNAH11:Asp1167Gly	PROT:Q96DT5	DNAH11	D	1167	G	D1167G	Likely benign	0	1	5	45
MUT:DNAH11:Asp12Glu	PROT:Q96DT5	DNAH11	D	12	E	D12E	Benign	0	1	5	437
MUT:DNAH11:Asp1331Asn	PROT:Q96DT5	DNAH11	D	1331	N	D1331N	Benign	0	1	5	209
MUT:DNAH11:Asp1378Gly	PROT:Q96DT5	DNAH11	D	1378	G	D1378G	Likely benign	0	1	5	256
MUT:DNAH11:Asp1407Gly	PROT:Q96DT5	DNAH11	D	1407	G	D1407G	Benign	0	1	5	285
MUT:DNAH11:Asp141Tyr	PROT:Q96DT5	DNAH11	D	141	Y	D141Y	Benign/Likely benign	0	2	5	308
MUT:DNAH11:Asp1431His	PROT:Q96DT5	DNAH11	D	1431	H	D1431H	Benign	0	1	5	309
MUT:DNAH11:Asp1442Asn	PROT:Q96DT5	DNAH11	D	1442	N	D1442N	Benign	0	1	5	320
MUT:DNAH11:Asp1449His	PROT:Q96DT5	DNAH11	D	1449	H	D1449H	Benign	0	1	5	327
MUT:DNAH11:Asp1489Val	PROT:Q96DT5	DNAH11	D	1489	V	D1489V	Likely benign	0	1	5	367
MUT:DNAH11:Asp1555Gly	PROT:Q96DT5	DNAH11	D	1555	G	D1555G	Likely benign	0	1	5	433
MUT:DNAH11:Asp1563Gly	PROT:Q96DT5	DNAH11	D	1563	G	D1563G	Likely benign	0	1	5	441
MUT:DNAH11:Asp1568Val	PROT:Q96DT5	DNAH11	D	1568	V	D1568V	Benign	0	1	5	446
MUT:DNAH11:Asp1635Gly	PROT:Q96DT5	DNAH11	D	1635	G	D1635G	Benign/Likely benign	0	1	5	513
MUT:DNAH11:Asp1638His	PROT:Q96DT5	DNAH11	D	1638	H	D1638H	Likely benign	0	1	5	516
MUT:DNAH11:Asp164Gly	PROT:Q96DT5	DNAH11	D	164	G	D164G	Likely benign	0	1	5	285
MUT:DNAH11:Asp164Val	PROT:Q96DT5	DNAH11	D	164	V	D164V	Likely benign	0	1	5	285
MUT:DNAH11:Asp1670Gly	PROT:Q96DT5	DNAH11	D	1670	G	D1670G	Likely benign	0	1	5	548
MUT:DNAH11:Asp1736Tyr	PROT:Q96DT5	DNAH11	D	1736	Y	D1736Y	Likely benign	0	1	5	614
MUT:DNAH11:Asp1795Glu	PROT:Q96DT5	DNAH11	D	1795	E	D1795E	Likely benign	0	1	5	673
MUT:DNAH11:Asp1839Asn	PROT:Q96DT5	DNAH11	D	1839	N	D1839N	Benign	0	1	5	717
MUT:DNAH11:Asp187Gly	PROT:Q96DT5	DNAH11	D	187	G	D187G	Likely benign	0	1	5	262
MUT:DNAH11:Asp2084His	PROT:Q96DT5	DNAH11	D	2084	H	D2084H	Likely benign	0	1	5	902
MUT:DNAH11:Asp2109Asn	PROT:Q96DT5	DNAH11	D	2109	N	D2109N	Likely benign	0	1	5	877
MUT:DNAH11:Asp2119Asn	PROT:Q96DT5	DNAH11	D	2119	N	D2119N	Benign	0	1	5	867
MUT:DNAH11:Asp2125Gly	PROT:Q96DT5	DNAH11	D	2125	G	D2125G	Benign	0	1	5	861
MUT:DNAH11:Asp2261Asn	PROT:Q96DT5	DNAH11	D	2261	N	D2261N	Likely benign	0	1	5	725
MUT:DNAH11:Asp2261His	PROT:Q96DT5	DNAH11	D	2261	H	D2261H	Likely benign	0	1	5	725
MUT:DNAH11:Asp2351Gly	PROT:Q96DT5	DNAH11	D	2351	G	D2351G	Benign	0	1	5	635
MUT:DNAH11:Asp2476Glu	PROT:Q96DT5	DNAH11	D	2476	E	D2476E	Benign	0	1	5	510
MUT:DNAH11:Asp2530Asn	PROT:Q96DT5	DNAH11	D	2530	N	D2530N	Benign	0	1	5	456
MUT:DNAH11:Asp2530Gly	PROT:Q96DT5	DNAH11	D	2530	G	D2530G	Likely benign	0	1	5	456
MUT:DNAH11:Asp2576Gly	PROT:Q96DT5	DNAH11	D	2576	G	D2576G	Pathogenic	1	1	5	410
MUT:DNAH11:Asp2791Asn	PROT:Q96DT5	DNAH11	D	2791	N	D2791N	Likely benign	0	1	5	195
MUT:DNAH11:Asp2928Tyr	PROT:Q96DT5	DNAH11	D	2928	Y	D2928Y	Benign	0	1	5	58
MUT:DNAH11:Asp2941Gly	PROT:Q96DT5	DNAH11	D	2941	G	D2941G	Benign	0	1	5	45
MUT:DNAH11:Asp2943His	PROT:Q96DT5	DNAH11	D	2943	H	D2943H	Likely benign	0	1	5	43
MUT:DNAH11:Asp3345Glu	PROT:Q96DT5	DNAH11	D	3345	E	D3345E	Likely benign	0	1	5	359
MUT:DNAH11:Asp3610Gly	PROT:Q96DT5	DNAH11	D	3610	G	D3610G	Likely benign	0	1	5	297
MUT:DNAH11:Asp3610Val	PROT:Q96DT5	DNAH11	D	3610	V	D3610V	Benign	0	1	5	297
MUT:DNAH11:Asp3752Ala	PROT:Q96DT5	DNAH11	D	3752	A	D3752A	Benign	0	1	5	155
MUT:DNAH11:Asp3800Gly	PROT:Q96DT5	DNAH11	D	3800	G	D3800G	Likely benign	0	1	5	107
MUT:DNAH11:Asp3846Glu	PROT:Q96DT5	DNAH11	D	3846	E	D3846E	Benign	0	1	5	61
MUT:DNAH11:Asp407Tyr	PROT:Q96DT5	DNAH11	D	407	Y	D407Y	Likely benign	0	1	5	42
MUT:DNAH11:Asp4112His	PROT:Q96DT5	DNAH11	D	4112	H	D4112H	Likely benign	0	1	5	205
MUT:DNAH11:Asp4187Glu	PROT:Q96DT5	DNAH11	D	4187	E	D4187E	Benign/Likely benign	0	6	5	280
MUT:DNAH11:Asp4256Asn	PROT:Q96DT5	DNAH11	D	4256	N	D4256N	Benign	0	1	5	349
MUT:DNAH11:Asp4362Asn	PROT:Q96DT5	DNAH11	D	4362	N	D4362N	Benign	0	1	5	455
MUT:DNAH11:Asp4362His	PROT:Q96DT5	DNAH11	D	4362	H	D4362H	Benign	0	1	5	455
MUT:DNAH11:Asp4367Gly	PROT:Q96DT5	DNAH11	D	4367	G	D4367G	Benign	0	1	5	460
MUT:DNAH11:Asp4402Glu	PROT:Q96DT5	DNAH11	D	4402	E	D4402E	Likely benign	0	1	5	495
MUT:DNAH11:Asp524Glu	PROT:Q96DT5	DNAH11	D	524	E	D524E	Likely benign	0	1	5	75
MUT:DNAH11:Asp695Gly	PROT:Q96DT5	DNAH11	D	695	G	D695G	Benign	0	1	5	246
MUT:DNAH11:Asp764Glu	PROT:Q96DT5	DNAH11	D	764	E	D764E	Likely benign	0	1	5	315
MUT:DNAH11:Asp807His	PROT:Q96DT5	DNAH11	D	807	H	D807H	Likely benign	0	1	5	312
MUT:DNAH11:Asp865His	PROT:Q96DT5	DNAH11	D	865	H	D865H	Likely benign	0	1	5	254
MUT:DNAH11:Asp926Asn	PROT:Q96DT5	DNAH11	D	926	N	D926N	Likely benign	0	1	5	193
MUT:DNAH11:Asp971Gly	PROT:Q96DT5	DNAH11	D	971	G	D971G	Benign	0	1	5	148
MUT:DNAH11:Cys101Ser	PROT:Q96DT5	DNAH11	C	101	S	C101S	Likely benign	0	2	5	348
MUT:DNAH11:Cys1251Arg	PROT:Q96DT5	DNAH11	C	1251	R	C1251R	Benign	0	1	5	129
MUT:DNAH11:Cys1693Ser	PROT:Q96DT5	DNAH11	C	1693	S	C1693S	Likely benign	0	1	5	571
MUT:DNAH11:Cys1803Phe	PROT:Q96DT5	DNAH11	C	1803	F	C1803F	Benign	0	1	5	681
MUT:DNAH11:Cys227Ser	PROT:Q96DT5	DNAH11	C	227	S	C227S	Likely benign	0	1	5	222
MUT:DNAH11:Cys2756Arg	PROT:Q96DT5	DNAH11	C	2756	R	C2756R	Benign	0	1	5	230
MUT:DNAH11:Cys3005Arg	PROT:Q96DT5	DNAH11	C	3005	R	C3005R	Benign	0	1	5	19
MUT:DNAH11:Cys3005Ser	PROT:Q96DT5	DNAH11	C	3005	S	C3005S	Likely benign	0	1	5	19
MUT:DNAH11:Cys3365Tyr	PROT:Q96DT5	DNAH11	C	3365	Y	C3365Y	Likely benign	0	1	5	379
MUT:DNAH11:Cys3408Arg	PROT:Q96DT5	DNAH11	C	3408	R	C3408R	Benign	0	1	5	422
MUT:DNAH11:Cys3704Arg	PROT:Q96DT5	DNAH11	C	3704	R	C3704R	Benign	0	1	5	203
MUT:DNAH11:Cys4090Phe	PROT:Q96DT5	DNAH11	C	4090	F	C4090F	Likely benign	0	1	5	183
MUT:DNAH11:Cys462Arg	PROT:Q96DT5	DNAH11	C	462	R	C462R	Likely benign	0	1	5	13
MUT:DNAH11:Cys515Arg	PROT:Q96DT5	DNAH11	C	515	R	C515R	Benign	0	1	5	66
MUT:DNAH11:Cys528Phe	PROT:Q96DT5	DNAH11	C	528	F	C528F	Likely benign	0	1	5	79
MUT:DNAH11:Cys606Tyr	PROT:Q96DT5	DNAH11	C	606	Y	C606Y	Likely benign	0	1	5	157
MUT:DNAH11:Cys619Phe	PROT:Q96DT5	DNAH11	C	619	F	C619F	Benign	0	1	5	170
MUT:DNAH11:Cys809Tyr	PROT:Q96DT5	DNAH11	C	809	Y	C809Y	Benign	0	1	5	310
MUT:DNAH11:Cys847Phe	PROT:Q96DT5	DNAH11	C	847	F	C847F	Likely benign	0	1	5	272
MUT:DNAH11:Cys847Tyr	PROT:Q96DT5	DNAH11	C	847	Y	C847Y	Likely benign	0	1	5	272
MUT:DNAH11:Gln1147Arg	PROT:Q96DT5	DNAH11	Q	1147	R	Q1147R	Benign	0	1	5	25
MUT:DNAH11:Gln1158Glu	PROT:Q96DT5	DNAH11	Q	1158	E	Q1158E	Likely benign	0	1	5	36
MUT:DNAH11:Gln1298Arg	PROT:Q96DT5	DNAH11	Q	1298	R	Q1298R	Benign	0	1	5	176
MUT:DNAH11:Gln1298Glu	PROT:Q96DT5	DNAH11	Q	1298	E	Q1298E	Benign	0	1	5	176
MUT:DNAH11:Gln1300Glu	PROT:Q96DT5	DNAH11	Q	1300	E	Q1300E	Benign	0	1	5	178
MUT:DNAH11:Gln1401Arg	PROT:Q96DT5	DNAH11	Q	1401	R	Q1401R	Benign/Likely benign	0	1	5	279
MUT:DNAH11:Gln1508Lys	PROT:Q96DT5	DNAH11	Q	1508	K	Q1508K	Likely benign	0	1	5	386
MUT:DNAH11:Gln1518Glu	PROT:Q96DT5	DNAH11	Q	1518	E	Q1518E	Benign	0	1	5	396
MUT:DNAH11:Gln1711Arg	PROT:Q96DT5	DNAH11	Q	1711	R	Q1711R	Benign/Likely benign	0	2	5	589
MUT:DNAH11:Gln1797Arg	PROT:Q96DT5	DNAH11	Q	1797	R	Q1797R	Likely benign	0	1	5	675
MUT:DNAH11:Gln2470Glu	PROT:Q96DT5	DNAH11	Q	2470	E	Q2470E	Likely benign	0	1	5	516
MUT:DNAH11:Gln2638His	PROT:Q96DT5	DNAH11	Q	2638	H	Q2638H	Pathogenic/Likely pathogenic	1	2	5	348
MUT:DNAH11:Gln264Lys	PROT:Q96DT5	DNAH11	Q	264	K	Q264K	Likely benign	0	1	5	185
MUT:DNAH11:Gln2781His	PROT:Q96DT5	DNAH11	Q	2781	H	Q2781H	Likely benign	0	1	5	205
MUT:DNAH11:Gln3089Arg	PROT:Q96DT5	DNAH11	Q	3089	R	Q3089R	Likely benign	0	1	5	103
MUT:DNAH11:Gln3144Glu	PROT:Q96DT5	DNAH11	Q	3144	E	Q3144E	Benign	0	1	5	158
MUT:DNAH11:Gln3166Arg	PROT:Q96DT5	DNAH11	Q	3166	R	Q3166R	Benign/Likely benign	0	1	5	180
MUT:DNAH11:Gln3171Arg	PROT:Q96DT5	DNAH11	Q	3171	R	Q3171R	Likely benign	0	1	5	185
MUT:DNAH11:Gln333His	PROT:Q96DT5	DNAH11	Q	333	H	Q333H	Likely benign	0	1	5	116
MUT:DNAH11:Gln333Lys	PROT:Q96DT5	DNAH11	Q	333	K	Q333K	Likely benign	0	1	5	116
MUT:DNAH11:Gln3371Glu	PROT:Q96DT5	DNAH11	Q	3371	E	Q3371E	Benign	0	1	5	385
MUT:DNAH11:Gln3395Lys	PROT:Q96DT5	DNAH11	Q	3395	K	Q3395K	Likely benign	0	1	5	409
MUT:DNAH11:Gln3427Pro	PROT:Q96DT5	DNAH11	Q	3427	P	Q3427P	Benign	0	1	5	441
MUT:DNAH11:Gln3430Arg	PROT:Q96DT5	DNAH11	Q	3430	R	Q3430R	Likely benign	0	1	5	444
MUT:DNAH11:Gln3501Leu	PROT:Q96DT5	DNAH11	Q	3501	L	Q3501L	Likely benign	0	1	5	406
MUT:DNAH11:Gln3599His	PROT:Q96DT5	DNAH11	Q	3599	H	Q3599H	Likely benign	0	1	5	308
MUT:DNAH11:Gln3879Pro	PROT:Q96DT5	DNAH11	Q	3879	P	Q3879P	Likely benign	0	1	5	28
MUT:DNAH11:Gln389Glu	PROT:Q96DT5	DNAH11	Q	389	E	Q389E	Likely benign	0	1	5	60
MUT:DNAH11:Gln3966Leu	PROT:Q96DT5	DNAH11	Q	3966	L	Q3966L	Likely benign	0	1	5	59
MUT:DNAH11:Gln421His	PROT:Q96DT5	DNAH11	Q	421	H	Q421H	Benign	0	1	5	28
MUT:DNAH11:Gln4245His	PROT:Q96DT5	DNAH11	Q	4245	H	Q4245H	Likely benign	0	1	5	338
MUT:DNAH11:Gln4349Arg	PROT:Q96DT5	DNAH11	Q	4349	R	Q4349R	Benign	0	1	5	442
MUT:DNAH11:Gln4366Glu	PROT:Q96DT5	DNAH11	Q	4366	E	Q4366E	Benign	0	1	5	459
MUT:DNAH11:Gln639Arg	PROT:Q96DT5	DNAH11	Q	639	R	Q639R	Benign/Likely benign	0	2	5	190
MUT:DNAH11:Gln639His	PROT:Q96DT5	DNAH11	Q	639	H	Q639H	Likely benign	0	1	5	190
MUT:DNAH11:Gln646Leu	PROT:Q96DT5	DNAH11	Q	646	L	Q646L	Likely benign	0	1	5	197
MUT:DNAH11:Gln704His	PROT:Q96DT5	DNAH11	Q	704	H	Q704H	Likely benign	0	1	5	255
MUT:DNAH11:Gln88Arg	PROT:Q96DT5	DNAH11	Q	88	R	Q88R	Likely benign	0	1	5	361
MUT:DNAH11:Gln986Arg	PROT:Q96DT5	DNAH11	Q	986	R	Q986R	Benign	0	1	5	133
MUT:DNAH11:Glu1015Asp	PROT:Q96DT5	DNAH11	E	1015	D	E1015D	Benign/Likely benign	0	2	5	104
MUT:DNAH11:Glu1063Lys	PROT:Q96DT5	DNAH11	E	1063	K	E1063K	Likely benign	0	1	5	56
MUT:DNAH11:Glu1148Lys	PROT:Q96DT5	DNAH11	E	1148	K	E1148K	Likely benign	0	1	5	26
MUT:DNAH11:Glu1163Gly	PROT:Q96DT5	DNAH11	E	1163	G	E1163G	Likely benign	0	1	5	41
MUT:DNAH11:Glu1260Lys	PROT:Q96DT5	DNAH11	E	1260	K	E1260K	Benign	0	1	5	138
MUT:DNAH11:Glu1293Gly	PROT:Q96DT5	DNAH11	E	1293	G	E1293G	Benign	0	1	5	171
MUT:DNAH11:Glu1307Gln	PROT:Q96DT5	DNAH11	E	1307	Q	E1307Q	Likely benign	0	1	5	185
MUT:DNAH11:Glu1373Ala	PROT:Q96DT5	DNAH11	E	1373	A	E1373A	Likely benign	0	1	5	251
MUT:DNAH11:Glu1399Gly	PROT:Q96DT5	DNAH11	E	1399	G	E1399G	Likely benign	0	1	5	277
MUT:DNAH11:Glu1476Lys	PROT:Q96DT5	DNAH11	E	1476	K	E1476K	Likely benign	0	1	5	354
MUT:DNAH11:Glu15Val	PROT:Q96DT5	DNAH11	E	15	V	E15V	Likely benign	0	1	5	434
MUT:DNAH11:Glu1666Gly	PROT:Q96DT5	DNAH11	E	1666	G	E1666G	Likely benign	0	1	5	544
MUT:DNAH11:Glu1692Lys	PROT:Q96DT5	DNAH11	E	1692	K	E1692K	Likely benign	0	1	5	570
MUT:DNAH11:Glu1694Val	PROT:Q96DT5	DNAH11	E	1694	V	E1694V	Benign	0	1	5	572
MUT:DNAH11:Glu1700Ala	PROT:Q96DT5	DNAH11	E	1700	A	E1700A	Likely benign	0	1	5	578
MUT:DNAH11:Glu1726Lys	PROT:Q96DT5	DNAH11	E	1726	K	E1726K	Benign	0	1	5	604
MUT:DNAH11:Glu1838Gly	PROT:Q96DT5	DNAH11	E	1838	G	E1838G	Likely benign	0	1	5	716
MUT:DNAH11:Glu1901Ala	PROT:Q96DT5	DNAH11	E	1901	A	E1901A	Benign	0	1	5	779
MUT:DNAH11:Glu2004Lys	PROT:Q96DT5	DNAH11	E	2004	K	E2004K	Benign	0	1	5	882
MUT:DNAH11:Glu2144Gln	PROT:Q96DT5	DNAH11	E	2144	Q	E2144Q	Likely benign	0	1	5	842
MUT:DNAH11:Glu236Lys	PROT:Q96DT5	DNAH11	E	236	K	E236K	Likely benign	0	1	5	213
MUT:DNAH11:Glu2437Gln	PROT:Q96DT5	DNAH11	E	2437	Q	E2437Q	Likely benign	0	1	5	549
MUT:DNAH11:Glu2488Gln	PROT:Q96DT5	DNAH11	E	2488	Q	E2488Q	Benign	0	1	5	498
MUT:DNAH11:Glu2529Gln	PROT:Q96DT5	DNAH11	E	2529	Q	E2529Q	Likely benign	0	1	5	457
MUT:DNAH11:Glu2614Gln	PROT:Q96DT5	DNAH11	E	2614	Q	E2614Q	Likely benign	0	1	5	372
MUT:DNAH11:Glu3126Asp	PROT:Q96DT5	DNAH11	E	3126	D	E3126D	Likely benign	0	1	5	140
MUT:DNAH11:Glu3135Lys	PROT:Q96DT5	DNAH11	E	3135	K	E3135K	Likely benign	0	1	5	149
MUT:DNAH11:Glu3175Asp	PROT:Q96DT5	DNAH11	E	3175	D	E3175D	Likely benign	0	1	5	189
MUT:DNAH11:Glu3265Asp	PROT:Q96DT5	DNAH11	E	3265	D	E3265D	Benign/Likely benign	0	2	5	279
MUT:DNAH11:Glu3273Asp	PROT:Q96DT5	DNAH11	E	3273	D	E3273D	Likely benign	0	1	5	287
MUT:DNAH11:Glu3280Gln	PROT:Q96DT5	DNAH11	E	3280	Q	E3280Q	Likely benign	0	1	5	294
MUT:DNAH11:Glu3356Gly	PROT:Q96DT5	DNAH11	E	3356	G	E3356G	Likely benign	0	1	5	370
MUT:DNAH11:Glu3367Gln	PROT:Q96DT5	DNAH11	E	3367	Q	E3367Q	Benign	0	1	5	381
MUT:DNAH11:Glu3451Lys	PROT:Q96DT5	DNAH11	E	3451	K	E3451K	Benign	0	1	5	456
MUT:DNAH11:Glu3471Lys	PROT:Q96DT5	DNAH11	E	3471	K	E3471K	Benign/Likely benign	0	1	5	436
MUT:DNAH11:Glu34Leu	PROT:Q96DT5	DNAH11	E	34	L	E34L	Benign	0	2	5	415
MUT:DNAH11:Glu34Val	PROT:Q96DT5	DNAH11	E	34	V	E34V	Benign	0	2	5	415
MUT:DNAH11:Glu3544Lys	PROT:Q96DT5	DNAH11	E	3544	K	E3544K	Benign	0	1	5	363
MUT:DNAH11:Glu3572Ala	PROT:Q96DT5	DNAH11	E	3572	A	E3572A	Benign	0	1	5	335
MUT:DNAH11:Glu36Gln	PROT:Q96DT5	DNAH11	E	36	Q	E36Q	Benign	0	1	5	413
MUT:DNAH11:Glu36Gly	PROT:Q96DT5	DNAH11	E	36	G	E36G	Benign	0	1	5	413
MUT:DNAH11:Glu3700Lys	PROT:Q96DT5	DNAH11	E	3700	K	E3700K	Likely benign	0	1	5	207
MUT:DNAH11:Glu3703Gln	PROT:Q96DT5	DNAH11	E	3703	Q	E3703Q	Likely benign	0	1	5	204
MUT:DNAH11:Glu3745Lys	PROT:Q96DT5	DNAH11	E	3745	K	E3745K	Benign/Likely benign	0	2	5	162
MUT:DNAH11:Glu3762Gln	PROT:Q96DT5	DNAH11	E	3762	Q	E3762Q	Benign	0	1	5	145
MUT:DNAH11:Glu3813Gln	PROT:Q96DT5	DNAH11	E	3813	Q	E3813Q	Likely benign	0	1	5	94
MUT:DNAH11:Glu3861Lys	PROT:Q96DT5	DNAH11	E	3861	K	E3861K	Benign	0	1	5	46
MUT:DNAH11:Glu390Lys	PROT:Q96DT5	DNAH11	E	390	K	E390K	Likely benign	0	1	5	59
MUT:DNAH11:Glu3921Lys	PROT:Q96DT5	DNAH11	E	3921	K	E3921K	Benign	0	1	5	14
MUT:DNAH11:Glu3969Lys	PROT:Q96DT5	DNAH11	E	3969	K	E3969K	Likely benign	0	1	5	62
MUT:DNAH11:Glu4023Asp	PROT:Q96DT5	DNAH11	E	4023	D	E4023D	Likely benign	0	1	5	116
MUT:DNAH11:Glu4030Lys	PROT:Q96DT5	DNAH11	E	4030	K	E4030K	Benign	0	1	5	123
MUT:DNAH11:Glu4039Ala	PROT:Q96DT5	DNAH11	E	4039	A	E4039A	Likely benign	0	1	5	132
MUT:DNAH11:Glu4039Lys	PROT:Q96DT5	DNAH11	E	4039	K	E4039K	Benign	0	1	5	132
MUT:DNAH11:Glu4047Asp	PROT:Q96DT5	DNAH11	E	4047	D	E4047D	Likely benign	0	1	5	140
MUT:DNAH11:Glu4069Gln	PROT:Q96DT5	DNAH11	E	4069	Q	E4069Q	Benign	0	1	5	162
MUT:DNAH11:Glu414Gln	PROT:Q96DT5	DNAH11	E	414	Q	E414Q	Likely benign	0	1	5	35
MUT:DNAH11:Glu415Gln	PROT:Q96DT5	DNAH11	E	415	Q	E415Q	Benign	0	1	5	34
MUT:DNAH11:Glu4231Ala	PROT:Q96DT5	DNAH11	E	4231	A	E4231A	Likely benign	0	1	5	324
MUT:DNAH11:Glu4249Lys	PROT:Q96DT5	DNAH11	E	4249	K	E4249K	Benign	0	1	5	342
MUT:DNAH11:Glu4260Lys	PROT:Q96DT5	DNAH11	E	4260	K	E4260K	Likely benign	0	1	5	353
MUT:DNAH11:Glu4298Lys	PROT:Q96DT5	DNAH11	E	4298	K	E4298K	Likely benign	0	1	5	391
MUT:DNAH11:Glu4424Asp	PROT:Q96DT5	DNAH11	E	4424	D	E4424D	Benign	0	1	5	517
MUT:DNAH11:Glu4499Lys	PROT:Q96DT5	DNAH11	E	4499	K	E4499K	Benign/Likely benign	0	2	5	592
MUT:DNAH11:Glu44Ala	PROT:Q96DT5	DNAH11	E	44	A	E44A	Benign	0	1	5	405
MUT:DNAH11:Glu506Gln	PROT:Q96DT5	DNAH11	E	506	Q	E506Q	Benign	0	1	5	57
MUT:DNAH11:Glu506Lys	PROT:Q96DT5	DNAH11	E	506	K	E506K	Likely benign	0	1	5	57
MUT:DNAH11:Glu618Lys	PROT:Q96DT5	DNAH11	E	618	K	E618K	Benign	0	1	5	169
MUT:DNAH11:Glu788Asp	PROT:Q96DT5	DNAH11	E	788	D	E788D	Likely benign	0	1	5	331
MUT:DNAH11:Glu794Lys	PROT:Q96DT5	DNAH11	E	794	K	E794K	Benign/Likely benign	0	2	5	325
MUT:DNAH11:Glu814Gln	PROT:Q96DT5	DNAH11	E	814	Q	E814Q	Likely benign	0	1	5	305
MUT:DNAH11:Glu935Lys	PROT:Q96DT5	DNAH11	E	935	K	E935K	Likely benign	0	1	5	184
MUT:DNAH11:Glu964Asp	PROT:Q96DT5	DNAH11	E	964	D	E964D	Benign	0	1	5	155
MUT:DNAH11:Glu974Gly	PROT:Q96DT5	DNAH11	E	974	G	E974G	Likely benign	0	1	5	145
MUT:DNAH11:Gly1008Ala	PROT:Q96DT5	DNAH11	G	1008	A	G1008A	Likely benign	0	1	5	111
MUT:DNAH11:Gly1385Ser	PROT:Q96DT5	DNAH11	G	1385	S	G1385S	Benign	0	1	5	263
MUT:DNAH11:Gly1482Asp	PROT:Q96DT5	DNAH11	G	1482	D	G1482D	Benign	0	1	5	360
MUT:DNAH11:Gly1755Ala	PROT:Q96DT5	DNAH11	G	1755	A	G1755A	Benign	0	1	5	633
MUT:DNAH11:Gly1789Val	PROT:Q96DT5	DNAH11	G	1789	V	G1789V	Benign	0	1	5	667
MUT:DNAH11:Gly1794Ala	PROT:Q96DT5	DNAH11	G	1794	A	G1794A	Likely benign	0	1	5	672
MUT:DNAH11:Gly204Ser	PROT:Q96DT5	DNAH11	G	204	S	G204S	Likely benign	0	1	5	245
MUT:DNAH11:Gly2078Arg	PROT:Q96DT5	DNAH11	G	2078	R	G2078R	Likely benign	0	1	5	908
MUT:DNAH11:Gly2083Arg	PROT:Q96DT5	DNAH11	G	2083	R	G2083R	Likely benign	0	1	5	903
MUT:DNAH11:Gly2115Ser	PROT:Q96DT5	DNAH11	G	2115	S	G2115S	Benign	0	1	5	871
MUT:DNAH11:Gly2177Asp	PROT:Q96DT5	DNAH11	G	2177	D	G2177D	Pathogenic	1	1	5	809
MUT:DNAH11:Gly2236Arg	PROT:Q96DT5	DNAH11	G	2236	R	G2236R	Likely pathogenic	1	1	5	750
MUT:DNAH11:Gly2447Ala	PROT:Q96DT5	DNAH11	G	2447	A	G2447A	Likely benign	0	1	5	539
MUT:DNAH11:Gly2447Arg	PROT:Q96DT5	DNAH11	G	2447	R	G2447R	Benign	0	1	5	539
MUT:DNAH11:Gly2521Ala	PROT:Q96DT5	DNAH11	G	2521	A	G2521A	Likely benign	0	1	5	465
MUT:DNAH11:Gly2560Ala	PROT:Q96DT5	DNAH11	G	2560	A	G2560A	Likely benign	0	1	5	426
MUT:DNAH11:Gly2564Ser	PROT:Q96DT5	DNAH11	G	2564	S	G2564S	Benign	0	1	5	422
MUT:DNAH11:Gly2566Glu	PROT:Q96DT5	DNAH11	G	2566	E	G2566E	Likely benign	0	1	5	420
MUT:DNAH11:Gly2567Arg	PROT:Q96DT5	DNAH11	G	2567	R	G2567R	Likely benign	0	1	5	419
MUT:DNAH11:Gly2679Ala	PROT:Q96DT5	DNAH11	G	2679	A	G2679A	Likely benign	0	1	5	307
MUT:DNAH11:Gly2730Cys	PROT:Q96DT5	DNAH11	G	2730	C	G2730C	Benign/Likely benign	0	2	5	256
MUT:DNAH11:Gly2855Arg	PROT:Q96DT5	DNAH11	G	2855	R	G2855R	Likely pathogenic	1	1	5	131
MUT:DNAH11:Gly2857Ala	PROT:Q96DT5	DNAH11	G	2857	A	G2857A	Benign	0	1	5	129
MUT:DNAH11:Gly3102Asp	PROT:Q96DT5	DNAH11	G	3102	D	G3102D	Benign	0	1	5	116
MUT:DNAH11:Gly3142Ser	PROT:Q96DT5	DNAH11	G	3142	S	G3142S	Likely benign	0	1	5	156
MUT:DNAH11:Gly3394Cys	PROT:Q96DT5	DNAH11	G	3394	C	G3394C	Likely benign	0	1	5	408
MUT:DNAH11:Gly3422Arg	PROT:Q96DT5	DNAH11	G	3422	R	G3422R	Pathogenic/Likely pathogenic	1	2	5	436
MUT:DNAH11:Gly3452Arg	PROT:Q96DT5	DNAH11	G	3452	R	G3452R	Benign	0	1	5	455
MUT:DNAH11:Gly3520Asp	PROT:Q96DT5	DNAH11	G	3520	D	G3520D	Benign	0	1	5	387
MUT:DNAH11:Gly3611Ser	PROT:Q96DT5	DNAH11	G	3611	S	G3611S	Benign	0	1	5	296
MUT:DNAH11:Gly3999Ala	PROT:Q96DT5	DNAH11	G	3999	A	G3999A	Likely benign	0	1	5	92
MUT:DNAH11:Gly4240Ser	PROT:Q96DT5	DNAH11	G	4240	S	G4240S	Benign	0	1	5	333
MUT:DNAH11:Gly447Arg	PROT:Q96DT5	DNAH11	G	447	R	G447R	Likely benign	0	1	5	2
MUT:DNAH11:Gly493Asp	PROT:Q96DT5	DNAH11	G	493	D	G493D	Benign	0	1	5	44
MUT:DNAH11:Gly494Asp	PROT:Q96DT5	DNAH11	G	494	D	G494D	Benign	0	1	5	45
MUT:DNAH11:Gly63Ala	PROT:Q96DT5	DNAH11	G	63	A	G63A	Benign	0	1	5	386
MUT:DNAH11:Gly71Glu	PROT:Q96DT5	DNAH11	G	71	E	G71E	Benign	0	1	5	378
MUT:DNAH11:Gly761Arg	PROT:Q96DT5	DNAH11	G	761	R	G761R	Benign	0	1	5	312
MUT:DNAH11:Gly879Val	PROT:Q96DT5	DNAH11	G	879	V	G879V	Likely benign	0	1	5	240
MUT:DNAH11:His1051Tyr	PROT:Q96DT5	DNAH11	H	1051	Y	H1051Y	Likely benign	0	1	5	68
MUT:DNAH11:His1057Arg	PROT:Q96DT5	DNAH11	H	1057	R	H1057R	Benign	0	1	5	62
MUT:DNAH11:His1067Arg	PROT:Q96DT5	DNAH11	H	1067	R	H1067R	Benign	0	1	5	52
MUT:DNAH11:His1134Arg	PROT:Q96DT5	DNAH11	H	1134	R	H1134R	Benign	0	1	5	12
MUT:DNAH11:His1166Pro	PROT:Q96DT5	DNAH11	H	1166	P	H1166P	Benign	0	1	5	44
MUT:DNAH11:His1267Arg	PROT:Q96DT5	DNAH11	H	1267	R	H1267R	Likely benign	0	1	5	145
MUT:DNAH11:His1352Asp	PROT:Q96DT5	DNAH11	H	1352	D	H1352D	Benign	0	1	5	230
MUT:DNAH11:His1438Tyr	PROT:Q96DT5	DNAH11	H	1438	Y	H1438Y	Likely benign	0	1	5	316
MUT:DNAH11:His1498Arg	PROT:Q96DT5	DNAH11	H	1498	R	H1498R	Benign	0	1	5	376
MUT:DNAH11:His158Arg	PROT:Q96DT5	DNAH11	H	158	R	H158R	Likely benign	0	1	5	291
MUT:DNAH11:His1716Arg	PROT:Q96DT5	DNAH11	H	1716	R	H1716R	Benign	0	1	5	594
MUT:DNAH11:His177Arg	PROT:Q96DT5	DNAH11	H	177	R	H177R	Likely benign	0	1	5	272
MUT:DNAH11:His1884Arg	PROT:Q96DT5	DNAH11	H	1884	R	H1884R	Benign	0	1	5	762
MUT:DNAH11:His2218Arg	PROT:Q96DT5	DNAH11	H	2218	R	H2218R	Benign	0	1	5	768
MUT:DNAH11:His2218Asn	PROT:Q96DT5	DNAH11	H	2218	N	H2218N	Likely benign	0	1	5	768
MUT:DNAH11:His2219Gln	PROT:Q96DT5	DNAH11	H	2219	Q	H2219Q	Likely benign	0	1	5	767
MUT:DNAH11:His2301Leu	PROT:Q96DT5	DNAH11	H	2301	L	H2301L	Likely benign	0	1	5	685
MUT:DNAH11:His2339Tyr	PROT:Q96DT5	DNAH11	H	2339	Y	H2339Y	Likely benign	0	1	5	647
MUT:DNAH11:His2640Gln	PROT:Q96DT5	DNAH11	H	2640	Q	H2640Q	Likely benign	0	1	5	346
MUT:DNAH11:His2736Arg	PROT:Q96DT5	DNAH11	H	2736	R	H2736R	Likely benign	0	1	5	250
MUT:DNAH11:His2788Asp	PROT:Q96DT5	DNAH11	H	2788	D	H2788D	Benign	0	1	5	198
MUT:DNAH11:His3037Arg	PROT:Q96DT5	DNAH11	H	3037	R	H3037R	Likely benign	0	3	5	51
MUT:DNAH11:His3049Tyr	PROT:Q96DT5	DNAH11	H	3049	Y	H3049Y	Likely benign	0	1	5	63
MUT:DNAH11:His3066Gln	PROT:Q96DT5	DNAH11	H	3066	Q	H3066Q	Benign	0	1	5	80
MUT:DNAH11:His345Gln	PROT:Q96DT5	DNAH11	H	345	Q	H345Q	Likely benign	0	1	5	104
MUT:DNAH11:His3488Arg	PROT:Q96DT5	DNAH11	H	3488	R	H3488R	Benign	0	1	5	419
MUT:DNAH11:His3488Gln	PROT:Q96DT5	DNAH11	H	3488	Q	H3488Q	Likely benign	0	1	5	419
MUT:DNAH11:His3816Tyr	PROT:Q96DT5	DNAH11	H	3816	Y	H3816Y	Benign/Likely benign	0	1	5	91
MUT:DNAH11:His4031Arg	PROT:Q96DT5	DNAH11	H	4031	R	H4031R	Likely benign	0	1	5	124
MUT:DNAH11:His613Tyr	PROT:Q96DT5	DNAH11	H	613	Y	H613Y	Benign	0	1	5	164
MUT:DNAH11:His665Asp	PROT:Q96DT5	DNAH11	H	665	D	H665D	Likely benign	0	1	5	216
MUT:DNAH11:His855Arg	PROT:Q96DT5	DNAH11	H	855	R	H855R	Likely benign	0	1	5	264
MUT:DNAH11:His855Tyr	PROT:Q96DT5	DNAH11	H	855	Y	H855Y	Benign/Likely benign	0	1	5	264
MUT:DNAH11:His925Arg	PROT:Q96DT5	DNAH11	H	925	R	H925R	Benign	0	1	5	194
MUT:DNAH11:Ile1016Phe	PROT:Q96DT5	DNAH11	I	1016	F	I1016F	Benign	0	1	5	103
MUT:DNAH11:Ile1123Met	PROT:Q96DT5	DNAH11	I	1123	M	I1123M	Benign	0	1	5	1
MUT:DNAH11:Ile1124Val	PROT:Q96DT5	DNAH11	I	1124	V	I1124V	Benign	0	1	5	2
MUT:DNAH11:Ile1197Val	PROT:Q96DT5	DNAH11	I	1197	V	I1197V	Likely benign	0	1	5	75
MUT:DNAH11:Ile1228Met	PROT:Q96DT5	DNAH11	I	1228	M	I1228M	Likely benign	0	1	5	106
MUT:DNAH11:Ile1247Leu	PROT:Q96DT5	DNAH11	I	1247	L	I1247L	Likely benign	0	1	5	125
MUT:DNAH11:Ile1247Lys	PROT:Q96DT5	DNAH11	I	1247	K	I1247K	Benign	0	1	5	125
MUT:DNAH11:Ile1247Thr	PROT:Q96DT5	DNAH11	I	1247	T	I1247T	Likely benign	0	1	5	125
MUT:DNAH11:Ile1252Val	PROT:Q96DT5	DNAH11	I	1252	V	I1252V	Likely benign	0	1	5	130
MUT:DNAH11:Ile1340Val	PROT:Q96DT5	DNAH11	I	1340	V	I1340V	Likely benign	0	1	5	218
MUT:DNAH11:Ile1417Thr	PROT:Q96DT5	DNAH11	I	1417	T	I1417T	Benign/Likely benign	0	1	5	295
MUT:DNAH11:Ile1461Val	PROT:Q96DT5	DNAH11	I	1461	V	I1461V	Likely benign	0	1	5	339
MUT:DNAH11:Ile1516Thr	PROT:Q96DT5	DNAH11	I	1516	T	I1516T	Likely benign	0	1	5	394
MUT:DNAH11:Ile1533Ser	PROT:Q96DT5	DNAH11	I	1533	S	I1533S	Benign/Likely benign	0	2	5	411
MUT:DNAH11:Ile1556Met	PROT:Q96DT5	DNAH11	I	1556	M	I1556M	Likely benign	0	1	5	434
MUT:DNAH11:Ile1623Met	PROT:Q96DT5	DNAH11	I	1623	M	I1623M	Benign	0	1	5	501
MUT:DNAH11:Ile1623Thr	PROT:Q96DT5	DNAH11	I	1623	T	I1623T	Benign/Likely benign	0	1	5	501
MUT:DNAH11:Ile1623Val	PROT:Q96DT5	DNAH11	I	1623	V	I1623V	Likely benign	0	1	5	501
MUT:DNAH11:Ile1639Leu	PROT:Q96DT5	DNAH11	I	1639	L	I1639L	Likely benign	0	1	5	517
MUT:DNAH11:Ile1660Val	PROT:Q96DT5	DNAH11	I	1660	V	I1660V	Likely benign	0	1	5	538
MUT:DNAH11:Ile1718Val	PROT:Q96DT5	DNAH11	I	1718	V	I1718V	Benign	0	2	5	596
MUT:DNAH11:Ile1722Thr	PROT:Q96DT5	DNAH11	I	1722	T	I1722T	Likely benign	0	1	5	600
MUT:DNAH11:Ile1722Val	PROT:Q96DT5	DNAH11	I	1722	V	I1722V	Benign	0	1	5	600
MUT:DNAH11:Ile1799Thr	PROT:Q96DT5	DNAH11	I	1799	T	I1799T	Likely benign	0	1	5	677
MUT:DNAH11:Ile1805Thr	PROT:Q96DT5	DNAH11	I	1805	T	I1805T	Benign	0	1	5	683
MUT:DNAH11:Ile192Met	PROT:Q96DT5	DNAH11	I	192	M	I192M	Benign/Likely benign	0	1	5	257
MUT:DNAH11:Ile1931Val	PROT:Q96DT5	DNAH11	I	1931	V	I1931V	Likely benign	0	1	5	809
MUT:DNAH11:Ile1983Phe	PROT:Q96DT5	DNAH11	I	1983	F	I1983F	Benign	0	1	5	861
MUT:DNAH11:Ile2023Val	PROT:Q96DT5	DNAH11	I	2023	V	I2023V	Benign/Likely benign	0	2	5	901
MUT:DNAH11:Ile2047Leu	PROT:Q96DT5	DNAH11	I	2047	L	I2047L	Likely benign	0	1	5	925
MUT:DNAH11:Ile2070Val	PROT:Q96DT5	DNAH11	I	2070	V	I2070V	Benign	0	1	5	916
MUT:DNAH11:Ile214Val	PROT:Q96DT5	DNAH11	I	214	V	I214V	Benign/Likely benign	0	2	5	235
MUT:DNAH11:Ile2229Met	PROT:Q96DT5	DNAH11	I	2229	M	I2229M	Likely benign	0	1	5	757
MUT:DNAH11:Ile2256Val	PROT:Q96DT5	DNAH11	I	2256	V	I2256V	Benign	0	1	5	730
MUT:DNAH11:Ile2368Val	PROT:Q96DT5	DNAH11	I	2368	V	I2368V	Likely benign	0	1	5	618
MUT:DNAH11:Ile2371Thr	PROT:Q96DT5	DNAH11	I	2371	T	I2371T	Likely benign	0	1	5	615
MUT:DNAH11:Ile2371Val	PROT:Q96DT5	DNAH11	I	2371	V	I2371V	Benign	0	1	5	615
MUT:DNAH11:Ile238Val	PROT:Q96DT5	DNAH11	I	238	V	I238V	Likely benign	0	1	5	211
MUT:DNAH11:Ile239Val	PROT:Q96DT5	DNAH11	I	239	V	I239V	Likely benign	0	1	5	210
MUT:DNAH11:Ile2411Ser	PROT:Q96DT5	DNAH11	I	2411	S	I2411S	Likely benign	0	1	5	575
MUT:DNAH11:Ile243Phe	PROT:Q96DT5	DNAH11	I	243	F	I243F	Likely benign	0	1	5	206
MUT:DNAH11:Ile2449Leu	PROT:Q96DT5	DNAH11	I	2449	L	I2449L	Benign	0	1	5	537
MUT:DNAH11:Ile248Thr	PROT:Q96DT5	DNAH11	I	248	T	I248T	Likely benign	0	1	5	201
MUT:DNAH11:Ile2572Phe	PROT:Q96DT5	DNAH11	I	2572	F	I2572F	Benign	0	1	5	414
MUT:DNAH11:Ile257Val	PROT:Q96DT5	DNAH11	I	257	V	I257V	Likely benign	0	1	5	192
MUT:DNAH11:Ile258Met	PROT:Q96DT5	DNAH11	I	258	M	I258M	Likely benign	0	1	5	191
MUT:DNAH11:Ile258Val	PROT:Q96DT5	DNAH11	I	258	V	I258V	Benign/Likely benign	0	1	5	191
MUT:DNAH11:Ile2599Val	PROT:Q96DT5	DNAH11	I	2599	V	I2599V	Benign	0	1	5	387
MUT:DNAH11:Ile2707Leu	PROT:Q96DT5	DNAH11	I	2707	L	I2707L	Likely benign	0	1	5	279
MUT:DNAH11:Ile2707Val	PROT:Q96DT5	DNAH11	I	2707	V	I2707V	Likely benign	0	1	5	279
MUT:DNAH11:Ile2751Met	PROT:Q96DT5	DNAH11	I	2751	M	I2751M	Likely benign	0	1	5	235
MUT:DNAH11:Ile2774Thr	PROT:Q96DT5	DNAH11	I	2774	T	I2774T	Likely benign	0	1	5	212
MUT:DNAH11:Ile2947Thr	PROT:Q96DT5	DNAH11	I	2947	T	I2947T	Likely benign	0	1	5	39
MUT:DNAH11:Ile2951Thr	PROT:Q96DT5	DNAH11	I	2951	T	I2951T	Benign	0	1	5	35
MUT:DNAH11:Ile3008Thr	PROT:Q96DT5	DNAH11	I	3008	T	I3008T	Likely benign	0	1	5	22
MUT:DNAH11:Ile3033Thr	PROT:Q96DT5	DNAH11	I	3033	T	I3033T	Benign/Likely benign	0	2	5	47
MUT:DNAH11:Ile3033Val	PROT:Q96DT5	DNAH11	I	3033	V	I3033V	Benign/Likely benign	0	2	5	47
MUT:DNAH11:Ile3041Phe	PROT:Q96DT5	DNAH11	I	3041	F	I3041F	Likely benign	0	1	5	55
MUT:DNAH11:Ile3141Val	PROT:Q96DT5	DNAH11	I	3141	V	I3141V	Benign	0	1	5	155
MUT:DNAH11:Ile3165Val	PROT:Q96DT5	DNAH11	I	3165	V	I3165V	Likely benign	0	2	5	179
MUT:DNAH11:Ile3256Thr	PROT:Q96DT5	DNAH11	I	3256	T	I3256T	Benign	0	1	5	270
MUT:DNAH11:Ile3263Val	PROT:Q96DT5	DNAH11	I	3263	V	I3263V	Benign	0	1	5	277
MUT:DNAH11:Ile3286Phe	PROT:Q96DT5	DNAH11	I	3286	F	I3286F	Benign	0	1	5	300
MUT:DNAH11:Ile3304Val	PROT:Q96DT5	DNAH11	I	3304	V	I3304V	Likely benign	0	1	5	318
MUT:DNAH11:Ile3376Met	PROT:Q96DT5	DNAH11	I	3376	M	I3376M	Likely benign	0	1	5	390
MUT:DNAH11:Ile3391Phe	PROT:Q96DT5	DNAH11	I	3391	F	I3391F	Benign	0	1	5	405
MUT:DNAH11:Ile3485Thr	PROT:Q96DT5	DNAH11	I	3485	T	I3485T	Likely benign	0	1	5	422
MUT:DNAH11:Ile3485Val	PROT:Q96DT5	DNAH11	I	3485	V	I3485V	Likely benign	0	1	5	422
MUT:DNAH11:Ile3540Val	PROT:Q96DT5	DNAH11	I	3540	V	I3540V	Benign	0	1	5	367
MUT:DNAH11:Ile3566Val	PROT:Q96DT5	DNAH11	I	3566	V	I3566V	Likely benign	0	1	5	341
MUT:DNAH11:Ile359Met	PROT:Q96DT5	DNAH11	I	359	M	I359M	Likely benign	0	1	5	90
MUT:DNAH11:Ile359Val	PROT:Q96DT5	DNAH11	I	359	V	I359V	Likely benign	0	1	5	90
MUT:DNAH11:Ile3684Leu	PROT:Q96DT5	DNAH11	I	3684	L	I3684L	Benign	0	1	5	223
MUT:DNAH11:Ile3725Val	PROT:Q96DT5	DNAH11	I	3725	V	I3725V	Benign	0	1	5	182
MUT:DNAH11:Ile3757Asn	PROT:Q96DT5	DNAH11	I	3757	N	I3757N	Likely benign	0	1	5	150
MUT:DNAH11:Ile3792Val	PROT:Q96DT5	DNAH11	I	3792	V	I3792V	Benign/Likely benign	0	2	5	115
MUT:DNAH11:Ile3799Thr	PROT:Q96DT5	DNAH11	I	3799	T	I3799T	Benign	0	1	5	108
MUT:DNAH11:Ile385Leu	PROT:Q96DT5	DNAH11	I	385	L	I385L	Benign	0	1	5	64
MUT:DNAH11:Ile396Val	PROT:Q96DT5	DNAH11	I	396	V	I396V	Likely benign	0	1	5	53
MUT:DNAH11:Ile4070Val	PROT:Q96DT5	DNAH11	I	4070	V	I4070V	Likely benign	0	1	5	163
MUT:DNAH11:Ile4115Ser	PROT:Q96DT5	DNAH11	I	4115	S	I4115S	Benign/Likely benign	0	2	5	208
MUT:DNAH11:Ile4115Thr	PROT:Q96DT5	DNAH11	I	4115	T	I4115T	Benign	0	1	5	208
MUT:DNAH11:Ile4215Thr	PROT:Q96DT5	DNAH11	I	4215	T	I4215T	Benign	0	1	5	308
MUT:DNAH11:Ile4271Leu	PROT:Q96DT5	DNAH11	I	4271	L	I4271L	Likely benign	0	1	5	364
MUT:DNAH11:Ile4301Val	PROT:Q96DT5	DNAH11	I	4301	V	I4301V	Benign/Likely benign	0	1	5	394
MUT:DNAH11:Ile472Thr	PROT:Q96DT5	DNAH11	I	472	T	I472T	Likely benign	0	1	5	23
MUT:DNAH11:Ile477Val	PROT:Q96DT5	DNAH11	I	477	V	I477V	Likely benign	0	1	5	28
MUT:DNAH11:Ile555Thr	PROT:Q96DT5	DNAH11	I	555	T	I555T	Likely benign	0	1	5	106
MUT:DNAH11:Ile587Met	PROT:Q96DT5	DNAH11	I	587	M	I587M	Benign	0	1	5	138
MUT:DNAH11:Ile712Val	PROT:Q96DT5	DNAH11	I	712	V	I712V	Benign	0	1	5	263
MUT:DNAH11:Ile792Val	PROT:Q96DT5	DNAH11	I	792	V	I792V	Likely benign	0	1	5	327
MUT:DNAH11:Ile877Met	PROT:Q96DT5	DNAH11	I	877	M	I877M	Likely benign	0	1	5	242
MUT:DNAH11:Ile911Val	PROT:Q96DT5	DNAH11	I	911	V	I911V	Likely benign	0	1	5	208
MUT:DNAH11:Ile914Val	PROT:Q96DT5	DNAH11	I	914	V	I914V	Likely benign	0	1	5	205
MUT:DNAH11:Ile923Val	PROT:Q96DT5	DNAH11	I	923	V	I923V	Benign	0	1	5	196
MUT:DNAH11:Leu1028Ser	PROT:Q96DT5	DNAH11	L	1028	S	L1028S	Benign	0	1	5	91
MUT:DNAH11:Leu1053Phe	PROT:Q96DT5	DNAH11	L	1053	F	L1053F	Likely benign	0	1	5	66
MUT:DNAH11:Leu1054Phe	PROT:Q96DT5	DNAH11	L	1054	F	L1054F	Likely benign	0	1	5	65
MUT:DNAH11:Leu1297Trp	PROT:Q96DT5	DNAH11	L	1297	W	L1297W	Benign	0	1	5	175
MUT:DNAH11:Leu1325Phe	PROT:Q96DT5	DNAH11	L	1325	F	L1325F	Benign	0	1	5	203
MUT:DNAH11:Leu1394Gln	PROT:Q96DT5	DNAH11	L	1394	Q	L1394Q	Likely benign	0	1	5	272
MUT:DNAH11:Leu1432Phe	PROT:Q96DT5	DNAH11	L	1432	F	L1432F	Likely benign	0	1	5	310
MUT:DNAH11:Leu1526Ile	PROT:Q96DT5	DNAH11	L	1526	I	L1526I	Likely benign	0	1	5	404
MUT:DNAH11:Leu1637Arg	PROT:Q96DT5	DNAH11	L	1637	R	L1637R	Likely benign	0	1	5	515
MUT:DNAH11:Leu1761Met	PROT:Q96DT5	DNAH11	L	1761	M	L1761M	Likely benign	0	1	5	639
MUT:DNAH11:Leu1787Ser	PROT:Q96DT5	DNAH11	L	1787	S	L1787S	Benign	0	1	5	665
MUT:DNAH11:Leu1871Val	PROT:Q96DT5	DNAH11	L	1871	V	L1871V	Benign	0	1	5	749
MUT:DNAH11:Leu1910Val	PROT:Q96DT5	DNAH11	L	1910	V	L1910V	Likely benign	0	1	5	788
MUT:DNAH11:Leu211Pro	PROT:Q96DT5	DNAH11	L	211	P	L211P	Likely benign	0	1	5	238
MUT:DNAH11:Leu2132Val	PROT:Q96DT5	DNAH11	L	2132	V	L2132V	Likely benign	0	1	5	854
MUT:DNAH11:Leu2242Val	PROT:Q96DT5	DNAH11	L	2242	V	L2242V	Benign	0	1	5	744
MUT:DNAH11:Leu2248Val	PROT:Q96DT5	DNAH11	L	2248	V	L2248V	Benign	0	1	5	738
MUT:DNAH11:Leu2290Phe	PROT:Q96DT5	DNAH11	L	2290	F	L2290F	Likely benign	0	1	5	696
MUT:DNAH11:Leu2346Met	PROT:Q96DT5	DNAH11	L	2346	M	L2346M	Benign	0	1	5	640
MUT:DNAH11:Leu2361Met	PROT:Q96DT5	DNAH11	L	2361	M	L2361M	Benign	0	1	5	625
MUT:DNAH11:Leu2483Phe	PROT:Q96DT5	DNAH11	L	2483	F	L2483F	Likely benign	0	1	5	503
MUT:DNAH11:Leu2492Ile	PROT:Q96DT5	DNAH11	L	2492	I	L2492I	Likely benign	0	1	5	494
MUT:DNAH11:Leu2500Ile	PROT:Q96DT5	DNAH11	L	2500	I	L2500I	Benign	0	1	5	486
MUT:DNAH11:Leu2524Met	PROT:Q96DT5	DNAH11	L	2524	M	L2524M	Benign/Likely benign	0	1	5	462
MUT:DNAH11:Leu2527Pro	PROT:Q96DT5	DNAH11	L	2527	P	L2527P	Benign	0	1	5	459
MUT:DNAH11:Leu2651Ser	PROT:Q96DT5	DNAH11	L	2651	S	L2651S	Benign	0	1	5	335
MUT:DNAH11:Leu270Phe	PROT:Q96DT5	DNAH11	L	270	F	L270F	Likely benign	0	1	5	179
MUT:DNAH11:Leu2758Ser	PROT:Q96DT5	DNAH11	L	2758	S	L2758S	Benign	0	1	5	228
MUT:DNAH11:Leu278Arg	PROT:Q96DT5	DNAH11	L	278	R	L278R	Benign	0	1	5	171
MUT:DNAH11:Leu27Arg	PROT:Q96DT5	DNAH11	L	27	R	L27R	Benign	0	1	5	422
MUT:DNAH11:Leu27Val	PROT:Q96DT5	DNAH11	L	27	V	L27V	Benign	0	1	5	422
MUT:DNAH11:Leu2829Trp	PROT:Q96DT5	DNAH11	L	2829	W	L2829W	Likely benign	0	1	5	157
MUT:DNAH11:Leu2894Ile	PROT:Q96DT5	DNAH11	L	2894	I	L2894I	Likely benign	0	1	5	92
MUT:DNAH11:Leu2925Pro	PROT:Q96DT5	DNAH11	L	2925	P	L2925P	Benign	0	1	5	61
MUT:DNAH11:Leu3019Val	PROT:Q96DT5	DNAH11	L	3019	V	L3019V	Likely benign	0	1	5	33
MUT:DNAH11:Leu3084Met	PROT:Q96DT5	DNAH11	L	3084	M	L3084M	Benign	0	1	5	98
MUT:DNAH11:Leu3181Ile	PROT:Q96DT5	DNAH11	L	3181	I	L3181I	Likely benign	0	1	5	195
MUT:DNAH11:Leu3327Met	PROT:Q96DT5	DNAH11	L	3327	M	L3327M	Benign	0	1	5	341
MUT:DNAH11:Leu3351Phe	PROT:Q96DT5	DNAH11	L	3351	F	L3351F	Likely benign	0	1	5	365
MUT:DNAH11:Leu3378Ser	PROT:Q96DT5	DNAH11	L	3378	S	L3378S	Likely benign	0	1	5	392
MUT:DNAH11:Leu3382Phe	PROT:Q96DT5	DNAH11	L	3382	F	L3382F	Likely benign	0	1	5	396
MUT:DNAH11:Leu3486Val	PROT:Q96DT5	DNAH11	L	3486	V	L3486V	Benign	0	1	5	421
MUT:DNAH11:Leu3494Pro	PROT:Q96DT5	DNAH11	L	3494	P	L3494P	Likely benign	0	1	5	413
MUT:DNAH11:Leu3525Ser	PROT:Q96DT5	DNAH11	L	3525	S	L3525S	Likely benign	0	1	5	382
MUT:DNAH11:Leu3543Phe	PROT:Q96DT5	DNAH11	L	3543	F	L3543F	Benign/Likely benign	0	1	5	364
MUT:DNAH11:Leu3555Ile	PROT:Q96DT5	DNAH11	L	3555	I	L3555I	Likely benign	0	1	5	352
MUT:DNAH11:Leu35Arg	PROT:Q96DT5	DNAH11	L	35	R	L35R	Benign	0	1	5	414
MUT:DNAH11:Leu3602Phe	PROT:Q96DT5	DNAH11	L	3602	F	L3602F	Likely benign	0	1	5	305
MUT:DNAH11:Leu3602Val	PROT:Q96DT5	DNAH11	L	3602	V	L3602V	Likely benign	0	1	5	305
MUT:DNAH11:Leu3715Val	PROT:Q96DT5	DNAH11	L	3715	V	L3715V	Likely benign	0	1	5	192
MUT:DNAH11:Leu3722Pro	PROT:Q96DT5	DNAH11	L	3722	P	L3722P	Likely pathogenic	1	2	5	185
MUT:DNAH11:Leu3785Pro	PROT:Q96DT5	DNAH11	L	3785	P	L3785P	Likely benign	0	1	5	122
MUT:DNAH11:Leu3802Val	PROT:Q96DT5	DNAH11	L	3802	V	L3802V	Likely benign	0	1	5	105
MUT:DNAH11:Leu3868Ile	PROT:Q96DT5	DNAH11	L	3868	I	L3868I	Likely benign	0	1	5	39
MUT:DNAH11:Leu3916Ser	PROT:Q96DT5	DNAH11	L	3916	S	L3916S	Likely benign	0	2	5	9
MUT:DNAH11:Leu403Val	PROT:Q96DT5	DNAH11	L	403	V	L403V	Likely benign	0	1	5	46
MUT:DNAH11:Leu4053Pro	PROT:Q96DT5	DNAH11	L	4053	P	L4053P	Likely benign	0	1	5	146
MUT:DNAH11:Leu4084Val	PROT:Q96DT5	DNAH11	L	4084	V	L4084V	Likely benign	0	1	5	177
MUT:DNAH11:Leu4095Pro	PROT:Q96DT5	DNAH11	L	4095	P	L4095P	Likely benign	0	1	5	188
MUT:DNAH11:Leu4124Val	PROT:Q96DT5	DNAH11	L	4124	V	L4124V	Benign/Likely benign	0	3	5	217
MUT:DNAH11:Leu4174Arg	PROT:Q96DT5	DNAH11	L	4174	R	L4174R	Benign/Likely benign	0	2	5	267
MUT:DNAH11:Leu4206Met	PROT:Q96DT5	DNAH11	L	4206	M	L4206M	Likely benign	0	1	5	299
MUT:DNAH11:Leu4339Pro	PROT:Q96DT5	DNAH11	L	4339	P	L4339P	Likely benign	0	1	5	432
MUT:DNAH11:Leu4406Val	PROT:Q96DT5	DNAH11	L	4406	V	L4406V	Likely benign	0	1	5	499
MUT:DNAH11:Leu4428Phe	PROT:Q96DT5	DNAH11	L	4428	F	L4428F	Benign	0	1	5	521
MUT:DNAH11:Leu490Gln	PROT:Q96DT5	DNAH11	L	490	Q	L490Q	Likely benign	0	1	5	41
MUT:DNAH11:Leu517His	PROT:Q96DT5	DNAH11	L	517	H	L517H	Likely benign	0	1	5	68
MUT:DNAH11:Leu766Pro	PROT:Q96DT5	DNAH11	L	766	P	L766P	Benign	0	1	5	317
MUT:DNAH11:Leu773Phe	PROT:Q96DT5	DNAH11	L	773	F	L773F	Likely benign	0	1	5	324
MUT:DNAH11:Leu938Ser	PROT:Q96DT5	DNAH11	L	938	S	L938S	Likely benign	0	1	5	181
MUT:DNAH11:Lys1226Glu	PROT:Q96DT5	DNAH11	K	1226	E	K1226E	Likely benign	0	1	5	104
MUT:DNAH11:Lys1324Gln	PROT:Q96DT5	DNAH11	K	1324	Q	K1324Q	Likely benign	0	1	5	202
MUT:DNAH11:Lys1327Arg	PROT:Q96DT5	DNAH11	K	1327	R	K1327R	Likely benign	0	1	5	205
MUT:DNAH11:Lys1388Asn	PROT:Q96DT5	DNAH11	K	1388	N	K1388N	Likely benign	0	1	5	266
MUT:DNAH11:Lys1388Glu	PROT:Q96DT5	DNAH11	K	1388	E	K1388E	Likely benign	0	1	5	266
MUT:DNAH11:Lys1583Arg	PROT:Q96DT5	DNAH11	K	1583	R	K1583R	Likely benign	0	1	5	461
MUT:DNAH11:Lys1583Glu	PROT:Q96DT5	DNAH11	K	1583	E	K1583E	Benign	0	1	5	461
MUT:DNAH11:Lys1601Arg	PROT:Q96DT5	DNAH11	K	1601	R	K1601R	Likely benign	0	1	5	479
MUT:DNAH11:Lys1601Thr	PROT:Q96DT5	DNAH11	K	1601	T	K1601T	Benign	0	1	5	479
MUT:DNAH11:Lys174Asn	PROT:Q96DT5	DNAH11	K	174	N	K174N	Likely benign	0	1	5	275
MUT:DNAH11:Lys1798Arg	PROT:Q96DT5	DNAH11	K	1798	R	K1798R	Benign	0	1	5	676
MUT:DNAH11:Lys1815Arg	PROT:Q96DT5	DNAH11	K	1815	R	K1815R	Likely benign	0	1	5	693
MUT:DNAH11:Lys1933Thr	PROT:Q96DT5	DNAH11	K	1933	T	K1933T	Likely benign	0	1	5	811
MUT:DNAH11:Lys2054Met	PROT:Q96DT5	DNAH11	K	2054	M	K2054M	Likely benign	0	1	5	932
MUT:DNAH11:Lys205Thr	PROT:Q96DT5	DNAH11	K	205	T	K205T	Likely benign	0	1	5	244
MUT:DNAH11:Lys2249Asn	PROT:Q96DT5	DNAH11	K	2249	N	K2249N	Benign	0	1	5	737
MUT:DNAH11:Lys2343Asn	PROT:Q96DT5	DNAH11	K	2343	N	K2343N	Benign	0	1	5	643
MUT:DNAH11:Lys2352Ile	PROT:Q96DT5	DNAH11	K	2352	I	K2352I	Likely benign	0	1	5	634
MUT:DNAH11:Lys2459Asn	PROT:Q96DT5	DNAH11	K	2459	N	K2459N	Likely benign	0	1	5	527
MUT:DNAH11:Lys2467Arg	PROT:Q96DT5	DNAH11	K	2467	R	K2467R	Likely benign	0	1	5	519
MUT:DNAH11:Lys2753Gln	PROT:Q96DT5	DNAH11	K	2753	Q	K2753Q	Benign	0	1	5	233
MUT:DNAH11:Lys3182Met	PROT:Q96DT5	DNAH11	K	3182	M	K3182M	Likely benign	0	1	5	196
MUT:DNAH11:Lys3234Glu	PROT:Q96DT5	DNAH11	K	3234	E	K3234E	Benign	0	1	5	248
MUT:DNAH11:Lys3305Ile	PROT:Q96DT5	DNAH11	K	3305	I	K3305I	Benign	0	1	5	319
MUT:DNAH11:Lys3305Thr	PROT:Q96DT5	DNAH11	K	3305	T	K3305T	Benign	0	1	5	319
MUT:DNAH11:Lys3377Glu	PROT:Q96DT5	DNAH11	K	3377	E	K3377E	Likely benign	0	1	5	391
MUT:DNAH11:Lys3504Thr	PROT:Q96DT5	DNAH11	K	3504	T	K3504T	Likely benign	0	1	5	403
MUT:DNAH11:Lys3586Asn	PROT:Q96DT5	DNAH11	K	3586	N	K3586N	Benign	0	1	5	321
MUT:DNAH11:Lys3687Glu	PROT:Q96DT5	DNAH11	K	3687	E	K3687E	Benign/Likely benign	0	2	5	220
MUT:DNAH11:Lys3692Glu	PROT:Q96DT5	DNAH11	K	3692	E	K3692E	Benign	0	1	5	215
MUT:DNAH11:Lys3734Gln	PROT:Q96DT5	DNAH11	K	3734	Q	K3734Q	Benign/Likely benign	0	1	5	173
MUT:DNAH11:Lys3797Glu	PROT:Q96DT5	DNAH11	K	3797	E	K3797E	Likely benign	0	1	5	110
MUT:DNAH11:Lys3867Thr	PROT:Q96DT5	DNAH11	K	3867	T	K3867T	Likely benign	0	1	5	40
MUT:DNAH11:Lys3948Asn	PROT:Q96DT5	DNAH11	K	3948	N	K3948N	Likely benign	0	1	5	41
MUT:DNAH11:Lys3958Arg	PROT:Q96DT5	DNAH11	K	3958	R	K3958R	Benign	0	1	5	51
MUT:DNAH11:Lys431Asn	PROT:Q96DT5	DNAH11	K	431	N	K431N	Likely benign	0	1	5	18
MUT:DNAH11:Lys440Ile	PROT:Q96DT5	DNAH11	K	440	I	K440I	Benign	0	1	5	9
MUT:DNAH11:Lys4501Arg	PROT:Q96DT5	DNAH11	K	4501	R	K4501R	Benign/Likely benign	0	1	5	594
MUT:DNAH11:Lys466Thr	PROT:Q96DT5	DNAH11	K	466	T	K466T	Benign	0	1	5	17
MUT:DNAH11:Lys473Arg	PROT:Q96DT5	DNAH11	K	473	R	K473R	Benign	0	1	5	24
MUT:DNAH11:Lys486Glu	PROT:Q96DT5	DNAH11	K	486	E	K486E	Likely benign	0	1	5	37
MUT:DNAH11:Lys541Met	PROT:Q96DT5	DNAH11	K	541	M	K541M	Benign	0	1	5	92
MUT:DNAH11:Lys738Arg	PROT:Q96DT5	DNAH11	K	738	R	K738R	Benign	0	1	5	289
MUT:DNAH11:Lys832Glu	PROT:Q96DT5	DNAH11	K	832	E	K832E	Benign	0	1	5	287
MUT:DNAH11:Lys875Thr	PROT:Q96DT5	DNAH11	K	875	T	K875T	Likely benign	0	1	5	244
MUT:DNAH11:Lys896Glu	PROT:Q96DT5	DNAH11	K	896	E	K896E	Benign	0	1	5	223
MUT:DNAH11:Met1003Lys	PROT:Q96DT5	DNAH11	M	1003	K	M1003K	Benign	0	1	5	116
MUT:DNAH11:Met1003Thr	PROT:Q96DT5	DNAH11	M	1003	T	M1003T	Benign	0	1	5	116
MUT:DNAH11:Met1003Val	PROT:Q96DT5	DNAH11	M	1003	V	M1003V	Likely benign	0	1	5	116
MUT:DNAH11:Met1017Leu	PROT:Q96DT5	DNAH11	M	1017	L	M1017L	Benign	0	1	5	102
MUT:DNAH11:Met1049Ile	PROT:Q96DT5	DNAH11	M	1049	I	M1049I	Benign	0	1	5	70
MUT:DNAH11:Met1064Ile	PROT:Q96DT5	DNAH11	M	1064	I	M1064I	Likely benign	0	1	5	55
MUT:DNAH11:Met1316Val	PROT:Q96DT5	DNAH11	M	1316	V	M1316V	Benign/Likely benign	0	2	5	194
MUT:DNAH11:Met1414Arg	PROT:Q96DT5	DNAH11	M	1414	R	M1414R	Benign	0	1	5	292
MUT:DNAH11:Met1471Val	PROT:Q96DT5	DNAH11	M	1471	V	M1471V	Likely benign	0	1	5	349
MUT:DNAH11:Met1537Ile	PROT:Q96DT5	DNAH11	M	1537	I	M1537I	Likely benign	0	1	5	415
MUT:DNAH11:Met1800Ile	PROT:Q96DT5	DNAH11	M	1800	I	M1800I	Likely benign	0	1	5	678
MUT:DNAH11:Met188Thr	PROT:Q96DT5	DNAH11	M	188	T	M188T	Benign	0	1	5	261
MUT:DNAH11:Met1913Ile	PROT:Q96DT5	DNAH11	M	1913	I	M1913I	Likely benign	0	1	5	791
MUT:DNAH11:Met1995Val	PROT:Q96DT5	DNAH11	M	1995	V	M1995V	Benign	0	1	5	873
MUT:DNAH11:Met1Arg	PROT:Q96DT5	DNAH11	M	1	R	M1R	Likely pathogenic	1	1	5	448
MUT:DNAH11:Met1Leu	PROT:Q96DT5	DNAH11	M	1	L	M1L	Likely pathogenic	1	1	5	448
MUT:DNAH11:Met1Val	PROT:Q96DT5	DNAH11	M	1	V	M1V	Likely pathogenic	1	2	5	448
MUT:DNAH11:Met206Lys	PROT:Q96DT5	DNAH11	M	206	K	M206K	Likely benign	0	1	5	243
MUT:DNAH11:Met2137Thr	PROT:Q96DT5	DNAH11	M	2137	T	M2137T	Likely benign	0	1	5	849
MUT:DNAH11:Met2194Arg	PROT:Q96DT5	DNAH11	M	2194	R	M2194R	Likely benign	0	1	5	792
MUT:DNAH11:Met221Ile	PROT:Q96DT5	DNAH11	M	221	I	M221I	Benign/Likely benign	0	1	5	228
MUT:DNAH11:Met221Leu	PROT:Q96DT5	DNAH11	M	221	L	M221L	Benign/Likely benign	0	1	5	228
MUT:DNAH11:Met2265Ile	PROT:Q96DT5	DNAH11	M	2265	I	M2265I	Likely benign	0	1	5	721
MUT:DNAH11:Met2265Val	PROT:Q96DT5	DNAH11	M	2265	V	M2265V	Benign	0	1	5	721
MUT:DNAH11:Met2294Ile	PROT:Q96DT5	DNAH11	M	2294	I	M2294I	Benign	0	1	5	692
MUT:DNAH11:Met2294Val	PROT:Q96DT5	DNAH11	M	2294	V	M2294V	Benign	0	1	5	692
MUT:DNAH11:Met2473Val	PROT:Q96DT5	DNAH11	M	2473	V	M2473V	Likely benign	0	1	5	513
MUT:DNAH11:Met2496Val	PROT:Q96DT5	DNAH11	M	2496	V	M2496V	Benign/Likely benign	0	1	5	490
MUT:DNAH11:Met2580Leu	PROT:Q96DT5	DNAH11	M	2580	L	M2580L	Likely benign	0	1	5	406
MUT:DNAH11:Met2627Thr	PROT:Q96DT5	DNAH11	M	2627	T	M2627T	Benign	0	1	5	359
MUT:DNAH11:Met2693Val	PROT:Q96DT5	DNAH11	M	2693	V	M2693V	Likely benign	0	1	5	293
MUT:DNAH11:Met2694Ile	PROT:Q96DT5	DNAH11	M	2694	I	M2694I	Likely benign	0	1	5	292
MUT:DNAH11:Met2799Val	PROT:Q96DT5	DNAH11	M	2799	V	M2799V	Likely benign	0	1	5	187
MUT:DNAH11:Met2825Thr	PROT:Q96DT5	DNAH11	M	2825	T	M2825T	Benign	0	1	5	161
MUT:DNAH11:Met282Ile	PROT:Q96DT5	DNAH11	M	282	I	M282I	Likely benign	0	2	5	167
MUT:DNAH11:Met282Thr	PROT:Q96DT5	DNAH11	M	282	T	M282T	Benign	0	1	5	167
MUT:DNAH11:Met283Ile	PROT:Q96DT5	DNAH11	M	283	I	M283I	Likely benign	0	1	5	166
MUT:DNAH11:Met3045Val	PROT:Q96DT5	DNAH11	M	3045	V	M3045V	Likely benign	0	1	5	59
MUT:DNAH11:Met3223Val	PROT:Q96DT5	DNAH11	M	3223	V	M3223V	Benign	0	1	5	237
MUT:DNAH11:Met3245Ile	PROT:Q96DT5	DNAH11	M	3245	I	M3245I	Likely benign	0	1	5	259
MUT:DNAH11:Met3458Ile	PROT:Q96DT5	DNAH11	M	3458	I	M3458I	Likely benign	0	1	5	449
MUT:DNAH11:Met3458Lys	PROT:Q96DT5	DNAH11	M	3458	K	M3458K	Benign	0	1	5	449
MUT:DNAH11:Met3512Arg	PROT:Q96DT5	DNAH11	M	3512	R	M3512R	Likely benign	0	1	5	395
MUT:DNAH11:Met3837Lys	PROT:Q96DT5	DNAH11	M	3837	K	M3837K	Likely benign	0	1	5	70
MUT:DNAH11:Met3887Val	PROT:Q96DT5	DNAH11	M	3887	V	M3887V	Benign/Likely benign	0	1	5	20
MUT:DNAH11:Met3892Val	PROT:Q96DT5	DNAH11	M	3892	V	M3892V	Likely benign	0	1	5	15
MUT:DNAH11:Met4165Val	PROT:Q96DT5	DNAH11	M	4165	V	M4165V	Benign	0	2	5	258
MUT:DNAH11:Met4198Leu	PROT:Q96DT5	DNAH11	M	4198	L	M4198L	Benign	0	1	5	291
MUT:DNAH11:Met4198Thr	PROT:Q96DT5	DNAH11	M	4198	T	M4198T	Likely benign	0	1	5	291
MUT:DNAH11:Met4390Ile	PROT:Q96DT5	DNAH11	M	4390	I	M4390I	Benign	0	1	5	483
MUT:DNAH11:Met4393Ile	PROT:Q96DT5	DNAH11	M	4393	I	M4393I	Likely benign	0	1	5	486
MUT:DNAH11:Met4393Val	PROT:Q96DT5	DNAH11	M	4393	V	M4393V	Benign	0	1	5	486
MUT:DNAH11:Met512Lys	PROT:Q96DT5	DNAH11	M	512	K	M512K	Benign	0	1	5	63
MUT:DNAH11:Met512Thr	PROT:Q96DT5	DNAH11	M	512	T	M512T	Benign	0	1	5	63
MUT:DNAH11:Met635Thr	PROT:Q96DT5	DNAH11	M	635	T	M635T	Benign	0	1	5	186
MUT:DNAH11:Met635Val	PROT:Q96DT5	DNAH11	M	635	V	M635V	Likely benign	0	1	5	186
MUT:DNAH11:Met976Val	PROT:Q96DT5	DNAH11	M	976	V	M976V	Likely benign	0	1	5	143
MUT:DNAH11:Phe1131Ile	PROT:Q96DT5	DNAH11	F	1131	I	F1131I	Benign	0	1	5	9
MUT:DNAH11:Phe1138Ser	PROT:Q96DT5	DNAH11	F	1138	S	F1138S	Likely benign	0	1	5	16
MUT:DNAH11:Phe1190Leu	PROT:Q96DT5	DNAH11	F	1190	L	F1190L	Likely benign	0	1	5	68
MUT:DNAH11:Phe1265Leu	PROT:Q96DT5	DNAH11	F	1265	L	F1265L	Likely benign	0	1	5	143
MUT:DNAH11:Phe1493Leu	PROT:Q96DT5	DNAH11	F	1493	L	F1493L	Likely benign	0	1	5	371
MUT:DNAH11:Phe1515Cys	PROT:Q96DT5	DNAH11	F	1515	C	F1515C	Likely benign	0	1	5	393
MUT:DNAH11:Phe1665Leu	PROT:Q96DT5	DNAH11	F	1665	L	F1665L	Likely benign	0	1	5	543
MUT:DNAH11:Phe1689Leu	PROT:Q96DT5	DNAH11	F	1689	L	F1689L	Likely benign	0	1	5	567
MUT:DNAH11:Phe1856Leu	PROT:Q96DT5	DNAH11	F	1856	L	F1856L	Likely benign	0	1	5	734
MUT:DNAH11:Phe2238Val	PROT:Q96DT5	DNAH11	F	2238	V	F2238V	Likely benign	0	1	5	748
MUT:DNAH11:Phe2293Val	PROT:Q96DT5	DNAH11	F	2293	V	F2293V	Likely benign	0	1	5	693
MUT:DNAH11:Phe2414Leu	PROT:Q96DT5	DNAH11	F	2414	L	F2414L	Likely benign	0	1	5	572
MUT:DNAH11:Phe2430Leu	PROT:Q96DT5	DNAH11	F	2430	L	F2430L	Likely benign	0	1	5	556
MUT:DNAH11:Phe2641Ser	PROT:Q96DT5	DNAH11	F	2641	S	F2641S	Likely benign	0	1	5	345
MUT:DNAH11:Phe2697Leu	PROT:Q96DT5	DNAH11	F	2697	L	F2697L	Benign	0	1	5	289
MUT:DNAH11:Phe2789Leu	PROT:Q96DT5	DNAH11	F	2789	L	F2789L	Likely benign	0	1	5	197
MUT:DNAH11:Phe3081Val	PROT:Q96DT5	DNAH11	F	3081	V	F3081V	Likely benign	0	1	5	95
MUT:DNAH11:Phe3306Cys	PROT:Q96DT5	DNAH11	F	3306	C	F3306C	Likely benign	0	1	5	320
MUT:DNAH11:Phe3920Leu	PROT:Q96DT5	DNAH11	F	3920	L	F3920L	Benign	0	1	5	13
MUT:DNAH11:Phe3920Ser	PROT:Q96DT5	DNAH11	F	3920	S	F3920S	Benign	0	1	5	13
MUT:DNAH11:Phe3959Ser	PROT:Q96DT5	DNAH11	F	3959	S	F3959S	Likely benign	0	1	5	52
MUT:DNAH11:Phe4226Leu	PROT:Q96DT5	DNAH11	F	4226	L	F4226L	Benign	0	1	5	319
MUT:DNAH11:Phe430Leu	PROT:Q96DT5	DNAH11	F	430	L	F430L	Likely benign	0	1	5	19
MUT:DNAH11:Phe435Tyr	PROT:Q96DT5	DNAH11	F	435	Y	F435Y	Benign	0	1	5	14
MUT:DNAH11:Phe484Ser	PROT:Q96DT5	DNAH11	F	484	S	F484S	Likely benign	0	1	5	35
MUT:DNAH11:Phe540Leu	PROT:Q96DT5	DNAH11	F	540	L	F540L	Likely benign	0	1	5	91
MUT:DNAH11:Phe560Leu	PROT:Q96DT5	DNAH11	F	560	L	F560L	Benign	0	1	5	111
MUT:DNAH11:Phe575Leu	PROT:Q96DT5	DNAH11	F	575	L	F575L	Benign	0	1	5	126
MUT:DNAH11:Phe578Tyr	PROT:Q96DT5	DNAH11	F	578	Y	F578Y	Benign	0	1	5	129
MUT:DNAH11:Phe700Ser	PROT:Q96DT5	DNAH11	F	700	S	F700S	Likely benign	0	1	5	251
MUT:DNAH11:Phe709Leu	PROT:Q96DT5	DNAH11	F	709	L	F709L	Benign	0	1	5	260
MUT:DNAH11:Phe861Leu	PROT:Q96DT5	DNAH11	F	861	L	F861L	Likely benign	0	1	5	258
MUT:DNAH11:Phe895Leu	PROT:Q96DT5	DNAH11	F	895	L	F895L	Likely benign	0	1	5	224
MUT:DNAH11:Phe910Cys	PROT:Q96DT5	DNAH11	F	910	C	F910C	Benign	0	1	5	209
MUT:DNAH11:Phe929Leu	PROT:Q96DT5	DNAH11	F	929	L	F929L	Benign	0	1	5	190
MUT:DNAH11:Phe957Leu	PROT:Q96DT5	DNAH11	F	957	L	F957L	Likely benign	0	1	5	162
MUT:DNAH11:Pro119Ala	PROT:Q96DT5	DNAH11	P	119	A	P119A	Benign/Likely benign	0	1	5	330
MUT:DNAH11:Pro1219Ser	PROT:Q96DT5	DNAH11	P	1219	S	P1219S	Likely benign	0	1	5	97
MUT:DNAH11:Pro1278Leu	PROT:Q96DT5	DNAH11	P	1278	L	P1278L	Likely benign	0	1	5	156
MUT:DNAH11:Pro1311Ala	PROT:Q96DT5	DNAH11	P	1311	A	P1311A	Likely benign	0	1	5	189
MUT:DNAH11:Pro1484Thr	PROT:Q96DT5	DNAH11	P	1484	T	P1484T	Likely benign	0	1	5	362
MUT:DNAH11:Pro152Thr	PROT:Q96DT5	DNAH11	P	152	T	P152T	Likely benign	0	1	5	297
MUT:DNAH11:Pro1594Leu	PROT:Q96DT5	DNAH11	P	1594	L	P1594L	Benign	0	1	5	472
MUT:DNAH11:Pro169Ala	PROT:Q96DT5	DNAH11	P	169	A	P169A	Benign	0	1	5	280
MUT:DNAH11:Pro1729Ser	PROT:Q96DT5	DNAH11	P	1729	S	P1729S	Benign/Likely benign	0	2	5	607
MUT:DNAH11:Pro17Leu	PROT:Q96DT5	DNAH11	P	17	L	P17L	Benign	0	1	5	432
MUT:DNAH11:Pro1891Ser	PROT:Q96DT5	DNAH11	P	1891	S	P1891S	Benign/Likely benign	0	1	5	769
MUT:DNAH11:Pro1997Gln	PROT:Q96DT5	DNAH11	P	1997	Q	P1997Q	Likely benign	0	1	5	875
MUT:DNAH11:Pro1997Leu	PROT:Q96DT5	DNAH11	P	1997	L	P1997L	Benign	0	1	5	875
MUT:DNAH11:Pro213Gln	PROT:Q96DT5	DNAH11	P	213	Q	P213Q	Benign	0	1	5	236
MUT:DNAH11:Pro2149Leu	PROT:Q96DT5	DNAH11	P	2149	L	P2149L	Likely benign	0	1	5	837
MUT:DNAH11:Pro2198Arg	PROT:Q96DT5	DNAH11	P	2198	R	P2198R	Benign	0	1	5	788
MUT:DNAH11:Pro2355Thr	PROT:Q96DT5	DNAH11	P	2355	T	P2355T	Likely benign	0	1	5	631
MUT:DNAH11:Pro2463Leu	PROT:Q96DT5	DNAH11	P	2463	L	P2463L	Benign	0	1	5	523
MUT:DNAH11:Pro2505Ser	PROT:Q96DT5	DNAH11	P	2505	S	P2505S	Likely benign	0	1	5	481
MUT:DNAH11:Pro2554Thr	PROT:Q96DT5	DNAH11	P	2554	T	P2554T	Likely benign	0	1	5	432
MUT:DNAH11:Pro2626Leu	PROT:Q96DT5	DNAH11	P	2626	L	P2626L	Likely benign	0	1	5	360
MUT:DNAH11:Pro2635Ser	PROT:Q96DT5	DNAH11	P	2635	S	P2635S	Benign	0	1	5	351
MUT:DNAH11:Pro2725His	PROT:Q96DT5	DNAH11	P	2725	H	P2725H	Likely benign	0	1	5	261
MUT:DNAH11:Pro2800Leu	PROT:Q96DT5	DNAH11	P	2800	L	P2800L	Likely benign	0	1	5	186
MUT:DNAH11:Pro2847Ser	PROT:Q96DT5	DNAH11	P	2847	S	P2847S	Likely benign	0	1	5	139
MUT:DNAH11:Pro2936Ser	PROT:Q96DT5	DNAH11	P	2936	S	P2936S	Benign	0	1	5	50
MUT:DNAH11:Pro3264Ser	PROT:Q96DT5	DNAH11	P	3264	S	P3264S	Benign/Likely benign	0	1	5	278
MUT:DNAH11:Pro3549Thr	PROT:Q96DT5	DNAH11	P	3549	T	P3549T	Benign	0	1	5	358
MUT:DNAH11:Pro3590Ala	PROT:Q96DT5	DNAH11	P	3590	A	P3590A	Likely benign	0	1	5	317
MUT:DNAH11:Pro3626Gln	PROT:Q96DT5	DNAH11	P	3626	Q	P3626Q	Benign/Likely benign	0	1	5	281
MUT:DNAH11:Pro3626Ser	PROT:Q96DT5	DNAH11	P	3626	S	P3626S	Likely benign	0	1	5	281
MUT:DNAH11:Pro3727Ser	PROT:Q96DT5	DNAH11	P	3727	S	P3727S	Likely benign	0	1	5	180
MUT:DNAH11:Pro3801Arg	PROT:Q96DT5	DNAH11	P	3801	R	P3801R	Benign	0	1	5	106
MUT:DNAH11:Pro3819His	PROT:Q96DT5	DNAH11	P	3819	H	P3819H	Likely benign	0	1	5	88
MUT:DNAH11:Pro4048His	PROT:Q96DT5	DNAH11	P	4048	H	P4048H	Benign	0	1	5	141
MUT:DNAH11:Pro405Ser	PROT:Q96DT5	DNAH11	P	405	S	P405S	Likely benign	0	1	5	44
MUT:DNAH11:Pro4107Ala	PROT:Q96DT5	DNAH11	P	4107	A	P4107A	Likely benign	0	1	5	200
MUT:DNAH11:Pro4110Thr	PROT:Q96DT5	DNAH11	P	4110	T	P4110T	Likely benign	0	2	5	203
MUT:DNAH11:Pro4421Leu	PROT:Q96DT5	DNAH11	P	4421	L	P4421L	Benign/Likely benign	0	1	5	514
MUT:DNAH11:Pro4421Ser	PROT:Q96DT5	DNAH11	P	4421	S	P4421S	Benign	0	1	5	514
MUT:DNAH11:Pro4458Leu	PROT:Q96DT5	DNAH11	P	4458	L	P4458L	Pathogenic/Likely pathogenic	1	2	5	551
MUT:DNAH11:Pro452Ser	PROT:Q96DT5	DNAH11	P	452	S	P452S	Likely benign	0	1	5	3
MUT:DNAH11:Pro525Ser	PROT:Q96DT5	DNAH11	P	525	S	P525S	Benign	0	1	5	76
MUT:DNAH11:Pro629Leu	PROT:Q96DT5	DNAH11	P	629	L	P629L	Benign	0	1	5	180
MUT:DNAH11:Pro629Ser	PROT:Q96DT5	DNAH11	P	629	S	P629S	Benign/Likely benign	0	2	5	180
MUT:DNAH11:Pro663Leu	PROT:Q96DT5	DNAH11	P	663	L	P663L	Likely benign	0	1	5	214
MUT:DNAH11:Pro783Ala	PROT:Q96DT5	DNAH11	P	783	A	P783A	Benign	0	1	5	334
MUT:DNAH11:Pro851Leu	PROT:Q96DT5	DNAH11	P	851	L	P851L	Likely benign	0	1	5	268
MUT:DNAH11:Pro940Leu	PROT:Q96DT5	DNAH11	P	940	L	P940L	Benign	0	1	5	179
MUT:DNAH11:Pro953Ala	PROT:Q96DT5	DNAH11	P	953	A	P953A	Likely benign	0	1	5	166
MUT:DNAH11:Pro99Ala	PROT:Q96DT5	DNAH11	P	99	A	P99A	Likely benign	0	1	5	350
MUT:DNAH11:Ser1060Phe	PROT:Q96DT5	DNAH11	S	1060	F	S1060F	Likely benign	0	1	5	59
MUT:DNAH11:Ser1097Arg	PROT:Q96DT5	DNAH11	S	1097	R	S1097R	Likely benign	0	2	5	22
MUT:DNAH11:Ser1181Gly	PROT:Q96DT5	DNAH11	S	1181	G	S1181G	Likely benign	0	1	5	59
MUT:DNAH11:Ser1465Arg	PROT:Q96DT5	DNAH11	S	1465	R	S1465R	Benign	0	1	5	343
MUT:DNAH11:Ser1465Ile	PROT:Q96DT5	DNAH11	S	1465	I	S1465I	Likely benign	0	1	5	343
MUT:DNAH11:Ser1474Phe	PROT:Q96DT5	DNAH11	S	1474	F	S1474F	Likely benign	0	1	5	352
MUT:DNAH11:Ser1509Gly	PROT:Q96DT5	DNAH11	S	1509	G	S1509G	Likely benign	0	1	5	387
MUT:DNAH11:Ser1548Gly	PROT:Q96DT5	DNAH11	S	1548	G	S1548G	Benign	0	1	5	426
MUT:DNAH11:Ser1659Asn	PROT:Q96DT5	DNAH11	S	1659	N	S1659N	Benign	0	1	5	537
MUT:DNAH11:Ser1746Leu	PROT:Q96DT5	DNAH11	S	1746	L	S1746L	Benign	0	1	5	624
MUT:DNAH11:Ser2058Phe	PROT:Q96DT5	DNAH11	S	2058	F	S2058F	Benign	0	1	5	928
MUT:DNAH11:Ser2169Leu	PROT:Q96DT5	DNAH11	S	2169	L	S2169L	Pathogenic/Likely pathogenic	1	2	5	817
MUT:DNAH11:Ser2169Thr	PROT:Q96DT5	DNAH11	S	2169	T	S2169T	Likely benign	0	1	5	817
MUT:DNAH11:Ser2181Gly	PROT:Q96DT5	DNAH11	S	2181	G	S2181G	Likely pathogenic	1	1	5	805
MUT:DNAH11:Ser2240Tyr	PROT:Q96DT5	DNAH11	S	2240	Y	S2240Y	Likely benign	0	1	5	746
MUT:DNAH11:Ser2364Asn	PROT:Q96DT5	DNAH11	S	2364	N	S2364N	Benign	0	1	5	622
MUT:DNAH11:Ser2424Cys	PROT:Q96DT5	DNAH11	S	2424	C	S2424C	Likely benign	0	1	5	562
MUT:DNAH11:Ser2431Ile	PROT:Q96DT5	DNAH11	S	2431	I	S2431I	Benign	0	1	5	555
MUT:DNAH11:Ser2526Cys	PROT:Q96DT5	DNAH11	S	2526	C	S2526C	Likely benign	0	1	5	460
MUT:DNAH11:Ser2534Pro	PROT:Q96DT5	DNAH11	S	2534	P	S2534P	Benign	0	1	5	452
MUT:DNAH11:Ser262Pro	PROT:Q96DT5	DNAH11	S	262	P	S262P	Likely benign	0	1	5	187
MUT:DNAH11:Ser2863Thr	PROT:Q96DT5	DNAH11	S	2863	T	S2863T	Benign	0	1	5	123
MUT:DNAH11:Ser289Leu	PROT:Q96DT5	DNAH11	S	289	L	S289L	Benign	0	1	5	160
MUT:DNAH11:Ser2963Cys	PROT:Q96DT5	DNAH11	S	2963	C	S2963C	Benign	0	1	5	23
MUT:DNAH11:Ser3111Phe	PROT:Q96DT5	DNAH11	S	3111	F	S3111F	Benign	0	1	5	125
MUT:DNAH11:Ser3149Arg	PROT:Q96DT5	DNAH11	S	3149	R	S3149R	Likely benign	0	1	5	163
MUT:DNAH11:Ser3622Arg	PROT:Q96DT5	DNAH11	S	3622	R	S3622R	Benign	0	1	5	285
MUT:DNAH11:Ser3758Pro	PROT:Q96DT5	DNAH11	S	3758	P	S3758P	Benign/Likely benign	0	1	5	149
MUT:DNAH11:Ser3923Gly	PROT:Q96DT5	DNAH11	S	3923	G	S3923G	Likely benign	0	1	5	16
MUT:DNAH11:Ser3956Cys	PROT:Q96DT5	DNAH11	S	3956	C	S3956C	Benign	0	1	5	49
MUT:DNAH11:Ser4009Gly	PROT:Q96DT5	DNAH11	S	4009	G	S4009G	Benign	0	1	5	102
MUT:DNAH11:Ser4009Thr	PROT:Q96DT5	DNAH11	S	4009	T	S4009T	Likely benign	0	1	5	102
MUT:DNAH11:Ser404Leu	PROT:Q96DT5	DNAH11	S	404	L	S404L	Likely benign	0	1	5	45
MUT:DNAH11:Ser4203Gly	PROT:Q96DT5	DNAH11	S	4203	G	S4203G	Benign	0	1	5	296
MUT:DNAH11:Ser4246Cys	PROT:Q96DT5	DNAH11	S	4246	C	S4246C	Likely benign	0	1	5	339
MUT:DNAH11:Ser4276Leu	PROT:Q96DT5	DNAH11	S	4276	L	S4276L	Benign	0	1	5	369
MUT:DNAH11:Ser4279Gly	PROT:Q96DT5	DNAH11	S	4279	G	S4279G	Benign	0	1	5	372
MUT:DNAH11:Ser4309Gly	PROT:Q96DT5	DNAH11	S	4309	G	S4309G	Benign	0	1	5	402
MUT:DNAH11:Ser4337Asn	PROT:Q96DT5	DNAH11	S	4337	N	S4337N	Benign	0	1	5	430
MUT:DNAH11:Ser4377Phe	PROT:Q96DT5	DNAH11	S	4377	F	S4377F	Likely pathogenic	1	1	5	470
MUT:DNAH11:Ser443Asn	PROT:Q96DT5	DNAH11	S	443	N	S443N	Benign	0	1	5	6
MUT:DNAH11:Ser593Asn	PROT:Q96DT5	DNAH11	S	593	N	S593N	Benign/Likely benign	0	1	5	144
MUT:DNAH11:Ser593Gly	PROT:Q96DT5	DNAH11	S	593	G	S593G	Benign	0	1	5	144
MUT:DNAH11:Ser593Thr	PROT:Q96DT5	DNAH11	S	593	T	S593T	Benign	0	1	5	144
MUT:DNAH11:Ser654Cys	PROT:Q96DT5	DNAH11	S	654	C	S654C	Benign/Likely benign	0	2	5	205
MUT:DNAH11:Ser654Phe	PROT:Q96DT5	DNAH11	S	654	F	S654F	Benign	0	1	5	205
MUT:DNAH11:Ser684Arg	PROT:Q96DT5	DNAH11	S	684	R	S684R	Benign	0	1	5	235
MUT:DNAH11:Ser78Asn	PROT:Q96DT5	DNAH11	S	78	N	S78N	Likely benign	0	1	5	371
MUT:DNAH11:Thr1033Ala	PROT:Q96DT5	DNAH11	T	1033	A	T1033A	Likely benign	0	1	5	86
MUT:DNAH11:Thr1033Ile	PROT:Q96DT5	DNAH11	T	1033	I	T1033I	Likely benign	0	1	5	86
MUT:DNAH11:Thr1038Ala	PROT:Q96DT5	DNAH11	T	1038	A	T1038A	Benign	0	2	5	81
MUT:DNAH11:Thr1153Ser	PROT:Q96DT5	DNAH11	T	1153	S	T1153S	Likely benign	0	1	5	31
MUT:DNAH11:Thr1186Ala	PROT:Q96DT5	DNAH11	T	1186	A	T1186A	Likely benign	0	1	5	64
MUT:DNAH11:Thr1198Ala	PROT:Q96DT5	DNAH11	T	1198	A	T1198A	Likely benign	0	1	5	76
MUT:DNAH11:Thr1381Arg	PROT:Q96DT5	DNAH11	T	1381	R	T1381R	Likely benign	0	1	5	259
MUT:DNAH11:Thr1381Lys	PROT:Q96DT5	DNAH11	T	1381	K	T1381K	Benign	0	1	5	259
MUT:DNAH11:Thr1398Arg	PROT:Q96DT5	DNAH11	T	1398	R	T1398R	Benign	0	1	5	276
MUT:DNAH11:Thr1428Ala	PROT:Q96DT5	DNAH11	T	1428	A	T1428A	Benign/Likely benign	0	2	5	306
MUT:DNAH11:Thr1457Ile	PROT:Q96DT5	DNAH11	T	1457	I	T1457I	Benign/Likely benign	0	1	5	335
MUT:DNAH11:Thr1457Ser	PROT:Q96DT5	DNAH11	T	1457	S	T1457S	Likely benign	0	1	5	335
MUT:DNAH11:Thr1462Asn	PROT:Q96DT5	DNAH11	T	1462	N	T1462N	Likely benign	0	1	5	340
MUT:DNAH11:Thr1535Asn	PROT:Q96DT5	DNAH11	T	1535	N	T1535N	Benign	0	1	5	413
MUT:DNAH11:Thr1542Ile	PROT:Q96DT5	DNAH11	T	1542	I	T1542I	Likely benign	0	1	5	420
MUT:DNAH11:Thr1650Ile	PROT:Q96DT5	DNAH11	T	1650	I	T1650I	Likely benign	0	1	5	528
MUT:DNAH11:Thr1804Ala	PROT:Q96DT5	DNAH11	T	1804	A	T1804A	Benign	0	1	5	682
MUT:DNAH11:Thr1880Asn	PROT:Q96DT5	DNAH11	T	1880	N	T1880N	Likely pathogenic	1	1	5	758
MUT:DNAH11:Thr18Ile	PROT:Q96DT5	DNAH11	T	18	I	T18I	Benign	0	2	5	431
MUT:DNAH11:Thr2048Met	PROT:Q96DT5	DNAH11	T	2048	M	T2048M	Benign/Likely benign	0	1	5	926
MUT:DNAH11:Thr2142Ile	PROT:Q96DT5	DNAH11	T	2142	I	T2142I	Likely benign	0	1	5	844
MUT:DNAH11:Thr2209Lys	PROT:Q96DT5	DNAH11	T	2209	K	T2209K	Likely benign	0	1	5	777
MUT:DNAH11:Thr2291Ile	PROT:Q96DT5	DNAH11	T	2291	I	T2291I	Likely benign	0	1	5	695
MUT:DNAH11:Thr2486Ile	PROT:Q96DT5	DNAH11	T	2486	I	T2486I	Likely benign	0	1	5	500
MUT:DNAH11:Thr2487Ala	PROT:Q96DT5	DNAH11	T	2487	A	T2487A	Benign	0	1	5	499
MUT:DNAH11:Thr2543Ala	PROT:Q96DT5	DNAH11	T	2543	A	T2543A	Benign	0	1	5	443
MUT:DNAH11:Thr2809Met	PROT:Q96DT5	DNAH11	T	2809	M	T2809M	Benign	0	1	5	177
MUT:DNAH11:Thr2880Ser	PROT:Q96DT5	DNAH11	T	2880	S	T2880S	Likely benign	0	1	5	106
MUT:DNAH11:Thr3030Ala	PROT:Q96DT5	DNAH11	T	3030	A	T3030A	Likely benign	0	1	5	44
MUT:DNAH11:Thr3051Ala	PROT:Q96DT5	DNAH11	T	3051	A	T3051A	Likely benign	0	1	5	65
MUT:DNAH11:Thr308Lys	PROT:Q96DT5	DNAH11	T	308	K	T308K	Benign	0	1	5	141
MUT:DNAH11:Thr309Ala	PROT:Q96DT5	DNAH11	T	309	A	T309A	Benign/Likely benign	0	1	5	140
MUT:DNAH11:Thr3145Met	PROT:Q96DT5	DNAH11	T	3145	M	T3145M	Benign	0	1	5	159
MUT:DNAH11:Thr3163Ala	PROT:Q96DT5	DNAH11	T	3163	A	T3163A	Benign/Likely benign	0	1	5	177
MUT:DNAH11:Thr317Ser	PROT:Q96DT5	DNAH11	T	317	S	T317S	Likely benign	0	1	5	132
MUT:DNAH11:Thr3191Ala	PROT:Q96DT5	DNAH11	T	3191	A	T3191A	Benign	0	1	5	205
MUT:DNAH11:Thr3216Ala	PROT:Q96DT5	DNAH11	T	3216	A	T3216A	Likely benign	0	1	5	230
MUT:DNAH11:Thr3288Ser	PROT:Q96DT5	DNAH11	T	3288	S	T3288S	Likely benign	0	1	5	302
MUT:DNAH11:Thr3331Ile	PROT:Q96DT5	DNAH11	T	3331	I	T3331I	Benign	0	1	5	345
MUT:DNAH11:Thr3414Met	PROT:Q96DT5	DNAH11	T	3414	M	T3414M	Benign	0	1	5	428
MUT:DNAH11:Thr3450Ser	PROT:Q96DT5	DNAH11	T	3450	S	T3450S	Benign	0	1	5	457
MUT:DNAH11:Thr3460Lys	PROT:Q96DT5	DNAH11	T	3460	K	T3460K	Likely benign	0	1	5	447
MUT:DNAH11:Thr3464Ala	PROT:Q96DT5	DNAH11	T	3464	A	T3464A	Benign	0	1	5	443
MUT:DNAH11:Thr3464Ile	PROT:Q96DT5	DNAH11	T	3464	I	T3464I	Benign/Likely benign	0	2	5	443
MUT:DNAH11:Thr3517Arg	PROT:Q96DT5	DNAH11	T	3517	R	T3517R	Benign	0	1	5	390
MUT:DNAH11:Thr3606Ile	PROT:Q96DT5	DNAH11	T	3606	I	T3606I	Likely benign	0	1	5	301
MUT:DNAH11:Thr3668Ile	PROT:Q96DT5	DNAH11	T	3668	I	T3668I	Likely benign	0	1	5	239
MUT:DNAH11:Thr380Ile	PROT:Q96DT5	DNAH11	T	380	I	T380I	Benign	0	1	5	69
MUT:DNAH11:Thr3893Lys	PROT:Q96DT5	DNAH11	T	3893	K	T3893K	Likely benign	0	1	5	14
MUT:DNAH11:Thr3912Ile	PROT:Q96DT5	DNAH11	T	3912	I	T3912I	Benign	0	1	5	5
MUT:DNAH11:Thr3970Met	PROT:Q96DT5	DNAH11	T	3970	M	T3970M	Benign	0	1	5	63
MUT:DNAH11:Thr400Ile	PROT:Q96DT5	DNAH11	T	400	I	T400I	Benign/Likely benign	0	1	5	49
MUT:DNAH11:Thr4027Ile	PROT:Q96DT5	DNAH11	T	4027	I	T4027I	Likely benign	0	1	5	120
MUT:DNAH11:Thr4050Ala	PROT:Q96DT5	DNAH11	T	4050	A	T4050A	Benign	0	1	5	143
MUT:DNAH11:Thr4170Ile	PROT:Q96DT5	DNAH11	T	4170	I	T4170I	Benign/Likely benign	0	2	5	263
MUT:DNAH11:Thr4224Asn	PROT:Q96DT5	DNAH11	T	4224	N	T4224N	Benign	0	1	5	317
MUT:DNAH11:Thr4363Ile	PROT:Q96DT5	DNAH11	T	4363	I	T4363I	Benign	0	1	5	456
MUT:DNAH11:Thr4392Arg	PROT:Q96DT5	DNAH11	T	4392	R	T4392R	Likely benign	0	1	5	485
MUT:DNAH11:Thr4404Met	PROT:Q96DT5	DNAH11	T	4404	M	T4404M	Benign	0	1	5	497
MUT:DNAH11:Thr4411Ile	PROT:Q96DT5	DNAH11	T	4411	I	T4411I	Benign	0	1	5	504
MUT:DNAH11:Thr480Ala	PROT:Q96DT5	DNAH11	T	480	A	T480A	Likely benign	0	1	5	31
MUT:DNAH11:Thr529Ser	PROT:Q96DT5	DNAH11	T	529	S	T529S	Benign/Likely benign	0	1	5	80
MUT:DNAH11:Thr544Ile	PROT:Q96DT5	DNAH11	T	544	I	T544I	Likely benign	0	1	5	95
MUT:DNAH11:Thr776Met	PROT:Q96DT5	DNAH11	T	776	M	T776M	Benign	0	1	5	327
MUT:DNAH11:Thr797Arg	PROT:Q96DT5	DNAH11	T	797	R	T797R	Likely benign	0	1	5	322
MUT:DNAH11:Thr992Ala	PROT:Q96DT5	DNAH11	T	992	A	T992A	Likely benign	0	1	5	127
MUT:DNAH11:Trp1368Leu	PROT:Q96DT5	DNAH11	W	1368	L	W1368L	Benign	0	1	5	246
MUT:DNAH11:Trp1837Cys	PROT:Q96DT5	DNAH11	W	1837	C	W1837C	Likely benign	0	1	5	715
MUT:DNAH11:Trp1941Ser	PROT:Q96DT5	DNAH11	W	1941	S	W1941S	Likely benign	0	1	5	819
MUT:DNAH11:Trp2255Arg	PROT:Q96DT5	DNAH11	W	2255	R	W2255R	Likely pathogenic	1	1	5	731
MUT:DNAH11:Trp2433Cys	PROT:Q96DT5	DNAH11	W	2433	C	W2433C	Benign	0	1	5	553
MUT:DNAH11:Trp3299Ser	PROT:Q96DT5	DNAH11	W	3299	S	W3299S	Pathogenic	1	1	5	313
MUT:DNAH11:Trp3505Cys	PROT:Q96DT5	DNAH11	W	3505	C	W3505C	Likely benign	0	1	5	402
MUT:DNAH11:Trp453Leu	PROT:Q96DT5	DNAH11	W	453	L	W453L	Benign	0	1	5	4
MUT:DNAH11:Tyr1055Cys	PROT:Q96DT5	DNAH11	Y	1055	C	Y1055C	Likely benign	0	1	5	64
MUT:DNAH11:Tyr1212His	PROT:Q96DT5	DNAH11	Y	1212	H	Y1212H	Benign	0	1	5	90
MUT:DNAH11:Tyr1268Cys	PROT:Q96DT5	DNAH11	Y	1268	C	Y1268C	Benign	0	1	5	146
MUT:DNAH11:Tyr1268His	PROT:Q96DT5	DNAH11	Y	1268	H	Y1268H	Likely benign	0	1	5	146
MUT:DNAH11:Tyr1279His	PROT:Q96DT5	DNAH11	Y	1279	H	Y1279H	Likely benign	0	1	5	157
MUT:DNAH11:Tyr1335Asn	PROT:Q96DT5	DNAH11	Y	1335	N	Y1335N	Likely benign	0	1	5	213
MUT:DNAH11:Tyr1479Cys	PROT:Q96DT5	DNAH11	Y	1479	C	Y1479C	Benign	0	1	5	357
MUT:DNAH11:Tyr1511Cys	PROT:Q96DT5	DNAH11	Y	1511	C	Y1511C	Likely benign	0	1	5	389
MUT:DNAH11:Tyr190Phe	PROT:Q96DT5	DNAH11	Y	190	F	Y190F	Likely benign	0	1	5	259
MUT:DNAH11:Tyr1915Cys	PROT:Q96DT5	DNAH11	Y	1915	C	Y1915C	Likely benign	0	1	5	793
MUT:DNAH11:Tyr200Cys	PROT:Q96DT5	DNAH11	Y	200	C	Y200C	Benign	0	1	5	249
MUT:DNAH11:Tyr2233Cys	PROT:Q96DT5	DNAH11	Y	2233	C	Y2233C	Benign/Likely benign	0	1	5	753
MUT:DNAH11:Tyr2405Cys	PROT:Q96DT5	DNAH11	Y	2405	C	Y2405C	Benign	0	1	5	581
MUT:DNAH11:Tyr2563Cys	PROT:Q96DT5	DNAH11	Y	2563	C	Y2563C	Likely benign	0	1	5	423
MUT:DNAH11:Tyr2586His	PROT:Q96DT5	DNAH11	Y	2586	H	Y2586H	Benign/Likely benign	0	1	5	400
MUT:DNAH11:Tyr2885Phe	PROT:Q96DT5	DNAH11	Y	2885	F	Y2885F	Likely benign	0	1	5	101
MUT:DNAH11:Tyr314Cys	PROT:Q96DT5	DNAH11	Y	314	C	Y314C	Benign	0	1	5	135
MUT:DNAH11:Tyr3258Cys	PROT:Q96DT5	DNAH11	Y	3258	C	Y3258C	Benign/Likely benign	0	2	5	272
MUT:DNAH11:Tyr3258His	PROT:Q96DT5	DNAH11	Y	3258	H	Y3258H	Likely benign	0	1	5	272
MUT:DNAH11:Tyr3258Phe	PROT:Q96DT5	DNAH11	Y	3258	F	Y3258F	Benign	0	1	5	272
MUT:DNAH11:Tyr3275Cys	PROT:Q96DT5	DNAH11	Y	3275	C	Y3275C	Likely benign	0	1	5	289
MUT:DNAH11:Tyr3307Cys	PROT:Q96DT5	DNAH11	Y	3307	C	Y3307C	Benign	0	1	5	321
MUT:DNAH11:Tyr3648Cys	PROT:Q96DT5	DNAH11	Y	3648	C	Y3648C	Benign	0	1	5	259
MUT:DNAH11:Tyr4016His	PROT:Q96DT5	DNAH11	Y	4016	H	Y4016H	Likely benign	0	1	5	109
MUT:DNAH11:Tyr4121His	PROT:Q96DT5	DNAH11	Y	4121	H	Y4121H	Likely benign	0	1	5	214
MUT:DNAH11:Tyr4185His	PROT:Q96DT5	DNAH11	Y	4185	H	Y4185H	Benign	0	1	5	278
MUT:DNAH11:Tyr4191Phe	PROT:Q96DT5	DNAH11	Y	4191	F	Y4191F	Likely benign	0	1	5	284
MUT:DNAH11:Tyr592Cys	PROT:Q96DT5	DNAH11	Y	592	C	Y592C	Likely benign	0	1	5	143
MUT:DNAH11:Tyr687Cys	PROT:Q96DT5	DNAH11	Y	687	C	Y687C	Benign	0	1	5	238
MUT:DNAH11:Tyr770His	PROT:Q96DT5	DNAH11	Y	770	H	Y770H	Likely benign	0	1	5	321
MUT:DNAH11:Tyr970Cys	PROT:Q96DT5	DNAH11	Y	970	C	Y970C	Benign	0	1	5	149
MUT:DNAH11:Val1023Ala	PROT:Q96DT5	DNAH11	V	1023	A	V1023A	Benign/Likely benign	0	2	5	96
MUT:DNAH11:Val1027Ile	PROT:Q96DT5	DNAH11	V	1027	I	V1027I	Likely benign	0	1	5	92
MUT:DNAH11:Val103Met	PROT:Q96DT5	DNAH11	V	103	M	V103M	Benign	0	1	5	346
MUT:DNAH11:Val1170Ala	PROT:Q96DT5	DNAH11	V	1170	A	V1170A	Likely benign	0	1	5	48
MUT:DNAH11:Val1174Glu	PROT:Q96DT5	DNAH11	V	1174	E	V1174E	Benign	0	1	5	52
MUT:DNAH11:Val1179Ile	PROT:Q96DT5	DNAH11	V	1179	I	V1179I	Likely benign	0	1	5	57
MUT:DNAH11:Val1244Ile	PROT:Q96DT5	DNAH11	V	1244	I	V1244I	Likely benign	0	1	5	122
MUT:DNAH11:Val1374Ile	PROT:Q96DT5	DNAH11	V	1374	I	V1374I	Likely benign	0	1	5	252
MUT:DNAH11:Val1376Ile	PROT:Q96DT5	DNAH11	V	1376	I	V1376I	Benign	0	1	5	254
MUT:DNAH11:Val1444Ala	PROT:Q96DT5	DNAH11	V	1444	A	V1444A	Likely benign	0	1	5	322
MUT:DNAH11:Val1452Ala	PROT:Q96DT5	DNAH11	V	1452	A	V1452A	Benign	0	1	5	330
MUT:DNAH11:Val1477Ala	PROT:Q96DT5	DNAH11	V	1477	A	V1477A	Benign	0	3	5	355
MUT:DNAH11:Val159Ala	PROT:Q96DT5	DNAH11	V	159	A	V159A	Likely benign	0	1	5	290
MUT:DNAH11:Val1631Ile	PROT:Q96DT5	DNAH11	V	1631	I	V1631I	Benign/Likely benign	0	1	5	509
MUT:DNAH11:Val170Ile	PROT:Q96DT5	DNAH11	V	170	I	V170I	Benign	0	1	5	279
MUT:DNAH11:Val170Phe	PROT:Q96DT5	DNAH11	V	170	F	V170F	Likely benign	0	1	5	279
MUT:DNAH11:Val1741Phe	PROT:Q96DT5	DNAH11	V	1741	F	V1741F	Benign	0	1	5	619
MUT:DNAH11:Val1813Leu	PROT:Q96DT5	DNAH11	V	1813	L	V1813L	Likely benign	0	1	5	691
MUT:DNAH11:Val1936Leu	PROT:Q96DT5	DNAH11	V	1936	L	V1936L	Likely benign	0	1	5	814
MUT:DNAH11:Val2112Leu	PROT:Q96DT5	DNAH11	V	2112	L	V2112L	Benign	0	1	5	874
MUT:DNAH11:Val2112Met	PROT:Q96DT5	DNAH11	V	2112	M	V2112M	Likely benign	0	1	5	874
MUT:DNAH11:Val2138Ile	PROT:Q96DT5	DNAH11	V	2138	I	V2138I	Benign	0	1	5	848
MUT:DNAH11:Val217Ile	PROT:Q96DT5	DNAH11	V	217	I	V217I	Likely benign	0	1	5	232
MUT:DNAH11:Val2199Ile	PROT:Q96DT5	DNAH11	V	2199	I	V2199I	Benign	0	1	5	787
MUT:DNAH11:Val2311Leu	PROT:Q96DT5	DNAH11	V	2311	L	V2311L	Likely benign	0	1	5	675
MUT:DNAH11:Val2393Ile	PROT:Q96DT5	DNAH11	V	2393	I	V2393I	Benign	0	1	5	593
MUT:DNAH11:Val2482Ile	PROT:Q96DT5	DNAH11	V	2482	I	V2482I	Likely benign	0	1	5	504
MUT:DNAH11:Val2509Ala	PROT:Q96DT5	DNAH11	V	2509	A	V2509A	Likely benign	0	1	5	477
MUT:DNAH11:Val2518Ile	PROT:Q96DT5	DNAH11	V	2518	I	V2518I	Benign	0	1	5	468
MUT:DNAH11:Val2520Ile	PROT:Q96DT5	DNAH11	V	2520	I	V2520I	Benign	0	1	5	466
MUT:DNAH11:Val2583Gly	PROT:Q96DT5	DNAH11	V	2583	G	V2583G	Likely benign	0	1	5	403
MUT:DNAH11:Val2589Ile	PROT:Q96DT5	DNAH11	V	2589	I	V2589I	Benign/Likely benign	0	1	5	397
MUT:DNAH11:Val2643Ala	PROT:Q96DT5	DNAH11	V	2643	A	V2643A	Likely benign	0	1	5	343
MUT:DNAH11:Val2716Ile	PROT:Q96DT5	DNAH11	V	2716	I	V2716I	Benign/Likely benign	0	1	5	270
MUT:DNAH11:Val2828Leu	PROT:Q96DT5	DNAH11	V	2828	L	V2828L	Benign	0	1	5	158
MUT:DNAH11:Val2854Ala	PROT:Q96DT5	DNAH11	V	2854	A	V2854A	Likely benign	0	1	5	132
MUT:DNAH11:Val2856Ala	PROT:Q96DT5	DNAH11	V	2856	A	V2856A	Benign	0	1	5	130
MUT:DNAH11:Val2876Ala	PROT:Q96DT5	DNAH11	V	2876	A	V2876A	Benign	0	1	5	110
MUT:DNAH11:Val2924Leu	PROT:Q96DT5	DNAH11	V	2924	L	V2924L	Likely benign	0	1	5	62
MUT:DNAH11:Val2924Met	PROT:Q96DT5	DNAH11	V	2924	M	V2924M	Likely benign	0	1	5	62
MUT:DNAH11:Val3052Ile	PROT:Q96DT5	DNAH11	V	3052	I	V3052I	Benign	0	1	5	66
MUT:DNAH11:Val30Met	PROT:Q96DT5	DNAH11	V	30	M	V30M	Benign	0	1	5	419
MUT:DNAH11:Val3222Ala	PROT:Q96DT5	DNAH11	V	3222	A	V3222A	Benign	0	1	5	236
MUT:DNAH11:Val3224Leu	PROT:Q96DT5	DNAH11	V	3224	L	V3224L	Likely benign	0	1	5	238
MUT:DNAH11:Val3300Ile	PROT:Q96DT5	DNAH11	V	3300	I	V3300I	Likely benign	0	1	5	314
MUT:DNAH11:Val335Met	PROT:Q96DT5	DNAH11	V	335	M	V335M	Likely benign	0	1	5	114
MUT:DNAH11:Val33Leu	PROT:Q96DT5	DNAH11	V	33	L	V33L	Benign	0	1	5	416
MUT:DNAH11:Val3418Leu	PROT:Q96DT5	DNAH11	V	3418	L	V3418L	Likely benign	0	1	5	432
MUT:DNAH11:Val3421Ile	PROT:Q96DT5	DNAH11	V	3421	I	V3421I	Benign	0	1	5	435
MUT:DNAH11:Val3438Ile	PROT:Q96DT5	DNAH11	V	3438	I	V3438I	Benign	0	1	5	452
MUT:DNAH11:Val3438Phe	PROT:Q96DT5	DNAH11	V	3438	F	V3438F	Likely benign	0	1	5	452
MUT:DNAH11:Val3495Met	PROT:Q96DT5	DNAH11	V	3495	M	V3495M	Benign	0	1	5	412
MUT:DNAH11:Val3550Leu	PROT:Q96DT5	DNAH11	V	3550	L	V3550L	Likely benign	0	1	5	357
MUT:DNAH11:Val3681Met	PROT:Q96DT5	DNAH11	V	3681	M	V3681M	Likely benign	0	1	5	226
MUT:DNAH11:Val3708Leu	PROT:Q96DT5	DNAH11	V	3708	L	V3708L	Benign	0	2	5	199
MUT:DNAH11:Val3718Phe	PROT:Q96DT5	DNAH11	V	3718	F	V3718F	Likely benign	0	1	5	189
MUT:DNAH11:Val3738Met	PROT:Q96DT5	DNAH11	V	3738	M	V3738M	Likely benign	0	1	5	169
MUT:DNAH11:Val3858Ile	PROT:Q96DT5	DNAH11	V	3858	I	V3858I	Likely benign	0	1	5	49
MUT:DNAH11:Val386Phe	PROT:Q96DT5	DNAH11	V	386	F	V386F	Benign	0	1	5	63
MUT:DNAH11:Val4220Gly	PROT:Q96DT5	DNAH11	V	4220	G	V4220G	Likely benign	0	1	5	313
MUT:DNAH11:Val422Met	PROT:Q96DT5	DNAH11	V	422	M	V422M	Benign	0	1	5	27
MUT:DNAH11:Val4410Ala	PROT:Q96DT5	DNAH11	V	4410	A	V4410A	Likely benign	0	1	5	503
MUT:DNAH11:Val4467Met	PROT:Q96DT5	DNAH11	V	4467	M	V4467M	Benign/Likely benign	0	2	5	560
MUT:DNAH11:Val460Met	PROT:Q96DT5	DNAH11	V	460	M	V460M	Likely benign	0	1	5	11
MUT:DNAH11:Val767Met	PROT:Q96DT5	DNAH11	V	767	M	V767M	Benign	0	1	5	318
MUT:DNAH11:Val848Met	PROT:Q96DT5	DNAH11	V	848	M	V848M	Benign/Likely benign	0	2	5	271
MUT:DNAH12:Pro1389Leu	PROT:Q6ZR08	DNAH12	P	1389	L	P1389L	Pathogenic	1	1	1	1140
MUT:DNAH3:Arg3434Gln	PROT:Q8TD57	DNAH3	R	3434	Q	R3434Q	Likely pathogenic	1	1	5	430
MUT:DNAH3:Gly1669Ser	PROT:Q8TD57	DNAH3	G	1669	S	G1669S	Pathogenic	1	1	5	145
MUT:DNAH3:Phe2279Leu	PROT:Q8TD57	DNAH3	F	2279	L	F2279L	Likely pathogenic	1	1	5	642
MUT:DNAH5:Ala1067Val	PROT:Q8TE73	DNAH5	A	1067	V	A1067V	Likely benign	0	1	20	9
MUT:DNAH5:Ala1185Gly	PROT:Q8TE73	DNAH5	A	1185	G	A1185G	Likely benign	0	1	20	127
MUT:DNAH5:Ala1200Thr	PROT:Q8TE73	DNAH5	A	1200	T	A1200T	Likely pathogenic	1	1	20	142
MUT:DNAH5:Ala1205Thr	PROT:Q8TE73	DNAH5	A	1205	T	A1205T	Likely benign	0	1	20	147
MUT:DNAH5:Ala1259Val	PROT:Q8TE73	DNAH5	A	1259	V	A1259V	Benign	0	1	20	201
MUT:DNAH5:Ala1740Ser	PROT:Q8TE73	DNAH5	A	1740	S	A1740S	Likely benign	0	1	20	203
MUT:DNAH5:Ala1849Gly	PROT:Q8TE73	DNAH5	A	1849	G	A1849G	Likely benign	0	1	20	312
MUT:DNAH5:Ala192Thr	PROT:Q8TE73	DNAH5	A	192	T	A192T	Likely benign	0	2	20	118
MUT:DNAH5:Ala1982Thr	PROT:Q8TE73	DNAH5	A	1982	T	A1982T	Benign/Likely benign	0	2	20	445
MUT:DNAH5:Ala2233Thr	PROT:Q8TE73	DNAH5	A	2233	T	A2233T	Likely benign	0	1	20	696
MUT:DNAH5:Ala2327Glu	PROT:Q8TE73	DNAH5	A	2327	E	A2327E	Likely benign	0	1	20	637
MUT:DNAH5:Ala2452Val	PROT:Q8TE73	DNAH5	A	2452	V	A2452V	Likely benign	0	1	20	512
MUT:DNAH5:Ala2487Ser	PROT:Q8TE73	DNAH5	A	2487	S	A2487S	Likely benign	0	1	20	477
MUT:DNAH5:Ala2495Val	PROT:Q8TE73	DNAH5	A	2495	V	A2495V	Benign	0	1	20	469
MUT:DNAH5:Ala2580Thr	PROT:Q8TE73	DNAH5	A	2580	T	A2580T	Likely benign	0	1	20	384
MUT:DNAH5:Ala278Val	PROT:Q8TE73	DNAH5	A	278	V	A278V	Likely benign	0	1	20	32
MUT:DNAH5:Ala285Val	PROT:Q8TE73	DNAH5	A	285	V	A285V	Likely benign	0	1	20	25
MUT:DNAH5:Ala2924Thr	PROT:Q8TE73	DNAH5	A	2924	T	A2924T	Likely benign	0	1	20	40
MUT:DNAH5:Ala3053Thr	PROT:Q8TE73	DNAH5	A	3053	T	A3053T	Likely benign	0	1	20	89
MUT:DNAH5:Ala3226Val	PROT:Q8TE73	DNAH5	A	3226	V	A3226V	Likely benign	0	2	20	262
MUT:DNAH5:Ala3286Thr	PROT:Q8TE73	DNAH5	A	3286	T	A3286T	Likely benign	0	1	20	202
MUT:DNAH5:Ala369Thr	PROT:Q8TE73	DNAH5	A	369	T	A369T	Likely benign	0	1	20	49
MUT:DNAH5:Ala3986Val	PROT:Q8TE73	DNAH5	A	3986	V	A3986V	Likely benign	0	1	20	23
MUT:DNAH5:Ala4134Val	PROT:Q8TE73	DNAH5	A	4134	V	A4134V	Benign	0	2	20	122
MUT:DNAH5:Ala4187Thr	PROT:Q8TE73	DNAH5	A	4187	T	A4187T	Likely benign	0	1	20	69
MUT:DNAH5:Ala4203Val	PROT:Q8TE73	DNAH5	A	4203	V	A4203V	Likely benign	0	1	20	53
MUT:DNAH5:Ala4354Ser	PROT:Q8TE73	DNAH5	A	4354	S	A4354S	Likely benign	0	1	20	3
MUT:DNAH5:Ala4354Val	PROT:Q8TE73	DNAH5	A	4354	V	A4354V	Likely benign	0	1	20	3
MUT:DNAH5:Ala4600Ser	PROT:Q8TE73	DNAH5	A	4600	S	A4600S	Likely benign	0	1	20	45
MUT:DNAH5:Ala516Val	PROT:Q8TE73	DNAH5	A	516	V	A516V	Likely benign	0	1	20	196
MUT:DNAH5:Ala58Asp	PROT:Q8TE73	DNAH5	A	58	D	A58D	Likely benign	0	1	20	35
MUT:DNAH5:Ala58Thr	PROT:Q8TE73	DNAH5	A	58	T	A58T	Likely benign	0	1	20	35
MUT:DNAH5:Ala955Thr	PROT:Q8TE73	DNAH5	A	955	T	A955T	Likely benign	0	1	20	103
MUT:DNAH5:Arg1143Cys	PROT:Q8TE73	DNAH5	R	1143	C	R1143C	Likely benign	0	1	20	85
MUT:DNAH5:Arg1226Trp	PROT:Q8TE73	DNAH5	R	1226	W	R1226W	Benign	0	1	20	168
MUT:DNAH5:Arg1254Gln	PROT:Q8TE73	DNAH5	R	1254	Q	R1254Q	Likely benign	0	1	20	196
MUT:DNAH5:Arg1380Gln	PROT:Q8TE73	DNAH5	R	1380	Q	R1380Q	Likely benign	0	1	20	157
MUT:DNAH5:Arg1380Trp	PROT:Q8TE73	DNAH5	R	1380	W	R1380W	Likely benign	0	1	20	157
MUT:DNAH5:Arg1458Gln	PROT:Q8TE73	DNAH5	R	1458	Q	R1458Q	Benign/Likely benign	0	2	20	79
MUT:DNAH5:Arg1668Gln	PROT:Q8TE73	DNAH5	R	1668	Q	R1668Q	Likely benign	0	1	20	131
MUT:DNAH5:Arg1716Leu	PROT:Q8TE73	DNAH5	R	1716	L	R1716L	Pathogenic	1	1	20	179
MUT:DNAH5:Arg1716Pro	PROT:Q8TE73	DNAH5	R	1716	P	R1716P	Pathogenic/Likely pathogenic	1	2	20	179
MUT:DNAH5:Arg1716Trp	PROT:Q8TE73	DNAH5	R	1716	W	R1716W	Pathogenic	1	1	20	179
MUT:DNAH5:Arg1761Gly	PROT:Q8TE73	DNAH5	R	1761	G	R1761G	Benign/Likely benign	0	2	20	224
MUT:DNAH5:Arg1883Gln	PROT:Q8TE73	DNAH5	R	1883	Q	R1883Q	Likely benign	0	1	20	346
MUT:DNAH5:Arg196Cys	PROT:Q8TE73	DNAH5	R	196	C	R196C	Likely benign	0	1	20	114
MUT:DNAH5:Arg196His	PROT:Q8TE73	DNAH5	R	196	H	R196H	Likely benign	0	1	20	114
MUT:DNAH5:Arg2102Cys	PROT:Q8TE73	DNAH5	R	2102	C	R2102C	Pathogenic/Likely pathogenic	1	2	20	565
MUT:DNAH5:Arg2116Lys	PROT:Q8TE73	DNAH5	R	2116	K	R2116K	Likely benign	0	1	20	579
MUT:DNAH5:Arg2163Trp	PROT:Q8TE73	DNAH5	R	2163	W	R2163W	Likely benign	0	1	20	626
MUT:DNAH5:Arg2183Cys	PROT:Q8TE73	DNAH5	R	2183	C	R2183C	Likely benign	0	1	20	646
MUT:DNAH5:Arg2183His	PROT:Q8TE73	DNAH5	R	2183	H	R2183H	Likely benign	0	1	20	646
MUT:DNAH5:Arg2186Gln	PROT:Q8TE73	DNAH5	R	2186	Q	R2186Q	Likely benign	0	1	20	649
MUT:DNAH5:Arg2287Gln	PROT:Q8TE73	DNAH5	R	2287	Q	R2287Q	Likely benign	0	1	20	677
MUT:DNAH5:Arg2287Trp	PROT:Q8TE73	DNAH5	R	2287	W	R2287W	Likely benign	0	1	20	677
MUT:DNAH5:Arg2304Gln	PROT:Q8TE73	DNAH5	R	2304	Q	R2304Q	Likely benign	0	1	20	660
MUT:DNAH5:Arg2304Trp	PROT:Q8TE73	DNAH5	R	2304	W	R2304W	Likely benign	0	1	20	660
MUT:DNAH5:Arg2366Gln	PROT:Q8TE73	DNAH5	R	2366	Q	R2366Q	Pathogenic	1	1	20	598
MUT:DNAH5:Arg2366Trp	PROT:Q8TE73	DNAH5	R	2366	W	R2366W	Pathogenic/Likely pathogenic	1	2	20	598
MUT:DNAH5:Arg2425His	PROT:Q8TE73	DNAH5	R	2425	H	R2425H	Benign	0	2	20	539
MUT:DNAH5:Arg2437His	PROT:Q8TE73	DNAH5	R	2437	H	R2437H	Likely benign	0	1	20	527
MUT:DNAH5:Arg2511Pro	PROT:Q8TE73	DNAH5	R	2511	P	R2511P	Likely benign	0	1	20	453
MUT:DNAH5:Arg2545Cys	PROT:Q8TE73	DNAH5	R	2545	C	R2545C	Likely benign	0	1	20	419
MUT:DNAH5:Arg2677Pro	PROT:Q8TE73	DNAH5	R	2677	P	R2677P	Likely pathogenic	1	1	20	287
MUT:DNAH5:Arg2771Cys	PROT:Q8TE73	DNAH5	R	2771	C	R2771C	Pathogenic/Likely pathogenic	1	2	20	193
MUT:DNAH5:Arg2799Pro	PROT:Q8TE73	DNAH5	R	2799	P	R2799P	Likely pathogenic	1	1	20	165
MUT:DNAH5:Arg2828Cys	PROT:Q8TE73	DNAH5	R	2828	C	R2828C	Likely benign	0	2	20	136
MUT:DNAH5:Arg2828His	PROT:Q8TE73	DNAH5	R	2828	H	R2828H	Likely benign	0	1	20	136
MUT:DNAH5:Arg2833His	PROT:Q8TE73	DNAH5	R	2833	H	R2833H	Pathogenic/Likely pathogenic	1	2	20	131
MUT:DNAH5:Arg2833Ser	PROT:Q8TE73	DNAH5	R	2833	S	R2833S	Pathogenic	1	1	20	131
MUT:DNAH5:Arg3079Gln	PROT:Q8TE73	DNAH5	R	3079	Q	R3079Q	Likely benign	0	1	20	115
MUT:DNAH5:Arg3168Gln	PROT:Q8TE73	DNAH5	R	3168	Q	R3168Q	Likely benign	0	1	20	204
MUT:DNAH5:Arg328Trp	PROT:Q8TE73	DNAH5	R	328	W	R328W	Likely benign	0	1	20	8
MUT:DNAH5:Arg333Gln	PROT:Q8TE73	DNAH5	R	333	Q	R333Q	Likely benign	0	1	20	13
MUT:DNAH5:Arg3398His	PROT:Q8TE73	DNAH5	R	3398	H	R3398H	Benign	0	1	20	90
MUT:DNAH5:Arg3539Cys	PROT:Q8TE73	DNAH5	R	3539	C	R3539C	Pathogenic/Likely pathogenic	1	2	20	45
MUT:DNAH5:Arg3539His	PROT:Q8TE73	DNAH5	R	3539	H	R3539H	Pathogenic/Likely pathogenic	1	2	20	45
MUT:DNAH5:Arg3539Pro	PROT:Q8TE73	DNAH5	R	3539	P	R3539P	Likely pathogenic	1	1	20	45
MUT:DNAH5:Arg3547Gly	PROT:Q8TE73	DNAH5	R	3547	G	R3547G	Likely benign	0	1	20	53
MUT:DNAH5:Arg3553Trp	PROT:Q8TE73	DNAH5	R	3553	W	R3553W	Likely benign	0	1	20	59
MUT:DNAH5:Arg3620Gln	PROT:Q8TE73	DNAH5	R	3620	Q	R3620Q	Likely benign	0	1	20	22
MUT:DNAH5:Arg3767Leu	PROT:Q8TE73	DNAH5	R	3767	L	R3767L	Likely benign	0	1	20	16
MUT:DNAH5:Arg3834His	PROT:Q8TE73	DNAH5	R	3834	H	R3834H	Likely benign	0	1	20	83
MUT:DNAH5:Arg3845Leu	PROT:Q8TE73	DNAH5	R	3845	L	R3845L	Likely benign	0	1	20	94
MUT:DNAH5:Arg3909Gln	PROT:Q8TE73	DNAH5	R	3909	Q	R3909Q	Likely benign	0	1	20	33
MUT:DNAH5:Arg3996His	PROT:Q8TE73	DNAH5	R	3996	H	R3996H	Likely benign	0	1	20	33
MUT:DNAH5:Arg4042Trp	PROT:Q8TE73	DNAH5	R	4042	W	R4042W	Likely benign	0	1	20	79
MUT:DNAH5:Arg4158Trp	PROT:Q8TE73	DNAH5	R	4158	W	R4158W	Benign/Likely benign	0	2	20	98
MUT:DNAH5:Arg4243His	PROT:Q8TE73	DNAH5	R	4243	H	R4243H	Likely benign	0	1	20	13
MUT:DNAH5:Arg4408Cys	PROT:Q8TE73	DNAH5	R	4408	C	R4408C	Likely benign	0	1	20	17
MUT:DNAH5:Arg4429Gln	PROT:Q8TE73	DNAH5	R	4429	Q	R4429Q	Benign/Likely benign	0	2	20	4
MUT:DNAH5:Arg4496Gln	PROT:Q8TE73	DNAH5	R	4496	Q	R4496Q	Likely benign	0	1	20	59
MUT:DNAH5:Arg4501Gln	PROT:Q8TE73	DNAH5	R	4501	Q	R4501Q	Likely benign	0	1	20	54
MUT:DNAH5:Arg4568Ser	PROT:Q8TE73	DNAH5	R	4568	S	R4568S	Likely benign	0	1	20	13
MUT:DNAH5:Arg4580Trp	PROT:Q8TE73	DNAH5	R	4580	W	R4580W	Likely benign	0	1	20	25
MUT:DNAH5:Arg478Gln	PROT:Q8TE73	DNAH5	R	478	Q	R478Q	Likely benign	0	1	20	158
MUT:DNAH5:Arg479Cys	PROT:Q8TE73	DNAH5	R	479	C	R479C	Likely benign	0	1	20	159
MUT:DNAH5:Arg479His	PROT:Q8TE73	DNAH5	R	479	H	R479H	Likely benign	0	1	20	159
MUT:DNAH5:Arg529Gly	PROT:Q8TE73	DNAH5	R	529	G	R529G	Likely benign	0	1	20	209
MUT:DNAH5:Arg552Gln	PROT:Q8TE73	DNAH5	R	552	Q	R552Q	Likely benign	0	1	20	232
MUT:DNAH5:Arg577Thr	PROT:Q8TE73	DNAH5	R	577	T	R577T	Pathogenic/Likely pathogenic	1	4	20	257
MUT:DNAH5:Arg631His	PROT:Q8TE73	DNAH5	R	631	H	R631H	Likely benign	0	1	20	311
MUT:DNAH5:Arg661His	PROT:Q8TE73	DNAH5	R	661	H	R661H	Likely benign	0	1	20	341
MUT:DNAH5:Arg67Ile	PROT:Q8TE73	DNAH5	R	67	I	R67I	Likely benign	0	1	20	44
MUT:DNAH5:Arg683Gln	PROT:Q8TE73	DNAH5	R	683	Q	R683Q	Likely benign	0	1	20	363
MUT:DNAH5:Arg78Gln	PROT:Q8TE73	DNAH5	R	78	Q	R78Q	Likely benign	0	1	20	55
MUT:DNAH5:Arg7Lys	PROT:Q8TE73	DNAH5	R	7	K	R7K	Likely benign	0	1	20	16
MUT:DNAH5:Arg956Cys	PROT:Q8TE73	DNAH5	R	956	C	R956C	Likely benign	0	1	20	102
MUT:DNAH5:Arg956Pro	PROT:Q8TE73	DNAH5	R	956	P	R956P	Likely benign	0	1	20	102
MUT:DNAH5:Arg975Lys	PROT:Q8TE73	DNAH5	R	975	K	R975K	Likely benign	0	1	20	83
MUT:DNAH5:Arg982His	PROT:Q8TE73	DNAH5	R	982	H	R982H	Likely benign	0	1	20	76
MUT:DNAH5:Arg984Cys	PROT:Q8TE73	DNAH5	R	984	C	R984C	Likely benign	0	1	20	74
MUT:DNAH5:Arg994Trp	PROT:Q8TE73	DNAH5	R	994	W	R994W	Likely benign	0	1	20	64
MUT:DNAH5:Asn1222Ile	PROT:Q8TE73	DNAH5	N	1222	I	N1222I	Likely benign	0	1	20	164
MUT:DNAH5:Asn1444Ser	PROT:Q8TE73	DNAH5	N	1444	S	N1444S	Benign	0	1	20	93
MUT:DNAH5:Asn1518Ser	PROT:Q8TE73	DNAH5	N	1518	S	N1518S	Likely benign	0	1	20	19
MUT:DNAH5:Asn1617Ser	PROT:Q8TE73	DNAH5	N	1617	S	N1617S	Likely benign	0	1	20	80
MUT:DNAH5:Asn2172Ser	PROT:Q8TE73	DNAH5	N	2172	S	N2172S	Likely benign	0	1	20	635
MUT:DNAH5:Asn2211Ser	PROT:Q8TE73	DNAH5	N	2211	S	N2211S	Likely benign	0	1	20	674
MUT:DNAH5:Asn2237Ser	PROT:Q8TE73	DNAH5	N	2237	S	N2237S	Benign	0	1	20	700
MUT:DNAH5:Asn2911Ser	PROT:Q8TE73	DNAH5	N	2911	S	N2911S	Likely benign	0	1	20	53
MUT:DNAH5:Asn298Asp	PROT:Q8TE73	DNAH5	N	298	D	N298D	Likely benign	0	1	20	12
MUT:DNAH5:Asn298Lys	PROT:Q8TE73	DNAH5	N	298	K	N298K	Benign/Likely benign	0	2	20	12
MUT:DNAH5:Asn3204Ser	PROT:Q8TE73	DNAH5	N	3204	S	N3204S	Likely benign	0	1	20	240
MUT:DNAH5:Asn3235Ser	PROT:Q8TE73	DNAH5	N	3235	S	N3235S	Likely benign	0	1	20	253
MUT:DNAH5:Asn344His	PROT:Q8TE73	DNAH5	N	344	H	N344H	Likely benign	0	1	20	24
MUT:DNAH5:Asn3985Ser	PROT:Q8TE73	DNAH5	N	3985	S	N3985S	Benign	0	1	20	22
MUT:DNAH5:Asn414Ile	PROT:Q8TE73	DNAH5	N	414	I	N414I	Likely benign	0	1	20	94
MUT:DNAH5:Asn414Ser	PROT:Q8TE73	DNAH5	N	414	S	N414S	Likely benign	0	1	20	94
MUT:DNAH5:Asn4503Ser	PROT:Q8TE73	DNAH5	N	4503	S	N4503S	Likely benign	0	1	20	52
MUT:DNAH5:Asn4549Ile	PROT:Q8TE73	DNAH5	N	4549	I	N4549I	Likely benign	0	1	20	6
MUT:DNAH5:Asn549Lys	PROT:Q8TE73	DNAH5	N	549	K	N549K	Benign/Likely benign	0	7	20	229
MUT:DNAH5:Asn619Asp	PROT:Q8TE73	DNAH5	N	619	D	N619D	Likely benign	0	1	20	299
MUT:DNAH5:Asn751Lys	PROT:Q8TE73	DNAH5	N	751	K	N751K	Benign	0	2	20	307
MUT:DNAH5:Asp1029Val	PROT:Q8TE73	DNAH5	D	1029	V	D1029V	Likely benign	0	1	20	29
MUT:DNAH5:Asp142Glu	PROT:Q8TE73	DNAH5	D	142	E	D142E	Likely benign	0	1	20	119
MUT:DNAH5:Asp154Ala	PROT:Q8TE73	DNAH5	D	154	A	D154A	Likely benign	0	1	20	131
MUT:DNAH5:Asp1682Gly	PROT:Q8TE73	DNAH5	D	1682	G	D1682G	Likely benign	0	1	20	145
MUT:DNAH5:Asp1902Glu	PROT:Q8TE73	DNAH5	D	1902	E	D1902E	Likely benign	0	1	20	365
MUT:DNAH5:Asp2038Glu	PROT:Q8TE73	DNAH5	D	2038	E	D2038E	Likely benign	0	1	20	501
MUT:DNAH5:Asp2657Val	PROT:Q8TE73	DNAH5	D	2657	V	D2657V	Likely pathogenic	1	1	20	307
MUT:DNAH5:Asp2796His	PROT:Q8TE73	DNAH5	D	2796	H	D2796H	Likely pathogenic	1	1	20	168
MUT:DNAH5:Asp2817Tyr	PROT:Q8TE73	DNAH5	D	2817	Y	D2817Y	Likely pathogenic	1	1	20	147
MUT:DNAH5:Asp2839Glu	PROT:Q8TE73	DNAH5	D	2839	E	D2839E	Likely benign	0	1	20	125
MUT:DNAH5:Asp2933Glu	PROT:Q8TE73	DNAH5	D	2933	E	D2933E	Likely benign	0	1	20	31
MUT:DNAH5:Asp3239Asn	PROT:Q8TE73	DNAH5	D	3239	N	D3239N	Benign	0	1	20	249
MUT:DNAH5:Asp3478Asn	PROT:Q8TE73	DNAH5	D	3478	N	D3478N	Likely benign	0	1	20	10
MUT:DNAH5:Asp34Asn	PROT:Q8TE73	DNAH5	D	34	N	D34N	Likely benign	0	1	20	11
MUT:DNAH5:Asp3749Tyr	PROT:Q8TE73	DNAH5	D	3749	Y	D3749Y	Likely benign	0	1	20	2
MUT:DNAH5:Asp3749Val	PROT:Q8TE73	DNAH5	D	3749	V	D3749V	Likely benign	0	1	20	2
MUT:DNAH5:Asp3778Gly	PROT:Q8TE73	DNAH5	D	3778	G	D3778G	Likely benign	0	1	20	27
MUT:DNAH5:Asp4152Asn	PROT:Q8TE73	DNAH5	D	4152	N	D4152N	Likely benign	0	1	20	104
MUT:DNAH5:Asp4232Asn	PROT:Q8TE73	DNAH5	D	4232	N	D4232N	Benign	0	1	20	24
MUT:DNAH5:Asp4260Val	PROT:Q8TE73	DNAH5	D	4260	V	D4260V	Likely pathogenic	1	1	20	1
MUT:DNAH5:Asp4280Val	PROT:Q8TE73	DNAH5	D	4280	V	D4280V	Benign	0	1	20	21
MUT:DNAH5:Asp4602Tyr	PROT:Q8TE73	DNAH5	D	4602	Y	D4602Y	Likely benign	0	1	20	47
MUT:DNAH5:Asp546Glu	PROT:Q8TE73	DNAH5	D	546	E	D546E	Benign/Likely benign	0	1	20	226
MUT:DNAH5:Asp782Gly	PROT:Q8TE73	DNAH5	D	782	G	D782G	Likely benign	0	1	20	276
MUT:DNAH5:Asp818Gly	PROT:Q8TE73	DNAH5	D	818	G	D818G	Likely benign	0	1	20	240
MUT:DNAH5:Cys1191Trp	PROT:Q8TE73	DNAH5	C	1191	W	C1191W	Likely benign	0	1	20	133
MUT:DNAH5:Cys1479Phe	PROT:Q8TE73	DNAH5	C	1479	F	C1479F	Benign	0	1	20	58
MUT:DNAH5:Cys1679Tyr	PROT:Q8TE73	DNAH5	C	1679	Y	C1679Y	Likely pathogenic	1	1	20	142
MUT:DNAH5:Cys2030Gly	PROT:Q8TE73	DNAH5	C	2030	G	C2030G	Pathogenic/Likely pathogenic	1	2	20	493
MUT:DNAH5:Gln2463Arg	PROT:Q8TE73	DNAH5	Q	2463	R	Q2463R	Benign	0	2	20	501
MUT:DNAH5:Gln273His	PROT:Q8TE73	DNAH5	Q	273	H	Q273H	Likely benign	0	1	20	37
MUT:DNAH5:Gln2752His	PROT:Q8TE73	DNAH5	Q	2752	H	Q2752H	Likely benign	0	1	20	212
MUT:DNAH5:Gln3351Lys	PROT:Q8TE73	DNAH5	Q	3351	K	Q3351K	Likely benign	0	1	20	137
MUT:DNAH5:Gln403Lys	PROT:Q8TE73	DNAH5	Q	403	K	Q403K	Likely benign	0	1	20	83
MUT:DNAH5:Gln4088Lys	PROT:Q8TE73	DNAH5	Q	4088	K	Q4088K	Likely benign	0	1	20	125
MUT:DNAH5:Gln451Lys	PROT:Q8TE73	DNAH5	Q	451	K	Q451K	Likely benign	0	1	20	131
MUT:DNAH5:Gln620Lys	PROT:Q8TE73	DNAH5	Q	620	K	Q620K	Benign/Likely benign	0	2	20	300
MUT:DNAH5:Glu1063Asp	PROT:Q8TE73	DNAH5	E	1063	D	E1063D	Likely benign	0	1	20	5
MUT:DNAH5:Glu1315Lys	PROT:Q8TE73	DNAH5	E	1315	K	E1315K	Likely benign	0	1	20	222
MUT:DNAH5:Glu1440Ala	PROT:Q8TE73	DNAH5	E	1440	A	E1440A	Likely benign	0	1	20	97
MUT:DNAH5:Glu1843Ala	PROT:Q8TE73	DNAH5	E	1843	A	E1843A	Likely benign	0	1	20	306
MUT:DNAH5:Glu1926Lys	PROT:Q8TE73	DNAH5	E	1926	K	E1926K	Benign	0	1	20	389
MUT:DNAH5:Glu2143Val	PROT:Q8TE73	DNAH5	E	2143	V	E2143V	Likely benign	0	1	20	606
MUT:DNAH5:Glu2430Lys	PROT:Q8TE73	DNAH5	E	2430	K	E2430K	Likely benign	0	1	20	534
MUT:DNAH5:Glu2993Gln	PROT:Q8TE73	DNAH5	E	2993	Q	E2993Q	Likely benign	0	1	20	29
MUT:DNAH5:Glu3140Gln	PROT:Q8TE73	DNAH5	E	3140	Q	E3140Q	Likely benign	0	1	20	176
MUT:DNAH5:Glu3158Lys	PROT:Q8TE73	DNAH5	E	3158	K	E3158K	Benign	0	1	20	194
MUT:DNAH5:Glu3434Asp	PROT:Q8TE73	DNAH5	E	3434	D	E3434D	Likely benign	0	1	20	54
MUT:DNAH5:Glu3450Lys	PROT:Q8TE73	DNAH5	E	3450	K	E3450K	Likely benign	0	1	20	38
MUT:DNAH5:Glu3549Gly	PROT:Q8TE73	DNAH5	E	3549	G	E3549G	Likely benign	0	1	20	55
MUT:DNAH5:Glu3618Lys	PROT:Q8TE73	DNAH5	E	3618	K	E3618K	Likely benign	0	1	20	24
MUT:DNAH5:Glu3650Lys	PROT:Q8TE73	DNAH5	E	3650	K	E3650K	Benign	0	1	20	8
MUT:DNAH5:Glu3806Asp	PROT:Q8TE73	DNAH5	E	3806	D	E3806D	Likely benign	0	1	20	55
MUT:DNAH5:Glu4026Lys	PROT:Q8TE73	DNAH5	E	4026	K	E4026K	Likely benign	0	1	20	63
MUT:DNAH5:Glu4037Gln	PROT:Q8TE73	DNAH5	E	4037	Q	E4037Q	Likely benign	0	1	20	74
MUT:DNAH5:Glu4133Lys	PROT:Q8TE73	DNAH5	E	4133	K	E4133K	Likely benign	0	1	20	123
MUT:DNAH5:Glu4426Lys	PROT:Q8TE73	DNAH5	E	4426	K	E4426K	Likely benign	0	1	20	1
MUT:DNAH5:Glu4463Gly	PROT:Q8TE73	DNAH5	E	4463	G	E4463G	Likely benign	0	1	20	38
MUT:DNAH5:Glu539Ala	PROT:Q8TE73	DNAH5	E	539	A	E539A	Likely benign	0	1	20	219
MUT:DNAH5:Glu693Gln	PROT:Q8TE73	DNAH5	E	693	Q	E693Q	Likely benign	0	1	20	365
MUT:DNAH5:Glu834Asp	PROT:Q8TE73	DNAH5	E	834	D	E834D	Likely benign	0	1	20	224
MUT:DNAH5:Glu895Lys	PROT:Q8TE73	DNAH5	E	895	K	E895K	Benign/Likely benign	0	2	20	163
MUT:DNAH5:Glu912Val	PROT:Q8TE73	DNAH5	E	912	V	E912V	Likely benign	0	1	20	146
MUT:DNAH5:Gly100Arg	PROT:Q8TE73	DNAH5	G	100	R	G100R	Likely benign	0	1	20	77
MUT:DNAH5:Gly1047Arg	PROT:Q8TE73	DNAH5	G	1047	R	G1047R	Pathogenic	1	1	20	11
MUT:DNAH5:Gly1563Ser	PROT:Q8TE73	DNAH5	G	1563	S	G1563S	Likely benign	0	1	20	26
MUT:DNAH5:Gly1975Ala	PROT:Q8TE73	DNAH5	G	1975	A	G1975A	Likely benign	0	1	20	438
MUT:DNAH5:Gly1985Arg	PROT:Q8TE73	DNAH5	G	1985	R	G1985R	Likely pathogenic	1	1	20	448
MUT:DNAH5:Gly2464Asp	PROT:Q8TE73	DNAH5	G	2464	D	G2464D	Likely benign	0	1	20	500
MUT:DNAH5:Gly2464Val	PROT:Q8TE73	DNAH5	G	2464	V	G2464V	Benign	0	1	20	500
MUT:DNAH5:Gly2473Arg	PROT:Q8TE73	DNAH5	G	2473	R	G2473R	Likely benign	0	1	20	491
MUT:DNAH5:Gly24Glu	PROT:Q8TE73	DNAH5	G	24	E	G24E	Benign	0	2	20	1
MUT:DNAH5:Gly2500Arg	PROT:Q8TE73	DNAH5	G	2500	R	G2500R	Likely benign	0	1	20	464
MUT:DNAH5:Gly2514Val	PROT:Q8TE73	DNAH5	G	2514	V	G2514V	Likely benign	0	1	20	450
MUT:DNAH5:Gly2523Glu	PROT:Q8TE73	DNAH5	G	2523	E	G2523E	Likely benign	0	1	20	441
MUT:DNAH5:Gly2590Val	PROT:Q8TE73	DNAH5	G	2590	V	G2590V	Likely pathogenic	1	1	20	374
MUT:DNAH5:Gly2856Ser	PROT:Q8TE73	DNAH5	G	2856	S	G2856S	Likely benign	0	1	20	108
MUT:DNAH5:Gly2925Ser	PROT:Q8TE73	DNAH5	G	2925	S	G2925S	Likely benign	0	1	20	39
MUT:DNAH5:Gly2974Asp	PROT:Q8TE73	DNAH5	G	2974	D	G2974D	Likely benign	0	1	20	10
MUT:DNAH5:Gly3519Arg	PROT:Q8TE73	DNAH5	G	3519	R	G3519R	Likely pathogenic	1	2	20	25
MUT:DNAH5:Gly3921Arg	PROT:Q8TE73	DNAH5	G	3921	R	G3921R	Pathogenic	1	1	20	21
MUT:DNAH5:Gly3922Asp	PROT:Q8TE73	DNAH5	G	3922	D	G3922D	Likely benign	0	1	20	20
MUT:DNAH5:Gly4205Val	PROT:Q8TE73	DNAH5	G	4205	V	G4205V	Pathogenic	1	1	20	51
MUT:DNAH5:Gly4286Glu	PROT:Q8TE73	DNAH5	G	4286	E	G4286E	Benign	0	1	20	27
MUT:DNAH5:Gly4347Arg	PROT:Q8TE73	DNAH5	G	4347	R	G4347R	Likely benign	0	1	20	2
MUT:DNAH5:Gly4455Val	PROT:Q8TE73	DNAH5	G	4455	V	G4455V	Likely benign	0	1	20	30
MUT:DNAH5:Gly4542Ala	PROT:Q8TE73	DNAH5	G	4542	A	G4542A	Likely benign	0	1	20	13
MUT:DNAH5:His12Gln	PROT:Q8TE73	DNAH5	H	12	Q	H12Q	Benign	0	2	20	11
MUT:DNAH5:His1303Arg	PROT:Q8TE73	DNAH5	H	1303	R	H1303R	Likely benign	0	1	20	234
MUT:DNAH5:His2748Tyr	PROT:Q8TE73	DNAH5	H	2748	Y	H2748Y	Likely benign	0	1	20	216
MUT:DNAH5:His3172Asp	PROT:Q8TE73	DNAH5	H	3172	D	H3172D	Likely benign	0	1	20	208
MUT:DNAH5:His3437Tyr	PROT:Q8TE73	DNAH5	H	3437	Y	H3437Y	Likely benign	0	1	20	51
MUT:DNAH5:His3630Gln	PROT:Q8TE73	DNAH5	H	3630	Q	H3630Q	Likely benign	0	1	20	12
MUT:DNAH5:His3912Arg	PROT:Q8TE73	DNAH5	H	3912	R	H3912R	Likely benign	0	1	20	30
MUT:DNAH5:His635Arg	PROT:Q8TE73	DNAH5	H	635	R	H635R	Likely benign	0	1	20	315
MUT:DNAH5:His870Arg	PROT:Q8TE73	DNAH5	H	870	R	H870R	Likely benign	0	1	20	188
MUT:DNAH5:His964Leu	PROT:Q8TE73	DNAH5	H	964	L	H964L	Benign	0	1	20	94
MUT:DNAH5:Ile1127Val	PROT:Q8TE73	DNAH5	I	1127	V	I1127V	Benign	0	1	20	69
MUT:DNAH5:Ile1173Leu	PROT:Q8TE73	DNAH5	I	1173	L	I1173L	Likely benign	0	1	20	115
MUT:DNAH5:Ile1236Thr	PROT:Q8TE73	DNAH5	I	1236	T	I1236T	Likely benign	0	1	20	178
MUT:DNAH5:Ile1253Thr	PROT:Q8TE73	DNAH5	I	1253	T	I1253T	Likely benign	0	1	20	195
MUT:DNAH5:Ile1277Phe	PROT:Q8TE73	DNAH5	I	1277	F	I1277F	Likely benign	0	1	20	219
MUT:DNAH5:Ile1296Thr	PROT:Q8TE73	DNAH5	I	1296	T	I1296T	Likely benign	0	1	20	238
MUT:DNAH5:Ile171Val	PROT:Q8TE73	DNAH5	I	171	V	I171V	Likely benign	0	1	20	139
MUT:DNAH5:Ile1765Thr	PROT:Q8TE73	DNAH5	I	1765	T	I1765T	Likely benign	0	1	20	228
MUT:DNAH5:Ile1765Val	PROT:Q8TE73	DNAH5	I	1765	V	I1765V	Likely benign	0	1	20	228
MUT:DNAH5:Ile1855Val	PROT:Q8TE73	DNAH5	I	1855	V	I1855V	Likely benign	0	1	20	318
MUT:DNAH5:Ile1941Leu	PROT:Q8TE73	DNAH5	I	1941	L	I1941L	Likely benign	0	1	20	404
MUT:DNAH5:Ile2064Thr	PROT:Q8TE73	DNAH5	I	2064	T	I2064T	Likely benign	0	1	20	527
MUT:DNAH5:Ile2205Phe	PROT:Q8TE73	DNAH5	I	2205	F	I2205F	Likely benign	0	1	20	668
MUT:DNAH5:Ile2226Val	PROT:Q8TE73	DNAH5	I	2226	V	I2226V	Likely benign	0	1	20	689
MUT:DNAH5:Ile228Val	PROT:Q8TE73	DNAH5	I	228	V	I228V	Likely benign	0	1	20	82
MUT:DNAH5:Ile2579Val	PROT:Q8TE73	DNAH5	I	2579	V	I2579V	Likely benign	0	1	20	385
MUT:DNAH5:Ile2600Met	PROT:Q8TE73	DNAH5	I	2600	M	I2600M	Likely benign	0	1	20	364
MUT:DNAH5:Ile2656Thr	PROT:Q8TE73	DNAH5	I	2656	T	I2656T	Likely pathogenic	1	1	20	308
MUT:DNAH5:Ile2726Val	PROT:Q8TE73	DNAH5	I	2726	V	I2726V	Likely benign	0	1	20	238
MUT:DNAH5:Ile2812Val	PROT:Q8TE73	DNAH5	I	2812	V	I2812V	Likely benign	0	1	20	152
MUT:DNAH5:Ile2945Met	PROT:Q8TE73	DNAH5	I	2945	M	I2945M	Likely benign	0	1	20	19
MUT:DNAH5:Ile3009Met	PROT:Q8TE73	DNAH5	I	3009	M	I3009M	Likely benign	0	1	20	45
MUT:DNAH5:Ile3018Phe	PROT:Q8TE73	DNAH5	I	3018	F	I3018F	Likely benign	0	1	20	54
MUT:DNAH5:Ile3135Thr	PROT:Q8TE73	DNAH5	I	3135	T	I3135T	Benign	0	1	20	171
MUT:DNAH5:Ile3182Met	PROT:Q8TE73	DNAH5	I	3182	M	I3182M	Likely benign	0	1	20	218
MUT:DNAH5:Ile3322Leu	PROT:Q8TE73	DNAH5	I	3322	L	I3322L	Likely benign	0	1	20	166
MUT:DNAH5:Ile383Ser	PROT:Q8TE73	DNAH5	I	383	S	I383S	Likely benign	0	1	20	63
MUT:DNAH5:Ile3872Thr	PROT:Q8TE73	DNAH5	I	3872	T	I3872T	Likely benign	0	1	20	70
MUT:DNAH5:Ile4046Val	PROT:Q8TE73	DNAH5	I	4046	V	I4046V	Likely benign	0	1	20	83
MUT:DNAH5:Ile4116Val	PROT:Q8TE73	DNAH5	I	4116	V	I4116V	Benign/Likely benign	0	1	20	140
MUT:DNAH5:Ile4117Val	PROT:Q8TE73	DNAH5	I	4117	V	I4117V	Likely benign	0	1	20	139
MUT:DNAH5:Ile4450Val	PROT:Q8TE73	DNAH5	I	4450	V	I4450V	Benign	0	2	20	25
MUT:DNAH5:Ile4499Met	PROT:Q8TE73	DNAH5	I	4499	M	I4499M	Likely benign	0	1	20	56
MUT:DNAH5:Ile4553Thr	PROT:Q8TE73	DNAH5	I	4553	T	I4553T	Likely benign	0	1	20	2
MUT:DNAH5:Ile4Thr	PROT:Q8TE73	DNAH5	I	4	T	I4T	Likely benign	0	1	20	19
MUT:DNAH5:Ile518Thr	PROT:Q8TE73	DNAH5	I	518	T	I518T	Benign	0	1	20	198
MUT:DNAH5:Ile600Val	PROT:Q8TE73	DNAH5	I	600	V	I600V	Likely benign	0	1	20	280
MUT:DNAH5:Ile766Leu	PROT:Q8TE73	DNAH5	I	766	L	I766L	Benign	0	2	20	292
MUT:DNAH5:Ile981Val	PROT:Q8TE73	DNAH5	I	981	V	I981V	Likely benign	0	1	20	77
MUT:DNAH5:Leu1007Phe	PROT:Q8TE73	DNAH5	L	1007	F	L1007F	Benign/Likely benign	0	2	20	51
MUT:DNAH5:Leu1179Val	PROT:Q8TE73	DNAH5	L	1179	V	L1179V	Likely benign	0	1	20	121
MUT:DNAH5:Leu1320Ser	PROT:Q8TE73	DNAH5	L	1320	S	L1320S	Likely benign	0	1	20	217
MUT:DNAH5:Leu1548Pro	PROT:Q8TE73	DNAH5	L	1548	P	L1548P	Likely pathogenic	1	1	20	11
MUT:DNAH5:Leu1685Met	PROT:Q8TE73	DNAH5	L	1685	M	L1685M	Likely benign	0	1	20	148
MUT:DNAH5:Leu1726Pro	PROT:Q8TE73	DNAH5	L	1726	P	L1726P	Pathogenic	1	2	20	189
MUT:DNAH5:Leu1846Val	PROT:Q8TE73	DNAH5	L	1846	V	L1846V	Likely benign	0	1	20	309
MUT:DNAH5:Leu2079Phe	PROT:Q8TE73	DNAH5	L	2079	F	L2079F	Likely benign	0	1	20	542
MUT:DNAH5:Leu2119Met	PROT:Q8TE73	DNAH5	L	2119	M	L2119M	Likely benign	0	1	20	582
MUT:DNAH5:Leu2222Met	PROT:Q8TE73	DNAH5	L	2222	M	L2222M	Likely benign	0	1	20	685
MUT:DNAH5:Leu2235Val	PROT:Q8TE73	DNAH5	L	2235	V	L2235V	Benign/Likely benign	0	2	20	698
MUT:DNAH5:Leu2550Gln	PROT:Q8TE73	DNAH5	L	2550	Q	L2550Q	Likely benign	0	1	20	414
MUT:DNAH5:Leu2862Phe	PROT:Q8TE73	DNAH5	L	2862	F	L2862F	Benign	0	2	20	102
MUT:DNAH5:Leu300Ile	PROT:Q8TE73	DNAH5	L	300	I	L300I	Likely benign	0	1	20	10
MUT:DNAH5:Leu3329Pro	PROT:Q8TE73	DNAH5	L	3329	P	L3329P	Likely pathogenic	1	2	20	159
MUT:DNAH5:Leu3341Pro	PROT:Q8TE73	DNAH5	L	3341	P	L3341P	Benign	0	1	20	147
MUT:DNAH5:Leu3476Arg	PROT:Q8TE73	DNAH5	L	3476	R	L3476R	Likely benign	0	1	20	12
MUT:DNAH5:Leu3944Pro	PROT:Q8TE73	DNAH5	L	3944	P	L3944P	Likely benign	0	1	20	2
MUT:DNAH5:Leu4603Phe	PROT:Q8TE73	DNAH5	L	4603	F	L4603F	Likely benign	0	1	20	48
MUT:DNAH5:Leu591Arg	PROT:Q8TE73	DNAH5	L	591	R	L591R	Benign	0	2	20	271
MUT:DNAH5:Leu937Pro	PROT:Q8TE73	DNAH5	L	937	P	L937P	Likely benign	0	1	20	121
MUT:DNAH5:Leu978Val	PROT:Q8TE73	DNAH5	L	978	V	L978V	Likely benign	0	1	20	80
MUT:DNAH5:Lys1203Gln	PROT:Q8TE73	DNAH5	K	1203	Q	K1203Q	Likely benign	0	1	20	145
MUT:DNAH5:Lys1526Ile	PROT:Q8TE73	DNAH5	K	1526	I	K1526I	Likely benign	0	1	20	11
MUT:DNAH5:Lys1646Gln	PROT:Q8TE73	DNAH5	K	1646	Q	K1646Q	Likely benign	0	1	20	109
MUT:DNAH5:Lys1854Ile	PROT:Q8TE73	DNAH5	K	1854	I	K1854I	Pathogenic	1	1	20	317
MUT:DNAH5:Lys2374Arg	PROT:Q8TE73	DNAH5	K	2374	R	K2374R	Likely benign	0	1	20	590
MUT:DNAH5:Lys23Arg	PROT:Q8TE73	DNAH5	K	23	R	K23R	Likely benign	0	1	20	0
MUT:DNAH5:Lys2778Arg	PROT:Q8TE73	DNAH5	K	2778	R	K2778R	Likely benign	0	1	20	186
MUT:DNAH5:Lys2778Gln	PROT:Q8TE73	DNAH5	K	2778	Q	K2778Q	Likely benign	0	1	20	186
MUT:DNAH5:Lys2859Glu	PROT:Q8TE73	DNAH5	K	2859	E	K2859E	Benign/Likely benign	0	1	20	105
MUT:DNAH5:Lys292Asn	PROT:Q8TE73	DNAH5	K	292	N	K292N	Likely benign	0	1	20	18
MUT:DNAH5:Lys3254Arg	PROT:Q8TE73	DNAH5	K	3254	R	K3254R	Likely benign	0	1	20	234
MUT:DNAH5:Lys4136Glu	PROT:Q8TE73	DNAH5	K	4136	E	K4136E	Benign	0	1	20	120
MUT:DNAH5:Lys809Glu	PROT:Q8TE73	DNAH5	K	809	E	K809E	Likely benign	0	1	20	249
MUT:DNAH5:Met1081Val	PROT:Q8TE73	DNAH5	M	1081	V	M1081V	Benign/Likely benign	0	4	20	23
MUT:DNAH5:Met1214Ile	PROT:Q8TE73	DNAH5	M	1214	I	M1214I	Likely benign	0	1	20	156
MUT:DNAH5:Met1214Val	PROT:Q8TE73	DNAH5	M	1214	V	M1214V	Likely benign	0	1	20	156
MUT:DNAH5:Met1626Thr	PROT:Q8TE73	DNAH5	M	1626	T	M1626T	Likely benign	0	1	20	89
MUT:DNAH5:Met1856Val	PROT:Q8TE73	DNAH5	M	1856	V	M1856V	Likely benign	0	1	20	319
MUT:DNAH5:Met1906Val	PROT:Q8TE73	DNAH5	M	1906	V	M1906V	Likely benign	0	1	20	369
MUT:DNAH5:Met1912Thr	PROT:Q8TE73	DNAH5	M	1912	T	M1912T	Likely benign	0	1	20	375
MUT:DNAH5:Met1Val	PROT:Q8TE73	DNAH5	M	1	V	M1V	Likely pathogenic	1	1	20	22
MUT:DNAH5:Met2083Ile	PROT:Q8TE73	DNAH5	M	2083	I	M2083I	Pathogenic/Likely pathogenic	1	2	20	546
MUT:DNAH5:Met3486Thr	PROT:Q8TE73	DNAH5	M	3486	T	M3486T	Benign	0	2	20	2
MUT:DNAH5:Met3747Leu	PROT:Q8TE73	DNAH5	M	3747	L	M3747L	Likely benign	0	1	20	3
MUT:DNAH5:Met3757Ile	PROT:Q8TE73	DNAH5	M	3757	I	M3757I	Likely benign	0	1	20	6
MUT:DNAH5:Met3875Val	PROT:Q8TE73	DNAH5	M	3875	V	M3875V	Likely benign	0	1	20	67
MUT:DNAH5:Met4020Thr	PROT:Q8TE73	DNAH5	M	4020	T	M4020T	Likely benign	0	1	20	57
MUT:DNAH5:Met4051Val	PROT:Q8TE73	DNAH5	M	4051	V	M4051V	Likely benign	0	1	20	88
MUT:DNAH5:Met4075Ile	PROT:Q8TE73	DNAH5	M	4075	I	M4075I	Likely benign	0	1	20	112
MUT:DNAH5:Met4091Thr	PROT:Q8TE73	DNAH5	M	4091	T	M4091T	Likely benign	0	1	20	128
MUT:DNAH5:Met4109Val	PROT:Q8TE73	DNAH5	M	4109	V	M4109V	Likely benign	0	1	20	146
MUT:DNAH5:Met4363Ile	PROT:Q8TE73	DNAH5	M	4363	I	M4363I	Likely benign	0	1	20	12
MUT:DNAH5:Met4482Leu	PROT:Q8TE73	DNAH5	M	4482	L	M4482L	Likely benign	0	1	20	57
MUT:DNAH5:Met555Thr	PROT:Q8TE73	DNAH5	M	555	T	M555T	Likely benign	0	1	20	235
MUT:DNAH5:Met967Ile	PROT:Q8TE73	DNAH5	M	967	I	M967I	Likely benign	0	1	20	91
MUT:DNAH5:Phe2724Leu	PROT:Q8TE73	DNAH5	F	2724	L	F2724L	Likely benign	0	1	20	240
MUT:DNAH5:Phe2843Ser	PROT:Q8TE73	DNAH5	F	2843	S	F2843S	Pathogenic/Likely pathogenic	1	2	20	121
MUT:DNAH5:Phe4108Ser	PROT:Q8TE73	DNAH5	F	4108	S	F4108S	Likely benign	0	1	20	145
MUT:DNAH5:Phe41Leu	PROT:Q8TE73	DNAH5	F	41	L	F41L	Likely benign	0	1	20	18
MUT:DNAH5:Phe718Leu	PROT:Q8TE73	DNAH5	F	718	L	F718L	Likely benign	0	1	20	340
MUT:DNAH5:Pro1354Ala	PROT:Q8TE73	DNAH5	P	1354	A	P1354A	Likely benign	0	1	20	183
MUT:DNAH5:Pro1361Arg	PROT:Q8TE73	DNAH5	P	1361	R	P1361R	Benign	0	1	20	176
MUT:DNAH5:Pro1603Thr	PROT:Q8TE73	DNAH5	P	1603	T	P1603T	Benign/Likely benign	0	3	20	66
MUT:DNAH5:Pro2173Ala	PROT:Q8TE73	DNAH5	P	2173	A	P2173A	Likely benign	0	1	20	636
MUT:DNAH5:Pro2239Ser	PROT:Q8TE73	DNAH5	P	2239	S	P2239S	Likely benign	0	2	20	702
MUT:DNAH5:Pro2240Ser	PROT:Q8TE73	DNAH5	P	2240	S	P2240S	Likely benign	0	1	20	703
MUT:DNAH5:Pro237Leu	PROT:Q8TE73	DNAH5	P	237	L	P237L	Likely benign	0	1	20	73
MUT:DNAH5:Pro2512Arg	PROT:Q8TE73	DNAH5	P	2512	R	P2512R	Likely benign	0	1	20	452
MUT:DNAH5:Pro2519Leu	PROT:Q8TE73	DNAH5	P	2519	L	P2519L	Benign	0	1	20	445
MUT:DNAH5:Pro2520Leu	PROT:Q8TE73	DNAH5	P	2520	L	P2520L	Likely benign	0	1	20	444
MUT:DNAH5:Pro2662Arg	PROT:Q8TE73	DNAH5	P	2662	R	P2662R	Pathogenic	1	1	20	302
MUT:DNAH5:Pro2717Ser	PROT:Q8TE73	DNAH5	P	2717	S	P2717S	Likely benign	0	1	20	247
MUT:DNAH5:Pro2948Leu	PROT:Q8TE73	DNAH5	P	2948	L	P2948L	Likely benign	0	1	20	16
MUT:DNAH5:Pro2948Ser	PROT:Q8TE73	DNAH5	P	2948	S	P2948S	Likely benign	0	1	20	16
MUT:DNAH5:Pro3862Leu	PROT:Q8TE73	DNAH5	P	3862	L	P3862L	Likely benign	0	1	20	80
MUT:DNAH5:Pro3934Arg	PROT:Q8TE73	DNAH5	P	3934	R	P3934R	Likely benign	0	1	20	8
MUT:DNAH5:Pro3978Leu	PROT:Q8TE73	DNAH5	P	3978	L	P3978L	Likely benign	0	1	20	15
MUT:DNAH5:Pro4488Ser	PROT:Q8TE73	DNAH5	P	4488	S	P4488S	Likely benign	0	1	20	63
MUT:DNAH5:Pro4488Thr	PROT:Q8TE73	DNAH5	P	4488	T	P4488T	Benign	0	2	20	63
MUT:DNAH5:Pro4529Arg	PROT:Q8TE73	DNAH5	P	4529	R	P4529R	Likely benign	0	1	20	26
MUT:DNAH5:Pro701Ser	PROT:Q8TE73	DNAH5	P	701	S	P701S	Likely benign	0	1	20	357
MUT:DNAH5:Pro787Leu	PROT:Q8TE73	DNAH5	P	787	L	P787L	Likely benign	0	1	20	271
MUT:DNAH5:Ser1006Arg	PROT:Q8TE73	DNAH5	S	1006	R	S1006R	Likely benign	0	1	20	52
MUT:DNAH5:Ser1006Gly	PROT:Q8TE73	DNAH5	S	1006	G	S1006G	Benign/Likely benign	0	2	20	52
MUT:DNAH5:Ser13Asn	PROT:Q8TE73	DNAH5	S	13	N	S13N	Benign	0	1	20	10
MUT:DNAH5:Ser1577Asn	PROT:Q8TE73	DNAH5	S	1577	N	S1577N	Likely benign	0	1	20	40
MUT:DNAH5:Ser1674Ile	PROT:Q8TE73	DNAH5	S	1674	I	S1674I	Likely benign	0	1	20	137
MUT:DNAH5:Ser1764Pro	PROT:Q8TE73	DNAH5	S	1764	P	S1764P	Pathogenic/Likely pathogenic	1	3	20	227
MUT:DNAH5:Ser2264Asn	PROT:Q8TE73	DNAH5	S	2264	N	S2264N	Pathogenic	1	1	20	700
MUT:DNAH5:Ser2264Gly	PROT:Q8TE73	DNAH5	S	2264	G	S2264G	Likely benign	0	1	20	700
MUT:DNAH5:Ser2696Gly	PROT:Q8TE73	DNAH5	S	2696	G	S2696G	Likely benign	0	1	20	268
MUT:DNAH5:Ser295Tyr	PROT:Q8TE73	DNAH5	S	295	Y	S295Y	Likely benign	0	1	20	15
MUT:DNAH5:Ser3054Thr	PROT:Q8TE73	DNAH5	S	3054	T	S3054T	Likely benign	0	1	20	90
MUT:DNAH5:Ser3304Leu	PROT:Q8TE73	DNAH5	S	3304	L	S3304L	Benign	0	1	20	184
MUT:DNAH5:Ser382Asn	PROT:Q8TE73	DNAH5	S	382	N	S382N	Benign/Likely benign	0	1	20	62
MUT:DNAH5:Ser3963Leu	PROT:Q8TE73	DNAH5	S	3963	L	S3963L	Likely benign	0	1	20	0
MUT:DNAH5:Ser4058Pro	PROT:Q8TE73	DNAH5	S	4058	P	S4058P	Likely benign	0	1	20	95
MUT:DNAH5:Ser406Tyr	PROT:Q8TE73	DNAH5	S	406	Y	S406Y	Likely benign	0	1	20	86
MUT:DNAH5:Ser4293Asn	PROT:Q8TE73	DNAH5	S	4293	N	S4293N	Likely benign	0	2	20	34
MUT:DNAH5:Thr1033Asn	PROT:Q8TE73	DNAH5	T	1033	N	T1033N	Benign/Likely benign	0	1	20	25
MUT:DNAH5:Thr1158Ile	PROT:Q8TE73	DNAH5	T	1158	I	T1158I	Likely benign	0	1	20	100
MUT:DNAH5:Thr1684Ala	PROT:Q8TE73	DNAH5	T	1684	A	T1684A	Benign	0	1	20	147
MUT:DNAH5:Thr1684Asn	PROT:Q8TE73	DNAH5	T	1684	N	T1684N	Likely benign	0	1	20	147
MUT:DNAH5:Thr1737Ala	PROT:Q8TE73	DNAH5	T	1737	A	T1737A	Likely benign	0	1	20	200
MUT:DNAH5:Thr1772Met	PROT:Q8TE73	DNAH5	T	1772	M	T1772M	Likely benign	0	1	20	235
MUT:DNAH5:Thr1881Met	PROT:Q8TE73	DNAH5	T	1881	M	T1881M	Likely benign	0	1	20	344
MUT:DNAH5:Thr2066Ile	PROT:Q8TE73	DNAH5	T	2066	I	T2066I	Likely benign	0	1	20	529
MUT:DNAH5:Thr2164Ala	PROT:Q8TE73	DNAH5	T	2164	A	T2164A	Likely benign	0	1	20	627
MUT:DNAH5:Thr238Met	PROT:Q8TE73	DNAH5	T	238	M	T238M	Benign	0	1	20	72
MUT:DNAH5:Thr2540Met	PROT:Q8TE73	DNAH5	T	2540	M	T2540M	Likely benign	0	1	20	424
MUT:DNAH5:Thr2642Ala	PROT:Q8TE73	DNAH5	T	2642	A	T2642A	Likely benign	0	1	20	322
MUT:DNAH5:Thr2983Met	PROT:Q8TE73	DNAH5	T	2983	M	T2983M	Likely benign	0	1	20	19
MUT:DNAH5:Thr3066Ala	PROT:Q8TE73	DNAH5	T	3066	A	T3066A	Likely benign	0	1	20	102
MUT:DNAH5:Thr3171Ser	PROT:Q8TE73	DNAH5	T	3171	S	T3171S	Likely benign	0	2	20	207
MUT:DNAH5:Thr3717Ala	PROT:Q8TE73	DNAH5	T	3717	A	T3717A	Likely benign	0	1	20	27
MUT:DNAH5:Thr3791Ile	PROT:Q8TE73	DNAH5	T	3791	I	T3791I	Benign/Likely benign	0	2	20	40
MUT:DNAH5:Thr3796Ser	PROT:Q8TE73	DNAH5	T	3796	S	T3796S	Likely benign	0	1	20	45
MUT:DNAH5:Thr3821Met	PROT:Q8TE73	DNAH5	T	3821	M	T3821M	Likely benign	0	1	20	70
MUT:DNAH5:Thr3831Ser	PROT:Q8TE73	DNAH5	T	3831	S	T3831S	Benign	0	1	20	80
MUT:DNAH5:Thr3896Ala	PROT:Q8TE73	DNAH5	T	3896	A	T3896A	Likely benign	0	1	20	46
MUT:DNAH5:Thr3896Ile	PROT:Q8TE73	DNAH5	T	3896	I	T3896I	Likely benign	0	1	20	46
MUT:DNAH5:Thr4220Ala	PROT:Q8TE73	DNAH5	T	4220	A	T4220A	Benign	0	2	20	36
MUT:DNAH5:Thr4453Ile	PROT:Q8TE73	DNAH5	T	4453	I	T4453I	Benign	0	1	20	28
MUT:DNAH5:Thr544Ile	PROT:Q8TE73	DNAH5	T	544	I	T544I	Benign/Likely benign	0	2	20	224
MUT:DNAH5:Thr558Ala	PROT:Q8TE73	DNAH5	T	558	A	T558A	Benign	0	2	20	238
MUT:DNAH5:Thr565Ala	PROT:Q8TE73	DNAH5	T	565	A	T565A	Likely benign	0	1	20	245
MUT:DNAH5:Thr653Lys	PROT:Q8TE73	DNAH5	T	653	K	T653K	Benign	0	1	20	333
MUT:DNAH5:Thr806Ala	PROT:Q8TE73	DNAH5	T	806	A	T806A	Likely benign	0	1	20	252
MUT:DNAH5:Thr838Met	PROT:Q8TE73	DNAH5	T	838	M	T838M	Benign	0	1	20	220
MUT:DNAH5:Thr939Met	PROT:Q8TE73	DNAH5	T	939	M	T939M	Likely benign	0	1	20	119
MUT:DNAH5:Thr942Met	PROT:Q8TE73	DNAH5	T	942	M	T942M	Likely benign	0	1	20	116
MUT:DNAH5:Trp3409Ser	PROT:Q8TE73	DNAH5	W	3409	S	W3409S	Pathogenic/Likely pathogenic	1	1	20	79
MUT:DNAH5:Trp4545Arg	PROT:Q8TE73	DNAH5	W	4545	R	W4545R	Pathogenic/Likely pathogenic	1	1	20	10
MUT:DNAH5:Tyr1419His	PROT:Q8TE73	DNAH5	Y	1419	H	Y1419H	Likely benign	0	1	20	118
MUT:DNAH5:Tyr1759Asn	PROT:Q8TE73	DNAH5	Y	1759	N	Y1759N	Likely benign	0	1	20	222
MUT:DNAH5:Tyr411Cys	PROT:Q8TE73	DNAH5	Y	411	C	Y411C	Benign	0	1	20	91
MUT:DNAH5:Tyr4165His	PROT:Q8TE73	DNAH5	Y	4165	H	Y4165H	Pathogenic	1	1	20	91
MUT:DNAH5:Tyr4308Cys	PROT:Q8TE73	DNAH5	Y	4308	C	Y4308C	Benign/Likely benign	0	2	20	37
MUT:DNAH5:Tyr84Cys	PROT:Q8TE73	DNAH5	Y	84	C	Y84C	Benign	0	1	20	61
MUT:DNAH5:Val1014Ile	PROT:Q8TE73	DNAH5	V	1014	I	V1014I	Likely benign	0	1	20	44
MUT:DNAH5:Val1038Met	PROT:Q8TE73	DNAH5	V	1038	M	V1038M	Benign/Likely benign	0	2	20	20
MUT:DNAH5:Val1048Ile	PROT:Q8TE73	DNAH5	V	1048	I	V1048I	Likely benign	0	1	20	10
MUT:DNAH5:Val1101Met	PROT:Q8TE73	DNAH5	V	1101	M	V1101M	Benign/Likely benign	0	2	20	43
MUT:DNAH5:Val115Met	PROT:Q8TE73	DNAH5	V	115	M	V115M	Benign	0	1	20	92
MUT:DNAH5:Val1215Phe	PROT:Q8TE73	DNAH5	V	1215	F	V1215F	Likely benign	0	1	20	157
MUT:DNAH5:Val128Glu	PROT:Q8TE73	DNAH5	V	128	E	V128E	Likely benign	0	1	20	105
MUT:DNAH5:Val1335Met	PROT:Q8TE73	DNAH5	V	1335	M	V1335M	Likely benign	0	1	20	202
MUT:DNAH5:Val1426Ile	PROT:Q8TE73	DNAH5	V	1426	I	V1426I	Likely benign	0	1	20	111
MUT:DNAH5:Val1720Ile	PROT:Q8TE73	DNAH5	V	1720	I	V1720I	Likely benign	0	1	20	183
MUT:DNAH5:Val1873Ile	PROT:Q8TE73	DNAH5	V	1873	I	V1873I	Likely benign	0	1	20	336
MUT:DNAH5:Val1894Met	PROT:Q8TE73	DNAH5	V	1894	M	V1894M	Likely benign	0	1	20	357
MUT:DNAH5:Val209Ile	PROT:Q8TE73	DNAH5	V	209	I	V209I	Benign	0	1	20	101
MUT:DNAH5:Val2128Ile	PROT:Q8TE73	DNAH5	V	2128	I	V2128I	Likely benign	0	1	20	591
MUT:DNAH5:Val2307Ile	PROT:Q8TE73	DNAH5	V	2307	I	V2307I	Benign/Likely benign	0	2	20	657
MUT:DNAH5:Val2698Met	PROT:Q8TE73	DNAH5	V	2698	M	V2698M	Likely benign	0	1	20	266
MUT:DNAH5:Val2939Ile	PROT:Q8TE73	DNAH5	V	2939	I	V2939I	Likely benign	0	1	20	25
MUT:DNAH5:Val2955Ile	PROT:Q8TE73	DNAH5	V	2955	I	V2955I	Likely benign	0	1	20	9
MUT:DNAH5:Val2955Leu	PROT:Q8TE73	DNAH5	V	2955	L	V2955L	Likely benign	0	1	20	9
MUT:DNAH5:Val309Ala	PROT:Q8TE73	DNAH5	V	309	A	V309A	Likely benign	0	1	20	1
MUT:DNAH5:Val309Leu	PROT:Q8TE73	DNAH5	V	309	L	V309L	Likely benign	0	1	20	1
MUT:DNAH5:Val3431Ala	PROT:Q8TE73	DNAH5	V	3431	A	V3431A	Likely benign	0	1	20	57
MUT:DNAH5:Val3461Ala	PROT:Q8TE73	DNAH5	V	3461	A	V3461A	Benign	0	1	20	27
MUT:DNAH5:Val3686Met	PROT:Q8TE73	DNAH5	V	3686	M	V3686M	Likely benign	0	1	20	44
MUT:DNAH5:Val3784Met	PROT:Q8TE73	DNAH5	V	3784	M	V3784M	Likely benign	0	1	20	33
MUT:DNAH5:Val3807Leu	PROT:Q8TE73	DNAH5	V	3807	L	V3807L	Likely benign	0	1	20	56
MUT:DNAH5:Val4017Gly	PROT:Q8TE73	DNAH5	V	4017	G	V4017G	Likely benign	0	1	20	54
MUT:DNAH5:Val4295Met	PROT:Q8TE73	DNAH5	V	4295	M	V4295M	Likely benign	0	1	20	36
MUT:DNAH5:Val4332Met	PROT:Q8TE73	DNAH5	V	4332	M	V4332M	Likely benign	0	1	20	13
MUT:DNAH5:Val4559Leu	PROT:Q8TE73	DNAH5	V	4559	L	V4559L	Likely benign	0	1	20	4
MUT:DNAH5:Val4566Ala	PROT:Q8TE73	DNAH5	V	4566	A	V4566A	Likely benign	0	1	20	11
MUT:DNAH5:Val4566Leu	PROT:Q8TE73	DNAH5	V	4566	L	V4566L	Likely benign	0	1	20	11
MUT:DNAH5:Val650Met	PROT:Q8TE73	DNAH5	V	650	M	V650M	Likely benign	0	1	20	330
MUT:DNAH5:Val941Ile	PROT:Q8TE73	DNAH5	V	941	I	V941I	Likely benign	0	1	20	117
MUT:DNAI1:Ala538Thr	PROT:Q9UI46	DNAI1	A	538	T	A538T	Pathogenic	1	3	3	359
MUT:DNAI1:Ala538Val	PROT:Q9UI46	DNAI1	A	538	V	A538V	Likely pathogenic	1	1	3	359
MUT:DNAI1:Ala60Val	PROT:Q9UI46	DNAI1	A	60	V	A60V	Benign/Likely benign	0	2	3	71
MUT:DNAI1:Ala626Val	PROT:Q9UI46	DNAI1	A	626	V	A626V	Likely benign	0	2	3	447
MUT:DNAI1:Ala8Ser	PROT:Q9UI46	DNAI1	A	8	S	A8S	Benign/Likely benign	0	1	3	123
MUT:DNAI1:Arg288Trp	PROT:Q9UI46	DNAI1	R	288	W	R288W	Benign/Likely benign	0	2	3	109
MUT:DNAI1:Arg332Cys	PROT:Q9UI46	DNAI1	R	332	C	R332C	Likely benign	0	1	3	153
MUT:DNAI1:Asp562Asn	PROT:Q9UI46	DNAI1	D	562	N	D562N	Pathogenic/Likely pathogenic	1	2	3	383
MUT:DNAI1:Cys388Phe	PROT:Q9UI46	DNAI1	C	388	F	C388F	Likely pathogenic	1	1	3	209
MUT:DNAI1:Gln326His	PROT:Q9UI46	DNAI1	Q	326	H	Q326H	Benign/Likely benign	0	2	3	147
MUT:DNAI1:Gly402Cys	PROT:Q9UI46	DNAI1	G	402	C	G402C	Likely pathogenic	1	1	3	223
MUT:DNAI1:Gly402Val	PROT:Q9UI46	DNAI1	G	402	V	G402V	Likely pathogenic	1	1	3	223
MUT:DNAI1:Gly497Asp	PROT:Q9UI46	DNAI1	G	497	D	G497D	Pathogenic/Likely pathogenic	1	3	3	318
MUT:DNAI1:Gly497Val	PROT:Q9UI46	DNAI1	G	497	V	G497V	Pathogenic	1	1	3	318
MUT:DNAI1:Gly515Ser	PROT:Q9UI46	DNAI1	G	515	S	G515S	Pathogenic/Likely pathogenic	1	3	3	336
MUT:DNAI1:Ile391Met	PROT:Q9UI46	DNAI1	I	391	M	I391M	Likely benign	0	1	3	212
MUT:DNAI1:Ile473Thr	PROT:Q9UI46	DNAI1	I	473	T	I473T	Likely benign	0	1	3	294
MUT:DNAI1:Ile473Val	PROT:Q9UI46	DNAI1	I	473	V	I473V	Benign/Likely benign	0	1	3	294
MUT:DNAI1:Ile609Val	PROT:Q9UI46	DNAI1	I	609	V	I609V	Likely benign	0	1	3	430
MUT:DNAI1:Ile654Thr	PROT:Q9UI46	DNAI1	I	654	T	I654T	Likely benign	0	1	3	475
MUT:DNAI1:Lys113Arg	PROT:Q9UI46	DNAI1	K	113	R	K113R	Likely benign	0	1	3	18
MUT:DNAI1:Lys667Glu	PROT:Q9UI46	DNAI1	K	667	E	K667E	Likely benign	0	1	3	488
MUT:DNAI1:Met1Val	PROT:Q9UI46	DNAI1	M	1	V	M1V	Pathogenic	1	1	3	130
MUT:DNAI1:Met269Val	PROT:Q9UI46	DNAI1	M	269	V	M269V	Likely benign	0	1	3	90
MUT:DNAI1:Phe451Tyr	PROT:Q9UI46	DNAI1	F	451	Y	F451Y	Pathogenic/Likely pathogenic	1	2	3	272
MUT:DNAI1:Thr535Asn	PROT:Q9UI46	DNAI1	T	535	N	T535N	Benign/Likely benign	0	1	3	356
MUT:DNAI1:Val335Ile	PROT:Q9UI46	DNAI1	V	335	I	V335I	Benign/Likely benign	0	2	3	156
MUT:DNAI1:Val393Met	PROT:Q9UI46	DNAI1	V	393	M	V393M	Likely benign	0	1	3	214
MUT:DNAI1:Val487Gly	PROT:Q9UI46	DNAI1	V	487	G	V487G	Benign/Likely benign	0	2	3	308
MUT:DNAI2:Ala317Thr	PROT:Q9GZS0	DNAI2	A	317	T	A317T	Benign/Likely benign	0	2	5	88
MUT:DNAI2:Ala543Glu	PROT:Q9GZS0	DNAI2	A	543	E	A543E	Likely benign	0	1	5	21
MUT:DNAI2:Ala558Thr	PROT:Q9GZS0	DNAI2	A	558	T	A558T	Benign	0	2	5	36
MUT:DNAI2:Arg247Gln	PROT:Q9GZS0	DNAI2	R	247	Q	R247Q	Pathogenic/Likely pathogenic	1	2	5	158
MUT:DNAI2:Arg97Gln	PROT:Q9GZS0	DNAI2	R	97	Q	R97Q	Likely benign	0	1	5	90
MUT:DNAI2:Asp197Val	PROT:Q9GZS0	DNAI2	D	197	V	D197V	Benign/Likely benign	0	2	5	190
MUT:DNAI2:Asp554Asn	PROT:Q9GZS0	DNAI2	D	554	N	D554N	Benign/Likely benign	0	2	5	32
MUT:DNAI2:Gly234Asp	PROT:Q9GZS0	DNAI2	G	234	D	G234D	Pathogenic	1	1	5	171
MUT:DNAI2:Gly474Arg	PROT:Q9GZS0	DNAI2	G	474	R	G474R	Pathogenic	1	1	5	48
MUT:DNAI2:Ile29Val	PROT:Q9GZS0	DNAI2	I	29	V	I29V	Likely benign	0	1	5	22
MUT:DNAI2:Ile343Ser	PROT:Q9GZS0	DNAI2	I	343	S	I343S	Likely pathogenic	1	1	5	62
MUT:DNAI2:Leu488Phe	PROT:Q9GZS0	DNAI2	L	488	F	L488F	Benign/Likely benign	0	2	5	34
MUT:DNAI2:Met499Ile	PROT:Q9GZS0	DNAI2	M	499	I	M499I	Likely benign	0	1	5	23
MUT:DNAI2:Pro330Leu	PROT:Q9GZS0	DNAI2	P	330	L	P330L	Likely benign	0	1	5	75
MUT:DNAI2:Ser229Ala	PROT:Q9GZS0	DNAI2	S	229	A	S229A	Benign	0	1	5	176
MUT:DNAI2:Thr431Ala	PROT:Q9GZS0	DNAI2	T	431	A	T431A	Likely benign	0	1	5	22
MUT:DNAI2:Val422Ile	PROT:Q9GZS0	DNAI2	V	422	I	V422I	Likely benign	0	1	5	13
MUT:DNAI2:Val42Met	PROT:Q9GZS0	DNAI2	V	42	M	V42M	Benign/Likely benign	0	2	5	35
MUT:DNAI2:Val495Ile	PROT:Q9GZS0	DNAI2	V	495	I	V495I	Benign	0	2	5	27
MUT:DNAI2:Val584Ala	PROT:Q9GZS0	DNAI2	V	584	A	V584A	Likely benign	0	1	5	62
MUT:DNAJB13:Met278Arg	PROT:P59910	DNAJB13	M	278	R	M278R	Pathogenic	1	1	1	254
MUT:DNAJB13:Ser7Thr	PROT:P59910	DNAJB13	S	7	T	S7T	Benign/Likely benign	0	1	1	17
MUT:DNAJB13:Val91Gly	PROT:P59910	DNAJB13	V	91	G	V91G	Likely benign	0	1	1	67
MUT:DNAJB2:Arg277Gln	PROT:P25686	DNAJB2	R	277	Q	R277Q	Likely benign	0	1	4	262
MUT:DNAJB2:Arg310His	PROT:P25686	DNAJB2	R	310	H	R310H	Likely benign	0	1	4	295
MUT:DNAJB2:Gln235Glu	PROT:P25686	DNAJB2	Q	235	E	Q235E	Likely benign	0	3	4	220
MUT:DNAJB2:Gln280Arg	PROT:P25686	DNAJB2	Q	280	R	Q280R	Likely benign	0	1	4	265
MUT:DNAJB2:Glu100Lys	PROT:P25686	DNAJB2	E	100	K	E100K	Benign/Likely benign	0	3	4	85
MUT:DNAJB2:Glu253Lys	PROT:P25686	DNAJB2	E	253	K	E253K	Likely pathogenic	1	1	4	238
MUT:DNAJB2:Gly270Arg	PROT:P25686	DNAJB2	G	270	R	G270R	Benign	0	1	4	255
MUT:DNAJB2:Tyr5Cys	PROT:P25686	DNAJB2	Y	5	C	Y5C	Likely pathogenic	1	3	4	2
MUT:DNAJB4:Arg25Gln	PROT:Q9UDY4	DNAJB4	R	25	Q	R25Q	Pathogenic	1	1	20	1
MUT:DNAJB4:Arg61Gly	PROT:Q9UDY4	DNAJB4	R	61	G	R61G	Pathogenic	1	1	20	1
MUT:DNAJB4:Leu262Ser	PROT:Q9UDY4	DNAJB4	L	262	S	L262S	Pathogenic	1	1	20	10
MUT:DNAJC12:Arg72Pro	PROT:Q9UKB3	DNAJC12	R	72	P	R72P	Pathogenic	1	1	2	94
MUT:DNAJC12:Trp103Cys	PROT:Q9UKB3	DNAJC12	W	103	C	W103C	Pathogenic	1	1	2	63
MUT:DNAJC21:Arg254Lys	PROT:Q5F1R6	DNAJC21	R	254	K	R254K	Likely benign	0	1	17	23
MUT:DNAJC21:Arg274Gln	PROT:Q5F1R6	DNAJC21	R	274	Q	R274Q	Benign/Likely benign	0	1	17	9
MUT:DNAJC21:Asn516Ser	PROT:Q5F1R6	DNAJC21	N	516	S	N516S	Benign/Likely benign	0	2	17	2
MUT:DNAJC21:Glu433Lys	PROT:Q5F1R6	DNAJC21	E	433	K	E433K	Benign/Likely benign	0	1	17	10
MUT:DNAJC21:Lys34Glu	PROT:Q5F1R6	DNAJC21	K	34	E	K34E	Pathogenic	1	1	17	0
MUT:DNAJC21:Pro32Ala	PROT:Q5F1R6	DNAJC21	P	32	A	P32A	Likely pathogenic	1	2	17	2
MUT:DNAJC21:Thr462Ala	PROT:Q5F1R6	DNAJC21	T	462	A	T462A	Likely benign	0	1	17	13
MUT:DNAJC30:Leu101Gln	PROT:Q96LL9	DNAJC30	L	101	Q	L101Q	Pathogenic	1	1	1	62
MUT:DNAJC30:Pro78Ser	PROT:Q96LL9	DNAJC30	P	78	S	P78S	Pathogenic	1	1	1	39
MUT:DNAJC30:Tyr51Cys	PROT:Q96LL9	DNAJC30	Y	51	C	Y51C	Pathogenic/Likely pathogenic	1	6	1	12
MUT:DNAJC30:Tyr98Ser	PROT:Q96LL9	DNAJC30	Y	98	S	Y98S	Likely pathogenic	1	1	1	59
MUT:DNAJC3:Asp441Glu	PROT:Q13217	DNAJC3	D	441	E	D441E	Likely benign	0	1	15	5
MUT:DNAJC3:Glu354Gln	PROT:Q13217	DNAJC3	E	354	Q	E354Q	Benign/Likely benign	0	1	15	10
MUT:DNAJC3:Met1Val	PROT:Q13217	DNAJC3	M	1	V	M1V	Pathogenic	1	1	15	87
MUT:DNAJC3:Val306Ile	PROT:Q13217	DNAJC3	V	306	I	V306I	Likely benign	0	1	15	1
MUT:DNAL1:Asn150Ser	PROT:Q4LDG9	DNAL1	N	150	S	N150S	Pathogenic	1	2	3	5
MUT:DNAL1:Leu176Pro	PROT:Q4LDG9	DNAL1	L	176	P	L176P	Likely pathogenic	1	1	3	21
MUT:DNASE1:Arg244Gln	PROT:P24855	DNASE1	R	244	Q	R244Q	Benign	0	2	4	192
MUT:DNASE1:Arg469His	PROT:P24855	DNASE1	R	469	H	R469H	Benign/Likely benign	0	2	4	417
MUT:DNASE1:Gly127Arg	PROT:P24855	DNASE1	G	127	R	G127R	Benign/Likely benign	0	1	4	75
MUT:DNASE1:Pro154Ala	PROT:P24855	DNASE1	P	154	A	P154A	Benign	0	1	4	102
MUT:DNASE1:Val185Ile	PROT:P24855	DNASE1	V	185	I	V185I	Likely benign	0	1	4	133
MUT:DNASE1L3:Asn191Ser	PROT:Q13609	DNASE1L3	N	191	S	N191S	Pathogenic	1	1	1	112
MUT:DNASE1L3:Ile151Val	PROT:Q13609	DNASE1L3	I	151	V	I151V	Likely benign	0	1	1	72
MUT:DNASE2:Asp121Val	PROT:O00115	DNASE2	D	121	V	D121V	Pathogenic	1	1	2	51
MUT:DNASE2:Gly116Ala	PROT:O00115	DNASE2	G	116	A	G116A	Pathogenic	1	1	2	46
MUT:DNASE2:Tyr95Cys	PROT:O00115	DNASE2	Y	95	C	Y95C	Pathogenic	1	1	2	25
MUT:DNMBP:Arg1101Gln	PROT:Q6XZF7	DNMBP	R	1101	Q	R1101Q	Benign	0	1	30	14
MUT:DNMBP:Asn1483Ser	PROT:Q6XZF7	DNMBP	N	1483	S	N1483S	Likely benign	0	1	30	76
MUT:DNMBP:Asn373Lys	PROT:Q6XZF7	DNMBP	N	373	K	N373K	Benign	0	1	30	49
MUT:DNMBP:Asn914Lys	PROT:Q6XZF7	DNMBP	N	914	K	N914K	Benign	0	1	30	62
MUT:DNMBP:Cys1413Trp	PROT:Q6XZF7	DNMBP	C	1413	W	C1413W	Benign	0	2	30	6
MUT:DNMBP:Glu265Lys	PROT:Q6XZF7	DNMBP	E	265	K	E265K	Likely benign	0	1	30	51
MUT:DNMBP:Glu81Asp	PROT:Q6XZF7	DNMBP	E	81	D	E81D	Benign	0	1	30	16
MUT:DNMBP:Lys661Arg	PROT:Q6XZF7	DNMBP	K	661	R	K661R	Benign	0	1	30	2
MUT:DNMBP:Met831Thr	PROT:Q6XZF7	DNMBP	M	831	T	M831T	Benign	0	1	30	142
MUT:DNMBP:Pro820Leu	PROT:Q6XZF7	DNMBP	P	820	L	P820L	Benign	0	1	30	131
MUT:DNMBP:Ser593Leu	PROT:Q6XZF7	DNMBP	S	593	L	S593L	Likely benign	0	1	30	1
MUT:DOCK11:Arg1366Gln	PROT:Q5JSL3	DOCK11	R	1366	Q	R1366Q	Pathogenic	1	2	28	14
MUT:DOCK11:Arg1885Cys	PROT:Q5JSL3	DOCK11	R	1885	C	R1885C	Likely pathogenic	1	2	28	132
MUT:DOCK11:Asp414Tyr	PROT:Q5JSL3	DOCK11	D	414	Y	D414Y	Pathogenic	1	3	28	23
MUT:DOCK11:His1336Arg	PROT:Q5JSL3	DOCK11	H	1336	R	H1336R	Pathogenic	1	1	28	14
MUT:DOCK11:Leu1298Arg	PROT:Q5JSL3	DOCK11	L	1298	R	L1298R	Pathogenic	1	2	28	52
MUT:DOCK11:Leu1706Ser	PROT:Q5JSL3	DOCK11	L	1706	S	L1706S	Pathogenic	1	1	28	64
MUT:DOCK11:Ser842Leu	PROT:Q5JSL3	DOCK11	S	842	L	S842L	Likely benign	0	1	28	305
MUT:DOCK11:Thr275Ser	PROT:Q5JSL3	DOCK11	T	275	S	T275S	Pathogenic	1	2	28	9
MUT:DOCK11:Trp1707Ser	PROT:Q5JSL3	DOCK11	W	1707	S	W1707S	Pathogenic	1	2	28	65
MUT:DOCK11:Tyr108Cys	PROT:Q5JSL3	DOCK11	Y	108	C	Y108C	Likely pathogenic	1	1	28	21
MUT:DOCK2:Ala1816Ser	PROT:Q92608	DOCK2	A	1816	S	A1816S	Benign/Likely benign	0	1	114	2
MUT:DOCK2:Ala312Thr	PROT:Q92608	DOCK2	A	312	T	A312T	Likely benign	0	1	114	4
MUT:DOCK2:Arg1104Trp	PROT:Q92608	DOCK2	R	1104	W	R1104W	Likely pathogenic	1	1	114	23
MUT:DOCK2:Arg1782Cys	PROT:Q92608	DOCK2	R	1782	C	R1782C	Benign/Likely benign	0	1	114	2
MUT:DOCK2:Arg214Trp	PROT:Q92608	DOCK2	R	214	W	R214W	Benign	0	1	114	2
MUT:DOCK2:Arg74Lys	PROT:Q92608	DOCK2	R	74	K	R74K	Likely benign	0	1	114	7
MUT:DOCK2:Arg751Ser	PROT:Q92608	DOCK2	R	751	S	R751S	Pathogenic	1	1	114	4
MUT:DOCK2:Asn1652Ser	PROT:Q92608	DOCK2	N	1652	S	N1652S	Benign	0	1	114	8
MUT:DOCK2:Met1511Ile	PROT:Q92608	DOCK2	M	1511	I	M1511I	Likely benign	0	1	114	37
MUT:DOCK2:Met211Val	PROT:Q92608	DOCK2	M	211	V	M211V	Benign/Likely benign	0	2	114	1
MUT:DOCK2:Met473Val	PROT:Q92608	DOCK2	M	473	V	M473V	Benign	0	1	114	2
MUT:DOCK2:Met535Val	PROT:Q92608	DOCK2	M	535	V	M535V	Likely benign	0	1	114	1
MUT:DOCK2:Met808Thr	PROT:Q92608	DOCK2	M	808	T	M808T	Likely benign	0	1	114	27
MUT:DOCK2:Pro1658Ala	PROT:Q92608	DOCK2	P	1658	A	P1658A	Likely benign	0	1	114	14
MUT:DOCK2:Pro1676Arg	PROT:Q92608	DOCK2	P	1676	R	P1676R	Likely benign	0	2	114	4
MUT:DOCK2:Pro1683Leu	PROT:Q92608	DOCK2	P	1683	L	P1683L	Likely benign	0	1	114	2
MUT:DOCK2:Ser1659Thr	PROT:Q92608	DOCK2	S	1659	T	S1659T	Benign/Likely benign	0	1	114	13
MUT:DOCK2:Thr1279Met	PROT:Q92608	DOCK2	T	1279	M	T1279M	Likely benign	0	2	114	11
MUT:DOCK2:Thr1380Ser	PROT:Q92608	DOCK2	T	1380	S	T1380S	Likely benign	0	1	114	7
MUT:DOCK2:Thr1675Met	PROT:Q92608	DOCK2	T	1675	M	T1675M	Benign	0	1	114	3
MUT:DOCK2:Thr1779Ser	PROT:Q92608	DOCK2	T	1779	S	T1779S	Benign	0	1	114	1
MUT:DOCK2:Thr251Met	PROT:Q92608	DOCK2	T	251	M	T251M	Benign/Likely benign	0	1	114	17
MUT:DOCK4:Arg960Ser	PROT:Q8N1I0	DOCK4	R	960	S	R960S	Benign/Likely benign	0	1	21	139
MUT:DOCK4:Gly1056Glu	PROT:Q8N1I0	DOCK4	G	1056	E	G1056E	Likely benign	0	1	21	53
MUT:DOCK4:Ile1067Thr	PROT:Q8N1I0	DOCK4	I	1067	T	I1067T	Likely pathogenic	1	1	21	42
MUT:DOCK4:Met1044Thr	PROT:Q8N1I0	DOCK4	M	1044	T	M1044T	Likely pathogenic	1	1	21	65
MUT:DOCK4:Ser1913Asn	PROT:Q8N1I0	DOCK4	S	1913	N	S1913N	Likely benign	0	1	21	8
MUT:DOCK4:Ser1935Leu	PROT:Q8N1I0	DOCK4	S	1935	L	S1935L	Benign	0	1	21	14
MUT:DOCK4:Thr982Ile	PROT:Q8N1I0	DOCK4	T	982	I	T982I	Likely pathogenic	1	1	21	127
MUT:DOCK8:Ala1970Pro	PROT:Q8NF50	DOCK8	A	1970	P	A1970P	Benign/Likely benign	0	1	25	41
MUT:DOCK8:Ala22Val	PROT:Q8NF50	DOCK8	A	22	V	A22V	Benign/Likely benign	0	1	25	2
MUT:DOCK8:Ala318Thr	PROT:Q8NF50	DOCK8	A	318	T	A318T	Benign/Likely benign	0	1	25	120
MUT:DOCK8:Ala597Val	PROT:Q8NF50	DOCK8	A	597	V	A597V	Benign/Likely benign	0	7	25	116
MUT:DOCK8:Ala637Val	PROT:Q8NF50	DOCK8	A	637	V	A637V	Likely benign	0	1	25	76
MUT:DOCK8:Ala849Thr	PROT:Q8NF50	DOCK8	A	849	T	A849T	Likely benign	0	1	25	38
MUT:DOCK8:Arg1008Trp	PROT:Q8NF50	DOCK8	R	1008	W	R1008W	Benign/Likely benign	0	1	25	71
MUT:DOCK8:Asn1070Asp	PROT:Q8NF50	DOCK8	N	1070	D	N1070D	Benign/Likely benign	0	1	25	75
MUT:DOCK8:Asn413Ser	PROT:Q8NF50	DOCK8	N	413	S	N413S	Benign/Likely benign	0	2	25	25
MUT:DOCK8:Asp115His	PROT:Q8NF50	DOCK8	D	115	H	D115H	Likely benign	0	1	25	24
MUT:DOCK8:Asp292Asn	PROT:Q8NF50	DOCK8	D	292	N	D292N	Likely benign	0	1	25	146
MUT:DOCK8:Asp63Asn	PROT:Q8NF50	DOCK8	D	63	N	D63N	Benign/Likely benign	0	1	25	43
MUT:DOCK8:Glu227Lys	PROT:Q8NF50	DOCK8	E	227	K	E227K	Benign/Likely benign	0	2	25	88
MUT:DOCK8:Glu237Lys	PROT:Q8NF50	DOCK8	E	237	K	E237K	Benign/Likely benign	0	1	25	98
MUT:DOCK8:Ile1189Val	PROT:Q8NF50	DOCK8	I	1189	V	I1189V	Benign/Likely benign	0	1	25	44
MUT:DOCK8:Leu1530Val	PROT:Q8NF50	DOCK8	L	1530	V	L1530V	Benign	0	2	25	98
MUT:DOCK8:Lys473Arg	PROT:Q8NF50	DOCK8	K	473	R	K473R	Pathogenic	1	2	25	22
MUT:DOCK8:Pro364Arg	PROT:Q8NF50	DOCK8	P	364	R	P364R	Likely benign	0	1	25	74
MUT:DOCK8:Pro97Thr	PROT:Q8NF50	DOCK8	P	97	T	P97T	Benign	0	1	25	42
MUT:DOCK8:Ser1077Asn	PROT:Q8NF50	DOCK8	S	1077	N	S1077N	Benign/Likely benign	0	1	25	68
MUT:DOCK8:Ser469Asn	PROT:Q8NF50	DOCK8	S	469	N	S469N	Likely benign	0	1	25	18
MUT:DOCK8:Thr157Met	PROT:Q8NF50	DOCK8	T	157	M	T157M	Benign/Likely benign	0	2	25	18
MUT:DOCK8:Thr366Met	PROT:Q8NF50	DOCK8	T	366	M	T366M	Likely benign	0	1	25	72
MUT:DOCK8:Thr3Ser	PROT:Q8NF50	DOCK8	T	3	S	T3S	Benign	0	1	25	0
MUT:DOCK8:Val1027Ile	PROT:Q8NF50	DOCK8	V	1027	I	V1027I	Benign/Likely benign	0	1	25	90
MUT:DOCK8:Val1276Leu	PROT:Q8NF50	DOCK8	V	1276	L	V1276L	Likely benign	0	2	25	3
MUT:DOCK8:Val194Ile	PROT:Q8NF50	DOCK8	V	194	I	V194I	Benign/Likely benign	0	1	25	55
MUT:DOCK8:Val852Leu	PROT:Q8NF50	DOCK8	V	852	L	V852L	Likely benign	0	1	25	35
MUT:DOP1B:Leu782Val	PROT:Q9Y3R5	DOP1B	L	782	V	L782V	Benign	0	5	24	67
MUT:DOT1L:Ala1041Ser	PROT:Q8TEK3	DOT1L	A	1041	S	A1041S	Likely benign	0	1	27	18
MUT:DOT1L:Ala1101Thr	PROT:Q8TEK3	DOT1L	A	1101	T	A1101T	Likely benign	0	1	27	1
MUT:DOT1L:Ala1230Thr	PROT:Q8TEK3	DOT1L	A	1230	T	A1230T	Likely benign	0	1	27	16
MUT:DOT1L:Ala1266Thr	PROT:Q8TEK3	DOT1L	A	1266	T	A1266T	Likely benign	0	1	27	20
MUT:DOT1L:Ala1451Pro	PROT:Q8TEK3	DOT1L	A	1451	P	A1451P	Likely benign	0	1	27	96
MUT:DOT1L:Ala1451Thr	PROT:Q8TEK3	DOT1L	A	1451	T	A1451T	Likely benign	0	1	27	96
MUT:DOT1L:Ala368Thr	PROT:Q8TEK3	DOT1L	A	368	T	A368T	Likely benign	0	1	27	6
MUT:DOT1L:Ala370Thr	PROT:Q8TEK3	DOT1L	A	370	T	A370T	Likely benign	0	1	27	4
MUT:DOT1L:Ala523Thr	PROT:Q8TEK3	DOT1L	A	523	T	A523T	Likely benign	0	1	27	73
MUT:DOT1L:Ala668Thr	PROT:Q8TEK3	DOT1L	A	668	T	A668T	Likely benign	0	1	27	72
MUT:DOT1L:Ala796Val	PROT:Q8TEK3	DOT1L	A	796	V	A796V	Likely benign	0	1	27	26
MUT:DOT1L:Ala897Val	PROT:Q8TEK3	DOT1L	A	897	V	A897V	Likely benign	0	1	27	2
MUT:DOT1L:Arg1072His	PROT:Q8TEK3	DOT1L	R	1072	H	R1072H	Likely benign	0	1	27	13
MUT:DOT1L:Arg1276Trp	PROT:Q8TEK3	DOT1L	R	1276	W	R1276W	Likely benign	0	1	27	30
MUT:DOT1L:Arg590His	PROT:Q8TEK3	DOT1L	R	590	H	R590H	Likely benign	0	1	27	6
MUT:DOT1L:Arg757Gln	PROT:Q8TEK3	DOT1L	R	757	Q	R757Q	Likely benign	0	1	27	65
MUT:DOT1L:Arg853Cys	PROT:Q8TEK3	DOT1L	R	853	C	R853C	Pathogenic	1	1	27	27
MUT:DOT1L:Asn1237Ser	PROT:Q8TEK3	DOT1L	N	1237	S	N1237S	Likely benign	0	1	27	9
MUT:DOT1L:Asp1161Asn	PROT:Q8TEK3	DOT1L	D	1161	N	D1161N	Likely benign	0	1	27	57
MUT:DOT1L:Asp157Asn	PROT:Q8TEK3	DOT1L	D	157	N	D157N	Pathogenic	1	1	27	73
MUT:DOT1L:Asp369Glu	PROT:Q8TEK3	DOT1L	D	369	E	D369E	Likely benign	0	1	27	5
MUT:DOT1L:Cys45Gly	PROT:Q8TEK3	DOT1L	C	45	G	C45G	Pathogenic	1	2	27	22
MUT:DOT1L:Glu123Lys	PROT:Q8TEK3	DOT1L	E	123	K	E123K	Pathogenic	1	1	27	39
MUT:DOT1L:Glu129Lys	PROT:Q8TEK3	DOT1L	E	129	K	E129K	Pathogenic	1	1	27	45
MUT:DOT1L:Gly594Ser	PROT:Q8TEK3	DOT1L	G	594	S	G594S	Likely benign	0	1	27	2
MUT:DOT1L:Gly719Ser	PROT:Q8TEK3	DOT1L	G	719	S	G719S	Likely benign	0	1	27	103
MUT:DOT1L:Leu626Val	PROT:Q8TEK3	DOT1L	L	626	V	L626V	Pathogenic	1	1	27	30
MUT:DOT1L:Lys1025Met	PROT:Q8TEK3	DOT1L	K	1025	M	K1025M	Pathogenic	1	1	27	16
MUT:DOT1L:Met823Ile	PROT:Q8TEK3	DOT1L	M	823	I	M823I	Likely benign	0	1	27	1
MUT:DOT1L:Pro1404Ser	PROT:Q8TEK3	DOT1L	P	1404	S	P1404S	Likely benign	0	1	27	49
MUT:DOT1L:Pro962Leu	PROT:Q8TEK3	DOT1L	P	962	L	P962L	Likely benign	0	1	27	39
MUT:DOT1L:Ser510Asn	PROT:Q8TEK3	DOT1L	S	510	N	S510N	Likely benign	0	1	27	62
MUT:DOT1L:Thr100Met	PROT:Q8TEK3	DOT1L	T	100	M	T100M	Pathogenic	1	1	27	16
MUT:DOT1L:Thr1400Ala	PROT:Q8TEK3	DOT1L	T	1400	A	T1400A	Likely benign	0	1	27	45
MUT:DOT1L:Thr957Ile	PROT:Q8TEK3	DOT1L	T	957	I	T957I	Likely benign	0	1	27	44
MUT:DOT1L:Val467Ala	PROT:Q8TEK3	DOT1L	V	467	A	V467A	Likely benign	0	1	27	19
MUT:DPF2:Ala3Gly	PROT:Q92785	DPF2	A	3	G	A3G	Likely benign	0	1	22	56
MUT:DPF2:Arg300Leu	PROT:Q92785	DPF2	R	300	L	R300L	Likely pathogenic	1	1	22	15
MUT:DPF2:Arg350His	PROT:Q92785	DPF2	R	350	H	R350H	Likely pathogenic	1	1	22	8
MUT:DPF2:Asp346Gly	PROT:Q92785	DPF2	D	346	G	D346G	Pathogenic	1	1	22	12
MUT:DPF2:Cys276Phe	PROT:Q92785	DPF2	C	276	F	C276F	Pathogenic	1	2	22	4
MUT:DPF2:Cys324Gly	PROT:Q92785	DPF2	C	324	G	C324G	Likely pathogenic	1	1	22	34
MUT:DPF2:Cys330Trp	PROT:Q92785	DPF2	C	330	W	C330W	Pathogenic	1	1	22	28
MUT:DPF2:Cys345Gly	PROT:Q92785	DPF2	C	345	G	C345G	Likely pathogenic	1	1	22	13
MUT:DPF2:Cys356Gly	PROT:Q92785	DPF2	C	356	G	C356G	Pathogenic	1	1	22	2
MUT:DPF2:Cys356Ser	PROT:Q92785	DPF2	C	356	S	C356S	Likely pathogenic	1	1	22	2
MUT:DPF2:Glu326Lys	PROT:Q92785	DPF2	E	326	K	E326K	Likely pathogenic	1	1	22	32
MUT:DPF2:Val8Ala	PROT:Q92785	DPF2	V	8	A	V8A	Likely benign	0	1	22	51
MUT:DPYD:Arg235Gln	PROT:Q12882	DPYD	R	235	Q	R235Q	Likely pathogenic	1	2	41	19
MUT:DPYD:Asp974Val	PROT:Q12882	DPYD	D	974	V	D974V	Pathogenic	1	1	41	52
MUT:DPYD:Ile948Thr	PROT:Q12882	DPYD	I	948	T	I948T	Likely pathogenic	1	1	41	26
MUT:DPYD:Met1Ile	PROT:Q12882	DPYD	M	1	I	M1I	Likely pathogenic	1	1	41	30
MUT:DPYD:Met1Leu	PROT:Q12882	DPYD	M	1	L	M1L	Likely pathogenic	1	1	41	30
MUT:DPYD:Met426Ile	PROT:Q12882	DPYD	M	426	I	M426I	Likely benign	0	1	41	8
MUT:DPYD:Pro86Leu	PROT:Q12882	DPYD	P	86	L	P86L	Pathogenic/Likely pathogenic	1	1	41	3
MUT:DPYD:Ser201Arg	PROT:Q12882	DPYD	S	201	R	S201R	Likely pathogenic	1	1	41	20
MUT:DPYD:Ser492Leu	PROT:Q12882	DPYD	S	492	L	S492L	Pathogenic/Likely pathogenic	1	1	41	37
MUT:DPYD:Val482Ile	PROT:Q12882	DPYD	V	482	I	V482I	Likely benign	0	1	41	27
MUT:DPYD:Val507Ile	PROT:Q12882	DPYD	V	507	I	V507I	Likely benign	0	1	41	52
MUT:DPYD:Val902Ala	PROT:Q12882	DPYD	V	902	A	V902A	Likely benign	0	1	41	3
MUT:DRAM2:Gln77His	PROT:Q6UX65	DRAM2	Q	77	H	Q77H	Likely pathogenic	1	1	1	186
MUT:DRAM2:Gly105Val	PROT:Q6UX65	DRAM2	G	105	V	G105V	Likely pathogenic	1	1	1	158
MUT:DRAM2:His121Leu	PROT:Q6UX65	DRAM2	H	121	L	H121L	Pathogenic	1	2	1	142
MUT:DRAM2:Ser44Asn	PROT:Q6UX65	DRAM2	S	44	N	S44N	Pathogenic	1	2	1	219
MUT:DRAM2:Tyr27His	PROT:Q6UX65	DRAM2	Y	27	H	Y27H	Pathogenic	1	1	1	236
MUT:DRC1:Ala356Val	PROT:Q96MC2	DRC1	A	356	V	A356V	Benign	0	2	3	114
MUT:DRC1:Ala575Val	PROT:Q96MC2	DRC1	A	575	V	A575V	Likely benign	0	2	3	333
MUT:DRC1:Arg219Cys	PROT:Q96MC2	DRC1	R	219	C	R219C	Likely benign	0	2	3	3
MUT:DRC1:Arg343Pro	PROT:Q96MC2	DRC1	R	343	P	R343P	Likely pathogenic	1	1	3	101
MUT:DRC1:Arg554Gln	PROT:Q96MC2	DRC1	R	554	Q	R554Q	Likely benign	0	1	3	312
MUT:DRC1:Asp658Glu	PROT:Q96MC2	DRC1	D	658	E	D658E	Likely benign	0	1	3	416
MUT:DRC1:Gln33Arg	PROT:Q96MC2	DRC1	Q	33	R	Q33R	Likely benign	0	1	3	183
MUT:DRC1:Gln674Leu	PROT:Q96MC2	DRC1	Q	674	L	Q674L	Likely benign	0	2	3	432
MUT:DRC1:Gln716Pro	PROT:Q96MC2	DRC1	Q	716	P	Q716P	Benign	0	1	3	474
MUT:DRC1:Glu597Gly	PROT:Q96MC2	DRC1	E	597	G	E597G	Likely benign	0	1	3	355
MUT:DRC1:Glu611Lys	PROT:Q96MC2	DRC1	E	611	K	E611K	Likely benign	0	1	3	369
MUT:DRC1:Leu498Val	PROT:Q96MC2	DRC1	L	498	V	L498V	Benign/Likely benign	0	1	3	256
MUT:DRC1:Lys357Glu	PROT:Q96MC2	DRC1	K	357	E	K357E	Benign	0	2	3	115
MUT:DRC1:Met378Leu	PROT:Q96MC2	DRC1	M	378	L	M378L	Likely benign	0	1	3	136
MUT:DRC1:Ser533Phe	PROT:Q96MC2	DRC1	S	533	F	S533F	Likely benign	0	1	3	291
MUT:DRC1:Ser659Leu	PROT:Q96MC2	DRC1	S	659	L	S659L	Benign	0	1	3	417
MUT:DRC1:Ser702Ile	PROT:Q96MC2	DRC1	S	702	I	S702I	Benign	0	1	3	460
MUT:DRC1:Thr331Ile	PROT:Q96MC2	DRC1	T	331	I	T331I	Benign/Likely benign	0	2	3	89
MUT:DRC1:Thr666Ala	PROT:Q96MC2	DRC1	T	666	A	T666A	Likely benign	0	1	3	424
MUT:DRC1:Trp399Arg	PROT:Q96MC2	DRC1	W	399	R	W399R	Benign	0	2	3	157
MUT:DRC1:Tyr58His	PROT:Q96MC2	DRC1	Y	58	H	Y58H	Benign	0	1	3	158
MUT:DRC1:Val633Phe	PROT:Q96MC2	DRC1	V	633	F	V633F	Benign	0	1	3	391
MUT:DRC1:Val690Ala	PROT:Q96MC2	DRC1	V	690	A	V690A	Likely benign	0	1	3	448
MUT:DRC1:Val734Met	PROT:Q96MC2	DRC1	V	734	M	V734M	Benign	0	1	3	492
MUT:DRC2:Arg294Cys	PROT:Q8IXS2	DRC2	R	294	C	R294C	Benign	0	1	2	181
MUT:DRC2:Arg472His	PROT:Q8IXS2	DRC2	R	472	H	R472H	Benign	0	1	2	359
MUT:DRC2:Asp341Tyr	PROT:Q8IXS2	DRC2	D	341	Y	D341Y	Benign/Likely benign	0	1	2	228
MUT:DRC2:Gly442Ser	PROT:Q8IXS2	DRC2	G	442	S	G442S	Likely benign	0	1	2	329
MUT:DRC2:Gly477Ser	PROT:Q8IXS2	DRC2	G	477	S	G477S	Benign/Likely benign	0	1	2	364
MUT:DRC2:His133Arg	PROT:Q8IXS2	DRC2	H	133	R	H133R	Benign	0	1	2	20
MUT:DRC2:His169Asn	PROT:Q8IXS2	DRC2	H	169	N	H169N	Benign	0	1	2	56
MUT:DRC2:His78Leu	PROT:Q8IXS2	DRC2	H	78	L	H78L	Likely benign	0	1	2	23
MUT:DRC2:Ile339Thr	PROT:Q8IXS2	DRC2	I	339	T	I339T	Likely benign	0	2	2	226
MUT:DRC2:Tyr408Cys	PROT:Q8IXS2	DRC2	Y	408	C	Y408C	Benign	0	1	2	295
MUT:DRC2:Val68Ala	PROT:Q8IXS2	DRC2	V	68	A	V68A	Likely benign	0	2	2	33
MUT:DRD2:Ala410Thr	PROT:P14416	DRD2	A	410	T	A410T	Benign	0	1	9	56
MUT:DRD2:Lys327Glu	PROT:P14416	DRD2	K	327	E	K327E	Benign/Likely benign	0	1	9	6
MUT:DRD2:Ser311Cys	PROT:P14416	DRD2	S	311	C	S311C	Benign	0	1	9	10
MUT:DRD3:Ala38Thr	PROT:P35462	DRD3	A	38	T	A38T	Likely benign	0	1	10	104
MUT:DRD3:Cys231Ser	PROT:P35462	DRD3	C	231	S	C231S	Likely benign	0	2	10	2
MUT:DRD3:Gly9Ser	PROT:P35462	DRD3	G	9	S	G9S	Benign/Likely benign	0	4	10	133
MUT:DRD4:Ala335Gly	PROT:P21917	DRD4	A	335	G	A335G	Benign	0	1	1	90
MUT:DRD4:Ala78Thr	PROT:P21917	DRD4	A	78	T	A78T	Likely benign	0	1	1	167
MUT:DRD4:Ala84Thr	PROT:P21917	DRD4	A	84	T	A84T	Benign	0	1	1	161
MUT:DRD4:Arg412Leu	PROT:P21917	DRD4	R	412	L	R412L	Likely benign	0	1	1	167
MUT:DRD4:Gly11Arg	PROT:P21917	DRD4	G	11	R	G11R	Benign	0	1	1	234
MUT:DRD4:Gly339Asp	PROT:P21917	DRD4	G	339	D	G339D	Likely benign	0	1	1	94
MUT:DRD4:Val194Gly	PROT:P21917	DRD4	V	194	G	V194G	Benign	0	1	1	51
MUT:DRG1:Asn248Phe	PROT:Q9Y295	DRG1	N	248	F	N248F	Likely pathogenic	1	1	12	35
MUT:DROSHA:Ala557Ser	PROT:Q9NRR4	DROSHA	A	557	S	A557S	Likely benign	0	13	19	148
MUT:DROSHA:Arg252Gln	PROT:Q9NRR4	DROSHA	R	252	Q	R252Q	Benign	0	1	19	3
MUT:DROSHA:Asn176Ser	PROT:Q9NRR4	DROSHA	N	176	S	N176S	Likely benign	0	1	19	45
MUT:DROSHA:Gln261Arg	PROT:Q9NRR4	DROSHA	Q	261	R	Q261R	Likely benign	0	1	19	6
MUT:DROSHA:Leu996Phe	PROT:Q9NRR4	DROSHA	L	996	F	L996F	Pathogenic	1	1	19	165
MUT:DROSHA:Pro170Leu	PROT:Q9NRR4	DROSHA	P	170	L	P170L	Benign	0	1	19	51
MUT:DROSHA:Pro56Ser	PROT:Q9NRR4	DROSHA	P	56	S	P56S	Likely benign	0	1	19	165
MUT:DROSHA:Pro83Leu	PROT:Q9NRR4	DROSHA	P	83	L	P83L	Likely benign	0	1	19	138
MUT:DROSHA:Ser321Leu	PROT:Q9NRR4	DROSHA	S	321	L	S321L	Benign	0	1	19	19
MUT:DSC2:Arg5Gly	PROT:Q02487	DSC2	R	5	G	R5G	Likely benign	0	1	19	129
MUT:DSC2:Arg798Gln	PROT:Q02487	DSC2	R	798	Q	R798Q	Benign	0	4	19	7
MUT:DSC2:Asn11Ser	PROT:Q02487	DSC2	N	11	S	N11S	Benign	0	3	19	123
MUT:DSC2:Asp879Gly	PROT:Q02487	DSC2	D	879	G	D879G	Benign/Likely benign	0	4	19	6
MUT:DSC2:Gly12Arg	PROT:Q02487	DSC2	G	12	R	G12R	Benign/Likely benign	0	4	19	122
MUT:DSC2:His604Asn	PROT:Q02487	DSC2	H	604	N	H604N	Likely benign	0	1	19	147
MUT:DSC2:His849Pro	PROT:Q02487	DSC2	H	849	P	H849P	Likely benign	0	2	19	4
MUT:DSC2:Ile169Val	PROT:Q02487	DSC2	I	169	V	I169V	Likely benign	0	1	19	35
MUT:DSC2:Ile776Val	PROT:Q02487	DSC2	I	776	V	I776V	Benign	0	3	19	7
MUT:DSC2:Ile85Val	PROT:Q02487	DSC2	I	85	V	I85V	Likely benign	0	1	19	49
MUT:DSC2:Phe250Ser	PROT:Q02487	DSC2	F	250	S	F250S	Likely pathogenic	1	1	19	28
MUT:DSC2:Phe58Leu	PROT:Q02487	DSC2	F	58	L	F58L	Likely benign	0	1	19	76
MUT:DSC2:Pro587Thr	PROT:Q02487	DSC2	P	587	T	P587T	Likely benign	0	1	19	164
MUT:DSC2:Thr222Ala	PROT:Q02487	DSC2	T	222	A	T222A	Likely benign	0	1	19	56
MUT:DSC2:Thr358Ile	PROT:Q02487	DSC2	T	358	I	T358I	Benign/Likely benign	0	5	19	80
MUT:DSC2:Val597Phe	PROT:Q02487	DSC2	V	597	F	V597F	Benign/Likely benign	0	3	19	154
MUT:DSC2:Val661Ile	PROT:Q02487	DSC2	V	661	I	V661I	Likely benign	0	3	19	90
MUT:DSC3:Arg199Trp	PROT:Q14574	DSC3	R	199	W	R199W	Benign	0	1	9	19
MUT:DSC3:Pro740Ser	PROT:Q14574	DSC3	P	740	S	P740S	Likely benign	0	1	9	48
MUT:DSG1:Ala581Thr	PROT:Q02413	DSG1	A	581	T	A581T	Likely benign	0	1	5	2
MUT:DSG1:Arg712Cys	PROT:Q02413	DSG1	R	712	C	R712C	Benign/Likely benign	0	1	5	40
MUT:DSG1:Asp772Asn	PROT:Q02413	DSG1	D	772	N	D772N	Benign	0	1	5	100
MUT:DSG1:Gly1008Glu	PROT:Q02413	DSG1	G	1008	E	G1008E	Benign	0	1	5	336
MUT:DSG1:Gly687Arg	PROT:Q02413	DSG1	G	687	R	G687R	Benign/Likely benign	0	1	5	15
MUT:DSG1:Gly972Ser	PROT:Q02413	DSG1	G	972	S	G972S	Benign	0	1	5	300
MUT:DSG1:Ile14Phe	PROT:Q02413	DSG1	I	14	F	I14F	Benign/Likely benign	0	1	5	206
MUT:DSG1:Ile276Val	PROT:Q02413	DSG1	I	276	V	I276V	Likely benign	0	1	5	56
MUT:DSG1:Leu287Phe	PROT:Q02413	DSG1	L	287	F	L287F	Likely benign	0	1	5	67
MUT:DSG1:Leu821Gln	PROT:Q02413	DSG1	L	821	Q	L821Q	Benign	0	1	5	149
MUT:DSG1:Met11Val	PROT:Q02413	DSG1	M	11	V	M11V	Benign	0	2	5	209
MUT:DSG1:Met665Ile	PROT:Q02413	DSG1	M	665	I	M665I	Benign	0	1	5	7
MUT:DSG1:Thr395Ser	PROT:Q02413	DSG1	T	395	S	T395S	Benign	0	1	5	42
MUT:DSG1:Tyr841Phe	PROT:Q02413	DSG1	Y	841	F	Y841F	Benign	0	2	5	169
MUT:DSPP:Ala15Val	PROT:Q9NZW4	DSPP	A	15	V	A15V	Pathogenic	1	1	2	57
MUT:DSPP:Arg358Gly	PROT:Q9NZW4	DSPP	R	358	G	R358G	Likely benign	0	1	2	99
MUT:DSPP:Arg488Gln	PROT:Q9NZW4	DSPP	R	488	Q	R488Q	Likely benign	0	1	2	229
MUT:DSPP:Arg68Trp	PROT:Q9NZW4	DSPP	R	68	W	R68W	Benign/Likely benign	0	3	2	4
MUT:DSPP:Asn1017Asp	PROT:Q9NZW4	DSPP	N	1017	D	N1017D	Likely benign	0	1	2	758
MUT:DSPP:Asn209Asp	PROT:Q9NZW4	DSPP	N	209	D	N209D	Likely benign	0	1	2	50
MUT:DSPP:Asp1113Glu	PROT:Q9NZW4	DSPP	D	1113	E	D1113E	Likely benign	0	1	2	854
MUT:DSPP:Asp1209Asn	PROT:Q9NZW4	DSPP	D	1209	N	D1209N	Likely benign	0	1	2	950
MUT:DSPP:Asp1227Glu	PROT:Q9NZW4	DSPP	D	1227	E	D1227E	Benign	0	1	2	968
MUT:DSPP:Pro17Thr	PROT:Q9NZW4	DSPP	P	17	T	P17T	Pathogenic	1	1	2	55
MUT:DSPP:Ser301Arg	PROT:Q9NZW4	DSPP	S	301	R	S301R	Likely benign	0	1	2	42
MUT:DSPP:Ser481Gly	PROT:Q9NZW4	DSPP	S	481	G	S481G	Likely benign	0	1	2	222
MUT:DSPP:Ser611Asn	PROT:Q9NZW4	DSPP	S	611	N	S611N	Likely benign	0	1	2	352
MUT:DSPP:Thr521Ala	PROT:Q9NZW4	DSPP	T	521	A	T521A	Likely benign	0	1	2	262
MUT:DSPP:Val18Asp	PROT:Q9NZW4	DSPP	V	18	D	V18D	Likely pathogenic	1	1	2	54
MUT:DSPP:Val18Phe	PROT:Q9NZW4	DSPP	V	18	F	V18F	Pathogenic	1	4	2	54
MUT:DSPP:Val392Ala	PROT:Q9NZW4	DSPP	V	392	A	V392A	Likely benign	0	1	2	133
MUT:DTNBP1:Arg221Gln	PROT:Q96EV8	DTNBP1	R	221	Q	R221Q	Likely benign	0	1	8	30
MUT:DUOX2:Ala1066Val	PROT:Q9NRD8	DUOX2	A	1066	V	A1066V	Likely benign	0	1	3	316
MUT:DUOX2:Ala1131Ser	PROT:Q9NRD8	DUOX2	A	1131	S	A1131S	Likely pathogenic	1	1	3	381
MUT:DUOX2:Ala1206Thr	PROT:Q9NRD8	DUOX2	A	1206	T	A1206T	Pathogenic	1	1	3	456
MUT:DUOX2:Ala649Glu	PROT:Q9NRD8	DUOX2	A	649	E	A649E	Likely pathogenic	1	2	3	101
MUT:DUOX2:Ala728Thr	PROT:Q9NRD8	DUOX2	A	728	T	A728T	Benign/Likely benign	0	3	3	22
MUT:DUOX2:Arg286His	PROT:Q9NRD8	DUOX2	R	286	H	R286H	Likely pathogenic	1	1	3	201
MUT:DUOX2:Arg701Gln	PROT:Q9NRD8	DUOX2	R	701	Q	R701Q	Benign/Likely benign	0	1	3	49
MUT:DUOX2:Arg885Gln	PROT:Q9NRD8	DUOX2	R	885	Q	R885Q	Pathogenic	1	1	3	135
MUT:DUOX2:Asn476Lys	PROT:Q9NRD8	DUOX2	N	476	K	N476K	Likely benign	0	1	3	274
MUT:DUOX2:Asp435Gly	PROT:Q9NRD8	DUOX2	D	435	G	D435G	Likely pathogenic	1	1	3	315
MUT:DUOX2:Glu1017Gly	PROT:Q9NRD8	DUOX2	E	1017	G	E1017G	Benign/Likely benign	0	1	3	267
MUT:DUOX2:Glu879Lys	PROT:Q9NRD8	DUOX2	E	879	K	E879K	Pathogenic/Likely pathogenic	1	1	3	129
MUT:DUOX2:Glu902Lys	PROT:Q9NRD8	DUOX2	E	902	K	E902K	Likely benign	0	1	3	152
MUT:DUOX2:Gly1518Ser	PROT:Q9NRD8	DUOX2	G	1518	S	G1518S	Pathogenic/Likely pathogenic	1	2	3	768
MUT:DUOX2:Gly437Ala	PROT:Q9NRD8	DUOX2	G	437	A	G437A	Pathogenic/Likely pathogenic	1	1	3	313
MUT:DUOX2:Gly488Arg	PROT:Q9NRD8	DUOX2	G	488	R	G488R	Pathogenic/Likely pathogenic	1	4	3	262
MUT:DUOX2:His678Arg	PROT:Q9NRD8	DUOX2	H	678	R	H678R	Benign/Likely benign	0	1	3	72
MUT:DUOX2:Lys656Arg	PROT:Q9NRD8	DUOX2	K	656	R	K656R	Likely benign	0	1	3	94
MUT:DUOX2:Met1019Thr	PROT:Q9NRD8	DUOX2	M	1019	T	M1019T	Likely benign	0	1	3	269
MUT:DUOX2:Met1019Val	PROT:Q9NRD8	DUOX2	M	1019	V	M1019V	Benign/Likely benign	0	1	3	269
MUT:DUOX2:Phe448Leu	PROT:Q9NRD8	DUOX2	F	448	L	F448L	Likely benign	0	1	3	302
MUT:DUOX2:Pro122Thr	PROT:Q9NRD8	DUOX2	P	122	T	P122T	Likely pathogenic	1	1	3	37
MUT:DUOX2:Pro138Leu	PROT:Q9NRD8	DUOX2	P	138	L	P138L	Benign	0	1	3	53
MUT:DUOX2:Pro234Ser	PROT:Q9NRD8	DUOX2	P	234	S	P234S	Likely benign	0	1	3	149
MUT:DUOX2:Pro596Ser	PROT:Q9NRD8	DUOX2	P	596	S	P596S	Benign/Likely benign	0	1	3	154
MUT:DUOX2:Pro982Ala	PROT:Q9NRD8	DUOX2	P	982	A	P982A	Benign/Likely benign	0	1	3	232
MUT:DUOX2:Ser1067Leu	PROT:Q9NRD8	DUOX2	S	1067	L	S1067L	Benign	0	1	3	317
MUT:DUOX2:Ser25Arg	PROT:Q9NRD8	DUOX2	S	25	R	S25R	Likely pathogenic	1	1	3	45
MUT:DUOX2:Trp178Cys	PROT:Q9NRD8	DUOX2	W	178	C	W178C	Likely pathogenic	1	1	3	93
MUT:DUOX2:Tyr1286His	PROT:Q9NRD8	DUOX2	Y	1286	H	Y1286H	Benign/Likely benign	0	1	3	536
MUT:DUOX2:Val330Gly	PROT:Q9NRD8	DUOX2	V	330	G	V330G	Likely pathogenic	1	1	3	245
MUT:DUOX2:Val407Phe	PROT:Q9NRD8	DUOX2	V	407	F	V407F	Likely pathogenic	1	1	3	322
MUT:DUSP22:Leu159Phe	PROT:Q9NRW4	DUSP22	L	159	F	L159F	Likely benign	0	1	6	7
MUT:DUSP22:Pro195Leu	PROT:Q9NRW4	DUSP22	P	195	L	P195L	Likely benign	0	1	6	29
MUT:DUSP22:Val106Ile	PROT:Q9NRW4	DUSP22	V	106	I	V106I	Likely benign	0	1	6	45
MUT:DUSP22:Val143Ile	PROT:Q9NRW4	DUSP22	V	143	I	V143I	Likely benign	0	1	6	8
MUT:DVL1:Ala157Thr	PROT:O14640	DVL1	A	157	T	A157T	Benign	0	1	5	37
MUT:DVL1:Ala178Thr	PROT:O14640	DVL1	A	178	T	A178T	Likely benign	0	1	5	16
MUT:DVL1:Ala231Val	PROT:O14640	DVL1	A	231	V	A231V	Likely benign	0	1	5	37
MUT:DVL1:Ala91Val	PROT:O14640	DVL1	A	91	V	A91V	Benign/Likely benign	0	2	5	103
MUT:DVL1:Arg153Cys	PROT:O14640	DVL1	R	153	C	R153C	Benign	0	1	5	41
MUT:DVL1:Arg229Gly	PROT:O14640	DVL1	R	229	G	R229G	Benign	0	1	5	35
MUT:DVL1:Arg388Pro	PROT:O14640	DVL1	R	388	P	R388P	Likely benign	0	1	5	3
MUT:DVL1:Arg588Cys	PROT:O14640	DVL1	R	588	C	R588C	Benign/Likely benign	0	1	5	38
MUT:DVL1:Cys501Ser	PROT:O14640	DVL1	C	501	S	C501S	Likely benign	0	1	5	57
MUT:DVL1:Gly277Asp	PROT:O14640	DVL1	G	277	D	G277D	Likely benign	0	1	5	8
MUT:DVL1:Gly378Asp	PROT:O14640	DVL1	G	378	D	G378D	Likely benign	0	1	5	13
MUT:DVL1:Pro104Ser	PROT:O14640	DVL1	P	104	S	P104S	Likely benign	0	1	5	90
MUT:DVL1:Pro586Arg	PROT:O14640	DVL1	P	586	R	P586R	Benign/Likely benign	0	1	5	40
MUT:DVL1:Pro642Ser	PROT:O14640	DVL1	P	642	S	P642S	Benign	0	1	5	16
MUT:DVL1:Ser98Gly	PROT:O14640	DVL1	S	98	G	S98G	Likely benign	0	1	5	96
MUT:DVL1:Thr379Met	PROT:O14640	DVL1	T	379	M	T379M	Likely benign	0	1	5	12
MUT:DVL1:Thr456Ala	PROT:O14640	DVL1	T	456	A	T456A	Likely benign	0	1	5	12
MUT:DVL3:Ala620Val	PROT:Q92997	DVL3	A	620	V	A620V	Benign	0	1	35	42
MUT:DVL3:Ser199Asn	PROT:Q92997	DVL3	S	199	N	S199N	Likely benign	0	1	35	2
MUT:DYM:Asn469Tyr	PROT:Q7RTS9	DYM	N	469	Y	N469Y	Pathogenic	1	1	4	11
MUT:DYM:Cys597Arg	PROT:Q7RTS9	DYM	C	597	R	C597R	Pathogenic	1	1	4	11
MUT:DYM:Glu87Lys	PROT:Q7RTS9	DYM	E	87	K	E87K	Pathogenic	1	2	4	371
MUT:DYM:Ile167Asn	PROT:Q7RTS9	DYM	I	167	N	I167N	Benign	0	1	4	291
MUT:DYM:Leu36Arg	PROT:Q7RTS9	DYM	L	36	R	L36R	Likely pathogenic	1	1	4	422
MUT:DYM:Ser141Gly	PROT:Q7RTS9	DYM	S	141	G	S141G	Benign/Likely benign	0	1	4	317
MUT:DYNC1H1:Ala1249Thr	PROT:Q14204	DYNC1H1	A	1249	T	A1249T	Likely benign	0	1	172	7
MUT:DYNC1H1:Ala1365Ser	PROT:Q14204	DYNC1H1	A	1365	S	A1365S	Likely benign	0	1	172	6
MUT:DYNC1H1:Ala1444Val	PROT:Q14204	DYNC1H1	A	1444	V	A1444V	Benign/Likely benign	0	2	172	30
MUT:DYNC1H1:Ala1648Thr	PROT:Q14204	DYNC1H1	A	1648	T	A1648T	Likely benign	0	1	172	1
MUT:DYNC1H1:Ala1765Val	PROT:Q14204	DYNC1H1	A	1765	V	A1765V	Benign/Likely benign	0	2	172	27
MUT:DYNC1H1:Ala1776Thr	PROT:Q14204	DYNC1H1	A	1776	T	A1776T	Likely benign	0	1	172	31
MUT:DYNC1H1:Ala1776Val	PROT:Q14204	DYNC1H1	A	1776	V	A1776V	Likely benign	0	1	172	31
MUT:DYNC1H1:Ala1833Thr	PROT:Q14204	DYNC1H1	A	1833	T	A1833T	Likely benign	0	1	172	1
MUT:DYNC1H1:Ala2050Pro	PROT:Q14204	DYNC1H1	A	2050	P	A2050P	Likely pathogenic	1	3	172	5
MUT:DYNC1H1:Ala2351Glu	PROT:Q14204	DYNC1H1	A	2351	E	A2351E	Likely pathogenic	1	1	172	33
MUT:DYNC1H1:Ala2419Val	PROT:Q14204	DYNC1H1	A	2419	V	A2419V	Likely benign	0	1	172	9
MUT:DYNC1H1:Ala2470Gly	PROT:Q14204	DYNC1H1	A	2470	G	A2470G	Likely benign	0	1	172	33
MUT:DYNC1H1:Ala3315Gly	PROT:Q14204	DYNC1H1	A	3315	G	A3315G	Likely benign	0	1	172	6
MUT:DYNC1H1:Ala3320Val	PROT:Q14204	DYNC1H1	A	3320	V	A3320V	Likely pathogenic	1	2	172	11
MUT:DYNC1H1:Ala3362Ser	PROT:Q14204	DYNC1H1	A	3362	S	A3362S	Likely benign	0	1	172	7
MUT:DYNC1H1:Ala3867Val	PROT:Q14204	DYNC1H1	A	3867	V	A3867V	Likely benign	0	1	172	26
MUT:DYNC1H1:Ala3934Ser	PROT:Q14204	DYNC1H1	A	3934	S	A3934S	Likely benign	0	1	172	11
MUT:DYNC1H1:Ala3934Val	PROT:Q14204	DYNC1H1	A	3934	V	A3934V	Likely benign	0	1	172	11
MUT:DYNC1H1:Ala3943Glu	PROT:Q14204	DYNC1H1	A	3943	E	A3943E	Likely benign	0	1	172	2
MUT:DYNC1H1:Ala3943Thr	PROT:Q14204	DYNC1H1	A	3943	T	A3943T	Likely benign	0	1	172	2
MUT:DYNC1H1:Ala4003Val	PROT:Q14204	DYNC1H1	A	4003	V	A4003V	Likely benign	0	1	172	58
MUT:DYNC1H1:Ala4384Thr	PROT:Q14204	DYNC1H1	A	4384	T	A4384T	Likely benign	0	1	172	14
MUT:DYNC1H1:Ala4421Ser	PROT:Q14204	DYNC1H1	A	4421	S	A4421S	Likely benign	0	1	172	20
MUT:DYNC1H1:Ala4501Val	PROT:Q14204	DYNC1H1	A	4501	V	A4501V	Likely benign	0	1	172	1
MUT:DYNC1H1:Ala4519Val	PROT:Q14204	DYNC1H1	A	4519	V	A4519V	Likely pathogenic	1	1	172	17
MUT:DYNC1H1:Ala4584Ser	PROT:Q14204	DYNC1H1	A	4584	S	A4584S	Likely benign	0	1	172	10
MUT:DYNC1H1:Ala48Thr	PROT:Q14204	DYNC1H1	A	48	T	A48T	Likely benign	0	1	172	11
MUT:DYNC1H1:Ala54Glu	PROT:Q14204	DYNC1H1	A	54	E	A54E	Likely benign	0	1	172	5
MUT:DYNC1H1:Ala55Val	PROT:Q14204	DYNC1H1	A	55	V	A55V	Likely benign	0	1	172	4
MUT:DYNC1H1:Ala566Thr	PROT:Q14204	DYNC1H1	A	566	T	A566T	Likely benign	0	1	172	8
MUT:DYNC1H1:Ala817Thr	PROT:Q14204	DYNC1H1	A	817	T	A817T	Likely benign	0	1	172	8
MUT:DYNC1H1:Ala884Ser	PROT:Q14204	DYNC1H1	A	884	S	A884S	Likely benign	0	1	172	1
MUT:DYNC1H1:Ala934Thr	PROT:Q14204	DYNC1H1	A	934	T	A934T	Likely benign	0	1	172	22
MUT:DYNC1H1:Arg1025Gln	PROT:Q14204	DYNC1H1	R	1025	Q	R1025Q	Likely benign	0	1	172	30
MUT:DYNC1H1:Arg1090Gly	PROT:Q14204	DYNC1H1	R	1090	G	R1090G	Likely pathogenic	1	1	172	10
MUT:DYNC1H1:Arg1090Lys	PROT:Q14204	DYNC1H1	R	1090	K	R1090K	Pathogenic	1	1	172	10
MUT:DYNC1H1:Arg1201Ser	PROT:Q14204	DYNC1H1	R	1201	S	R1201S	Likely pathogenic	1	1	172	16
MUT:DYNC1H1:Arg1567Gln	PROT:Q14204	DYNC1H1	R	1567	Q	R1567Q	Pathogenic/Likely pathogenic	1	3	172	17
MUT:DYNC1H1:Arg1567Leu	PROT:Q14204	DYNC1H1	R	1567	L	R1567L	Likely pathogenic	1	1	172	17
MUT:DYNC1H1:Arg1567Trp	PROT:Q14204	DYNC1H1	R	1567	W	R1567W	Likely pathogenic	1	2	172	17
MUT:DYNC1H1:Arg1623Gln	PROT:Q14204	DYNC1H1	R	1623	Q	R1623Q	Pathogenic/Likely pathogenic	1	5	172	1
MUT:DYNC1H1:Arg1623Trp	PROT:Q14204	DYNC1H1	R	1623	W	R1623W	Pathogenic	1	1	172	1
MUT:DYNC1H1:Arg1679Trp	PROT:Q14204	DYNC1H1	R	1679	W	R1679W	Pathogenic	1	1	172	18
MUT:DYNC1H1:Arg1962Cys	PROT:Q14204	DYNC1H1	R	1962	C	R1962C	Pathogenic	1	2	172	30
MUT:DYNC1H1:Arg1962His	PROT:Q14204	DYNC1H1	R	1962	H	R1962H	Likely pathogenic	1	1	172	30
MUT:DYNC1H1:Arg1983Cys	PROT:Q14204	DYNC1H1	R	1983	C	R1983C	Likely benign	0	1	172	9
MUT:DYNC1H1:Arg1983His	PROT:Q14204	DYNC1H1	R	1983	H	R1983H	Likely benign	0	1	172	9
MUT:DYNC1H1:Arg2025Gln	PROT:Q14204	DYNC1H1	R	2025	Q	R2025Q	Pathogenic	1	1	172	17
MUT:DYNC1H1:Arg223His	PROT:Q14204	DYNC1H1	R	223	H	R223H	Likely benign	0	1	172	12
MUT:DYNC1H1:Arg2332Cys	PROT:Q14204	DYNC1H1	R	2332	C	R2332C	Pathogenic/Likely pathogenic	1	2	172	51
MUT:DYNC1H1:Arg2332His	PROT:Q14204	DYNC1H1	R	2332	H	R2332H	Likely pathogenic	1	1	172	51
MUT:DYNC1H1:Arg2332Leu	PROT:Q14204	DYNC1H1	R	2332	L	R2332L	Likely pathogenic	1	1	172	51
MUT:DYNC1H1:Arg2383Cys	PROT:Q14204	DYNC1H1	R	2383	C	R2383C	Likely benign	0	1	172	1
MUT:DYNC1H1:Arg2451Cys	PROT:Q14204	DYNC1H1	R	2451	C	R2451C	Likely benign	0	1	172	22
MUT:DYNC1H1:Arg2488Cys	PROT:Q14204	DYNC1H1	R	2488	C	R2488C	Benign	0	1	172	15
MUT:DYNC1H1:Arg2488His	PROT:Q14204	DYNC1H1	R	2488	H	R2488H	Benign/Likely benign	0	2	172	15
MUT:DYNC1H1:Arg251Ser	PROT:Q14204	DYNC1H1	R	251	S	R251S	Pathogenic/Likely pathogenic	1	1	172	11
MUT:DYNC1H1:Arg264Leu	PROT:Q14204	DYNC1H1	R	264	L	R264L	Pathogenic	1	2	172	24
MUT:DYNC1H1:Arg264Pro	PROT:Q14204	DYNC1H1	R	264	P	R264P	Likely pathogenic	1	1	172	24
MUT:DYNC1H1:Arg2763Gln	PROT:Q14204	DYNC1H1	R	2763	Q	R2763Q	Likely benign	0	1	172	2
MUT:DYNC1H1:Arg2844Cys	PROT:Q14204	DYNC1H1	R	2844	C	R2844C	Likely benign	0	1	172	12
MUT:DYNC1H1:Arg292Trp	PROT:Q14204	DYNC1H1	R	292	W	R292W	Pathogenic	1	2	172	26
MUT:DYNC1H1:Arg2977Gln	PROT:Q14204	DYNC1H1	R	2977	Q	R2977Q	Likely benign	0	1	172	20
MUT:DYNC1H1:Arg309Cys	PROT:Q14204	DYNC1H1	R	309	C	R309C	Likely pathogenic	1	2	172	9
MUT:DYNC1H1:Arg309His	PROT:Q14204	DYNC1H1	R	309	H	R309H	Pathogenic/Likely pathogenic	1	3	172	9
MUT:DYNC1H1:Arg3339His	PROT:Q14204	DYNC1H1	R	3339	H	R3339H	Pathogenic/Likely pathogenic	1	2	172	30
MUT:DYNC1H1:Arg3344Gln	PROT:Q14204	DYNC1H1	R	3344	Q	R3344Q	Pathogenic	1	4	172	25
MUT:DYNC1H1:Arg3344Trp	PROT:Q14204	DYNC1H1	R	3344	W	R3344W	Pathogenic	1	3	172	25
MUT:DYNC1H1:Arg3384Gln	PROT:Q14204	DYNC1H1	R	3384	Q	R3384Q	Pathogenic	1	2	172	2
MUT:DYNC1H1:Arg3438Gln	PROT:Q14204	DYNC1H1	R	3438	Q	R3438Q	Likely benign	0	2	172	5
MUT:DYNC1H1:Arg3474Trp	PROT:Q14204	DYNC1H1	R	3474	W	R3474W	Pathogenic/Likely pathogenic	1	4	172	3
MUT:DYNC1H1:Arg3525Cys	PROT:Q14204	DYNC1H1	R	3525	C	R3525C	Pathogenic	1	1	172	27
MUT:DYNC1H1:Arg3525His	PROT:Q14204	DYNC1H1	R	3525	H	R3525H	Pathogenic/Likely pathogenic	1	3	172	27
MUT:DYNC1H1:Arg3651His	PROT:Q14204	DYNC1H1	R	3651	H	R3651H	Likely benign	0	1	172	11
MUT:DYNC1H1:Arg3695Trp	PROT:Q14204	DYNC1H1	R	3695	W	R3695W	Likely pathogenic	1	1	172	53
MUT:DYNC1H1:Arg3728Pro	PROT:Q14204	DYNC1H1	R	3728	P	R3728P	Likely pathogenic	1	2	172	20
MUT:DYNC1H1:Arg3989Cys	PROT:Q14204	DYNC1H1	R	3989	C	R3989C	Likely benign	0	1	172	44
MUT:DYNC1H1:Arg399Gly	PROT:Q14204	DYNC1H1	R	399	G	R399G	Likely pathogenic	1	3	172	1
MUT:DYNC1H1:Arg4143Cys	PROT:Q14204	DYNC1H1	R	4143	C	R4143C	Likely benign	0	1	172	11
MUT:DYNC1H1:Arg4168Gln	PROT:Q14204	DYNC1H1	R	4168	Q	R4168Q	Likely benign	0	2	172	6
MUT:DYNC1H1:Arg4195Gln	PROT:Q14204	DYNC1H1	R	4195	Q	R4195Q	Benign/Likely benign	0	1	172	9
MUT:DYNC1H1:Arg4271Cys	PROT:Q14204	DYNC1H1	R	4271	C	R4271C	Likely benign	0	1	172	12
MUT:DYNC1H1:Arg4373His	PROT:Q14204	DYNC1H1	R	4373	H	R4373H	Benign/Likely benign	0	1	172	3
MUT:DYNC1H1:Arg4428Gly	PROT:Q14204	DYNC1H1	R	4428	G	R4428G	Likely benign	0	1	172	13
MUT:DYNC1H1:Arg4428His	PROT:Q14204	DYNC1H1	R	4428	H	R4428H	Likely benign	0	1	172	13
MUT:DYNC1H1:Arg4591His	PROT:Q14204	DYNC1H1	R	4591	H	R4591H	Likely benign	0	1	172	3
MUT:DYNC1H1:Arg462Pro	PROT:Q14204	DYNC1H1	R	462	P	R462P	Likely pathogenic	1	1	172	56
MUT:DYNC1H1:Arg4633His	PROT:Q14204	DYNC1H1	R	4633	H	R4633H	Likely benign	0	1	172	19
MUT:DYNC1H1:Arg569Pro	PROT:Q14204	DYNC1H1	R	569	P	R569P	Pathogenic/Likely pathogenic	1	2	172	5
MUT:DYNC1H1:Arg569Trp	PROT:Q14204	DYNC1H1	R	569	W	R569W	Pathogenic	1	1	172	5
MUT:DYNC1H1:Arg598Cys	PROT:Q14204	DYNC1H1	R	598	C	R598C	Pathogenic/Likely pathogenic	1	3	172	15
MUT:DYNC1H1:Arg598Leu	PROT:Q14204	DYNC1H1	R	598	L	R598L	Pathogenic	1	3	172	15
MUT:DYNC1H1:Arg598Pro	PROT:Q14204	DYNC1H1	R	598	P	R598P	Likely pathogenic	1	1	172	15
MUT:DYNC1H1:Arg726Gln	PROT:Q14204	DYNC1H1	R	726	Q	R726Q	Likely benign	0	1	172	10
MUT:DYNC1H1:Arg786Cys	PROT:Q14204	DYNC1H1	R	786	C	R786C	Likely pathogenic	1	1	172	23
MUT:DYNC1H1:Asn1077Ser	PROT:Q14204	DYNC1H1	N	1077	S	N1077S	Likely benign	0	1	172	1
MUT:DYNC1H1:Asn114Ser	PROT:Q14204	DYNC1H1	N	114	S	N114S	Likely benign	0	1	172	6
MUT:DYNC1H1:Asn1192Ser	PROT:Q14204	DYNC1H1	N	1192	S	N1192S	Likely benign	0	1	172	7
MUT:DYNC1H1:Asn1670Ser	PROT:Q14204	DYNC1H1	N	1670	S	N1670S	Likely benign	0	1	172	21
MUT:DYNC1H1:Asn1790Ser	PROT:Q14204	DYNC1H1	N	1790	S	N1790S	Likely benign	0	1	172	17
MUT:DYNC1H1:Asn1832Ser	PROT:Q14204	DYNC1H1	N	1832	S	N1832S	Likely benign	0	1	172	2
MUT:DYNC1H1:Asn1987Ser	PROT:Q14204	DYNC1H1	N	1987	S	N1987S	Likely benign	0	2	172	5
MUT:DYNC1H1:Asn199Thr	PROT:Q14204	DYNC1H1	N	199	T	N199T	Likely pathogenic	1	1	172	36
MUT:DYNC1H1:Asn2475Ser	PROT:Q14204	DYNC1H1	N	2475	S	N2475S	Likely benign	0	1	172	28
MUT:DYNC1H1:Asn2531Ser	PROT:Q14204	DYNC1H1	N	2531	S	N2531S	Likely benign	0	1	172	14
MUT:DYNC1H1:Asn3431Asp	PROT:Q14204	DYNC1H1	N	3431	D	N3431D	Likely benign	0	1	172	2
MUT:DYNC1H1:Asn3584Asp	PROT:Q14204	DYNC1H1	N	3584	D	N3584D	Benign	0	1	172	3
MUT:DYNC1H1:Asn4038Ser	PROT:Q14204	DYNC1H1	N	4038	S	N4038S	Likely benign	0	1	172	51
MUT:DYNC1H1:Asn4453Lys	PROT:Q14204	DYNC1H1	N	4453	K	N4453K	Likely benign	0	1	172	4
MUT:DYNC1H1:Asn4573Ser	PROT:Q14204	DYNC1H1	N	4573	S	N4573S	Benign/Likely benign	0	1	172	21
MUT:DYNC1H1:Asp1062Ala	PROT:Q14204	DYNC1H1	D	1062	A	D1062A	Pathogenic	1	1	172	16
MUT:DYNC1H1:Asp1062Gly	PROT:Q14204	DYNC1H1	D	1062	G	D1062G	Likely pathogenic	1	1	172	16
MUT:DYNC1H1:Asp1094Gly	PROT:Q14204	DYNC1H1	D	1094	G	D1094G	Likely pathogenic	1	1	172	6
MUT:DYNC1H1:Asp1991Gly	PROT:Q14204	DYNC1H1	D	1991	G	D1991G	Likely benign	0	1	172	1
MUT:DYNC1H1:Asp2195Asn	PROT:Q14204	DYNC1H1	D	2195	N	D2195N	Likely benign	0	1	172	44
MUT:DYNC1H1:Asp2403Asn	PROT:Q14204	DYNC1H1	D	2403	N	D2403N	Likely benign	0	1	172	2
MUT:DYNC1H1:Asp2851Asn	PROT:Q14204	DYNC1H1	D	2851	N	D2851N	Benign/Likely benign	0	1	172	5
MUT:DYNC1H1:Asp2862Asn	PROT:Q14204	DYNC1H1	D	2862	N	D2862N	Benign/Likely benign	0	1	172	3
MUT:DYNC1H1:Asp3077His	PROT:Q14204	DYNC1H1	D	3077	H	D3077H	Likely benign	0	1	172	1
MUT:DYNC1H1:Asp3361Glu	PROT:Q14204	DYNC1H1	D	3361	E	D3361E	Likely benign	0	1	172	8
MUT:DYNC1H1:Asp338Gly	PROT:Q14204	DYNC1H1	D	338	G	D338G	Pathogenic/Likely pathogenic	1	1	172	8
MUT:DYNC1H1:Asp3546Gly	PROT:Q14204	DYNC1H1	D	3546	G	D3546G	Likely benign	0	1	172	6
MUT:DYNC1H1:Asp4289Asn	PROT:Q14204	DYNC1H1	D	4289	N	D4289N	Likely benign	0	2	172	2
MUT:DYNC1H1:Asp464Asn	PROT:Q14204	DYNC1H1	D	464	N	D464N	Likely benign	0	1	172	58
MUT:DYNC1H1:Asp554Asn	PROT:Q14204	DYNC1H1	D	554	N	D554N	Likely benign	0	1	172	3
MUT:DYNC1H1:Cys1999Tyr	PROT:Q14204	DYNC1H1	C	1999	Y	C1999Y	Likely benign	0	1	172	5
MUT:DYNC1H1:Cys4121Ser	PROT:Q14204	DYNC1H1	C	4121	S	C4121S	Likely benign	0	1	172	6
MUT:DYNC1H1:Cys4286Arg	PROT:Q14204	DYNC1H1	C	4286	R	C4286R	Likely benign	0	1	172	1
MUT:DYNC1H1:Cys4556Tyr	PROT:Q14204	DYNC1H1	C	4556	Y	C4556Y	Benign/Likely benign	0	1	172	38
MUT:DYNC1H1:Gln1058His	PROT:Q14204	DYNC1H1	Q	1058	H	Q1058H	Likely pathogenic	1	1	172	20
MUT:DYNC1H1:Gln1855Arg	PROT:Q14204	DYNC1H1	Q	1855	R	Q1855R	Likely benign	0	1	172	15
MUT:DYNC1H1:Gln2169Pro	PROT:Q14204	DYNC1H1	Q	2169	P	Q2169P	Likely benign	0	1	172	70
MUT:DYNC1H1:Gln22His	PROT:Q14204	DYNC1H1	Q	22	H	Q22H	Likely benign	0	1	172	9
MUT:DYNC1H1:Gln2395His	PROT:Q14204	DYNC1H1	Q	2395	H	Q2395H	Likely benign	0	1	172	6
MUT:DYNC1H1:Gln3427Pro	PROT:Q14204	DYNC1H1	Q	3427	P	Q3427P	Likely pathogenic	1	1	172	2
MUT:DYNC1H1:Gln3751Leu	PROT:Q14204	DYNC1H1	Q	3751	L	Q3751L	Likely benign	0	1	172	3
MUT:DYNC1H1:Gln3792Lys	PROT:Q14204	DYNC1H1	Q	3792	K	Q3792K	Likely benign	0	1	172	18
MUT:DYNC1H1:Gln3878His	PROT:Q14204	DYNC1H1	Q	3878	H	Q3878H	Likely benign	0	1	172	15
MUT:DYNC1H1:Gln4249Glu	PROT:Q14204	DYNC1H1	Q	4249	E	Q4249E	Likely benign	0	1	172	8
MUT:DYNC1H1:Gln4295Glu	PROT:Q14204	DYNC1H1	Q	4295	E	Q4295E	Likely benign	0	1	172	3
MUT:DYNC1H1:Gln4295Lys	PROT:Q14204	DYNC1H1	Q	4295	K	Q4295K	Likely benign	0	1	172	3
MUT:DYNC1H1:Gln4477His	PROT:Q14204	DYNC1H1	Q	4477	H	Q4477H	Likely benign	0	1	172	10
MUT:DYNC1H1:Gln629His	PROT:Q14204	DYNC1H1	Q	629	H	Q629H	Likely benign	0	1	172	5
MUT:DYNC1H1:Gln882Lys	PROT:Q14204	DYNC1H1	Q	882	K	Q882K	Likely pathogenic	1	2	172	1
MUT:DYNC1H1:Gln967Arg	PROT:Q14204	DYNC1H1	Q	967	R	Q967R	Likely pathogenic	1	2	172	3
MUT:DYNC1H1:Glu1016Gln	PROT:Q14204	DYNC1H1	E	1016	Q	E1016Q	Likely benign	0	1	172	21
MUT:DYNC1H1:Glu1048Lys	PROT:Q14204	DYNC1H1	E	1048	K	E1048K	Likely benign	0	1	172	30
MUT:DYNC1H1:Glu1188Gly	PROT:Q14204	DYNC1H1	E	1188	G	E1188G	Likely benign	0	1	172	3
MUT:DYNC1H1:Glu1348Lys	PROT:Q14204	DYNC1H1	E	1348	K	E1348K	Likely pathogenic	1	1	172	1
MUT:DYNC1H1:Glu1456Lys	PROT:Q14204	DYNC1H1	E	1456	K	E1456K	Likely pathogenic	1	1	172	42
MUT:DYNC1H1:Glu201Asp	PROT:Q14204	DYNC1H1	E	201	D	E201D	Likely benign	0	1	172	34
MUT:DYNC1H1:Glu2404Asp	PROT:Q14204	DYNC1H1	E	2404	D	E2404D	Likely benign	0	1	172	3
MUT:DYNC1H1:Glu2665Gly	PROT:Q14204	DYNC1H1	E	2665	G	E2665G	Likely pathogenic	1	1	172	37
MUT:DYNC1H1:Glu3251Lys	PROT:Q14204	DYNC1H1	E	3251	K	E3251K	Likely pathogenic	1	1	172	26
MUT:DYNC1H1:Glu3345Lys	PROT:Q14204	DYNC1H1	E	3345	K	E3345K	Pathogenic	1	1	172	24
MUT:DYNC1H1:Glu3598Lys	PROT:Q14204	DYNC1H1	E	3598	K	E3598K	Likely benign	0	1	172	7
MUT:DYNC1H1:Glu3771Lys	PROT:Q14204	DYNC1H1	E	3771	K	E3771K	Likely pathogenic	1	1	172	3
MUT:DYNC1H1:Glu3785Asp	PROT:Q14204	DYNC1H1	E	3785	D	E3785D	Likely pathogenic	1	1	172	11
MUT:DYNC1H1:Glu3795Asp	PROT:Q14204	DYNC1H1	E	3795	D	E3795D	Likely benign	0	1	172	21
MUT:DYNC1H1:Glu3904Gln	PROT:Q14204	DYNC1H1	E	3904	Q	E3904Q	Likely benign	0	1	172	11
MUT:DYNC1H1:Glu4439Lys	PROT:Q14204	DYNC1H1	E	4439	K	E4439K	Likely benign	0	1	172	2
MUT:DYNC1H1:Glu4599Lys	PROT:Q14204	DYNC1H1	E	4599	K	E4599K	Likely benign	0	2	172	4
MUT:DYNC1H1:Glu580Ala	PROT:Q14204	DYNC1H1	E	580	A	E580A	Pathogenic/Likely pathogenic	1	1	172	4
MUT:DYNC1H1:Glu580Lys	PROT:Q14204	DYNC1H1	E	580	K	E580K	Likely pathogenic	1	2	172	4
MUT:DYNC1H1:Glu603Val	PROT:Q14204	DYNC1H1	E	603	V	E603V	Likely pathogenic	1	3	172	10
MUT:DYNC1H1:Glu697Ala	PROT:Q14204	DYNC1H1	E	697	A	E697A	Likely benign	0	1	172	5
MUT:DYNC1H1:Glu80Gly	PROT:Q14204	DYNC1H1	E	80	G	E80G	Benign	0	1	172	5
MUT:DYNC1H1:Gly1132Glu	PROT:Q14204	DYNC1H1	G	1132	E	G1132E	Pathogenic	1	1	172	2
MUT:DYNC1H1:Gly1616Glu	PROT:Q14204	DYNC1H1	G	1616	E	G1616E	Likely pathogenic	1	1	172	2
MUT:DYNC1H1:Gly1771Arg	PROT:Q14204	DYNC1H1	G	1771	R	G1771R	Likely benign	0	2	172	33
MUT:DYNC1H1:Gly1772Asp	PROT:Q14204	DYNC1H1	G	1772	D	G1772D	Likely benign	0	1	172	34
MUT:DYNC1H1:Gly1772Ser	PROT:Q14204	DYNC1H1	G	1772	S	G1772S	Likely benign	0	1	172	34
MUT:DYNC1H1:Gly1773Arg	PROT:Q14204	DYNC1H1	G	1773	R	G1773R	Likely benign	0	1	172	34
MUT:DYNC1H1:Gly1902Val	PROT:Q14204	DYNC1H1	G	1902	V	G1902V	Pathogenic	1	1	172	1
MUT:DYNC1H1:Gly2330Glu	PROT:Q14204	DYNC1H1	G	2330	E	G2330E	Pathogenic/Likely pathogenic	1	1	172	49
MUT:DYNC1H1:Gly2543Arg	PROT:Q14204	DYNC1H1	G	2543	R	G2543R	Benign	0	1	172	18
MUT:DYNC1H1:Gly2598Val	PROT:Q14204	DYNC1H1	G	2598	V	G2598V	Likely pathogenic	1	1	172	37
MUT:DYNC1H1:Gly2647Glu	PROT:Q14204	DYNC1H1	G	2647	E	G2647E	Likely benign	0	1	172	55
MUT:DYNC1H1:Gly2749Ser	PROT:Q14204	DYNC1H1	G	2749	S	G2749S	Likely benign	0	1	172	12
MUT:DYNC1H1:Gly3019Ser	PROT:Q14204	DYNC1H1	G	3019	S	G3019S	Likely pathogenic	1	1	172	20
MUT:DYNC1H1:Gly3658Glu	PROT:Q14204	DYNC1H1	G	3658	E	G3658E	Likely pathogenic	1	1	172	18
MUT:DYNC1H1:Gly4072Cys	PROT:Q14204	DYNC1H1	G	4072	C	G4072C	Likely pathogenic	1	1	172	17
MUT:DYNC1H1:Gly4072Ser	PROT:Q14204	DYNC1H1	G	4072	S	G4072S	Likely pathogenic	1	1	172	17
MUT:DYNC1H1:Gly4559Arg	PROT:Q14204	DYNC1H1	G	4559	R	G4559R	Benign/Likely benign	0	2	172	35
MUT:DYNC1H1:Gly45Arg	PROT:Q14204	DYNC1H1	G	45	R	G45R	Likely benign	0	1	172	9
MUT:DYNC1H1:Gly712Ser	PROT:Q14204	DYNC1H1	G	712	S	G712S	Likely benign	0	1	172	20
MUT:DYNC1H1:Gly7Cys	PROT:Q14204	DYNC1H1	G	7	C	G7C	Likely benign	0	1	172	5
MUT:DYNC1H1:Gly8Ser	PROT:Q14204	DYNC1H1	G	8	S	G8S	Likely benign	0	1	172	5
MUT:DYNC1H1:His1124Arg	PROT:Q14204	DYNC1H1	H	1124	R	H1124R	Pathogenic	1	1	172	6
MUT:DYNC1H1:His1124Gln	PROT:Q14204	DYNC1H1	H	1124	Q	H1124Q	Likely pathogenic	1	1	172	6
MUT:DYNC1H1:His1412Tyr	PROT:Q14204	DYNC1H1	H	1412	Y	H1412Y	Likely pathogenic	1	1	172	2
MUT:DYNC1H1:His1695Tyr	PROT:Q14204	DYNC1H1	H	1695	Y	H1695Y	Likely benign	0	1	172	2
MUT:DYNC1H1:His1779Gln	PROT:Q14204	DYNC1H1	H	1779	Q	H1779Q	Likely benign	0	1	172	28
MUT:DYNC1H1:His2171Leu	PROT:Q14204	DYNC1H1	H	2171	L	H2171L	Likely benign	0	1	172	68
MUT:DYNC1H1:His306Arg	PROT:Q14204	DYNC1H1	H	306	R	H306R	Pathogenic/Likely pathogenic	1	3	172	12
MUT:DYNC1H1:His4029Gln	PROT:Q14204	DYNC1H1	H	4029	Q	H4029Q	Benign	0	3	172	60
MUT:DYNC1H1:His4119Asn	PROT:Q14204	DYNC1H1	H	4119	N	H4119N	Benign	0	1	172	8
MUT:DYNC1H1:His4466Leu	PROT:Q14204	DYNC1H1	H	4466	L	H4466L	Likely benign	0	1	172	9
MUT:DYNC1H1:Ile119Val	PROT:Q14204	DYNC1H1	I	119	V	I119V	Likely benign	0	1	172	1
MUT:DYNC1H1:Ile1282Thr	PROT:Q14204	DYNC1H1	I	1282	T	I1282T	Likely benign	0	1	172	4
MUT:DYNC1H1:Ile1434Leu	PROT:Q14204	DYNC1H1	I	1434	L	I1434L	Likely benign	0	1	172	20
MUT:DYNC1H1:Ile153Leu	PROT:Q14204	DYNC1H1	I	153	L	I153L	Likely benign	0	1	172	21
MUT:DYNC1H1:Ile153Val	PROT:Q14204	DYNC1H1	I	153	V	I153V	Likely benign	0	1	172	21
MUT:DYNC1H1:Ile165Val	PROT:Q14204	DYNC1H1	I	165	V	I165V	Likely benign	0	1	172	33
MUT:DYNC1H1:Ile1830Thr	PROT:Q14204	DYNC1H1	I	1830	T	I1830T	Likely benign	0	1	172	4
MUT:DYNC1H1:Ile2483Thr	PROT:Q14204	DYNC1H1	I	2483	T	I2483T	Likely benign	0	1	172	20
MUT:DYNC1H1:Ile2822Val	PROT:Q14204	DYNC1H1	I	2822	V	I2822V	Likely benign	0	1	172	27
MUT:DYNC1H1:Ile3351Phe	PROT:Q14204	DYNC1H1	I	3351	F	I3351F	Likely pathogenic	1	1	172	18
MUT:DYNC1H1:Ile3381Met	PROT:Q14204	DYNC1H1	I	3381	M	I3381M	Likely benign	0	1	172	2
MUT:DYNC1H1:Ile3397Val	PROT:Q14204	DYNC1H1	I	3397	V	I3397V	Likely benign	0	1	172	10
MUT:DYNC1H1:Ile384Val	PROT:Q14204	DYNC1H1	I	384	V	I384V	Likely benign	0	1	172	10
MUT:DYNC1H1:Ile3858Val	PROT:Q14204	DYNC1H1	I	3858	V	I3858V	Likely benign	0	1	172	35
MUT:DYNC1H1:Ile3859Val	PROT:Q14204	DYNC1H1	I	3859	V	I3859V	Likely benign	0	1	172	34
MUT:DYNC1H1:Ile3914Met	PROT:Q14204	DYNC1H1	I	3914	M	I3914M	Likely benign	0	1	172	3
MUT:DYNC1H1:Ile4030Thr	PROT:Q14204	DYNC1H1	I	4030	T	I4030T	Benign	0	1	172	59
MUT:DYNC1H1:Ile4164Val	PROT:Q14204	DYNC1H1	I	4164	V	I4164V	Likely benign	0	1	172	2
MUT:DYNC1H1:Ile4189Asn	PROT:Q14204	DYNC1H1	I	4189	N	I4189N	Likely benign	0	1	172	15
MUT:DYNC1H1:Ile4233Val	PROT:Q14204	DYNC1H1	I	4233	V	I4233V	Likely benign	0	1	172	1
MUT:DYNC1H1:Ile4521Val	PROT:Q14204	DYNC1H1	I	4521	V	I4521V	Likely benign	0	1	172	19
MUT:DYNC1H1:Ile609Val	PROT:Q14204	DYNC1H1	I	609	V	I609V	Likely pathogenic	1	1	172	4
MUT:DYNC1H1:Ile720Val	PROT:Q14204	DYNC1H1	I	720	V	I720V	Likely benign	0	1	172	16
MUT:DYNC1H1:Ile816Val	PROT:Q14204	DYNC1H1	I	816	V	I816V	Likely benign	0	1	172	7
MUT:DYNC1H1:Leu1304Pro	PROT:Q14204	DYNC1H1	L	1304	P	L1304P	Likely pathogenic	1	1	172	3
MUT:DYNC1H1:Leu1450Pro	PROT:Q14204	DYNC1H1	L	1450	P	L1450P	Likely pathogenic	1	1	172	36
MUT:DYNC1H1:Leu196Trp	PROT:Q14204	DYNC1H1	L	196	W	L196W	Likely pathogenic	1	1	172	39
MUT:DYNC1H1:Leu2090Phe	PROT:Q14204	DYNC1H1	L	2090	F	L2090F	Likely pathogenic	1	1	172	4
MUT:DYNC1H1:Leu2315Val	PROT:Q14204	DYNC1H1	L	2315	V	L2315V	Likely pathogenic	1	1	172	34
MUT:DYNC1H1:Leu3264Met	PROT:Q14204	DYNC1H1	L	3264	M	L3264M	Likely pathogenic	1	1	172	20
MUT:DYNC1H1:Leu3387Pro	PROT:Q14204	DYNC1H1	L	3387	P	L3387P	Likely pathogenic	1	1	172	1
MUT:DYNC1H1:Leu4002Ser	PROT:Q14204	DYNC1H1	L	4002	S	L4002S	Likely benign	0	1	172	57
MUT:DYNC1H1:Leu4138Val	PROT:Q14204	DYNC1H1	L	4138	V	L4138V	Likely benign	0	1	172	11
MUT:DYNC1H1:Leu4398Phe	PROT:Q14204	DYNC1H1	L	4398	F	L4398F	Likely benign	0	1	172	28
MUT:DYNC1H1:Leu774Pro	PROT:Q14204	DYNC1H1	L	774	P	L774P	Likely pathogenic	1	1	172	20
MUT:DYNC1H1:Lys1099Arg	PROT:Q14204	DYNC1H1	K	1099	R	K1099R	Benign	0	1	172	1
MUT:DYNC1H1:Lys1865Arg	PROT:Q14204	DYNC1H1	K	1865	R	K1865R	Benign/Likely benign	0	1	172	13
MUT:DYNC1H1:Lys1917Glu	PROT:Q14204	DYNC1H1	K	1917	E	K1917E	Likely pathogenic	1	1	172	5
MUT:DYNC1H1:Lys2261Arg	PROT:Q14204	DYNC1H1	K	2261	R	K2261R	Likely pathogenic	1	1	172	0
MUT:DYNC1H1:Lys2561Glu	PROT:Q14204	DYNC1H1	K	2561	E	K2561E	Likely benign	0	1	172	0
MUT:DYNC1H1:Lys305Asn	PROT:Q14204	DYNC1H1	K	305	N	K305N	Likely pathogenic	1	1	172	13
MUT:DYNC1H1:Lys3241Glu	PROT:Q14204	DYNC1H1	K	3241	E	K3241E	Likely pathogenic	1	1	172	16
MUT:DYNC1H1:Lys3336Met	PROT:Q14204	DYNC1H1	K	3336	M	K3336M	Likely pathogenic	1	1	172	27
MUT:DYNC1H1:Lys3368Arg	PROT:Q14204	DYNC1H1	K	3368	R	K3368R	Likely benign	0	1	172	1
MUT:DYNC1H1:Lys352Arg	PROT:Q14204	DYNC1H1	K	352	R	K352R	Likely benign	0	1	172	4
MUT:DYNC1H1:Lys3861Glu	PROT:Q14204	DYNC1H1	K	3861	E	K3861E	Likely benign	0	1	172	32
MUT:DYNC1H1:Lys3950Asn	PROT:Q14204	DYNC1H1	K	3950	N	K3950N	Likely benign	0	1	172	5
MUT:DYNC1H1:Lys4342Arg	PROT:Q14204	DYNC1H1	K	4342	R	K4342R	Likely benign	0	1	172	0
MUT:DYNC1H1:Lys4342Glu	PROT:Q14204	DYNC1H1	K	4342	E	K4342E	Likely benign	0	1	172	0
MUT:DYNC1H1:Lys4363Thr	PROT:Q14204	DYNC1H1	K	4363	T	K4363T	Likely benign	0	4	172	1
MUT:DYNC1H1:Lys447Glu	PROT:Q14204	DYNC1H1	K	447	E	K447E	Likely pathogenic	1	1	172	41
MUT:DYNC1H1:Met1589Val	PROT:Q14204	DYNC1H1	M	1589	V	M1589V	Likely benign	0	1	172	5
MUT:DYNC1H1:Met2041Thr	PROT:Q14204	DYNC1H1	M	2041	T	M2041T	Likely pathogenic	1	1	172	1
MUT:DYNC1H1:Met2053Leu	PROT:Q14204	DYNC1H1	M	2053	L	M2053L	Likely benign	0	1	172	2
MUT:DYNC1H1:Met212Val	PROT:Q14204	DYNC1H1	M	212	V	M212V	Likely benign	0	1	172	23
MUT:DYNC1H1:Met2481Val	PROT:Q14204	DYNC1H1	M	2481	V	M2481V	Likely benign	0	1	172	22
MUT:DYNC1H1:Met2779Thr	PROT:Q14204	DYNC1H1	M	2779	T	M2779T	Likely benign	0	1	172	9
MUT:DYNC1H1:Met3310Val	PROT:Q14204	DYNC1H1	M	3310	V	M3310V	Pathogenic	1	1	172	1
MUT:DYNC1H1:Met4007Val	PROT:Q14204	DYNC1H1	M	4007	V	M4007V	Likely benign	0	1	172	62
MUT:DYNC1H1:Met4296Ile	PROT:Q14204	DYNC1H1	M	4296	I	M4296I	Likely benign	0	1	172	4
MUT:DYNC1H1:Met4419Ile	PROT:Q14204	DYNC1H1	M	4419	I	M4419I	Likely benign	0	1	172	22
MUT:DYNC1H1:Met4473Ile	PROT:Q14204	DYNC1H1	M	4473	I	M4473I	Likely benign	0	1	172	14
MUT:DYNC1H1:Met466Val	PROT:Q14204	DYNC1H1	M	466	V	M466V	Pathogenic	1	1	172	60
MUT:DYNC1H1:Met581Leu	PROT:Q14204	DYNC1H1	M	581	L	M581L	Likely pathogenic	1	2	172	5
MUT:DYNC1H1:Met691Leu	PROT:Q14204	DYNC1H1	M	691	L	M691L	Benign/Likely benign	0	2	172	1
MUT:DYNC1H1:Phe1093Ser	PROT:Q14204	DYNC1H1	F	1093	S	F1093S	Pathogenic	1	1	172	7
MUT:DYNC1H1:Phe152Tyr	PROT:Q14204	DYNC1H1	F	152	Y	F152Y	Likely benign	0	1	172	20
MUT:DYNC1H1:Phe1836Ser	PROT:Q14204	DYNC1H1	F	1836	S	F1836S	Likely benign	0	1	172	1
MUT:DYNC1H1:Phe2858Leu	PROT:Q14204	DYNC1H1	F	2858	L	F2858L	Likely benign	0	1	172	2
MUT:DYNC1H1:Phe4147Leu	PROT:Q14204	DYNC1H1	F	4147	L	F4147L	Likely benign	0	1	172	7
MUT:DYNC1H1:Phe469Leu	PROT:Q14204	DYNC1H1	F	469	L	F469L	Likely pathogenic	1	1	172	63
MUT:DYNC1H1:Phe623Leu	PROT:Q14204	DYNC1H1	F	623	L	F623L	Likely pathogenic	1	1	172	1
MUT:DYNC1H1:Pro1356Leu	PROT:Q14204	DYNC1H1	P	1356	L	P1356L	Likely pathogenic	1	1	172	9
MUT:DYNC1H1:Pro1511Leu	PROT:Q14204	DYNC1H1	P	1511	L	P1511L	Pathogenic/Likely pathogenic	1	3	172	3
MUT:DYNC1H1:Pro1988Leu	PROT:Q14204	DYNC1H1	P	1988	L	P1988L	Likely benign	0	1	172	4
MUT:DYNC1H1:Pro2425Leu	PROT:Q14204	DYNC1H1	P	2425	L	P2425L	Likely benign	0	1	172	4
MUT:DYNC1H1:Pro3391Leu	PROT:Q14204	DYNC1H1	P	3391	L	P3391L	Likely pathogenic	1	1	172	5
MUT:DYNC1H1:Pro3899Leu	PROT:Q14204	DYNC1H1	P	3899	L	P3899L	Likely benign	0	1	172	6
MUT:DYNC1H1:Pro3922Leu	PROT:Q14204	DYNC1H1	P	3922	L	P3922L	Benign	0	4	172	1
MUT:DYNC1H1:Pro3922Ser	PROT:Q14204	DYNC1H1	P	3922	S	P3922S	Likely benign	0	1	172	1
MUT:DYNC1H1:Pro4313Ser	PROT:Q14204	DYNC1H1	P	4313	S	P4313S	Likely benign	0	1	172	21
MUT:DYNC1H1:Pro4586Leu	PROT:Q14204	DYNC1H1	P	4586	L	P4586L	Likely benign	0	1	172	8
MUT:DYNC1H1:Pro502Leu	PROT:Q14204	DYNC1H1	P	502	L	P502L	Likely benign	0	1	172	37
MUT:DYNC1H1:Pro776Leu	PROT:Q14204	DYNC1H1	P	776	L	P776L	Pathogenic	1	2	172	22
MUT:DYNC1H1:Ser1313Gly	PROT:Q14204	DYNC1H1	S	1313	G	S1313G	Likely benign	0	1	172	0
MUT:DYNC1H1:Ser13Leu	PROT:Q14204	DYNC1H1	S	13	L	S13L	Likely benign	0	1	172	0
MUT:DYNC1H1:Ser141Asn	PROT:Q14204	DYNC1H1	S	141	N	S141N	Benign/Likely benign	0	1	172	9
MUT:DYNC1H1:Ser1671Ala	PROT:Q14204	DYNC1H1	S	1671	A	S1671A	Likely benign	0	1	172	22
MUT:DYNC1H1:Ser1840Arg	PROT:Q14204	DYNC1H1	S	1840	R	S1840R	Likely benign	0	1	172	0
MUT:DYNC1H1:Ser2290Arg	PROT:Q14204	DYNC1H1	S	2290	R	S2290R	Likely pathogenic	1	1	172	9
MUT:DYNC1H1:Ser28Leu	PROT:Q14204	DYNC1H1	S	28	L	S28L	Likely benign	0	1	172	8
MUT:DYNC1H1:Ser2957Asn	PROT:Q14204	DYNC1H1	S	2957	N	S2957N	Likely benign	0	1	172	40
MUT:DYNC1H1:Ser3111Thr	PROT:Q14204	DYNC1H1	S	3111	T	S3111T	Likely benign	0	1	172	1
MUT:DYNC1H1:Ser315Asn	PROT:Q14204	DYNC1H1	S	315	N	S315N	Likely pathogenic	1	1	172	3
MUT:DYNC1H1:Ser3493Ile	PROT:Q14204	DYNC1H1	S	3493	I	S3493I	Likely pathogenic	1	1	172	13
MUT:DYNC1H1:Ser3672Leu	PROT:Q14204	DYNC1H1	S	3672	L	S3672L	Pathogenic/Likely pathogenic	1	2	172	32
MUT:DYNC1H1:Ser3917Arg	PROT:Q14204	DYNC1H1	S	3917	R	S3917R	Benign/Likely benign	0	1	172	0
MUT:DYNC1H1:Ser4016Cys	PROT:Q14204	DYNC1H1	S	4016	C	S4016C	Likely benign	0	1	172	71
MUT:DYNC1H1:Ser4603Ile	PROT:Q14204	DYNC1H1	S	4603	I	S4603I	Likely benign	0	1	172	0
MUT:DYNC1H1:Thr1013Ile	PROT:Q14204	DYNC1H1	T	1013	I	T1013I	Likely benign	0	1	172	18
MUT:DYNC1H1:Thr1140Met	PROT:Q14204	DYNC1H1	T	1140	M	T1140M	Likely benign	0	2	172	3
MUT:DYNC1H1:Thr1309Ile	PROT:Q14204	DYNC1H1	T	1309	I	T1309I	Likely benign	0	1	172	4
MUT:DYNC1H1:Thr1882Asn	PROT:Q14204	DYNC1H1	T	1882	N	T1882N	Likely pathogenic	1	1	172	0
MUT:DYNC1H1:Thr2192Ile	PROT:Q14204	DYNC1H1	T	2192	I	T2192I	Likely benign	0	1	172	47
MUT:DYNC1H1:Thr2428Met	PROT:Q14204	DYNC1H1	T	2428	M	T2428M	Likely benign	0	1	172	1
MUT:DYNC1H1:Thr2745Lys	PROT:Q14204	DYNC1H1	T	2745	K	T2745K	Pathogenic	1	1	172	10
MUT:DYNC1H1:Thr2852Met	PROT:Q14204	DYNC1H1	T	2852	M	T2852M	Likely benign	0	1	172	4
MUT:DYNC1H1:Thr3663Ser	PROT:Q14204	DYNC1H1	T	3663	S	T3663S	Likely benign	0	1	172	23
MUT:DYNC1H1:Thr3921Ser	PROT:Q14204	DYNC1H1	T	3921	S	T3921S	Likely benign	0	1	172	0
MUT:DYNC1H1:Thr3981Arg	PROT:Q14204	DYNC1H1	T	3981	R	T3981R	Benign/Likely benign	0	4	172	36
MUT:DYNC1H1:Thr4011Ala	PROT:Q14204	DYNC1H1	T	4011	A	T4011A	Likely benign	0	1	172	66
MUT:DYNC1H1:Thr4317Met	PROT:Q14204	DYNC1H1	T	4317	M	T4317M	Likely benign	0	1	172	24
MUT:DYNC1H1:Thr4364Met	PROT:Q14204	DYNC1H1	T	4364	M	T4364M	Likely benign	0	1	172	0
MUT:DYNC1H1:Thr4450Met	PROT:Q14204	DYNC1H1	T	4450	M	T4450M	Likely benign	0	2	172	7
MUT:DYNC1H1:Thr4468Met	PROT:Q14204	DYNC1H1	T	4468	M	T4468M	Likely benign	0	1	172	11
MUT:DYNC1H1:Thr4569Met	PROT:Q14204	DYNC1H1	T	4569	M	T4569M	Likely benign	0	1	172	25
MUT:DYNC1H1:Thr4614Ser	PROT:Q14204	DYNC1H1	T	4614	S	T4614S	Likely benign	0	1	172	0
MUT:DYNC1H1:Thr489Met	PROT:Q14204	DYNC1H1	T	489	M	T489M	Likely benign	0	1	172	50
MUT:DYNC1H1:Trp1054Cys	PROT:Q14204	DYNC1H1	W	1054	C	W1054C	Likely pathogenic	1	1	172	24
MUT:DYNC1H1:Trp1261Gly	PROT:Q14204	DYNC1H1	W	1261	G	W1261G	Pathogenic	1	1	172	2
MUT:DYNC1H1:Tyr1738Phe	PROT:Q14204	DYNC1H1	Y	1738	F	Y1738F	Likely benign	0	1	172	0
MUT:DYNC1H1:Tyr2693His	PROT:Q14204	DYNC1H1	Y	2693	H	Y2693H	Likely benign	0	1	172	9
MUT:DYNC1H1:Tyr3451Cys	PROT:Q14204	DYNC1H1	Y	3451	C	Y3451C	Likely pathogenic	1	1	172	0
MUT:DYNC1H1:Tyr406His	PROT:Q14204	DYNC1H1	Y	406	H	Y406H	Likely benign	0	1	172	0
MUT:DYNC1H1:Tyr970Cys	PROT:Q14204	DYNC1H1	Y	970	C	Y970C	Likely pathogenic	1	2	172	0
MUT:DYNC1H1:Val1008Ile	PROT:Q14204	DYNC1H1	V	1008	I	V1008I	Likely benign	0	1	172	13
MUT:DYNC1H1:Val1116Ala	PROT:Q14204	DYNC1H1	V	1116	A	V1116A	Likely pathogenic	1	1	172	1
MUT:DYNC1H1:Val137Ile	PROT:Q14204	DYNC1H1	V	137	I	V137I	Benign/Likely benign	0	2	172	5
MUT:DYNC1H1:Val1437Ala	PROT:Q14204	DYNC1H1	V	1437	A	V1437A	Likely benign	0	1	172	23
MUT:DYNC1H1:Val1449Ile	PROT:Q14204	DYNC1H1	V	1449	I	V1449I	Likely benign	0	1	172	35
MUT:DYNC1H1:Val1469Met	PROT:Q14204	DYNC1H1	V	1469	M	V1469M	Likely benign	0	1	172	29
MUT:DYNC1H1:Val1762Ala	PROT:Q14204	DYNC1H1	V	1762	A	V1762A	Likely benign	0	1	172	24
MUT:DYNC1H1:Val216Ile	PROT:Q14204	DYNC1H1	V	216	I	V216I	Likely benign	0	1	172	19
MUT:DYNC1H1:Val2291Gly	PROT:Q14204	DYNC1H1	V	2291	G	V2291G	Likely pathogenic	1	1	172	10
MUT:DYNC1H1:Val2302Ile	PROT:Q14204	DYNC1H1	V	2302	I	V2302I	Benign/Likely benign	0	1	172	21
MUT:DYNC1H1:Val2368Met	PROT:Q14204	DYNC1H1	V	2368	M	V2368M	Likely benign	0	1	172	16
MUT:DYNC1H1:Val236Ile	PROT:Q14204	DYNC1H1	V	236	I	V236I	Benign/Likely benign	0	1	172	1
MUT:DYNC1H1:Val2568Ile	PROT:Q14204	DYNC1H1	V	2568	I	V2568I	Likely benign	0	1	172	7
MUT:DYNC1H1:Val2660Gly	PROT:Q14204	DYNC1H1	V	2660	G	V2660G	Likely benign	0	6	172	42
MUT:DYNC1H1:Val2838Ile	PROT:Q14204	DYNC1H1	V	2838	I	V2838I	Likely benign	0	1	172	18
MUT:DYNC1H1:Val29Met	PROT:Q14204	DYNC1H1	V	29	M	V29M	Likely benign	0	1	172	7
MUT:DYNC1H1:Val3064Ile	PROT:Q14204	DYNC1H1	V	3064	I	V3064I	Likely benign	0	1	172	12
MUT:DYNC1H1:Val3128Phe	PROT:Q14204	DYNC1H1	V	3128	F	V3128F	Likely benign	0	1	172	11
MUT:DYNC1H1:Val3676Ile	PROT:Q14204	DYNC1H1	V	3676	I	V3676I	Likely benign	0	1	172	36
MUT:DYNC1H1:Val3724Met	PROT:Q14204	DYNC1H1	V	3724	M	V3724M	Likely benign	0	1	172	24
MUT:DYNC1H1:Val3849Ile	PROT:Q14204	DYNC1H1	V	3849	I	V3849I	Likely benign	0	2	172	44
MUT:DYNC1H1:Val3936Leu	PROT:Q14204	DYNC1H1	V	3936	L	V3936L	Likely benign	0	1	172	9
MUT:DYNC1H1:Val4256Leu	PROT:Q14204	DYNC1H1	V	4256	L	V4256L	Likely benign	0	1	172	15
MUT:DYNC1H1:Val4256Met	PROT:Q14204	DYNC1H1	V	4256	M	V4256M	Likely benign	0	1	172	15
MUT:DYNC1H1:Val499Ala	PROT:Q14204	DYNC1H1	V	499	A	V499A	Likely benign	0	1	172	40
MUT:DYNC1H1:Val560Met	PROT:Q14204	DYNC1H1	V	560	M	V560M	Pathogenic	1	1	172	9
MUT:DYNC1H1:Val593Phe	PROT:Q14204	DYNC1H1	V	593	F	V593F	Likely pathogenic	1	1	172	17
MUT:DYNC1H1:Val612Met	PROT:Q14204	DYNC1H1	V	612	M	V612M	Pathogenic	1	2	172	1
MUT:DYNC1H1:Val638Ile	PROT:Q14204	DYNC1H1	V	638	I	V638I	Likely benign	0	2	172	14
MUT:DYNC1H1:Val668Asp	PROT:Q14204	DYNC1H1	V	668	D	V668D	Likely pathogenic	1	1	172	3
MUT:DYNC1H1:Val677Met	PROT:Q14204	DYNC1H1	V	677	M	V677M	Likely benign	0	1	172	4
MUT:DYNC1H1:Val760Ile	PROT:Q14204	DYNC1H1	V	760	I	V760I	Likely benign	0	1	172	6
MUT:DYNC1H1:Val785Ile	PROT:Q14204	DYNC1H1	V	785	I	V785I	Likely benign	0	1	172	24
MUT:DYNC1H1:Val840Ile	PROT:Q14204	DYNC1H1	V	840	I	V840I	Likely benign	0	1	172	31
MUT:DYNC1H1:Val993Ile	PROT:Q14204	DYNC1H1	V	993	I	V993I	Likely benign	0	1	172	2
MUT:DYNC1I2:Pro516Ala	PROT:Q13409	DYNC1I2	P	516	A	P516A	Likely benign	0	1	18	278
MUT:DYNC1I2:Tyr247Cys	PROT:Q13409	DYNC1I2	Y	247	C	Y247C	Pathogenic	1	2	18	9
MUT:DYNC2I2:Ala22Val	PROT:Q96EX3	DYNC2I2	A	22	V	A22V	Benign/Likely benign	0	3	6	316
MUT:DYNC2I2:Ala341Val	PROT:Q96EX3	DYNC2I2	A	341	V	A341V	Pathogenic	1	1	6	2
MUT:DYNC2I2:Arg182Trp	PROT:Q96EX3	DYNC2I2	R	182	W	R182W	Pathogenic/Likely pathogenic	1	2	6	156
MUT:DYNC2I2:Arg206Cys	PROT:Q96EX3	DYNC2I2	R	206	C	R206C	Benign/Likely benign	0	2	6	132
MUT:DYNC2I2:Arg447Gln	PROT:Q96EX3	DYNC2I2	R	447	Q	R447Q	Pathogenic	1	1	6	13
MUT:DYNC2I2:Arg447Leu	PROT:Q96EX3	DYNC2I2	R	447	L	R447L	Likely pathogenic	1	1	6	13
MUT:DYNC2I2:Arg447Trp	PROT:Q96EX3	DYNC2I2	R	447	W	R447W	Pathogenic/Likely pathogenic	1	1	6	13
MUT:DYNC2I2:Gln466Pro	PROT:Q96EX3	DYNC2I2	Q	466	P	Q466P	Pathogenic/Likely pathogenic	1	1	6	5
MUT:DYNC2I2:Gly259Val	PROT:Q96EX3	DYNC2I2	G	259	V	G259V	Likely pathogenic	1	1	6	79
MUT:DYNC2I2:Gly356Ser	PROT:Q96EX3	DYNC2I2	G	356	S	G356S	Benign/Likely benign	0	2	6	12
MUT:DYNC2I2:Gly36Trp	PROT:Q96EX3	DYNC2I2	G	36	W	G36W	Likely benign	0	1	6	302
MUT:DYNC2I2:Gly36Val	PROT:Q96EX3	DYNC2I2	G	36	V	G36V	Likely benign	0	2	6	302
MUT:DYNC2I2:Gly8Arg	PROT:Q96EX3	DYNC2I2	G	8	R	G8R	Likely benign	0	1	6	330
MUT:DYNC2I2:Leu475Phe	PROT:Q96EX3	DYNC2I2	L	475	F	L475F	Benign	0	1	6	2
MUT:DYNC2I2:Lys436Arg	PROT:Q96EX3	DYNC2I2	K	436	R	K436R	Pathogenic	1	1	6	2
MUT:DYNC2I2:Phe312Ser	PROT:Q96EX3	DYNC2I2	F	312	S	F312S	Pathogenic/Likely pathogenic	1	1	6	26
MUT:DYNC2I2:Pro7Ser	PROT:Q96EX3	DYNC2I2	P	7	S	P7S	Likely benign	0	2	6	331
MUT:DYNC2I2:Thr354Ala	PROT:Q96EX3	DYNC2I2	T	354	A	T354A	Pathogenic/Likely pathogenic	1	1	6	10
MUT:DYNC2I2:Thr354Met	PROT:Q96EX3	DYNC2I2	T	354	M	T354M	Likely pathogenic	1	2	6	10
MUT:DYNC2I2:Trp60Gly	PROT:Q96EX3	DYNC2I2	W	60	G	W60G	Benign	0	1	6	278
MUT:DYRK1B:Ala418Thr	PROT:Q9Y463	DYRK1B	A	418	T	A418T	Likely benign	0	1	7	142
MUT:DYRK1B:Arg102Cys	PROT:Q9Y463	DYRK1B	R	102	C	R102C	Pathogenic	1	1	7	17
MUT:DYRK1B:Arg595Gln	PROT:Q9Y463	DYRK1B	R	595	Q	R595Q	Likely benign	0	1	7	319
MUT:DYRK1B:Arg595Trp	PROT:Q9Y463	DYRK1B	R	595	W	R595W	Benign	0	1	7	319
MUT:DYRK1B:Gly352Ala	PROT:Q9Y463	DYRK1B	G	352	A	G352A	Benign	0	1	7	76
MUT:DYRK1B:Gly429Ser	PROT:Q9Y463	DYRK1B	G	429	S	G429S	Benign	0	1	7	153
MUT:DYRK1B:His90Pro	PROT:Q9Y463	DYRK1B	H	90	P	H90P	Pathogenic	1	1	7	29
MUT:DYRK1B:Leu28Pro	PROT:Q9Y463	DYRK1B	L	28	P	L28P	Benign	0	1	7	21
MUT:DYRK1B:Pro578Leu	PROT:Q9Y463	DYRK1B	P	578	L	P578L	Benign	0	1	7	302
MUT:DYRK1B:Pro578Ser	PROT:Q9Y463	DYRK1B	P	578	S	P578S	Benign/Likely benign	0	1	7	302
MUT:DYRK1B:Pro609Leu	PROT:Q9Y463	DYRK1B	P	609	L	P609L	Likely benign	0	1	7	333
MUT:DYRK1B:Ser462Arg	PROT:Q9Y463	DYRK1B	S	462	R	S462R	Likely benign	0	1	7	186
MUT:DYRK1B:Thr223Met	PROT:Q9Y463	DYRK1B	T	223	M	T223M	Likely benign	0	1	7	33
MUT:DYSF:Ala1254Thr	PROT:O75923	DYSF	A	1254	T	A1254T	Likely benign	0	2	27	65
MUT:DYSF:Ala130Thr	PROT:O75923	DYSF	A	130	T	A130T	Likely benign	0	1	27	30
MUT:DYSF:Ala1978Thr	PROT:O75923	DYSF	A	1978	T	A1978T	Likely benign	0	2	27	120
MUT:DYSF:Ala202Glu	PROT:O75923	DYSF	A	202	E	A202E	Benign	0	4	27	5
MUT:DYSF:Ala2105Thr	PROT:O75923	DYSF	A	2105	T	A2105T	Pathogenic	1	4	27	247
MUT:DYSF:Ala382Val	PROT:O75923	DYSF	A	382	V	A382V	Benign/Likely benign	0	3	27	31
MUT:DYSF:Ala508Val	PROT:O75923	DYSF	A	508	V	A508V	Likely benign	0	1	27	54
MUT:DYSF:Ala519Val	PROT:O75923	DYSF	A	519	V	A519V	Likely benign	0	1	27	65
MUT:DYSF:Ala801Val	PROT:O75923	DYSF	A	801	V	A801V	Likely benign	0	2	27	36
MUT:DYSF:Arg1040Gln	PROT:O75923	DYSF	R	1040	Q	R1040Q	Benign	0	3	27	57
MUT:DYSF:Arg1056Gln	PROT:O75923	DYSF	R	1056	Q	R1056Q	Pathogenic	1	6	27	73
MUT:DYSF:Arg1056Pro	PROT:O75923	DYSF	R	1056	P	R1056P	Pathogenic	1	3	27	73
MUT:DYSF:Arg1057Leu	PROT:O75923	DYSF	R	1057	L	R1057L	Pathogenic	1	2	27	74
MUT:DYSF:Arg1057Trp	PROT:O75923	DYSF	R	1057	W	R1057W	Pathogenic	1	5	27	74
MUT:DYSF:Arg1058Trp	PROT:O75923	DYSF	R	1058	W	R1058W	Pathogenic	1	4	27	75
MUT:DYSF:Arg1059Cys	PROT:O75923	DYSF	R	1059	C	R1059C	Likely pathogenic	1	4	27	76
MUT:DYSF:Arg1064His	PROT:O75923	DYSF	R	1064	H	R1064H	Pathogenic	1	4	27	81
MUT:DYSF:Arg1064Ser	PROT:O75923	DYSF	R	1064	S	R1064S	Likely pathogenic	1	1	27	81
MUT:DYSF:Arg1113Cys	PROT:O75923	DYSF	R	1113	C	R1113C	Benign/Likely benign	0	2	27	130
MUT:DYSF:Arg1349Leu	PROT:O75923	DYSF	R	1349	L	R1349L	Benign	0	3	27	30
MUT:DYSF:Arg1360Gly	PROT:O75923	DYSF	R	1360	G	R1360G	Pathogenic/Likely pathogenic	1	3	27	41
MUT:DYSF:Arg1360Trp	PROT:O75923	DYSF	R	1360	W	R1360W	Likely pathogenic	1	4	27	41
MUT:DYSF:Arg1568Gln	PROT:O75923	DYSF	R	1568	Q	R1568Q	Likely benign	0	1	27	22
MUT:DYSF:Arg1620His	PROT:O75923	DYSF	R	1620	H	R1620H	Benign	0	3	27	38
MUT:DYSF:Arg1732Gln	PROT:O75923	DYSF	R	1732	Q	R1732Q	Pathogenic	1	4	27	48
MUT:DYSF:Arg1732Pro	PROT:O75923	DYSF	R	1732	P	R1732P	Likely pathogenic	1	1	27	48
MUT:DYSF:Arg1732Trp	PROT:O75923	DYSF	R	1732	W	R1732W	Pathogenic	1	4	27	48
MUT:DYSF:Arg1807Gln	PROT:O75923	DYSF	R	1807	Q	R1807Q	Pathogenic	1	5	27	3
MUT:DYSF:Arg1807Pro	PROT:O75923	DYSF	R	1807	P	R1807P	Likely pathogenic	1	1	27	3
MUT:DYSF:Arg1807Trp	PROT:O75923	DYSF	R	1807	W	R1807W	Pathogenic	1	4	27	3
MUT:DYSF:Arg1849Lys	PROT:O75923	DYSF	R	1849	K	R1849K	Pathogenic	1	3	27	9
MUT:DYSF:Arg1970His	PROT:O75923	DYSF	R	1970	H	R1970H	Likely benign	0	1	27	112
MUT:DYSF:Arg2045Gln	PROT:O75923	DYSF	R	2045	Q	R2045Q	Likely benign	0	1	27	187
MUT:DYSF:Arg2081Cys	PROT:O75923	DYSF	R	2081	C	R2081C	Pathogenic	1	5	27	223
MUT:DYSF:Arg283Gln	PROT:O75923	DYSF	R	283	Q	R283Q	Likely benign	0	1	27	41
MUT:DYSF:Arg285Trp	PROT:O75923	DYSF	R	285	W	R285W	Pathogenic	1	5	27	39
MUT:DYSF:Arg409Gln	PROT:O75923	DYSF	R	409	Q	R409Q	Likely benign	0	2	27	4
MUT:DYSF:Arg573Trp	PROT:O75923	DYSF	R	573	W	R573W	Pathogenic	1	5	27	61
MUT:DYSF:Arg600Gln	PROT:O75923	DYSF	R	600	Q	R600Q	Likely benign	0	2	27	34
MUT:DYSF:Arg600Leu	PROT:O75923	DYSF	R	600	L	R600L	Benign	0	3	27	34
MUT:DYSF:Arg977Trp	PROT:O75923	DYSF	R	977	W	R977W	Pathogenic	1	6	27	6
MUT:DYSF:Asn1952Ser	PROT:O75923	DYSF	N	1952	S	N1952S	Likely benign	0	1	27	94
MUT:DYSF:Asp1477Gly	PROT:O75923	DYSF	D	1477	G	D1477G	Benign	0	2	27	55
MUT:DYSF:Asp1876Asn	PROT:O75923	DYSF	D	1876	N	D1876N	Pathogenic	1	5	27	18
MUT:DYSF:Asp1876Glu	PROT:O75923	DYSF	D	1876	E	D1876E	Likely pathogenic	1	1	27	18
MUT:DYSF:Asp1876His	PROT:O75923	DYSF	D	1876	H	D1876H	Likely pathogenic	1	1	27	18
MUT:DYSF:Asp1894Val	PROT:O75923	DYSF	D	1894	V	D1894V	Likely pathogenic	1	1	27	36
MUT:DYSF:Asp1915Asn	PROT:O75923	DYSF	D	1915	N	D1915N	Benign	0	3	27	57
MUT:DYSF:Asp1953Gly	PROT:O75923	DYSF	D	1953	G	D1953G	Likely pathogenic	1	1	27	95
MUT:DYSF:Asp1967Asn	PROT:O75923	DYSF	D	1967	N	D1967N	Likely benign	0	1	27	109
MUT:DYSF:Asp320Val	PROT:O75923	DYSF	D	320	V	D320V	Pathogenic	1	4	27	4
MUT:DYSF:Asp422Asn	PROT:O75923	DYSF	D	422	N	D422N	Pathogenic	1	4	27	9
MUT:DYSF:Asp422Glu	PROT:O75923	DYSF	D	422	E	D422E	Likely benign	0	2	27	9
MUT:DYSF:Asp422Gly	PROT:O75923	DYSF	D	422	G	D422G	Likely pathogenic	1	1	27	9
MUT:DYSF:Asp643Tyr	PROT:O75923	DYSF	D	643	Y	D643Y	Pathogenic	1	1	27	5
MUT:DYSF:Asp744Val	PROT:O75923	DYSF	D	744	V	D744V	Likely benign	0	1	27	93
MUT:DYSF:Asp881Ala	PROT:O75923	DYSF	D	881	A	D881A	Benign/Likely benign	0	2	27	29
MUT:DYSF:Cys1174Arg	PROT:O75923	DYSF	C	1174	R	C1174R	Likely pathogenic	1	1	27	145
MUT:DYSF:Cys1379Arg	PROT:O75923	DYSF	C	1379	R	C1379R	Pathogenic/Likely pathogenic	1	3	27	60
MUT:DYSF:Cys1717Arg	PROT:O75923	DYSF	C	1717	R	C1717R	Pathogenic	1	4	27	33
MUT:DYSF:Cys1717Tyr	PROT:O75923	DYSF	C	1717	Y	C1717Y	Pathogenic	1	3	27	33
MUT:DYSF:Cys1854Phe	PROT:O75923	DYSF	C	1854	F	C1854F	Pathogenic	1	3	27	4
MUT:DYSF:Gln1341Glu	PROT:O75923	DYSF	Q	1341	E	Q1341E	Likely benign	0	3	27	22
MUT:DYSF:Gln1605Leu	PROT:O75923	DYSF	Q	1605	L	Q1605L	Likely benign	0	1	27	53
MUT:DYSF:Gln253His	PROT:O75923	DYSF	Q	253	H	Q253H	Likely pathogenic	1	3	27	56
MUT:DYSF:Glu1353Lys	PROT:O75923	DYSF	E	1353	K	E1353K	Pathogenic	1	5	27	34
MUT:DYSF:Glu1773Gly	PROT:O75923	DYSF	E	1773	G	E1773G	Pathogenic	1	1	27	31
MUT:DYSF:Glu1805Lys	PROT:O75923	DYSF	E	1805	K	E1805K	Pathogenic	1	3	27	1
MUT:DYSF:Glu421Gln	PROT:O75923	DYSF	E	421	Q	E421Q	Pathogenic	1	1	27	8
MUT:DYSF:Glu421Lys	PROT:O75923	DYSF	E	421	K	E421K	Likely pathogenic	1	5	27	8
MUT:DYSF:Glu489Lys	PROT:O75923	DYSF	E	489	K	E489K	Benign	0	3	27	35
MUT:DYSF:Glu747Lys	PROT:O75923	DYSF	E	747	K	E747K	Likely benign	0	2	27	90
MUT:DYSF:Gly1029Arg	PROT:O75923	DYSF	G	1029	R	G1029R	Pathogenic	1	1	27	46
MUT:DYSF:Gly1286Arg	PROT:O75923	DYSF	G	1286	R	G1286R	Likely pathogenic	1	1	27	33
MUT:DYSF:Gly129Glu	PROT:O75923	DYSF	G	129	E	G129E	Benign	0	6	27	29
MUT:DYSF:Gly1436Arg	PROT:O75923	DYSF	G	1436	R	G1436R	Likely pathogenic	1	1	27	96
MUT:DYSF:Gly1436Asp	PROT:O75923	DYSF	G	1436	D	G1436D	Pathogenic/Likely pathogenic	1	4	27	96
MUT:DYSF:Gly1667Arg	PROT:O75923	DYSF	G	1667	R	G1667R	Pathogenic	1	1	27	9
MUT:DYSF:Gly1667Val	PROT:O75923	DYSF	G	1667	V	G1667V	Pathogenic	1	2	27	9
MUT:DYSF:Gly1718Glu	PROT:O75923	DYSF	G	1718	E	G1718E	Likely pathogenic	1	1	27	34
MUT:DYSF:Gly1820Arg	PROT:O75923	DYSF	G	1820	R	G1820R	Likely pathogenic	1	2	27	16
MUT:DYSF:Gly1881Asp	PROT:O75923	DYSF	G	1881	D	G1881D	Likely pathogenic	1	1	27	23
MUT:DYSF:Gly1904Asp	PROT:O75923	DYSF	G	1904	D	G1904D	Likely pathogenic	1	3	27	46
MUT:DYSF:Gly2042Asp	PROT:O75923	DYSF	G	2042	D	G2042D	Likely pathogenic	1	3	27	184
MUT:DYSF:Gly2044Asp	PROT:O75923	DYSF	G	2044	D	G2044D	Likely pathogenic	1	1	27	186
MUT:DYSF:Gly210Arg	PROT:O75923	DYSF	G	210	R	G210R	Likely benign	0	3	27	13
MUT:DYSF:Gly266Ala	PROT:O75923	DYSF	G	266	A	G266A	Likely pathogenic	1	1	27	58
MUT:DYSF:Gly266Glu	PROT:O75923	DYSF	G	266	E	G266E	Pathogenic	1	4	27	58
MUT:DYSF:Gly266Trp	PROT:O75923	DYSF	G	266	W	G266W	Likely pathogenic	1	1	27	58
MUT:DYSF:Gly331Arg	PROT:O75923	DYSF	G	331	R	G331R	Pathogenic	1	4	27	7
MUT:DYSF:Gly331Trp	PROT:O75923	DYSF	G	331	W	G331W	Pathogenic	1	3	27	7
MUT:DYSF:Gly367Ala	PROT:O75923	DYSF	G	367	A	G367A	Likely pathogenic	1	1	27	43
MUT:DYSF:Gly367Asp	PROT:O75923	DYSF	G	367	D	G367D	Likely pathogenic	1	1	27	43
MUT:DYSF:Gly458Arg	PROT:O75923	DYSF	G	458	R	G458R	Pathogenic/Likely pathogenic	1	2	27	4
MUT:DYSF:Gly537Arg	PROT:O75923	DYSF	G	537	R	G537R	Pathogenic	1	3	27	83
MUT:DYSF:Gly537Trp	PROT:O75923	DYSF	G	537	W	G537W	Likely pathogenic	1	1	27	83
MUT:DYSF:Gly636Arg	PROT:O75923	DYSF	G	636	R	G636R	Pathogenic	1	4	27	2
MUT:DYSF:Gly639Arg	PROT:O75923	DYSF	G	639	R	G639R	Pathogenic	1	4	27	1
MUT:DYSF:Gly639Glu	PROT:O75923	DYSF	G	639	E	G639E	Likely pathogenic	1	1	27	1
MUT:DYSF:Gly83Arg	PROT:O75923	DYSF	G	83	R	G83R	Likely pathogenic	1	1	27	11
MUT:DYSF:Gly910Glu	PROT:O75923	DYSF	G	910	E	G910E	Likely benign	0	1	27	0
MUT:DYSF:His1896Arg	PROT:O75923	DYSF	H	1896	R	H1896R	Pathogenic	1	2	27	38
MUT:DYSF:Ile1034Met	PROT:O75923	DYSF	I	1034	M	I1034M	Likely benign	0	2	27	51
MUT:DYSF:Ile1316Val	PROT:O75923	DYSF	I	1316	V	I1316V	Benign	0	6	27	3
MUT:DYSF:Ile1524Thr	PROT:O75923	DYSF	I	1524	T	I1524T	Likely benign	0	1	27	8
MUT:DYSF:Ile1646Thr	PROT:O75923	DYSF	I	1646	T	I1646T	Benign	0	5	27	12
MUT:DYSF:Ile852Val	PROT:O75923	DYSF	I	852	V	I852V	Benign	0	3	27	15
MUT:DYSF:Leu120Pro	PROT:O75923	DYSF	L	120	P	L120P	Pathogenic	1	1	27	20
MUT:DYSF:Leu1347Phe	PROT:O75923	DYSF	L	1347	F	L1347F	Benign	0	1	27	28
MUT:DYSF:Leu1359Pro	PROT:O75923	DYSF	L	1359	P	L1359P	Pathogenic	1	4	27	40
MUT:DYSF:Leu1691Val	PROT:O75923	DYSF	L	1691	V	L1691V	Likely benign	0	1	27	7
MUT:DYSF:Leu1998Pro	PROT:O75923	DYSF	L	1998	P	L1998P	Likely pathogenic	1	1	27	140
MUT:DYSF:Leu221Val	PROT:O75923	DYSF	L	221	V	L221V	Benign/Likely benign	0	2	27	24
MUT:DYSF:Leu298Arg	PROT:O75923	DYSF	L	298	R	L298R	Likely pathogenic	1	1	27	26
MUT:DYSF:Leu354Pro	PROT:O75923	DYSF	L	354	P	L354P	Pathogenic	1	5	27	30
MUT:DYSF:Leu376Pro	PROT:O75923	DYSF	L	376	P	L376P	Likely pathogenic	1	2	27	37
MUT:DYSF:Leu480Pro	PROT:O75923	DYSF	L	480	P	L480P	Pathogenic	1	3	27	26
MUT:DYSF:Leu574Pro	PROT:O75923	DYSF	L	574	P	L574P	Pathogenic	1	4	27	60
MUT:DYSF:Leu712Arg	PROT:O75923	DYSF	L	712	R	L712R	Likely benign	0	1	27	74
MUT:DYSF:Leu908Phe	PROT:O75923	DYSF	L	908	F	L908F	Likely benign	0	1	27	2
MUT:DYSF:Leu978Phe	PROT:O75923	DYSF	L	978	F	L978F	Likely benign	0	1	27	5
MUT:DYSF:Lys1050Asn	PROT:O75923	DYSF	K	1050	N	K1050N	Likely pathogenic	1	1	27	67
MUT:DYSF:Lys1050Glu	PROT:O75923	DYSF	K	1050	E	K1050E	Likely pathogenic	1	1	27	67
MUT:DYSF:Lys1422Asn	PROT:O75923	DYSF	K	1422	N	K1422N	Likely benign	0	1	27	103
MUT:DYSF:Lys1519Ile	PROT:O75923	DYSF	K	1519	I	K1519I	Likely pathogenic	1	1	27	13
MUT:DYSF:Lys1519Thr	PROT:O75923	DYSF	K	1519	T	K1519T	Likely pathogenic	1	4	27	13
MUT:DYSF:Lys1565Thr	PROT:O75923	DYSF	K	1565	T	K1565T	Likely benign	0	4	27	19
MUT:DYSF:Lys1637Asn	PROT:O75923	DYSF	K	1637	N	K1637N	Pathogenic	1	5	27	21
MUT:DYSF:Lys674Glu	PROT:O75923	DYSF	K	674	E	K674E	Likely benign	0	6	27	36
MUT:DYSF:Met1138Val	PROT:O75923	DYSF	M	1138	V	M1138V	Likely benign	0	1	27	155
MUT:DYSF:Met1146Leu	PROT:O75923	DYSF	M	1146	L	M1146L	Likely benign	0	1	27	163
MUT:DYSF:Met1270Thr	PROT:O75923	DYSF	M	1270	T	M1270T	Likely benign	0	1	27	49
MUT:DYSF:Met1669Ile	PROT:O75923	DYSF	M	1669	I	M1669I	Likely benign	0	1	27	11
MUT:DYSF:Met1874Val	PROT:O75923	DYSF	M	1874	V	M1874V	Pathogenic	1	2	27	16
MUT:DYSF:Met1Thr	PROT:O75923	DYSF	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	27	93
MUT:DYSF:Met1Val	PROT:O75923	DYSF	M	1	V	M1V	Likely pathogenic	1	1	27	93
MUT:DYSF:Met2112Val	PROT:O75923	DYSF	M	2112	V	M2112V	Pathogenic	1	3	27	254
MUT:DYSF:Met644Thr	PROT:O75923	DYSF	M	644	T	M644T	Likely benign	0	4	27	6
MUT:DYSF:Phe1906Leu	PROT:O75923	DYSF	F	1906	L	F1906L	Pathogenic/Likely pathogenic	1	3	27	48
MUT:DYSF:Phe1910Ser	PROT:O75923	DYSF	F	1910	S	F1910S	Likely pathogenic	1	1	27	52
MUT:DYSF:Phe2102Cys	PROT:O75923	DYSF	F	2102	C	F2102C	Likely pathogenic	1	1	27	244
MUT:DYSF:Pro135Leu	PROT:O75923	DYSF	P	135	L	P135L	Likely benign	0	3	27	25
MUT:DYSF:Pro137Ser	PROT:O75923	DYSF	P	137	S	P137S	Likely benign	0	1	27	23
MUT:DYSF:Pro1600Ala	PROT:O75923	DYSF	P	1600	A	P1600A	Likely benign	0	1	27	54
MUT:DYSF:Pro1737Arg	PROT:O75923	DYSF	P	1737	R	P1737R	Likely pathogenic	1	2	27	53
MUT:DYSF:Pro1737Leu	PROT:O75923	DYSF	P	1737	L	P1737L	Likely pathogenic	1	1	27	53
MUT:DYSF:Pro1974Leu	PROT:O75923	DYSF	P	1974	L	P1974L	Likely pathogenic	1	3	27	116
MUT:DYSF:Pro2009Ser	PROT:O75923	DYSF	P	2009	S	P2009S	Pathogenic/Likely pathogenic	1	3	27	151
MUT:DYSF:Pro2052Arg	PROT:O75923	DYSF	P	2052	R	P2052R	Likely pathogenic	1	2	27	194
MUT:DYSF:Pro218Leu	PROT:O75923	DYSF	P	218	L	P218L	Likely benign	0	2	27	21
MUT:DYSF:Pro226Gln	PROT:O75923	DYSF	P	226	Q	P226Q	Likely benign	0	1	27	29
MUT:DYSF:Pro292Arg	PROT:O75923	DYSF	P	292	R	P292R	Likely pathogenic	1	1	27	32
MUT:DYSF:Pro389Ser	PROT:O75923	DYSF	P	389	S	P389S	Likely benign	0	1	27	24
MUT:DYSF:Pro809Arg	PROT:O75923	DYSF	P	809	R	P809R	Likely pathogenic	1	5	27	28
MUT:DYSF:Pro809Gln	PROT:O75923	DYSF	P	809	Q	P809Q	Likely pathogenic	1	1	27	28
MUT:DYSF:Ser1018Phe	PROT:O75923	DYSF	S	1018	F	S1018F	Likely benign	0	1	27	35
MUT:DYSF:Ser1145Tyr	PROT:O75923	DYSF	S	1145	Y	S1145Y	Likely benign	0	1	27	162
MUT:DYSF:Ser1711Phe	PROT:O75923	DYSF	S	1711	F	S1711F	Likely pathogenic	1	2	27	27
MUT:DYSF:Ser1726Pro	PROT:O75923	DYSF	S	1726	P	S1726P	Likely pathogenic	1	2	27	42
MUT:DYSF:Ser1997Phe	PROT:O75923	DYSF	S	1997	F	S1997F	Pathogenic	1	1	27	139
MUT:DYSF:Ser321Pro	PROT:O75923	DYSF	S	321	P	S321P	Likely pathogenic	1	3	27	3
MUT:DYSF:Ser372Arg	PROT:O75923	DYSF	S	372	R	S372R	Pathogenic	1	4	27	41
MUT:DYSF:Ser515Leu	PROT:O75923	DYSF	S	515	L	S515L	Likely benign	0	2	27	61
MUT:DYSF:Thr114Ile	PROT:O75923	DYSF	T	114	I	T114I	Benign	0	1	27	14
MUT:DYSF:Thr284Ala	PROT:O75923	DYSF	T	284	A	T284A	Likely pathogenic	1	3	27	40
MUT:DYSF:Thr284Met	PROT:O75923	DYSF	T	284	M	T284M	Pathogenic	1	5	27	40
MUT:DYSF:Thr404Ala	PROT:O75923	DYSF	T	404	A	T404A	Likely benign	0	1	27	9
MUT:DYSF:Thr899Pro	PROT:O75923	DYSF	T	899	P	T899P	Likely pathogenic	1	2	27	11
MUT:DYSF:Trp1010Arg	PROT:O75923	DYSF	W	1010	R	W1010R	Pathogenic	1	4	27	27
MUT:DYSF:Trp1017Cys	PROT:O75923	DYSF	W	1017	C	W1017C	Pathogenic/Likely pathogenic	1	4	27	34
MUT:DYSF:Trp1112Arg	PROT:O75923	DYSF	W	1112	R	W1112R	Likely pathogenic	1	3	27	129
MUT:DYSF:Trp1517Arg	PROT:O75923	DYSF	W	1517	R	W1517R	Likely pathogenic	1	1	27	15
MUT:DYSF:Trp1857Cys	PROT:O75923	DYSF	W	1857	C	W1857C	Likely pathogenic	1	1	27	1
MUT:DYSF:Trp352Gly	PROT:O75923	DYSF	W	352	G	W352G	Likely pathogenic	1	1	27	28
MUT:DYSF:Trp47Arg	PROT:O75923	DYSF	W	47	R	W47R	Likely pathogenic	1	1	27	47
MUT:DYSF:Trp53Arg	PROT:O75923	DYSF	W	53	R	W53R	Likely pathogenic	1	1	27	41
MUT:DYSF:Trp948Cys	PROT:O75923	DYSF	W	948	C	W948C	Pathogenic	1	4	27	35
MUT:DYSF:Tyr1032Cys	PROT:O75923	DYSF	Y	1032	C	Y1032C	Pathogenic	1	4	27	49
MUT:DYSF:Tyr1451Ser	PROT:O75923	DYSF	Y	1451	S	Y1451S	Likely benign	0	2	27	81
MUT:DYSF:Tyr1657Cys	PROT:O75923	DYSF	Y	1657	C	Y1657C	Likely benign	0	2	27	1
MUT:DYSF:Tyr1916His	PROT:O75923	DYSF	Y	1916	H	Y1916H	Likely pathogenic	1	3	27	58
MUT:DYSF:Tyr368His	PROT:O75923	DYSF	Y	368	H	Y368H	Likely pathogenic	1	1	27	44
MUT:DYSF:Val1377Ile	PROT:O75923	DYSF	V	1377	I	V1377I	Likely benign	0	1	27	58
MUT:DYSF:Val1879Met	PROT:O75923	DYSF	V	1879	M	V1879M	Pathogenic	1	3	27	21
MUT:DYSF:Val1895Glu	PROT:O75923	DYSF	V	1895	E	V1895E	Likely pathogenic	1	1	27	37
MUT:DYSF:Val318Glu	PROT:O75923	DYSF	V	318	E	V318E	Pathogenic	1	3	27	6
MUT:DYSF:Val406Leu	PROT:O75923	DYSF	V	406	L	V406L	Benign	0	3	27	7
MUT:DYSF:Val430Met	PROT:O75923	DYSF	V	430	M	V430M	Benign/Likely benign	0	2	27	7
MUT:DYSF:Val507Met	PROT:O75923	DYSF	V	507	M	V507M	Likely benign	0	2	27	53
MUT:DYSF:Val526Leu	PROT:O75923	DYSF	V	526	L	V526L	Pathogenic	1	2	27	72
MUT:DYSF:Val68Asp	PROT:O75923	DYSF	V	68	D	V68D	Pathogenic	1	2	27	26
MUT:DYSF:Val70Gly	PROT:O75923	DYSF	V	70	G	V70G	Pathogenic	1	3	27	24
MUT:DZIP1:Arg63Gln	PROT:Q86YF9	DZIP1	R	63	Q	R63Q	Pathogenic	1	1	2	3
MUT:DZIP1L:Ala229Val	PROT:Q8IYY4	DZIP1L	A	229	V	A229V	Benign	0	4	2	43
MUT:DZIP1L:Ala90Val	PROT:Q8IYY4	DZIP1L	A	90	V	A90V	Pathogenic	1	1	2	87
MUT:DZIP1L:Arg321Gln	PROT:Q8IYY4	DZIP1L	R	321	Q	R321Q	Likely benign	0	1	2	49
MUT:DZIP1L:Arg321Trp	PROT:Q8IYY4	DZIP1L	R	321	W	R321W	Benign	0	1	2	49
MUT:DZIP1L:Arg447Cys	PROT:Q8IYY4	DZIP1L	R	447	C	R447C	Benign	0	4	2	175
MUT:DZIP1L:Arg495Gln	PROT:Q8IYY4	DZIP1L	R	495	Q	R495Q	Benign	0	1	2	223
MUT:DZIP1L:Arg593His	PROT:Q8IYY4	DZIP1L	R	593	H	R593H	Benign	0	1	2	321
MUT:DZIP1L:Arg745Cys	PROT:Q8IYY4	DZIP1L	R	745	C	R745C	Benign/Likely benign	0	1	2	473
MUT:DZIP1L:Arg763Thr	PROT:Q8IYY4	DZIP1L	R	763	T	R763T	Benign/Likely benign	0	2	2	491
MUT:DZIP1L:Gln360Arg	PROT:Q8IYY4	DZIP1L	Q	360	R	Q360R	Likely benign	0	1	2	88
MUT:DZIP1L:Gln665Arg	PROT:Q8IYY4	DZIP1L	Q	665	R	Q665R	Likely benign	0	1	2	393
MUT:DZIP1L:Gln91His	PROT:Q8IYY4	DZIP1L	Q	91	H	Q91H	Likely pathogenic	1	1	2	88
MUT:DZIP1L:His242Arg	PROT:Q8IYY4	DZIP1L	H	242	R	H242R	Likely benign	0	1	2	30
MUT:DZIP1L:His580Arg	PROT:Q8IYY4	DZIP1L	H	580	R	H580R	Benign	0	1	2	308
MUT:DZIP1L:Ile62Val	PROT:Q8IYY4	DZIP1L	I	62	V	I62V	Likely benign	0	1	2	59
MUT:DZIP1L:Lys645Glu	PROT:Q8IYY4	DZIP1L	K	645	E	K645E	Benign	0	1	2	373
MUT:DZIP1L:Pro613Ser	PROT:Q8IYY4	DZIP1L	P	613	S	P613S	Likely benign	0	1	2	341
MUT:DZIP1L:Pro762Ser	PROT:Q8IYY4	DZIP1L	P	762	S	P762S	Benign	0	1	2	490
MUT:DZIP1L:Ser617Phe	PROT:Q8IYY4	DZIP1L	S	617	F	S617F	Likely benign	0	1	2	345
MUT:DZIP1L:Thr545Ala	PROT:Q8IYY4	DZIP1L	T	545	A	T545A	Benign	0	1	2	273
MUT:DZIP1L:Val108Ile	PROT:Q8IYY4	DZIP1L	V	108	I	V108I	Likely benign	0	1	2	105
MUT:DZIP1L:Val192Met	PROT:Q8IYY4	DZIP1L	V	192	M	V192M	Likely benign	0	1	2	80
MUT:DZIP3:Asp6Gly	PROT:Q86Y13	DZIP3	D	6	G	D6G	Benign	0	3	34	3
MUT:E2F1:Ala102Thr	PROT:Q01094	E2F1	A	102	T	A102T	Likely benign	0	1	7	15
MUT:E2F1:Gly200Ser	PROT:Q01094	E2F1	G	200	S	G200S	Benign	0	1	7	36
MUT:E2F1:Gly393Ser	PROT:Q01094	E2F1	G	393	S	G393S	Benign	0	1	7	10
MUT:E2F1:Val276Met	PROT:Q01094	E2F1	V	276	M	V276M	Benign	0	1	7	31
MUT:E4F1:Lys144Gln	PROT:Q66K89	E4F1	K	144	Q	K144Q	Likely pathogenic	1	1	9	21
MUT:EARS2:Ala112Pro	PROT:Q5JPH6	EARS2	A	112	P	A112P	Likely pathogenic	1	1	5	31
MUT:EARS2:Arg107Cys	PROT:Q5JPH6	EARS2	R	107	C	R107C	Likely pathogenic	1	1	5	36
MUT:EARS2:Arg107His	PROT:Q5JPH6	EARS2	R	107	H	R107H	Pathogenic/Likely pathogenic	1	1	5	36
MUT:EARS2:Arg108Trp	PROT:Q5JPH6	EARS2	R	108	W	R108W	Pathogenic/Likely pathogenic	1	1	5	35
MUT:EARS2:Arg6Gly	PROT:Q5JPH6	EARS2	R	6	G	R6G	Benign/Likely benign	0	2	5	38
MUT:EARS2:Arg6Lys	PROT:Q5JPH6	EARS2	R	6	K	R6K	Likely benign	0	1	5	38
MUT:EARS2:Asn365Ser	PROT:Q5JPH6	EARS2	N	365	S	N365S	Likely benign	0	1	5	33
MUT:EARS2:Cys167Arg	PROT:Q5JPH6	EARS2	C	167	R	C167R	Likely pathogenic	1	1	5	24
MUT:EARS2:Cys167Tyr	PROT:Q5JPH6	EARS2	C	167	Y	C167Y	Pathogenic/Likely pathogenic	1	1	5	24
MUT:EARS2:Glu96Lys	PROT:Q5JPH6	EARS2	E	96	K	E96K	Pathogenic	1	1	5	47
MUT:EARS2:Gly110Ser	PROT:Q5JPH6	EARS2	G	110	S	G110S	Pathogenic/Likely pathogenic	1	1	5	33
MUT:EARS2:Lys471Thr	PROT:Q5JPH6	EARS2	K	471	T	K471T	Benign/Likely benign	0	1	5	9
MUT:EARS2:Lys65Glu	PROT:Q5JPH6	EARS2	K	65	E	K65E	Pathogenic	1	1	5	21
MUT:EARS2:Met1Val	PROT:Q5JPH6	EARS2	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	5	43
MUT:EARS2:Ser457Gly	PROT:Q5JPH6	EARS2	S	457	G	S457G	Benign	0	1	5	23
MUT:EARS2:Val194Met	PROT:Q5JPH6	EARS2	V	194	M	V194M	Benign	0	1	5	51
MUT:ECE1:Arg627Trp	PROT:P42892	ECE1	R	627	W	R627W	Likely pathogenic	1	1	14	12
MUT:ECE1:Arg754Cys	PROT:P42892	ECE1	R	754	C	R754C	Pathogenic	1	1	14	5
MUT:ECE1:Asn397Ser	PROT:P42892	ECE1	N	397	S	N397S	Benign	0	1	14	19
MUT:ECE1:Glu173Lys	PROT:P42892	ECE1	E	173	K	E173K	Likely benign	0	1	14	4
MUT:ECE1:Gly656Arg	PROT:P42892	ECE1	G	656	R	G656R	Likely pathogenic	1	1	14	17
MUT:ECE1:Phe356Cys	PROT:P42892	ECE1	F	356	C	F356C	Likely pathogenic	1	1	14	25
MUT:ECE1:Thr354Ala	PROT:P42892	ECE1	T	354	A	T354A	Benign	0	1	14	23
MUT:ECHS1:Ala132Thr	PROT:P30084	ECHS1	A	132	T	A132T	Pathogenic/Likely pathogenic	1	1	17	5
MUT:ECHS1:Ala138Val	PROT:P30084	ECHS1	A	138	V	A138V	Pathogenic	1	1	17	1
MUT:ECHS1:Ala158Asp	PROT:P30084	ECHS1	A	158	D	A158D	Pathogenic	1	1	17	18
MUT:ECHS1:Ala173Val	PROT:P30084	ECHS1	A	173	V	A173V	Pathogenic/Likely pathogenic	1	1	17	3
MUT:ECHS1:Ala188Val	PROT:P30084	ECHS1	A	188	V	A188V	Pathogenic	1	1	17	2
MUT:ECHS1:Ala226Thr	PROT:P30084	ECHS1	A	226	T	A226T	Likely pathogenic	1	1	17	2
MUT:ECHS1:Ala238Val	PROT:P30084	ECHS1	A	238	V	A238V	Pathogenic/Likely pathogenic	1	1	17	10
MUT:ECHS1:Ala278Thr	PROT:P30084	ECHS1	A	278	T	A278T	Likely pathogenic	1	1	17	4
MUT:ECHS1:Ala2Val	PROT:P30084	ECHS1	A	2	V	A2V	Pathogenic	1	2	17	33
MUT:ECHS1:Ala60Gly	PROT:P30084	ECHS1	A	60	G	A60G	Likely pathogenic	1	1	17	4
MUT:ECHS1:Ala84Thr	PROT:P30084	ECHS1	A	84	T	A84T	Pathogenic	1	1	17	17
MUT:ECHS1:Arg25Cys	PROT:P30084	ECHS1	R	25	C	R25C	Likely pathogenic	1	1	17	10
MUT:ECHS1:Arg25Pro	PROT:P30084	ECHS1	R	25	P	R25P	Pathogenic	1	1	17	10
MUT:ECHS1:Arg283Gly	PROT:P30084	ECHS1	R	283	G	R283G	Likely pathogenic	1	1	17	1
MUT:ECHS1:Arg54Cys	PROT:P30084	ECHS1	R	54	C	R54C	Pathogenic/Likely pathogenic	1	2	17	2
MUT:ECHS1:Arg54His	PROT:P30084	ECHS1	R	54	H	R54H	Pathogenic	1	1	17	2
MUT:ECHS1:Asn59Ser	PROT:P30084	ECHS1	N	59	S	N59S	Pathogenic/Likely pathogenic	1	2	17	3
MUT:ECHS1:Cys225Arg	PROT:P30084	ECHS1	C	225	R	C225R	Pathogenic	1	1	17	3
MUT:ECHS1:Gln125Arg	PROT:P30084	ECHS1	Q	125	R	Q125R	Likely benign	0	1	17	12
MUT:ECHS1:Gln159Arg	PROT:P30084	ECHS1	Q	159	R	Q159R	Pathogenic/Likely pathogenic	1	1	17	17
MUT:ECHS1:Glu156Gly	PROT:P30084	ECHS1	E	156	G	E156G	Pathogenic	1	1	17	19
MUT:ECHS1:Glu77Gln	PROT:P30084	ECHS1	E	77	Q	E77Q	Pathogenic	1	1	17	21
MUT:ECHS1:Gly195Ser	PROT:P30084	ECHS1	G	195	S	G195S	Pathogenic/Likely pathogenic	1	1	17	1
MUT:ECHS1:Ile66Thr	PROT:P30084	ECHS1	I	66	T	I66T	Likely pathogenic	1	2	17	10
MUT:ECHS1:Lys273Glu	PROT:P30084	ECHS1	K	273	E	K273E	Pathogenic/Likely pathogenic	1	1	17	9
MUT:ECHS1:Met1Arg	PROT:P30084	ECHS1	M	1	R	M1R	Pathogenic/Likely pathogenic	1	2	17	34
MUT:ECHS1:Met1Leu	PROT:P30084	ECHS1	M	1	L	M1L	Likely pathogenic	1	1	17	34
MUT:ECHS1:Thr180Ala	PROT:P30084	ECHS1	T	180	A	T180A	Pathogenic/Likely pathogenic	1	1	17	4
MUT:ECHS1:Thr277Ile	PROT:P30084	ECHS1	T	277	I	T277I	Pathogenic/Likely pathogenic	1	1	17	5
MUT:ECHS1:Thr75Ile	PROT:P30084	ECHS1	T	75	I	T75I	Benign	0	1	17	19
MUT:ECHS1:Tyr153Asn	PROT:P30084	ECHS1	Y	153	N	Y153N	Likely pathogenic	1	1	17	16
MUT:ECHS1:Val11Ala	PROT:P30084	ECHS1	V	11	A	V11A	Benign	0	1	17	24
MUT:EDC3:Phe54Ser	PROT:Q96F86	EDC3	F	54	S	F54S	Pathogenic	1	1	26	55
MUT:EDEM3:Asp133Asn	PROT:Q9BZQ6	EDEM3	D	133	N	D133N	Likely benign	0	1	4	129
MUT:EDEM3:Asp456Asn	PROT:Q9BZQ6	EDEM3	D	456	N	D456N	Pathogenic	1	1	4	9
MUT:EDEM3:Asp61Gly	PROT:Q9BZQ6	EDEM3	D	61	G	D61G	Pathogenic	1	1	4	201
MUT:EDEM3:Leu402Val	PROT:Q9BZQ6	EDEM3	L	402	V	L402V	Likely pathogenic	1	1	4	45
MUT:EDEM3:Pro746Ser	PROT:Q9BZQ6	EDEM3	P	746	S	P746S	Benign	0	1	4	173
MUT:EDN3:Ala224Thr	PROT:P14138	EDN3	A	224	T	A224T	Likely benign	0	2	1	190
MUT:EDN3:Arg154Trp	PROT:P14138	EDN3	R	154	W	R154W	Likely benign	0	1	1	120
MUT:EDN3:Arg93Gly	PROT:P14138	EDN3	R	93	G	R93G	Pathogenic	1	1	1	59
MUT:EDN3:Cys159Phe	PROT:P14138	EDN3	C	159	F	C159F	Pathogenic	1	1	1	125
MUT:EDN3:His112Arg	PROT:P14138	EDN3	H	112	R	H112R	Pathogenic	1	1	1	78
MUT:EDN3:His112Asn	PROT:P14138	EDN3	H	112	N	H112N	Likely pathogenic	1	1	1	78
MUT:EDN3:Thr98Met	PROT:P14138	EDN3	T	98	M	T98M	Likely pathogenic	1	1	1	64
MUT:EDNRB:Ala144Ser	PROT:P24530	EDNRB	A	144	S	A144S	Likely pathogenic	1	1	13	56
MUT:EDNRB:Ala144Val	PROT:P24530	EDNRB	A	144	V	A144V	Likely pathogenic	1	1	13	56
MUT:EDNRB:Ala183Gly	PROT:P24530	EDNRB	A	183	G	A183G	Pathogenic	1	1	13	17
MUT:EDNRB:Arg10His	PROT:P24530	EDNRB	R	10	H	R10H	Likely benign	0	1	13	190
MUT:EDNRB:Ser184Pro	PROT:P24530	EDNRB	S	184	P	S184P	Likely pathogenic	1	1	13	16
MUT:EDNRB:Val260Phe	PROT:P24530	EDNRB	V	260	F	V260F	Benign/Likely benign	0	1	13	45
MUT:EED:Ala378Val	PROT:O75530	EED	A	378	V	A378V	Likely pathogenic	1	1	19	30
MUT:EED:Arg236Thr	PROT:O75530	EED	R	236	T	R236T	Pathogenic	1	1	19	25
MUT:EED:Arg302Gly	PROT:O75530	EED	R	302	G	R302G	Pathogenic	1	1	19	27
MUT:EED:Arg302Ser	PROT:O75530	EED	R	302	S	R302S	Likely pathogenic	1	1	19	27
MUT:EED:Arg414Gln	PROT:O75530	EED	R	414	Q	R414Q	Likely pathogenic	1	1	19	6
MUT:EED:Asn194Ser	PROT:O75530	EED	N	194	S	N194S	Pathogenic/Likely pathogenic	1	1	19	3
MUT:EED:Asp237Gly	PROT:O75530	EED	D	237	G	D237G	Likely pathogenic	1	1	19	24
MUT:EED:His258Leu	PROT:O75530	EED	H	258	L	H258L	Likely pathogenic	1	1	19	3
MUT:EED:His258Tyr	PROT:O75530	EED	H	258	Y	H258Y	Pathogenic	1	1	19	3
MUT:EED:Ile274Val	PROT:O75530	EED	I	274	V	I274V	Likely benign	0	1	19	1
MUT:EED:Met256Thr	PROT:O75530	EED	M	256	T	M256T	Likely pathogenic	1	1	19	5
MUT:EED:Met366Thr	PROT:O75530	EED	M	366	T	M366T	Likely pathogenic	1	1	19	42
MUT:EED:Thr50Pro	PROT:O75530	EED	T	50	P	T50P	Likely benign	0	2	19	0
MUT:EED:Tyr308Cys	PROT:O75530	EED	Y	308	C	Y308C	Pathogenic	1	1	19	33
MUT:EEF1AKMT4-ECE2:Arg163Cys	PROT:P0DPD8	EEF1AKMT4-ECE2	R	163	C	R163C	Likely pathogenic	1	1	4	47
MUT:EEF1B2:Asp83Asn	PROT:P24534	EEF1B2	D	83	N	D83N	Likely benign	0	1	21	4
MUT:EEF1D:Ala549Ser	PROT:P29692	EEF1D	A	549	S	A549S	Likely benign	0	1	29	284
MUT:EEF1D:Arg288Trp	PROT:P29692	EEF1D	R	288	W	R288W	Likely benign	0	2	29	23
MUT:EEF1D:Arg353Gln	PROT:P29692	EEF1D	R	353	Q	R353Q	Benign	0	1	29	88
MUT:EEF1D:Gly266Ser	PROT:P29692	EEF1D	G	266	S	G266S	Likely benign	0	1	29	1
MUT:EEF1D:Met367Val	PROT:P29692	EEF1D	M	367	V	M367V	Likely pathogenic	1	1	29	102
MUT:EEF1D:Trp594Arg	PROT:P29692	EEF1D	W	594	R	W594R	Pathogenic	1	1	29	329
MUT:EEF2:Glu772Lys	PROT:P13639	EEF2	E	772	K	E772K	Likely pathogenic	1	1	66	7
MUT:EEF2:Pro596His	PROT:P13639	EEF2	P	596	H	P596H	Pathogenic	1	1	66	1
MUT:EFCC1:Gly447Ser	PROT:Q9HA90	EFCC1	G	447	S	G447S	Likely benign	0	2	2	53
MUT:EFEMP1:Arg345Trp	PROT:Q12805	EFEMP1	R	345	W	R345W	Pathogenic/Likely pathogenic	1	3	2	52
MUT:EFEMP1:Arg387Gln	PROT:Q12805	EFEMP1	R	387	Q	R387Q	Benign	0	1	2	10
MUT:EFEMP1:Arg477Cys	PROT:Q12805	EFEMP1	R	477	C	R477C	Likely pathogenic	1	2	2	80
MUT:EFEMP1:Asn80Tyr	PROT:Q12805	EFEMP1	N	80	Y	N80Y	Pathogenic	1	2	2	127
MUT:EFHD1:Thr82Met	PROT:Q9BUP0	EFHD1	T	82	M	T82M	Likely benign	0	1	3	60
MUT:EFL1:Ala991Thr	PROT:Q7Z2Z2	EFL1	A	991	T	A991T	Benign/Likely benign	0	1	12	43
MUT:EFL1:Cys883Gly	PROT:Q7Z2Z2	EFL1	C	883	G	C883G	Pathogenic	1	1	12	18
MUT:EFL1:Glu478Asp	PROT:Q7Z2Z2	EFL1	E	478	D	E478D	Benign	0	1	12	49
MUT:EFL1:His30Arg	PROT:Q7Z2Z2	EFL1	H	30	R	H30R	Likely pathogenic	1	2	12	16
MUT:EFL1:Ile617Val	PROT:Q7Z2Z2	EFL1	I	617	V	I617V	Benign/Likely benign	0	1	12	18
MUT:EFL1:Lys265Asn	PROT:Q7Z2Z2	EFL1	K	265	N	K265N	Benign	0	1	12	83
MUT:EFL1:Lys423Glu	PROT:Q7Z2Z2	EFL1	K	423	E	K423E	Benign/Likely benign	0	1	12	6
MUT:EFL1:Lys711Arg	PROT:Q7Z2Z2	EFL1	K	711	R	K711R	Benign/Likely benign	0	1	12	11
MUT:EFL1:Met756Ile	PROT:Q7Z2Z2	EFL1	M	756	I	M756I	Benign/Likely benign	0	2	12	34
MUT:EFL1:Met776Val	PROT:Q7Z2Z2	EFL1	M	776	V	M776V	Likely benign	0	1	12	54
MUT:EFL1:Phe505Ser	PROT:Q7Z2Z2	EFL1	F	505	S	F505S	Likely pathogenic	1	2	12	23
MUT:EFL1:Ser781Phe	PROT:Q7Z2Z2	EFL1	S	781	F	S781F	Benign	0	1	12	59
MUT:EFNB1:Ala88Thr	PROT:P98172	EFNB1	A	88	T	A88T	Likely benign	0	1	13	75
MUT:EFNB1:Asp61Gly	PROT:P98172	EFNB1	D	61	G	D61G	Likely pathogenic	1	1	13	102
MUT:EFNB1:Cys64Arg	PROT:P98172	EFNB1	C	64	R	C64R	Pathogenic	1	1	13	99
MUT:EFNB1:Gly151Ser	PROT:P98172	EFNB1	G	151	S	G151S	Pathogenic	1	1	13	12
MUT:EFNB1:Gly151Val	PROT:P98172	EFNB1	G	151	V	G151V	Pathogenic	1	1	13	12
MUT:EFNB1:Met158Arg	PROT:P98172	EFNB1	M	158	R	M158R	Likely pathogenic	1	1	13	5
MUT:EFNB1:Met158Ile	PROT:P98172	EFNB1	M	158	I	M158I	Pathogenic	1	1	13	5
MUT:EFNB1:Met158Val	PROT:P98172	EFNB1	M	158	V	M158V	Pathogenic	1	1	13	5
MUT:EFNB1:Met1Val	PROT:P98172	EFNB1	M	1	V	M1V	Pathogenic	1	1	13	162
MUT:EFNB1:Phe44Ser	PROT:P98172	EFNB1	F	44	S	F44S	Likely pathogenic	1	1	13	119
MUT:EFNB1:Pro54Leu	PROT:P98172	EFNB1	P	54	L	P54L	Pathogenic/Likely pathogenic	1	1	13	109
MUT:EFNB1:Ser136Leu	PROT:P98172	EFNB1	S	136	L	S136L	Likely pathogenic	1	1	13	27
MUT:EFNB1:Ser138Phe	PROT:P98172	EFNB1	S	138	F	S138F	Likely pathogenic	1	1	13	25
MUT:EFNB1:Thr111Ile	PROT:P98172	EFNB1	T	111	I	T111I	Pathogenic	1	1	13	52
MUT:EFNB1:Trp37Gly	PROT:P98172	EFNB1	W	37	G	W37G	Pathogenic	1	1	13	126
MUT:EFNB1:Val189Ala	PROT:P98172	EFNB1	V	189	A	V189A	Benign	0	1	13	26
MUT:EFR3A:Arg214His	PROT:Q14156	EFR3A	R	214	H	R214H	Likely benign	0	1	15	5
MUT:EFR3A:His102Arg	PROT:Q14156	EFR3A	H	102	R	H102R	Benign	0	1	15	52
MUT:EFR3A:Ile197Met	PROT:Q14156	EFR3A	I	197	M	I197M	Benign	0	1	15	22
MUT:EFR3A:Ile625Val	PROT:Q14156	EFR3A	I	625	V	I625V	Benign	0	1	15	39
MUT:EFR3A:Lys265Asn	PROT:Q14156	EFR3A	K	265	N	K265N	Benign	0	1	15	39
MUT:EFR3A:Ser675Gly	PROT:Q14156	EFR3A	S	675	G	S675G	Likely benign	0	1	15	5
MUT:EGLN1:Arg371His	PROT:Q9GZT9	EGLN1	R	371	H	R371H	Pathogenic	1	1	5	34
MUT:EGLN1:Arg94Gly	PROT:Q9GZT9	EGLN1	R	94	G	R94G	Benign/Likely benign	0	1	5	31
MUT:EGLN1:Asp4Glu	PROT:Q9GZT9	EGLN1	D	4	E	D4E	Benign/Likely benign	0	4	5	121
MUT:EGLN1:Cys127Ser	PROT:Q9GZT9	EGLN1	C	127	S	C127S	Benign	0	1	5	2
MUT:EGLN1:Gln157His	PROT:Q9GZT9	EGLN1	Q	157	H	Q157H	Benign/Likely benign	0	1	5	17
MUT:EGLN1:His374Arg	PROT:Q9GZT9	EGLN1	H	374	R	H374R	Pathogenic	1	1	5	37
MUT:EHHADH:Arg295Trp	PROT:Q08426	EHHADH	R	295	W	R295W	Likely benign	0	1	19	3
MUT:EHHADH:Arg602Gln	PROT:Q08426	EHHADH	R	602	Q	R602Q	Benign/Likely benign	0	1	19	18
MUT:EHHADH:Arg64His	PROT:Q08426	EHHADH	R	64	H	R64H	Likely benign	0	1	19	37
MUT:EHHADH:Gln238Leu	PROT:Q08426	EHHADH	Q	238	L	Q238L	Benign/Likely benign	0	1	19	42
MUT:EHHADH:Ile203Ser	PROT:Q08426	EHHADH	I	203	S	I203S	Benign	0	2	19	8
MUT:EHHADH:Leu255Val	PROT:Q08426	EHHADH	L	255	V	L255V	Benign	0	2	19	25
MUT:EHHADH:Ser721Gly	PROT:Q08426	EHHADH	S	721	G	S721G	Likely benign	0	1	19	0
MUT:EHHADH:Thr283Ala	PROT:Q08426	EHHADH	T	283	A	T283A	Benign	0	7	19	3
MUT:EHHADH:Val297Phe	PROT:Q08426	EHHADH	V	297	F	V297F	Likely benign	0	1	19	1
MUT:EHMT1:Ala1015Ser	PROT:Q9H9B1	EHMT1	A	1015	S	A1015S	Benign	0	1	44	11
MUT:EHMT1:Ala1015Thr	PROT:Q9H9B1	EHMT1	A	1015	T	A1015T	Likely benign	0	1	44	11
MUT:EHMT1:Ala1028Thr	PROT:Q9H9B1	EHMT1	A	1028	T	A1028T	Likely benign	0	1	44	20
MUT:EHMT1:Ala103Val	PROT:Q9H9B1	EHMT1	A	103	V	A103V	Likely benign	0	1	44	26
MUT:EHMT1:Ala104Val	PROT:Q9H9B1	EHMT1	A	104	V	A104V	Benign/Likely benign	0	4	44	25
MUT:EHMT1:Ala1097Val	PROT:Q9H9B1	EHMT1	A	1097	V	A1097V	Likely benign	0	1	44	11
MUT:EHMT1:Ala111Val	PROT:Q9H9B1	EHMT1	A	111	V	A111V	Likely benign	0	1	44	18
MUT:EHMT1:Ala1126Val	PROT:Q9H9B1	EHMT1	A	1126	V	A1126V	Benign/Likely benign	0	1	44	40
MUT:EHMT1:Ala1165Gly	PROT:Q9H9B1	EHMT1	A	1165	G	A1165G	Likely benign	0	1	44	79
MUT:EHMT1:Ala1234Val	PROT:Q9H9B1	EHMT1	A	1234	V	A1234V	Likely benign	0	1	44	42
MUT:EHMT1:Ala1275Gly	PROT:Q9H9B1	EHMT1	A	1275	G	A1275G	Likely benign	0	1	44	1
MUT:EHMT1:Ala1292Thr	PROT:Q9H9B1	EHMT1	A	1292	T	A1292T	Benign	0	1	44	16
MUT:EHMT1:Ala1295Ser	PROT:Q9H9B1	EHMT1	A	1295	S	A1295S	Likely benign	0	1	44	19
MUT:EHMT1:Ala1295Thr	PROT:Q9H9B1	EHMT1	A	1295	T	A1295T	Likely benign	0	1	44	19
MUT:EHMT1:Ala152Thr	PROT:Q9H9B1	EHMT1	A	152	T	A152T	Likely benign	0	1	44	12
MUT:EHMT1:Ala167Thr	PROT:Q9H9B1	EHMT1	A	167	T	A167T	Benign/Likely benign	0	2	44	3
MUT:EHMT1:Ala174Ser	PROT:Q9H9B1	EHMT1	A	174	S	A174S	Benign/Likely benign	0	1	44	3
MUT:EHMT1:Ala174Thr	PROT:Q9H9B1	EHMT1	A	174	T	A174T	Likely benign	0	1	44	3
MUT:EHMT1:Ala193Gly	PROT:Q9H9B1	EHMT1	A	193	G	A193G	Benign	0	1	44	16
MUT:EHMT1:Ala196Thr	PROT:Q9H9B1	EHMT1	A	196	T	A196T	Benign/Likely benign	0	1	44	13
MUT:EHMT1:Ala227Asp	PROT:Q9H9B1	EHMT1	A	227	D	A227D	Likely benign	0	1	44	8
MUT:EHMT1:Ala227Thr	PROT:Q9H9B1	EHMT1	A	227	T	A227T	Benign	0	1	44	8
MUT:EHMT1:Ala275Thr	PROT:Q9H9B1	EHMT1	A	275	T	A275T	Benign	0	1	44	36
MUT:EHMT1:Ala334Thr	PROT:Q9H9B1	EHMT1	A	334	T	A334T	Likely benign	0	1	44	1
MUT:EHMT1:Ala33Ser	PROT:Q9H9B1	EHMT1	A	33	S	A33S	Likely benign	0	1	44	5
MUT:EHMT1:Ala34Ser	PROT:Q9H9B1	EHMT1	A	34	S	A34S	Likely benign	0	1	44	4
MUT:EHMT1:Ala364Thr	PROT:Q9H9B1	EHMT1	A	364	T	A364T	Benign	0	1	44	8
MUT:EHMT1:Ala367Val	PROT:Q9H9B1	EHMT1	A	367	V	A367V	Likely benign	0	1	44	5
MUT:EHMT1:Ala368Thr	PROT:Q9H9B1	EHMT1	A	368	T	A368T	Benign	0	1	44	4
MUT:EHMT1:Ala369Thr	PROT:Q9H9B1	EHMT1	A	369	T	A369T	Benign/Likely benign	0	1	44	3
MUT:EHMT1:Ala369Val	PROT:Q9H9B1	EHMT1	A	369	V	A369V	Likely benign	0	1	44	3
MUT:EHMT1:Ala388Thr	PROT:Q9H9B1	EHMT1	A	388	T	A388T	Benign	0	1	44	5
MUT:EHMT1:Ala43Gly	PROT:Q9H9B1	EHMT1	A	43	G	A43G	Benign	0	1	44	5
MUT:EHMT1:Ala43Pro	PROT:Q9H9B1	EHMT1	A	43	P	A43P	Benign	0	1	44	5
MUT:EHMT1:Ala43Val	PROT:Q9H9B1	EHMT1	A	43	V	A43V	Benign	0	1	44	5
MUT:EHMT1:Ala441Asp	PROT:Q9H9B1	EHMT1	A	441	D	A441D	Likely benign	0	1	44	2
MUT:EHMT1:Ala465Thr	PROT:Q9H9B1	EHMT1	A	465	T	A465T	Benign	0	1	44	5
MUT:EHMT1:Ala465Val	PROT:Q9H9B1	EHMT1	A	465	V	A465V	Benign/Likely benign	0	1	44	5
MUT:EHMT1:Ala468Thr	PROT:Q9H9B1	EHMT1	A	468	T	A468T	Benign/Likely benign	0	2	44	8
MUT:EHMT1:Ala472Thr	PROT:Q9H9B1	EHMT1	A	472	T	A472T	Likely benign	0	1	44	11
MUT:EHMT1:Ala499Val	PROT:Q9H9B1	EHMT1	A	499	V	A499V	Benign/Likely benign	0	1	44	2
MUT:EHMT1:Ala50Gly	PROT:Q9H9B1	EHMT1	A	50	G	A50G	Benign	0	1	44	12
MUT:EHMT1:Ala50Thr	PROT:Q9H9B1	EHMT1	A	50	T	A50T	Benign	0	1	44	12
MUT:EHMT1:Ala597Val	PROT:Q9H9B1	EHMT1	A	597	V	A597V	Likely benign	0	1	44	29
MUT:EHMT1:Ala624Ser	PROT:Q9H9B1	EHMT1	A	624	S	A624S	Likely benign	0	1	44	14
MUT:EHMT1:Ala624Thr	PROT:Q9H9B1	EHMT1	A	624	T	A624T	Likely benign	0	1	44	14
MUT:EHMT1:Ala675Leu	PROT:Q9H9B1	EHMT1	A	675	L	A675L	Likely benign	0	1	44	16
MUT:EHMT1:Ala6Val	PROT:Q9H9B1	EHMT1	A	6	V	A6V	Likely benign	0	1	44	32
MUT:EHMT1:Ala77Gly	PROT:Q9H9B1	EHMT1	A	77	G	A77G	Likely benign	0	1	44	39
MUT:EHMT1:Ala77Thr	PROT:Q9H9B1	EHMT1	A	77	T	A77T	Benign/Likely benign	0	1	44	39
MUT:EHMT1:Ala846Asp	PROT:Q9H9B1	EHMT1	A	846	D	A846D	Pathogenic	1	1	44	19
MUT:EHMT1:Ala927Ser	PROT:Q9H9B1	EHMT1	A	927	S	A927S	Likely benign	0	1	44	32
MUT:EHMT1:Ala927Thr	PROT:Q9H9B1	EHMT1	A	927	T	A927T	Likely benign	0	1	44	32
MUT:EHMT1:Ala934Thr	PROT:Q9H9B1	EHMT1	A	934	T	A934T	Likely benign	0	1	44	34
MUT:EHMT1:Ala979Val	PROT:Q9H9B1	EHMT1	A	979	V	A979V	Likely benign	0	1	44	11
MUT:EHMT1:Ala988Thr	PROT:Q9H9B1	EHMT1	A	988	T	A988T	Likely benign	0	2	44	16
MUT:EHMT1:Ala994Ser	PROT:Q9H9B1	EHMT1	A	994	S	A994S	Likely benign	0	1	44	10
MUT:EHMT1:Ala999Val	PROT:Q9H9B1	EHMT1	A	999	V	A999V	Likely benign	0	1	44	5
MUT:EHMT1:Arg1016Gln	PROT:Q9H9B1	EHMT1	R	1016	Q	R1016Q	Likely benign	0	1	44	12
MUT:EHMT1:Arg1020His	PROT:Q9H9B1	EHMT1	R	1020	H	R1020H	Likely benign	0	1	44	16
MUT:EHMT1:Arg1020Leu	PROT:Q9H9B1	EHMT1	R	1020	L	R1020L	Benign	0	1	44	16
MUT:EHMT1:Arg1113Ser	PROT:Q9H9B1	EHMT1	R	1113	S	R1113S	Likely benign	0	1	44	27
MUT:EHMT1:Arg1116Gln	PROT:Q9H9B1	EHMT1	R	1116	Q	R1116Q	Likely benign	0	1	44	30
MUT:EHMT1:Arg1132Gln	PROT:Q9H9B1	EHMT1	R	1132	Q	R1132Q	Likely benign	0	1	44	46
MUT:EHMT1:Arg1134Trp	PROT:Q9H9B1	EHMT1	R	1134	W	R1134W	Benign/Likely benign	0	1	44	48
MUT:EHMT1:Arg1141Trp	PROT:Q9H9B1	EHMT1	R	1141	W	R1141W	Likely benign	0	1	44	55
MUT:EHMT1:Arg1197Trp	PROT:Q9H9B1	EHMT1	R	1197	W	R1197W	Pathogenic/Likely pathogenic	1	1	44	79
MUT:EHMT1:Arg1223Trp	PROT:Q9H9B1	EHMT1	R	1223	W	R1223W	Likely benign	0	1	44	53
MUT:EHMT1:Arg1230Cys	PROT:Q9H9B1	EHMT1	R	1230	C	R1230C	Likely benign	0	1	44	46
MUT:EHMT1:Arg1230Ser	PROT:Q9H9B1	EHMT1	R	1230	S	R1230S	Likely benign	0	1	44	46
MUT:EHMT1:Arg1264Gln	PROT:Q9H9B1	EHMT1	R	1264	Q	R1264Q	Likely benign	0	1	44	12
MUT:EHMT1:Arg12Lys	PROT:Q9H9B1	EHMT1	R	12	K	R12K	Benign/Likely benign	0	1	44	26
MUT:EHMT1:Arg12Met	PROT:Q9H9B1	EHMT1	R	12	M	R12M	Benign	0	1	44	26
MUT:EHMT1:Arg189Ser	PROT:Q9H9B1	EHMT1	R	189	S	R189S	Likely benign	0	1	44	18
MUT:EHMT1:Arg204Cys	PROT:Q9H9B1	EHMT1	R	204	C	R204C	Likely benign	0	1	44	5
MUT:EHMT1:Arg246Gln	PROT:Q9H9B1	EHMT1	R	246	Q	R246Q	Benign/Likely benign	0	1	44	7
MUT:EHMT1:Arg287Gln	PROT:Q9H9B1	EHMT1	R	287	Q	R287Q	Likely benign	0	1	44	40
MUT:EHMT1:Arg429Thr	PROT:Q9H9B1	EHMT1	R	429	T	R429T	Likely benign	0	1	44	4
MUT:EHMT1:Arg446Gln	PROT:Q9H9B1	EHMT1	R	446	Q	R446Q	Likely benign	0	1	44	2
MUT:EHMT1:Arg446Trp	PROT:Q9H9B1	EHMT1	R	446	W	R446W	Likely benign	0	1	44	2
MUT:EHMT1:Arg490Gln	PROT:Q9H9B1	EHMT1	R	490	Q	R490Q	Benign	0	1	44	7
MUT:EHMT1:Arg490Gly	PROT:Q9H9B1	EHMT1	R	490	G	R490G	Benign	0	1	44	7
MUT:EHMT1:Arg523Trp	PROT:Q9H9B1	EHMT1	R	523	W	R523W	Likely benign	0	1	44	26
MUT:EHMT1:Arg552Gln	PROT:Q9H9B1	EHMT1	R	552	Q	R552Q	Likely benign	0	1	44	4
MUT:EHMT1:Arg564His	PROT:Q9H9B1	EHMT1	R	564	H	R564H	Benign	0	1	44	4
MUT:EHMT1:Arg579Gln	PROT:Q9H9B1	EHMT1	R	579	Q	R579Q	Likely benign	0	1	44	11
MUT:EHMT1:Arg579Trp	PROT:Q9H9B1	EHMT1	R	579	W	R579W	Likely benign	0	1	44	11
MUT:EHMT1:Arg581Cys	PROT:Q9H9B1	EHMT1	R	581	C	R581C	Likely benign	0	1	44	13
MUT:EHMT1:Arg620Gln	PROT:Q9H9B1	EHMT1	R	620	Q	R620Q	Likely benign	0	1	44	18
MUT:EHMT1:Arg78Met	PROT:Q9H9B1	EHMT1	R	78	M	R78M	Likely benign	0	1	44	40
MUT:EHMT1:Arg78Ser	PROT:Q9H9B1	EHMT1	R	78	S	R78S	Benign	0	1	44	40
MUT:EHMT1:Arg90Gln	PROT:Q9H9B1	EHMT1	R	90	Q	R90Q	Likely benign	0	1	44	39
MUT:EHMT1:Arg90Pro	PROT:Q9H9B1	EHMT1	R	90	P	R90P	Likely benign	0	1	44	39
MUT:EHMT1:Arg951Cys	PROT:Q9H9B1	EHMT1	R	951	C	R951C	Likely benign	0	1	44	17
MUT:EHMT1:Arg99Gly	PROT:Q9H9B1	EHMT1	R	99	G	R99G	Likely benign	0	1	44	30
MUT:EHMT1:Asn1106Asp	PROT:Q9H9B1	EHMT1	N	1106	D	N1106D	Likely benign	0	1	44	20
MUT:EHMT1:Asn1194Ile	PROT:Q9H9B1	EHMT1	N	1194	I	N1194I	Pathogenic	1	1	44	82
MUT:EHMT1:Asn504Asp	PROT:Q9H9B1	EHMT1	N	504	D	N504D	Likely benign	0	1	44	7
MUT:EHMT1:Asn538Lys	PROT:Q9H9B1	EHMT1	N	538	K	N538K	Likely benign	0	1	44	18
MUT:EHMT1:Asn538Ser	PROT:Q9H9B1	EHMT1	N	538	S	N538S	Benign	0	1	44	18
MUT:EHMT1:Asn555Ser	PROT:Q9H9B1	EHMT1	N	555	S	N555S	Likely benign	0	1	44	1
MUT:EHMT1:Asn55Ile	PROT:Q9H9B1	EHMT1	N	55	I	N55I	Likely benign	0	1	44	17
MUT:EHMT1:Asn60Lys	PROT:Q9H9B1	EHMT1	N	60	K	N60K	Benign	0	1	44	22
MUT:EHMT1:Asn68His	PROT:Q9H9B1	EHMT1	N	68	H	N68H	Likely benign	0	1	44	30
MUT:EHMT1:Asn80Ser	PROT:Q9H9B1	EHMT1	N	80	S	N80S	Likely benign	0	1	44	42
MUT:EHMT1:Asn86Lys	PROT:Q9H9B1	EHMT1	N	86	K	N86K	Likely benign	0	1	44	43
MUT:EHMT1:Asn982Ser	PROT:Q9H9B1	EHMT1	N	982	S	N982S	Benign/Likely benign	0	1	44	14
MUT:EHMT1:Asp1001Asn	PROT:Q9H9B1	EHMT1	D	1001	N	D1001N	Likely benign	0	1	44	3
MUT:EHMT1:Asp1053Asn	PROT:Q9H9B1	EHMT1	D	1053	N	D1053N	Likely benign	0	1	44	5
MUT:EHMT1:Asp1066Asn	PROT:Q9H9B1	EHMT1	D	1066	N	D1066N	Benign	0	1	44	18
MUT:EHMT1:Asp1067Asn	PROT:Q9H9B1	EHMT1	D	1067	N	D1067N	Benign	0	1	44	19
MUT:EHMT1:Asp1085Asn	PROT:Q9H9B1	EHMT1	D	1085	N	D1085N	Likely benign	0	1	44	1
MUT:EHMT1:Asp112Glu	PROT:Q9H9B1	EHMT1	D	112	E	D112E	Benign	0	1	44	17
MUT:EHMT1:Asp112Val	PROT:Q9H9B1	EHMT1	D	112	V	D112V	Likely benign	0	1	44	17
MUT:EHMT1:Asp113Asn	PROT:Q9H9B1	EHMT1	D	113	N	D113N	Benign	0	1	44	16
MUT:EHMT1:Asp1162Asn	PROT:Q9H9B1	EHMT1	D	1162	N	D1162N	Benign	0	1	44	76
MUT:EHMT1:Asp1166Asn	PROT:Q9H9B1	EHMT1	D	1166	N	D1166N	Likely benign	0	1	44	80
MUT:EHMT1:Asp1248His	PROT:Q9H9B1	EHMT1	D	1248	H	D1248H	Likely benign	0	1	44	28
MUT:EHMT1:Asp1296Asn	PROT:Q9H9B1	EHMT1	D	1296	N	D1296N	Likely benign	0	1	44	20
MUT:EHMT1:Asp220Glu	PROT:Q9H9B1	EHMT1	D	220	E	D220E	Likely benign	0	1	44	1
MUT:EHMT1:Asp351Glu	PROT:Q9H9B1	EHMT1	D	351	E	D351E	Benign	0	1	44	2
MUT:EHMT1:Asp35Gly	PROT:Q9H9B1	EHMT1	D	35	G	D35G	Likely benign	0	1	44	3
MUT:EHMT1:Asp35Tyr	PROT:Q9H9B1	EHMT1	D	35	Y	D35Y	Likely benign	0	1	44	3
MUT:EHMT1:Asp475Asn	PROT:Q9H9B1	EHMT1	D	475	N	D475N	Likely benign	0	1	44	8
MUT:EHMT1:Asp51Gly	PROT:Q9H9B1	EHMT1	D	51	G	D51G	Likely benign	0	1	44	13
MUT:EHMT1:Asp51Val	PROT:Q9H9B1	EHMT1	D	51	V	D51V	Likely benign	0	1	44	13
MUT:EHMT1:Asp5Tyr	PROT:Q9H9B1	EHMT1	D	5	Y	D5Y	Benign	0	1	44	33
MUT:EHMT1:Asp616Glu	PROT:Q9H9B1	EHMT1	D	616	E	D616E	Likely benign	0	1	44	22
MUT:EHMT1:Asp62Asn	PROT:Q9H9B1	EHMT1	D	62	N	D62N	Benign/Likely benign	0	1	44	24
MUT:EHMT1:Asp683Asn	PROT:Q9H9B1	EHMT1	D	683	N	D683N	Likely benign	0	1	44	24
MUT:EHMT1:Asp728Asn	PROT:Q9H9B1	EHMT1	D	728	N	D728N	Likely benign	0	1	44	1
MUT:EHMT1:Asp75Gly	PROT:Q9H9B1	EHMT1	D	75	G	D75G	Likely benign	0	1	44	37
MUT:EHMT1:Asp75His	PROT:Q9H9B1	EHMT1	D	75	H	D75H	Benign/Likely benign	0	1	44	37
MUT:EHMT1:Asp931Ala	PROT:Q9H9B1	EHMT1	D	931	A	D931A	Benign	0	1	44	36
MUT:EHMT1:Asp953Asn	PROT:Q9H9B1	EHMT1	D	953	N	D953N	Benign	0	1	44	15
MUT:EHMT1:Cys1062Gly	PROT:Q9H9B1	EHMT1	C	1062	G	C1062G	Pathogenic	1	1	44	14
MUT:EHMT1:Cys1068Ser	PROT:Q9H9B1	EHMT1	C	1068	S	C1068S	Pathogenic	1	1	44	18
MUT:EHMT1:Cys1073Tyr	PROT:Q9H9B1	EHMT1	C	1073	Y	C1073Y	Pathogenic	1	1	44	13
MUT:EHMT1:Cys1105Arg	PROT:Q9H9B1	EHMT1	C	1105	R	C1105R	Likely pathogenic	1	1	44	19
MUT:EHMT1:Cys1111Ser	PROT:Q9H9B1	EHMT1	C	1111	S	C1111S	Pathogenic	1	1	44	25
MUT:EHMT1:Cys1111Trp	PROT:Q9H9B1	EHMT1	C	1111	W	C1111W	Likely pathogenic	1	1	44	25
MUT:EHMT1:Cys1115Gly	PROT:Q9H9B1	EHMT1	C	1115	G	C1115G	Likely pathogenic	1	1	44	29
MUT:EHMT1:Cys265Gly	PROT:Q9H9B1	EHMT1	C	265	G	C265G	Benign	0	1	44	26
MUT:EHMT1:Cys842Tyr	PROT:Q9H9B1	EHMT1	C	842	Y	C842Y	Likely pathogenic	1	1	44	15
MUT:EHMT1:Cys909Arg	PROT:Q9H9B1	EHMT1	C	909	R	C909R	Pathogenic	1	1	44	14
MUT:EHMT1:Gln106Glu	PROT:Q9H9B1	EHMT1	Q	106	E	Q106E	Benign/Likely benign	0	2	44	23
MUT:EHMT1:Gln116Arg	PROT:Q9H9B1	EHMT1	Q	116	R	Q116R	Likely pathogenic	1	1	44	13
MUT:EHMT1:Gln133Glu	PROT:Q9H9B1	EHMT1	Q	133	E	Q133E	Likely benign	0	1	44	4
MUT:EHMT1:Gln17Lys	PROT:Q9H9B1	EHMT1	Q	17	K	Q17K	Likely benign	0	1	44	21
MUT:EHMT1:Gln309Glu	PROT:Q9H9B1	EHMT1	Q	309	E	Q309E	Likely benign	0	1	44	18
MUT:EHMT1:Gln389Arg	PROT:Q9H9B1	EHMT1	Q	389	R	Q389R	Benign	0	1	44	6
MUT:EHMT1:Gln399Arg	PROT:Q9H9B1	EHMT1	Q	399	R	Q399R	Benign	0	1	44	4
MUT:EHMT1:Gln42Glu	PROT:Q9H9B1	EHMT1	Q	42	E	Q42E	Likely benign	0	1	44	4
MUT:EHMT1:Gln470His	PROT:Q9H9B1	EHMT1	Q	470	H	Q470H	Likely benign	0	1	44	10
MUT:EHMT1:Gln515Pro	PROT:Q9H9B1	EHMT1	Q	515	P	Q515P	Benign	0	1	44	18
MUT:EHMT1:Gln74Glu	PROT:Q9H9B1	EHMT1	Q	74	E	Q74E	Benign/Likely benign	0	1	44	36
MUT:EHMT1:Gln990His	PROT:Q9H9B1	EHMT1	Q	990	H	Q990H	Benign/Likely benign	0	2	44	14
MUT:EHMT1:Glu102Val	PROT:Q9H9B1	EHMT1	E	102	V	E102V	Likely benign	0	1	44	27
MUT:EHMT1:Glu1104Lys	PROT:Q9H9B1	EHMT1	E	1104	K	E1104K	Pathogenic/Likely pathogenic	1	1	44	18
MUT:EHMT1:Glu1204Val	PROT:Q9H9B1	EHMT1	E	1204	V	E1204V	Likely benign	0	1	44	72
MUT:EHMT1:Glu1244Asp	PROT:Q9H9B1	EHMT1	E	1244	D	E1244D	Likely benign	0	1	44	32
MUT:EHMT1:Glu14Asp	PROT:Q9H9B1	EHMT1	E	14	D	E14D	Benign/Likely benign	0	1	44	24
MUT:EHMT1:Glu14Gln	PROT:Q9H9B1	EHMT1	E	14	Q	E14Q	Likely benign	0	1	44	24
MUT:EHMT1:Glu14Lys	PROT:Q9H9B1	EHMT1	E	14	K	E14K	Likely benign	0	1	44	24
MUT:EHMT1:Glu181Gln	PROT:Q9H9B1	EHMT1	E	181	Q	E181Q	Likely benign	0	1	44	10
MUT:EHMT1:Glu329Gln	PROT:Q9H9B1	EHMT1	E	329	Q	E329Q	Likely benign	0	1	44	2
MUT:EHMT1:Glu355Asp	PROT:Q9H9B1	EHMT1	E	355	D	E355D	Benign	0	1	44	2
MUT:EHMT1:Glu36Asp	PROT:Q9H9B1	EHMT1	E	36	D	E36D	Benign	0	1	44	2
MUT:EHMT1:Glu36Val	PROT:Q9H9B1	EHMT1	E	36	V	E36V	Likely benign	0	1	44	2
MUT:EHMT1:Glu45Gly	PROT:Q9H9B1	EHMT1	E	45	G	E45G	Likely benign	0	1	44	7
MUT:EHMT1:Glu516Lys	PROT:Q9H9B1	EHMT1	E	516	K	E516K	Likely benign	0	1	44	19
MUT:EHMT1:Glu53Asp	PROT:Q9H9B1	EHMT1	E	53	D	E53D	Likely benign	0	1	44	15
MUT:EHMT1:Glu59Gly	PROT:Q9H9B1	EHMT1	E	59	G	E59G	Benign	0	1	44	21
MUT:EHMT1:Glu853Gln	PROT:Q9H9B1	EHMT1	E	853	Q	E853Q	Likely benign	0	1	44	26
MUT:EHMT1:Glu853Lys	PROT:Q9H9B1	EHMT1	E	853	K	E853K	Benign	0	1	44	26
MUT:EHMT1:Glu923Lys	PROT:Q9H9B1	EHMT1	E	923	K	E923K	Benign/Likely benign	0	1	44	28
MUT:EHMT1:Gly1076Ser	PROT:Q9H9B1	EHMT1	G	1076	S	G1076S	Benign/Likely benign	0	1	44	10
MUT:EHMT1:Gly121Ser	PROT:Q9H9B1	EHMT1	G	121	S	G121S	Likely benign	0	1	44	8
MUT:EHMT1:Gly124Arg	PROT:Q9H9B1	EHMT1	G	124	R	G124R	Likely benign	0	1	44	5
MUT:EHMT1:Gly1285Asp	PROT:Q9H9B1	EHMT1	G	1285	D	G1285D	Likely benign	0	1	44	9
MUT:EHMT1:Gly328Arg	PROT:Q9H9B1	EHMT1	G	328	R	G328R	Likely benign	0	1	44	1
MUT:EHMT1:Gly333Asp	PROT:Q9H9B1	EHMT1	G	333	D	G333D	Benign	0	1	44	2
MUT:EHMT1:Gly393Arg	PROT:Q9H9B1	EHMT1	G	393	R	G393R	Likely benign	0	1	44	2
MUT:EHMT1:Gly454Ser	PROT:Q9H9B1	EHMT1	G	454	S	G454S	Benign/Likely benign	0	2	44	6
MUT:EHMT1:Gly457Ser	PROT:Q9H9B1	EHMT1	G	457	S	G457S	Likely benign	0	1	44	3
MUT:EHMT1:Gly505Ser	PROT:Q9H9B1	EHMT1	G	505	S	G505S	Benign	0	1	44	8
MUT:EHMT1:Gly52Ser	PROT:Q9H9B1	EHMT1	G	52	S	G52S	Likely benign	0	1	44	14
MUT:EHMT1:Gly551Val	PROT:Q9H9B1	EHMT1	G	551	V	G551V	Benign	0	1	44	5
MUT:EHMT1:Gly656Arg	PROT:Q9H9B1	EHMT1	G	656	R	G656R	Likely benign	0	1	44	3
MUT:EHMT1:Gly714Ala	PROT:Q9H9B1	EHMT1	G	714	A	G714A	Likely benign	0	1	44	6
MUT:EHMT1:Gly784Arg	PROT:Q9H9B1	EHMT1	G	784	R	G784R	Pathogenic	1	1	44	39
MUT:EHMT1:Gly839Val	PROT:Q9H9B1	EHMT1	G	839	V	G839V	Likely pathogenic	1	1	44	12
MUT:EHMT1:Gly84Asp	PROT:Q9H9B1	EHMT1	G	84	D	G84D	Benign	0	1	44	45
MUT:EHMT1:Gly873Val	PROT:Q9H9B1	EHMT1	G	873	V	G873V	Pathogenic/Likely pathogenic	1	1	44	17
MUT:EHMT1:Gly917Ser	PROT:Q9H9B1	EHMT1	G	917	S	G917S	Likely benign	0	1	44	22
MUT:EHMT1:His1202Tyr	PROT:Q9H9B1	EHMT1	H	1202	Y	H1202Y	Likely benign	0	1	44	74
MUT:EHMT1:His201Tyr	PROT:Q9H9B1	EHMT1	H	201	Y	H201Y	Likely benign	0	1	44	8
MUT:EHMT1:His230Arg	PROT:Q9H9B1	EHMT1	H	230	R	H230R	Benign	0	1	44	9
MUT:EHMT1:His257Arg	PROT:Q9H9B1	EHMT1	H	257	R	H257R	Likely benign	0	1	44	18
MUT:EHMT1:His257Pro	PROT:Q9H9B1	EHMT1	H	257	P	H257P	Benign/Likely benign	0	2	44	18
MUT:EHMT1:His362Arg	PROT:Q9H9B1	EHMT1	H	362	R	H362R	Likely benign	0	1	44	9
MUT:EHMT1:His47Gln	PROT:Q9H9B1	EHMT1	H	47	Q	H47Q	Benign/Likely benign	0	1	44	9
MUT:EHMT1:His691Gln	PROT:Q9H9B1	EHMT1	H	691	Q	H691Q	Likely benign	0	1	44	17
MUT:EHMT1:His72Arg	PROT:Q9H9B1	EHMT1	H	72	R	H72R	Benign	0	1	44	34
MUT:EHMT1:His778Pro	PROT:Q9H9B1	EHMT1	H	778	P	H778P	Pathogenic/Likely pathogenic	1	1	44	38
MUT:EHMT1:His844Tyr	PROT:Q9H9B1	EHMT1	H	844	Y	H844Y	Pathogenic	1	1	44	17
MUT:EHMT1:His911Arg	PROT:Q9H9B1	EHMT1	H	911	R	H911R	Pathogenic	1	1	44	16
MUT:EHMT1:His944Tyr	PROT:Q9H9B1	EHMT1	H	944	Y	H944Y	Pathogenic	1	1	44	24
MUT:EHMT1:Ile1065Val	PROT:Q9H9B1	EHMT1	I	1065	V	I1065V	Benign/Likely benign	0	1	44	17
MUT:EHMT1:Ile1102Thr	PROT:Q9H9B1	EHMT1	I	1102	T	I1102T	Likely benign	0	1	44	16
MUT:EHMT1:Ile1224Leu	PROT:Q9H9B1	EHMT1	I	1224	L	I1224L	Likely benign	0	1	44	52
MUT:EHMT1:Ile494Asn	PROT:Q9H9B1	EHMT1	I	494	N	I494N	Likely benign	0	1	44	3
MUT:EHMT1:Ile799Thr	PROT:Q9H9B1	EHMT1	I	799	T	I799T	Likely benign	0	1	44	24
MUT:EHMT1:Ile945Thr	PROT:Q9H9B1	EHMT1	I	945	T	I945T	Likely benign	0	1	44	23
MUT:EHMT1:Leu1059Val	PROT:Q9H9B1	EHMT1	L	1059	V	L1059V	Likely benign	0	1	44	11
MUT:EHMT1:Leu1177Phe	PROT:Q9H9B1	EHMT1	L	1177	F	L1177F	Likely benign	0	1	44	91
MUT:EHMT1:Leu1253Pro	PROT:Q9H9B1	EHMT1	L	1253	P	L1253P	Likely benign	0	1	44	23
MUT:EHMT1:Leu127Ser	PROT:Q9H9B1	EHMT1	L	127	S	L127S	Likely benign	0	1	44	2
MUT:EHMT1:Leu1298Val	PROT:Q9H9B1	EHMT1	L	1298	V	L1298V	Benign	0	1	44	22
MUT:EHMT1:Leu147Val	PROT:Q9H9B1	EHMT1	L	147	V	L147V	Likely benign	0	1	44	17
MUT:EHMT1:Leu250Phe	PROT:Q9H9B1	EHMT1	L	250	F	L250F	Benign	0	1	44	11
MUT:EHMT1:Leu456Phe	PROT:Q9H9B1	EHMT1	L	456	F	L456F	Benign	0	1	44	4
MUT:EHMT1:Leu509Val	PROT:Q9H9B1	EHMT1	L	509	V	L509V	Benign	0	1	44	12
MUT:EHMT1:Leu514Phe	PROT:Q9H9B1	EHMT1	L	514	F	L514F	Likely benign	0	1	44	17
MUT:EHMT1:Leu514Val	PROT:Q9H9B1	EHMT1	L	514	V	L514V	Likely benign	0	1	44	17
MUT:EHMT1:Leu535Arg	PROT:Q9H9B1	EHMT1	L	535	R	L535R	Likely benign	0	1	44	21
MUT:EHMT1:Leu679Pro	PROT:Q9H9B1	EHMT1	L	679	P	L679P	Likely benign	0	1	44	20
MUT:EHMT1:Leu679Val	PROT:Q9H9B1	EHMT1	L	679	V	L679V	Likely benign	0	1	44	20
MUT:EHMT1:Leu711Phe	PROT:Q9H9B1	EHMT1	L	711	F	L711F	Likely benign	0	1	44	3
MUT:EHMT1:Leu755Arg	PROT:Q9H9B1	EHMT1	L	755	R	L755R	Pathogenic	1	1	44	15
MUT:EHMT1:Leu758Pro	PROT:Q9H9B1	EHMT1	L	758	P	L758P	Pathogenic	1	1	44	18
MUT:EHMT1:Leu845Val	PROT:Q9H9B1	EHMT1	L	845	V	L845V	Likely benign	0	1	44	18
MUT:EHMT1:Leu892Arg	PROT:Q9H9B1	EHMT1	L	892	R	L892R	Pathogenic	1	1	44	2
MUT:EHMT1:Leu892Pro	PROT:Q9H9B1	EHMT1	L	892	P	L892P	Likely pathogenic	1	1	44	2
MUT:EHMT1:Leu932Pro	PROT:Q9H9B1	EHMT1	L	932	P	L932P	Benign	0	1	44	36
MUT:EHMT1:Leu976Pro	PROT:Q9H9B1	EHMT1	L	976	P	L976P	Likely benign	0	1	44	8
MUT:EHMT1:Lys161Asn	PROT:Q9H9B1	EHMT1	K	161	N	K161N	Likely benign	0	1	44	3
MUT:EHMT1:Lys161Thr	PROT:Q9H9B1	EHMT1	K	161	T	K161T	Likely benign	0	1	44	3
MUT:EHMT1:Lys199Arg	PROT:Q9H9B1	EHMT1	K	199	R	K199R	Benign	0	1	44	10
MUT:EHMT1:Lys199Glu	PROT:Q9H9B1	EHMT1	K	199	E	K199E	Likely benign	0	1	44	10
MUT:EHMT1:Lys41Asn	PROT:Q9H9B1	EHMT1	K	41	N	K41N	Benign	0	1	44	3
MUT:EHMT1:Lys424Arg	PROT:Q9H9B1	EHMT1	K	424	R	K424R	Benign	0	1	44	9
MUT:EHMT1:Lys425Thr	PROT:Q9H9B1	EHMT1	K	425	T	K425T	Likely benign	0	1	44	8
MUT:EHMT1:Lys428Arg	PROT:Q9H9B1	EHMT1	K	428	R	K428R	Benign	0	1	44	5
MUT:EHMT1:Lys528Arg	PROT:Q9H9B1	EHMT1	K	528	R	K528R	Benign	0	1	44	28
MUT:EHMT1:Lys717Glu	PROT:Q9H9B1	EHMT1	K	717	E	K717E	Likely benign	0	1	44	9
MUT:EHMT1:Lys753Glu	PROT:Q9H9B1	EHMT1	K	753	E	K753E	Likely benign	0	1	44	13
MUT:EHMT1:Lys895Glu	PROT:Q9H9B1	EHMT1	K	895	E	K895E	Likely benign	0	1	44	0
MUT:EHMT1:Met1080Val	PROT:Q9H9B1	EHMT1	M	1080	V	M1080V	Likely benign	0	1	44	6
MUT:EHMT1:Met1Val	PROT:Q9H9B1	EHMT1	M	1	V	M1V	Likely benign	0	1	44	37
MUT:EHMT1:Met207Val	PROT:Q9H9B1	EHMT1	M	207	V	M207V	Benign	0	1	44	2
MUT:EHMT1:Met267Leu	PROT:Q9H9B1	EHMT1	M	267	L	M267L	Benign	0	2	44	28
MUT:EHMT1:Met315Ile	PROT:Q9H9B1	EHMT1	M	315	I	M315I	Benign	0	1	44	12
MUT:EHMT1:Met346Leu	PROT:Q9H9B1	EHMT1	M	346	L	M346L	Benign	0	1	44	2
MUT:EHMT1:Met382Val	PROT:Q9H9B1	EHMT1	M	382	V	M382V	Likely benign	0	1	44	1
MUT:EHMT1:Met480Val	PROT:Q9H9B1	EHMT1	M	480	V	M480V	Likely benign	0	1	44	3
MUT:EHMT1:Met48Val	PROT:Q9H9B1	EHMT1	M	48	V	M48V	Benign/Likely benign	0	1	44	10
MUT:EHMT1:Met864Ile	PROT:Q9H9B1	EHMT1	M	864	I	M864I	Benign	0	1	44	26
MUT:EHMT1:Phe1240Tyr	PROT:Q9H9B1	EHMT1	F	1240	Y	F1240Y	Likely benign	0	1	44	36
MUT:EHMT1:Pro1022Ser	PROT:Q9H9B1	EHMT1	P	1022	S	P1022S	Likely benign	0	1	44	18
MUT:EHMT1:Pro1092Ser	PROT:Q9H9B1	EHMT1	P	1092	S	P1092S	Likely benign	0	1	44	6
MUT:EHMT1:Pro1099Ala	PROT:Q9H9B1	EHMT1	P	1099	A	P1099A	Likely benign	0	1	44	13
MUT:EHMT1:Pro1100Ser	PROT:Q9H9B1	EHMT1	P	1100	S	P1100S	Likely benign	0	1	44	14
MUT:EHMT1:Pro1205Ser	PROT:Q9H9B1	EHMT1	P	1205	S	P1205S	Benign	0	1	44	71
MUT:EHMT1:Pro1261Arg	PROT:Q9H9B1	EHMT1	P	1261	R	P1261R	Likely benign	0	1	44	15
MUT:EHMT1:Pro130Leu	PROT:Q9H9B1	EHMT1	P	130	L	P130L	Likely benign	0	1	44	1
MUT:EHMT1:Pro156Ala	PROT:Q9H9B1	EHMT1	P	156	A	P156A	Likely benign	0	2	44	8
MUT:EHMT1:Pro156Ser	PROT:Q9H9B1	EHMT1	P	156	S	P156S	Likely benign	0	1	44	8
MUT:EHMT1:Pro172Ser	PROT:Q9H9B1	EHMT1	P	172	S	P172S	Likely benign	0	1	44	1
MUT:EHMT1:Pro176Ser	PROT:Q9H9B1	EHMT1	P	176	S	P176S	Benign/Likely benign	0	1	44	5
MUT:EHMT1:Pro176Thr	PROT:Q9H9B1	EHMT1	P	176	T	P176T	Likely benign	0	1	44	5
MUT:EHMT1:Pro194Leu	PROT:Q9H9B1	EHMT1	P	194	L	P194L	Benign/Likely benign	0	1	44	15
MUT:EHMT1:Pro251Thr	PROT:Q9H9B1	EHMT1	P	251	T	P251T	Likely benign	0	1	44	12
MUT:EHMT1:Pro31Ala	PROT:Q9H9B1	EHMT1	P	31	A	P31A	Benign	0	1	44	7
MUT:EHMT1:Pro31Arg	PROT:Q9H9B1	EHMT1	P	31	R	P31R	Likely benign	0	1	44	7
MUT:EHMT1:Pro518Arg	PROT:Q9H9B1	EHMT1	P	518	R	P518R	Likely benign	0	1	44	21
MUT:EHMT1:Pro527Leu	PROT:Q9H9B1	EHMT1	P	527	L	P527L	Likely benign	0	1	44	29
MUT:EHMT1:Pro693Ser	PROT:Q9H9B1	EHMT1	P	693	S	P693S	Likely benign	0	1	44	15
MUT:EHMT1:Pro698Leu	PROT:Q9H9B1	EHMT1	P	698	L	P698L	Benign	0	1	44	10
MUT:EHMT1:Pro701Leu	PROT:Q9H9B1	EHMT1	P	701	L	P701L	Benign	0	1	44	7
MUT:EHMT1:Pro709Ala	PROT:Q9H9B1	EHMT1	P	709	A	P709A	Likely benign	0	1	44	1
MUT:EHMT1:Pro715Ala	PROT:Q9H9B1	EHMT1	P	715	A	P715A	Likely benign	0	1	44	7
MUT:EHMT1:Pro809Arg	PROT:Q9H9B1	EHMT1	P	809	R	P809R	Likely pathogenic	1	1	44	14
MUT:EHMT1:Pro809Leu	PROT:Q9H9B1	EHMT1	P	809	L	P809L	Pathogenic/Likely pathogenic	1	1	44	14
MUT:EHMT1:Pro81Ser	PROT:Q9H9B1	EHMT1	P	81	S	P81S	Likely benign	0	1	44	43
MUT:EHMT1:Ser1004Asn	PROT:Q9H9B1	EHMT1	S	1004	N	S1004N	Benign/Likely benign	0	2	44	0
MUT:EHMT1:Ser1004Ile	PROT:Q9H9B1	EHMT1	S	1004	I	S1004I	Benign	0	1	44	0
MUT:EHMT1:Ser1036Ile	PROT:Q9H9B1	EHMT1	S	1036	I	S1036I	Benign	0	1	44	12
MUT:EHMT1:Ser1069Phe	PROT:Q9H9B1	EHMT1	S	1069	F	S1069F	Benign	0	1	44	17
MUT:EHMT1:Ser1163Leu	PROT:Q9H9B1	EHMT1	S	1163	L	S1163L	Likely benign	0	1	44	77
MUT:EHMT1:Ser1267Arg	PROT:Q9H9B1	EHMT1	S	1267	R	S1267R	Likely benign	0	1	44	9
MUT:EHMT1:Ser1276Arg	PROT:Q9H9B1	EHMT1	S	1276	R	S1276R	Likely benign	0	1	44	0
MUT:EHMT1:Ser141Asn	PROT:Q9H9B1	EHMT1	S	141	N	S141N	Benign	0	1	44	12
MUT:EHMT1:Ser166Arg	PROT:Q9H9B1	EHMT1	S	166	R	S166R	Benign	0	1	44	2
MUT:EHMT1:Ser210Cys	PROT:Q9H9B1	EHMT1	S	210	C	S210C	Benign	0	1	44	1
MUT:EHMT1:Ser348Leu	PROT:Q9H9B1	EHMT1	S	348	L	S348L	Likely benign	0	1	44	0
MUT:EHMT1:Ser375Arg	PROT:Q9H9B1	EHMT1	S	375	R	S375R	Benign	0	1	44	0
MUT:EHMT1:Ser378Phe	PROT:Q9H9B1	EHMT1	S	378	F	S378F	Likely benign	0	1	44	3
MUT:EHMT1:Ser418Trp	PROT:Q9H9B1	EHMT1	S	418	W	S418W	Likely benign	0	1	44	15
MUT:EHMT1:Ser435Gly	PROT:Q9H9B1	EHMT1	S	435	G	S435G	Likely benign	0	1	44	0
MUT:EHMT1:Ser448Arg	PROT:Q9H9B1	EHMT1	S	448	R	S448R	Likely benign	0	1	44	0
MUT:EHMT1:Ser458Pro	PROT:Q9H9B1	EHMT1	S	458	P	S458P	Benign	0	1	44	2
MUT:EHMT1:Ser460Leu	PROT:Q9H9B1	EHMT1	S	460	L	S460L	Likely benign	0	1	44	0
MUT:EHMT1:Ser556Asn	PROT:Q9H9B1	EHMT1	S	556	N	S556N	Likely benign	0	1	44	0
MUT:EHMT1:Ser61Arg	PROT:Q9H9B1	EHMT1	S	61	R	S61R	Likely benign	0	1	44	23
MUT:EHMT1:Ser64Asn	PROT:Q9H9B1	EHMT1	S	64	N	S64N	Likely benign	0	1	44	26
MUT:EHMT1:Ser661Leu	PROT:Q9H9B1	EHMT1	S	661	L	S661L	Likely benign	0	1	44	2
MUT:EHMT1:Ser712Pro	PROT:Q9H9B1	EHMT1	S	712	P	S712P	Benign/Likely benign	0	1	44	4
MUT:EHMT1:Ser860Leu	PROT:Q9H9B1	EHMT1	S	860	L	S860L	Likely benign	0	1	44	30
MUT:EHMT1:Ser941Leu	PROT:Q9H9B1	EHMT1	S	941	L	S941L	Likely benign	0	1	44	27
MUT:EHMT1:Ser97Leu	PROT:Q9H9B1	EHMT1	S	97	L	S97L	Likely benign	0	1	44	32
MUT:EHMT1:Ser998Leu	PROT:Q9H9B1	EHMT1	S	998	L	S998L	Likely benign	0	1	44	6
MUT:EHMT1:Thr140Ile	PROT:Q9H9B1	EHMT1	T	140	I	T140I	Likely benign	0	1	44	11
MUT:EHMT1:Thr171Met	PROT:Q9H9B1	EHMT1	T	171	M	T171M	Benign/Likely benign	0	1	44	0
MUT:EHMT1:Thr171Pro	PROT:Q9H9B1	EHMT1	T	171	P	T171P	Likely benign	0	1	44	0
MUT:EHMT1:Thr178Asn	PROT:Q9H9B1	EHMT1	T	178	N	T178N	Likely benign	0	1	44	7
MUT:EHMT1:Thr311Met	PROT:Q9H9B1	EHMT1	T	311	M	T311M	Benign/Likely benign	0	2	44	16
MUT:EHMT1:Thr311Pro	PROT:Q9H9B1	EHMT1	T	311	P	T311P	Benign	0	1	44	16
MUT:EHMT1:Thr372Ser	PROT:Q9H9B1	EHMT1	T	372	S	T372S	Likely benign	0	1	44	0
MUT:EHMT1:Thr404Ala	PROT:Q9H9B1	EHMT1	T	404	A	T404A	Benign	0	1	44	9
MUT:EHMT1:Thr471Met	PROT:Q9H9B1	EHMT1	T	471	M	T471M	Benign/Likely benign	0	1	44	11
MUT:EHMT1:Thr671Met	PROT:Q9H9B1	EHMT1	T	671	M	T671M	Likely benign	0	1	44	12
MUT:EHMT1:Thr699Ala	PROT:Q9H9B1	EHMT1	T	699	A	T699A	Likely benign	0	1	44	9
MUT:EHMT1:Thr699Met	PROT:Q9H9B1	EHMT1	T	699	M	T699M	Likely benign	0	1	44	9
MUT:EHMT1:Thr708Ala	PROT:Q9H9B1	EHMT1	T	708	A	T708A	Likely benign	0	1	44	0
MUT:EHMT1:Thr73Ala	PROT:Q9H9B1	EHMT1	T	73	A	T73A	Benign	0	1	44	35
MUT:EHMT1:Thr87Ala	PROT:Q9H9B1	EHMT1	T	87	A	T87A	Likely benign	0	1	44	42
MUT:EHMT1:Thr89Ser	PROT:Q9H9B1	EHMT1	T	89	S	T89S	Benign	0	1	44	40
MUT:EHMT1:Thr974Met	PROT:Q9H9B1	EHMT1	T	974	M	T974M	Likely benign	0	1	44	6
MUT:EHMT1:Trp912Arg	PROT:Q9H9B1	EHMT1	W	912	R	W912R	Pathogenic	1	1	44	17
MUT:EHMT1:Tyr1018Cys	PROT:Q9H9B1	EHMT1	Y	1018	C	Y1018C	Likely benign	0	1	44	14
MUT:EHMT1:Tyr1131Cys	PROT:Q9H9B1	EHMT1	Y	1131	C	Y1131C	Benign/Likely benign	0	1	44	45
MUT:EHMT1:Tyr266Cys	PROT:Q9H9B1	EHMT1	Y	266	C	Y266C	Benign/Likely benign	0	1	44	27
MUT:EHMT1:Tyr461Cys	PROT:Q9H9B1	EHMT1	Y	461	C	Y461C	Likely benign	0	1	44	1
MUT:EHMT1:Tyr461Phe	PROT:Q9H9B1	EHMT1	Y	461	F	Y461F	Likely benign	0	1	44	1
MUT:EHMT1:Val1006Met	PROT:Q9H9B1	EHMT1	V	1006	M	V1006M	Benign/Likely benign	0	2	44	2
MUT:EHMT1:Val1010Gly	PROT:Q9H9B1	EHMT1	V	1010	G	V1010G	Likely benign	0	1	44	6
MUT:EHMT1:Val1010Met	PROT:Q9H9B1	EHMT1	V	1010	M	V1010M	Benign/Likely benign	0	1	44	6
MUT:EHMT1:Val1029Met	PROT:Q9H9B1	EHMT1	V	1029	M	V1029M	Likely benign	0	1	44	19
MUT:EHMT1:Val1041Ile	PROT:Q9H9B1	EHMT1	V	1041	I	V1041I	Likely benign	0	1	44	7
MUT:EHMT1:Val1063Met	PROT:Q9H9B1	EHMT1	V	1063	M	V1063M	Likely benign	0	1	44	15
MUT:EHMT1:Val109Ile	PROT:Q9H9B1	EHMT1	V	109	I	V109I	Benign/Likely benign	0	1	44	20
MUT:EHMT1:Val109Leu	PROT:Q9H9B1	EHMT1	V	109	L	V109L	Likely benign	0	1	44	20
MUT:EHMT1:Val1119Ala	PROT:Q9H9B1	EHMT1	V	1119	A	V1119A	Benign	0	1	44	33
MUT:EHMT1:Val1120Ile	PROT:Q9H9B1	EHMT1	V	1120	I	V1120I	Likely benign	0	2	44	34
MUT:EHMT1:Val1140Met	PROT:Q9H9B1	EHMT1	V	1140	M	V1140M	Likely benign	0	1	44	54
MUT:EHMT1:Val1195Ile	PROT:Q9H9B1	EHMT1	V	1195	I	V1195I	Likely benign	0	1	44	81
MUT:EHMT1:Val1210Ala	PROT:Q9H9B1	EHMT1	V	1210	A	V1210A	Likely benign	0	1	44	66
MUT:EHMT1:Val211Ile	PROT:Q9H9B1	EHMT1	V	211	I	V211I	Benign/Likely benign	0	1	44	2
MUT:EHMT1:Val212Met	PROT:Q9H9B1	EHMT1	V	212	M	V212M	Benign	0	1	44	3
MUT:EHMT1:Val285Leu	PROT:Q9H9B1	EHMT1	V	285	L	V285L	Likely benign	0	1	44	42
MUT:EHMT1:Val546Met	PROT:Q9H9B1	EHMT1	V	546	M	V546M	Benign/Likely benign	0	1	44	10
MUT:EHMT1:Val573Met	PROT:Q9H9B1	EHMT1	V	573	M	V573M	Likely benign	0	1	44	5
MUT:EHMT1:Val583Gly	PROT:Q9H9B1	EHMT1	V	583	G	V583G	Likely benign	0	1	44	15
MUT:EHMT1:Val640Met	PROT:Q9H9B1	EHMT1	V	640	M	V640M	Likely benign	0	1	44	2
MUT:EHMT1:Val651Leu	PROT:Q9H9B1	EHMT1	V	651	L	V651L	Benign	0	1	44	1
MUT:EHMT1:Val651Met	PROT:Q9H9B1	EHMT1	V	651	M	V651M	Likely benign	0	1	44	1
MUT:EHMT1:Val692Leu	PROT:Q9H9B1	EHMT1	V	692	L	V692L	Benign	0	1	44	16
MUT:EHMT1:Val692Met	PROT:Q9H9B1	EHMT1	V	692	M	V692M	Likely benign	0	1	44	16
MUT:EHMT1:Val759Gly	PROT:Q9H9B1	EHMT1	V	759	G	V759G	Likely benign	0	1	44	19
MUT:EHMT1:Val793Leu	PROT:Q9H9B1	EHMT1	V	793	L	V793L	Benign	0	1	44	30
MUT:EHMT1:Val822Gly	PROT:Q9H9B1	EHMT1	V	822	G	V822G	Pathogenic	1	1	44	1
MUT:EHMT1:Val832Met	PROT:Q9H9B1	EHMT1	V	832	M	V832M	Likely benign	0	1	44	5
MUT:EHMT1:Val866Ile	PROT:Q9H9B1	EHMT1	V	866	I	V866I	Benign/Likely benign	0	1	44	24
MUT:EHMT1:Val886Met	PROT:Q9H9B1	EHMT1	V	886	M	V886M	Likely benign	0	1	44	4
MUT:EHMT1:Val889Met	PROT:Q9H9B1	EHMT1	V	889	M	V889M	Likely benign	0	1	44	1
MUT:EHMT1:Val955Ala	PROT:Q9H9B1	EHMT1	V	955	A	V955A	Likely benign	0	1	44	13
MUT:EHMT2:Ala1077Ser	PROT:Q96KQ7	EHMT2	A	1077	S	A1077S	Pathogenic	1	1	33	30
MUT:EHMT2:Ala1077Thr	PROT:Q96KQ7	EHMT2	A	1077	T	A1077T	Pathogenic	1	2	33	30
MUT:EHMT2:Asn1112Ser	PROT:Q96KQ7	EHMT2	N	1112	S	N1112S	Pathogenic	1	1	33	65
MUT:EHMT2:Lys1162Arg	PROT:Q96KQ7	EHMT2	K	1162	R	K1162R	Pathogenic	1	1	33	25
MUT:EHMT2:Phe1158Leu	PROT:Q96KQ7	EHMT2	F	1158	L	F1158L	Pathogenic	1	1	33	29
MUT:EI24:Pro248Ser	PROT:O14681	EI24	P	248	S	P248S	Likely pathogenic	1	1	5	68
MUT:EIF1AX:Glu99Lys	PROT:P47813	EIF1AX	E	99	K	E99K	Likely pathogenic	1	1	9	3
MUT:EIF2AK2:Arg382Lys	PROT:P19525	EIF2AK2	R	382	K	R382K	Likely benign	0	1	37	2
MUT:EIF2AK2:Asp316His	PROT:P19525	EIF2AK2	D	316	H	D316H	Likely benign	0	1	37	12
MUT:EIF2AK2:Gln151Arg	PROT:P19525	EIF2AK2	Q	151	R	Q151R	Likely pathogenic	1	1	37	1
MUT:EIF2AK2:Gln164Lys	PROT:P19525	EIF2AK2	Q	164	K	Q164K	Likely benign	0	1	37	2
MUT:EIF2AK2:Glu384Lys	PROT:P19525	EIF2AK2	E	384	K	E384K	Likely benign	0	1	37	4
MUT:EIF2AK2:Gly130Arg	PROT:P19525	EIF2AK2	G	130	R	G130R	Pathogenic/Likely pathogenic	1	1	37	10
MUT:EIF2AK2:Gly290Arg	PROT:P19525	EIF2AK2	G	290	R	G290R	Benign/Likely benign	0	1	37	9
MUT:EIF2AK2:His132Arg	PROT:P19525	EIF2AK2	H	132	R	H132R	Likely benign	0	1	37	8
MUT:EIF2AK2:Met265Thr	PROT:P19525	EIF2AK2	M	265	T	M265T	Likely benign	0	1	37	3
MUT:EIF2AK2:Phe10Leu	PROT:P19525	EIF2AK2	F	10	L	F10L	Likely benign	0	1	37	4
MUT:EIF2AK2:Ser174Cys	PROT:P19525	EIF2AK2	S	174	C	S174C	Likely benign	0	1	37	12
MUT:EIF2AK2:Thr115Ser	PROT:P19525	EIF2AK2	T	115	S	T115S	Likely benign	0	1	37	14
MUT:EIF2AK2:Thr195Asn	PROT:P19525	EIF2AK2	T	195	N	T195N	Likely benign	0	1	37	33
MUT:EIF2AK4:Arg109His	PROT:Q9P2K8	EIF2AK4	R	109	H	R109H	Likely benign	0	1	19	7
MUT:EIF2AK4:Arg182Lys	PROT:Q9P2K8	EIF2AK4	R	182	K	R182K	Likely benign	0	1	19	23
MUT:EIF2AK4:Arg569Gln	PROT:Q9P2K8	EIF2AK4	R	569	Q	R569Q	Likely benign	0	1	19	3
MUT:EIF2AK4:Arg585Gln	PROT:Q9P2K8	EIF2AK4	R	585	Q	R585Q	Likely pathogenic	1	1	19	13
MUT:EIF2AK4:Asn1325Ser	PROT:Q9P2K8	EIF2AK4	N	1325	S	N1325S	Likely benign	0	1	19	66
MUT:EIF2AK4:Asn271Ser	PROT:Q9P2K8	EIF2AK4	N	271	S	N271S	Likely benign	0	1	19	2
MUT:EIF2AK4:Asn348Ser	PROT:Q9P2K8	EIF2AK4	N	348	S	N348S	Likely benign	0	1	19	79
MUT:EIF2AK4:Asp888His	PROT:Q9P2K8	EIF2AK4	D	888	H	D888H	Benign/Likely benign	0	2	19	11
MUT:EIF2AK4:Glu556Gly	PROT:Q9P2K8	EIF2AK4	E	556	G	E556G	Benign	0	1	19	16
MUT:EIF2AK4:Gly1109Arg	PROT:Q9P2K8	EIF2AK4	G	1109	R	G1109R	Likely pathogenic	1	1	19	69
MUT:EIF2AK4:Gly1306Cys	PROT:Q9P2K8	EIF2AK4	G	1306	C	G1306C	Benign	0	1	19	47
MUT:EIF2AK4:Gly599Arg	PROT:Q9P2K8	EIF2AK4	G	599	R	G599R	Likely pathogenic	1	1	19	11
MUT:EIF2AK4:His1202Leu	PROT:Q9P2K8	EIF2AK4	H	1202	L	H1202L	Likely pathogenic	1	1	19	57
MUT:EIF2AK4:Ile441Leu	PROT:Q9P2K8	EIF2AK4	I	441	L	I441L	Benign	0	1	19	26
MUT:EIF2AK4:Leu1295Arg	PROT:Q9P2K8	EIF2AK4	L	1295	R	L1295R	Likely pathogenic	1	1	19	36
MUT:EIF2AK4:Leu643Arg	PROT:Q9P2K8	EIF2AK4	L	643	R	L643R	Pathogenic	1	1	19	9
MUT:EIF2AK4:Lys1336Arg	PROT:Q9P2K8	EIF2AK4	K	1336	R	K1336R	Benign/Likely benign	0	3	19	77
MUT:EIF2AK4:Pro1115Leu	PROT:Q9P2K8	EIF2AK4	P	1115	L	P1115L	Pathogenic	1	1	19	75
MUT:EIF2AK4:Pro674Ser	PROT:Q9P2K8	EIF2AK4	P	674	S	P674S	Benign/Likely benign	0	1	19	7
MUT:EIF2AK4:Ser909Arg	PROT:Q9P2K8	EIF2AK4	S	909	R	S909R	Likely pathogenic	1	1	19	5
MUT:EIF2AK4:Val358Ile	PROT:Q9P2K8	EIF2AK4	V	358	I	V358I	Likely benign	0	1	19	89
MUT:EIF2AK4:Val439Ile	PROT:Q9P2K8	EIF2AK4	V	439	I	V439I	Likely benign	0	1	19	28
MUT:EIF2AK4:Val607Gly	PROT:Q9P2K8	EIF2AK4	V	607	G	V607G	Likely pathogenic	1	1	19	3
MUT:EIF2AK4:Val790Ala	PROT:Q9P2K8	EIF2AK4	V	790	A	V790A	Likely benign	0	1	19	20
MUT:EIF2B3:Ala87Val	PROT:Q9NR50	EIF2B3	A	87	V	A87V	Pathogenic/Likely pathogenic	1	3	17	5
MUT:EIF2B3:Arg225Gln	PROT:Q9NR50	EIF2B3	R	225	Q	R225Q	Pathogenic/Likely pathogenic	1	1	17	5
MUT:EIF2B3:Arg225Pro	PROT:Q9NR50	EIF2B3	R	225	P	R225P	Pathogenic	1	1	17	5
MUT:EIF2B3:Arg225Trp	PROT:Q9NR50	EIF2B3	R	225	W	R225W	Likely pathogenic	1	2	17	5
MUT:EIF2B3:Arg312Leu	PROT:Q9NR50	EIF2B3	R	312	L	R312L	Likely pathogenic	1	1	17	16
MUT:EIF2B3:Arg91His	PROT:Q9NR50	EIF2B3	R	91	H	R91H	Likely pathogenic	1	2	17	1
MUT:EIF2B3:Asp201Gly	PROT:Q9NR50	EIF2B3	D	201	G	D201G	Likely pathogenic	1	1	17	12
MUT:EIF2B3:Gly147Arg	PROT:Q9NR50	EIF2B3	G	147	R	G147R	Benign	0	1	17	1
MUT:EIF2B3:Ile346Thr	PROT:Q9NR50	EIF2B3	I	346	T	I346T	Pathogenic/Likely pathogenic	1	2	17	3
MUT:EIF2B3:Ile75Thr	PROT:Q9NR50	EIF2B3	I	75	T	I75T	Likely benign	0	2	17	3
MUT:EIF2B3:Leu168Pro	PROT:Q9NR50	EIF2B3	L	168	P	L168P	Likely pathogenic	1	1	17	3
MUT:EIF2B3:Leu27Gln	PROT:Q9NR50	EIF2B3	L	27	Q	L27Q	Pathogenic	1	1	17	45
MUT:EIF2B3:Ser89Tyr	PROT:Q9NR50	EIF2B3	S	89	Y	S89Y	Likely pathogenic	1	1	17	3
MUT:EIF2B3:Tyr205Cys	PROT:Q9NR50	EIF2B3	Y	205	C	Y205C	Likely pathogenic	1	1	17	15
MUT:EIF2B3:Val30Ala	PROT:Q9NR50	EIF2B3	V	30	A	V30A	Pathogenic/Likely pathogenic	1	2	17	42
MUT:EIF2B4:Ala228Val	PROT:Q9UI10	EIF2B4	A	228	V	A228V	Pathogenic	1	1	18	14
MUT:EIF2B4:Ala316Gly	PROT:Q9UI10	EIF2B4	A	316	G	A316G	Benign	0	1	18	12
MUT:EIF2B4:Arg306Gly	PROT:Q9UI10	EIF2B4	R	306	G	R306G	Benign	0	1	18	9
MUT:EIF2B4:Arg357Gln	PROT:Q9UI10	EIF2B4	R	357	Q	R357Q	Likely pathogenic	1	2	18	17
MUT:EIF2B4:Arg483Trp	PROT:Q9UI10	EIF2B4	R	483	W	R483W	Pathogenic	1	1	18	17
MUT:EIF2B4:Cys465Arg	PROT:Q9UI10	EIF2B4	C	465	R	C465R	Pathogenic	1	1	18	1
MUT:EIF2B4:Gly211Cys	PROT:Q9UI10	EIF2B4	G	211	C	G211C	Likely pathogenic	1	1	18	3
MUT:EIF2B4:His274Tyr	PROT:Q9UI10	EIF2B4	H	274	Y	H274Y	Likely benign	0	1	18	23
MUT:EIF2B4:Leu395Phe	PROT:Q9UI10	EIF2B4	L	395	F	L395F	Likely pathogenic	1	1	18	4
MUT:EIF2B4:Met207Thr	PROT:Q9UI10	EIF2B4	M	207	T	M207T	Pathogenic	1	1	18	7
MUT:EIF2B4:Pro184Leu	PROT:Q9UI10	EIF2B4	P	184	L	P184L	Likely pathogenic	1	1	18	3
MUT:EIF2B4:Pro205Ala	PROT:Q9UI10	EIF2B4	P	205	A	P205A	Likely pathogenic	1	1	18	9
MUT:EIF2B4:Pro243Leu	PROT:Q9UI10	EIF2B4	P	243	L	P243L	Pathogenic/Likely pathogenic	1	3	18	29
MUT:EIF2B4:Pro244Leu	PROT:Q9UI10	EIF2B4	P	244	L	P244L	Pathogenic	1	1	18	30
MUT:EIF2B4:Ser289Ile	PROT:Q9UI10	EIF2B4	S	289	I	S289I	Likely pathogenic	1	1	18	8
MUT:EIF2B4:Thr264Asn	PROT:Q9UI10	EIF2B4	T	264	N	T264N	Likely benign	0	1	18	33
MUT:EIF2B4:Thr502Met	PROT:Q9UI10	EIF2B4	T	502	M	T502M	Likely pathogenic	1	1	18	36
MUT:EIF2B4:Tyr489His	PROT:Q9UI10	EIF2B4	Y	489	H	Y489H	Pathogenic/Likely pathogenic	1	2	18	23
MUT:EIF2B4:Val27Ala	PROT:Q9UI10	EIF2B4	V	27	A	V27A	Likely benign	0	1	18	59
MUT:EIF2B4:Val313Ala	PROT:Q9UI10	EIF2B4	V	313	A	V313A	Benign/Likely benign	0	2	18	15
MUT:EIF2S3:Ile207Thr	PROT:P41091	EIF2S3	I	207	T	I207T	Likely pathogenic	1	1	26	59
MUT:EIF2S3:Ile222Thr	PROT:P41091	EIF2S3	I	222	T	I222T	Pathogenic	1	1	26	44
MUT:EIF2S3:Ile259Met	PROT:P41091	EIF2S3	I	259	M	I259M	Pathogenic	1	1	26	7
MUT:EIF2S3:Leu274Val	PROT:P41091	EIF2S3	L	274	V	L274V	Likely pathogenic	1	1	26	8
MUT:EIF2S3:Met145Val	PROT:P41091	EIF2S3	M	145	V	M145V	Likely pathogenic	1	1	26	24
MUT:EIF2S3:Pro432Ser	PROT:P41091	EIF2S3	P	432	S	P432S	Pathogenic	1	1	26	3
MUT:EIF2S3:Ser305Gly	PROT:P41091	EIF2S3	S	305	G	S305G	Likely benign	0	1	26	2
MUT:EIF2S3:Thr144Ile	PROT:P41091	EIF2S3	T	144	I	T144I	Likely pathogenic	1	1	26	23
MUT:EIF4EBP3:Ile39Met	PROT:O60516	EIF4EBP3	I	39	M	I39M	Likely benign	0	1	2	12
MUT:EIF5A:Arg109Gly	PROT:P63241	EIF5A	R	109	G	R109G	Pathogenic	1	1	16	12
MUT:EIF5A:Arg26Pro	PROT:P63241	EIF5A	R	26	P	R26P	Likely pathogenic	1	1	16	1
MUT:EIF5A:Gly106Arg	PROT:P63241	EIF5A	G	106	R	G106R	Pathogenic	1	1	16	15
MUT:EIF5A:Ser139Ile	PROT:P63241	EIF5A	S	139	I	S139I	Likely pathogenic	1	1	16	12
MUT:EIF5A:Thr48Asn	PROT:P63241	EIF5A	T	48	N	T48N	Pathogenic	1	1	16	1
MUT:EIF5B:Glu237Val	PROT:O60841	EIF5B	E	237	V	E237V	Benign/Likely benign	0	6	43	15
MUT:EIF6:Phe222Cys	PROT:P56537	EIF6	F	222	C	F222C	Likely benign	0	1	13	8
MUT:EIPR1:Arg16His	PROT:Q53HC9	EIPR1	R	16	H	R16H	Pathogenic	1	1	7	41
MUT:EIPR1:Arg232Trp	PROT:Q53HC9	EIPR1	R	232	W	R232W	Pathogenic	1	1	7	8
MUT:EIPR1:Arg279Gly	PROT:Q53HC9	EIPR1	R	279	G	R279G	Pathogenic	1	1	7	13
MUT:EIPR1:Val140Asp	PROT:Q53HC9	EIPR1	V	140	D	V140D	Pathogenic	1	1	7	49
MUT:ELF2:Ala4Thr	PROT:Q15723	ELF2	A	4	T	A4T	Likely pathogenic	1	1	7	356
MUT:ELF4:Ala147Val	PROT:Q99607	ELF4	A	147	V	A147V	Benign/Likely benign	0	1	17	3
MUT:ELF4:Arg604Cys	PROT:Q99607	ELF4	R	604	C	R604C	Benign	0	1	17	37
MUT:ELF4:Trp231Arg	PROT:Q99607	ELF4	W	231	R	W231R	Pathogenic	1	1	17	1
MUT:ELF4:Trp251Ser	PROT:Q99607	ELF4	W	251	S	W251S	Pathogenic	1	1	17	2
MUT:ELFN1:Pro50His	PROT:P0C7U0	ELFN1	P	50	H	P50H	Pathogenic	1	1	3	573
MUT:ELL2:Ile58Val	PROT:O00472	ELL2	I	58	V	I58V	Likely benign	0	13	12	232
MUT:ELMOD3:Ala133Thr	PROT:Q96FG2	ELMOD3	A	133	T	A133T	Benign	0	1	1	123
MUT:ELMOD3:Ala289Thr	PROT:Q96FG2	ELMOD3	A	289	T	A289T	Benign/Likely benign	0	1	1	279
MUT:ELMOD3:Arg173Gly	PROT:Q96FG2	ELMOD3	R	173	G	R173G	Likely benign	0	1	1	163
MUT:ELMOD3:Arg276Gln	PROT:Q96FG2	ELMOD3	R	276	Q	R276Q	Likely benign	0	1	1	266
MUT:ELMOD3:Asp188Asn	PROT:Q96FG2	ELMOD3	D	188	N	D188N	Benign	0	1	1	178
MUT:ELMOD3:Asp361Val	PROT:Q96FG2	ELMOD3	D	361	V	D361V	Likely benign	0	1	1	351
MUT:ELMOD3:Glu236Lys	PROT:Q96FG2	ELMOD3	E	236	K	E236K	Likely benign	0	1	1	226
MUT:ELMOD3:Ile85Ser	PROT:Q96FG2	ELMOD3	I	85	S	I85S	Likely benign	0	1	1	75
MUT:ELMOD3:Leu265Ser	PROT:Q96FG2	ELMOD3	L	265	S	L265S	Pathogenic	1	1	1	255
MUT:ELMOD3:Ser105Gly	PROT:Q96FG2	ELMOD3	S	105	G	S105G	Benign	0	9	1	95
MUT:ELOVL5:Gly230Val	PROT:Q9NYP7	ELOVL5	G	230	V	G230V	Pathogenic	1	1	4	43
MUT:ELOVL5:Leu72Val	PROT:Q9NYP7	ELOVL5	L	72	V	L72V	Pathogenic	1	1	4	16
MUT:ELP1:Ala574Val	PROT:O95163	ELP1	A	574	V	A574V	Benign	0	2	34	87
MUT:ELP1:Arg525Gln	PROT:O95163	ELP1	R	525	Q	R525Q	Benign	0	1	34	38
MUT:ELP1:Arg696Pro	PROT:O95163	ELP1	R	696	P	R696P	Pathogenic/Likely pathogenic	1	2	34	1
MUT:ELP1:Cys1072Ser	PROT:O95163	ELP1	C	1072	S	C1072S	Benign	0	1	34	17
MUT:ELP1:Glu312Lys	PROT:O95163	ELP1	E	312	K	E312K	Benign/Likely benign	0	1	34	31
MUT:ELP1:Gly1013Ser	PROT:O95163	ELP1	G	1013	S	G1013S	Benign/Likely benign	0	1	34	42
MUT:ELP1:Gly765Glu	PROT:O95163	ELP1	G	765	E	G765E	Benign	0	1	34	23
MUT:ELP1:Ile816Leu	PROT:O95163	ELP1	I	816	L	I816L	Benign	0	1	34	1
MUT:ELP1:Ile830Met	PROT:O95163	ELP1	I	830	M	I830M	Benign	0	1	34	4
MUT:ELP1:Lys952Ile	PROT:O95163	ELP1	K	952	I	K952I	Benign/Likely benign	0	1	34	0
MUT:ELP1:Met182Lys	PROT:O95163	ELP1	M	182	K	M182K	Benign/Likely benign	0	1	34	9
MUT:ELP1:Met1Leu	PROT:O95163	ELP1	M	1	L	M1L	Likely pathogenic	1	1	34	165
MUT:ELP1:Phe206Cys	PROT:O95163	ELP1	F	206	C	F206C	Likely benign	0	1	34	33
MUT:ELP1:Pro1158Leu	PROT:O95163	ELP1	P	1158	L	P1158L	Benign	0	1	34	48
MUT:ELP1:Pro914Leu	PROT:O95163	ELP1	P	914	L	P914L	Likely pathogenic	1	2	34	1
MUT:ELP1:Ser251Gly	PROT:O95163	ELP1	S	251	G	S251G	Benign/Likely benign	0	1	34	0
MUT:ELP1:Ser339Arg	PROT:O95163	ELP1	S	339	R	S339R	Benign/Likely benign	0	1	34	4
MUT:ELP1:Ser96Gly	PROT:O95163	ELP1	S	96	G	S96G	Benign/Likely benign	0	2	34	70
MUT:ELP1:Thr848Asn	PROT:O95163	ELP1	T	848	N	T848N	Benign/Likely benign	0	2	34	2
MUT:ELP6:Arg123Gln	PROT:Q0PNE2	ELP6	R	123	Q	R123Q	Likely benign	0	1	6	24
MUT:EMD:Arg157Trp	PROT:P50402	EMD	R	157	W	R157W	Likely benign	0	1	56	2
MUT:EMD:Arg207Pro	PROT:P50402	EMD	R	207	P	R207P	Benign	0	2	56	18
MUT:EMD:Asp149His	PROT:P50402	EMD	D	149	H	D149H	Benign/Likely benign	0	3	56	6
MUT:EMD:Glu11Asp	PROT:P50402	EMD	E	11	D	E11D	Likely benign	0	1	56	1
MUT:EMD:Gly156Ser	PROT:P50402	EMD	G	156	S	G156S	Benign/Likely benign	0	3	56	1
MUT:EMD:Met191Thr	PROT:P50402	EMD	M	191	T	M191T	Likely benign	0	2	56	2
MUT:EMD:Met1Arg	PROT:P50402	EMD	M	1	R	M1R	Pathogenic	1	1	56	0
MUT:EMD:Met1Ile	PROT:P50402	EMD	M	1	I	M1I	Pathogenic	1	1	56	0
MUT:EMD:Met1Thr	PROT:P50402	EMD	M	1	T	M1T	Pathogenic	1	1	56	0
MUT:EMD:Met1Val	PROT:P50402	EMD	M	1	V	M1V	Pathogenic	1	2	56	0
MUT:EMD:Pro183His	PROT:P50402	EMD	P	183	H	P183H	Pathogenic	1	1	56	1
MUT:EMD:Pro183Thr	PROT:P50402	EMD	P	183	T	P183T	Pathogenic	1	1	56	1
MUT:EMD:Ser194Leu	PROT:P50402	EMD	S	194	L	S194L	Benign	0	2	56	5
MUT:EMD:Thr104Asn	PROT:P50402	EMD	T	104	N	T104N	Likely benign	0	1	56	0
MUT:EMG1:Arg41Cys	PROT:Q92979	EMG1	R	41	C	R41C	Likely benign	0	1	1	50
MUT:EMG1:Asp86Gly	PROT:Q92979	EMG1	D	86	G	D86G	Pathogenic	1	1	1	5
MUT:EMG1:Ser14Arg	PROT:Q92979	EMG1	S	14	R	S14R	Likely benign	0	1	1	77
MUT:EMSY:Val754Ala	PROT:Q7Z589	EMSY	V	754	A	V754A	Likely benign	0	1	53	34
MUT:EN1:Pro56Ala	PROT:Q05925	EN1	P	56	A	P56A	Likely benign	0	1	1	93
MUT:ENAM:Arg112His	PROT:Q9NRM1	ENAM	R	112	H	R112H	Likely benign	0	1	3	79
MUT:ENAM:Arg763Gln	PROT:Q9NRM1	ENAM	R	763	Q	R763Q	Benign	0	8	3	143
MUT:ENAM:Asn988Ser	PROT:Q9NRM1	ENAM	N	988	S	N988S	Likely benign	0	1	3	77
MUT:ENAM:Asp921His	PROT:Q9NRM1	ENAM	D	921	H	D921H	Likely benign	0	1	3	10
MUT:ENAM:Gly389Ser	PROT:Q9NRM1	ENAM	G	389	S	G389S	Benign/Likely benign	0	1	3	198
MUT:ENAM:Gly68Ser	PROT:Q9NRM1	ENAM	G	68	S	G68S	Likely benign	0	1	3	123
MUT:ENAM:Gly913Asp	PROT:Q9NRM1	ENAM	G	913	D	G913D	Likely benign	0	1	3	2
MUT:ENAM:Ile447Thr	PROT:Q9NRM1	ENAM	I	447	T	I447T	Likely benign	0	1	3	256
MUT:ENAM:Ile648Thr	PROT:Q9NRM1	ENAM	I	648	T	I648T	Benign	0	1	3	258
MUT:ENAM:Ile741Thr	PROT:Q9NRM1	ENAM	I	741	T	I741T	Likely benign	0	1	3	165
MUT:ENAM:Ile997Val	PROT:Q9NRM1	ENAM	I	997	V	I997V	Likely benign	0	1	3	86
MUT:ENAM:Leu31Arg	PROT:Q9NRM1	ENAM	L	31	R	L31R	Pathogenic/Likely pathogenic	1	1	3	160
MUT:ENAM:Lys1106Gln	PROT:Q9NRM1	ENAM	K	1106	Q	K1106Q	Likely benign	0	1	3	195
MUT:ENAM:Met737Val	PROT:Q9NRM1	ENAM	M	737	V	M737V	Likely benign	0	1	3	169
MUT:ENAM:Phe576Leu	PROT:Q9NRM1	ENAM	F	576	L	F576L	Benign	0	1	3	330
MUT:ENAM:Pro155Thr	PROT:Q9NRM1	ENAM	P	155	T	P155T	Likely benign	0	1	3	36
MUT:ENAM:Pro724Leu	PROT:Q9NRM1	ENAM	P	724	L	P724L	Benign	0	1	3	182
MUT:ENAM:Val378Ile	PROT:Q9NRM1	ENAM	V	378	I	V378I	Likely benign	0	1	3	187
MUT:ENAM:Val657Ile	PROT:Q9NRM1	ENAM	V	657	I	V657I	Likely benign	0	1	3	249
MUT:ENG:Ala111Thr	PROT:P17813	ENG	A	111	T	A111T	Likely benign	0	1	8	501
MUT:ENG:Ala175Pro	PROT:P17813	ENG	A	175	P	A175P	Pathogenic	1	1	8	437
MUT:ENG:Ala175Ser	PROT:P17813	ENG	A	175	S	A175S	Pathogenic/Likely pathogenic	1	2	8	437
MUT:ENG:Ala175Thr	PROT:P17813	ENG	A	175	T	A175T	Pathogenic	1	1	8	437
MUT:ENG:Ala213Asp	PROT:P17813	ENG	A	213	D	A213D	Likely benign	0	1	8	399
MUT:ENG:Ala308Asp	PROT:P17813	ENG	A	308	D	A308D	Pathogenic/Likely pathogenic	1	3	8	304
MUT:ENG:Ala418Pro	PROT:P17813	ENG	A	418	P	A418P	Likely benign	0	1	8	194
MUT:ENG:Ala591Thr	PROT:P17813	ENG	A	591	T	A591T	Benign/Likely benign	0	1	8	21
MUT:ENG:Ala60Asp	PROT:P17813	ENG	A	60	D	A60D	Benign	0	1	8	552
MUT:ENG:Ala60Glu	PROT:P17813	ENG	A	60	E	A60E	Benign/Likely benign	0	2	8	552
MUT:ENG:Ala60Val	PROT:P17813	ENG	A	60	V	A60V	Likely benign	0	1	8	552
MUT:ENG:Ala84Pro	PROT:P17813	ENG	A	84	P	A84P	Likely benign	0	1	8	528
MUT:ENG:Arg171Leu	PROT:P17813	ENG	R	171	L	R171L	Likely benign	0	1	8	441
MUT:ENG:Arg192Gly	PROT:P17813	ENG	R	192	G	R192G	Likely benign	0	1	8	420
MUT:ENG:Arg197Gln	PROT:P17813	ENG	R	197	Q	R197Q	Benign	0	1	8	415
MUT:ENG:Arg199Cys	PROT:P17813	ENG	R	199	C	R199C	Benign	0	1	8	413
MUT:ENG:Arg205Gln	PROT:P17813	ENG	R	205	Q	R205Q	Likely benign	0	1	8	407
MUT:ENG:Arg205Pro	PROT:P17813	ENG	R	205	P	R205P	Pathogenic/Likely pathogenic	1	1	8	407
MUT:ENG:Arg205Trp	PROT:P17813	ENG	R	205	W	R205W	Likely benign	0	1	8	407
MUT:ENG:Arg232Gln	PROT:P17813	ENG	R	232	Q	R232Q	Likely benign	0	1	8	380
MUT:ENG:Arg288Cys	PROT:P17813	ENG	R	288	C	R288C	Likely benign	0	1	8	324
MUT:ENG:Arg333Lys	PROT:P17813	ENG	R	333	K	R333K	Likely benign	0	1	8	279
MUT:ENG:Arg399Gly	PROT:P17813	ENG	R	399	G	R399G	Likely benign	0	1	8	213
MUT:ENG:Arg437Gly	PROT:P17813	ENG	R	437	G	R437G	Likely pathogenic	1	1	8	175
MUT:ENG:Arg437Trp	PROT:P17813	ENG	R	437	W	R437W	Pathogenic/Likely pathogenic	1	2	8	175
MUT:ENG:Arg478Ser	PROT:P17813	ENG	R	478	S	R478S	Likely benign	0	1	8	134
MUT:ENG:Arg529His	PROT:P17813	ENG	R	529	H	R529H	Pathogenic	1	3	8	83
MUT:ENG:Arg554Cys	PROT:P17813	ENG	R	554	C	R554C	Likely benign	0	1	8	58
MUT:ENG:Arg554His	PROT:P17813	ENG	R	554	H	R554H	Likely benign	0	1	8	58
MUT:ENG:Arg571His	PROT:P17813	ENG	R	571	H	R571H	Likely benign	0	3	8	41
MUT:ENG:Arg618Leu	PROT:P17813	ENG	R	618	L	R618L	Pathogenic	1	1	8	4
MUT:ENG:Arg93Gln	PROT:P17813	ENG	R	93	Q	R93Q	Benign	0	1	8	519
MUT:ENG:Asn134Asp	PROT:P17813	ENG	N	134	D	N134D	Likely benign	0	1	8	478
MUT:ENG:Asn423His	PROT:P17813	ENG	N	423	H	N423H	Likely pathogenic	1	1	8	189
MUT:ENG:Asn423Ser	PROT:P17813	ENG	N	423	S	N423S	Likely pathogenic	1	3	8	189
MUT:ENG:Asn59Ser	PROT:P17813	ENG	N	59	S	N59S	Benign	0	1	8	553
MUT:ENG:Asp248Asn	PROT:P17813	ENG	D	248	N	D248N	Benign	0	1	8	364
MUT:ENG:Asp365Asn	PROT:P17813	ENG	D	365	N	D365N	Benign/Likely benign	0	1	8	247
MUT:ENG:Asp366His	PROT:P17813	ENG	D	366	H	D366H	Benign/Likely benign	0	4	8	246
MUT:ENG:Asp446Gly	PROT:P17813	ENG	D	446	G	D446G	Likely benign	0	1	8	166
MUT:ENG:Asp561Ala	PROT:P17813	ENG	D	561	A	D561A	Likely benign	0	1	8	51
MUT:ENG:Asp578Glu	PROT:P17813	ENG	D	578	E	D578E	Likely pathogenic	1	1	8	34
MUT:ENG:Cys207Arg	PROT:P17813	ENG	C	207	R	C207R	Pathogenic/Likely pathogenic	1	1	8	405
MUT:ENG:Cys207Phe	PROT:P17813	ENG	C	207	F	C207F	Likely pathogenic	1	1	8	405
MUT:ENG:Cys207Tyr	PROT:P17813	ENG	C	207	Y	C207Y	Likely pathogenic	1	1	8	405
MUT:ENG:Cys30Arg	PROT:P17813	ENG	C	30	R	C30R	Likely pathogenic	1	1	8	582
MUT:ENG:Cys30Ser	PROT:P17813	ENG	C	30	S	C30S	Likely pathogenic	1	1	8	582
MUT:ENG:Cys363Arg	PROT:P17813	ENG	C	363	R	C363R	Pathogenic/Likely pathogenic	1	2	8	249
MUT:ENG:Cys363Gly	PROT:P17813	ENG	C	363	G	C363G	Pathogenic/Likely pathogenic	1	2	8	249
MUT:ENG:Cys363Ser	PROT:P17813	ENG	C	363	S	C363S	Pathogenic	1	1	8	249
MUT:ENG:Cys363Tyr	PROT:P17813	ENG	C	363	Y	C363Y	Pathogenic/Likely pathogenic	1	1	8	249
MUT:ENG:Cys382Tyr	PROT:P17813	ENG	C	382	Y	C382Y	Pathogenic	1	2	8	230
MUT:ENG:Cys394Arg	PROT:P17813	ENG	C	394	R	C394R	Pathogenic	1	1	8	218
MUT:ENG:Cys412Gly	PROT:P17813	ENG	C	412	G	C412G	Likely pathogenic	1	1	8	200
MUT:ENG:Cys412Tyr	PROT:P17813	ENG	C	412	Y	C412Y	Pathogenic/Likely pathogenic	1	1	8	200
MUT:ENG:Cys493Phe	PROT:P17813	ENG	C	493	F	C493F	Likely pathogenic	1	1	8	119
MUT:ENG:Cys53Arg	PROT:P17813	ENG	C	53	R	C53R	Pathogenic/Likely pathogenic	1	1	8	559
MUT:ENG:Cys549Gly	PROT:P17813	ENG	C	549	G	C549G	Likely pathogenic	1	2	8	63
MUT:ENG:Cys549Ser	PROT:P17813	ENG	C	549	S	C549S	Likely pathogenic	1	1	8	63
MUT:ENG:Cys549Tyr	PROT:P17813	ENG	C	549	Y	C549Y	Pathogenic/Likely pathogenic	1	1	8	63
MUT:ENG:Gln270Arg	PROT:P17813	ENG	Q	270	R	Q270R	Likely benign	0	1	8	342
MUT:ENG:Glu195Gln	PROT:P17813	ENG	E	195	Q	E195Q	Likely benign	0	1	8	417
MUT:ENG:Glu38Lys	PROT:P17813	ENG	E	38	K	E38K	Benign/Likely benign	0	2	8	574
MUT:ENG:Glu468Lys	PROT:P17813	ENG	E	468	K	E468K	Likely benign	0	1	8	144
MUT:ENG:Glu70Lys	PROT:P17813	ENG	E	70	K	E70K	Likely benign	0	1	8	542
MUT:ENG:Gly191Asp	PROT:P17813	ENG	G	191	D	G191D	Benign	0	3	8	421
MUT:ENG:Gly206Ala	PROT:P17813	ENG	G	206	A	G206A	Benign/Likely benign	0	1	8	406
MUT:ENG:Gly245Arg	PROT:P17813	ENG	G	245	R	G245R	Likely benign	0	1	8	367
MUT:ENG:Gly255Arg	PROT:P17813	ENG	G	255	R	G255R	Likely pathogenic	1	1	8	357
MUT:ENG:Gly255Cys	PROT:P17813	ENG	G	255	C	G255C	Likely pathogenic	1	1	8	357
MUT:ENG:Gly289Asp	PROT:P17813	ENG	G	289	D	G289D	Likely pathogenic	1	1	8	323
MUT:ENG:Gly331Ser	PROT:P17813	ENG	G	331	S	G331S	Pathogenic	1	2	8	281
MUT:ENG:Gly40Cys	PROT:P17813	ENG	G	40	C	G40C	Likely benign	0	1	8	572
MUT:ENG:Gly413Asp	PROT:P17813	ENG	G	413	D	G413D	Likely benign	0	1	8	199
MUT:ENG:Gly413Val	PROT:P17813	ENG	G	413	V	G413V	Pathogenic	1	1	8	199
MUT:ENG:Gly4Arg	PROT:P17813	ENG	G	4	R	G4R	Likely benign	0	1	8	608
MUT:ENG:Gly509Ala	PROT:P17813	ENG	G	509	A	G509A	Benign/Likely benign	0	1	8	103
MUT:ENG:Gly514Ser	PROT:P17813	ENG	G	514	S	G514S	Likely benign	0	1	8	98
MUT:ENG:Gly52Asp	PROT:P17813	ENG	G	52	D	G52D	Pathogenic/Likely pathogenic	1	2	8	560
MUT:ENG:Gly545Ser	PROT:P17813	ENG	G	545	S	G545S	Likely benign	0	5	8	67
MUT:ENG:Gly558Arg	PROT:P17813	ENG	G	558	R	G558R	Benign/Likely benign	0	1	8	54
MUT:ENG:Gly603Arg	PROT:P17813	ENG	G	603	R	G603R	Likely pathogenic	1	2	8	9
MUT:ENG:Ile220Thr	PROT:P17813	ENG	I	220	T	I220T	Pathogenic/Likely pathogenic	1	2	8	392
MUT:ENG:Ile252Thr	PROT:P17813	ENG	I	252	T	I252T	Pathogenic	1	1	8	360
MUT:ENG:Ile263Ser	PROT:P17813	ENG	I	263	S	I263S	Likely pathogenic	1	1	8	349
MUT:ENG:Ile322Thr	PROT:P17813	ENG	I	322	T	I322T	Likely benign	0	1	8	290
MUT:ENG:Ile341Thr	PROT:P17813	ENG	I	341	T	I341T	Likely benign	0	1	8	271
MUT:ENG:Ile574Val	PROT:P17813	ENG	I	574	V	I574V	Likely benign	0	1	8	38
MUT:ENG:Leu124Val	PROT:P17813	ENG	L	124	V	L124V	Likely benign	0	1	8	488
MUT:ENG:Leu138Pro	PROT:P17813	ENG	L	138	P	L138P	Likely benign	0	1	8	474
MUT:ENG:Leu147Phe	PROT:P17813	ENG	L	147	F	L147F	Likely benign	0	1	8	465
MUT:ENG:Leu14Pro	PROT:P17813	ENG	L	14	P	L14P	Pathogenic	1	1	8	598
MUT:ENG:Leu209Phe	PROT:P17813	ENG	L	209	F	L209F	Benign	0	1	8	403
MUT:ENG:Leu221Pro	PROT:P17813	ENG	L	221	P	L221P	Likely pathogenic	1	3	8	391
MUT:ENG:Leu299Arg	PROT:P17813	ENG	L	299	R	L299R	Likely pathogenic	1	2	8	313
MUT:ENG:Leu299Val	PROT:P17813	ENG	L	299	V	L299V	Likely pathogenic	1	1	8	313
MUT:ENG:Leu300Pro	PROT:P17813	ENG	L	300	P	L300P	Pathogenic/Likely pathogenic	1	2	8	312
MUT:ENG:Leu325Arg	PROT:P17813	ENG	L	325	R	L325R	Likely pathogenic	1	1	8	287
MUT:ENG:Leu32Arg	PROT:P17813	ENG	L	32	R	L32R	Likely pathogenic	1	1	8	580
MUT:ENG:Leu32His	PROT:P17813	ENG	L	32	H	L32H	Pathogenic/Likely pathogenic	1	1	8	580
MUT:ENG:Leu370Val	PROT:P17813	ENG	L	370	V	L370V	Likely benign	0	1	8	242
MUT:ENG:Leu405Ser	PROT:P17813	ENG	L	405	S	L405S	Likely pathogenic	1	1	8	207
MUT:ENG:Leu443Val	PROT:P17813	ENG	L	443	V	L443V	Likely benign	0	1	8	169
MUT:ENG:Leu490Ser	PROT:P17813	ENG	L	490	S	L490S	Pathogenic/Likely pathogenic	1	2	8	122
MUT:ENG:Leu495Pro	PROT:P17813	ENG	L	495	P	L495P	Likely pathogenic	1	1	8	117
MUT:ENG:Leu506His	PROT:P17813	ENG	L	506	H	L506H	Likely pathogenic	1	3	8	106
MUT:ENG:Leu506Pro	PROT:P17813	ENG	L	506	P	L506P	Pathogenic/Likely pathogenic	1	2	8	106
MUT:ENG:Leu520Pro	PROT:P17813	ENG	L	520	P	L520P	Likely pathogenic	1	2	8	92
MUT:ENG:Leu62His	PROT:P17813	ENG	L	62	H	L62H	Likely benign	0	1	8	550
MUT:ENG:Leu8Pro	PROT:P17813	ENG	L	8	P	L8P	Pathogenic/Likely pathogenic	1	1	8	604
MUT:ENG:Leu97Arg	PROT:P17813	ENG	L	97	R	L97R	Pathogenic	1	1	8	515
MUT:ENG:Leu99His	PROT:P17813	ENG	L	99	H	L99H	Likely pathogenic	1	1	8	513
MUT:ENG:Lys374Ser	PROT:P17813	ENG	K	374	S	K374S	Pathogenic/Likely pathogenic	1	2	8	238
MUT:ENG:Lys439Thr	PROT:P17813	ENG	K	439	T	K439T	Likely benign	0	2	8	173
MUT:ENG:Lys51Asn	PROT:P17813	ENG	K	51	N	K51N	Benign/Likely benign	0	1	8	561
MUT:ENG:Met190Val	PROT:P17813	ENG	M	190	V	M190V	Likely benign	0	1	8	422
MUT:ENG:Met1Arg	PROT:P17813	ENG	M	1	R	M1R	Pathogenic	1	2	8	611
MUT:ENG:Met1Ile	PROT:P17813	ENG	M	1	I	M1I	Pathogenic	1	2	8	611
MUT:ENG:Met1Leu	PROT:P17813	ENG	M	1	L	M1L	Pathogenic	1	1	8	611
MUT:ENG:Met1Thr	PROT:P17813	ENG	M	1	T	M1T	Pathogenic	1	1	8	611
MUT:ENG:Met1Val	PROT:P17813	ENG	M	1	V	M1V	Pathogenic	1	2	8	611
MUT:ENG:Met269Arg	PROT:P17813	ENG	M	269	R	M269R	Pathogenic	1	1	8	343
MUT:ENG:Met368Thr	PROT:P17813	ENG	M	368	T	M368T	Pathogenic	1	1	8	244
MUT:ENG:Met414Arg	PROT:P17813	ENG	M	414	R	M414R	Likely pathogenic	1	1	8	198
MUT:ENG:Met414Lys	PROT:P17813	ENG	M	414	K	M414K	Pathogenic	1	1	8	198
MUT:ENG:Met414Val	PROT:P17813	ENG	M	414	V	M414V	Likely pathogenic	1	1	8	198
MUT:ENG:Met420Thr	PROT:P17813	ENG	M	420	T	M420T	Likely benign	0	1	8	192
MUT:ENG:Met570Ile	PROT:P17813	ENG	M	570	I	M570I	Likely benign	0	1	8	42
MUT:ENG:Pro115Leu	PROT:P17813	ENG	P	115	L	P115L	Likely benign	0	1	8	497
MUT:ENG:Pro130Leu	PROT:P17813	ENG	P	130	L	P130L	Likely benign	0	1	8	482
MUT:ENG:Pro130Ser	PROT:P17813	ENG	P	130	S	P130S	Benign/Likely benign	0	3	8	482
MUT:ENG:Pro131Gln	PROT:P17813	ENG	P	131	Q	P131Q	Likely benign	0	1	8	481
MUT:ENG:Pro131Leu	PROT:P17813	ENG	P	131	L	P131L	Benign	0	4	8	481
MUT:ENG:Pro165Leu	PROT:P17813	ENG	P	165	L	P165L	Pathogenic	1	1	8	447
MUT:ENG:Pro198Leu	PROT:P17813	ENG	P	198	L	P198L	Benign	0	1	8	414
MUT:ENG:Pro201Gln	PROT:P17813	ENG	P	201	Q	P201Q	Benign/Likely benign	0	1	8	411
MUT:ENG:Pro225Arg	PROT:P17813	ENG	P	225	R	P225R	Likely benign	0	1	8	387
MUT:ENG:Pro469Leu	PROT:P17813	ENG	P	469	L	P469L	Likely benign	0	1	8	143
MUT:ENG:Pro75Leu	PROT:P17813	ENG	P	75	L	P75L	Likely benign	0	1	8	537
MUT:ENG:Ser16Arg	PROT:P17813	ENG	S	16	R	S16R	Likely benign	0	1	8	596
MUT:ENG:Ser180Phe	PROT:P17813	ENG	S	180	F	S180F	Likely benign	0	1	8	432
MUT:ENG:Ser187Arg	PROT:P17813	ENG	S	187	R	S187R	Likely benign	0	1	8	425
MUT:ENG:Ser241Asn	PROT:P17813	ENG	S	241	N	S241N	Likely benign	0	1	8	371
MUT:ENG:Ser278Pro	PROT:P17813	ENG	S	278	P	S278P	Pathogenic/Likely pathogenic	1	1	8	334
MUT:ENG:Ser329Arg	PROT:P17813	ENG	S	329	R	S329R	Likely pathogenic	1	1	8	283
MUT:ENG:Ser407Asn	PROT:P17813	ENG	S	407	N	S407N	Likely pathogenic	1	2	8	205
MUT:ENG:Ser432Thr	PROT:P17813	ENG	S	432	T	S432T	Likely benign	0	1	8	180
MUT:ENG:Ser464Thr	PROT:P17813	ENG	S	464	T	S464T	Likely benign	0	1	8	148
MUT:ENG:Ser615Leu	PROT:P17813	ENG	S	615	L	S615L	Likely benign	0	3	8	1
MUT:ENG:Ser615Trp	PROT:P17813	ENG	S	615	W	S615W	Likely benign	0	1	8	1
MUT:ENG:Thr135Asn	PROT:P17813	ENG	T	135	N	T135N	Benign	0	1	8	477
MUT:ENG:Thr157Ile	PROT:P17813	ENG	T	157	I	T157I	Likely benign	0	1	8	455
MUT:ENG:Thr27Ala	PROT:P17813	ENG	T	27	A	T27A	Likely benign	0	1	8	585
MUT:ENG:Thr295Ile	PROT:P17813	ENG	T	295	I	T295I	Likely pathogenic	1	1	8	317
MUT:ENG:Thr385Met	PROT:P17813	ENG	T	385	M	T385M	Likely benign	0	1	8	227
MUT:ENG:Thr538Ala	PROT:P17813	ENG	T	538	A	T538A	Likely benign	0	1	8	74
MUT:ENG:Thr546Ile	PROT:P17813	ENG	T	546	I	T546I	Benign/Likely benign	0	1	8	66
MUT:ENG:Thr5Met	PROT:P17813	ENG	T	5	M	T5M	Benign/Likely benign	0	2	8	607
MUT:ENG:Thr73Met	PROT:P17813	ENG	T	73	M	T73M	Likely benign	0	1	8	539
MUT:ENG:Thr90Ile	PROT:P17813	ENG	T	90	I	T90I	Benign	0	1	8	522
MUT:ENG:Trp149Cys	PROT:P17813	ENG	W	149	C	W149C	Pathogenic	1	3	8	463
MUT:ENG:Val105Asp	PROT:P17813	ENG	V	105	D	V105D	Pathogenic	1	1	8	507
MUT:ENG:Val212Met	PROT:P17813	ENG	V	212	M	V212M	Benign	0	1	8	400
MUT:ENG:Val236Met	PROT:P17813	ENG	V	236	M	V236M	Likely pathogenic	1	1	8	376
MUT:ENG:Val250Ile	PROT:P17813	ENG	V	250	I	V250I	Likely benign	0	1	8	362
MUT:ENG:Val311Gly	PROT:P17813	ENG	V	311	G	V311G	Pathogenic	1	1	8	301
MUT:ENG:Val404Ala	PROT:P17813	ENG	V	404	A	V404A	Pathogenic/Likely pathogenic	1	1	8	208
MUT:ENG:Val427Gly	PROT:P17813	ENG	V	427	G	V427G	Likely pathogenic	1	1	8	185
MUT:ENG:Val440Gly	PROT:P17813	ENG	V	440	G	V440G	Likely pathogenic	1	2	8	172
MUT:ENG:Val483Ile	PROT:P17813	ENG	V	483	I	V483I	Likely benign	0	3	8	129
MUT:ENG:Val49Asp	PROT:P17813	ENG	V	49	D	V49D	Likely pathogenic	1	2	8	563
MUT:ENG:Val49Phe	PROT:P17813	ENG	V	49	F	V49F	Pathogenic	1	2	8	563
MUT:ENG:Val504Met	PROT:P17813	ENG	V	504	M	V504M	Likely benign	0	3	8	108
MUT:ENG:Val588Ile	PROT:P17813	ENG	V	588	I	V588I	Likely benign	0	2	8	24
MUT:ENG:Val95Leu	PROT:P17813	ENG	V	95	L	V95L	Likely benign	0	1	8	517
MUT:ENO3:Ala76Pro	PROT:P13929	ENO3	A	76	P	A76P	Benign	0	2	21	4
MUT:ENO3:Arg403His	PROT:P13929	ENO3	R	403	H	R403H	Benign/Likely benign	0	1	21	3
MUT:ENO3:Asn71Ser	PROT:P13929	ENO3	N	71	S	N71S	Benign	0	1	21	1
MUT:ENO3:Cys357Tyr	PROT:P13929	ENO3	C	357	Y	C357Y	Pathogenic	1	1	21	5
MUT:ENO3:Val332Ile	PROT:P13929	ENO3	V	332	I	V332I	Benign	0	1	21	30
MUT:ENO3:Val85Ala	PROT:P13929	ENO3	V	85	A	V85A	Benign	0	1	21	2
MUT:EP300:Ala1268Ser	PROT:Q09472	EP300	A	1268	S	A1268S	Likely benign	0	1	100	40
MUT:EP300:Ala1606Val	PROT:Q09472	EP300	A	1606	V	A1606V	Likely benign	0	1	100	16
MUT:EP300:Ala171Val	PROT:Q09472	EP300	A	171	V	A171V	Benign	0	2	100	65
MUT:EP300:Ala180Thr	PROT:Q09472	EP300	A	180	T	A180T	Likely benign	0	1	100	74
MUT:EP300:Ala1892Thr	PROT:Q09472	EP300	A	1892	T	A1892T	Likely benign	0	2	100	8
MUT:EP300:Ala2138Val	PROT:Q09472	EP300	A	2138	V	A2138V	Benign/Likely benign	0	2	100	47
MUT:EP300:Ala2165Val	PROT:Q09472	EP300	A	2165	V	A2165V	Likely benign	0	1	100	54
MUT:EP300:Ala2248Val	PROT:Q09472	EP300	A	2248	V	A2248V	Benign	0	1	100	29
MUT:EP300:Ala2259Thr	PROT:Q09472	EP300	A	2259	T	A2259T	Likely benign	0	2	100	40
MUT:EP300:Ala2289Thr	PROT:Q09472	EP300	A	2289	T	A2289T	Likely benign	0	1	100	26
MUT:EP300:Ala2365Val	PROT:Q09472	EP300	A	2365	V	A2365V	Likely benign	0	1	100	1
MUT:EP300:Ala2377Thr	PROT:Q09472	EP300	A	2377	T	A2377T	Benign	0	1	100	11
MUT:EP300:Ala2388Val	PROT:Q09472	EP300	A	2388	V	A2388V	Likely benign	0	1	100	22
MUT:EP300:Ala2390Thr	PROT:Q09472	EP300	A	2390	T	A2390T	Benign/Likely benign	0	2	100	24
MUT:EP300:Ala27Val	PROT:Q09472	EP300	A	27	V	A27V	Benign	0	1	100	3
MUT:EP300:Ala357Thr	PROT:Q09472	EP300	A	357	T	A357T	Likely benign	0	1	100	7
MUT:EP300:Ala511Gly	PROT:Q09472	EP300	A	511	G	A511G	Likely benign	0	1	100	12
MUT:EP300:Ala662Thr	PROT:Q09472	EP300	A	662	T	A662T	Likely benign	0	1	100	26
MUT:EP300:Ala662Val	PROT:Q09472	EP300	A	662	V	A662V	Likely benign	0	1	100	26
MUT:EP300:Ala783Val	PROT:Q09472	EP300	A	783	V	A783V	Benign/Likely benign	0	2	100	48
MUT:EP300:Ala861Val	PROT:Q09472	EP300	A	861	V	A861V	Likely pathogenic	1	1	100	16
MUT:EP300:Ala877Thr	PROT:Q09472	EP300	A	877	T	A877T	Likely benign	0	1	100	8
MUT:EP300:Ala922Val	PROT:Q09472	EP300	A	922	V	A922V	Likely benign	0	2	100	31
MUT:EP300:Arg1137Gln	PROT:Q09472	EP300	R	1137	Q	R1137Q	Likely benign	0	2	100	7
MUT:EP300:Arg1197Trp	PROT:Q09472	EP300	R	1197	W	R1197W	Likely pathogenic	1	1	100	6
MUT:EP300:Arg1391Ser	PROT:Q09472	EP300	R	1391	S	R1391S	Likely pathogenic	1	1	100	36
MUT:EP300:Arg1627Trp	PROT:Q09472	EP300	R	1627	W	R1627W	Likely pathogenic	1	1	100	5
MUT:EP300:Arg1829Pro	PROT:Q09472	EP300	R	1829	P	R1829P	Likely pathogenic	1	1	100	5
MUT:EP300:Arg1831Ser	PROT:Q09472	EP300	R	1831	S	R1831S	Likely pathogenic	1	1	100	3
MUT:EP300:Arg1831Thr	PROT:Q09472	EP300	R	1831	T	R1831T	Likely pathogenic	1	1	100	3
MUT:EP300:Arg202Gln	PROT:Q09472	EP300	R	202	Q	R202Q	Benign	0	1	100	83
MUT:EP300:Arg2056Trp	PROT:Q09472	EP300	R	2056	W	R2056W	Likely benign	0	1	100	17
MUT:EP300:Arg2088Trp	PROT:Q09472	EP300	R	2088	W	R2088W	Likely benign	0	1	100	2
MUT:EP300:Arg2142Lys	PROT:Q09472	EP300	R	2142	K	R2142K	Likely benign	0	1	100	51
MUT:EP300:Arg2180Gln	PROT:Q09472	EP300	R	2180	Q	R2180Q	Likely benign	0	1	100	39
MUT:EP300:Arg2226Gln	PROT:Q09472	EP300	R	2226	Q	R2226Q	Likely benign	0	1	100	7
MUT:EP300:Arg2226Trp	PROT:Q09472	EP300	R	2226	W	R2226W	Likely benign	0	1	100	7
MUT:EP300:Arg2263Gln	PROT:Q09472	EP300	R	2263	Q	R2263Q	Likely benign	0	1	100	44
MUT:EP300:Arg2308Cys	PROT:Q09472	EP300	R	2308	C	R2308C	Likely benign	0	2	100	7
MUT:EP300:Arg2308His	PROT:Q09472	EP300	R	2308	H	R2308H	Likely benign	0	2	100	7
MUT:EP300:Arg568Gln	PROT:Q09472	EP300	R	568	Q	R568Q	Likely benign	0	1	100	1
MUT:EP300:Arg580Gln	PROT:Q09472	EP300	R	580	Q	R580Q	Likely pathogenic	1	1	100	11
MUT:EP300:Arg728Gln	PROT:Q09472	EP300	R	728	Q	R728Q	Likely benign	0	2	100	92
MUT:EP300:Arg86Gln	PROT:Q09472	EP300	R	86	Q	R86Q	Benign	0	2	100	3
MUT:EP300:Arg915His	PROT:Q09472	EP300	R	915	H	R915H	Benign/Likely benign	0	2	100	24
MUT:EP300:Asn1126Ser	PROT:Q09472	EP300	N	1126	S	N1126S	Likely benign	0	2	100	18
MUT:EP300:Asn1206Ser	PROT:Q09472	EP300	N	1206	S	N1206S	Likely benign	0	1	100	3
MUT:EP300:Asn1535Ser	PROT:Q09472	EP300	N	1535	S	N1535S	Likely benign	0	1	100	7
MUT:EP300:Asn1752Ser	PROT:Q09472	EP300	N	1752	S	N1752S	Likely pathogenic	1	1	100	2
MUT:EP300:Asn182Ser	PROT:Q09472	EP300	N	182	S	N182S	Likely benign	0	1	100	76
MUT:EP300:Asn2094Ser	PROT:Q09472	EP300	N	2094	S	N2094S	Likely benign	0	1	100	3
MUT:EP300:Asn217Ser	PROT:Q09472	EP300	N	217	S	N217S	Likely benign	0	3	100	68
MUT:EP300:Asn2305Ser	PROT:Q09472	EP300	N	2305	S	N2305S	Likely benign	0	1	100	10
MUT:EP300:Asn2357Ser	PROT:Q09472	EP300	N	2357	S	N2357S	Likely benign	0	1	100	9
MUT:EP300:Asn2379His	PROT:Q09472	EP300	N	2379	H	N2379H	Benign	0	2	100	13
MUT:EP300:Asn2405Asp	PROT:Q09472	EP300	N	2405	D	N2405D	Benign/Likely benign	0	1	100	39
MUT:EP300:Asn251Ser	PROT:Q09472	EP300	N	251	S	N251S	Benign/Likely benign	0	2	100	34
MUT:EP300:Asn301Ser	PROT:Q09472	EP300	N	301	S	N301S	Likely benign	0	1	100	9
MUT:EP300:Asn439Ser	PROT:Q09472	EP300	N	439	S	N439S	Likely benign	0	1	100	60
MUT:EP300:Asn452Ser	PROT:Q09472	EP300	N	452	S	N452S	Likely benign	0	1	100	47
MUT:EP300:Asn493Ser	PROT:Q09472	EP300	N	493	S	N493S	Likely benign	0	2	100	6
MUT:EP300:Asn625Ser	PROT:Q09472	EP300	N	625	S	N625S	Likely benign	0	1	100	4
MUT:EP300:Asn760Ser	PROT:Q09472	EP300	N	760	S	N760S	Likely benign	0	2	100	71
MUT:EP300:Asn779Ser	PROT:Q09472	EP300	N	779	S	N779S	Likely benign	0	1	100	52
MUT:EP300:Asp1119Asn	PROT:Q09472	EP300	D	1119	N	D1119N	Likely benign	0	2	100	14
MUT:EP300:Asp1507Glu	PROT:Q09472	EP300	D	1507	E	D1507E	Likely pathogenic	1	1	100	8
MUT:EP300:Asp2392Asn	PROT:Q09472	EP300	D	2392	N	D2392N	Benign	0	1	100	26
MUT:EP300:Asp2398Asn	PROT:Q09472	EP300	D	2398	N	D2398N	Benign	0	1	100	32
MUT:EP300:Asp2401Gly	PROT:Q09472	EP300	D	2401	G	D2401G	Likely benign	0	1	100	35
MUT:EP300:Cys1250Tyr	PROT:Q09472	EP300	C	1250	Y	C1250Y	Likely pathogenic	1	1	100	22
MUT:EP300:Cys1683Arg	PROT:Q09472	EP300	C	1683	R	C1683R	Likely pathogenic	1	1	100	16
MUT:EP300:Gln1824Pro	PROT:Q09472	EP300	Q	1824	P	Q1824P	Likely pathogenic	1	1	100	10
MUT:EP300:Gln1915His	PROT:Q09472	EP300	Q	1915	H	Q1915H	Likely benign	0	1	100	6
MUT:EP300:Gln2155Leu	PROT:Q09472	EP300	Q	2155	L	Q2155L	Likely benign	0	1	100	64
MUT:EP300:Gln2223Pro	PROT:Q09472	EP300	Q	2223	P	Q2223P	Benign	0	1	100	4
MUT:EP300:Gln2241His	PROT:Q09472	EP300	Q	2241	H	Q2241H	Likely benign	0	1	100	22
MUT:EP300:Gln2274Lys	PROT:Q09472	EP300	Q	2274	K	Q2274K	Likely benign	0	1	100	41
MUT:EP300:Gln2288Arg	PROT:Q09472	EP300	Q	2288	R	Q2288R	Benign/Likely benign	0	2	100	27
MUT:EP300:Gln2306Arg	PROT:Q09472	EP300	Q	2306	R	Q2306R	Benign/Likely benign	0	2	100	9
MUT:EP300:Gln2369Arg	PROT:Q09472	EP300	Q	2369	R	Q2369R	Benign	0	1	100	3
MUT:EP300:Gln483His	PROT:Q09472	EP300	Q	483	H	Q483H	Benign	0	2	100	16
MUT:EP300:Gln641Lys	PROT:Q09472	EP300	Q	641	K	Q641K	Likely pathogenic	1	1	100	5
MUT:EP300:Gln72Lys	PROT:Q09472	EP300	Q	72	K	Q72K	Likely benign	0	3	100	17
MUT:EP300:Gln874His	PROT:Q09472	EP300	Q	874	H	Q874H	Benign	0	1	100	11
MUT:EP300:Gln912His	PROT:Q09472	EP300	Q	912	H	Q912H	Benign	0	1	100	21
MUT:EP300:Gln918His	PROT:Q09472	EP300	Q	918	H	Q918H	Benign/Likely benign	0	1	100	27
MUT:EP300:Glu1011Lys	PROT:Q09472	EP300	E	1011	K	E1011K	Likely benign	0	2	100	9
MUT:EP300:Glu1013Gly	PROT:Q09472	EP300	E	1013	G	E1013G	Likely benign	0	1	100	7
MUT:EP300:Gly101Asp	PROT:Q09472	EP300	G	101	D	G101D	Likely benign	0	1	100	5
MUT:EP300:Gly116Ser	PROT:Q09472	EP300	G	116	S	G116S	Likely benign	0	1	100	10
MUT:EP300:Gly1251Arg	PROT:Q09472	EP300	G	1251	R	G1251R	Likely benign	0	2	100	23
MUT:EP300:Gly1375Val	PROT:Q09472	EP300	G	1375	V	G1375V	Likely pathogenic	1	1	100	35
MUT:EP300:Gly137Ala	PROT:Q09472	EP300	G	137	A	G137A	Benign	0	1	100	31
MUT:EP300:Gly1543Val	PROT:Q09472	EP300	G	1543	V	G1543V	Likely benign	0	1	100	1
MUT:EP300:Gly211Ser	PROT:Q09472	EP300	G	211	S	G211S	Benign	0	2	100	74
MUT:EP300:Gly2198Arg	PROT:Q09472	EP300	G	2198	R	G2198R	Likely benign	0	2	100	21
MUT:EP300:Gly226Cys	PROT:Q09472	EP300	G	226	C	G226C	Likely benign	0	1	100	59
MUT:EP300:Gly238Asp	PROT:Q09472	EP300	G	238	D	G238D	Benign/Likely benign	0	2	100	47
MUT:EP300:Gly266Val	PROT:Q09472	EP300	G	266	V	G266V	Likely benign	0	1	100	19
MUT:EP300:Gly69Asp	PROT:Q09472	EP300	G	69	D	G69D	Benign	0	1	100	20
MUT:EP300:Gly762Asp	PROT:Q09472	EP300	G	762	D	G762D	Likely benign	0	2	100	69
MUT:EP300:Gly787Ser	PROT:Q09472	EP300	G	787	S	G787S	Benign/Likely benign	0	1	100	44
MUT:EP300:Gly96Glu	PROT:Q09472	EP300	G	96	E	G96E	Benign	0	1	100	7
MUT:EP300:His1451Tyr	PROT:Q09472	EP300	H	1451	Y	H1451Y	Likely pathogenic	1	1	100	22
MUT:EP300:His2172Gln	PROT:Q09472	EP300	H	2172	Q	H2172Q	Likely benign	0	2	100	47
MUT:EP300:His2172Leu	PROT:Q09472	EP300	H	2172	L	H2172L	Likely benign	0	1	100	47
MUT:EP300:His2324Asn	PROT:Q09472	EP300	H	2324	N	H2324N	Likely benign	0	2	100	4
MUT:EP300:His2338Arg	PROT:Q09472	EP300	H	2338	R	H2338R	Benign/Likely benign	0	1	100	18
MUT:EP300:His2339Tyr	PROT:Q09472	EP300	H	2339	Y	H2339Y	Likely benign	0	2	100	19
MUT:EP300:His2348Arg	PROT:Q09472	EP300	H	2348	R	H2348R	Likely benign	0	1	100	18
MUT:EP300:His879Pro	PROT:Q09472	EP300	H	879	P	H879P	Likely benign	0	1	100	6
MUT:EP300:Ile1264Leu	PROT:Q09472	EP300	I	1264	L	I1264L	Likely benign	0	1	100	36
MUT:EP300:Ile1952Val	PROT:Q09472	EP300	I	1952	V	I1952V	Likely benign	0	1	100	8
MUT:EP300:Ile196Thr	PROT:Q09472	EP300	I	196	T	I196T	Likely benign	0	1	100	89
MUT:EP300:Ile859Thr	PROT:Q09472	EP300	I	859	T	I859T	Benign	0	1	100	14
MUT:EP300:Ile859Val	PROT:Q09472	EP300	I	859	V	I859V	Likely benign	0	1	100	14
MUT:EP300:Ile967Ser	PROT:Q09472	EP300	I	967	S	I967S	Likely benign	0	2	100	3
MUT:EP300:Ile997Val	PROT:Q09472	EP300	I	997	V	I997V	Benign	0	2	100	16
MUT:EP300:Leu1520Val	PROT:Q09472	EP300	L	1520	V	L1520V	Likely benign	0	1	100	2
MUT:EP300:Leu1563Val	PROT:Q09472	EP300	L	1563	V	L1563V	Benign	0	2	100	3
MUT:EP300:Leu1600Val	PROT:Q09472	EP300	L	1600	V	L1600V	Benign	0	2	100	10
MUT:EP300:Leu1631Arg	PROT:Q09472	EP300	L	1631	R	L1631R	Likely pathogenic	1	1	100	1
MUT:EP300:Leu1633Arg	PROT:Q09472	EP300	L	1633	R	L1633R	Likely pathogenic	1	1	100	1
MUT:EP300:Leu18Val	PROT:Q09472	EP300	L	18	V	L18V	Likely benign	0	1	100	1
MUT:EP300:Leu223Val	PROT:Q09472	EP300	L	223	V	L223V	Likely benign	0	2	100	62
MUT:EP300:Leu2303Val	PROT:Q09472	EP300	L	2303	V	L2303V	Likely benign	0	1	100	12
MUT:EP300:Leu2393Val	PROT:Q09472	EP300	L	2393	V	L2393V	Likely benign	0	2	100	27
MUT:EP300:Leu2406Phe	PROT:Q09472	EP300	L	2406	F	L2406F	Benign	0	1	100	40
MUT:EP300:Leu270Arg	PROT:Q09472	EP300	L	270	R	L270R	Benign	0	1	100	15
MUT:EP300:Leu280Pro	PROT:Q09472	EP300	L	280	P	L280P	Likely benign	0	1	100	5
MUT:EP300:Leu658Ile	PROT:Q09472	EP300	L	658	I	L658I	Benign/Likely benign	0	2	100	22
MUT:EP300:Lys1001Asn	PROT:Q09472	EP300	K	1001	N	K1001N	Likely benign	0	1	100	19
MUT:EP300:Lys1235Arg	PROT:Q09472	EP300	K	1235	R	K1235R	Likely benign	0	2	100	7
MUT:EP300:Lys1542Glu	PROT:Q09472	EP300	K	1542	E	K1542E	Likely benign	0	2	100	0
MUT:EP300:Lys2042Gln	PROT:Q09472	EP300	K	2042	Q	K2042Q	Likely benign	0	1	100	3
MUT:EP300:Met126Val	PROT:Q09472	EP300	M	126	V	M126V	Benign/Likely benign	0	2	100	20
MUT:EP300:Met153Val	PROT:Q09472	EP300	M	153	V	M153V	Likely benign	0	1	100	47
MUT:EP300:Met1588Thr	PROT:Q09472	EP300	M	1588	T	M1588T	Pathogenic/Likely pathogenic	1	1	100	2
MUT:EP300:Met1928Ile	PROT:Q09472	EP300	M	1928	I	M1928I	Benign/Likely benign	0	2	100	19
MUT:EP300:Met1989Ile	PROT:Q09472	EP300	M	1989	I	M1989I	Likely benign	0	1	100	29
MUT:EP300:Met2015Val	PROT:Q09472	EP300	M	2015	V	M2015V	Benign	0	1	100	24
MUT:EP300:Met2016Val	PROT:Q09472	EP300	M	2016	V	M2016V	Likely benign	0	1	100	23
MUT:EP300:Met205Ile	PROT:Q09472	EP300	M	205	I	M205I	Benign	0	1	100	80
MUT:EP300:Met205Val	PROT:Q09472	EP300	M	205	V	M205V	Likely benign	0	1	100	80
MUT:EP300:Met2118Val	PROT:Q09472	EP300	M	2118	V	M2118V	Benign/Likely benign	0	2	100	27
MUT:EP300:Met2130Ile	PROT:Q09472	EP300	M	2130	I	M2130I	Benign/Likely benign	0	2	100	39
MUT:EP300:Met2133Thr	PROT:Q09472	EP300	M	2133	T	M2133T	Likely benign	0	2	100	42
MUT:EP300:Met2136Val	PROT:Q09472	EP300	M	2136	V	M2136V	Likely benign	0	2	100	45
MUT:EP300:Met2161Val	PROT:Q09472	EP300	M	2161	V	M2161V	Benign/Likely benign	0	2	100	58
MUT:EP300:Met2168Ile	PROT:Q09472	EP300	M	2168	I	M2168I	Likely benign	0	2	100	51
MUT:EP300:Met2170Val	PROT:Q09472	EP300	M	2170	V	M2170V	Likely benign	0	2	100	49
MUT:EP300:Met2227Ile	PROT:Q09472	EP300	M	2227	I	M2227I	Likely benign	0	1	100	8
MUT:EP300:Met2239Thr	PROT:Q09472	EP300	M	2239	T	M2239T	Likely benign	0	2	100	20
MUT:EP300:Met289Val	PROT:Q09472	EP300	M	289	V	M289V	Benign/Likely benign	0	2	100	2
MUT:EP300:Met299Val	PROT:Q09472	EP300	M	299	V	M299V	Likely benign	0	1	100	7
MUT:EP300:Met514Thr	PROT:Q09472	EP300	M	514	T	M514T	Likely benign	0	1	100	15
MUT:EP300:Met532Val	PROT:Q09472	EP300	M	532	V	M532V	Likely benign	0	1	100	33
MUT:EP300:Met543Val	PROT:Q09472	EP300	M	543	V	M543V	Likely benign	0	1	100	26
MUT:EP300:Met556Val	PROT:Q09472	EP300	M	556	V	M556V	Likely benign	0	2	100	13
MUT:EP300:Met657Ile	PROT:Q09472	EP300	M	657	I	M657I	Likely benign	0	1	100	21
MUT:EP300:Met664Val	PROT:Q09472	EP300	M	664	V	M664V	Benign	0	1	100	28
MUT:EP300:Met693Val	PROT:Q09472	EP300	M	693	V	M693V	Benign/Likely benign	0	2	100	57
MUT:EP300:Met749Val	PROT:Q09472	EP300	M	749	V	M749V	Likely benign	0	2	100	82
MUT:EP300:Met95Val	PROT:Q09472	EP300	M	95	V	M95V	Likely benign	0	1	100	6
MUT:EP300:Phe1504Cys	PROT:Q09472	EP300	F	1504	C	F1504C	Pathogenic	1	1	100	5
MUT:EP300:Phe1595Ile	PROT:Q09472	EP300	F	1595	I	F1595I	Pathogenic	1	1	100	5
MUT:EP300:Phe1595Val	PROT:Q09472	EP300	F	1595	V	F1595V	Pathogenic/Likely pathogenic	1	3	100	5
MUT:EP300:Pro1039Leu	PROT:Q09472	EP300	P	1039	L	P1039L	Benign/Likely benign	0	1	100	1
MUT:EP300:Pro10Arg	PROT:Q09472	EP300	P	10	R	P10R	Likely benign	0	1	100	2
MUT:EP300:Pro113Leu	PROT:Q09472	EP300	P	113	L	P113L	Likely benign	0	1	100	7
MUT:EP300:Pro1440Thr	PROT:Q09472	EP300	P	1440	T	P1440T	Likely pathogenic	1	1	100	13
MUT:EP300:Pro157Thr	PROT:Q09472	EP300	P	157	T	P157T	Benign/Likely benign	0	1	100	51
MUT:EP300:Pro1610Ser	PROT:Q09472	EP300	P	1610	S	P1610S	Likely benign	0	1	100	20
MUT:EP300:Pro175Leu	PROT:Q09472	EP300	P	175	L	P175L	Benign	0	1	100	69
MUT:EP300:Pro1875Ser	PROT:Q09472	EP300	P	1875	S	P1875S	Likely benign	0	1	100	16
MUT:EP300:Pro1958Leu	PROT:Q09472	EP300	P	1958	L	P1958L	Benign	0	2	100	2
MUT:EP300:Pro1971Ser	PROT:Q09472	EP300	P	1971	S	P1971S	Benign/Likely benign	0	1	100	11
MUT:EP300:Pro1986Gln	PROT:Q09472	EP300	P	1986	Q	P1986Q	Likely benign	0	1	100	26
MUT:EP300:Pro2003Thr	PROT:Q09472	EP300	P	2003	T	P2003T	Benign	0	2	100	36
MUT:EP300:Pro2013Leu	PROT:Q09472	EP300	P	2013	L	P2013L	Likely benign	0	1	100	26
MUT:EP300:Pro2043Gln	PROT:Q09472	EP300	P	2043	Q	P2043Q	Likely benign	0	1	100	4
MUT:EP300:Pro2097Ala	PROT:Q09472	EP300	P	2097	A	P2097A	Likely benign	0	2	100	6
MUT:EP300:Pro2104Arg	PROT:Q09472	EP300	P	2104	R	P2104R	Likely benign	0	2	100	13
MUT:EP300:Pro2128Ala	PROT:Q09472	EP300	P	2128	A	P2128A	Benign/Likely benign	0	2	100	37
MUT:EP300:Pro2163Leu	PROT:Q09472	EP300	P	2163	L	P2163L	Likely benign	0	1	100	56
MUT:EP300:Pro2214Leu	PROT:Q09472	EP300	P	2214	L	P2214L	Benign	0	2	100	5
MUT:EP300:Pro2220Arg	PROT:Q09472	EP300	P	2220	R	P2220R	Benign/Likely benign	0	2	100	1
MUT:EP300:Pro2221Gln	PROT:Q09472	EP300	P	2221	Q	P2221Q	Pathogenic	1	1	100	2
MUT:EP300:Pro2292Ala	PROT:Q09472	EP300	P	2292	A	P2292A	Benign/Likely benign	0	2	100	23
MUT:EP300:Pro2312Ser	PROT:Q09472	EP300	P	2312	S	P2312S	Benign/Likely benign	0	2	100	3
MUT:EP300:Pro2380Leu	PROT:Q09472	EP300	P	2380	L	P2380L	Benign/Likely benign	0	2	100	14
MUT:EP300:Pro239Ala	PROT:Q09472	EP300	P	239	A	P239A	Likely benign	0	1	100	46
MUT:EP300:Pro261Ser	PROT:Q09472	EP300	P	261	S	P261S	Likely benign	0	3	100	24
MUT:EP300:Pro308Leu	PROT:Q09472	EP300	P	308	L	P308L	Benign/Likely benign	0	2	100	9
MUT:EP300:Pro318Ala	PROT:Q09472	EP300	P	318	A	P318A	Benign/Likely benign	0	2	100	1
MUT:EP300:Pro451Ala	PROT:Q09472	EP300	P	451	A	P451A	Likely benign	0	2	100	48
MUT:EP300:Pro451Ser	PROT:Q09472	EP300	P	451	S	P451S	Likely benign	0	1	100	48
MUT:EP300:Pro551Ala	PROT:Q09472	EP300	P	551	A	P551A	Likely benign	0	1	100	18
MUT:EP300:Pro704Ser	PROT:Q09472	EP300	P	704	S	P704S	Benign/Likely benign	0	2	100	68
MUT:EP300:Pro731Ala	PROT:Q09472	EP300	P	731	A	P731A	Likely benign	0	1	100	95
MUT:EP300:Pro747Leu	PROT:Q09472	EP300	P	747	L	P747L	Benign/Likely benign	0	1	100	84
MUT:EP300:Pro748Leu	PROT:Q09472	EP300	P	748	L	P748L	Likely benign	0	1	100	83
MUT:EP300:Pro784Leu	PROT:Q09472	EP300	P	784	L	P784L	Benign/Likely benign	0	3	100	47
MUT:EP300:Pro802Leu	PROT:Q09472	EP300	P	802	L	P802L	Benign	0	2	100	29
MUT:EP300:Pro846Leu	PROT:Q09472	EP300	P	846	L	P846L	Likely benign	0	1	100	1
MUT:EP300:Pro870Leu	PROT:Q09472	EP300	P	870	L	P870L	Benign/Likely benign	0	2	100	15
MUT:EP300:Pro873Ala	PROT:Q09472	EP300	P	873	A	P873A	Likely benign	0	1	100	12
MUT:EP300:Pro882Arg	PROT:Q09472	EP300	P	882	R	P882R	Benign/Likely benign	0	2	100	3
MUT:EP300:Pro886Ser	PROT:Q09472	EP300	P	886	S	P886S	Benign/Likely benign	0	2	100	1
MUT:EP300:Pro8Leu	PROT:Q09472	EP300	P	8	L	P8L	Likely benign	0	1	100	4
MUT:EP300:Pro91Ser	PROT:Q09472	EP300	P	91	S	P91S	Benign	0	2	100	2
MUT:EP300:Pro925Thr	PROT:Q09472	EP300	P	925	T	P925T	Benign/Likely benign	0	2	100	34
MUT:EP300:Pro934Leu	PROT:Q09472	EP300	P	934	L	P934L	Benign/Likely benign	0	2	100	36
MUT:EP300:Pro972Leu	PROT:Q09472	EP300	P	972	L	P972L	Benign	0	1	100	2
MUT:EP300:Pro994Leu	PROT:Q09472	EP300	P	994	L	P994L	Benign	0	2	100	13
MUT:EP300:Ser106Gly	PROT:Q09472	EP300	S	106	G	S106G	Benign/Likely benign	0	2	100	0
MUT:EP300:Ser120Asn	PROT:Q09472	EP300	S	120	N	S120N	Likely benign	0	1	100	14
MUT:EP300:Ser150Pro	PROT:Q09472	EP300	S	150	P	S150P	Likely benign	0	2	100	44
MUT:EP300:Ser1537Arg	PROT:Q09472	EP300	S	1537	R	S1537R	Likely benign	0	1	100	5
MUT:EP300:Ser1716Thr	PROT:Q09472	EP300	S	1716	T	S1716T	Benign/Likely benign	0	2	100	17
MUT:EP300:Ser1882Gly	PROT:Q09472	EP300	S	1882	G	S1882G	Benign	0	1	100	18
MUT:EP300:Ser1996Thr	PROT:Q09472	EP300	S	1996	T	S1996T	Likely benign	0	1	100	36
MUT:EP300:Ser2017Ala	PROT:Q09472	EP300	S	2017	A	S2017A	Likely benign	0	1	100	22
MUT:EP300:Ser2062Thr	PROT:Q09472	EP300	S	2062	T	S2062T	Likely benign	0	2	100	23
MUT:EP300:Ser227Phe	PROT:Q09472	EP300	S	227	F	S227F	Likely benign	0	1	100	58
MUT:EP300:Ser2328Pro	PROT:Q09472	EP300	S	2328	P	S2328P	Likely benign	0	2	100	8
MUT:EP300:Ser2371Leu	PROT:Q09472	EP300	S	2371	L	S2371L	Benign/Likely benign	0	1	100	5
MUT:EP300:Ser2371Thr	PROT:Q09472	EP300	S	2371	T	S2371T	Likely pathogenic	1	1	100	5
MUT:EP300:Ser2374Ala	PROT:Q09472	EP300	S	2374	A	S2374A	Benign	0	1	100	8
MUT:EP300:Ser2396Gly	PROT:Q09472	EP300	S	2396	G	S2396G	Benign/Likely benign	0	1	100	30
MUT:EP300:Ser255Leu	PROT:Q09472	EP300	S	255	L	S255L	Likely benign	0	1	100	30
MUT:EP300:Ser285Pro	PROT:Q09472	EP300	S	285	P	S285P	Benign	0	2	100	0
MUT:EP300:Ser384Ala	PROT:Q09472	EP300	S	384	A	S384A	Benign/Likely benign	0	2	100	34
MUT:EP300:Ser507Gly	PROT:Q09472	EP300	S	507	G	S507G	Benign/Likely benign	0	2	100	8
MUT:EP300:Ser529Pro	PROT:Q09472	EP300	S	529	P	S529P	Likely benign	0	2	100	30
MUT:EP300:Ser545Arg	PROT:Q09472	EP300	S	545	R	S545R	Likely benign	0	1	100	24
MUT:EP300:Ser545Asn	PROT:Q09472	EP300	S	545	N	S545N	Benign	0	1	100	24
MUT:EP300:Ser622Cys	PROT:Q09472	EP300	S	622	C	S622C	Likely benign	0	1	100	2
MUT:EP300:Ser697Arg	PROT:Q09472	EP300	S	697	R	S697R	Benign/Likely benign	0	3	100	61
MUT:EP300:Ser798Asn	PROT:Q09472	EP300	S	798	N	S798N	Benign/Likely benign	0	2	100	33
MUT:EP300:Ser800Ala	PROT:Q09472	EP300	S	800	A	S800A	Benign	0	1	100	31
MUT:EP300:Ser916Thr	PROT:Q09472	EP300	S	916	T	S916T	Benign	0	1	100	25
MUT:EP300:Ser919Asn	PROT:Q09472	EP300	S	919	N	S919N	Benign/Likely benign	0	2	100	28
MUT:EP300:Ser973Ala	PROT:Q09472	EP300	S	973	A	S973A	Likely benign	0	1	100	3
MUT:EP300:Thr1061Ala	PROT:Q09472	EP300	T	1061	A	T1061A	Likely benign	0	1	100	14
MUT:EP300:Thr132Ser	PROT:Q09472	EP300	T	132	S	T132S	Likely benign	0	2	100	26
MUT:EP300:Thr1411Ile	PROT:Q09472	EP300	T	1411	I	T1411I	Likely pathogenic	1	1	100	16
MUT:EP300:Thr148Ala	PROT:Q09472	EP300	T	148	A	T148A	Likely benign	0	1	100	42
MUT:EP300:Thr148Met	PROT:Q09472	EP300	T	148	M	T148M	Benign/Likely benign	0	1	100	42
MUT:EP300:Thr1856Met	PROT:Q09472	EP300	T	1856	M	T1856M	Likely benign	0	2	100	1
MUT:EP300:Thr1868Met	PROT:Q09472	EP300	T	1868	M	T1868M	Likely benign	0	1	100	9
MUT:EP300:Thr1890Ile	PROT:Q09472	EP300	T	1890	I	T1890I	Likely benign	0	1	100	10
MUT:EP300:Thr1890Ser	PROT:Q09472	EP300	T	1890	S	T1890S	Benign/Likely benign	0	2	100	10
MUT:EP300:Thr1913Pro	PROT:Q09472	EP300	T	1913	P	T1913P	Benign	0	1	100	4
MUT:EP300:Thr371Ala	PROT:Q09472	EP300	T	371	A	T371A	Likely pathogenic	1	1	100	21
MUT:EP300:Thr558Ala	PROT:Q09472	EP300	T	558	A	T558A	Likely benign	0	1	100	11
MUT:EP300:Thr564Ala	PROT:Q09472	EP300	T	564	A	T564A	Likely benign	0	1	100	5
MUT:EP300:Thr845Ile	PROT:Q09472	EP300	T	845	I	T845I	Likely benign	0	1	100	0
MUT:EP300:Thr845Ser	PROT:Q09472	EP300	T	845	S	T845S	Benign/Likely benign	0	2	100	0
MUT:EP300:Thr858Ala	PROT:Q09472	EP300	T	858	A	T858A	Benign/Likely benign	0	2	100	13
MUT:EP300:Thr858Ile	PROT:Q09472	EP300	T	858	I	T858I	Benign	0	1	100	13
MUT:EP300:Thr887Ile	PROT:Q09472	EP300	T	887	I	T887I	Pathogenic/Likely pathogenic	1	1	100	0
MUT:EP300:Thr890Pro	PROT:Q09472	EP300	T	890	P	T890P	Likely benign	0	2	100	1
MUT:EP300:Thr891Pro	PROT:Q09472	EP300	T	891	P	T891P	Benign/Likely benign	0	2	100	0
MUT:EP300:Thr992Ala	PROT:Q09472	EP300	T	992	A	T992A	Likely benign	0	1	100	11
MUT:EP300:Trp1995Cys	PROT:Q09472	EP300	W	1995	C	W1995C	Likely benign	0	1	100	35
MUT:EP300:Tyr1446Cys	PROT:Q09472	EP300	Y	1446	C	Y1446C	Likely pathogenic	1	1	100	19
MUT:EP300:Tyr253His	PROT:Q09472	EP300	Y	253	H	Y253H	Likely benign	0	1	100	32
MUT:EP300:Tyr257Cys	PROT:Q09472	EP300	Y	257	C	Y257C	Likely benign	0	1	100	28
MUT:EP300:Tyr468Cys	PROT:Q09472	EP300	Y	468	C	Y468C	Likely benign	0	1	100	31
MUT:EP300:Val1118Ile	PROT:Q09472	EP300	V	1118	I	V1118I	Likely benign	0	2	100	13
MUT:EP300:Val1271Ile	PROT:Q09472	EP300	V	1271	I	V1271I	Benign	0	1	100	43
MUT:EP300:Val2140Ile	PROT:Q09472	EP300	V	2140	I	V2140I	Benign	0	2	100	49
MUT:EP300:Val2307Gly	PROT:Q09472	EP300	V	2307	G	V2307G	Likely benign	0	2	100	8
MUT:EP300:Val2340Ile	PROT:Q09472	EP300	V	2340	I	V2340I	Benign/Likely benign	0	2	100	20
MUT:EP300:Val319Ile	PROT:Q09472	EP300	V	319	I	V319I	Benign/Likely benign	0	2	100	2
MUT:EP300:Val863Leu	PROT:Q09472	EP300	V	863	L	V863L	Likely benign	0	1	100	18
MUT:EP300:Val897Ala	PROT:Q09472	EP300	V	897	A	V897A	Likely benign	0	1	100	6
MUT:EPB41:Arg700Gln	PROT:P11171	EPB41	R	700	Q	R700Q	Likely benign	0	1	33	11
MUT:EPB41:Leu575Pro	PROT:P11171	EPB41	L	575	P	L575P	Likely benign	0	1	33	35
MUT:EPB41:Met210Arg	PROT:P11171	EPB41	M	210	R	M210R	Pathogenic	1	1	33	12
MUT:EPB41:Met210Thr	PROT:P11171	EPB41	M	210	T	M210T	Pathogenic	1	1	33	12
MUT:EPB41:Pro291Ser	PROT:P11171	EPB41	P	291	S	P291S	Benign/Likely benign	0	1	33	69
MUT:EPB41:Thr301Arg	PROT:P11171	EPB41	T	301	R	T301R	Likely pathogenic	1	1	33	60
MUT:EPB41:Val214Ile	PROT:P11171	EPB41	V	214	I	V214I	Benign	0	1	33	8
MUT:EPB41L1:Arg534Trp	PROT:Q9H4G0	EPB41L1	R	534	W	R534W	Likely benign	0	1	42	6
MUT:EPB41L1:Arg638Cys	PROT:Q9H4G0	EPB41L1	R	638	C	R638C	Likely pathogenic	1	1	42	1
MUT:EPB41L1:Arg645Gln	PROT:Q9H4G0	EPB41L1	R	645	Q	R645Q	Benign/Likely benign	0	1	42	3
MUT:EPB41L1:Lys548Arg	PROT:Q9H4G0	EPB41L1	K	548	R	K548R	Benign/Likely benign	0	8	42	2
MUT:EPB41L1:Pro484Leu	PROT:Q9H4G0	EPB41L1	P	484	L	P484L	Likely benign	0	1	42	7
MUT:EPB41L1:Ser650Leu	PROT:Q9H4G0	EPB41L1	S	650	L	S650L	Likely benign	0	1	42	0
MUT:EPB41L1:Val442Asp	PROT:Q9H4G0	EPB41L1	V	442	D	V442D	Likely benign	0	1	42	1
MUT:EPB41L5:Gln654Leu	PROT:Q9HCM4	EPB41L5	Q	654	L	Q654L	Benign/Likely benign	0	14	14	137
MUT:EPB42:Ala176Glu	PROT:P16452	EPB42	A	176	E	A176E	Likely benign	0	1	3	72
MUT:EPB42:Arg310Gln	PROT:P16452	EPB42	R	310	Q	R310Q	Likely pathogenic	1	1	3	19
MUT:EPB42:Arg50His	PROT:P16452	EPB42	R	50	H	R50H	Likely benign	0	1	3	198
MUT:EPB42:Asp145Tyr	PROT:P16452	EPB42	D	145	Y	D145Y	Pathogenic	1	1	3	103
MUT:EPB42:Glu452Lys	PROT:P16452	EPB42	E	452	K	E452K	Likely benign	0	1	3	161
MUT:EPB42:His350Tyr	PROT:P16452	EPB42	H	350	Y	H350Y	Likely benign	0	1	3	59
MUT:EPB42:His517Tyr	PROT:P16452	EPB42	H	517	Y	H517Y	Likely benign	0	1	3	173
MUT:EPB42:Thr108Ile	PROT:P16452	EPB42	T	108	I	T108I	Likely pathogenic	1	1	3	140
MUT:EPB42:Val278Leu	PROT:P16452	EPB42	V	278	L	V278L	Likely pathogenic	1	1	3	13
MUT:EPCAM:Ala152Thr	PROT:P16422	EPCAM	A	152	T	A152T	Likely benign	0	1	6	16
MUT:EPCAM:Ala256Pro	PROT:P16422	EPCAM	A	256	P	A256P	Likely benign	0	1	6	38
MUT:EPCAM:Ala2Val	PROT:P16422	EPCAM	A	2	V	A2V	Benign/Likely benign	0	2	6	166
MUT:EPCAM:Ala64Ser	PROT:P16422	EPCAM	A	64	S	A64S	Likely benign	0	1	6	104
MUT:EPCAM:Arg153Thr	PROT:P16422	EPCAM	R	153	T	R153T	Benign/Likely benign	0	3	6	15
MUT:EPCAM:Asn189Asp	PROT:P16422	EPCAM	N	189	D	N189D	Likely benign	0	1	6	21
MUT:EPCAM:Asn31Lys	PROT:P16422	EPCAM	N	31	K	N31K	Likely benign	0	2	6	137
MUT:EPCAM:Cys66Tyr	PROT:P16422	EPCAM	C	66	Y	C66Y	Pathogenic	1	1	6	102
MUT:EPCAM:Gly222Asp	PROT:P16422	EPCAM	G	222	D	G222D	Likely benign	0	1	6	4
MUT:EPCAM:Ile277Met	PROT:P16422	EPCAM	I	277	M	I277M	Benign/Likely benign	0	2	6	22
MUT:EPCAM:Leu88Ile	PROT:P16422	EPCAM	L	88	I	L88I	Likely benign	0	1	6	80
MUT:EPCAM:Met115Thr	PROT:P16422	EPCAM	M	115	T	M115T	Benign	0	4	6	53
MUT:EPCAM:Met1Ile	PROT:P16422	EPCAM	M	1	I	M1I	Pathogenic	1	1	6	167
MUT:EPCAM:Met1Val	PROT:P16422	EPCAM	M	1	V	M1V	Likely pathogenic	1	3	6	167
MUT:EPCAM:Met308Ile	PROT:P16422	EPCAM	M	308	I	M308I	Likely benign	0	1	6	5
MUT:EPCAM:Ser159Gly	PROT:P16422	EPCAM	S	159	G	S159G	Likely benign	0	1	6	9
MUT:EPCAM:Ser183Asn	PROT:P16422	EPCAM	S	183	N	S183N	Likely benign	0	1	6	15
MUT:EPCAM:Thr172Met	PROT:P16422	EPCAM	T	172	M	T172M	Benign	0	2	6	4
MUT:EPCAM:Thr17Lys	PROT:P16422	EPCAM	T	17	K	T17K	Benign	0	2	6	151
MUT:EPCAM:Thr56Ser	PROT:P16422	EPCAM	T	56	S	T56S	Likely benign	0	1	6	112
MUT:EPCAM:Val268Ile	PROT:P16422	EPCAM	V	268	I	V268I	Likely benign	0	1	6	31
MUT:EPCAM:Val28Ile	PROT:P16422	EPCAM	V	28	I	V28I	Likely benign	0	1	6	140
MUT:EPCAM:Val36Ile	PROT:P16422	EPCAM	V	36	I	V36I	Benign	0	1	6	132
MUT:EPCAM:Val40Met	PROT:P16422	EPCAM	V	40	M	V40M	Likely benign	0	1	6	128
MUT:EPCAM:Val51Ile	PROT:P16422	EPCAM	V	51	I	V51I	Likely benign	0	1	6	117
MUT:EPHA3:Glu298Gln	PROT:P29320	EPHA3	E	298	Q	E298Q	Likely benign	0	1	18	134
MUT:EPHA3:Lys713Thr	PROT:P29320	EPHA3	K	713	T	K713T	Likely benign	0	1	18	12
MUT:EPHA3:Phe801Tyr	PROT:P29320	EPHA3	F	801	Y	F801Y	Likely benign	0	1	18	22
MUT:EPHA4:Ala748Thr	PROT:P54764	EPHA4	A	748	T	A748T	Likely pathogenic	1	1	5	13
MUT:EPHA4:Asn899Lys	PROT:P54764	EPHA4	N	899	K	N899K	Benign	0	2	5	12
MUT:EPHA4:Gly383Glu	PROT:P54764	EPHA4	G	383	E	G383E	Benign	0	1	5	218
MUT:EPHX1:Asn256Lys	PROT:P07099	EPHX1	N	256	K	N256K	Likely benign	0	1	22	27
MUT:EPHX1:Gly84Asp	PROT:P07099	EPHX1	G	84	D	G84D	Likely pathogenic	1	1	22	7
MUT:EPHX1:His139Arg	PROT:P07099	EPHX1	H	139	R	H139R	Benign	0	1	22	8
MUT:EPHX1:Tyr113His	PROT:P07099	EPHX1	Y	113	H	Y113H	Benign	0	2	22	8
MUT:EPOR:Ala190Ser	PROT:P19235	EPOR	A	190	S	A190S	Benign	0	1	7	119
MUT:EPOR:Ala476Val	PROT:P19235	EPOR	A	476	V	A476V	Benign	0	1	7	8
MUT:EPOR:Asn487Ser	PROT:P19235	EPOR	N	487	S	N487S	Benign/Likely benign	0	1	7	2
MUT:EPOR:Asp482Asn	PROT:P19235	EPOR	D	482	N	D482N	Likely benign	0	1	7	3
MUT:EPOR:Gly46Glu	PROT:P19235	EPOR	G	46	E	G46E	Benign	0	1	7	263
MUT:EPOR:Pro380Ala	PROT:P19235	EPOR	P	380	A	P380A	Benign	0	2	7	71
MUT:EPOR:Pro488Ser	PROT:P19235	EPOR	P	488	S	P488S	Benign/Likely benign	0	2	7	1
MUT:EPOR:Ser486Pro	PROT:P19235	EPOR	S	486	P	S486P	Likely benign	0	1	7	1
MUT:EPOR:Thr341Met	PROT:P19235	EPOR	T	341	M	T341M	Likely benign	0	1	7	32
MUT:EPOR:Val193Ala	PROT:P19235	EPOR	V	193	A	V193A	Likely benign	0	1	7	116
MUT:EPS8:His35Arg	PROT:Q12929	EPS8	H	35	R	H35R	Benign/Likely benign	0	2	43	10
MUT:EPS8:Met449Val	PROT:Q12929	EPS8	M	449	V	M449V	Likely benign	0	1	43	27
MUT:EPS8:Thr31Met	PROT:Q12929	EPS8	T	31	M	T31M	Likely benign	0	1	43	6
MUT:EPS8:Val744Ile	PROT:Q12929	EPS8	V	744	I	V744I	Benign/Likely benign	0	1	43	18
MUT:EPS8L3:Glu532Lys	PROT:Q8TE67	EPS8L3	E	532	K	E532K	Likely benign	0	1	11	23
MUT:EPS8L3:Gly556Arg	PROT:Q8TE67	EPS8L3	G	556	R	G556R	Likely benign	0	1	11	1
MUT:EPS8L3:Met35Ile	PROT:Q8TE67	EPS8L3	M	35	I	M35I	Benign	0	1	11	25
MUT:ERAL1:Ala152Thr	PROT:O75616	ERAL1	A	152	T	A152T	Likely benign	0	1	2	26
MUT:ERAL1:Asn236Ile	PROT:O75616	ERAL1	N	236	I	N236I	Pathogenic	1	2	2	48
MUT:ERAL1:His181Arg	PROT:O75616	ERAL1	H	181	R	H181R	Likely benign	0	1	2	55
MUT:ERAL1:Ile297Thr	PROT:O75616	ERAL1	I	297	T	I297T	Likely benign	0	1	2	13
MUT:ERAL1:Lys317Asn	PROT:O75616	ERAL1	K	317	N	K317N	Likely benign	0	1	2	33
MUT:ERCC2:Ala163Val	PROT:P18074	ERCC2	A	163	V	A163V	Likely benign	0	1	18	18
MUT:ERCC2:Ala717Gly	PROT:P18074	ERCC2	A	717	G	A717G	Pathogenic/Likely pathogenic	1	11	18	1
MUT:ERCC2:Ala725Pro	PROT:P18074	ERCC2	A	725	P	A725P	Pathogenic/Likely pathogenic	1	3	18	7
MUT:ERCC2:Ala725Thr	PROT:P18074	ERCC2	A	725	T	A725T	Likely pathogenic	1	1	18	7
MUT:ERCC2:Arg112His	PROT:P18074	ERCC2	R	112	H	R112H	Pathogenic	1	3	18	1
MUT:ERCC2:Arg511Gln	PROT:P18074	ERCC2	R	511	Q	R511Q	Pathogenic/Likely pathogenic	1	2	18	4
MUT:ERCC2:Arg601Leu	PROT:P18074	ERCC2	R	601	L	R601L	Pathogenic/Likely pathogenic	1	2	18	2
MUT:ERCC2:Arg616Pro	PROT:P18074	ERCC2	R	616	P	R616P	Pathogenic	1	4	18	13
MUT:ERCC2:Arg616Trp	PROT:P18074	ERCC2	R	616	W	R616W	Pathogenic/Likely pathogenic	1	3	18	13
MUT:ERCC2:Arg658Cys	PROT:P18074	ERCC2	R	658	C	R658C	Pathogenic/Likely pathogenic	1	3	18	5
MUT:ERCC2:Arg658His	PROT:P18074	ERCC2	R	658	H	R658H	Pathogenic/Likely pathogenic	1	2	18	5
MUT:ERCC2:Arg666Trp	PROT:P18074	ERCC2	R	666	W	R666W	Pathogenic/Likely pathogenic	1	2	18	5
MUT:ERCC2:Arg683Gln	PROT:P18074	ERCC2	R	683	Q	R683Q	Pathogenic	1	4	18	1
MUT:ERCC2:Arg683Trp	PROT:P18074	ERCC2	R	683	W	R683W	Pathogenic/Likely pathogenic	1	3	18	1
MUT:ERCC2:Arg722Trp	PROT:P18074	ERCC2	R	722	W	R722W	Pathogenic	1	5	18	4
MUT:ERCC2:Asp312Asn	PROT:P18074	ERCC2	D	312	N	D312N	Benign/Likely benign	0	3	18	16
MUT:ERCC2:Cys259Tyr	PROT:P18074	ERCC2	C	259	Y	C259Y	Pathogenic/Likely pathogenic	1	2	18	9
MUT:ERCC2:Glu546Lys	PROT:P18074	ERCC2	E	546	K	E546K	Likely pathogenic	1	1	18	32
MUT:ERCC2:Glu745Gln	PROT:P18074	ERCC2	E	745	Q	E745Q	Likely benign	0	1	18	6
MUT:ERCC2:Glu95Gly	PROT:P18074	ERCC2	E	95	G	E95G	Benign/Likely benign	0	1	18	1
MUT:ERCC2:Glu98Asp	PROT:P18074	ERCC2	E	98	D	E98D	Benign/Likely benign	0	1	18	2
MUT:ERCC2:Gly47Arg	PROT:P18074	ERCC2	G	47	R	G47R	Pathogenic	1	1	18	22
MUT:ERCC2:Gly675Arg	PROT:P18074	ERCC2	G	675	R	G675R	Pathogenic/Likely pathogenic	1	1	18	4
MUT:ERCC2:Leu485Pro	PROT:P18074	ERCC2	L	485	P	L485P	Pathogenic	1	1	18	22
MUT:ERCC2:Lys751Gln	PROT:P18074	ERCC2	K	751	Q	K751Q	Benign/Likely benign	0	3	18	0
MUT:ERCC2:Ser541Arg	PROT:P18074	ERCC2	S	541	R	S541R	Pathogenic	1	2	18	34
MUT:ERCC3:Ala423Thr	PROT:P19447	ERCC3	A	423	T	A423T	Benign	0	1	13	53
MUT:ERCC3:Ile156Val	PROT:P19447	ERCC3	I	156	V	I156V	Likely pathogenic	1	1	13	11
MUT:ERCC3:Lys12Asn	PROT:P19447	ERCC3	K	12	N	K12N	Benign	0	1	13	32
MUT:ERCC3:Met590Arg	PROT:P19447	ERCC3	M	590	R	M590R	Benign	0	1	13	11
MUT:ERCC3:Phe99Ser	PROT:P19447	ERCC3	F	99	S	F99S	Pathogenic	1	1	13	46
MUT:ERCC3:Ser704Leu	PROT:P19447	ERCC3	S	704	L	S704L	Benign/Likely benign	0	3	13	2
MUT:ERCC3:Thr119Pro	PROT:P19447	ERCC3	T	119	P	T119P	Pathogenic	1	1	13	26
MUT:ERCC3:Val405Ile	PROT:P19447	ERCC3	V	405	I	V405I	Likely benign	0	1	13	35
MUT:ERCC6:Arg165Lys	PROT:P0DP91	ERCC6	R	165	K	R165K	Likely benign	0	1	4	34
MUT:ERCC6:Arg48Cys	PROT:P0DP91	ERCC6	R	48	C	R48C	Likely benign	0	1	4	83
MUT:ERCC6:Arg562Trp	PROT:P0DP91	ERCC6	R	562	W	R562W	Likely pathogenic	1	1	4	217
MUT:ERCC6:Arg670Trp	PROT:P0DP91	ERCC6	R	670	W	R670W	Pathogenic	1	1	4	325
MUT:ERCC6:Glu1194Gly	PROT:P0DP91	ERCC6	E	1194	G	E1194G	Likely benign	0	1	4	849
MUT:ERCC6:Gly1322Val	PROT:P0DP91	ERCC6	G	1322	V	G1322V	Benign	0	3	4	977
MUT:ERCC6:Gly1372Arg	PROT:P0DP91	ERCC6	G	1372	R	G1372R	Benign/Likely benign	0	3	4	1027
MUT:ERCC6:Gly399Asp	PROT:P0DP91	ERCC6	G	399	D	G399D	Benign/Likely benign	0	4	4	54
MUT:ERCC6:Gly746Asp	PROT:P0DP91	ERCC6	G	746	D	G746D	Pathogenic	1	1	4	401
MUT:ERCC6:Gly929Arg	PROT:P0DP91	ERCC6	G	929	R	G929R	Likely benign	0	1	4	584
MUT:ERCC6:Ile692Val	PROT:P0DP91	ERCC6	I	692	V	I692V	Likely benign	0	1	4	347
MUT:ERCC6:Ile800Val	PROT:P0DP91	ERCC6	I	800	V	I800V	Likely benign	0	1	4	455
MUT:ERCC6:Leu536Trp	PROT:P0DP91	ERCC6	L	536	W	L536W	Pathogenic/Likely pathogenic	1	1	4	191
MUT:ERCC6:Leu897Pro	PROT:P0DP91	ERCC6	L	897	P	L897P	Likely pathogenic	1	1	4	552
MUT:ERCC6:Met1097Val	PROT:P0DP91	ERCC6	M	1097	V	M1097V	Benign/Likely benign	0	2	4	752
MUT:ERCC6:Met752Val	PROT:P0DP91	ERCC6	M	752	V	M752V	Pathogenic	1	1	4	407
MUT:ERCC6:Pro1042Leu	PROT:P0DP91	ERCC6	P	1042	L	P1042L	Likely pathogenic	1	1	4	697
MUT:ERCC6:Pro934Thr	PROT:P0DP91	ERCC6	P	934	T	P934T	Likely pathogenic	1	2	4	589
MUT:ERCC6:Ser1161Arg	PROT:P0DP91	ERCC6	S	1161	R	S1161R	Benign/Likely benign	0	3	4	816
MUT:ERCC6:Ser1161Thr	PROT:P0DP91	ERCC6	S	1161	T	S1161T	Benign/Likely benign	0	3	4	816
MUT:ERCC6:Ser687Leu	PROT:P0DP91	ERCC6	S	687	L	S687L	Pathogenic	1	1	4	342
MUT:ERCC6:Thr1441Ile	PROT:P0DP91	ERCC6	T	1441	I	T1441I	Benign	0	3	4	1096
MUT:ERCC6:Thr942Met	PROT:P0DP91	ERCC6	T	942	M	T942M	Benign/Likely benign	0	3	4	597
MUT:ERCC6:Trp851Arg	PROT:P0DP91	ERCC6	W	851	R	W851R	Pathogenic/Likely pathogenic	1	2	4	506
MUT:ERCC6:Val1101Ile	PROT:P0DP91	ERCC6	V	1101	I	V1101I	Likely benign	0	1	4	756
MUT:ERCC6:Val127Ile	PROT:P0DP91	ERCC6	V	127	I	V127I	Likely benign	0	3	4	4
MUT:ERCC6:Val959Leu	PROT:P0DP91	ERCC6	V	959	L	V959L	Benign/Likely benign	0	3	4	614
MUT:ERCC6L2:Ala1543Thr	PROT:Q5T890	ERCC6L2	A	1543	T	A1543T	Benign	0	1	8	148
MUT:ERCC6L2:Arg422Ser	PROT:Q5T890	ERCC6L2	R	422	S	R422S	Likely benign	0	1	8	46
MUT:ERCC6L2:Arg9Cys	PROT:Q5T890	ERCC6L2	R	9	C	R9C	Likely benign	0	1	8	195
MUT:ERCC6L2:Asn1432Asp	PROT:Q5T890	ERCC6L2	N	1432	D	N1432D	Benign/Likely benign	0	2	8	37
MUT:ERCC6L2:Asn953Ile	PROT:Q5T890	ERCC6L2	N	953	I	N953I	Benign	0	1	8	280
MUT:ERCC6L2:Asn96Asp	PROT:Q5T890	ERCC6L2	N	96	D	N96D	Likely benign	0	1	8	108
MUT:ERCC6L2:Cys35Arg	PROT:Q5T890	ERCC6L2	C	35	R	C35R	Likely benign	0	1	8	169
MUT:ERCC6L2:Gln1280Pro	PROT:Q5T890	ERCC6L2	Q	1280	P	Q1280P	Likely benign	0	1	8	90
MUT:ERCC6L2:Gln7His	PROT:Q5T890	ERCC6L2	Q	7	H	Q7H	Benign/Likely benign	0	2	8	197
MUT:ERCC6L2:Glu1377Lys	PROT:Q5T890	ERCC6L2	E	1377	K	E1377K	Likely benign	0	1	8	7
MUT:ERCC6L2:Gly142Arg	PROT:Q5T890	ERCC6L2	G	142	R	G142R	Likely benign	0	1	8	62
MUT:ERCC6L2:Ile1065Val	PROT:Q5T890	ERCC6L2	I	1065	V	I1065V	Benign	0	2	8	305
MUT:ERCC6L2:Ile119Val	PROT:Q5T890	ERCC6L2	I	119	V	I119V	Likely benign	0	1	8	85
MUT:ERCC6L2:Ile646Val	PROT:Q5T890	ERCC6L2	I	646	V	I646V	Likely benign	0	1	8	27
MUT:ERCC6L2:Leu746Val	PROT:Q5T890	ERCC6L2	L	746	V	L746V	Benign	0	1	8	73
MUT:ERCC6L2:Lys107Gln	PROT:Q5T890	ERCC6L2	K	107	Q	K107Q	Likely benign	0	1	8	97
MUT:ERCC6L2:Lys362Arg	PROT:Q5T890	ERCC6L2	K	362	R	K362R	Likely benign	0	1	8	14
MUT:ERCC6L2:Met1468Thr	PROT:Q5T890	ERCC6L2	M	1468	T	M1468T	Benign	0	1	8	73
MUT:ERCC6L2:Phe1534Cys	PROT:Q5T890	ERCC6L2	F	1534	C	F1534C	Benign/Likely benign	0	2	8	139
MUT:ERCC6L2:Pro1198His	PROT:Q5T890	ERCC6L2	P	1198	H	P1198H	Benign	0	1	8	172
MUT:ERCC6L2:Pro3Gln	PROT:Q5T890	ERCC6L2	P	3	Q	P3Q	Benign/Likely benign	0	2	8	201
MUT:ERCC6L2:Pro418Thr	PROT:Q5T890	ERCC6L2	P	418	T	P418T	Benign	0	1	8	42
MUT:ERCC6L2:Thr1391Ile	PROT:Q5T890	ERCC6L2	T	1391	I	T1391I	Likely benign	0	1	8	1
MUT:ERCC6L2:Val1026Leu	PROT:Q5T890	ERCC6L2	V	1026	L	V1026L	Benign	0	1	8	344
MUT:ERCC6L2:Val226Ile	PROT:Q5T890	ERCC6L2	V	226	I	V226I	Likely benign	0	1	8	22
MUT:ERCC6L2:Val581Ala	PROT:Q5T890	ERCC6L2	V	581	A	V581A	Benign	0	1	8	92
MUT:ERCC6L:Arg90Gln	PROT:Q2NKX8	ERCC6L	R	90	Q	R90Q	Benign	0	2	56	26
MUT:ERCC8:Ala160Thr	PROT:Q13216	ERCC8	A	160	T	A160T	Likely pathogenic	1	2	4	7
MUT:ERCC8:Ala160Val	PROT:Q13216	ERCC8	A	160	V	A160V	Pathogenic/Likely pathogenic	1	2	4	7
MUT:ERCC8:Ala205Pro	PROT:Q13216	ERCC8	A	205	P	A205P	Pathogenic/Likely pathogenic	1	1	4	28
MUT:ERCC8:Asp266Ala	PROT:Q13216	ERCC8	D	266	A	D266A	Likely pathogenic	1	1	4	19
MUT:ERCC8:Asp266Gly	PROT:Q13216	ERCC8	D	266	G	D266G	Pathogenic/Likely pathogenic	1	1	4	19
MUT:ERCC8:Gly257Arg	PROT:Q13216	ERCC8	G	257	R	G257R	Pathogenic/Likely pathogenic	1	2	4	10
MUT:ERCC8:Ile68Phe	PROT:Q13216	ERCC8	I	68	F	I68F	Pathogenic	1	1	4	99
MUT:ERCC8:Met59Thr	PROT:Q13216	ERCC8	M	59	T	M59T	Pathogenic/Likely pathogenic	1	1	4	108
MUT:ERCC8:Thr204Lys	PROT:Q13216	ERCC8	T	204	K	T204K	Likely pathogenic	1	1	4	29
MUT:ERCC8:Trp361Cys	PROT:Q13216	ERCC8	W	361	C	W361C	Pathogenic	1	1	4	29
MUT:ERCC8:Val161Ile	PROT:Q13216	ERCC8	V	161	I	V161I	Pathogenic/Likely pathogenic	1	2	4	6
MUT:ERF:Ala415Val	PROT:P50548	ERF	A	415	V	A415V	Benign/Likely benign	0	1	34	16
MUT:ERF:Arg143Cys	PROT:P50548	ERF	R	143	C	R143C	Likely benign	0	1	34	4
MUT:ERF:Arg344His	PROT:P50548	ERF	R	344	H	R344H	Likely benign	0	1	34	13
MUT:ERF:Arg86Cys	PROT:P50548	ERF	R	86	C	R86C	Pathogenic/Likely pathogenic	1	3	34	6
MUT:ERF:Cys189Gly	PROT:P50548	ERF	C	189	G	C189G	Likely benign	0	1	34	4
MUT:ERF:Gly398Ser	PROT:P50548	ERF	G	398	S	G398S	Benign/Likely benign	0	1	34	4
MUT:ERF:Gly53Ala	PROT:P50548	ERF	G	53	A	G53A	Likely pathogenic	1	1	34	18
MUT:ERF:Gly53Arg	PROT:P50548	ERF	G	53	R	G53R	Likely pathogenic	1	1	34	18
MUT:ERF:Leu172Phe	PROT:P50548	ERF	L	172	F	L172F	Benign/Likely benign	0	1	34	1
MUT:ERF:Leu37Pro	PROT:P50548	ERF	L	37	P	L37P	Likely pathogenic	1	1	34	13
MUT:ERF:Met1Val	PROT:P50548	ERF	M	1	V	M1V	Pathogenic	1	1	34	6
MUT:ERF:Pro220His	PROT:P50548	ERF	P	220	H	P220H	Likely benign	0	2	34	26
MUT:ERF:Pro262Leu	PROT:P50548	ERF	P	262	L	P262L	Likely benign	0	1	34	11
MUT:ERF:Pro349Leu	PROT:P50548	ERF	P	349	L	P349L	Benign/Likely benign	0	1	34	8
MUT:ERF:Pro421Leu	PROT:P50548	ERF	P	421	L	P421L	Likely benign	0	1	34	10
MUT:ERF:Thr273Ser	PROT:P50548	ERF	T	273	S	T273S	Likely benign	0	1	34	22
MUT:ERF:Tyr116Cys	PROT:P50548	ERF	Y	116	C	Y116C	Likely benign	0	1	34	11
MUT:ERF:Tyr89Cys	PROT:P50548	ERF	Y	89	C	Y89C	Pathogenic	1	1	34	9
MUT:ERF:Val396Ile	PROT:P50548	ERF	V	396	I	V396I	Likely benign	0	1	34	2
MUT:ERI1:Asp134Gly	PROT:Q8IV48	ERI1	D	134	G	D134G	Likely pathogenic	1	1	9	67
MUT:ERI1:Asp298Ala	PROT:Q8IV48	ERI1	D	298	A	D298A	Pathogenic	1	1	9	22
MUT:ERI1:Asp298Gly	PROT:Q8IV48	ERI1	D	298	G	D298G	Likely pathogenic	1	1	9	22
MUT:ERI1:Glu150Asp	PROT:Q8IV48	ERI1	E	150	D	E150D	Likely pathogenic	1	1	9	72
MUT:ERI1:Leu16Pro	PROT:Q8IV48	ERI1	L	16	P	L16P	Benign	0	1	9	41
MUT:ERI1:Pro155Leu	PROT:Q8IV48	ERI1	P	155	L	P155L	Likely pathogenic	1	1	9	67
MUT:ERI1:Pro24Arg	PROT:Q8IV48	ERI1	P	24	R	P24R	Likely benign	0	1	9	33
MUT:ERI1:Ser299Pro	PROT:Q8IV48	ERI1	S	299	P	S299P	Likely pathogenic	1	1	9	23
MUT:ERLEC1:Asn483Ser	PROT:Q96DZ1	ERLEC1	N	483	S	N483S	Likely pathogenic	1	1	6	155
MUT:ERLEC1:His413Tyr	PROT:Q96DZ1	ERLEC1	H	413	Y	H413Y	Likely pathogenic	1	1	6	85
MUT:ERLEC1:Thr140Ile	PROT:Q96DZ1	ERLEC1	T	140	I	T140I	Likely pathogenic	1	1	6	31
MUT:ERLEC1:Thr140Ser	PROT:Q96DZ1	ERLEC1	T	140	S	T140S	Likely pathogenic	1	1	6	31
MUT:ERLIN2:Ala151Val	PROT:O94905	ERLIN2	A	151	V	A151V	Pathogenic/Likely pathogenic	1	2	7	21
MUT:ERLIN2:Ala178Thr	PROT:O94905	ERLIN2	A	178	T	A178T	Likely pathogenic	1	1	7	6
MUT:ERLIN2:Asn125Ser	PROT:O94905	ERLIN2	N	125	S	N125S	Pathogenic	1	1	7	12
MUT:ERLIN2:Asp69Glu	PROT:O94905	ERLIN2	D	69	E	D69E	Likely pathogenic	1	1	7	8
MUT:ERLIN2:Gln63Lys	PROT:O94905	ERLIN2	Q	63	K	Q63K	Pathogenic/Likely pathogenic	1	2	7	2
MUT:ERLIN2:Glu184Lys	PROT:O94905	ERLIN2	E	184	K	E184K	Likely pathogenic	1	1	7	6
MUT:ERLIN2:Ile144Val	PROT:O94905	ERLIN2	I	144	V	I144V	Pathogenic	1	1	7	28
MUT:ERLIN2:Lys267Glu	PROT:O94905	ERLIN2	K	267	E	K267E	Pathogenic	1	1	7	26
MUT:ERLIN2:Ser129Thr	PROT:O94905	ERLIN2	S	129	T	S129T	Pathogenic	1	1	7	16
MUT:ERLIN2:Ser293Gly	PROT:O94905	ERLIN2	S	293	G	S293G	Pathogenic	1	1	7	52
MUT:ERLIN2:Val168Met	PROT:O94905	ERLIN2	V	168	M	V168M	Pathogenic/Likely pathogenic	1	2	7	4
MUT:ESD:Asp231Gly	PROT:P10768	ESD	D	231	G	D231G	Benign	0	1	21	15
MUT:ESPL1:Ala116Val	PROT:Q14674	ESPL1	A	116	V	A116V	Benign	0	1	31	24
MUT:ESPL1:Ala1462Thr	PROT:Q14674	ESPL1	A	1462	T	A1462T	Benign	0	3	31	13
MUT:ESPL1:Arg1318Gln	PROT:Q14674	ESPL1	R	1318	Q	R1318Q	Likely benign	0	1	31	4
MUT:ESPL1:Arg1479Gly	PROT:Q14674	ESPL1	R	1479	G	R1479G	Benign	0	1	31	4
MUT:ESPL1:Arg596Gln	PROT:Q14674	ESPL1	R	596	Q	R596Q	Benign	0	1	31	3
MUT:ESPL1:Gly1337Val	PROT:Q14674	ESPL1	G	1337	V	G1337V	Benign	0	1	31	15
MUT:ESPL1:Gly1510Arg	PROT:Q14674	ESPL1	G	1510	R	G1510R	Likely benign	0	1	31	35
MUT:ESPL1:His1078Asn	PROT:Q14674	ESPL1	H	1078	N	H1078N	Benign	0	4	31	5
MUT:ESPN:Ala173Val	PROT:B1AK53	ESPN	A	173	V	A173V	Likely benign	0	1	6	165
MUT:ESPN:Ala402Thr	PROT:B1AK53	ESPN	A	402	T	A402T	Likely benign	0	1	6	60
MUT:ESPN:Arg422Trp	PROT:B1AK53	ESPN	R	422	W	R422W	Benign	0	1	6	80
MUT:ESPN:Arg632Cys	PROT:B1AK53	ESPN	R	632	C	R632C	Benign/Likely benign	0	1	6	15
MUT:ESPN:Arg774Gln	PROT:B1AK53	ESPN	R	774	Q	R774Q	Pathogenic	1	1	6	74
MUT:ESPN:Cys397Arg	PROT:B1AK53	ESPN	C	397	R	C397R	Likely benign	0	1	6	55
MUT:ESPN:Glu658Lys	PROT:B1AK53	ESPN	E	658	K	E658K	Likely pathogenic	1	1	6	11
MUT:ESPN:Met762Leu	PROT:B1AK53	ESPN	M	762	L	M762L	Likely benign	0	1	6	62
MUT:ESPN:Pro350Ser	PROT:B1AK53	ESPN	P	350	S	P350S	Likely benign	0	1	6	8
MUT:ESPN:Ser719Arg	PROT:B1AK53	ESPN	S	719	R	S719R	Pathogenic	1	1	6	19
MUT:ESR2:Arg221Gly	PROT:Q92731	ESR2	R	221	G	R221G	Likely benign	0	1	8	21
MUT:ESR2:Gln267His	PROT:Q92731	ESR2	Q	267	H	Q267H	Benign	0	1	8	67
MUT:ESR2:Gly250Ser	PROT:Q92731	ESR2	G	250	S	G250S	Likely benign	0	1	8	50
MUT:ESR2:Ile3Val	PROT:Q92731	ESR2	I	3	V	I3V	Benign	0	2	8	33
MUT:ESR2:Leu270Phe	PROT:Q92731	ESR2	L	270	F	L270F	Likely benign	0	1	8	70
MUT:ESR2:Lys314Arg	PROT:Q92731	ESR2	K	314	R	K314R	Pathogenic	1	1	8	114
MUT:ESR2:Lys474Thr	PROT:Q92731	ESR2	K	474	T	K474T	Benign	0	1	8	14
MUT:ESRP1:Asn314Ser	PROT:Q6NXG1	ESRP1	N	314	S	N314S	Benign	0	2	5	7
MUT:ESRP1:Leu259Val	PROT:Q6NXG1	ESRP1	L	259	V	L259V	Pathogenic	1	1	5	22
MUT:ESRRG:Arg184Cys	PROT:P62508	ESRRG	R	184	C	R184C	Pathogenic/Likely pathogenic	1	1	3	11
MUT:ESRRG:Cys180Tyr	PROT:P62508	ESRRG	C	180	Y	C180Y	Likely pathogenic	1	1	3	15
MUT:ESRRG:Leu449Arg	PROT:P62508	ESRRG	L	449	R	L449R	Likely pathogenic	1	1	3	86
MUT:ESRRG:Lys149Arg	PROT:P62508	ESRRG	K	149	R	K149R	Likely pathogenic	1	1	3	46
MUT:ETFA:Arg122Lys	PROT:P13804	ETFA	R	122	K	R122K	Likely pathogenic	1	2	21	4
MUT:ETFA:Gly116Arg	PROT:P13804	ETFA	G	116	R	G116R	Likely pathogenic	1	3	21	10
MUT:ETFA:Gly116Val	PROT:P13804	ETFA	G	116	V	G116V	Likely pathogenic	1	1	21	10
MUT:ETFA:Leu154Val	PROT:P13804	ETFA	L	154	V	L154V	Likely benign	0	1	21	4
MUT:ETFA:Leu212Pro	PROT:P13804	ETFA	L	212	P	L212P	Likely pathogenic	1	1	21	33
MUT:ETFA:Met1Ile	PROT:P13804	ETFA	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	21	14
MUT:ETFA:Met1Val	PROT:P13804	ETFA	M	1	V	M1V	Pathogenic	1	2	21	14
MUT:ETFA:Thr171Ile	PROT:P13804	ETFA	T	171	I	T171I	Benign/Likely benign	0	1	21	0
MUT:ETFA:Thr266Met	PROT:P13804	ETFA	T	266	M	T266M	Pathogenic	1	4	21	0
MUT:ETFA:Val157Gly	PROT:P13804	ETFA	V	157	G	V157G	Pathogenic/Likely pathogenic	1	2	21	1
MUT:ETFB:Arg164Gln	PROT:P38117	ETFB	R	164	Q	R164Q	Pathogenic/Likely pathogenic	1	2	13	3
MUT:ETFB:Arg164Leu	PROT:P38117	ETFB	R	164	L	R164L	Likely pathogenic	1	1	13	3
MUT:ETFB:Arg174His	PROT:P38117	ETFB	R	174	H	R174H	Likely benign	0	2	13	2
MUT:ETFB:Asp229Glu	PROT:P38117	ETFB	D	229	E	D229E	Likely benign	0	1	13	3
MUT:ETFB:Cys42Arg	PROT:P38117	ETFB	C	42	R	C42R	Pathogenic/Likely pathogenic	1	1	13	7
MUT:ETFB:Gln125His	PROT:P38117	ETFB	Q	125	H	Q125H	Likely pathogenic	1	1	13	36
MUT:ETFB:Gly86Ala	PROT:P38117	ETFB	G	86	A	G86A	Likely benign	0	1	13	51
MUT:ETFB:Thr154Met	PROT:P38117	ETFB	T	154	M	T154M	Benign	0	1	13	7
MUT:ETHE1:Ala21Ser	PROT:O95571	ETHE1	A	21	S	A21S	Benign	0	1	8	2
MUT:ETHE1:Arg159Cys	PROT:O95571	ETHE1	R	159	C	R159C	Likely pathogenic	1	1	8	13
MUT:ETHE1:Arg163Gln	PROT:O95571	ETHE1	R	163	Q	R163Q	Pathogenic	1	1	8	9
MUT:ETHE1:Arg163Trp	PROT:O95571	ETHE1	R	163	W	R163W	Pathogenic	1	1	8	9
MUT:ETHE1:Asp165Gly	PROT:O95571	ETHE1	D	165	G	D165G	Likely pathogenic	1	1	8	7
MUT:ETHE1:Asp196Asn	PROT:O95571	ETHE1	D	196	N	D196N	Pathogenic/Likely pathogenic	1	1	8	21
MUT:ETHE1:Asp196His	PROT:O95571	ETHE1	D	196	H	D196H	Likely pathogenic	1	1	8	21
MUT:ETHE1:Cys161Tyr	PROT:O95571	ETHE1	C	161	Y	C161Y	Likely pathogenic	1	2	8	11
MUT:ETHE1:Gln27Lys	PROT:O95571	ETHE1	Q	27	K	Q27K	Pathogenic/Likely pathogenic	1	1	8	8
MUT:ETHE1:Gly227Asp	PROT:O95571	ETHE1	G	227	D	G227D	Likely benign	0	1	8	9
MUT:ETHE1:Ile114Phe	PROT:O95571	ETHE1	I	114	F	I114F	Likely benign	0	1	8	48
MUT:ETHE1:Leu185Arg	PROT:O95571	ETHE1	L	185	R	L185R	Pathogenic	1	1	8	10
MUT:ETHE1:Met1Ile	PROT:O95571	ETHE1	M	1	I	M1I	Pathogenic	1	1	8	13
MUT:ETHE1:Met1Leu	PROT:O95571	ETHE1	M	1	L	M1L	Pathogenic	1	1	8	13
MUT:ETHE1:Met1Lys	PROT:O95571	ETHE1	M	1	K	M1K	Pathogenic	1	1	8	13
MUT:ETHE1:Met1Thr	PROT:O95571	ETHE1	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	8	13
MUT:ETHE1:Met1Val	PROT:O95571	ETHE1	M	1	V	M1V	Likely pathogenic	1	1	8	13
MUT:ETHE1:Ser88Leu	PROT:O95571	ETHE1	S	88	L	S88L	Likely pathogenic	1	1	8	22
MUT:ETHE1:Thr136Ala	PROT:O95571	ETHE1	T	136	A	T136A	Pathogenic	1	1	8	36
MUT:ETHE1:Thr136Ser	PROT:O95571	ETHE1	T	136	S	T136S	Likely pathogenic	1	1	8	36
MUT:ETHE1:Thr78Ile	PROT:O95571	ETHE1	T	78	I	T78I	Likely pathogenic	1	1	8	12
MUT:ETV3L:Ala264Val	PROT:Q6ZN32	ETV3L	A	264	V	A264V	Likely benign	0	1	3	82
MUT:ETV3L:His141Gln	PROT:Q6ZN32	ETV3L	H	141	Q	H141Q	Likely benign	0	1	3	55
MUT:ETV3L:Ser32Leu	PROT:Q6ZN32	ETV3L	S	32	L	S32L	Likely benign	0	1	3	52
MUT:ETV4:Arg415His	PROT:P43268	ETV4	R	415	H	R415H	Likely pathogenic	1	1	4	23
MUT:ETV4:His175Asn	PROT:P43268	ETV4	H	175	N	H175N	Likely benign	0	1	4	26
MUT:ETV4:Pro433Leu	PROT:P43268	ETV4	P	433	L	P433L	Likely benign	0	1	4	41
MUT:ETV5:His179Pro	PROT:P41161	ETV5	H	179	P	H179P	Pathogenic	1	1	2	85
MUT:EVA1A:Arg150His	PROT:Q9H8M9	EVA1A	R	150	H	R150H	Benign	0	1	4	36
MUT:EVA1A:Ser78Asn	PROT:Q9H8M9	EVA1A	S	78	N	S78N	Benign	0	1	4	28
MUT:EVC2:Ala883Val	PROT:Q86UK5	EVC2	A	883	V	A883V	Benign/Likely benign	0	2	6	336
MUT:EVC2:Arg272Gln	PROT:Q86UK5	EVC2	R	272	Q	R272Q	Likely benign	0	1	6	143
MUT:EVC2:Arg272Trp	PROT:Q86UK5	EVC2	R	272	W	R272W	Benign	0	2	6	143
MUT:EVC2:Arg874Gln	PROT:Q86UK5	EVC2	R	874	Q	R874Q	Benign/Likely benign	0	2	6	327
MUT:EVC2:Arg955Trp	PROT:Q86UK5	EVC2	R	955	W	R955W	Benign	0	1	6	265
MUT:EVC2:Asp207Tyr	PROT:Q86UK5	EVC2	D	207	Y	D207Y	Pathogenic/Likely pathogenic	1	3	6	208
MUT:EVC2:Asp799His	PROT:Q86UK5	EVC2	D	799	H	D799H	Benign/Likely benign	0	2	6	252
MUT:EVC2:Glu1003Lys	PROT:Q86UK5	EVC2	E	1003	K	E1003K	Likely benign	0	2	6	217
MUT:EVC2:Glu628Lys	PROT:Q86UK5	EVC2	E	628	K	E628K	Benign/Likely benign	0	2	6	81
MUT:EVC2:Gly488Ser	PROT:Q86UK5	EVC2	G	488	S	G488S	Likely benign	0	2	6	59
MUT:EVC2:Gly70Val	PROT:Q86UK5	EVC2	G	70	V	G70V	Benign	0	1	6	345
MUT:EVC2:Ile185Val	PROT:Q86UK5	EVC2	I	185	V	I185V	Likely benign	0	1	6	230
MUT:EVC2:Ile283Arg	PROT:Q86UK5	EVC2	I	283	R	I283R	Pathogenic	1	1	6	132
MUT:EVC2:Ile406Val	PROT:Q86UK5	EVC2	I	406	V	I406V	Likely benign	0	1	6	9
MUT:EVC2:Leu1014Val	PROT:Q86UK5	EVC2	L	1014	V	L1014V	Benign/Likely benign	0	1	6	206
MUT:EVC2:Leu1128Met	PROT:Q86UK5	EVC2	L	1128	M	L1128M	Likely benign	0	2	6	92
MUT:EVC2:Lys231Arg	PROT:Q86UK5	EVC2	K	231	R	K231R	Benign	0	1	6	184
MUT:EVC2:Met577Thr	PROT:Q86UK5	EVC2	M	577	T	M577T	Benign/Likely benign	0	1	6	30
MUT:EVC2:Phe302Ile	PROT:Q86UK5	EVC2	F	302	I	F302I	Benign/Likely benign	0	2	6	113
MUT:EVC2:Pro347Leu	PROT:Q86UK5	EVC2	P	347	L	P347L	Benign/Likely benign	0	2	6	68
MUT:EVC2:Ser1008Leu	PROT:Q86UK5	EVC2	S	1008	L	S1008L	Benign/Likely benign	0	1	6	212
MUT:EVC2:Ser1046Arg	PROT:Q86UK5	EVC2	S	1046	R	S1046R	Benign/Likely benign	0	8	6	174
MUT:EVC2:Ser155Pro	PROT:Q86UK5	EVC2	S	155	P	S155P	Likely benign	0	1	6	260
MUT:EVC2:Ser230Gly	PROT:Q86UK5	EVC2	S	230	G	S230G	Benign/Likely benign	0	2	6	185
MUT:EVC2:Thr1138Met	PROT:Q86UK5	EVC2	T	1138	M	T1138M	Benign/Likely benign	0	2	6	82
MUT:EVC2:Thr400Ala	PROT:Q86UK5	EVC2	T	400	A	T400A	Benign	0	1	6	15
MUT:EVC2:Thr462Ala	PROT:Q86UK5	EVC2	T	462	A	T462A	Benign/Likely benign	0	1	6	33
MUT:EVC2:Thr699Ala	PROT:Q86UK5	EVC2	T	699	A	T699A	Benign/Likely benign	0	1	6	152
MUT:EVC2:Val693Ile	PROT:Q86UK5	EVC2	V	693	I	V693I	Benign/Likely benign	0	2	6	146
MUT:EVC2:Val890Leu	PROT:Q86UK5	EVC2	V	890	L	V890L	Likely benign	0	1	6	330
MUT:EXO1:Ala423Glu	PROT:Q9UQ84	EXO1	A	423	E	A423E	Likely benign	0	1	26	1
MUT:EXO1:Arg557His	PROT:Q9UQ84	EXO1	R	557	H	R557H	Likely benign	0	1	26	9
MUT:EXO1:Arg634Gln	PROT:Q9UQ84	EXO1	R	634	Q	R634Q	Likely benign	0	1	26	5
MUT:EXO1:Arg723Cys	PROT:Q9UQ84	EXO1	R	723	C	R723C	Benign	0	1	26	9
MUT:EXO1:Arg93Gly	PROT:Q9UQ84	EXO1	R	93	G	R93G	Benign	0	1	26	282
MUT:EXO1:Asn279Ser	PROT:Q9UQ84	EXO1	N	279	S	N279S	Benign	0	1	26	96
MUT:EXO1:Asn299Ser	PROT:Q9UQ84	EXO1	N	299	S	N299S	Benign	0	1	26	76
MUT:EXO1:Asp249Asn	PROT:Q9UQ84	EXO1	D	249	N	D249N	Likely benign	0	1	26	126
MUT:EXO1:Glu589Lys	PROT:Q9UQ84	EXO1	E	589	K	E589K	Benign	0	1	26	21
MUT:EXO1:Glu670Gly	PROT:Q9UQ84	EXO1	E	670	G	E670G	Benign	0	1	26	10
MUT:EXO1:Gly759Glu	PROT:Q9UQ84	EXO1	G	759	E	G759E	Benign/Likely benign	0	1	26	27
MUT:EXO1:His354Arg	PROT:Q9UQ84	EXO1	H	354	R	H354R	Benign	0	1	26	21
MUT:EXO1:Phe455Ser	PROT:Q9UQ84	EXO1	F	455	S	F455S	Likely benign	0	1	26	1
MUT:EXO1:Pro640Ala	PROT:Q9UQ84	EXO1	P	640	A	P640A	Benign	0	1	26	1
MUT:EXO1:Pro640Ser	PROT:Q9UQ84	EXO1	P	640	S	P640S	Benign	0	1	26	1
MUT:EXO1:Ser456Tyr	PROT:Q9UQ84	EXO1	S	456	Y	S456Y	Benign	0	1	26	2
MUT:EXO1:Ser610Gly	PROT:Q9UQ84	EXO1	S	610	G	S610G	Likely benign	0	1	26	0
MUT:EXO1:Thr439Met	PROT:Q9UQ84	EXO1	T	439	M	T439M	Benign	0	1	26	15
MUT:EXO1:Val458Met	PROT:Q9UQ84	EXO1	V	458	M	V458M	Benign	0	1	26	4
MUT:EXO1:Val460Leu	PROT:Q9UQ84	EXO1	V	460	L	V460L	Benign	0	1	26	6
MUT:EXO1:Val76Ile	PROT:Q9UQ84	EXO1	V	76	I	V76I	Benign	0	1	26	299
MUT:EXOC8:Glu319Gln	PROT:Q8IYI6	EXOC8	E	319	Q	E319Q	Likely benign	0	2	16	38
MUT:EXOSC1:Ser35Leu	PROT:Q9Y3B2	EXOSC1	S	35	L	S35L	Pathogenic	1	1	9	3
MUT:EXOSC3:Arg51Gly	PROT:Q9NQT5	EXOSC3	R	51	G	R51G	Likely benign	0	1	4	49
MUT:EXOSC3:Asp132Ala	PROT:Q9NQT5	EXOSC3	D	132	A	D132A	Pathogenic	1	5	4	8
MUT:EXOSC3:Asp161Gly	PROT:Q9NQT5	EXOSC3	D	161	G	D161G	Likely pathogenic	1	1	4	18
MUT:EXOSC3:Asp196Asn	PROT:Q9NQT5	EXOSC3	D	196	N	D196N	Likely benign	0	1	4	53
MUT:EXOSC3:Gly135Glu	PROT:Q9NQT5	EXOSC3	G	135	E	G135E	Likely pathogenic	1	1	4	7
MUT:EXOSC3:Gly191Asp	PROT:Q9NQT5	EXOSC3	G	191	D	G191D	Likely pathogenic	1	1	4	48
MUT:EXOSC3:Gly191Cys	PROT:Q9NQT5	EXOSC3	G	191	C	G191C	Pathogenic	1	1	4	48
MUT:EXOSC3:Gly235Arg	PROT:Q9NQT5	EXOSC3	G	235	R	G235R	Likely pathogenic	1	1	4	92
MUT:EXOSC3:Gly31Ala	PROT:Q9NQT5	EXOSC3	G	31	A	G31A	Pathogenic/Likely pathogenic	1	2	4	29
MUT:EXOSC3:Ile253Val	PROT:Q9NQT5	EXOSC3	I	253	V	I253V	Likely benign	0	2	4	110
MUT:EXOSC3:Met1Arg	PROT:Q9NQT5	EXOSC3	M	1	R	M1R	Likely pathogenic	1	1	4	1
MUT:EXOSC3:Met1Ile	PROT:Q9NQT5	EXOSC3	M	1	I	M1I	Pathogenic	1	1	4	1
MUT:EXOSC3:Met1Leu	PROT:Q9NQT5	EXOSC3	M	1	L	M1L	Pathogenic	1	1	4	1
MUT:EXOSC3:Met1Thr	PROT:Q9NQT5	EXOSC3	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	4	1
MUT:EXOSC3:Met1Val	PROT:Q9NQT5	EXOSC3	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	4	1
MUT:EXOSC3:Trp238Arg	PROT:Q9NQT5	EXOSC3	W	238	R	W238R	Likely pathogenic	1	1	4	95
MUT:EXOSC3:Tyr225His	PROT:Q9NQT5	EXOSC3	Y	225	H	Y225H	Benign	0	1	4	82
MUT:EXOSC3:Val80Phe	PROT:Q9NQT5	EXOSC3	V	80	F	V80F	Pathogenic/Likely pathogenic	1	2	4	44
MUT:EXOSC9:Gly51Arg	PROT:Q06265	EXOSC9	G	51	R	G51R	Pathogenic	1	1	11	1
MUT:EXOSC9:Ile192Met	PROT:Q06265	EXOSC9	I	192	M	I192M	Likely benign	0	4	11	78
MUT:EXOSC9:Ile366Val	PROT:Q06265	EXOSC9	I	366	V	I366V	Benign	0	1	11	13
MUT:EXOSC9:Leu14Pro	PROT:Q06265	EXOSC9	L	14	P	L14P	Pathogenic/Likely pathogenic	1	4	11	10
MUT:EXOSC9:Leu80Arg	PROT:Q06265	EXOSC9	L	80	R	L80R	Pathogenic	1	1	11	28
MUT:EXOSC9:Thr333Pro	PROT:Q06265	EXOSC9	T	333	P	T333P	Benign	0	1	11	13
MUT:EYA2:Leu285Ile	PROT:O00167	EYA2	L	285	I	L285I	Likely benign	0	1	2	28
MUT:EYA4:Asp194Asn	PROT:O95677	EYA4	D	194	N	D194N	Pathogenic/Likely pathogenic	1	1	11	55
MUT:EYA4:Gly277Ser	PROT:O95677	EYA4	G	277	S	G277S	Benign/Likely benign	0	2	11	84
MUT:EYA4:Gly302Asp	PROT:O95677	EYA4	G	302	D	G302D	Benign/Likely benign	0	3	11	59
MUT:EYA4:Thr309Ala	PROT:O95677	EYA4	T	309	A	T309A	Benign/Likely benign	0	1	11	52
MUT:EYA4:Tyr574Lys	PROT:O95677	EYA4	Y	574	K	Y574K	Pathogenic	1	1	11	7
MUT:F10:Ala444Val	PROT:P00742	F10	A	444	V	A444V	Likely pathogenic	1	1	3	37
MUT:F10:Arg287Trp	PROT:P00742	F10	R	287	W	R287W	Pathogenic	1	1	3	42
MUT:F10:Arg346Cys	PROT:P00742	F10	R	346	C	R346C	Likely pathogenic	1	1	3	17
MUT:F10:Arg366Cys	PROT:P00742	F10	R	366	C	R366C	Pathogenic	1	1	3	18
MUT:F10:Arg372Pro	PROT:P00742	F10	R	372	P	R372P	Benign	0	1	3	12
MUT:F10:Arg40Thr	PROT:P00742	F10	R	40	T	R40T	Likely pathogenic	1	1	3	289
MUT:F10:Asp103His	PROT:P00742	F10	D	103	H	D103H	Pathogenic	1	1	3	226
MUT:F10:Asp322Asn	PROT:P00742	F10	D	322	N	D322N	Pathogenic	1	1	3	7
MUT:F10:Asp418His	PROT:P00742	F10	D	418	H	D418H	Likely pathogenic	1	1	3	11
MUT:F10:Asp86Asn	PROT:P00742	F10	D	86	N	D86N	Likely pathogenic	1	1	3	243
MUT:F10:Cys404Arg	PROT:P00742	F10	C	404	R	C404R	Likely pathogenic	1	1	3	3
MUT:F10:Gln30His	PROT:P00742	F10	Q	30	H	Q30H	Benign	0	1	3	299
MUT:F10:Gln98Glu	PROT:P00742	F10	Q	98	E	Q98E	Likely benign	0	1	3	231
MUT:F10:Glu47Gly	PROT:P00742	F10	E	47	G	E47G	Pathogenic	1	1	3	282
MUT:F10:Glu54Gly	PROT:P00742	F10	E	54	G	E54G	Likely pathogenic	1	3	3	275
MUT:F10:Glu56Gly	PROT:P00742	F10	E	56	G	E56G	Likely pathogenic	1	1	3	273
MUT:F10:Glu69Lys	PROT:P00742	F10	E	69	K	E69K	Likely pathogenic	1	1	3	260
MUT:F10:Glu72Gln	PROT:P00742	F10	E	72	Q	E72Q	Pathogenic	1	1	3	257
MUT:F10:Gly168Glu	PROT:P00742	F10	G	168	E	G168E	Likely benign	0	1	3	161
MUT:F10:Gly192Arg	PROT:P00742	F10	G	192	R	G192R	Benign	0	1	3	137
MUT:F10:Gly21Arg	PROT:P00742	F10	G	21	R	G21R	Pathogenic	1	1	3	308
MUT:F10:Gly289Arg	PROT:P00742	F10	G	289	R	G289R	Pathogenic	1	1	3	40
MUT:F10:Gly363Ser	PROT:P00742	F10	G	363	S	G363S	Likely pathogenic	1	1	3	21
MUT:F10:Gly406Ser	PROT:P00742	F10	G	406	S	G406S	Pathogenic	1	1	3	1
MUT:F10:Gly450Arg	PROT:P00742	F10	G	450	R	G450R	Likely pathogenic	1	1	3	43
MUT:F10:Leu272Pro	PROT:P00742	F10	L	272	P	L272P	Likely pathogenic	1	1	3	57
MUT:F10:Phe71Ser	PROT:P00742	F10	F	71	S	F71S	Likely pathogenic	1	1	3	258
MUT:F10:Pro383Ala	PROT:P00742	F10	P	383	A	P383A	Likely pathogenic	1	1	3	1
MUT:F10:Pro383Ser	PROT:P00742	F10	P	383	S	P383S	Pathogenic	1	1	3	1
MUT:F10:Ser374Pro	PROT:P00742	F10	S	374	P	S374P	Pathogenic	1	1	3	10
MUT:F10:Ser93Asn	PROT:P00742	F10	S	93	N	S93N	Likely benign	0	1	3	236
MUT:F10:Thr358Met	PROT:P00742	F10	T	358	M	T358M	Likely pathogenic	1	3	3	26
MUT:F10:Val338Met	PROT:P00742	F10	V	338	M	V338M	Pathogenic	1	1	3	9
MUT:F13A1:Arg261His	PROT:P00488	F13A1	R	261	H	R261H	Pathogenic	1	1	6	100
MUT:F13A1:Arg327Gln	PROT:P00488	F13A1	R	327	Q	R327Q	Pathogenic/Likely pathogenic	1	1	6	166
MUT:F13A1:Arg409Gln	PROT:P00488	F13A1	R	409	Q	R409Q	Likely pathogenic	1	1	6	248
MUT:F13A1:Arg547His	PROT:P00488	F13A1	R	547	H	R547H	Likely benign	0	1	6	131
MUT:F13A1:Arg682His	PROT:P00488	F13A1	R	682	H	R682H	Pathogenic	1	2	6	4
MUT:F13A1:Arg704Trp	PROT:P00488	F13A1	R	704	W	R704W	Likely pathogenic	1	1	6	7
MUT:F13A1:Arg78Cys	PROT:P00488	F13A1	R	78	C	R78C	Pathogenic	1	2	6	26
MUT:F13A1:Arg78His	PROT:P00488	F13A1	R	78	H	R78H	Likely pathogenic	1	1	6	26
MUT:F13A1:Asn198Asp	PROT:P00488	F13A1	N	198	D	N198D	Likely benign	0	1	6	37
MUT:F13A1:Asn61Lys	PROT:P00488	F13A1	N	61	K	N61K	Pathogenic	1	1	6	43
MUT:F13A1:Gln469Glu	PROT:P00488	F13A1	Q	469	E	Q469E	Likely benign	0	1	6	209
MUT:F13A1:Glu44Asp	PROT:P00488	F13A1	E	44	D	E44D	Likely benign	0	1	6	60
MUT:F13A1:Glu652Gln	PROT:P00488	F13A1	E	652	Q	E652Q	Benign/Likely benign	0	1	6	26
MUT:F13A1:Gly274Arg	PROT:P00488	F13A1	G	274	R	G274R	Likely pathogenic	1	1	6	113
MUT:F13A1:Gly313Arg	PROT:P00488	F13A1	G	313	R	G313R	Likely pathogenic	1	1	6	152
MUT:F13A1:Gly563Arg	PROT:P00488	F13A1	G	563	R	G563R	Pathogenic	1	2	6	115
MUT:F13A1:Met243Thr	PROT:P00488	F13A1	M	243	T	M243T	Pathogenic	1	1	6	82
MUT:F13A1:Met513Val	PROT:P00488	F13A1	M	513	V	M513V	Likely benign	0	1	6	165
MUT:F13A1:Ser296Arg	PROT:P00488	F13A1	S	296	R	S296R	Likely pathogenic	1	1	6	135
MUT:F13A1:Ser50Asn	PROT:P00488	F13A1	S	50	N	S50N	Likely benign	0	1	6	54
MUT:F13A1:Thr551Ile	PROT:P00488	F13A1	T	551	I	T551I	Likely benign	0	1	6	127
MUT:F13A1:Trp188Leu	PROT:P00488	F13A1	W	188	L	W188L	Pathogenic	1	1	6	27
MUT:F13A1:Tyr205Phe	PROT:P00488	F13A1	Y	205	F	Y205F	Likely benign	0	1	6	44
MUT:F13A1:Tyr284Cys	PROT:P00488	F13A1	Y	284	C	Y284C	Pathogenic	1	1	6	123
MUT:F13A1:Val317Phe	PROT:P00488	F13A1	V	317	F	V317F	Pathogenic	1	1	6	156
MUT:F13A1:Val415Phe	PROT:P00488	F13A1	V	415	F	V415F	Pathogenic	1	1	6	254
MUT:F13A1:Val651Ile	PROT:P00488	F13A1	V	651	I	V651I	Benign/Likely benign	0	1	6	27
MUT:F13B:Arg115His	PROT:P05160	F13B	R	115	H	R115H	Benign	0	2	1	258
MUT:F13B:Asp569Glu	PROT:P05160	F13B	D	569	E	D569E	Benign/Likely benign	0	1	1	196
MUT:F13B:Cys450Phe	PROT:P05160	F13B	C	450	F	C450F	Pathogenic	1	1	1	77
MUT:F13B:Ile297Thr	PROT:P05160	F13B	I	297	T	I297T	Likely benign	0	1	1	76
MUT:F13B:Lys53Gln	PROT:P05160	F13B	K	53	Q	K53Q	Likely benign	0	1	1	320
MUT:F2:Arg224His	PROT:P00734	F2	R	224	H	R224H	Likely benign	0	1	6	25
MUT:F2:Arg314Cys	PROT:P00734	F2	R	314	C	R314C	Pathogenic	1	2	6	115
MUT:F2:Arg314His	PROT:P00734	F2	R	314	H	R314H	Likely pathogenic	1	1	6	115
MUT:F2:Arg425Cys	PROT:P00734	F2	R	425	C	R425C	Likely pathogenic	1	1	6	9
MUT:F2:Arg425His	PROT:P00734	F2	R	425	H	R425H	Pathogenic	1	1	6	9
MUT:F2:Arg431His	PROT:P00734	F2	R	431	H	R431H	Pathogenic	1	1	6	3
MUT:F2:Arg461Trp	PROT:P00734	F2	R	461	W	R461W	Pathogenic/Likely pathogenic	1	1	6	27
MUT:F2:Arg500Gln	PROT:P00734	F2	R	500	Q	R500Q	Pathogenic	1	2	6	39
MUT:F2:Arg581Cys	PROT:P00734	F2	R	581	C	R581C	Pathogenic/Likely pathogenic	1	1	6	18
MUT:F2:Arg596Gln	PROT:P00734	F2	R	596	Q	R596Q	Pathogenic	1	2	6	3
MUT:F2:Arg596Leu	PROT:P00734	F2	R	596	L	R596L	Pathogenic	1	1	6	3
MUT:F2:Arg596Trp	PROT:P00734	F2	R	596	W	R596W	Pathogenic	1	1	6	3
MUT:F2:Asp216Glu	PROT:P00734	F2	D	216	E	D216E	Likely benign	0	2	6	17
MUT:F2:Asp595Glu	PROT:P00734	F2	D	595	E	D595E	Pathogenic	1	1	6	4
MUT:F2:Glu343Lys	PROT:P00734	F2	E	343	K	E343K	Pathogenic	1	1	6	91
MUT:F2:Glu352Lys	PROT:P00734	F2	E	352	K	E352K	Pathogenic	1	1	6	82
MUT:F2:Glu357Gly	PROT:P00734	F2	E	357	G	E357G	Likely pathogenic	1	1	6	77
MUT:F2:Gly332Ala	PROT:P00734	F2	G	332	A	G332A	Likely pathogenic	1	1	6	102
MUT:F2:Gly499Glu	PROT:P00734	F2	G	499	E	G499E	Likely pathogenic	1	1	6	40
MUT:F2:Gly601Val	PROT:P00734	F2	G	601	V	G601V	Pathogenic	1	1	6	2
MUT:F2:Leu609Pro	PROT:P00734	F2	L	609	P	L609P	Likely pathogenic	1	1	6	10
MUT:F2:Met380Thr	PROT:P00734	F2	M	380	T	M380T	Pathogenic	1	1	6	54
MUT:F2:Met466Leu	PROT:P00734	F2	M	466	L	M466L	Likely benign	0	1	6	32
MUT:F2:Phe578Leu	PROT:P00734	F2	F	578	L	F578L	Likely benign	0	1	6	21
MUT:F2:Thr165Met	PROT:P00734	F2	T	165	M	T165M	Benign/Likely benign	0	2	6	31
MUT:F2:Tyr87Cys	PROT:P00734	F2	Y	87	C	Y87C	Likely pathogenic	1	2	6	109
MUT:F2:Val365Glu	PROT:P00734	F2	V	365	E	V365E	Likely pathogenic	1	1	6	69
MUT:F2:Val424Met	PROT:P00734	F2	V	424	M	V424M	Likely pathogenic	1	1	6	10
MUT:F8:Ala111Thr	PROT:P00451	F8	A	111	T	A111T	Likely pathogenic	1	1	12	92
MUT:F8:Ala1610Ser	PROT:P00451	F8	A	1610	S	A1610S	Likely benign	0	2	12	4
MUT:F8:Ala1843Thr	PROT:P00451	F8	A	1843	T	A1843T	Likely pathogenic	1	1	12	80
MUT:F8:Ala1853Val	PROT:P00451	F8	A	1853	V	A1853V	Likely pathogenic	1	1	12	90
MUT:F8:Ala2211Pro	PROT:P00451	F8	A	2211	P	A2211P	Pathogenic	1	1	12	221
MUT:F8:Ala2220Pro	PROT:P00451	F8	A	2220	P	A2220P	Pathogenic	1	1	12	230
MUT:F8:Ala2227Thr	PROT:P00451	F8	A	2227	T	A2227T	Pathogenic/Likely pathogenic	1	1	12	237
MUT:F8:Ala2237Thr	PROT:P00451	F8	A	2237	T	A2237T	Likely pathogenic	1	1	12	247
MUT:F8:Ala2237Val	PROT:P00451	F8	A	2237	V	A2237V	Likely pathogenic	1	1	12	247
MUT:F8:Ala303Glu	PROT:P00451	F8	A	303	E	A303E	Likely pathogenic	1	1	12	125
MUT:F8:Ala415Asp	PROT:P00451	F8	A	415	D	A415D	Likely pathogenic	1	1	12	13
MUT:F8:Ala415Val	PROT:P00451	F8	A	415	V	A415V	Pathogenic	1	1	12	13
MUT:F8:Ala663Val	PROT:P00451	F8	A	663	V	A663V	Pathogenic	1	1	12	212
MUT:F8:Ala723Thr	PROT:P00451	F8	A	723	T	A723T	Pathogenic	1	2	12	272
MUT:F8:Arg1079Lys	PROT:P00451	F8	R	1079	K	R1079K	Benign/Likely benign	0	1	12	66
MUT:F8:Arg1126Trp	PROT:P00451	F8	R	1126	W	R1126W	Likely benign	0	2	12	113
MUT:F8:Arg1425Lys	PROT:P00451	F8	R	1425	K	R1425K	Likely benign	0	1	12	180
MUT:F8:Arg1708Cys	PROT:P00451	F8	R	1708	C	R1708C	Pathogenic	1	2	12	20
MUT:F8:Arg1708His	PROT:P00451	F8	R	1708	H	R1708H	Pathogenic/Likely pathogenic	1	3	12	20
MUT:F8:Arg1715Gly	PROT:P00451	F8	R	1715	G	R1715G	Likely pathogenic	1	1	12	13
MUT:F8:Arg1740Gly	PROT:P00451	F8	R	1740	G	R1740G	Pathogenic	1	1	12	12
MUT:F8:Arg1740Met	PROT:P00451	F8	R	1740	M	R1740M	Likely pathogenic	1	1	12	12
MUT:F8:Arg1768Cys	PROT:P00451	F8	R	1768	C	R1768C	Pathogenic/Likely pathogenic	1	1	12	5
MUT:F8:Arg1768His	PROT:P00451	F8	R	1768	H	R1768H	Pathogenic	1	2	12	5
MUT:F8:Arg1800Cys	PROT:P00451	F8	R	1800	C	R1800C	Pathogenic	1	1	12	37
MUT:F8:Arg1800Gly	PROT:P00451	F8	R	1800	G	R1800G	Pathogenic	1	1	12	37
MUT:F8:Arg1800His	PROT:P00451	F8	R	1800	H	R1800H	Pathogenic	1	2	12	37
MUT:F8:Arg1936Cys	PROT:P00451	F8	R	1936	C	R1936C	Pathogenic	1	1	12	11
MUT:F8:Arg1936His	PROT:P00451	F8	R	1936	H	R1936H	Likely benign	0	1	12	11
MUT:F8:Arg1960Gln	PROT:P00451	F8	R	1960	Q	R1960Q	Pathogenic/Likely pathogenic	1	1	12	13
MUT:F8:Arg1960Leu	PROT:P00451	F8	R	1960	L	R1960L	Pathogenic	1	1	12	13
MUT:F8:Arg1985Gln	PROT:P00451	F8	R	1985	Q	R1985Q	Pathogenic/Likely pathogenic	1	2	12	5
MUT:F8:Arg1985Gly	PROT:P00451	F8	R	1985	G	R1985G	Likely pathogenic	1	1	12	5
MUT:F8:Arg1985Pro	PROT:P00451	F8	R	1985	P	R1985P	Likely pathogenic	1	1	12	5
MUT:F8:Arg2016Gln	PROT:P00451	F8	R	2016	Q	R2016Q	Likely pathogenic	1	1	12	26
MUT:F8:Arg2016Trp	PROT:P00451	F8	R	2016	W	R2016W	Pathogenic	1	2	12	26
MUT:F8:Arg2109Cys	PROT:P00451	F8	R	2109	C	R2109C	Likely pathogenic	1	1	12	119
MUT:F8:Arg2135Pro	PROT:P00451	F8	R	2135	P	R2135P	Pathogenic	1	1	12	145
MUT:F8:Arg2169Cys	PROT:P00451	F8	R	2169	C	R2169C	Pathogenic	1	1	12	179
MUT:F8:Arg2169His	PROT:P00451	F8	R	2169	H	R2169H	Pathogenic	1	2	12	179
MUT:F8:Arg2169Leu	PROT:P00451	F8	R	2169	L	R2169L	Pathogenic/Likely pathogenic	1	1	12	179
MUT:F8:Arg2178Cys	PROT:P00451	F8	R	2178	C	R2178C	Pathogenic/Likely pathogenic	1	1	12	188
MUT:F8:Arg2178His	PROT:P00451	F8	R	2178	H	R2178H	Pathogenic/Likely pathogenic	1	2	12	188
MUT:F8:Arg2178Leu	PROT:P00451	F8	R	2178	L	R2178L	Pathogenic	1	1	12	188
MUT:F8:Arg2182Cys	PROT:P00451	F8	R	2182	C	R2182C	Pathogenic	1	2	12	192
MUT:F8:Arg2182His	PROT:P00451	F8	R	2182	H	R2182H	Pathogenic	1	1	12	192
MUT:F8:Arg2182Leu	PROT:P00451	F8	R	2182	L	R2182L	Likely pathogenic	1	1	12	192
MUT:F8:Arg2228Gln	PROT:P00451	F8	R	2228	Q	R2228Q	Pathogenic	1	2	12	238
MUT:F8:Arg2228Gly	PROT:P00451	F8	R	2228	G	R2228G	Pathogenic	1	1	12	238
MUT:F8:Arg2228Leu	PROT:P00451	F8	R	2228	L	R2228L	Pathogenic	1	1	12	238
MUT:F8:Arg2323Cys	PROT:P00451	F8	R	2323	C	R2323C	Pathogenic/Likely pathogenic	1	1	12	333
MUT:F8:Arg2323His	PROT:P00451	F8	R	2323	H	R2323H	Pathogenic/Likely pathogenic	1	1	12	333
MUT:F8:Arg2323Pro	PROT:P00451	F8	R	2323	P	R2323P	Likely pathogenic	1	1	12	333
MUT:F8:Arg2326Gln	PROT:P00451	F8	R	2326	Q	R2326Q	Pathogenic/Likely pathogenic	1	2	12	336
MUT:F8:Arg2326Leu	PROT:P00451	F8	R	2326	L	R2326L	Pathogenic	1	1	12	336
MUT:F8:Arg2326Pro	PROT:P00451	F8	R	2326	P	R2326P	Likely pathogenic	1	1	12	336
MUT:F8:Arg2339Met	PROT:P00451	F8	R	2339	M	R2339M	Likely pathogenic	1	1	12	349
MUT:F8:Arg2339Trp	PROT:P00451	F8	R	2339	W	R2339W	Likely pathogenic	1	1	12	349
MUT:F8:Arg245Trp	PROT:P00451	F8	R	245	W	R245W	Pathogenic/Likely pathogenic	1	2	12	183
MUT:F8:Arg301Cys	PROT:P00451	F8	R	301	C	R301C	Pathogenic	1	1	12	127
MUT:F8:Arg301His	PROT:P00451	F8	R	301	H	R301H	Pathogenic	1	3	12	127
MUT:F8:Arg301Leu	PROT:P00451	F8	R	301	L	R301L	Pathogenic	1	1	12	127
MUT:F8:Arg355Gln	PROT:P00451	F8	R	355	Q	R355Q	Likely benign	0	1	12	73
MUT:F8:Arg391Cys	PROT:P00451	F8	R	391	C	R391C	Pathogenic	1	1	12	37
MUT:F8:Arg391His	PROT:P00451	F8	R	391	H	R391H	Pathogenic	1	3	12	37
MUT:F8:Arg458Cys	PROT:P00451	F8	R	458	C	R458C	Pathogenic	1	1	12	7
MUT:F8:Arg458His	PROT:P00451	F8	R	458	H	R458H	Likely pathogenic	1	1	12	7
MUT:F8:Arg48Lys	PROT:P00451	F8	R	48	K	R48K	Likely pathogenic	1	2	12	29
MUT:F8:Arg503His	PROT:P00451	F8	R	503	H	R503H	Benign	0	2	12	52
MUT:F8:Arg546Trp	PROT:P00451	F8	R	546	W	R546W	Pathogenic/Likely pathogenic	1	3	12	95
MUT:F8:Arg550Cys	PROT:P00451	F8	R	550	C	R550C	Pathogenic/Likely pathogenic	1	2	12	99
MUT:F8:Arg550Gly	PROT:P00451	F8	R	550	G	R550G	Likely pathogenic	1	1	12	99
MUT:F8:Arg550His	PROT:P00451	F8	R	550	H	R550H	Pathogenic	1	2	12	99
MUT:F8:Arg590Ser	PROT:P00451	F8	R	590	S	R590S	Pathogenic	1	1	12	139
MUT:F8:Arg602Gln	PROT:P00451	F8	R	602	Q	R602Q	Likely benign	0	1	12	151
MUT:F8:Arg602Gly	PROT:P00451	F8	R	602	G	R602G	Pathogenic/Likely pathogenic	1	2	12	151
MUT:F8:Arg612Cys	PROT:P00451	F8	R	612	C	R612C	Pathogenic	1	5	12	161
MUT:F8:Arg612Leu	PROT:P00451	F8	R	612	L	R612L	Likely pathogenic	1	1	12	161
MUT:F8:Arg717Gln	PROT:P00451	F8	R	717	Q	R717Q	Pathogenic/Likely pathogenic	1	2	12	266
MUT:F8:Arg717Trp	PROT:P00451	F8	R	717	W	R717W	Pathogenic/Likely pathogenic	1	4	12	266
MUT:F8:Arg795Gly	PROT:P00451	F8	R	795	G	R795G	Benign	0	2	12	218
MUT:F8:Asn1295Lys	PROT:P00451	F8	N	1295	K	N1295K	Likely benign	0	1	12	282
MUT:F8:Asn1941Asp	PROT:P00451	F8	N	1941	D	N1941D	Pathogenic	1	1	12	6
MUT:F8:Asn1941Ser	PROT:P00451	F8	N	1941	S	N1941S	Pathogenic	1	1	12	6
MUT:F8:Asn2038Ser	PROT:P00451	F8	N	2038	S	N2038S	Pathogenic	1	1	12	48
MUT:F8:Asn2148Ser	PROT:P00451	F8	N	2148	S	N2148S	Pathogenic/Likely pathogenic	1	1	12	158
MUT:F8:Asn2157Ser	PROT:P00451	F8	N	2157	S	N2157S	Likely pathogenic	1	1	12	167
MUT:F8:Asn254Asp	PROT:P00451	F8	N	254	D	N254D	Pathogenic	1	1	12	174
MUT:F8:Asn299Ile	PROT:P00451	F8	N	299	I	N299I	Pathogenic	1	1	12	129
MUT:F8:Asn609His	PROT:P00451	F8	N	609	H	N609H	Likely pathogenic	1	1	12	158
MUT:F8:Asn631Ser	PROT:P00451	F8	N	631	S	N631S	Pathogenic	1	1	12	180
MUT:F8:Asn637Ser	PROT:P00451	F8	N	637	S	N637S	Pathogenic/Likely pathogenic	1	1	12	186
MUT:F8:Asn703Asp	PROT:P00451	F8	N	703	D	N703D	Likely pathogenic	1	1	12	252
MUT:F8:Asn713Ile	PROT:P00451	F8	N	713	I	N713I	Likely pathogenic	1	1	12	262
MUT:F8:Asp101Gly	PROT:P00451	F8	D	101	G	D101G	Pathogenic	1	1	12	82
MUT:F8:Asp1260Glu	PROT:P00451	F8	D	1260	E	D1260E	Benign	0	1	12	247
MUT:F8:Asp135Gly	PROT:P00451	F8	D	135	G	D135G	Pathogenic	1	1	12	116
MUT:F8:Asp135Tyr	PROT:P00451	F8	D	135	Y	D135Y	Likely pathogenic	1	1	12	116
MUT:F8:Asp1503Gly	PROT:P00451	F8	D	1503	G	D1503G	Likely benign	0	1	12	102
MUT:F8:Asp1814Val	PROT:P00451	F8	D	1814	V	D1814V	Likely pathogenic	1	1	12	51
MUT:F8:Asp1865Asn	PROT:P00451	F8	D	1865	N	D1865N	Pathogenic	1	1	12	82
MUT:F8:Asp1865Tyr	PROT:P00451	F8	D	1865	Y	D1865Y	Pathogenic	1	1	12	82
MUT:F8:Asp186Glu	PROT:P00451	F8	D	186	E	D186E	Likely pathogenic	1	1	12	167
MUT:F8:Asp186Gly	PROT:P00451	F8	D	186	G	D186G	Likely pathogenic	1	1	12	167
MUT:F8:Asp2093Gly	PROT:P00451	F8	D	2093	G	D2093G	Pathogenic	1	1	12	103
MUT:F8:Asp2093Tyr	PROT:P00451	F8	D	2093	Y	D2093Y	Likely pathogenic	1	1	12	103
MUT:F8:Asp2206Gly	PROT:P00451	F8	D	2206	G	D2206G	Likely pathogenic	1	1	12	216
MUT:F8:Asp222Ala	PROT:P00451	F8	D	222	A	D222A	Likely pathogenic	1	1	12	203
MUT:F8:Asp222Val	PROT:P00451	F8	D	222	V	D222V	Pathogenic	1	2	12	203
MUT:F8:Asp2307Ala	PROT:P00451	F8	D	2307	A	D2307A	Pathogenic/Likely pathogenic	1	2	12	317
MUT:F8:Asp411Gly	PROT:P00451	F8	D	411	G	D411G	Likely pathogenic	1	1	12	17
MUT:F8:Asp422Asn	PROT:P00451	F8	D	422	N	D422N	Likely benign	0	1	12	6
MUT:F8:Asp544Asn	PROT:P00451	F8	D	544	N	D544N	Pathogenic	1	1	12	93
MUT:F8:Asp561Gly	PROT:P00451	F8	D	561	G	D561G	Pathogenic	1	1	12	110
MUT:F8:Asp579Gly	PROT:P00451	F8	D	579	G	D579G	Likely pathogenic	1	1	12	128
MUT:F8:Asp845Glu	PROT:P00451	F8	D	845	E	D845E	Likely benign	0	2	12	168
MUT:F8:Cys198Gly	PROT:P00451	F8	C	198	G	C198G	Likely pathogenic	1	1	12	179
MUT:F8:Cys2040Gly	PROT:P00451	F8	C	2040	G	C2040G	Likely pathogenic	1	2	12	50
MUT:F8:Cys2040Tyr	PROT:P00451	F8	C	2040	Y	C2040Y	Likely pathogenic	1	1	12	50
MUT:F8:Cys2345Arg	PROT:P00451	F8	C	2345	R	C2345R	Likely pathogenic	1	1	12	355
MUT:F8:Cys329Arg	PROT:P00451	F8	C	329	R	C329R	Pathogenic	1	1	12	99
MUT:F8:Cys329Tyr	PROT:P00451	F8	C	329	Y	C329Y	Likely pathogenic	1	1	12	99
MUT:F8:Cys348Ser	PROT:P00451	F8	C	348	S	C348S	Pathogenic	1	1	12	80
MUT:F8:Gln1764Arg	PROT:P00451	F8	Q	1764	R	Q1764R	Pathogenic	1	1	12	1
MUT:F8:Gln2208Arg	PROT:P00451	F8	Q	2208	R	Q2208R	Likely pathogenic	1	2	12	218
MUT:F8:Gln2208Glu	PROT:P00451	F8	Q	2208	E	Q2208E	Pathogenic	1	1	12	218
MUT:F8:Gln2208Pro	PROT:P00451	F8	Q	2208	P	Q2208P	Likely pathogenic	1	1	12	218
MUT:F8:Gln2265Arg	PROT:P00451	F8	Q	2265	R	Q2265R	Pathogenic	1	1	12	275
MUT:F8:Gln584Lys	PROT:P00451	F8	Q	584	K	Q584K	Pathogenic	1	1	12	133
MUT:F8:Gln664Pro	PROT:P00451	F8	Q	664	P	Q664P	Pathogenic	1	1	12	213
MUT:F8:Glu1057Lys	PROT:P00451	F8	E	1057	K	E1057K	Benign	0	2	12	44
MUT:F8:Glu1094Lys	PROT:P00451	F8	E	1094	K	E1094K	Benign	0	1	12	81
MUT:F8:Glu1701Lys	PROT:P00451	F8	E	1701	K	E1701K	Likely pathogenic	1	2	12	27
MUT:F8:Glu1723Lys	PROT:P00451	F8	E	1723	K	E1723K	Pathogenic	1	1	12	5
MUT:F8:Glu1770Lys	PROT:P00451	F8	E	1770	K	E1770K	Likely pathogenic	1	1	12	7
MUT:F8:Glu1904Lys	PROT:P00451	F8	E	1904	K	E1904K	Pathogenic	1	1	12	43
MUT:F8:Glu200Gly	PROT:P00451	F8	E	200	G	E200G	Pathogenic	1	2	12	181
MUT:F8:Glu2018Lys	PROT:P00451	F8	E	2018	K	E2018K	Likely pathogenic	1	1	12	28
MUT:F8:Glu2184Gln	PROT:P00451	F8	E	2184	Q	E2184Q	Likely pathogenic	1	2	12	194
MUT:F8:Glu2184Gly	PROT:P00451	F8	E	2184	G	E2184G	Likely pathogenic	1	1	12	194
MUT:F8:Glu2341Lys	PROT:P00451	F8	E	2341	K	E2341K	Likely pathogenic	1	1	12	351
MUT:F8:Glu291Gly	PROT:P00451	F8	E	291	G	E291G	Pathogenic	1	1	12	137
MUT:F8:Glu30Val	PROT:P00451	F8	E	30	V	E30V	Pathogenic	1	1	12	11
MUT:F8:Glu340Asp	PROT:P00451	F8	E	340	D	E340D	Pathogenic	1	1	12	88
MUT:F8:Glu409Gly	PROT:P00451	F8	E	409	G	E409G	Pathogenic	1	1	12	19
MUT:F8:Glu475Lys	PROT:P00451	F8	E	475	K	E475K	Likely pathogenic	1	1	12	24
MUT:F8:Glu739Lys	PROT:P00451	F8	E	739	K	E739K	Pathogenic	1	2	12	274
MUT:F8:Glu98Lys	PROT:P00451	F8	E	98	K	E98K	Likely pathogenic	1	1	12	79
MUT:F8:Gly130Arg	PROT:P00451	F8	G	130	R	G130R	Pathogenic	1	1	12	111
MUT:F8:Gly164Val	PROT:P00451	F8	G	164	V	G164V	Pathogenic	1	1	12	145
MUT:F8:Gly1729Glu	PROT:P00451	F8	G	1729	E	G1729E	Likely pathogenic	1	1	12	1
MUT:F8:Gly1769Arg	PROT:P00451	F8	G	1769	R	G1769R	Pathogenic	1	1	12	6
MUT:F8:Gly1769Glu	PROT:P00451	F8	G	1769	E	G1769E	Likely pathogenic	1	1	12	6
MUT:F8:Gly1779Arg	PROT:P00451	F8	G	1779	R	G1779R	Pathogenic	1	1	12	16
MUT:F8:Gly1779Glu	PROT:P00451	F8	G	1779	E	G1779E	Pathogenic	1	1	12	16
MUT:F8:Gly190Asp	PROT:P00451	F8	G	190	D	G190D	Likely pathogenic	1	1	12	171
MUT:F8:Gly193Glu	PROT:P00451	F8	G	193	E	G193E	Likely pathogenic	1	1	12	174
MUT:F8:Gly1967Asp	PROT:P00451	F8	G	1967	D	G1967D	Pathogenic	1	1	12	20
MUT:F8:Gly2000Ala	PROT:P00451	F8	G	2000	A	G2000A	Likely pathogenic	1	1	12	10
MUT:F8:Gly2000Val	PROT:P00451	F8	G	2000	V	G2000V	Pathogenic	1	2	12	10
MUT:F8:Gly201Arg	PROT:P00451	F8	G	201	R	G201R	Likely pathogenic	1	1	12	182
MUT:F8:Gly201Trp	PROT:P00451	F8	G	201	W	G201W	Likely pathogenic	1	2	12	182
MUT:F8:Gly2028Arg	PROT:P00451	F8	G	2028	R	G2028R	Pathogenic	1	1	12	38
MUT:F8:Gly2102Asp	PROT:P00451	F8	G	2102	D	G2102D	Likely pathogenic	1	1	12	112
MUT:F8:Gly2102Ser	PROT:P00451	F8	G	2102	S	G2102S	Likely benign	0	2	12	112
MUT:F8:Gly2107Ser	PROT:P00451	F8	G	2107	S	G2107S	Pathogenic	1	1	12	117
MUT:F8:Gly2198Arg	PROT:P00451	F8	G	2198	R	G2198R	Likely pathogenic	1	1	12	208
MUT:F8:Gly2198Glu	PROT:P00451	F8	G	2198	E	G2198E	Likely pathogenic	1	1	12	208
MUT:F8:Gly2233Trp	PROT:P00451	F8	G	2233	W	G2233W	Likely pathogenic	1	1	12	243
MUT:F8:Gly224Trp	PROT:P00451	F8	G	224	W	G224W	Pathogenic	1	1	12	204
MUT:F8:Gly2344Asp	PROT:P00451	F8	G	2344	D	G2344D	Likely pathogenic	1	1	12	354
MUT:F8:Gly266Glu	PROT:P00451	F8	G	266	E	G266E	Likely pathogenic	1	1	12	162
MUT:F8:Gly278Arg	PROT:P00451	F8	G	278	R	G278R	Pathogenic	1	1	12	150
MUT:F8:Gly27Cys	PROT:P00451	F8	G	27	C	G27C	Likely pathogenic	1	1	12	8
MUT:F8:Gly323Arg	PROT:P00451	F8	G	323	R	G323R	Likely pathogenic	1	1	12	105
MUT:F8:Gly41Cys	PROT:P00451	F8	G	41	C	G41C	Likely benign	0	2	12	22
MUT:F8:Gly439Val	PROT:P00451	F8	G	439	V	G439V	Pathogenic	1	1	12	3
MUT:F8:Gly474Arg	PROT:P00451	F8	G	474	R	G474R	Likely pathogenic	1	1	12	23
MUT:F8:Gly474Glu	PROT:P00451	F8	G	474	E	G474E	Pathogenic	1	1	12	23
MUT:F8:Gly474Trp	PROT:P00451	F8	G	474	W	G474W	Likely pathogenic	1	1	12	23
MUT:F8:Gly477Val	PROT:P00451	F8	G	477	V	G477V	Likely pathogenic	1	1	12	26
MUT:F8:Gly498Arg	PROT:P00451	F8	G	498	R	G498R	Pathogenic	1	2	12	47
MUT:F8:Gly705Arg	PROT:P00451	F8	G	705	R	G705R	Likely pathogenic	1	1	12	254
MUT:F8:Gly89Asp	PROT:P00451	F8	G	89	D	G89D	Pathogenic	1	1	12	70
MUT:F8:Gly92Val	PROT:P00451	F8	G	92	V	G92V	Pathogenic	1	1	12	73
MUT:F8:His113Arg	PROT:P00451	F8	H	113	R	H113R	Pathogenic	1	1	12	94
MUT:F8:His1938Arg	PROT:P00451	F8	H	1938	R	H1938R	Likely pathogenic	1	1	12	9
MUT:F8:His1973Leu	PROT:P00451	F8	H	1973	L	H1973L	Pathogenic/Likely pathogenic	1	2	12	17
MUT:F8:His1980Arg	PROT:P00451	F8	H	1980	R	H1980R	Likely pathogenic	1	1	12	10
MUT:F8:His1980Tyr	PROT:P00451	F8	H	1980	Y	H1980Y	Pathogenic	1	1	12	10
MUT:F8:His2101Asp	PROT:P00451	F8	H	2101	D	H2101D	Likely pathogenic	1	1	12	111
MUT:F8:His228Pro	PROT:P00451	F8	H	228	P	H228P	Likely pathogenic	1	1	12	200
MUT:F8:His634Arg	PROT:P00451	F8	H	634	R	H634R	Likely pathogenic	1	1	12	183
MUT:F8:His998Gln	PROT:P00451	F8	H	998	Q	H998Q	Benign/Likely benign	0	1	12	15
MUT:F8:Ile1698Thr	PROT:P00451	F8	I	1698	T	I1698T	Likely pathogenic	1	1	12	30
MUT:F8:Ile192Thr	PROT:P00451	F8	I	192	T	I192T	Pathogenic	1	1	12	173
MUT:F8:Ile1959Phe	PROT:P00451	F8	I	1959	F	I1959F	Likely pathogenic	1	1	12	12
MUT:F8:Ile2099Asn	PROT:P00451	F8	I	2099	N	I2099N	Likely pathogenic	1	1	12	109
MUT:F8:Ile215Val	PROT:P00451	F8	I	215	V	I215V	Likely benign	0	1	12	196
MUT:F8:Ile331Thr	PROT:P00451	F8	I	331	T	I331T	Likely pathogenic	1	1	12	97
MUT:F8:Ile390Thr	PROT:P00451	F8	I	390	T	I390T	Likely pathogenic	1	1	12	38
MUT:F8:Ile405Ser	PROT:P00451	F8	I	405	S	I405S	Likely pathogenic	1	1	12	23
MUT:F8:Ile405Thr	PROT:P00451	F8	I	405	T	I405T	Pathogenic	1	1	12	23
MUT:F8:Ile494Ser	PROT:P00451	F8	I	494	S	I494S	Likely pathogenic	1	1	12	43
MUT:F8:Ile494Thr	PROT:P00451	F8	I	494	T	I494T	Pathogenic	1	1	12	43
MUT:F8:Ile567Thr	PROT:P00451	F8	I	567	T	I567T	Likely pathogenic	1	2	12	116
MUT:F8:Ile585Thr	PROT:P00451	F8	I	585	T	I585T	Pathogenic	1	1	12	134
MUT:F8:Ile636Thr	PROT:P00451	F8	I	636	T	I636T	Likely pathogenic	1	1	12	185
MUT:F8:Leu117Arg	PROT:P00451	F8	L	117	R	L117R	Pathogenic	1	1	12	98
MUT:F8:Leu173Phe	PROT:P00451	F8	L	173	F	L173F	Likely pathogenic	1	1	12	154
MUT:F8:Leu1775Phe	PROT:P00451	F8	L	1775	F	L1775F	Pathogenic	1	1	12	12
MUT:F8:Leu1775Val	PROT:P00451	F8	L	1775	V	L1775V	Pathogenic	1	1	12	12
MUT:F8:Leu1808Phe	PROT:P00451	F8	L	1808	F	L1808F	Likely pathogenic	1	1	12	45
MUT:F8:Leu1948Pro	PROT:P00451	F8	L	1948	P	L1948P	Likely pathogenic	1	1	12	1
MUT:F8:Leu1951Phe	PROT:P00451	F8	L	1951	F	L1951F	Pathogenic	1	1	12	4
MUT:F8:Leu217Arg	PROT:P00451	F8	L	217	R	L217R	Likely pathogenic	1	1	12	198
MUT:F8:Leu217Pro	PROT:P00451	F8	L	217	P	L217P	Likely pathogenic	1	1	12	198
MUT:F8:Leu2181His	PROT:P00451	F8	L	2181	H	L2181H	Likely pathogenic	1	1	12	191
MUT:F8:Leu2185Ser	PROT:P00451	F8	L	2185	S	L2185S	Pathogenic	1	1	12	195
MUT:F8:Leu2229Phe	PROT:P00451	F8	L	2229	F	L2229F	Pathogenic/Likely pathogenic	1	1	12	239
MUT:F8:Leu2229Pro	PROT:P00451	F8	L	2229	P	L2229P	Pathogenic/Likely pathogenic	1	1	12	239
MUT:F8:Leu2271Pro	PROT:P00451	F8	L	2271	P	L2271P	Likely pathogenic	1	1	12	281
MUT:F8:Leu26Arg	PROT:P00451	F8	L	26	R	L26R	Pathogenic	1	1	12	7
MUT:F8:Leu327Gln	PROT:P00451	F8	L	327	Q	L327Q	Likely pathogenic	1	1	12	101
MUT:F8:Leu327Pro	PROT:P00451	F8	L	327	P	L327P	Likely pathogenic	1	1	12	101
MUT:F8:Leu327Val	PROT:P00451	F8	L	327	V	L327V	Pathogenic	1	3	12	101
MUT:F8:Leu431Phe	PROT:P00451	F8	L	431	F	L431F	Pathogenic	1	1	12	3
MUT:F8:Leu566Phe	PROT:P00451	F8	L	566	F	L566F	Pathogenic	1	1	12	115
MUT:F8:Leu644Val	PROT:P00451	F8	L	644	V	L644V	Likely pathogenic	1	1	12	193
MUT:F8:Leu69Pro	PROT:P00451	F8	L	69	P	L69P	Pathogenic	1	1	12	50
MUT:F8:Lys108Thr	PROT:P00451	F8	K	108	T	K108T	Likely pathogenic	1	2	12	89
MUT:F8:Lys126Arg	PROT:P00451	F8	K	126	R	K126R	Likely pathogenic	1	1	12	107
MUT:F8:Lys1638Glu	PROT:P00451	F8	K	1638	E	K1638E	Likely benign	0	1	12	24
MUT:F8:Lys185Thr	PROT:P00451	F8	K	185	T	K185T	Pathogenic	1	1	12	166
MUT:F8:Lys2091Asn	PROT:P00451	F8	K	2091	N	K2091N	Likely pathogenic	1	1	12	101
MUT:F8:Lys444Arg	PROT:P00451	F8	K	444	R	K444R	Likely pathogenic	1	1	12	2
MUT:F8:Met110Val	PROT:P00451	F8	M	110	V	M110V	Pathogenic	1	1	12	91
MUT:F8:Met1791Thr	PROT:P00451	F8	M	1791	T	M1791T	Pathogenic	1	1	12	28
MUT:F8:Met1842Ile	PROT:P00451	F8	M	1842	I	M1842I	Pathogenic	1	1	12	79
MUT:F8:Met1966Leu	PROT:P00451	F8	M	1966	L	M1966L	Likely pathogenic	1	1	12	19
MUT:F8:Met2183Val	PROT:P00451	F8	M	2183	V	M2183V	Pathogenic/Likely pathogenic	1	2	12	193
MUT:F8:Met2257Val	PROT:P00451	F8	M	2257	V	M2257V	Benign	0	1	12	267
MUT:F8:Met279Arg	PROT:P00451	F8	M	279	R	M279R	Likely pathogenic	1	1	12	149
MUT:F8:Met339Val	PROT:P00451	F8	M	339	V	M339V	Pathogenic	1	1	12	89
MUT:F8:Met633Arg	PROT:P00451	F8	M	633	R	M633R	Likely pathogenic	1	1	12	182
MUT:F8:Met633Ile	PROT:P00451	F8	M	633	I	M633I	Pathogenic	1	1	12	182
MUT:F8:Met681Ile	PROT:P00451	F8	M	681	I	M681I	Pathogenic	1	2	12	230
MUT:F8:Met701Val	PROT:P00451	F8	M	701	V	M701V	Likely pathogenic	1	1	12	250
MUT:F8:Met721Ile	PROT:P00451	F8	M	721	I	M721I	Pathogenic	1	1	12	270
MUT:F8:Met721Thr	PROT:P00451	F8	M	721	T	M721T	Pathogenic	1	1	12	270
MUT:F8:Phe2120Leu	PROT:P00451	F8	F	2120	L	F2120L	Pathogenic	1	1	12	130
MUT:F8:Phe2145Cys	PROT:P00451	F8	F	2145	C	F2145C	Pathogenic	1	1	12	155
MUT:F8:Phe2145Ser	PROT:P00451	F8	F	2145	S	F2145S	Pathogenic	1	1	12	155
MUT:F8:Phe2146Ser	PROT:P00451	F8	F	2146	S	F2146S	Likely pathogenic	1	1	12	156
MUT:F8:Phe214Val	PROT:P00451	F8	F	214	V	F214V	Likely pathogenic	1	1	12	195
MUT:F8:Phe312Ser	PROT:P00451	F8	F	312	S	F312S	Pathogenic/Likely pathogenic	1	2	12	116
MUT:F8:Phe328Leu	PROT:P00451	F8	F	328	L	F328L	Likely pathogenic	1	1	12	100
MUT:F8:Phe455Cys	PROT:P00451	F8	F	455	C	F455C	Pathogenic	1	1	12	4
MUT:F8:Phe595Ser	PROT:P00451	F8	F	595	S	F595S	Pathogenic	1	1	12	144
MUT:F8:Phe677Leu	PROT:P00451	F8	F	677	L	F677L	Pathogenic	1	1	12	226
MUT:F8:Phe73Leu	PROT:P00451	F8	F	73	L	F73L	Likely pathogenic	1	1	12	54
MUT:F8:Phe895Leu	PROT:P00451	F8	F	895	L	F895L	Likely benign	0	1	12	118
MUT:F8:Pro1560Arg	PROT:P00451	F8	P	1560	R	P1560R	Likely benign	0	1	12	45
MUT:F8:Pro1560Ser	PROT:P00451	F8	P	1560	S	P1560S	Likely benign	0	1	12	45
MUT:F8:Pro165Ser	PROT:P00451	F8	P	165	S	P165S	Pathogenic/Likely pathogenic	1	1	12	146
MUT:F8:Pro1844Ser	PROT:P00451	F8	P	1844	S	P1844S	Likely pathogenic	1	2	12	81
MUT:F8:Pro1873Arg	PROT:P00451	F8	P	1873	R	P1873R	Pathogenic	1	1	12	74
MUT:F8:Pro1873Leu	PROT:P00451	F8	P	1873	L	P1873L	Pathogenic	1	1	12	74
MUT:F8:Pro2172Gln	PROT:P00451	F8	P	2172	Q	P2172Q	Pathogenic	1	1	12	182
MUT:F8:Pro2240Leu	PROT:P00451	F8	P	2240	L	P2240L	Likely pathogenic	1	1	12	250
MUT:F8:Pro2311His	PROT:P00451	F8	P	2311	H	P2311H	Pathogenic/Likely pathogenic	1	2	12	321
MUT:F8:Pro2319Leu	PROT:P00451	F8	P	2319	L	P2319L	Pathogenic	1	2	12	329
MUT:F8:Pro2319Ser	PROT:P00451	F8	P	2319	S	P2319S	Pathogenic/Likely pathogenic	1	1	12	329
MUT:F8:Pro262Ala	PROT:P00451	F8	P	262	A	P262A	Likely pathogenic	1	1	12	166
MUT:F8:Ser112Phe	PROT:P00451	F8	S	112	F	S112F	Pathogenic/Likely pathogenic	1	1	12	93
MUT:F8:Ser128Pro	PROT:P00451	F8	S	128	P	S128P	Likely pathogenic	1	1	12	109
MUT:F8:Ser1445Pro	PROT:P00451	F8	S	1445	P	S1445P	Likely benign	0	2	12	160
MUT:F8:Ser1688Leu	PROT:P00451	F8	S	1688	L	S1688L	Likely benign	0	1	12	40
MUT:F8:Ser1803Tyr	PROT:P00451	F8	S	1803	Y	S1803Y	Pathogenic	1	1	12	40
MUT:F8:Ser189Leu	PROT:P00451	F8	S	189	L	S189L	Likely pathogenic	1	1	12	170
MUT:F8:Ser1907Arg	PROT:P00451	F8	S	1907	R	S1907R	Likely pathogenic	1	1	12	40
MUT:F8:Ser19Arg	PROT:P00451	F8	S	19	R	S19R	Likely pathogenic	1	1	12	0
MUT:F8:Ser202Arg	PROT:P00451	F8	S	202	R	S202R	Likely pathogenic	1	1	12	183
MUT:F8:Ser202Asn	PROT:P00451	F8	S	202	N	S202N	Likely pathogenic	1	1	12	183
MUT:F8:Ser2030Asn	PROT:P00451	F8	S	2030	N	S2030N	Pathogenic/Likely pathogenic	1	4	12	40
MUT:F8:Ser2088Phe	PROT:P00451	F8	S	2088	F	S2088F	Pathogenic	1	1	12	98
MUT:F8:Ser2125Arg	PROT:P00451	F8	S	2125	R	S2125R	Likely pathogenic	1	1	12	135
MUT:F8:Ser2138Tyr	PROT:P00451	F8	S	2138	Y	S2138Y	Pathogenic	1	1	12	148
MUT:F8:Ser2152Pro	PROT:P00451	F8	S	2152	P	S2152P	Likely pathogenic	1	1	12	162
MUT:F8:Ser2192Arg	PROT:P00451	F8	S	2192	R	S2192R	Likely pathogenic	1	1	12	202
MUT:F8:Ser2213Phe	PROT:P00451	F8	S	2213	F	S2213F	Pathogenic	1	1	12	223
MUT:F8:Ser308Leu	PROT:P00451	F8	S	308	L	S308L	Pathogenic	1	2	12	120
MUT:F8:Ser308Trp	PROT:P00451	F8	S	308	W	S308W	Likely pathogenic	1	1	12	120
MUT:F8:Ser392Leu	PROT:P00451	F8	S	392	L	S392L	Likely pathogenic	1	1	12	36
MUT:F8:Ser392Pro	PROT:P00451	F8	S	392	P	S392P	Pathogenic	1	1	12	36
MUT:F8:Ser554Gly	PROT:P00451	F8	S	554	G	S554G	Pathogenic	1	2	12	103
MUT:F8:Ser577Phe	PROT:P00451	F8	S	577	F	S577F	Pathogenic	1	1	12	126
MUT:F8:Ser577Pro	PROT:P00451	F8	S	577	P	S577P	Pathogenic	1	1	12	126
MUT:F8:Ser603Ile	PROT:P00451	F8	S	603	I	S603I	Pathogenic	1	1	12	152
MUT:F8:Ser700Leu	PROT:P00451	F8	S	700	L	S700L	Likely pathogenic	1	1	12	249
MUT:F8:Thr1022Ala	PROT:P00451	F8	T	1022	A	T1022A	Likely benign	0	1	12	9
MUT:F8:Thr1367Ser	PROT:P00451	F8	T	1367	S	T1367S	Pathogenic	1	1	12	238
MUT:F8:Thr137Ala	PROT:P00451	F8	T	137	A	T137A	Likely pathogenic	1	1	12	118
MUT:F8:Thr154Ala	PROT:P00451	F8	T	154	A	T154A	Likely pathogenic	1	1	12	135
MUT:F8:Thr154Pro	PROT:P00451	F8	T	154	P	T154P	Likely pathogenic	1	1	12	135
MUT:F8:Thr174Ala	PROT:P00451	F8	T	174	A	T174A	Likely pathogenic	1	1	12	155
MUT:F8:Thr1845Pro	PROT:P00451	F8	T	1845	P	T1845P	Pathogenic	1	1	12	82
MUT:F8:Thr2173Ile	PROT:P00451	F8	T	2173	I	T2173I	Pathogenic	1	1	12	183
MUT:F8:Thr252Ile	PROT:P00451	F8	T	252	I	T252I	Likely pathogenic	1	1	12	176
MUT:F8:Thr294Ile	PROT:P00451	F8	T	294	I	T294I	Pathogenic	1	1	12	134
MUT:F8:Thr314Ala	PROT:P00451	F8	T	314	A	T314A	Pathogenic/Likely pathogenic	1	1	12	114
MUT:F8:Thr541Ser	PROT:P00451	F8	T	541	S	T541S	Pathogenic/Likely pathogenic	1	2	12	90
MUT:F8:Thr696Ile	PROT:P00451	F8	T	696	I	T696I	Pathogenic	1	1	12	245
MUT:F8:Thr818Ile	PROT:P00451	F8	T	818	I	T818I	Benign	0	1	12	195
MUT:F8:Thr949Ile	PROT:P00451	F8	T	949	I	T949I	Likely benign	0	1	12	64
MUT:F8:Trp1836Arg	PROT:P00451	F8	W	1836	R	W1836R	Likely pathogenic	1	1	12	73
MUT:F8:Trp1961Arg	PROT:P00451	F8	W	1961	R	W1961R	Likely pathogenic	1	2	12	14
MUT:F8:Trp2015Arg	PROT:P00451	F8	W	2015	R	W2015R	Likely pathogenic	1	1	12	25
MUT:F8:Trp2065Arg	PROT:P00451	F8	W	2065	R	W2065R	Pathogenic	1	1	12	75
MUT:F8:Trp2248Cys	PROT:P00451	F8	W	2248	C	W2248C	Pathogenic	1	2	12	258
MUT:F8:Trp2290Arg	PROT:P00451	F8	W	2290	R	W2290R	Pathogenic	1	1	12	300
MUT:F8:Trp604Cys	PROT:P00451	F8	W	604	C	W604C	Pathogenic	1	1	12	153
MUT:F8:Tyr133Cys	PROT:P00451	F8	Y	133	C	Y133C	Pathogenic	1	1	12	114
MUT:F8:Tyr1699Cys	PROT:P00451	F8	Y	1699	C	Y1699C	Likely pathogenic	1	1	12	29
MUT:F8:Tyr1699Phe	PROT:P00451	F8	Y	1699	F	Y1699F	Pathogenic	1	1	12	29
MUT:F8:Tyr1699Ser	PROT:P00451	F8	Y	1699	S	Y1699S	Likely pathogenic	1	1	12	29
MUT:F8:Tyr1728Cys	PROT:P00451	F8	Y	1728	C	Y1728C	Pathogenic	1	1	12	0
MUT:F8:Tyr175Cys	PROT:P00451	F8	Y	175	C	Y175C	Likely pathogenic	1	1	12	156
MUT:F8:Tyr1998Cys	PROT:P00451	F8	Y	1998	C	Y1998C	Pathogenic/Likely pathogenic	1	1	12	8
MUT:F8:Tyr1998Phe	PROT:P00451	F8	Y	1998	F	Y1998F	Likely benign	0	1	12	8
MUT:F8:Tyr2036Cys	PROT:P00451	F8	Y	2036	C	Y2036C	Likely pathogenic	1	1	12	46
MUT:F8:Tyr2124Cys	PROT:P00451	F8	Y	2124	C	Y2124C	Pathogenic/Likely pathogenic	1	1	12	134
MUT:F8:Tyr256Asn	PROT:P00451	F8	Y	256	N	Y256N	Likely pathogenic	1	1	12	172
MUT:F8:Tyr25Cys	PROT:P00451	F8	Y	25	C	Y25C	Likely pathogenic	1	1	12	6
MUT:F8:Tyr35Cys	PROT:P00451	F8	Y	35	C	Y35C	Pathogenic	1	1	12	16
MUT:F8:Tyr365Cys	PROT:P00451	F8	Y	365	C	Y365C	Pathogenic	1	4	12	63
MUT:F8:Tyr414Asp	PROT:P00451	F8	Y	414	D	Y414D	Likely pathogenic	1	1	12	14
MUT:F8:Tyr414Cys	PROT:P00451	F8	Y	414	C	Y414C	Likely pathogenic	1	1	12	14
MUT:F8:Tyr450Asn	PROT:P00451	F8	Y	450	N	Y450N	Likely pathogenic	1	1	12	0
MUT:F8:Tyr473Cys	PROT:P00451	F8	Y	473	C	Y473C	Pathogenic	1	1	12	22
MUT:F8:Tyr473His	PROT:P00451	F8	Y	473	H	Y473H	Pathogenic	1	1	12	22
MUT:F8:Tyr492His	PROT:P00451	F8	Y	492	H	Y492H	Pathogenic	1	1	12	41
MUT:F8:Tyr552Cys	PROT:P00451	F8	Y	552	C	Y552C	Likely pathogenic	1	1	12	101
MUT:F8:Tyr552His	PROT:P00451	F8	Y	552	H	Y552H	Likely pathogenic	1	1	12	101
MUT:F8:Tyr605Cys	PROT:P00451	F8	Y	605	C	Y605C	Pathogenic	1	1	12	154
MUT:F8:Tyr605Ser	PROT:P00451	F8	Y	605	S	Y605S	Pathogenic	1	1	12	154
MUT:F8:Tyr683Cys	PROT:P00451	F8	Y	683	C	Y683C	Pathogenic	1	1	12	232
MUT:F8:Val103Ala	PROT:P00451	F8	V	103	A	V103A	Likely pathogenic	1	1	12	84
MUT:F8:Val104Asp	PROT:P00451	F8	V	104	D	V104D	Pathogenic	1	1	12	85
MUT:F8:Val1540Met	PROT:P00451	F8	V	1540	M	V1540M	Likely benign	0	1	12	65
MUT:F8:Val159Asp	PROT:P00451	F8	V	159	D	V159D	Likely pathogenic	1	1	12	140
MUT:F8:Val181Met	PROT:P00451	F8	V	181	M	V181M	Pathogenic	1	3	12	162
MUT:F8:Val1952Glu	PROT:P00451	F8	V	1952	E	V1952E	Pathogenic	1	1	12	5
MUT:F8:Val2035Ala	PROT:P00451	F8	V	2035	A	V2035A	Pathogenic	1	2	12	45
MUT:F8:Val2092Glu	PROT:P00451	F8	V	2092	E	V2092E	Likely pathogenic	1	1	12	102
MUT:F8:Val2242Met	PROT:P00451	F8	V	2242	M	V2242M	Benign	0	1	12	252
MUT:F8:Val2251Ala	PROT:P00451	F8	V	2251	A	V2251A	Pathogenic	1	1	12	261
MUT:F8:Val2259Asp	PROT:P00451	F8	V	2259	D	V2259D	Likely pathogenic	1	1	12	269
MUT:F8:Val285Gly	PROT:P00451	F8	V	285	G	V285G	Pathogenic	1	1	12	143
MUT:F8:Val285Met	PROT:P00451	F8	V	285	M	V285M	Likely pathogenic	1	1	12	143
MUT:F8:Val345Leu	PROT:P00451	F8	V	345	L	V345L	Pathogenic	1	1	12	83
MUT:F8:Val502Phe	PROT:P00451	F8	V	502	F	V502F	Likely pathogenic	1	1	12	51
MUT:F8:Val653Ala	PROT:P00451	F8	V	653	A	V653A	Pathogenic	1	1	12	202
MUT:F8:Val653Met	PROT:P00451	F8	V	653	M	V653M	Pathogenic	1	1	12	202
MUT:F8:Val682Ala	PROT:P00451	F8	V	682	A	V682A	Likely pathogenic	1	1	12	231
MUT:F8:Val682Phe	PROT:P00451	F8	V	682	F	V682F	Pathogenic	1	1	12	231
MUT:F8:Val697Ala	PROT:P00451	F8	V	697	A	V697A	Likely pathogenic	1	1	12	246
MUT:F8:Val983Ile	PROT:P00451	F8	V	983	I	V983I	Benign	0	1	12	30
MUT:F8:Val99Ala	PROT:P00451	F8	V	99	A	V99A	Pathogenic	1	1	12	80
MUT:F8:Val99Asp	PROT:P00451	F8	V	99	D	V99D	Pathogenic	1	1	12	80
MUT:F9:Ala173Gly	PROT:P00740	F9	A	173	G	A173G	Likely pathogenic	1	1	5	31
MUT:F9:Ala192Pro	PROT:P00740	F9	A	192	P	A192P	Likely pathogenic	1	1	5	12
MUT:F9:Ala233Thr	PROT:P00740	F9	A	233	T	A233T	Pathogenic	1	1	5	28
MUT:F9:Ala266Thr	PROT:P00740	F9	A	266	T	A266T	Likely pathogenic	1	1	5	61
MUT:F9:Ala279Pro	PROT:P00740	F9	A	279	P	A279P	Likely pathogenic	1	1	5	74
MUT:F9:Ala279Thr	PROT:P00740	F9	A	279	T	A279T	Pathogenic	1	3	5	74
MUT:F9:Ala317Val	PROT:P00740	F9	A	317	V	A317V	Pathogenic/Likely pathogenic	1	1	5	54
MUT:F9:Ala337Pro	PROT:P00740	F9	A	337	P	A337P	Likely pathogenic	1	1	5	34
MUT:F9:Ala337Thr	PROT:P00740	F9	A	337	T	A337T	Pathogenic	1	2	5	34
MUT:F9:Ala337Val	PROT:P00740	F9	A	337	V	A337V	Pathogenic	1	1	5	34
MUT:F9:Ala37Val	PROT:P00740	F9	A	37	V	A37V	Pathogenic	1	1	5	77
MUT:F9:Ala380Thr	PROT:P00740	F9	A	380	T	A380T	Pathogenic	1	1	5	1
MUT:F9:Ala397Pro	PROT:P00740	F9	A	397	P	A397P	Pathogenic	1	1	5	16
MUT:F9:Ala397Val	PROT:P00740	F9	A	397	V	A397V	Pathogenic	1	1	5	16
MUT:F9:Ala436Glu	PROT:P00740	F9	A	436	E	A436E	Pathogenic	1	1	5	55
MUT:F9:Ala436Thr	PROT:P00740	F9	A	436	T	A436T	Pathogenic	1	1	5	55
MUT:F9:Ala436Val	PROT:P00740	F9	A	436	V	A436V	Pathogenic	1	1	5	55
MUT:F9:Arg140Ser	PROT:P00740	F9	R	140	S	R140S	Likely pathogenic	1	1	5	26
MUT:F9:Arg191Cys	PROT:P00740	F9	R	191	C	R191C	Pathogenic/Likely pathogenic	1	1	5	13
MUT:F9:Arg191His	PROT:P00740	F9	R	191	H	R191H	Pathogenic	1	3	5	13
MUT:F9:Arg226Gln	PROT:P00740	F9	R	226	Q	R226Q	Pathogenic	1	3	5	21
MUT:F9:Arg226Trp	PROT:P00740	F9	R	226	W	R226W	Pathogenic/Likely pathogenic	1	2	5	21
MUT:F9:Arg294Gln	PROT:P00740	F9	R	294	Q	R294Q	Pathogenic	1	2	5	77
MUT:F9:Arg294Leu	PROT:P00740	F9	R	294	L	R294L	Pathogenic	1	1	5	77
MUT:F9:Arg379Gln	PROT:P00740	F9	R	379	Q	R379Q	Pathogenic	1	2	5	2
MUT:F9:Arg379Leu	PROT:P00740	F9	R	379	L	R379L	Pathogenic	1	1	5	2
MUT:F9:Arg384Gln	PROT:P00740	F9	R	384	Q	R384Q	Benign	0	2	5	3
MUT:F9:Arg384Leu	PROT:P00740	F9	R	384	L	R384L	Pathogenic	1	2	5	3
MUT:F9:Arg384Pro	PROT:P00740	F9	R	384	P	R384P	Pathogenic	1	1	5	3
MUT:F9:Arg3Cys	PROT:P00740	F9	R	3	C	R3C	Benign	0	1	5	111
MUT:F9:Arg3His	PROT:P00740	F9	R	3	H	R3H	Benign	0	2	5	111
MUT:F9:Arg3Ser	PROT:P00740	F9	R	3	S	R3S	Likely benign	0	1	5	111
MUT:F9:Arg43Gln	PROT:P00740	F9	R	43	Q	R43Q	Pathogenic/Likely pathogenic	1	1	5	71
MUT:F9:Arg43Leu	PROT:P00740	F9	R	43	L	R43L	Pathogenic	1	1	5	71
MUT:F9:Arg43Trp	PROT:P00740	F9	R	43	W	R43W	Pathogenic	1	1	5	71
MUT:F9:Arg46Ser	PROT:P00740	F9	R	46	S	R46S	Pathogenic	1	1	5	68
MUT:F9:Arg75Gln	PROT:P00740	F9	R	75	Q	R75Q	Pathogenic	1	2	5	39
MUT:F9:Asn138His	PROT:P00740	F9	N	138	H	N138H	Pathogenic	1	1	5	24
MUT:F9:Asn166Tyr	PROT:P00740	F9	N	166	Y	N166Y	Pathogenic	1	1	5	38
MUT:F9:Asn306Ser	PROT:P00740	F9	N	306	S	N306S	Likely pathogenic	1	1	5	65
MUT:F9:Asn36Asp	PROT:P00740	F9	N	36	D	N36D	Likely benign	0	1	5	78
MUT:F9:Asn392Asp	PROT:P00740	F9	N	392	D	N392D	Pathogenic/Likely pathogenic	1	1	5	11
MUT:F9:Asn48Asp	PROT:P00740	F9	N	48	D	N48D	Pathogenic	1	1	5	66
MUT:F9:Asn48Tyr	PROT:P00740	F9	N	48	Y	N48Y	Pathogenic	1	1	5	66
MUT:F9:Asp110Asn	PROT:P00740	F9	D	110	N	D110N	Pathogenic	1	1	5	4
MUT:F9:Asp110Gly	PROT:P00740	F9	D	110	G	D110G	Pathogenic	1	1	5	4
MUT:F9:Asp315Glu	PROT:P00740	F9	D	315	E	D315E	Likely pathogenic	1	1	5	56
MUT:F9:Asp315Gly	PROT:P00740	F9	D	315	G	D315G	Pathogenic	1	1	5	56
MUT:F9:Asp410His	PROT:P00740	F9	D	410	H	D410H	Pathogenic	1	1	5	29
MUT:F9:Asp93Asn	PROT:P00740	F9	D	93	N	D93N	Pathogenic	1	1	5	21
MUT:F9:Asp93Gly	PROT:P00740	F9	D	93	G	D93G	Pathogenic	1	1	5	21
MUT:F9:Asp95Ala	PROT:P00740	F9	D	95	A	D95A	Likely pathogenic	1	1	5	19
MUT:F9:Asp95Val	PROT:P00740	F9	D	95	V	D95V	Likely pathogenic	1	1	5	19
MUT:F9:Cys119Tyr	PROT:P00740	F9	C	119	Y	C119Y	Pathogenic	1	1	5	5
MUT:F9:Cys128Arg	PROT:P00740	F9	C	128	R	C128R	Likely pathogenic	1	1	5	14
MUT:F9:Cys134Ser	PROT:P00740	F9	C	134	S	C134S	Pathogenic	1	1	5	20
MUT:F9:Cys155Ser	PROT:P00740	F9	C	155	S	C155S	Likely pathogenic	1	1	5	41
MUT:F9:Cys157Tyr	PROT:P00740	F9	C	157	Y	C157Y	Pathogenic	1	1	5	43
MUT:F9:Cys178Arg	PROT:P00740	F9	C	178	R	C178R	Pathogenic	1	1	5	26
MUT:F9:Cys178Tyr	PROT:P00740	F9	C	178	Y	C178Y	Pathogenic	1	1	5	26
MUT:F9:Cys18Arg	PROT:P00740	F9	C	18	R	C18R	Pathogenic	1	1	5	96
MUT:F9:Cys252Ser	PROT:P00740	F9	C	252	S	C252S	Pathogenic	1	1	5	47
MUT:F9:Cys252Trp	PROT:P00740	F9	C	252	W	C252W	Likely pathogenic	1	1	5	47
MUT:F9:Cys252Tyr	PROT:P00740	F9	C	252	Y	C252Y	Pathogenic	1	1	5	47
MUT:F9:Cys268Arg	PROT:P00740	F9	C	268	R	C268R	Likely pathogenic	1	1	5	63
MUT:F9:Cys268Gly	PROT:P00740	F9	C	268	G	C268G	Likely pathogenic	1	1	5	63
MUT:F9:Cys268Ser	PROT:P00740	F9	C	268	S	C268S	Likely pathogenic	1	2	5	63
MUT:F9:Cys268Tyr	PROT:P00740	F9	C	268	Y	C268Y	Pathogenic	1	1	5	63
MUT:F9:Cys28Arg	PROT:P00740	F9	C	28	R	C28R	Pathogenic	1	1	5	86
MUT:F9:Cys28Tyr	PROT:P00740	F9	C	28	Y	C28Y	Pathogenic	1	1	5	86
MUT:F9:Cys335Phe	PROT:P00740	F9	C	335	F	C335F	Likely pathogenic	1	1	5	36
MUT:F9:Cys335Trp	PROT:P00740	F9	C	335	W	C335W	Likely pathogenic	1	1	5	36
MUT:F9:Cys335Tyr	PROT:P00740	F9	C	335	Y	C335Y	Likely pathogenic	1	1	5	36
MUT:F9:Cys382Arg	PROT:P00740	F9	C	382	R	C382R	Pathogenic	1	1	5	1
MUT:F9:Cys396Ser	PROT:P00740	F9	C	396	S	C396S	Pathogenic	1	1	5	15
MUT:F9:Cys396Tyr	PROT:P00740	F9	C	396	Y	C396Y	Pathogenic	1	1	5	15
MUT:F9:Cys407Ser	PROT:P00740	F9	C	407	S	C407S	Likely pathogenic	1	1	5	26
MUT:F9:Cys435Gly	PROT:P00740	F9	C	435	G	C435G	Likely pathogenic	1	1	5	54
MUT:F9:Cys435Tyr	PROT:P00740	F9	C	435	Y	C435Y	Pathogenic	1	1	5	54
MUT:F9:Cys64Arg	PROT:P00740	F9	C	64	R	C64R	Likely pathogenic	1	1	5	50
MUT:F9:Cys64Tyr	PROT:P00740	F9	C	64	Y	C64Y	Pathogenic	1	1	5	50
MUT:F9:Gln167His	PROT:P00740	F9	Q	167	H	Q167H	Pathogenic	1	1	5	37
MUT:F9:Gln237Leu	PROT:P00740	F9	Q	237	L	Q237L	Pathogenic	1	1	5	32
MUT:F9:Gln96Pro	PROT:P00740	F9	Q	96	P	Q96P	Likely pathogenic	1	1	5	18
MUT:F9:Glu291Val	PROT:P00740	F9	E	291	V	E291V	Pathogenic	1	1	5	80
MUT:F9:Glu320Gly	PROT:P00740	F9	E	320	G	E320G	Likely pathogenic	1	1	5	51
MUT:F9:Glu323Lys	PROT:P00740	F9	E	323	K	E323K	Benign/Likely benign	0	2	5	48
MUT:F9:Glu433Gly	PROT:P00740	F9	E	433	G	E433G	Likely pathogenic	1	1	5	52
MUT:F9:Glu54Lys	PROT:P00740	F9	E	54	K	E54K	Pathogenic	1	1	5	60
MUT:F9:Glu66Asp	PROT:P00740	F9	E	66	D	E66D	Pathogenic	1	1	5	48
MUT:F9:Glu66Lys	PROT:P00740	F9	E	66	K	E66K	Likely pathogenic	1	1	5	48
MUT:F9:Glu66Val	PROT:P00740	F9	E	66	V	E66V	Likely pathogenic	1	1	5	48
MUT:F9:Glu73Val	PROT:P00740	F9	E	73	V	E73V	Pathogenic	1	1	5	41
MUT:F9:Glu79Asp	PROT:P00740	F9	E	79	D	E79D	Pathogenic	1	1	5	35
MUT:F9:Glu79Val	PROT:P00740	F9	E	79	V	E79V	Likely pathogenic	1	1	5	35
MUT:F9:Gly105Asp	PROT:P00740	F9	G	105	D	G105D	Likely pathogenic	1	1	5	9
MUT:F9:Gly105Val	PROT:P00740	F9	G	105	V	G105V	Likely pathogenic	1	1	5	9
MUT:F9:Gly106Ser	PROT:P00740	F9	G	106	S	G106S	Pathogenic	1	3	5	8
MUT:F9:Gly122Val	PROT:P00740	F9	G	122	V	G122V	Likely pathogenic	1	1	5	8
MUT:F9:Gly125Arg	PROT:P00740	F9	G	125	R	G125R	Likely pathogenic	1	1	5	11
MUT:F9:Gly139Asp	PROT:P00740	F9	G	139	D	G139D	Pathogenic/Likely pathogenic	1	1	5	25
MUT:F9:Gly160Ala	PROT:P00740	F9	G	160	A	G160A	Pathogenic	1	1	5	44
MUT:F9:Gly160Arg	PROT:P00740	F9	G	160	R	G160R	Likely pathogenic	1	1	5	44
MUT:F9:Gly160Glu	PROT:P00740	F9	G	160	E	G160E	Likely pathogenic	1	1	5	44
MUT:F9:Gly230Arg	PROT:P00740	F9	G	230	R	G230R	Pathogenic	1	1	5	25
MUT:F9:Gly236Leu	PROT:P00740	F9	G	236	L	G236L	Likely pathogenic	1	1	5	31
MUT:F9:Gly253Arg	PROT:P00740	F9	G	253	R	G253R	Likely pathogenic	1	1	5	48
MUT:F9:Gly254Ser	PROT:P00740	F9	G	254	S	G254S	Pathogenic	1	1	5	49
MUT:F9:Gly280Ala	PROT:P00740	F9	G	280	A	G280A	Likely pathogenic	1	1	5	75
MUT:F9:Gly280Asp	PROT:P00740	F9	G	280	D	G280D	Pathogenic	1	1	5	75
MUT:F9:Gly355Val	PROT:P00740	F9	G	355	V	G355V	Pathogenic	1	1	5	16
MUT:F9:Gly357Arg	PROT:P00740	F9	G	357	R	G357R	Pathogenic/Likely pathogenic	1	2	5	14
MUT:F9:Gly357Glu	PROT:P00740	F9	G	357	E	G357E	Pathogenic	1	1	5	14
MUT:F9:Gly357Val	PROT:P00740	F9	G	357	V	G357V	Pathogenic	1	1	5	14
MUT:F9:Gly398Val	PROT:P00740	F9	G	398	V	G398V	Likely pathogenic	1	1	5	17
MUT:F9:Gly402Arg	PROT:P00740	F9	G	402	R	G402R	Likely pathogenic	1	1	5	21
MUT:F9:Gly409Val	PROT:P00740	F9	G	409	V	G409V	Likely pathogenic	1	1	5	28
MUT:F9:Gly412Glu	PROT:P00740	F9	G	412	E	G412E	Pathogenic	1	1	5	31
MUT:F9:Gly432Ala	PROT:P00740	F9	G	432	A	G432A	Likely pathogenic	1	1	5	51
MUT:F9:Gly432Ser	PROT:P00740	F9	G	432	S	G432S	Pathogenic	1	1	5	51
MUT:F9:Gly442Ala	PROT:P00740	F9	G	442	A	G442A	Likely pathogenic	1	1	5	61
MUT:F9:Gly442Arg	PROT:P00740	F9	G	442	R	G442R	Pathogenic	1	1	5	61
MUT:F9:Gly442Glu	PROT:P00740	F9	G	442	E	G442E	Likely pathogenic	1	1	5	61
MUT:F9:Gly442Val	PROT:P00740	F9	G	442	V	G442V	Likely pathogenic	1	1	5	61
MUT:F9:Gly50Ala	PROT:P00740	F9	G	50	A	G50A	Likely pathogenic	1	1	5	64
MUT:F9:Gly50Asp	PROT:P00740	F9	G	50	D	G50D	Likely pathogenic	1	1	5	64
MUT:F9:Gly50Ser	PROT:P00740	F9	G	50	S	G50S	Pathogenic	1	1	5	64
MUT:F9:Gly94Arg	PROT:P00740	F9	G	94	R	G94R	Likely pathogenic	1	1	5	20
MUT:F9:His282Tyr	PROT:P00740	F9	H	282	Y	H282Y	Likely benign	0	1	5	77
MUT:F9:His303Tyr	PROT:P00740	F9	H	303	Y	H303Y	Benign/Likely benign	0	3	5	68
MUT:F9:Ile136Thr	PROT:P00740	F9	I	136	T	I136T	Likely pathogenic	1	2	5	22
MUT:F9:Ile316Thr	PROT:P00740	F9	I	316	T	I316T	Pathogenic/Likely pathogenic	1	1	5	55
MUT:F9:Ile344Thr	PROT:P00740	F9	I	344	T	I344T	Pathogenic	1	1	5	27
MUT:F9:Ile390Phe	PROT:P00740	F9	I	390	F	I390F	Likely pathogenic	1	1	5	9
MUT:F9:Ile443Thr	PROT:P00740	F9	I	443	T	I443T	Pathogenic/Likely pathogenic	1	1	5	62
MUT:F9:Ile7Phe	PROT:P00740	F9	I	7	F	I7F	Benign	0	3	5	107
MUT:F9:Leu20Ser	PROT:P00740	F9	L	20	S	L20S	Pathogenic	1	1	5	94
MUT:F9:Leu23Pro	PROT:P00740	F9	L	23	P	L23P	Pathogenic	1	1	5	91
MUT:F9:Leu244Ser	PROT:P00740	F9	L	244	S	L244S	Pathogenic/Likely pathogenic	1	1	5	39
MUT:F9:Leu318Arg	PROT:P00740	F9	L	318	R	L318R	Likely pathogenic	1	1	5	53
MUT:F9:Leu318Phe	PROT:P00740	F9	L	318	F	L318F	Pathogenic	1	1	5	53
MUT:F9:Leu369Pro	PROT:P00740	F9	L	369	P	L369P	Likely pathogenic	1	2	5	2
MUT:F9:Leu372Pro	PROT:P00740	F9	L	372	P	L372P	Likely pathogenic	1	1	5	1
MUT:F9:Leu383His	PROT:P00740	F9	L	383	H	L383H	Pathogenic	1	1	5	2
MUT:F9:Leu52Ser	PROT:P00740	F9	L	52	S	L52S	Likely pathogenic	1	1	5	62
MUT:F9:Lys362Glu	PROT:P00740	F9	K	362	E	K362E	Likely pathogenic	1	1	5	9
MUT:F9:Lys39Arg	PROT:P00740	F9	K	39	R	K39R	Likely benign	0	1	5	75
MUT:F9:Met394Ile	PROT:P00740	F9	M	394	I	M394I	Pathogenic	1	1	5	13
MUT:F9:Met394Val	PROT:P00740	F9	M	394	V	M394V	Pathogenic	1	1	5	13
MUT:F9:Phe123Ser	PROT:P00740	F9	F	123	S	F123S	Likely pathogenic	1	1	5	9
MUT:F9:Phe238Val	PROT:P00740	F9	F	238	V	F238V	Benign	0	1	5	33
MUT:F9:Phe360Ser	PROT:P00740	F9	F	360	S	F360S	Likely pathogenic	1	1	5	11
MUT:F9:Phe395Ile	PROT:P00740	F9	F	395	I	F395I	Pathogenic	1	1	5	14
MUT:F9:Phe424Leu	PROT:P00740	F9	F	424	L	F424L	Likely pathogenic	1	1	5	43
MUT:F9:Phe55Ile	PROT:P00740	F9	F	55	I	F55I	Pathogenic/Likely pathogenic	1	1	5	59
MUT:F9:Pro101Ala	PROT:P00740	F9	P	101	A	P101A	Pathogenic	1	1	5	13
MUT:F9:Pro101Gln	PROT:P00740	F9	P	101	Q	P101Q	Likely pathogenic	1	1	5	13
MUT:F9:Pro175Ser	PROT:P00740	F9	P	175	S	P175S	Benign	0	1	5	29
MUT:F9:Pro197Ser	PROT:P00740	F9	P	197	S	P197S	Likely benign	0	1	5	7
MUT:F9:Pro333Leu	PROT:P00740	F9	P	333	L	P333L	Pathogenic	1	1	5	38
MUT:F9:Pro414Thr	PROT:P00740	F9	P	414	T	P414T	Pathogenic	1	1	5	33
MUT:F9:Pro44Ser	PROT:P00740	F9	P	44	S	P44S	Likely benign	0	1	5	70
MUT:F9:Ser169Pro	PROT:P00740	F9	S	169	P	S169P	Likely pathogenic	1	1	5	35
MUT:F9:Ser220Thr	PROT:P00740	F9	S	220	T	S220T	Benign/Likely benign	0	2	5	15
MUT:F9:Ser354Arg	PROT:P00740	F9	S	354	R	S354R	Pathogenic	1	1	5	17
MUT:F9:Ser406Leu	PROT:P00740	F9	S	406	L	S406L	Pathogenic	1	1	5	25
MUT:F9:Ser411Arg	PROT:P00740	F9	S	411	R	S411R	Pathogenic	1	1	5	30
MUT:F9:Ser411Gly	PROT:P00740	F9	S	411	G	S411G	Pathogenic	1	1	5	30
MUT:F9:Ser411Ile	PROT:P00740	F9	S	411	I	S411I	Pathogenic	1	1	5	30
MUT:F9:Thr194Ala	PROT:P00740	F9	T	194	A	T194A	Benign	0	3	5	10
MUT:F9:Thr29Ile	PROT:P00740	F9	T	29	I	T29I	Likely pathogenic	1	1	5	85
MUT:F9:Thr342Ala	PROT:P00740	F9	T	342	A	T342A	Likely pathogenic	1	1	5	29
MUT:F9:Thr342Met	PROT:P00740	F9	T	342	M	T342M	Pathogenic	1	3	5	29
MUT:F9:Thr461Pro	PROT:P00740	F9	T	461	P	T461P	Benign	0	1	5	80
MUT:F9:Thr84Ala	PROT:P00740	F9	T	84	A	T84A	Likely benign	0	1	5	30
MUT:F9:Thr84Ile	PROT:P00740	F9	T	84	I	T84I	Likely pathogenic	1	1	5	30
MUT:F9:Trp240Gly	PROT:P00740	F9	W	240	G	W240G	Likely pathogenic	1	1	5	35
MUT:F9:Trp431Cys	PROT:P00740	F9	W	431	C	W431C	Pathogenic	1	1	5	50
MUT:F9:Trp453Arg	PROT:P00740	F9	W	453	R	W453R	Pathogenic	1	1	5	72
MUT:F9:Tyr115Cys	PROT:P00740	F9	Y	115	C	Y115C	Pathogenic	1	1	5	1
MUT:F9:Tyr161Cys	PROT:P00740	F9	Y	161	C	Y161C	Likely pathogenic	1	1	5	43
MUT:F9:Tyr305Cys	PROT:P00740	F9	Y	305	C	Y305C	Likely pathogenic	1	1	5	66
MUT:F9:Tyr91Asn	PROT:P00740	F9	Y	91	N	Y91N	Likely pathogenic	1	1	5	23
MUT:F9:Val153Met	PROT:P00740	F9	V	153	M	V153M	Likely pathogenic	1	1	5	39
MUT:F9:Val174Met	PROT:P00740	F9	V	174	M	V174M	Likely pathogenic	1	1	5	30
MUT:F9:Val181Phe	PROT:P00740	F9	V	181	F	V181F	Pathogenic	1	1	5	23
MUT:F9:Val195Gly	PROT:P00740	F9	V	195	G	V195G	Likely benign	0	1	5	9
MUT:F9:Val227Ala	PROT:P00740	F9	V	227	A	V227A	Pathogenic	1	1	5	22
MUT:F9:Val227Ile	PROT:P00740	F9	V	227	I	V227I	Benign	0	1	5	22
MUT:F9:Val228Gly	PROT:P00740	F9	V	228	G	V228G	Likely pathogenic	1	1	5	23
MUT:F9:Val228Leu	PROT:P00740	F9	V	228	L	V228L	Pathogenic	1	1	5	23
MUT:F9:Val228Phe	PROT:P00740	F9	V	228	F	V228F	Pathogenic	1	1	5	23
MUT:F9:Val242Ile	PROT:P00740	F9	V	242	I	V242I	Likely pathogenic	1	1	5	37
MUT:F9:Val30Ile	PROT:P00740	F9	V	30	I	V30I	Likely pathogenic	1	1	5	84
MUT:F9:Val30Leu	PROT:P00740	F9	V	30	L	V30L	Likely pathogenic	1	2	5	84
MUT:F9:Val353Ala	PROT:P00740	F9	V	353	A	V353A	Pathogenic	1	2	5	18
MUT:F9:Val374Phe	PROT:P00740	F9	V	374	F	V374F	Pathogenic	1	1	5	3
MUT:F9:Val377Ala	PROT:P00740	F9	V	377	A	V377A	Likely pathogenic	1	1	5	4
MUT:F9:Val377Leu	PROT:P00740	F9	V	377	L	V377L	Likely pathogenic	1	1	5	4
MUT:F9:Val419Glu	PROT:P00740	F9	V	419	E	V419E	Pathogenic	1	1	5	38
MUT:FAAH:Pro129Thr	PROT:O00519	FAAH	P	129	T	P129T	Benign/Likely benign	0	3	4	30
MUT:FAM107B:Leu271Val	PROT:Q9H098	FAM107B	L	271	V	L271V	Benign	0	8	6	171
MUT:FAM131B:Met105Ile	PROT:Q86XD5	FAM131B	M	105	I	M105I	Likely benign	0	1	7	3
MUT:FAM151A:Asn89Lys	PROT:Q8WW52	FAM151A	N	89	K	N89K	Likely benign	0	2	1	179
MUT:FAM161A:Arg523Gly	PROT:Q3B820	FAM161A	R	523	G	R523G	Likely pathogenic	1	1	14	31
MUT:FAM161A:Arg584Lys	PROT:Q3B820	FAM161A	R	584	K	R584K	Likely pathogenic	1	1	14	2
MUT:FAM161A:Cys501Ser	PROT:Q3B820	FAM161A	C	501	S	C501S	Likely benign	0	1	14	9
MUT:FAM161A:Glu653Asp	PROT:Q3B820	FAM161A	E	653	D	E653D	Benign	0	2	14	3
MUT:FAM161A:Ile107Met	PROT:Q3B820	FAM161A	I	107	M	I107M	Benign	0	3	14	28
MUT:FAM161A:Ile236Val	PROT:Q3B820	FAM161A	I	236	V	I236V	Benign	0	3	14	43
MUT:FAM161A:Leu346Phe	PROT:Q3B820	FAM161A	L	346	F	L346F	Likely benign	0	1	14	28
MUT:FAM161A:Met552Arg	PROT:Q3B820	FAM161A	M	552	R	M552R	Benign	0	1	14	30
MUT:FAM161A:Val527Ile	PROT:Q3B820	FAM161A	V	527	I	V527I	Likely benign	0	1	14	35
MUT:FAM171A1:Val805Phe	PROT:Q5VUB5	FAM171A1	V	805	F	V805F	Likely benign	0	1	27	19
MUT:FAM171B:Arg306Gln	PROT:Q6P995	FAM171B	R	306	Q	R306Q	Likely benign	0	2	12	87
MUT:FAM222A:His95Leu	PROT:Q5U5X8	FAM222A	H	95	L	H95L	Likely pathogenic	1	1	1	29
MUT:FAM50A:Ala51Val	PROT:Q14320	FAM50A	A	51	V	A51V	Likely benign	0	1	14	11
MUT:FAM50A:Asp255Asn	PROT:Q14320	FAM50A	D	255	N	D255N	Likely pathogenic	1	1	14	16
MUT:FAM50A:Asp255Gly	PROT:Q14320	FAM50A	D	255	G	D255G	Likely pathogenic	1	2	14	16
MUT:FAM50A:Glu128Lys	PROT:Q14320	FAM50A	E	128	K	E128K	Likely benign	0	1	14	37
MUT:FAM50A:Glu254Gly	PROT:Q14320	FAM50A	E	254	G	E254G	Likely pathogenic	1	1	14	17
MUT:FAM50A:Glu254Lys	PROT:Q14320	FAM50A	E	254	K	E254K	Likely pathogenic	1	1	14	17
MUT:FAM50A:Met144Thr	PROT:Q14320	FAM50A	M	144	T	M144T	Likely benign	0	1	14	21
MUT:FAM83F:Asp299Asn	PROT:Q8NEG4	FAM83F	D	299	N	D299N	Likely benign	0	1	6	15
MUT:FAM83H:Ala561Thr	PROT:Q6ZRV2	FAM83H	A	561	T	A561T	Likely benign	0	1	58	86
MUT:FAM83H:Ala620Val	PROT:Q6ZRV2	FAM83H	A	620	V	A620V	Likely benign	0	1	58	27
MUT:FAM83H:Ala699Thr	PROT:Q6ZRV2	FAM83H	A	699	T	A699T	Likely benign	0	1	58	32
MUT:FAM83H:Ala948Thr	PROT:Q6ZRV2	FAM83H	A	948	T	A948T	Likely benign	0	1	58	3
MUT:FAM83H:Ala951Val	PROT:Q6ZRV2	FAM83H	A	951	V	A951V	Likely benign	0	1	58	5
MUT:FAM83H:Arg1073His	PROT:Q6ZRV2	FAM83H	R	1073	H	R1073H	Likely benign	0	1	58	5
MUT:FAM83H:Arg348Cys	PROT:Q6ZRV2	FAM83H	R	348	C	R348C	Benign	0	1	58	29
MUT:FAM83H:Arg746Cys	PROT:Q6ZRV2	FAM83H	R	746	C	R746C	Benign	0	1	58	13
MUT:FAM83H:Gln800Arg	PROT:Q6ZRV2	FAM83H	Q	800	R	Q800R	Likely benign	0	1	58	13
MUT:FAM83H:Gly504Arg	PROT:Q6ZRV2	FAM83H	G	504	R	G504R	Benign	0	1	58	29
MUT:FAM83H:Gly574Val	PROT:Q6ZRV2	FAM83H	G	574	V	G574V	Likely benign	0	1	58	73
MUT:FAM83H:Gly781Ser	PROT:Q6ZRV2	FAM83H	G	781	S	G781S	Likely benign	0	1	58	32
MUT:FAM83H:Gly880Arg	PROT:Q6ZRV2	FAM83H	G	880	R	G880R	Likely benign	0	1	58	3
MUT:FAM83H:Gly902Glu	PROT:Q6ZRV2	FAM83H	G	902	E	G902E	Benign	0	1	58	1
MUT:FAM83H:Leu1071Val	PROT:Q6ZRV2	FAM83H	L	1071	V	L1071V	Likely benign	0	1	58	3
MUT:FAM83H:Pro645Ser	PROT:Q6ZRV2	FAM83H	P	645	S	P645S	Likely benign	0	1	58	2
MUT:FAM83H:Thr75Ala	PROT:Q6ZRV2	FAM83H	T	75	A	T75A	Likely benign	0	1	58	35
MUT:FAM8A1:Met298Leu	PROT:Q9UBU6	FAM8A1	M	298	L	M298L	Likely benign	0	1	5	65
MUT:FAN1:Ala261Val	PROT:Q9Y2M0	FAN1	A	261	V	A261V	Likely benign	0	1	16	7
MUT:FAN1:Ala805Thr	PROT:Q9Y2M0	FAN1	A	805	T	A805T	Benign/Likely benign	0	1	16	113
MUT:FAN1:Arg145His	PROT:Q9Y2M0	FAN1	R	145	H	R145H	Benign/Likely benign	0	1	16	8
MUT:FAN1:Arg246Gln	PROT:Q9Y2M0	FAN1	R	246	Q	R246Q	Likely benign	0	1	16	8
MUT:FAN1:Arg296Cys	PROT:Q9Y2M0	FAN1	R	296	C	R296C	Likely benign	0	1	16	21
MUT:FAN1:Arg790His	PROT:Q9Y2M0	FAN1	R	790	H	R790H	Likely benign	0	1	16	98
MUT:FAN1:Arg921Cys	PROT:Q9Y2M0	FAN1	R	921	C	R921C	Benign	0	1	16	56
MUT:FAN1:Asn980Ser	PROT:Q9Y2M0	FAN1	N	980	S	N980S	Likely benign	0	1	16	3
MUT:FAN1:Gly233Glu	PROT:Q9Y2M0	FAN1	G	233	E	G233E	Benign	0	1	16	21
MUT:FAN1:Gly937Arg	PROT:Q9Y2M0	FAN1	G	937	R	G937R	Pathogenic	1	1	16	40
MUT:FAN1:Met2Thr	PROT:Q9Y2M0	FAN1	M	2	T	M2T	Likely benign	0	1	16	1
MUT:FAN1:Tyr842Cys	PROT:Q9Y2M0	FAN1	Y	842	C	Y842C	Likely benign	0	1	16	135
MUT:FAN1:Val164Ile	PROT:Q9Y2M0	FAN1	V	164	I	V164I	Likely benign	0	1	16	16
MUT:FAN1:Val535Ile	PROT:Q9Y2M0	FAN1	V	535	I	V535I	Likely benign	0	1	16	19
MUT:FANCA:Ala1157Thr	PROT:O15360	FANCA	A	1157	T	A1157T	Likely benign	0	1	29	8
MUT:FANCA:Ala1346Thr	PROT:O15360	FANCA	A	1346	T	A1346T	Benign/Likely benign	0	2	29	41
MUT:FANCA:Ala1357Pro	PROT:O15360	FANCA	A	1357	P	A1357P	Pathogenic	1	1	29	30
MUT:FANCA:Ala1399Pro	PROT:O15360	FANCA	A	1399	P	A1399P	Pathogenic	1	1	29	1
MUT:FANCA:Ala181Val	PROT:O15360	FANCA	A	181	V	A181V	Benign/Likely benign	0	2	29	16
MUT:FANCA:Ala228Gly	PROT:O15360	FANCA	A	228	G	A228G	Pathogenic	1	1	29	21
MUT:FANCA:Ala412Val	PROT:O15360	FANCA	A	412	V	A412V	Benign/Likely benign	0	8	29	61
MUT:FANCA:Ala746Ser	PROT:O15360	FANCA	A	746	S	A746S	Benign/Likely benign	0	3	29	45
MUT:FANCA:Ala788Pro	PROT:O15360	FANCA	A	788	P	A788P	Pathogenic	1	1	29	61
MUT:FANCA:Ala87Thr	PROT:O15360	FANCA	A	87	T	A87T	Likely benign	0	1	29	11
MUT:FANCA:Arg1011Cys	PROT:O15360	FANCA	R	1011	C	R1011C	Benign/Likely benign	0	4	29	68
MUT:FANCA:Arg1055Gln	PROT:O15360	FANCA	R	1055	Q	R1055Q	Pathogenic/Likely pathogenic	1	3	29	24
MUT:FANCA:Arg1055Gly	PROT:O15360	FANCA	R	1055	G	R1055G	Likely pathogenic	1	1	29	24
MUT:FANCA:Arg1055Trp	PROT:O15360	FANCA	R	1055	W	R1055W	Pathogenic	1	3	29	24
MUT:FANCA:Arg1080Gln	PROT:O15360	FANCA	R	1080	Q	R1080Q	Pathogenic/Likely pathogenic	1	2	29	1
MUT:FANCA:Arg1080Leu	PROT:O15360	FANCA	R	1080	L	R1080L	Pathogenic	1	2	29	1
MUT:FANCA:Arg1117Gly	PROT:O15360	FANCA	R	1117	G	R1117G	Pathogenic/Likely pathogenic	1	2	29	32
MUT:FANCA:Arg1117Thr	PROT:O15360	FANCA	R	1117	T	R1117T	Pathogenic	1	2	29	32
MUT:FANCA:Arg1204Pro	PROT:O15360	FANCA	R	1204	P	R1204P	Pathogenic	1	1	29	5
MUT:FANCA:Arg1400Cys	PROT:O15360	FANCA	R	1400	C	R1400C	Pathogenic/Likely pathogenic	1	2	29	2
MUT:FANCA:Arg1400His	PROT:O15360	FANCA	R	1400	H	R1400H	Pathogenic/Likely pathogenic	1	2	29	2
MUT:FANCA:Arg1400Pro	PROT:O15360	FANCA	R	1400	P	R1400P	Likely pathogenic	1	2	29	2
MUT:FANCA:Arg1409Gln	PROT:O15360	FANCA	R	1409	Q	R1409Q	Benign/Likely benign	0	1	29	4
MUT:FANCA:Arg20Lys	PROT:O15360	FANCA	R	20	K	R20K	Likely benign	0	1	29	14
MUT:FANCA:Arg20Ser	PROT:O15360	FANCA	R	20	S	R20S	Likely benign	0	1	29	14
MUT:FANCA:Arg435Cys	PROT:O15360	FANCA	R	435	C	R435C	Pathogenic	1	2	29	53
MUT:FANCA:Arg435His	PROT:O15360	FANCA	R	435	H	R435H	Pathogenic/Likely pathogenic	1	2	29	53
MUT:FANCA:Arg435Leu	PROT:O15360	FANCA	R	435	L	R435L	Pathogenic/Likely pathogenic	1	2	29	53
MUT:FANCA:Arg435Pro	PROT:O15360	FANCA	R	435	P	R435P	Likely pathogenic	1	1	29	53
MUT:FANCA:Arg685Thr	PROT:O15360	FANCA	R	685	T	R685T	Pathogenic	1	1	29	16
MUT:FANCA:Arg756His	PROT:O15360	FANCA	R	756	H	R756H	Likely benign	0	1	29	55
MUT:FANCA:Arg764Trp	PROT:O15360	FANCA	R	764	W	R764W	Pathogenic/Likely pathogenic	1	2	29	63
MUT:FANCA:Arg880Gln	PROT:O15360	FANCA	R	880	Q	R880Q	Pathogenic/Likely pathogenic	1	3	29	22
MUT:FANCA:Arg951Gln	PROT:O15360	FANCA	R	951	Q	R951Q	Pathogenic/Likely pathogenic	1	2	29	93
MUT:FANCA:Arg951Leu	PROT:O15360	FANCA	R	951	L	R951L	Likely pathogenic	1	2	29	93
MUT:FANCA:Arg951Trp	PROT:O15360	FANCA	R	951	W	R951W	Pathogenic/Likely pathogenic	1	2	29	93
MUT:FANCA:Asn1276His	PROT:O15360	FANCA	N	1276	H	N1276H	Likely benign	0	1	29	25
MUT:FANCA:Asn8Lys	PROT:O15360	FANCA	N	8	K	N8K	Benign	0	2	29	26
MUT:FANCA:Asp1129Val	PROT:O15360	FANCA	D	1129	V	D1129V	Pathogenic	1	1	29	20
MUT:FANCA:Asp1325His	PROT:O15360	FANCA	D	1325	H	D1325H	Pathogenic	1	1	29	24
MUT:FANCA:Asp1429Tyr	PROT:O15360	FANCA	D	1429	Y	D1429Y	Likely pathogenic	1	1	29	16
MUT:FANCA:Asp252Asn	PROT:O15360	FANCA	D	252	N	D252N	Likely benign	0	2	29	3
MUT:FANCA:Asp252Gly	PROT:O15360	FANCA	D	252	G	D252G	Benign/Likely benign	0	10	29	3
MUT:FANCA:Asp598Asn	PROT:O15360	FANCA	D	598	N	D598N	Pathogenic	1	1	29	10
MUT:FANCA:Asp953Glu	PROT:O15360	FANCA	D	953	E	D953E	Likely benign	0	3	29	95
MUT:FANCA:Cys824Arg	PROT:O15360	FANCA	C	824	R	C824R	Likely pathogenic	1	1	29	25
MUT:FANCA:Gln1099His	PROT:O15360	FANCA	Q	1099	H	Q1099H	Likely benign	0	2	29	20
MUT:FANCA:Gln1437Leu	PROT:O15360	FANCA	Q	1437	L	Q1437L	Likely benign	0	1	29	12
MUT:FANCA:Gln153Glu	PROT:O15360	FANCA	Q	153	E	Q153E	Likely benign	0	2	29	12
MUT:FANCA:Gln436Arg	PROT:O15360	FANCA	Q	436	R	Q436R	Pathogenic/Likely pathogenic	1	2	29	52
MUT:FANCA:Gln436His	PROT:O15360	FANCA	Q	436	H	Q436H	Likely pathogenic	1	1	29	52
MUT:FANCA:Gln742Lys	PROT:O15360	FANCA	Q	742	K	Q742K	Pathogenic	1	1	29	41
MUT:FANCA:Gln869Glu	PROT:O15360	FANCA	Q	869	E	Q869E	Likely pathogenic	1	1	29	11
MUT:FANCA:Gln869Pro	PROT:O15360	FANCA	Q	869	P	Q869P	Pathogenic/Likely pathogenic	1	2	29	11
MUT:FANCA:Glu1214Asp	PROT:O15360	FANCA	E	1214	D	E1214D	Likely benign	0	1	29	15
MUT:FANCA:Glu420Lys	PROT:O15360	FANCA	E	420	K	E420K	Likely pathogenic	1	1	29	68
MUT:FANCA:Glu484Gln	PROT:O15360	FANCA	E	484	Q	E484Q	Likely pathogenic	1	1	29	4
MUT:FANCA:Glu630Val	PROT:O15360	FANCA	E	630	V	E630V	Benign/Likely benign	0	2	29	1
MUT:FANCA:Glu878Gln	PROT:O15360	FANCA	E	878	Q	E878Q	Likely pathogenic	1	1	29	20
MUT:FANCA:Glu923Lys	PROT:O15360	FANCA	E	923	K	E923K	Likely benign	0	1	29	65
MUT:FANCA:Glu936Gly	PROT:O15360	FANCA	E	936	G	E936G	Pathogenic/Likely pathogenic	1	2	29	78
MUT:FANCA:Glu936Lys	PROT:O15360	FANCA	E	936	K	E936K	Pathogenic	1	1	29	78
MUT:FANCA:Gly284Ala	PROT:O15360	FANCA	G	284	A	G284A	Likely benign	0	1	29	9
MUT:FANCA:Gly501Ser	PROT:O15360	FANCA	G	501	S	G501S	Benign	0	4	29	13
MUT:FANCA:Gly66Arg	PROT:O15360	FANCA	G	66	R	G66R	Benign	0	1	29	4
MUT:FANCA:Gly809Asp	PROT:O15360	FANCA	G	809	D	G809D	Benign/Likely benign	0	2	29	40
MUT:FANCA:Gly972Val	PROT:O15360	FANCA	G	972	V	G972V	Likely pathogenic	1	1	29	107
MUT:FANCA:His1110Pro	PROT:O15360	FANCA	H	1110	P	H1110P	Likely pathogenic	1	2	29	31
MUT:FANCA:His1286Pro	PROT:O15360	FANCA	H	1286	P	H1286P	Likely benign	0	1	29	15
MUT:FANCA:His184Arg	PROT:O15360	FANCA	H	184	R	H184R	Likely benign	0	1	29	19
MUT:FANCA:His492Arg	PROT:O15360	FANCA	H	492	R	H492R	Likely pathogenic	1	2	29	4
MUT:FANCA:His913Pro	PROT:O15360	FANCA	H	913	P	H913P	Pathogenic/Likely pathogenic	1	2	29	55
MUT:FANCA:His934Gln	PROT:O15360	FANCA	H	934	Q	H934Q	Likely benign	0	1	29	76
MUT:FANCA:Ile1018Phe	PROT:O15360	FANCA	I	1018	F	I1018F	Likely benign	0	1	29	61
MUT:FANCA:Ile311Thr	PROT:O15360	FANCA	I	311	T	I311T	Benign/Likely benign	0	3	29	18
MUT:FANCA:Ile511Val	PROT:O15360	FANCA	I	511	V	I511V	Likely benign	0	1	29	4
MUT:FANCA:Ile555Val	PROT:O15360	FANCA	I	555	V	I555V	Likely benign	0	1	29	33
MUT:FANCA:Ile680Val	PROT:O15360	FANCA	I	680	V	I680V	Likely benign	0	1	29	21
MUT:FANCA:Ile699Val	PROT:O15360	FANCA	I	699	V	I699V	Likely benign	0	1	29	2
MUT:FANCA:Leu1138Val	PROT:O15360	FANCA	L	1138	V	L1138V	Benign/Likely benign	0	2	29	11
MUT:FANCA:Leu1305Phe	PROT:O15360	FANCA	L	1305	F	L1305F	Pathogenic/Likely pathogenic	1	2	29	4
MUT:FANCA:Leu210Arg	PROT:O15360	FANCA	L	210	R	L210R	Pathogenic	1	1	29	39
MUT:FANCA:Leu324Arg	PROT:O15360	FANCA	L	324	R	L324R	Pathogenic/Likely pathogenic	1	2	29	11
MUT:FANCA:Leu324Pro	PROT:O15360	FANCA	L	324	P	L324P	Likely pathogenic	1	1	29	11
MUT:FANCA:Leu358Arg	PROT:O15360	FANCA	L	358	R	L358R	Pathogenic	1	1	29	7
MUT:FANCA:Leu362Pro	PROT:O15360	FANCA	L	362	P	L362P	Pathogenic	1	1	29	11
MUT:FANCA:Leu407Arg	PROT:O15360	FANCA	L	407	R	L407R	Pathogenic	1	1	29	56
MUT:FANCA:Leu637Pro	PROT:O15360	FANCA	L	637	P	L637P	Likely benign	0	1	29	6
MUT:FANCA:Leu660Pro	PROT:O15360	FANCA	L	660	P	L660P	Pathogenic	1	1	29	29
MUT:FANCA:Leu684Pro	PROT:O15360	FANCA	L	684	P	L684P	Pathogenic/Likely pathogenic	1	1	29	17
MUT:FANCA:Leu68Pro	PROT:O15360	FANCA	L	68	P	L68P	Likely benign	0	1	29	2
MUT:FANCA:Leu768Pro	PROT:O15360	FANCA	L	768	P	L768P	Pathogenic/Likely pathogenic	1	2	29	67
MUT:FANCA:Leu817Pro	PROT:O15360	FANCA	L	817	P	L817P	Pathogenic	1	1	29	32
MUT:FANCA:Leu845Pro	PROT:O15360	FANCA	L	845	P	L845P	Pathogenic/Likely pathogenic	1	2	29	4
MUT:FANCA:Leu883His	PROT:O15360	FANCA	L	883	H	L883H	Likely benign	0	1	29	25
MUT:FANCA:Leu908Pro	PROT:O15360	FANCA	L	908	P	L908P	Pathogenic	1	1	29	50
MUT:FANCA:Lys31Asn	PROT:O15360	FANCA	K	31	N	K31N	Likely benign	0	1	29	3
MUT:FANCA:Lys595Arg	PROT:O15360	FANCA	K	595	R	K595R	Likely benign	0	1	29	13
MUT:FANCA:Lys921Ile	PROT:O15360	FANCA	K	921	I	K921I	Likely pathogenic	1	1	29	63
MUT:FANCA:Met1151Thr	PROT:O15360	FANCA	M	1151	T	M1151T	Likely benign	0	1	29	2
MUT:FANCA:Met1Arg	PROT:O15360	FANCA	M	1	R	M1R	Pathogenic	1	2	29	33
MUT:FANCA:Met1Ile	PROT:O15360	FANCA	M	1	I	M1I	Likely pathogenic	1	1	29	33
MUT:FANCA:Met1Leu	PROT:O15360	FANCA	M	1	L	M1L	Pathogenic/Likely pathogenic	1	2	29	33
MUT:FANCA:Met1Lys	PROT:O15360	FANCA	M	1	K	M1K	Pathogenic/Likely pathogenic	1	2	29	33
MUT:FANCA:Met1Thr	PROT:O15360	FANCA	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	29	33
MUT:FANCA:Met1Val	PROT:O15360	FANCA	M	1	V	M1V	Pathogenic	1	2	29	33
MUT:FANCA:Met203Thr	PROT:O15360	FANCA	M	203	T	M203T	Likely benign	0	1	29	38
MUT:FANCA:Met569Leu	PROT:O15360	FANCA	M	569	L	M569L	Likely benign	0	1	29	39
MUT:FANCA:Met717Ile	PROT:O15360	FANCA	M	717	I	M717I	Benign/Likely benign	0	17	29	16
MUT:FANCA:Met717Thr	PROT:O15360	FANCA	M	717	T	M717T	Likely benign	0	1	29	16
MUT:FANCA:Phe319Leu	PROT:O15360	FANCA	F	319	L	F319L	Likely benign	0	1	29	16
MUT:FANCA:Phe456Ser	PROT:O15360	FANCA	F	456	S	F456S	Likely pathogenic	1	1	29	32
MUT:FANCA:Phe831Leu	PROT:O15360	FANCA	F	831	L	F831L	Likely benign	0	1	29	18
MUT:FANCA:Phe963Ser	PROT:O15360	FANCA	F	963	S	F963S	Likely pathogenic	1	1	29	105
MUT:FANCA:Pro1164Leu	PROT:O15360	FANCA	P	1164	L	P1164L	Likely pathogenic	1	2	29	15
MUT:FANCA:Pro1164Ser	PROT:O15360	FANCA	P	1164	S	P1164S	Pathogenic/Likely pathogenic	1	2	29	15
MUT:FANCA:Pro1175Ser	PROT:O15360	FANCA	P	1175	S	P1175S	Likely benign	0	1	29	24
MUT:FANCA:Pro1194Leu	PROT:O15360	FANCA	P	1194	L	P1194L	Likely pathogenic	1	2	29	5
MUT:FANCA:Pro1282Leu	PROT:O15360	FANCA	P	1282	L	P1282L	Likely benign	0	1	29	19
MUT:FANCA:Pro1324Leu	PROT:O15360	FANCA	P	1324	L	P1324L	Pathogenic/Likely pathogenic	1	2	29	23
MUT:FANCA:Pro201Ser	PROT:O15360	FANCA	P	201	S	P201S	Benign/Likely benign	0	2	29	36
MUT:FANCA:Pro315Ser	PROT:O15360	FANCA	P	315	S	P315S	Likely benign	0	1	29	20
MUT:FANCA:Pro643Ala	PROT:O15360	FANCA	P	643	A	P643A	Benign	0	2	29	12
MUT:FANCA:Pro643Arg	PROT:O15360	FANCA	P	643	R	P643R	Benign	0	2	29	12
MUT:FANCA:Pro739Leu	PROT:O15360	FANCA	P	739	L	P739L	Benign/Likely benign	0	2	29	38
MUT:FANCA:Ser1068Arg	PROT:O15360	FANCA	S	1068	R	S1068R	Likely benign	0	1	29	11
MUT:FANCA:Ser1088Phe	PROT:O15360	FANCA	S	1088	F	S1088F	Benign	0	3	29	9
MUT:FANCA:Ser1208Arg	PROT:O15360	FANCA	S	1208	R	S1208R	Likely benign	0	1	29	9
MUT:FANCA:Ser1275Pro	PROT:O15360	FANCA	S	1275	P	S1275P	Likely benign	0	1	29	26
MUT:FANCA:Ser1337Gly	PROT:O15360	FANCA	S	1337	G	S1337G	Pathogenic	1	1	29	36
MUT:FANCA:Ser1449Tyr	PROT:O15360	FANCA	S	1449	Y	S1449Y	Likely benign	0	1	29	0
MUT:FANCA:Ser208Leu	PROT:O15360	FANCA	S	208	L	S208L	Benign/Likely benign	0	2	29	41
MUT:FANCA:Ser357Ala	PROT:O15360	FANCA	S	357	A	S357A	Likely benign	0	1	29	6
MUT:FANCA:Ser674Leu	PROT:O15360	FANCA	S	674	L	S674L	Benign/Likely benign	0	3	29	27
MUT:FANCA:Ser858Arg	PROT:O15360	FANCA	S	858	R	S858R	Benign/Likely benign	0	12	29	0
MUT:FANCA:Ser909Cys	PROT:O15360	FANCA	S	909	C	S909C	Likely benign	0	1	29	51
MUT:FANCA:Thr1102Ala	PROT:O15360	FANCA	T	1102	A	T1102A	Likely benign	0	1	29	23
MUT:FANCA:Thr1131Ala	PROT:O15360	FANCA	T	1131	A	T1131A	Pathogenic/Likely pathogenic	1	2	29	18
MUT:FANCA:Thr1131Asn	PROT:O15360	FANCA	T	1131	N	T1131N	Likely pathogenic	1	1	29	18
MUT:FANCA:Thr1328Ala	PROT:O15360	FANCA	T	1328	A	T1328A	Benign	0	2	29	27
MUT:FANCA:Thr266Ala	PROT:O15360	FANCA	T	266	A	T266A	Benign	0	3	29	5
MUT:FANCA:Thr724Pro	PROT:O15360	FANCA	T	724	P	T724P	Pathogenic	1	1	29	23
MUT:FANCA:Thr838Arg	PROT:O15360	FANCA	T	838	R	T838R	Pathogenic	1	1	29	11
MUT:FANCA:Thr855Ile	PROT:O15360	FANCA	T	855	I	T855I	Likely benign	0	1	29	3
MUT:FANCA:Thr912Arg	PROT:O15360	FANCA	T	912	R	T912R	Likely benign	0	1	29	54
MUT:FANCA:Thr915Ala	PROT:O15360	FANCA	T	915	A	T915A	Likely benign	0	1	29	57
MUT:FANCA:Trp932Arg	PROT:O15360	FANCA	W	932	R	W932R	Pathogenic	1	1	29	74
MUT:FANCA:Trp957Gly	PROT:O15360	FANCA	W	957	G	W957G	Likely pathogenic	1	1	29	99
MUT:FANCA:Tyr448Cys	PROT:O15360	FANCA	Y	448	C	Y448C	Pathogenic	1	1	29	40
MUT:FANCA:Tyr843Asp	PROT:O15360	FANCA	Y	843	D	Y843D	Pathogenic/Likely pathogenic	1	2	29	6
MUT:FANCA:Val1025Ala	PROT:O15360	FANCA	V	1025	A	V1025A	Likely benign	0	1	29	54
MUT:FANCA:Val1089Ile	PROT:O15360	FANCA	V	1089	I	V1089I	Benign/Likely benign	0	3	29	10
MUT:FANCA:Val1112Gly	PROT:O15360	FANCA	V	1112	G	V1112G	Likely pathogenic	1	2	29	33
MUT:FANCA:Val1180Met	PROT:O15360	FANCA	V	1180	M	V1180M	Benign/Likely benign	0	2	29	19
MUT:FANCA:Val1287Ile	PROT:O15360	FANCA	V	1287	I	V1287I	Benign/Likely benign	0	3	29	14
MUT:FANCA:Val1322Leu	PROT:O15360	FANCA	V	1322	L	V1322L	Likely benign	0	1	29	21
MUT:FANCA:Val1418Met	PROT:O15360	FANCA	V	1418	M	V1418M	Likely benign	0	2	29	5
MUT:FANCA:Val182Met	PROT:O15360	FANCA	V	182	M	V182M	Likely benign	0	1	29	17
MUT:FANCA:Val389Leu	PROT:O15360	FANCA	V	389	L	V389L	Likely pathogenic	1	1	29	38
MUT:FANCA:Val639Met	PROT:O15360	FANCA	V	639	M	V639M	Likely benign	0	1	29	8
MUT:FANCA:Val697Ala	PROT:O15360	FANCA	V	697	A	V697A	Likely benign	0	1	29	4
MUT:FANCA:Val6Asp	PROT:O15360	FANCA	V	6	D	V6D	Benign	0	2	29	28
MUT:FANCA:Val761Glu	PROT:O15360	FANCA	V	761	E	V761E	Pathogenic	1	1	29	60
MUT:FANCD2:Ala1149Val	PROT:Q9BXW9	FANCD2	A	1149	V	A1149V	Benign/Likely benign	0	2	15	108
MUT:FANCD2:Arg1236His	PROT:Q9BXW9	FANCD2	R	1236	H	R1236H	Pathogenic/Likely pathogenic	1	2	15	21
MUT:FANCD2:Arg302Trp	PROT:Q9BXW9	FANCD2	R	302	W	R302W	Pathogenic/Likely pathogenic	1	2	15	28
MUT:FANCD2:Arg328Gln	PROT:Q9BXW9	FANCD2	R	328	Q	R328Q	Benign/Likely benign	0	2	15	2
MUT:FANCD2:Arg815Gln	PROT:Q9BXW9	FANCD2	R	815	Q	R815Q	Pathogenic	1	3	15	95
MUT:FANCD2:Asn405Ser	PROT:Q9BXW9	FANCD2	N	405	S	N405S	Benign	0	4	15	75
MUT:FANCD2:Asn545Ser	PROT:Q9BXW9	FANCD2	N	545	S	N545S	Benign/Likely benign	0	3	15	47
MUT:FANCD2:Gln623Pro	PROT:Q9BXW9	FANCD2	Q	623	P	Q623P	Benign/Likely benign	0	6	15	27
MUT:FANCD2:Gln65His	PROT:Q9BXW9	FANCD2	Q	65	H	Q65H	Benign/Likely benign	0	4	15	61
MUT:FANCD2:Gly901Val	PROT:Q9BXW9	FANCD2	G	901	V	G901V	Benign/Likely benign	0	3	15	181
MUT:FANCD2:Ile172Met	PROT:Q9BXW9	FANCD2	I	172	M	I172M	Benign	0	4	15	5
MUT:FANCD2:Leu153Ser	PROT:Q9BXW9	FANCD2	L	153	S	L153S	Pathogenic	1	1	15	14
MUT:FANCD2:Leu231Arg	PROT:Q9BXW9	FANCD2	L	231	R	L231R	Pathogenic	1	1	15	9
MUT:FANCD2:Leu446Val	PROT:Q9BXW9	FANCD2	L	446	V	L446V	Benign/Likely benign	0	2	15	116
MUT:FANCD2:Leu456Arg	PROT:Q9BXW9	FANCD2	L	456	R	L456R	Benign/Likely benign	0	3	15	126
MUT:FANCD2:Leu457Pro	PROT:Q9BXW9	FANCD2	L	457	P	L457P	Likely pathogenic	1	1	15	127
MUT:FANCD2:Phe386Val	PROT:Q9BXW9	FANCD2	F	386	V	F386V	Benign/Likely benign	0	2	15	56
MUT:FANCD2:Pro714Leu	PROT:Q9BXW9	FANCD2	P	714	L	P714L	Benign/Likely benign	0	4	15	3
MUT:FANCD2:Ser126Gly	PROT:Q9BXW9	FANCD2	S	126	G	S126G	Pathogenic	1	2	15	0
MUT:FANCD2:Thr193Ala	PROT:Q9BXW9	FANCD2	T	193	A	T193A	Benign/Likely benign	0	3	15	15
MUT:FANCD2:Thr908Ile	PROT:Q9BXW9	FANCD2	T	908	I	T908I	Benign/Likely benign	0	1	15	188
MUT:FANCD2:Val1093Asp	PROT:Q9BXW9	FANCD2	V	1093	D	V1093D	Likely benign	0	1	15	164
MUT:FANCD2:Val988Ala	PROT:Q9BXW9	FANCD2	V	988	A	V988A	Likely benign	0	1	15	268
MUT:FANCE:Ala502Thr	PROT:Q9HB96	FANCE	A	502	T	A502T	Benign	0	1	16	128
MUT:FANCE:Arg343Gln	PROT:Q9HB96	FANCE	R	343	Q	R343Q	Benign	0	6	16	3
MUT:FANCE:Arg460Gly	PROT:Q9HB96	FANCE	R	460	G	R460G	Benign	0	1	16	86
MUT:FANCE:Arg89Leu	PROT:Q9HB96	FANCE	R	89	L	R89L	Benign/Likely benign	0	1	16	5
MUT:FANCE:Gly54Asp	PROT:Q9HB96	FANCE	G	54	D	G54D	Benign	0	1	16	30
MUT:FANCE:Ile120Val	PROT:Q9HB96	FANCE	I	120	V	I120V	Benign/Likely benign	0	2	16	34
MUT:FANCE:Ser204Leu	PROT:Q9HB96	FANCE	S	204	L	S204L	Benign/Likely benign	0	1	16	0
MUT:FANCF:Ala186Val	PROT:Q9NPI8	FANCF	A	186	V	A186V	Benign/Likely benign	0	5	6	4
MUT:FANCF:Ala81Val	PROT:Q9NPI8	FANCF	A	81	V	A81V	Likely benign	0	1	6	83
MUT:FANCF:Gln68Arg	PROT:Q9NPI8	FANCF	Q	68	R	Q68R	Likely benign	0	1	6	96
MUT:FANCF:His7Gln	PROT:Q9NPI8	FANCF	H	7	Q	H7Q	Likely benign	0	1	6	157
MUT:FANCF:Met1Arg	PROT:Q9NPI8	FANCF	M	1	R	M1R	Pathogenic/Likely pathogenic	1	2	6	163
MUT:FANCF:Met1Ile	PROT:Q9NPI8	FANCF	M	1	I	M1I	Pathogenic	1	1	6	163
MUT:FANCF:Met1Leu	PROT:Q9NPI8	FANCF	M	1	L	M1L	Likely pathogenic	1	1	6	163
MUT:FANCF:Pro320Leu	PROT:Q9NPI8	FANCF	P	320	L	P320L	Benign/Likely benign	0	2	6	2
MUT:FANCF:Ser132Gly	PROT:Q9NPI8	FANCF	S	132	G	S132G	Benign	0	1	6	32
MUT:FANCF:Val295Ile	PROT:Q9NPI8	FANCF	V	295	I	V295I	Benign/Likely benign	0	1	6	27
MUT:FANCI:Ala797Val	PROT:Q9NVI1	FANCI	A	797	V	A797V	Likely benign	0	2	9	57
MUT:FANCI:Ala816Gly	PROT:Q9NVI1	FANCI	A	816	G	A816G	Benign	0	1	9	38
MUT:FANCI:Ala86Val	PROT:Q9NVI1	FANCI	A	86	V	A86V	Benign	0	2	9	34
MUT:FANCI:Arg944Ser	PROT:Q9NVI1	FANCI	R	944	S	R944S	Benign/Likely benign	0	2	9	8
MUT:FANCI:Asn1224Lys	PROT:Q9NVI1	FANCI	N	1224	K	N1224K	Likely benign	0	1	9	56
MUT:FANCI:Cys1014Tyr	PROT:Q9NVI1	FANCI	C	1014	Y	C1014Y	Pathogenic/Likely pathogenic	1	2	9	47
MUT:FANCI:Cys742Ser	PROT:Q9NVI1	FANCI	C	742	S	C742S	Benign	0	2	9	12
MUT:FANCI:Cys750Arg	PROT:Q9NVI1	FANCI	C	750	R	C750R	Pathogenic	1	1	9	20
MUT:FANCI:Gln1236His	PROT:Q9NVI1	FANCI	Q	1236	H	Q1236H	Benign/Likely benign	0	5	9	44
MUT:FANCI:Gln686Lys	PROT:Q9NVI1	FANCI	Q	686	K	Q686K	Benign/Likely benign	0	2	9	44
MUT:FANCI:Glu868Asp	PROT:Q9NVI1	FANCI	E	868	D	E868D	Benign/Likely benign	0	2	9	14
MUT:FANCI:Glu96Lys	PROT:Q9NVI1	FANCI	E	96	K	E96K	Benign/Likely benign	0	2	9	44
MUT:FANCI:Gly1316Glu	PROT:Q9NVI1	FANCI	G	1316	E	G1316E	Likely benign	0	1	9	26
MUT:FANCI:His574Arg	PROT:Q9NVI1	FANCI	H	574	R	H574R	Likely benign	0	1	9	51
MUT:FANCI:His858Tyr	PROT:Q9NVI1	FANCI	H	858	Y	H858Y	Pathogenic	1	1	9	4
MUT:FANCI:Ile1289Val	PROT:Q9NVI1	FANCI	I	1289	V	I1289V	Benign/Likely benign	0	4	9	1
MUT:FANCI:Ile404Thr	PROT:Q9NVI1	FANCI	I	404	T	I404T	Benign/Likely benign	0	2	9	119
MUT:FANCI:Ile671Val	PROT:Q9NVI1	FANCI	I	671	V	I671V	Benign/Likely benign	0	2	9	59
MUT:FANCI:Ile877Leu	PROT:Q9NVI1	FANCI	I	877	L	I877L	Benign	0	2	9	15
MUT:FANCI:Leu605Phe	PROT:Q9NVI1	FANCI	L	605	F	L605F	Benign/Likely benign	0	3	9	82
MUT:FANCI:Leu631Phe	PROT:Q9NVI1	FANCI	L	631	F	L631F	Benign/Likely benign	0	2	9	99
MUT:FANCI:Leu969Phe	PROT:Q9NVI1	FANCI	L	969	F	L969F	Likely benign	0	1	9	17
MUT:FANCI:Lys939Asn	PROT:Q9NVI1	FANCI	K	939	N	K939N	Benign/Likely benign	0	3	9	13
MUT:FANCI:Met1Thr	PROT:Q9NVI1	FANCI	M	1	T	M1T	Pathogenic	1	1	9	51
MUT:FANCI:Pro55Leu	PROT:Q9NVI1	FANCI	P	55	L	P55L	Benign	0	2	9	3
MUT:FANCI:Thr1174Ile	PROT:Q9NVI1	FANCI	T	1174	I	T1174I	Pathogenic	1	1	9	106
MUT:FANCI:Thr990Ser	PROT:Q9NVI1	FANCI	T	990	S	T990S	Likely benign	0	1	9	38
MUT:FANCI:Val290Met	PROT:Q9NVI1	FANCI	V	290	M	V290M	Benign	0	2	9	233
MUT:FANCI:Val372Ile	PROT:Q9NVI1	FANCI	V	372	I	V372I	Benign	0	2	9	151
MUT:FANCL:Gln282His	PROT:Q9NW38	FANCL	Q	282	H	Q282H	Likely benign	0	1	10	16
MUT:FANCL:Gly372Ala	PROT:Q9NW38	FANCL	G	372	A	G372A	Likely benign	0	2	10	8
MUT:FANCL:His375Pro	PROT:Q9NW38	FANCL	H	375	P	H375P	Likely benign	0	1	10	11
MUT:FANCL:Met1Arg	PROT:Q9NW38	FANCL	M	1	R	M1R	Pathogenic	1	1	10	3
MUT:FANCL:Met1Ile	PROT:Q9NW38	FANCL	M	1	I	M1I	Pathogenic	1	1	10	3
MUT:FANCL:Met1Leu	PROT:Q9NW38	FANCL	M	1	L	M1L	Pathogenic/Likely pathogenic	1	1	10	3
MUT:FANCL:Met1Thr	PROT:Q9NW38	FANCL	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	10	3
MUT:FANCL:Met1Val	PROT:Q9NW38	FANCL	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	10	3
MUT:FANCL:Met247Val	PROT:Q9NW38	FANCL	M	247	V	M247V	Benign	0	2	10	14
MUT:FANCL:Phe252Cys	PROT:Q9NW38	FANCL	F	252	C	F252C	Benign/Likely benign	0	3	10	9
MUT:FANCL:Phe36Leu	PROT:Q9NW38	FANCL	F	36	L	F36L	Benign/Likely benign	0	3	10	13
MUT:FANCL:Thr224Ala	PROT:Q9NW38	FANCL	T	224	A	T224A	Benign/Likely benign	0	2	10	6
MUT:FANCL:Thr318Ala	PROT:Q9NW38	FANCL	T	318	A	T318A	Likely benign	0	1	10	46
MUT:FARSB:Ala93Pro	PROT:Q9NSD9	FARSB	A	93	P	A93P	Benign	0	1	21	4
MUT:FARSB:Arg154Gly	PROT:Q9NSD9	FARSB	R	154	G	R154G	Pathogenic	1	1	21	9
MUT:FARSB:Arg17Cys	PROT:Q9NSD9	FARSB	R	17	C	R17C	Likely benign	0	1	21	36
MUT:FARSB:Arg305Gln	PROT:Q9NSD9	FARSB	R	305	Q	R305Q	Likely pathogenic	1	1	21	11
MUT:FARSB:Arg401Gln	PROT:Q9NSD9	FARSB	R	401	Q	R401Q	Pathogenic	1	1	21	34
MUT:FARSB:Glu285Lys	PROT:Q9NSD9	FARSB	E	285	K	E285K	Pathogenic/Likely pathogenic	1	2	21	23
MUT:FARSB:Ile358Val	PROT:Q9NSD9	FARSB	I	358	V	I358V	Likely benign	0	1	21	29
MUT:FARSB:Lys329Arg	PROT:Q9NSD9	FARSB	K	329	R	K329R	Likely benign	0	1	21	0
MUT:FARSB:Phe252Ser	PROT:Q9NSD9	FARSB	F	252	S	F252S	Pathogenic	1	1	21	10
MUT:FARSB:Thr461Pro	PROT:Q9NSD9	FARSB	T	461	P	T461P	Pathogenic	1	1	21	1
MUT:FARSB:Val558Ile	PROT:Q9NSD9	FARSB	V	558	I	V558I	Likely benign	0	1	21	2
MUT:FARSB:Val585Ile	PROT:Q9NSD9	FARSB	V	585	I	V585I	Benign	0	1	21	25
MUT:FASTK:Gly205Arg	PROT:Q14296	FASTK	G	205	R	G205R	Likely benign	0	1	6	78
MUT:FASTKD5:Arg404Cys	PROT:Q7L8L6	FASTKD5	R	404	C	R404C	Pathogenic	1	2	1	43
MUT:FASTKD5:Leu634Pro	PROT:Q7L8L6	FASTKD5	L	634	P	L634P	Pathogenic	1	2	1	273
MUT:FASTKD5:Tyr125Cys	PROT:Q7L8L6	FASTKD5	Y	125	C	Y125C	Pathogenic	1	2	1	236
MUT:FAT3:Ala3418Ser	PROT:Q8TDW7	FAT3	A	3418	S	A3418S	Likely benign	0	1	1	2094
MUT:FAT3:Ala3607Thr	PROT:Q8TDW7	FAT3	A	3607	T	A3607T	Likely benign	0	1	1	2283
MUT:FAT3:Ala3964Thr	PROT:Q8TDW7	FAT3	A	3964	T	A3964T	Benign	0	1	1	2640
MUT:FAT3:Ala4475Thr	PROT:Q8TDW7	FAT3	A	4475	T	A4475T	Benign	0	1	1	3151
MUT:FAT3:Arg1733His	PROT:Q8TDW7	FAT3	R	1733	H	R1733H	Benign	0	1	1	409
MUT:FAT3:Arg2457Gln	PROT:Q8TDW7	FAT3	R	2457	Q	R2457Q	Likely benign	0	1	1	1133
MUT:FAT3:Arg2519Gln	PROT:Q8TDW7	FAT3	R	2519	Q	R2519Q	Likely benign	0	1	1	1195
MUT:FAT3:Arg3408Trp	PROT:Q8TDW7	FAT3	R	3408	W	R3408W	Likely benign	0	4	1	2084
MUT:FAT3:Arg3538His	PROT:Q8TDW7	FAT3	R	3538	H	R3538H	Likely benign	0	1	1	2214
MUT:FAT3:Arg3686His	PROT:Q8TDW7	FAT3	R	3686	H	R3686H	Likely benign	0	1	1	2362
MUT:FAT3:Arg3726Thr	PROT:Q8TDW7	FAT3	R	3726	T	R3726T	Likely benign	0	1	1	2402
MUT:FAT3:Cys356Tyr	PROT:Q8TDW7	FAT3	C	356	Y	C356Y	Benign	0	1	1	968
MUT:FAT3:Gln2459Arg	PROT:Q8TDW7	FAT3	Q	2459	R	Q2459R	Likely benign	0	1	1	1135
MUT:FAT3:Gln2995Lys	PROT:Q8TDW7	FAT3	Q	2995	K	Q2995K	Benign	0	1	1	1671
MUT:FAT3:Gln3375Arg	PROT:Q8TDW7	FAT3	Q	3375	R	Q3375R	Benign	0	1	1	2051
MUT:FAT3:Glu1478Asp	PROT:Q8TDW7	FAT3	E	1478	D	E1478D	Likely benign	0	1	1	154
MUT:FAT3:His2359Tyr	PROT:Q8TDW7	FAT3	H	2359	Y	H2359Y	Benign	0	1	1	1035
MUT:FAT3:Ile1533Thr	PROT:Q8TDW7	FAT3	I	1533	T	I1533T	Benign	0	1	1	209
MUT:FAT3:Ile3203Val	PROT:Q8TDW7	FAT3	I	3203	V	I3203V	Likely benign	0	1	1	1879
MUT:FAT3:Ile3329Val	PROT:Q8TDW7	FAT3	I	3329	V	I3329V	Benign	0	1	1	2005
MUT:FAT3:Leu4576Phe	PROT:Q8TDW7	FAT3	L	4576	F	L4576F	Likely benign	0	1	1	3252
MUT:FAT3:Leu517Ser	PROT:Q8TDW7	FAT3	L	517	S	L517S	Likely benign	0	1	1	807
MUT:FAT3:Phe2426Val	PROT:Q8TDW7	FAT3	F	2426	V	F2426V	Likely benign	0	1	1	1102
MUT:FAT3:Ser3709Ile	PROT:Q8TDW7	FAT3	S	3709	I	S3709I	Benign	0	1	1	2385
MUT:FAT3:Ser412Phe	PROT:Q8TDW7	FAT3	S	412	F	S412F	Benign	0	1	1	912
MUT:FAT3:Thr1567Ser	PROT:Q8TDW7	FAT3	T	1567	S	T1567S	Likely benign	0	1	1	243
MUT:FAT3:Thr3431Ala	PROT:Q8TDW7	FAT3	T	3431	A	T3431A	Benign	0	1	1	2107
MUT:FAT3:Val1657Leu	PROT:Q8TDW7	FAT3	V	1657	L	V1657L	Likely benign	0	1	1	333
MUT:FAT3:Val2622Phe	PROT:Q8TDW7	FAT3	V	2622	F	V2622F	Likely benign	0	1	1	1298
MUT:FAT3:Val2945Ile	PROT:Q8TDW7	FAT3	V	2945	I	V2945I	Benign	0	1	1	1621
MUT:FAT3:Val3518Met	PROT:Q8TDW7	FAT3	V	3518	M	V3518M	Likely benign	0	1	1	2194
MUT:FAT3:Val4138Met	PROT:Q8TDW7	FAT3	V	4138	M	V4138M	Likely benign	0	1	1	2814
MUT:FBLN1:Ala564Thr	PROT:P23142	FBLN1	A	564	T	A564T	Benign/Likely benign	0	1	7	314
MUT:FBLN1:Arg642Leu	PROT:P23142	FBLN1	R	642	L	R642L	Benign/Likely benign	0	1	7	392
MUT:FBLN1:Gln141Arg	PROT:P23142	FBLN1	Q	141	R	Q141R	Benign	0	1	7	6
MUT:FBLN1:Thr566Met	PROT:P23142	FBLN1	T	566	M	T566M	Likely benign	0	1	7	316
MUT:FBLN1:Val457Ile	PROT:P23142	FBLN1	V	457	I	V457I	Likely benign	0	1	7	207
MUT:FBN1:Ala1728Thr	PROT:P35555	FBN1	A	1728	T	A1728T	Pathogenic	1	2	22	193
MUT:FBN1:Ala1728Val	PROT:P35555	FBN1	A	1728	V	A1728V	Pathogenic/Likely pathogenic	1	8	22	193
MUT:FBN1:Ala2025Ser	PROT:P35555	FBN1	A	2025	S	A2025S	Benign/Likely benign	0	3	22	199
MUT:FBN1:Ala2635Thr	PROT:P35555	FBN1	A	2635	T	A2635T	Benign/Likely benign	0	2	22	67
MUT:FBN1:Ala27Thr	PROT:P35555	FBN1	A	27	T	A27T	Benign	0	7	22	88
MUT:FBN1:Ala362Val	PROT:P35555	FBN1	A	362	V	A362V	Likely benign	0	1	22	247
MUT:FBN1:Ala882Thr	PROT:P35555	FBN1	A	882	T	A882T	Pathogenic/Likely pathogenic	1	2	22	22
MUT:FBN1:Ala882Val	PROT:P35555	FBN1	A	882	V	A882V	Pathogenic/Likely pathogenic	1	4	22	22
MUT:FBN1:Ala986Thr	PROT:P35555	FBN1	A	986	T	A986T	Benign	0	9	22	31
MUT:FBN1:Arg1137Pro	PROT:P35555	FBN1	R	1137	P	R1137P	Pathogenic	1	1	22	34
MUT:FBN1:Arg1170His	PROT:P35555	FBN1	R	1170	H	R1170H	Benign	0	10	22	67
MUT:FBN1:Arg122Cys	PROT:P35555	FBN1	R	122	C	R122C	Pathogenic	1	3	22	7
MUT:FBN1:Arg1469Pro	PROT:P35555	FBN1	R	1469	P	R1469P	Likely pathogenic	1	2	22	66
MUT:FBN1:Arg1530Cys	PROT:P35555	FBN1	R	1530	C	R1530C	Pathogenic/Likely pathogenic	1	4	22	5
MUT:FBN1:Arg1530Pro	PROT:P35555	FBN1	R	1530	P	R1530P	Likely pathogenic	1	2	22	5
MUT:FBN1:Arg1596Pro	PROT:P35555	FBN1	R	1596	P	R1596P	Likely pathogenic	1	2	22	61
MUT:FBN1:Arg1840Cys	PROT:P35555	FBN1	R	1840	C	R1840C	Likely pathogenic	1	3	22	305
MUT:FBN1:Arg1915Cys	PROT:P35555	FBN1	R	1915	C	R1915C	Pathogenic	1	3	22	309
MUT:FBN1:Arg2108Cys	PROT:P35555	FBN1	R	2108	C	R2108C	Pathogenic/Likely pathogenic	1	1	22	116
MUT:FBN1:Arg2150Cys	PROT:P35555	FBN1	R	2150	C	R2150C	Pathogenic	1	2	22	74
MUT:FBN1:Arg2335Trp	PROT:P35555	FBN1	R	2335	W	R2335W	Likely pathogenic	1	2	22	52
MUT:FBN1:Arg240Cys	PROT:P35555	FBN1	R	240	C	R240C	Pathogenic/Likely pathogenic	1	5	22	125
MUT:FBN1:Arg2576Cys	PROT:P35555	FBN1	R	2576	C	R2576C	Pathogenic	1	6	22	12
MUT:FBN1:Arg2680Cys	PROT:P35555	FBN1	R	2680	C	R2680C	Pathogenic/Likely pathogenic	1	3	22	22
MUT:FBN1:Arg344Cys	PROT:P35555	FBN1	R	344	C	R344C	Likely pathogenic	1	2	22	229
MUT:FBN1:Arg464Cys	PROT:P35555	FBN1	R	464	C	R464C	Likely pathogenic	1	2	22	202
MUT:FBN1:Arg485Cys	PROT:P35555	FBN1	R	485	C	R485C	Pathogenic	1	3	22	181
MUT:FBN1:Arg539Gln	PROT:P35555	FBN1	R	539	Q	R539Q	Likely benign	0	1	22	127
MUT:FBN1:Arg545Cys	PROT:P35555	FBN1	R	545	C	R545C	Pathogenic/Likely pathogenic	1	4	22	121
MUT:FBN1:Arg545Pro	PROT:P35555	FBN1	R	545	P	R545P	Likely pathogenic	1	1	22	121
MUT:FBN1:Arg627Cys	PROT:P35555	FBN1	R	627	C	R627C	Pathogenic	1	3	22	39
MUT:FBN1:Arg62Cys	PROT:P35555	FBN1	R	62	C	R62C	Pathogenic	1	3	22	53
MUT:FBN1:Arg650Cys	PROT:P35555	FBN1	R	650	C	R650C	Pathogenic/Likely pathogenic	1	2	22	16
MUT:FBN1:Arg954Cys	PROT:P35555	FBN1	R	954	C	R954C	Pathogenic/Likely pathogenic	1	4	22	50
MUT:FBN1:Arg954Leu	PROT:P35555	FBN1	R	954	L	R954L	Likely pathogenic	1	2	22	50
MUT:FBN1:Arg961Ser	PROT:P35555	FBN1	R	961	S	R961S	Likely benign	0	2	22	56
MUT:FBN1:Arg974Cys	PROT:P35555	FBN1	R	974	C	R974C	Pathogenic/Likely pathogenic	1	4	22	43
MUT:FBN1:Asn1046Ser	PROT:P35555	FBN1	N	1046	S	N1046S	Likely pathogenic	1	1	22	3
MUT:FBN1:Asn1131Ser	PROT:P35555	FBN1	N	1131	S	N1131S	Likely pathogenic	1	1	22	28
MUT:FBN1:Asn1131Tyr	PROT:P35555	FBN1	N	1131	Y	N1131Y	Pathogenic	1	1	22	28
MUT:FBN1:Asn1173Thr	PROT:P35555	FBN1	N	1173	T	N1173T	Likely pathogenic	1	1	22	70
MUT:FBN1:Asn1214Ser	PROT:P35555	FBN1	N	1214	S	N1214S	Likely pathogenic	1	1	22	111
MUT:FBN1:Asn1298His	PROT:P35555	FBN1	N	1298	H	N1298H	Pathogenic	1	1	22	42
MUT:FBN1:Asn1382Ile	PROT:P35555	FBN1	N	1382	I	N1382I	Likely benign	0	1	22	37
MUT:FBN1:Asn1463Thr	PROT:P35555	FBN1	N	1463	T	N1463T	Likely pathogenic	1	1	22	72
MUT:FBN1:Asn1489Lys	PROT:P35555	FBN1	N	1489	K	N1489K	Pathogenic/Likely pathogenic	1	3	22	46
MUT:FBN1:Asn1504Ser	PROT:P35555	FBN1	N	1504	S	N1504S	Pathogenic	1	1	22	31
MUT:FBN1:Asn1893Ser	PROT:P35555	FBN1	N	1893	S	N1893S	Likely pathogenic	1	2	22	331
MUT:FBN1:Asn1907Asp	PROT:P35555	FBN1	N	1907	D	N1907D	Likely pathogenic	1	1	22	317
MUT:FBN1:Asn1907Lys	PROT:P35555	FBN1	N	1907	K	N1907K	Likely pathogenic	1	1	22	317
MUT:FBN1:Asn1975Lys	PROT:P35555	FBN1	N	1975	K	N1975K	Likely pathogenic	1	1	22	249
MUT:FBN1:Asn2144Ser	PROT:P35555	FBN1	N	2144	S	N2144S	Pathogenic/Likely pathogenic	1	2	22	80
MUT:FBN1:Asn2223Lys	PROT:P35555	FBN1	N	2223	K	N2223K	Likely pathogenic	1	1	22	1
MUT:FBN1:Asn2461Thr	PROT:P35555	FBN1	N	2461	T	N2461T	Likely pathogenic	1	1	22	73
MUT:FBN1:Asn2526Ser	PROT:P35555	FBN1	N	2526	S	N2526S	Likely pathogenic	1	2	22	35
MUT:FBN1:Asn2624Asp	PROT:P35555	FBN1	N	2624	D	N2624D	Likely pathogenic	1	1	22	60
MUT:FBN1:Asn2624Ser	PROT:P35555	FBN1	N	2624	S	N2624S	Pathogenic/Likely pathogenic	1	1	22	60
MUT:FBN1:Asn2773Ile	PROT:P35555	FBN1	N	2773	I	N2773I	Likely pathogenic	1	1	22	62
MUT:FBN1:Asn548Ile	PROT:P35555	FBN1	N	548	I	N548I	Pathogenic/Likely pathogenic	1	2	22	118
MUT:FBN1:Asn589Ser	PROT:P35555	FBN1	N	589	S	N589S	Pathogenic/Likely pathogenic	1	1	22	77
MUT:FBN1:Asn630His	PROT:P35555	FBN1	N	630	H	N630H	Likely pathogenic	1	1	22	36
MUT:FBN1:Asn630Tyr	PROT:P35555	FBN1	N	630	Y	N630Y	Likely pathogenic	1	1	22	36
MUT:FBN1:Asn741Lys	PROT:P35555	FBN1	N	741	K	N741K	Likely pathogenic	1	1	22	6
MUT:FBN1:Asp1028Gly	PROT:P35555	FBN1	D	1028	G	D1028G	Likely pathogenic	1	3	22	9
MUT:FBN1:Asp1072His	PROT:P35555	FBN1	D	1072	H	D1072H	Likely pathogenic	1	1	22	22
MUT:FBN1:Asp1113Gly	PROT:P35555	FBN1	D	1113	G	D1113G	Pathogenic/Likely pathogenic	1	1	22	10
MUT:FBN1:Asp1115Gly	PROT:P35555	FBN1	D	1115	G	D1115G	Pathogenic/Likely pathogenic	1	1	22	12
MUT:FBN1:Asp1155Asn	PROT:P35555	FBN1	D	1155	N	D1155N	Pathogenic/Likely pathogenic	1	5	22	52
MUT:FBN1:Asp1197Asn	PROT:P35555	FBN1	D	1197	N	D1197N	Likely pathogenic	1	3	22	94
MUT:FBN1:Asp1197Gly	PROT:P35555	FBN1	D	1197	G	D1197G	Likely pathogenic	1	1	22	94
MUT:FBN1:Asp1197His	PROT:P35555	FBN1	D	1197	H	D1197H	Likely pathogenic	1	1	22	94
MUT:FBN1:Asp1199Gly	PROT:P35555	FBN1	D	1199	G	D1199G	Pathogenic/Likely pathogenic	1	2	22	96
MUT:FBN1:Asp1238Ala	PROT:P35555	FBN1	D	1238	A	D1238A	Likely pathogenic	1	1	22	102
MUT:FBN1:Asp1238Asn	PROT:P35555	FBN1	D	1238	N	D1238N	Pathogenic	1	4	22	102
MUT:FBN1:Asp1238Glu	PROT:P35555	FBN1	D	1238	E	D1238E	Likely pathogenic	1	1	22	102
MUT:FBN1:Asp1280Asn	PROT:P35555	FBN1	D	1280	N	D1280N	Likely pathogenic	1	1	22	60
MUT:FBN1:Asp1280Val	PROT:P35555	FBN1	D	1280	V	D1280V	Likely pathogenic	1	1	22	60
MUT:FBN1:Asp1322Asn	PROT:P35555	FBN1	D	1322	N	D1322N	Pathogenic/Likely pathogenic	1	1	22	18
MUT:FBN1:Asp1398Asn	PROT:P35555	FBN1	D	1398	N	D1398N	Likely pathogenic	1	1	22	53
MUT:FBN1:Asp1404Gly	PROT:P35555	FBN1	D	1404	G	D1404G	Likely pathogenic	1	1	22	59
MUT:FBN1:Asp1406Gly	PROT:P35555	FBN1	D	1406	G	D1406G	Pathogenic/Likely pathogenic	1	1	22	61
MUT:FBN1:Asp1446Asn	PROT:P35555	FBN1	D	1446	N	D1446N	Pathogenic/Likely pathogenic	1	1	22	89
MUT:FBN1:Asp1487Asn	PROT:P35555	FBN1	D	1487	N	D1487N	Pathogenic	1	2	22	48
MUT:FBN1:Asp1487Gly	PROT:P35555	FBN1	D	1487	G	D1487G	Pathogenic/Likely pathogenic	1	1	22	48
MUT:FBN1:Asp1648Asn	PROT:P35555	FBN1	D	1648	N	D1648N	Pathogenic/Likely pathogenic	1	1	22	113
MUT:FBN1:Asp1766Asn	PROT:P35555	FBN1	D	1766	N	D1766N	Likely pathogenic	1	1	22	231
MUT:FBN1:Asp1808Asn	PROT:P35555	FBN1	D	1808	N	D1808N	Likely pathogenic	1	1	22	273
MUT:FBN1:Asp1891Asn	PROT:P35555	FBN1	D	1891	N	D1891N	Pathogenic/Likely pathogenic	1	1	22	333
MUT:FBN1:Asp1891His	PROT:P35555	FBN1	D	1891	H	D1891H	Likely pathogenic	1	1	22	333
MUT:FBN1:Asp1930Asn	PROT:P35555	FBN1	D	1930	N	D1930N	Pathogenic/Likely pathogenic	1	2	22	294
MUT:FBN1:Asp1930Tyr	PROT:P35555	FBN1	D	1930	Y	D1930Y	Likely pathogenic	1	1	22	294
MUT:FBN1:Asp2013Asn	PROT:P35555	FBN1	D	2013	N	D2013N	Likely pathogenic	1	1	22	211
MUT:FBN1:Asp2013His	PROT:P35555	FBN1	D	2013	H	D2013H	Likely pathogenic	1	1	22	211
MUT:FBN1:Asp2127Gly	PROT:P35555	FBN1	D	2127	G	D2127G	Likely pathogenic	1	1	22	97
MUT:FBN1:Asp2129Gly	PROT:P35555	FBN1	D	2129	G	D2129G	Likely pathogenic	1	1	22	95
MUT:FBN1:Asp2129Tyr	PROT:P35555	FBN1	D	2129	Y	D2129Y	Likely pathogenic	1	1	22	95
MUT:FBN1:Asp2329Glu	PROT:P35555	FBN1	D	2329	E	D2329E	Benign/Likely benign	0	7	22	58
MUT:FBN1:Asp2402Asn	PROT:P35555	FBN1	D	2402	N	D2402N	Likely pathogenic	1	1	22	14
MUT:FBN1:Asp2485Gly	PROT:P35555	FBN1	D	2485	G	D2485G	Likely pathogenic	1	2	22	76
MUT:FBN1:Asp2487Gly	PROT:P35555	FBN1	D	2487	G	D2487G	Likely pathogenic	1	1	22	74
MUT:FBN1:Asp2567His	PROT:P35555	FBN1	D	2567	H	D2567H	Likely pathogenic	1	1	22	3
MUT:FBN1:Asp2569Val	PROT:P35555	FBN1	D	2569	V	D2569V	Likely pathogenic	1	1	22	5
MUT:FBN1:Asp2607Asn	PROT:P35555	FBN1	D	2607	N	D2607N	Likely pathogenic	1	2	22	43
MUT:FBN1:Asp490Tyr	PROT:P35555	FBN1	D	490	Y	D490Y	Likely pathogenic	1	1	22	176
MUT:FBN1:Asp572Val	PROT:P35555	FBN1	D	572	V	D572V	Likely pathogenic	1	1	22	94
MUT:FBN1:Asp613Asn	PROT:P35555	FBN1	D	613	N	D613N	Pathogenic/Likely pathogenic	1	1	22	53
MUT:FBN1:Asp723Ala	PROT:P35555	FBN1	D	723	A	D723A	Pathogenic/Likely pathogenic	1	2	22	24
MUT:FBN1:Asp723Gly	PROT:P35555	FBN1	D	723	G	D723G	Likely pathogenic	1	1	22	24
MUT:FBN1:Asp723Tyr	PROT:P35555	FBN1	D	723	Y	D723Y	Likely pathogenic	1	1	22	24
MUT:FBN1:Asp893His	PROT:P35555	FBN1	D	893	H	D893H	Likely pathogenic	1	1	22	11
MUT:FBN1:Asp952His	PROT:P35555	FBN1	D	952	H	D952H	Likely pathogenic	1	1	22	48
MUT:FBN1:Cys1008Arg	PROT:P35555	FBN1	C	1008	R	C1008R	Pathogenic/Likely pathogenic	1	1	22	9
MUT:FBN1:Cys100Arg	PROT:P35555	FBN1	C	100	R	C100R	Pathogenic	1	1	22	15
MUT:FBN1:Cys100Phe	PROT:P35555	FBN1	C	100	F	C100F	Likely pathogenic	1	1	22	15
MUT:FBN1:Cys100Tyr	PROT:P35555	FBN1	C	100	Y	C100Y	Pathogenic/Likely pathogenic	1	1	22	15
MUT:FBN1:Cys102Arg	PROT:P35555	FBN1	C	102	R	C102R	Likely pathogenic	1	1	22	13
MUT:FBN1:Cys102Ser	PROT:P35555	FBN1	C	102	S	C102S	Likely pathogenic	1	1	22	13
MUT:FBN1:Cys102Tyr	PROT:P35555	FBN1	C	102	Y	C102Y	Likely pathogenic	1	2	22	13
MUT:FBN1:Cys1032Tyr	PROT:P35555	FBN1	C	1032	Y	C1032Y	Pathogenic	1	1	22	5
MUT:FBN1:Cys1039Arg	PROT:P35555	FBN1	C	1039	R	C1039R	Likely pathogenic	1	1	22	2
MUT:FBN1:Cys1039Trp	PROT:P35555	FBN1	C	1039	W	C1039W	Likely pathogenic	1	1	22	2
MUT:FBN1:Cys1044Gly	PROT:P35555	FBN1	C	1044	G	C1044G	Pathogenic	1	1	22	1
MUT:FBN1:Cys1053Gly	PROT:P35555	FBN1	C	1053	G	C1053G	Likely pathogenic	1	1	22	3
MUT:FBN1:Cys1053Ser	PROT:P35555	FBN1	C	1053	S	C1053S	Likely pathogenic	1	1	22	3
MUT:FBN1:Cys1053Trp	PROT:P35555	FBN1	C	1053	W	C1053W	Pathogenic	1	1	22	3
MUT:FBN1:Cys1055Trp	PROT:P35555	FBN1	C	1055	W	C1055W	Likely pathogenic	1	1	22	5
MUT:FBN1:Cys1055Tyr	PROT:P35555	FBN1	C	1055	Y	C1055Y	Pathogenic/Likely pathogenic	1	1	22	5
MUT:FBN1:Cys1068Arg	PROT:P35555	FBN1	C	1068	R	C1068R	Pathogenic	1	1	22	18
MUT:FBN1:Cys1068Tyr	PROT:P35555	FBN1	C	1068	Y	C1068Y	Pathogenic	1	1	22	18
MUT:FBN1:Cys1074Arg	PROT:P35555	FBN1	C	1074	R	C1074R	Pathogenic	1	1	22	24
MUT:FBN1:Cys1086Arg	PROT:P35555	FBN1	C	1086	R	C1086R	Pathogenic	1	1	22	17
MUT:FBN1:Cys1086Ser	PROT:P35555	FBN1	C	1086	S	C1086S	Pathogenic	1	1	22	17
MUT:FBN1:Cys1086Tyr	PROT:P35555	FBN1	C	1086	Y	C1086Y	Pathogenic	1	1	22	17
MUT:FBN1:Cys1095Ser	PROT:P35555	FBN1	C	1095	S	C1095S	Likely pathogenic	1	1	22	8
MUT:FBN1:Cys1097Phe	PROT:P35555	FBN1	C	1097	F	C1097F	Likely pathogenic	1	1	22	6
MUT:FBN1:Cys1097Tyr	PROT:P35555	FBN1	C	1097	Y	C1097Y	Pathogenic	1	1	22	6
MUT:FBN1:Cys1111Phe	PROT:P35555	FBN1	C	1111	F	C1111F	Likely pathogenic	1	1	22	8
MUT:FBN1:Cys1111Tyr	PROT:P35555	FBN1	C	1111	Y	C1111Y	Pathogenic	1	1	22	8
MUT:FBN1:Cys1117Phe	PROT:P35555	FBN1	C	1117	F	C1117F	Pathogenic	1	1	22	14
MUT:FBN1:Cys1117Tyr	PROT:P35555	FBN1	C	1117	Y	C1117Y	Pathogenic	1	1	22	14
MUT:FBN1:Cys111Gly	PROT:P35555	FBN1	C	111	G	C111G	Likely pathogenic	1	1	22	4
MUT:FBN1:Cys1124Gly	PROT:P35555	FBN1	C	1124	G	C1124G	Pathogenic	1	1	22	21
MUT:FBN1:Cys1129Tyr	PROT:P35555	FBN1	C	1129	Y	C1129Y	Pathogenic	1	1	22	26
MUT:FBN1:Cys1138Arg	PROT:P35555	FBN1	C	1138	R	C1138R	Pathogenic	1	1	22	35
MUT:FBN1:Cys1138Phe	PROT:P35555	FBN1	C	1138	F	C1138F	Pathogenic/Likely pathogenic	1	1	22	35
MUT:FBN1:Cys1138Ser	PROT:P35555	FBN1	C	1138	S	C1138S	Pathogenic/Likely pathogenic	1	2	22	35
MUT:FBN1:Cys1138Tyr	PROT:P35555	FBN1	C	1138	Y	C1138Y	Likely pathogenic	1	1	22	35
MUT:FBN1:Cys1140Phe	PROT:P35555	FBN1	C	1140	F	C1140F	Likely pathogenic	1	1	22	37
MUT:FBN1:Cys1153Arg	PROT:P35555	FBN1	C	1153	R	C1153R	Likely pathogenic	1	2	22	50
MUT:FBN1:Cys1153Phe	PROT:P35555	FBN1	C	1153	F	C1153F	Pathogenic	1	1	22	50
MUT:FBN1:Cys1153Tyr	PROT:P35555	FBN1	C	1153	Y	C1153Y	Pathogenic/Likely pathogenic	1	2	22	50
MUT:FBN1:Cys1159Arg	PROT:P35555	FBN1	C	1159	R	C1159R	Pathogenic/Likely pathogenic	1	2	22	56
MUT:FBN1:Cys1159Tyr	PROT:P35555	FBN1	C	1159	Y	C1159Y	Pathogenic	1	1	22	56
MUT:FBN1:Cys1171Trp	PROT:P35555	FBN1	C	1171	W	C1171W	Likely pathogenic	1	2	22	68
MUT:FBN1:Cys1171Tyr	PROT:P35555	FBN1	C	1171	Y	C1171Y	Pathogenic	1	1	22	68
MUT:FBN1:Cys1180Tyr	PROT:P35555	FBN1	C	1180	Y	C1180Y	Pathogenic	1	1	22	77
MUT:FBN1:Cys1182Tyr	PROT:P35555	FBN1	C	1182	Y	C1182Y	Pathogenic/Likely pathogenic	1	2	22	79
MUT:FBN1:Cys1195Tyr	PROT:P35555	FBN1	C	1195	Y	C1195Y	Likely pathogenic	1	1	22	92
MUT:FBN1:Cys119Arg	PROT:P35555	FBN1	C	119	R	C119R	Likely pathogenic	1	1	22	4
MUT:FBN1:Cys119Gly	PROT:P35555	FBN1	C	119	G	C119G	Pathogenic	1	1	22	4
MUT:FBN1:Cys119Tyr	PROT:P35555	FBN1	C	119	Y	C119Y	Pathogenic/Likely pathogenic	1	1	22	4
MUT:FBN1:Cys1201Tyr	PROT:P35555	FBN1	C	1201	Y	C1201Y	Likely pathogenic	1	1	22	98
MUT:FBN1:Cys1208Phe	PROT:P35555	FBN1	C	1208	F	C1208F	Pathogenic/Likely pathogenic	1	2	22	105
MUT:FBN1:Cys1212Tyr	PROT:P35555	FBN1	C	1212	Y	C1212Y	Likely pathogenic	1	1	22	109
MUT:FBN1:Cys1221Tyr	PROT:P35555	FBN1	C	1221	Y	C1221Y	Pathogenic	1	1	22	118
MUT:FBN1:Cys1223Tyr	PROT:P35555	FBN1	C	1223	Y	C1223Y	Pathogenic	1	1	22	117
MUT:FBN1:Cys1236Arg	PROT:P35555	FBN1	C	1236	R	C1236R	Likely pathogenic	1	1	22	104
MUT:FBN1:Cys1236Tyr	PROT:P35555	FBN1	C	1236	Y	C1236Y	Pathogenic	1	1	22	104
MUT:FBN1:Cys123Tyr	PROT:P35555	FBN1	C	123	Y	C123Y	Pathogenic	1	2	22	8
MUT:FBN1:Cys1242Trp	PROT:P35555	FBN1	C	1242	W	C1242W	Likely pathogenic	1	1	22	98
MUT:FBN1:Cys1242Tyr	PROT:P35555	FBN1	C	1242	Y	C1242Y	Pathogenic	1	1	22	98
MUT:FBN1:Cys1249Ser	PROT:P35555	FBN1	C	1249	S	C1249S	Likely pathogenic	1	2	22	91
MUT:FBN1:Cys1265Arg	PROT:P35555	FBN1	C	1265	R	C1265R	Pathogenic	1	1	22	75
MUT:FBN1:Cys1265Gly	PROT:P35555	FBN1	C	1265	G	C1265G	Likely pathogenic	1	1	22	75
MUT:FBN1:Cys1265Tyr	PROT:P35555	FBN1	C	1265	Y	C1265Y	Pathogenic/Likely pathogenic	1	2	22	75
MUT:FBN1:Cys1278Ser	PROT:P35555	FBN1	C	1278	S	C1278S	Likely pathogenic	1	2	22	62
MUT:FBN1:Cys1278Trp	PROT:P35555	FBN1	C	1278	W	C1278W	Pathogenic/Likely pathogenic	1	2	22	62
MUT:FBN1:Cys1284Tyr	PROT:P35555	FBN1	C	1284	Y	C1284Y	Pathogenic/Likely pathogenic	1	1	22	56
MUT:FBN1:Cys1296Arg	PROT:P35555	FBN1	C	1296	R	C1296R	Likely pathogenic	1	1	22	44
MUT:FBN1:Cys129Gly	PROT:P35555	FBN1	C	129	G	C129G	Pathogenic	1	1	22	14
MUT:FBN1:Cys129Ser	PROT:P35555	FBN1	C	129	S	C129S	Likely pathogenic	1	1	22	14
MUT:FBN1:Cys1307Trp	PROT:P35555	FBN1	C	1307	W	C1307W	Likely pathogenic	1	1	22	33
MUT:FBN1:Cys1320Phe	PROT:P35555	FBN1	C	1320	F	C1320F	Likely pathogenic	1	1	22	20
MUT:FBN1:Cys1320Ser	PROT:P35555	FBN1	C	1320	S	C1320S	Pathogenic	1	2	22	20
MUT:FBN1:Cys1320Tyr	PROT:P35555	FBN1	C	1320	Y	C1320Y	Pathogenic/Likely pathogenic	1	1	22	20
MUT:FBN1:Cys1326Trp	PROT:P35555	FBN1	C	1326	W	C1326W	Likely pathogenic	1	1	22	14
MUT:FBN1:Cys1326Tyr	PROT:P35555	FBN1	C	1326	Y	C1326Y	Pathogenic/Likely pathogenic	1	1	22	14
MUT:FBN1:Cys1333Gly	PROT:P35555	FBN1	C	1333	G	C1333G	Likely pathogenic	1	1	22	7
MUT:FBN1:Cys1339Ser	PROT:P35555	FBN1	C	1339	S	C1339S	Pathogenic/Likely pathogenic	1	1	22	1
MUT:FBN1:Cys1339Tyr	PROT:P35555	FBN1	C	1339	Y	C1339Y	Pathogenic	1	1	22	1
MUT:FBN1:Cys1348Tyr	PROT:P35555	FBN1	C	1348	Y	C1348Y	Pathogenic/Likely pathogenic	1	2	22	3
MUT:FBN1:Cys134Arg	PROT:P35555	FBN1	C	134	R	C134R	Pathogenic	1	1	22	19
MUT:FBN1:Cys134Tyr	PROT:P35555	FBN1	C	134	Y	C134Y	Pathogenic/Likely pathogenic	1	2	22	19
MUT:FBN1:Cys1350Arg	PROT:P35555	FBN1	C	1350	R	C1350R	Pathogenic/Likely pathogenic	1	1	22	5
MUT:FBN1:Cys1350Gly	PROT:P35555	FBN1	C	1350	G	C1350G	Likely pathogenic	1	1	22	5
MUT:FBN1:Cys1350Phe	PROT:P35555	FBN1	C	1350	F	C1350F	Pathogenic	1	1	22	5
MUT:FBN1:Cys1350Ser	PROT:P35555	FBN1	C	1350	S	C1350S	Likely pathogenic	1	1	22	5
MUT:FBN1:Cys1350Tyr	PROT:P35555	FBN1	C	1350	Y	C1350Y	Pathogenic	1	1	22	5
MUT:FBN1:Cys1361Arg	PROT:P35555	FBN1	C	1361	R	C1361R	Likely pathogenic	1	2	22	16
MUT:FBN1:Cys1361Tyr	PROT:P35555	FBN1	C	1361	Y	C1361Y	Pathogenic	1	2	22	16
MUT:FBN1:Cys1367Arg	PROT:P35555	FBN1	C	1367	R	C1367R	Likely pathogenic	1	1	22	22
MUT:FBN1:Cys1367Tyr	PROT:P35555	FBN1	C	1367	Y	C1367Y	Pathogenic/Likely pathogenic	1	2	22	22
MUT:FBN1:Cys136Arg	PROT:P35555	FBN1	C	136	R	C136R	Likely pathogenic	1	1	22	21
MUT:FBN1:Cys136Gly	PROT:P35555	FBN1	C	136	G	C136G	Pathogenic	1	1	22	21
MUT:FBN1:Cys136Ser	PROT:P35555	FBN1	C	136	S	C136S	Likely pathogenic	1	1	22	21
MUT:FBN1:Cys136Trp	PROT:P35555	FBN1	C	136	W	C136W	Likely pathogenic	1	1	22	21
MUT:FBN1:Cys136Tyr	PROT:P35555	FBN1	C	136	Y	C136Y	Pathogenic/Likely pathogenic	1	1	22	21
MUT:FBN1:Cys1374Arg	PROT:P35555	FBN1	C	1374	R	C1374R	Pathogenic	1	1	22	29
MUT:FBN1:Cys1374Gly	PROT:P35555	FBN1	C	1374	G	C1374G	Pathogenic	1	1	22	29
MUT:FBN1:Cys1389Gly	PROT:P35555	FBN1	C	1389	G	C1389G	Likely pathogenic	1	1	22	44
MUT:FBN1:Cys1389Tyr	PROT:P35555	FBN1	C	1389	Y	C1389Y	Pathogenic/Likely pathogenic	1	1	22	44
MUT:FBN1:Cys1391Trp	PROT:P35555	FBN1	C	1391	W	C1391W	Likely pathogenic	1	1	22	46
MUT:FBN1:Cys1391Tyr	PROT:P35555	FBN1	C	1391	Y	C1391Y	Pathogenic/Likely pathogenic	1	3	22	46
MUT:FBN1:Cys1402Arg	PROT:P35555	FBN1	C	1402	R	C1402R	Likely pathogenic	1	1	22	57
MUT:FBN1:Cys1402Gly	PROT:P35555	FBN1	C	1402	G	C1402G	Pathogenic/Likely pathogenic	1	1	22	57
MUT:FBN1:Cys1402Ser	PROT:P35555	FBN1	C	1402	S	C1402S	Likely pathogenic	1	1	22	57
MUT:FBN1:Cys1402Trp	PROT:P35555	FBN1	C	1402	W	C1402W	Likely pathogenic	1	1	22	57
MUT:FBN1:Cys1402Tyr	PROT:P35555	FBN1	C	1402	Y	C1402Y	Pathogenic	1	1	22	57
MUT:FBN1:Cys1408Arg	PROT:P35555	FBN1	C	1408	R	C1408R	Pathogenic	1	2	22	63
MUT:FBN1:Cys1415Arg	PROT:P35555	FBN1	C	1415	R	C1415R	Likely pathogenic	1	3	22	70
MUT:FBN1:Cys1420Phe	PROT:P35555	FBN1	C	1420	F	C1420F	Pathogenic/Likely pathogenic	1	1	22	75
MUT:FBN1:Cys1420Tyr	PROT:P35555	FBN1	C	1420	Y	C1420Y	Pathogenic/Likely pathogenic	1	1	22	75
MUT:FBN1:Cys1429Ser	PROT:P35555	FBN1	C	1429	S	C1429S	Pathogenic	1	1	22	84
MUT:FBN1:Cys1429Trp	PROT:P35555	FBN1	C	1429	W	C1429W	Pathogenic	1	1	22	84
MUT:FBN1:Cys1429Tyr	PROT:P35555	FBN1	C	1429	Y	C1429Y	Pathogenic/Likely pathogenic	1	1	22	84
MUT:FBN1:Cys1431Arg	PROT:P35555	FBN1	C	1431	R	C1431R	Likely pathogenic	1	1	22	86
MUT:FBN1:Cys1431Trp	PROT:P35555	FBN1	C	1431	W	C1431W	Pathogenic/Likely pathogenic	1	1	22	86
MUT:FBN1:Cys1431Tyr	PROT:P35555	FBN1	C	1431	Y	C1431Y	Pathogenic	1	1	22	86
MUT:FBN1:Cys1444Arg	PROT:P35555	FBN1	C	1444	R	C1444R	Likely pathogenic	1	1	22	91
MUT:FBN1:Cys1444Phe	PROT:P35555	FBN1	C	1444	F	C1444F	Likely pathogenic	1	1	22	91
MUT:FBN1:Cys1444Ser	PROT:P35555	FBN1	C	1444	S	C1444S	Pathogenic	1	1	22	91
MUT:FBN1:Cys1444Tyr	PROT:P35555	FBN1	C	1444	Y	C1444Y	Pathogenic/Likely pathogenic	1	3	22	91
MUT:FBN1:Cys1450Arg	PROT:P35555	FBN1	C	1450	R	C1450R	Pathogenic/Likely pathogenic	1	1	22	85
MUT:FBN1:Cys1450Phe	PROT:P35555	FBN1	C	1450	F	C1450F	Pathogenic/Likely pathogenic	1	2	22	85
MUT:FBN1:Cys1450Ser	PROT:P35555	FBN1	C	1450	S	C1450S	Likely pathogenic	1	1	22	85
MUT:FBN1:Cys1450Tyr	PROT:P35555	FBN1	C	1450	Y	C1450Y	Pathogenic	1	1	22	85
MUT:FBN1:Cys1456Arg	PROT:P35555	FBN1	C	1456	R	C1456R	Likely pathogenic	1	1	22	79
MUT:FBN1:Cys1456Gly	PROT:P35555	FBN1	C	1456	G	C1456G	Likely pathogenic	1	1	22	79
MUT:FBN1:Cys1456Phe	PROT:P35555	FBN1	C	1456	F	C1456F	Likely pathogenic	1	1	22	79
MUT:FBN1:Cys1456Ser	PROT:P35555	FBN1	C	1456	S	C1456S	Pathogenic/Likely pathogenic	1	2	22	79
MUT:FBN1:Cys1456Tyr	PROT:P35555	FBN1	C	1456	Y	C1456Y	Likely pathogenic	1	2	22	79
MUT:FBN1:Cys145Arg	PROT:P35555	FBN1	C	145	R	C145R	Likely pathogenic	1	1	22	30
MUT:FBN1:Cys145Gly	PROT:P35555	FBN1	C	145	G	C145G	Likely pathogenic	1	1	22	30
MUT:FBN1:Cys145Tyr	PROT:P35555	FBN1	C	145	Y	C145Y	Pathogenic/Likely pathogenic	1	1	22	30
MUT:FBN1:Cys1470Tyr	PROT:P35555	FBN1	C	1470	Y	C1470Y	Pathogenic	1	2	22	65
MUT:FBN1:Cys1472Arg	PROT:P35555	FBN1	C	1472	R	C1472R	Pathogenic	1	1	22	63
MUT:FBN1:Cys1485Tyr	PROT:P35555	FBN1	C	1485	Y	C1485Y	Likely pathogenic	1	1	22	50
MUT:FBN1:Cys1491Phe	PROT:P35555	FBN1	C	1491	F	C1491F	Pathogenic/Likely pathogenic	1	1	22	44
MUT:FBN1:Cys1491Ser	PROT:P35555	FBN1	C	1491	S	C1491S	Pathogenic	1	1	22	44
MUT:FBN1:Cys1497Ser	PROT:P35555	FBN1	C	1497	S	C1497S	Pathogenic	1	1	22	38
MUT:FBN1:Cys1497Trp	PROT:P35555	FBN1	C	1497	W	C1497W	Likely pathogenic	1	1	22	38
MUT:FBN1:Cys1497Tyr	PROT:P35555	FBN1	C	1497	Y	C1497Y	Pathogenic/Likely pathogenic	1	1	22	38
MUT:FBN1:Cys1502Tyr	PROT:P35555	FBN1	C	1502	Y	C1502Y	Pathogenic/Likely pathogenic	1	2	22	33
MUT:FBN1:Cys150Arg	PROT:P35555	FBN1	C	150	R	C150R	Pathogenic/Likely pathogenic	1	1	22	35
MUT:FBN1:Cys1511Arg	PROT:P35555	FBN1	C	1511	R	C1511R	Pathogenic/Likely pathogenic	1	2	22	24
MUT:FBN1:Cys1511Gly	PROT:P35555	FBN1	C	1511	G	C1511G	Pathogenic	1	1	22	24
MUT:FBN1:Cys1511Tyr	PROT:P35555	FBN1	C	1511	Y	C1511Y	Pathogenic/Likely pathogenic	1	1	22	24
MUT:FBN1:Cys1513Gly	PROT:P35555	FBN1	C	1513	G	C1513G	Pathogenic/Likely pathogenic	1	1	22	22
MUT:FBN1:Cys1513Trp	PROT:P35555	FBN1	C	1513	W	C1513W	Pathogenic/Likely pathogenic	1	2	22	22
MUT:FBN1:Cys1513Tyr	PROT:P35555	FBN1	C	1513	Y	C1513Y	Likely pathogenic	1	1	22	22
MUT:FBN1:Cys1526Gly	PROT:P35555	FBN1	C	1526	G	C1526G	Likely pathogenic	1	1	22	9
MUT:FBN1:Cys1526Tyr	PROT:P35555	FBN1	C	1526	Y	C1526Y	Pathogenic/Likely pathogenic	1	1	22	9
MUT:FBN1:Cys1534Trp	PROT:P35555	FBN1	C	1534	W	C1534W	Likely pathogenic	1	1	22	1
MUT:FBN1:Cys154Arg	PROT:P35555	FBN1	C	154	R	C154R	Likely pathogenic	1	1	22	39
MUT:FBN1:Cys154Ser	PROT:P35555	FBN1	C	154	S	C154S	Pathogenic/Likely pathogenic	1	1	22	39
MUT:FBN1:Cys1562Arg	PROT:P35555	FBN1	C	1562	R	C1562R	Pathogenic/Likely pathogenic	1	2	22	27
MUT:FBN1:Cys1562Ser	PROT:P35555	FBN1	C	1562	S	C1562S	Likely pathogenic	1	1	22	27
MUT:FBN1:Cys1563Ser	PROT:P35555	FBN1	C	1563	S	C1563S	Likely pathogenic	1	1	22	28
MUT:FBN1:Cys1563Trp	PROT:P35555	FBN1	C	1563	W	C1563W	Pathogenic	1	1	22	28
MUT:FBN1:Cys1563Tyr	PROT:P35555	FBN1	C	1563	Y	C1563Y	Pathogenic/Likely pathogenic	1	1	22	28
MUT:FBN1:Cys1564Ser	PROT:P35555	FBN1	C	1564	S	C1564S	Pathogenic	1	1	22	29
MUT:FBN1:Cys1564Tyr	PROT:P35555	FBN1	C	1564	Y	C1564Y	Pathogenic/Likely pathogenic	1	1	22	29
MUT:FBN1:Cys1577Gly	PROT:P35555	FBN1	C	1577	G	C1577G	Pathogenic	1	1	22	42
MUT:FBN1:Cys1589Phe	PROT:P35555	FBN1	C	1589	F	C1589F	Pathogenic/Likely pathogenic	1	1	22	54
MUT:FBN1:Cys160Arg	PROT:P35555	FBN1	C	160	R	C160R	Pathogenic/Likely pathogenic	1	2	22	45
MUT:FBN1:Cys160Tyr	PROT:P35555	FBN1	C	160	Y	C160Y	Pathogenic/Likely pathogenic	1	2	22	45
MUT:FBN1:Cys1622Arg	PROT:P35555	FBN1	C	1622	R	C1622R	Pathogenic/Likely pathogenic	1	2	22	87
MUT:FBN1:Cys1631Ser	PROT:P35555	FBN1	C	1631	S	C1631S	Likely pathogenic	1	2	22	96
MUT:FBN1:Cys1633Tyr	PROT:P35555	FBN1	C	1633	Y	C1633Y	Likely pathogenic	1	2	22	98
MUT:FBN1:Cys1646Phe	PROT:P35555	FBN1	C	1646	F	C1646F	Likely pathogenic	1	1	22	111
MUT:FBN1:Cys1646Ser	PROT:P35555	FBN1	C	1646	S	C1646S	Pathogenic/Likely pathogenic	1	1	22	111
MUT:FBN1:Cys1646Tyr	PROT:P35555	FBN1	C	1646	Y	C1646Y	Pathogenic/Likely pathogenic	1	1	22	111
MUT:FBN1:Cys1652Ser	PROT:P35555	FBN1	C	1652	S	C1652S	Pathogenic	1	1	22	117
MUT:FBN1:Cys1652Tyr	PROT:P35555	FBN1	C	1652	Y	C1652Y	Pathogenic/Likely pathogenic	1	1	22	117
MUT:FBN1:Cys1663Arg	PROT:P35555	FBN1	C	1663	R	C1663R	Pathogenic	1	1	22	128
MUT:FBN1:Cys1663Phe	PROT:P35555	FBN1	C	1663	F	C1663F	Pathogenic	1	1	22	128
MUT:FBN1:Cys1663Ser	PROT:P35555	FBN1	C	1663	S	C1663S	Likely pathogenic	1	1	22	128
MUT:FBN1:Cys1663Tyr	PROT:P35555	FBN1	C	1663	Y	C1663Y	Likely pathogenic	1	1	22	128
MUT:FBN1:Cys166Arg	PROT:P35555	FBN1	C	166	R	C166R	Pathogenic/Likely pathogenic	1	2	22	51
MUT:FBN1:Cys166Ser	PROT:P35555	FBN1	C	166	S	C166S	Likely pathogenic	1	2	22	51
MUT:FBN1:Cys166Tyr	PROT:P35555	FBN1	C	166	Y	C166Y	Pathogenic/Likely pathogenic	1	2	22	51
MUT:FBN1:Cys1672Arg	PROT:P35555	FBN1	C	1672	R	C1672R	Pathogenic	1	2	22	137
MUT:FBN1:Cys1672Gly	PROT:P35555	FBN1	C	1672	G	C1672G	Pathogenic/Likely pathogenic	1	1	22	137
MUT:FBN1:Cys1672Ser	PROT:P35555	FBN1	C	1672	S	C1672S	Pathogenic	1	2	22	137
MUT:FBN1:Cys1672Tyr	PROT:P35555	FBN1	C	1672	Y	C1672Y	Pathogenic/Likely pathogenic	1	1	22	137
MUT:FBN1:Cys1674Arg	PROT:P35555	FBN1	C	1674	R	C1674R	Likely pathogenic	1	1	22	139
MUT:FBN1:Cys1674Ser	PROT:P35555	FBN1	C	1674	S	C1674S	Likely pathogenic	1	1	22	139
MUT:FBN1:Cys1674Tyr	PROT:P35555	FBN1	C	1674	Y	C1674Y	Pathogenic	1	1	22	139
MUT:FBN1:Cys1687Phe	PROT:P35555	FBN1	C	1687	F	C1687F	Pathogenic/Likely pathogenic	1	1	22	152
MUT:FBN1:Cys168Arg	PROT:P35555	FBN1	C	168	R	C168R	Pathogenic/Likely pathogenic	1	1	22	53
MUT:FBN1:Cys168Gly	PROT:P35555	FBN1	C	168	G	C168G	Likely pathogenic	1	1	22	53
MUT:FBN1:Cys168Phe	PROT:P35555	FBN1	C	168	F	C168F	Pathogenic/Likely pathogenic	1	1	22	53
MUT:FBN1:Cys168Trp	PROT:P35555	FBN1	C	168	W	C168W	Pathogenic	1	1	22	53
MUT:FBN1:Cys1695Gly	PROT:P35555	FBN1	C	1695	G	C1695G	Likely pathogenic	1	1	22	160
MUT:FBN1:Cys1695Trp	PROT:P35555	FBN1	C	1695	W	C1695W	Likely pathogenic	1	1	22	160
MUT:FBN1:Cys1719Tyr	PROT:P35555	FBN1	C	1719	Y	C1719Y	Pathogenic	1	2	22	184
MUT:FBN1:Cys1748Phe	PROT:P35555	FBN1	C	1748	F	C1748F	Pathogenic	1	1	22	213
MUT:FBN1:Cys1748Ser	PROT:P35555	FBN1	C	1748	S	C1748S	Likely pathogenic	1	1	22	213
MUT:FBN1:Cys1770Tyr	PROT:P35555	FBN1	C	1770	Y	C1770Y	Pathogenic/Likely pathogenic	1	1	22	235
MUT:FBN1:Cys1777Arg	PROT:P35555	FBN1	C	1777	R	C1777R	Likely pathogenic	1	1	22	242
MUT:FBN1:Cys1777Tyr	PROT:P35555	FBN1	C	1777	Y	C1777Y	Likely pathogenic	1	1	22	242
MUT:FBN1:Cys177Arg	PROT:P35555	FBN1	C	177	R	C177R	Likely pathogenic	1	1	22	62
MUT:FBN1:Cys177Tyr	PROT:P35555	FBN1	C	177	Y	C177Y	Pathogenic/Likely pathogenic	1	2	22	62
MUT:FBN1:Cys1782Gly	PROT:P35555	FBN1	C	1782	G	C1782G	Pathogenic	1	1	22	247
MUT:FBN1:Cys1782Tyr	PROT:P35555	FBN1	C	1782	Y	C1782Y	Pathogenic/Likely pathogenic	1	2	22	247
MUT:FBN1:Cys1791Arg	PROT:P35555	FBN1	C	1791	R	C1791R	Pathogenic/Likely pathogenic	1	2	22	256
MUT:FBN1:Cys1791Gly	PROT:P35555	FBN1	C	1791	G	C1791G	Pathogenic	1	1	22	256
MUT:FBN1:Cys1791Ser	PROT:P35555	FBN1	C	1791	S	C1791S	Likely pathogenic	1	1	22	256
MUT:FBN1:Cys1791Trp	PROT:P35555	FBN1	C	1791	W	C1791W	Pathogenic	1	1	22	256
MUT:FBN1:Cys1791Tyr	PROT:P35555	FBN1	C	1791	Y	C1791Y	Pathogenic/Likely pathogenic	1	2	22	256
MUT:FBN1:Cys1793Ser	PROT:P35555	FBN1	C	1793	S	C1793S	Pathogenic	1	1	22	258
MUT:FBN1:Cys1793Tyr	PROT:P35555	FBN1	C	1793	Y	C1793Y	Pathogenic	1	1	22	258
MUT:FBN1:Cys1806Arg	PROT:P35555	FBN1	C	1806	R	C1806R	Pathogenic/Likely pathogenic	1	1	22	271
MUT:FBN1:Cys1806Gly	PROT:P35555	FBN1	C	1806	G	C1806G	Likely pathogenic	1	1	22	271
MUT:FBN1:Cys1806Phe	PROT:P35555	FBN1	C	1806	F	C1806F	Pathogenic/Likely pathogenic	1	3	22	271
MUT:FBN1:Cys1806Ser	PROT:P35555	FBN1	C	1806	S	C1806S	Likely pathogenic	1	1	22	271
MUT:FBN1:Cys1806Trp	PROT:P35555	FBN1	C	1806	W	C1806W	Pathogenic/Likely pathogenic	1	1	22	271
MUT:FBN1:Cys1812Arg	PROT:P35555	FBN1	C	1812	R	C1812R	Pathogenic	1	1	22	277
MUT:FBN1:Cys1812Tyr	PROT:P35555	FBN1	C	1812	Y	C1812Y	Likely pathogenic	1	1	22	277
MUT:FBN1:Cys1818Arg	PROT:P35555	FBN1	C	1818	R	C1818R	Likely pathogenic	1	2	22	283
MUT:FBN1:Cys1818Tyr	PROT:P35555	FBN1	C	1818	Y	C1818Y	Pathogenic/Likely pathogenic	1	1	22	283
MUT:FBN1:Cys1824Phe	PROT:P35555	FBN1	C	1824	F	C1824F	Pathogenic	1	1	22	289
MUT:FBN1:Cys1833Tyr	PROT:P35555	FBN1	C	1833	Y	C1833Y	Pathogenic	1	1	22	298
MUT:FBN1:Cys1835Arg	PROT:P35555	FBN1	C	1835	R	C1835R	Pathogenic	1	1	22	300
MUT:FBN1:Cys1835Phe	PROT:P35555	FBN1	C	1835	F	C1835F	Likely pathogenic	1	1	22	300
MUT:FBN1:Cys1835Ser	PROT:P35555	FBN1	C	1835	S	C1835S	Pathogenic	1	1	22	300
MUT:FBN1:Cys1835Tyr	PROT:P35555	FBN1	C	1835	Y	C1835Y	Pathogenic/Likely pathogenic	1	2	22	300
MUT:FBN1:Cys1847Arg	PROT:P35555	FBN1	C	1847	R	C1847R	Likely pathogenic	1	1	22	312
MUT:FBN1:Cys1847Ser	PROT:P35555	FBN1	C	1847	S	C1847S	Likely pathogenic	1	1	22	312
MUT:FBN1:Cys1847Tyr	PROT:P35555	FBN1	C	1847	Y	C1847Y	Pathogenic/Likely pathogenic	1	1	22	312
MUT:FBN1:Cys1853Arg	PROT:P35555	FBN1	C	1853	R	C1853R	Pathogenic/Likely pathogenic	1	1	22	318
MUT:FBN1:Cys1853Ser	PROT:P35555	FBN1	C	1853	S	C1853S	Pathogenic	1	1	22	318
MUT:FBN1:Cys1853Tyr	PROT:P35555	FBN1	C	1853	Y	C1853Y	Pathogenic	1	2	22	318
MUT:FBN1:Cys1865Arg	PROT:P35555	FBN1	C	1865	R	C1865R	Pathogenic	1	1	22	330
MUT:FBN1:Cys1865Gly	PROT:P35555	FBN1	C	1865	G	C1865G	Likely pathogenic	1	1	22	330
MUT:FBN1:Cys186Arg	PROT:P35555	FBN1	C	186	R	C186R	Likely pathogenic	1	1	22	71
MUT:FBN1:Cys186Tyr	PROT:P35555	FBN1	C	186	Y	C186Y	Pathogenic/Likely pathogenic	1	1	22	71
MUT:FBN1:Cys1874Arg	PROT:P35555	FBN1	C	1874	R	C1874R	Pathogenic	1	1	22	339
MUT:FBN1:Cys1874Phe	PROT:P35555	FBN1	C	1874	F	C1874F	Likely pathogenic	1	1	22	339
MUT:FBN1:Cys1876Arg	PROT:P35555	FBN1	C	1876	R	C1876R	Pathogenic/Likely pathogenic	1	2	22	341
MUT:FBN1:Cys1876Ser	PROT:P35555	FBN1	C	1876	S	C1876S	Pathogenic	1	1	22	341
MUT:FBN1:Cys1895Arg	PROT:P35555	FBN1	C	1895	R	C1895R	Pathogenic/Likely pathogenic	1	2	22	329
MUT:FBN1:Cys1900Phe	PROT:P35555	FBN1	C	1900	F	C1900F	Likely pathogenic	1	1	22	324
MUT:FBN1:Cys1900Ser	PROT:P35555	FBN1	C	1900	S	C1900S	Likely pathogenic	1	1	22	324
MUT:FBN1:Cys1900Trp	PROT:P35555	FBN1	C	1900	W	C1900W	Likely pathogenic	1	1	22	324
MUT:FBN1:Cys1900Tyr	PROT:P35555	FBN1	C	1900	Y	C1900Y	Pathogenic	1	1	22	324
MUT:FBN1:Cys1905Phe	PROT:P35555	FBN1	C	1905	F	C1905F	Pathogenic/Likely pathogenic	1	1	22	319
MUT:FBN1:Cys1905Ser	PROT:P35555	FBN1	C	1905	S	C1905S	Pathogenic/Likely pathogenic	1	2	22	319
MUT:FBN1:Cys1914Tyr	PROT:P35555	FBN1	C	1914	Y	C1914Y	Likely pathogenic	1	2	22	310
MUT:FBN1:Cys1916Tyr	PROT:P35555	FBN1	C	1916	Y	C1916Y	Likely pathogenic	1	1	22	308
MUT:FBN1:Cys1928Arg	PROT:P35555	FBN1	C	1928	R	C1928R	Pathogenic/Likely pathogenic	1	1	22	296
MUT:FBN1:Cys1928Tyr	PROT:P35555	FBN1	C	1928	Y	C1928Y	Pathogenic/Likely pathogenic	1	2	22	296
MUT:FBN1:Cys1934Arg	PROT:P35555	FBN1	C	1934	R	C1934R	Pathogenic/Likely pathogenic	1	1	22	290
MUT:FBN1:Cys1934Ser	PROT:P35555	FBN1	C	1934	S	C1934S	Pathogenic	1	1	22	290
MUT:FBN1:Cys1942Arg	PROT:P35555	FBN1	C	1942	R	C1942R	Pathogenic/Likely pathogenic	1	1	22	282
MUT:FBN1:Cys1942Ser	PROT:P35555	FBN1	C	1942	S	C1942S	Pathogenic	1	1	22	282
MUT:FBN1:Cys1947Arg	PROT:P35555	FBN1	C	1947	R	C1947R	Pathogenic/Likely pathogenic	1	1	22	277
MUT:FBN1:Cys1947Phe	PROT:P35555	FBN1	C	1947	F	C1947F	Likely pathogenic	1	1	22	277
MUT:FBN1:Cys1947Tyr	PROT:P35555	FBN1	C	1947	Y	C1947Y	Pathogenic/Likely pathogenic	1	1	22	277
MUT:FBN1:Cys1971Arg	PROT:P35555	FBN1	C	1971	R	C1971R	Pathogenic/Likely pathogenic	1	2	22	253
MUT:FBN1:Cys1971Gly	PROT:P35555	FBN1	C	1971	G	C1971G	Likely pathogenic	1	1	22	253
MUT:FBN1:Cys1971Phe	PROT:P35555	FBN1	C	1971	F	C1971F	Pathogenic/Likely pathogenic	1	1	22	253
MUT:FBN1:Cys1971Tyr	PROT:P35555	FBN1	C	1971	Y	C1971Y	Likely pathogenic	1	2	22	253
MUT:FBN1:Cys1977Tyr	PROT:P35555	FBN1	C	1977	Y	C1977Y	Pathogenic/Likely pathogenic	1	2	22	247
MUT:FBN1:Cys1984Arg	PROT:P35555	FBN1	C	1984	R	C1984R	Pathogenic/Likely pathogenic	1	1	22	240
MUT:FBN1:Cys1984Tyr	PROT:P35555	FBN1	C	1984	Y	C1984Y	Pathogenic/Likely pathogenic	1	3	22	240
MUT:FBN1:Cys1989Phe	PROT:P35555	FBN1	C	1989	F	C1989F	Pathogenic	1	2	22	235
MUT:FBN1:Cys1989Ser	PROT:P35555	FBN1	C	1989	S	C1989S	Likely pathogenic	1	1	22	235
MUT:FBN1:Cys1989Trp	PROT:P35555	FBN1	C	1989	W	C1989W	Pathogenic/Likely pathogenic	1	1	22	235
MUT:FBN1:Cys1998Phe	PROT:P35555	FBN1	C	1998	F	C1998F	Likely pathogenic	1	1	22	226
MUT:FBN1:Cys1998Ser	PROT:P35555	FBN1	C	1998	S	C1998S	Pathogenic	1	1	22	226
MUT:FBN1:Cys1998Trp	PROT:P35555	FBN1	C	1998	W	C1998W	Pathogenic	1	1	22	226
MUT:FBN1:Cys2000Phe	PROT:P35555	FBN1	C	2000	F	C2000F	Likely pathogenic	1	1	22	224
MUT:FBN1:Cys2000Tyr	PROT:P35555	FBN1	C	2000	Y	C2000Y	Pathogenic/Likely pathogenic	1	2	22	224
MUT:FBN1:Cys2011Arg	PROT:P35555	FBN1	C	2011	R	C2011R	Pathogenic/Likely pathogenic	1	1	22	213
MUT:FBN1:Cys2011Trp	PROT:P35555	FBN1	C	2011	W	C2011W	Likely pathogenic	1	1	22	213
MUT:FBN1:Cys2011Tyr	PROT:P35555	FBN1	C	2011	Y	C2011Y	Likely pathogenic	1	2	22	213
MUT:FBN1:Cys2017Arg	PROT:P35555	FBN1	C	2017	R	C2017R	Pathogenic/Likely pathogenic	1	1	22	207
MUT:FBN1:Cys2017Gly	PROT:P35555	FBN1	C	2017	G	C2017G	Likely pathogenic	1	1	22	207
MUT:FBN1:Cys2017Trp	PROT:P35555	FBN1	C	2017	W	C2017W	Pathogenic	1	2	22	207
MUT:FBN1:Cys2017Tyr	PROT:P35555	FBN1	C	2017	Y	C2017Y	Pathogenic/Likely pathogenic	1	1	22	207
MUT:FBN1:Cys2029Trp	PROT:P35555	FBN1	C	2029	W	C2029W	Likely pathogenic	1	1	22	195
MUT:FBN1:Cys2029Tyr	PROT:P35555	FBN1	C	2029	Y	C2029Y	Likely pathogenic	1	1	22	195
MUT:FBN1:Cys2038Phe	PROT:P35555	FBN1	C	2038	F	C2038F	Pathogenic	1	1	22	186
MUT:FBN1:Cys2038Ser	PROT:P35555	FBN1	C	2038	S	C2038S	Likely pathogenic	1	1	22	186
MUT:FBN1:Cys2038Trp	PROT:P35555	FBN1	C	2038	W	C2038W	Likely pathogenic	1	1	22	186
MUT:FBN1:Cys2038Tyr	PROT:P35555	FBN1	C	2038	Y	C2038Y	Pathogenic	1	2	22	186
MUT:FBN1:Cys2040Arg	PROT:P35555	FBN1	C	2040	R	C2040R	Likely pathogenic	1	1	22	184
MUT:FBN1:Cys2040Phe	PROT:P35555	FBN1	C	2040	F	C2040F	Likely pathogenic	1	1	22	184
MUT:FBN1:Cys2040Trp	PROT:P35555	FBN1	C	2040	W	C2040W	Pathogenic	1	1	22	184
MUT:FBN1:Cys2040Tyr	PROT:P35555	FBN1	C	2040	Y	C2040Y	Pathogenic/Likely pathogenic	1	1	22	184
MUT:FBN1:Cys2061Arg	PROT:P35555	FBN1	C	2061	R	C2061R	Pathogenic/Likely pathogenic	1	2	22	163
MUT:FBN1:Cys2061Tyr	PROT:P35555	FBN1	C	2061	Y	C2061Y	Pathogenic/Likely pathogenic	1	1	22	163
MUT:FBN1:Cys2070Tyr	PROT:P35555	FBN1	C	2070	Y	C2070Y	Likely pathogenic	1	1	22	154
MUT:FBN1:Cys2083Arg	PROT:P35555	FBN1	C	2083	R	C2083R	Likely pathogenic	1	1	22	141
MUT:FBN1:Cys2084Tyr	PROT:P35555	FBN1	C	2084	Y	C2084Y	Likely pathogenic	1	1	22	140
MUT:FBN1:Cys2085Ser	PROT:P35555	FBN1	C	2085	S	C2085S	Likely pathogenic	1	1	22	139
MUT:FBN1:Cys2085Tyr	PROT:P35555	FBN1	C	2085	Y	C2085Y	Likely pathogenic	1	1	22	139
MUT:FBN1:Cys2099Tyr	PROT:P35555	FBN1	C	2099	Y	C2099Y	Pathogenic/Likely pathogenic	1	1	22	125
MUT:FBN1:Cys209Phe	PROT:P35555	FBN1	C	209	F	C209F	Pathogenic/Likely pathogenic	1	1	22	94
MUT:FBN1:Cys209Ser	PROT:P35555	FBN1	C	209	S	C209S	Pathogenic	1	1	22	94
MUT:FBN1:Cys209Tyr	PROT:P35555	FBN1	C	209	Y	C209Y	Likely pathogenic	1	1	22	94
MUT:FBN1:Cys210Tyr	PROT:P35555	FBN1	C	210	Y	C210Y	Likely pathogenic	1	1	22	95
MUT:FBN1:Cys2111Arg	PROT:P35555	FBN1	C	2111	R	C2111R	Pathogenic/Likely pathogenic	1	3	22	113
MUT:FBN1:Cys2111Gly	PROT:P35555	FBN1	C	2111	G	C2111G	Pathogenic/Likely pathogenic	1	1	22	113
MUT:FBN1:Cys2111Phe	PROT:P35555	FBN1	C	2111	F	C2111F	Pathogenic	1	1	22	113
MUT:FBN1:Cys2111Tyr	PROT:P35555	FBN1	C	2111	Y	C2111Y	Pathogenic/Likely pathogenic	1	1	22	113
MUT:FBN1:Cys2131Arg	PROT:P35555	FBN1	C	2131	R	C2131R	Pathogenic	1	1	22	93
MUT:FBN1:Cys2131Trp	PROT:P35555	FBN1	C	2131	W	C2131W	Pathogenic/Likely pathogenic	1	1	22	93
MUT:FBN1:Cys2137Gly	PROT:P35555	FBN1	C	2137	G	C2137G	Pathogenic	1	1	22	87
MUT:FBN1:Cys2137Ser	PROT:P35555	FBN1	C	2137	S	C2137S	Pathogenic	1	1	22	87
MUT:FBN1:Cys2137Tyr	PROT:P35555	FBN1	C	2137	Y	C2137Y	Pathogenic	1	1	22	87
MUT:FBN1:Cys2142Ser	PROT:P35555	FBN1	C	2142	S	C2142S	Likely pathogenic	1	1	22	82
MUT:FBN1:Cys2142Tyr	PROT:P35555	FBN1	C	2142	Y	C2142Y	Pathogenic/Likely pathogenic	1	2	22	82
MUT:FBN1:Cys2153Arg	PROT:P35555	FBN1	C	2153	R	C2153R	Likely pathogenic	1	1	22	71
MUT:FBN1:Cys2153Tyr	PROT:P35555	FBN1	C	2153	Y	C2153Y	Likely pathogenic	1	2	22	71
MUT:FBN1:Cys2164Arg	PROT:P35555	FBN1	C	2164	R	C2164R	Pathogenic	1	1	22	60
MUT:FBN1:Cys2164Gly	PROT:P35555	FBN1	C	2164	G	C2164G	Likely pathogenic	1	1	22	60
MUT:FBN1:Cys2164Tyr	PROT:P35555	FBN1	C	2164	Y	C2164Y	Pathogenic	1	1	22	60
MUT:FBN1:Cys2170Arg	PROT:P35555	FBN1	C	2170	R	C2170R	Pathogenic/Likely pathogenic	1	1	22	54
MUT:FBN1:Cys2170Tyr	PROT:P35555	FBN1	C	2170	Y	C2170Y	Pathogenic/Likely pathogenic	1	1	22	54
MUT:FBN1:Cys2176Tyr	PROT:P35555	FBN1	C	2176	Y	C2176Y	Likely pathogenic	1	1	22	48
MUT:FBN1:Cys2181Arg	PROT:P35555	FBN1	C	2181	R	C2181R	Likely pathogenic	1	1	22	43
MUT:FBN1:Cys2190Phe	PROT:P35555	FBN1	C	2190	F	C2190F	Likely pathogenic	1	1	22	34
MUT:FBN1:Cys2192Trp	PROT:P35555	FBN1	C	2192	W	C2192W	Pathogenic	1	1	22	32
MUT:FBN1:Cys2204Arg	PROT:P35555	FBN1	C	2204	R	C2204R	Pathogenic/Likely pathogenic	1	1	22	20
MUT:FBN1:Cys2204Phe	PROT:P35555	FBN1	C	2204	F	C2204F	Pathogenic	1	1	22	20
MUT:FBN1:Cys2204Tyr	PROT:P35555	FBN1	C	2204	Y	C2204Y	Pathogenic/Likely pathogenic	1	1	22	20
MUT:FBN1:Cys2210Arg	PROT:P35555	FBN1	C	2210	R	C2210R	Pathogenic/Likely pathogenic	1	1	22	14
MUT:FBN1:Cys2210Ser	PROT:P35555	FBN1	C	2210	S	C2210S	Likely pathogenic	1	1	22	14
MUT:FBN1:Cys2210Trp	PROT:P35555	FBN1	C	2210	W	C2210W	Likely pathogenic	1	1	22	14
MUT:FBN1:Cys2210Tyr	PROT:P35555	FBN1	C	2210	Y	C2210Y	Pathogenic/Likely pathogenic	1	3	22	14
MUT:FBN1:Cys2221Arg	PROT:P35555	FBN1	C	2221	R	C2221R	Pathogenic	1	1	22	3
MUT:FBN1:Cys2221Phe	PROT:P35555	FBN1	C	2221	F	C2221F	Likely pathogenic	1	1	22	3
MUT:FBN1:Cys2221Ser	PROT:P35555	FBN1	C	2221	S	C2221S	Pathogenic	1	1	22	3
MUT:FBN1:Cys2221Tyr	PROT:P35555	FBN1	C	2221	Y	C2221Y	Pathogenic	1	1	22	3
MUT:FBN1:Cys2230Arg	PROT:P35555	FBN1	C	2230	R	C2230R	Pathogenic/Likely pathogenic	1	1	22	6
MUT:FBN1:Cys2230Tyr	PROT:P35555	FBN1	C	2230	Y	C2230Y	Pathogenic/Likely pathogenic	1	2	22	6
MUT:FBN1:Cys2232Arg	PROT:P35555	FBN1	C	2232	R	C2232R	Pathogenic	1	1	22	8
MUT:FBN1:Cys2232Ser	PROT:P35555	FBN1	C	2232	S	C2232S	Pathogenic/Likely pathogenic	1	1	22	8
MUT:FBN1:Cys2232Tyr	PROT:P35555	FBN1	C	2232	Y	C2232Y	Pathogenic/Likely pathogenic	1	1	22	8
MUT:FBN1:Cys2245Arg	PROT:P35555	FBN1	C	2245	R	C2245R	Pathogenic	1	1	22	21
MUT:FBN1:Cys224Arg	PROT:P35555	FBN1	C	224	R	C224R	Likely pathogenic	1	1	22	109
MUT:FBN1:Cys224Phe	PROT:P35555	FBN1	C	224	F	C224F	Likely pathogenic	1	1	22	109
MUT:FBN1:Cys224Tyr	PROT:P35555	FBN1	C	224	Y	C224Y	Pathogenic/Likely pathogenic	1	1	22	109
MUT:FBN1:Cys2251Arg	PROT:P35555	FBN1	C	2251	R	C2251R	Pathogenic/Likely pathogenic	1	2	22	27
MUT:FBN1:Cys2251Ser	PROT:P35555	FBN1	C	2251	S	C2251S	Pathogenic/Likely pathogenic	1	1	22	27
MUT:FBN1:Cys2258Arg	PROT:P35555	FBN1	C	2258	R	C2258R	Pathogenic/Likely pathogenic	1	1	22	34
MUT:FBN1:Cys2258Gly	PROT:P35555	FBN1	C	2258	G	C2258G	Pathogenic/Likely pathogenic	1	2	22	34
MUT:FBN1:Cys2258Tyr	PROT:P35555	FBN1	C	2258	Y	C2258Y	Likely pathogenic	1	2	22	34
MUT:FBN1:Cys2274Arg	PROT:P35555	FBN1	C	2274	R	C2274R	Likely pathogenic	1	1	22	50
MUT:FBN1:Cys2274Ser	PROT:P35555	FBN1	C	2274	S	C2274S	Likely pathogenic	1	1	22	50
MUT:FBN1:Cys2274Trp	PROT:P35555	FBN1	C	2274	W	C2274W	Likely pathogenic	1	1	22	50
MUT:FBN1:Cys2276Trp	PROT:P35555	FBN1	C	2276	W	C2276W	Likely pathogenic	1	1	22	52
MUT:FBN1:Cys2276Tyr	PROT:P35555	FBN1	C	2276	Y	C2276Y	Pathogenic	1	1	22	52
MUT:FBN1:Cys2289Phe	PROT:P35555	FBN1	C	2289	F	C2289F	Likely pathogenic	1	1	22	65
MUT:FBN1:Cys2289Ser	PROT:P35555	FBN1	C	2289	S	C2289S	Likely pathogenic	1	1	22	65
MUT:FBN1:Cys2295Gly	PROT:P35555	FBN1	C	2295	G	C2295G	Likely pathogenic	1	1	22	71
MUT:FBN1:Cys2295Ser	PROT:P35555	FBN1	C	2295	S	C2295S	Likely pathogenic	1	1	22	71
MUT:FBN1:Cys2295Trp	PROT:P35555	FBN1	C	2295	W	C2295W	Likely pathogenic	1	1	22	71
MUT:FBN1:Cys2295Tyr	PROT:P35555	FBN1	C	2295	Y	C2295Y	Pathogenic/Likely pathogenic	1	2	22	71
MUT:FBN1:Cys2302Ser	PROT:P35555	FBN1	C	2302	S	C2302S	Pathogenic/Likely pathogenic	1	1	22	78
MUT:FBN1:Cys2307Ser	PROT:P35555	FBN1	C	2307	S	C2307S	Pathogenic	1	2	22	80
MUT:FBN1:Cys2307Tyr	PROT:P35555	FBN1	C	2307	Y	C2307Y	Likely pathogenic	1	1	22	80
MUT:FBN1:Cys2316Phe	PROT:P35555	FBN1	C	2316	F	C2316F	Pathogenic	1	1	22	71
MUT:FBN1:Cys2316Tyr	PROT:P35555	FBN1	C	2316	Y	C2316Y	Pathogenic	1	2	22	71
MUT:FBN1:Cys2318Arg	PROT:P35555	FBN1	C	2318	R	C2318R	Pathogenic	1	1	22	69
MUT:FBN1:Cys2318Ser	PROT:P35555	FBN1	C	2318	S	C2318S	Pathogenic/Likely pathogenic	1	1	22	69
MUT:FBN1:Cys2318Tyr	PROT:P35555	FBN1	C	2318	Y	C2318Y	Pathogenic	1	1	22	69
MUT:FBN1:Cys2331Ser	PROT:P35555	FBN1	C	2331	S	C2331S	Likely pathogenic	1	1	22	56
MUT:FBN1:Cys2339Arg	PROT:P35555	FBN1	C	2339	R	C2339R	Pathogenic/Likely pathogenic	1	2	22	48
MUT:FBN1:Cys2339Gly	PROT:P35555	FBN1	C	2339	G	C2339G	Pathogenic	1	1	22	48
MUT:FBN1:Cys2339Tyr	PROT:P35555	FBN1	C	2339	Y	C2339Y	Likely pathogenic	1	1	22	48
MUT:FBN1:Cys2348Tyr	PROT:P35555	FBN1	C	2348	Y	C2348Y	Likely pathogenic	1	1	22	39
MUT:FBN1:Cys2363Gly	PROT:P35555	FBN1	C	2363	G	C2363G	Likely pathogenic	1	1	22	24
MUT:FBN1:Cys2363Ser	PROT:P35555	FBN1	C	2363	S	C2363S	Likely pathogenic	1	1	22	24
MUT:FBN1:Cys2365Tyr	PROT:P35555	FBN1	C	2365	Y	C2365Y	Likely pathogenic	1	1	22	22
MUT:FBN1:Cys2390Arg	PROT:P35555	FBN1	C	2390	R	C2390R	Pathogenic/Likely pathogenic	1	2	22	2
MUT:FBN1:Cys2390Ser	PROT:P35555	FBN1	C	2390	S	C2390S	Pathogenic/Likely pathogenic	1	1	22	2
MUT:FBN1:Cys2390Tyr	PROT:P35555	FBN1	C	2390	Y	C2390Y	Pathogenic/Likely pathogenic	1	1	22	2
MUT:FBN1:Cys2406Ser	PROT:P35555	FBN1	C	2406	S	C2406S	Likely pathogenic	1	1	22	18
MUT:FBN1:Cys2406Tyr	PROT:P35555	FBN1	C	2406	Y	C2406Y	Pathogenic/Likely pathogenic	1	1	22	18
MUT:FBN1:Cys2413Ser	PROT:P35555	FBN1	C	2413	S	C2413S	Likely pathogenic	1	1	22	25
MUT:FBN1:Cys2418Arg	PROT:P35555	FBN1	C	2418	R	C2418R	Pathogenic	1	1	22	30
MUT:FBN1:Cys2418Ser	PROT:P35555	FBN1	C	2418	S	C2418S	Likely pathogenic	1	1	22	30
MUT:FBN1:Cys2418Tyr	PROT:P35555	FBN1	C	2418	Y	C2418Y	Pathogenic/Likely pathogenic	1	2	22	30
MUT:FBN1:Cys2427Gly	PROT:P35555	FBN1	C	2427	G	C2427G	Likely pathogenic	1	1	22	39
MUT:FBN1:Cys2429Phe	PROT:P35555	FBN1	C	2429	F	C2429F	Pathogenic	1	1	22	41
MUT:FBN1:Cys2429Tyr	PROT:P35555	FBN1	C	2429	Y	C2429Y	Likely pathogenic	1	1	22	41
MUT:FBN1:Cys2442Ser	PROT:P35555	FBN1	C	2442	S	C2442S	Pathogenic/Likely pathogenic	1	2	22	54
MUT:FBN1:Cys2442Tyr	PROT:P35555	FBN1	C	2442	Y	C2442Y	Pathogenic/Likely pathogenic	1	2	22	54
MUT:FBN1:Cys2448Tyr	PROT:P35555	FBN1	C	2448	Y	C2448Y	Pathogenic	1	1	22	60
MUT:FBN1:Cys2455Arg	PROT:P35555	FBN1	C	2455	R	C2455R	Likely pathogenic	1	1	22	67
MUT:FBN1:Cys2468Arg	PROT:P35555	FBN1	C	2468	R	C2468R	Pathogenic/Likely pathogenic	1	2	22	80
MUT:FBN1:Cys2468Tyr	PROT:P35555	FBN1	C	2468	Y	C2468Y	Pathogenic/Likely pathogenic	1	1	22	80
MUT:FBN1:Cys2470Arg	PROT:P35555	FBN1	C	2470	R	C2470R	Likely pathogenic	1	2	22	82
MUT:FBN1:Cys2470Phe	PROT:P35555	FBN1	C	2470	F	C2470F	Likely pathogenic	1	2	22	82
MUT:FBN1:Cys2470Trp	PROT:P35555	FBN1	C	2470	W	C2470W	Pathogenic/Likely pathogenic	1	2	22	82
MUT:FBN1:Cys2470Tyr	PROT:P35555	FBN1	C	2470	Y	C2470Y	Pathogenic	1	1	22	82
MUT:FBN1:Cys2483Arg	PROT:P35555	FBN1	C	2483	R	C2483R	Pathogenic/Likely pathogenic	1	1	22	78
MUT:FBN1:Cys2483Gly	PROT:P35555	FBN1	C	2483	G	C2483G	Likely pathogenic	1	1	22	78
MUT:FBN1:Cys2483Ser	PROT:P35555	FBN1	C	2483	S	C2483S	Pathogenic	1	1	22	78
MUT:FBN1:Cys2483Tyr	PROT:P35555	FBN1	C	2483	Y	C2483Y	Pathogenic/Likely pathogenic	1	2	22	78
MUT:FBN1:Cys2489Gly	PROT:P35555	FBN1	C	2489	G	C2489G	Likely pathogenic	1	1	22	72
MUT:FBN1:Cys2496Phe	PROT:P35555	FBN1	C	2496	F	C2496F	Pathogenic	1	1	22	65
MUT:FBN1:Cys2496Ser	PROT:P35555	FBN1	C	2496	S	C2496S	Likely pathogenic	1	1	22	65
MUT:FBN1:Cys2500Arg	PROT:P35555	FBN1	C	2500	R	C2500R	Pathogenic	1	2	22	61
MUT:FBN1:Cys2500Ser	PROT:P35555	FBN1	C	2500	S	C2500S	Likely pathogenic	1	1	22	61
MUT:FBN1:Cys2500Tyr	PROT:P35555	FBN1	C	2500	Y	C2500Y	Pathogenic/Likely pathogenic	1	1	22	61
MUT:FBN1:Cys2509Gly	PROT:P35555	FBN1	C	2509	G	C2509G	Likely pathogenic	1	1	22	52
MUT:FBN1:Cys2509Ser	PROT:P35555	FBN1	C	2509	S	C2509S	Pathogenic	1	1	22	52
MUT:FBN1:Cys2511Arg	PROT:P35555	FBN1	C	2511	R	C2511R	Pathogenic	1	2	22	50
MUT:FBN1:Cys2511Trp	PROT:P35555	FBN1	C	2511	W	C2511W	Pathogenic/Likely pathogenic	1	1	22	50
MUT:FBN1:Cys2511Tyr	PROT:P35555	FBN1	C	2511	Y	C2511Y	Pathogenic/Likely pathogenic	1	2	22	50
MUT:FBN1:Cys2522Tyr	PROT:P35555	FBN1	C	2522	Y	C2522Y	Likely pathogenic	1	1	22	39
MUT:FBN1:Cys2528Arg	PROT:P35555	FBN1	C	2528	R	C2528R	Pathogenic/Likely pathogenic	1	1	22	33
MUT:FBN1:Cys2528Trp	PROT:P35555	FBN1	C	2528	W	C2528W	Pathogenic/Likely pathogenic	1	1	22	33
MUT:FBN1:Cys2535Arg	PROT:P35555	FBN1	C	2535	R	C2535R	Likely pathogenic	1	1	22	26
MUT:FBN1:Cys2535Trp	PROT:P35555	FBN1	C	2535	W	C2535W	Pathogenic/Likely pathogenic	1	1	22	26
MUT:FBN1:Cys2541Trp	PROT:P35555	FBN1	C	2541	W	C2541W	Likely pathogenic	1	1	22	20
MUT:FBN1:Cys2550Ser	PROT:P35555	FBN1	C	2550	S	C2550S	Likely pathogenic	1	2	22	11
MUT:FBN1:Cys2550Tyr	PROT:P35555	FBN1	C	2550	Y	C2550Y	Pathogenic/Likely pathogenic	1	1	22	11
MUT:FBN1:Cys2552Arg	PROT:P35555	FBN1	C	2552	R	C2552R	Likely pathogenic	1	1	22	9
MUT:FBN1:Cys2565Tyr	PROT:P35555	FBN1	C	2565	Y	C2565Y	Pathogenic	1	1	22	1
MUT:FBN1:Cys2571Arg	PROT:P35555	FBN1	C	2571	R	C2571R	Pathogenic/Likely pathogenic	1	1	22	7
MUT:FBN1:Cys2571Phe	PROT:P35555	FBN1	C	2571	F	C2571F	Likely pathogenic	1	1	22	7
MUT:FBN1:Cys2571Tyr	PROT:P35555	FBN1	C	2571	Y	C2571Y	Pathogenic/Likely pathogenic	1	1	22	7
MUT:FBN1:Cys2581Phe	PROT:P35555	FBN1	C	2581	F	C2581F	Likely pathogenic	1	1	22	17
MUT:FBN1:Cys2581Ser	PROT:P35555	FBN1	C	2581	S	C2581S	Pathogenic	1	1	22	17
MUT:FBN1:Cys2581Tyr	PROT:P35555	FBN1	C	2581	Y	C2581Y	Likely pathogenic	1	2	22	17
MUT:FBN1:Cys2590Tyr	PROT:P35555	FBN1	C	2590	Y	C2590Y	Pathogenic/Likely pathogenic	1	2	22	26
MUT:FBN1:Cys2592Gly	PROT:P35555	FBN1	C	2592	G	C2592G	Likely pathogenic	1	1	22	28
MUT:FBN1:Cys2592Phe	PROT:P35555	FBN1	C	2592	F	C2592F	Pathogenic	1	1	22	28
MUT:FBN1:Cys2592Tyr	PROT:P35555	FBN1	C	2592	Y	C2592Y	Pathogenic	1	2	22	28
MUT:FBN1:Cys2611Tyr	PROT:P35555	FBN1	C	2611	Y	C2611Y	Pathogenic/Likely pathogenic	1	1	22	47
MUT:FBN1:Cys2617Tyr	PROT:P35555	FBN1	C	2617	Y	C2617Y	Likely pathogenic	1	1	22	53
MUT:FBN1:Cys2622Arg	PROT:P35555	FBN1	C	2622	R	C2622R	Pathogenic	1	1	22	58
MUT:FBN1:Cys2622Gly	PROT:P35555	FBN1	C	2622	G	C2622G	Pathogenic	1	1	22	58
MUT:FBN1:Cys2622Ser	PROT:P35555	FBN1	C	2622	S	C2622S	Likely pathogenic	1	1	22	58
MUT:FBN1:Cys2622Tyr	PROT:P35555	FBN1	C	2622	Y	C2622Y	Likely pathogenic	1	1	22	58
MUT:FBN1:Cys262Phe	PROT:P35555	FBN1	C	262	F	C262F	Likely pathogenic	1	1	22	147
MUT:FBN1:Cys2631Phe	PROT:P35555	FBN1	C	2631	F	C2631F	Pathogenic/Likely pathogenic	1	1	22	67
MUT:FBN1:Cys2631Tyr	PROT:P35555	FBN1	C	2631	Y	C2631Y	Pathogenic	1	1	22	67
MUT:FBN1:Cys2633Arg	PROT:P35555	FBN1	C	2633	R	C2633R	Pathogenic/Likely pathogenic	1	1	22	69
MUT:FBN1:Cys2633Gly	PROT:P35555	FBN1	C	2633	G	C2633G	Likely pathogenic	1	1	22	69
MUT:FBN1:Cys2633Ser	PROT:P35555	FBN1	C	2633	S	C2633S	Likely pathogenic	1	1	22	69
MUT:FBN1:Cys2646Arg	PROT:P35555	FBN1	C	2646	R	C2646R	Likely pathogenic	1	1	22	56
MUT:FBN1:Cys2652Tyr	PROT:P35555	FBN1	C	2652	Y	C2652Y	Pathogenic/Likely pathogenic	1	1	22	50
MUT:FBN1:Cys2659Gly	PROT:P35555	FBN1	C	2659	G	C2659G	Pathogenic	1	1	22	43
MUT:FBN1:Cys2663Ser	PROT:P35555	FBN1	C	2663	S	C2663S	Pathogenic	1	1	22	39
MUT:FBN1:Cys2672Gly	PROT:P35555	FBN1	C	2672	G	C2672G	Likely pathogenic	1	1	22	30
MUT:FBN1:Cys2672Ser	PROT:P35555	FBN1	C	2672	S	C2672S	Likely pathogenic	1	2	22	30
MUT:FBN1:Cys2672Tyr	PROT:P35555	FBN1	C	2672	Y	C2672Y	Likely pathogenic	1	1	22	30
MUT:FBN1:Cys2674Ser	PROT:P35555	FBN1	C	2674	S	C2674S	Likely pathogenic	1	1	22	28
MUT:FBN1:Cys2674Tyr	PROT:P35555	FBN1	C	2674	Y	C2674Y	Pathogenic/Likely pathogenic	1	1	22	28
MUT:FBN1:Cys271Ser	PROT:P35555	FBN1	C	271	S	C271S	Likely pathogenic	1	1	22	156
MUT:FBN1:Cys271Trp	PROT:P35555	FBN1	C	271	W	C271W	Likely pathogenic	1	1	22	156
MUT:FBN1:Cys271Tyr	PROT:P35555	FBN1	C	271	Y	C271Y	Likely pathogenic	1	1	22	156
MUT:FBN1:Cys304Tyr	PROT:P35555	FBN1	C	304	Y	C304Y	Likely pathogenic	1	2	22	189
MUT:FBN1:Cys313Trp	PROT:P35555	FBN1	C	313	W	C313W	Pathogenic	1	1	22	198
MUT:FBN1:Cys313Tyr	PROT:P35555	FBN1	C	313	Y	C313Y	Likely pathogenic	1	1	22	198
MUT:FBN1:Cys336Arg	PROT:P35555	FBN1	C	336	R	C336R	Pathogenic	1	2	22	221
MUT:FBN1:Cys358Ser	PROT:P35555	FBN1	C	358	S	C358S	Pathogenic/Likely pathogenic	1	2	22	243
MUT:FBN1:Cys358Trp	PROT:P35555	FBN1	C	358	W	C358W	Likely pathogenic	1	1	22	243
MUT:FBN1:Cys358Tyr	PROT:P35555	FBN1	C	358	Y	C358Y	Likely pathogenic	1	1	22	243
MUT:FBN1:Cys359Arg	PROT:P35555	FBN1	C	359	R	C359R	Likely pathogenic	1	1	22	244
MUT:FBN1:Cys359Tyr	PROT:P35555	FBN1	C	359	Y	C359Y	Likely pathogenic	1	1	22	244
MUT:FBN1:Cys360Trp	PROT:P35555	FBN1	C	360	W	C360W	Likely pathogenic	1	1	22	245
MUT:FBN1:Cys377Arg	PROT:P35555	FBN1	C	377	R	C377R	Likely pathogenic	1	1	22	262
MUT:FBN1:Cys377Gly	PROT:P35555	FBN1	C	377	G	C377G	Likely pathogenic	1	2	22	262
MUT:FBN1:Cys377Tyr	PROT:P35555	FBN1	C	377	Y	C377Y	Pathogenic/Likely pathogenic	1	2	22	262
MUT:FBN1:Cys460Ser	PROT:P35555	FBN1	C	460	S	C460S	Likely pathogenic	1	2	22	206
MUT:FBN1:Cys460Trp	PROT:P35555	FBN1	C	460	W	C460W	Likely pathogenic	1	1	22	206
MUT:FBN1:Cys460Tyr	PROT:P35555	FBN1	C	460	Y	C460Y	Likely pathogenic	1	1	22	206
MUT:FBN1:Cys474Phe	PROT:P35555	FBN1	C	474	F	C474F	Pathogenic/Likely pathogenic	1	2	22	192
MUT:FBN1:Cys474Trp	PROT:P35555	FBN1	C	474	W	C474W	Likely pathogenic	1	1	22	192
MUT:FBN1:Cys474Tyr	PROT:P35555	FBN1	C	474	Y	C474Y	Pathogenic/Likely pathogenic	1	3	22	192
MUT:FBN1:Cys476Arg	PROT:P35555	FBN1	C	476	R	C476R	Pathogenic/Likely pathogenic	1	2	22	190
MUT:FBN1:Cys476Gly	PROT:P35555	FBN1	C	476	G	C476G	Pathogenic	1	2	22	190
MUT:FBN1:Cys476Ser	PROT:P35555	FBN1	C	476	S	C476S	Likely pathogenic	1	1	22	190
MUT:FBN1:Cys476Trp	PROT:P35555	FBN1	C	476	W	C476W	Pathogenic/Likely pathogenic	1	1	22	190
MUT:FBN1:Cys476Tyr	PROT:P35555	FBN1	C	476	Y	C476Y	Pathogenic/Likely pathogenic	1	1	22	190
MUT:FBN1:Cys488Arg	PROT:P35555	FBN1	C	488	R	C488R	Pathogenic/Likely pathogenic	1	2	22	178
MUT:FBN1:Cys488Gly	PROT:P35555	FBN1	C	488	G	C488G	Likely pathogenic	1	1	22	178
MUT:FBN1:Cys488Phe	PROT:P35555	FBN1	C	488	F	C488F	Likely pathogenic	1	1	22	178
MUT:FBN1:Cys488Tyr	PROT:P35555	FBN1	C	488	Y	C488Y	Pathogenic/Likely pathogenic	1	3	22	178
MUT:FBN1:Cys494Ser	PROT:P35555	FBN1	C	494	S	C494S	Likely pathogenic	1	1	22	172
MUT:FBN1:Cys494Tyr	PROT:P35555	FBN1	C	494	Y	C494Y	Pathogenic/Likely pathogenic	1	1	22	172
MUT:FBN1:Cys499Gly	PROT:P35555	FBN1	C	499	G	C499G	Likely pathogenic	1	1	22	167
MUT:FBN1:Cys499Tyr	PROT:P35555	FBN1	C	499	Y	C499Y	Pathogenic	1	1	22	167
MUT:FBN1:Cys504Arg	PROT:P35555	FBN1	C	504	R	C504R	Pathogenic/Likely pathogenic	1	1	22	162
MUT:FBN1:Cys504Ser	PROT:P35555	FBN1	C	504	S	C504S	Likely pathogenic	1	1	22	162
MUT:FBN1:Cys504Tyr	PROT:P35555	FBN1	C	504	Y	C504Y	Pathogenic	1	2	22	162
MUT:FBN1:Cys513Arg	PROT:P35555	FBN1	C	513	R	C513R	Pathogenic/Likely pathogenic	1	2	22	153
MUT:FBN1:Cys513Phe	PROT:P35555	FBN1	C	513	F	C513F	Likely pathogenic	1	2	22	153
MUT:FBN1:Cys513Ser	PROT:P35555	FBN1	C	513	S	C513S	Likely pathogenic	1	1	22	153
MUT:FBN1:Cys515Gly	PROT:P35555	FBN1	C	515	G	C515G	Likely pathogenic	1	1	22	151
MUT:FBN1:Cys534Arg	PROT:P35555	FBN1	C	534	R	C534R	Likely pathogenic	1	1	22	132
MUT:FBN1:Cys534Tyr	PROT:P35555	FBN1	C	534	Y	C534Y	Pathogenic/Likely pathogenic	1	1	22	132
MUT:FBN1:Cys541Phe	PROT:P35555	FBN1	C	541	F	C541F	Likely pathogenic	1	1	22	125
MUT:FBN1:Cys541Tyr	PROT:P35555	FBN1	C	541	Y	C541Y	Pathogenic	1	1	22	125
MUT:FBN1:Cys546Arg	PROT:P35555	FBN1	C	546	R	C546R	Likely pathogenic	1	1	22	120
MUT:FBN1:Cys546Tyr	PROT:P35555	FBN1	C	546	Y	C546Y	Likely pathogenic	1	2	22	120
MUT:FBN1:Cys555Arg	PROT:P35555	FBN1	C	555	R	C555R	Pathogenic/Likely pathogenic	1	1	22	111
MUT:FBN1:Cys555Tyr	PROT:P35555	FBN1	C	555	Y	C555Y	Pathogenic	1	2	22	111
MUT:FBN1:Cys557Arg	PROT:P35555	FBN1	C	557	R	C557R	Likely pathogenic	1	1	22	109
MUT:FBN1:Cys557Trp	PROT:P35555	FBN1	C	557	W	C557W	Likely pathogenic	1	1	22	109
MUT:FBN1:Cys557Tyr	PROT:P35555	FBN1	C	557	Y	C557Y	Pathogenic	1	1	22	109
MUT:FBN1:Cys570Arg	PROT:P35555	FBN1	C	570	R	C570R	Pathogenic	1	3	22	96
MUT:FBN1:Cys570Leu	PROT:P35555	FBN1	C	570	L	C570L	Likely pathogenic	1	1	22	96
MUT:FBN1:Cys570Ser	PROT:P35555	FBN1	C	570	S	C570S	Pathogenic	1	1	22	96
MUT:FBN1:Cys570Tyr	PROT:P35555	FBN1	C	570	Y	C570Y	Pathogenic	1	3	22	96
MUT:FBN1:Cys576Tyr	PROT:P35555	FBN1	C	576	Y	C576Y	Pathogenic	1	2	22	90
MUT:FBN1:Cys582Trp	PROT:P35555	FBN1	C	582	W	C582W	Pathogenic/Likely pathogenic	1	1	22	84
MUT:FBN1:Cys582Tyr	PROT:P35555	FBN1	C	582	Y	C582Y	Pathogenic/Likely pathogenic	1	1	22	84
MUT:FBN1:Cys587Arg	PROT:P35555	FBN1	C	587	R	C587R	Pathogenic	1	1	22	79
MUT:FBN1:Cys587Gly	PROT:P35555	FBN1	C	587	G	C587G	Pathogenic/Likely pathogenic	1	2	22	79
MUT:FBN1:Cys587Tyr	PROT:P35555	FBN1	C	587	Y	C587Y	Pathogenic	1	1	22	79
MUT:FBN1:Cys596Gly	PROT:P35555	FBN1	C	596	G	C596G	Pathogenic	1	1	22	70
MUT:FBN1:Cys596Tyr	PROT:P35555	FBN1	C	596	Y	C596Y	Pathogenic/Likely pathogenic	1	1	22	70
MUT:FBN1:Cys598Ser	PROT:P35555	FBN1	C	598	S	C598S	Pathogenic	1	1	22	68
MUT:FBN1:Cys598Trp	PROT:P35555	FBN1	C	598	W	C598W	Pathogenic	1	1	22	68
MUT:FBN1:Cys598Tyr	PROT:P35555	FBN1	C	598	Y	C598Y	Likely pathogenic	1	1	22	68
MUT:FBN1:Cys59Phe	PROT:P35555	FBN1	C	59	F	C59F	Likely pathogenic	1	1	22	56
MUT:FBN1:Cys611Arg	PROT:P35555	FBN1	C	611	R	C611R	Pathogenic	1	1	22	55
MUT:FBN1:Cys617Arg	PROT:P35555	FBN1	C	617	R	C617R	Pathogenic/Likely pathogenic	1	3	22	49
MUT:FBN1:Cys617Gly	PROT:P35555	FBN1	C	617	G	C617G	Pathogenic	1	1	22	49
MUT:FBN1:Cys617Tyr	PROT:P35555	FBN1	C	617	Y	C617Y	Pathogenic	1	2	22	49
MUT:FBN1:Cys623Phe	PROT:P35555	FBN1	C	623	F	C623F	Pathogenic/Likely pathogenic	1	2	22	43
MUT:FBN1:Cys623Ser	PROT:P35555	FBN1	C	623	S	C623S	Likely pathogenic	1	1	22	43
MUT:FBN1:Cys628Asn	PROT:P35555	FBN1	C	628	N	C628N	Likely pathogenic	1	1	22	38
MUT:FBN1:Cys628Phe	PROT:P35555	FBN1	C	628	F	C628F	Pathogenic	1	1	22	38
MUT:FBN1:Cys628Ser	PROT:P35555	FBN1	C	628	S	C628S	Likely pathogenic	1	1	22	38
MUT:FBN1:Cys628Trp	PROT:P35555	FBN1	C	628	W	C628W	Pathogenic/Likely pathogenic	1	1	22	38
MUT:FBN1:Cys637Ser	PROT:P35555	FBN1	C	637	S	C637S	Pathogenic	1	2	22	29
MUT:FBN1:Cys639Ser	PROT:P35555	FBN1	C	639	S	C639S	Pathogenic	1	1	22	27
MUT:FBN1:Cys639Tyr	PROT:P35555	FBN1	C	639	Y	C639Y	Pathogenic	1	1	22	27
MUT:FBN1:Cys652Trp	PROT:P35555	FBN1	C	652	W	C652W	Pathogenic	1	1	22	14
MUT:FBN1:Cys652Tyr	PROT:P35555	FBN1	C	652	Y	C652Y	Pathogenic	1	1	22	14
MUT:FBN1:Cys661Tyr	PROT:P35555	FBN1	C	661	Y	C661Y	Pathogenic/Likely pathogenic	1	1	22	5
MUT:FBN1:Cys67Arg	PROT:P35555	FBN1	C	67	R	C67R	Likely pathogenic	1	2	22	48
MUT:FBN1:Cys684Arg	PROT:P35555	FBN1	C	684	R	C684R	Pathogenic/Likely pathogenic	1	2	22	18
MUT:FBN1:Cys684Phe	PROT:P35555	FBN1	C	684	F	C684F	Pathogenic/Likely pathogenic	1	1	22	18
MUT:FBN1:Cys684Ser	PROT:P35555	FBN1	C	684	S	C684S	Likely pathogenic	1	1	22	18
MUT:FBN1:Cys684Tyr	PROT:P35555	FBN1	C	684	Y	C684Y	Pathogenic/Likely pathogenic	1	1	22	18
MUT:FBN1:Cys685Arg	PROT:P35555	FBN1	C	685	R	C685R	Likely pathogenic	1	1	22	19
MUT:FBN1:Cys685Trp	PROT:P35555	FBN1	C	685	W	C685W	Pathogenic/Likely pathogenic	1	1	22	19
MUT:FBN1:Cys685Tyr	PROT:P35555	FBN1	C	685	Y	C685Y	Pathogenic/Likely pathogenic	1	1	22	19
MUT:FBN1:Cys68Arg	PROT:P35555	FBN1	C	68	R	C68R	Likely pathogenic	1	1	22	47
MUT:FBN1:Cys68Tyr	PROT:P35555	FBN1	C	68	Y	C68Y	Pathogenic/Likely pathogenic	1	1	22	47
MUT:FBN1:Cys711Arg	PROT:P35555	FBN1	C	711	R	C711R	Pathogenic/Likely pathogenic	1	3	22	36
MUT:FBN1:Cys727Arg	PROT:P35555	FBN1	C	727	R	C727R	Pathogenic/Likely pathogenic	1	1	22	20
MUT:FBN1:Cys727Tyr	PROT:P35555	FBN1	C	727	Y	C727Y	Pathogenic/Likely pathogenic	1	1	22	20
MUT:FBN1:Cys734Ser	PROT:P35555	FBN1	C	734	S	C734S	Likely pathogenic	1	2	22	13
MUT:FBN1:Cys739Trp	PROT:P35555	FBN1	C	739	W	C739W	Pathogenic	1	1	22	8
MUT:FBN1:Cys739Tyr	PROT:P35555	FBN1	C	739	Y	C739Y	Pathogenic	1	1	22	8
MUT:FBN1:Cys748Arg	PROT:P35555	FBN1	C	748	R	C748R	Pathogenic/Likely pathogenic	1	3	22	1
MUT:FBN1:Cys748Tyr	PROT:P35555	FBN1	C	748	Y	C748Y	Pathogenic/Likely pathogenic	1	2	22	1
MUT:FBN1:Cys750Arg	PROT:P35555	FBN1	C	750	R	C750R	Pathogenic/Likely pathogenic	1	2	22	3
MUT:FBN1:Cys750Tyr	PROT:P35555	FBN1	C	750	Y	C750Y	Pathogenic/Likely pathogenic	1	2	22	3
MUT:FBN1:Cys763Arg	PROT:P35555	FBN1	C	763	R	C763R	Likely pathogenic	1	2	22	16
MUT:FBN1:Cys763Gly	PROT:P35555	FBN1	C	763	G	C763G	Pathogenic	1	1	22	16
MUT:FBN1:Cys763Tyr	PROT:P35555	FBN1	C	763	Y	C763Y	Pathogenic	1	1	22	16
MUT:FBN1:Cys769Arg	PROT:P35555	FBN1	C	769	R	C769R	Pathogenic/Likely pathogenic	1	1	22	22
MUT:FBN1:Cys769Trp	PROT:P35555	FBN1	C	769	W	C769W	Pathogenic	1	1	22	22
MUT:FBN1:Cys769Tyr	PROT:P35555	FBN1	C	769	Y	C769Y	Pathogenic/Likely pathogenic	1	3	22	22
MUT:FBN1:Cys776Phe	PROT:P35555	FBN1	C	776	F	C776F	Likely pathogenic	1	1	22	23
MUT:FBN1:Cys776Ser	PROT:P35555	FBN1	C	776	S	C776S	Likely pathogenic	1	1	22	23
MUT:FBN1:Cys776Tyr	PROT:P35555	FBN1	C	776	Y	C776Y	Pathogenic	1	1	22	23
MUT:FBN1:Cys781Arg	PROT:P35555	FBN1	C	781	R	C781R	Pathogenic/Likely pathogenic	1	2	22	18
MUT:FBN1:Cys781Ser	PROT:P35555	FBN1	C	781	S	C781S	Pathogenic	1	1	22	18
MUT:FBN1:Cys781Tyr	PROT:P35555	FBN1	C	781	Y	C781Y	Pathogenic/Likely pathogenic	1	2	22	18
MUT:FBN1:Cys790Ser	PROT:P35555	FBN1	C	790	S	C790S	Pathogenic/Likely pathogenic	1	1	22	9
MUT:FBN1:Cys790Tyr	PROT:P35555	FBN1	C	790	Y	C790Y	Pathogenic/Likely pathogenic	1	2	22	9
MUT:FBN1:Cys792Arg	PROT:P35555	FBN1	C	792	R	C792R	Likely pathogenic	1	2	22	7
MUT:FBN1:Cys792Phe	PROT:P35555	FBN1	C	792	F	C792F	Likely pathogenic	1	1	22	7
MUT:FBN1:Cys805Arg	PROT:P35555	FBN1	C	805	R	C805R	Pathogenic	1	1	22	6
MUT:FBN1:Cys805Trp	PROT:P35555	FBN1	C	805	W	C805W	Pathogenic	1	1	22	6
MUT:FBN1:Cys80Arg	PROT:P35555	FBN1	C	80	R	C80R	Pathogenic/Likely pathogenic	1	1	22	35
MUT:FBN1:Cys80Gly	PROT:P35555	FBN1	C	80	G	C80G	Likely pathogenic	1	1	22	35
MUT:FBN1:Cys80Tyr	PROT:P35555	FBN1	C	80	Y	C80Y	Pathogenic/Likely pathogenic	1	2	22	35
MUT:FBN1:Cys811Trp	PROT:P35555	FBN1	C	811	W	C811W	Pathogenic	1	1	22	12
MUT:FBN1:Cys811Tyr	PROT:P35555	FBN1	C	811	Y	C811Y	Pathogenic/Likely pathogenic	1	2	22	12
MUT:FBN1:Cys816Arg	PROT:P35555	FBN1	C	816	R	C816R	Pathogenic/Likely pathogenic	1	1	22	17
MUT:FBN1:Cys816Ser	PROT:P35555	FBN1	C	816	S	C816S	Likely pathogenic	1	1	22	17
MUT:FBN1:Cys816Trp	PROT:P35555	FBN1	C	816	W	C816W	Likely pathogenic	1	1	22	17
MUT:FBN1:Cys821Trp	PROT:P35555	FBN1	C	821	W	C821W	Likely pathogenic	1	1	22	22
MUT:FBN1:Cys830Gly	PROT:P35555	FBN1	C	830	G	C830G	Likely pathogenic	1	1	22	31
MUT:FBN1:Cys830Phe	PROT:P35555	FBN1	C	830	F	C830F	Pathogenic/Likely pathogenic	1	1	22	31
MUT:FBN1:Cys830Ser	PROT:P35555	FBN1	C	830	S	C830S	Pathogenic/Likely pathogenic	1	2	22	31
MUT:FBN1:Cys830Tyr	PROT:P35555	FBN1	C	830	Y	C830Y	Pathogenic	1	1	22	31
MUT:FBN1:Cys832Phe	PROT:P35555	FBN1	C	832	F	C832F	Pathogenic	1	2	22	33
MUT:FBN1:Cys832Trp	PROT:P35555	FBN1	C	832	W	C832W	Pathogenic/Likely pathogenic	1	1	22	33
MUT:FBN1:Cys832Tyr	PROT:P35555	FBN1	C	832	Y	C832Y	Pathogenic/Likely pathogenic	1	1	22	33
MUT:FBN1:Cys853Arg	PROT:P35555	FBN1	C	853	R	C853R	Pathogenic	1	1	22	51
MUT:FBN1:Cys853Ser	PROT:P35555	FBN1	C	853	S	C853S	Likely pathogenic	1	2	22	51
MUT:FBN1:Cys853Tyr	PROT:P35555	FBN1	C	853	Y	C853Y	Likely pathogenic	1	1	22	51
MUT:FBN1:Cys862Arg	PROT:P35555	FBN1	C	862	R	C862R	Pathogenic/Likely pathogenic	1	1	22	42
MUT:FBN1:Cys862Ser	PROT:P35555	FBN1	C	862	S	C862S	Pathogenic	1	1	22	42
MUT:FBN1:Cys862Tyr	PROT:P35555	FBN1	C	862	Y	C862Y	Pathogenic	1	2	22	42
MUT:FBN1:Cys875Tyr	PROT:P35555	FBN1	C	875	Y	C875Y	Likely pathogenic	1	2	22	29
MUT:FBN1:Cys876Gly	PROT:P35555	FBN1	C	876	G	C876G	Likely pathogenic	1	1	22	28
MUT:FBN1:Cys876Phe	PROT:P35555	FBN1	C	876	F	C876F	Pathogenic/Likely pathogenic	1	2	22	28
MUT:FBN1:Cys876Ser	PROT:P35555	FBN1	C	876	S	C876S	Likely pathogenic	1	1	22	28
MUT:FBN1:Cys876Tyr	PROT:P35555	FBN1	C	876	Y	C876Y	Pathogenic/Likely pathogenic	1	1	22	28
MUT:FBN1:Cys887Arg	PROT:P35555	FBN1	C	887	R	C887R	Likely pathogenic	1	1	22	17
MUT:FBN1:Cys887Tyr	PROT:P35555	FBN1	C	887	Y	C887Y	Likely pathogenic	1	3	22	17
MUT:FBN1:Cys890Gly	PROT:P35555	FBN1	C	890	G	C890G	Likely pathogenic	1	1	22	14
MUT:FBN1:Cys890Tyr	PROT:P35555	FBN1	C	890	Y	C890Y	Likely pathogenic	1	3	22	14
MUT:FBN1:Cys896Phe	PROT:P35555	FBN1	C	896	F	C896F	Pathogenic	1	1	22	8
MUT:FBN1:Cys896Ser	PROT:P35555	FBN1	C	896	S	C896S	Likely pathogenic	1	1	22	8
MUT:FBN1:Cys89Arg	PROT:P35555	FBN1	C	89	R	C89R	Likely pathogenic	1	1	22	26
MUT:FBN1:Cys89Gly	PROT:P35555	FBN1	C	89	G	C89G	Likely pathogenic	1	1	22	26
MUT:FBN1:Cys89Ser	PROT:P35555	FBN1	C	89	S	C89S	Likely pathogenic	1	1	22	26
MUT:FBN1:Cys89Tyr	PROT:P35555	FBN1	C	89	Y	C89Y	Pathogenic/Likely pathogenic	1	2	22	26
MUT:FBN1:Cys908Arg	PROT:P35555	FBN1	C	908	R	C908R	Pathogenic/Likely pathogenic	1	2	22	4
MUT:FBN1:Cys908Trp	PROT:P35555	FBN1	C	908	W	C908W	Pathogenic	1	1	22	4
MUT:FBN1:Cys908Tyr	PROT:P35555	FBN1	C	908	Y	C908Y	Pathogenic/Likely pathogenic	1	4	22	4
MUT:FBN1:Cys914Ser	PROT:P35555	FBN1	C	914	S	C914S	Pathogenic	1	1	22	10
MUT:FBN1:Cys914Tyr	PROT:P35555	FBN1	C	914	Y	C914Y	Pathogenic/Likely pathogenic	1	1	22	10
MUT:FBN1:Cys921Arg	PROT:P35555	FBN1	C	921	R	C921R	Pathogenic	1	1	22	17
MUT:FBN1:Cys921Tyr	PROT:P35555	FBN1	C	921	Y	C921Y	Pathogenic	1	1	22	17
MUT:FBN1:Cys926Arg	PROT:P35555	FBN1	C	926	R	C926R	Pathogenic	1	1	22	22
MUT:FBN1:Cys926Ser	PROT:P35555	FBN1	C	926	S	C926S	Pathogenic	1	1	22	22
MUT:FBN1:Cys926Tyr	PROT:P35555	FBN1	C	926	Y	C926Y	Pathogenic	1	2	22	22
MUT:FBN1:Cys937Phe	PROT:P35555	FBN1	C	937	F	C937F	Likely pathogenic	1	1	22	33
MUT:FBN1:Cys950Phe	PROT:P35555	FBN1	C	950	F	C950F	Pathogenic	1	1	22	46
MUT:FBN1:Cys950Ser	PROT:P35555	FBN1	C	950	S	C950S	Pathogenic	1	1	22	46
MUT:FBN1:Cys950Tyr	PROT:P35555	FBN1	C	950	Y	C950Y	Likely pathogenic	1	1	22	46
MUT:FBN1:Cys958Tyr	PROT:P35555	FBN1	C	958	Y	C958Y	Likely pathogenic	1	1	22	54
MUT:FBN1:Cys980Phe	PROT:P35555	FBN1	C	980	F	C980F	Likely pathogenic	1	1	22	37
MUT:FBN1:Cys981Ser	PROT:P35555	FBN1	C	981	S	C981S	Likely pathogenic	1	1	22	36
MUT:FBN1:Cys981Tyr	PROT:P35555	FBN1	C	981	Y	C981Y	Likely pathogenic	1	1	22	36
MUT:FBN1:Cys982Phe	PROT:P35555	FBN1	C	982	F	C982F	Likely pathogenic	1	1	22	35
MUT:FBN1:Gln2867Pro	PROT:P35555	FBN1	Q	2867	P	Q2867P	Likely pathogenic	1	1	22	156
MUT:FBN1:Glu1073Lys	PROT:P35555	FBN1	E	1073	K	E1073K	Pathogenic	1	4	22	23
MUT:FBN1:Glu1116Lys	PROT:P35555	FBN1	E	1116	K	E1116K	Likely pathogenic	1	1	22	13
MUT:FBN1:Glu1158Lys	PROT:P35555	FBN1	E	1158	K	E1158K	Likely pathogenic	1	1	22	55
MUT:FBN1:Glu1200Val	PROT:P35555	FBN1	E	1200	V	E1200V	Likely pathogenic	1	1	22	97
MUT:FBN1:Glu1241Lys	PROT:P35555	FBN1	E	1241	K	E1241K	Likely pathogenic	1	1	22	99
MUT:FBN1:Glu1283Lys	PROT:P35555	FBN1	E	1283	K	E1283K	Likely pathogenic	1	1	22	57
MUT:FBN1:Glu1297Gly	PROT:P35555	FBN1	E	1297	G	E1297G	Benign/Likely benign	0	7	22	43
MUT:FBN1:Glu1366Lys	PROT:P35555	FBN1	E	1366	K	E1366K	Pathogenic/Likely pathogenic	1	4	22	21
MUT:FBN1:Glu1490Lys	PROT:P35555	FBN1	E	1490	K	E1490K	Pathogenic/Likely pathogenic	1	2	22	45
MUT:FBN1:Glu1811Lys	PROT:P35555	FBN1	E	1811	K	E1811K	Pathogenic/Likely pathogenic	1	3	22	276
MUT:FBN1:Glu1894Lys	PROT:P35555	FBN1	E	1894	K	E1894K	Pathogenic/Likely pathogenic	1	2	22	330
MUT:FBN1:Glu1976Ala	PROT:P35555	FBN1	E	1976	A	E1976A	Pathogenic/Likely pathogenic	1	1	22	248
MUT:FBN1:Glu2105Asp	PROT:P35555	FBN1	E	2105	D	E2105D	Likely pathogenic	1	1	22	119
MUT:FBN1:Glu2130Lys	PROT:P35555	FBN1	E	2130	K	E2130K	Pathogenic/Likely pathogenic	1	4	22	94
MUT:FBN1:Glu2130Val	PROT:P35555	FBN1	E	2130	V	E2130V	Pathogenic	1	1	22	94
MUT:FBN1:Glu2250Val	PROT:P35555	FBN1	E	2250	V	E2250V	Likely pathogenic	1	1	22	26
MUT:FBN1:Glu2294Ala	PROT:P35555	FBN1	E	2294	A	E2294A	Likely pathogenic	1	1	22	70
MUT:FBN1:Glu2447Lys	PROT:P35555	FBN1	E	2447	K	E2447K	Pathogenic/Likely pathogenic	1	4	22	59
MUT:FBN1:Glu2527Ala	PROT:P35555	FBN1	E	2527	A	E2527A	Likely pathogenic	1	1	22	34
MUT:FBN1:Glu2570Lys	PROT:P35555	FBN1	E	2570	K	E2570K	Pathogenic/Likely pathogenic	1	2	22	6
MUT:FBN1:Glu2610Val	PROT:P35555	FBN1	E	2610	V	E2610V	Likely pathogenic	1	1	22	46
MUT:FBN1:Glu383Lys	PROT:P35555	FBN1	E	383	K	E383K	Likely pathogenic	1	2	22	268
MUT:FBN1:Glu533Asp	PROT:P35555	FBN1	E	533	D	E533D	Likely pathogenic	1	1	22	133
MUT:FBN1:Glu835Val	PROT:P35555	FBN1	E	835	V	E835V	Likely pathogenic	1	1	22	36
MUT:FBN1:Glu913Gly	PROT:P35555	FBN1	E	913	G	E913G	Likely pathogenic	1	1	22	9
MUT:FBN1:Gly1013Arg	PROT:P35555	FBN1	G	1013	R	G1013R	Pathogenic	1	2	22	4
MUT:FBN1:Gly1042Asp	PROT:P35555	FBN1	G	1042	D	G1042D	Likely pathogenic	1	2	22	1
MUT:FBN1:Gly1042Ser	PROT:P35555	FBN1	G	1042	S	G1042S	Pathogenic/Likely pathogenic	1	3	22	1
MUT:FBN1:Gly1100Ala	PROT:P35555	FBN1	G	1100	A	G1100A	Likely pathogenic	1	1	22	3
MUT:FBN1:Gly1100Val	PROT:P35555	FBN1	G	1100	V	G1100V	Likely pathogenic	1	1	22	3
MUT:FBN1:Gly1127Cys	PROT:P35555	FBN1	G	1127	C	G1127C	Pathogenic	1	1	22	24
MUT:FBN1:Gly1185Asp	PROT:P35555	FBN1	G	1185	D	G1185D	Likely pathogenic	1	2	22	82
MUT:FBN1:Gly1206Asp	PROT:P35555	FBN1	G	1206	D	G1206D	Likely pathogenic	1	1	22	103
MUT:FBN1:Gly1217Asp	PROT:P35555	FBN1	G	1217	D	G1217D	Likely pathogenic	1	1	22	114
MUT:FBN1:Gly1217Val	PROT:P35555	FBN1	G	1217	V	G1217V	Likely pathogenic	1	1	22	114
MUT:FBN1:Gly1226Arg	PROT:P35555	FBN1	G	1226	R	G1226R	Likely pathogenic	1	1	22	114
MUT:FBN1:Gly1310Asp	PROT:P35555	FBN1	G	1310	D	G1310D	Likely pathogenic	1	1	22	30
MUT:FBN1:Gly1344Glu	PROT:P35555	FBN1	G	1344	E	G1344E	Pathogenic/Likely pathogenic	1	1	22	1
MUT:FBN1:Gly1507Asp	PROT:P35555	FBN1	G	1507	D	G1507D	Pathogenic/Likely pathogenic	1	2	22	28
MUT:FBN1:Gly1507Val	PROT:P35555	FBN1	G	1507	V	G1507V	Likely pathogenic	1	1	22	28
MUT:FBN1:Gly1594Asp	PROT:P35555	FBN1	G	1594	D	G1594D	Pathogenic/Likely pathogenic	1	3	22	59
MUT:FBN1:Gly1594Cys	PROT:P35555	FBN1	G	1594	C	G1594C	Likely pathogenic	1	1	22	59
MUT:FBN1:Gly1661Glu	PROT:P35555	FBN1	G	1661	E	G1661E	Pathogenic	1	1	22	126
MUT:FBN1:Gly1726Asp	PROT:P35555	FBN1	G	1726	D	G1726D	Pathogenic/Likely pathogenic	1	1	22	191
MUT:FBN1:Gly1754Asp	PROT:P35555	FBN1	G	1754	D	G1754D	Likely pathogenic	1	1	22	219
MUT:FBN1:Gly1762Cys	PROT:P35555	FBN1	G	1762	C	G1762C	Likely pathogenic	1	1	22	227
MUT:FBN1:Gly1762Ser	PROT:P35555	FBN1	G	1762	S	G1762S	Pathogenic	1	3	22	227
MUT:FBN1:Gly1838Cys	PROT:P35555	FBN1	G	1838	C	G1838C	Likely pathogenic	1	3	22	303
MUT:FBN1:Gly1863Arg	PROT:P35555	FBN1	G	1863	R	G1863R	Likely pathogenic	1	2	22	328
MUT:FBN1:Gly1863Glu	PROT:P35555	FBN1	G	1863	E	G1863E	Pathogenic/Likely pathogenic	1	1	22	328
MUT:FBN1:Gly1879Asp	PROT:P35555	FBN1	G	1879	D	G1879D	Pathogenic	1	1	22	344
MUT:FBN1:Gly1879Val	PROT:P35555	FBN1	G	1879	V	G1879V	Likely pathogenic	1	1	22	344
MUT:FBN1:Gly1910Asp	PROT:P35555	FBN1	G	1910	D	G1910D	Pathogenic/Likely pathogenic	1	2	22	314
MUT:FBN1:Gly1910Val	PROT:P35555	FBN1	G	1910	V	G1910V	Pathogenic	1	1	22	314
MUT:FBN1:Gly1919Asp	PROT:P35555	FBN1	G	1919	D	G1919D	Likely pathogenic	1	1	22	305
MUT:FBN1:Gly1919Val	PROT:P35555	FBN1	G	1919	V	G1919V	Likely pathogenic	1	1	22	305
MUT:FBN1:Gly2027Asp	PROT:P35555	FBN1	G	2027	D	G2027D	Likely pathogenic	1	1	22	197
MUT:FBN1:Gly2027Cys	PROT:P35555	FBN1	G	2027	C	G2027C	Likely pathogenic	1	1	22	197
MUT:FBN1:Gly2140Glu	PROT:P35555	FBN1	G	2140	E	G2140E	Likely pathogenic	1	1	22	84
MUT:FBN1:Gly214Asp	PROT:P35555	FBN1	G	214	D	G214D	Likely pathogenic	1	1	22	99
MUT:FBN1:Gly214Ser	PROT:P35555	FBN1	G	214	S	G214S	Pathogenic/Likely pathogenic	1	3	22	99
MUT:FBN1:Gly2156Cys	PROT:P35555	FBN1	G	2156	C	G2156C	Likely pathogenic	1	1	22	68
MUT:FBN1:Gly2195Arg	PROT:P35555	FBN1	G	2195	R	G2195R	Pathogenic/Likely pathogenic	1	2	22	29
MUT:FBN1:Gly2235Val	PROT:P35555	FBN1	G	2235	V	G2235V	Likely pathogenic	1	1	22	11
MUT:FBN1:Gly234Asp	PROT:P35555	FBN1	G	234	D	G234D	Pathogenic	1	1	22	119
MUT:FBN1:Gly234Cys	PROT:P35555	FBN1	G	234	C	G234C	Likely pathogenic	1	1	22	119
MUT:FBN1:Gly2416Glu	PROT:P35555	FBN1	G	2416	E	G2416E	Likely pathogenic	1	1	22	28
MUT:FBN1:Gly2514Arg	PROT:P35555	FBN1	G	2514	R	G2514R	Pathogenic	1	5	22	47
MUT:FBN1:Gly2514Glu	PROT:P35555	FBN1	G	2514	E	G2514E	Likely pathogenic	1	1	22	47
MUT:FBN1:Gly2536Arg	PROT:P35555	FBN1	G	2536	R	G2536R	Pathogenic/Likely pathogenic	1	3	22	25
MUT:FBN1:Gly2555Arg	PROT:P35555	FBN1	G	2555	R	G2555R	Pathogenic/Likely pathogenic	1	3	22	6
MUT:FBN1:Gly2555Val	PROT:P35555	FBN1	G	2555	V	G2555V	Pathogenic	1	1	22	6
MUT:FBN1:Gly2562Cys	PROT:P35555	FBN1	G	2562	C	G2562C	Likely pathogenic	1	1	22	1
MUT:FBN1:Gly2587Cys	PROT:P35555	FBN1	G	2587	C	G2587C	Likely pathogenic	1	1	22	23
MUT:FBN1:Gly2627Arg	PROT:P35555	FBN1	G	2627	R	G2627R	Pathogenic/Likely pathogenic	1	3	22	63
MUT:FBN1:Gly2627Glu	PROT:P35555	FBN1	G	2627	E	G2627E	Likely pathogenic	1	1	22	63
MUT:FBN1:Gly2668Asp	PROT:P35555	FBN1	G	2668	D	G2668D	Likely pathogenic	1	1	22	34
MUT:FBN1:Gly2668Cys	PROT:P35555	FBN1	G	2668	C	G2668C	Likely pathogenic	1	1	22	34
MUT:FBN1:Gly2669Arg	PROT:P35555	FBN1	G	2669	R	G2669R	Likely pathogenic	1	1	22	33
MUT:FBN1:Gly2669Cys	PROT:P35555	FBN1	G	2669	C	G2669C	Pathogenic/Likely pathogenic	1	1	22	33
MUT:FBN1:Gly2669Val	PROT:P35555	FBN1	G	2669	V	G2669V	Pathogenic/Likely pathogenic	1	2	22	33
MUT:FBN1:Gly2677Cys	PROT:P35555	FBN1	G	2677	C	G2677C	Likely pathogenic	1	1	22	25
MUT:FBN1:Gly2802Val	PROT:P35555	FBN1	G	2802	V	G2802V	Likely pathogenic	1	1	22	91
MUT:FBN1:Gly544Arg	PROT:P35555	FBN1	G	544	R	G544R	Pathogenic	1	2	22	122
MUT:FBN1:Gly55Glu	PROT:P35555	FBN1	G	55	E	G55E	Likely pathogenic	1	1	22	60
MUT:FBN1:Gly560Val	PROT:P35555	FBN1	G	560	V	G560V	Pathogenic/Likely pathogenic	1	1	22	106
MUT:FBN1:Gly585Glu	PROT:P35555	FBN1	G	585	E	G585E	Likely pathogenic	1	3	22	81
MUT:FBN1:Gly592Asp	PROT:P35555	FBN1	G	592	D	G592D	Likely pathogenic	1	1	22	74
MUT:FBN1:Gly601Val	PROT:P35555	FBN1	G	601	V	G601V	Likely pathogenic	1	1	22	65
MUT:FBN1:Gly716Arg	PROT:P35555	FBN1	G	716	R	G716R	Likely pathogenic	1	1	22	31
MUT:FBN1:Gly880Cys	PROT:P35555	FBN1	G	880	C	G880C	Likely pathogenic	1	1	22	24
MUT:FBN1:Gly880Ser	PROT:P35555	FBN1	G	880	S	G880S	Pathogenic/Likely pathogenic	1	2	22	24
MUT:FBN1:Gly884Glu	PROT:P35555	FBN1	G	884	E	G884E	Pathogenic/Likely pathogenic	1	1	22	20
MUT:FBN1:Gly899Glu	PROT:P35555	FBN1	G	899	E	G899E	Likely pathogenic	1	1	22	5
MUT:FBN1:Gly899Trp	PROT:P35555	FBN1	G	899	W	G899W	Likely pathogenic	1	1	22	5
MUT:FBN1:Gly92Arg	PROT:P35555	FBN1	G	92	R	G92R	Likely pathogenic	1	1	22	23
MUT:FBN1:Gly985Arg	PROT:P35555	FBN1	G	985	R	G985R	Pathogenic/Likely pathogenic	1	4	22	32
MUT:FBN1:Gly985Glu	PROT:P35555	FBN1	G	985	E	G985E	Likely pathogenic	1	2	22	32
MUT:FBN1:His23Gln	PROT:P35555	FBN1	H	23	Q	H23Q	Likely benign	0	1	22	92
MUT:FBN1:His2410Pro	PROT:P35555	FBN1	H	2410	P	H2410P	Likely pathogenic	1	1	22	22
MUT:FBN1:His2816Pro	PROT:P35555	FBN1	H	2816	P	H2816P	Likely pathogenic	1	1	22	105
MUT:FBN1:Ile1048Thr	PROT:P35555	FBN1	I	1048	T	I1048T	Pathogenic/Likely pathogenic	1	1	22	2
MUT:FBN1:Ile1076Val	PROT:P35555	FBN1	I	1076	V	I1076V	Likely benign	0	1	22	26
MUT:FBN1:Ile1909Thr	PROT:P35555	FBN1	I	1909	T	I1909T	Pathogenic/Likely pathogenic	1	1	22	315
MUT:FBN1:Ile2118Met	PROT:P35555	FBN1	I	2118	M	I2118M	Pathogenic/Likely pathogenic	1	2	22	106
MUT:FBN1:Ile2269Thr	PROT:P35555	FBN1	I	2269	T	I2269T	Pathogenic/Likely pathogenic	1	4	22	45
MUT:FBN1:Ile2585Thr	PROT:P35555	FBN1	I	2585	T	I2585T	Pathogenic/Likely pathogenic	1	5	22	21
MUT:FBN1:Ile2681Arg	PROT:P35555	FBN1	I	2681	R	I2681R	Likely pathogenic	1	1	22	21
MUT:FBN1:Ile329Thr	PROT:P35555	FBN1	I	329	T	I329T	Benign	0	8	22	214
MUT:FBN1:Ile329Val	PROT:P35555	FBN1	I	329	V	I329V	Likely benign	0	2	22	214
MUT:FBN1:Leu11Arg	PROT:P35555	FBN1	L	11	R	L11R	Pathogenic/Likely pathogenic	1	1	22	104
MUT:FBN1:Leu16Pro	PROT:P35555	FBN1	L	16	P	L16P	Likely pathogenic	1	2	22	99
MUT:FBN1:Leu2671Pro	PROT:P35555	FBN1	L	2671	P	L2671P	Likely pathogenic	1	1	22	31
MUT:FBN1:Lys2261Asn	PROT:P35555	FBN1	K	2261	N	K2261N	Benign/Likely benign	0	1	22	37
MUT:FBN1:Lys2848Gln	PROT:P35555	FBN1	K	2848	Q	K2848Q	Likely benign	0	1	22	137
MUT:FBN1:Met1230Thr	PROT:P35555	FBN1	M	1230	T	M1230T	Likely benign	0	3	22	110
MUT:FBN1:Met1Ile	PROT:P35555	FBN1	M	1	I	M1I	Pathogenic	1	3	22	114
MUT:FBN1:Met1Leu	PROT:P35555	FBN1	M	1	L	M1L	Pathogenic	1	3	22	114
MUT:FBN1:Met1Thr	PROT:P35555	FBN1	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	22	114
MUT:FBN1:Met1Val	PROT:P35555	FBN1	M	1	V	M1V	Pathogenic	1	2	22	114
MUT:FBN1:Met2273Thr	PROT:P35555	FBN1	M	2273	T	M2273T	Likely benign	0	1	22	49
MUT:FBN1:Phe1026Ser	PROT:P35555	FBN1	F	1026	S	F1026S	Benign/Likely benign	0	2	22	9
MUT:FBN1:Phe1346Val	PROT:P35555	FBN1	F	1346	V	F1346V	Pathogenic	1	1	22	1
MUT:FBN1:Phe1912Cys	PROT:P35555	FBN1	F	1912	C	F1912C	Likely pathogenic	1	1	22	312
MUT:FBN1:Phe1954Cys	PROT:P35555	FBN1	F	1954	C	F1954C	Likely pathogenic	1	1	22	270
MUT:FBN1:Phe2188Cys	PROT:P35555	FBN1	F	2188	C	F2188C	Likely pathogenic	1	1	22	36
MUT:FBN1:Pro1090Ser	PROT:P35555	FBN1	P	1090	S	P1090S	Likely pathogenic	1	1	22	13
MUT:FBN1:Pro1141Leu	PROT:P35555	FBN1	P	1141	L	P1141L	Benign	0	8	22	38
MUT:FBN1:Pro1148Ala	PROT:P35555	FBN1	P	1148	A	P1148A	Benign	0	9	22	45
MUT:FBN1:Pro1506Thr	PROT:P35555	FBN1	P	1506	T	P1506T	Likely pathogenic	1	1	22	29
MUT:FBN1:Pro2233Leu	PROT:P35555	FBN1	P	2233	L	P2233L	Pathogenic/Likely pathogenic	1	1	22	9
MUT:FBN1:Pro2278Ser	PROT:P35555	FBN1	P	2278	S	P2278S	Benign/Likely benign	0	8	22	54
MUT:FBN1:Pro785His	PROT:P35555	FBN1	P	785	H	P785H	Likely pathogenic	1	1	22	14
MUT:FBN1:Pro918Arg	PROT:P35555	FBN1	P	918	R	P918R	Benign/Likely benign	0	3	22	14
MUT:FBN1:Ser1050Ile	PROT:P35555	FBN1	S	1050	I	S1050I	Likely pathogenic	1	1	22	0
MUT:FBN1:Ser110Cys	PROT:P35555	FBN1	S	110	C	S110C	Likely pathogenic	1	1	22	5
MUT:FBN1:Ser113Cys	PROT:P35555	FBN1	S	113	C	S113C	Likely pathogenic	1	1	22	2
MUT:FBN1:Ser1565Phe	PROT:P35555	FBN1	S	1565	F	S1565F	Likely pathogenic	1	1	22	30
MUT:FBN1:Ser1750Arg	PROT:P35555	FBN1	S	1750	R	S1750R	Pathogenic	1	1	22	215
MUT:FBN1:Ser2079Cys	PROT:P35555	FBN1	S	2079	C	S2079C	Likely pathogenic	1	1	22	145
MUT:FBN1:Thr1020Ala	PROT:P35555	FBN1	T	1020	A	T1020A	Likely benign	0	3	22	3
MUT:FBN1:Thr1299Met	PROT:P35555	FBN1	T	1299	M	T1299M	Benign/Likely benign	0	7	22	41
MUT:FBN1:Thr1362Ser	PROT:P35555	FBN1	T	1362	S	T1362S	Likely pathogenic	1	1	22	17
MUT:FBN1:Thr1547Ile	PROT:P35555	FBN1	T	1547	I	T1547I	Benign	0	3	22	12
MUT:FBN1:Thr212Pro	PROT:P35555	FBN1	T	212	P	T212P	Likely pathogenic	1	1	22	97
MUT:FBN1:Thr2788Met	PROT:P35555	FBN1	T	2788	M	T2788M	Benign	0	2	22	77
MUT:FBN1:Trp1570Cys	PROT:P35555	FBN1	W	1570	C	W1570C	Pathogenic	1	1	22	35
MUT:FBN1:Trp2092Arg	PROT:P35555	FBN1	W	2092	R	W2092R	Pathogenic/Likely pathogenic	1	2	22	132
MUT:FBN1:Trp217Gly	PROT:P35555	FBN1	W	217	G	W217G	Likely pathogenic	1	1	22	102
MUT:FBN1:Trp366Cys	PROT:P35555	FBN1	W	366	C	W366C	Pathogenic/Likely pathogenic	1	2	22	251
MUT:FBN1:Trp71Arg	PROT:P35555	FBN1	W	71	R	W71R	Pathogenic	1	1	22	44
MUT:FBN1:Trp883Arg	PROT:P35555	FBN1	W	883	R	W883R	Pathogenic	1	1	22	21
MUT:FBN1:Tyr1101Cys	PROT:P35555	FBN1	Y	1101	C	Y1101C	Pathogenic/Likely pathogenic	1	2	22	2
MUT:FBN1:Tyr1178Cys	PROT:P35555	FBN1	Y	1178	C	Y1178C	Likely pathogenic	1	1	22	75
MUT:FBN1:Tyr1186Cys	PROT:P35555	FBN1	Y	1186	C	Y1186C	Pathogenic	1	1	22	83
MUT:FBN1:Tyr1219Cys	PROT:P35555	FBN1	Y	1219	C	Y1219C	Pathogenic/Likely pathogenic	1	2	22	116
MUT:FBN1:Tyr1311Cys	PROT:P35555	FBN1	Y	1311	C	Y1311C	Pathogenic/Likely pathogenic	1	1	22	29
MUT:FBN1:Tyr1387Cys	PROT:P35555	FBN1	Y	1387	C	Y1387C	Likely pathogenic	1	1	22	42
MUT:FBN1:Tyr1427Cys	PROT:P35555	FBN1	Y	1427	C	Y1427C	Likely pathogenic	1	2	22	82
MUT:FBN1:Tyr1509Cys	PROT:P35555	FBN1	Y	1509	C	Y1509C	Likely pathogenic	1	2	22	26
MUT:FBN1:Tyr1696Cys	PROT:P35555	FBN1	Y	1696	C	Y1696C	Pathogenic/Likely pathogenic	1	1	22	161
MUT:FBN1:Tyr1699Cys	PROT:P35555	FBN1	Y	1699	C	Y1699C	Pathogenic	1	2	22	164
MUT:FBN1:Tyr1700Cys	PROT:P35555	FBN1	Y	1700	C	Y1700C	Pathogenic/Likely pathogenic	1	1	22	165
MUT:FBN1:Tyr1962Cys	PROT:P35555	FBN1	Y	1962	C	Y1962C	Likely pathogenic	1	4	22	262
MUT:FBN1:Tyr2149Cys	PROT:P35555	FBN1	Y	2149	C	Y2149C	Pathogenic	1	2	22	75
MUT:FBN1:Tyr2236Cys	PROT:P35555	FBN1	Y	2236	C	Y2236C	Pathogenic/Likely pathogenic	1	3	22	12
MUT:FBN1:Tyr2272Cys	PROT:P35555	FBN1	Y	2272	C	Y2272C	Pathogenic/Likely pathogenic	1	1	22	48
MUT:FBN1:Tyr2474Cys	PROT:P35555	FBN1	Y	2474	C	Y2474C	Likely pathogenic	1	1	22	86
MUT:FBN1:Tyr2596Cys	PROT:P35555	FBN1	Y	2596	C	Y2596C	Pathogenic/Likely pathogenic	1	1	22	32
MUT:FBN1:Tyr2629Cys	PROT:P35555	FBN1	Y	2629	C	Y2629C	Pathogenic	1	1	22	65
MUT:FBN1:Tyr2639Cys	PROT:P35555	FBN1	Y	2639	C	Y2639C	Pathogenic/Likely pathogenic	1	3	22	63
MUT:FBN1:Tyr2661Cys	PROT:P35555	FBN1	Y	2661	C	Y2661C	Pathogenic/Likely pathogenic	1	1	22	41
MUT:FBN1:Tyr2793Cys	PROT:P35555	FBN1	Y	2793	C	Y2793C	Likely pathogenic	1	2	22	82
MUT:FBN1:Tyr519Cys	PROT:P35555	FBN1	Y	519	C	Y519C	Pathogenic	1	2	22	147
MUT:FBN1:Tyr635Cys	PROT:P35555	FBN1	Y	635	C	Y635C	Pathogenic/Likely pathogenic	1	2	22	31
MUT:FBN1:Tyr66Cys	PROT:P35555	FBN1	Y	66	C	Y66C	Likely pathogenic	1	1	22	49
MUT:FBN1:Tyr746Cys	PROT:P35555	FBN1	Y	746	C	Y746C	Pathogenic/Likely pathogenic	1	2	22	1
MUT:FBN1:Tyr754Cys	PROT:P35555	FBN1	Y	754	C	Y754C	Pathogenic	1	3	22	7
MUT:FBN1:Val1756Ala	PROT:P35555	FBN1	V	1756	A	V1756A	Likely pathogenic	1	1	22	221
MUT:FBN1:Val2606Asp	PROT:P35555	FBN1	V	2606	D	V2606D	Likely pathogenic	1	1	22	42
MUT:FBN1:Val444Leu	PROT:P35555	FBN1	V	444	L	V444L	Likely benign	0	1	22	222
MUT:FBN2:Ala1056Ser	PROT:P35556	FBN2	A	1056	S	A1056S	Benign/Likely benign	0	4	10	16
MUT:FBN2:Ala1079Ser	PROT:P35556	FBN2	A	1079	S	A1079S	Likely benign	0	2	10	1
MUT:FBN2:Ala1375Val	PROT:P35556	FBN2	A	1375	V	A1375V	Benign	0	1	10	207
MUT:FBN2:Ala1613Ser	PROT:P35556	FBN2	A	1613	S	A1613S	Likely benign	0	1	10	31
MUT:FBN2:Ala1698Ser	PROT:P35556	FBN2	A	1698	S	A1698S	Benign	0	1	10	76
MUT:FBN2:Ala1865Ser	PROT:P35556	FBN2	A	1865	S	A1865S	Likely benign	0	1	10	91
MUT:FBN2:Ala1880Val	PROT:P35556	FBN2	A	1880	V	A1880V	Likely benign	0	1	10	106
MUT:FBN2:Ala23Pro	PROT:P35556	FBN2	A	23	P	A23P	Benign	0	1	10	688
MUT:FBN2:Ala246Thr	PROT:P35556	FBN2	A	246	T	A246T	Likely benign	0	1	10	465
MUT:FBN2:Ala246Val	PROT:P35556	FBN2	A	246	V	A246V	Likely benign	0	1	10	465
MUT:FBN2:Ala256Val	PROT:P35556	FBN2	A	256	V	A256V	Likely benign	0	1	10	455
MUT:FBN2:Ala2679Thr	PROT:P35556	FBN2	A	2679	T	A2679T	Benign/Likely benign	0	1	10	151
MUT:FBN2:Ala2902Asp	PROT:P35556	FBN2	A	2902	D	A2902D	Likely benign	0	1	10	17
MUT:FBN2:Ala68Val	PROT:P35556	FBN2	A	68	V	A68V	Benign/Likely benign	0	4	10	643
MUT:FBN2:Ala746Thr	PROT:P35556	FBN2	A	746	T	A746T	Likely benign	0	1	10	34
MUT:FBN2:Ala914Ser	PROT:P35556	FBN2	A	914	S	A914S	Likely benign	0	1	10	105
MUT:FBN2:Ala914Thr	PROT:P35556	FBN2	A	914	T	A914T	Likely benign	0	1	10	105
MUT:FBN2:Arg1054Leu	PROT:P35556	FBN2	R	1054	L	R1054L	Likely benign	0	1	10	18
MUT:FBN2:Arg1068Gln	PROT:P35556	FBN2	R	1068	Q	R1068Q	Likely benign	0	1	10	4
MUT:FBN2:Arg1473Cys	PROT:P35556	FBN2	R	1473	C	R1473C	Likely benign	0	1	10	109
MUT:FBN2:Arg1525Gly	PROT:P35556	FBN2	R	1525	G	R1525G	Likely benign	0	1	10	57
MUT:FBN2:Arg1875Cys	PROT:P35556	FBN2	R	1875	C	R1875C	Likely benign	0	1	10	101
MUT:FBN2:Arg2094Gln	PROT:P35556	FBN2	R	2094	Q	R2094Q	Likely benign	0	1	10	320
MUT:FBN2:Arg2169Cys	PROT:P35556	FBN2	R	2169	C	R2169C	Benign	0	1	10	266
MUT:FBN2:Arg2169His	PROT:P35556	FBN2	R	2169	H	R2169H	Likely benign	0	2	10	266
MUT:FBN2:Arg2402Cys	PROT:P35556	FBN2	R	2402	C	R2402C	Likely benign	0	1	10	33
MUT:FBN2:Arg2473Leu	PROT:P35556	FBN2	R	2473	L	R2473L	Likely benign	0	3	10	38
MUT:FBN2:Arg2846His	PROT:P35556	FBN2	R	2846	H	R2846H	Likely benign	0	3	10	39
MUT:FBN2:Arg347His	PROT:P35556	FBN2	R	347	H	R347H	Benign/Likely benign	0	4	10	364
MUT:FBN2:Arg414His	PROT:P35556	FBN2	R	414	H	R414H	Likely benign	0	1	10	297
MUT:FBN2:Arg48Leu	PROT:P35556	FBN2	R	48	L	R48L	Benign/Likely benign	0	3	10	663
MUT:FBN2:Arg4Gly	PROT:P35556	FBN2	R	4	G	R4G	Benign	0	1	10	707
MUT:FBN2:Arg509His	PROT:P35556	FBN2	R	509	H	R509H	Likely benign	0	1	10	202
MUT:FBN2:Arg654Cys	PROT:P35556	FBN2	R	654	C	R654C	Likely benign	0	1	10	57
MUT:FBN2:Arg681His	PROT:P35556	FBN2	R	681	H	R681H	Benign/Likely benign	0	2	10	30
MUT:FBN2:Arg681Leu	PROT:P35556	FBN2	R	681	L	R681L	Likely benign	0	1	10	30
MUT:FBN2:Arg792Cys	PROT:P35556	FBN2	R	792	C	R792C	Likely benign	0	1	10	80
MUT:FBN2:Arg84Pro	PROT:P35556	FBN2	R	84	P	R84P	Likely benign	0	1	10	627
MUT:FBN2:Arg970His	PROT:P35556	FBN2	R	970	H	R970H	Likely benign	0	1	10	49
MUT:FBN2:Arg970Leu	PROT:P35556	FBN2	R	970	L	R970L	Benign	0	1	10	49
MUT:FBN2:Arg993Cys	PROT:P35556	FBN2	R	993	C	R993C	Likely benign	0	1	10	26
MUT:FBN2:Asn1091Tyr	PROT:P35556	FBN2	N	1091	Y	N1091Y	Likely pathogenic	1	1	10	13
MUT:FBN2:Asn1228Ser	PROT:P35556	FBN2	N	1228	S	N1228S	Likely benign	0	1	10	150
MUT:FBN2:Asn1259Lys	PROT:P35556	FBN2	N	1259	K	N1259K	Pathogenic	1	1	10	181
MUT:FBN2:Asn1289Ser	PROT:P35556	FBN2	N	1289	S	N1289S	Likely benign	0	1	10	211
MUT:FBN2:Asn128Asp	PROT:P35556	FBN2	N	128	D	N128D	Likely benign	0	1	10	583
MUT:FBN2:Asn1856Ser	PROT:P35556	FBN2	N	1856	S	N1856S	Likely benign	0	1	10	82
MUT:FBN2:Asn2572Ser	PROT:P35556	FBN2	N	2572	S	N2572S	Benign	0	1	10	44
MUT:FBN2:Asn2660Ser	PROT:P35556	FBN2	N	2660	S	N2660S	Likely benign	0	1	10	132
MUT:FBN2:Asn530Ser	PROT:P35556	FBN2	N	530	S	N530S	Likely benign	0	1	10	181
MUT:FBN2:Asn652Asp	PROT:P35556	FBN2	N	652	D	N652D	Likely benign	0	1	10	59
MUT:FBN2:Asn874Ser	PROT:P35556	FBN2	N	874	S	N874S	Likely benign	0	1	10	145
MUT:FBN2:Asp1115His	PROT:P35556	FBN2	D	1115	H	D1115H	Pathogenic	1	1	10	37
MUT:FBN2:Asp1325Asn	PROT:P35556	FBN2	D	1325	N	D1325N	Likely pathogenic	1	1	10	247
MUT:FBN2:Asp1379Asn	PROT:P35556	FBN2	D	1379	N	D1379N	Benign	0	1	10	203
MUT:FBN2:Asp1408Asn	PROT:P35556	FBN2	D	1408	N	D1408N	Likely pathogenic	1	1	10	174
MUT:FBN2:Asp1410Asn	PROT:P35556	FBN2	D	1410	N	D1410N	Likely benign	0	1	10	172
MUT:FBN2:Asp1561Asn	PROT:P35556	FBN2	D	1561	N	D1561N	Benign	0	1	10	21
MUT:FBN2:Asp2010His	PROT:P35556	FBN2	D	2010	H	D2010H	Pathogenic	1	1	10	236
MUT:FBN2:Asp2138Asn	PROT:P35556	FBN2	D	2138	N	D2138N	Benign	0	1	10	297
MUT:FBN2:Asp2146Gly	PROT:P35556	FBN2	D	2146	G	D2146G	Likely benign	0	1	10	289
MUT:FBN2:Asp2191Asn	PROT:P35556	FBN2	D	2191	N	D2191N	Likely benign	0	1	10	244
MUT:FBN2:Asp2687Asn	PROT:P35556	FBN2	D	2687	N	D2687N	Likely benign	0	1	10	159
MUT:FBN2:Asp2695Gly	PROT:P35556	FBN2	D	2695	G	D2695G	Likely pathogenic	1	1	10	167
MUT:FBN2:Asp2798Asn	PROT:P35556	FBN2	D	2798	N	D2798N	Likely benign	0	1	10	87
MUT:FBN2:Asp2893Asn	PROT:P35556	FBN2	D	2893	N	D2893N	Likely benign	0	1	10	8
MUT:FBN2:Cys1027Arg	PROT:P35556	FBN2	C	1027	R	C1027R	Likely pathogenic	1	1	10	8
MUT:FBN2:Cys1077Tyr	PROT:P35556	FBN2	C	1077	Y	C1077Y	Pathogenic	1	1	10	1
MUT:FBN2:Cys1098Tyr	PROT:P35556	FBN2	C	1098	Y	C1098Y	Likely pathogenic	1	1	10	20
MUT:FBN2:Cys1100Gly	PROT:P35556	FBN2	C	1100	G	C1100G	Pathogenic	1	1	10	22
MUT:FBN2:Cys1100Ser	PROT:P35556	FBN2	C	1100	S	C1100S	Likely pathogenic	1	1	10	22
MUT:FBN2:Cys1142Arg	PROT:P35556	FBN2	C	1142	R	C1142R	Pathogenic	1	1	10	64
MUT:FBN2:Cys1142Gly	PROT:P35556	FBN2	C	1142	G	C1142G	Pathogenic/Likely pathogenic	1	1	10	64
MUT:FBN2:Cys1142Phe	PROT:P35556	FBN2	C	1142	F	C1142F	Pathogenic	1	1	10	64
MUT:FBN2:Cys1142Ser	PROT:P35556	FBN2	C	1142	S	C1142S	Likely pathogenic	1	1	10	64
MUT:FBN2:Cys1142Tyr	PROT:P35556	FBN2	C	1142	Y	C1142Y	Likely pathogenic	1	1	10	64
MUT:FBN2:Cys1156Arg	PROT:P35556	FBN2	C	1156	R	C1156R	Pathogenic/Likely pathogenic	1	2	10	78
MUT:FBN2:Cys1156Phe	PROT:P35556	FBN2	C	1156	F	C1156F	Pathogenic	1	1	10	78
MUT:FBN2:Cys1162Arg	PROT:P35556	FBN2	C	1162	R	C1162R	Pathogenic	1	1	10	84
MUT:FBN2:Cys1162Trp	PROT:P35556	FBN2	C	1162	W	C1162W	Likely pathogenic	1	1	10	84
MUT:FBN2:Cys1169Arg	PROT:P35556	FBN2	C	1169	R	C1169R	Likely pathogenic	1	1	10	91
MUT:FBN2:Cys1169Tyr	PROT:P35556	FBN2	C	1169	Y	C1169Y	Likely pathogenic	1	1	10	91
MUT:FBN2:Cys1174Tyr	PROT:P35556	FBN2	C	1174	Y	C1174Y	Likely pathogenic	1	1	10	96
MUT:FBN2:Cys1183Arg	PROT:P35556	FBN2	C	1183	R	C1183R	Likely pathogenic	1	1	10	105
MUT:FBN2:Cys1183Ser	PROT:P35556	FBN2	C	1183	S	C1183S	Likely pathogenic	1	1	10	105
MUT:FBN2:Cys1185Tyr	PROT:P35556	FBN2	C	1185	Y	C1185Y	Likely pathogenic	1	1	10	107
MUT:FBN2:Cys1198Arg	PROT:P35556	FBN2	C	1198	R	C1198R	Likely pathogenic	1	1	10	120
MUT:FBN2:Cys1198Ser	PROT:P35556	FBN2	C	1198	S	C1198S	Likely pathogenic	1	1	10	120
MUT:FBN2:Cys1198Trp	PROT:P35556	FBN2	C	1198	W	C1198W	Likely pathogenic	1	1	10	120
MUT:FBN2:Cys1225Tyr	PROT:P35556	FBN2	C	1225	Y	C1225Y	Likely pathogenic	1	1	10	147
MUT:FBN2:Cys1240Gly	PROT:P35556	FBN2	C	1240	G	C1240G	Likely pathogenic	1	1	10	162
MUT:FBN2:Cys1240Tyr	PROT:P35556	FBN2	C	1240	Y	C1240Y	Likely pathogenic	1	2	10	162
MUT:FBN2:Cys1246Arg	PROT:P35556	FBN2	C	1246	R	C1246R	Pathogenic	1	2	10	168
MUT:FBN2:Cys1246Gly	PROT:P35556	FBN2	C	1246	G	C1246G	Pathogenic/Likely pathogenic	1	2	10	168
MUT:FBN2:Cys1246Tyr	PROT:P35556	FBN2	C	1246	Y	C1246Y	Likely pathogenic	1	1	10	168
MUT:FBN2:Cys1253Ser	PROT:P35556	FBN2	C	1253	S	C1253S	Likely pathogenic	1	1	10	175
MUT:FBN2:Cys1253Trp	PROT:P35556	FBN2	C	1253	W	C1253W	Pathogenic	1	1	10	175
MUT:FBN2:Cys1253Tyr	PROT:P35556	FBN2	C	1253	Y	C1253Y	Likely pathogenic	1	1	10	175
MUT:FBN2:Cys1257Gly	PROT:P35556	FBN2	C	1257	G	C1257G	Pathogenic	1	1	10	179
MUT:FBN2:Cys1257Tyr	PROT:P35556	FBN2	C	1257	Y	C1257Y	Pathogenic	1	1	10	179
MUT:FBN2:Cys1268Phe	PROT:P35556	FBN2	C	1268	F	C1268F	Likely pathogenic	1	1	10	190
MUT:FBN2:Cys1268Ser	PROT:P35556	FBN2	C	1268	S	C1268S	Pathogenic/Likely pathogenic	1	1	10	190
MUT:FBN2:Cys1310Gly	PROT:P35556	FBN2	C	1310	G	C1310G	Likely pathogenic	1	1	10	232
MUT:FBN2:Cys1323Gly	PROT:P35556	FBN2	C	1323	G	C1323G	Pathogenic	1	1	10	245
MUT:FBN2:Cys1323Phe	PROT:P35556	FBN2	C	1323	F	C1323F	Likely pathogenic	1	1	10	245
MUT:FBN2:Cys1323Ser	PROT:P35556	FBN2	C	1323	S	C1323S	Likely pathogenic	1	1	10	245
MUT:FBN2:Cys1329Tyr	PROT:P35556	FBN2	C	1329	Y	C1329Y	Pathogenic	1	1	10	251
MUT:FBN2:Cys1352Ser	PROT:P35556	FBN2	C	1352	S	C1352S	Likely pathogenic	1	1	10	230
MUT:FBN2:Cys1352Trp	PROT:P35556	FBN2	C	1352	W	C1352W	Likely pathogenic	1	1	10	230
MUT:FBN2:Cys1365Gly	PROT:P35556	FBN2	C	1365	G	C1365G	Likely pathogenic	1	1	10	217
MUT:FBN2:Cys1371Phe	PROT:P35556	FBN2	C	1371	F	C1371F	Likely pathogenic	1	1	10	211
MUT:FBN2:Cys1378Tyr	PROT:P35556	FBN2	C	1378	Y	C1378Y	Pathogenic	1	1	10	204
MUT:FBN2:Cys1393Arg	PROT:P35556	FBN2	C	1393	R	C1393R	Likely pathogenic	1	1	10	189
MUT:FBN2:Cys1395Tyr	PROT:P35556	FBN2	C	1395	Y	C1395Y	Likely pathogenic	1	1	10	187
MUT:FBN2:Cys1406Ser	PROT:P35556	FBN2	C	1406	S	C1406S	Likely pathogenic	1	1	10	176
MUT:FBN2:Cys1425Arg	PROT:P35556	FBN2	C	1425	R	C1425R	Pathogenic	1	1	10	157
MUT:FBN2:Cys1425Phe	PROT:P35556	FBN2	C	1425	F	C1425F	Likely pathogenic	1	1	10	157
MUT:FBN2:Cys1425Tyr	PROT:P35556	FBN2	C	1425	Y	C1425Y	Pathogenic/Likely pathogenic	1	1	10	157
MUT:FBN2:Cys1434Gly	PROT:P35556	FBN2	C	1434	G	C1434G	Likely pathogenic	1	1	10	148
MUT:FBN2:Cys1434Ser	PROT:P35556	FBN2	C	1434	S	C1434S	Likely pathogenic	1	1	10	148
MUT:FBN2:Cys1434Tyr	PROT:P35556	FBN2	C	1434	Y	C1434Y	Likely pathogenic	1	1	10	148
MUT:FBN2:Cys1436Arg	PROT:P35556	FBN2	C	1436	R	C1436R	Pathogenic	1	1	10	146
MUT:FBN2:Cys1447Phe	PROT:P35556	FBN2	C	1447	F	C1447F	Likely pathogenic	1	2	10	135
MUT:FBN2:Cys1447Tyr	PROT:P35556	FBN2	C	1447	Y	C1447Y	Likely pathogenic	1	1	10	135
MUT:FBN2:Cys1489Tyr	PROT:P35556	FBN2	C	1489	Y	C1489Y	Pathogenic	1	1	10	93
MUT:FBN2:Cys1690Arg	PROT:P35556	FBN2	C	1690	R	C1690R	Likely benign	0	1	10	84
MUT:FBN2:Cys2041Tyr	PROT:P35556	FBN2	C	2041	Y	C2041Y	Likely pathogenic	1	1	10	267
MUT:FBN2:Cys2083Phe	PROT:P35556	FBN2	C	2083	F	C2083F	Likely pathogenic	1	1	10	309
MUT:FBN2:Cys795Tyr	PROT:P35556	FBN2	C	795	Y	C795Y	Pathogenic	1	1	10	83
MUT:FBN2:Gln1256Arg	PROT:P35556	FBN2	Q	1256	R	Q1256R	Benign/Likely benign	0	3	10	178
MUT:FBN2:Gln1424Pro	PROT:P35556	FBN2	Q	1424	P	Q1424P	Benign	0	1	10	158
MUT:FBN2:Gln1827His	PROT:P35556	FBN2	Q	1827	H	Q1827H	Benign	0	1	10	53
MUT:FBN2:Gln226Arg	PROT:P35556	FBN2	Q	226	R	Q226R	Likely benign	0	1	10	485
MUT:FBN2:Gln226Glu	PROT:P35556	FBN2	Q	226	E	Q226E	Likely benign	0	1	10	485
MUT:FBN2:Gln2432His	PROT:P35556	FBN2	Q	2432	H	Q2432H	Benign/Likely benign	0	3	10	3
MUT:FBN2:Gln2578His	PROT:P35556	FBN2	Q	2578	H	Q2578H	Benign	0	1	10	50
MUT:FBN2:Gln309Arg	PROT:P35556	FBN2	Q	309	R	Q309R	Likely benign	0	1	10	402
MUT:FBN2:Gln45Pro	PROT:P35556	FBN2	Q	45	P	Q45P	Benign	0	1	10	666
MUT:FBN2:Glu1038Asp	PROT:P35556	FBN2	E	1038	D	E1038D	Likely benign	0	2	10	19
MUT:FBN2:Glu1161Gly	PROT:P35556	FBN2	E	1161	G	E1161G	Likely pathogenic	1	1	10	83
MUT:FBN2:Glu1163Asp	PROT:P35556	FBN2	E	1163	D	E1163D	Likely benign	0	1	10	85
MUT:FBN2:Glu1438Lys	PROT:P35556	FBN2	E	1438	K	E1438K	Benign/Likely benign	0	4	10	144
MUT:FBN2:Glu1475Lys	PROT:P35556	FBN2	E	1475	K	E1475K	Likely benign	0	1	10	107
MUT:FBN2:Glu2052Lys	PROT:P35556	FBN2	E	2052	K	E2052K	Likely benign	0	1	10	278
MUT:FBN2:Glu2714Lys	PROT:P35556	FBN2	E	2714	K	E2714K	Likely benign	0	1	10	171
MUT:FBN2:Glu2753Lys	PROT:P35556	FBN2	E	2753	K	E2753K	Likely benign	0	4	10	132
MUT:FBN2:Glu2783Gln	PROT:P35556	FBN2	E	2783	Q	E2783Q	Benign/Likely benign	0	3	10	102
MUT:FBN2:Glu2888Asp	PROT:P35556	FBN2	E	2888	D	E2888D	Likely benign	0	1	10	3
MUT:FBN2:Glu391Lys	PROT:P35556	FBN2	E	391	K	E391K	Pathogenic	1	1	10	320
MUT:FBN2:Gly1087Arg	PROT:P35556	FBN2	G	1087	R	G1087R	Pathogenic	1	1	10	9
MUT:FBN2:Gly1172Cys	PROT:P35556	FBN2	G	1172	C	G1172C	Likely pathogenic	1	1	10	94
MUT:FBN2:Gly1179Cys	PROT:P35556	FBN2	G	1179	C	G1179C	Pathogenic	1	1	10	101
MUT:FBN2:Gly1271Val	PROT:P35556	FBN2	G	1271	V	G1271V	Likely pathogenic	1	1	10	193
MUT:FBN2:Gly1346Arg	PROT:P35556	FBN2	G	1346	R	G1346R	Likely benign	0	1	10	236
MUT:FBN2:Gly1403Asp	PROT:P35556	FBN2	G	1403	D	G1403D	Likely benign	0	1	10	179
MUT:FBN2:Gly187Ser	PROT:P35556	FBN2	G	187	S	G187S	Likely benign	0	1	10	524
MUT:FBN2:Gly2046Ala	PROT:P35556	FBN2	G	2046	A	G2046A	Likely benign	0	1	10	272
MUT:FBN2:Gly2309Val	PROT:P35556	FBN2	G	2309	V	G2309V	Likely benign	0	1	10	126
MUT:FBN2:Gly2429Arg	PROT:P35556	FBN2	G	2429	R	G2429R	Likely benign	0	1	10	6
MUT:FBN2:Gly2447Arg	PROT:P35556	FBN2	G	2447	R	G2447R	Likely benign	0	1	10	12
MUT:FBN2:Gly2Glu	PROT:P35556	FBN2	G	2	E	G2E	Benign	0	1	10	709
MUT:FBN2:Gly446Ser	PROT:P35556	FBN2	G	446	S	G446S	Benign	0	1	10	265
MUT:FBN2:Gly455Glu	PROT:P35556	FBN2	G	455	E	G455E	Benign	0	1	10	256
MUT:FBN2:Gly475Val	PROT:P35556	FBN2	G	475	V	G475V	Benign/Likely benign	0	1	10	236
MUT:FBN2:Gly480Arg	PROT:P35556	FBN2	G	480	R	G480R	Likely benign	0	1	10	231
MUT:FBN2:Gly531Ala	PROT:P35556	FBN2	G	531	A	G531A	Benign/Likely benign	0	5	10	180
MUT:FBN2:Gly687Asp	PROT:P35556	FBN2	G	687	D	G687D	Likely benign	0	1	10	24
MUT:FBN2:Gly754Ser	PROT:P35556	FBN2	G	754	S	G754S	Benign/Likely benign	0	6	10	42
MUT:FBN2:His1014Pro	PROT:P35556	FBN2	H	1014	P	H1014P	Likely benign	0	3	10	5
MUT:FBN2:His1014Tyr	PROT:P35556	FBN2	H	1014	Y	H1014Y	Likely benign	0	1	10	5
MUT:FBN2:His1699Gln	PROT:P35556	FBN2	H	1699	Q	H1699Q	Likely benign	0	1	10	75
MUT:FBN2:His2303Arg	PROT:P35556	FBN2	H	2303	R	H2303R	Likely benign	0	1	10	132
MUT:FBN2:His2566Gln	PROT:P35556	FBN2	H	2566	Q	H2566Q	Likely benign	0	1	10	38
MUT:FBN2:His2782Tyr	PROT:P35556	FBN2	H	2782	Y	H2782Y	Likely benign	0	2	10	103
MUT:FBN2:His2848Arg	PROT:P35556	FBN2	H	2848	R	H2848R	Likely benign	0	1	10	37
MUT:FBN2:His561Arg	PROT:P35556	FBN2	H	561	R	H561R	Benign	0	1	10	150
MUT:FBN2:His672Tyr	PROT:P35556	FBN2	H	672	Y	H672Y	Likely benign	0	1	10	39
MUT:FBN2:His753Arg	PROT:P35556	FBN2	H	753	R	H753R	Benign	0	1	10	41
MUT:FBN2:Ile137Met	PROT:P35556	FBN2	I	137	M	I137M	Likely benign	0	1	10	574
MUT:FBN2:Ile2219Val	PROT:P35556	FBN2	I	2219	V	I2219V	Benign/Likely benign	0	4	10	216
MUT:FBN2:Ile2281Phe	PROT:P35556	FBN2	I	2281	F	I2281F	Benign/Likely benign	0	2	10	154
MUT:FBN2:Ile2394Thr	PROT:P35556	FBN2	I	2394	T	I2394T	Benign/Likely benign	0	4	10	41
MUT:FBN2:Ile243Thr	PROT:P35556	FBN2	I	243	T	I243T	Benign/Likely benign	0	4	10	468
MUT:FBN2:Ile2490Val	PROT:P35556	FBN2	I	2490	V	I2490V	Likely benign	0	1	10	38
MUT:FBN2:Ile266Val	PROT:P35556	FBN2	I	266	V	I266V	Likely benign	0	1	10	445
MUT:FBN2:Ile2832Asn	PROT:P35556	FBN2	I	2832	N	I2832N	Likely benign	0	1	10	53
MUT:FBN2:Ile998Asn	PROT:P35556	FBN2	I	998	N	I998N	Likely benign	0	1	10	21
MUT:FBN2:Leu1106Val	PROT:P35556	FBN2	L	1106	V	L1106V	Likely benign	0	1	10	28
MUT:FBN2:Leu1385Pro	PROT:P35556	FBN2	L	1385	P	L1385P	Likely pathogenic	1	1	10	197
MUT:FBN2:Leu14Arg	PROT:P35556	FBN2	L	14	R	L14R	Likely benign	0	1	10	697
MUT:FBN2:Leu1591Val	PROT:P35556	FBN2	L	1591	V	L1591V	Likely benign	0	1	10	9
MUT:FBN2:Leu1884Phe	PROT:P35556	FBN2	L	1884	F	L1884F	Likely benign	0	1	10	110
MUT:FBN2:Leu21Phe	PROT:P35556	FBN2	L	21	F	L21F	Benign	0	1	10	690
MUT:FBN2:Leu2204Pro	PROT:P35556	FBN2	L	2204	P	L2204P	Likely benign	0	1	10	231
MUT:FBN2:Leu2204Val	PROT:P35556	FBN2	L	2204	V	L2204V	Likely benign	0	1	10	231
MUT:FBN2:Leu2285Val	PROT:P35556	FBN2	L	2285	V	L2285V	Likely benign	0	1	10	150
MUT:FBN2:Leu2757Gln	PROT:P35556	FBN2	L	2757	Q	L2757Q	Likely benign	0	1	10	128
MUT:FBN2:Leu2863Phe	PROT:P35556	FBN2	L	2863	F	L2863F	Likely benign	0	1	10	22
MUT:FBN2:Leu2899Pro	PROT:P35556	FBN2	L	2899	P	L2899P	Likely benign	0	1	10	14
MUT:FBN2:Lys1883Arg	PROT:P35556	FBN2	K	1883	R	K1883R	Likely benign	0	1	10	109
MUT:FBN2:Lys2528Arg	PROT:P35556	FBN2	K	2528	R	K2528R	Likely benign	0	1	10	0
MUT:FBN2:Lys2778Gln	PROT:P35556	FBN2	K	2778	Q	K2778Q	Benign/Likely benign	0	4	10	107
MUT:FBN2:Lys2806Met	PROT:P35556	FBN2	K	2806	M	K2806M	Likely benign	0	1	10	79
MUT:FBN2:Lys2862Gln	PROT:P35556	FBN2	K	2862	Q	K2862Q	Likely benign	0	1	10	23
MUT:FBN2:Lys2862Thr	PROT:P35556	FBN2	K	2862	T	K2862T	Likely benign	0	2	10	23
MUT:FBN2:Lys2880Arg	PROT:P35556	FBN2	K	2880	R	K2880R	Likely benign	0	1	10	5
MUT:FBN2:Lys36Gln	PROT:P35556	FBN2	K	36	Q	K36Q	Benign	0	1	10	675
MUT:FBN2:Lys587Glu	PROT:P35556	FBN2	K	587	E	K587E	Likely benign	0	1	10	124
MUT:FBN2:Lys895Arg	PROT:P35556	FBN2	K	895	R	K895R	Likely benign	0	3	10	124
MUT:FBN2:Met1219Thr	PROT:P35556	FBN2	M	1219	T	M1219T	Likely benign	0	1	10	141
MUT:FBN2:Met1219Val	PROT:P35556	FBN2	M	1219	V	M1219V	Benign/Likely benign	0	3	10	141
MUT:FBN2:Met1247Thr	PROT:P35556	FBN2	M	1247	T	M1247T	Likely benign	0	3	10	169
MUT:FBN2:Met2311Val	PROT:P35556	FBN2	M	2311	V	M2311V	Benign	0	7	10	124
MUT:FBN2:Phe1670Cys	PROT:P35556	FBN2	F	1670	C	F1670C	Pathogenic	1	1	10	88
MUT:FBN2:Phe1991Leu	PROT:P35556	FBN2	F	1991	L	F1991L	Likely benign	0	1	10	217
MUT:FBN2:Pro1043His	PROT:P35556	FBN2	P	1043	H	P1043H	Likely benign	0	1	10	24
MUT:FBN2:Pro1123Ser	PROT:P35556	FBN2	P	1123	S	P1123S	Likely benign	0	1	10	45
MUT:FBN2:Pro1303Leu	PROT:P35556	FBN2	P	1303	L	P1303L	Likely benign	0	1	10	225
MUT:FBN2:Pro1429Thr	PROT:P35556	FBN2	P	1429	T	P1429T	Likely pathogenic	1	1	10	153
MUT:FBN2:Pro1623Ser	PROT:P35556	FBN2	P	1623	S	P1623S	Likely benign	0	1	10	41
MUT:FBN2:Pro178Leu	PROT:P35556	FBN2	P	178	L	P178L	Likely benign	0	1	10	533
MUT:FBN2:Pro2024His	PROT:P35556	FBN2	P	2024	H	P2024H	Likely benign	0	1	10	250
MUT:FBN2:Pro2085Ala	PROT:P35556	FBN2	P	2085	A	P2085A	Benign/Likely benign	0	3	10	311
MUT:FBN2:Pro2499Thr	PROT:P35556	FBN2	P	2499	T	P2499T	Likely benign	0	1	10	29
MUT:FBN2:Pro260Ala	PROT:P35556	FBN2	P	260	A	P260A	Benign/Likely benign	0	2	10	451
MUT:FBN2:Pro2722Ser	PROT:P35556	FBN2	P	2722	S	P2722S	Likely benign	0	1	10	163
MUT:FBN2:Pro2784Leu	PROT:P35556	FBN2	P	2784	L	P2784L	Benign	0	4	10	101
MUT:FBN2:Pro30Leu	PROT:P35556	FBN2	P	30	L	P30L	Likely benign	0	1	10	681
MUT:FBN2:Pro326Ser	PROT:P35556	FBN2	P	326	S	P326S	Benign/Likely benign	0	4	10	385
MUT:FBN2:Pro32Leu	PROT:P35556	FBN2	P	32	L	P32L	Benign	0	1	10	679
MUT:FBN2:Pro37Ser	PROT:P35556	FBN2	P	37	S	P37S	Likely benign	0	1	10	674
MUT:FBN2:Pro406Ser	PROT:P35556	FBN2	P	406	S	P406S	Likely benign	0	1	10	305
MUT:FBN2:Pro483Ser	PROT:P35556	FBN2	P	483	S	P483S	Likely benign	0	1	10	228
MUT:FBN2:Pro685Thr	PROT:P35556	FBN2	P	685	T	P685T	Likely benign	0	1	10	26
MUT:FBN2:Ser1205Phe	PROT:P35556	FBN2	S	1205	F	S1205F	Likely benign	0	1	10	127
MUT:FBN2:Ser1260Pro	PROT:P35556	FBN2	S	1260	P	S1260P	Likely pathogenic	1	1	10	182
MUT:FBN2:Ser1383Pro	PROT:P35556	FBN2	S	1383	P	S1383P	Likely benign	0	1	10	199
MUT:FBN2:Ser138Leu	PROT:P35556	FBN2	S	138	L	S138L	Likely benign	0	1	10	573
MUT:FBN2:Ser2164Gly	PROT:P35556	FBN2	S	2164	G	S2164G	Benign	0	1	10	271
MUT:FBN2:Ser2401Gly	PROT:P35556	FBN2	S	2401	G	S2401G	Benign	0	1	10	34
MUT:FBN2:Ser2580Leu	PROT:P35556	FBN2	S	2580	L	S2580L	Benign	0	2	10	52
MUT:FBN2:Ser2596Ile	PROT:P35556	FBN2	S	2596	I	S2596I	Benign	0	1	10	68
MUT:FBN2:Ser2700Leu	PROT:P35556	FBN2	S	2700	L	S2700L	Benign	0	1	10	172
MUT:FBN2:Ser2810Thr	PROT:P35556	FBN2	S	2810	T	S2810T	Likely benign	0	2	10	75
MUT:FBN2:Ser2889Arg	PROT:P35556	FBN2	S	2889	R	S2889R	Likely benign	0	1	10	4
MUT:FBN2:Ser340Asn	PROT:P35556	FBN2	S	340	N	S340N	Likely benign	0	1	10	371
MUT:FBN2:Ser340Gly	PROT:P35556	FBN2	S	340	G	S340G	Likely benign	0	1	10	371
MUT:FBN2:Ser429Gly	PROT:P35556	FBN2	S	429	G	S429G	Benign/Likely benign	0	2	10	282
MUT:FBN2:Ser878Leu	PROT:P35556	FBN2	S	878	L	S878L	Likely benign	0	1	10	141
MUT:FBN2:Thr1050Pro	PROT:P35556	FBN2	T	1050	P	T1050P	Benign	0	1	10	22
MUT:FBN2:Thr1173Ser	PROT:P35556	FBN2	T	1173	S	T1173S	Benign/Likely benign	0	3	10	95
MUT:FBN2:Thr1428Ile	PROT:P35556	FBN2	T	1428	I	T1428I	Benign	0	1	10	154
MUT:FBN2:Thr1481Ile	PROT:P35556	FBN2	T	1481	I	T1481I	Likely benign	0	1	10	101
MUT:FBN2:Thr1798Ala	PROT:P35556	FBN2	T	1798	A	T1798A	Likely benign	0	1	10	24
MUT:FBN2:Thr2073Ser	PROT:P35556	FBN2	T	2073	S	T2073S	Benign	0	1	10	299
MUT:FBN2:Thr2430Ala	PROT:P35556	FBN2	T	2430	A	T2430A	Likely benign	0	1	10	5
MUT:FBN2:Thr2591Pro	PROT:P35556	FBN2	T	2591	P	T2591P	Likely benign	0	1	10	63
MUT:FBN2:Thr2787Ala	PROT:P35556	FBN2	T	2787	A	T2787A	Likely benign	0	1	10	98
MUT:FBN2:Thr456Ala	PROT:P35556	FBN2	T	456	A	T456A	Likely benign	0	1	10	255
MUT:FBN2:Thr513Ala	PROT:P35556	FBN2	T	513	A	T513A	Likely benign	0	1	10	198
MUT:FBN2:Thr664Ala	PROT:P35556	FBN2	T	664	A	T664A	Likely benign	0	1	10	47
MUT:FBN2:Thr952Met	PROT:P35556	FBN2	T	952	M	T952M	Benign	0	1	10	67
MUT:FBN2:Tyr1146Cys	PROT:P35556	FBN2	Y	1146	C	Y1146C	Pathogenic/Likely pathogenic	1	1	10	68
MUT:FBN2:Tyr2912His	PROT:P35556	FBN2	Y	2912	H	Y2912H	Likely benign	0	1	10	27
MUT:FBN2:Val1016Ile	PROT:P35556	FBN2	V	1016	I	V1016I	Benign	0	1	10	3
MUT:FBN2:Val1199Met	PROT:P35556	FBN2	V	1199	M	V1199M	Benign	0	1	10	121
MUT:FBN2:Val1426Ile	PROT:P35556	FBN2	V	1426	I	V1426I	Likely benign	0	1	10	156
MUT:FBN2:Val1572Ile	PROT:P35556	FBN2	V	1572	I	V1572I	Likely benign	0	1	10	10
MUT:FBN2:Val1847Leu	PROT:P35556	FBN2	V	1847	L	V1847L	Likely benign	0	1	10	73
MUT:FBN2:Val19Met	PROT:P35556	FBN2	V	19	M	V19M	Likely benign	0	1	10	692
MUT:FBN2:Val20Met	PROT:P35556	FBN2	V	20	M	V20M	Benign	0	1	10	691
MUT:FBN2:Val2115Glu	PROT:P35556	FBN2	V	2115	E	V2115E	Likely benign	0	1	10	320
MUT:FBN2:Val2390Leu	PROT:P35556	FBN2	V	2390	L	V2390L	Likely benign	0	1	10	45
MUT:FBN2:Val2405Ile	PROT:P35556	FBN2	V	2405	I	V2405I	Likely benign	0	1	10	30
MUT:FBN2:Val2751Ile	PROT:P35556	FBN2	V	2751	I	V2751I	Likely benign	0	1	10	134
MUT:FBN2:Val277Ile	PROT:P35556	FBN2	V	277	I	V277I	Benign/Likely benign	0	5	10	434
MUT:FBN2:Val2803Ile	PROT:P35556	FBN2	V	2803	I	V2803I	Benign	0	1	10	82
MUT:FBN2:Val476Ala	PROT:P35556	FBN2	V	476	A	V476A	Likely benign	0	1	10	235
MUT:FBN2:Val592Leu	PROT:P35556	FBN2	V	592	L	V592L	Likely benign	0	1	10	119
MUT:FBN2:Val70Ala	PROT:P35556	FBN2	V	70	A	V70A	Likely benign	0	2	10	641
MUT:FBN2:Val816Ala	PROT:P35556	FBN2	V	816	A	V816A	Benign	0	1	10	104
MUT:FBN2:Val965Ile	PROT:P35556	FBN2	V	965	I	V965I	Benign	0	5	10	54
MUT:FBP1:Ala177Asp	PROT:P09467	FBP1	A	177	D	A177D	Pathogenic	1	1	13	7
MUT:FBP1:Arg158Trp	PROT:P09467	FBP1	R	158	W	R158W	Pathogenic	1	1	13	12
MUT:FBP1:Arg218Lys	PROT:P09467	FBP1	R	218	K	R218K	Benign	0	1	13	2
MUT:FBP1:Asn213Lys	PROT:P09467	FBP1	N	213	K	N213K	Likely pathogenic	1	1	13	3
MUT:FBP1:Asn273Ser	PROT:P09467	FBP1	N	273	S	N273S	Likely benign	0	1	13	8
MUT:FBP1:Asp119Asn	PROT:P09467	FBP1	D	119	N	D119N	Pathogenic/Likely pathogenic	1	1	13	25
MUT:FBP1:Cys117Arg	PROT:P09467	FBP1	C	117	R	C117R	Likely pathogenic	1	1	13	27
MUT:FBP1:Glu281Lys	PROT:P09467	FBP1	E	281	K	E281K	Pathogenic/Likely pathogenic	1	1	13	16
MUT:FBP1:Gly164Ser	PROT:P09467	FBP1	G	164	S	G164S	Pathogenic/Likely pathogenic	1	1	13	6
MUT:FBP1:Gly260Arg	PROT:P09467	FBP1	G	260	R	G260R	Pathogenic/Likely pathogenic	1	2	13	1
MUT:FBP1:Gly294Glu	PROT:P09467	FBP1	G	294	E	G294E	Pathogenic	1	1	13	27
MUT:FBP1:Gly294Val	PROT:P09467	FBP1	G	294	V	G294V	Likely pathogenic	1	1	13	27
MUT:FBP1:Lys334Gln	PROT:P09467	FBP1	K	334	Q	K334Q	Likely benign	0	1	13	4
MUT:FBP1:Met289Leu	PROT:P09467	FBP1	M	289	L	M289L	Benign/Likely benign	0	2	13	24
MUT:FBP1:Phe194Ser	PROT:P09467	FBP1	F	194	S	F194S	Pathogenic	1	1	13	22
MUT:FBP1:Phe233Ile	PROT:P09467	FBP1	F	233	I	F233I	Benign/Likely benign	0	1	13	6
MUT:FBP1:Pro284Arg	PROT:P09467	FBP1	P	284	R	P284R	Pathogenic	1	1	13	19
MUT:FBP1:Val115Gly	PROT:P09467	FBP1	V	115	G	V115G	Likely pathogenic	1	1	13	27
MUT:FBRS:Gly713Ser	PROT:Q9HAH7	FBRS	G	713	S	G713S	Likely pathogenic	1	1	2	380
MUT:FBRS:Pro966Ala	PROT:Q9HAH7	FBRS	P	966	A	P966A	Likely pathogenic	1	1	2	633
MUT:FBRSL1:Arg282His	PROT:Q9HCM7	FBRSL1	R	282	H	R282H	Likely benign	0	1	11	141
MUT:FBRSL1:Gln508Glu	PROT:Q9HCM7	FBRSL1	Q	508	E	Q508E	Likely pathogenic	1	1	11	21
MUT:FBXL3:Cys358Arg	PROT:Q9UKT7	FBXL3	C	358	R	C358R	Pathogenic	1	1	4	110
MUT:FBXO28:Arg348Gly	PROT:Q9NVF7	FBXO28	R	348	G	R348G	Pathogenic	1	1	12	1
MUT:FBXO28:Arg348Leu	PROT:Q9NVF7	FBXO28	R	348	L	R348L	Likely pathogenic	1	2	12	1
MUT:FBXO28:Leu64Arg	PROT:Q9NVF7	FBXO28	L	64	R	L64R	Pathogenic	1	1	12	44
MUT:FBXO28:Pro237Ser	PROT:Q9NVF7	FBXO28	P	237	S	P237S	Likely benign	0	1	12	2
MUT:FBXO43:Gly664Asp	PROT:Q4G163	FBXO43	G	664	D	G664D	Pathogenic	1	1	5	315
MUT:FCRL3:Val363Ile	PROT:Q96P31	FCRL3	V	363	I	V363I	Likely benign	0	1	3	33
MUT:FCRL4:Lys457Arg	PROT:Q96PJ5	FCRL4	K	457	R	K457R	Benign	0	2	3	6
MUT:FCSK:Ala521Thr	PROT:Q8N0W3	FCSK	A	521	T	A521T	Benign	0	1	4	138
MUT:FCSK:Arg901Trp	PROT:Q8N0W3	FCSK	R	901	W	R901W	Benign/Likely benign	0	1	4	93
MUT:FCSK:Arg939Gln	PROT:Q8N0W3	FCSK	R	939	Q	R939Q	Benign	0	1	4	55
MUT:FCSK:Arg939Trp	PROT:Q8N0W3	FCSK	R	939	W	R939W	Likely benign	0	1	4	55
MUT:FCSK:Asn275Ser	PROT:Q8N0W3	FCSK	N	275	S	N275S	Benign/Likely benign	0	1	4	52
MUT:FCSK:Phe228Tyr	PROT:Q8N0W3	FCSK	F	228	Y	F228Y	Benign/Likely benign	0	1	4	5
MUT:FCSK:Pro112Leu	PROT:Q8N0W3	FCSK	P	112	L	P112L	Benign	0	1	4	60
MUT:FCSK:Pro701Leu	PROT:Q8N0W3	FCSK	P	701	L	P701L	Benign	0	1	4	42
MUT:FCSK:Ser962Arg	PROT:Q8N0W3	FCSK	S	962	R	S962R	Benign	0	1	4	32
MUT:FCSK:Thr772Ala	PROT:Q8N0W3	FCSK	T	772	A	T772A	Likely benign	0	1	4	113
MUT:FCSK:Thr914Met	PROT:Q8N0W3	FCSK	T	914	M	T914M	Benign/Likely benign	0	1	4	80
MUT:FCSK:Val146Met	PROT:Q8N0W3	FCSK	V	146	M	V146M	Likely benign	0	6	4	77
MUT:FCSK:Val861Met	PROT:Q8N0W3	FCSK	V	861	M	V861M	Benign	0	1	4	133
MUT:FDFT1:Gln369Arg	PROT:P37268	FDFT1	Q	369	R	Q369R	Likely benign	0	1	7	11
MUT:FDFT1:His417Gln	PROT:P37268	FDFT1	H	417	Q	H417Q	Benign	0	1	7	59
MUT:FDFT1:Lys45Arg	PROT:P37268	FDFT1	K	45	R	K45R	Benign	0	8	7	4
MUT:FDFT1:Phe310Leu	PROT:P37268	FDFT1	F	310	L	F310L	Likely benign	0	1	7	8
MUT:FDFT1:Ser356Cys	PROT:P37268	FDFT1	S	356	C	S356C	Benign	0	1	7	2
MUT:FDFT1:Thr87Ser	PROT:P37268	FDFT1	T	87	S	T87S	Likely benign	0	1	7	28
MUT:FDPS:Arg179Gln	PROT:P14324	FDPS	R	179	Q	R179Q	Pathogenic	1	1	15	8
MUT:FDPS:Arg48Cys	PROT:P14324	FDPS	R	48	C	R48C	Benign	0	1	15	32
MUT:FDPS:Ile120Thr	PROT:P14324	FDPS	I	120	T	I120T	Benign	0	1	15	3
MUT:FDPS:Val364Ala	PROT:P14324	FDPS	V	364	A	V364A	Benign	0	1	15	11
MUT:FEM1B:Arg126Gln	PROT:Q9UK73	FEM1B	R	126	Q	R126Q	Pathogenic	1	1	3	92
MUT:FEM1C:Asp126His	PROT:Q96JP0	FEM1C	D	126	H	D126H	Likely pathogenic	1	1	6	98
MUT:FER1L6:Asp1110Asn	PROT:Q2WGJ9	FER1L6	D	1110	N	D1110N	Benign	0	2	5	368
MUT:FERMT1:Arg255Cys	PROT:Q9BQL6	FERMT1	R	255	C	R255C	Benign	0	1	14	64
MUT:FERMT1:Arg526Lys	PROT:Q9BQL6	FERMT1	R	526	K	R526K	Benign	0	1	14	6
MUT:FERMT1:Arg98His	PROT:Q9BQL6	FERMT1	R	98	H	R98H	Likely benign	0	2	14	71
MUT:FERMT1:Asn156Ser	PROT:Q9BQL6	FERMT1	N	156	S	N156S	Benign	0	3	14	13
MUT:FERMT1:Asn588Asp	PROT:Q9BQL6	FERMT1	N	588	D	N588D	Benign	0	1	14	4
MUT:FERMT1:Ile160Thr	PROT:Q9BQL6	FERMT1	I	160	T	I160T	Benign	0	1	14	9
MUT:FERMT1:Ser400Pro	PROT:Q9BQL6	FERMT1	S	400	P	S400P	Pathogenic	1	1	14	8
MUT:FERMT1:Thr618Ile	PROT:Q9BQL6	FERMT1	T	618	I	T618I	Likely benign	0	1	14	26
MUT:FERMT1:Val241Ala	PROT:Q9BQL6	FERMT1	V	241	A	V241A	Benign	0	1	14	50
MUT:FERMT1:Val543Met	PROT:Q9BQL6	FERMT1	V	543	M	V543M	Likely benign	0	2	14	23
MUT:FES:Met323Val	PROT:P07332	FES	M	323	V	M323V	Benign	0	6	16	62
MUT:FGA:Ala775Thr	PROT:P02671	FGA	A	775	T	A775T	Likely benign	0	1	53	150
MUT:FGA:Arg35Cys	PROT:P02671	FGA	R	35	C	R35C	Pathogenic/Likely pathogenic	1	4	53	10
MUT:FGA:Arg35His	PROT:P02671	FGA	R	35	H	R35H	Pathogenic	1	5	53	10
MUT:FGA:Arg35Pro	PROT:P02671	FGA	R	35	P	R35P	Pathogenic	1	1	53	10
MUT:FGA:Arg35Ser	PROT:P02671	FGA	R	35	S	R35S	Pathogenic	1	1	53	10
MUT:FGA:Arg367His	PROT:P02671	FGA	R	367	H	R367H	Likely benign	0	1	53	2
MUT:FGA:Arg38Gly	PROT:P02671	FGA	R	38	G	R38G	Likely pathogenic	1	3	53	7
MUT:FGA:Arg573Cys	PROT:P02671	FGA	R	573	C	R573C	Likely pathogenic	1	2	53	1
MUT:FGA:Cys491Tyr	PROT:P02671	FGA	C	491	Y	C491Y	Likely pathogenic	1	1	53	2
MUT:FGA:Glu545Val	PROT:P02671	FGA	E	545	V	E545V	Pathogenic/Likely pathogenic	1	2	53	3
MUT:FGA:Glu729Gln	PROT:P02671	FGA	E	729	Q	E729Q	Likely benign	0	1	53	104
MUT:FGA:Gly36Asp	PROT:P02671	FGA	G	36	D	G36D	Likely pathogenic	1	1	53	9
MUT:FGA:Ile6Val	PROT:P02671	FGA	I	6	V	I6V	Benign	0	2	53	16
MUT:FGA:Pro302Ala	PROT:P02671	FGA	P	302	A	P302A	Benign/Likely benign	0	2	53	2
MUT:FGA:Ser400Phe	PROT:P02671	FGA	S	400	F	S400F	Benign/Likely benign	0	2	53	0
MUT:FGA:Thr331Ala	PROT:P02671	FGA	T	331	A	T331A	Benign/Likely benign	0	3	53	25
MUT:FGA:Thr456Ala	PROT:P02671	FGA	T	456	A	T456A	Benign/Likely benign	0	3	53	4
MUT:FGA:Val39Asp	PROT:P02671	FGA	V	39	D	V39D	Pathogenic	1	1	53	6
MUT:FGD1:Ala226Thr	PROT:P98174	FGD1	A	226	T	A226T	Benign/Likely benign	0	2	24	9
MUT:FGD1:Ala37Val	PROT:P98174	FGD1	A	37	V	A37V	Benign	0	1	24	11
MUT:FGD1:Ala44Val	PROT:P98174	FGD1	A	44	V	A44V	Likely benign	0	1	24	4
MUT:FGD1:Ala6Asp	PROT:P98174	FGD1	A	6	D	A6D	Likely benign	0	1	24	42
MUT:FGD1:Ala6Val	PROT:P98174	FGD1	A	6	V	A6V	Likely benign	0	1	24	42
MUT:FGD1:Arg132Gln	PROT:P98174	FGD1	R	132	Q	R132Q	Benign/Likely benign	0	3	24	3
MUT:FGD1:Arg402Trp	PROT:P98174	FGD1	R	402	W	R402W	Pathogenic	1	1	24	37
MUT:FGD1:Arg443Cys	PROT:P98174	FGD1	R	443	C	R443C	Pathogenic	1	1	24	78
MUT:FGD1:Arg443Leu	PROT:P98174	FGD1	R	443	L	R443L	Pathogenic	1	1	24	78
MUT:FGD1:Arg449Cys	PROT:P98174	FGD1	R	449	C	R449C	Likely benign	0	1	24	84
MUT:FGD1:Arg519Cys	PROT:P98174	FGD1	R	519	C	R519C	Likely pathogenic	1	2	24	23
MUT:FGD1:Arg522His	PROT:P98174	FGD1	R	522	H	R522H	Pathogenic/Likely pathogenic	1	1	24	20
MUT:FGD1:Arg610Gln	PROT:P98174	FGD1	R	610	Q	R610Q	Pathogenic	1	1	24	39
MUT:FGD1:Arg806His	PROT:P98174	FGD1	R	806	H	R806H	Likely benign	0	1	24	3
MUT:FGD1:Arg910Gln	PROT:P98174	FGD1	R	910	Q	R910Q	Benign	0	1	24	94
MUT:FGD1:Asp326Asn	PROT:P98174	FGD1	D	326	N	D326N	Likely benign	0	1	24	39
MUT:FGD1:Met466Val	PROT:P98174	FGD1	M	466	V	M466V	Pathogenic	1	1	24	76
MUT:FGD1:Pro174Arg	PROT:P98174	FGD1	P	174	R	P174R	Likely benign	0	1	24	25
MUT:FGD1:Pro176Leu	PROT:P98174	FGD1	P	176	L	P176L	Benign/Likely benign	0	1	24	27
MUT:FGD1:Pro927Leu	PROT:P98174	FGD1	P	927	L	P927L	Likely benign	0	1	24	111
MUT:FGD1:Pro941Ser	PROT:P98174	FGD1	P	941	S	P941S	Benign/Likely benign	0	1	24	125
MUT:FGD1:Ser365Pro	PROT:P98174	FGD1	S	365	P	S365P	Likely benign	0	1	24	0
MUT:FGD1:Thr673Ala	PROT:P98174	FGD1	T	673	A	T673A	Likely pathogenic	1	1	24	10
MUT:FGD1:Val389Ile	PROT:P98174	FGD1	V	389	I	V389I	Likely pathogenic	1	1	24	24
MUT:FGD4:Asp282Glu	PROT:Q96M96	FGD4	D	282	E	D282E	Benign	0	4	14	73
MUT:FGD4:Ile14Met	PROT:Q96M96	FGD4	I	14	M	I14M	Benign	0	1	14	22
MUT:FGD4:Ile298Val	PROT:Q96M96	FGD4	I	298	V	I298V	Likely benign	0	1	14	57
MUT:FGD4:Met435Arg	PROT:Q96M96	FGD4	M	435	R	M435R	Pathogenic	1	3	14	28
MUT:FGD4:Pro187Ser	PROT:Q96M96	FGD4	P	187	S	P187S	Likely benign	0	1	14	1
MUT:FGD4:Pro708Thr	PROT:Q96M96	FGD4	P	708	T	P708T	Benign/Likely benign	0	4	14	6
MUT:FGD4:Thr216Ile	PROT:Q96M96	FGD4	T	216	I	T216I	Benign/Likely benign	0	4	14	30
MUT:FGD4:Val359Ile	PROT:Q96M96	FGD4	V	359	I	V359I	Benign/Likely benign	0	2	14	4
MUT:FGF8:Ala106Glu	PROT:P55075	FGF8	A	106	E	A106E	Likely pathogenic	1	1	1	66
MUT:FGF8:Ala169Val	PROT:P55075	FGF8	A	169	V	A169V	Likely benign	0	1	1	3
MUT:FGF8:Arg127Gly	PROT:P55075	FGF8	R	127	G	R127G	Pathogenic	1	1	1	45
MUT:FGF8:Arg206Gln	PROT:P55075	FGF8	R	206	Q	R206Q	Likely pathogenic	1	1	1	34
MUT:FGF8:Arg28Ser	PROT:P55075	FGF8	R	28	S	R28S	Likely benign	0	1	1	144
MUT:FGF8:His14Asn	PROT:P55075	FGF8	H	14	N	H14N	Pathogenic	1	1	1	158
MUT:FGF8:Leu97Pro	PROT:P55075	FGF8	L	97	P	L97P	Likely pathogenic	1	1	1	75
MUT:FGF8:Lys100Glu	PROT:P55075	FGF8	K	100	E	K100E	Pathogenic	1	1	1	72
MUT:FGF8:Phe40Leu	PROT:P55075	FGF8	F	40	L	F40L	Pathogenic	1	1	1	132
MUT:FGF8:Thr119Met	PROT:P55075	FGF8	T	119	M	T119M	Likely pathogenic	1	3	1	53
MUT:FGF8:Val157Phe	PROT:P55075	FGF8	V	157	F	V157F	Likely pathogenic	1	1	1	15
MUT:FGF8:Val53Leu	PROT:P55075	FGF8	V	53	L	V53L	Likely pathogenic	1	1	1	119
MUT:FGFR4:Ala404Pro	PROT:P22455	FGFR4	A	404	P	A404P	Likely benign	0	1	16	4
MUT:FGFR4:Gly388Arg	PROT:P22455	FGFR4	G	388	R	G388R	Benign	0	2	16	2
MUT:FGFR4:Pro136Leu	PROT:P22455	FGFR4	P	136	L	P136L	Likely benign	0	2	16	96
MUT:FGFR4:Thr179Ala	PROT:P22455	FGFR4	T	179	A	T179A	Benign	0	1	16	53
MUT:FGFR4:Val10Ile	PROT:P22455	FGFR4	V	10	I	V10I	Benign	0	1	16	222
MUT:FHIP2B:Gly439Arg	PROT:Q86V87	FHIP2B	G	439	R	G439R	Likely benign	0	1	4	114
MUT:FHIT:Pro101Ser	PROT:P49789	FHIT	P	101	S	P101S	Likely benign	0	1	3	11
MUT:FHL1:Arg111Trp	PROT:Q13642	FHL1	R	111	W	R111W	Benign/Likely benign	0	2	10	5
MUT:FHL1:Asp291Asn	PROT:Q13642	FHL1	D	291	N	D291N	Benign	0	1	10	62
MUT:FHL1:Cys117Arg	PROT:Q13642	FHL1	C	117	R	C117R	Pathogenic	1	1	10	0
MUT:FHL1:Cys120Arg	PROT:Q13642	FHL1	C	120	R	C120R	Pathogenic	1	1	10	2
MUT:FHL1:Cys148Phe	PROT:Q13642	FHL1	C	148	F	C148F	Pathogenic	1	2	10	1
MUT:FHL1:Cys166Arg	PROT:Q13642	FHL1	C	166	R	C166R	Pathogenic/Likely pathogenic	1	1	10	17
MUT:FHL1:Cys166Trp	PROT:Q13642	FHL1	C	166	W	C166W	Likely pathogenic	1	1	10	17
MUT:FHL1:Cys166Tyr	PROT:Q13642	FHL1	C	166	Y	C166Y	Pathogenic	1	2	10	17
MUT:FHL1:Cys169Arg	PROT:Q13642	FHL1	C	169	R	C169R	Pathogenic/Likely pathogenic	1	3	10	20
MUT:FHL1:Cys169Phe	PROT:Q13642	FHL1	C	169	F	C169F	Likely pathogenic	1	1	10	20
MUT:FHL1:Cys169Ser	PROT:Q13642	FHL1	C	169	S	C169S	Pathogenic	1	1	10	20
MUT:FHL1:Cys169Trp	PROT:Q13642	FHL1	C	169	W	C169W	Pathogenic	1	1	10	20
MUT:FHL1:Cys169Tyr	PROT:Q13642	FHL1	C	169	Y	C169Y	Likely pathogenic	1	2	10	20
MUT:FHL1:Cys225Arg	PROT:Q13642	FHL1	C	225	R	C225R	Pathogenic	1	2	10	4
MUT:FHL1:Cys237Tyr	PROT:Q13642	FHL1	C	237	Y	C237Y	Likely pathogenic	1	1	10	8
MUT:FHL1:Cys240Trp	PROT:Q13642	FHL1	C	240	W	C240W	Pathogenic/Likely pathogenic	1	1	10	11
MUT:FHL1:Cys292Ser	PROT:Q13642	FHL1	C	292	S	C292S	Likely pathogenic	1	1	10	63
MUT:FHL1:Cys292Tyr	PROT:Q13642	FHL1	C	292	Y	C292Y	Pathogenic	1	1	10	63
MUT:FHL1:His139Arg	PROT:Q13642	FHL1	H	139	R	H139R	Pathogenic	1	1	10	6
MUT:FHL1:His139Gln	PROT:Q13642	FHL1	H	139	Q	H139Q	Pathogenic	1	2	10	6
MUT:FHL1:His139Leu	PROT:Q13642	FHL1	H	139	L	H139L	Pathogenic	1	1	10	6
MUT:FHL1:His139Tyr	PROT:Q13642	FHL1	H	139	Y	H139Y	Pathogenic	1	3	10	6
MUT:FHL1:Met17Thr	PROT:Q13642	FHL1	M	17	T	M17T	Likely pathogenic	1	1	10	89
MUT:FHL1:Pro240Ser	PROT:Q13642	FHL1	P	240	S	P240S	Likely benign	0	1	10	11
MUT:FHL1:Trp138Ser	PROT:Q13642	FHL1	W	138	S	W138S	Pathogenic	1	2	10	5
MUT:FHL1:Val280Met	PROT:Q13642	FHL1	V	280	M	V280M	Pathogenic	1	1	10	51
MUT:FHOD3:Ala68Thr	PROT:Q2V2M9	FHOD3	A	68	T	A68T	Likely benign	0	1	18	281
MUT:FHOD3:Ala765Val	PROT:Q2V2M9	FHOD3	A	765	V	A765V	Likely benign	0	1	18	2
MUT:FHOD3:Arg497Trp	PROT:Q2V2M9	FHOD3	R	497	W	R497W	Likely benign	0	1	18	52
MUT:FHOD3:Arg637Gln	PROT:Q2V2M9	FHOD3	R	637	Q	R637Q	Likely benign	0	2	18	124
MUT:FHOD3:Glu415Lys	PROT:Q2V2M9	FHOD3	E	415	K	E415K	Likely benign	0	1	18	7
MUT:FHOD3:Glu754Lys	PROT:Q2V2M9	FHOD3	E	754	K	E754K	Likely benign	0	1	18	7
MUT:FHOD3:Ile954Val	PROT:Q2V2M9	FHOD3	I	954	V	I954V	Likely benign	0	1	18	179
MUT:FHOD3:Pro335Arg	PROT:Q2V2M9	FHOD3	P	335	R	P335R	Likely benign	0	1	18	14
MUT:FHOD3:Pro848Ser	PROT:Q2V2M9	FHOD3	P	848	S	P848S	Likely benign	0	1	18	73
MUT:FHOD3:Pro972Leu	PROT:Q2V2M9	FHOD3	P	972	L	P972L	Likely benign	0	1	18	197
MUT:FHOD3:Tyr528Cys	PROT:Q2V2M9	FHOD3	Y	528	C	Y528C	Pathogenic/Likely pathogenic	1	1	18	83
MUT:FHOD3:Val1326Ile	PROT:Q2V2M9	FHOD3	V	1326	I	V1326I	Benign	0	1	18	8
MUT:FHOD3:Val1570Ile	PROT:Q2V2M9	FHOD3	V	1570	I	V1570I	Likely benign	0	1	18	171
MUT:FHOD3:Val822Phe	PROT:Q2V2M9	FHOD3	V	822	F	V822F	Benign/Likely benign	0	14	18	47
MUT:FILIP1:Gly1106Arg	PROT:Q7Z7B0	FILIP1	G	1106	R	G1106R	Benign	0	1	13	5
MUT:FILIP1:Lys495Glu	PROT:Q7Z7B0	FILIP1	K	495	E	K495E	Likely benign	0	1	13	124
MUT:FILIP1:Pro1133Leu	PROT:Q7Z7B0	FILIP1	P	1133	L	P1133L	Pathogenic	1	1	13	22
MUT:FILIP1L:Arg168His	PROT:Q4L180	FILIP1L	R	168	H	R168H	Benign	0	1	13	158
MUT:FILIP1L:Gln214Glu	PROT:Q4L180	FILIP1L	Q	214	E	Q214E	Benign	0	1	13	112
MUT:FKBPL:Ala90Thr	PROT:Q9UIM3	FKBPL	A	90	T	A90T	Benign	0	1	4	16
MUT:FKBPL:Asn28Ser	PROT:Q9UIM3	FKBPL	N	28	S	N28S	Benign	0	1	4	25
MUT:FKBPL:Thr46Arg	PROT:Q9UIM3	FKBPL	T	46	R	T46R	Likely benign	0	1	4	43
MUT:FLG2:Cys298Ser	PROT:Q5D862	FLG2	C	298	S	C298S	Benign	0	1	6	33
MUT:FLG2:Phe946Ser	PROT:Q5D862	FLG2	F	946	S	F946S	Benign/Likely benign	0	1	6	633
MUT:FLG:Ala1010Thr	PROT:P20930	FLG	A	1010	T	A1010T	Likely benign	0	1	17	104
MUT:FLG:Ala1157Val	PROT:P20930	FLG	A	1157	V	A1157V	Likely benign	0	1	17	43
MUT:FLG:Ala1167Gly	PROT:P20930	FLG	A	1167	G	A1167G	Benign	0	1	17	53
MUT:FLG:Ala1317Val	PROT:P20930	FLG	A	1317	V	A1317V	Likely benign	0	1	17	203
MUT:FLG:Ala1778Thr	PROT:P20930	FLG	A	1778	T	A1778T	Likely benign	0	1	17	116
MUT:FLG:Ala1805Val	PROT:P20930	FLG	A	1805	V	A1805V	Benign	0	1	17	89
MUT:FLG:Ala2108Val	PROT:P20930	FLG	A	2108	V	A2108V	Benign	0	1	17	95
MUT:FLG:Ala2326Pro	PROT:P20930	FLG	A	2326	P	A2326P	Likely benign	0	1	17	188
MUT:FLG:Ala3033Gly	PROT:P20930	FLG	A	3033	G	A3033G	Likely benign	0	1	17	115
MUT:FLG:Ala3279Thr	PROT:P20930	FLG	A	3279	T	A3279T	Likely benign	0	2	17	210
MUT:FLG:Ala3527Glu	PROT:P20930	FLG	A	3527	E	A3527E	Benign	0	1	17	38
MUT:FLG:Ala361Thr	PROT:P20930	FLG	A	361	T	A361T	Likely benign	0	1	17	66
MUT:FLG:Ala3622Pro	PROT:P20930	FLG	A	3622	P	A3622P	Likely benign	0	1	17	133
MUT:FLG:Ala3681Gly	PROT:P20930	FLG	A	3681	G	A3681G	Likely benign	0	1	17	192
MUT:FLG:Ala974Val	PROT:P20930	FLG	A	974	V	A974V	Likely benign	0	1	17	140
MUT:FLG:Arg1172Ser	PROT:P20930	FLG	R	1172	S	R1172S	Likely benign	0	1	17	58
MUT:FLG:Arg1187Ser	PROT:P20930	FLG	R	1187	S	R1187S	Likely benign	0	1	17	73
MUT:FLG:Arg1236His	PROT:P20930	FLG	R	1236	H	R1236H	Likely benign	0	1	17	122
MUT:FLG:Arg1360His	PROT:P20930	FLG	R	1360	H	R1360H	Benign	0	1	17	246
MUT:FLG:Arg1376Gly	PROT:P20930	FLG	R	1376	G	R1376G	Benign	0	1	17	262
MUT:FLG:Arg1388Gln	PROT:P20930	FLG	R	1388	Q	R1388Q	Likely benign	0	1	17	274
MUT:FLG:Arg1560Cys	PROT:P20930	FLG	R	1560	C	R1560C	Benign/Likely benign	0	1	17	334
MUT:FLG:Arg1589His	PROT:P20930	FLG	R	1589	H	R1589H	Likely benign	0	1	17	305
MUT:FLG:Arg1684His	PROT:P20930	FLG	R	1684	H	R1684H	Benign	0	1	17	210
MUT:FLG:Arg1699Cys	PROT:P20930	FLG	R	1699	C	R1699C	Benign	0	1	17	195
MUT:FLG:Arg1712Gln	PROT:P20930	FLG	R	1712	Q	R1712Q	Likely benign	0	1	17	182
MUT:FLG:Arg1752His	PROT:P20930	FLG	R	1752	H	R1752H	Likely benign	0	1	17	142
MUT:FLG:Arg1814His	PROT:P20930	FLG	R	1814	H	R1814H	Likely benign	0	1	17	80
MUT:FLG:Arg1891Gln	PROT:P20930	FLG	R	1891	Q	R1891Q	Benign	0	3	17	3
MUT:FLG:Arg1980His	PROT:P20930	FLG	R	1980	H	R1980H	Likely benign	0	1	17	33
MUT:FLG:Arg2077His	PROT:P20930	FLG	R	2077	H	R2077H	Likely benign	0	1	17	64
MUT:FLG:Arg2086His	PROT:P20930	FLG	R	2086	H	R2086H	Likely benign	0	1	17	73
MUT:FLG:Arg2139His	PROT:P20930	FLG	R	2139	H	R2139H	Likely benign	0	1	17	126
MUT:FLG:Arg2160Ser	PROT:P20930	FLG	R	2160	S	R2160S	Likely benign	0	1	17	147
MUT:FLG:Arg2181His	PROT:P20930	FLG	R	2181	H	R2181H	Likely benign	0	1	17	168
MUT:FLG:Arg2401His	PROT:P20930	FLG	R	2401	H	R2401H	Likely benign	0	1	17	113
MUT:FLG:Arg2403Gln	PROT:P20930	FLG	R	2403	Q	R2403Q	Likely benign	0	1	17	111
MUT:FLG:Arg2533His	PROT:P20930	FLG	R	2533	H	R2533H	Likely benign	0	1	17	16
MUT:FLG:Arg2629His	PROT:P20930	FLG	R	2629	H	R2629H	Likely benign	0	1	17	35
MUT:FLG:Arg2685Gln	PROT:P20930	FLG	R	2685	Q	R2685Q	Likely benign	0	1	17	91
MUT:FLG:Arg2725His	PROT:P20930	FLG	R	2725	H	R2725H	Likely benign	0	1	17	131
MUT:FLG:Arg2727Gln	PROT:P20930	FLG	R	2727	Q	R2727Q	Likely benign	0	1	17	133
MUT:FLG:Arg2883Thr	PROT:P20930	FLG	R	2883	T	R2883T	Likely benign	0	1	17	35
MUT:FLG:Arg2931Gly	PROT:P20930	FLG	R	2931	G	R2931G	Likely benign	0	1	17	13
MUT:FLG:Arg3009Gln	PROT:P20930	FLG	R	3009	Q	R3009Q	Likely benign	0	1	17	91
MUT:FLG:Arg3051Gln	PROT:P20930	FLG	R	3051	Q	R3051Q	Likely benign	0	1	17	133
MUT:FLG:Arg3051Trp	PROT:P20930	FLG	R	3051	W	R3051W	Likely benign	0	1	17	133
MUT:FLG:Arg3090His	PROT:P20930	FLG	R	3090	H	R3090H	Likely benign	0	1	17	172
MUT:FLG:Arg3111His	PROT:P20930	FLG	R	3111	H	R3111H	Likely benign	0	1	17	193
MUT:FLG:Arg3153His	PROT:P20930	FLG	R	3153	H	R3153H	Likely benign	0	1	17	235
MUT:FLG:Arg3207Thr	PROT:P20930	FLG	R	3207	T	R3207T	Likely benign	0	1	17	282
MUT:FLG:Arg3255Gly	PROT:P20930	FLG	R	3255	G	R3255G	Likely benign	0	1	17	234
MUT:FLG:Arg3435His	PROT:P20930	FLG	R	3435	H	R3435H	Likely benign	0	1	17	54
MUT:FLG:Arg3456Ser	PROT:P20930	FLG	R	3456	S	R3456S	Likely benign	0	1	17	33
MUT:FLG:Arg3477His	PROT:P20930	FLG	R	3477	H	R3477H	Likely benign	0	1	17	12
MUT:FLG:Arg3697His	PROT:P20930	FLG	R	3697	H	R3697H	Likely benign	0	1	17	208
MUT:FLG:Arg3706His	PROT:P20930	FLG	R	3706	H	R3706H	Likely benign	0	1	17	209
MUT:FLG:Arg3738His	PROT:P20930	FLG	R	3738	H	R3738H	Benign	0	1	17	177
MUT:FLG:Arg3879Gln	PROT:P20930	FLG	R	3879	Q	R3879Q	Likely benign	0	1	17	36
MUT:FLG:Arg3907His	PROT:P20930	FLG	R	3907	H	R3907H	Likely benign	0	1	17	8
MUT:FLG:Arg412His	PROT:P20930	FLG	R	412	H	R412H	Likely benign	0	1	17	117
MUT:FLG:Arg457Gln	PROT:P20930	FLG	R	457	Q	R457Q	Likely benign	0	1	17	162
MUT:FLG:Arg464His	PROT:P20930	FLG	R	464	H	R464H	Likely benign	0	1	17	169
MUT:FLG:Arg517His	PROT:P20930	FLG	R	517	H	R517H	Likely benign	0	1	17	199
MUT:FLG:Arg538Ser	PROT:P20930	FLG	R	538	S	R538S	Likely benign	0	1	17	178
MUT:FLG:Arg587His	PROT:P20930	FLG	R	587	H	R587H	Likely benign	0	1	17	129
MUT:FLG:Arg782Gln	PROT:P20930	FLG	R	782	Q	R782Q	Likely benign	0	1	17	66
MUT:FLG:Arg789His	PROT:P20930	FLG	R	789	H	R789H	Likely benign	0	1	17	73
MUT:FLG:Arg863Ser	PROT:P20930	FLG	R	863	S	R863S	Likely benign	0	1	17	147
MUT:FLG:Arg986Gly	PROT:P20930	FLG	R	986	G	R986G	Likely benign	0	1	17	128
MUT:FLG:Asn132Ser	PROT:P20930	FLG	N	132	S	N132S	Likely benign	0	1	17	5
MUT:FLG:Asn2309Thr	PROT:P20930	FLG	N	2309	T	N2309T	Likely benign	0	1	17	205
MUT:FLG:Asn2695Ser	PROT:P20930	FLG	N	2695	S	N2695S	Likely benign	0	1	17	101
MUT:FLG:Asn3019Ser	PROT:P20930	FLG	N	3019	S	N3019S	Likely benign	0	1	17	101
MUT:FLG:Asn828Ser	PROT:P20930	FLG	N	828	S	N828S	Likely benign	0	1	17	112
MUT:FLG:Asp1092Ala	PROT:P20930	FLG	D	1092	A	D1092A	Likely benign	0	1	17	22
MUT:FLG:Asp2218Asn	PROT:P20930	FLG	D	2218	N	D2218N	Likely benign	0	1	17	205
MUT:FLG:Asp2277His	PROT:P20930	FLG	D	2277	H	D2277H	Likely benign	0	1	17	237
MUT:FLG:Asp2339Asn	PROT:P20930	FLG	D	2339	N	D2339N	Benign	0	1	17	175
MUT:FLG:Asp2520Glu	PROT:P20930	FLG	D	2520	E	D2520E	Likely benign	0	1	17	3
MUT:FLG:Asp2866Val	PROT:P20930	FLG	D	2866	V	D2866V	Likely benign	0	2	17	52
MUT:FLG:Asp2936Gly	PROT:P20930	FLG	D	2936	G	D2936G	Benign	0	1	17	18
MUT:FLG:Asp3220His	PROT:P20930	FLG	D	3220	H	D3220H	Benign	0	1	17	269
MUT:FLG:Asp3374Gly	PROT:P20930	FLG	D	3374	G	D3374G	Likely benign	0	1	17	115
MUT:FLG:Asp3635Asn	PROT:P20930	FLG	D	3635	N	D3635N	Benign	0	1	17	146
MUT:FLG:Asp50Gly	PROT:P20930	FLG	D	50	G	D50G	Benign	0	1	17	77
MUT:FLG:Gln1097His	PROT:P20930	FLG	Q	1097	H	Q1097H	Likely benign	0	1	17	17
MUT:FLG:Gln1313His	PROT:P20930	FLG	Q	1313	H	Q1313H	Likely benign	0	1	17	199
MUT:FLG:Gln1670His	PROT:P20930	FLG	Q	1670	H	Q1670H	Likely benign	0	1	17	224
MUT:FLG:Gln1925Glu	PROT:P20930	FLG	Q	1925	E	Q1925E	Likely benign	0	1	17	30
MUT:FLG:Gln2062His	PROT:P20930	FLG	Q	2062	H	Q2062H	Likely benign	0	1	17	49
MUT:FLG:Gln2106Arg	PROT:P20930	FLG	Q	2106	R	Q2106R	Likely benign	0	1	17	93
MUT:FLG:Gln2154His	PROT:P20930	FLG	Q	2154	H	Q2154H	Benign	0	1	17	141
MUT:FLG:Gln229Glu	PROT:P20930	FLG	Q	229	E	Q229E	Likely benign	0	1	17	7
MUT:FLG:Gln2610His	PROT:P20930	FLG	Q	2610	H	Q2610H	Likely benign	0	1	17	16
MUT:FLG:Gln2956Glu	PROT:P20930	FLG	Q	2956	E	Q2956E	Likely benign	0	1	17	38
MUT:FLG:Gln3095Arg	PROT:P20930	FLG	Q	3095	R	Q3095R	Likely benign	0	1	17	177
MUT:FLG:Gln3535Arg	PROT:P20930	FLG	Q	3535	R	Q3535R	Likely benign	0	1	17	46
MUT:FLG:Gln686Glu	PROT:P20930	FLG	Q	686	E	Q686E	Likely benign	0	1	17	30
MUT:FLG:Gln760His	PROT:P20930	FLG	Q	760	H	Q760H	Benign	0	1	17	44
MUT:FLG:Glu1255Gly	PROT:P20930	FLG	E	1255	G	E1255G	Likely benign	0	1	17	141
MUT:FLG:Glu1728Asp	PROT:P20930	FLG	E	1728	D	E1728D	Likely benign	0	1	17	166
MUT:FLG:Glu2398Gln	PROT:P20930	FLG	E	2398	Q	E2398Q	Benign	0	1	17	116
MUT:FLG:Glu2555Ala	PROT:P20930	FLG	E	2555	A	E2555A	Likely benign	0	1	17	38
MUT:FLG:Glu3349Asp	PROT:P20930	FLG	E	3349	D	E3349D	Likely benign	0	1	17	140
MUT:FLG:Glu3593Asp	PROT:P20930	FLG	E	3593	D	E3593D	Benign	0	1	17	104
MUT:FLG:Glu3812Gln	PROT:P20930	FLG	E	3812	Q	E3812Q	Likely benign	0	1	17	103
MUT:FLG:Glu498Asp	PROT:P20930	FLG	E	498	D	E498D	Likely benign	0	1	17	203
MUT:FLG:Glu755Lys	PROT:P20930	FLG	E	755	K	E755K	Benign	0	1	17	39
MUT:FLG:Glu953Gln	PROT:P20930	FLG	E	953	Q	E953Q	Benign	0	1	17	161
MUT:FLG:Gly1015Arg	PROT:P20930	FLG	G	1015	R	G1015R	Likely benign	0	1	17	99
MUT:FLG:Gly1707Arg	PROT:P20930	FLG	G	1707	R	G1707R	Likely benign	0	1	17	187
MUT:FLG:Gly1738Arg	PROT:P20930	FLG	G	1738	R	G1738R	Likely benign	0	1	17	156
MUT:FLG:Gly1787Arg	PROT:P20930	FLG	G	1787	R	G1787R	Likely benign	0	1	17	107
MUT:FLG:Gly1936Glu	PROT:P20930	FLG	G	1936	E	G1936E	Likely benign	0	1	17	41
MUT:FLG:Gly2063Arg	PROT:P20930	FLG	G	2063	R	G2063R	Likely benign	0	1	17	50
MUT:FLG:Gly2112Arg	PROT:P20930	FLG	G	2112	R	G2112R	Likely benign	0	1	17	99
MUT:FLG:Gly2162Arg	PROT:P20930	FLG	G	2162	R	G2162R	Likely benign	0	1	17	149
MUT:FLG:Gly2436Arg	PROT:P20930	FLG	G	2436	R	G2436R	Likely benign	0	1	17	78
MUT:FLG:Gly2545Arg	PROT:P20930	FLG	G	2545	R	G2545R	Benign	0	1	17	28
MUT:FLG:Gly2711Arg	PROT:P20930	FLG	G	2711	R	G2711R	Likely benign	0	1	17	117
MUT:FLG:Gly2795Arg	PROT:P20930	FLG	G	2795	R	G2795R	Likely benign	0	1	17	123
MUT:FLG:Gly3035Arg	PROT:P20930	FLG	G	3035	R	G3035R	Likely benign	0	1	17	117
MUT:FLG:Gly332Val	PROT:P20930	FLG	G	332	V	G332V	Benign	0	1	17	37
MUT:FLG:Gly3357Ala	PROT:P20930	FLG	G	3357	A	G3357A	Likely benign	0	1	17	132
MUT:FLG:Gly3436Ala	PROT:P20930	FLG	G	3436	A	G3436A	Benign	0	1	17	53
MUT:FLG:Gly3589Arg	PROT:P20930	FLG	G	3589	R	G3589R	Likely benign	0	1	17	100
MUT:FLG:Gly387Arg	PROT:P20930	FLG	G	387	R	G387R	Likely benign	0	1	17	92
MUT:FLG:Gly419Ser	PROT:P20930	FLG	G	419	S	G419S	Benign	0	1	17	124
MUT:FLG:Gly444Arg	PROT:P20930	FLG	G	444	R	G444R	Benign	0	1	17	149
MUT:FLG:Gly691Glu	PROT:P20930	FLG	G	691	E	G691E	Benign	0	1	17	25
MUT:FLG:Gly738Arg	PROT:P20930	FLG	G	738	R	G738R	Likely benign	0	1	17	22
MUT:FLG:Gly815Ala	PROT:P20930	FLG	G	815	A	G815A	Likely benign	0	1	17	99
MUT:FLG:Gly905Ser	PROT:P20930	FLG	G	905	S	G905S	Likely benign	0	1	17	189
MUT:FLG:Gly929Val	PROT:P20930	FLG	G	929	V	G929V	Likely benign	0	1	17	185
MUT:FLG:His1168Gln	PROT:P20930	FLG	H	1168	Q	H1168Q	Likely benign	0	1	17	54
MUT:FLG:His1339Arg	PROT:P20930	FLG	H	1339	R	H1339R	Likely benign	0	1	17	225
MUT:FLG:His1413Gln	PROT:P20930	FLG	H	1413	Q	H1413Q	Likely benign	0	1	17	299
MUT:FLG:His1961Gln	PROT:P20930	FLG	H	1961	Q	H1961Q	Benign	0	1	17	52
MUT:FLG:His2305Arg	PROT:P20930	FLG	H	2305	R	H2305R	Likely benign	0	1	17	209
MUT:FLG:His2333Arg	PROT:P20930	FLG	H	2333	R	H2333R	Likely benign	0	1	17	181
MUT:FLG:His2442Arg	PROT:P20930	FLG	H	2442	R	H2442R	Likely benign	0	1	17	72
MUT:FLG:His2463Arg	PROT:P20930	FLG	H	2463	R	H2463R	Likely benign	0	1	17	51
MUT:FLG:His2507Gln	PROT:P20930	FLG	H	2507	Q	H2507Q	Benign	0	1	17	7
MUT:FLG:His313Arg	PROT:P20930	FLG	H	313	R	H313R	Likely benign	0	1	17	18
MUT:FLG:His3629Arg	PROT:P20930	FLG	H	3629	R	H3629R	Likely benign	0	1	17	140
MUT:FLG:His519Asn	PROT:P20930	FLG	H	519	N	H519N	Benign	0	1	17	197
MUT:FLG:His727Gln	PROT:P20930	FLG	H	727	Q	H727Q	Benign	0	1	17	11
MUT:FLG:His770Pro	PROT:P20930	FLG	H	770	P	H770P	Likely benign	0	1	17	54
MUT:FLG:His821Arg	PROT:P20930	FLG	H	821	R	H821R	Likely benign	0	1	17	105
MUT:FLG:His980Asp	PROT:P20930	FLG	H	980	D	H980D	Benign	0	1	17	134
MUT:FLG:Ile922Ser	PROT:P20930	FLG	I	922	S	I922S	Likely benign	0	1	17	192
MUT:FLG:Leu1286Trp	PROT:P20930	FLG	L	1286	W	L1286W	Likely benign	0	1	17	172
MUT:FLG:Leu1943His	PROT:P20930	FLG	L	1943	H	L1943H	Benign	0	1	17	48
MUT:FLG:Leu2481Ser	PROT:P20930	FLG	L	2481	S	L2481S	Benign	0	1	17	33
MUT:FLG:Lys1222Asn	PROT:P20930	FLG	K	1222	N	K1222N	Likely benign	0	1	17	108
MUT:FLG:Lys1224Glu	PROT:P20930	FLG	K	1224	E	K1224E	Likely benign	0	1	17	110
MUT:FLG:Lys2073Gln	PROT:P20930	FLG	K	2073	Q	K2073Q	Likely benign	0	1	17	60
MUT:FLG:Lys2444Glu	PROT:P20930	FLG	K	2444	E	K2444E	Benign	0	1	17	70
MUT:FLG:Lys291Thr	PROT:P20930	FLG	K	291	T	K291T	Likely benign	0	1	17	4
MUT:FLG:Pro1008His	PROT:P20930	FLG	P	1008	H	P1008H	Likely benign	0	1	17	106
MUT:FLG:Pro1524Ser	PROT:P20930	FLG	P	1524	S	P1524S	Likely benign	0	1	17	370
MUT:FLG:Pro2557Ser	PROT:P20930	FLG	P	2557	S	P2557S	Likely benign	0	1	17	37
MUT:FLG:Pro2790Ser	PROT:P20930	FLG	P	2790	S	P2790S	Likely benign	0	1	17	128
MUT:FLG:Pro3529Ser	PROT:P20930	FLG	P	3529	S	P3529S	Benign	0	1	17	40
MUT:FLG:Pro478Ser	PROT:P20930	FLG	P	478	S	P478S	Benign	0	1	17	183
MUT:FLG:Ser1318Gly	PROT:P20930	FLG	S	1318	G	S1318G	Likely benign	0	1	17	204
MUT:FLG:Ser1482Tyr	PROT:P20930	FLG	S	1482	Y	S1482Y	Benign	0	1	17	368
MUT:FLG:Ser2020Ala	PROT:P20930	FLG	S	2020	A	S2020A	Benign	0	1	17	7
MUT:FLG:Ser2045Thr	PROT:P20930	FLG	S	2045	T	S2045T	Benign	0	1	17	32
MUT:FLG:Ser2083Arg	PROT:P20930	FLG	S	2083	R	S2083R	Likely benign	0	1	17	70
MUT:FLG:Ser2107Thr	PROT:P20930	FLG	S	2107	T	S2107T	Likely benign	0	1	17	94
MUT:FLG:Ser2366Thr	PROT:P20930	FLG	S	2366	T	S2366T	Benign	0	1	17	148
MUT:FLG:Ser2751Thr	PROT:P20930	FLG	S	2751	T	S2751T	Likely benign	0	1	17	157
MUT:FLG:Ser2817Gly	PROT:P20930	FLG	S	2817	G	S2817G	Likely benign	0	1	17	101
MUT:FLG:Ser2836Arg	PROT:P20930	FLG	S	2836	R	S2836R	Benign	0	1	17	82
MUT:FLG:Ser287Pro	PROT:P20930	FLG	S	287	P	S287P	Likely benign	0	1	17	8
MUT:FLG:Ser3662Thr	PROT:P20930	FLG	S	3662	T	S3662T	Benign/Likely benign	0	1	17	173
MUT:FLG:Ser593Thr	PROT:P20930	FLG	S	593	T	S593T	Likely benign	0	1	17	123
MUT:FLG:Ser742Tyr	PROT:P20930	FLG	S	742	Y	S742Y	Benign	0	1	17	26
MUT:FLG:Ser918Thr	PROT:P20930	FLG	S	918	T	S918T	Likely benign	0	1	17	196
MUT:FLG:Thr1396Ser	PROT:P20930	FLG	T	1396	S	T1396S	Likely benign	0	1	17	282
MUT:FLG:Thr1751Ala	PROT:P20930	FLG	T	1751	A	T1751A	Likely benign	0	1	17	143
MUT:FLG:Thr2454Ala	PROT:P20930	FLG	T	2454	A	T2454A	Likely benign	0	1	17	60
MUT:FLG:Thr2731Arg	PROT:P20930	FLG	T	2731	R	T2731R	Likely benign	0	1	17	137
MUT:FLG:Thr2955Ala	PROT:P20930	FLG	T	2955	A	T2955A	Likely benign	0	1	17	37
MUT:FLG:Thr3055Arg	PROT:P20930	FLG	T	3055	R	T3055R	Likely benign	0	1	17	137
MUT:FLG:Thr3407Ser	PROT:P20930	FLG	T	3407	S	T3407S	Likely benign	0	1	17	82
MUT:FLG:Thr3579Arg	PROT:P20930	FLG	T	3579	R	T3579R	Benign	0	1	17	90
MUT:FLG:Thr369Ala	PROT:P20930	FLG	T	369	A	T369A	Likely benign	0	1	17	74
MUT:FLG:Thr454Ala	PROT:P20930	FLG	T	454	A	T454A	Benign	0	1	17	159
MUT:FLG:Thr581Ser	PROT:P20930	FLG	T	581	S	T581S	Benign/Likely benign	0	1	17	135
MUT:FLG:Thr685Ala	PROT:P20930	FLG	T	685	A	T685A	Likely benign	0	1	17	31
MUT:FLG:Thr725Ile	PROT:P20930	FLG	T	725	I	T725I	Benign	0	1	17	9
MUT:FLG:Trp1947Gly	PROT:P20930	FLG	W	1947	G	W1947G	Benign	0	1	17	52
MUT:FLG:Trp2216Arg	PROT:P20930	FLG	W	2216	R	W2216R	Likely benign	0	1	17	203
MUT:FLG:Trp2563Arg	PROT:P20930	FLG	W	2563	R	W2563R	Likely benign	0	1	17	31
MUT:FLG:Trp2754Arg	PROT:P20930	FLG	W	2754	R	W2754R	Likely benign	0	1	17	160
MUT:FLG:Trp3078Arg	PROT:P20930	FLG	W	3078	R	W3078R	Likely benign	0	1	17	160
MUT:FLG:Trp326Arg	PROT:P20930	FLG	W	326	R	W326R	Likely benign	0	1	17	31
MUT:FLG:Trp3333Arg	PROT:P20930	FLG	W	3333	R	W3333R	Likely benign	0	1	17	156
MUT:FLG:Trp809Arg	PROT:P20930	FLG	W	809	R	W809R	Likely benign	0	1	17	93
MUT:FLG:Tyr1504His	PROT:P20930	FLG	Y	1504	H	Y1504H	Likely benign	0	1	17	390
MUT:FLG:Tyr1619His	PROT:P20930	FLG	Y	1619	H	Y1619H	Likely benign	0	1	17	275
MUT:FLG:Tyr1829His	PROT:P20930	FLG	Y	1829	H	Y1829H	Likely benign	0	1	17	65
MUT:FLG:Tyr2039Ser	PROT:P20930	FLG	Y	2039	S	Y2039S	Likely benign	0	1	17	26
MUT:FLG:Tyr2119His	PROT:P20930	FLG	Y	2119	H	Y2119H	Benign	0	1	17	106
MUT:FLG:Tyr2194His	PROT:P20930	FLG	Y	2194	H	Y2194H	Benign	0	1	17	181
MUT:FLG:Tyr2478His	PROT:P20930	FLG	Y	2478	H	Y2478H	Likely benign	0	1	17	36
MUT:FLG:Tyr2687Ser	PROT:P20930	FLG	Y	2687	S	Y2687S	Likely benign	0	1	17	93
MUT:FLG:Tyr3773His	PROT:P20930	FLG	Y	3773	H	Y3773H	Likely benign	0	1	17	142
MUT:FLG:Val1343Ala	PROT:P20930	FLG	V	1343	A	V1343A	Likely benign	0	1	17	229
MUT:FLG:Val1395Ala	PROT:P20930	FLG	V	1395	A	V1395A	Likely benign	0	1	17	281
MUT:FLG:Val1705Ala	PROT:P20930	FLG	V	1705	A	V1705A	Likely benign	0	1	17	189
MUT:FLG:Val2874Gly	PROT:P20930	FLG	V	2874	G	V2874G	Likely benign	0	1	17	44
MUT:FLG:Val3179Gly	PROT:P20930	FLG	V	3179	G	V3179G	Benign	0	1	17	261
MUT:FLG:Val78Ile	PROT:P20930	FLG	V	78	I	V78I	Likely benign	0	1	17	49
MUT:FLII:Arg1168Trp	PROT:Q13045	FLII	R	1168	W	R1168W	Pathogenic	1	1	30	6
MUT:FLII:Arg1240Cys	PROT:Q13045	FLII	R	1240	C	R1240C	Likely pathogenic	1	2	30	78
MUT:FLII:Glu364Val	PROT:Q13045	FLII	E	364	V	E364V	Benign/Likely benign	0	14	30	17
MUT:FLNC:Ala1183Leu	PROT:Q14315	FLNC	A	1183	L	A1183L	Likely pathogenic	1	1	96	22
MUT:FLNC:Ala1186Val	PROT:Q14315	FLNC	A	1186	V	A1186V	Pathogenic/Likely pathogenic	1	4	96	25
MUT:FLNC:Ala1539Thr	PROT:Q14315	FLNC	A	1539	T	A1539T	Pathogenic	1	1	96	7
MUT:FLNC:Ala1792Thr	PROT:Q14315	FLNC	A	1792	T	A1792T	Likely benign	0	1	96	7
MUT:FLNC:Ala1922Thr	PROT:Q14315	FLNC	A	1922	T	A1922T	Benign/Likely benign	0	1	96	18
MUT:FLNC:Ala193Thr	PROT:Q14315	FLNC	A	193	T	A193T	Pathogenic/Likely pathogenic	1	3	96	4
MUT:FLNC:Ala29Glu	PROT:Q14315	FLNC	A	29	E	A29E	Likely pathogenic	1	1	96	6
MUT:FLNC:Arg1241Cys	PROT:Q14315	FLNC	R	1241	C	R1241C	Benign/Likely benign	0	1	96	1
MUT:FLNC:Arg1860Cys	PROT:Q14315	FLNC	R	1860	C	R1860C	Benign/Likely benign	0	2	96	12
MUT:FLNC:Arg2364His	PROT:Q14315	FLNC	R	2364	H	R2364H	Benign/Likely benign	0	2	96	31
MUT:FLNC:Arg727His	PROT:Q14315	FLNC	R	727	H	R727H	Benign/Likely benign	0	1	96	7
MUT:FLNC:Asp1580Asn	PROT:Q14315	FLNC	D	1580	N	D1580N	Likely pathogenic	1	1	96	44
MUT:FLNC:Asp693Ala	PROT:Q14315	FLNC	D	693	A	D693A	Benign/Likely benign	0	1	96	41
MUT:FLNC:Asp798Asn	PROT:Q14315	FLNC	D	798	N	D798N	Benign/Likely benign	0	2	96	22
MUT:FLNC:Cys203Tyr	PROT:Q14315	FLNC	C	203	Y	C203Y	Likely pathogenic	1	1	96	14
MUT:FLNC:Gly1548Arg	PROT:Q14315	FLNC	G	1548	R	G1548R	Likely pathogenic	1	1	96	16
MUT:FLNC:Gly553Ser	PROT:Q14315	FLNC	G	553	S	G553S	Benign/Likely benign	0	1	96	6
MUT:FLNC:His2315Asn	PROT:Q14315	FLNC	H	2315	N	H2315N	Pathogenic	1	1	96	1
MUT:FLNC:Ile1621Phe	PROT:Q14315	FLNC	I	1621	F	I1621F	Likely pathogenic	1	1	96	3
MUT:FLNC:Leu659Arg	PROT:Q14315	FLNC	L	659	R	L659R	Benign/Likely benign	0	1	96	34
MUT:FLNC:Lys1169Arg	PROT:Q14315	FLNC	K	1169	R	K1169R	Benign/Likely benign	0	1	96	8
MUT:FLNC:Met222Thr	PROT:Q14315	FLNC	M	222	T	M222T	Pathogenic	1	1	96	33
MUT:FLNC:Met222Val	PROT:Q14315	FLNC	M	222	V	M222V	Pathogenic/Likely pathogenic	1	1	96	33
MUT:FLNC:Met251Thr	PROT:Q14315	FLNC	M	251	T	M251T	Pathogenic/Likely pathogenic	1	1	96	62
MUT:FLNC:Pro1729Ser	PROT:Q14315	FLNC	P	1729	S	P1729S	Likely pathogenic	1	1	96	1
MUT:FLNC:Pro836Gln	PROT:Q14315	FLNC	P	836	Q	P836Q	Benign/Likely benign	0	2	96	2
MUT:FLNC:Ser1624Leu	PROT:Q14315	FLNC	S	1624	L	S1624L	Pathogenic/Likely pathogenic	1	4	96	0
MUT:FLNC:Ser1940Arg	PROT:Q14315	FLNC	S	1940	R	S1940R	Likely pathogenic	1	1	96	0
MUT:FLNC:Thr1283Ala	PROT:Q14315	FLNC	T	1283	A	T1283A	Likely benign	0	1	96	16
MUT:FLNC:Thr834Met	PROT:Q14315	FLNC	T	834	M	T834M	Benign/Likely benign	0	1	96	0
MUT:FLNC:Tyr2563Cys	PROT:Q14315	FLNC	Y	2563	C	Y2563C	Pathogenic	1	1	96	23
MUT:FLNC:Val123Ala	PROT:Q14315	FLNC	V	123	A	V123A	Pathogenic	1	1	96	7
MUT:FLNC:Val1253Ile	PROT:Q14315	FLNC	V	1253	I	V1253I	Benign/Likely benign	0	2	96	13
MUT:FLNC:Val1487Met	PROT:Q14315	FLNC	V	1487	M	V1487M	Likely benign	0	1	96	40
MUT:FLNC:Val1715Ile	PROT:Q14315	FLNC	V	1715	I	V1715I	Likely benign	0	1	96	13
MUT:FLNC:Val2059Met	PROT:Q14315	FLNC	V	2059	M	V2059M	Benign/Likely benign	0	5	96	17
MUT:FLNC:Val2297Met	PROT:Q14315	FLNC	V	2297	M	V2297M	Pathogenic/Likely pathogenic	1	2	96	3
MUT:FLT3:Ala988Pro	PROT:P36888	FLT3	A	988	P	A988P	Benign	0	3	17	5
MUT:FLT3:Arg243Lys	PROT:P36888	FLT3	R	243	K	R243K	Likely benign	0	1	17	217
MUT:FLT3:Arg845Gly	PROT:P36888	FLT3	R	845	G	R845G	Likely pathogenic	1	1	17	3
MUT:FLT3:Asp324Asn	PROT:P36888	FLT3	D	324	N	D324N	Likely benign	0	1	17	265
MUT:FLT3:Asp835Asn	PROT:P36888	FLT3	D	835	N	D835N	Pathogenic	1	1	17	5
MUT:FLT3:Asp835His	PROT:P36888	FLT3	D	835	H	D835H	Pathogenic	1	1	17	5
MUT:FLT3:Asp835Tyr	PROT:P36888	FLT3	D	835	Y	D835Y	Pathogenic	1	2	17	5
MUT:FLT3:Asp835Val	PROT:P36888	FLT3	D	835	V	D835V	Pathogenic	1	2	17	5
MUT:FLT3:Ser446Leu	PROT:P36888	FLT3	S	446	L	S446L	Likely benign	0	1	17	143
MUT:FLT3:Thr227Met	PROT:P36888	FLT3	T	227	M	T227M	Benign	0	1	17	201
MUT:FLT3:Tyr572Cys	PROT:P36888	FLT3	Y	572	C	Y572C	Likely pathogenic	1	1	17	17
MUT:FLT3:Tyr572His	PROT:P36888	FLT3	Y	572	H	Y572H	Likely pathogenic	1	1	17	17
MUT:FLT4:Ala1210Thr	PROT:P35916	FLT4	A	1210	T	A1210T	Likely benign	0	1	13	20
MUT:FLT4:Arg1041Gln	PROT:P35916	FLT4	R	1041	Q	R1041Q	Pathogenic/Likely pathogenic	1	1	13	22
MUT:FLT4:Arg1041Pro	PROT:P35916	FLT4	R	1041	P	R1041P	Pathogenic	1	2	13	22
MUT:FLT4:Arg1041Trp	PROT:P35916	FLT4	R	1041	W	R1041W	Pathogenic/Likely pathogenic	1	3	13	22
MUT:FLT4:Asp1037Asn	PROT:P35916	FLT4	D	1037	N	D1037N	Pathogenic	1	1	13	26
MUT:FLT4:Asp1274Val	PROT:P35916	FLT4	D	1274	V	D1274V	Likely pathogenic	1	1	13	39
MUT:FLT4:Asp1347Gly	PROT:P35916	FLT4	D	1347	G	D1347G	Likely benign	0	1	13	10
MUT:FLT4:Gln423His	PROT:P35916	FLT4	Q	423	H	Q423H	Likely benign	0	1	13	94
MUT:FLT4:Gln698Arg	PROT:P35916	FLT4	Q	698	R	Q698R	Likely benign	0	1	13	132
MUT:FLT4:Glu1106Lys	PROT:P35916	FLT4	E	1106	K	E1106K	Pathogenic	1	1	13	38
MUT:FLT4:Glu76Lys	PROT:P35916	FLT4	E	76	K	E76K	Likely benign	0	1	13	441
MUT:FLT4:Gly1111Glu	PROT:P35916	FLT4	G	1111	E	G1111E	Pathogenic	1	1	13	43
MUT:FLT4:Gly1131Ser	PROT:P35916	FLT4	G	1131	S	G1131S	Pathogenic/Likely pathogenic	1	1	13	63
MUT:FLT4:Gly1276Glu	PROT:P35916	FLT4	G	1276	E	G1276E	Likely pathogenic	1	2	13	41
MUT:FLT4:Gly857Arg	PROT:P35916	FLT4	G	857	R	G857R	Pathogenic	1	2	13	4
MUT:FLT4:Gly914Glu	PROT:P35916	FLT4	G	914	E	G914E	Likely pathogenic	1	1	13	39
MUT:FLT4:His102Arg	PROT:P35916	FLT4	H	102	R	H102R	Likely benign	0	1	13	415
MUT:FLT4:His1035Arg	PROT:P35916	FLT4	H	1035	R	H1035R	Pathogenic	1	1	13	28
MUT:FLT4:His1035Tyr	PROT:P35916	FLT4	H	1035	Y	H1035Y	Likely pathogenic	1	1	13	28
MUT:FLT4:His890Gln	PROT:P35916	FLT4	H	890	Q	H890Q	Benign	0	2	13	37
MUT:FLT4:Ile1086Thr	PROT:P35916	FLT4	I	1086	T	I1086T	Pathogenic/Likely pathogenic	1	2	13	18
MUT:FLT4:Leu1044Pro	PROT:P35916	FLT4	L	1044	P	L1044P	Pathogenic	1	1	13	19
MUT:FLT4:Leu159Val	PROT:P35916	FLT4	L	159	V	L159V	Benign/Likely benign	0	1	13	358
MUT:FLT4:Leu687Val	PROT:P35916	FLT4	L	687	V	L687V	Likely benign	0	1	13	143
MUT:FLT4:Met924Lys	PROT:P35916	FLT4	M	924	K	M924K	Pathogenic	1	1	13	29
MUT:FLT4:Pro1077Ser	PROT:P35916	FLT4	P	1077	S	P1077S	Likely pathogenic	1	1	13	9
MUT:FLT4:Pro1114Leu	PROT:P35916	FLT4	P	1114	L	P1114L	Likely pathogenic	1	1	13	46
MUT:FLT4:Pro1137Arg	PROT:P35916	FLT4	P	1137	R	P1137R	Likely pathogenic	1	1	13	69
MUT:FLT4:Pro1137Leu	PROT:P35916	FLT4	P	1137	L	P1137L	Likely pathogenic	1	2	13	69
MUT:FLT4:Pro641Ser	PROT:P35916	FLT4	P	641	S	P641S	Benign/Likely benign	0	1	13	124
MUT:FLT4:Pro948Ser	PROT:P35916	FLT4	P	948	S	P948S	Likely benign	0	1	13	5
MUT:FLT4:Pro954Ser	PROT:P35916	FLT4	P	954	S	P954S	Benign/Likely benign	0	2	13	1
MUT:FLT4:Ser637Arg	PROT:P35916	FLT4	S	637	R	S637R	Likely benign	0	1	13	120
MUT:FLT4:Thr1254Ile	PROT:P35916	FLT4	T	1254	I	T1254I	Likely benign	0	1	13	19
MUT:FLT4:Val1355Met	PROT:P35916	FLT4	V	1355	M	V1355M	Likely benign	0	1	13	18
MUT:FLT4:Val878Met	PROT:P35916	FLT4	V	878	M	V878M	Pathogenic	1	1	13	25
MUT:FMN2:Ala391Ser	PROT:Q9NZ56	FMN2	A	391	S	A391S	Likely benign	0	1	19	5
MUT:FMN2:Arg1148Gly	PROT:Q9NZ56	FMN2	R	1148	G	R1148G	Benign	0	1	19	161
MUT:FMN2:Arg1468His	PROT:Q9NZ56	FMN2	R	1468	H	R1468H	Benign	0	1	19	107
MUT:FMN2:Arg734Gln	PROT:Q9NZ56	FMN2	R	734	Q	R734Q	Likely benign	0	1	19	235
MUT:FMN2:Asp761Gly	PROT:Q9NZ56	FMN2	D	761	G	D761G	Likely benign	0	1	19	262
MUT:FMN2:Gln824Arg	PROT:Q9NZ56	FMN2	Q	824	R	Q824R	Likely benign	0	1	19	325
MUT:FMN2:Glu639Lys	PROT:Q9NZ56	FMN2	E	639	K	E639K	Likely benign	0	1	19	140
MUT:FMN2:Glu730Lys	PROT:Q9NZ56	FMN2	E	730	K	E730K	Likely benign	0	1	19	231
MUT:FMN2:Gly1484Cys	PROT:Q9NZ56	FMN2	G	1484	C	G1484C	Likely benign	0	1	19	123
MUT:FMN2:Gly941Ala	PROT:Q9NZ56	FMN2	G	941	A	G941A	Benign	0	1	19	368
MUT:FMN2:Ile183Phe	PROT:Q9NZ56	FMN2	I	183	F	I183F	Likely pathogenic	1	1	19	1
MUT:FMN2:Leu1237Val	PROT:Q9NZ56	FMN2	L	1237	V	L1237V	Benign	0	1	19	72
MUT:FMN2:Leu1683Ile	PROT:Q9NZ56	FMN2	L	1683	I	L1683I	Likely benign	0	1	19	322
MUT:FMN2:Leu451Gln	PROT:Q9NZ56	FMN2	L	451	Q	L451Q	Benign/Likely benign	0	1	19	1
MUT:FMN2:Leu934Pro	PROT:Q9NZ56	FMN2	L	934	P	L934P	Likely benign	0	1	19	375
MUT:FMN2:Lys1280Arg	PROT:Q9NZ56	FMN2	K	1280	R	K1280R	Likely benign	0	1	19	29
MUT:FMN2:Met886Arg	PROT:Q9NZ56	FMN2	M	886	R	M886R	Benign/Likely benign	0	3	19	387
MUT:FMN2:Pro1010Leu	PROT:Q9NZ56	FMN2	P	1010	L	P1010L	Likely benign	0	1	19	299
MUT:FMN2:Pro1207Ala	PROT:Q9NZ56	FMN2	P	1207	A	P1207A	Likely benign	0	1	19	102
MUT:FMN2:Pro1265Leu	PROT:Q9NZ56	FMN2	P	1265	L	P1265L	Benign/Likely benign	0	1	19	44
MUT:FMN2:Pro947Leu	PROT:Q9NZ56	FMN2	P	947	L	P947L	Benign/Likely benign	0	1	19	362
MUT:FMN2:Pro955Ala	PROT:Q9NZ56	FMN2	P	955	A	P955A	Likely benign	0	1	19	354
MUT:FMN2:Ser1531Cys	PROT:Q9NZ56	FMN2	S	1531	C	S1531C	Likely benign	0	1	19	170
MUT:FMN2:Thr1256Ala	PROT:Q9NZ56	FMN2	T	1256	A	T1256A	Likely benign	0	1	19	53
MUT:FMN2:Val1105Ala	PROT:Q9NZ56	FMN2	V	1105	A	V1105A	Benign	0	1	19	204
MUT:FMN2:Val1249Ala	PROT:Q9NZ56	FMN2	V	1249	A	V1249A	Likely benign	0	1	19	60
MUT:FN1:Ala1078Val	PROT:P02751	FN1	A	1078	V	A1078V	Likely benign	0	1	19	44
MUT:FN1:Arg2150Gln	PROT:P02751	FN1	R	2150	Q	R2150Q	Likely benign	0	1	19	175
MUT:FN1:Arg2275Gln	PROT:P02751	FN1	R	2275	Q	R2275Q	Benign	0	1	19	88
MUT:FN1:Asn251Tyr	PROT:P02751	FN1	N	251	Y	N251Y	Benign/Likely benign	0	1	19	145
MUT:FN1:Cys123Arg	PROT:P02751	FN1	C	123	R	C123R	Pathogenic/Likely pathogenic	1	3	19	17
MUT:FN1:Cys123Tyr	PROT:P02751	FN1	C	123	Y	C123Y	Likely pathogenic	1	1	19	17
MUT:FN1:Cys169Tyr	PROT:P02751	FN1	C	169	Y	C169Y	Likely pathogenic	1	1	19	63
MUT:FN1:Cys213Arg	PROT:P02751	FN1	C	213	R	C213R	Likely pathogenic	1	1	19	107
MUT:FN1:Cys213Phe	PROT:P02751	FN1	C	213	F	C213F	Likely pathogenic	1	1	19	107
MUT:FN1:Cys213Tyr	PROT:P02751	FN1	C	213	Y	C213Y	Pathogenic	1	1	19	107
MUT:FN1:Cys225Trp	PROT:P02751	FN1	C	225	W	C225W	Pathogenic/Likely pathogenic	1	2	19	119
MUT:FN1:Cys231Trp	PROT:P02751	FN1	C	231	W	C231W	Likely pathogenic	1	1	19	125
MUT:FN1:Cys260Gly	PROT:P02751	FN1	C	260	G	C260G	Likely pathogenic	1	2	19	154
MUT:FN1:Cys87Phe	PROT:P02751	FN1	C	87	F	C87F	Likely pathogenic	1	2	19	14
MUT:FN1:Cys87Trp	PROT:P02751	FN1	C	87	W	C87W	Pathogenic	1	1	19	14
MUT:FN1:Gln15Leu	PROT:P02751	FN1	Q	15	L	Q15L	Benign	0	3	19	86
MUT:FN1:Glu753Lys	PROT:P02751	FN1	E	753	K	E753K	Likely benign	0	1	19	151
MUT:FN1:Gly313Val	PROT:P02751	FN1	G	313	V	G313V	Likely pathogenic	1	1	19	207
MUT:FN1:His2116Gln	PROT:P02751	FN1	H	2116	Q	H2116Q	Likely benign	0	1	19	141
MUT:FN1:Ile1103Leu	PROT:P02751	FN1	I	1103	L	I1103L	Benign	0	1	19	19
MUT:FN1:Ile1921Phe	PROT:P02751	FN1	I	1921	F	I1921F	Benign/Likely benign	0	1	19	3
MUT:FN1:Ile2460Thr	PROT:P02751	FN1	I	2460	T	I2460T	Likely pathogenic	1	1	19	15
MUT:FN1:Leu1974Arg	PROT:P02751	FN1	L	1974	R	L1974R	Pathogenic	1	1	19	1
MUT:FN1:Leu1974Pro	PROT:P02751	FN1	L	1974	P	L1974P	Pathogenic	1	1	19	1
MUT:FN1:Lys1050Gln	PROT:P02751	FN1	K	1050	Q	K1050Q	Likely benign	0	1	19	72
MUT:FN1:Ser1892Asn	PROT:P02751	FN1	S	1892	N	S1892N	Likely benign	0	1	19	32
MUT:FN1:Ser2432Thr	PROT:P02751	FN1	S	2432	T	S2432T	Benign/Likely benign	0	1	19	8
MUT:FN1:Thr68Ser	PROT:P02751	FN1	T	68	S	T68S	Likely benign	0	1	19	33
MUT:FN1:Thr715Met	PROT:P02751	FN1	T	715	M	T715M	Benign	0	1	19	189
MUT:FN1:Thr817Pro	PROT:P02751	FN1	T	817	P	T817P	Benign	0	2	19	87
MUT:FN1:Thr901Asn	PROT:P02751	FN1	T	901	N	T901N	Likely benign	0	1	19	3
MUT:FN1:Thr935Ile	PROT:P02751	FN1	T	935	I	T935I	Likely benign	0	1	19	0
MUT:FN1:Trp1017Cys	PROT:P02751	FN1	W	1017	C	W1017C	Pathogenic	1	1	19	41
MUT:FN1:Trp1925Arg	PROT:P02751	FN1	W	1925	R	W1925R	Pathogenic	1	1	19	1
MUT:FN1:Trp1925Cys	PROT:P02751	FN1	W	1925	C	W1925C	Pathogenic	1	1	19	1
MUT:FN1:Tyr240Asp	PROT:P02751	FN1	Y	240	D	Y240D	Likely pathogenic	1	2	19	134
MUT:FN1:Tyr973Cys	PROT:P02751	FN1	Y	973	C	Y973C	Pathogenic	1	2	19	1
MUT:FN1:Val2261Ile	PROT:P02751	FN1	V	2261	I	V2261I	Benign	0	2	19	102
MUT:FN1:Val2308Ala	PROT:P02751	FN1	V	2308	A	V2308A	Benign/Likely benign	0	1	19	55
MUT:FNDC3A:Thr1017Ala	PROT:Q9Y2H6	FNDC3A	T	1017	A	T1017A	Benign	0	1	18	1
MUT:FNDC3B:Ala452Ser	PROT:Q53EP0	FNDC3B	A	452	S	A452S	Benign	0	1	13	32
MUT:FNDC3B:Glu989Asp	PROT:Q53EP0	FNDC3B	E	989	D	E989D	Benign	0	1	13	174
MUT:FNDC3B:Thr179Ser	PROT:Q53EP0	FNDC3B	T	179	S	T179S	Benign	0	1	13	29
MUT:FNDC3B:Val864Ile	PROT:Q53EP0	FNDC3B	V	864	I	V864I	Benign	0	1	13	299
MUT:FNIP2:Arg741Gln	PROT:Q9P278	FNIP2	R	741	Q	R741Q	Likely benign	0	5	11	15
MUT:FOXC1:Ala243Ser	PROT:Q12948	FOXC1	A	243	S	A243S	Likely benign	0	1	9	8
MUT:FOXC1:Ala90Val	PROT:Q12948	FOXC1	A	90	V	A90V	Likely pathogenic	1	1	9	22
MUT:FOXC1:Arg127His	PROT:Q12948	FOXC1	R	127	H	R127H	Pathogenic	1	2	9	2
MUT:FOXC1:Arg127Leu	PROT:Q12948	FOXC1	R	127	L	R127L	Pathogenic/Likely pathogenic	1	1	9	2
MUT:FOXC1:Arg127Ser	PROT:Q12948	FOXC1	R	127	S	R127S	Likely pathogenic	1	1	9	2
MUT:FOXC1:Arg170Trp	PROT:Q12948	FOXC1	R	170	W	R170W	Pathogenic	1	1	9	11
MUT:FOXC1:Arg173His	PROT:Q12948	FOXC1	R	173	H	R173H	Likely pathogenic	1	1	9	14
MUT:FOXC1:Asn133Lys	PROT:Q12948	FOXC1	N	133	K	N133K	Pathogenic	1	1	9	8
MUT:FOXC1:Asp157Val	PROT:Q12948	FOXC1	D	157	V	D157V	Likely pathogenic	1	1	9	2
MUT:FOXC1:Cys135Tyr	PROT:Q12948	FOXC1	C	135	Y	C135Y	Likely pathogenic	1	1	9	10
MUT:FOXC1:Gln200His	PROT:Q12948	FOXC1	Q	200	H	Q200H	Benign	0	1	9	28
MUT:FOXC1:Gln477His	PROT:Q12948	FOXC1	Q	477	H	Q477H	Likely benign	0	1	9	44
MUT:FOXC1:Gln92Pro	PROT:Q12948	FOXC1	Q	92	P	Q92P	Pathogenic	1	1	9	24
MUT:FOXC1:Gly121Ser	PROT:Q12948	FOXC1	G	121	S	G121S	Likely pathogenic	1	1	9	4
MUT:FOXC1:Gly380Val	PROT:Q12948	FOXC1	G	380	V	G380V	Likely pathogenic	1	1	9	108
MUT:FOXC1:Gly59Val	PROT:Q12948	FOXC1	G	59	V	G59V	Likely pathogenic	1	1	9	9
MUT:FOXC1:His128Gln	PROT:Q12948	FOXC1	H	128	Q	H128Q	Likely pathogenic	1	1	9	3
MUT:FOXC1:Ile126Met	PROT:Q12948	FOXC1	I	126	M	I126M	Pathogenic	1	1	9	1
MUT:FOXC1:Ile87Met	PROT:Q12948	FOXC1	I	87	M	I87M	Pathogenic	1	1	9	19
MUT:FOXC1:Leu86Arg	PROT:Q12948	FOXC1	L	86	R	L86R	Pathogenic	1	1	9	18
MUT:FOXC1:Leu86Phe	PROT:Q12948	FOXC1	L	86	F	L86F	Pathogenic	1	1	9	18
MUT:FOXC1:Phe112Ser	PROT:Q12948	FOXC1	F	112	S	F112S	Pathogenic	1	1	9	13
MUT:FOXC1:Phe136Ser	PROT:Q12948	FOXC1	F	136	S	F136S	Likely pathogenic	1	1	9	11
MUT:FOXC1:Phe162Val	PROT:Q12948	FOXC1	F	162	V	F162V	Likely pathogenic	1	1	9	3
MUT:FOXC1:Pro297Ser	PROT:Q12948	FOXC1	P	297	S	P297S	Benign	0	2	9	25
MUT:FOXC1:Pro79Thr	PROT:Q12948	FOXC1	P	79	T	P79T	Pathogenic	1	1	9	11
MUT:FOXC1:Ser131Leu	PROT:Q12948	FOXC1	S	131	L	S131L	Pathogenic/Likely pathogenic	1	2	9	6
MUT:FOXC1:Ser131Trp	PROT:Q12948	FOXC1	S	131	W	S131W	Pathogenic	1	1	9	6
MUT:FOXC1:Ser445Arg	PROT:Q12948	FOXC1	S	445	R	S445R	Benign/Likely benign	0	1	9	76
MUT:FOXC1:Ser82Arg	PROT:Q12948	FOXC1	S	82	R	S82R	Pathogenic	1	1	9	14
MUT:FOXC1:Ser82Thr	PROT:Q12948	FOXC1	S	82	T	S82T	Pathogenic	1	1	9	14
MUT:FOXC1:Trp152Arg	PROT:Q12948	FOXC1	W	152	R	W152R	Likely pathogenic	1	1	9	7
MUT:FOXC1:Trp152Cys	PROT:Q12948	FOXC1	W	152	C	W152C	Likely pathogenic	1	1	9	7
MUT:FOXC1:Tyr81His	PROT:Q12948	FOXC1	Y	81	H	Y81H	Pathogenic	1	1	9	13
MUT:FOXC1:Tyr83His	PROT:Q12948	FOXC1	Y	83	H	Y83H	Likely pathogenic	1	1	9	15
MUT:FOXC2:Arg121Cys	PROT:Q99958	FOXC2	R	121	C	R121C	Pathogenic/Likely pathogenic	1	1	12	2
MUT:FOXC2:Arg121His	PROT:Q99958	FOXC2	R	121	H	R121H	Pathogenic	1	1	12	2
MUT:FOXC2:Cys498Arg	PROT:Q99958	FOXC2	C	498	R	C498R	Benign/Likely benign	0	1	12	4
MUT:FOXC2:Leu124Phe	PROT:Q99958	FOXC2	L	124	F	L124F	Likely pathogenic	1	1	12	1
MUT:FOXC2:Pro402Leu	PROT:Q99958	FOXC2	P	402	L	P402L	Pathogenic	1	1	12	92
MUT:FOXC2:Ser125Leu	PROT:Q99958	FOXC2	S	125	L	S125L	Likely pathogenic	1	1	12	0
MUT:FOXC2:Tyr41Phe	PROT:Q99958	FOXC2	Y	41	F	Y41F	Pathogenic	1	1	12	5
MUT:FOXG1:Ala115Val	PROT:P55316	FOXG1	A	115	V	A115V	Benign	0	2	5	96
MUT:FOXG1:Ala121Gly	PROT:P55316	FOXG1	A	121	G	A121G	Benign	0	1	5	102
MUT:FOXG1:Ala188Glu	PROT:P55316	FOXG1	A	188	E	A188E	Likely pathogenic	1	2	5	40
MUT:FOXG1:Ala188Gly	PROT:P55316	FOXG1	A	188	G	A188G	Likely pathogenic	1	1	5	40
MUT:FOXG1:Ala193Asp	PROT:P55316	FOXG1	A	193	D	A193D	Likely pathogenic	1	1	5	35
MUT:FOXG1:Ala193Pro	PROT:P55316	FOXG1	A	193	P	A193P	Likely pathogenic	1	1	5	35
MUT:FOXG1:Ala193Thr	PROT:P55316	FOXG1	A	193	T	A193T	Pathogenic/Likely pathogenic	1	1	5	35
MUT:FOXG1:Ala193Val	PROT:P55316	FOXG1	A	193	V	A193V	Pathogenic/Likely pathogenic	1	1	5	35
MUT:FOXG1:Ala35Val	PROT:P55316	FOXG1	A	35	V	A35V	Likely pathogenic	1	1	5	16
MUT:FOXG1:Ala438Val	PROT:P55316	FOXG1	A	438	V	A438V	Likely benign	0	1	5	159
MUT:FOXG1:Ala81Thr	PROT:P55316	FOXG1	A	81	T	A81T	Benign	0	1	5	62
MUT:FOXG1:Ala90Ser	PROT:P55316	FOXG1	A	90	S	A90S	Benign	0	1	5	71
MUT:FOXG1:Ala92Val	PROT:P55316	FOXG1	A	92	V	A92V	Likely benign	0	1	5	73
MUT:FOXG1:Arg195Gln	PROT:P55316	FOXG1	R	195	Q	R195Q	Likely pathogenic	1	1	5	33
MUT:FOXG1:Arg201Leu	PROT:P55316	FOXG1	R	201	L	R201L	Likely pathogenic	1	1	5	27
MUT:FOXG1:Arg201Pro	PROT:P55316	FOXG1	R	201	P	R201P	Pathogenic/Likely pathogenic	1	1	5	27
MUT:FOXG1:Arg230Cys	PROT:P55316	FOXG1	R	230	C	R230C	Likely pathogenic	1	2	5	2
MUT:FOXG1:Arg230His	PROT:P55316	FOXG1	R	230	H	R230H	Likely pathogenic	1	1	5	2
MUT:FOXG1:Arg230Leu	PROT:P55316	FOXG1	R	230	L	R230L	Likely pathogenic	1	1	5	2
MUT:FOXG1:Arg244Cys	PROT:P55316	FOXG1	R	244	C	R244C	Pathogenic/Likely pathogenic	1	1	5	2
MUT:FOXG1:Arg274Gln	PROT:P55316	FOXG1	R	274	Q	R274Q	Pathogenic	1	1	5	5
MUT:FOXG1:Arg274Pro	PROT:P55316	FOXG1	R	274	P	R274P	Pathogenic	1	1	5	5
MUT:FOXG1:Arg88Gln	PROT:P55316	FOXG1	R	88	Q	R88Q	Likely benign	0	1	5	69
MUT:FOXG1:Arg88Pro	PROT:P55316	FOXG1	R	88	P	R88P	Benign	0	1	5	69
MUT:FOXG1:Asn187Asp	PROT:P55316	FOXG1	N	187	D	N187D	Pathogenic	1	1	5	41
MUT:FOXG1:Asn187Lys	PROT:P55316	FOXG1	N	187	K	N187K	Pathogenic	1	1	5	41
MUT:FOXG1:Asn227Ser	PROT:P55316	FOXG1	N	227	S	N227S	Likely pathogenic	1	1	5	1
MUT:FOXG1:Asn232Asp	PROT:P55316	FOXG1	N	232	D	N232D	Pathogenic	1	1	5	2
MUT:FOXG1:Asn232Ile	PROT:P55316	FOXG1	N	232	I	N232I	Likely pathogenic	1	1	5	2
MUT:FOXG1:Asn232Ser	PROT:P55316	FOXG1	N	232	S	N232S	Pathogenic/Likely pathogenic	1	1	5	2
MUT:FOXG1:Asn232Thr	PROT:P55316	FOXG1	N	232	T	N232T	Pathogenic	1	1	5	2
MUT:FOXG1:Asn236Asp	PROT:P55316	FOXG1	N	236	D	N236D	Likely pathogenic	1	1	5	2
MUT:FOXG1:Asn253Asp	PROT:P55316	FOXG1	N	253	D	N253D	Pathogenic/Likely pathogenic	1	1	5	7
MUT:FOXG1:Asn253Lys	PROT:P55316	FOXG1	N	253	K	N253K	Likely pathogenic	1	1	5	7
MUT:FOXG1:Asn353Ser	PROT:P55316	FOXG1	N	353	S	N353S	Benign	0	1	5	74
MUT:FOXG1:Asn408Tyr	PROT:P55316	FOXG1	N	408	Y	N408Y	Likely pathogenic	1	1	5	129
MUT:FOXG1:Asp96Gly	PROT:P55316	FOXG1	D	96	G	D96G	Likely benign	0	1	5	77
MUT:FOXG1:Cys238Tyr	PROT:P55316	FOXG1	C	238	Y	C238Y	Likely pathogenic	1	1	5	4
MUT:FOXG1:Gln196Pro	PROT:P55316	FOXG1	Q	196	P	Q196P	Pathogenic	1	1	5	32
MUT:FOXG1:Gln226Glu	PROT:P55316	FOXG1	Q	226	E	Q226E	Pathogenic	1	1	5	2
MUT:FOXG1:Gln347Pro	PROT:P55316	FOXG1	Q	347	P	Q347P	Likely benign	0	1	5	68
MUT:FOXG1:Gln70Pro	PROT:P55316	FOXG1	Q	70	P	Q70P	Benign	0	1	5	51
MUT:FOXG1:Gln73Pro	PROT:P55316	FOXG1	Q	73	P	Q73P	Benign	0	1	5	54
MUT:FOXG1:Gln86Glu	PROT:P55316	FOXG1	Q	86	E	Q86E	Benign/Likely benign	0	1	5	67
MUT:FOXG1:Gln86Lys	PROT:P55316	FOXG1	Q	86	K	Q86K	Likely benign	0	1	5	67
MUT:FOXG1:Glu144Asp	PROT:P55316	FOXG1	E	144	D	E144D	Likely benign	0	1	5	84
MUT:FOXG1:Gly126Ser	PROT:P55316	FOXG1	G	126	S	G126S	Benign	0	1	5	102
MUT:FOXG1:Gly128Cys	PROT:P55316	FOXG1	G	128	C	G128C	Likely benign	0	2	5	100
MUT:FOXG1:Gly148Ala	PROT:P55316	FOXG1	G	148	A	G148A	Benign	0	1	5	80
MUT:FOXG1:Gly148Asp	PROT:P55316	FOXG1	G	148	D	G148D	Benign	0	1	5	80
MUT:FOXG1:Gly152Ala	PROT:P55316	FOXG1	G	152	A	G152A	Benign	0	1	5	76
MUT:FOXG1:Gly152Arg	PROT:P55316	FOXG1	G	152	R	G152R	Benign	0	1	5	76
MUT:FOXG1:Gly152Trp	PROT:P55316	FOXG1	G	152	W	G152W	Benign	0	1	5	76
MUT:FOXG1:Gly153Trp	PROT:P55316	FOXG1	G	153	W	G153W	Benign	0	1	5	75
MUT:FOXG1:Gly168Ala	PROT:P55316	FOXG1	G	168	A	G168A	Benign	0	2	5	60
MUT:FOXG1:Gly224Ser	PROT:P55316	FOXG1	G	224	S	G224S	Likely pathogenic	1	2	5	4
MUT:FOXG1:Gly250Arg	PROT:P55316	FOXG1	G	250	R	G250R	Pathogenic	1	1	5	4
MUT:FOXG1:Gly250Asp	PROT:P55316	FOXG1	G	250	D	G250D	Likely pathogenic	1	1	5	4
MUT:FOXG1:Gly250Ser	PROT:P55316	FOXG1	G	250	S	G250S	Likely pathogenic	1	1	5	4
MUT:FOXG1:Gly252Asp	PROT:P55316	FOXG1	G	252	D	G252D	Likely pathogenic	1	1	5	6
MUT:FOXG1:Gly252Val	PROT:P55316	FOXG1	G	252	V	G252V	Likely pathogenic	1	2	5	6
MUT:FOXG1:Gly267Asp	PROT:P55316	FOXG1	G	267	D	G267D	Likely pathogenic	1	1	5	12
MUT:FOXG1:Gly267Ser	PROT:P55316	FOXG1	G	267	S	G267S	Pathogenic	1	1	5	12
MUT:FOXG1:Gly271Asp	PROT:P55316	FOXG1	G	271	D	G271D	Likely pathogenic	1	1	5	8
MUT:FOXG1:Gly271Ser	PROT:P55316	FOXG1	G	271	S	G271S	Likely pathogenic	1	1	5	8
MUT:FOXG1:Gly296Val	PROT:P55316	FOXG1	G	296	V	G296V	Likely benign	0	1	5	17
MUT:FOXG1:Gly361Ser	PROT:P55316	FOXG1	G	361	S	G361S	Likely benign	0	1	5	82
MUT:FOXG1:Gly470Val	PROT:P55316	FOXG1	G	470	V	G470V	Likely benign	0	1	5	191
MUT:FOXG1:His231Arg	PROT:P55316	FOXG1	H	231	R	H231R	Pathogenic	1	1	5	3
MUT:FOXG1:His39Tyr	PROT:P55316	FOXG1	H	39	Y	H39Y	Benign	0	1	5	20
MUT:FOXG1:His44Arg	PROT:P55316	FOXG1	H	44	R	H44R	Likely benign	0	1	5	25
MUT:FOXG1:His44Gln	PROT:P55316	FOXG1	H	44	Q	H44Q	Likely benign	0	1	5	25
MUT:FOXG1:His44Pro	PROT:P55316	FOXG1	H	44	P	H44P	Likely benign	0	1	5	25
MUT:FOXG1:Ile190Phe	PROT:P55316	FOXG1	I	190	F	I190F	Likely pathogenic	1	1	5	38
MUT:FOXG1:Ile194Ser	PROT:P55316	FOXG1	I	194	S	I194S	Likely pathogenic	1	1	5	34
MUT:FOXG1:Ile194Thr	PROT:P55316	FOXG1	I	194	T	I194T	Likely pathogenic	1	1	5	34
MUT:FOXG1:Ile207Phe	PROT:P55316	FOXG1	I	207	F	I207F	Likely pathogenic	1	1	5	21
MUT:FOXG1:Ile207Thr	PROT:P55316	FOXG1	I	207	T	I207T	Likely pathogenic	1	1	5	21
MUT:FOXG1:Ile211Thr	PROT:P55316	FOXG1	I	211	T	I211T	Pathogenic	1	1	5	17
MUT:FOXG1:Ile229Leu	PROT:P55316	FOXG1	I	229	L	I229L	Likely pathogenic	1	1	5	1
MUT:FOXG1:Ile229Lys	PROT:P55316	FOXG1	I	229	K	I229K	Likely pathogenic	1	1	5	1
MUT:FOXG1:Ile266Ser	PROT:P55316	FOXG1	I	266	S	I266S	Pathogenic	1	1	5	13
MUT:FOXG1:Ile266Thr	PROT:P55316	FOXG1	I	266	T	I266T	Pathogenic	1	1	5	13
MUT:FOXG1:Leu103Gln	PROT:P55316	FOXG1	L	103	Q	L103Q	Benign	0	1	5	84
MUT:FOXG1:Leu104Val	PROT:P55316	FOXG1	L	104	V	L104V	Benign	0	1	5	85
MUT:FOXG1:Leu116Pro	PROT:P55316	FOXG1	L	116	P	L116P	Likely benign	0	1	5	97
MUT:FOXG1:Leu189Phe	PROT:P55316	FOXG1	L	189	F	L189F	Pathogenic	1	1	5	39
MUT:FOXG1:Leu189Val	PROT:P55316	FOXG1	L	189	V	L189V	Likely pathogenic	1	1	5	39
MUT:FOXG1:Leu202Phe	PROT:P55316	FOXG1	L	202	F	L202F	Pathogenic/Likely pathogenic	1	1	5	26
MUT:FOXG1:Leu204Phe	PROT:P55316	FOXG1	L	204	F	L204F	Pathogenic/Likely pathogenic	1	1	5	24
MUT:FOXG1:Leu233Val	PROT:P55316	FOXG1	L	233	V	L233V	Likely pathogenic	1	1	5	1
MUT:FOXG1:Leu235Phe	PROT:P55316	FOXG1	L	235	F	L235F	Pathogenic/Likely pathogenic	1	2	5	1
MUT:FOXG1:Leu257Pro	PROT:P55316	FOXG1	L	257	P	L257P	Pathogenic/Likely pathogenic	1	1	5	11
MUT:FOXG1:Lys157Asn	PROT:P55316	FOXG1	K	157	N	K157N	Likely benign	0	2	5	71
MUT:FOXG1:Lys181Asn	PROT:P55316	FOXG1	K	181	N	K181N	Pathogenic/Likely pathogenic	1	1	5	47
MUT:FOXG1:Met191Arg	PROT:P55316	FOXG1	M	191	R	M191R	Likely pathogenic	1	1	5	37
MUT:FOXG1:Met191Ile	PROT:P55316	FOXG1	M	191	I	M191I	Likely pathogenic	1	1	5	37
MUT:FOXG1:Met191Leu	PROT:P55316	FOXG1	M	191	L	M191L	Likely pathogenic	1	1	5	37
MUT:FOXG1:Met212Thr	PROT:P55316	FOXG1	M	212	T	M212T	Likely pathogenic	1	1	5	16
MUT:FOXG1:Phe215Cys	PROT:P55316	FOXG1	F	215	C	F215C	Likely pathogenic	1	1	5	13
MUT:FOXG1:Phe215Ile	PROT:P55316	FOXG1	F	215	I	F215I	Likely pathogenic	1	1	5	13
MUT:FOXG1:Phe215Leu	PROT:P55316	FOXG1	F	215	L	F215L	Pathogenic/Likely pathogenic	1	1	5	13
MUT:FOXG1:Phe215Ser	PROT:P55316	FOXG1	F	215	S	F215S	Pathogenic/Likely pathogenic	1	1	5	13
MUT:FOXG1:Phe239Leu	PROT:P55316	FOXG1	F	239	L	F239L	Pathogenic	1	1	5	5
MUT:FOXG1:Pro108Leu	PROT:P55316	FOXG1	P	108	L	P108L	Likely benign	0	1	5	89
MUT:FOXG1:Pro108Ser	PROT:P55316	FOXG1	P	108	S	P108S	Benign	0	1	5	89
MUT:FOXG1:Pro109Leu	PROT:P55316	FOXG1	P	109	L	P109L	Likely benign	0	1	5	90
MUT:FOXG1:Pro110Gln	PROT:P55316	FOXG1	P	110	Q	P110Q	Benign	0	1	5	91
MUT:FOXG1:Pro182Gln	PROT:P55316	FOXG1	P	182	Q	P182Q	Pathogenic	1	1	5	46
MUT:FOXG1:Pro182Leu	PROT:P55316	FOXG1	P	182	L	P182L	Likely pathogenic	1	2	5	46
MUT:FOXG1:Pro259Arg	PROT:P55316	FOXG1	P	259	R	P259R	Pathogenic	1	1	5	13
MUT:FOXG1:Pro335Ser	PROT:P55316	FOXG1	P	335	S	P335S	Benign	0	1	5	56
MUT:FOXG1:Pro419Ser	PROT:P55316	FOXG1	P	419	S	P419S	Benign	0	1	5	140
MUT:FOXG1:Pro461Ala	PROT:P55316	FOXG1	P	461	A	P461A	Benign	0	1	5	182
MUT:FOXG1:Pro58Leu	PROT:P55316	FOXG1	P	58	L	P58L	Likely benign	0	1	5	39
MUT:FOXG1:Pro61Ser	PROT:P55316	FOXG1	P	61	S	P61S	Benign/Likely benign	0	1	5	42
MUT:FOXG1:Pro63Arg	PROT:P55316	FOXG1	P	63	R	P63R	Likely benign	0	1	5	44
MUT:FOXG1:Pro66Ala	PROT:P55316	FOXG1	P	66	A	P66A	Likely benign	0	1	5	47
MUT:FOXG1:Pro69Gln	PROT:P55316	FOXG1	P	69	Q	P69Q	Benign/Likely benign	0	2	5	50
MUT:FOXG1:Pro74Gln	PROT:P55316	FOXG1	P	74	Q	P74Q	Benign	0	1	5	55
MUT:FOXG1:Pro76Leu	PROT:P55316	FOXG1	P	76	L	P76L	Likely benign	0	1	5	57
MUT:FOXG1:Pro79Ser	PROT:P55316	FOXG1	P	79	S	P79S	Likely benign	0	1	5	60
MUT:FOXG1:Pro82Gln	PROT:P55316	FOXG1	P	82	Q	P82Q	Benign	0	1	5	63
MUT:FOXG1:Pro84His	PROT:P55316	FOXG1	P	84	H	P84H	Benign	0	1	5	65
MUT:FOXG1:Pro84Leu	PROT:P55316	FOXG1	P	84	L	P84L	Benign	0	1	5	65
MUT:FOXG1:Ser185Cys	PROT:P55316	FOXG1	S	185	C	S185C	Likely pathogenic	1	1	5	43
MUT:FOXG1:Ser185Ile	PROT:P55316	FOXG1	S	185	I	S185I	Likely pathogenic	1	1	5	43
MUT:FOXG1:Ser197Ile	PROT:P55316	FOXG1	S	197	I	S197I	Pathogenic/Likely pathogenic	1	2	5	31
MUT:FOXG1:Ser228Cys	PROT:P55316	FOXG1	S	228	C	S228C	Likely pathogenic	1	1	5	0
MUT:FOXG1:Ser234Phe	PROT:P55316	FOXG1	S	234	F	S234F	Pathogenic	1	1	5	0
MUT:FOXG1:Ser234Pro	PROT:P55316	FOXG1	S	234	P	S234P	Pathogenic/Likely pathogenic	1	1	5	0
MUT:FOXG1:Ser326Asn	PROT:P55316	FOXG1	S	326	N	S326N	Likely benign	0	1	5	47
MUT:FOXG1:Ser349Ala	PROT:P55316	FOXG1	S	349	A	S349A	Likely benign	0	1	5	70
MUT:FOXG1:Ser36Asn	PROT:P55316	FOXG1	S	36	N	S36N	Benign	0	1	5	17
MUT:FOXG1:Ser425Pro	PROT:P55316	FOXG1	S	425	P	S425P	Benign	0	1	5	146
MUT:FOXG1:Ser459Cys	PROT:P55316	FOXG1	S	459	C	S459C	Likely benign	0	1	5	180
MUT:FOXG1:Ser462Gly	PROT:P55316	FOXG1	S	462	G	S462G	Benign	0	1	5	183
MUT:FOXG1:Thr331Ala	PROT:P55316	FOXG1	T	331	A	T331A	Benign/Likely benign	0	1	5	52
MUT:FOXG1:Trp225Gly	PROT:P55316	FOXG1	W	225	G	W225G	Pathogenic/Likely pathogenic	1	1	5	3
MUT:FOXG1:Trp255Arg	PROT:P55316	FOXG1	W	255	R	W255R	Likely pathogenic	1	1	5	9
MUT:FOXG1:Trp255Cys	PROT:P55316	FOXG1	W	255	C	W255C	Pathogenic	1	1	5	9
MUT:FOXG1:Tyr218Cys	PROT:P55316	FOXG1	Y	218	C	Y218C	Pathogenic/Likely pathogenic	1	1	5	10
MUT:FOXG1:Tyr218Ser	PROT:P55316	FOXG1	Y	218	S	Y218S	Likely pathogenic	1	1	5	10
MUT:FOXG1:Tyr254Ser	PROT:P55316	FOXG1	Y	254	S	Y254S	Likely pathogenic	1	1	5	8
MUT:FOXG1:Val140Ile	PROT:P55316	FOXG1	V	140	I	V140I	Benign	0	1	5	88
MUT:FOXG1:Val264Gly	PROT:P55316	FOXG1	V	264	G	V264G	Pathogenic/Likely pathogenic	1	1	5	15
MUT:FOXG1:Val407Leu	PROT:P55316	FOXG1	V	407	L	V407L	Benign	0	1	5	128
MUT:FOXG1:Val421Phe	PROT:P55316	FOXG1	V	421	F	V421F	Likely benign	0	1	5	142
MUT:FOXH1:Asp328Glu	PROT:O75593	FOXH1	D	328	E	D328E	Benign/Likely benign	0	1	2	62
MUT:FOXH1:Glu165Gln	PROT:O75593	FOXH1	E	165	Q	E165Q	Likely pathogenic	1	1	2	100
MUT:FOXH1:Lys93Glu	PROT:O75593	FOXH1	K	93	E	K93E	Likely pathogenic	1	1	2	172
MUT:FOXH1:Phe69Leu	PROT:O75593	FOXH1	F	69	L	F69L	Likely pathogenic	1	1	2	196
MUT:FOXH1:Phe69Ser	PROT:O75593	FOXH1	F	69	S	F69S	Likely pathogenic	1	1	2	196
MUT:FOXH1:Phe70Ser	PROT:O75593	FOXH1	F	70	S	F70S	Likely pathogenic	1	1	2	195
MUT:FOXH1:Pro11His	PROT:O75593	FOXH1	P	11	H	P11H	Likely benign	0	1	2	254
MUT:FOXH1:Pro35Arg	PROT:O75593	FOXH1	P	35	R	P35R	Likely pathogenic	1	1	2	230
MUT:FOXH1:Ser113Thr	PROT:O75593	FOXH1	S	113	T	S113T	Benign/Likely benign	0	1	2	152
MUT:FOXH1:Thr125Ser	PROT:O75593	FOXH1	T	125	S	T125S	Benign/Likely benign	0	1	2	140
MUT:FOXH1:Thr206Ile	PROT:O75593	FOXH1	T	206	I	T206I	Benign	0	1	2	59
MUT:FOXH1:Val112Met	PROT:O75593	FOXH1	V	112	M	V112M	Likely benign	0	1	2	153
MUT:FOXI1:Ala275Thr	PROT:Q12951	FOXI1	A	275	T	A275T	Likely benign	0	1	9	19
MUT:FOXI1:Arg213Leu	PROT:Q12951	FOXI1	R	213	L	R213L	Likely pathogenic	1	1	9	7
MUT:FOXI1:Pro44Leu	PROT:Q12951	FOXI1	P	44	L	P44L	Likely benign	0	1	9	34
MUT:FOXI1:Ser293Arg	PROT:Q12951	FOXI1	S	293	R	S293R	Likely pathogenic	1	1	9	37
MUT:FOXI1:Tyr126Asn	PROT:Q12951	FOXI1	Y	126	N	Y126N	Likely pathogenic	1	1	9	0
MUT:FOXI1:Tyr31Cys	PROT:Q12951	FOXI1	Y	31	C	Y31C	Likely pathogenic	1	1	9	21
MUT:FOXI3:Ala50Pro	PROT:A8MTJ6	FOXI3	A	50	P	A50P	Likely benign	0	1	2	148
MUT:FOXI3:Arg235Cys	PROT:A8MTJ6	FOXI3	R	235	C	R235C	Likely pathogenic	1	1	2	10
MUT:FOXI3:Arg236Trp	PROT:A8MTJ6	FOXI3	R	236	W	R236W	Likely pathogenic	1	2	2	9
MUT:FOXI3:Cys225Arg	PROT:A8MTJ6	FOXI3	C	225	R	C225R	Likely pathogenic	1	1	2	20
MUT:FOXI3:Leu199Arg	PROT:A8MTJ6	FOXI3	L	199	R	L199R	Likely pathogenic	1	1	2	1
MUT:FOXI3:Phe102Tyr	PROT:A8MTJ6	FOXI3	F	102	Y	F102Y	Likely pathogenic	1	1	2	96
MUT:FOXI3:Phe234Val	PROT:A8MTJ6	FOXI3	F	234	V	F234V	Pathogenic/Likely pathogenic	1	2	2	11
MUT:FOXO1:Gly104Ala	PROT:Q12778	FOXO1	G	104	A	G104A	Likely benign	0	1	22	60
MUT:FOXO1:Gly161Asp	PROT:Q12778	FOXO1	G	161	D	G161D	Pathogenic	1	1	22	3
MUT:FOXP2:Ala615Thr	PROT:O15409	FOXP2	A	615	T	A615T	Benign/Likely benign	0	1	7	22
MUT:FOXP2:Arg553His	PROT:O15409	FOXP2	R	553	H	R553H	Pathogenic/Likely pathogenic	1	2	7	4
MUT:FOXP2:Asn646Ser	PROT:O15409	FOXP2	N	646	S	N646S	Likely benign	0	2	7	53
MUT:FOXP2:Asp481Asn	PROT:O15409	FOXP2	D	481	N	D481N	Benign	0	1	7	76
MUT:FOXP2:Gln165His	PROT:O15409	FOXP2	Q	165	H	Q165H	Likely benign	0	1	7	90
MUT:FOXP2:Gly473Glu	PROT:O15409	FOXP2	G	473	E	G473E	Likely pathogenic	1	1	7	84
MUT:FOXP2:Gly661Asp	PROT:O15409	FOXP2	G	661	D	G661D	Benign	0	1	7	68
MUT:FOXP2:Met487Val	PROT:O15409	FOXP2	M	487	V	M487V	Likely benign	0	1	7	70
MUT:FOXP2:Ser13Gly	PROT:O15409	FOXP2	S	13	G	S13G	Likely benign	0	1	7	58
MUT:FOXP2:Tyr509Cys	PROT:O15409	FOXP2	Y	509	C	Y509C	Likely pathogenic	1	1	7	48
MUT:FRA10AC1:Ile227Val	PROT:Q70Z53	FRA10AC1	I	227	V	I227V	Likely benign	0	1	6	24
MUT:FRA10AC1:Leu274Val	PROT:Q70Z53	FRA10AC1	L	274	V	L274V	Likely benign	0	1	6	4
MUT:FRA10AC1:Lys96Arg	PROT:Q70Z53	FRA10AC1	K	96	R	K96R	Likely benign	0	1	6	7
MUT:FRMD4A:Asn1022Ile	PROT:Q9P2Q2	FRMD4A	N	1022	I	N1022I	Benign	0	1	21	116
MUT:FRMD4A:Gln37Arg	PROT:Q9P2Q2	FRMD4A	Q	37	R	Q37R	Likely pathogenic	1	1	21	29
MUT:FRMD5:Ser351Asn	PROT:Q7Z6J6	FRMD5	S	351	N	S351N	Likely pathogenic	1	1	12	0
MUT:FRMD5:Ser351Gly	PROT:Q7Z6J6	FRMD5	S	351	G	S351G	Pathogenic	1	1	12	0
MUT:FRMD5:Ser354Pro	PROT:Q7Z6J6	FRMD5	S	354	P	S354P	Pathogenic	1	1	12	0
MUT:FRMD5:Ser375Phe	PROT:Q7Z6J6	FRMD5	S	375	F	S375F	Likely pathogenic	1	1	12	0
MUT:FRMD7:Ala194Thr	PROT:Q6ZUT3	FRMD7	A	194	T	A194T	Pathogenic/Likely pathogenic	1	1	6	66
MUT:FRMD7:Arg229Gly	PROT:Q6ZUT3	FRMD7	R	229	G	R229G	Pathogenic	1	1	6	31
MUT:FRMD7:Arg261Gln	PROT:Q6ZUT3	FRMD7	R	261	Q	R261Q	Pathogenic/Likely pathogenic	1	1	6	1
MUT:FRMD7:Arg468His	PROT:Q6ZUT3	FRMD7	R	468	H	R468H	Benign	0	1	6	124
MUT:FRMD7:Cys271Tyr	PROT:Q6ZUT3	FRMD7	C	271	Y	C271Y	Pathogenic	1	1	6	11
MUT:FRMD7:Gly24Arg	PROT:Q6ZUT3	FRMD7	G	24	R	G24R	Pathogenic	1	1	6	236
MUT:FRMD7:His520Asp	PROT:Q6ZUT3	FRMD7	H	520	D	H520D	Benign	0	1	6	72
MUT:FRMD7:Leu142Arg	PROT:Q6ZUT3	FRMD7	L	142	R	L142R	Pathogenic/Likely pathogenic	1	1	6	118
MUT:FRMD7:Leu231Val	PROT:Q6ZUT3	FRMD7	L	231	V	L231V	Pathogenic	1	1	6	29
MUT:FRMD7:Met186Val	PROT:Q6ZUT3	FRMD7	M	186	V	M186V	Pathogenic	1	1	6	74
MUT:FRMD7:Met1Ile	PROT:Q6ZUT3	FRMD7	M	1	I	M1I	Pathogenic	1	1	6	259
MUT:FRMD7:Met491Ile	PROT:Q6ZUT3	FRMD7	M	491	I	M491I	Benign	0	1	6	101
MUT:FRMD7:Phe267Val	PROT:Q6ZUT3	FRMD7	F	267	V	F267V	Likely pathogenic	1	1	6	7
MUT:FRMD7:Phe278Leu	PROT:Q6ZUT3	FRMD7	F	278	L	F278L	Likely pathogenic	1	1	6	17
MUT:FRMD7:Ser281Leu	PROT:Q6ZUT3	FRMD7	S	281	L	S281L	Benign	0	1	6	14
MUT:FRMD7:Tyr301Cys	PROT:Q6ZUT3	FRMD7	Y	301	C	Y301C	Likely pathogenic	1	2	6	1
MUT:FRYL:Ala1285Thr	PROT:O94915	FRYL	A	1285	T	A1285T	Benign	0	1	34	229
MUT:FRYL:Gln753Arg	PROT:O94915	FRYL	Q	753	R	Q753R	Likely benign	0	3	34	45
MUT:FRYL:Ile1878Val	PROT:O94915	FRYL	I	1878	V	I1878V	Benign	0	13	34	41
MUT:FRYL:Ile2584Val	PROT:O94915	FRYL	I	2584	V	I2584V	Likely benign	0	1	34	18
MUT:FRYL:Lys810Arg	PROT:O94915	FRYL	K	810	R	K810R	Benign	0	2	34	9
MUT:FSCN2:Arg148Trp	PROT:O14926	FSCN2	R	148	W	R148W	Benign	0	2	4	107
MUT:FSCN2:Arg180Trp	PROT:O14926	FSCN2	R	180	W	R180W	Benign/Likely benign	0	3	4	139
MUT:FSCN2:Gly472Ala	PROT:O14926	FSCN2	G	472	A	G472A	Likely pathogenic	1	1	4	1
MUT:FSCN2:Phe367Leu	PROT:O14926	FSCN2	F	367	L	F367L	Likely benign	0	1	4	36
MUT:FSCN2:Pro231Ser	PROT:O14926	FSCN2	P	231	S	P231S	Likely benign	0	1	4	172
MUT:FSCN2:Val17Ile	PROT:O14926	FSCN2	V	17	I	V17I	Likely benign	0	1	4	22
MUT:FSHB:Cys100Arg	PROT:P01225	FSHB	C	100	R	C100R	Pathogenic	1	1	1	24
MUT:FSHB:Cys69Gly	PROT:P01225	FSHB	C	69	G	C69G	Pathogenic	1	1	1	7
MUT:FSHR:Ala189Val	PROT:P23945	FSHR	A	189	V	A189V	Pathogenic	1	1	4	37
MUT:FSHR:Ala307Thr	PROT:P23945	FSHR	A	307	T	A307T	Benign	0	2	4	57
MUT:FSHR:Ala419Thr	PROT:P23945	FSHR	A	419	T	A419T	Pathogenic	1	1	4	169
MUT:FSHR:Ala462Pro	PROT:P23945	FSHR	A	462	P	A462P	Likely pathogenic	1	1	4	198
MUT:FSHR:Ala575Val	PROT:P23945	FSHR	A	575	V	A575V	Likely pathogenic	1	1	4	85
MUT:FSHR:Ala621Val	PROT:P23945	FSHR	A	621	V	A621V	Likely pathogenic	1	1	4	39
MUT:FSHR:Arg573Cys	PROT:P23945	FSHR	R	573	C	R573C	Pathogenic	1	1	4	87
MUT:FSHR:Asp224Val	PROT:P23945	FSHR	D	224	V	D224V	Likely pathogenic	1	1	4	2
MUT:FSHR:Asp567Asn	PROT:P23945	FSHR	D	567	N	D567N	Pathogenic	1	1	4	93
MUT:FSHR:Glu466Lys	PROT:P23945	FSHR	E	466	K	E466K	Likely pathogenic	1	1	4	194
MUT:FSHR:Ile374Asn	PROT:P23945	FSHR	I	374	N	I374N	Likely pathogenic	1	2	4	124
MUT:FSHR:Ile545Thr	PROT:P23945	FSHR	I	545	T	I545T	Pathogenic	1	1	4	115
MUT:FSHR:Ile545Val	PROT:P23945	FSHR	I	545	V	I545V	Likely benign	0	1	4	115
MUT:FSHR:Ile588Thr	PROT:P23945	FSHR	I	588	T	I588T	Likely pathogenic	1	1	4	72
MUT:FSHR:Leu125Arg	PROT:P23945	FSHR	L	125	R	L125R	Likely pathogenic	1	1	4	101
MUT:FSHR:Leu149Phe	PROT:P23945	FSHR	L	149	F	L149F	Likely pathogenic	1	1	4	77
MUT:FSHR:Leu601Val	PROT:P23945	FSHR	L	601	V	L601V	Likely pathogenic	1	1	4	59
MUT:FSHR:Met1Thr	PROT:P23945	FSHR	M	1	T	M1T	Pathogenic	1	1	4	225
MUT:FSHR:Pro348Arg	PROT:P23945	FSHR	P	348	R	P348R	Likely pathogenic	1	1	4	98
MUT:FSHR:Pro519Thr	PROT:P23945	FSHR	P	519	T	P519T	Pathogenic	1	1	4	141
MUT:FSHR:Pro587His	PROT:P23945	FSHR	P	587	H	P587H	Pathogenic/Likely pathogenic	1	1	4	73
MUT:FSHR:Ser128Tyr	PROT:P23945	FSHR	S	128	Y	S128Y	Pathogenic	1	1	4	98
MUT:FSHR:Ser295Phe	PROT:P23945	FSHR	S	295	F	S295F	Likely pathogenic	1	1	4	45
MUT:FSHR:Ser673Pro	PROT:P23945	FSHR	S	673	P	S673P	Likely benign	0	1	4	13
MUT:FSHR:Ser680Asn	PROT:P23945	FSHR	S	680	N	S680N	Benign	0	2	4	20
MUT:FSHR:Thr228Ile	PROT:P23945	FSHR	T	228	I	T228I	Likely pathogenic	1	1	4	0
MUT:FSHR:Thr449Ala	PROT:P23945	FSHR	T	449	A	T449A	Pathogenic	1	1	4	199
MUT:FSHR:Thr449Ile	PROT:P23945	FSHR	T	449	I	T449I	Pathogenic	1	1	4	199
MUT:FSHR:Val221Gly	PROT:P23945	FSHR	V	221	G	V221G	Likely pathogenic	1	1	4	5
MUT:FTCD:Ala438Val	PROT:O95954	FTCD	A	438	V	A438V	Benign	0	1	4	11
MUT:FTCD:Arg136Gln	PROT:O95954	FTCD	R	136	Q	R136Q	Benign/Likely benign	0	1	4	180
MUT:FTCD:Arg215Cys	PROT:O95954	FTCD	R	215	C	R215C	Likely benign	0	2	4	101
MUT:FTCD:Arg446Gln	PROT:O95954	FTCD	R	446	Q	R446Q	Benign	0	1	4	3
MUT:FTCD:Arg470Gln	PROT:O95954	FTCD	R	470	Q	R470Q	Likely benign	0	1	4	21
MUT:FTCD:Asp157Val	PROT:O95954	FTCD	D	157	V	D157V	Likely benign	0	1	4	159
MUT:FTCD:Glu128Lys	PROT:O95954	FTCD	E	128	K	E128K	Benign	0	3	4	188
MUT:FTCD:Glu400Lys	PROT:O95954	FTCD	E	400	K	E400K	Likely benign	0	1	4	14
MUT:FTCD:Gly32Cys	PROT:O95954	FTCD	G	32	C	G32C	Benign/Likely benign	0	1	4	284
MUT:FTCD:Gly336Val	PROT:O95954	FTCD	G	336	V	G336V	Likely benign	0	1	4	12
MUT:FTCD:Lys151Met	PROT:O95954	FTCD	K	151	M	K151M	Benign	0	1	4	165
MUT:FTCD:Thr390Ala	PROT:O95954	FTCD	T	390	A	T390A	Benign/Likely benign	0	1	4	4
MUT:FTCD:Thr407Lys	PROT:O95954	FTCD	T	407	K	T407K	Benign/Likely benign	0	1	4	21
MUT:FTCD:Thr564Lys	PROT:O95954	FTCD	T	564	K	T564K	Likely benign	0	1	4	115
MUT:FTCD:Val101Met	PROT:O95954	FTCD	V	101	M	V101M	Benign	0	2	4	215
MUT:FTL:Ala96Thr	PROT:P02792	FTL	A	96	T	A96T	Pathogenic	1	1	8	2
MUT:FTL:His174Tyr	PROT:P02792	FTL	H	174	Y	H174Y	Likely benign	0	1	8	9
MUT:FTL:Thr30Ile	PROT:P02792	FTL	T	30	I	T30I	Pathogenic/Likely pathogenic	1	2	8	27
MUT:FTO:Ala134Thr	PROT:Q9C0B1	FTO	A	134	T	A134T	Benign	0	1	18	13
MUT:FTO:Ala405Val	PROT:Q9C0B1	FTO	A	405	V	A405V	Benign	0	1	18	50
MUT:FTO:Arg316Gln	PROT:Q9C0B1	FTO	R	316	Q	R316Q	Likely pathogenic	1	1	18	39
MUT:FTO:Asp144Asn	PROT:Q9C0B1	FTO	D	144	N	D144N	Likely benign	0	1	18	6
MUT:FTO:Gly182Ala	PROT:Q9C0B1	FTO	G	182	A	G182A	Benign/Likely benign	0	1	18	2
MUT:FTO:Ser319Phe	PROT:Q9C0B1	FTO	S	319	F	S319F	Pathogenic	1	1	18	36
MUT:FTSJ1:Ala194Thr	PROT:Q9UET6	FTSJ1	A	194	T	A194T	Likely benign	0	1	13	30
MUT:FTSJ1:Asp219Asn	PROT:Q9UET6	FTSJ1	D	219	N	D219N	Pathogenic	1	1	13	42
MUT:FTSJ1:Cys196Tyr	PROT:Q9UET6	FTSJ1	C	196	Y	C196Y	Likely pathogenic	1	1	13	32
MUT:FTSJ1:Ile102Phe	PROT:Q9UET6	FTSJ1	I	102	F	I102F	Benign	0	1	13	59
MUT:FTSJ1:Leu166Ile	PROT:Q9UET6	FTSJ1	L	166	I	L166I	Likely benign	0	1	13	2
MUT:FTSJ1:Ser298Asn	PROT:Q9UET6	FTSJ1	S	298	N	S298N	Benign/Likely benign	0	1	13	4
MUT:FTSJ1:Ser54Thr	PROT:Q9UET6	FTSJ1	S	54	T	S54T	Likely pathogenic	1	1	13	11
MUT:FTSJ1:Tyr12Asn	PROT:Q9UET6	FTSJ1	Y	12	N	Y12N	Pathogenic	1	1	13	16
MUT:FUCA1:Ala11Val	PROT:P04066	FUCA1	A	11	V	A11V	Likely benign	0	1	2	159
MUT:FUCA1:Ala3Pro	PROT:P04066	FUCA1	A	3	P	A3P	Benign/Likely benign	0	2	2	167
MUT:FUCA1:Arg178Cys	PROT:P04066	FUCA1	R	178	C	R178C	Likely benign	0	2	2	4
MUT:FUCA1:Arg2Trp	PROT:P04066	FUCA1	R	2	W	R2W	Benign	0	8	2	168
MUT:FUCA1:Arg376Gln	PROT:P04066	FUCA1	R	376	Q	R376Q	Benign	0	5	2	194
MUT:FUCA1:Asn365Asp	PROT:P04066	FUCA1	N	365	D	N365D	Likely benign	0	1	2	183
MUT:FUCA1:Gln286Arg	PROT:P04066	FUCA1	Q	286	R	Q286R	Benign	0	2	2	104
MUT:FUCA1:Glu140Lys	PROT:P04066	FUCA1	E	140	K	E140K	Likely pathogenic	1	1	2	30
MUT:FUCA1:Gly231Arg	PROT:P04066	FUCA1	G	231	R	G231R	Likely pathogenic	1	1	2	49
MUT:FUCA1:Gly23Arg	PROT:P04066	FUCA1	G	23	R	G23R	Benign	0	1	2	147
MUT:FUCA1:Gly332Glu	PROT:P04066	FUCA1	G	332	E	G332E	Pathogenic	1	1	2	150
MUT:FUCA1:Gly65Asp	PROT:P04066	FUCA1	G	65	D	G65D	Pathogenic	1	1	2	105
MUT:FUCA1:Leu134Phe	PROT:P04066	FUCA1	L	134	F	L134F	Benign/Likely benign	0	2	2	36
MUT:FUCA1:Leu410Arg	PROT:P04066	FUCA1	L	410	R	L410R	Likely pathogenic	1	1	2	228
MUT:FUCA1:Pro10Arg	PROT:P04066	FUCA1	P	10	R	P10R	Benign	0	1	2	160
MUT:FUCA1:Pro13Ala	PROT:P04066	FUCA1	P	13	A	P13A	Likely benign	0	1	2	157
MUT:FUCA1:Pro146Leu	PROT:P04066	FUCA1	P	146	L	P146L	Benign/Likely benign	0	2	2	24
MUT:FUCA1:Ser155Phe	PROT:P04066	FUCA1	S	155	F	S155F	Pathogenic	1	1	2	15
MUT:FUCA1:Ser221Arg	PROT:P04066	FUCA1	S	221	R	S221R	Likely benign	0	1	2	39
MUT:FUCA1:Ser221Gly	PROT:P04066	FUCA1	S	221	G	S221G	Likely benign	0	1	2	39
MUT:FUCA1:Ser68Leu	PROT:P04066	FUCA1	S	68	L	S68L	Likely pathogenic	1	1	2	102
MUT:FUCA1:Thr383Ile	PROT:P04066	FUCA1	T	383	I	T383I	Benign/Likely benign	0	2	2	201
MUT:FUCA1:Val260Ile	PROT:P04066	FUCA1	V	260	I	V260I	Likely benign	0	3	2	78
MUT:FUCA1:Val358Leu	PROT:P04066	FUCA1	V	358	L	V358L	Likely benign	0	1	2	176
MUT:FUCA1:Val452Leu	PROT:P04066	FUCA1	V	452	L	V452L	Likely benign	0	1	2	270
MUT:FUT8:Arg318Gln	PROT:Q9BYC5	FUT8	R	318	Q	R318Q	Likely benign	0	1	2	40
MUT:FUT8:Arg337Gly	PROT:Q9BYC5	FUT8	R	337	G	R337G	Pathogenic	1	1	2	59
MUT:FUT8:Gln96Arg	PROT:Q9BYC5	FUT8	Q	96	R	Q96R	Benign	0	1	2	47
MUT:FUT8:Leu153Val	PROT:Q9BYC5	FUT8	L	153	V	L153V	Benign	0	1	2	104
MUT:FUT8:Thr267Lys	PROT:Q9BYC5	FUT8	T	267	K	T267K	Benign	0	2	2	11
MUT:FUT8:Val317Ile	PROT:Q9BYC5	FUT8	V	317	I	V317I	Likely benign	0	1	2	39
MUT:FXN:Asn146Lys	PROT:Q16595	FXN	N	146	K	N146K	Pathogenic	1	1	5	14
MUT:FXN:Gly137Val	PROT:Q16595	FXN	G	137	V	G137V	Likely pathogenic	1	1	5	19
MUT:FXN:Ile154Phe	PROT:Q16595	FXN	I	154	F	I154F	Pathogenic	1	2	5	6
MUT:FXN:Met1Ile	PROT:Q16595	FXN	M	1	I	M1I	Pathogenic	1	2	5	80
MUT:FXN:Met76Val	PROT:Q16595	FXN	M	76	V	M76V	Benign	0	8	5	5
MUT:FXN:Ser81Thr	PROT:Q16595	FXN	S	81	T	S81T	Likely benign	0	1	5	0
MUT:FXN:Trp173Gly	PROT:Q16595	FXN	W	173	G	W173G	Likely pathogenic	1	1	5	12
MUT:FXR1:Ile591Asn	PROT:P51114	FXR1	I	591	N	I591N	Likely pathogenic	1	1	27	4
MUT:FYB1:Gln328Lys	PROT:O15117	FYB1	Q	328	K	Q328K	Benign	0	1	41	1
MUT:FYB1:Gly636Cys	PROT:O15117	FYB1	G	636	C	G636C	Likely benign	0	1	41	11
MUT:FYB1:Pro137Leu	PROT:O15117	FYB1	P	137	L	P137L	Likely benign	0	1	41	12
MUT:FYB1:Pro427Leu	PROT:O15117	FYB1	P	427	L	P427L	Likely benign	0	1	41	2
MUT:FYN:Arg96Gly	PROT:P06241	FYN	R	96	G	R96G	Pathogenic	1	1	24	5
MUT:FYN:Arg96Trp	PROT:P06241	FYN	R	96	W	R96W	Pathogenic	1	1	24	5
MUT:FYN:Thr97Ala	PROT:P06241	FYN	T	97	A	T97A	Pathogenic	1	1	24	6
MUT:FZD4:Ala351Pro	PROT:Q9ULV1	FZD4	A	351	P	A351P	Likely pathogenic	1	1	1	170
MUT:FZD4:Ala469Thr	PROT:Q9ULV1	FZD4	A	469	T	A469T	Benign	0	1	1	52
MUT:FZD4:Arg247Lys	PROT:Q9ULV1	FZD4	R	247	K	R247K	Likely pathogenic	1	1	1	274
MUT:FZD4:Arg417Gln	PROT:Q9ULV1	FZD4	R	417	Q	R417Q	Pathogenic	1	2	1	104
MUT:FZD4:Cys117Arg	PROT:Q9ULV1	FZD4	C	117	R	C117R	Likely pathogenic	1	1	1	404
MUT:FZD4:Gly57Cys	PROT:Q9ULV1	FZD4	G	57	C	G57C	Likely pathogenic	1	1	1	464
MUT:FZD4:Ile114Asn	PROT:Q9ULV1	FZD4	I	114	N	I114N	Likely pathogenic	1	1	1	407
MUT:FZD4:Ile322Phe	PROT:Q9ULV1	FZD4	I	322	F	I322F	Likely pathogenic	1	1	1	199
MUT:FZD4:Met105Val	PROT:Q9ULV1	FZD4	M	105	V	M105V	Pathogenic	1	5	1	416
MUT:FZD4:Pro168Ser	PROT:Q9ULV1	FZD4	P	168	S	P168S	Benign	0	1	1	353
MUT:FZD4:Pro33Ser	PROT:Q9ULV1	FZD4	P	33	S	P33S	Benign/Likely benign	0	1	1	488
MUT:FZD4:Thr445Arg	PROT:Q9ULV1	FZD4	T	445	R	T445R	Likely pathogenic	1	1	1	76
MUT:FZD4:Trp335Cys	PROT:Q9ULV1	FZD4	W	335	C	W335C	Pathogenic	1	1	1	186
MUT:FZD4:Tyr58Cys	PROT:Q9ULV1	FZD4	Y	58	C	Y58C	Pathogenic	1	1	1	463
MUT:FZR1:Ala362Thr	PROT:Q9UM11	FZR1	A	362	T	A362T	Likely benign	0	1	20	26
MUT:FZR1:Arg23Cys	PROT:Q9UM11	FZR1	R	23	C	R23C	Likely benign	0	1	20	7
MUT:FZR1:Asn333Lys	PROT:Q9UM11	FZR1	N	333	K	N333K	Pathogenic	1	1	20	3
MUT:FZR1:Asp187Gly	PROT:Q9UM11	FZR1	D	187	G	D187G	Pathogenic	1	1	20	14
MUT:FZR1:Val316Leu	PROT:Q9UM11	FZR1	V	316	L	V316L	Likely pathogenic	1	1	20	20
MUT:G6PD:Ala231Pro	PROT:P11413	G6PD	A	231	P	A231P	Likely pathogenic	1	1	41	18
MUT:G6PD:Ala231Thr	PROT:P11413	G6PD	A	231	T	A231T	Likely pathogenic	1	1	41	18
MUT:G6PD:Ala335Asp	PROT:P11413	G6PD	A	335	D	A335D	Pathogenic/Likely pathogenic	1	2	41	13
MUT:G6PD:Ala361Thr	PROT:P11413	G6PD	A	361	T	A361T	Likely pathogenic	1	1	41	25
MUT:G6PD:Ala365Thr	PROT:P11413	G6PD	A	365	T	A365T	Pathogenic	1	4	41	21
MUT:G6PD:Ala391Val	PROT:P11413	G6PD	A	391	V	A391V	Likely pathogenic	1	2	41	5
MUT:G6PD:Ala44Thr	PROT:P11413	G6PD	A	44	T	A44T	Pathogenic	1	1	41	4
MUT:G6PD:Ala461Thr	PROT:P11413	G6PD	A	461	T	A461T	Likely pathogenic	1	1	41	13
MUT:G6PD:Ala74Gly	PROT:P11413	G6PD	A	74	G	A74G	Pathogenic/Likely pathogenic	1	4	41	2
MUT:G6PD:Arg104His	PROT:P11413	G6PD	R	104	H	R104H	Benign/Likely benign	0	2	41	2
MUT:G6PD:Arg120His	PROT:P11413	G6PD	R	120	H	R120H	Likely benign	0	1	41	3
MUT:G6PD:Arg136Cys	PROT:P11413	G6PD	R	136	C	R136C	Pathogenic/Likely pathogenic	1	2	41	4
MUT:G6PD:Arg166Cys	PROT:P11413	G6PD	R	166	C	R166C	Pathogenic	1	1	41	5
MUT:G6PD:Arg166His	PROT:P11413	G6PD	R	166	H	R166H	Pathogenic/Likely pathogenic	1	2	41	5
MUT:G6PD:Arg17Trp	PROT:P11413	G6PD	R	17	W	R17W	Likely pathogenic	1	1	41	7
MUT:G6PD:Arg198Ser	PROT:P11413	G6PD	R	198	S	R198S	Likely pathogenic	1	1	41	4
MUT:G6PD:Arg219Gly	PROT:P11413	G6PD	R	219	G	R219G	Likely pathogenic	1	1	41	14
MUT:G6PD:Arg227Leu	PROT:P11413	G6PD	R	227	L	R227L	Pathogenic	1	1	41	22
MUT:G6PD:Arg227Trp	PROT:P11413	G6PD	R	227	W	R227W	Pathogenic/Likely pathogenic	1	2	41	22
MUT:G6PD:Arg228Cys	PROT:P11413	G6PD	R	228	C	R228C	Pathogenic	1	3	41	21
MUT:G6PD:Arg228His	PROT:P11413	G6PD	R	228	H	R228H	Pathogenic/Likely pathogenic	1	4	41	21
MUT:G6PD:Arg228Pro	PROT:P11413	G6PD	R	228	P	R228P	Likely pathogenic	1	2	41	21
MUT:G6PD:Arg246Leu	PROT:P11413	G6PD	R	246	L	R246L	Likely pathogenic	1	1	41	3
MUT:G6PD:Arg257Leu	PROT:P11413	G6PD	R	257	L	R257L	Likely pathogenic	1	3	41	8
MUT:G6PD:Arg285Cys	PROT:P11413	G6PD	R	285	C	R285C	Likely pathogenic	1	1	41	7
MUT:G6PD:Arg315His	PROT:P11413	G6PD	R	315	H	R315H	Pathogenic/Likely pathogenic	1	3	41	5
MUT:G6PD:Arg365His	PROT:P11413	G6PD	R	365	H	R365H	Likely pathogenic	1	1	41	21
MUT:G6PD:Arg393Cys	PROT:P11413	G6PD	R	393	C	R393C	Likely pathogenic	1	1	41	7
MUT:G6PD:Arg393Gly	PROT:P11413	G6PD	R	393	G	R393G	Pathogenic	1	1	41	7
MUT:G6PD:Arg3Trp	PROT:P11413	G6PD	R	3	W	R3W	Likely pathogenic	1	1	41	1
MUT:G6PD:Arg417Cys	PROT:P11413	G6PD	R	417	C	R417C	Pathogenic	1	2	41	1
MUT:G6PD:Arg417His	PROT:P11413	G6PD	R	417	H	R417H	Pathogenic	1	3	41	1
MUT:G6PD:Arg423His	PROT:P11413	G6PD	R	423	H	R423H	Pathogenic	1	4	41	1
MUT:G6PD:Arg439Cys	PROT:P11413	G6PD	R	439	C	R439C	Likely pathogenic	1	2	41	2
MUT:G6PD:Arg454Cys	PROT:P11413	G6PD	R	454	C	R454C	Pathogenic	1	3	41	6
MUT:G6PD:Arg454Leu	PROT:P11413	G6PD	R	454	L	R454L	Likely pathogenic	1	1	41	6
MUT:G6PD:Arg454Pro	PROT:P11413	G6PD	R	454	P	R454P	Pathogenic	1	1	41	6
MUT:G6PD:Arg459Cys	PROT:P11413	G6PD	R	459	C	R459C	Likely pathogenic	1	1	41	11
MUT:G6PD:Arg459Gly	PROT:P11413	G6PD	R	459	G	R459G	Likely pathogenic	1	2	41	11
MUT:G6PD:Arg463Cys	PROT:P11413	G6PD	R	463	C	R463C	Pathogenic/Likely pathogenic	1	2	41	15
MUT:G6PD:Arg463Leu	PROT:P11413	G6PD	R	463	L	R463L	Pathogenic	1	1	41	15
MUT:G6PD:Arg463Ser	PROT:P11413	G6PD	R	463	S	R463S	Likely pathogenic	1	2	41	15
MUT:G6PD:Arg484His	PROT:P11413	G6PD	R	484	H	R484H	Pathogenic/Likely pathogenic	1	2	41	2
MUT:G6PD:Arg489Leu	PROT:P11413	G6PD	R	489	L	R489L	Pathogenic	1	8	41	1
MUT:G6PD:Arg489Pro	PROT:P11413	G6PD	R	489	P	R489P	Pathogenic	1	4	41	1
MUT:G6PD:Arg493His	PROT:P11413	G6PD	R	493	H	R493H	Pathogenic	1	8	41	3
MUT:G6PD:Arg81Cys	PROT:P11413	G6PD	R	81	C	R81C	Pathogenic/Likely pathogenic	1	1	41	1
MUT:G6PD:Asn135His	PROT:P11413	G6PD	N	135	H	N135H	Likely pathogenic	1	1	41	3
MUT:G6PD:Asn135Ile	PROT:P11413	G6PD	N	135	I	N135I	Likely pathogenic	1	1	41	3
MUT:G6PD:Asn135Ser	PROT:P11413	G6PD	N	135	S	N135S	Likely pathogenic	1	1	41	3
MUT:G6PD:Asn135Thr	PROT:P11413	G6PD	N	135	T	N135T	Pathogenic	1	3	41	3
MUT:G6PD:Asn195Asp	PROT:P11413	G6PD	N	195	D	N195D	Pathogenic/Likely pathogenic	1	3	41	7
MUT:G6PD:Asn363Ile	PROT:P11413	G6PD	N	363	I	N363I	Pathogenic/Likely pathogenic	1	1	41	23
MUT:G6PD:Asn363Lys	PROT:P11413	G6PD	N	363	K	N363K	Pathogenic/Likely pathogenic	1	1	41	23
MUT:G6PD:Asn393Lys	PROT:P11413	G6PD	N	393	K	N393K	Likely pathogenic	1	2	41	7
MUT:G6PD:Asp176Gly	PROT:P11413	G6PD	D	176	G	D176G	Likely pathogenic	1	1	41	4
MUT:G6PD:Asp200Asn	PROT:P11413	G6PD	D	200	N	D200N	Likely pathogenic	1	1	41	2
MUT:G6PD:Asp211Val	PROT:P11413	G6PD	D	211	V	D211V	Pathogenic/Likely pathogenic	1	4	41	6
MUT:G6PD:Asp282Tyr	PROT:P11413	G6PD	D	282	Y	D282Y	Likely pathogenic	1	1	41	4
MUT:G6PD:Asp283Gly	PROT:P11413	G6PD	D	283	G	D283G	Pathogenic	1	1	41	5
MUT:G6PD:Asp312His	PROT:P11413	G6PD	D	312	H	D312H	Pathogenic/Likely pathogenic	1	6	41	8
MUT:G6PD:Asp456Asn	PROT:P11413	G6PD	D	456	N	D456N	Likely pathogenic	1	1	41	8
MUT:G6PD:Asp456His	PROT:P11413	G6PD	D	456	H	D456H	Likely pathogenic	1	1	41	8
MUT:G6PD:Asp456Val	PROT:P11413	G6PD	D	456	V	D456V	Likely pathogenic	1	1	41	8
MUT:G6PD:Asp79His	PROT:P11413	G6PD	D	79	H	D79H	Likely pathogenic	1	1	41	3
MUT:G6PD:Cys158Tyr	PROT:P11413	G6PD	C	158	Y	C158Y	Likely pathogenic	1	1	41	13
MUT:G6PD:Cys232Tyr	PROT:P11413	G6PD	C	232	Y	C232Y	Likely pathogenic	1	1	41	17
MUT:G6PD:Cys299Tyr	PROT:P11413	G6PD	C	299	Y	C299Y	Likely pathogenic	1	2	41	3
MUT:G6PD:Cys385Gly	PROT:P11413	G6PD	C	385	G	C385G	Pathogenic	1	1	41	1
MUT:G6PD:Cys385Phe	PROT:P11413	G6PD	C	385	F	C385F	Likely pathogenic	1	1	41	1
MUT:G6PD:Cys385Trp	PROT:P11413	G6PD	C	385	W	C385W	Pathogenic	1	1	41	1
MUT:G6PD:Cys415Arg	PROT:P11413	G6PD	C	415	R	C415R	Pathogenic	1	2	41	3
MUT:G6PD:Gln119Pro	PROT:P11413	G6PD	Q	119	P	Q119P	Likely pathogenic	1	1	41	4
MUT:G6PD:Gln195His	PROT:P11413	G6PD	Q	195	H	Q195H	Pathogenic	1	1	41	7
MUT:G6PD:Gln307His	PROT:P11413	G6PD	Q	307	H	Q307H	Likely pathogenic	1	1	41	11
MUT:G6PD:Gln307Pro	PROT:P11413	G6PD	Q	307	P	Q307P	Likely pathogenic	1	1	41	11
MUT:G6PD:Gln449Arg	PROT:P11413	G6PD	Q	449	R	Q449R	Likely pathogenic	1	1	41	1
MUT:G6PD:Gln449His	PROT:P11413	G6PD	Q	449	H	Q449H	Pathogenic/Likely pathogenic	1	2	41	1
MUT:G6PD:Glu148Lys	PROT:P11413	G6PD	E	148	K	E148K	Likely pathogenic	1	1	41	16
MUT:G6PD:Glu274Lys	PROT:P11413	G6PD	E	274	K	E274K	Likely pathogenic	1	1	41	4
MUT:G6PD:Glu274Val	PROT:P11413	G6PD	E	274	V	E274V	Likely pathogenic	1	1	41	4
MUT:G6PD:Glu347Lys	PROT:P11413	G6PD	E	347	K	E347K	Pathogenic/Likely pathogenic	1	7	41	25
MUT:G6PD:Glu389Gly	PROT:P11413	G6PD	E	389	G	E389G	Likely pathogenic	1	1	41	3
MUT:G6PD:Glu398Gly	PROT:P11413	G6PD	E	398	G	E398G	Likely pathogenic	1	1	41	3
MUT:G6PD:Glu398Lys	PROT:P11413	G6PD	E	398	K	E398K	Pathogenic/Likely pathogenic	1	2	41	3
MUT:G6PD:Glu3Lys	PROT:P11413	G6PD	E	3	K	E3K	Likely pathogenic	1	1	41	1
MUT:G6PD:Glu416Lys	PROT:P11413	G6PD	E	416	K	E416K	Pathogenic/Likely pathogenic	1	1	41	2
MUT:G6PD:Glu460Asp	PROT:P11413	G6PD	E	460	D	E460D	Likely pathogenic	1	1	41	12
MUT:G6PD:Gly161Val	PROT:P11413	G6PD	G	161	V	G161V	Pathogenic/Likely pathogenic	1	5	41	10
MUT:G6PD:Gly163Asp	PROT:P11413	G6PD	G	163	D	G163D	Likely pathogenic	1	1	41	8
MUT:G6PD:Gly193Ser	PROT:P11413	G6PD	G	193	S	G193S	Pathogenic/Likely pathogenic	1	4	41	9
MUT:G6PD:Gly204Asp	PROT:P11413	G6PD	G	204	D	G204D	Likely pathogenic	1	1	41	1
MUT:G6PD:Gly248Asp	PROT:P11413	G6PD	G	248	D	G248D	Likely pathogenic	1	1	41	1
MUT:G6PD:Gly306Ser	PROT:P11413	G6PD	G	306	S	G306S	Pathogenic	1	1	41	10
MUT:G6PD:Gly316Ser	PROT:P11413	G6PD	G	316	S	G316S	Likely pathogenic	1	1	41	4
MUT:G6PD:Gly321Glu	PROT:P11413	G6PD	G	321	E	G321E	Likely pathogenic	1	1	41	1
MUT:G6PD:Gly321Val	PROT:P11413	G6PD	G	321	V	G321V	Likely pathogenic	1	1	41	1
MUT:G6PD:Gly351Val	PROT:P11413	G6PD	G	351	V	G351V	Likely pathogenic	1	1	41	29
MUT:G6PD:Gly410Ala	PROT:P11413	G6PD	G	410	A	G410A	Likely pathogenic	1	1	41	2
MUT:G6PD:Gly440Asp	PROT:P11413	G6PD	G	440	D	G440D	Pathogenic	1	2	41	3
MUT:G6PD:Gly440Cys	PROT:P11413	G6PD	G	440	C	G440C	Pathogenic/Likely pathogenic	1	2	41	3
MUT:G6PD:Gly447Val	PROT:P11413	G6PD	G	447	V	G447V	Likely pathogenic	1	1	41	1
MUT:G6PD:Gly477Arg	PROT:P11413	G6PD	G	477	R	G477R	Pathogenic/Likely pathogenic	1	2	41	9
MUT:G6PD:Gly488Val	PROT:P11413	G6PD	G	488	V	G488V	Pathogenic	1	1	41	2
MUT:G6PD:His124Arg	PROT:P11413	G6PD	H	124	R	H124R	Likely pathogenic	1	1	41	1
MUT:G6PD:His155Asp	PROT:P11413	G6PD	H	155	D	H155D	Pathogenic/Likely pathogenic	1	1	41	16
MUT:G6PD:His155Pro	PROT:P11413	G6PD	H	155	P	H155P	Likely pathogenic	1	1	41	16
MUT:G6PD:His32Asp	PROT:P11413	G6PD	H	32	D	H32D	Likely pathogenic	1	1	41	6
MUT:G6PD:His451Tyr	PROT:P11413	G6PD	H	451	Y	H451Y	Likely pathogenic	1	1	41	3
MUT:G6PD:His62Arg	PROT:P11413	G6PD	H	62	R	H62R	Pathogenic/Likely pathogenic	1	6	41	14
MUT:G6PD:Ile196Phe	PROT:P11413	G6PD	I	196	F	I196F	Likely pathogenic	1	1	41	6
MUT:G6PD:Ile199Val	PROT:P11413	G6PD	I	199	V	I199V	Pathogenic	1	1	41	3
MUT:G6PD:Ile355Val	PROT:P11413	G6PD	I	355	V	I355V	Likely pathogenic	1	1	41	31
MUT:G6PD:Ile380Thr	PROT:P11413	G6PD	I	380	T	I380T	Pathogenic/Likely pathogenic	1	1	41	6
MUT:G6PD:Ile380Val	PROT:P11413	G6PD	I	380	V	I380V	Pathogenic	1	1	41	6
MUT:G6PD:Ile392Ser	PROT:P11413	G6PD	I	392	S	I392S	Likely pathogenic	1	2	41	6
MUT:G6PD:Ile392Thr	PROT:P11413	G6PD	I	392	T	I392T	Likely pathogenic	1	1	41	6
MUT:G6PD:Ile480Phe	PROT:P11413	G6PD	I	480	F	I480F	Likely pathogenic	1	1	41	6
MUT:G6PD:Ile78Thr	PROT:P11413	G6PD	I	78	T	I78T	Pathogenic/Likely pathogenic	1	5	41	2
MUT:G6PD:Leu128Arg	PROT:P11413	G6PD	L	128	R	L128R	Pathogenic/Likely pathogenic	1	2	41	4
MUT:G6PD:Leu128Pro	PROT:P11413	G6PD	L	128	P	L128P	Pathogenic/Likely pathogenic	1	3	41	4
MUT:G6PD:Leu137Phe	PROT:P11413	G6PD	L	137	F	L137F	Likely pathogenic	1	2	41	5
MUT:G6PD:Leu323Pro	PROT:P11413	G6PD	L	323	P	L323P	Pathogenic/Likely pathogenic	1	4	41	1
MUT:G6PD:Leu356Gln	PROT:P11413	G6PD	L	356	Q	L356Q	Likely pathogenic	1	1	41	30
MUT:G6PD:Leu440Phe	PROT:P11413	G6PD	L	440	F	L440F	Pathogenic/Likely pathogenic	1	1	41	3
MUT:G6PD:Leu458Phe	PROT:P11413	G6PD	L	458	F	L458F	Likely pathogenic	1	1	41	10
MUT:G6PD:Leu60Pro	PROT:P11413	G6PD	L	60	P	L60P	Likely pathogenic	1	1	41	16
MUT:G6PD:Leu75Pro	PROT:P11413	G6PD	L	75	P	L75P	Likely pathogenic	1	1	41	1
MUT:G6PD:Lys238Arg	PROT:P11413	G6PD	K	238	R	K238R	Pathogenic	1	1	41	11
MUT:G6PD:Lys275Asn	PROT:P11413	G6PD	K	275	N	K275N	Likely pathogenic	1	1	41	3
MUT:G6PD:Lys407Thr	PROT:P11413	G6PD	K	407	T	K407T	Pathogenic	1	1	41	1
MUT:G6PD:Lys416Glu	PROT:P11413	G6PD	K	416	E	K416E	Pathogenic/Likely pathogenic	1	6	41	2
MUT:G6PD:Lys97Met	PROT:P11413	G6PD	K	97	M	K97M	Likely pathogenic	1	1	41	0
MUT:G6PD:Met125Ile	PROT:P11413	G6PD	M	125	I	M125I	Likely benign	0	1	41	2
MUT:G6PD:Met405Ile	PROT:P11413	G6PD	M	405	I	M405I	Pathogenic	1	1	41	2
MUT:G6PD:Phe173Leu	PROT:P11413	G6PD	F	173	L	F173L	Pathogenic	1	2	41	2
MUT:G6PD:Phe191Leu	PROT:P11413	G6PD	F	191	L	F191L	Likely pathogenic	1	1	41	11
MUT:G6PD:Phe203Leu	PROT:P11413	G6PD	F	203	L	F203L	Pathogenic	1	3	41	1
MUT:G6PD:Phe246Leu	PROT:P11413	G6PD	F	246	L	F246L	Likely pathogenic	1	2	41	3
MUT:G6PD:Phe373Ser	PROT:P11413	G6PD	F	373	S	F373S	Pathogenic	1	1	41	13
MUT:G6PD:Phe381Ile	PROT:P11413	G6PD	F	381	I	F381I	Likely pathogenic	1	1	41	5
MUT:G6PD:Phe381Leu	PROT:P11413	G6PD	F	381	L	F381L	Pathogenic	1	1	41	5
MUT:G6PD:Phe445Ser	PROT:P11413	G6PD	F	445	S	F445S	Likely pathogenic	1	1	41	3
MUT:G6PD:Phe66Cys	PROT:P11413	G6PD	F	66	C	F66C	Likely pathogenic	1	1	41	10
MUT:G6PD:Phe88Leu	PROT:P11413	G6PD	F	88	L	F88L	Likely benign	0	1	41	6
MUT:G6PD:Pro144Ala	PROT:P11413	G6PD	P	144	A	P144A	Likely pathogenic	1	1	41	12
MUT:G6PD:Pro172Ser	PROT:P11413	G6PD	P	172	S	P172S	Likely pathogenic	1	1	41	1
MUT:G6PD:Pro276Leu	PROT:P11413	G6PD	P	276	L	P276L	Pathogenic	1	1	41	2
MUT:G6PD:Pro276Ser	PROT:P11413	G6PD	P	276	S	P276S	Likely pathogenic	1	1	41	2
MUT:G6PD:Pro383Ser	PROT:P11413	G6PD	P	383	S	P383S	Pathogenic	1	3	41	3
MUT:G6PD:Pro396Ala	PROT:P11413	G6PD	P	396	A	P396A	Pathogenic/Likely pathogenic	1	1	41	5
MUT:G6PD:Pro396Arg	PROT:P11413	G6PD	P	396	R	P396R	Pathogenic/Likely pathogenic	1	1	41	5
MUT:G6PD:Pro409Arg	PROT:P11413	G6PD	P	409	R	P409R	Pathogenic	1	1	41	1
MUT:G6PD:Pro409Gln	PROT:P11413	G6PD	P	409	Q	P409Q	Pathogenic	1	1	41	1
MUT:G6PD:Pro409Ser	PROT:P11413	G6PD	P	409	S	P409S	Pathogenic	1	1	41	1
MUT:G6PD:Pro489Ser	PROT:P11413	G6PD	P	489	S	P489S	Pathogenic	1	1	41	1
MUT:G6PD:Pro497Arg	PROT:P11413	G6PD	P	497	R	P497R	Likely pathogenic	1	2	41	7
MUT:G6PD:Pro50Ser	PROT:P11413	G6PD	P	50	S	P50S	Likely pathogenic	1	2	41	10
MUT:G6PD:Pro62His	PROT:P11413	G6PD	P	62	H	P62H	Likely pathogenic	1	1	41	14
MUT:G6PD:Pro62Leu	PROT:P11413	G6PD	P	62	L	P62L	Likely pathogenic	1	1	41	14
MUT:G6PD:Pro92Ser	PROT:P11413	G6PD	P	92	S	P92S	Likely pathogenic	1	1	41	5
MUT:G6PD:Ser179Asn	PROT:P11413	G6PD	S	179	N	S179N	Pathogenic	1	1	41	1
MUT:G6PD:Ser184Cys	PROT:P11413	G6PD	S	184	C	S184C	Pathogenic	1	1	41	4
MUT:G6PD:Ser184Phe	PROT:P11413	G6PD	S	184	F	S184F	Pathogenic	1	1	41	4
MUT:G6PD:Ser218Phe	PROT:P11413	G6PD	S	218	F	S218F	Pathogenic/Likely pathogenic	1	10	41	13
MUT:G6PD:Ser278Phe	PROT:P11413	G6PD	S	278	F	S278F	Likely pathogenic	1	1	41	0
MUT:G6PD:Ser278Pro	PROT:P11413	G6PD	S	278	P	S278P	Likely pathogenic	1	1	41	0
MUT:G6PD:Ser332Phe	PROT:P11413	G6PD	S	332	F	S332F	Likely pathogenic	1	1	41	10
MUT:G6PD:Ser448Gly	PROT:P11413	G6PD	S	448	G	S448G	Likely pathogenic	1	1	41	0
MUT:G6PD:Thr279Ala	PROT:P11413	G6PD	T	279	A	T279A	Likely pathogenic	1	1	41	1
MUT:G6PD:Thr336Ala	PROT:P11413	G6PD	T	336	A	T336A	Likely pathogenic	1	1	41	14
MUT:G6PD:Thr402Asn	PROT:P11413	G6PD	T	402	N	T402N	Pathogenic	1	1	41	0
MUT:G6PD:Tyr100His	PROT:P11413	G6PD	Y	100	H	Y100H	Pathogenic/Likely pathogenic	1	2	41	3
MUT:G6PD:Tyr118His	PROT:P11413	G6PD	Y	118	H	Y118H	Likely pathogenic	1	1	41	5
MUT:G6PD:Tyr118Ser	PROT:P11413	G6PD	Y	118	S	Y118S	Likely pathogenic	1	1	41	5
MUT:G6PD:Tyr352His	PROT:P11413	G6PD	Y	352	H	Y352H	Likely pathogenic	1	2	41	30
MUT:G6PD:Tyr70Cys	PROT:P11413	G6PD	Y	70	C	Y70C	Pathogenic/Likely pathogenic	1	2	41	6
MUT:G6PD:Val108Glu	PROT:P11413	G6PD	V	108	E	V108E	Pathogenic	1	1	41	1
MUT:G6PD:Val12Leu	PROT:P11413	G6PD	V	12	L	V12L	Likely pathogenic	1	1	41	2
MUT:G6PD:Val150Ile	PROT:P11413	G6PD	V	150	I	V150I	Likely pathogenic	1	3	41	18
MUT:G6PD:Val233Leu	PROT:P11413	G6PD	V	233	L	V233L	Likely pathogenic	1	1	41	16
MUT:G6PD:Val243Leu	PROT:P11413	G6PD	V	243	L	V243L	Pathogenic/Likely pathogenic	1	4	41	6
MUT:G6PD:Val271Leu	PROT:P11413	G6PD	V	271	L	V271L	Likely pathogenic	1	1	41	7
MUT:G6PD:Val284Ala	PROT:P11413	G6PD	V	284	A	V284A	Likely pathogenic	1	1	41	6
MUT:G6PD:Val304Phe	PROT:P11413	G6PD	V	304	F	V304F	Likely pathogenic	1	1	41	8
MUT:G6PD:Val321Met	PROT:P11413	G6PD	V	321	M	V321M	Pathogenic/Likely pathogenic	1	7	41	1
MUT:G6PD:Val328Met	PROT:P11413	G6PD	V	328	M	V328M	Likely pathogenic	1	1	41	6
MUT:G6PD:Val344Met	PROT:P11413	G6PD	V	344	M	V344M	Likely pathogenic	1	1	41	22
MUT:G6PD:Val424Leu	PROT:P11413	G6PD	V	424	L	V424L	Likely pathogenic	1	2	41	0
MUT:G6PD:Val431Gly	PROT:P11413	G6PD	V	431	G	V431G	Pathogenic	1	1	41	1
MUT:G6PD:Val453Glu	PROT:P11413	G6PD	V	453	E	V453E	Likely pathogenic	1	1	41	5
MUT:G6PD:Val98Met	PROT:P11413	G6PD	V	98	M	V98M	Pathogenic/Likely pathogenic	1	4	41	1
MUT:GAA:Ala486Pro	PROT:P10253	GAA	A	486	P	A486P	Likely pathogenic	1	1	10	48
MUT:GAA:Ala486Ser	PROT:P10253	GAA	A	486	S	A486S	Likely pathogenic	1	1	10	48
MUT:GAA:Ala555Pro	PROT:P10253	GAA	A	555	P	A555P	Likely pathogenic	1	1	10	117
MUT:GAA:Ala555Val	PROT:P10253	GAA	A	555	V	A555V	Likely pathogenic	1	1	10	117
MUT:GAA:Ala610Val	PROT:P10253	GAA	A	610	V	A610V	Pathogenic	1	1	10	66
MUT:GAA:Ala724Asp	PROT:P10253	GAA	A	724	D	A724D	Likely pathogenic	1	1	10	45
MUT:GAA:Arg106Gly	PROT:P10253	GAA	R	106	G	R106G	Likely pathogenic	1	1	10	56
MUT:GAA:Arg154Pro	PROT:P10253	GAA	R	154	P	R154P	Likely pathogenic	1	1	10	8
MUT:GAA:Arg190His	PROT:P10253	GAA	R	190	H	R190H	Pathogenic/Likely pathogenic	1	1	10	28
MUT:GAA:Arg223His	PROT:P10253	GAA	R	223	H	R223H	Benign	0	1	10	12
MUT:GAA:Arg224Gln	PROT:P10253	GAA	R	224	Q	R224Q	Likely pathogenic	1	1	10	11
MUT:GAA:Arg224Leu	PROT:P10253	GAA	R	224	L	R224L	Likely pathogenic	1	1	10	11
MUT:GAA:Arg224Pro	PROT:P10253	GAA	R	224	P	R224P	Likely pathogenic	1	1	10	11
MUT:GAA:Arg224Trp	PROT:P10253	GAA	R	224	W	R224W	Pathogenic	1	2	10	11
MUT:GAA:Arg281Trp	PROT:P10253	GAA	R	281	W	R281W	Likely pathogenic	1	2	10	46
MUT:GAA:Arg375His	PROT:P10253	GAA	R	375	H	R375H	Pathogenic/Likely pathogenic	1	1	10	32
MUT:GAA:Arg375Leu	PROT:P10253	GAA	R	375	L	R375L	Pathogenic	1	1	10	32
MUT:GAA:Arg375Ser	PROT:P10253	GAA	R	375	S	R375S	Likely pathogenic	1	1	10	32
MUT:GAA:Arg437Cys	PROT:P10253	GAA	R	437	C	R437C	Pathogenic	1	1	10	1
MUT:GAA:Arg585Lys	PROT:P10253	GAA	R	585	K	R585K	Likely pathogenic	1	1	10	91
MUT:GAA:Arg594His	PROT:P10253	GAA	R	594	H	R594H	Pathogenic	1	2	10	82
MUT:GAA:Arg594Pro	PROT:P10253	GAA	R	594	P	R594P	Likely pathogenic	1	1	10	82
MUT:GAA:Arg594Ser	PROT:P10253	GAA	R	594	S	R594S	Likely pathogenic	1	1	10	82
MUT:GAA:Arg600Cys	PROT:P10253	GAA	R	600	C	R600C	Pathogenic	1	1	10	76
MUT:GAA:Arg600Gly	PROT:P10253	GAA	R	600	G	R600G	Likely pathogenic	1	1	10	76
MUT:GAA:Arg600His	PROT:P10253	GAA	R	600	H	R600H	Pathogenic	1	1	10	76
MUT:GAA:Arg600Leu	PROT:P10253	GAA	R	600	L	R600L	Pathogenic/Likely pathogenic	1	1	10	76
MUT:GAA:Arg600Pro	PROT:P10253	GAA	R	600	P	R600P	Likely pathogenic	1	1	10	76
MUT:GAA:Arg660Cys	PROT:P10253	GAA	R	660	C	R660C	Pathogenic	1	2	10	16
MUT:GAA:Arg660Gly	PROT:P10253	GAA	R	660	G	R660G	Likely pathogenic	1	1	10	16
MUT:GAA:Arg660His	PROT:P10253	GAA	R	660	H	R660H	Pathogenic	1	2	10	16
MUT:GAA:Arg672Gln	PROT:P10253	GAA	R	672	Q	R672Q	Likely pathogenic	1	1	10	4
MUT:GAA:Arg672Gly	PROT:P10253	GAA	R	672	G	R672G	Likely pathogenic	1	1	10	4
MUT:GAA:Arg672Leu	PROT:P10253	GAA	R	672	L	R672L	Likely pathogenic	1	1	10	4
MUT:GAA:Arg672Trp	PROT:P10253	GAA	R	672	W	R672W	Pathogenic	1	1	10	4
MUT:GAA:Arg702Cys	PROT:P10253	GAA	R	702	C	R702C	Pathogenic	1	1	10	23
MUT:GAA:Arg702His	PROT:P10253	GAA	R	702	H	R702H	Pathogenic	1	2	10	23
MUT:GAA:Arg702Leu	PROT:P10253	GAA	R	702	L	R702L	Pathogenic	1	1	10	23
MUT:GAA:Arg725Leu	PROT:P10253	GAA	R	725	L	R725L	Likely pathogenic	1	1	10	46
MUT:GAA:Arg725Pro	PROT:P10253	GAA	R	725	P	R725P	Likely pathogenic	1	1	10	46
MUT:GAA:Arg725Trp	PROT:P10253	GAA	R	725	W	R725W	Pathogenic	1	2	10	46
MUT:GAA:Arg819Pro	PROT:P10253	GAA	R	819	P	R819P	Likely pathogenic	1	1	10	3
MUT:GAA:Arg819Trp	PROT:P10253	GAA	R	819	W	R819W	Likely pathogenic	1	1	10	3
MUT:GAA:Arg881Gly	PROT:P10253	GAA	R	881	G	R881G	Likely benign	0	1	10	3
MUT:GAA:Arg89Leu	PROT:P10253	GAA	R	89	L	R89L	Likely pathogenic	1	1	10	73
MUT:GAA:Arg89Ser	PROT:P10253	GAA	R	89	S	R89S	Likely pathogenic	1	1	10	73
MUT:GAA:Asn520Ile	PROT:P10253	GAA	N	520	I	N520I	Pathogenic	1	1	10	82
MUT:GAA:Asn520Lys	PROT:P10253	GAA	N	520	K	N520K	Likely pathogenic	1	1	10	82
MUT:GAA:Asn570Lys	PROT:P10253	GAA	N	570	K	N570K	Likely pathogenic	1	1	10	106
MUT:GAA:Asn570Ser	PROT:P10253	GAA	N	570	S	N570S	Likely pathogenic	1	1	10	106
MUT:GAA:Asn635Asp	PROT:P10253	GAA	N	635	D	N635D	Likely pathogenic	1	1	10	41
MUT:GAA:Asn635Lys	PROT:P10253	GAA	N	635	K	N635K	Likely pathogenic	1	1	10	41
MUT:GAA:Asp243Glu	PROT:P10253	GAA	D	243	E	D243E	Likely pathogenic	1	1	10	8
MUT:GAA:Asp282His	PROT:P10253	GAA	D	282	H	D282H	Pathogenic/Likely pathogenic	1	1	10	47
MUT:GAA:Asp404Asn	PROT:P10253	GAA	D	404	N	D404N	Pathogenic	1	1	10	3
MUT:GAA:Asp404Gly	PROT:P10253	GAA	D	404	G	D404G	Likely pathogenic	1	1	10	3
MUT:GAA:Asp406Asn	PROT:P10253	GAA	D	406	N	D406N	Likely pathogenic	1	1	10	1
MUT:GAA:Asp419Val	PROT:P10253	GAA	D	419	V	D419V	Likely pathogenic	1	1	10	4
MUT:GAA:Asp459Val	PROT:P10253	GAA	D	459	V	D459V	Likely pathogenic	1	1	10	21
MUT:GAA:Asp489Asn	PROT:P10253	GAA	D	489	N	D489N	Pathogenic	1	1	10	51
MUT:GAA:Asp489Gly	PROT:P10253	GAA	D	489	G	D489G	Likely pathogenic	1	1	10	51
MUT:GAA:Asp513Ala	PROT:P10253	GAA	D	513	A	D513A	Likely pathogenic	1	1	10	75
MUT:GAA:Asp513Asn	PROT:P10253	GAA	D	513	N	D513N	Likely pathogenic	1	1	10	75
MUT:GAA:Asp513Gly	PROT:P10253	GAA	D	513	G	D513G	Likely pathogenic	1	1	10	75
MUT:GAA:Asp616Asn	PROT:P10253	GAA	D	616	N	D616N	Pathogenic/Likely pathogenic	1	1	10	60
MUT:GAA:Asp616His	PROT:P10253	GAA	D	616	H	D616H	Likely pathogenic	1	1	10	60
MUT:GAA:Asp616Tyr	PROT:P10253	GAA	D	616	Y	D616Y	Likely pathogenic	1	1	10	60
MUT:GAA:Asp645Asn	PROT:P10253	GAA	D	645	N	D645N	Pathogenic	1	1	10	31
MUT:GAA:Asp645Glu	PROT:P10253	GAA	D	645	E	D645E	Pathogenic	1	2	10	31
MUT:GAA:Asp645Gly	PROT:P10253	GAA	D	645	G	D645G	Likely pathogenic	1	1	10	31
MUT:GAA:Asp645His	PROT:P10253	GAA	D	645	H	D645H	Pathogenic	1	1	10	31
MUT:GAA:Asp645Tyr	PROT:P10253	GAA	D	645	Y	D645Y	Pathogenic	1	2	10	31
MUT:GAA:Asp812Asn	PROT:P10253	GAA	D	812	N	D812N	Pathogenic	1	1	10	10
MUT:GAA:Cys103Arg	PROT:P10253	GAA	C	103	R	C103R	Likely pathogenic	1	1	10	59
MUT:GAA:Cys103Trp	PROT:P10253	GAA	C	103	W	C103W	Pathogenic	1	1	10	59
MUT:GAA:Cys103Tyr	PROT:P10253	GAA	C	103	Y	C103Y	Likely pathogenic	1	1	10	59
MUT:GAA:Cys108Ser	PROT:P10253	GAA	C	108	S	C108S	Pathogenic	1	1	10	54
MUT:GAA:Cys108Tyr	PROT:P10253	GAA	C	108	Y	C108Y	Likely pathogenic	1	1	10	54
MUT:GAA:Cys533Tyr	PROT:P10253	GAA	C	533	Y	C533Y	Likely pathogenic	1	1	10	95
MUT:GAA:Cys558Ser	PROT:P10253	GAA	C	558	S	C558S	Likely pathogenic	1	1	10	118
MUT:GAA:Cys647Trp	PROT:P10253	GAA	C	647	W	C647W	Pathogenic	1	1	10	29
MUT:GAA:Gln429Arg	PROT:P10253	GAA	Q	429	R	Q429R	Benign	0	9	10	9
MUT:GAA:Gln429Glu	PROT:P10253	GAA	Q	429	E	Q429E	Benign/Likely benign	0	3	10	9
MUT:GAA:Gln743Arg	PROT:P10253	GAA	Q	743	R	Q743R	Pathogenic/Likely pathogenic	1	1	10	64
MUT:GAA:Gln743His	PROT:P10253	GAA	Q	743	H	Q743H	Likely pathogenic	1	1	10	64
MUT:GAA:Glu262Lys	PROT:P10253	GAA	E	262	K	E262K	Pathogenic	1	1	10	27
MUT:GAA:Glu521Asp	PROT:P10253	GAA	E	521	D	E521D	Likely pathogenic	1	1	10	83
MUT:GAA:Glu521Gln	PROT:P10253	GAA	E	521	Q	E521Q	Pathogenic	1	1	10	83
MUT:GAA:Glu521Lys	PROT:P10253	GAA	E	521	K	E521K	Pathogenic	1	1	10	83
MUT:GAA:Glu521Val	PROT:P10253	GAA	E	521	V	E521V	Pathogenic	1	1	10	83
MUT:GAA:Glu539Lys	PROT:P10253	GAA	E	539	K	E539K	Likely pathogenic	1	1	10	101
MUT:GAA:Glu579Lys	PROT:P10253	GAA	E	579	K	E579K	Pathogenic	1	1	10	97
MUT:GAA:Gly123Glu	PROT:P10253	GAA	G	123	E	G123E	Benign/Likely benign	0	3	10	39
MUT:GAA:Gly219Arg	PROT:P10253	GAA	G	219	R	G219R	Pathogenic	1	3	10	16
MUT:GAA:Gly219Glu	PROT:P10253	GAA	G	219	E	G219E	Likely pathogenic	1	1	10	16
MUT:GAA:Gly219Val	PROT:P10253	GAA	G	219	V	G219V	Likely pathogenic	1	1	10	16
MUT:GAA:Gly293Arg	PROT:P10253	GAA	G	293	R	G293R	Pathogenic	1	2	10	47
MUT:GAA:Gly309Arg	PROT:P10253	GAA	G	309	R	G309R	Pathogenic	1	1	10	31
MUT:GAA:Gly309Trp	PROT:P10253	GAA	G	309	W	G309W	Likely pathogenic	1	1	10	31
MUT:GAA:Gly334Asp	PROT:P10253	GAA	G	334	D	G334D	Pathogenic/Likely pathogenic	1	1	10	6
MUT:GAA:Gly334Cys	PROT:P10253	GAA	G	334	C	G334C	Likely pathogenic	1	1	10	6
MUT:GAA:Gly334Ser	PROT:P10253	GAA	G	334	S	G334S	Likely pathogenic	1	1	10	6
MUT:GAA:Gly335Arg	PROT:P10253	GAA	G	335	R	G335R	Likely pathogenic	1	1	10	5
MUT:GAA:Gly335Glu	PROT:P10253	GAA	G	335	E	G335E	Likely pathogenic	1	1	10	5
MUT:GAA:Gly335Trp	PROT:P10253	GAA	G	335	W	G335W	Likely pathogenic	1	1	10	5
MUT:GAA:Gly359Arg	PROT:P10253	GAA	G	359	R	G359R	Pathogenic	1	1	10	19
MUT:GAA:Gly368Asp	PROT:P10253	GAA	G	368	D	G368D	Likely pathogenic	1	1	10	28
MUT:GAA:Gly377Arg	PROT:P10253	GAA	G	377	R	G377R	Pathogenic/Likely pathogenic	1	1	10	30
MUT:GAA:Gly478Arg	PROT:P10253	GAA	G	478	R	G478R	Pathogenic	1	1	10	40
MUT:GAA:Gly483Arg	PROT:P10253	GAA	G	483	R	G483R	Pathogenic	1	1	10	45
MUT:GAA:Gly528Ala	PROT:P10253	GAA	G	528	A	G528A	Likely pathogenic	1	1	10	90
MUT:GAA:Gly528Val	PROT:P10253	GAA	G	528	V	G528V	Likely pathogenic	1	1	10	90
MUT:GAA:Gly549Arg	PROT:P10253	GAA	G	549	R	G549R	Pathogenic	1	1	10	111
MUT:GAA:Gly549Glu	PROT:P10253	GAA	G	549	E	G549E	Likely pathogenic	1	1	10	111
MUT:GAA:Gly607Asp	PROT:P10253	GAA	G	607	D	G607D	Likely pathogenic	1	1	10	69
MUT:GAA:Gly607Cys	PROT:P10253	GAA	G	607	C	G607C	Likely pathogenic	1	1	10	69
MUT:GAA:Gly607Val	PROT:P10253	GAA	G	607	V	G607V	Likely pathogenic	1	1	10	69
MUT:GAA:Gly611Asp	PROT:P10253	GAA	G	611	D	G611D	Likely pathogenic	1	1	10	65
MUT:GAA:Gly611Ser	PROT:P10253	GAA	G	611	S	G611S	Likely pathogenic	1	1	10	65
MUT:GAA:Gly615Arg	PROT:P10253	GAA	G	615	R	G615R	Pathogenic	1	1	10	61
MUT:GAA:Gly615Glu	PROT:P10253	GAA	G	615	E	G615E	Pathogenic/Likely pathogenic	1	1	10	61
MUT:GAA:Gly615Val	PROT:P10253	GAA	G	615	V	G615V	Pathogenic	1	1	10	61
MUT:GAA:Gly638Glu	PROT:P10253	GAA	G	638	E	G638E	Likely pathogenic	1	1	10	38
MUT:GAA:Gly638Trp	PROT:P10253	GAA	G	638	W	G638W	Pathogenic	1	1	10	38
MUT:GAA:Gly638Val	PROT:P10253	GAA	G	638	V	G638V	Pathogenic	1	1	10	38
MUT:GAA:Gly643Ala	PROT:P10253	GAA	G	643	A	G643A	Likely pathogenic	1	1	10	33
MUT:GAA:Gly643Arg	PROT:P10253	GAA	G	643	R	G643R	Pathogenic	1	2	10	33
MUT:GAA:Gly643Trp	PROT:P10253	GAA	G	643	W	G643W	Likely pathogenic	1	1	10	33
MUT:GAA:Gly648Asp	PROT:P10253	GAA	G	648	D	G648D	Likely pathogenic	1	1	10	28
MUT:GAA:Gly648Cys	PROT:P10253	GAA	G	648	C	G648C	Likely pathogenic	1	1	10	28
MUT:GAA:Gly648Ser	PROT:P10253	GAA	G	648	S	G648S	Pathogenic	1	1	10	28
MUT:GAA:Gly648Val	PROT:P10253	GAA	G	648	V	G648V	Likely pathogenic	1	1	10	28
MUT:GAA:His199Arg	PROT:P10253	GAA	H	199	R	H199R	Benign	0	1	10	36
MUT:GAA:His295Asn	PROT:P10253	GAA	H	295	N	H295N	Likely pathogenic	1	1	10	45
MUT:GAA:His308Asp	PROT:P10253	GAA	H	308	D	H308D	Likely pathogenic	1	1	10	32
MUT:GAA:His308Pro	PROT:P10253	GAA	H	308	P	H308P	Pathogenic/Likely pathogenic	1	1	10	32
MUT:GAA:His372Leu	PROT:P10253	GAA	H	372	L	H372L	Pathogenic	1	1	10	32
MUT:GAA:His568Arg	PROT:P10253	GAA	H	568	R	H568R	Pathogenic	1	1	10	108
MUT:GAA:His568Leu	PROT:P10253	GAA	H	568	L	H568L	Pathogenic/Likely pathogenic	1	1	10	108
MUT:GAA:His572Gln	PROT:P10253	GAA	H	572	Q	H572Q	Likely pathogenic	1	1	10	104
MUT:GAA:His572Tyr	PROT:P10253	GAA	H	572	Y	H572Y	Likely pathogenic	1	1	10	104
MUT:GAA:His612Gln	PROT:P10253	GAA	H	612	Q	H612Q	Likely pathogenic	1	1	10	64
MUT:GAA:His674Gln	PROT:P10253	GAA	H	674	Q	H674Q	Likely pathogenic	1	1	10	2
MUT:GAA:Ile468Phe	PROT:P10253	GAA	I	468	F	I468F	Likely pathogenic	1	1	10	30
MUT:GAA:Ile557Phe	PROT:P10253	GAA	I	557	F	I557F	Pathogenic	1	1	10	119
MUT:GAA:Ile557Ser	PROT:P10253	GAA	I	557	S	I557S	Likely pathogenic	1	1	10	119
MUT:GAA:Leu226Val	PROT:P10253	GAA	L	226	V	L226V	Likely benign	0	6	10	9
MUT:GAA:Leu248Pro	PROT:P10253	GAA	L	248	P	L248P	Likely pathogenic	1	1	10	13
MUT:GAA:Leu291Phe	PROT:P10253	GAA	L	291	F	L291F	Pathogenic	1	1	10	49
MUT:GAA:Leu291Pro	PROT:P10253	GAA	L	291	P	L291P	Pathogenic	1	1	10	49
MUT:GAA:Leu299Arg	PROT:P10253	GAA	L	299	R	L299R	Likely pathogenic	1	1	10	41
MUT:GAA:Leu299Pro	PROT:P10253	GAA	L	299	P	L299P	Pathogenic	1	1	10	41
MUT:GAA:Leu355Pro	PROT:P10253	GAA	L	355	P	L355P	Pathogenic	1	1	10	15
MUT:GAA:Leu369Gln	PROT:P10253	GAA	L	369	Q	L369Q	Likely pathogenic	1	1	10	29
MUT:GAA:Leu369Pro	PROT:P10253	GAA	L	369	P	L369P	Likely pathogenic	1	1	10	29
MUT:GAA:Leu398Pro	PROT:P10253	GAA	L	398	P	L398P	Pathogenic/Likely pathogenic	1	1	10	9
MUT:GAA:Leu405Pro	PROT:P10253	GAA	L	405	P	L405P	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GAA:Leu462Pro	PROT:P10253	GAA	L	462	P	L462P	Likely pathogenic	1	1	10	24
MUT:GAA:Leu552Phe	PROT:P10253	GAA	L	552	F	L552F	Likely pathogenic	1	1	10	114
MUT:GAA:Leu552Pro	PROT:P10253	GAA	L	552	P	L552P	Pathogenic	1	2	10	114
MUT:GAA:Leu574Pro	PROT:P10253	GAA	L	574	P	L574P	Pathogenic/Likely pathogenic	1	1	10	102
MUT:GAA:Leu632Arg	PROT:P10253	GAA	L	632	R	L632R	Pathogenic	1	1	10	44
MUT:GAA:Leu699Pro	PROT:P10253	GAA	L	699	P	L699P	Pathogenic	1	1	10	20
MUT:GAA:Leu901Gln	PROT:P10253	GAA	L	901	Q	L901Q	Pathogenic	1	1	10	17
MUT:GAA:Lys479Asn	PROT:P10253	GAA	K	479	N	K479N	Likely pathogenic	1	1	10	41
MUT:GAA:Met122Val	PROT:P10253	GAA	M	122	V	M122V	Likely pathogenic	1	1	10	40
MUT:GAA:Met1Ile	PROT:P10253	GAA	M	1	I	M1I	Pathogenic/Likely pathogenic	1	1	10	161
MUT:GAA:Met1Leu	PROT:P10253	GAA	M	1	L	M1L	Likely pathogenic	1	1	10	161
MUT:GAA:Met1Thr	PROT:P10253	GAA	M	1	T	M1T	Pathogenic	1	1	10	161
MUT:GAA:Met1Val	PROT:P10253	GAA	M	1	V	M1V	Pathogenic	1	1	10	161
MUT:GAA:Met318Lys	PROT:P10253	GAA	M	318	K	M318K	Likely pathogenic	1	1	10	22
MUT:GAA:Met318Thr	PROT:P10253	GAA	M	318	T	M318T	Pathogenic	1	1	10	22
MUT:GAA:Met408Leu	PROT:P10253	GAA	M	408	L	M408L	Likely pathogenic	1	1	10	1
MUT:GAA:Met408Val	PROT:P10253	GAA	M	408	V	M408V	Likely pathogenic	1	1	10	1
MUT:GAA:Met427Thr	PROT:P10253	GAA	M	427	T	M427T	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GAA:Met439Lys	PROT:P10253	GAA	M	439	K	M439K	Pathogenic	1	2	10	1
MUT:GAA:Met519Ile	PROT:P10253	GAA	M	519	I	M519I	Pathogenic	1	1	10	81
MUT:GAA:Met519Thr	PROT:P10253	GAA	M	519	T	M519T	Pathogenic	1	1	10	81
MUT:GAA:Phe467Ser	PROT:P10253	GAA	F	467	S	F467S	Likely pathogenic	1	1	10	29
MUT:GAA:Pro266Ser	PROT:P10253	GAA	P	266	S	P266S	Likely pathogenic	1	1	10	31
MUT:GAA:Pro285Arg	PROT:P10253	GAA	P	285	R	P285R	Likely pathogenic	1	1	10	50
MUT:GAA:Pro285Ser	PROT:P10253	GAA	P	285	S	P285S	Likely pathogenic	1	1	10	50
MUT:GAA:Pro361Arg	PROT:P10253	GAA	P	361	R	P361R	Likely pathogenic	1	2	10	21
MUT:GAA:Pro361Leu	PROT:P10253	GAA	P	361	L	P361L	Pathogenic	1	1	10	21
MUT:GAA:Pro451Arg	PROT:P10253	GAA	P	451	R	P451R	Likely benign	0	2	10	13
MUT:GAA:Pro457Arg	PROT:P10253	GAA	P	457	R	P457R	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GAA:Pro457His	PROT:P10253	GAA	P	457	H	P457H	Likely pathogenic	1	1	10	19
MUT:GAA:Pro457Leu	PROT:P10253	GAA	P	457	L	P457L	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GAA:Pro457Ser	PROT:P10253	GAA	P	457	S	P457S	Likely pathogenic	1	1	10	19
MUT:GAA:Pro482Arg	PROT:P10253	GAA	P	482	R	P482R	Likely pathogenic	1	1	10	44
MUT:GAA:Pro482Leu	PROT:P10253	GAA	P	482	L	P482L	Likely pathogenic	1	1	10	44
MUT:GAA:Pro493Leu	PROT:P10253	GAA	P	493	L	P493L	Likely pathogenic	1	1	10	55
MUT:GAA:Pro493Ser	PROT:P10253	GAA	P	493	S	P493S	Likely pathogenic	1	1	10	55
MUT:GAA:Pro522Ala	PROT:P10253	GAA	P	522	A	P522A	Pathogenic	1	1	10	84
MUT:GAA:Pro522Leu	PROT:P10253	GAA	P	522	L	P522L	Likely pathogenic	1	1	10	84
MUT:GAA:Pro522Ser	PROT:P10253	GAA	P	522	S	P522S	Likely pathogenic	1	1	10	84
MUT:GAA:Pro522Thr	PROT:P10253	GAA	P	522	T	P522T	Pathogenic/Likely pathogenic	1	1	10	84
MUT:GAA:Pro545Leu	PROT:P10253	GAA	P	545	L	P545L	Pathogenic	1	2	10	107
MUT:GAA:Pro545Ser	PROT:P10253	GAA	P	545	S	P545S	Likely pathogenic	1	1	10	107
MUT:GAA:Pro595Leu	PROT:P10253	GAA	P	595	L	P595L	Likely pathogenic	1	1	10	81
MUT:GAA:Pro669Leu	PROT:P10253	GAA	P	669	L	P669L	Likely pathogenic	1	1	10	7
MUT:GAA:Pro684Arg	PROT:P10253	GAA	P	684	R	P684R	Likely pathogenic	1	1	10	5
MUT:GAA:Pro768Arg	PROT:P10253	GAA	P	768	R	P768R	Likely pathogenic	1	1	10	54
MUT:GAA:Pro768Leu	PROT:P10253	GAA	P	768	L	P768L	Likely pathogenic	1	1	10	54
MUT:GAA:Ser306Leu	PROT:P10253	GAA	S	306	L	S306L	Benign/Likely benign	0	1	10	34
MUT:GAA:Ser448Thr	PROT:P10253	GAA	S	448	T	S448T	Benign/Likely benign	0	3	10	10
MUT:GAA:Ser529Ala	PROT:P10253	GAA	S	529	A	S529A	Likely pathogenic	1	1	10	91
MUT:GAA:Ser529Pro	PROT:P10253	GAA	S	529	P	S529P	Pathogenic	1	1	10	91
MUT:GAA:Ser529Val	PROT:P10253	GAA	S	529	V	S529V	Likely pathogenic	1	2	10	91
MUT:GAA:Ser566Phe	PROT:P10253	GAA	S	566	F	S566F	Likely pathogenic	1	1	10	110
MUT:GAA:Ser583Phe	PROT:P10253	GAA	S	583	F	S583F	Pathogenic/Likely pathogenic	1	1	10	93
MUT:GAA:Ser599Tyr	PROT:P10253	GAA	S	599	Y	S599Y	Likely pathogenic	1	1	10	77
MUT:GAA:Ser601Leu	PROT:P10253	GAA	S	601	L	S601L	Pathogenic	1	1	10	75
MUT:GAA:Ser601Trp	PROT:P10253	GAA	S	601	W	S601W	Likely pathogenic	1	1	10	75
MUT:GAA:Ser619Arg	PROT:P10253	GAA	S	619	R	S619R	Pathogenic	1	1	10	57
MUT:GAA:Ser619Asn	PROT:P10253	GAA	S	619	N	S619N	Pathogenic	1	2	10	57
MUT:GAA:Ser619Gly	PROT:P10253	GAA	S	619	G	S619G	Likely pathogenic	1	1	10	57
MUT:GAA:Ser627Phe	PROT:P10253	GAA	S	627	F	S627F	Pathogenic	1	1	10	49
MUT:GAA:Ser800Ile	PROT:P10253	GAA	S	800	I	S800I	Pathogenic	1	1	10	22
MUT:GAA:Thr234Lys	PROT:P10253	GAA	T	234	K	T234K	Likely pathogenic	1	1	10	1
MUT:GAA:Thr614Lys	PROT:P10253	GAA	T	614	K	T614K	Pathogenic	1	1	10	62
MUT:GAA:Thr614Met	PROT:P10253	GAA	T	614	M	T614M	Likely pathogenic	1	2	10	62
MUT:GAA:Thr653Asn	PROT:P10253	GAA	T	653	N	T653N	Likely pathogenic	1	1	10	23
MUT:GAA:Thr653Ile	PROT:P10253	GAA	T	653	I	T653I	Likely pathogenic	1	1	10	23
MUT:GAA:Thr711Ala	PROT:P10253	GAA	T	711	A	T711A	Likely pathogenic	1	1	10	32
MUT:GAA:Thr711Pro	PROT:P10253	GAA	T	711	P	T711P	Likely pathogenic	1	1	10	32
MUT:GAA:Thr711Ser	PROT:P10253	GAA	T	711	S	T711S	Likely pathogenic	1	1	10	32
MUT:GAA:Thr737Asn	PROT:P10253	GAA	T	737	N	T737N	Likely pathogenic	1	1	10	58
MUT:GAA:Thr927Ile	PROT:P10253	GAA	T	927	I	T927I	Benign	0	1	10	43
MUT:GAA:Trp330Cys	PROT:P10253	GAA	W	330	C	W330C	Likely pathogenic	1	1	10	10
MUT:GAA:Trp367Arg	PROT:P10253	GAA	W	367	R	W367R	Likely pathogenic	1	1	10	27
MUT:GAA:Trp481Arg	PROT:P10253	GAA	W	481	R	W481R	Pathogenic	1	1	10	43
MUT:GAA:Trp746Arg	PROT:P10253	GAA	W	746	R	W746R	Pathogenic/Likely pathogenic	1	1	10	67
MUT:GAA:Trp746Cys	PROT:P10253	GAA	W	746	C	W746C	Pathogenic	1	3	10	67
MUT:GAA:Trp746Gly	PROT:P10253	GAA	W	746	G	W746G	Pathogenic/Likely pathogenic	1	1	10	67
MUT:GAA:Trp746Ser	PROT:P10253	GAA	W	746	S	W746S	Likely pathogenic	1	1	10	67
MUT:GAA:Trp772Arg	PROT:P10253	GAA	W	772	R	W772R	Likely pathogenic	1	1	10	50
MUT:GAA:Tyr292Cys	PROT:P10253	GAA	Y	292	C	Y292C	Pathogenic	1	1	10	48
MUT:GAA:Tyr407Cys	PROT:P10253	GAA	Y	407	C	Y407C	Likely pathogenic	1	1	10	0
MUT:GAA:Tyr455Cys	PROT:P10253	GAA	Y	455	C	Y455C	Pathogenic	1	1	10	17
MUT:GAA:Tyr668Cys	PROT:P10253	GAA	Y	668	C	Y668C	Likely pathogenic	1	1	10	8
MUT:GAA:Tyr766Cys	PROT:P10253	GAA	Y	766	C	Y766C	Pathogenic	1	1	10	56
MUT:GAA:Tyr766His	PROT:P10253	GAA	Y	766	H	Y766H	Likely pathogenic	1	1	10	56
MUT:GAA:Tyr766Ser	PROT:P10253	GAA	Y	766	S	Y766S	Pathogenic	1	1	10	56
MUT:GAA:Tyr928His	PROT:P10253	GAA	Y	928	H	Y928H	Likely pathogenic	1	1	10	44
MUT:GAA:Val220Leu	PROT:P10253	GAA	V	220	L	V220L	Likely benign	0	1	10	15
MUT:GAA:Val222Met	PROT:P10253	GAA	V	222	M	V222M	Benign/Likely benign	0	2	10	13
MUT:GAA:Val466Gly	PROT:P10253	GAA	V	466	G	V466G	Likely pathogenic	1	1	10	28
MUT:GAA:Val466Phe	PROT:P10253	GAA	V	466	F	V466F	Likely pathogenic	1	1	10	28
MUT:GAA:Val548Phe	PROT:P10253	GAA	V	548	F	V548F	Likely benign	0	1	10	110
MUT:GAA:Val642Phe	PROT:P10253	GAA	V	642	F	V642F	Likely pathogenic	1	1	10	34
MUT:GAA:Val718Ile	PROT:P10253	GAA	V	718	I	V718I	Likely benign	0	2	10	39
MUT:GAA:Val723Met	PROT:P10253	GAA	V	723	M	V723M	Pathogenic/Likely pathogenic	1	1	10	44
MUT:GAA:Val780Ile	PROT:P10253	GAA	V	780	I	V780I	Benign	0	1	10	42
MUT:GAA:Val816Ile	PROT:P10253	GAA	V	816	I	V816I	Benign	0	1	10	6
MUT:GAA:Val890Leu	PROT:P10253	GAA	V	890	L	V890L	Benign	0	2	10	6
MUT:GABRA3:Ala420Thr	PROT:P34903	GABRA3	A	420	T	A420T	Benign/Likely benign	0	1	5	3
MUT:GABRA3:Gln242Leu	PROT:P34903	GABRA3	Q	242	L	Q242L	Pathogenic	1	1	5	76
MUT:GABRA3:Ile20Phe	PROT:P34903	GABRA3	I	20	F	I20F	Likely benign	0	1	5	146
MUT:GABRA3:Thr12Ser	PROT:P34903	GABRA3	T	12	S	T12S	Likely benign	0	1	5	154
MUT:GABRA3:Thr166Met	PROT:P34903	GABRA3	T	166	M	T166M	Pathogenic	1	1	5	0
MUT:GABRA3:Tyr277Cys	PROT:P34903	GABRA3	Y	277	C	Y277C	Likely pathogenic	1	1	5	111
MUT:GABRA3:Tyr474Cys	PROT:P34903	GABRA3	Y	474	C	Y474C	Pathogenic	1	1	5	32
MUT:GABRA3:Val344Ile	PROT:P34903	GABRA3	V	344	I	V344I	Likely benign	0	1	5	79
MUT:GABRA4:Thr355Ala	PROT:P48169	GABRA4	T	355	A	T355A	Likely benign	0	1	7	50
MUT:GABRA5:Gln74Lys	PROT:P31644	GABRA5	Q	74	K	Q74K	Likely benign	0	1	3	281
MUT:GABRA5:Gly219Ser	PROT:P31644	GABRA5	G	219	S	G219S	Likely benign	0	1	3	136
MUT:GABRA5:Pro394Leu	PROT:P31644	GABRA5	P	394	L	P394L	Likely benign	0	1	3	12
MUT:GABRA5:Ser402Ala	PROT:P31644	GABRA5	S	402	A	S402A	Benign/Likely benign	0	1	3	4
MUT:GABRA5:Ser413Phe	PROT:P31644	GABRA5	S	413	F	S413F	Pathogenic	1	1	3	2
MUT:GABRA5:Thr301Arg	PROT:P31644	GABRA5	T	301	R	T301R	Pathogenic/Likely pathogenic	1	1	3	54
MUT:GABRA5:Tyr244His	PROT:P31644	GABRA5	Y	244	H	Y244H	Likely benign	0	1	3	111
MUT:GABRA5:Val294Leu	PROT:P31644	GABRA5	V	294	L	V294L	Pathogenic	1	1	3	61
MUT:GABRA5:Val294Phe	PROT:P31644	GABRA5	V	294	F	V294F	Pathogenic/Likely pathogenic	1	1	3	61
MUT:GAD1:Arg457His	PROT:Q99259	GAD1	R	457	H	R457H	Likely pathogenic	1	1	1	366
MUT:GAD1:Arg532Gln	PROT:Q99259	GAD1	R	532	Q	R532Q	Benign	0	1	1	441
MUT:GAD1:Asn564Ser	PROT:Q99259	GAD1	N	564	S	N564S	Pathogenic	1	1	1	473
MUT:GAD1:Pro558Ser	PROT:Q99259	GAD1	P	558	S	P558S	Likely benign	0	1	1	467
MUT:GAD1:Thr27Lys	PROT:Q99259	GAD1	T	27	K	T27K	Benign/Likely benign	0	2	1	64
MUT:GAD1:Trp468Gly	PROT:Q99259	GAD1	W	468	G	W468G	Likely pathogenic	1	1	1	377
MUT:GAD1:Val418Ile	PROT:Q99259	GAD1	V	418	I	V418I	Likely benign	0	1	1	327
MUT:GALM:Ala2Val	PROT:Q96C23	GALM	A	2	V	A2V	Likely benign	0	1	4	12
MUT:GALM:Arg319Cys	PROT:Q96C23	GALM	R	319	C	R319C	Likely benign	0	1	4	200
MUT:GALM:Asn190Tyr	PROT:Q96C23	GALM	N	190	Y	N190Y	Benign	0	2	4	71
MUT:GALM:Glu102Gly	PROT:Q96C23	GALM	E	102	G	E102G	Likely benign	0	1	4	9
MUT:GALM:Gly328Asp	PROT:Q96C23	GALM	G	328	D	G328D	Benign	0	1	4	209
MUT:GALNT12:Arg120Pro	PROT:Q8IXK2	GALNT12	R	120	P	R120P	Benign/Likely benign	0	2	6	6
MUT:GALNT12:Asp261Asn	PROT:Q8IXK2	GALNT12	D	261	N	D261N	Benign/Likely benign	0	2	6	46
MUT:GALNT12:Glu119Val	PROT:Q8IXK2	GALNT12	E	119	V	E119V	Benign	0	3	6	7
MUT:GALNT12:Thr225Ser	PROT:Q8IXK2	GALNT12	T	225	S	T225S	Benign/Likely benign	0	1	6	82
MUT:GALNT14:Val326Ile	PROT:Q96FL9	GALNT14	V	326	I	V326I	Likely benign	0	1	2	40
MUT:GALNT2:Ala32Ser	PROT:Q10471	GALNT2	A	32	S	A32S	Likely benign	0	1	27	10
MUT:GALNT2:Arg208Gln	PROT:Q10471	GALNT2	R	208	Q	R208Q	Likely pathogenic	1	1	27	19
MUT:GALNT2:Arg210Pro	PROT:Q10471	GALNT2	R	210	P	R210P	Likely pathogenic	1	1	27	21
MUT:GALNT2:Phe104Ser	PROT:Q10471	GALNT2	F	104	S	F104S	Likely pathogenic	1	1	27	1
MUT:GALNT2:Val554Met	PROT:Q10471	GALNT2	V	554	M	V554M	Benign	0	1	27	8
MUT:GAN:Ala463Thr	PROT:Q9H2C0	GAN	A	463	T	A463T	Pathogenic	1	1	15	8
MUT:GAN:Arg545His	PROT:Q9H2C0	GAN	R	545	H	R545H	Pathogenic/Likely pathogenic	1	1	15	34
MUT:GAN:Asn352Ser	PROT:Q9H2C0	GAN	N	352	S	N352S	Likely pathogenic	1	2	15	6
MUT:GAN:Glu486Lys	PROT:Q9H2C0	GAN	E	486	K	E486K	Pathogenic/Likely pathogenic	1	1	15	3
MUT:GAN:Ile47Met	PROT:Q9H2C0	GAN	I	47	M	I47M	Likely pathogenic	1	1	15	2
MUT:GAN:Leu125Ser	PROT:Q9H2C0	GAN	L	125	S	L125S	Pathogenic	1	1	15	46
MUT:GAN:Lys72Met	PROT:Q9H2C0	GAN	K	72	M	K72M	Pathogenic	1	1	15	7
MUT:GAN:Pro297Leu	PROT:Q9H2C0	GAN	P	297	L	P297L	Likely pathogenic	1	1	15	49
MUT:GAN:Pro562Ala	PROT:Q9H2C0	GAN	P	562	A	P562A	Benign/Likely benign	0	2	15	17
MUT:GAN:Tyr347Cys	PROT:Q9H2C0	GAN	Y	347	C	Y347C	Likely pathogenic	1	1	15	1
MUT:GANAB:Ala16Val	PROT:Q14697	GANAB	A	16	V	A16V	Benign	0	1	27	32
MUT:GANAB:Ala172Thr	PROT:Q14697	GANAB	A	172	T	A172T	Likely benign	0	1	27	7
MUT:GANAB:Ala6Val	PROT:Q14697	GANAB	A	6	V	A6V	Likely benign	0	1	27	42
MUT:GANAB:Ala751Thr	PROT:Q14697	GANAB	A	751	T	A751T	Likely benign	0	1	27	57
MUT:GANAB:Arg13Gln	PROT:Q14697	GANAB	R	13	Q	R13Q	Likely pathogenic	1	1	27	35
MUT:GANAB:Arg590Pro	PROT:Q14697	GANAB	R	590	P	R590P	Pathogenic	1	1	27	18
MUT:GANAB:Arg596Cys	PROT:Q14697	GANAB	R	596	C	R596C	Likely pathogenic	1	2	27	12
MUT:GANAB:Arg817Trp	PROT:Q14697	GANAB	R	817	W	R817W	Likely pathogenic	1	2	27	3
MUT:GANAB:Arg864Gln	PROT:Q14697	GANAB	R	864	Q	R864Q	Likely benign	0	1	27	44
MUT:GANAB:Arg914Cys	PROT:Q14697	GANAB	R	914	C	R914C	Benign/Likely benign	0	1	27	16
MUT:GANAB:Asp647Gly	PROT:Q14697	GANAB	D	647	G	D647G	Likely pathogenic	1	1	27	39
MUT:GANAB:Gly612Arg	PROT:Q14697	GANAB	G	612	R	G612R	Likely pathogenic	1	1	27	4
MUT:GANAB:Leu577Phe	PROT:Q14697	GANAB	L	577	F	L577F	Likely benign	0	1	27	31
MUT:GANAB:Lys96Arg	PROT:Q14697	GANAB	K	96	R	K96R	Likely benign	0	1	27	36
MUT:GANAB:Pro879Leu	PROT:Q14697	GANAB	P	879	L	P879L	Benign	0	1	27	51
MUT:GANAB:Pro931Ala	PROT:Q14697	GANAB	P	931	A	P931A	Likely benign	0	1	27	1
MUT:GANAB:Ser36Gly	PROT:Q14697	GANAB	S	36	G	S36G	Likely benign	0	1	27	12
MUT:GANAB:Thr383Arg	PROT:Q14697	GANAB	T	383	R	T383R	Pathogenic	1	1	27	4
MUT:GANAB:Thr839Ile	PROT:Q14697	GANAB	T	839	I	T839I	Pathogenic	1	1	27	19
MUT:GANAB:Tyr477His	PROT:Q14697	GANAB	Y	477	H	Y477H	Likely pathogenic	1	1	27	12
MUT:GANAB:Val467Ile	PROT:Q14697	GANAB	V	467	I	V467I	Likely benign	0	2	27	5
MUT:GANAB:Val725Ile	PROT:Q14697	GANAB	V	725	I	V725I	Benign/Likely benign	0	3	27	83
MUT:GANAB:Val7Met	PROT:Q14697	GANAB	V	7	M	V7M	Likely benign	0	1	27	41
MUT:GARIN4:Gly492Asp	PROT:Q8IYT1	GARIN4	G	492	D	G492D	Likely benign	0	1	3	47
MUT:GARIN4:Ser489Pro	PROT:Q8IYT1	GARIN4	S	489	P	S489P	Likely benign	0	1	3	44
MUT:GARNL3:Gln290Arg	PROT:Q5VVW2	GARNL3	Q	290	R	Q290R	Likely pathogenic	1	1	9	105
MUT:GART:Leu636Arg	PROT:P22102	GART	L	636	R	L636R	Likely pathogenic	1	1	43	3
MUT:GAS2L2:Ala353Ser	PROT:Q8NHY3	GAS2L2	A	353	S	A353S	Likely benign	0	1	6	16
MUT:GAS2L2:Ala540Thr	PROT:Q8NHY3	GAS2L2	A	540	T	A540T	Benign	0	1	6	14
MUT:GAS2L2:Ala850Thr	PROT:Q8NHY3	GAS2L2	A	850	T	A850T	Benign	0	1	6	214
MUT:GAS2L2:Arg344His	PROT:Q8NHY3	GAS2L2	R	344	H	R344H	Likely benign	0	1	6	7
MUT:GAS2L2:Arg460Cys	PROT:Q8NHY3	GAS2L2	R	460	C	R460C	Benign	0	1	6	4
MUT:GAS2L2:Arg763Gln	PROT:Q8NHY3	GAS2L2	R	763	Q	R763Q	Likely benign	0	1	6	127
MUT:GAS2L2:Arg781Pro	PROT:Q8NHY3	GAS2L2	R	781	P	R781P	Benign	0	1	6	145
MUT:GAS2L2:Asn70Asp	PROT:Q8NHY3	GAS2L2	N	70	D	N70D	Pathogenic	1	1	6	246
MUT:GAS2L2:Glu466Lys	PROT:Q8NHY3	GAS2L2	E	466	K	E466K	Benign	0	1	6	10
MUT:GAS2L2:Gly433Arg	PROT:Q8NHY3	GAS2L2	G	433	R	G433R	Likely benign	0	1	6	23
MUT:GAS2L2:His550Arg	PROT:Q8NHY3	GAS2L2	H	550	R	H550R	Likely benign	0	1	6	24
MUT:GAS2L2:Pro864Leu	PROT:Q8NHY3	GAS2L2	P	864	L	P864L	Benign	0	1	6	228
MUT:GAS2L2:Val321Ala	PROT:Q8NHY3	GAS2L2	V	321	A	V321A	Likely benign	0	1	6	5
MUT:GATA1:Ala227Val	PROT:P15976	GATA1	A	227	V	A227V	Likely pathogenic	1	1	20	4
MUT:GATA1:Ala22Gly	PROT:P15976	GATA1	A	22	G	A22G	Benign/Likely benign	0	1	20	4
MUT:GATA1:Ala22Thr	PROT:P15976	GATA1	A	22	T	A22T	Benign	0	1	20	4
MUT:GATA1:Ala53Asp	PROT:P15976	GATA1	A	53	D	A53D	Benign	0	1	20	19
MUT:GATA1:Ala55Thr	PROT:P15976	GATA1	A	55	T	A55T	Benign	0	1	20	17
MUT:GATA1:Arg113Cys	PROT:P15976	GATA1	R	113	C	R113C	Likely benign	0	1	20	3
MUT:GATA1:Arg113Leu	PROT:P15976	GATA1	R	113	L	R113L	Likely benign	0	1	20	3
MUT:GATA1:Arg216Gln	PROT:P15976	GATA1	R	216	Q	R216Q	Pathogenic	1	3	20	7
MUT:GATA1:Arg216Trp	PROT:P15976	GATA1	R	216	W	R216W	Likely pathogenic	1	5	20	7
MUT:GATA1:Arg247His	PROT:P15976	GATA1	R	247	H	R247H	Likely benign	0	1	20	1
MUT:GATA1:Arg317Gln	PROT:P15976	GATA1	R	317	Q	R317Q	Likely benign	0	1	20	1
MUT:GATA1:Asn160Ser	PROT:P15976	GATA1	N	160	S	N160S	Benign	0	1	20	1
MUT:GATA1:Asp115Tyr	PROT:P15976	GATA1	D	115	Y	D115Y	Likely benign	0	1	20	1
MUT:GATA1:Asp218Gly	PROT:P15976	GATA1	D	218	G	D218G	Pathogenic/Likely pathogenic	1	3	20	5
MUT:GATA1:Asp218Tyr	PROT:P15976	GATA1	D	218	Y	D218Y	Pathogenic	1	2	20	5
MUT:GATA1:Gly208Ser	PROT:P15976	GATA1	G	208	S	G208S	Pathogenic	1	2	20	15
MUT:GATA1:Gly368Ala	PROT:P15976	GATA1	G	368	A	G368A	Benign	0	1	20	52
MUT:GATA1:Gly368Ser	PROT:P15976	GATA1	G	368	S	G368S	Likely benign	0	1	20	52
MUT:GATA1:Gly89Glu	PROT:P15976	GATA1	G	89	E	G89E	Likely benign	0	1	20	11
MUT:GATA1:Gly99Ser	PROT:P15976	GATA1	G	99	S	G99S	Benign	0	1	20	17
MUT:GATA1:His289Tyr	PROT:P15976	GATA1	H	289	Y	H289Y	Pathogenic	1	1	20	4
MUT:GATA1:His71Arg	PROT:P15976	GATA1	H	71	R	H71R	Benign	0	1	20	1
MUT:GATA1:His71Pro	PROT:P15976	GATA1	H	71	P	H71P	Benign/Likely benign	0	1	20	1
MUT:GATA1:Met1Ile	PROT:P15976	GATA1	M	1	I	M1I	Pathogenic	1	2	20	25
MUT:GATA1:Met1Thr	PROT:P15976	GATA1	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	20	25
MUT:GATA1:Met399Thr	PROT:P15976	GATA1	M	399	T	M399T	Likely benign	0	1	20	83
MUT:GATA1:Pro38Leu	PROT:P15976	GATA1	P	38	L	P38L	Benign/Likely benign	0	1	20	12
MUT:GATA1:Ser161Thr	PROT:P15976	GATA1	S	161	T	S161T	Likely benign	0	1	20	0
MUT:GATA1:Ser178Arg	PROT:P15976	GATA1	S	178	R	S178R	Likely benign	0	1	20	0
MUT:GATA1:Ser412Arg	PROT:P15976	GATA1	S	412	R	S412R	Benign	0	1	20	96
MUT:GATA1:Ser413Pro	PROT:P15976	GATA1	S	413	P	S413P	Benign	0	1	20	97
MUT:GATA1:Thr263Met	PROT:P15976	GATA1	T	263	M	T263M	Pathogenic	1	1	20	17
MUT:GATA1:Thr296Pro	PROT:P15976	GATA1	T	296	P	T296P	Pathogenic	1	1	20	8
MUT:GATA1:Thr403Ile	PROT:P15976	GATA1	T	403	I	T403I	Benign	0	1	20	87
MUT:GATA1:Val121Met	PROT:P15976	GATA1	V	121	M	V121M	Benign	0	1	20	5
MUT:GATA1:Val205Met	PROT:P15976	GATA1	V	205	M	V205M	Pathogenic	1	3	20	18
MUT:GATA1:Val371Met	PROT:P15976	GATA1	V	371	M	V371M	Benign	0	1	20	55
MUT:GATA1:Val74Leu	PROT:P15976	GATA1	V	74	L	V74L	Pathogenic	1	2	20	2
MUT:GATA2:Ala164Thr	PROT:P23769	GATA2	A	164	T	A164T	Benign	0	2	16	12
MUT:GATA2:Arg361Cys	PROT:P23769	GATA2	R	361	C	R361C	Pathogenic/Likely pathogenic	1	1	16	15
MUT:GATA2:Arg361Gly	PROT:P23769	GATA2	R	361	G	R361G	Likely pathogenic	1	1	16	15
MUT:GATA2:Arg361Leu	PROT:P23769	GATA2	R	361	L	R361L	Pathogenic	1	1	16	15
MUT:GATA2:Arg362Pro	PROT:P23769	GATA2	R	362	P	R362P	Likely pathogenic	1	1	16	14
MUT:GATA2:Arg398Gln	PROT:P23769	GATA2	R	398	Q	R398Q	Pathogenic/Likely pathogenic	1	1	16	3
MUT:GATA2:Arg398Trp	PROT:P23769	GATA2	R	398	W	R398W	Pathogenic	1	2	16	3
MUT:GATA2:Cys349Arg	PROT:P23769	GATA2	C	349	R	C349R	Pathogenic/Likely pathogenic	1	1	16	27
MUT:GATA2:Cys349Tyr	PROT:P23769	GATA2	C	349	Y	C349Y	Likely pathogenic	1	1	16	27
MUT:GATA2:Cys352Arg	PROT:P23769	GATA2	C	352	R	C352R	Likely pathogenic	1	1	16	24
MUT:GATA2:Cys373Arg	PROT:P23769	GATA2	C	373	R	C373R	Pathogenic/Likely pathogenic	1	1	16	3
MUT:GATA2:Cys373Gly	PROT:P23769	GATA2	C	373	G	C373G	Pathogenic	1	1	16	3
MUT:GATA2:Gly237Asp	PROT:P23769	GATA2	G	237	D	G237D	Benign/Likely benign	0	2	16	17
MUT:GATA2:Leu375Phe	PROT:P23769	GATA2	L	375	F	L375F	Likely pathogenic	1	1	16	1
MUT:GATA2:Pro250Ala	PROT:P23769	GATA2	P	250	A	P250A	Benign	0	1	16	30
MUT:GATA2:Pro27Ser	PROT:P23769	GATA2	P	27	S	P27S	Likely benign	0	1	16	44
MUT:GATA2:Pro368Arg	PROT:P23769	GATA2	P	368	R	P368R	Likely pathogenic	1	1	16	8
MUT:GATA2:Ser262Ile	PROT:P23769	GATA2	S	262	I	S262I	Likely benign	0	1	16	28
MUT:GATA2:Ser462Pro	PROT:P23769	GATA2	S	462	P	S462P	Likely benign	0	1	16	53
MUT:GATA2:Ser463Pro	PROT:P23769	GATA2	S	463	P	S463P	Likely benign	0	1	16	54
MUT:GATA2:Thr176Pro	PROT:P23769	GATA2	T	176	P	T176P	Likely pathogenic	1	1	16	0
MUT:GATA2:Thr354Met	PROT:P23769	GATA2	T	354	M	T354M	Pathogenic	1	3	16	22
MUT:GATA3:Ala396Thr	PROT:P23771	GATA3	A	396	T	A396T	Benign/Likely benign	0	1	19	15
MUT:GATA3:Arg299Gln	PROT:P23771	GATA3	R	299	Q	R299Q	Pathogenic/Likely pathogenic	1	1	19	5
MUT:GATA3:Arg299Trp	PROT:P23771	GATA3	R	299	W	R299W	Likely pathogenic	1	1	19	5
MUT:GATA3:Arg353Ser	PROT:P23771	GATA3	R	353	S	R353S	Pathogenic	1	1	19	7
MUT:GATA3:Arg353Thr	PROT:P23771	GATA3	R	353	T	R353T	Likely pathogenic	1	1	19	7
MUT:GATA3:Cys264Ser	PROT:P23771	GATA3	C	264	S	C264S	Pathogenic	1	1	19	7
MUT:GATA3:Cys288Ser	PROT:P23771	GATA3	C	288	S	C288S	Likely pathogenic	1	1	19	2
MUT:GATA3:Cys288Trp	PROT:P23771	GATA3	C	288	W	C288W	Pathogenic	1	1	19	2
MUT:GATA3:Cys321Ser	PROT:P23771	GATA3	C	321	S	C321S	Pathogenic	1	1	19	13
MUT:GATA3:Cys342Tyr	PROT:P23771	GATA3	C	342	Y	C342Y	Pathogenic	1	1	19	4
MUT:GATA3:Gly242Ser	PROT:P23771	GATA3	G	242	S	G242S	Likely benign	0	2	19	29
MUT:GATA3:Gly246Ala	PROT:P23771	GATA3	G	246	A	G246A	Benign/Likely benign	0	1	19	25
MUT:GATA3:Leu274Pro	PROT:P23771	GATA3	L	274	P	L274P	Likely pathogenic	1	1	19	3
MUT:GATA3:Trp275Arg	PROT:P23771	GATA3	W	275	R	W275R	Pathogenic	1	1	19	4
MUT:GATA3:Tyr345Cys	PROT:P23771	GATA3	Y	345	C	Y345C	Likely pathogenic	1	1	19	1
MUT:GATM:Ala185Pro	PROT:P50440	GATM	A	185	P	A185P	Likely pathogenic	1	1	20	16
MUT:GATM:Ala86Ser	PROT:P50440	GATM	A	86	S	A86S	Likely benign	0	1	20	14
MUT:GATM:Arg322Pro	PROT:P50440	GATM	R	322	P	R322P	Likely pathogenic	1	1	20	63
MUT:GATM:Arg413Gln	PROT:P50440	GATM	R	413	Q	R413Q	Likely pathogenic	1	1	20	4
MUT:GATM:Arg413Trp	PROT:P50440	GATM	R	413	W	R413W	Likely pathogenic	1	1	20	4
MUT:GATM:Arg415Gln	PROT:P50440	GATM	R	415	Q	R415Q	Benign	0	1	20	2
MUT:GATM:Cys87Arg	PROT:P50440	GATM	C	87	R	C87R	Likely pathogenic	1	1	20	13
MUT:GATM:Gln110His	PROT:P50440	GATM	Q	110	H	Q110H	Benign/Likely benign	0	2	20	1
MUT:GATM:Ile344Val	PROT:P50440	GATM	I	344	V	I344V	Benign	0	1	20	41
MUT:GATM:Pro320Ser	PROT:P50440	GATM	P	320	S	P320S	Pathogenic	1	1	20	65
MUT:GATM:Ser231Cys	PROT:P50440	GATM	S	231	C	S231C	Likely benign	0	1	20	0
MUT:GATM:Thr136Met	PROT:P50440	GATM	T	136	M	T136M	Benign	0	2	20	27
MUT:GATM:Tyr203Cys	PROT:P50440	GATM	Y	203	C	Y203C	Likely pathogenic	1	1	20	0
MUT:GATM:Tyr203Ser	PROT:P50440	GATM	Y	203	S	Y203S	Likely pathogenic	1	1	20	0
MUT:GBA1:Ala139Pro	PROT:P04062	GBA1	A	139	P	A139P	Likely pathogenic	1	1	17	3
MUT:GBA1:Ala249Val	PROT:P04062	GBA1	A	249	V	A249V	Likely pathogenic	1	1	17	5
MUT:GBA1:Ala357Asp	PROT:P04062	GBA1	A	357	D	A357D	Likely pathogenic	1	1	17	21
MUT:GBA1:Ala487Thr	PROT:P04062	GBA1	A	487	T	A487T	Likely pathogenic	1	2	17	25
MUT:GBA1:Arg159Gln	PROT:P04062	GBA1	R	159	Q	R159Q	Pathogenic/Likely pathogenic	1	4	17	23
MUT:GBA1:Arg159Trp	PROT:P04062	GBA1	R	159	W	R159W	Pathogenic	1	3	17	23
MUT:GBA1:Arg170Cys	PROT:P04062	GBA1	R	170	C	R170C	Pathogenic	1	2	17	24
MUT:GBA1:Arg170Leu	PROT:P04062	GBA1	R	170	L	R170L	Pathogenic/Likely pathogenic	1	2	17	24
MUT:GBA1:Arg209Cys	PROT:P04062	GBA1	R	209	C	R209C	Pathogenic/Likely pathogenic	1	2	17	15
MUT:GBA1:Arg209Leu	PROT:P04062	GBA1	R	209	L	R209L	Likely pathogenic	1	1	17	15
MUT:GBA1:Arg209Pro	PROT:P04062	GBA1	R	209	P	R209P	Pathogenic	1	1	17	15
MUT:GBA1:Arg296Gln	PROT:P04062	GBA1	R	296	Q	R296Q	Pathogenic	1	5	17	3
MUT:GBA1:Arg324His	PROT:P04062	GBA1	R	324	H	R324H	Likely pathogenic	1	1	17	8
MUT:GBA1:Arg324Pro	PROT:P04062	GBA1	R	324	P	R324P	Likely pathogenic	1	1	17	8
MUT:GBA1:Arg392Gly	PROT:P04062	GBA1	R	392	G	R392G	Likely pathogenic	1	2	17	13
MUT:GBA1:Arg392Trp	PROT:P04062	GBA1	R	392	W	R392W	Pathogenic/Likely pathogenic	1	1	17	13
MUT:GBA1:Arg398Gln	PROT:P04062	GBA1	R	398	Q	R398Q	Pathogenic/Likely pathogenic	1	1	17	7
MUT:GBA1:Arg398Pro	PROT:P04062	GBA1	R	398	P	R398P	Pathogenic/Likely pathogenic	1	1	17	7
MUT:GBA1:Arg434Cys	PROT:P04062	GBA1	R	434	C	R434C	Likely pathogenic	1	3	17	5
MUT:GBA1:Arg502Cys	PROT:P04062	GBA1	R	502	C	R502C	Pathogenic	1	6	17	10
MUT:GBA1:Arg502His	PROT:P04062	GBA1	R	502	H	R502H	Pathogenic/Likely pathogenic	1	2	17	10
MUT:GBA1:Arg502Ser	PROT:P04062	GBA1	R	502	S	R502S	Likely pathogenic	1	1	17	10
MUT:GBA1:Arg535Cys	PROT:P04062	GBA1	R	535	C	R535C	Pathogenic/Likely pathogenic	1	4	17	12
MUT:GBA1:Arg535His	PROT:P04062	GBA1	R	535	H	R535H	Pathogenic/Likely pathogenic	1	4	17	12
MUT:GBA1:Arg535Pro	PROT:P04062	GBA1	R	535	P	R535P	Likely pathogenic	1	1	17	12
MUT:GBA1:Arg87Gln	PROT:P04062	GBA1	R	87	Q	R87Q	Pathogenic	1	2	17	31
MUT:GBA1:Arg87Trp	PROT:P04062	GBA1	R	87	W	R87W	Pathogenic	1	5	17	31
MUT:GBA1:Asn131Ser	PROT:P04062	GBA1	N	131	S	N131S	Likely pathogenic	1	1	17	5
MUT:GBA1:Asn227Ile	PROT:P04062	GBA1	N	227	I	N227I	Pathogenic/Likely pathogenic	1	1	17	6
MUT:GBA1:Asn227Lys	PROT:P04062	GBA1	N	227	K	N227K	Pathogenic/Likely pathogenic	1	2	17	6
MUT:GBA1:Asn227Ser	PROT:P04062	GBA1	N	227	S	N227S	Pathogenic	1	5	17	6
MUT:GBA1:Asn435Thr	PROT:P04062	GBA1	N	435	T	N435T	Pathogenic	1	1	17	4
MUT:GBA1:Asn501Lys	PROT:P04062	GBA1	N	501	K	N501K	Likely pathogenic	1	2	17	11
MUT:GBA1:Asn501Tyr	PROT:P04062	GBA1	N	501	Y	N501Y	Likely pathogenic	1	1	17	11
MUT:GBA1:Asp166Glu	PROT:P04062	GBA1	D	166	E	D166E	Likely pathogenic	1	1	17	28
MUT:GBA1:Asp166Val	PROT:P04062	GBA1	D	166	V	D166V	Likely pathogenic	1	1	17	28
MUT:GBA1:Asp176Asn	PROT:P04062	GBA1	D	176	N	D176N	Pathogenic	1	1	17	18
MUT:GBA1:Asp180Asn	PROT:P04062	GBA1	D	180	N	D180N	Likely pathogenic	1	1	17	14
MUT:GBA1:Asp257Val	PROT:P04062	GBA1	D	257	V	D257V	Likely pathogenic	1	1	17	13
MUT:GBA1:Asp354Asn	PROT:P04062	GBA1	D	354	N	D354N	Likely pathogenic	1	1	17	18
MUT:GBA1:Asp419Ala	PROT:P04062	GBA1	D	419	A	D419A	Likely pathogenic	1	1	17	7
MUT:GBA1:Asp419Asn	PROT:P04062	GBA1	D	419	N	D419N	Pathogenic/Likely pathogenic	1	3	17	7
MUT:GBA1:Asp419His	PROT:P04062	GBA1	D	419	H	D419H	Likely pathogenic	1	2	17	7
MUT:GBA1:Asp438Asn	PROT:P04062	GBA1	D	438	N	D438N	Pathogenic	1	1	17	1
MUT:GBA1:Asp438His	PROT:P04062	GBA1	D	438	H	D438H	Likely pathogenic	1	1	17	1
MUT:GBA1:Asp444Val	PROT:P04062	GBA1	D	444	V	D444V	Likely pathogenic	1	1	17	3
MUT:GBA1:Asp448His	PROT:P04062	GBA1	D	448	H	D448H	Pathogenic/Likely pathogenic	1	7	17	1
MUT:GBA1:Asp448Val	PROT:P04062	GBA1	D	448	V	D448V	Pathogenic/Likely pathogenic	1	3	17	1
MUT:GBA1:Asp63Asn	PROT:P04062	GBA1	D	63	N	D63N	Likely pathogenic	1	1	17	55
MUT:GBA1:Cys165Tyr	PROT:P04062	GBA1	C	165	Y	C165Y	Likely pathogenic	1	1	17	29
MUT:GBA1:Cys381Arg	PROT:P04062	GBA1	C	381	R	C381R	Likely pathogenic	1	1	17	24
MUT:GBA1:Cys381Gly	PROT:P04062	GBA1	C	381	G	C381G	Likely pathogenic	1	2	17	24
MUT:GBA1:Cys381Tyr	PROT:P04062	GBA1	C	381	Y	C381Y	Pathogenic	1	1	17	24
MUT:GBA1:Glu150Lys	PROT:P04062	GBA1	E	150	K	E150K	Likely pathogenic	1	1	17	14
MUT:GBA1:Glu379Gln	PROT:P04062	GBA1	E	379	Q	E379Q	Likely pathogenic	1	1	17	26
MUT:GBA1:Glu388Lys	PROT:P04062	GBA1	E	388	K	E388K	Likely pathogenic	1	2	17	17
MUT:GBA1:Gly152Glu	PROT:P04062	GBA1	G	152	E	G152E	Likely pathogenic	1	1	17	16
MUT:GBA1:Gly232Trp	PROT:P04062	GBA1	G	232	W	G232W	Likely pathogenic	1	1	17	1
MUT:GBA1:Gly234Arg	PROT:P04062	GBA1	G	234	R	G234R	Likely pathogenic	1	1	17	1
MUT:GBA1:Gly234Glu	PROT:P04062	GBA1	G	234	E	G234E	Pathogenic	1	1	17	1
MUT:GBA1:Gly234Trp	PROT:P04062	GBA1	G	234	W	G234W	Pathogenic	1	1	17	1
MUT:GBA1:Gly241Arg	PROT:P04062	GBA1	G	241	R	G241R	Pathogenic	1	4	17	3
MUT:GBA1:Gly278Ala	PROT:P04062	GBA1	G	278	A	G278A	Likely pathogenic	1	1	17	15
MUT:GBA1:Gly289Ala	PROT:P04062	GBA1	G	289	A	G289A	Likely pathogenic	1	1	17	4
MUT:GBA1:Gly364Arg	PROT:P04062	GBA1	G	364	R	G364R	Likely pathogenic	1	3	17	28
MUT:GBA1:Gly399Arg	PROT:P04062	GBA1	G	399	R	G399R	Likely pathogenic	1	1	17	6
MUT:GBA1:Gly416Cys	PROT:P04062	GBA1	G	416	C	G416C	Likely pathogenic	1	1	17	4
MUT:GBA1:Gly416Ser	PROT:P04062	GBA1	G	416	S	G416S	Pathogenic/Likely pathogenic	1	3	17	4
MUT:GBA1:Gly74Ser	PROT:P04062	GBA1	G	74	S	G74S	Likely pathogenic	1	1	17	44
MUT:GBA1:Gly85Glu	PROT:P04062	GBA1	G	85	E	G85E	Pathogenic	1	2	17	33
MUT:GBA1:His350Arg	PROT:P04062	GBA1	H	350	R	H350R	Pathogenic/Likely pathogenic	1	2	17	14
MUT:GBA1:His413Pro	PROT:P04062	GBA1	H	413	P	H413P	Likely pathogenic	1	1	17	1
MUT:GBA1:Ile158Ser	PROT:P04062	GBA1	I	158	S	I158S	Likely pathogenic	1	1	17	22
MUT:GBA1:Ile158Val	PROT:P04062	GBA1	I	158	V	I158V	Likely pathogenic	1	1	17	22
MUT:GBA1:Ile200Ser	PROT:P04062	GBA1	I	200	S	I200S	Likely pathogenic	1	1	17	6
MUT:GBA1:Ile200Thr	PROT:P04062	GBA1	I	200	T	I200T	Likely pathogenic	1	1	17	6
MUT:GBA1:Ile299Asn	PROT:P04062	GBA1	I	299	N	I299N	Likely pathogenic	1	1	17	6
MUT:GBA1:Ile299Met	PROT:P04062	GBA1	I	299	M	I299M	Likely pathogenic	1	1	17	6
MUT:GBA1:Ile299Thr	PROT:P04062	GBA1	I	299	T	I299T	Likely pathogenic	1	1	17	6
MUT:GBA1:Ile441Phe	PROT:P04062	GBA1	I	441	F	I441F	Likely pathogenic	1	1	17	2
MUT:GBA1:Ile441Thr	PROT:P04062	GBA1	I	441	T	I441T	Likely pathogenic	1	1	17	2
MUT:GBA1:Ile442Thr	PROT:P04062	GBA1	I	442	T	I442T	Likely pathogenic	1	1	17	3
MUT:GBA1:Ile466Ser	PROT:P04062	GBA1	I	466	S	I466S	Likely pathogenic	1	1	17	15
MUT:GBA1:Ile528Thr	PROT:P04062	GBA1	I	528	T	I528T	Likely pathogenic	1	1	17	5
MUT:GBA1:Leu135Pro	PROT:P04062	GBA1	L	135	P	L135P	Likely pathogenic	1	1	17	1
MUT:GBA1:Leu303Val	PROT:P04062	GBA1	L	303	V	L303V	Likely pathogenic	1	1	17	8
MUT:GBA1:Leu363Pro	PROT:P04062	GBA1	L	363	P	L363P	Likely pathogenic	1	1	17	27
MUT:GBA1:Leu375Pro	PROT:P04062	GBA1	L	375	P	L375P	Likely pathogenic	1	1	17	30
MUT:GBA1:Leu393Val	PROT:P04062	GBA1	L	393	V	L393V	Likely pathogenic	1	2	17	12
MUT:GBA1:Leu410Val	PROT:P04062	GBA1	L	410	V	L410V	Pathogenic	1	2	17	2
MUT:GBA1:Leu411Pro	PROT:P04062	GBA1	L	411	P	L411P	Likely pathogenic	1	1	17	1
MUT:GBA1:Leu424Pro	PROT:P04062	GBA1	L	424	P	L424P	Likely pathogenic	1	2	17	12
MUT:GBA1:Leu483Arg	PROT:P04062	GBA1	L	483	R	L483R	Pathogenic/Likely pathogenic	1	5	17	29
MUT:GBA1:Leu483Gln	PROT:P04062	GBA1	L	483	Q	L483Q	Likely pathogenic	1	1	17	29
MUT:GBA1:Leu519Pro	PROT:P04062	GBA1	L	519	P	L519P	Likely pathogenic	1	1	17	4
MUT:GBA1:Lys118Asn	PROT:P04062	GBA1	K	118	N	K118N	Pathogenic/Likely pathogenic	1	3	17	0
MUT:GBA1:Lys13Arg	PROT:P04062	GBA1	K	13	R	K13R	Benign	0	2	17	105
MUT:GBA1:Lys196Gln	PROT:P04062	GBA1	K	196	Q	K196Q	Likely pathogenic	1	2	17	2
MUT:GBA1:Lys196Glu	PROT:P04062	GBA1	K	196	E	K196E	Likely pathogenic	1	1	17	2
MUT:GBA1:Lys237Glu	PROT:P04062	GBA1	K	237	E	K237E	Pathogenic/Likely pathogenic	1	1	17	0
MUT:GBA1:Lys452Gln	PROT:P04062	GBA1	K	452	Q	K452Q	Likely pathogenic	1	1	17	1
MUT:GBA1:Met124Arg	PROT:P04062	GBA1	M	124	R	M124R	Likely pathogenic	1	1	17	6
MUT:GBA1:Met124Thr	PROT:P04062	GBA1	M	124	T	M124T	Pathogenic	1	1	17	6
MUT:GBA1:Met162Lys	PROT:P04062	GBA1	M	162	K	M162K	Likely pathogenic	1	1	17	26
MUT:GBA1:Met455Val	PROT:P04062	GBA1	M	455	V	M455V	Pathogenic	1	1	17	4
MUT:GBA1:Met489Leu	PROT:P04062	GBA1	M	489	L	M489L	Likely pathogenic	1	1	17	23
MUT:GBA1:Phe120Leu	PROT:P04062	GBA1	F	120	L	F120L	Likely pathogenic	1	1	17	2
MUT:GBA1:Phe148Leu	PROT:P04062	GBA1	F	148	L	F148L	Likely pathogenic	1	1	17	12
MUT:GBA1:Phe252Ile	PROT:P04062	GBA1	F	252	I	F252I	Pathogenic/Likely pathogenic	1	6	17	8
MUT:GBA1:Phe252Ser	PROT:P04062	GBA1	F	252	S	F252S	Likely pathogenic	1	1	17	8
MUT:GBA1:Phe255Tyr	PROT:P04062	GBA1	F	255	Y	F255Y	Pathogenic/Likely pathogenic	1	3	17	11
MUT:GBA1:Phe255Val	PROT:P04062	GBA1	F	255	V	F255V	Pathogenic	1	1	17	11
MUT:GBA1:Phe290Leu	PROT:P04062	GBA1	F	290	L	F290L	Pathogenic	1	1	17	3
MUT:GBA1:Phe298Leu	PROT:P04062	GBA1	F	298	L	F298L	Likely pathogenic	1	2	17	5
MUT:GBA1:Phe370Leu	PROT:P04062	GBA1	F	370	L	F370L	Likely pathogenic	1	1	17	34
MUT:GBA1:Phe370Ser	PROT:P04062	GBA1	F	370	S	F370S	Likely pathogenic	1	1	17	34
MUT:GBA1:Phe450Ile	PROT:P04062	GBA1	F	450	I	F450I	Pathogenic	1	1	17	1
MUT:GBA1:Phe465Val	PROT:P04062	GBA1	F	465	V	F465V	Likely pathogenic	1	1	17	14
MUT:GBA1:Pro161Leu	PROT:P04062	GBA1	P	161	L	P161L	Likely pathogenic	1	1	17	25
MUT:GBA1:Pro161Ser	PROT:P04062	GBA1	P	161	S	P161S	Likely pathogenic	1	2	17	25
MUT:GBA1:Pro221Leu	PROT:P04062	GBA1	P	221	L	P221L	Pathogenic	1	1	17	12
MUT:GBA1:Pro221Thr	PROT:P04062	GBA1	P	221	T	P221T	Pathogenic/Likely pathogenic	1	1	17	12
MUT:GBA1:Pro240His	PROT:P04062	GBA1	P	240	H	P240H	Likely pathogenic	1	1	17	3
MUT:GBA1:Pro284His	PROT:P04062	GBA1	P	284	H	P284H	Likely pathogenic	1	1	17	9
MUT:GBA1:Pro284Thr	PROT:P04062	GBA1	P	284	T	P284T	Likely pathogenic	1	1	17	9
MUT:GBA1:Pro305Leu	PROT:P04062	GBA1	P	305	L	P305L	Likely pathogenic	1	2	17	6
MUT:GBA1:Pro328Leu	PROT:P04062	GBA1	P	328	L	P328L	Pathogenic	1	1	17	4
MUT:GBA1:Pro358Ala	PROT:P04062	GBA1	P	358	A	P358A	Likely pathogenic	1	1	17	22
MUT:GBA1:Pro358Leu	PROT:P04062	GBA1	P	358	L	P358L	Likely pathogenic	1	1	17	22
MUT:GBA1:Pro426Leu	PROT:P04062	GBA1	P	426	L	P426L	Likely pathogenic	1	2	17	13
MUT:GBA1:Pro430Leu	PROT:P04062	GBA1	P	430	L	P430L	Pathogenic	1	2	17	9
MUT:GBA1:Pro440Leu	PROT:P04062	GBA1	P	440	L	P440L	Pathogenic	1	1	17	1
MUT:GBA1:Pro454Arg	PROT:P04062	GBA1	P	454	R	P454R	Pathogenic	1	1	17	3
MUT:GBA1:Pro454Leu	PROT:P04062	GBA1	P	454	L	P454L	Pathogenic	1	1	17	3
MUT:GBA1:Ser164Arg	PROT:P04062	GBA1	S	164	R	S164R	Likely pathogenic	1	2	17	28
MUT:GBA1:Ser164Asn	PROT:P04062	GBA1	S	164	N	S164N	Likely pathogenic	1	1	17	28
MUT:GBA1:Ser235Pro	PROT:P04062	GBA1	S	235	P	S235P	Pathogenic/Likely pathogenic	1	2	17	2
MUT:GBA1:Ser310Arg	PROT:P04062	GBA1	S	310	R	S310R	Likely pathogenic	1	1	17	1
MUT:GBA1:Ser395Phe	PROT:P04062	GBA1	S	395	F	S395F	Pathogenic	1	2	17	10
MUT:GBA1:Ser403Asn	PROT:P04062	GBA1	S	403	N	S403N	Likely pathogenic	1	1	17	2
MUT:GBA1:Ser403Thr	PROT:P04062	GBA1	S	403	T	S403T	Likely pathogenic	1	2	17	2
MUT:GBA1:Ser405Arg	PROT:P04062	GBA1	S	405	R	S405R	Likely pathogenic	1	1	17	0
MUT:GBA1:Ser405Gly	PROT:P04062	GBA1	S	405	G	S405G	Likely pathogenic	1	1	17	0
MUT:GBA1:Ser405Thr	PROT:P04062	GBA1	S	405	T	S405T	Likely pathogenic	1	1	17	0
MUT:GBA1:Ser81Asn	PROT:P04062	GBA1	S	81	N	S81N	Likely pathogenic	1	1	17	37
MUT:GBA1:Thr173Ile	PROT:P04062	GBA1	T	173	I	T173I	Likely pathogenic	1	1	17	21
MUT:GBA1:Thr219Ile	PROT:P04062	GBA1	T	219	I	T219I	Likely pathogenic	1	1	17	14
MUT:GBA1:Thr362Ile	PROT:P04062	GBA1	T	362	I	T362I	Pathogenic/Likely pathogenic	1	3	17	26
MUT:GBA1:Thr82Ile	PROT:P04062	GBA1	T	82	I	T82I	Pathogenic/Likely pathogenic	1	1	17	36
MUT:GBA1:Trp351Arg	PROT:P04062	GBA1	W	351	R	W351R	Pathogenic	1	1	17	15
MUT:GBA1:Trp351Cys	PROT:P04062	GBA1	W	351	C	W351C	Likely pathogenic	1	2	17	15
MUT:GBA1:Trp351Ser	PROT:P04062	GBA1	W	351	S	W351S	Likely pathogenic	1	1	17	15
MUT:GBA1:Trp387Gly	PROT:P04062	GBA1	W	387	G	W387G	Likely pathogenic	1	1	17	18
MUT:GBA1:Trp417Cys	PROT:P04062	GBA1	W	417	C	W417C	Pathogenic	1	1	17	5
MUT:GBA1:Trp417Gly	PROT:P04062	GBA1	W	417	G	W417G	Pathogenic/Likely pathogenic	1	1	17	5
MUT:GBA1:Trp432Arg	PROT:P04062	GBA1	W	432	R	W432R	Likely pathogenic	1	2	17	7
MUT:GBA1:Tyr244Cys	PROT:P04062	GBA1	Y	244	C	Y244C	Likely pathogenic	1	1	17	0
MUT:GBA1:Tyr259Cys	PROT:P04062	GBA1	Y	259	C	Y259C	Likely pathogenic	1	2	17	15
MUT:GBA1:Tyr283His	PROT:P04062	GBA1	Y	283	H	Y283H	Pathogenic/Likely pathogenic	1	1	17	10
MUT:GBA1:Tyr343Cys	PROT:P04062	GBA1	Y	343	C	Y343C	Likely pathogenic	1	1	17	7
MUT:GBA1:Tyr352His	PROT:P04062	GBA1	Y	352	H	Y352H	Pathogenic	1	1	17	16
MUT:GBA1:Tyr402Cys	PROT:P04062	GBA1	Y	402	C	Y402C	Likely pathogenic	1	1	17	3
MUT:GBA1:Tyr402His	PROT:P04062	GBA1	Y	402	H	Y402H	Likely pathogenic	1	1	17	3
MUT:GBA1:Val230Gly	PROT:P04062	GBA1	V	230	G	V230G	Pathogenic/Likely pathogenic	1	1	17	3
MUT:GBA1:Val391Ala	PROT:P04062	GBA1	V	391	A	V391A	Likely pathogenic	1	1	17	14
MUT:GBA1:Val391Leu	PROT:P04062	GBA1	V	391	L	V391L	Pathogenic/Likely pathogenic	1	1	17	14
MUT:GBA1:Val414Leu	PROT:P04062	GBA1	V	414	L	V414L	Pathogenic/Likely pathogenic	1	2	17	2
MUT:GBA1:Val414Met	PROT:P04062	GBA1	V	414	M	V414M	Likely pathogenic	1	1	17	2
MUT:GBA1:Val433Leu	PROT:P04062	GBA1	V	433	L	V433L	Pathogenic/Likely pathogenic	1	4	17	6
MUT:GBA1:Val437Ile	PROT:P04062	GBA1	V	437	I	V437I	Likely pathogenic	1	1	17	2
MUT:GBA1:Val437Phe	PROT:P04062	GBA1	V	437	F	V437F	Pathogenic	1	1	17	2
MUT:GBA1:Val54Leu	PROT:P04062	GBA1	V	54	L	V54L	Likely pathogenic	1	2	17	64
MUT:GBA1:Val54Met	PROT:P04062	GBA1	V	54	M	V54M	Pathogenic/Likely pathogenic	1	2	17	64
MUT:GBE1:Ala214Thr	PROT:Q04446	GBE1	A	214	T	A214T	Benign/Likely benign	0	4	19	2
MUT:GBE1:Ala615Pro	PROT:Q04446	GBE1	A	615	P	A615P	Likely pathogenic	1	1	19	37
MUT:GBE1:Ala673Thr	PROT:Q04446	GBE1	A	673	T	A673T	Benign/Likely benign	0	2	19	21
MUT:GBE1:Arg190Gly	PROT:Q04446	GBE1	R	190	G	R190G	Benign/Likely benign	0	2	19	3
MUT:GBE1:Arg262Cys	PROT:Q04446	GBE1	R	262	C	R262C	Pathogenic/Likely pathogenic	1	3	19	45
MUT:GBE1:Arg355His	PROT:Q04446	GBE1	R	355	H	R355H	Pathogenic/Likely pathogenic	1	1	19	117
MUT:GBE1:Arg515Cys	PROT:Q04446	GBE1	R	515	C	R515C	Pathogenic/Likely pathogenic	1	2	19	39
MUT:GBE1:Arg515His	PROT:Q04446	GBE1	R	515	H	R515H	Pathogenic/Likely pathogenic	1	5	19	39
MUT:GBE1:Arg524Gln	PROT:Q04446	GBE1	R	524	Q	R524Q	Pathogenic/Likely pathogenic	1	3	19	30
MUT:GBE1:Asn541Asp	PROT:Q04446	GBE1	N	541	D	N541D	Pathogenic/Likely pathogenic	1	1	19	13
MUT:GBE1:Asn556Tyr	PROT:Q04446	GBE1	N	556	Y	N556Y	Likely pathogenic	1	1	19	2
MUT:GBE1:Asp487Tyr	PROT:Q04446	GBE1	D	487	Y	D487Y	Likely pathogenic	1	1	19	15
MUT:GBE1:Gln236His	PROT:Q04446	GBE1	Q	236	H	Q236H	Pathogenic/Likely pathogenic	1	4	19	19
MUT:GBE1:Glu333Val	PROT:Q04446	GBE1	E	333	V	E333V	Pathogenic/Likely pathogenic	1	1	19	116
MUT:GBE1:Gly280Asp	PROT:Q04446	GBE1	G	280	D	G280D	Benign/Likely benign	0	2	19	63
MUT:GBE1:His188Pro	PROT:Q04446	GBE1	H	188	P	H188P	Likely pathogenic	1	1	19	1
MUT:GBE1:His243Arg	PROT:Q04446	GBE1	H	243	R	H243R	Likely pathogenic	1	1	19	26
MUT:GBE1:His319Arg	PROT:Q04446	GBE1	H	319	R	H319R	Pathogenic/Likely pathogenic	1	1	19	102
MUT:GBE1:His545Arg	PROT:Q04446	GBE1	H	545	R	H545R	Likely pathogenic	1	2	19	9
MUT:GBE1:His628Arg	PROT:Q04446	GBE1	H	628	R	H628R	Pathogenic/Likely pathogenic	1	2	19	24
MUT:GBE1:Ile334Val	PROT:Q04446	GBE1	I	334	V	I334V	Benign	0	2	19	117
MUT:GBE1:Ile59Thr	PROT:Q04446	GBE1	I	59	T	I59T	Benign	0	2	19	2
MUT:GBE1:Ile694Asn	PROT:Q04446	GBE1	I	694	N	I694N	Pathogenic/Likely pathogenic	1	1	19	42
MUT:GBE1:Leu224Pro	PROT:Q04446	GBE1	L	224	P	L224P	Pathogenic/Likely pathogenic	1	3	19	7
MUT:GBE1:Phe257Ser	PROT:Q04446	GBE1	F	257	S	F257S	Likely pathogenic	1	1	19	40
MUT:GBE1:Pro40Thr	PROT:Q04446	GBE1	P	40	T	P40T	Benign/Likely benign	0	3	19	10
MUT:GBE1:Pro552Leu	PROT:Q04446	GBE1	P	552	L	P552L	Likely pathogenic	1	1	19	2
MUT:GBE1:Ser378Arg	PROT:Q04446	GBE1	S	378	R	S378R	Benign/Likely benign	0	3	19	94
MUT:GBE1:Ser666Asn	PROT:Q04446	GBE1	S	666	N	S666N	Likely benign	0	1	19	14
MUT:GBE1:Thr507Ala	PROT:Q04446	GBE1	T	507	A	T507A	Benign	0	2	19	35
MUT:GBE1:Tyr329Ser	PROT:Q04446	GBE1	Y	329	S	Y329S	Pathogenic	1	6	19	112
MUT:GBE1:Tyr535Cys	PROT:Q04446	GBE1	Y	535	C	Y535C	Pathogenic/Likely pathogenic	1	2	19	19
MUT:GBE1:Val287Leu	PROT:Q04446	GBE1	V	287	L	V287L	Benign	0	2	19	70
MUT:GBF1:Ala1138Val	PROT:Q92538	GBF1	A	1138	V	A1138V	Pathogenic/Likely pathogenic	1	2	28	147
MUT:GBF1:Arg1462Gln	PROT:Q92538	GBF1	R	1462	Q	R1462Q	Pathogenic/Likely pathogenic	1	2	28	2
MUT:GBF1:Cys983Tyr	PROT:Q92538	GBF1	C	983	Y	C983Y	Pathogenic/Likely pathogenic	1	2	28	8
MUT:GBP2:Met11Val	PROT:P32456	GBP2	M	11	V	M11V	Likely benign	0	1	2	41
MUT:GC:Asp432Glu	PROT:P02774	GC	D	432	E	D432E	Benign	0	2	1	222
MUT:GC:His445Tyr	PROT:P02774	GC	H	445	Y	H445Y	Benign	0	1	1	235
MUT:GC:Thr436Lys	PROT:P02774	GC	T	436	K	T436K	Benign	0	2	1	226
MUT:GCC2:Glu853Gly	PROT:Q8IWJ2	GCC2	E	853	G	E853G	Benign	0	1	32	37
MUT:GCC2:His124Arg	PROT:Q8IWJ2	GCC2	H	124	R	H124R	Likely benign	0	1	32	19
MUT:GCC2:Ile1414Val	PROT:Q8IWJ2	GCC2	I	1414	V	I1414V	Likely benign	0	1	32	69
MUT:GCC2:Ile318Val	PROT:Q8IWJ2	GCC2	I	318	V	I318V	Likely benign	0	1	32	31
MUT:GCC2:Pro62Arg	PROT:Q8IWJ2	GCC2	P	62	R	P62R	Benign	0	1	32	10
MUT:GCC2:Thr1120Ser	PROT:Q8IWJ2	GCC2	T	1120	S	T1120S	Benign	0	1	32	21
MUT:GCC2:Thr593Ser	PROT:Q8IWJ2	GCC2	T	593	S	T593S	Benign	0	9	32	63
MUT:GCDH:Ala195Thr	PROT:Q92947	GCDH	A	195	T	A195T	Pathogenic/Likely pathogenic	1	1	16	5
MUT:GCDH:Ala219Thr	PROT:Q92947	GCDH	A	219	T	A219T	Pathogenic/Likely pathogenic	1	1	16	17
MUT:GCDH:Ala293Thr	PROT:Q92947	GCDH	A	293	T	A293T	Pathogenic	1	1	16	38
MUT:GCDH:Ala293Val	PROT:Q92947	GCDH	A	293	V	A293V	Pathogenic	1	1	16	38
MUT:GCDH:Ala298Thr	PROT:Q92947	GCDH	A	298	T	A298T	Pathogenic	1	1	16	43
MUT:GCDH:Ala304Val	PROT:Q92947	GCDH	A	304	V	A304V	Likely pathogenic	1	1	16	49
MUT:GCDH:Ala349Thr	PROT:Q92947	GCDH	A	349	T	A349T	Pathogenic	1	1	16	12
MUT:GCDH:Ala362Asp	PROT:Q92947	GCDH	A	362	D	A362D	Benign/Likely benign	0	2	16	1
MUT:GCDH:Ala378Val	PROT:Q92947	GCDH	A	378	V	A378V	Pathogenic	1	1	16	1
MUT:GCDH:Ala404Gly	PROT:Q92947	GCDH	A	404	G	A404G	Pathogenic	1	1	16	6
MUT:GCDH:Ala421Val	PROT:Q92947	GCDH	A	421	V	A421V	Pathogenic	1	1	16	8
MUT:GCDH:Ala433Glu	PROT:Q92947	GCDH	A	433	E	A433E	Pathogenic/Likely pathogenic	1	1	16	4
MUT:GCDH:Ala433Val	PROT:Q92947	GCDH	A	433	V	A433V	Pathogenic/Likely pathogenic	1	1	16	4
MUT:GCDH:Ala86Gly	PROT:Q92947	GCDH	A	86	G	A86G	Pathogenic/Likely pathogenic	1	1	16	54
MUT:GCDH:Ala86Val	PROT:Q92947	GCDH	A	86	V	A86V	Likely pathogenic	1	1	16	54
MUT:GCDH:Arg128Gln	PROT:Q92947	GCDH	R	128	Q	R128Q	Pathogenic/Likely pathogenic	1	1	16	35
MUT:GCDH:Arg132Gln	PROT:Q92947	GCDH	R	132	Q	R132Q	Pathogenic/Likely pathogenic	1	1	16	31
MUT:GCDH:Arg138Lys	PROT:Q92947	GCDH	R	138	K	R138K	Pathogenic/Likely pathogenic	1	1	16	25
MUT:GCDH:Arg161Gln	PROT:Q92947	GCDH	R	161	Q	R161Q	Pathogenic/Likely pathogenic	1	1	16	2
MUT:GCDH:Arg161Trp	PROT:Q92947	GCDH	R	161	W	R161W	Pathogenic	1	1	16	2
MUT:GCDH:Arg227Gln	PROT:Q92947	GCDH	R	227	Q	R227Q	Likely pathogenic	1	1	16	13
MUT:GCDH:Arg227Gly	PROT:Q92947	GCDH	R	227	G	R227G	Likely pathogenic	1	1	16	13
MUT:GCDH:Arg227Pro	PROT:Q92947	GCDH	R	227	P	R227P	Pathogenic	1	1	16	13
MUT:GCDH:Arg234Pro	PROT:Q92947	GCDH	R	234	P	R234P	Likely pathogenic	1	1	16	6
MUT:GCDH:Arg234Trp	PROT:Q92947	GCDH	R	234	W	R234W	Pathogenic/Likely pathogenic	1	1	16	6
MUT:GCDH:Arg257Gln	PROT:Q92947	GCDH	R	257	Q	R257Q	Pathogenic	1	1	16	2
MUT:GCDH:Arg257Trp	PROT:Q92947	GCDH	R	257	W	R257W	Pathogenic/Likely pathogenic	1	1	16	2
MUT:GCDH:Arg294Gln	PROT:Q92947	GCDH	R	294	Q	R294Q	Pathogenic/Likely pathogenic	1	1	16	39
MUT:GCDH:Arg294Leu	PROT:Q92947	GCDH	R	294	L	R294L	Likely pathogenic	1	1	16	39
MUT:GCDH:Arg294Pro	PROT:Q92947	GCDH	R	294	P	R294P	Pathogenic	1	1	16	39
MUT:GCDH:Arg294Trp	PROT:Q92947	GCDH	R	294	W	R294W	Pathogenic/Likely pathogenic	1	1	16	39
MUT:GCDH:Arg313Gln	PROT:Q92947	GCDH	R	313	Q	R313Q	Pathogenic/Likely pathogenic	1	1	16	48
MUT:GCDH:Arg313Trp	PROT:Q92947	GCDH	R	313	W	R313W	Pathogenic/Likely pathogenic	1	1	16	48
MUT:GCDH:Arg355Cys	PROT:Q92947	GCDH	R	355	C	R355C	Pathogenic/Likely pathogenic	1	1	16	6
MUT:GCDH:Arg355His	PROT:Q92947	GCDH	R	355	H	R355H	Pathogenic/Likely pathogenic	1	2	16	6
MUT:GCDH:Arg35Lys	PROT:Q92947	GCDH	R	35	K	R35K	Likely benign	0	1	16	3
MUT:GCDH:Arg372Lys	PROT:Q92947	GCDH	R	372	K	R372K	Pathogenic/Likely pathogenic	1	1	16	1
MUT:GCDH:Arg372Ser	PROT:Q92947	GCDH	R	372	S	R372S	Likely pathogenic	1	1	16	1
MUT:GCDH:Arg383Cys	PROT:Q92947	GCDH	R	383	C	R383C	Pathogenic/Likely pathogenic	1	1	16	6
MUT:GCDH:Arg383His	PROT:Q92947	GCDH	R	383	H	R383H	Pathogenic/Likely pathogenic	1	1	16	6
MUT:GCDH:Arg386Gln	PROT:Q92947	GCDH	R	386	Q	R386Q	Pathogenic/Likely pathogenic	1	1	16	9
MUT:GCDH:Arg386Gly	PROT:Q92947	GCDH	R	386	G	R386G	Pathogenic/Likely pathogenic	1	1	16	9
MUT:GCDH:Arg402Gln	PROT:Q92947	GCDH	R	402	Q	R402Q	Pathogenic/Likely pathogenic	1	1	16	4
MUT:GCDH:Arg402Gly	PROT:Q92947	GCDH	R	402	G	R402G	Pathogenic	1	1	16	4
MUT:GCDH:Arg402Trp	PROT:Q92947	GCDH	R	402	W	R402W	Pathogenic/Likely pathogenic	1	3	16	4
MUT:GCDH:Arg68Ser	PROT:Q92947	GCDH	R	68	S	R68S	Likely pathogenic	1	1	16	36
MUT:GCDH:Arg82Cys	PROT:Q92947	GCDH	R	82	C	R82C	Likely pathogenic	1	1	16	50
MUT:GCDH:Arg88Cys	PROT:Q92947	GCDH	R	88	C	R88C	Pathogenic	1	1	16	56
MUT:GCDH:Arg88Gly	PROT:Q92947	GCDH	R	88	G	R88G	Likely pathogenic	1	1	16	56
MUT:GCDH:Arg88His	PROT:Q92947	GCDH	R	88	H	R88H	Pathogenic/Likely pathogenic	1	1	16	56
MUT:GCDH:Arg88Pro	PROT:Q92947	GCDH	R	88	P	R88P	Likely pathogenic	1	1	16	56
MUT:GCDH:Arg88Ser	PROT:Q92947	GCDH	R	88	S	R88S	Pathogenic/Likely pathogenic	1	1	16	56
MUT:GCDH:Arg94Gln	PROT:Q92947	GCDH	R	94	Q	R94Q	Pathogenic/Likely pathogenic	1	1	16	62
MUT:GCDH:Arg94Leu	PROT:Q92947	GCDH	R	94	L	R94L	Pathogenic/Likely pathogenic	1	1	16	62
MUT:GCDH:Asn291Lys	PROT:Q92947	GCDH	N	291	K	N291K	Pathogenic/Likely pathogenic	1	1	16	36
MUT:GCDH:Asn373Ser	PROT:Q92947	GCDH	N	373	S	N373S	Likely pathogenic	1	1	16	2
MUT:GCDH:Asn392Ser	PROT:Q92947	GCDH	N	392	S	N392S	Pathogenic/Likely pathogenic	1	1	16	6
MUT:GCDH:Asp187Glu	PROT:Q92947	GCDH	D	187	E	D187E	Pathogenic/Likely pathogenic	1	2	16	13
MUT:GCDH:Asp220Tyr	PROT:Q92947	GCDH	D	220	Y	D220Y	Pathogenic	1	1	16	18
MUT:GCDH:Asp220Val	PROT:Q92947	GCDH	D	220	V	D220V	Likely pathogenic	1	1	16	18
MUT:GCDH:Asp387Asn	PROT:Q92947	GCDH	D	387	N	D387N	Likely pathogenic	1	1	16	10
MUT:GCDH:Asp396Asn	PROT:Q92947	GCDH	D	396	N	D396N	Likely pathogenic	1	1	16	2
MUT:GCDH:Cys115Tyr	PROT:Q92947	GCDH	C	115	Y	C115Y	Pathogenic/Likely pathogenic	1	1	16	48
MUT:GCDH:Cys350Arg	PROT:Q92947	GCDH	C	350	R	C350R	Likely pathogenic	1	1	16	11
MUT:GCDH:Cys375Arg	PROT:Q92947	GCDH	C	375	R	C375R	Pathogenic/Likely pathogenic	1	2	16	2
MUT:GCDH:Gln144Pro	PROT:Q92947	GCDH	Q	144	P	Q144P	Pathogenic	1	1	16	19
MUT:GCDH:Gln160Arg	PROT:Q92947	GCDH	Q	160	R	Q160R	Pathogenic/Likely pathogenic	1	1	16	3
MUT:GCDH:Gln162Glu	PROT:Q92947	GCDH	Q	162	E	Q162E	Likely benign	0	1	16	1
MUT:GCDH:Gln333Arg	PROT:Q92947	GCDH	Q	333	R	Q333R	Pathogenic	1	1	16	28
MUT:GCDH:Glu181Gln	PROT:Q92947	GCDH	E	181	Q	E181Q	Pathogenic/Likely pathogenic	1	1	16	18
MUT:GCDH:Glu181Lys	PROT:Q92947	GCDH	E	181	K	E181K	Likely pathogenic	1	1	16	18
MUT:GCDH:Glu365Lys	PROT:Q92947	GCDH	E	365	K	E365K	Pathogenic	1	1	16	4
MUT:GCDH:Glu408Lys	PROT:Q92947	GCDH	E	408	K	E408K	Likely pathogenic	1	1	16	10
MUT:GCDH:Glu414Lys	PROT:Q92947	GCDH	E	414	K	E414K	Pathogenic/Likely pathogenic	1	3	16	15
MUT:GCDH:Glu64Asp	PROT:Q92947	GCDH	E	64	D	E64D	Pathogenic/Likely pathogenic	1	1	16	32
MUT:GCDH:Glu90Lys	PROT:Q92947	GCDH	E	90	K	E90K	Likely pathogenic	1	1	16	58
MUT:GCDH:Gly101Arg	PROT:Q92947	GCDH	G	101	R	G101R	Pathogenic/Likely pathogenic	1	1	16	62
MUT:GCDH:Gly117Arg	PROT:Q92947	GCDH	G	117	R	G117R	Pathogenic	1	1	16	46
MUT:GCDH:Gly136Cys	PROT:Q92947	GCDH	G	136	C	G136C	Pathogenic	1	1	16	27
MUT:GCDH:Gly156Ser	PROT:Q92947	GCDH	G	156	S	G156S	Likely pathogenic	1	1	16	7
MUT:GCDH:Gly156Val	PROT:Q92947	GCDH	G	156	V	G156V	Pathogenic	1	1	16	7
MUT:GCDH:Gly171Arg	PROT:Q92947	GCDH	G	171	R	G171R	Likely pathogenic	1	1	16	8
MUT:GCDH:Gly171Trp	PROT:Q92947	GCDH	G	171	W	G171W	Pathogenic/Likely pathogenic	1	1	16	8
MUT:GCDH:Gly175Ser	PROT:Q92947	GCDH	G	175	S	G175S	Pathogenic	1	1	16	12
MUT:GCDH:Gly178Arg	PROT:Q92947	GCDH	G	178	R	G178R	Pathogenic/Likely pathogenic	1	1	16	15
MUT:GCDH:Gly178Glu	PROT:Q92947	GCDH	G	178	E	G178E	Pathogenic/Likely pathogenic	1	1	16	15
MUT:GCDH:Gly185Arg	PROT:Q92947	GCDH	G	185	R	G185R	Pathogenic/Likely pathogenic	1	2	16	15
MUT:GCDH:Gly185Glu	PROT:Q92947	GCDH	G	185	E	G185E	Pathogenic	1	1	16	15
MUT:GCDH:Gly244Cys	PROT:Q92947	GCDH	G	244	C	G244C	Likely pathogenic	1	1	16	2
MUT:GCDH:Gly268Val	PROT:Q92947	GCDH	G	268	V	G268V	Pathogenic/Likely pathogenic	1	1	16	13
MUT:GCDH:Gly296Ser	PROT:Q92947	GCDH	G	296	S	G296S	Likely benign	0	1	16	41
MUT:GCDH:Gly354Arg	PROT:Q92947	GCDH	G	354	R	G354R	Pathogenic	1	1	16	7
MUT:GCDH:Gly354Cys	PROT:Q92947	GCDH	G	354	C	G354C	Pathogenic	1	1	16	7
MUT:GCDH:Gly354Ser	PROT:Q92947	GCDH	G	354	S	G354S	Pathogenic	1	1	16	7
MUT:GCDH:Gly376Trp	PROT:Q92947	GCDH	G	376	W	G376W	Likely pathogenic	1	1	16	1
MUT:GCDH:Gly390Ala	PROT:Q92947	GCDH	G	390	A	G390A	Pathogenic	1	1	16	8
MUT:GCDH:Gly390Arg	PROT:Q92947	GCDH	G	390	R	G390R	Pathogenic/Likely pathogenic	1	1	16	8
MUT:GCDH:Gly390Glu	PROT:Q92947	GCDH	G	390	E	G390E	Pathogenic/Likely pathogenic	1	1	16	8
MUT:GCDH:Gly390Trp	PROT:Q92947	GCDH	G	390	W	G390W	Pathogenic/Likely pathogenic	1	1	16	8
MUT:GCDH:Gly390Val	PROT:Q92947	GCDH	G	390	V	G390V	Likely pathogenic	1	1	16	8
MUT:GCDH:Gly425Val	PROT:Q92947	GCDH	G	425	V	G425V	Likely pathogenic	1	1	16	4
MUT:GCDH:His403Arg	PROT:Q92947	GCDH	H	403	R	H403R	Pathogenic	1	1	16	5
MUT:GCDH:His403Gln	PROT:Q92947	GCDH	H	403	Q	H403Q	Likely pathogenic	1	1	16	5
MUT:GCDH:His403Tyr	PROT:Q92947	GCDH	H	403	Y	H403Y	Pathogenic/Likely pathogenic	1	2	16	5
MUT:GCDH:His417Asp	PROT:Q92947	GCDH	H	417	D	H417D	Pathogenic	1	1	16	12
MUT:GCDH:His417Tyr	PROT:Q92947	GCDH	H	417	Y	H417Y	Likely pathogenic	1	1	16	12
MUT:GCDH:His93Leu	PROT:Q92947	GCDH	H	93	L	H93L	Likely pathogenic	1	1	16	61
MUT:GCDH:Ile152Met	PROT:Q92947	GCDH	I	152	M	I152M	Pathogenic	1	1	16	11
MUT:GCDH:Ile381Thr	PROT:Q92947	GCDH	I	381	T	I381T	Likely pathogenic	1	1	16	4
MUT:GCDH:Ile394Met	PROT:Q92947	GCDH	I	394	M	I394M	Pathogenic	1	1	16	4
MUT:GCDH:Leu130Pro	PROT:Q92947	GCDH	L	130	P	L130P	Pathogenic/Likely pathogenic	1	1	16	33
MUT:GCDH:Leu179Phe	PROT:Q92947	GCDH	L	179	F	L179F	Likely pathogenic	1	1	16	16
MUT:GCDH:Leu179Val	PROT:Q92947	GCDH	L	179	V	L179V	Pathogenic/Likely pathogenic	1	1	16	16
MUT:GCDH:Leu221Pro	PROT:Q92947	GCDH	L	221	P	L221P	Likely pathogenic	1	1	16	19
MUT:GCDH:Leu238Pro	PROT:Q92947	GCDH	L	238	P	L238P	Pathogenic	1	1	16	2
MUT:GCDH:Leu283Pro	PROT:Q92947	GCDH	L	283	P	L283P	Pathogenic/Likely pathogenic	1	1	16	28
MUT:GCDH:Leu302Pro	PROT:Q92947	GCDH	L	302	P	L302P	Pathogenic	1	1	16	47
MUT:GCDH:Leu407Pro	PROT:Q92947	GCDH	L	407	P	L407P	Likely pathogenic	1	1	16	9
MUT:GCDH:Leu407Val	PROT:Q92947	GCDH	L	407	V	L407V	Likely pathogenic	1	1	16	9
MUT:GCDH:Leu56Arg	PROT:Q92947	GCDH	L	56	R	L56R	Pathogenic	1	1	16	24
MUT:GCDH:Lys361Thr	PROT:Q92947	GCDH	K	361	T	K361T	Likely pathogenic	1	1	16	0
MUT:GCDH:Met100Ile	PROT:Q92947	GCDH	M	100	I	M100I	Pathogenic/Likely pathogenic	1	1	16	63
MUT:GCDH:Met100Thr	PROT:Q92947	GCDH	M	100	T	M100T	Likely pathogenic	1	1	16	63
MUT:GCDH:Met149Val	PROT:Q92947	GCDH	M	149	V	M149V	Pathogenic	1	1	16	14
MUT:GCDH:Met191Arg	PROT:Q92947	GCDH	M	191	R	M191R	Likely pathogenic	1	1	16	9
MUT:GCDH:Met191Thr	PROT:Q92947	GCDH	M	191	T	M191T	Pathogenic/Likely pathogenic	1	1	16	9
MUT:GCDH:Met1Ile	PROT:Q92947	GCDH	M	1	I	M1I	Likely pathogenic	1	1	16	31
MUT:GCDH:Met1Leu	PROT:Q92947	GCDH	M	1	L	M1L	Likely pathogenic	1	1	16	31
MUT:GCDH:Met1Val	PROT:Q92947	GCDH	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	16	31
MUT:GCDH:Met263Thr	PROT:Q92947	GCDH	M	263	T	M263T	Likely pathogenic	1	1	16	8
MUT:GCDH:Met263Val	PROT:Q92947	GCDH	M	263	V	M263V	Likely pathogenic	1	1	16	8
MUT:GCDH:Met266Thr	PROT:Q92947	GCDH	M	266	T	M266T	Pathogenic/Likely pathogenic	1	1	16	11
MUT:GCDH:Met266Val	PROT:Q92947	GCDH	M	266	V	M266V	Pathogenic/Likely pathogenic	1	1	16	11
MUT:GCDH:Met339Arg	PROT:Q92947	GCDH	M	339	R	M339R	Likely pathogenic	1	1	16	22
MUT:GCDH:Met339Val	PROT:Q92947	GCDH	M	339	V	M339V	Pathogenic/Likely pathogenic	1	1	16	22
MUT:GCDH:Met405Thr	PROT:Q92947	GCDH	M	405	T	M405T	Likely pathogenic	1	1	16	7
MUT:GCDH:Met405Val	PROT:Q92947	GCDH	M	405	V	M405V	Pathogenic/Likely pathogenic	1	2	16	7
MUT:GCDH:Phe236Leu	PROT:Q92947	GCDH	F	236	L	F236L	Pathogenic/Likely pathogenic	1	1	16	4
MUT:GCDH:Phe92Cys	PROT:Q92947	GCDH	F	92	C	F92C	Pathogenic	1	1	16	60
MUT:GCDH:Pro217Leu	PROT:Q92947	GCDH	P	217	L	P217L	Likely pathogenic	1	1	16	15
MUT:GCDH:Pro248Leu	PROT:Q92947	GCDH	P	248	L	P248L	Pathogenic	1	1	16	2
MUT:GCDH:Pro278Arg	PROT:Q92947	GCDH	P	278	R	P278R	Pathogenic/Likely pathogenic	1	1	16	23
MUT:GCDH:Pro286Ser	PROT:Q92947	GCDH	P	286	S	P286S	Likely pathogenic	1	1	16	31
MUT:GCDH:Pro53Leu	PROT:Q92947	GCDH	P	53	L	P53L	Likely pathogenic	1	1	16	21
MUT:GCDH:Pro53Ser	PROT:Q92947	GCDH	P	53	S	P53S	Pathogenic/Likely pathogenic	1	1	16	21
MUT:GCDH:Ser139Leu	PROT:Q92947	GCDH	S	139	L	S139L	Pathogenic	1	1	16	24
MUT:GCDH:Ser139Trp	PROT:Q92947	GCDH	S	139	W	S139W	Pathogenic/Likely pathogenic	1	1	16	24
MUT:GCDH:Ser142Arg	PROT:Q92947	GCDH	S	142	R	S142R	Likely pathogenic	1	1	16	21
MUT:GCDH:Ser146Tyr	PROT:Q92947	GCDH	S	146	Y	S146Y	Likely pathogenic	1	1	16	17
MUT:GCDH:Ser246Leu	PROT:Q92947	GCDH	S	246	L	S246L	Likely pathogenic	1	1	16	0
MUT:GCDH:Ser255Leu	PROT:Q92947	GCDH	S	255	L	S255L	Pathogenic/Likely pathogenic	1	1	16	0
MUT:GCDH:Ser255Pro	PROT:Q92947	GCDH	S	255	P	S255P	Pathogenic/Likely pathogenic	1	1	16	0
MUT:GCDH:Ser259Leu	PROT:Q92947	GCDH	S	259	L	S259L	Pathogenic/Likely pathogenic	1	1	16	4
MUT:GCDH:Ser259Pro	PROT:Q92947	GCDH	S	259	P	S259P	Pathogenic	1	1	16	4
MUT:GCDH:Ser305Leu	PROT:Q92947	GCDH	S	305	L	S305L	Pathogenic/Likely pathogenic	1	1	16	50
MUT:GCDH:Ser368Tyr	PROT:Q92947	GCDH	S	368	Y	S368Y	Pathogenic	1	1	16	3
MUT:GCDH:Thr214Met	PROT:Q92947	GCDH	T	214	M	T214M	Pathogenic/Likely pathogenic	1	1	16	12
MUT:GCDH:Thr344Ile	PROT:Q92947	GCDH	T	344	I	T344I	Pathogenic/Likely pathogenic	1	1	16	17
MUT:GCDH:Thr416Ile	PROT:Q92947	GCDH	T	416	I	T416I	Likely pathogenic	1	1	16	13
MUT:GCDH:Thr429Met	PROT:Q92947	GCDH	T	429	M	T429M	Pathogenic/Likely pathogenic	1	1	16	0
MUT:GCDH:Trp225Ser	PROT:Q92947	GCDH	W	225	S	W225S	Likely pathogenic	1	1	16	15
MUT:GCDH:Trp50Arg	PROT:Q92947	GCDH	W	50	R	W50R	Pathogenic/Likely pathogenic	1	1	16	18
MUT:GCDH:Trp50Cys	PROT:Q92947	GCDH	W	50	C	W50C	Pathogenic/Likely pathogenic	1	1	16	18
MUT:GCDH:Trp50Gly	PROT:Q92947	GCDH	W	50	G	W50G	Pathogenic/Likely pathogenic	1	1	16	18
MUT:GCDH:Tyr113Cys	PROT:Q92947	GCDH	Y	113	C	Y113C	Likely pathogenic	1	1	16	50
MUT:GCDH:Tyr113His	PROT:Q92947	GCDH	Y	113	H	Y113H	Pathogenic	1	1	16	50
MUT:GCDH:Tyr123His	PROT:Q92947	GCDH	Y	123	H	Y123H	Pathogenic	1	1	16	40
MUT:GCDH:Tyr155Cys	PROT:Q92947	GCDH	Y	155	C	Y155C	Pathogenic/Likely pathogenic	1	1	16	8
MUT:GCDH:Tyr155His	PROT:Q92947	GCDH	Y	155	H	Y155H	Pathogenic	1	1	16	8
MUT:GCDH:Tyr164Asn	PROT:Q92947	GCDH	Y	164	N	Y164N	Pathogenic	1	1	16	1
MUT:GCDH:Tyr295His	PROT:Q92947	GCDH	Y	295	H	Y295H	Pathogenic/Likely pathogenic	1	1	16	40
MUT:GCDH:Tyr398Cys	PROT:Q92947	GCDH	Y	398	C	Y398C	Pathogenic/Likely pathogenic	1	1	16	0
MUT:GCDH:Tyr413Cys	PROT:Q92947	GCDH	Y	413	C	Y413C	Pathogenic	1	1	16	15
MUT:GCDH:Val133Gly	PROT:Q92947	GCDH	V	133	G	V133G	Likely pathogenic	1	1	16	30
MUT:GCDH:Val133Met	PROT:Q92947	GCDH	V	133	M	V133M	Pathogenic/Likely pathogenic	1	1	16	30
MUT:GCDH:Val148Ile	PROT:Q92947	GCDH	V	148	I	V148I	Pathogenic/Likely pathogenic	1	1	16	15
MUT:GCDH:Val148Phe	PROT:Q92947	GCDH	V	148	F	V148F	Likely pathogenic	1	1	16	15
MUT:GCDH:Val224Gly	PROT:Q92947	GCDH	V	224	G	V224G	Pathogenic	1	1	16	16
MUT:GCDH:Val400Ala	PROT:Q92947	GCDH	V	400	A	V400A	Likely pathogenic	1	1	16	2
MUT:GCDH:Val400Met	PROT:Q92947	GCDH	V	400	M	V400M	Pathogenic	1	2	16	2
MUT:GCDH:Val410Met	PROT:Q92947	GCDH	V	410	M	V410M	Pathogenic/Likely pathogenic	1	1	16	12
MUT:GCDH:Val8Ala	PROT:Q92947	GCDH	V	8	A	V8A	Likely benign	0	1	16	24
MUT:GCH1:Arg184His	PROT:P30793	GCH1	R	184	H	R184H	Pathogenic	1	2	12	8
MUT:GCH1:Arg88Gly	PROT:P30793	GCH1	R	88	G	R88G	Likely pathogenic	1	1	12	5
MUT:GCH1:Arg88Leu	PROT:P30793	GCH1	R	88	L	R88L	Likely pathogenic	1	1	12	5
MUT:GCH1:Arg88Trp	PROT:P30793	GCH1	R	88	W	R88W	Pathogenic	1	1	12	5
MUT:GCH1:Asp134Val	PROT:P30793	GCH1	D	134	V	D134V	Pathogenic	1	1	12	5
MUT:GCH1:Gln182Lys	PROT:P30793	GCH1	Q	182	K	Q182K	Likely pathogenic	1	1	12	6
MUT:GCH1:Gly201Glu	PROT:P30793	GCH1	G	201	E	G201E	Pathogenic	1	1	12	25
MUT:GCH1:Gly203Arg	PROT:P30793	GCH1	G	203	R	G203R	Pathogenic	1	1	12	27
MUT:GCH1:His144Pro	PROT:P30793	GCH1	H	144	P	H144P	Pathogenic	1	1	12	5
MUT:GCH1:Ile135Lys	PROT:P30793	GCH1	I	135	K	I135K	Pathogenic	1	1	12	4
MUT:GCH1:Met1Ile	PROT:P30793	GCH1	M	1	I	M1I	Pathogenic	1	1	12	53
MUT:GCH1:Met211Ile	PROT:P30793	GCH1	M	211	I	M211I	Pathogenic	1	1	12	29
MUT:GCH1:Met211Thr	PROT:P30793	GCH1	M	211	T	M211T	Likely pathogenic	1	1	12	29
MUT:GCH1:Pro199Ala	PROT:P30793	GCH1	P	199	A	P199A	Pathogenic	1	1	12	23
MUT:GCH1:Ser223Gly	PROT:P30793	GCH1	S	223	G	S223G	Pathogenic	1	1	12	17
MUT:GCH1:Thr94Met	PROT:P30793	GCH1	T	94	M	T94M	Likely pathogenic	1	1	12	0
MUT:GCH1:Val205Glu	PROT:P30793	GCH1	V	205	E	V205E	Pathogenic	1	2	12	29
MUT:GCK:Ala11Thr	PROT:P35557	GCK	A	11	T	A11T	Benign	0	2	16	45
MUT:GCK:Ala188Thr	PROT:P35557	GCK	A	188	T	A188T	Pathogenic	1	3	16	16
MUT:GCK:Ala201Ser	PROT:P35557	GCK	A	201	S	A201S	Pathogenic	1	3	16	29
MUT:GCK:Ala208Pro	PROT:P35557	GCK	A	208	P	A208P	Likely pathogenic	1	1	16	36
MUT:GCK:Ala208Thr	PROT:P35557	GCK	A	208	T	A208T	Pathogenic	1	2	16	36
MUT:GCK:Ala208Val	PROT:P35557	GCK	A	208	V	A208V	Pathogenic	1	2	16	36
MUT:GCK:Ala232Asp	PROT:P35557	GCK	A	232	D	A232D	Pathogenic	1	1	16	60
MUT:GCK:Ala259Ser	PROT:P35557	GCK	A	259	S	A259S	Likely pathogenic	1	1	16	37
MUT:GCK:Ala259Thr	PROT:P35557	GCK	A	259	T	A259T	Pathogenic	1	2	16	37
MUT:GCK:Ala259Val	PROT:P35557	GCK	A	259	V	A259V	Pathogenic	1	2	16	37
MUT:GCK:Ala378Asp	PROT:P35557	GCK	A	378	D	A378D	Pathogenic	1	2	16	2
MUT:GCK:Ala378Gly	PROT:P35557	GCK	A	378	G	A378G	Likely pathogenic	1	2	16	2
MUT:GCK:Ala378Pro	PROT:P35557	GCK	A	378	P	A378P	Likely pathogenic	1	2	16	2
MUT:GCK:Ala378Thr	PROT:P35557	GCK	A	378	T	A378T	Pathogenic	1	2	16	2
MUT:GCK:Ala378Val	PROT:P35557	GCK	A	378	V	A378V	Pathogenic	1	2	16	2
MUT:GCK:Ala379Glu	PROT:P35557	GCK	A	379	E	A379E	Likely pathogenic	1	3	16	3
MUT:GCK:Ala379Gly	PROT:P35557	GCK	A	379	G	A379G	Likely pathogenic	1	1	16	3
MUT:GCK:Ala379Val	PROT:P35557	GCK	A	379	V	A379V	Likely pathogenic	1	1	16	3
MUT:GCK:Ala384Glu	PROT:P35557	GCK	A	384	E	A384E	Pathogenic	1	2	16	1
MUT:GCK:Ala384Thr	PROT:P35557	GCK	A	384	T	A384T	Likely pathogenic	1	3	16	1
MUT:GCK:Ala384Val	PROT:P35557	GCK	A	384	V	A384V	Likely pathogenic	1	3	16	1
MUT:GCK:Ala387Glu	PROT:P35557	GCK	A	387	E	A387E	Likely pathogenic	1	2	16	4
MUT:GCK:Ala387Thr	PROT:P35557	GCK	A	387	T	A387T	Pathogenic	1	1	16	4
MUT:GCK:Ala387Val	PROT:P35557	GCK	A	387	V	A387V	Pathogenic	1	2	16	4
MUT:GCK:Ala449Glu	PROT:P35557	GCK	A	449	E	A449E	Likely pathogenic	1	1	16	9
MUT:GCK:Ala449Ser	PROT:P35557	GCK	A	449	S	A449S	Likely pathogenic	1	1	16	9
MUT:GCK:Ala449Thr	PROT:P35557	GCK	A	449	T	A449T	Pathogenic	1	3	16	9
MUT:GCK:Ala450Ser	PROT:P35557	GCK	A	450	S	A450S	Likely pathogenic	1	2	16	8
MUT:GCK:Ala450Thr	PROT:P35557	GCK	A	450	T	A450T	Likely pathogenic	1	1	16	8
MUT:GCK:Ala450Val	PROT:P35557	GCK	A	450	V	A450V	Likely pathogenic	1	1	16	8
MUT:GCK:Ala454Glu	PROT:P35557	GCK	A	454	E	A454E	Likely pathogenic	1	2	16	4
MUT:GCK:Ala454Val	PROT:P35557	GCK	A	454	V	A454V	Likely pathogenic	1	1	16	4
MUT:GCK:Ala456Val	PROT:P35557	GCK	A	456	V	A456V	Pathogenic	1	1	16	2
MUT:GCK:Arg155Ser	PROT:P35557	GCK	R	155	S	R155S	Likely pathogenic	1	1	16	6
MUT:GCK:Arg155Thr	PROT:P35557	GCK	R	155	T	R155T	Likely pathogenic	1	2	16	6
MUT:GCK:Arg191Gln	PROT:P35557	GCK	R	191	Q	R191Q	Pathogenic	1	3	16	19
MUT:GCK:Arg191Trp	PROT:P35557	GCK	R	191	W	R191W	Pathogenic	1	4	16	19
MUT:GCK:Arg250Cys	PROT:P35557	GCK	R	250	C	R250C	Pathogenic	1	4	16	46
MUT:GCK:Arg250His	PROT:P35557	GCK	R	250	H	R250H	Likely pathogenic	1	1	16	46
MUT:GCK:Arg275Cys	PROT:P35557	GCK	R	275	C	R275C	Pathogenic	1	2	16	21
MUT:GCK:Arg275Gly	PROT:P35557	GCK	R	275	G	R275G	Pathogenic	1	1	16	21
MUT:GCK:Arg275Leu	PROT:P35557	GCK	R	275	L	R275L	Likely pathogenic	1	2	16	21
MUT:GCK:Arg275Pro	PROT:P35557	GCK	R	275	P	R275P	Likely pathogenic	1	1	16	21
MUT:GCK:Arg303Gln	PROT:P35557	GCK	R	303	Q	R303Q	Likely pathogenic	1	1	16	7
MUT:GCK:Arg303Trp	PROT:P35557	GCK	R	303	W	R303W	Likely pathogenic	1	2	16	7
MUT:GCK:Arg369Pro	PROT:P35557	GCK	R	369	P	R369P	Pathogenic	1	1	16	4
MUT:GCK:Arg36Trp	PROT:P35557	GCK	R	36	W	R36W	Pathogenic	1	4	16	20
MUT:GCK:Arg377Cys	PROT:P35557	GCK	R	377	C	R377C	Pathogenic	1	2	16	1
MUT:GCK:Arg377His	PROT:P35557	GCK	R	377	H	R377H	Likely pathogenic	1	3	16	1
MUT:GCK:Arg377Leu	PROT:P35557	GCK	R	377	L	R377L	Likely pathogenic	1	1	16	1
MUT:GCK:Arg377Ser	PROT:P35557	GCK	R	377	S	R377S	Likely pathogenic	1	2	16	1
MUT:GCK:Arg392Cys	PROT:P35557	GCK	R	392	C	R392C	Pathogenic	1	3	16	9
MUT:GCK:Arg392Gly	PROT:P35557	GCK	R	392	G	R392G	Likely pathogenic	1	2	16	9
MUT:GCK:Arg392Leu	PROT:P35557	GCK	R	392	L	R392L	Pathogenic	1	3	16	9
MUT:GCK:Arg392Pro	PROT:P35557	GCK	R	392	P	R392P	Likely pathogenic	1	1	16	9
MUT:GCK:Arg392Ser	PROT:P35557	GCK	R	392	S	R392S	Pathogenic	1	1	16	9
MUT:GCK:Arg394Leu	PROT:P35557	GCK	R	394	L	R394L	Likely pathogenic	1	1	16	11
MUT:GCK:Arg394Pro	PROT:P35557	GCK	R	394	P	R394P	Likely pathogenic	1	1	16	11
MUT:GCK:Arg394Ser	PROT:P35557	GCK	R	394	S	R394S	Likely pathogenic	1	1	16	11
MUT:GCK:Arg397Cys	PROT:P35557	GCK	R	397	C	R397C	Likely pathogenic	1	2	16	14
MUT:GCK:Arg397Gly	PROT:P35557	GCK	R	397	G	R397G	Likely pathogenic	1	1	16	14
MUT:GCK:Arg397His	PROT:P35557	GCK	R	397	H	R397H	Likely pathogenic	1	1	16	14
MUT:GCK:Arg397Leu	PROT:P35557	GCK	R	397	L	R397L	Pathogenic	1	2	16	14
MUT:GCK:Arg397Pro	PROT:P35557	GCK	R	397	P	R397P	Likely pathogenic	1	1	16	14
MUT:GCK:Arg429Lys	PROT:P35557	GCK	R	429	K	R429K	Likely benign	0	1	16	9
MUT:GCK:Arg43Cys	PROT:P35557	GCK	R	43	C	R43C	Pathogenic	1	4	16	13
MUT:GCK:Arg43His	PROT:P35557	GCK	R	43	H	R43H	Pathogenic	1	4	16	13
MUT:GCK:Arg447Gln	PROT:P35557	GCK	R	447	Q	R447Q	Pathogenic/Likely pathogenic	1	1	16	11
MUT:GCK:Arg447Gly	PROT:P35557	GCK	R	447	G	R447G	Pathogenic/Likely pathogenic	1	2	16	11
MUT:GCK:Arg447Pro	PROT:P35557	GCK	R	447	P	R447P	Likely pathogenic	1	1	16	11
MUT:GCK:Arg46Lys	PROT:P35557	GCK	R	46	K	R46K	Benign	0	1	16	10
MUT:GCK:Asn204Lys	PROT:P35557	GCK	N	204	K	N204K	Likely pathogenic	1	1	16	32
MUT:GCK:Asp124Asn	PROT:P35557	GCK	D	124	N	D124N	Pathogenic	1	4	16	22
MUT:GCK:Asp124His	PROT:P35557	GCK	D	124	H	D124H	Pathogenic	1	1	16	22
MUT:GCK:Asp160Asn	PROT:P35557	GCK	D	160	N	D160N	Pathogenic	1	4	16	1
MUT:GCK:Asp160Glu	PROT:P35557	GCK	D	160	E	D160E	Likely pathogenic	1	1	16	1
MUT:GCK:Asp160His	PROT:P35557	GCK	D	160	H	D160H	Pathogenic	1	2	16	1
MUT:GCK:Asp187His	PROT:P35557	GCK	D	187	H	D187H	Likely pathogenic	1	1	16	15
MUT:GCK:Asp187Tyr	PROT:P35557	GCK	D	187	Y	D187Y	Likely pathogenic	1	1	16	15
MUT:GCK:Asp205Gly	PROT:P35557	GCK	D	205	G	D205G	Likely pathogenic	1	1	16	33
MUT:GCK:Asp205Val	PROT:P35557	GCK	D	205	V	D205V	Likely pathogenic	1	1	16	33
MUT:GCK:Asp217Asn	PROT:P35557	GCK	D	217	N	D217N	Benign	0	6	16	45
MUT:GCK:Asp274Ala	PROT:P35557	GCK	D	274	A	D274A	Pathogenic	1	1	16	22
MUT:GCK:Asp274Asn	PROT:P35557	GCK	D	274	N	D274N	Likely pathogenic	1	1	16	22
MUT:GCK:Asp274Glu	PROT:P35557	GCK	D	274	E	D274E	Likely pathogenic	1	2	16	22
MUT:GCK:Asp274Gly	PROT:P35557	GCK	D	274	G	D274G	Likely pathogenic	1	1	16	22
MUT:GCK:Asp274Tyr	PROT:P35557	GCK	D	274	Y	D274Y	Likely pathogenic	1	1	16	22
MUT:GCK:Asp344Tyr	PROT:P35557	GCK	D	344	Y	D344Y	Likely pathogenic	1	3	16	29
MUT:GCK:Asp363Asn	PROT:P35557	GCK	D	363	N	D363N	Likely pathogenic	1	2	16	10
MUT:GCK:Asp363Gly	PROT:P35557	GCK	D	363	G	D363G	Pathogenic	1	1	16	10
MUT:GCK:Asp4Asn	PROT:P35557	GCK	D	4	N	D4N	Likely benign	0	5	16	52
MUT:GCK:Asp78Asn	PROT:P35557	GCK	D	78	N	D78N	Pathogenic	1	1	16	22
MUT:GCK:Asp78Gly	PROT:P35557	GCK	D	78	G	D78G	Likely pathogenic	1	1	16	22
MUT:GCK:Asp78His	PROT:P35557	GCK	D	78	H	D78H	Pathogenic	1	1	16	22
MUT:GCK:Asp78Tyr	PROT:P35557	GCK	D	78	Y	D78Y	Pathogenic	1	1	16	22
MUT:GCK:Cys129Tyr	PROT:P35557	GCK	C	129	Y	C129Y	Likely pathogenic	1	1	16	27
MUT:GCK:Cys220Arg	PROT:P35557	GCK	C	220	R	C220R	Likely pathogenic	1	2	16	48
MUT:GCK:Cys220Tyr	PROT:P35557	GCK	C	220	Y	C220Y	Pathogenic	1	3	16	48
MUT:GCK:Cys230Arg	PROT:P35557	GCK	C	230	R	C230R	Likely pathogenic	1	3	16	58
MUT:GCK:Cys230Tyr	PROT:P35557	GCK	C	230	Y	C230Y	Pathogenic	1	1	16	58
MUT:GCK:Cys371Arg	PROT:P35557	GCK	C	371	R	C371R	Likely pathogenic	1	1	16	2
MUT:GCK:Cys371Phe	PROT:P35557	GCK	C	371	F	C371F	Pathogenic	1	2	16	2
MUT:GCK:Cys371Trp	PROT:P35557	GCK	C	371	W	C371W	Likely pathogenic	1	1	16	2
MUT:GCK:Cys371Tyr	PROT:P35557	GCK	C	371	Y	C371Y	Likely pathogenic	1	1	16	2
MUT:GCK:Cys382Arg	PROT:P35557	GCK	C	382	R	C382R	Pathogenic	1	2	16	1
MUT:GCK:Cys382Gly	PROT:P35557	GCK	C	382	G	C382G	Likely pathogenic	1	1	16	1
MUT:GCK:Cys382Ser	PROT:P35557	GCK	C	382	S	C382S	Likely pathogenic	1	1	16	1
MUT:GCK:Cys382Tyr	PROT:P35557	GCK	C	382	Y	C382Y	Pathogenic	1	1	16	1
MUT:GCK:Gln106Pro	PROT:P35557	GCK	Q	106	P	Q106P	Likely pathogenic	1	1	16	4
MUT:GCK:Gln337Pro	PROT:P35557	GCK	Q	337	P	Q337P	Likely pathogenic	1	1	16	36
MUT:GCK:Gln38Leu	PROT:P35557	GCK	Q	38	L	Q38L	Likely pathogenic	1	1	16	18
MUT:GCK:Gln38Pro	PROT:P35557	GCK	Q	38	P	Q38P	Pathogenic	1	2	16	18
MUT:GCK:Glu157Lys	PROT:P35557	GCK	E	157	K	E157K	Pathogenic	1	3	16	4
MUT:GCK:Glu221Lys	PROT:P35557	GCK	E	221	K	E221K	Pathogenic	1	3	16	49
MUT:GCK:Glu236Lys	PROT:P35557	GCK	E	236	K	E236K	Pathogenic	1	1	16	60
MUT:GCK:Glu256Gln	PROT:P35557	GCK	E	256	Q	E256Q	Likely pathogenic	1	1	16	40
MUT:GCK:Glu256Lys	PROT:P35557	GCK	E	256	K	E256K	Pathogenic	1	3	16	40
MUT:GCK:Glu265Lys	PROT:P35557	GCK	E	265	K	E265K	Pathogenic	1	2	16	31
MUT:GCK:Glu268Lys	PROT:P35557	GCK	E	268	K	E268K	Pathogenic	1	3	16	28
MUT:GCK:Glu279Gln	PROT:P35557	GCK	E	279	Q	E279Q	Benign	0	2	16	17
MUT:GCK:Glu300Gln	PROT:P35557	GCK	E	300	Q	E300Q	Pathogenic	1	1	16	4
MUT:GCK:Glu300Gly	PROT:P35557	GCK	E	300	G	E300G	Likely pathogenic	1	2	16	4
MUT:GCK:Glu300Lys	PROT:P35557	GCK	E	300	K	E300K	Likely pathogenic	1	1	16	4
MUT:GCK:Glu339Gly	PROT:P35557	GCK	E	339	G	E339G	Pathogenic	1	1	16	34
MUT:GCK:Glu339Lys	PROT:P35557	GCK	E	339	K	E339K	Likely pathogenic	1	2	16	34
MUT:GCK:Glu40Lys	PROT:P35557	GCK	E	40	K	E40K	Pathogenic	1	2	16	16
MUT:GCK:Glu48Lys	PROT:P35557	GCK	E	48	K	E48K	Likely benign	0	2	16	8
MUT:GCK:Glu70Lys	PROT:P35557	GCK	E	70	K	E70K	Pathogenic/Likely pathogenic	1	2	16	14
MUT:GCK:Gly117Arg	PROT:P35557	GCK	G	117	R	G117R	Likely pathogenic	1	1	16	15
MUT:GCK:Gly117Val	PROT:P35557	GCK	G	117	V	G117V	Likely pathogenic	1	1	16	15
MUT:GCK:Gly170Val	PROT:P35557	GCK	G	170	V	G170V	Likely pathogenic	1	1	16	1
MUT:GCK:Gly175Arg	PROT:P35557	GCK	G	175	R	G175R	Pathogenic	1	2	16	3
MUT:GCK:Gly175Glu	PROT:P35557	GCK	G	175	E	G175E	Likely pathogenic	1	2	16	3
MUT:GCK:Gly178Ala	PROT:P35557	GCK	G	178	A	G178A	Likely pathogenic	1	1	16	6
MUT:GCK:Gly178Arg	PROT:P35557	GCK	G	178	R	G178R	Likely pathogenic	1	3	16	6
MUT:GCK:Gly178Glu	PROT:P35557	GCK	G	178	E	G178E	Pathogenic	1	2	16	6
MUT:GCK:Gly178Val	PROT:P35557	GCK	G	178	V	G178V	Likely pathogenic	1	1	16	6
MUT:GCK:Gly223Ser	PROT:P35557	GCK	G	223	S	G223S	Pathogenic	1	4	16	51
MUT:GCK:Gly227Arg	PROT:P35557	GCK	G	227	R	G227R	Pathogenic	1	3	16	55
MUT:GCK:Gly227Ser	PROT:P35557	GCK	G	227	S	G227S	Pathogenic	1	2	16	55
MUT:GCK:Gly246Ala	PROT:P35557	GCK	G	246	A	G246A	Likely pathogenic	1	2	16	50
MUT:GCK:Gly246Arg	PROT:P35557	GCK	G	246	R	G246R	Pathogenic	1	2	16	50
MUT:GCK:Gly246Glu	PROT:P35557	GCK	G	246	E	G246E	Likely pathogenic	1	1	16	50
MUT:GCK:Gly258Asp	PROT:P35557	GCK	G	258	D	G258D	Pathogenic	1	3	16	38
MUT:GCK:Gly258Cys	PROT:P35557	GCK	G	258	C	G258C	Pathogenic	1	1	16	38
MUT:GCK:Gly258Ser	PROT:P35557	GCK	G	258	S	G258S	Pathogenic	1	2	16	38
MUT:GCK:Gly261Arg	PROT:P35557	GCK	G	261	R	G261R	Pathogenic	1	4	16	35
MUT:GCK:Gly261Glu	PROT:P35557	GCK	G	261	E	G261E	Pathogenic	1	1	16	35
MUT:GCK:Gly264Asp	PROT:P35557	GCK	G	264	D	G264D	Pathogenic	1	1	16	32
MUT:GCK:Gly264Ser	PROT:P35557	GCK	G	264	S	G264S	Pathogenic	1	3	16	32
MUT:GCK:Gly294Asp	PROT:P35557	GCK	G	294	D	G294D	Pathogenic	1	1	16	2
MUT:GCK:Gly294Val	PROT:P35557	GCK	G	294	V	G294V	Likely pathogenic	1	1	16	2
MUT:GCK:Gly295Asp	PROT:P35557	GCK	G	295	D	G295D	Likely pathogenic	1	2	16	1
MUT:GCK:Gly295Ser	PROT:P35557	GCK	G	295	S	G295S	Likely pathogenic	1	2	16	1
MUT:GCK:Gly295Val	PROT:P35557	GCK	G	295	V	G295V	Likely pathogenic	1	1	16	1
MUT:GCK:Gly299Arg	PROT:P35557	GCK	G	299	R	G299R	Pathogenic/Likely pathogenic	1	1	16	3
MUT:GCK:Gly318Arg	PROT:P35557	GCK	G	318	R	G318R	Pathogenic	1	4	16	22
MUT:GCK:Gly385Arg	PROT:P35557	GCK	G	385	R	G385R	Likely pathogenic	1	3	16	2
MUT:GCK:Gly385Trp	PROT:P35557	GCK	G	385	W	G385W	Likely pathogenic	1	1	16	2
MUT:GCK:Gly385Val	PROT:P35557	GCK	G	385	V	G385V	Likely pathogenic	1	1	16	2
MUT:GCK:Gly388Asp	PROT:P35557	GCK	G	388	D	G388D	Pathogenic	1	2	16	5
MUT:GCK:Gly410Arg	PROT:P35557	GCK	G	410	R	G410R	Pathogenic	1	1	16	1
MUT:GCK:Gly410Asp	PROT:P35557	GCK	G	410	D	G410D	Pathogenic	1	2	16	1
MUT:GCK:Gly410Cys	PROT:P35557	GCK	G	410	C	G410C	Pathogenic	1	1	16	1
MUT:GCK:Gly410Ser	PROT:P35557	GCK	G	410	S	G410S	Pathogenic	1	1	16	1
MUT:GCK:Gly44Asp	PROT:P35557	GCK	G	44	D	G44D	Likely pathogenic	1	1	16	12
MUT:GCK:Gly44Ser	PROT:P35557	GCK	G	44	S	G44S	Pathogenic/Likely pathogenic	1	2	16	12
MUT:GCK:Gly68Asp	PROT:P35557	GCK	G	68	D	G68D	Likely benign	0	2	16	12
MUT:GCK:Gly72Arg	PROT:P35557	GCK	G	72	R	G72R	Pathogenic	1	3	16	16
MUT:GCK:Gly81Asp	PROT:P35557	GCK	G	81	D	G81D	Likely pathogenic	1	1	16	19
MUT:GCK:His137Arg	PROT:P35557	GCK	H	137	R	H137R	Likely pathogenic	1	1	16	24
MUT:GCK:His137Asp	PROT:P35557	GCK	H	137	D	H137D	Likely pathogenic	1	1	16	24
MUT:GCK:His156Tyr	PROT:P35557	GCK	H	156	Y	H156Y	Likely pathogenic	1	2	16	5
MUT:GCK:His317Gln	PROT:P35557	GCK	H	317	Q	H317Q	Likely pathogenic	1	2	16	21
MUT:GCK:His380Pro	PROT:P35557	GCK	H	380	P	H380P	Pathogenic	1	3	16	3
MUT:GCK:His416Arg	PROT:P35557	GCK	H	416	R	H416R	Pathogenic	1	2	16	2
MUT:GCK:His416Asp	PROT:P35557	GCK	H	416	D	H416D	Likely pathogenic	1	1	16	2
MUT:GCK:His416Gln	PROT:P35557	GCK	H	416	Q	H416Q	Likely pathogenic	1	1	16	2
MUT:GCK:His416Pro	PROT:P35557	GCK	H	416	P	H416P	Likely pathogenic	1	2	16	2
MUT:GCK:His416Tyr	PROT:P35557	GCK	H	416	Y	H416Y	Likely pathogenic	1	1	16	2
MUT:GCK:His424Tyr	PROT:P35557	GCK	H	424	Y	H424Y	Likely pathogenic	1	3	16	4
MUT:GCK:His50Tyr	PROT:P35557	GCK	H	50	Y	H50Y	Pathogenic/Likely pathogenic	1	2	16	6
MUT:GCK:Ile130Asn	PROT:P35557	GCK	I	130	N	I130N	Likely pathogenic	1	1	16	28
MUT:GCK:Ile130Thr	PROT:P35557	GCK	I	130	T	I130T	Likely pathogenic	1	1	16	28
MUT:GCK:Ile159Val	PROT:P35557	GCK	I	159	V	I159V	Pathogenic/Likely pathogenic	1	2	16	2
MUT:GCK:Ile189Met	PROT:P35557	GCK	I	189	M	I189M	Likely pathogenic	1	2	16	17
MUT:GCK:Ile189Thr	PROT:P35557	GCK	I	189	T	I189T	Pathogenic	1	4	16	17
MUT:GCK:Ile19Asn	PROT:P35557	GCK	I	19	N	I19N	Pathogenic	1	1	16	37
MUT:GCK:Ile19Met	PROT:P35557	GCK	I	19	M	I19M	Likely pathogenic	1	1	16	37
MUT:GCK:Ile293Arg	PROT:P35557	GCK	I	293	R	I293R	Pathogenic/Likely pathogenic	1	1	16	3
MUT:GCK:Ile348Phe	PROT:P35557	GCK	I	348	F	I348F	Likely pathogenic	1	2	16	25
MUT:GCK:Ile436Asn	PROT:P35557	GCK	I	436	N	I436N	Pathogenic	1	2	16	16
MUT:GCK:Ile436Phe	PROT:P35557	GCK	I	436	F	I436F	Likely pathogenic	1	1	16	16
MUT:GCK:Leu122Ile	PROT:P35557	GCK	L	122	I	L122I	Likely pathogenic	1	3	16	20
MUT:GCK:Leu122Phe	PROT:P35557	GCK	L	122	F	L122F	Likely pathogenic	1	1	16	20
MUT:GCK:Leu122Pro	PROT:P35557	GCK	L	122	P	L122P	Likely pathogenic	1	1	16	20
MUT:GCK:Leu122Val	PROT:P35557	GCK	L	122	V	L122V	Likely pathogenic	1	1	16	20
MUT:GCK:Leu146Arg	PROT:P35557	GCK	L	146	R	L146R	Likely pathogenic	1	1	16	15
MUT:GCK:Leu146Pro	PROT:P35557	GCK	L	146	P	L146P	Pathogenic	1	1	16	15
MUT:GCK:Leu164Pro	PROT:P35557	GCK	L	164	P	L164P	Pathogenic/Likely pathogenic	1	2	16	3
MUT:GCK:Leu165Phe	PROT:P35557	GCK	L	165	F	L165F	Likely pathogenic	1	1	16	4
MUT:GCK:Leu185Pro	PROT:P35557	GCK	L	185	P	L185P	Likely pathogenic	1	1	16	13
MUT:GCK:Leu25Pro	PROT:P35557	GCK	L	25	P	L25P	Likely pathogenic	1	1	16	31
MUT:GCK:Leu271Pro	PROT:P35557	GCK	L	271	P	L271P	Likely pathogenic	1	3	16	25
MUT:GCK:Leu304Pro	PROT:P35557	GCK	L	304	P	L304P	Pathogenic	1	3	16	8
MUT:GCK:Leu306Gln	PROT:P35557	GCK	L	306	Q	L306Q	Likely pathogenic	1	1	16	10
MUT:GCK:Leu30Pro	PROT:P35557	GCK	L	30	P	L30P	Likely pathogenic	1	2	16	26
MUT:GCK:Leu314Pro	PROT:P35557	GCK	L	314	P	L314P	Likely pathogenic	1	3	16	18
MUT:GCK:Leu315His	PROT:P35557	GCK	L	315	H	L315H	Pathogenic	1	1	16	19
MUT:GCK:Leu324Pro	PROT:P35557	GCK	L	324	P	L324P	Pathogenic/Likely pathogenic	1	1	16	28
MUT:GCK:Leu352Arg	PROT:P35557	GCK	L	352	R	L352R	Likely pathogenic	1	1	16	21
MUT:GCK:Leu352Pro	PROT:P35557	GCK	L	352	P	L352P	Likely pathogenic	1	1	16	21
MUT:GCK:Leu386Arg	PROT:P35557	GCK	L	386	R	L386R	Likely pathogenic	1	1	16	3
MUT:GCK:Leu386Pro	PROT:P35557	GCK	L	386	P	L386P	Pathogenic	1	3	16	3
MUT:GCK:Leu386Val	PROT:P35557	GCK	L	386	V	L386V	Pathogenic	1	2	16	3
MUT:GCK:Leu77Pro	PROT:P35557	GCK	L	77	P	L77P	Likely pathogenic	1	1	16	21
MUT:GCK:Lys161Arg	PROT:P35557	GCK	K	161	R	K161R	Likely pathogenic	1	1	16	0
MUT:GCK:Lys414Glu	PROT:P35557	GCK	K	414	E	K414E	Pathogenic	1	4	16	0
MUT:GCK:Lys414Met	PROT:P35557	GCK	K	414	M	K414M	Likely pathogenic	1	1	16	0
MUT:GCK:Lys420Asn	PROT:P35557	GCK	K	420	N	K420N	Likely pathogenic	1	1	16	0
MUT:GCK:Lys56Thr	PROT:P35557	GCK	K	56	T	K56T	Likely pathogenic	1	1	16	0
MUT:GCK:Lys90Thr	PROT:P35557	GCK	K	90	T	K90T	Likely pathogenic	1	1	16	10
MUT:GCK:Met197Lys	PROT:P35557	GCK	M	197	K	M197K	Likely pathogenic	1	1	16	25
MUT:GCK:Met1Leu	PROT:P35557	GCK	M	1	L	M1L	Likely benign	0	1	16	55
MUT:GCK:Met202Arg	PROT:P35557	GCK	M	202	R	M202R	Pathogenic	1	1	16	30
MUT:GCK:Met202Thr	PROT:P35557	GCK	M	202	T	M202T	Pathogenic	1	1	16	30
MUT:GCK:Met210Ile	PROT:P35557	GCK	M	210	I	M210I	Pathogenic	1	3	16	38
MUT:GCK:Met210Lys	PROT:P35557	GCK	M	210	K	M210K	Pathogenic	1	4	16	38
MUT:GCK:Met210Thr	PROT:P35557	GCK	M	210	T	M210T	Pathogenic	1	2	16	38
MUT:GCK:Met210Val	PROT:P35557	GCK	M	210	V	M210V	Likely pathogenic	1	1	16	38
MUT:GCK:Met224Thr	PROT:P35557	GCK	M	224	T	M224T	Pathogenic	1	3	16	52
MUT:GCK:Met235Arg	PROT:P35557	GCK	M	235	R	M235R	Likely pathogenic	1	1	16	61
MUT:GCK:Met235Thr	PROT:P35557	GCK	M	235	T	M235T	Pathogenic	1	2	16	61
MUT:GCK:Met235Val	PROT:P35557	GCK	M	235	V	M235V	Pathogenic	1	1	16	61
MUT:GCK:Met251Ile	PROT:P35557	GCK	M	251	I	M251I	Pathogenic/Likely pathogenic	1	1	16	45
MUT:GCK:Met251Lys	PROT:P35557	GCK	M	251	K	M251K	Likely pathogenic	1	1	16	45
MUT:GCK:Met251Thr	PROT:P35557	GCK	M	251	T	M251T	Likely pathogenic	1	1	16	45
MUT:GCK:Met251Val	PROT:P35557	GCK	M	251	V	M251V	Pathogenic	1	1	16	45
MUT:GCK:Met37Arg	PROT:P35557	GCK	M	37	R	M37R	Pathogenic	1	1	16	19
MUT:GCK:Met37Thr	PROT:P35557	GCK	M	37	T	M37T	Likely pathogenic	1	1	16	19
MUT:GCK:Met37Val	PROT:P35557	GCK	M	37	V	M37V	Likely pathogenic	1	1	16	19
MUT:GCK:Met381Arg	PROT:P35557	GCK	M	381	R	M381R	Likely pathogenic	1	1	16	2
MUT:GCK:Met381Lys	PROT:P35557	GCK	M	381	K	M381K	Likely pathogenic	1	1	16	2
MUT:GCK:Met381Thr	PROT:P35557	GCK	M	381	T	M381T	Pathogenic	1	1	16	2
MUT:GCK:Met41Arg	PROT:P35557	GCK	M	41	R	M41R	Likely pathogenic	1	1	16	15
MUT:GCK:Met462Ile	PROT:P35557	GCK	M	462	I	M462I	Likely benign	0	6	16	4
MUT:GCK:Met57Arg	PROT:P35557	GCK	M	57	R	M57R	Likely pathogenic	1	1	16	1
MUT:GCK:Met57Ile	PROT:P35557	GCK	M	57	I	M57I	Likely pathogenic	1	2	16	1
MUT:GCK:Met57Lys	PROT:P35557	GCK	M	57	K	M57K	Likely pathogenic	1	1	16	1
MUT:GCK:Met57Thr	PROT:P35557	GCK	M	57	T	M57T	Likely pathogenic	1	1	16	1
MUT:GCK:Phe150Leu	PROT:P35557	GCK	F	150	L	F150L	Likely pathogenic	1	1	16	11
MUT:GCK:Phe150Ser	PROT:P35557	GCK	F	150	S	F150S	Pathogenic	1	2	16	11
MUT:GCK:Phe150Tyr	PROT:P35557	GCK	F	150	Y	F150Y	Pathogenic	1	1	16	11
MUT:GCK:Phe152Ile	PROT:P35557	GCK	F	152	I	F152I	Pathogenic	1	1	16	9
MUT:GCK:Phe152Leu	PROT:P35557	GCK	F	152	L	F152L	Pathogenic	1	2	16	9
MUT:GCK:Phe152Ser	PROT:P35557	GCK	F	152	S	F152S	Pathogenic	1	2	16	9
MUT:GCK:Phe260Ser	PROT:P35557	GCK	F	260	S	F260S	Likely pathogenic	1	2	16	36
MUT:GCK:Phe330Ser	PROT:P35557	GCK	F	330	S	F330S	Likely pathogenic	1	2	16	34
MUT:GCK:Phe419Ser	PROT:P35557	GCK	F	419	S	F419S	Likely pathogenic	1	1	16	1
MUT:GCK:Phe423Tyr	PROT:P35557	GCK	F	423	Y	F423Y	Pathogenic	1	3	16	3
MUT:GCK:Pro153His	PROT:P35557	GCK	P	153	H	P153H	Pathogenic	1	2	16	8
MUT:GCK:Pro153Ser	PROT:P35557	GCK	P	153	S	P153S	Pathogenic	1	3	16	8
MUT:GCK:Pro59Ser	PROT:P35557	GCK	P	59	S	P59S	Pathogenic/Likely pathogenic	1	1	16	3
MUT:GCK:Ser131Pro	PROT:P35557	GCK	S	131	P	S131P	Likely pathogenic	1	5	16	29
MUT:GCK:Ser151Pro	PROT:P35557	GCK	S	151	P	S151P	Likely pathogenic	1	1	16	10
MUT:GCK:Ser174Leu	PROT:P35557	GCK	S	174	L	S174L	Pathogenic	1	2	16	2
MUT:GCK:Ser263Pro	PROT:P35557	GCK	S	263	P	S263P	Pathogenic	1	5	16	33
MUT:GCK:Ser340Asn	PROT:P35557	GCK	S	340	N	S340N	Pathogenic	1	2	16	33
MUT:GCK:Ser340Thr	PROT:P35557	GCK	S	340	T	S340T	Pathogenic	1	2	16	33
MUT:GCK:Ser360Trp	PROT:P35557	GCK	S	360	W	S360W	Likely pathogenic	1	1	16	13
MUT:GCK:Ser373Thr	PROT:P35557	GCK	S	373	T	S373T	Likely pathogenic	1	1	16	0
MUT:GCK:Ser375Phe	PROT:P35557	GCK	S	375	F	S375F	Likely pathogenic	1	3	16	0
MUT:GCK:Ser383Leu	PROT:P35557	GCK	S	383	L	S383L	Pathogenic	1	2	16	0
MUT:GCK:Ser383Pro	PROT:P35557	GCK	S	383	P	S383P	Likely pathogenic	1	1	16	0
MUT:GCK:Ser383Thr	PROT:P35557	GCK	S	383	T	S383T	Likely pathogenic	1	1	16	0
MUT:GCK:Ser383Trp	PROT:P35557	GCK	S	383	W	S383W	Likely pathogenic	1	1	16	0
MUT:GCK:Ser411Phe	PROT:P35557	GCK	S	411	F	S411F	Likely pathogenic	1	1	16	0
MUT:GCK:Ser441Trp	PROT:P35557	GCK	S	441	W	S441W	Pathogenic	1	3	16	17
MUT:GCK:Ser453Leu	PROT:P35557	GCK	S	453	L	S453L	Pathogenic/Likely pathogenic	1	2	16	5
MUT:GCK:Ser453Trp	PROT:P35557	GCK	S	453	W	S453W	Pathogenic/Likely pathogenic	1	1	16	5
MUT:GCK:Ser54Arg	PROT:P35557	GCK	S	54	R	S54R	Likely pathogenic	1	1	16	2
MUT:GCK:Thr168Ala	PROT:P35557	GCK	T	168	A	T168A	Pathogenic	1	1	16	1
MUT:GCK:Thr168Asn	PROT:P35557	GCK	T	168	N	T168N	Pathogenic	1	1	16	1
MUT:GCK:Thr168Ile	PROT:P35557	GCK	T	168	I	T168I	Pathogenic	1	1	16	1
MUT:GCK:Thr168Pro	PROT:P35557	GCK	T	168	P	T168P	Pathogenic	1	1	16	1
MUT:GCK:Thr206Met	PROT:P35557	GCK	T	206	M	T206M	Pathogenic/Likely pathogenic	1	2	16	34
MUT:GCK:Thr206Pro	PROT:P35557	GCK	T	206	P	T206P	Pathogenic/Likely pathogenic	1	3	16	34
MUT:GCK:Thr209Ala	PROT:P35557	GCK	T	209	A	T209A	Likely pathogenic	1	1	16	37
MUT:GCK:Thr209Arg	PROT:P35557	GCK	T	209	R	T209R	Likely pathogenic	1	1	16	37
MUT:GCK:Thr209Met	PROT:P35557	GCK	T	209	M	T209M	Pathogenic	1	2	16	37
MUT:GCK:Thr228Ala	PROT:P35557	GCK	T	228	A	T228A	Pathogenic	1	2	16	56
MUT:GCK:Thr228Arg	PROT:P35557	GCK	T	228	R	T228R	Pathogenic	1	1	16	56
MUT:GCK:Thr228Lys	PROT:P35557	GCK	T	228	K	T228K	Pathogenic	1	1	16	56
MUT:GCK:Thr228Met	PROT:P35557	GCK	T	228	M	T228M	Pathogenic	1	7	16	56
MUT:GCK:Thr255Ala	PROT:P35557	GCK	T	255	A	T255A	Pathogenic	1	1	16	41
MUT:GCK:Thr255Ile	PROT:P35557	GCK	T	255	I	T255I	Pathogenic	1	1	16	41
MUT:GCK:Thr255Ser	PROT:P35557	GCK	T	255	S	T255S	Pathogenic	1	1	16	41
MUT:GCK:Thr326Pro	PROT:P35557	GCK	T	326	P	T326P	Pathogenic	1	1	16	30
MUT:GCK:Thr332Met	PROT:P35557	GCK	T	332	M	T332M	Likely pathogenic	1	1	16	36
MUT:GCK:Thr342Pro	PROT:P35557	GCK	T	342	P	T342P	Benign	0	5	16	31
MUT:GCK:Thr437Ile	PROT:P35557	GCK	T	437	I	T437I	Likely pathogenic	1	1	16	17
MUT:GCK:Thr49Asn	PROT:P35557	GCK	T	49	N	T49N	Likely pathogenic	1	2	16	7
MUT:GCK:Thr60Ile	PROT:P35557	GCK	T	60	I	T60I	Pathogenic	1	2	16	4
MUT:GCK:Thr82Ile	PROT:P35557	GCK	T	82	I	T82I	Likely pathogenic	1	1	16	18
MUT:GCK:Trp257Arg	PROT:P35557	GCK	W	257	R	W257R	Pathogenic/Likely pathogenic	1	1	16	39
MUT:GCK:Tyr108His	PROT:P35557	GCK	Y	108	H	Y108H	Pathogenic	1	1	16	6
MUT:GCK:Tyr214Cys	PROT:P35557	GCK	Y	214	C	Y214C	Pathogenic	1	1	16	42
MUT:GCK:Tyr289Cys	PROT:P35557	GCK	Y	289	C	Y289C	Pathogenic/Likely pathogenic	1	1	16	7
MUT:GCK:Val154Gly	PROT:P35557	GCK	V	154	G	V154G	Likely pathogenic	1	1	16	7
MUT:GCK:Val182Met	PROT:P35557	GCK	V	182	M	V182M	Pathogenic	1	4	16	10
MUT:GCK:Val203Ala	PROT:P35557	GCK	V	203	A	V203A	Pathogenic	1	2	16	31
MUT:GCK:Val226Ala	PROT:P35557	GCK	V	226	A	V226A	Likely pathogenic	1	3	16	54
MUT:GCK:Val226Gly	PROT:P35557	GCK	V	226	G	V226G	Likely pathogenic	1	1	16	54
MUT:GCK:Val226Met	PROT:P35557	GCK	V	226	M	V226M	Pathogenic	1	4	16	54
MUT:GCK:Val244Gly	PROT:P35557	GCK	V	244	G	V244G	Pathogenic/Likely pathogenic	1	2	16	52
MUT:GCK:Val253Leu	PROT:P35557	GCK	V	253	L	V253L	Likely pathogenic	1	1	16	43
MUT:GCK:Val277Gly	PROT:P35557	GCK	V	277	G	V277G	Likely pathogenic	1	2	16	19
MUT:GCK:Val33Ala	PROT:P35557	GCK	V	33	A	V33A	Likely pathogenic	1	2	16	23
MUT:GCK:Val367Met	PROT:P35557	GCK	V	367	M	V367M	Pathogenic	1	2	16	6
MUT:GCK:Val374Glu	PROT:P35557	GCK	V	374	E	V374E	Likely pathogenic	1	1	16	1
MUT:GCK:Val374Met	PROT:P35557	GCK	V	374	M	V374M	Likely pathogenic	1	2	16	1
MUT:GCK:Val389Ala	PROT:P35557	GCK	V	389	A	V389A	Likely pathogenic	1	1	16	6
MUT:GCK:Val389Asp	PROT:P35557	GCK	V	389	D	V389D	Likely pathogenic	1	1	16	6
MUT:GCK:Val389Leu	PROT:P35557	GCK	V	389	L	V389L	Pathogenic	1	1	16	6
MUT:GCK:Val412Ala	PROT:P35557	GCK	V	412	A	V412A	Pathogenic	1	1	16	1
MUT:GCK:Val412Glu	PROT:P35557	GCK	V	412	E	V412E	Pathogenic	1	1	16	1
MUT:GCK:Val412Gly	PROT:P35557	GCK	V	412	G	V412G	Pathogenic	1	2	16	1
MUT:GCK:Val412Met	PROT:P35557	GCK	V	412	M	V412M	Pathogenic	1	1	16	1
MUT:GCK:Val452Leu	PROT:P35557	GCK	V	452	L	V452L	Likely pathogenic	1	1	16	6
MUT:GCK:Val455Glu	PROT:P35557	GCK	V	455	E	V455E	Likely pathogenic	1	3	16	3
MUT:GCK:Val455Met	PROT:P35557	GCK	V	455	M	V455M	Pathogenic	1	1	16	3
MUT:GCK:Val62Ala	PROT:P35557	GCK	V	62	A	V62A	Pathogenic	1	1	16	6
MUT:GCK:Val62Met	PROT:P35557	GCK	V	62	M	V62M	Pathogenic	1	2	16	6
MUT:GCK:Val91Leu	PROT:P35557	GCK	V	91	L	V91L	Pathogenic	1	1	16	9
MUT:GCLC:His370Leu	PROT:P48506	GCLC	H	370	L	H370L	Pathogenic	1	1	10	25
MUT:GCLC:Pro158Leu	PROT:P48506	GCLC	P	158	L	P158L	Pathogenic	1	1	10	3
MUT:GDF5:Ala117Ser	PROT:P43026	GDF5	A	117	S	A117S	Benign/Likely benign	0	5	6	105
MUT:GDF5:Arg318Pro	PROT:P43026	GDF5	R	318	P	R318P	Benign/Likely benign	0	5	6	76
MUT:GDF5:Arg334Gly	PROT:P43026	GDF5	R	334	G	R334G	Benign/Likely benign	0	6	6	60
MUT:GDF5:Arg378Gln	PROT:P43026	GDF5	R	378	Q	R378Q	Pathogenic	1	1	6	16
MUT:GDF5:Arg380Gln	PROT:P43026	GDF5	R	380	Q	R380Q	Pathogenic/Likely pathogenic	1	2	6	14
MUT:GDF5:Arg399Cys	PROT:P43026	GDF5	R	399	C	R399C	Pathogenic	1	1	6	2
MUT:GDF5:Arg438Leu	PROT:P43026	GDF5	R	438	L	R438L	Pathogenic	1	2	6	34
MUT:GDF5:Cys400Tyr	PROT:P43026	GDF5	C	400	Y	C400Y	Likely pathogenic	1	2	6	3
MUT:GDF5:Cys466Tyr	PROT:P43026	GDF5	C	466	Y	C466Y	Likely pathogenic	1	1	6	6
MUT:GDF5:Gln376His	PROT:P43026	GDF5	Q	376	H	Q376H	Benign	0	5	6	18
MUT:GDF5:Glu491Lys	PROT:P43026	GDF5	E	491	K	E491K	Pathogenic	1	2	6	16
MUT:GDF5:Leu373Arg	PROT:P43026	GDF5	L	373	R	L373R	Pathogenic	1	1	6	21
MUT:GDF5:Leu441Pro	PROT:P43026	GDF5	L	441	P	L441P	Pathogenic	1	3	6	31
MUT:GDF5:Met173Val	PROT:P43026	GDF5	M	173	V	M173V	Pathogenic	1	1	6	49
MUT:GDF5:Pro154Ser	PROT:P43026	GDF5	P	154	S	P154S	Likely benign	0	1	6	68
MUT:GDF5:Pro166His	PROT:P43026	GDF5	P	166	H	P166H	Benign	0	5	6	56
MUT:GDF5:Pro436Thr	PROT:P43026	GDF5	P	436	T	P436T	Pathogenic	1	1	6	36
MUT:GDF5:Ser475Asn	PROT:P43026	GDF5	S	475	N	S475N	Pathogenic	1	1	6	0
MUT:GDF6:Ala319Thr	PROT:Q6KF10	GDF6	A	319	T	A319T	Likely benign	0	1	2	178
MUT:GDF6:Arg234Leu	PROT:Q6KF10	GDF6	R	234	L	R234L	Benign	0	1	2	93
MUT:GDF6:Gln119Arg	PROT:Q6KF10	GDF6	Q	119	R	Q119R	Benign/Likely benign	0	1	2	22
MUT:GDF6:Gln273Lys	PROT:Q6KF10	GDF6	Q	273	K	Q273K	Benign/Likely benign	0	1	2	132
MUT:GDF6:Glu292Asp	PROT:Q6KF10	GDF6	E	292	D	E292D	Pathogenic	1	1	2	151
MUT:GDF6:Gly42Val	PROT:Q6KF10	GDF6	G	42	V	G42V	Likely benign	0	1	2	16
MUT:GDF6:Pro327His	PROT:Q6KF10	GDF6	P	327	H	P327H	Benign	0	1	2	186
MUT:GDF6:Thr423Asn	PROT:Q6KF10	GDF6	T	423	N	T423N	Likely benign	0	1	2	282
MUT:GDF6:Tyr444Asn	PROT:Q6KF10	GDF6	Y	444	N	Y444N	Pathogenic	1	1	2	303
MUT:GDF9:Arg316Cys	PROT:O60383	GDF9	R	316	C	R316C	Likely pathogenic	1	1	4	9
MUT:GDF9:Asp57Tyr	PROT:O60383	GDF9	D	57	Y	D57Y	Benign	0	1	4	128
MUT:GDF9:Pro374Leu	PROT:O60383	GDF9	P	374	L	P374L	Pathogenic	1	1	4	49
MUT:GEMIN4:Ala579Gly	PROT:P57678	GEMIN4	A	579	G	A579G	Benign	0	1	8	82
MUT:GEMIN4:Arg1033Cys	PROT:P57678	GEMIN4	R	1033	C	R1033C	Benign	0	1	8	9
MUT:GEMIN4:Arg325Gln	PROT:P57678	GEMIN4	R	325	Q	R325Q	Likely benign	0	5	8	24
MUT:GEMIN4:Arg684Gln	PROT:P57678	GEMIN4	R	684	Q	R684Q	Benign	0	1	8	32
MUT:GEMIN4:Asn571Ser	PROT:P57678	GEMIN4	N	571	S	N571S	Likely benign	0	1	8	74
MUT:GEMIN4:Asp929Asn	PROT:P57678	GEMIN4	D	929	N	D929N	Benign	0	1	8	95
MUT:GEMIN4:Gln450Glu	PROT:P57678	GEMIN4	Q	450	E	Q450E	Benign	0	1	8	36
MUT:GEMIN4:Glu593Val	PROT:P57678	GEMIN4	E	593	V	E593V	Benign	0	1	8	96
MUT:GEMIN4:Ile739Thr	PROT:P57678	GEMIN4	I	739	T	I739T	Benign	0	2	8	23
MUT:GEMIN4:Phe182Leu	PROT:P57678	GEMIN4	F	182	L	F182L	Benign	0	1	8	23
MUT:GEMIN4:Phe782Leu	PROT:P57678	GEMIN4	F	782	L	F782L	Benign	0	1	8	66
MUT:GEMIN4:Pro105Leu	PROT:P57678	GEMIN4	P	105	L	P105L	Pathogenic	1	1	8	69
MUT:GEMIN4:Ser153Thr	PROT:P57678	GEMIN4	S	153	T	S153T	Likely benign	0	1	8	52
MUT:GEMIN4:Thr390Met	PROT:P57678	GEMIN4	T	390	M	T390M	Likely benign	0	1	8	24
MUT:GEMIN4:Thr529Ser	PROT:P57678	GEMIN4	T	529	S	T529S	Likely benign	0	2	8	32
MUT:GEMIN4:Trp818Arg	PROT:P57678	GEMIN4	W	818	R	W818R	Pathogenic/Likely pathogenic	1	1	8	102
MUT:GEMIN4:Val47Met	PROT:P57678	GEMIN4	V	47	M	V47M	Likely benign	0	1	8	11
MUT:GEMIN5:Ala955Thr	PROT:Q8TEQ6	GEMIN5	A	955	T	A955T	Likely benign	0	1	35	22
MUT:GEMIN5:Arg1229Gln	PROT:Q8TEQ6	GEMIN5	R	1229	Q	R1229Q	Likely benign	0	1	35	42
MUT:GEMIN5:Arg1351Gln	PROT:Q8TEQ6	GEMIN5	R	1351	Q	R1351Q	Likely benign	0	1	35	10
MUT:GEMIN5:Arg1500Lys	PROT:Q8TEQ6	GEMIN5	R	1500	K	R1500K	Likely benign	0	1	35	75
MUT:GEMIN5:Arg66Lys	PROT:Q8TEQ6	GEMIN5	R	66	K	R66K	Likely benign	0	1	35	15
MUT:GEMIN5:Arg671Gln	PROT:Q8TEQ6	GEMIN5	R	671	Q	R671Q	Likely benign	0	1	35	47
MUT:GEMIN5:Arg787Gln	PROT:Q8TEQ6	GEMIN5	R	787	Q	R787Q	Likely benign	0	1	35	9
MUT:GEMIN5:Asn294Asp	PROT:Q8TEQ6	GEMIN5	N	294	D	N294D	Likely benign	0	1	35	119
MUT:GEMIN5:Asp1256Asn	PROT:Q8TEQ6	GEMIN5	D	1256	N	D1256N	Likely benign	0	1	35	64
MUT:GEMIN5:His913Arg	PROT:Q8TEQ6	GEMIN5	H	913	R	H913R	Pathogenic	1	1	35	2
MUT:GEMIN5:His923Pro	PROT:Q8TEQ6	GEMIN5	H	923	P	H923P	Likely pathogenic	1	1	35	10
MUT:GEMIN5:Ile1452Val	PROT:Q8TEQ6	GEMIN5	I	1452	V	I1452V	Likely benign	0	1	35	27
MUT:GEMIN5:Ile988Phe	PROT:Q8TEQ6	GEMIN5	I	988	F	I988F	Likely pathogenic	1	3	35	24
MUT:GEMIN5:Leu1068Pro	PROT:Q8TEQ6	GEMIN5	L	1068	P	L1068P	Pathogenic	1	1	35	56
MUT:GEMIN5:Leu1119Ser	PROT:Q8TEQ6	GEMIN5	L	1119	S	L1119S	Pathogenic	1	1	35	63
MUT:GEMIN5:Leu1367Pro	PROT:Q8TEQ6	GEMIN5	L	1367	P	L1367P	Likely pathogenic	1	2	35	1
MUT:GEMIN5:Lys835Arg	PROT:Q8TEQ6	GEMIN5	K	835	R	K835R	Likely benign	0	1	35	3
MUT:GEMIN5:Ser1000Pro	PROT:Q8TEQ6	GEMIN5	S	1000	P	S1000P	Pathogenic	1	1	35	12
MUT:GEMIN5:Trp1029Arg	PROT:Q8TEQ6	GEMIN5	W	1029	R	W1029R	Likely pathogenic	1	1	35	17
MUT:GEMIN5:Tyr1286Asn	PROT:Q8TEQ6	GEMIN5	Y	1286	N	Y1286N	Pathogenic	1	1	35	34
MUT:GEMIN5:Val1032Ile	PROT:Q8TEQ6	GEMIN5	V	1032	I	V1032I	Likely benign	0	1	35	20
MUT:GEMIN5:Val1078Ile	PROT:Q8TEQ6	GEMIN5	V	1078	I	V1078I	Likely benign	0	1	35	66
MUT:GEMIN5:Val1466Ile	PROT:Q8TEQ6	GEMIN5	V	1466	I	V1466I	Likely benign	0	1	35	41
MUT:GEN1:Arg302His	PROT:Q17RS7	GEN1	R	302	H	R302H	Likely benign	0	1	18	33
MUT:GEN1:Arg898Cys	PROT:Q17RS7	GEN1	R	898	C	R898C	Benign/Likely benign	0	1	18	5
MUT:GEN1:Asn143Ser	PROT:Q17RS7	GEN1	N	143	S	N143S	Benign	0	2	18	39
MUT:GEN1:Ile203Val	PROT:Q17RS7	GEN1	I	203	V	I203V	Benign	0	1	18	54
MUT:GEN1:Lys882Glu	PROT:Q17RS7	GEN1	K	882	E	K882E	Benign	0	1	18	0
MUT:GEN1:Ser189Asn	PROT:Q17RS7	GEN1	S	189	N	S189N	Benign	0	1	18	68
MUT:GEN1:Ser310Asn	PROT:Q17RS7	GEN1	S	310	N	S310N	Benign	0	1	18	41
MUT:GEN1:Ser509Trp	PROT:Q17RS7	GEN1	S	509	W	S509W	Likely benign	0	1	18	48
MUT:GEN1:Ser873Arg	PROT:Q17RS7	GEN1	S	873	R	S873R	Benign/Likely benign	0	2	18	9
MUT:GEN1:Ser92Thr	PROT:Q17RS7	GEN1	S	92	T	S92T	Benign	0	1	18	4
MUT:GEN1:Thr680Ile	PROT:Q17RS7	GEN1	T	680	I	T680I	Benign	0	1	18	1
MUT:GET3:Val163Ala	PROT:O43681	GET3	V	163	A	V163A	Pathogenic	1	1	10	100
MUT:GFER:Arg194His	PROT:P55789	GFER	R	194	H	R194H	Pathogenic	1	1	3	4
MUT:GFER:Asp192Gly	PROT:P55789	GFER	D	192	G	D192G	Pathogenic	1	1	3	2
MUT:GFER:Asp76Tyr	PROT:P55789	GFER	D	76	Y	D76Y	Likely pathogenic	1	1	3	2
MUT:GFI1:Arg28His	PROT:Q99684	GFI1	R	28	H	R28H	Likely benign	0	1	5	28
MUT:GFI1:Asn382Ser	PROT:Q99684	GFI1	N	382	S	N382S	Pathogenic	1	1	5	9
MUT:GFI1:Glu240Gln	PROT:Q99684	GFI1	E	240	Q	E240Q	Benign/Likely benign	0	2	5	113
MUT:GFI1:Leu400Phe	PROT:Q99684	GFI1	L	400	F	L400F	Benign/Likely benign	0	1	5	9
MUT:GFI1:Pro107Ala	PROT:Q99684	GFI1	P	107	A	P107A	Likely benign	0	3	5	51
MUT:GFI1:Ser36Asn	PROT:Q99684	GFI1	S	36	N	S36N	Benign/Likely benign	0	1	5	20
MUT:GFI1B:Arg120Gln	PROT:Q5VTD9	GFI1B	R	120	Q	R120Q	Likely benign	0	1	3	36
MUT:GFI1B:Arg184Pro	PROT:Q5VTD9	GFI1B	R	184	P	R184P	Likely pathogenic	1	1	3	28
MUT:GFI1B:Arg231Leu	PROT:Q5VTD9	GFI1B	R	231	L	R231L	Pathogenic	1	1	3	2
MUT:GFI1B:Asp23Asn	PROT:Q5VTD9	GFI1B	D	23	N	D23N	Benign	0	1	3	133
MUT:GFI1B:Asp262Asn	PROT:Q5VTD9	GFI1B	D	262	N	D262N	Pathogenic	1	1	3	1
MUT:GFI1B:Asp97Asn	PROT:Q5VTD9	GFI1B	D	97	N	D97N	Benign	0	1	3	59
MUT:GFI1B:Ile196Val	PROT:Q5VTD9	GFI1B	I	196	V	I196V	Likely benign	0	1	3	37
MUT:GFI1B:Phe50Leu	PROT:Q5VTD9	GFI1B	F	50	L	F50L	Benign	0	1	3	106
MUT:GFI1B:Pro33Leu	PROT:Q5VTD9	GFI1B	P	33	L	P33L	Likely benign	0	1	3	123
MUT:GFI1B:Ser261Cys	PROT:Q5VTD9	GFI1B	S	261	C	S261C	Likely benign	0	1	3	0
MUT:GFI1B:Thr174Ala	PROT:Q5VTD9	GFI1B	T	174	A	T174A	Pathogenic	1	1	3	18
MUT:GFI1B:Thr174Ile	PROT:Q5VTD9	GFI1B	T	174	I	T174I	Likely pathogenic	1	1	3	18
MUT:GFI1B:Val34Met	PROT:Q5VTD9	GFI1B	V	34	M	V34M	Benign	0	1	3	122
MUT:GFM1:Ala524Val	PROT:Q96RP9	GFM1	A	524	V	A524V	Pathogenic	1	1	15	27
MUT:GFM1:Ala74Ser	PROT:Q96RP9	GFM1	A	74	S	A74S	Likely benign	0	2	15	5
MUT:GFM1:Arg250Trp	PROT:Q96RP9	GFM1	R	250	W	R250W	Pathogenic/Likely pathogenic	1	2	15	25
MUT:GFM1:Arg25Gly	PROT:Q96RP9	GFM1	R	25	G	R25G	Likely benign	0	1	15	43
MUT:GFM1:Arg608Gln	PROT:Q96RP9	GFM1	R	608	Q	R608Q	Pathogenic/Likely pathogenic	1	1	15	42
MUT:GFM1:Arg671Cys	PROT:Q96RP9	GFM1	R	671	C	R671C	Pathogenic/Likely pathogenic	1	1	15	105
MUT:GFM1:Asn159Ser	PROT:Q96RP9	GFM1	N	159	S	N159S	Benign	0	1	15	6
MUT:GFM1:Asn174Ser	PROT:Q96RP9	GFM1	N	174	S	N174S	Likely pathogenic	1	1	15	1
MUT:GFM1:Asn349Ser	PROT:Q96RP9	GFM1	N	349	S	N349S	Likely benign	0	1	15	31
MUT:GFM1:Asn43Asp	PROT:Q96RP9	GFM1	N	43	D	N43D	Benign/Likely benign	0	1	15	25
MUT:GFM1:Cys516Arg	PROT:Q96RP9	GFM1	C	516	R	C516R	Pathogenic	1	1	15	35
MUT:GFM1:Gln263Arg	PROT:Q96RP9	GFM1	Q	263	R	Q263R	Benign/Likely benign	0	2	15	12
MUT:GFM1:Glu132Ala	PROT:Q96RP9	GFM1	E	132	A	E132A	Likely pathogenic	1	1	15	33
MUT:GFM1:Gly230Ser	PROT:Q96RP9	GFM1	G	230	S	G230S	Pathogenic/Likely pathogenic	1	2	15	45
MUT:GFM1:Lys26Arg	PROT:Q96RP9	GFM1	K	26	R	K26R	Benign	0	1	15	42
MUT:GFM1:Lys304Glu	PROT:Q96RP9	GFM1	K	304	E	K304E	Likely pathogenic	1	1	15	11
MUT:GFM1:Met190Leu	PROT:Q96RP9	GFM1	M	190	L	M190L	Benign/Likely benign	0	1	15	15
MUT:GFM1:Met1Ile	PROT:Q96RP9	GFM1	M	1	I	M1I	Pathogenic	1	1	15	67
MUT:GFM1:Met496Arg	PROT:Q96RP9	GFM1	M	496	R	M496R	Likely pathogenic	1	1	15	55
MUT:GFM1:Val137Met	PROT:Q96RP9	GFM1	V	137	M	V137M	Likely pathogenic	1	1	15	28
MUT:GFM1:Val215Ile	PROT:Q96RP9	GFM1	V	215	I	V215I	Benign	0	1	15	40
MUT:GFM1:Val664Ile	PROT:Q96RP9	GFM1	V	664	I	V664I	Benign/Likely benign	0	1	15	98
MUT:GFPT1:Arg111Cys	PROT:Q06210	GFPT1	R	111	C	R111C	Pathogenic/Likely pathogenic	1	2	27	3
MUT:GFPT1:Arg111His	PROT:Q06210	GFPT1	R	111	H	R111H	Pathogenic/Likely pathogenic	1	2	27	3
MUT:GFPT1:Arg14Gln	PROT:Q06210	GFPT1	R	14	Q	R14Q	Pathogenic/Likely pathogenic	1	1	27	11
MUT:GFPT1:Arg14Leu	PROT:Q06210	GFPT1	R	14	L	R14L	Pathogenic	1	1	27	11
MUT:GFPT1:Asp366Tyr	PROT:Q06210	GFPT1	D	366	Y	D366Y	Pathogenic	1	1	27	1
MUT:GFPT1:Asp602Gly	PROT:Q06210	GFPT1	D	602	G	D602G	Likely pathogenic	1	1	27	38
MUT:GFPT1:Lys133Arg	PROT:Q06210	GFPT1	K	133	R	K133R	Likely pathogenic	1	1	27	18
MUT:GFPT1:Met1Arg	PROT:Q06210	GFPT1	M	1	R	M1R	Pathogenic	1	1	27	24
MUT:GFPT1:Met509Thr	PROT:Q06210	GFPT1	M	509	T	M509T	Likely pathogenic	1	1	27	27
MUT:GFPT1:Thr151Lys	PROT:Q06210	GFPT1	T	151	K	T151K	Pathogenic	1	1	27	0
MUT:GFPT1:Thr15Met	PROT:Q06210	GFPT1	T	15	M	T15M	Pathogenic	1	2	27	10
MUT:GFRA1:Arg217Gln	PROT:P56159	GFRA1	R	217	Q	R217Q	Likely benign	0	1	1	34
MUT:GFRA1:Asp14Ala	PROT:P56159	GFRA1	D	14	A	D14A	Benign	0	1	1	169
MUT:GFRA1:Thr252Met	PROT:P56159	GFRA1	T	252	M	T252M	Likely benign	0	1	1	69
MUT:GFRA1:Thr366Ala	PROT:P56159	GFRA1	T	366	A	T366A	Benign	0	1	1	183
MUT:GFRA1:Tyr85Asn	PROT:P56159	GFRA1	Y	85	N	Y85N	Benign	0	1	1	98
MUT:GGCX:Arg325Gln	PROT:P38435	GGCX	R	325	Q	R325Q	Benign/Likely benign	0	1	13	7
MUT:GGCX:Arg476Cys	PROT:P38435	GGCX	R	476	C	R476C	Pathogenic	1	1	13	39
MUT:GGCX:Arg476Gly	PROT:P38435	GGCX	R	476	G	R476G	Likely pathogenic	1	1	13	39
MUT:GGCX:Arg476His	PROT:P38435	GGCX	R	476	H	R476H	Pathogenic	1	1	13	39
MUT:GGCX:Arg485Pro	PROT:P38435	GGCX	R	485	P	R485P	Pathogenic	1	1	13	30
MUT:GGCX:Arg513Lys	PROT:P38435	GGCX	R	513	K	R513K	Pathogenic	1	1	13	2
MUT:GGCX:Arg683His	PROT:P38435	GGCX	R	683	H	R683H	Likely benign	0	1	13	105
MUT:GGCX:Asp31Asn	PROT:P38435	GGCX	D	31	N	D31N	Benign	0	1	13	10
MUT:GGCX:Gly258Asp	PROT:P38435	GGCX	G	258	D	G258D	Likely pathogenic	1	1	13	43
MUT:GGCX:Gly558Arg	PROT:P38435	GGCX	G	558	R	G558R	Pathogenic	1	1	13	20
MUT:GGCX:Leu394Arg	PROT:P38435	GGCX	L	394	R	L394R	Pathogenic	1	1	13	48
MUT:GGCX:Phe299Ser	PROT:P38435	GGCX	F	299	S	F299S	Pathogenic	1	1	13	2
MUT:GGCX:Pro428Ser	PROT:P38435	GGCX	P	428	S	P428S	Likely pathogenic	1	1	13	82
MUT:GGCX:Pro484Ser	PROT:P38435	GGCX	P	484	S	P484S	Likely pathogenic	1	1	13	31
MUT:GGCX:Thr739Met	PROT:P38435	GGCX	T	739	M	T739M	Likely benign	0	1	13	161
MUT:GGCX:Trp157Arg	PROT:P38435	GGCX	W	157	R	W157R	Pathogenic/Likely pathogenic	1	1	13	66
MUT:GGCX:Trp493Ser	PROT:P38435	GGCX	W	493	S	W493S	Pathogenic	1	1	13	22
MUT:GGCX:Trp501Ser	PROT:P38435	GGCX	W	501	S	W501S	Pathogenic	1	1	13	14
MUT:GGCX:Val255Met	PROT:P38435	GGCX	V	255	M	V255M	Pathogenic/Likely pathogenic	1	2	13	46
MUT:GGCX:Val460Ile	PROT:P38435	GGCX	V	460	I	V460I	Likely benign	0	1	13	55
MUT:GGN:Asp491Asn	PROT:Q86UU5	GGN	D	491	N	D491N	Likely benign	0	1	3	231
MUT:GGPS1:Arg261Gly	PROT:O95749	GGPS1	R	261	G	R261G	Pathogenic	1	1	12	4
MUT:GGPS1:Phe257Cys	PROT:O95749	GGPS1	F	257	C	F257C	Likely pathogenic	1	1	12	8
MUT:GGPS1:Tyr259Cys	PROT:O95749	GGPS1	Y	259	C	Y259C	Pathogenic	1	1	12	6
MUT:GGPS1:Val285Gly	PROT:O95749	GGPS1	V	285	G	V285G	Pathogenic	1	1	12	20
MUT:GH1:Ala39Val	PROT:P01241	GH1	A	39	V	A39V	Benign/Likely benign	0	2	9	29
MUT:GH1:Ala60Thr	PROT:P01241	GH1	A	60	T	A60T	Likely pathogenic	1	1	9	8
MUT:GH1:Arg103Cys	PROT:P01241	GH1	R	103	C	R103C	Pathogenic	1	1	9	6
MUT:GH1:Arg209His	PROT:P01241	GH1	R	209	H	R209H	Pathogenic	1	1	9	33
MUT:GH1:Asp138Gly	PROT:P01241	GH1	D	138	G	D138G	Pathogenic	1	1	9	3
MUT:GH1:Cys79Ser	PROT:P01241	GH1	C	79	S	C79S	Pathogenic	1	1	9	2
MUT:GH1:Glu58Ala	PROT:P01241	GH1	E	58	A	E58A	Pathogenic	1	1	9	10
MUT:GH1:Glu58Lys	PROT:P01241	GH1	E	58	K	E58K	Pathogenic/Likely pathogenic	1	2	9	10
MUT:GH1:Glu59Gly	PROT:P01241	GH1	E	59	G	E59G	Pathogenic	1	1	9	9
MUT:GH1:His177Arg	PROT:P01241	GH1	H	177	R	H177R	Likely benign	0	1	9	1
MUT:GH1:His44Pro	PROT:P01241	GH1	H	44	P	H44P	Likely pathogenic	1	1	9	24
MUT:GH1:Lys64Glu	PROT:P01241	GH1	K	64	E	K64E	Likely benign	0	1	9	4
MUT:GH1:Phe51Tyr	PROT:P01241	GH1	F	51	Y	F51Y	Benign/Likely benign	0	3	9	17
MUT:GH1:Pro85Leu	PROT:P01241	GH1	P	85	L	P85L	Likely pathogenic	1	1	9	8
MUT:GH1:Ser121Arg	PROT:P01241	GH1	S	121	R	S121R	Benign/Likely benign	0	1	9	11
MUT:GH1:Thr3Ala	PROT:P01241	GH1	T	3	A	T3A	Benign/Likely benign	0	1	9	65
MUT:GH1:Trp112Arg	PROT:P01241	GH1	W	112	R	W112R	Likely pathogenic	1	1	9	15
MUT:GHSR:Leu91Phe	PROT:Q92847	GHSR	L	91	F	L91F	Benign	0	1	1	161
MUT:GIMAP5:Ile47Thr	PROT:Q96F15	GIMAP5	I	47	T	I47T	Pathogenic/Likely pathogenic	1	2	12	1
MUT:GIMAP5:Leu149Val	PROT:Q96F15	GIMAP5	L	149	V	L149V	Likely benign	0	1	12	14
MUT:GIMAP5:Leu223Phe	PROT:Q96F15	GIMAP5	L	223	F	L223F	Pathogenic/Likely pathogenic	1	2	12	6
MUT:GIMAP5:Pro109Leu	PROT:Q96F15	GIMAP5	P	109	L	P109L	Pathogenic/Likely pathogenic	1	2	12	26
MUT:GINS3:Asp24Asn	PROT:Q9BRX5	GINS3	D	24	N	D24N	Pathogenic	1	1	7	41
MUT:GINS3:Asp24Gly	PROT:Q9BRX5	GINS3	D	24	G	D24G	Pathogenic	1	1	7	41
MUT:GJB1:Ala39Val	PROT:P08034	GJB1	A	39	V	A39V	Pathogenic/Likely pathogenic	1	2	18	64
MUT:GJB1:Ala40Ser	PROT:P08034	GJB1	A	40	S	A40S	Likely pathogenic	1	1	18	63
MUT:GJB1:Ala40Val	PROT:P08034	GJB1	A	40	V	A40V	Pathogenic	1	2	18	63
MUT:GJB1:Ala96Gly	PROT:P08034	GJB1	A	96	G	A96G	Pathogenic/Likely pathogenic	1	2	18	7
MUT:GJB1:Ala96Pro	PROT:P08034	GJB1	A	96	P	A96P	Pathogenic	1	2	18	7
MUT:GJB1:Arg107Trp	PROT:P08034	GJB1	R	107	W	R107W	Pathogenic	1	2	18	3
MUT:GJB1:Arg142Gln	PROT:P08034	GJB1	R	142	Q	R142Q	Pathogenic/Likely pathogenic	1	3	18	18
MUT:GJB1:Arg142Trp	PROT:P08034	GJB1	R	142	W	R142W	Pathogenic	1	2	18	18
MUT:GJB1:Arg15Gln	PROT:P08034	GJB1	R	15	Q	R15Q	Pathogenic	1	2	18	88
MUT:GJB1:Arg15Pro	PROT:P08034	GJB1	R	15	P	R15P	Likely pathogenic	1	1	18	88
MUT:GJB1:Arg15Trp	PROT:P08034	GJB1	R	15	W	R15W	Pathogenic	1	3	18	88
MUT:GJB1:Arg164Gln	PROT:P08034	GJB1	R	164	Q	R164Q	Pathogenic/Likely pathogenic	1	4	18	40
MUT:GJB1:Arg164Leu	PROT:P08034	GJB1	R	164	L	R164L	Likely pathogenic	1	1	18	40
MUT:GJB1:Arg164Trp	PROT:P08034	GJB1	R	164	W	R164W	Pathogenic/Likely pathogenic	1	2	18	40
MUT:GJB1:Arg183Cys	PROT:P08034	GJB1	R	183	C	R183C	Pathogenic/Likely pathogenic	1	3	18	42
MUT:GJB1:Arg183His	PROT:P08034	GJB1	R	183	H	R183H	Pathogenic	1	3	18	42
MUT:GJB1:Arg183Pro	PROT:P08034	GJB1	R	183	P	R183P	Likely pathogenic	1	2	18	42
MUT:GJB1:Arg215Pro	PROT:P08034	GJB1	R	215	P	R215P	Pathogenic/Likely pathogenic	1	2	18	10
MUT:GJB1:Arg215Trp	PROT:P08034	GJB1	R	215	W	R215W	Pathogenic/Likely pathogenic	1	3	18	10
MUT:GJB1:Arg224His	PROT:P08034	GJB1	R	224	H	R224H	Benign/Likely benign	0	3	18	1
MUT:GJB1:Arg22Gln	PROT:P08034	GJB1	R	22	Q	R22Q	Pathogenic/Likely pathogenic	1	3	18	81
MUT:GJB1:Arg32Lys	PROT:P08034	GJB1	R	32	K	R32K	Pathogenic	1	1	18	71
MUT:GJB1:Arg75Gln	PROT:P08034	GJB1	R	75	Q	R75Q	Pathogenic	1	3	18	28
MUT:GJB1:Arg75Trp	PROT:P08034	GJB1	R	75	W	R75W	Pathogenic/Likely pathogenic	1	3	18	28
MUT:GJB1:Asn14Lys	PROT:P08034	GJB1	N	14	K	N14K	Likely pathogenic	1	2	18	89
MUT:GJB1:Asn205Ser	PROT:P08034	GJB1	N	205	S	N205S	Pathogenic/Likely pathogenic	1	2	18	20
MUT:GJB1:Asn2Lys	PROT:P08034	GJB1	N	2	K	N2K	Likely pathogenic	1	1	18	101
MUT:GJB1:Asn54His	PROT:P08034	GJB1	N	54	H	N54H	Likely pathogenic	1	1	18	49
MUT:GJB1:Asp178Asn	PROT:P08034	GJB1	D	178	N	D178N	Pathogenic	1	1	18	47
MUT:GJB1:Asp46Gly	PROT:P08034	GJB1	D	46	G	D46G	Likely pathogenic	1	2	18	57
MUT:GJB1:Cys173Phe	PROT:P08034	GJB1	C	173	F	C173F	Pathogenic	1	2	18	49
MUT:GJB1:Cys179Tyr	PROT:P08034	GJB1	C	179	Y	C179Y	Likely pathogenic	1	2	18	46
MUT:GJB1:Cys201Tyr	PROT:P08034	GJB1	C	201	Y	C201Y	Likely pathogenic	1	2	18	24
MUT:GJB1:Cys60Arg	PROT:P08034	GJB1	C	60	R	C60R	Pathogenic/Likely pathogenic	1	1	18	43
MUT:GJB1:Cys60Tyr	PROT:P08034	GJB1	C	60	Y	C60Y	Likely pathogenic	1	3	18	43
MUT:GJB1:Cys64Arg	PROT:P08034	GJB1	C	64	R	C64R	Likely pathogenic	1	1	18	39
MUT:GJB1:Cys64Ser	PROT:P08034	GJB1	C	64	S	C64S	Pathogenic	1	2	18	39
MUT:GJB1:Cys64Tyr	PROT:P08034	GJB1	C	64	Y	C64Y	Pathogenic	1	2	18	39
MUT:GJB1:Glu102Gly	PROT:P08034	GJB1	E	102	G	E102G	Pathogenic	1	3	18	1
MUT:GJB1:Glu186Lys	PROT:P08034	GJB1	E	186	K	E186K	Pathogenic/Likely pathogenic	1	3	18	39
MUT:GJB1:Glu208Lys	PROT:P08034	GJB1	E	208	K	E208K	Pathogenic	1	2	18	17
MUT:GJB1:Glu41Gly	PROT:P08034	GJB1	E	41	G	E41G	Pathogenic	1	1	18	62
MUT:GJB1:Gly12Asp	PROT:P08034	GJB1	G	12	D	G12D	Pathogenic	1	1	18	91
MUT:GJB1:Gly12Ser	PROT:P08034	GJB1	G	12	S	G12S	Likely pathogenic	1	2	18	91
MUT:GJB1:Gly159Ser	PROT:P08034	GJB1	G	159	S	G159S	Pathogenic	1	3	18	35
MUT:GJB1:His100Gln	PROT:P08034	GJB1	H	100	Q	H100Q	Likely pathogenic	1	2	18	3
MUT:GJB1:His100Tyr	PROT:P08034	GJB1	H	100	Y	H100Y	Pathogenic	1	2	18	3
MUT:GJB1:His16Asp	PROT:P08034	GJB1	H	16	D	H16D	Pathogenic/Likely pathogenic	1	1	18	87
MUT:GJB1:His16Leu	PROT:P08034	GJB1	H	16	L	H16L	Pathogenic	1	2	18	87
MUT:GJB1:His16Pro	PROT:P08034	GJB1	H	16	P	H16P	Likely pathogenic	1	2	18	87
MUT:GJB1:His94Arg	PROT:P08034	GJB1	H	94	R	H94R	Pathogenic	1	2	18	9
MUT:GJB1:His94Asp	PROT:P08034	GJB1	H	94	D	H94D	Likely pathogenic	1	2	18	9
MUT:GJB1:His94Gln	PROT:P08034	GJB1	H	94	Q	H94Q	Pathogenic/Likely pathogenic	1	2	18	9
MUT:GJB1:His94Tyr	PROT:P08034	GJB1	H	94	Y	H94Y	Likely pathogenic	1	2	18	9
MUT:GJB1:Ile127Leu	PROT:P08034	GJB1	I	127	L	I127L	Likely pathogenic	1	1	18	3
MUT:GJB1:Ile127Met	PROT:P08034	GJB1	I	127	M	I127M	Pathogenic	1	1	18	3
MUT:GJB1:Ile20Phe	PROT:P08034	GJB1	I	20	F	I20F	Pathogenic	1	1	18	83
MUT:GJB1:Ile20Thr	PROT:P08034	GJB1	I	20	T	I20T	Pathogenic	1	1	18	83
MUT:GJB1:Ile30Asn	PROT:P08034	GJB1	I	30	N	I30N	Pathogenic	1	1	18	73
MUT:GJB1:Ile30Met	PROT:P08034	GJB1	I	30	M	I30M	Pathogenic	1	1	18	73
MUT:GJB1:Ile30Phe	PROT:P08034	GJB1	I	30	F	I30F	Pathogenic	1	1	18	73
MUT:GJB1:Ile30Thr	PROT:P08034	GJB1	I	30	T	I30T	Pathogenic	1	3	18	73
MUT:GJB1:Ile71Asn	PROT:P08034	GJB1	I	71	N	I71N	Likely pathogenic	1	1	18	32
MUT:GJB1:Ile71Thr	PROT:P08034	GJB1	I	71	T	I71T	Likely pathogenic	1	1	18	32
MUT:GJB1:Leu108Pro	PROT:P08034	GJB1	L	108	P	L108P	Likely pathogenic	1	2	18	4
MUT:GJB1:Leu131Pro	PROT:P08034	GJB1	L	131	P	L131P	Likely pathogenic	1	3	18	7
MUT:GJB1:Leu156Arg	PROT:P08034	GJB1	L	156	R	L156R	Pathogenic/Likely pathogenic	1	3	18	32
MUT:GJB1:Leu156His	PROT:P08034	GJB1	L	156	H	L156H	Likely pathogenic	1	1	18	32
MUT:GJB1:Leu165Gln	PROT:P08034	GJB1	L	165	Q	L165Q	Pathogenic	1	1	18	41
MUT:GJB1:Leu204Val	PROT:P08034	GJB1	L	204	V	L204V	Pathogenic/Likely pathogenic	1	2	18	21
MUT:GJB1:Leu81Phe	PROT:P08034	GJB1	L	81	F	L81F	Pathogenic	1	2	18	22
MUT:GJB1:Leu89Pro	PROT:P08034	GJB1	L	89	P	L89P	Pathogenic	1	2	18	14
MUT:GJB1:Leu89Val	PROT:P08034	GJB1	L	89	V	L89V	Pathogenic/Likely pathogenic	1	1	18	14
MUT:GJB1:Leu90Pro	PROT:P08034	GJB1	L	90	P	L90P	Likely pathogenic	1	1	18	13
MUT:GJB1:Lys103Glu	PROT:P08034	GJB1	K	103	E	K103E	Likely pathogenic	1	2	18	0
MUT:GJB1:Lys104Ile	PROT:P08034	GJB1	K	104	I	K104I	Likely pathogenic	1	1	18	0
MUT:GJB1:Lys124Asn	PROT:P08034	GJB1	K	124	N	K124N	Likely pathogenic	1	2	18	0
MUT:GJB1:Met194Val	PROT:P08034	GJB1	M	194	V	M194V	Pathogenic/Likely pathogenic	1	2	18	31
MUT:GJB1:Met1Lys	PROT:P08034	GJB1	M	1	K	M1K	Pathogenic	1	1	18	102
MUT:GJB1:Met1Thr	PROT:P08034	GJB1	M	1	T	M1T	Pathogenic	1	1	18	102
MUT:GJB1:Met1Val	PROT:P08034	GJB1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	18	102
MUT:GJB1:Met34Ile	PROT:P08034	GJB1	M	34	I	M34I	Likely pathogenic	1	1	18	69
MUT:GJB1:Met34Thr	PROT:P08034	GJB1	M	34	T	M34T	Pathogenic	1	3	18	69
MUT:GJB1:Met34Val	PROT:P08034	GJB1	M	34	V	M34V	Pathogenic	1	2	18	69
MUT:GJB1:Met93Val	PROT:P08034	GJB1	M	93	V	M93V	Pathogenic	1	2	18	10
MUT:GJB1:Phe141Leu	PROT:P08034	GJB1	F	141	L	F141L	Likely pathogenic	1	2	18	17
MUT:GJB1:Phe145Cys	PROT:P08034	GJB1	F	145	C	F145C	Pathogenic	1	1	18	21
MUT:GJB1:Phe149Ile	PROT:P08034	GJB1	F	149	I	F149I	Likely pathogenic	1	2	18	25
MUT:GJB1:Phe149Leu	PROT:P08034	GJB1	F	149	L	F149L	Likely pathogenic	1	1	18	25
MUT:GJB1:Phe180Leu	PROT:P08034	GJB1	F	180	L	F180L	Pathogenic/Likely pathogenic	1	3	18	45
MUT:GJB1:Phe51Leu	PROT:P08034	GJB1	F	51	L	F51L	Pathogenic/Likely pathogenic	1	1	18	52
MUT:GJB1:Phe69Leu	PROT:P08034	GJB1	F	69	L	F69L	Pathogenic	1	2	18	34
MUT:GJB1:Pro172Ala	PROT:P08034	GJB1	P	172	A	P172A	Pathogenic/Likely pathogenic	1	3	18	48
MUT:GJB1:Pro172Leu	PROT:P08034	GJB1	P	172	L	P172L	Pathogenic	1	2	18	48
MUT:GJB1:Pro172Ser	PROT:P08034	GJB1	P	172	S	P172S	Pathogenic/Likely pathogenic	1	2	18	48
MUT:GJB1:Pro174Ala	PROT:P08034	GJB1	P	174	A	P174A	Likely pathogenic	1	1	18	50
MUT:GJB1:Pro58Leu	PROT:P08034	GJB1	P	58	L	P58L	Likely pathogenic	1	1	18	45
MUT:GJB1:Pro58Ser	PROT:P08034	GJB1	P	58	S	P58S	Pathogenic	1	1	18	45
MUT:GJB1:Pro87Ala	PROT:P08034	GJB1	P	87	A	P87A	Pathogenic	1	2	18	16
MUT:GJB1:Pro87Arg	PROT:P08034	GJB1	P	87	R	P87R	Pathogenic/Likely pathogenic	1	1	18	16
MUT:GJB1:Pro87Leu	PROT:P08034	GJB1	P	87	L	P87L	Pathogenic	1	1	18	16
MUT:GJB1:Ser138Arg	PROT:P08034	GJB1	S	138	R	S138R	Likely pathogenic	1	1	18	14
MUT:GJB1:Ser138Thr	PROT:P08034	GJB1	S	138	T	S138T	Likely pathogenic	1	1	18	14
MUT:GJB1:Ser17Cys	PROT:P08034	GJB1	S	17	C	S17C	Likely pathogenic	1	1	18	86
MUT:GJB1:Ser182Thr	PROT:P08034	GJB1	S	182	T	S182T	Pathogenic	1	2	18	43
MUT:GJB1:Ser198Ala	PROT:P08034	GJB1	S	198	A	S198A	Likely pathogenic	1	2	18	27
MUT:GJB1:Ser198Phe	PROT:P08034	GJB1	S	198	F	S198F	Likely pathogenic	1	2	18	27
MUT:GJB1:Ser26Leu	PROT:P08034	GJB1	S	26	L	S26L	Pathogenic	1	2	18	77
MUT:GJB1:Ser26Trp	PROT:P08034	GJB1	S	26	W	S26W	Pathogenic	1	2	18	77
MUT:GJB1:Ser42Cys	PROT:P08034	GJB1	S	42	C	S42C	Likely pathogenic	1	2	18	61
MUT:GJB1:Ser85Cys	PROT:P08034	GJB1	S	85	C	S85C	Pathogenic	1	2	18	18
MUT:GJB1:Ser85Phe	PROT:P08034	GJB1	S	85	F	S85F	Likely pathogenic	1	2	18	18
MUT:GJB1:Ser85Pro	PROT:P08034	GJB1	S	85	P	S85P	Pathogenic	1	1	18	18
MUT:GJB1:Thr18Ser	PROT:P08034	GJB1	T	18	S	T18S	Likely pathogenic	1	2	18	85
MUT:GJB1:Thr55Ala	PROT:P08034	GJB1	T	55	A	T55A	Likely pathogenic	1	3	18	48
MUT:GJB1:Thr55Ile	PROT:P08034	GJB1	T	55	I	T55I	Pathogenic/Likely pathogenic	1	3	18	48
MUT:GJB1:Thr86Ile	PROT:P08034	GJB1	T	86	I	T86I	Pathogenic	1	2	18	17
MUT:GJB1:Trp133Arg	PROT:P08034	GJB1	W	133	R	W133R	Pathogenic	1	1	18	9
MUT:GJB1:Trp24Cys	PROT:P08034	GJB1	W	24	C	W24C	Likely pathogenic	1	2	18	79
MUT:GJB1:Trp44Cys	PROT:P08034	GJB1	W	44	C	W44C	Likely pathogenic	1	2	18	59
MUT:GJB1:Tyr160Cys	PROT:P08034	GJB1	Y	160	C	Y160C	Likely pathogenic	1	2	18	36
MUT:GJB1:Tyr160His	PROT:P08034	GJB1	Y	160	H	Y160H	Pathogenic/Likely pathogenic	1	2	18	36
MUT:GJB1:Tyr211Cys	PROT:P08034	GJB1	Y	211	C	Y211C	Pathogenic	1	1	18	14
MUT:GJB1:Tyr211His	PROT:P08034	GJB1	Y	211	H	Y211H	Pathogenic	1	2	18	14
MUT:GJB1:Tyr65Cys	PROT:P08034	GJB1	Y	65	C	Y65C	Pathogenic	1	2	18	38
MUT:GJB1:Val136Ala	PROT:P08034	GJB1	V	136	A	V136A	Pathogenic	1	2	18	12
MUT:GJB1:Val139Gly	PROT:P08034	GJB1	V	139	G	V139G	Pathogenic	1	1	18	15
MUT:GJB1:Val139Met	PROT:P08034	GJB1	V	139	M	V139M	Pathogenic	1	3	18	15
MUT:GJB1:Val13Leu	PROT:P08034	GJB1	V	13	L	V13L	Pathogenic	1	1	18	90
MUT:GJB1:Val148Ile	PROT:P08034	GJB1	V	148	I	V148I	Benign/Likely benign	0	2	18	24
MUT:GJB1:Val152Ala	PROT:P08034	GJB1	V	152	A	V152A	Likely pathogenic	1	1	18	28
MUT:GJB1:Val177Ala	PROT:P08034	GJB1	V	177	A	V177A	Pathogenic	1	2	18	48
MUT:GJB1:Val177Met	PROT:P08034	GJB1	V	177	M	V177M	Likely pathogenic	1	3	18	48
MUT:GJB1:Val181Glu	PROT:P08034	GJB1	V	181	E	V181E	Likely pathogenic	1	1	18	44
MUT:GJB1:Val181Met	PROT:P08034	GJB1	V	181	M	V181M	Pathogenic/Likely pathogenic	1	3	18	44
MUT:GJB1:Val189Gly	PROT:P08034	GJB1	V	189	G	V189G	Pathogenic/Likely pathogenic	1	2	18	36
MUT:GJB1:Val192Ile	PROT:P08034	GJB1	V	192	I	V192I	Likely benign	0	2	18	33
MUT:GJB1:Val23Ala	PROT:P08034	GJB1	V	23	A	V23A	Pathogenic	1	2	18	80
MUT:GJB1:Val35Glu	PROT:P08034	GJB1	V	35	E	V35E	Likely pathogenic	1	1	18	68
MUT:GJB1:Val38Ala	PROT:P08034	GJB1	V	38	A	V38A	Likely pathogenic	1	2	18	65
MUT:GJB1:Val38Met	PROT:P08034	GJB1	V	38	M	V38M	Pathogenic/Likely pathogenic	1	2	18	65
MUT:GJB1:Val63Ile	PROT:P08034	GJB1	V	63	I	V63I	Pathogenic	1	4	18	40
MUT:GJB1:Val91Ala	PROT:P08034	GJB1	V	91	A	V91A	Likely pathogenic	1	1	18	12
MUT:GJB1:Val91Glu	PROT:P08034	GJB1	V	91	E	V91E	Likely pathogenic	1	1	18	12
MUT:GJB1:Val91Met	PROT:P08034	GJB1	V	91	M	V91M	Pathogenic/Likely pathogenic	1	2	18	12
MUT:GJB1:Val95Met	PROT:P08034	GJB1	V	95	M	V95M	Pathogenic/Likely pathogenic	1	3	18	8
MUT:GJB3:Arg32Trp	PROT:O75712	GJB3	R	32	W	R32W	Benign	0	1	2	16
MUT:GJB3:Arg42Pro	PROT:O75712	GJB3	R	42	P	R42P	Pathogenic	1	1	2	26
MUT:GJB3:Cys86Ser	PROT:O75712	GJB3	C	86	S	C86S	Pathogenic	1	1	2	70
MUT:GJB3:Gly12Arg	PROT:O75712	GJB3	G	12	R	G12R	Pathogenic	1	1	2	4
MUT:GJB3:Gly12Asp	PROT:O75712	GJB3	G	12	D	G12D	Pathogenic	1	1	2	4
MUT:GJB3:Gly45Glu	PROT:O75712	GJB3	G	45	E	G45E	Likely pathogenic	1	1	2	29
MUT:GJB3:Leu34Pro	PROT:O75712	GJB3	L	34	P	L34P	Pathogenic	1	2	2	18
MUT:GJB3:Tyr177Asp	PROT:O75712	GJB3	Y	177	D	Y177D	Benign/Likely benign	0	1	2	51
MUT:GJB3:Val200Ile	PROT:O75712	GJB3	V	200	I	V200I	Benign	0	1	2	28
MUT:GJB3:Val37Met	PROT:O75712	GJB3	V	37	M	V37M	Benign/Likely benign	0	1	2	21
MUT:GJB3:Val84Ile	PROT:O75712	GJB3	V	84	I	V84I	Benign/Likely benign	0	1	2	68
MUT:GJC3:Ala267Val	PROT:Q8NFK1	GJC3	A	267	V	A267V	Benign	0	1	1	25
MUT:GJC3:Ile190Asn	PROT:Q8NFK1	GJC3	I	190	N	I190N	Likely benign	0	1	1	52
MUT:GJC3:Phe5Val	PROT:Q8NFK1	GJC3	F	5	V	F5V	Likely benign	0	1	1	237
MUT:GJC3:Pro19His	PROT:Q8NFK1	GJC3	P	19	H	P19H	Likely benign	0	1	1	223
MUT:GJC3:Ser199Arg	PROT:Q8NFK1	GJC3	S	199	R	S199R	Likely benign	0	1	1	43
MUT:GLA:Ala121Pro	PROT:P06280	GLA	A	121	P	A121P	Pathogenic/Likely pathogenic	1	1	10	6
MUT:GLA:Ala135Val	PROT:P06280	GLA	A	135	V	A135V	Pathogenic	1	1	10	8
MUT:GLA:Ala143Pro	PROT:P06280	GLA	A	143	P	A143P	Pathogenic/Likely pathogenic	1	1	10	16
MUT:GLA:Ala156Asp	PROT:P06280	GLA	A	156	D	A156D	Pathogenic	1	1	10	29
MUT:GLA:Ala156Thr	PROT:P06280	GLA	A	156	T	A156T	Pathogenic/Likely pathogenic	1	1	10	29
MUT:GLA:Ala156Val	PROT:P06280	GLA	A	156	V	A156V	Pathogenic	1	1	10	29
MUT:GLA:Ala15Glu	PROT:P06280	GLA	A	15	E	A15E	Pathogenic	1	1	10	8
MUT:GLA:Ala15Gly	PROT:P06280	GLA	A	15	G	A15G	Likely pathogenic	1	1	10	8
MUT:GLA:Ala15Pro	PROT:P06280	GLA	A	15	P	A15P	Likely pathogenic	1	1	10	8
MUT:GLA:Ala160Asp	PROT:P06280	GLA	A	160	D	A160D	Likely pathogenic	1	1	10	33
MUT:GLA:Ala20Asp	PROT:P06280	GLA	A	20	D	A20D	Pathogenic/Likely pathogenic	1	2	10	3
MUT:GLA:Ala20Pro	PROT:P06280	GLA	A	20	P	A20P	Pathogenic	1	1	10	3
MUT:GLA:Ala230Thr	PROT:P06280	GLA	A	230	T	A230T	Likely pathogenic	1	1	10	7
MUT:GLA:Ala257Asp	PROT:P06280	GLA	A	257	D	A257D	Likely pathogenic	1	1	10	17
MUT:GLA:Ala257Pro	PROT:P06280	GLA	A	257	P	A257P	Likely pathogenic	1	1	10	17
MUT:GLA:Ala257Val	PROT:P06280	GLA	A	257	V	A257V	Pathogenic/Likely pathogenic	1	1	10	17
MUT:GLA:Ala285Asp	PROT:P06280	GLA	A	285	D	A285D	Pathogenic	1	1	10	23
MUT:GLA:Ala285Pro	PROT:P06280	GLA	A	285	P	A285P	Likely pathogenic	1	1	10	23
MUT:GLA:Ala288Pro	PROT:P06280	GLA	A	288	P	A288P	Likely pathogenic	1	1	10	20
MUT:GLA:Ala291Thr	PROT:P06280	GLA	A	291	T	A291T	Likely pathogenic	1	1	10	17
MUT:GLA:Ala292Pro	PROT:P06280	GLA	A	292	P	A292P	Pathogenic/Likely pathogenic	1	1	10	16
MUT:GLA:Ala292Val	PROT:P06280	GLA	A	292	V	A292V	Pathogenic	1	1	10	16
MUT:GLA:Ala309Pro	PROT:P06280	GLA	A	309	P	A309P	Likely pathogenic	1	1	10	1
MUT:GLA:Ala31Val	PROT:P06280	GLA	A	31	V	A31V	Pathogenic/Likely pathogenic	1	1	10	8
MUT:GLA:Ala348Pro	PROT:P06280	GLA	A	348	P	A348P	Pathogenic/Likely pathogenic	1	2	10	22
MUT:GLA:Ala350Pro	PROT:P06280	GLA	A	350	P	A350P	Pathogenic	1	1	10	21
MUT:GLA:Ala352Asp	PROT:P06280	GLA	A	352	D	A352D	Pathogenic	1	1	10	19
MUT:GLA:Ala352Pro	PROT:P06280	GLA	A	352	P	A352P	Pathogenic	1	1	10	19
MUT:GLA:Ala377Asp	PROT:P06280	GLA	A	377	D	A377D	Pathogenic	1	1	10	6
MUT:GLA:Ala37Pro	PROT:P06280	GLA	A	37	P	A37P	Pathogenic/Likely pathogenic	1	1	10	14
MUT:GLA:Ala37Ser	PROT:P06280	GLA	A	37	S	A37S	Likely pathogenic	1	1	10	14
MUT:GLA:Ala37Thr	PROT:P06280	GLA	A	37	T	A37T	Likely pathogenic	1	1	10	14
MUT:GLA:Ala37Val	PROT:P06280	GLA	A	37	V	A37V	Likely pathogenic	1	1	10	14
MUT:GLA:Ala73Glu	PROT:P06280	GLA	A	73	E	A73E	Pathogenic	1	1	10	50
MUT:GLA:Ala73Val	PROT:P06280	GLA	A	73	V	A73V	Likely pathogenic	1	1	10	50
MUT:GLA:Ala97Pro	PROT:P06280	GLA	A	97	P	A97P	Pathogenic	1	1	10	30
MUT:GLA:Ala97Val	PROT:P06280	GLA	A	97	V	A97V	Pathogenic/Likely pathogenic	1	1	10	30
MUT:GLA:Arg100Lys	PROT:P06280	GLA	R	100	K	R100K	Pathogenic	1	1	10	27
MUT:GLA:Arg100Thr	PROT:P06280	GLA	R	100	T	R100T	Pathogenic	1	1	10	27
MUT:GLA:Arg112Cys	PROT:P06280	GLA	R	112	C	R112C	Pathogenic	1	1	10	15
MUT:GLA:Arg112Gly	PROT:P06280	GLA	R	112	G	R112G	Likely pathogenic	1	1	10	15
MUT:GLA:Arg112His	PROT:P06280	GLA	R	112	H	R112H	Pathogenic/Likely pathogenic	1	1	10	15
MUT:GLA:Arg112Leu	PROT:P06280	GLA	R	112	L	R112L	Pathogenic/Likely pathogenic	1	1	10	15
MUT:GLA:Arg112Ser	PROT:P06280	GLA	R	112	S	R112S	Pathogenic/Likely pathogenic	1	1	10	15
MUT:GLA:Arg220Pro	PROT:P06280	GLA	R	220	P	R220P	Likely pathogenic	1	1	10	17
MUT:GLA:Arg227Gln	PROT:P06280	GLA	R	227	Q	R227Q	Pathogenic	1	1	10	10
MUT:GLA:Arg227Pro	PROT:P06280	GLA	R	227	P	R227P	Pathogenic	1	2	10	10
MUT:GLA:Arg301Gln	PROT:P06280	GLA	R	301	Q	R301Q	Pathogenic	1	2	10	7
MUT:GLA:Arg301Gly	PROT:P06280	GLA	R	301	G	R301G	Pathogenic/Likely pathogenic	1	1	10	7
MUT:GLA:Arg301Leu	PROT:P06280	GLA	R	301	L	R301L	Pathogenic	1	1	10	7
MUT:GLA:Arg301Pro	PROT:P06280	GLA	R	301	P	R301P	Pathogenic	1	1	10	7
MUT:GLA:Arg342Gln	PROT:P06280	GLA	R	342	Q	R342Q	Pathogenic	1	1	10	16
MUT:GLA:Arg342Leu	PROT:P06280	GLA	R	342	L	R342L	Pathogenic	1	1	10	16
MUT:GLA:Arg342Pro	PROT:P06280	GLA	R	342	P	R342P	Likely pathogenic	1	1	10	16
MUT:GLA:Arg356Gly	PROT:P06280	GLA	R	356	G	R356G	Pathogenic/Likely pathogenic	1	1	10	15
MUT:GLA:Arg356Pro	PROT:P06280	GLA	R	356	P	R356P	Likely pathogenic	1	2	10	15
MUT:GLA:Arg356Trp	PROT:P06280	GLA	R	356	W	R356W	Pathogenic/Likely pathogenic	1	2	10	15
MUT:GLA:Arg363Cys	PROT:P06280	GLA	R	363	C	R363C	Pathogenic/Likely pathogenic	1	1	10	8
MUT:GLA:Arg363His	PROT:P06280	GLA	R	363	H	R363H	Pathogenic/Likely pathogenic	1	1	10	8
MUT:GLA:Arg363Pro	PROT:P06280	GLA	R	363	P	R363P	Likely pathogenic	1	1	10	8
MUT:GLA:Arg49Cys	PROT:P06280	GLA	R	49	C	R49C	Pathogenic	1	1	10	26
MUT:GLA:Arg49Gly	PROT:P06280	GLA	R	49	G	R49G	Pathogenic	1	1	10	26
MUT:GLA:Arg49Leu	PROT:P06280	GLA	R	49	L	R49L	Pathogenic	1	1	10	26
MUT:GLA:Arg49Pro	PROT:P06280	GLA	R	49	P	R49P	Pathogenic/Likely pathogenic	1	1	10	26
MUT:GLA:Arg49Ser	PROT:P06280	GLA	R	49	S	R49S	Pathogenic/Likely pathogenic	1	1	10	26
MUT:GLA:Asn139Ser	PROT:P06280	GLA	N	139	S	N139S	Likely benign	0	1	10	12
MUT:GLA:Asn215Ile	PROT:P06280	GLA	N	215	I	N215I	Likely pathogenic	1	1	10	22
MUT:GLA:Asn215Ser	PROT:P06280	GLA	N	215	S	N215S	Pathogenic/Likely pathogenic	1	2	10	22
MUT:GLA:Asn224Asp	PROT:P06280	GLA	N	224	D	N224D	Pathogenic	1	1	10	13
MUT:GLA:Asn224His	PROT:P06280	GLA	N	224	H	N224H	Likely pathogenic	1	1	10	13
MUT:GLA:Asn224Lys	PROT:P06280	GLA	N	224	K	N224K	Likely pathogenic	1	1	10	13
MUT:GLA:Asn224Ser	PROT:P06280	GLA	N	224	S	N224S	Pathogenic/Likely pathogenic	1	1	10	13
MUT:GLA:Asn224Thr	PROT:P06280	GLA	N	224	T	N224T	Likely pathogenic	1	1	10	13
MUT:GLA:Asn263Ser	PROT:P06280	GLA	N	263	S	N263S	Pathogenic/Likely pathogenic	1	1	10	23
MUT:GLA:Asn272Ile	PROT:P06280	GLA	N	272	I	N272I	Likely pathogenic	1	1	10	32
MUT:GLA:Asn272Lys	PROT:P06280	GLA	N	272	K	N272K	Pathogenic	1	2	10	32
MUT:GLA:Asn272Ser	PROT:P06280	GLA	N	272	S	N272S	Pathogenic/Likely pathogenic	1	1	10	32
MUT:GLA:Asn298Asp	PROT:P06280	GLA	N	298	D	N298D	Likely pathogenic	1	1	10	10
MUT:GLA:Asn298His	PROT:P06280	GLA	N	298	H	N298H	Pathogenic	1	1	10	10
MUT:GLA:Asn298Lys	PROT:P06280	GLA	N	298	K	N298K	Pathogenic	1	2	10	10
MUT:GLA:Asn298Ser	PROT:P06280	GLA	N	298	S	N298S	Likely pathogenic	1	1	10	10
MUT:GLA:Asn320Ile	PROT:P06280	GLA	N	320	I	N320I	Pathogenic	1	1	10	6
MUT:GLA:Asn320Lys	PROT:P06280	GLA	N	320	K	N320K	Likely pathogenic	1	1	10	6
MUT:GLA:Asn320Tyr	PROT:P06280	GLA	N	320	Y	N320Y	Pathogenic	1	1	10	6
MUT:GLA:Asn34His	PROT:P06280	GLA	N	34	H	N34H	Likely pathogenic	1	1	10	11
MUT:GLA:Asn34Lys	PROT:P06280	GLA	N	34	K	N34K	Likely pathogenic	1	1	10	11
MUT:GLA:Asn34Ser	PROT:P06280	GLA	N	34	S	N34S	Pathogenic	1	1	10	11
MUT:GLA:Asn355Lys	PROT:P06280	GLA	N	355	K	N355K	Pathogenic	1	1	10	16
MUT:GLA:Asp109Gly	PROT:P06280	GLA	D	109	G	D109G	Pathogenic/Likely pathogenic	1	1	10	18
MUT:GLA:Asp136Glu	PROT:P06280	GLA	D	136	E	D136E	Pathogenic	1	1	10	9
MUT:GLA:Asp136His	PROT:P06280	GLA	D	136	H	D136H	Likely pathogenic	1	1	10	9
MUT:GLA:Asp136Tyr	PROT:P06280	GLA	D	136	Y	D136Y	Pathogenic	1	1	10	9
MUT:GLA:Asp155Glu	PROT:P06280	GLA	D	155	E	D155E	Pathogenic	1	1	10	28
MUT:GLA:Asp155His	PROT:P06280	GLA	D	155	H	D155H	Pathogenic	1	1	10	28
MUT:GLA:Asp165Gly	PROT:P06280	GLA	D	165	G	D165G	Likely pathogenic	1	2	10	38
MUT:GLA:Asp165His	PROT:P06280	GLA	D	165	H	D165H	Pathogenic	1	1	10	38
MUT:GLA:Asp165Tyr	PROT:P06280	GLA	D	165	Y	D165Y	Pathogenic	1	1	10	38
MUT:GLA:Asp165Val	PROT:P06280	GLA	D	165	V	D165V	Pathogenic	1	1	10	38
MUT:GLA:Asp170Asn	PROT:P06280	GLA	D	170	N	D170N	Pathogenic	1	1	10	43
MUT:GLA:Asp170Gly	PROT:P06280	GLA	D	170	G	D170G	Pathogenic	1	1	10	43
MUT:GLA:Asp170His	PROT:P06280	GLA	D	170	H	D170H	Pathogenic	1	1	10	43
MUT:GLA:Asp170Val	PROT:P06280	GLA	D	170	V	D170V	Pathogenic	1	1	10	43
MUT:GLA:Asp231Asn	PROT:P06280	GLA	D	231	N	D231N	Pathogenic	1	1	10	6
MUT:GLA:Asp231Gly	PROT:P06280	GLA	D	231	G	D231G	Pathogenic/Likely pathogenic	1	2	10	6
MUT:GLA:Asp231Val	PROT:P06280	GLA	D	231	V	D231V	Pathogenic	1	1	10	6
MUT:GLA:Asp234Glu	PROT:P06280	GLA	D	234	E	D234E	Likely pathogenic	1	1	10	3
MUT:GLA:Asp234Tyr	PROT:P06280	GLA	D	234	Y	D234Y	Pathogenic/Likely pathogenic	1	1	10	3
MUT:GLA:Asp264Ala	PROT:P06280	GLA	D	264	A	D264A	Likely pathogenic	1	1	10	24
MUT:GLA:Asp264Tyr	PROT:P06280	GLA	D	264	Y	D264Y	Pathogenic	1	1	10	24
MUT:GLA:Asp264Val	PROT:P06280	GLA	D	264	V	D264V	Pathogenic/Likely pathogenic	1	1	10	24
MUT:GLA:Asp266Asn	PROT:P06280	GLA	D	266	N	D266N	Pathogenic	1	1	10	26
MUT:GLA:Asp266Glu	PROT:P06280	GLA	D	266	E	D266E	Pathogenic	1	1	10	26
MUT:GLA:Asp266Gly	PROT:P06280	GLA	D	266	G	D266G	Likely pathogenic	1	1	10	26
MUT:GLA:Asp266Tyr	PROT:P06280	GLA	D	266	Y	D266Y	Pathogenic	1	1	10	26
MUT:GLA:Asp266Val	PROT:P06280	GLA	D	266	V	D266V	Pathogenic	1	1	10	26
MUT:GLA:Asp299Gly	PROT:P06280	GLA	D	299	G	D299G	Pathogenic/Likely pathogenic	1	1	10	9
MUT:GLA:Asp299Val	PROT:P06280	GLA	D	299	V	D299V	Likely pathogenic	1	1	10	9
MUT:GLA:Asp322Glu	PROT:P06280	GLA	D	322	E	D322E	Pathogenic	1	1	10	4
MUT:GLA:Asp322His	PROT:P06280	GLA	D	322	H	D322H	Likely pathogenic	1	1	10	4
MUT:GLA:Asp33Gly	PROT:P06280	GLA	D	33	G	D33G	Likely pathogenic	1	2	10	10
MUT:GLA:Asp33His	PROT:P06280	GLA	D	33	H	D33H	Likely pathogenic	1	1	10	10
MUT:GLA:Asp33Tyr	PROT:P06280	GLA	D	33	Y	D33Y	Likely pathogenic	1	1	10	10
MUT:GLA:Asp92Asn	PROT:P06280	GLA	D	92	N	D92N	Pathogenic	1	1	10	35
MUT:GLA:Asp92Gly	PROT:P06280	GLA	D	92	G	D92G	Pathogenic/Likely pathogenic	1	1	10	35
MUT:GLA:Asp92His	PROT:P06280	GLA	D	92	H	D92H	Pathogenic	1	1	10	35
MUT:GLA:Asp92Tyr	PROT:P06280	GLA	D	92	Y	D92Y	Pathogenic/Likely pathogenic	1	1	10	35
MUT:GLA:Asp92Val	PROT:P06280	GLA	D	92	V	D92V	Likely pathogenic	1	1	10	35
MUT:GLA:Asp93Asn	PROT:P06280	GLA	D	93	N	D93N	Pathogenic	1	1	10	34
MUT:GLA:Asp93Glu	PROT:P06280	GLA	D	93	E	D93E	Pathogenic	1	1	10	34
MUT:GLA:Asp93Gly	PROT:P06280	GLA	D	93	G	D93G	Likely pathogenic	1	1	10	34
MUT:GLA:Asp93Tyr	PROT:P06280	GLA	D	93	Y	D93Y	Pathogenic	1	1	10	34
MUT:GLA:Asp93Val	PROT:P06280	GLA	D	93	V	D93V	Pathogenic	1	1	10	34
MUT:GLA:Cys142Arg	PROT:P06280	GLA	C	142	R	C142R	Pathogenic	1	1	10	15
MUT:GLA:Cys142Phe	PROT:P06280	GLA	C	142	F	C142F	Likely pathogenic	1	1	10	15
MUT:GLA:Cys142Trp	PROT:P06280	GLA	C	142	W	C142W	Pathogenic	1	1	10	15
MUT:GLA:Cys142Tyr	PROT:P06280	GLA	C	142	Y	C142Y	Pathogenic	1	1	10	15
MUT:GLA:Cys172Arg	PROT:P06280	GLA	C	172	R	C172R	Pathogenic/Likely pathogenic	1	1	10	45
MUT:GLA:Cys172Gly	PROT:P06280	GLA	C	172	G	C172G	Pathogenic	1	2	10	45
MUT:GLA:Cys172Phe	PROT:P06280	GLA	C	172	F	C172F	Likely pathogenic	1	1	10	45
MUT:GLA:Cys172Ser	PROT:P06280	GLA	C	172	S	C172S	Likely pathogenic	1	1	10	45
MUT:GLA:Cys172Trp	PROT:P06280	GLA	C	172	W	C172W	Likely pathogenic	1	2	10	45
MUT:GLA:Cys172Tyr	PROT:P06280	GLA	C	172	Y	C172Y	Pathogenic	1	1	10	45
MUT:GLA:Cys174Arg	PROT:P06280	GLA	C	174	R	C174R	Pathogenic	1	1	10	47
MUT:GLA:Cys174Gly	PROT:P06280	GLA	C	174	G	C174G	Likely pathogenic	1	1	10	47
MUT:GLA:Cys174Tyr	PROT:P06280	GLA	C	174	Y	C174Y	Pathogenic	1	1	10	47
MUT:GLA:Cys202Arg	PROT:P06280	GLA	C	202	R	C202R	Pathogenic/Likely pathogenic	1	1	10	35
MUT:GLA:Cys202Ser	PROT:P06280	GLA	C	202	S	C202S	Likely pathogenic	1	1	10	35
MUT:GLA:Cys202Trp	PROT:P06280	GLA	C	202	W	C202W	Pathogenic	1	1	10	35
MUT:GLA:Cys202Tyr	PROT:P06280	GLA	C	202	Y	C202Y	Pathogenic/Likely pathogenic	1	1	10	35
MUT:GLA:Cys223Arg	PROT:P06280	GLA	C	223	R	C223R	Pathogenic/Likely pathogenic	1	2	10	14
MUT:GLA:Cys223Gly	PROT:P06280	GLA	C	223	G	C223G	Pathogenic	1	1	10	14
MUT:GLA:Cys223Phe	PROT:P06280	GLA	C	223	F	C223F	Likely pathogenic	1	1	10	14
MUT:GLA:Cys223Ser	PROT:P06280	GLA	C	223	S	C223S	Likely pathogenic	1	1	10	14
MUT:GLA:Cys223Tyr	PROT:P06280	GLA	C	223	Y	C223Y	Pathogenic/Likely pathogenic	1	1	10	14
MUT:GLA:Cys378Arg	PROT:P06280	GLA	C	378	R	C378R	Pathogenic/Likely pathogenic	1	1	10	7
MUT:GLA:Cys378Phe	PROT:P06280	GLA	C	378	F	C378F	Likely pathogenic	1	1	10	7
MUT:GLA:Cys378Tyr	PROT:P06280	GLA	C	378	Y	C378Y	Pathogenic/Likely pathogenic	1	1	10	7
MUT:GLA:Cys382Ser	PROT:P06280	GLA	C	382	S	C382S	Likely pathogenic	1	1	10	9
MUT:GLA:Cys382Trp	PROT:P06280	GLA	C	382	W	C382W	Likely pathogenic	1	1	10	9
MUT:GLA:Cys382Tyr	PROT:P06280	GLA	C	382	Y	C382Y	Pathogenic	1	1	10	9
MUT:GLA:Cys52Arg	PROT:P06280	GLA	C	52	R	C52R	Pathogenic	1	1	10	29
MUT:GLA:Cys52Gly	PROT:P06280	GLA	C	52	G	C52G	Pathogenic/Likely pathogenic	1	1	10	29
MUT:GLA:Cys52Phe	PROT:P06280	GLA	C	52	F	C52F	Likely pathogenic	1	1	10	29
MUT:GLA:Cys52Ser	PROT:P06280	GLA	C	52	S	C52S	Pathogenic	1	1	10	29
MUT:GLA:Cys52Trp	PROT:P06280	GLA	C	52	W	C52W	Likely pathogenic	1	1	10	29
MUT:GLA:Cys52Tyr	PROT:P06280	GLA	C	52	Y	C52Y	Pathogenic	1	1	10	29
MUT:GLA:Cys56Gly	PROT:P06280	GLA	C	56	G	C56G	Pathogenic	1	1	10	33
MUT:GLA:Cys56Tyr	PROT:P06280	GLA	C	56	Y	C56Y	Pathogenic	1	1	10	33
MUT:GLA:Cys63Gly	PROT:P06280	GLA	C	63	G	C63G	Likely pathogenic	1	1	10	40
MUT:GLA:Cys63Ser	PROT:P06280	GLA	C	63	S	C63S	Likely pathogenic	1	1	10	40
MUT:GLA:Cys63Tyr	PROT:P06280	GLA	C	63	Y	C63Y	Pathogenic	1	1	10	40
MUT:GLA:Cys90Trp	PROT:P06280	GLA	C	90	W	C90W	Pathogenic	1	1	10	37
MUT:GLA:Cys90Tyr	PROT:P06280	GLA	C	90	Y	C90Y	Pathogenic	1	1	10	37
MUT:GLA:Cys94Arg	PROT:P06280	GLA	C	94	R	C94R	Likely pathogenic	1	1	10	33
MUT:GLA:Cys94Phe	PROT:P06280	GLA	C	94	F	C94F	Likely pathogenic	1	1	10	33
MUT:GLA:Cys94Ser	PROT:P06280	GLA	C	94	S	C94S	Pathogenic	1	1	10	33
MUT:GLA:Cys94Tyr	PROT:P06280	GLA	C	94	Y	C94Y	Pathogenic/Likely pathogenic	1	1	10	33
MUT:GLA:Gln250Lys	PROT:P06280	GLA	Q	250	K	Q250K	Likely pathogenic	1	1	10	10
MUT:GLA:Gln250Pro	PROT:P06280	GLA	Q	250	P	Q250P	Pathogenic/Likely pathogenic	1	1	10	10
MUT:GLA:Gln279Arg	PROT:P06280	GLA	Q	279	R	Q279R	Pathogenic	1	1	10	29
MUT:GLA:Gln279Glu	PROT:P06280	GLA	Q	279	E	Q279E	Pathogenic/Likely pathogenic	1	1	10	29
MUT:GLA:Gln279His	PROT:P06280	GLA	Q	279	H	Q279H	Pathogenic	1	1	10	29
MUT:GLA:Gln279Lys	PROT:P06280	GLA	Q	279	K	Q279K	Pathogenic	1	1	10	29
MUT:GLA:Gln280Lys	PROT:P06280	GLA	Q	280	K	Q280K	Likely pathogenic	1	1	10	28
MUT:GLA:Gln283Pro	PROT:P06280	GLA	Q	283	P	Q283P	Pathogenic	1	1	10	25
MUT:GLA:Gln312Arg	PROT:P06280	GLA	Q	312	R	Q312R	Likely pathogenic	1	1	10	2
MUT:GLA:Gln312His	PROT:P06280	GLA	Q	312	H	Q312H	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Gln321Arg	PROT:P06280	GLA	Q	321	R	Q321R	Pathogenic/Likely pathogenic	1	1	10	5
MUT:GLA:Gln321Glu	PROT:P06280	GLA	Q	321	E	Q321E	Pathogenic/Likely pathogenic	1	1	10	5
MUT:GLA:Gln321His	PROT:P06280	GLA	Q	321	H	Q321H	Pathogenic	1	1	10	5
MUT:GLA:Gln321Leu	PROT:P06280	GLA	Q	321	L	Q321L	Pathogenic	1	1	10	5
MUT:GLA:Gln327Arg	PROT:P06280	GLA	Q	327	R	Q327R	Likely pathogenic	1	2	10	1
MUT:GLA:Gln327His	PROT:P06280	GLA	Q	327	H	Q327H	Likely pathogenic	1	1	10	1
MUT:GLA:Gln327Leu	PROT:P06280	GLA	Q	327	L	Q327L	Pathogenic	1	2	10	1
MUT:GLA:Gln327Lys	PROT:P06280	GLA	Q	327	K	Q327K	Pathogenic	1	1	10	1
MUT:GLA:Gln386Pro	PROT:P06280	GLA	Q	386	P	Q386P	Pathogenic/Likely pathogenic	1	1	10	5
MUT:GLA:Gln57Pro	PROT:P06280	GLA	Q	57	P	Q57P	Likely pathogenic	1	1	10	34
MUT:GLA:Glu338Lys	PROT:P06280	GLA	E	338	K	E338K	Likely pathogenic	1	1	10	12
MUT:GLA:Glu341Gly	PROT:P06280	GLA	E	341	G	E341G	Likely pathogenic	1	1	10	15
MUT:GLA:Glu341Lys	PROT:P06280	GLA	E	341	K	E341K	Pathogenic	1	1	10	15
MUT:GLA:Glu358Ala	PROT:P06280	GLA	E	358	A	E358A	Likely pathogenic	1	1	10	13
MUT:GLA:Glu358Gly	PROT:P06280	GLA	E	358	G	E358G	Pathogenic	1	1	10	13
MUT:GLA:Glu358Lys	PROT:P06280	GLA	E	358	K	E358K	Pathogenic	1	1	10	13
MUT:GLA:Glu48Asp	PROT:P06280	GLA	E	48	D	E48D	Likely pathogenic	1	1	10	25
MUT:GLA:Glu48Gly	PROT:P06280	GLA	E	48	G	E48G	Likely pathogenic	1	1	10	25
MUT:GLA:Glu48Lys	PROT:P06280	GLA	E	48	K	E48K	Pathogenic	1	1	10	25
MUT:GLA:Glu59Lys	PROT:P06280	GLA	E	59	K	E59K	Pathogenic	1	1	10	36
MUT:GLA:Glu59Val	PROT:P06280	GLA	E	59	V	E59V	Likely pathogenic	1	1	10	36
MUT:GLA:Glu66Gly	PROT:P06280	GLA	E	66	G	E66G	Likely pathogenic	1	1	10	43
MUT:GLA:Glu66Lys	PROT:P06280	GLA	E	66	K	E66K	Pathogenic	1	1	10	43
MUT:GLA:Gly116Val	PROT:P06280	GLA	G	116	V	G116V	Likely pathogenic	1	1	10	11
MUT:GLA:Gly132Ala	PROT:P06280	GLA	G	132	A	G132A	Likely pathogenic	1	1	10	5
MUT:GLA:Gly132Arg	PROT:P06280	GLA	G	132	R	G132R	Pathogenic/Likely pathogenic	1	1	10	5
MUT:GLA:Gly132Glu	PROT:P06280	GLA	G	132	E	G132E	Pathogenic	1	1	10	5
MUT:GLA:Gly138Arg	PROT:P06280	GLA	G	138	R	G138R	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Gly138Glu	PROT:P06280	GLA	G	138	E	G138E	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Gly138Val	PROT:P06280	GLA	G	138	V	G138V	Likely pathogenic	1	1	10	11
MUT:GLA:Gly144Val	PROT:P06280	GLA	G	144	V	G144V	Pathogenic	1	1	10	17
MUT:GLA:Gly147Arg	PROT:P06280	GLA	G	147	R	G147R	Pathogenic/Likely pathogenic	1	1	10	20
MUT:GLA:Gly147Val	PROT:P06280	GLA	G	147	V	G147V	Likely pathogenic	1	2	10	20
MUT:GLA:Gly163Arg	PROT:P06280	GLA	G	163	R	G163R	Likely pathogenic	1	1	10	36
MUT:GLA:Gly163Val	PROT:P06280	GLA	G	163	V	G163V	Pathogenic	1	1	10	36
MUT:GLA:Gly171Arg	PROT:P06280	GLA	G	171	R	G171R	Pathogenic	1	1	10	44
MUT:GLA:Gly171Asp	PROT:P06280	GLA	G	171	D	G171D	Pathogenic/Likely pathogenic	1	1	10	44
MUT:GLA:Gly171Cys	PROT:P06280	GLA	G	171	C	G171C	Pathogenic	1	1	10	44
MUT:GLA:Gly171Ser	PROT:P06280	GLA	G	171	S	G171S	Likely pathogenic	1	1	10	44
MUT:GLA:Gly171Val	PROT:P06280	GLA	G	171	V	G171V	Likely pathogenic	1	1	10	44
MUT:GLA:Gly183Ala	PROT:P06280	GLA	G	183	A	G183A	Likely pathogenic	1	1	10	54
MUT:GLA:Gly183Asp	PROT:P06280	GLA	G	183	D	G183D	Pathogenic/Likely pathogenic	1	1	10	54
MUT:GLA:Gly183Cys	PROT:P06280	GLA	G	183	C	G183C	Likely pathogenic	1	1	10	54
MUT:GLA:Gly183Ser	PROT:P06280	GLA	G	183	S	G183S	Pathogenic/Likely pathogenic	1	1	10	54
MUT:GLA:Gly183Val	PROT:P06280	GLA	G	183	V	G183V	Pathogenic	1	1	10	54
MUT:GLA:Gly195Val	PROT:P06280	GLA	G	195	V	G195V	Likely pathogenic	1	1	10	42
MUT:GLA:Gly258Arg	PROT:P06280	GLA	G	258	R	G258R	Likely pathogenic	1	1	10	18
MUT:GLA:Gly258Val	PROT:P06280	GLA	G	258	V	G258V	Pathogenic	1	1	10	18
MUT:GLA:Gly260Ala	PROT:P06280	GLA	G	260	A	G260A	Likely pathogenic	1	1	10	20
MUT:GLA:Gly260Arg	PROT:P06280	GLA	G	260	R	G260R	Likely pathogenic	1	1	10	20
MUT:GLA:Gly260Glu	PROT:P06280	GLA	G	260	E	G260E	Pathogenic/Likely pathogenic	1	1	10	20
MUT:GLA:Gly260Val	PROT:P06280	GLA	G	260	V	G260V	Likely pathogenic	1	1	10	20
MUT:GLA:Gly261Asp	PROT:P06280	GLA	G	261	D	G261D	Pathogenic	1	1	10	21
MUT:GLA:Gly261Cys	PROT:P06280	GLA	G	261	C	G261C	Likely pathogenic	1	1	10	21
MUT:GLA:Gly261Val	PROT:P06280	GLA	G	261	V	G261V	Pathogenic/Likely pathogenic	1	1	10	21
MUT:GLA:Gly271Ala	PROT:P06280	GLA	G	271	A	G271A	Likely pathogenic	1	1	10	31
MUT:GLA:Gly271Asp	PROT:P06280	GLA	G	271	D	G271D	Pathogenic	1	1	10	31
MUT:GLA:Gly271Cys	PROT:P06280	GLA	G	271	C	G271C	Pathogenic/Likely pathogenic	1	1	10	31
MUT:GLA:Gly271Ser	PROT:P06280	GLA	G	271	S	G271S	Pathogenic	1	1	10	31
MUT:GLA:Gly271Val	PROT:P06280	GLA	G	271	V	G271V	Likely pathogenic	1	1	10	31
MUT:GLA:Gly274Asp	PROT:P06280	GLA	G	274	D	G274D	Likely pathogenic	1	1	10	34
MUT:GLA:Gly274Ser	PROT:P06280	GLA	G	274	S	G274S	Pathogenic	1	1	10	34
MUT:GLA:Gly274Val	PROT:P06280	GLA	G	274	V	G274V	Likely pathogenic	1	1	10	34
MUT:GLA:Gly325Arg	PROT:P06280	GLA	G	325	R	G325R	Pathogenic	1	1	10	1
MUT:GLA:Gly325Asp	PROT:P06280	GLA	G	325	D	G325D	Pathogenic/Likely pathogenic	1	1	10	1
MUT:GLA:Gly328Ala	PROT:P06280	GLA	G	328	A	G328A	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Gly328Arg	PROT:P06280	GLA	G	328	R	G328R	Pathogenic	1	1	10	2
MUT:GLA:Gly328Glu	PROT:P06280	GLA	G	328	E	G328E	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Gly328Trp	PROT:P06280	GLA	G	328	W	G328W	Likely pathogenic	1	1	10	2
MUT:GLA:Gly328Val	PROT:P06280	GLA	G	328	V	G328V	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Gly35Arg	PROT:P06280	GLA	G	35	R	G35R	Likely pathogenic	1	1	10	12
MUT:GLA:Gly35Glu	PROT:P06280	GLA	G	35	E	G35E	Likely pathogenic	1	2	10	12
MUT:GLA:Gly35Val	PROT:P06280	GLA	G	35	V	G35V	Likely pathogenic	1	1	10	12
MUT:GLA:Gly360Arg	PROT:P06280	GLA	G	360	R	G360R	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Gly360Asp	PROT:P06280	GLA	G	360	D	G360D	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Gly360Cys	PROT:P06280	GLA	G	360	C	G360C	Pathogenic	1	1	10	11
MUT:GLA:Gly360Ser	PROT:P06280	GLA	G	360	S	G360S	Pathogenic	1	1	10	11
MUT:GLA:Gly361Ala	PROT:P06280	GLA	G	361	A	G361A	Likely pathogenic	1	1	10	10
MUT:GLA:Gly361Arg	PROT:P06280	GLA	G	361	R	G361R	Pathogenic	1	1	10	10
MUT:GLA:Gly361Glu	PROT:P06280	GLA	G	361	E	G361E	Likely pathogenic	1	1	10	10
MUT:GLA:Gly373Arg	PROT:P06280	GLA	G	373	R	G373R	Likely pathogenic	1	1	10	2
MUT:GLA:Gly373Asp	PROT:P06280	GLA	G	373	D	G373D	Pathogenic	1	1	10	2
MUT:GLA:Gly373Ser	PROT:P06280	GLA	G	373	S	G373S	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Gly373Val	PROT:P06280	GLA	G	373	V	G373V	Pathogenic	1	1	10	2
MUT:GLA:Gly411Arg	PROT:P06280	GLA	G	411	R	G411R	Likely pathogenic	1	1	10	18
MUT:GLA:Gly411Asp	PROT:P06280	GLA	G	411	D	G411D	Pathogenic	1	1	10	18
MUT:GLA:Gly43Arg	PROT:P06280	GLA	G	43	R	G43R	Pathogenic	1	1	10	20
MUT:GLA:Gly43Asp	PROT:P06280	GLA	G	43	D	G43D	Pathogenic	1	1	10	20
MUT:GLA:Gly43Ser	PROT:P06280	GLA	G	43	S	G43S	Pathogenic/Likely pathogenic	1	1	10	20
MUT:GLA:Gly43Val	PROT:P06280	GLA	G	43	V	G43V	Pathogenic	1	1	10	20
MUT:GLA:Gly85Asp	PROT:P06280	GLA	G	85	D	G85D	Pathogenic/Likely pathogenic	1	1	10	42
MUT:GLA:Gly85Ser	PROT:P06280	GLA	G	85	S	G85S	Likely pathogenic	1	1	10	42
MUT:GLA:His125Leu	PROT:P06280	GLA	H	125	L	H125L	Pathogenic	1	1	10	2
MUT:GLA:His125Pro	PROT:P06280	GLA	H	125	P	H125P	Pathogenic	1	1	10	2
MUT:GLA:His225Arg	PROT:P06280	GLA	H	225	R	H225R	Pathogenic/Likely pathogenic	1	1	10	12
MUT:GLA:His225Asp	PROT:P06280	GLA	H	225	D	H225D	Likely pathogenic	1	1	10	12
MUT:GLA:His46Arg	PROT:P06280	GLA	H	46	R	H46R	Pathogenic/Likely pathogenic	1	1	10	23
MUT:GLA:His46Leu	PROT:P06280	GLA	H	46	L	H46L	Pathogenic	1	1	10	23
MUT:GLA:His46Pro	PROT:P06280	GLA	H	46	P	H46P	Likely pathogenic	1	1	10	23
MUT:GLA:His46Tyr	PROT:P06280	GLA	H	46	Y	H46Y	Pathogenic	1	1	10	23
MUT:GLA:Ile117Ser	PROT:P06280	GLA	I	117	S	I117S	Pathogenic	1	1	10	10
MUT:GLA:Ile133Asn	PROT:P06280	GLA	I	133	N	I133N	Pathogenic	1	1	10	6
MUT:GLA:Ile219Asn	PROT:P06280	GLA	I	219	N	I219N	Likely pathogenic	1	1	10	18
MUT:GLA:Ile219Met	PROT:P06280	GLA	I	219	M	I219M	Likely pathogenic	1	2	10	18
MUT:GLA:Ile219Thr	PROT:P06280	GLA	I	219	T	I219T	Likely pathogenic	1	1	10	18
MUT:GLA:Ile232Thr	PROT:P06280	GLA	I	232	T	I232T	Pathogenic/Likely pathogenic	1	1	10	5
MUT:GLA:Ile239Thr	PROT:P06280	GLA	I	239	T	I239T	Likely pathogenic	1	1	10	1
MUT:GLA:Ile242Asn	PROT:P06280	GLA	I	242	N	I242N	Pathogenic	1	1	10	2
MUT:GLA:Ile242Thr	PROT:P06280	GLA	I	242	T	I242T	Likely pathogenic	1	1	10	2
MUT:GLA:Ile253Ser	PROT:P06280	GLA	I	253	S	I253S	Pathogenic	1	1	10	13
MUT:GLA:Ile253Thr	PROT:P06280	GLA	I	253	T	I253T	Pathogenic/Likely pathogenic	1	2	10	13
MUT:GLA:Ile270Met	PROT:P06280	GLA	I	270	M	I270M	Pathogenic	1	1	10	30
MUT:GLA:Ile270Thr	PROT:P06280	GLA	I	270	T	I270T	Pathogenic/Likely pathogenic	1	1	10	30
MUT:GLA:Ile289Ser	PROT:P06280	GLA	I	289	S	I289S	Likely pathogenic	1	1	10	19
MUT:GLA:Ile303Asn	PROT:P06280	GLA	I	303	N	I303N	Pathogenic/Likely pathogenic	1	1	10	5
MUT:GLA:Ile303Phe	PROT:P06280	GLA	I	303	F	I303F	Likely pathogenic	1	1	10	5
MUT:GLA:Ile303Ser	PROT:P06280	GLA	I	303	S	I303S	Likely pathogenic	1	1	10	5
MUT:GLA:Ile303Thr	PROT:P06280	GLA	I	303	T	I303T	Likely pathogenic	1	1	10	5
MUT:GLA:Ile317Asn	PROT:P06280	GLA	I	317	N	I317N	Pathogenic	1	1	10	3
MUT:GLA:Ile317Ser	PROT:P06280	GLA	I	317	S	I317S	Pathogenic	1	2	10	3
MUT:GLA:Ile317Thr	PROT:P06280	GLA	I	317	T	I317T	Pathogenic/Likely pathogenic	1	1	10	3
MUT:GLA:Ile319Phe	PROT:P06280	GLA	I	319	F	I319F	Likely pathogenic	1	1	10	5
MUT:GLA:Ile319Thr	PROT:P06280	GLA	I	319	T	I319T	Likely pathogenic	1	1	10	5
MUT:GLA:Ile354Lys	PROT:P06280	GLA	I	354	K	I354K	Pathogenic	1	1	10	17
MUT:GLA:Ile384Asn	PROT:P06280	GLA	I	384	N	I384N	Pathogenic	1	1	10	7
MUT:GLA:Ile407Arg	PROT:P06280	GLA	I	407	R	I407R	Likely pathogenic	1	1	10	14
MUT:GLA:Ile407Lys	PROT:P06280	GLA	I	407	K	I407K	Pathogenic	1	1	10	14
MUT:GLA:Ile64Phe	PROT:P06280	GLA	I	64	F	I64F	Likely pathogenic	1	2	10	41
MUT:GLA:Ile91Asn	PROT:P06280	GLA	I	91	N	I91N	Likely pathogenic	1	2	10	36
MUT:GLA:Ile91Thr	PROT:P06280	GLA	I	91	T	I91T	Pathogenic	1	2	10	36
MUT:GLA:Leu106Arg	PROT:P06280	GLA	L	106	R	L106R	Pathogenic	1	1	10	21
MUT:GLA:Leu120Val	PROT:P06280	GLA	L	120	V	L120V	Likely pathogenic	1	1	10	7
MUT:GLA:Leu129Pro	PROT:P06280	GLA	L	129	P	L129P	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Leu131Arg	PROT:P06280	GLA	L	131	R	L131R	Likely pathogenic	1	1	10	4
MUT:GLA:Leu131Pro	PROT:P06280	GLA	L	131	P	L131P	Pathogenic	1	1	10	4
MUT:GLA:Leu14Pro	PROT:P06280	GLA	L	14	P	L14P	Pathogenic/Likely pathogenic	1	1	10	9
MUT:GLA:Leu166Gly	PROT:P06280	GLA	L	166	G	L166G	Pathogenic	1	1	10	39
MUT:GLA:Leu166Val	PROT:P06280	GLA	L	166	V	L166V	Pathogenic	1	1	10	39
MUT:GLA:Leu167Gln	PROT:P06280	GLA	L	167	Q	L167Q	Pathogenic	1	1	10	40
MUT:GLA:Leu167Pro	PROT:P06280	GLA	L	167	P	L167P	Pathogenic/Likely pathogenic	1	1	10	40
MUT:GLA:Leu16Arg	PROT:P06280	GLA	L	16	R	L16R	Likely pathogenic	1	1	10	7
MUT:GLA:Leu16His	PROT:P06280	GLA	L	16	H	L16H	Likely pathogenic	1	1	10	7
MUT:GLA:Leu16Pro	PROT:P06280	GLA	L	16	P	L16P	Pathogenic/Likely pathogenic	1	1	10	7
MUT:GLA:Leu191Gln	PROT:P06280	GLA	L	191	Q	L191Q	Pathogenic	1	1	10	46
MUT:GLA:Leu191Pro	PROT:P06280	GLA	L	191	P	L191P	Pathogenic	1	1	10	46
MUT:GLA:Leu206Pro	PROT:P06280	GLA	L	206	P	L206P	Pathogenic	1	1	10	31
MUT:GLA:Leu21Arg	PROT:P06280	GLA	L	21	R	L21R	Likely pathogenic	1	1	10	2
MUT:GLA:Leu21Pro	PROT:P06280	GLA	L	21	P	L21P	Pathogenic/Likely pathogenic	1	2	10	2
MUT:GLA:Leu243Ser	PROT:P06280	GLA	L	243	S	L243S	Likely pathogenic	1	1	10	3
MUT:GLA:Leu243Trp	PROT:P06280	GLA	L	243	W	L243W	Pathogenic	1	1	10	3
MUT:GLA:Leu268Phe	PROT:P06280	GLA	L	268	F	L268F	Likely pathogenic	1	1	10	28
MUT:GLA:Leu268Ser	PROT:P06280	GLA	L	268	S	L268S	Pathogenic	1	1	10	28
MUT:GLA:Leu275His	PROT:P06280	GLA	L	275	H	L275H	Pathogenic	1	1	10	33
MUT:GLA:Leu275Phe	PROT:P06280	GLA	L	275	F	L275F	Pathogenic/Likely pathogenic	1	1	10	33
MUT:GLA:Leu300His	PROT:P06280	GLA	L	300	H	L300H	Likely pathogenic	1	1	10	8
MUT:GLA:Leu300Pro	PROT:P06280	GLA	L	300	P	L300P	Pathogenic/Likely pathogenic	1	1	10	8
MUT:GLA:Leu310Arg	PROT:P06280	GLA	L	310	R	L310R	Likely pathogenic	1	1	10	2
MUT:GLA:Leu310Phe	PROT:P06280	GLA	L	310	F	L310F	Pathogenic	1	1	10	2
MUT:GLA:Leu310Val	PROT:P06280	GLA	L	310	V	L310V	Likely pathogenic	1	1	10	2
MUT:GLA:Leu311Arg	PROT:P06280	GLA	L	311	R	L311R	Pathogenic	1	1	10	3
MUT:GLA:Leu311Phe	PROT:P06280	GLA	L	311	F	L311F	Pathogenic	1	1	10	3
MUT:GLA:Leu311Pro	PROT:P06280	GLA	L	311	P	L311P	Pathogenic	1	1	10	3
MUT:GLA:Leu311Val	PROT:P06280	GLA	L	311	V	L311V	Likely pathogenic	1	1	10	3
MUT:GLA:Leu32Gln	PROT:P06280	GLA	L	32	Q	L32Q	Likely pathogenic	1	1	10	9
MUT:GLA:Leu32Pro	PROT:P06280	GLA	L	32	P	L32P	Pathogenic/Likely pathogenic	1	1	10	9
MUT:GLA:Leu344Pro	PROT:P06280	GLA	L	344	P	L344P	Pathogenic	1	1	10	18
MUT:GLA:Leu36Phe	PROT:P06280	GLA	L	36	F	L36F	Likely pathogenic	1	1	10	13
MUT:GLA:Leu36Ser	PROT:P06280	GLA	L	36	S	L36S	Likely pathogenic	1	1	10	13
MUT:GLA:Leu36Trp	PROT:P06280	GLA	L	36	W	L36W	Pathogenic	1	2	10	13
MUT:GLA:Leu372Arg	PROT:P06280	GLA	L	372	R	L372R	Pathogenic	1	1	10	1
MUT:GLA:Leu372Gln	PROT:P06280	GLA	L	372	Q	L372Q	Likely pathogenic	1	2	10	1
MUT:GLA:Leu387Pro	PROT:P06280	GLA	L	387	P	L387P	Likely pathogenic	1	1	10	4
MUT:GLA:Leu388His	PROT:P06280	GLA	L	388	H	L388H	Likely pathogenic	1	1	10	3
MUT:GLA:Leu3Pro	PROT:P06280	GLA	L	3	P	L3P	Benign/Likely benign	0	4	10	20
MUT:GLA:Leu403Ser	PROT:P06280	GLA	L	403	S	L403S	Likely pathogenic	1	1	10	10
MUT:GLA:Leu414Ser	PROT:P06280	GLA	L	414	S	L414S	Pathogenic/Likely pathogenic	1	1	10	21
MUT:GLA:Leu415Pro	PROT:P06280	GLA	L	415	P	L415P	Pathogenic	1	1	10	22
MUT:GLA:Leu417Arg	PROT:P06280	GLA	L	417	R	L417R	Pathogenic	1	1	10	24
MUT:GLA:Leu417Pro	PROT:P06280	GLA	L	417	P	L417P	Likely pathogenic	1	1	10	24
MUT:GLA:Leu45Pro	PROT:P06280	GLA	L	45	P	L45P	Pathogenic	1	1	10	22
MUT:GLA:Leu54Phe	PROT:P06280	GLA	L	54	F	L54F	Pathogenic	1	1	10	31
MUT:GLA:Leu54Pro	PROT:P06280	GLA	L	54	P	L54P	Pathogenic	1	1	10	31
MUT:GLA:Leu68Phe	PROT:P06280	GLA	L	68	F	L68F	Pathogenic/Likely pathogenic	1	1	10	45
MUT:GLA:Leu68Pro	PROT:P06280	GLA	L	68	P	L68P	Likely pathogenic	1	1	10	45
MUT:GLA:Leu89Arg	PROT:P06280	GLA	L	89	R	L89R	Pathogenic/Likely pathogenic	1	1	10	38
MUT:GLA:Leu89His	PROT:P06280	GLA	L	89	H	L89H	Likely pathogenic	1	1	10	38
MUT:GLA:Leu89Pro	PROT:P06280	GLA	L	89	P	L89P	Pathogenic	1	1	10	38
MUT:GLA:Lys130Glu	PROT:P06280	GLA	K	130	E	K130E	Likely pathogenic	1	1	10	3
MUT:GLA:Lys168Arg	PROT:P06280	GLA	K	168	R	K168R	Pathogenic	1	1	10	41
MUT:GLA:Lys168Asn	PROT:P06280	GLA	K	168	N	K168N	Pathogenic	1	2	10	41
MUT:GLA:Lys168Gln	PROT:P06280	GLA	K	168	Q	K168Q	Likely pathogenic	1	1	10	41
MUT:GLA:Lys213Arg	PROT:P06280	GLA	K	213	R	K213R	Likely pathogenic	1	3	10	24
MUT:GLA:Lys213Asn	PROT:P06280	GLA	K	213	N	K213N	Likely pathogenic	1	1	10	24
MUT:GLA:Lys213Met	PROT:P06280	GLA	K	213	M	K213M	Likely pathogenic	1	1	10	24
MUT:GLA:Lys308Asn	PROT:P06280	GLA	K	308	N	K308N	Pathogenic/Likely pathogenic	1	1	10	0
MUT:GLA:Lys391Glu	PROT:P06280	GLA	K	391	E	K391E	Likely pathogenic	1	1	10	0
MUT:GLA:Met187Arg	PROT:P06280	GLA	M	187	R	M187R	Pathogenic	1	1	10	50
MUT:GLA:Met187Ile	PROT:P06280	GLA	M	187	I	M187I	Pathogenic	1	2	10	50
MUT:GLA:Met187Lys	PROT:P06280	GLA	M	187	K	M187K	Likely pathogenic	1	1	10	50
MUT:GLA:Met187Thr	PROT:P06280	GLA	M	187	T	M187T	Pathogenic/Likely pathogenic	1	1	10	50
MUT:GLA:Met187Val	PROT:P06280	GLA	M	187	V	M187V	Likely pathogenic	1	1	10	50
MUT:GLA:Met1Ile	PROT:P06280	GLA	M	1	I	M1I	Pathogenic/Likely pathogenic	1	1	10	22
MUT:GLA:Met1Leu	PROT:P06280	GLA	M	1	L	M1L	Pathogenic	1	1	10	22
MUT:GLA:Met1Lys	PROT:P06280	GLA	M	1	K	M1K	Pathogenic	1	1	10	22
MUT:GLA:Met1Thr	PROT:P06280	GLA	M	1	T	M1T	Pathogenic	1	1	10	22
MUT:GLA:Met1Val	PROT:P06280	GLA	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	10	22
MUT:GLA:Met208Arg	PROT:P06280	GLA	M	208	R	M208R	Likely pathogenic	1	1	10	29
MUT:GLA:Met208Lys	PROT:P06280	GLA	M	208	K	M208K	Likely pathogenic	1	1	10	29
MUT:GLA:Met267Arg	PROT:P06280	GLA	M	267	R	M267R	Pathogenic/Likely pathogenic	1	1	10	27
MUT:GLA:Met267Ile	PROT:P06280	GLA	M	267	I	M267I	Pathogenic/Likely pathogenic	1	1	10	27
MUT:GLA:Met284Thr	PROT:P06280	GLA	M	284	T	M284T	Pathogenic	1	1	10	24
MUT:GLA:Met284Val	PROT:P06280	GLA	M	284	V	M284V	Likely pathogenic	1	1	10	24
MUT:GLA:Met290Thr	PROT:P06280	GLA	M	290	T	M290T	Pathogenic/Likely pathogenic	1	2	10	18
MUT:GLA:Met296Ile	PROT:P06280	GLA	M	296	I	M296I	Likely pathogenic	1	1	10	12
MUT:GLA:Met296Leu	PROT:P06280	GLA	M	296	L	M296L	Pathogenic/Likely pathogenic	1	1	10	12
MUT:GLA:Met296Thr	PROT:P06280	GLA	M	296	T	M296T	Likely pathogenic	1	1	10	12
MUT:GLA:Met296Val	PROT:P06280	GLA	M	296	V	M296V	Pathogenic/Likely pathogenic	1	1	10	12
MUT:GLA:Met42Arg	PROT:P06280	GLA	M	42	R	M42R	Likely pathogenic	1	1	10	19
MUT:GLA:Met42Ile	PROT:P06280	GLA	M	42	I	M42I	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GLA:Met42Leu	PROT:P06280	GLA	M	42	L	M42L	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GLA:Met42Lys	PROT:P06280	GLA	M	42	K	M42K	Likely pathogenic	1	1	10	19
MUT:GLA:Met42Thr	PROT:P06280	GLA	M	42	T	M42T	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GLA:Met42Val	PROT:P06280	GLA	M	42	V	M42V	Pathogenic	1	2	10	19
MUT:GLA:Met51Ile	PROT:P06280	GLA	M	51	I	M51I	Likely pathogenic	1	1	10	28
MUT:GLA:Met51Lys	PROT:P06280	GLA	M	51	K	M51K	Likely pathogenic	1	1	10	28
MUT:GLA:Met72Arg	PROT:P06280	GLA	M	72	R	M72R	Likely pathogenic	1	1	10	49
MUT:GLA:Met72Val	PROT:P06280	GLA	M	72	V	M72V	Likely pathogenic	1	1	10	49
MUT:GLA:Met76Arg	PROT:P06280	GLA	M	76	R	M76R	Likely pathogenic	1	1	10	51
MUT:GLA:Phe113Ile	PROT:P06280	GLA	F	113	I	F113I	Likely pathogenic	1	2	10	14
MUT:GLA:Phe113Leu	PROT:P06280	GLA	F	113	L	F113L	Pathogenic/Likely pathogenic	1	1	10	14
MUT:GLA:Phe113Ser	PROT:P06280	GLA	F	113	S	F113S	Pathogenic	1	1	10	14
MUT:GLA:Phe159Ser	PROT:P06280	GLA	F	159	S	F159S	Likely pathogenic	1	1	10	32
MUT:GLA:Phe169Ser	PROT:P06280	GLA	F	169	S	F169S	Likely pathogenic	1	1	10	42
MUT:GLA:Phe18Cys	PROT:P06280	GLA	F	18	C	F18C	Likely pathogenic	1	1	10	5
MUT:GLA:Phe18Ser	PROT:P06280	GLA	F	18	S	F18S	Pathogenic	1	1	10	5
MUT:GLA:Phe229Val	PROT:P06280	GLA	F	229	V	F229V	Likely pathogenic	1	1	10	8
MUT:GLA:Phe273Leu	PROT:P06280	GLA	F	273	L	F273L	Likely pathogenic	1	1	10	33
MUT:GLA:Phe273Ser	PROT:P06280	GLA	F	273	S	F273S	Likely pathogenic	1	1	10	33
MUT:GLA:Phe295Cys	PROT:P06280	GLA	F	295	C	F295C	Pathogenic	1	1	10	13
MUT:GLA:Phe337Ser	PROT:P06280	GLA	F	337	S	F337S	Likely pathogenic	1	1	10	11
MUT:GLA:Phe50Cys	PROT:P06280	GLA	F	50	C	F50C	Likely pathogenic	1	1	10	27
MUT:GLA:Phe69Leu	PROT:P06280	GLA	F	69	L	F69L	Likely pathogenic	1	1	10	46
MUT:GLA:Phe69Ser	PROT:P06280	GLA	F	69	S	F69S	Likely pathogenic	1	1	10	46
MUT:GLA:Pro205Arg	PROT:P06280	GLA	P	205	R	P205R	Pathogenic	1	1	10	32
MUT:GLA:Pro205Leu	PROT:P06280	GLA	P	205	L	P205L	Pathogenic/Likely pathogenic	1	1	10	32
MUT:GLA:Pro205Ser	PROT:P06280	GLA	P	205	S	P205S	Pathogenic/Likely pathogenic	1	1	10	32
MUT:GLA:Pro205Thr	PROT:P06280	GLA	P	205	T	P205T	Pathogenic/Likely pathogenic	1	3	10	32
MUT:GLA:Pro214Leu	PROT:P06280	GLA	P	214	L	P214L	Likely pathogenic	1	2	10	23
MUT:GLA:Pro259Arg	PROT:P06280	GLA	P	259	R	P259R	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GLA:Pro259Leu	PROT:P06280	GLA	P	259	L	P259L	Likely pathogenic	1	1	10	19
MUT:GLA:Pro265Arg	PROT:P06280	GLA	P	265	R	P265R	Pathogenic	1	1	10	25
MUT:GLA:Pro265Ser	PROT:P06280	GLA	P	265	S	P265S	Pathogenic/Likely pathogenic	1	1	10	25
MUT:GLA:Pro293Ala	PROT:P06280	GLA	P	293	A	P293A	Likely pathogenic	1	1	10	15
MUT:GLA:Pro293His	PROT:P06280	GLA	P	293	H	P293H	Likely pathogenic	1	1	10	15
MUT:GLA:Pro293Leu	PROT:P06280	GLA	P	293	L	P293L	Pathogenic/Likely pathogenic	1	1	10	15
MUT:GLA:Pro293Ser	PROT:P06280	GLA	P	293	S	P293S	Pathogenic/Likely pathogenic	1	1	10	15
MUT:GLA:Pro293Thr	PROT:P06280	GLA	P	293	T	P293T	Pathogenic	1	1	10	15
MUT:GLA:Pro362Leu	PROT:P06280	GLA	P	362	L	P362L	Pathogenic/Likely pathogenic	1	1	10	9
MUT:GLA:Pro389Ala	PROT:P06280	GLA	P	389	A	P389A	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Pro389Leu	PROT:P06280	GLA	P	389	L	P389L	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Pro409Ala	PROT:P06280	GLA	P	409	A	P409A	Pathogenic	1	1	10	16
MUT:GLA:Pro409Leu	PROT:P06280	GLA	P	409	L	P409L	Likely pathogenic	1	1	10	16
MUT:GLA:Pro409Ser	PROT:P06280	GLA	P	409	S	P409S	Pathogenic/Likely pathogenic	1	1	10	16
MUT:GLA:Pro409Thr	PROT:P06280	GLA	P	409	T	P409T	Pathogenic/Likely pathogenic	1	1	10	16
MUT:GLA:Pro40His	PROT:P06280	GLA	P	40	H	P40H	Pathogenic	1	1	10	17
MUT:GLA:Pro40Leu	PROT:P06280	GLA	P	40	L	P40L	Pathogenic/Likely pathogenic	1	1	10	17
MUT:GLA:Pro40Ser	PROT:P06280	GLA	P	40	S	P40S	Pathogenic	1	1	10	17
MUT:GLA:Ser126Cys	PROT:P06280	GLA	S	126	C	S126C	Likely pathogenic	1	1	10	1
MUT:GLA:Ser148Arg	PROT:P06280	GLA	S	148	R	S148R	Pathogenic/Likely pathogenic	1	1	10	21
MUT:GLA:Ser148Asn	PROT:P06280	GLA	S	148	N	S148N	Pathogenic	1	1	10	21
MUT:GLA:Ser201Phe	PROT:P06280	GLA	S	201	F	S201F	Pathogenic/Likely pathogenic	1	1	10	36
MUT:GLA:Ser201Tyr	PROT:P06280	GLA	S	201	Y	S201Y	Likely pathogenic	1	1	10	36
MUT:GLA:Ser235Cys	PROT:P06280	GLA	S	235	C	S235C	Pathogenic/Likely pathogenic	1	1	10	2
MUT:GLA:Ser235Phe	PROT:P06280	GLA	S	235	F	S235F	Pathogenic	1	1	10	2
MUT:GLA:Ser235Tyr	PROT:P06280	GLA	S	235	Y	S235Y	Likely pathogenic	1	1	10	2
MUT:GLA:Ser238Asn	PROT:P06280	GLA	S	238	N	S238N	Pathogenic/Likely pathogenic	1	2	10	1
MUT:GLA:Ser247Cys	PROT:P06280	GLA	S	247	C	S247C	Likely pathogenic	1	1	10	7
MUT:GLA:Ser247Pro	PROT:P06280	GLA	S	247	P	S247P	Pathogenic	1	1	10	7
MUT:GLA:Ser276Arg	PROT:P06280	GLA	S	276	R	S276R	Likely pathogenic	1	1	10	32
MUT:GLA:Ser276Asn	PROT:P06280	GLA	S	276	N	S276N	Pathogenic	1	1	10	32
MUT:GLA:Ser276Gly	PROT:P06280	GLA	S	276	G	S276G	Pathogenic	1	1	10	32
MUT:GLA:Ser276Thr	PROT:P06280	GLA	S	276	T	S276T	Likely pathogenic	1	1	10	32
MUT:GLA:Ser297Phe	PROT:P06280	GLA	S	297	F	S297F	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Ser297Pro	PROT:P06280	GLA	S	297	P	S297P	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Ser297Tyr	PROT:P06280	GLA	S	297	Y	S297Y	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Ser345Pro	PROT:P06280	GLA	S	345	P	S345P	Pathogenic	1	1	10	19
MUT:GLA:Ser65Ile	PROT:P06280	GLA	S	65	I	S65I	Pathogenic	1	3	10	42
MUT:GLA:Ser65Thr	PROT:P06280	GLA	S	65	T	S65T	Likely pathogenic	1	1	10	42
MUT:GLA:Thr141Asn	PROT:P06280	GLA	T	141	N	T141N	Likely pathogenic	1	1	10	14
MUT:GLA:Thr141Ile	PROT:P06280	GLA	T	141	I	T141I	Pathogenic/Likely pathogenic	1	1	10	14
MUT:GLA:Thr194Asn	PROT:P06280	GLA	T	194	N	T194N	Likely pathogenic	1	1	10	43
MUT:GLA:Thr194Ile	PROT:P06280	GLA	T	194	I	T194I	Pathogenic/Likely pathogenic	1	1	10	43
MUT:GLA:Thr246Ile	PROT:P06280	GLA	T	246	I	T246I	Pathogenic	1	1	10	6
MUT:GLA:Thr282Ala	PROT:P06280	GLA	T	282	A	T282A	Likely pathogenic	1	1	10	26
MUT:GLA:Thr282Ile	PROT:P06280	GLA	T	282	I	T282I	Pathogenic	1	1	10	26
MUT:GLA:Thr282Pro	PROT:P06280	GLA	T	282	P	T282P	Likely pathogenic	1	1	10	26
MUT:GLA:Thr385Ala	PROT:P06280	GLA	T	385	A	T385A	Benign/Likely benign	0	1	10	6
MUT:GLA:Thr385Pro	PROT:P06280	GLA	T	385	P	T385P	Pathogenic	1	1	10	6
MUT:GLA:Thr39Arg	PROT:P06280	GLA	T	39	R	T39R	Likely pathogenic	1	1	10	16
MUT:GLA:Thr410Ala	PROT:P06280	GLA	T	410	A	T410A	Pathogenic	1	1	10	17
MUT:GLA:Thr410Ile	PROT:P06280	GLA	T	410	I	T410I	Pathogenic	1	1	10	17
MUT:GLA:Thr410Lys	PROT:P06280	GLA	T	410	K	T410K	Likely pathogenic	1	1	10	17
MUT:GLA:Thr410Pro	PROT:P06280	GLA	T	410	P	T410P	Pathogenic	1	1	10	17
MUT:GLA:Thr412Asn	PROT:P06280	GLA	T	412	N	T412N	Pathogenic	1	1	10	19
MUT:GLA:Thr412Ile	PROT:P06280	GLA	T	412	I	T412I	Pathogenic/Likely pathogenic	1	1	10	19
MUT:GLA:Thr412Pro	PROT:P06280	GLA	T	412	P	T412P	Likely pathogenic	1	1	10	19
MUT:GLA:Thr41Ile	PROT:P06280	GLA	T	41	I	T41I	Likely pathogenic	1	1	10	18
MUT:GLA:Trp162Arg	PROT:P06280	GLA	W	162	R	W162R	Pathogenic/Likely pathogenic	1	1	10	35
MUT:GLA:Trp162Cys	PROT:P06280	GLA	W	162	C	W162C	Pathogenic	1	1	10	35
MUT:GLA:Trp204Arg	PROT:P06280	GLA	W	204	R	W204R	Pathogenic/Likely pathogenic	1	2	10	33
MUT:GLA:Trp204Cys	PROT:P06280	GLA	W	204	C	W204C	Likely pathogenic	1	1	10	33
MUT:GLA:Trp226Arg	PROT:P06280	GLA	W	226	R	W226R	Pathogenic/Likely pathogenic	1	1	10	11
MUT:GLA:Trp226Cys	PROT:P06280	GLA	W	226	C	W226C	Pathogenic	1	1	10	11
MUT:GLA:Trp226Gly	PROT:P06280	GLA	W	226	G	W226G	Likely pathogenic	1	1	10	11
MUT:GLA:Trp236Arg	PROT:P06280	GLA	W	236	R	W236R	Pathogenic	1	1	10	1
MUT:GLA:Trp236Cys	PROT:P06280	GLA	W	236	C	W236C	Pathogenic	1	1	10	1
MUT:GLA:Trp236Leu	PROT:P06280	GLA	W	236	L	W236L	Pathogenic	1	1	10	1
MUT:GLA:Trp245Arg	PROT:P06280	GLA	W	245	R	W245R	Likely pathogenic	1	1	10	5
MUT:GLA:Trp262Arg	PROT:P06280	GLA	W	262	R	W262R	Pathogenic	1	2	10	22
MUT:GLA:Trp262Cys	PROT:P06280	GLA	W	262	C	W262C	Pathogenic	1	1	10	22
MUT:GLA:Trp262Leu	PROT:P06280	GLA	W	262	L	W262L	Pathogenic	1	1	10	22
MUT:GLA:Trp287Arg	PROT:P06280	GLA	W	287	R	W287R	Likely pathogenic	1	1	10	21
MUT:GLA:Trp287Cys	PROT:P06280	GLA	W	287	C	W287C	Pathogenic/Likely pathogenic	1	1	10	21
MUT:GLA:Trp287Gly	PROT:P06280	GLA	W	287	G	W287G	Likely pathogenic	1	1	10	21
MUT:GLA:Trp287Ser	PROT:P06280	GLA	W	287	S	W287S	Likely pathogenic	1	1	10	21
MUT:GLA:Trp340Arg	PROT:P06280	GLA	W	340	R	W340R	Pathogenic/Likely pathogenic	1	1	10	14
MUT:GLA:Trp340Ser	PROT:P06280	GLA	W	340	S	W340S	Pathogenic	1	1	10	14
MUT:GLA:Trp349Arg	PROT:P06280	GLA	W	349	R	W349R	Pathogenic/Likely pathogenic	1	1	10	22
MUT:GLA:Trp44Gly	PROT:P06280	GLA	W	44	G	W44G	Likely pathogenic	1	1	10	21
MUT:GLA:Trp47Arg	PROT:P06280	GLA	W	47	R	W47R	Pathogenic/Likely pathogenic	1	1	10	24
MUT:GLA:Trp47Gly	PROT:P06280	GLA	W	47	G	W47G	Pathogenic	1	1	10	24
MUT:GLA:Trp47Leu	PROT:P06280	GLA	W	47	L	W47L	Likely pathogenic	1	1	10	24
MUT:GLA:Trp81Arg	PROT:P06280	GLA	W	81	R	W81R	Likely pathogenic	1	1	10	46
MUT:GLA:Trp81Cys	PROT:P06280	GLA	W	81	C	W81C	Likely pathogenic	1	1	10	46
MUT:GLA:Trp81Ser	PROT:P06280	GLA	W	81	S	W81S	Pathogenic	1	1	10	46
MUT:GLA:Trp95Arg	PROT:P06280	GLA	W	95	R	W95R	Likely pathogenic	1	1	10	32
MUT:GLA:Trp95Gly	PROT:P06280	GLA	W	95	G	W95G	Likely pathogenic	1	1	10	32
MUT:GLA:Trp95Leu	PROT:P06280	GLA	W	95	L	W95L	Likely pathogenic	1	1	10	32
MUT:GLA:Trp95Ser	PROT:P06280	GLA	W	95	S	W95S	Pathogenic	1	1	10	32
MUT:GLA:Tyr134Cys	PROT:P06280	GLA	Y	134	C	Y134C	Likely pathogenic	1	1	10	7
MUT:GLA:Tyr134His	PROT:P06280	GLA	Y	134	H	Y134H	Pathogenic/Likely pathogenic	1	1	10	7
MUT:GLA:Tyr134Ser	PROT:P06280	GLA	Y	134	S	Y134S	Pathogenic	1	1	10	7
MUT:GLA:Tyr152Asp	PROT:P06280	GLA	Y	152	D	Y152D	Likely pathogenic	1	1	10	25
MUT:GLA:Tyr152Cys	PROT:P06280	GLA	Y	152	C	Y152C	Likely pathogenic	1	1	10	25
MUT:GLA:Tyr152His	PROT:P06280	GLA	Y	152	H	Y152H	Likely pathogenic	1	1	10	25
MUT:GLA:Tyr152Ser	PROT:P06280	GLA	Y	152	S	Y152S	Likely pathogenic	1	1	10	25
MUT:GLA:Tyr184Asn	PROT:P06280	GLA	Y	184	N	Y184N	Pathogenic	1	1	10	53
MUT:GLA:Tyr184Asp	PROT:P06280	GLA	Y	184	D	Y184D	Likely pathogenic	1	1	10	53
MUT:GLA:Tyr184Cys	PROT:P06280	GLA	Y	184	C	Y184C	Pathogenic	1	1	10	53
MUT:GLA:Tyr207Cys	PROT:P06280	GLA	Y	207	C	Y207C	Pathogenic	1	1	10	30
MUT:GLA:Tyr207Ser	PROT:P06280	GLA	Y	207	S	Y207S	Pathogenic/Likely pathogenic	1	1	10	30
MUT:GLA:Tyr216Asp	PROT:P06280	GLA	Y	216	D	Y216D	Pathogenic	1	1	10	21
MUT:GLA:Tyr216Cys	PROT:P06280	GLA	Y	216	C	Y216C	Pathogenic	1	1	10	21
MUT:GLA:Tyr222Asp	PROT:P06280	GLA	Y	222	D	Y222D	Pathogenic	1	1	10	15
MUT:GLA:Tyr86Asp	PROT:P06280	GLA	Y	86	D	Y86D	Likely pathogenic	1	1	10	41
MUT:GLA:Tyr86Cys	PROT:P06280	GLA	Y	86	C	Y86C	Pathogenic	1	2	10	41
MUT:GLA:Tyr86His	PROT:P06280	GLA	Y	86	H	Y86H	Pathogenic	1	2	10	41
MUT:GLA:Tyr86Phe	PROT:P06280	GLA	Y	86	F	Y86F	Likely pathogenic	1	1	10	41
MUT:GLA:Tyr88Asp	PROT:P06280	GLA	Y	88	D	Y88D	Likely pathogenic	1	1	10	39
MUT:GLA:Tyr88Cys	PROT:P06280	GLA	Y	88	C	Y88C	Pathogenic	1	1	10	39
MUT:GLA:Val124Asp	PROT:P06280	GLA	V	124	D	V124D	Likely pathogenic	1	1	10	3
MUT:GLA:Val124Gly	PROT:P06280	GLA	V	124	G	V124G	Likely pathogenic	1	1	10	3
MUT:GLA:Val164Gly	PROT:P06280	GLA	V	164	G	V164G	Pathogenic	1	1	10	37
MUT:GLA:Val269Ala	PROT:P06280	GLA	V	269	A	V269A	Pathogenic	1	1	10	29
MUT:GLA:Val269Gly	PROT:P06280	GLA	V	269	G	V269G	Pathogenic	1	2	10	29
MUT:GLA:Val269Leu	PROT:P06280	GLA	V	269	L	V269L	Likely pathogenic	1	1	10	29
MUT:GLA:Val269Met	PROT:P06280	GLA	V	269	M	V269M	Pathogenic	1	1	10	29
MUT:GLA:Val316Glu	PROT:P06280	GLA	V	316	E	V316E	Pathogenic	1	1	10	2
MUT:GLA:Val316Gly	PROT:P06280	GLA	V	316	G	V316G	Likely pathogenic	1	1	10	2
MUT:GLA:Val339Gly	PROT:P06280	GLA	V	339	G	V339G	Likely pathogenic	1	1	10	13
MUT:GLA:Val390Met	PROT:P06280	GLA	V	390	M	V390M	Likely pathogenic	1	1	10	1
MUT:GLDC:Ala202Gly	PROT:P23378	GLDC	A	202	G	A202G	Likely pathogenic	1	1	18	70
MUT:GLDC:Ala202Val	PROT:P23378	GLDC	A	202	V	A202V	Pathogenic	1	1	18	70
MUT:GLDC:Ala283Gly	PROT:P23378	GLDC	A	283	G	A283G	Likely pathogenic	1	1	18	11
MUT:GLDC:Ala283Pro	PROT:P23378	GLDC	A	283	P	A283P	Pathogenic	1	2	18	11
MUT:GLDC:Ala389Val	PROT:P23378	GLDC	A	389	V	A389V	Pathogenic	1	2	18	31
MUT:GLDC:Ala569Thr	PROT:P23378	GLDC	A	569	T	A569T	Benign/Likely benign	0	1	18	25
MUT:GLDC:Ala694Pro	PROT:P23378	GLDC	A	694	P	A694P	Likely pathogenic	1	1	18	22
MUT:GLDC:Ala729Glu	PROT:P23378	GLDC	A	729	E	A729E	Likely pathogenic	1	1	18	44
MUT:GLDC:Ala733Asp	PROT:P23378	GLDC	A	733	D	A733D	Likely pathogenic	1	2	18	40
MUT:GLDC:Ala733Ser	PROT:P23378	GLDC	A	733	S	A733S	Likely pathogenic	1	1	18	40
MUT:GLDC:Ala733Thr	PROT:P23378	GLDC	A	733	T	A733T	Likely pathogenic	1	1	18	40
MUT:GLDC:Ala794Thr	PROT:P23378	GLDC	A	794	T	A794T	Benign/Likely benign	0	1	18	5
MUT:GLDC:Ala802Val	PROT:P23378	GLDC	A	802	V	A802V	Pathogenic	1	2	18	13
MUT:GLDC:Ala803Val	PROT:P23378	GLDC	A	803	V	A803V	Pathogenic	1	1	18	14
MUT:GLDC:Ala833Val	PROT:P23378	GLDC	A	833	V	A833V	Pathogenic/Likely pathogenic	1	2	18	6
MUT:GLDC:Ala841Pro	PROT:P23378	GLDC	A	841	P	A841P	Pathogenic	1	1	18	2
MUT:GLDC:Arg224His	PROT:P23378	GLDC	R	224	H	R224H	Benign/Likely benign	0	2	18	48
MUT:GLDC:Arg236Gln	PROT:P23378	GLDC	R	236	Q	R236Q	Likely pathogenic	1	1	18	36
MUT:GLDC:Arg347Lys	PROT:P23378	GLDC	R	347	K	R347K	Likely pathogenic	1	1	18	11
MUT:GLDC:Arg347Ser	PROT:P23378	GLDC	R	347	S	R347S	Pathogenic	1	1	18	11
MUT:GLDC:Arg362Cys	PROT:P23378	GLDC	R	362	C	R362C	Pathogenic/Likely pathogenic	1	2	18	4
MUT:GLDC:Arg373Gln	PROT:P23378	GLDC	R	373	Q	R373Q	Pathogenic/Likely pathogenic	1	1	18	15
MUT:GLDC:Arg373Pro	PROT:P23378	GLDC	R	373	P	R373P	Likely pathogenic	1	1	18	15
MUT:GLDC:Arg373Trp	PROT:P23378	GLDC	R	373	W	R373W	Pathogenic/Likely pathogenic	1	2	18	15
MUT:GLDC:Arg461Gln	PROT:P23378	GLDC	R	461	Q	R461Q	Pathogenic	1	3	18	14
MUT:GLDC:Arg461Trp	PROT:P23378	GLDC	R	461	W	R461W	Pathogenic/Likely pathogenic	1	2	18	14
MUT:GLDC:Arg515Ser	PROT:P23378	GLDC	R	515	S	R515S	Pathogenic	1	3	18	1
MUT:GLDC:Arg536Gln	PROT:P23378	GLDC	R	536	Q	R536Q	Pathogenic/Likely pathogenic	1	2	18	8
MUT:GLDC:Arg536Trp	PROT:P23378	GLDC	R	536	W	R536W	Pathogenic/Likely pathogenic	1	2	18	8
MUT:GLDC:Arg596Gln	PROT:P23378	GLDC	R	596	Q	R596Q	Likely benign	0	1	18	40
MUT:GLDC:Arg630Pro	PROT:P23378	GLDC	R	630	P	R630P	Pathogenic/Likely pathogenic	1	2	18	6
MUT:GLDC:Arg739Cys	PROT:P23378	GLDC	R	739	C	R739C	Likely pathogenic	1	2	18	34
MUT:GLDC:Arg739His	PROT:P23378	GLDC	R	739	H	R739H	Pathogenic/Likely pathogenic	1	2	18	34
MUT:GLDC:Arg962Gln	PROT:P23378	GLDC	R	962	Q	R962Q	Likely pathogenic	1	2	18	79
MUT:GLDC:Arg962Pro	PROT:P23378	GLDC	R	962	P	R962P	Pathogenic	1	1	18	79
MUT:GLDC:Arg962Trp	PROT:P23378	GLDC	R	962	W	R962W	Likely pathogenic	1	1	18	79
MUT:GLDC:Arg966Gly	PROT:P23378	GLDC	R	966	G	R966G	Likely pathogenic	1	1	18	83
MUT:GLDC:Arg988Gln	PROT:P23378	GLDC	R	988	Q	R988Q	Pathogenic/Likely pathogenic	1	2	18	105
MUT:GLDC:Arg988Gly	PROT:P23378	GLDC	R	988	G	R988G	Likely pathogenic	1	1	18	105
MUT:GLDC:Arg988Trp	PROT:P23378	GLDC	R	988	W	R988W	Pathogenic/Likely pathogenic	1	2	18	105
MUT:GLDC:Asn150Lys	PROT:P23378	GLDC	N	150	K	N150K	Pathogenic/Likely pathogenic	1	1	18	111
MUT:GLDC:Asn150Ser	PROT:P23378	GLDC	N	150	S	N150S	Likely pathogenic	1	1	18	111
MUT:GLDC:Asn150Thr	PROT:P23378	GLDC	N	150	T	N150T	Likely pathogenic	1	1	18	111
MUT:GLDC:Asn533Tyr	PROT:P23378	GLDC	N	533	Y	N533Y	Likely pathogenic	1	1	18	11
MUT:GLDC:Asn616Ile	PROT:P23378	GLDC	N	616	I	N616I	Likely pathogenic	1	1	18	20
MUT:GLDC:Asn675Thr	PROT:P23378	GLDC	N	675	T	N675T	Likely benign	0	1	18	3
MUT:GLDC:Asp198Glu	PROT:P23378	GLDC	D	198	E	D198E	Likely pathogenic	1	1	18	74
MUT:GLDC:Asp483Asn	PROT:P23378	GLDC	D	483	N	D483N	Likely benign	0	1	18	31
MUT:GLDC:Asp746Asn	PROT:P23378	GLDC	D	746	N	D746N	Likely pathogenic	1	1	18	27
MUT:GLDC:Asp746Glu	PROT:P23378	GLDC	D	746	E	D746E	Pathogenic	1	2	18	27
MUT:GLDC:Asp746Tyr	PROT:P23378	GLDC	D	746	Y	D746Y	Likely pathogenic	1	1	18	27
MUT:GLDC:Asp866His	PROT:P23378	GLDC	D	866	H	D866H	Pathogenic	1	1	18	5
MUT:GLDC:Asp880Ala	PROT:P23378	GLDC	D	880	A	D880A	Likely pathogenic	1	1	18	3
MUT:GLDC:Asp995Asn	PROT:P23378	GLDC	D	995	N	D995N	Likely pathogenic	1	2	18	112
MUT:GLDC:Cys291Gly	PROT:P23378	GLDC	C	291	G	C291G	Benign/Likely benign	0	1	18	19
MUT:GLDC:Cys291Tyr	PROT:P23378	GLDC	C	291	Y	C291Y	Pathogenic	1	1	18	19
MUT:GLDC:Cys382Ser	PROT:P23378	GLDC	C	382	S	C382S	Likely pathogenic	1	1	18	24
MUT:GLDC:Cys382Tyr	PROT:P23378	GLDC	C	382	Y	C382Y	Pathogenic/Likely pathogenic	1	2	18	24
MUT:GLDC:Cys444Tyr	PROT:P23378	GLDC	C	444	Y	C444Y	Likely benign	0	1	18	3
MUT:GLDC:Cys644Phe	PROT:P23378	GLDC	C	644	F	C644F	Likely pathogenic	1	1	18	8
MUT:GLDC:Cys644Tyr	PROT:P23378	GLDC	C	644	Y	C644Y	Pathogenic/Likely pathogenic	1	1	18	8
MUT:GLDC:Cys714Ser	PROT:P23378	GLDC	C	714	S	C714S	Likely pathogenic	1	1	18	42
MUT:GLDC:Gln366Arg	PROT:P23378	GLDC	Q	366	R	Q366R	Pathogenic	1	1	18	8
MUT:GLDC:Gln370Lys	PROT:P23378	GLDC	Q	370	K	Q370K	Pathogenic	1	1	18	12
MUT:GLDC:Glu503Ala	PROT:P23378	GLDC	E	503	A	E503A	Benign/Likely benign	0	1	18	11
MUT:GLDC:Glu967Asp	PROT:P23378	GLDC	E	967	D	E967D	Likely pathogenic	1	2	18	84
MUT:GLDC:Gly156Arg	PROT:P23378	GLDC	G	156	R	G156R	Pathogenic	1	1	18	116
MUT:GLDC:Gly156Glu	PROT:P23378	GLDC	G	156	E	G156E	Likely pathogenic	1	1	18	116
MUT:GLDC:Gly315Ser	PROT:P23378	GLDC	G	315	S	G315S	Likely pathogenic	1	1	18	43
MUT:GLDC:Gly421Arg	PROT:P23378	GLDC	G	421	R	G421R	Likely pathogenic	1	1	18	26
MUT:GLDC:Gly469Arg	PROT:P23378	GLDC	G	469	R	G469R	Likely pathogenic	1	1	18	22
MUT:GLDC:Gly607Ser	PROT:P23378	GLDC	G	607	S	G607S	Pathogenic	1	2	18	29
MUT:GLDC:Gly618Arg	PROT:P23378	GLDC	G	618	R	G618R	Pathogenic/Likely pathogenic	1	3	18	18
MUT:GLDC:Gly728Arg	PROT:P23378	GLDC	G	728	R	G728R	Likely pathogenic	1	2	18	45
MUT:GLDC:Gly728Glu	PROT:P23378	GLDC	G	728	E	G728E	Pathogenic	1	1	18	45
MUT:GLDC:Gly761Arg	PROT:P23378	GLDC	G	761	R	G761R	Pathogenic	1	2	18	12
MUT:GLDC:Gly762Arg	PROT:P23378	GLDC	G	762	R	G762R	Likely pathogenic	1	1	18	11
MUT:GLDC:Gly763Asp	PROT:P23378	GLDC	G	763	D	G763D	Pathogenic	1	1	18	10
MUT:GLDC:Gly763Cys	PROT:P23378	GLDC	G	763	C	G763C	Likely pathogenic	1	1	18	10
MUT:GLDC:Gly766Val	PROT:P23378	GLDC	G	766	V	G766V	Likely pathogenic	1	2	18	7
MUT:GLDC:Gly768Ala	PROT:P23378	GLDC	G	768	A	G768A	Likely pathogenic	1	1	18	5
MUT:GLDC:Gly771Arg	PROT:P23378	GLDC	G	771	R	G771R	Pathogenic	1	2	18	2
MUT:GLDC:Gly860Arg	PROT:P23378	GLDC	G	860	R	G860R	Pathogenic/Likely pathogenic	1	2	18	11
MUT:GLDC:Gly889Val	PROT:P23378	GLDC	G	889	V	G889V	Pathogenic	1	1	18	6
MUT:GLDC:His284Asn	PROT:P23378	GLDC	H	284	N	H284N	Likely pathogenic	1	1	18	12
MUT:GLDC:His284Asp	PROT:P23378	GLDC	H	284	D	H284D	Likely pathogenic	1	1	18	12
MUT:GLDC:His371Asp	PROT:P23378	GLDC	H	371	D	H371D	Likely pathogenic	1	1	18	13
MUT:GLDC:His580Gln	PROT:P23378	GLDC	H	580	Q	H580Q	Likely pathogenic	1	1	18	36
MUT:GLDC:His651Arg	PROT:P23378	GLDC	H	651	R	H651R	Pathogenic/Likely pathogenic	1	1	18	15
MUT:GLDC:His651Asp	PROT:P23378	GLDC	H	651	D	H651D	Likely pathogenic	1	1	18	15
MUT:GLDC:His753Pro	PROT:P23378	GLDC	H	753	P	H753P	Likely pathogenic	1	1	18	20
MUT:GLDC:His760Leu	PROT:P23378	GLDC	H	760	L	H760L	Likely pathogenic	1	1	18	13
MUT:GLDC:His775Arg	PROT:P23378	GLDC	H	775	R	H775R	Pathogenic/Likely pathogenic	1	1	18	1
MUT:GLDC:His775Pro	PROT:P23378	GLDC	H	775	P	H775P	Likely pathogenic	1	1	18	1
MUT:GLDC:His775Tyr	PROT:P23378	GLDC	H	775	Y	H775Y	Pathogenic	1	1	18	1
MUT:GLDC:His950Arg	PROT:P23378	GLDC	H	950	R	H950R	Likely pathogenic	1	2	18	67
MUT:GLDC:Ile312Val	PROT:P23378	GLDC	I	312	V	I312V	Likely benign	0	1	18	40
MUT:GLDC:Ile440Asn	PROT:P23378	GLDC	I	440	N	I440N	Likely pathogenic	1	1	18	7
MUT:GLDC:Leu296Arg	PROT:P23378	GLDC	L	296	R	L296R	Likely pathogenic	1	1	18	24
MUT:GLDC:Leu462Val	PROT:P23378	GLDC	L	462	V	L462V	Benign	0	1	18	15
MUT:GLDC:Leu548Val	PROT:P23378	GLDC	L	548	V	L548V	Likely pathogenic	1	2	18	4
MUT:GLDC:Leu716Phe	PROT:P23378	GLDC	L	716	F	L716F	Likely pathogenic	1	1	18	44
MUT:GLDC:Leu726Gln	PROT:P23378	GLDC	L	726	Q	L726Q	Pathogenic	1	1	18	47
MUT:GLDC:Leu82Ser	PROT:P23378	GLDC	L	82	S	L82S	Pathogenic/Likely pathogenic	1	2	18	43
MUT:GLDC:Leu82Trp	PROT:P23378	GLDC	L	82	W	L82W	Pathogenic	1	1	18	43
MUT:GLDC:Leu885Pro	PROT:P23378	GLDC	L	885	P	L885P	Pathogenic/Likely pathogenic	1	1	18	2
MUT:GLDC:Lys376Glu	PROT:P23378	GLDC	K	376	E	K376E	Likely pathogenic	1	1	18	18
MUT:GLDC:Lys376Thr	PROT:P23378	GLDC	K	376	T	K376T	Likely pathogenic	1	1	18	18
MUT:GLDC:Lys439Asn	PROT:P23378	GLDC	K	439	N	K439N	Pathogenic/Likely pathogenic	1	1	18	8
MUT:GLDC:Lys819Glu	PROT:P23378	GLDC	K	819	E	K819E	Pathogenic	1	1	18	20
MUT:GLDC:Met1Lys	PROT:P23378	GLDC	M	1	K	M1K	Pathogenic	1	1	18	37
MUT:GLDC:Met1Thr	PROT:P23378	GLDC	M	1	T	M1T	Pathogenic	1	2	18	37
MUT:GLDC:Met560Thr	PROT:P23378	GLDC	M	560	T	M560T	Pathogenic	1	1	18	16
MUT:GLDC:Met560Val	PROT:P23378	GLDC	M	560	V	M560V	Pathogenic/Likely pathogenic	1	1	18	16
MUT:GLDC:Phe395Leu	PROT:P23378	GLDC	F	395	L	F395L	Pathogenic	1	2	18	37
MUT:GLDC:Phe919Ile	PROT:P23378	GLDC	F	919	I	F919I	Pathogenic	1	1	18	36
MUT:GLDC:Phe919Val	PROT:P23378	GLDC	F	919	V	F919V	Likely pathogenic	1	1	18	36
MUT:GLDC:Pro104Thr	PROT:P23378	GLDC	P	104	T	P104T	Likely benign	0	1	18	65
MUT:GLDC:Pro223Arg	PROT:P23378	GLDC	P	223	R	P223R	Likely benign	0	2	18	49
MUT:GLDC:Pro267Ala	PROT:P23378	GLDC	P	267	A	P267A	Pathogenic/Likely pathogenic	1	2	18	5
MUT:GLDC:Pro267Leu	PROT:P23378	GLDC	P	267	L	P267L	Pathogenic/Likely pathogenic	1	2	18	5
MUT:GLDC:Pro304Gln	PROT:P23378	GLDC	P	304	Q	P304Q	Likely pathogenic	1	1	18	32
MUT:GLDC:Pro304Leu	PROT:P23378	GLDC	P	304	L	P304L	Pathogenic/Likely pathogenic	1	2	18	32
MUT:GLDC:Pro581Arg	PROT:P23378	GLDC	P	581	R	P581R	Pathogenic/Likely pathogenic	1	2	18	37
MUT:GLDC:Pro615Leu	PROT:P23378	GLDC	P	615	L	P615L	Likely pathogenic	1	1	18	21
MUT:GLDC:Pro615Thr	PROT:P23378	GLDC	P	615	T	P615T	Likely pathogenic	1	1	18	21
MUT:GLDC:Pro647Arg	PROT:P23378	GLDC	P	647	R	P647R	Likely pathogenic	1	1	18	11
MUT:GLDC:Pro700Ala	PROT:P23378	GLDC	P	700	A	P700A	Likely pathogenic	1	1	18	28
MUT:GLDC:Pro759Arg	PROT:P23378	GLDC	P	759	R	P759R	Likely pathogenic	1	1	18	14
MUT:GLDC:Pro769Arg	PROT:P23378	GLDC	P	769	R	P769R	Likely pathogenic	1	1	18	4
MUT:GLDC:Pro769Leu	PROT:P23378	GLDC	P	769	L	P769L	Likely pathogenic	1	1	18	4
MUT:GLDC:Pro893Leu	PROT:P23378	GLDC	P	893	L	P893L	Pathogenic/Likely pathogenic	1	1	18	10
MUT:GLDC:Pro893Ser	PROT:P23378	GLDC	P	893	S	P893S	Likely pathogenic	1	1	18	10
MUT:GLDC:Pro907Leu	PROT:P23378	GLDC	P	907	L	P907L	Pathogenic	1	1	18	24
MUT:GLDC:Pro949Leu	PROT:P23378	GLDC	P	949	L	P949L	Likely pathogenic	1	1	18	66
MUT:GLDC:Ser132Leu	PROT:P23378	GLDC	S	132	L	S132L	Pathogenic	1	2	18	93
MUT:GLDC:Ser132Trp	PROT:P23378	GLDC	S	132	W	S132W	Likely pathogenic	1	2	18	93
MUT:GLDC:Ser339Asn	PROT:P23378	GLDC	S	339	N	S339N	Likely benign	0	1	18	19
MUT:GLDC:Ser471Pro	PROT:P23378	GLDC	S	471	P	S471P	Pathogenic	1	1	18	24
MUT:GLDC:Ser527Thr	PROT:P23378	GLDC	S	527	T	S527T	Pathogenic	1	1	18	13
MUT:GLDC:Ser551Asn	PROT:P23378	GLDC	S	551	N	S551N	Likely pathogenic	1	1	18	7
MUT:GLDC:Ser551Ile	PROT:P23378	GLDC	S	551	I	S551I	Pathogenic/Likely pathogenic	1	2	18	7
MUT:GLDC:Ser564Ile	PROT:P23378	GLDC	S	564	I	S564I	Pathogenic/Likely pathogenic	1	2	18	20
MUT:GLDC:Ser657Asn	PROT:P23378	GLDC	S	657	N	S657N	Pathogenic	1	2	18	15
MUT:GLDC:Ser814Phe	PROT:P23378	GLDC	S	814	F	S814F	Likely pathogenic	1	1	18	25
MUT:GLDC:Thr1001Asn	PROT:P23378	GLDC	T	1001	N	T1001N	Likely benign	0	1	18	118
MUT:GLDC:Thr187Lys	PROT:P23378	GLDC	T	187	K	T187K	Likely pathogenic	1	1	18	85
MUT:GLDC:Thr269Met	PROT:P23378	GLDC	T	269	M	T269M	Pathogenic	1	2	18	3
MUT:GLDC:Thr352Arg	PROT:P23378	GLDC	T	352	R	T352R	Likely pathogenic	1	1	18	6
MUT:GLDC:Thr352Ile	PROT:P23378	GLDC	T	352	I	T352I	Likely pathogenic	1	1	18	6
MUT:GLDC:Thr559Asn	PROT:P23378	GLDC	T	559	N	T559N	Likely pathogenic	1	2	18	15
MUT:GLDC:Thr698Ala	PROT:P23378	GLDC	T	698	A	T698A	Likely pathogenic	1	1	18	26
MUT:GLDC:Thr702Ile	PROT:P23378	GLDC	T	702	I	T702I	Likely pathogenic	1	1	18	30
MUT:GLDC:Thr830Met	PROT:P23378	GLDC	T	830	M	T830M	Pathogenic/Likely pathogenic	1	1	18	9
MUT:GLDC:Thr894Ala	PROT:P23378	GLDC	T	894	A	T894A	Pathogenic/Likely pathogenic	1	1	18	11
MUT:GLDC:Trp897Cys	PROT:P23378	GLDC	W	897	C	W897C	Likely pathogenic	1	1	18	14
MUT:GLDC:Trp960Cys	PROT:P23378	GLDC	W	960	C	W960C	Pathogenic	1	1	18	77
MUT:GLDC:Tyr138Phe	PROT:P23378	GLDC	Y	138	F	Y138F	Likely pathogenic	1	1	18	99
MUT:GLDC:Tyr161Cys	PROT:P23378	GLDC	Y	161	C	Y161C	Pathogenic/Likely pathogenic	1	2	18	111
MUT:GLDC:Tyr164His	PROT:P23378	GLDC	Y	164	H	Y164H	Pathogenic	1	1	18	108
MUT:GLDC:Tyr266Asp	PROT:P23378	GLDC	Y	266	D	Y266D	Likely pathogenic	1	1	18	6
MUT:GLDC:Tyr608Asp	PROT:P23378	GLDC	Y	608	D	Y608D	Pathogenic	1	1	18	28
MUT:GLDC:Val512Leu	PROT:P23378	GLDC	V	512	L	V512L	Likely benign	0	1	18	2
MUT:GLDC:Val735Leu	PROT:P23378	GLDC	V	735	L	V735L	Benign/Likely benign	0	6	18	38
MUT:GLDC:Val905Gly	PROT:P23378	GLDC	V	905	G	V905G	Pathogenic/Likely pathogenic	1	2	18	22
MUT:GLE1:Arg188Gln	PROT:Q53GS7	GLE1	R	188	Q	R188Q	Likely benign	0	1	31	5
MUT:GLE1:Arg569His	PROT:Q53GS7	GLE1	R	569	H	R569H	Pathogenic/Likely pathogenic	1	4	31	1
MUT:GLE1:Arg584Trp	PROT:Q53GS7	GLE1	R	584	W	R584W	Likely pathogenic	1	2	31	16
MUT:GLE1:Cys39Tyr	PROT:Q53GS7	GLE1	C	39	Y	C39Y	Likely benign	0	3	31	2
MUT:GLE1:Glu334Lys	PROT:Q53GS7	GLE1	E	334	K	E334K	Benign/Likely benign	0	3	31	27
MUT:GLE1:Gly461Arg	PROT:Q53GS7	GLE1	G	461	R	G461R	Likely pathogenic	1	1	31	6
MUT:GLE1:Gly597Asp	PROT:Q53GS7	GLE1	G	597	D	G597D	Likely pathogenic	1	1	31	29
MUT:GLE1:Ile243Val	PROT:Q53GS7	GLE1	I	243	V	I243V	Benign	0	3	31	5
MUT:GLE1:Ile684Thr	PROT:Q53GS7	GLE1	I	684	T	I684T	Pathogenic	1	2	31	2
MUT:GLE1:Met1Val	PROT:Q53GS7	GLE1	M	1	V	M1V	Likely pathogenic	1	1	31	40
MUT:GLE1:Pro595His	PROT:Q53GS7	GLE1	P	595	H	P595H	Likely pathogenic	1	1	31	27
MUT:GLE1:Ser70Leu	PROT:Q53GS7	GLE1	S	70	L	S70L	Likely benign	0	1	31	18
MUT:GLE1:Tyr302Cys	PROT:Q53GS7	GLE1	Y	302	C	Y302C	Likely benign	0	1	31	1
MUT:GLE1:Val617Met	PROT:Q53GS7	GLE1	V	617	M	V617M	Pathogenic	1	2	31	49
MUT:GLI1:Arg1068Trp	PROT:P08151	GLI1	R	1068	W	R1068W	Likely benign	0	1	19	3
MUT:GLI1:Arg405Gln	PROT:P08151	GLI1	R	405	Q	R405Q	Benign	0	1	19	3
MUT:GLI1:Arg510Trp	PROT:P08151	GLI1	R	510	W	R510W	Likely benign	0	1	19	8
MUT:GLI1:Cys338Phe	PROT:P08151	GLI1	C	338	F	C338F	Pathogenic	1	1	19	19
MUT:GLI1:Glu1100Gln	PROT:P08151	GLI1	E	1100	Q	E1100Q	Benign	0	2	19	11
MUT:GLI1:Gly1012Val	PROT:P08151	GLI1	G	1012	V	G1012V	Benign	0	1	19	59
MUT:GLI1:Gly933Asp	PROT:P08151	GLI1	G	933	D	G933D	Benign	0	3	19	4
MUT:GLI1:Pro168Arg	PROT:P08151	GLI1	P	168	R	P168R	Benign	0	1	19	33
MUT:GLI1:Ser105Tyr	PROT:P08151	GLI1	S	105	Y	S105Y	Likely benign	0	1	19	3
MUT:GLIS2:Ala75Ser	PROT:Q9BZE0	GLIS2	A	75	S	A75S	Benign	0	3	6	21
MUT:GLIS2:Gly139Arg	PROT:Q9BZE0	GLIS2	G	139	R	G139R	Benign/Likely benign	0	3	6	20
MUT:GLIS2:Pro337Leu	PROT:Q9BZE0	GLIS2	P	337	L	P337L	Benign/Likely benign	0	2	6	82
MUT:GLIS2:Pro420Leu	PROT:Q9BZE0	GLIS2	P	420	L	P420L	Benign/Likely benign	0	2	6	1
MUT:GLIS2:Ser471Arg	PROT:Q9BZE0	GLIS2	S	471	R	S471R	Likely benign	0	3	6	8
MUT:GLIS2:Thr492Ala	PROT:Q9BZE0	GLIS2	T	492	A	T492A	Benign	0	2	6	29
MUT:GLRA1:Ala385Thr	PROT:P23415	GLRA1	A	385	T	A385T	Likely benign	0	1	6	23
MUT:GLRA1:Arg100Cys	PROT:P23415	GLRA1	R	100	C	R100C	Pathogenic	1	1	6	48
MUT:GLRA1:Arg100His	PROT:P23415	GLRA1	R	100	H	R100H	Likely pathogenic	1	3	6	48
MUT:GLRA1:Arg100Ser	PROT:P23415	GLRA1	R	100	S	R100S	Likely pathogenic	1	1	6	48
MUT:GLRA1:Arg241Gln	PROT:P23415	GLRA1	R	241	Q	R241Q	Benign	0	2	6	5
MUT:GLRA1:Arg246Gln	PROT:P23415	GLRA1	R	246	Q	R246Q	Pathogenic	1	2	6	10
MUT:GLRA1:Arg246Trp	PROT:P23415	GLRA1	R	246	W	R246W	Pathogenic/Likely pathogenic	1	2	6	10
MUT:GLRA1:Arg280His	PROT:P23415	GLRA1	R	280	H	R280H	Pathogenic/Likely pathogenic	1	2	6	27
MUT:GLRA1:Arg299Gln	PROT:P23415	GLRA1	R	299	Q	R299Q	Pathogenic	1	2	6	8
MUT:GLRA1:Arg299Leu	PROT:P23415	GLRA1	R	299	L	R299L	Pathogenic/Likely pathogenic	1	2	6	8
MUT:GLRA1:Arg349Gln	PROT:P23415	GLRA1	R	349	Q	R349Q	Benign/Likely benign	0	2	6	25
MUT:GLRA1:Arg405Gln	PROT:P23415	GLRA1	R	405	Q	R405Q	Benign/Likely benign	0	2	6	3
MUT:GLRA1:Arg420Cys	PROT:P23415	GLRA1	R	420	C	R420C	Likely pathogenic	1	1	6	7
MUT:GLRA1:Arg420His	PROT:P23415	GLRA1	R	420	H	R420H	Pathogenic/Likely pathogenic	1	1	6	7
MUT:GLRA1:Arg8Pro	PROT:P23415	GLRA1	R	8	P	R8P	Benign/Likely benign	0	2	6	44
MUT:GLRA1:Arg93Leu	PROT:P23415	GLRA1	R	93	L	R93L	Pathogenic	1	1	6	41
MUT:GLRA1:Arg93Trp	PROT:P23415	GLRA1	R	93	W	R93W	Pathogenic/Likely pathogenic	1	2	6	41
MUT:GLRA1:Asp416Asn	PROT:P23415	GLRA1	D	416	N	D416N	Likely pathogenic	1	1	6	8
MUT:GLRA1:Asp98Asn	PROT:P23415	GLRA1	D	98	N	D98N	Pathogenic	1	1	6	46
MUT:GLRA1:Cys69Tyr	PROT:P23415	GLRA1	C	69	Y	C69Y	Likely pathogenic	1	1	6	17
MUT:GLRA1:Gln294His	PROT:P23415	GLRA1	Q	294	H	Q294H	Pathogenic	1	1	6	13
MUT:GLRA1:Glu341Gly	PROT:P23415	GLRA1	E	341	G	E341G	Likely benign	0	1	6	17
MUT:GLRA1:Gly370Ser	PROT:P23415	GLRA1	G	370	S	G370S	Benign/Likely benign	0	3	6	38
MUT:GLRA1:Ile272Asn	PROT:P23415	GLRA1	I	272	N	I272N	Pathogenic	1	1	6	35
MUT:GLRA1:Leu113Pro	PROT:P23415	GLRA1	L	113	P	L113P	Likely pathogenic	1	1	6	61
MUT:GLRA1:Lys304Gln	PROT:P23415	GLRA1	K	304	Q	K304Q	Pathogenic	1	1	6	3
MUT:GLRA1:Lys304Glu	PROT:P23415	GLRA1	K	304	E	K304E	Pathogenic	1	1	6	3
MUT:GLRA1:Met168Arg	PROT:P23415	GLRA1	M	168	R	M168R	Likely pathogenic	1	1	6	68
MUT:GLRA1:Pro278Thr	PROT:P23415	GLRA1	P	278	T	P278T	Pathogenic	1	1	6	29
MUT:GLRA1:Pro394Leu	PROT:P23415	GLRA1	P	394	L	P394L	Benign	0	3	6	14
MUT:GLRA1:Ser259Arg	PROT:P23415	GLRA1	S	259	R	S259R	Pathogenic	1	1	6	23
MUT:GLRA1:Ser295Asn	PROT:P23415	GLRA1	S	295	N	S295N	Pathogenic	1	1	6	12
MUT:GLRA1:Ser298Thr	PROT:P23415	GLRA1	S	298	T	S298T	Pathogenic	1	1	6	9
MUT:GLRA1:Thr190Met	PROT:P23415	GLRA1	T	190	M	T190M	Pathogenic/Likely pathogenic	1	2	6	46
MUT:GLRA1:Thr287Ala	PROT:P23415	GLRA1	T	287	A	T287A	Likely pathogenic	1	1	6	20
MUT:GLRA1:Trp267Cys	PROT:P23415	GLRA1	W	267	C	W267C	Pathogenic	1	2	6	31
MUT:GLRA1:Tyr307Cys	PROT:P23415	GLRA1	Y	307	C	Y307C	Pathogenic	1	2	6	0
MUT:GLRA1:Tyr307Ser	PROT:P23415	GLRA1	Y	307	S	Y307S	Pathogenic	1	1	6	0
MUT:GLRA2:Ala337Val	PROT:P23416	GLRA2	A	337	V	A337V	Likely benign	0	1	5	55
MUT:GLRA2:Ala391Val	PROT:P23416	GLRA2	A	391	V	A391V	Likely benign	0	1	5	1
MUT:GLRA2:Arg153Gln	PROT:P23416	GLRA2	R	153	Q	R153Q	Pathogenic	1	1	5	14
MUT:GLRA2:Arg165Thr	PROT:P23416	GLRA2	R	165	T	R165T	Likely pathogenic	1	1	5	2
MUT:GLRA2:Arg350Leu	PROT:P23416	GLRA2	R	350	L	R350L	Pathogenic	1	1	5	42
MUT:GLRA2:Arg369His	PROT:P23416	GLRA2	R	369	H	R369H	Likely benign	0	1	5	23
MUT:GLRA2:Asn136Ser	PROT:P23416	GLRA2	N	136	S	N136S	Pathogenic	1	1	5	31
MUT:GLRA2:Asn198Lys	PROT:P23416	GLRA2	N	198	K	N198K	Likely benign	0	1	5	31
MUT:GLRA2:Asp131Gly	PROT:P23416	GLRA2	D	131	G	D131G	Likely pathogenic	1	1	5	36
MUT:GLRA2:Ile259Met	PROT:P23416	GLRA2	I	259	M	I259M	Likely pathogenic	1	1	5	17
MUT:GLRA2:Lys451Gln	PROT:P23416	GLRA2	K	451	Q	K451Q	Likely benign	0	1	5	29
MUT:GLRA2:Pro400Ser	PROT:P23416	GLRA2	P	400	S	P400S	Likely benign	0	1	5	8
MUT:GLRA2:Thr296Met	PROT:P23416	GLRA2	T	296	M	T296M	Pathogenic	1	1	5	54
MUT:GLRX5:Asp123His	PROT:Q86SX6	GLRX5	D	123	H	D123H	Likely pathogenic	1	1	1	22
MUT:GLRX5:Cys67Tyr	PROT:Q86SX6	GLRX5	C	67	Y	C67Y	Pathogenic	1	1	1	78
MUT:GLRX5:Gln66Pro	PROT:Q86SX6	GLRX5	Q	66	P	Q66P	Pathogenic	1	1	1	79
MUT:GLRX5:Leu148Ser	PROT:Q86SX6	GLRX5	L	148	S	L148S	Pathogenic	1	1	1	3
MUT:GLRX5:Lys101Gln	PROT:Q86SX6	GLRX5	K	101	Q	K101Q	Pathogenic	1	1	1	44
MUT:GLRX5:Met128Lys	PROT:Q86SX6	GLRX5	M	128	K	M128K	Pathogenic	1	1	1	17
MUT:GLS:Ala432Ser	PROT:O94925	GLS	A	432	S	A432S	Benign	0	1	15	91
MUT:GLS:Arg272Lys	PROT:O94925	GLS	R	272	K	R272K	Pathogenic	1	1	15	17
MUT:GLS:Arg570Gln	PROT:O94925	GLS	R	570	Q	R570Q	Likely pathogenic	1	1	15	47
MUT:GLS:Asn654Ser	PROT:O94925	GLS	N	654	S	N654S	Likely benign	0	1	15	131
MUT:GLS:Cys424Arg	PROT:O94925	GLS	C	424	R	C424R	Likely pathogenic	1	1	15	99
MUT:GLS:Glu66Gly	PROT:O94925	GLS	E	66	G	E66G	Likely benign	0	1	15	7
MUT:GLS:Gly42Glu	PROT:O94925	GLS	G	42	E	G42E	Likely benign	0	1	15	31
MUT:GLS:His461Leu	PROT:O94925	GLS	H	461	L	H461L	Pathogenic	1	1	15	62
MUT:GLS:His89Pro	PROT:O94925	GLS	H	89	P	H89P	Benign	0	1	15	6
MUT:GLS:Lys289Ile	PROT:O94925	GLS	K	289	I	K289I	Likely pathogenic	1	1	15	0
MUT:GLS:Pro313Leu	PROT:O94925	GLS	P	313	L	P313L	Pathogenic	1	1	15	1
MUT:GLS:Pro97Leu	PROT:O94925	GLS	P	97	L	P97L	Likely benign	0	1	15	2
MUT:GLS:Ser482Cys	PROT:O94925	GLS	S	482	C	S482C	Pathogenic	1	1	15	41
MUT:GLS:Thr647Ile	PROT:O94925	GLS	T	647	I	T647I	Likely pathogenic	1	1	15	124
MUT:GMPPB:Arg185Cys	PROT:Q9Y5P6	GMPPB	R	185	C	R185C	Pathogenic/Likely pathogenic	1	3	4	10
MUT:GMPPB:Arg287Gln	PROT:Q9Y5P6	GMPPB	R	287	Q	R287Q	Pathogenic/Likely pathogenic	1	6	4	41
MUT:GMPPB:Arg287Trp	PROT:Q9Y5P6	GMPPB	R	287	W	R287W	Pathogenic	1	2	4	41
MUT:GMPPB:Asp27His	PROT:Q9Y5P6	GMPPB	D	27	H	D27H	Pathogenic/Likely pathogenic	1	7	4	116
MUT:GMPPB:Asp334Asn	PROT:Q9Y5P6	GMPPB	D	334	N	D334N	Pathogenic/Likely pathogenic	1	5	4	88
MUT:GMPPB:Gln184Arg	PROT:Q9Y5P6	GMPPB	Q	184	R	Q184R	Benign	0	3	4	11
MUT:GMPPB:Ile219Phe	PROT:Q9Y5P6	GMPPB	I	219	F	I219F	Likely pathogenic	1	1	4	24
MUT:GMPPB:Ile219Thr	PROT:Q9Y5P6	GMPPB	I	219	T	I219T	Pathogenic/Likely pathogenic	1	3	4	24
MUT:GMPPB:Met120Val	PROT:Q9Y5P6	GMPPB	M	120	V	M120V	Pathogenic	1	2	4	23
MUT:GMPPB:Pro103Leu	PROT:Q9Y5P6	GMPPB	P	103	L	P103L	Likely pathogenic	1	2	4	40
MUT:GMPPB:Pro22Ser	PROT:Q9Y5P6	GMPPB	P	22	S	P22S	Pathogenic	1	1	4	121
MUT:GMPPB:Pro241Thr	PROT:Q9Y5P6	GMPPB	P	241	T	P241T	Likely pathogenic	1	1	4	5
MUT:GMPPB:Pro276Leu	PROT:Q9Y5P6	GMPPB	P	276	L	P276L	Likely pathogenic	1	1	4	30
MUT:GMPPB:Pro32Leu	PROT:Q9Y5P6	GMPPB	P	32	L	P32L	Pathogenic	1	2	4	111
MUT:GMPPB:Thr153Ile	PROT:Q9Y5P6	GMPPB	T	153	I	T153I	Pathogenic/Likely pathogenic	1	3	4	9
MUT:GMPPB:Val254Met	PROT:Q9Y5P6	GMPPB	V	254	M	V254M	Likely pathogenic	1	1	4	8
MUT:GMPPB:Val330Ile	PROT:Q9Y5P6	GMPPB	V	330	I	V330I	Pathogenic/Likely pathogenic	1	4	4	84
MUT:GMPR:Phe256Ile	PROT:P36959	GMPR	F	256	I	F256I	Benign	0	1	1	236
MUT:GNA14:Gln205Leu	PROT:O95837	GNA14	Q	205	L	Q205L	Pathogenic	1	1	1	157
MUT:GNAI3:Arg21His	PROT:P08754	GNAI3	R	21	H	R21H	Likely benign	0	1	16	14
MUT:GNAI3:Arg90Gln	PROT:P08754	GNAI3	R	90	Q	R90Q	Likely benign	0	1	16	36
MUT:GNAI3:Asn269Tyr	PROT:P08754	GNAI3	N	269	Y	N269Y	Likely pathogenic	1	1	16	21
MUT:GNAI3:Gly40Arg	PROT:P08754	GNAI3	G	40	R	G40R	Pathogenic/Likely pathogenic	1	1	16	4
MUT:GNAI3:Lys46Glu	PROT:P08754	GNAI3	K	46	E	K46E	Likely pathogenic	1	1	16	0
MUT:GNAI3:Ser47Arg	PROT:P08754	GNAI3	S	47	R	S47R	Pathogenic	1	1	16	0
MUT:GNAI3:Ser47Asn	PROT:P08754	GNAI3	S	47	N	S47N	Pathogenic/Likely pathogenic	1	1	16	0
MUT:GNAL:Arg46Lys	PROT:P38405	GNAL	R	46	K	R46K	Benign	0	1	12	7
MUT:GNAL:Asp13Tyr	PROT:P38405	GNAL	D	13	Y	D13Y	Likely pathogenic	1	1	12	40
MUT:GNAL:Asp304Asn	PROT:P38405	GNAL	D	304	N	D304N	Likely pathogenic	1	1	12	10
MUT:GNAL:Glu232Lys	PROT:P38405	GNAL	E	232	K	E232K	Pathogenic	1	1	12	24
MUT:GNAL:Lys357Glu	PROT:P38405	GNAL	K	357	E	K357E	Likely pathogenic	1	1	12	10
MUT:GNAL:Met1Ile	PROT:P38405	GNAL	M	1	I	M1I	Pathogenic	1	1	12	52
MUT:GNAL:Val223Met	PROT:P38405	GNAL	V	223	M	V223M	Pathogenic	1	1	12	20
MUT:GNAL:Val311Ile	PROT:P38405	GNAL	V	311	I	V311I	Likely pathogenic	1	1	12	9
MUT:GNAL:Val431Ala	PROT:P38405	GNAL	V	431	A	V431A	Pathogenic	1	1	12	84
MUT:GNAQ:Arg183Gln	PROT:P50148	GNAQ	R	183	Q	R183Q	Pathogenic/Likely pathogenic	1	9	11	4
MUT:GNAQ:Arg183Gly	PROT:P50148	GNAQ	R	183	G	R183G	Pathogenic	1	1	11	4
MUT:GNAQ:Arg183Leu	PROT:P50148	GNAQ	R	183	L	R183L	Pathogenic	1	1	11	4
MUT:GNAQ:Gln209Arg	PROT:P50148	GNAQ	Q	209	R	Q209R	Pathogenic	1	2	11	22
MUT:GNAQ:Gln209His	PROT:P50148	GNAQ	Q	209	H	Q209H	Pathogenic	1	2	11	22
MUT:GNAQ:Gln209Leu	PROT:P50148	GNAQ	Q	209	L	Q209L	Pathogenic	1	1	11	22
MUT:GNAQ:Gly48Val	PROT:P50148	GNAQ	G	48	V	G48V	Pathogenic/Likely pathogenic	1	1	11	4
MUT:GNAT2:Glu141Asp	PROT:P19087	GNAT2	E	141	D	E141D	Likely benign	0	1	4	51
MUT:GNAT2:Glu207Val	PROT:P19087	GNAT2	E	207	V	E207V	Pathogenic	1	2	4	1
MUT:GNAT2:Gly202Glu	PROT:P19087	GNAT2	G	202	E	G202E	Pathogenic	1	1	4	4
MUT:GNAT2:Leu107Ile	PROT:P19087	GNAT2	L	107	I	L107I	Benign	0	1	4	56
MUT:GNAT2:Met198Lys	PROT:P19087	GNAT2	M	198	K	M198K	Likely pathogenic	1	2	4	6
MUT:GNAT2:Ser47Gly	PROT:P19087	GNAT2	S	47	G	S47G	Likely pathogenic	1	1	4	4
MUT:GNB1:Ala326Thr	PROT:P62873	GNB1	A	326	T	A326T	Likely pathogenic	1	1	20	46
MUT:GNB1:Ala73Ser	PROT:P62873	GNB1	A	73	S	A73S	Pathogenic/Likely pathogenic	1	1	20	1
MUT:GNB1:Ala73Thr	PROT:P62873	GNB1	A	73	T	A73T	Pathogenic/Likely pathogenic	1	1	20	1
MUT:GNB1:Ala92Thr	PROT:P62873	GNB1	A	92	T	A92T	Pathogenic/Likely pathogenic	1	2	20	3
MUT:GNB1:Arg214Gln	PROT:P62873	GNB1	R	214	Q	R214Q	Likely benign	0	1	20	5
MUT:GNB1:Arg96Leu	PROT:P62873	GNB1	R	96	L	R96L	Pathogenic	1	1	20	7
MUT:GNB1:Asp118Gly	PROT:P62873	GNB1	D	118	G	D118G	Pathogenic	1	1	20	7
MUT:GNB1:Asp118His	PROT:P62873	GNB1	D	118	H	D118H	Likely pathogenic	1	1	20	7
MUT:GNB1:Asp118Tyr	PROT:P62873	GNB1	D	118	Y	D118Y	Pathogenic	1	1	20	7
MUT:GNB1:Asp76Asn	PROT:P62873	GNB1	D	76	N	D76N	Pathogenic/Likely pathogenic	1	1	20	2
MUT:GNB1:Asp76Glu	PROT:P62873	GNB1	D	76	E	D76E	Pathogenic/Likely pathogenic	1	1	20	2
MUT:GNB1:Asp76Gly	PROT:P62873	GNB1	D	76	G	D76G	Pathogenic	1	2	20	2
MUT:GNB1:Cys114Tyr	PROT:P62873	GNB1	C	114	Y	C114Y	Pathogenic	1	1	20	3
MUT:GNB1:Cys166Arg	PROT:P62873	GNB1	C	166	R	C166R	Likely pathogenic	1	1	20	30
MUT:GNB1:Glu130Lys	PROT:P62873	GNB1	E	130	K	E130K	Pathogenic/Likely pathogenic	1	1	20	6
MUT:GNB1:Gly109Glu	PROT:P62873	GNB1	G	109	E	G109E	Likely pathogenic	1	1	20	2
MUT:GNB1:Gly282Ala	PROT:P62873	GNB1	G	282	A	G282A	Likely pathogenic	1	1	20	2
MUT:GNB1:Gly53Glu	PROT:P62873	GNB1	G	53	E	G53E	Likely pathogenic	1	1	20	3
MUT:GNB1:Gly77Arg	PROT:P62873	GNB1	G	77	R	G77R	Pathogenic	1	1	20	1
MUT:GNB1:Gly77Asp	PROT:P62873	GNB1	G	77	D	G77D	Pathogenic/Likely pathogenic	1	2	20	1
MUT:GNB1:Gly77Cys	PROT:P62873	GNB1	G	77	C	G77C	Pathogenic	1	2	20	1
MUT:GNB1:Gly77Ser	PROT:P62873	GNB1	G	77	S	G77S	Pathogenic/Likely pathogenic	1	2	20	1
MUT:GNB1:Gly77Val	PROT:P62873	GNB1	G	77	V	G77V	Pathogenic	1	1	20	1
MUT:GNB1:Ile37Met	PROT:P62873	GNB1	I	37	M	I37M	Likely benign	0	1	20	6
MUT:GNB1:Ile80Asn	PROT:P62873	GNB1	I	80	N	I80N	Pathogenic	1	2	20	2
MUT:GNB1:Ile80Ser	PROT:P62873	GNB1	I	80	S	I80S	Pathogenic/Likely pathogenic	1	1	20	2
MUT:GNB1:Ile80Thr	PROT:P62873	GNB1	I	80	T	I80T	Pathogenic/Likely pathogenic	1	10	20	2
MUT:GNB1:Leu95Pro	PROT:P62873	GNB1	L	95	P	L95P	Pathogenic/Likely pathogenic	1	3	20	6
MUT:GNB1:Lys78Arg	PROT:P62873	GNB1	K	78	R	K78R	Pathogenic/Likely pathogenic	1	2	20	0
MUT:GNB1:Lys89Glu	PROT:P62873	GNB1	K	89	E	K89E	Likely pathogenic	1	1	20	0
MUT:GNB1:Met101Val	PROT:P62873	GNB1	M	101	V	M101V	Pathogenic	1	1	20	10
MUT:GNB1:Met61Ile	PROT:P62873	GNB1	M	61	I	M61I	Likely pathogenic	1	1	20	4
MUT:GNB1:Ser97Pro	PROT:P62873	GNB1	S	97	P	S97P	Likely pathogenic	1	1	20	8
MUT:GNB1:Thr29Ala	PROT:P62873	GNB1	T	29	A	T29A	Benign/Likely benign	0	1	20	2
MUT:GNB1:Trp99Leu	PROT:P62873	GNB1	W	99	L	W99L	Likely pathogenic	1	1	20	10
MUT:GNB1:Val158Ile	PROT:P62873	GNB1	V	158	I	V158I	Benign/Likely benign	0	1	20	22
MUT:GNB4:Arg304His	PROT:Q9HAV0	GNB4	R	304	H	R304H	Likely benign	0	1	6	38
MUT:GNB4:Asp76Gly	PROT:Q9HAV0	GNB4	D	76	G	D76G	Likely pathogenic	1	1	6	4
MUT:GNB4:Gln220Arg	PROT:Q9HAV0	GNB4	Q	220	R	Q220R	Likely pathogenic	1	1	6	46
MUT:GNB4:Gly53Asp	PROT:Q9HAV0	GNB4	G	53	D	G53D	Likely pathogenic	1	1	6	19
MUT:GNB4:Gly77Arg	PROT:Q9HAV0	GNB4	G	77	R	G77R	Pathogenic	1	1	6	5
MUT:GNB4:Ile123Val	PROT:Q9HAV0	GNB4	I	123	V	I123V	Likely benign	0	1	6	38
MUT:GNB4:Leu192Val	PROT:Q9HAV0	GNB4	L	192	V	L192V	Likely benign	0	1	6	74
MUT:GNB4:Leu285Val	PROT:Q9HAV0	GNB4	L	285	V	L285V	Likely benign	0	1	6	19
MUT:GNB4:Lys57Glu	PROT:Q9HAV0	GNB4	K	57	E	K57E	Pathogenic/Likely pathogenic	1	1	6	15
MUT:GNB4:Lys89Glu	PROT:Q9HAV0	GNB4	K	89	E	K89E	Pathogenic	1	1	6	4
MUT:GNB4:Ser233Gly	PROT:Q9HAV0	GNB4	S	233	G	S233G	Likely benign	0	1	6	33
MUT:GNB4:Thr223Met	PROT:Q9HAV0	GNB4	T	223	M	T223M	Benign/Likely benign	0	1	6	43
MUT:GNB4:Thr299Met	PROT:Q9HAV0	GNB4	T	299	M	T299M	Likely benign	0	1	6	33
MUT:GNB4:Thr87Ala	PROT:Q9HAV0	GNB4	T	87	A	T87A	Likely benign	0	1	6	2
MUT:GNB4:Val320Ile	PROT:Q9HAV0	GNB4	V	320	I	V320I	Benign/Likely benign	0	1	6	54
MUT:GNMT:Ala107Thr	PROT:Q14749	GNMT	A	107	T	A107T	Benign	0	1	4	26
MUT:GNMT:Asn141Ser	PROT:Q14749	GNMT	N	141	S	N141S	Pathogenic	1	1	4	1
MUT:GNMT:Leu50Pro	PROT:Q14749	GNMT	L	50	P	L50P	Pathogenic	1	1	4	4
MUT:GNMT:Val125Met	PROT:Q14749	GNMT	V	125	M	V125M	Likely benign	0	1	4	17
MUT:GNPAT:Arg211Cys	PROT:O15228	GNPAT	R	211	C	R211C	Likely pathogenic	1	2	12	40
MUT:GNPAT:Arg211His	PROT:O15228	GNPAT	R	211	H	R211H	Pathogenic	1	1	12	40
MUT:GNPAT:Asp519Gly	PROT:O15228	GNPAT	D	519	G	D519G	Benign/Likely benign	0	1	12	70
MUT:GNPAT:Ile488Val	PROT:O15228	GNPAT	I	488	V	I488V	Likely benign	0	1	12	101
MUT:GNPAT:Ile672Val	PROT:O15228	GNPAT	I	672	V	I672V	Likely benign	0	1	12	47
MUT:GNPAT:Lys315Arg	PROT:O15228	GNPAT	K	315	R	K315R	Likely benign	0	1	12	3
MUT:GNPAT:Ser9Phe	PROT:O15228	GNPAT	S	9	F	S9F	Benign	0	1	12	22
MUT:GNPAT:Val495Ile	PROT:O15228	GNPAT	V	495	I	V495I	Benign/Likely benign	0	1	12	94
MUT:GNPTG:Ala160Val	PROT:Q9UJJ9	GNPTG	A	160	V	A160V	Benign	0	1	2	16
MUT:GNPTG:Arg272Gly	PROT:Q9UJJ9	GNPTG	R	272	G	R272G	Likely benign	0	2	2	65
MUT:GNPTG:Arg7Gly	PROT:Q9UJJ9	GNPTG	R	7	G	R7G	Likely benign	0	1	2	137
MUT:GNPTG:Gly106Ser	PROT:Q9UJJ9	GNPTG	G	106	S	G106S	Pathogenic/Likely pathogenic	1	1	2	38
MUT:GNPTG:Gly4Glu	PROT:Q9UJJ9	GNPTG	G	4	E	G4E	Likely benign	0	1	2	140
MUT:GNPTG:His150Gln	PROT:Q9UJJ9	GNPTG	H	150	Q	H150Q	Benign	0	2	2	6
MUT:GNPTG:Met1Leu	PROT:Q9UJJ9	GNPTG	M	1	L	M1L	Likely pathogenic	1	1	2	143
MUT:GNPTG:Ser236Gly	PROT:Q9UJJ9	GNPTG	S	236	G	S236G	Likely benign	0	1	2	29
MUT:GNPTG:Ser304Gly	PROT:Q9UJJ9	GNPTG	S	304	G	S304G	Benign/Likely benign	0	1	2	97
MUT:GNPTG:Val168Ile	PROT:Q9UJJ9	GNPTG	V	168	I	V168I	Likely benign	0	2	2	24
MUT:GNS:Arg533His	PROT:P15586	GNS	R	533	H	R533H	Benign/Likely benign	0	2	5	8
MUT:GNS:Asp385Glu	PROT:P15586	GNS	D	385	E	D385E	Likely benign	0	3	5	31
MUT:GNS:Lys340Arg	PROT:P15586	GNS	K	340	R	K340R	Pathogenic/Likely pathogenic	1	1	5	76
MUT:GNS:Ser537Asn	PROT:P15586	GNS	S	537	N	S537N	Likely benign	0	1	5	4
MUT:GNS:Val307Ile	PROT:P15586	GNS	V	307	I	V307I	Likely benign	0	1	5	50
MUT:GOLGA2:Leu576Val	PROT:Q08379	GOLGA2	L	576	V	L576V	Benign/Likely benign	0	8	20	30
MUT:GOLGB1:Ala2223Val	PROT:Q14789	GOLGB1	A	2223	V	A2223V	Benign	0	4	73	14
MUT:GON4L:Leu707Val	PROT:Q3T8J9	GON4L	L	707	V	L707V	Likely benign	0	1	31	45
MUT:GON4L:Lys1126Thr	PROT:Q3T8J9	GON4L	K	1126	T	K1126T	Likely benign	0	1	31	117
MUT:GON4L:Val1075Met	PROT:Q3T8J9	GON4L	V	1075	M	V1075M	Likely benign	0	1	31	66
MUT:GON4L:Val26Ile	PROT:Q3T8J9	GON4L	V	26	I	V26I	Likely benign	0	1	31	16
MUT:GON7:Gln15Arg	PROT:Q9BXV9	GON7	Q	15	R	Q15R	Likely benign	0	1	1	5
MUT:GORAB:Ala220Pro	PROT:Q5T7V8	GORAB	A	220	P	A220P	Pathogenic	1	1	7	102
MUT:GORAB:Arg240His	PROT:Q5T7V8	GORAB	R	240	H	R240H	Likely benign	0	1	7	120
MUT:GORAB:Asp340Glu	PROT:Q5T7V8	GORAB	D	340	E	D340E	Likely benign	0	1	7	20
MUT:GORAB:Glu295Lys	PROT:Q5T7V8	GORAB	E	295	K	E295K	Benign	0	1	7	65
MUT:GORAB:Met1Val	PROT:Q5T7V8	GORAB	M	1	V	M1V	Likely pathogenic	1	1	7	91
MUT:GORAB:Phe224Leu	PROT:Q5T7V8	GORAB	F	224	L	F224L	Likely benign	0	2	7	106
MUT:GORAB:Pro94Ala	PROT:Q5T7V8	GORAB	P	94	A	P94A	Likely benign	0	1	7	2
MUT:GORASP1:Ala31Val	PROT:Q9BQQ3	GORASP1	A	31	V	A31V	Likely benign	0	5	10	25
MUT:GOSR2:Arg50Cys	PROT:O14653	GOSR2	R	50	C	R50C	Benign/Likely benign	0	1	4	7
MUT:GOSR2:Arg67Lys	PROT:O14653	GOSR2	R	67	K	R67K	Benign	0	3	4	10
MUT:GOSR2:Asn146Ser	PROT:O14653	GOSR2	N	146	S	N146S	Benign	0	1	4	45
MUT:GOSR2:Glu14Lys	PROT:O14653	GOSR2	E	14	K	E14K	Benign/Likely benign	0	1	4	13
MUT:GOSR2:Gly144Trp	PROT:O14653	GOSR2	G	144	W	G144W	Pathogenic	1	4	4	47
MUT:GOSR2:Met1Arg	PROT:O14653	GOSR2	M	1	R	M1R	Pathogenic	1	1	4	0
MUT:GOSR2:Met1Leu	PROT:O14653	GOSR2	M	1	L	M1L	Likely pathogenic	1	1	4	0
MUT:GOSR2:Met1Thr	PROT:O14653	GOSR2	M	1	T	M1T	Likely pathogenic	1	1	4	0
MUT:GOSR2:Pro3Thr	PROT:O14653	GOSR2	P	3	T	P3T	Benign/Likely benign	0	1	4	2
MUT:GOT2:Arg222His	PROT:P00505	GOT2	R	222	H	R222H	Benign	0	1	39	5
MUT:GOT2:Arg262Gly	PROT:P00505	GOT2	R	262	G	R262G	Likely pathogenic	1	2	39	17
MUT:GOT2:Arg337Gly	PROT:P00505	GOT2	R	337	G	R337G	Likely pathogenic	1	2	39	4
MUT:GOT2:Asp154Asn	PROT:P00505	GOT2	D	154	N	D154N	Benign	0	1	39	4
MUT:GOT2:Gly188Ser	PROT:P00505	GOT2	G	188	S	G188S	Benign	0	1	39	3
MUT:GOT2:Gly366Val	PROT:P00505	GOT2	G	366	V	G366V	Likely pathogenic	1	2	39	2
MUT:GOT2:Val346Gly	PROT:P00505	GOT2	V	346	G	V346G	Benign	0	1	39	13
MUT:GP1BA:Ala172Val	PROT:P07359	GP1BA	A	172	V	A172V	Pathogenic	1	2	8	75
MUT:GP1BA:Ala181Pro	PROT:P07359	GP1BA	A	181	P	A181P	Likely benign	0	1	8	66
MUT:GP1BA:Ala396Thr	PROT:P07359	GP1BA	A	396	T	A396T	Likely benign	0	1	8	101
MUT:GP1BA:Ala459Thr	PROT:P07359	GP1BA	A	459	T	A459T	Likely benign	0	1	8	142
MUT:GP1BA:Arg137His	PROT:P07359	GP1BA	R	137	H	R137H	Likely benign	0	1	8	110
MUT:GP1BA:Arg36Gly	PROT:P07359	GP1BA	R	36	G	R36G	Benign	0	1	8	211
MUT:GP1BA:Asn150Ser	PROT:P07359	GP1BA	N	150	S	N150S	Likely pathogenic	1	3	8	97
MUT:GP1BA:Asn57Asp	PROT:P07359	GP1BA	N	57	D	N57D	Likely pathogenic	1	2	8	190
MUT:GP1BA:Asp265Tyr	PROT:P07359	GP1BA	D	265	Y	D265Y	Pathogenic	1	1	8	18
MUT:GP1BA:Cys20Gly	PROT:P07359	GP1BA	C	20	G	C20G	Pathogenic	1	1	8	227
MUT:GP1BA:Cys225Arg	PROT:P07359	GP1BA	C	225	R	C225R	Likely pathogenic	1	1	8	22
MUT:GP1BA:Cys225Ser	PROT:P07359	GP1BA	C	225	S	C225S	Pathogenic	1	3	8	22
MUT:GP1BA:Cys33Arg	PROT:P07359	GP1BA	C	33	R	C33R	Pathogenic/Likely pathogenic	1	2	8	214
MUT:GP1BA:Cys33Ser	PROT:P07359	GP1BA	C	33	S	C33S	Likely pathogenic	1	1	8	214
MUT:GP1BA:Cys33Tyr	PROT:P07359	GP1BA	C	33	Y	C33Y	Likely pathogenic	1	1	8	214
MUT:GP1BA:Cys81Arg	PROT:P07359	GP1BA	C	81	R	C81R	Pathogenic	1	1	8	166
MUT:GP1BA:Gln263Arg	PROT:P07359	GP1BA	Q	263	R	Q263R	Likely benign	0	1	8	16
MUT:GP1BA:Gly138Val	PROT:P07359	GP1BA	G	138	V	G138V	Likely pathogenic	1	1	8	109
MUT:GP1BA:Gly249Asp	PROT:P07359	GP1BA	G	249	D	G249D	Pathogenic	1	1	8	2
MUT:GP1BA:Gly249Ser	PROT:P07359	GP1BA	G	249	S	G249S	Pathogenic/Likely pathogenic	1	2	8	2
MUT:GP1BA:Gly249Val	PROT:P07359	GP1BA	G	249	V	G249V	Pathogenic/Likely pathogenic	1	1	8	2
MUT:GP1BA:Gly96Glu	PROT:P07359	GP1BA	G	96	E	G96E	Likely benign	0	1	8	151
MUT:GP1BA:Leu115Pro	PROT:P07359	GP1BA	L	115	P	L115P	Pathogenic/Likely pathogenic	1	2	8	132
MUT:GP1BA:Leu136Pro	PROT:P07359	GP1BA	L	136	P	L136P	Likely pathogenic	1	1	8	111
MUT:GP1BA:Leu145Pro	PROT:P07359	GP1BA	L	145	P	L145P	Likely pathogenic	1	2	8	102
MUT:GP1BA:Leu155Pro	PROT:P07359	GP1BA	L	155	P	L155P	Likely pathogenic	1	1	8	92
MUT:GP1BA:Leu73Phe	PROT:P07359	GP1BA	L	73	F	L73F	Likely pathogenic	1	2	8	174
MUT:GP1BA:Leu83Phe	PROT:P07359	GP1BA	L	83	F	L83F	Likely pathogenic	1	1	8	164
MUT:GP1BA:Leu86Phe	PROT:P07359	GP1BA	L	86	F	L86F	Benign	0	2	8	161
MUT:GP1BA:Met255Val	PROT:P07359	GP1BA	M	255	V	M255V	Pathogenic/Likely pathogenic	1	3	8	8
MUT:GP1BA:Pro315Ser	PROT:P07359	GP1BA	P	315	S	P315S	Likely benign	0	1	8	20
MUT:GP1BA:Pro411Leu	PROT:P07359	GP1BA	P	411	L	P411L	Benign	0	2	8	116
MUT:GP1BA:Pro421Leu	PROT:P07359	GP1BA	P	421	L	P421L	Likely benign	0	1	8	126
MUT:GP1BA:Pro69Leu	PROT:P07359	GP1BA	P	69	L	P69L	Benign	0	2	8	178
MUT:GP1BA:Ser389Pro	PROT:P07359	GP1BA	S	389	P	S389P	Likely benign	0	1	8	94
MUT:GP1BA:Thr119Ala	PROT:P07359	GP1BA	T	119	A	T119A	Likely benign	0	1	8	128
MUT:GP1BA:Thr161Met	PROT:P07359	GP1BA	T	161	M	T161M	Benign	0	1	8	86
MUT:GP1BA:Trp223Gly	PROT:P07359	GP1BA	W	223	G	W223G	Likely pathogenic	1	1	8	24
MUT:GP1BA:Trp246Leu	PROT:P07359	GP1BA	W	246	L	W246L	Pathogenic	1	1	8	1
MUT:GPAA1:Ala389Pro	PROT:O43292	GPAA1	A	389	P	A389P	Likely pathogenic	1	1	6	60
MUT:GPAA1:Ala429Thr	PROT:O43292	GPAA1	A	429	T	A429T	Benign	0	1	6	100
MUT:GPAA1:Ala514Thr	PROT:O43292	GPAA1	A	514	T	A514T	Benign/Likely benign	0	1	6	185
MUT:GPAA1:Glu275Gln	PROT:O43292	GPAA1	E	275	Q	E275Q	Benign	0	1	6	54
MUT:GPAA1:Leu291Pro	PROT:O43292	GPAA1	L	291	P	L291P	Likely pathogenic	1	1	6	38
MUT:GPAA1:Pro609Leu	PROT:O43292	GPAA1	P	609	L	P609L	Pathogenic	1	1	6	280
MUT:GPAA1:Ser51Leu	PROT:O43292	GPAA1	S	51	L	S51L	Likely pathogenic	1	1	6	2
MUT:GPAA1:Thr105Met	PROT:O43292	GPAA1	T	105	M	T105M	Likely benign	0	1	6	2
MUT:GPAA1:Trp176Ser	PROT:O43292	GPAA1	W	176	S	W176S	Likely pathogenic	1	1	6	65
MUT:GPBAR1:Ala153Val	PROT:Q8TDU6	GPBAR1	A	153	V	A153V	Likely benign	0	1	1	153
MUT:GPBAR1:Ala217Pro	PROT:Q8TDU6	GPBAR1	A	217	P	A217P	Likely benign	0	1	1	89
MUT:GPBAR1:Gln296Arg	PROT:Q8TDU6	GPBAR1	Q	296	R	Q296R	Benign	0	1	1	10
MUT:GPBAR1:Met112Ile	PROT:Q8TDU6	GPBAR1	M	112	I	M112I	Likely benign	0	1	1	194
MUT:GPD1L:Arg220His	PROT:Q8N335	GPD1L	R	220	H	R220H	Likely benign	0	3	2	88
MUT:GPD2:Ile308Val	PROT:P43304	GPD2	I	308	V	I308V	Likely benign	0	1	20	14
MUT:GPD2:Leu576Val	PROT:P43304	GPD2	L	576	V	L576V	Likely benign	0	3	20	24
MUT:GPD2:Phe635Ser	PROT:P43304	GPD2	F	635	S	F635S	Pathogenic	1	1	20	1
MUT:GPD2:Val194Ile	PROT:P43304	GPD2	V	194	I	V194I	Benign	0	1	20	24
MUT:GPNMB:Arg535His	PROT:Q14956	GPNMB	R	535	H	R535H	Likely benign	0	1	6	4
MUT:GPNMB:Asn447Ser	PROT:Q14956	GPNMB	N	447	S	N447S	Likely benign	0	1	6	84
MUT:GPNMB:Asp141Tyr	PROT:Q14956	GPNMB	D	141	Y	D141Y	Likely benign	0	1	6	390
MUT:GPNMB:Asp433Glu	PROT:Q14956	GPNMB	D	433	E	D433E	Benign	0	4	6	98
MUT:GPNMB:Cys413Ser	PROT:Q14956	GPNMB	C	413	S	C413S	Likely pathogenic	1	1	6	118
MUT:GPNMB:Gly144Trp	PROT:Q14956	GPNMB	G	144	W	G144W	Likely benign	0	1	6	387
MUT:GPNMB:Ile490Val	PROT:Q14956	GPNMB	I	490	V	I490V	Likely benign	0	1	6	41
MUT:GPNMB:Ile497Val	PROT:Q14956	GPNMB	I	497	V	I497V	Likely benign	0	1	6	34
MUT:GPNMB:Pro389Leu	PROT:Q14956	GPNMB	P	389	L	P389L	Likely benign	0	1	6	142
MUT:GPNMB:Pro520Thr	PROT:Q14956	GPNMB	P	520	T	P520T	Likely benign	0	1	6	11
MUT:GPR132:Ala352Ser	PROT:Q9UNW8	GPR132	A	352	S	A352S	Benign	0	2	2	16
MUT:GPR143:Asn260Ser	PROT:P51810	GPR143	N	260	S	N260S	Likely pathogenic	1	1	5	29
MUT:GPR143:Cys116Gly	PROT:P51810	GPR143	C	116	G	C116G	Pathogenic	1	1	5	41
MUT:GPR143:Gln124Arg	PROT:P51810	GPR143	Q	124	R	Q124R	Benign/Likely benign	0	1	5	33
MUT:GPR143:Gly312Val	PROT:P51810	GPR143	G	312	V	G312V	Likely pathogenic	1	1	5	31
MUT:GPR143:Gly35Asp	PROT:P51810	GPR143	G	35	D	G35D	Pathogenic	1	1	5	122
MUT:GPR143:Ile159Leu	PROT:P51810	GPR143	I	159	L	I159L	Likely benign	0	1	5	2
MUT:GPR143:Leu83Pro	PROT:P51810	GPR143	L	83	P	L83P	Likely pathogenic	1	1	5	74
MUT:GPR143:Met1Ile	PROT:P51810	GPR143	M	1	I	M1I	Likely pathogenic	1	1	5	156
MUT:GPR143:Ser89Phe	PROT:P51810	GPR143	S	89	F	S89F	Pathogenic	1	1	5	68
MUT:GPR143:Thr232Lys	PROT:P51810	GPR143	T	232	K	T232K	Pathogenic	1	1	5	1
MUT:GPR143:Trp133Arg	PROT:P51810	GPR143	W	133	R	W133R	Likely pathogenic	1	1	5	24
MUT:GPR143:Trp292Gly	PROT:P51810	GPR143	W	292	G	W292G	Pathogenic	1	2	5	51
MUT:GPR161:Gly497Asp	PROT:Q8N6U8	GPR161	G	497	D	G497D	Likely benign	0	1	3	20
MUT:GPR174:Pro88His	PROT:Q9BXC1	GPR174	P	88	H	P88H	Likely benign	0	1	4	79
MUT:GPR174:Ser162Pro	PROT:Q9BXC1	GPR174	S	162	P	S162P	Benign	0	1	4	5
MUT:GPRASP2:Ala233Val	PROT:Q96D09	GPRASP2	A	233	V	A233V	Benign	0	1	13	13
MUT:GPRASP2:Ala573Asn	PROT:Q96D09	GPRASP2	A	573	N	A573N	Pathogenic	1	1	13	61
MUT:GPRASP2:Arg109His	PROT:Q96D09	GPRASP2	R	109	H	R109H	Likely benign	0	1	13	9
MUT:GPRASP2:Asn718Asp	PROT:Q96D09	GPRASP2	N	718	D	N718D	Likely benign	0	1	13	28
MUT:GPRASP2:Pro546Ser	PROT:Q96D09	GPRASP2	P	546	S	P546S	Likely benign	0	1	13	34
MUT:GPRASP2:Ser289Gly	PROT:Q96D09	GPRASP2	S	289	G	S289G	Benign	0	1	13	5
MUT:GPRASP2:Ser788Ile	PROT:Q96D09	GPRASP2	S	788	I	S788I	Likely pathogenic	1	1	13	26
MUT:GPRASP2:Trp195Cys	PROT:Q96D09	GPRASP2	W	195	C	W195C	Likely benign	0	1	13	25
MUT:GPT2:Arg134Cys	PROT:Q8TD30	GPT2	R	134	C	R134C	Pathogenic	1	1	2	272
MUT:GPT2:Asn271Thr	PROT:Q8TD30	GPT2	N	271	T	N271T	Pathogenic	1	1	2	135
MUT:GPT2:Gln140Lys	PROT:Q8TD30	GPT2	Q	140	K	Q140K	Likely benign	0	1	2	266
MUT:GPT2:Gln459Glu	PROT:Q8TD30	GPT2	Q	459	E	Q459E	Likely benign	0	1	2	32
MUT:GPT2:Glu400Gln	PROT:Q8TD30	GPT2	E	400	Q	E400Q	Likely benign	0	1	2	6
MUT:GPT2:Ser153Arg	PROT:Q8TD30	GPT2	S	153	R	S153R	Likely pathogenic	1	1	2	253
MUT:GPT2:Val479Met	PROT:Q8TD30	GPT2	V	479	M	V479M	Pathogenic	1	1	2	12
MUT:GPT:Ala11Glu	PROT:P24298	GPT	A	11	E	A11E	Likely benign	0	2	11	9
MUT:GPT:Glu430Gln	PROT:P24298	GPT	E	430	Q	E430Q	Benign/Likely benign	0	8	11	17
MUT:GPT:His14Asp	PROT:P24298	GPT	H	14	D	H14D	Benign	0	1	11	8
MUT:GPX1:Ala194Thr	PROT:P07203	GPX1	A	194	T	A194T	Benign	0	1	2	46
MUT:GPX1:Arg5Pro	PROT:P07203	GPX1	R	5	P	R5P	Benign	0	1	2	83
MUT:GPX1:Pro200Leu	PROT:P07203	GPX1	P	200	L	P200L	Benign	0	2	2	52
MUT:GRAMD1B:Gly757Arg	PROT:Q3KR37	GRAMD1B	G	757	R	G757R	Benign	0	1	17	172
MUT:GRAMD1B:Thr866Arg	PROT:Q3KR37	GRAMD1B	T	866	R	T866R	Likely benign	0	1	17	281
MUT:GRAMD1B:Val507Ile	PROT:Q3KR37	GRAMD1B	V	507	I	V507I	Likely benign	0	1	17	3
MUT:GREB1L:Arg1057Trp	PROT:Q9C091	GREB1L	R	1057	W	R1057W	Likely pathogenic	1	1	7	4
MUT:GREB1L:Arg1292Gln	PROT:Q9C091	GREB1L	R	1292	Q	R1292Q	Benign	0	1	7	195
MUT:GREB1L:Arg1503Trp	PROT:Q9C091	GREB1L	R	1503	W	R1503W	Likely pathogenic	1	1	7	57
MUT:GREB1L:Arg1599His	PROT:Q9C091	GREB1L	R	1599	H	R1599H	Likely pathogenic	1	1	7	39
MUT:GREB1L:Arg463Gln	PROT:Q9C091	GREB1L	R	463	Q	R463Q	Benign	0	1	7	598
MUT:GREB1L:Asn283Ser	PROT:Q9C091	GREB1L	N	283	S	N283S	Likely pathogenic	1	2	7	778
MUT:GREB1L:Asp1110Asn	PROT:Q9C091	GREB1L	D	1110	N	D1110N	Benign/Likely benign	0	1	7	13
MUT:GREB1L:Asp1692Tyr	PROT:Q9C091	GREB1L	D	1692	Y	D1692Y	Likely pathogenic	1	1	7	6
MUT:GREB1L:Gln1456His	PROT:Q9C091	GREB1L	Q	1456	H	Q1456H	Pathogenic	1	2	7	104
MUT:GREB1L:Gln8Pro	PROT:Q9C091	GREB1L	Q	8	P	Q8P	Likely pathogenic	1	1	7	1053
MUT:GREB1L:Glu1760Asp	PROT:Q9C091	GREB1L	E	1760	D	E1760D	Benign	0	1	7	74
MUT:GREB1L:Gly1096Arg	PROT:Q9C091	GREB1L	G	1096	R	G1096R	Likely benign	0	1	7	1
MUT:GREB1L:Gly1848Arg	PROT:Q9C091	GREB1L	G	1848	R	G1848R	Likely pathogenic	1	1	7	162
MUT:GREB1L:Gly444Ser	PROT:Q9C091	GREB1L	G	444	S	G444S	Benign	0	1	7	617
MUT:GREB1L:His1536Arg	PROT:Q9C091	GREB1L	H	1536	R	H1536R	Pathogenic	1	1	7	24
MUT:GREB1L:Leu1567Pro	PROT:Q9C091	GREB1L	L	1567	P	L1567P	Pathogenic/Likely pathogenic	1	1	7	7
MUT:GREB1L:Leu1793Arg	PROT:Q9C091	GREB1L	L	1793	R	L1793R	Pathogenic	1	1	7	107
MUT:GREB1L:Lys439Asn	PROT:Q9C091	GREB1L	K	439	N	K439N	Likely pathogenic	1	1	7	622
MUT:GREB1L:Lys747Arg	PROT:Q9C091	GREB1L	K	747	R	K747R	Benign	0	1	7	314
MUT:GREB1L:Met1193Thr	PROT:Q9C091	GREB1L	M	1193	T	M1193T	Likely benign	0	1	7	96
MUT:GREB1L:Phe1451Leu	PROT:Q9C091	GREB1L	F	1451	L	F1451L	Likely pathogenic	1	1	7	109
MUT:GREB1L:Phe37Leu	PROT:Q9C091	GREB1L	F	37	L	F37L	Likely pathogenic	1	1	7	1024
MUT:GREB1L:Pro104Leu	PROT:Q9C091	GREB1L	P	104	L	P104L	Likely pathogenic	1	1	7	957
MUT:GREB1L:Pro1304Leu	PROT:Q9C091	GREB1L	P	1304	L	P1304L	Benign/Likely benign	0	1	7	207
MUT:GREB1L:Ser1235Tyr	PROT:Q9C091	GREB1L	S	1235	Y	S1235Y	Likely pathogenic	1	1	7	138
MUT:GREB1L:Ser795Pro	PROT:Q9C091	GREB1L	S	795	P	S795P	Benign	0	1	7	266
MUT:GREB1L:Thr1065Ile	PROT:Q9C091	GREB1L	T	1065	I	T1065I	Likely pathogenic	1	1	7	0
MUT:GREB1L:Trp235Cys	PROT:Q9C091	GREB1L	W	235	C	W235C	Pathogenic	1	1	7	826
MUT:GREB1L:Val1426Ile	PROT:Q9C091	GREB1L	V	1426	I	V1426I	Likely pathogenic	1	1	7	134
MUT:GREM1:Lys133Arg	PROT:O60565	GREM1	K	133	R	K133R	Likely benign	0	1	4	4
MUT:GREM1:Met153Ile	PROT:O60565	GREM1	M	153	I	M153I	Likely benign	0	1	4	16
MUT:GREM1:Thr47Ser	PROT:O60565	GREM1	T	47	S	T47S	Likely benign	0	1	4	3
MUT:GREM2:Glu136Asp	PROT:Q9H772	GREM2	E	136	D	E136D	Pathogenic	1	1	1	80
MUT:GRIA1:Ala636Thr	PROT:P42261	GRIA1	A	636	T	A636T	Pathogenic/Likely pathogenic	1	2	12	9
MUT:GRIA1:Arg126His	PROT:P42261	GRIA1	R	126	H	R126H	Likely benign	0	1	12	224
MUT:GRIA1:Arg198Gln	PROT:P42261	GRIA1	R	198	Q	R198Q	Likely benign	0	1	12	152
MUT:GRIA1:Arg198Trp	PROT:P42261	GRIA1	R	198	W	R198W	Likely benign	0	1	12	152
MUT:GRIA1:Arg208Pro	PROT:P42261	GRIA1	R	208	P	R208P	Benign	0	1	12	142
MUT:GRIA1:Arg698Gln	PROT:P42261	GRIA1	R	698	Q	R698Q	Likely benign	0	1	12	12
MUT:GRIA1:Arg861Cys	PROT:P42261	GRIA1	R	861	C	R861C	Likely benign	0	1	12	2
MUT:GRIA1:Arg91Cys	PROT:P42261	GRIA1	R	91	C	R91C	Likely benign	0	1	12	259
MUT:GRIA1:Asn249Ser	PROT:P42261	GRIA1	N	249	S	N249S	Likely benign	0	1	12	101
MUT:GRIA1:Gly214Ser	PROT:P42261	GRIA1	G	214	S	G214S	Likely benign	0	1	12	136
MUT:GRIA1:Gly513Glu	PROT:P42261	GRIA1	G	513	E	G513E	Likely pathogenic	1	1	12	2
MUT:GRIA1:Gly745Asp	PROT:P42261	GRIA1	G	745	D	G745D	Pathogenic/Likely pathogenic	1	3	12	35
MUT:GRIA1:Gly790Arg	PROT:P42261	GRIA1	G	790	R	G790R	Likely benign	0	1	12	44
MUT:GRIA1:Ile217Val	PROT:P42261	GRIA1	I	217	V	I217V	Likely benign	0	1	12	133
MUT:GRIA1:Met267Thr	PROT:P42261	GRIA1	M	267	T	M267T	Likely benign	0	1	12	83
MUT:GRIA1:Pro508Gln	PROT:P42261	GRIA1	P	508	Q	P508Q	Likely pathogenic	1	1	12	3
MUT:GRIA1:Ser872Thr	PROT:P42261	GRIA1	S	872	T	S872T	Likely pathogenic	1	1	12	9
MUT:GRIA1:Val157Ile	PROT:P42261	GRIA1	V	157	I	V157I	Likely benign	0	1	12	193
MUT:GRIA1:Val329Ala	PROT:P42261	GRIA1	V	329	A	V329A	Likely benign	0	1	12	21
MUT:GRIA1:Val482Phe	PROT:P42261	GRIA1	V	482	F	V482F	Likely benign	0	1	12	29
MUT:GRIA4:Ala640Ser	PROT:P48058	GRIA4	A	640	S	A640S	Pathogenic	1	1	8	44
MUT:GRIA4:Ala643Gly	PROT:P48058	GRIA4	A	643	G	A643G	Pathogenic/Likely pathogenic	1	2	8	41
MUT:GRIA4:Ala644Val	PROT:P48058	GRIA4	A	644	V	A644V	Likely pathogenic	1	2	8	40
MUT:GRIA4:Arg697Gln	PROT:P48058	GRIA4	R	697	Q	R697Q	Pathogenic	1	1	8	2
MUT:GRIA4:Arg697Pro	PROT:P48058	GRIA4	R	697	P	R697P	Likely pathogenic	1	2	8	2
MUT:GRIA4:Asn641Asp	PROT:P48058	GRIA4	N	641	D	N641D	Likely pathogenic	1	2	8	43
MUT:GRIA4:Gln28Pro	PROT:P48058	GRIA4	Q	28	P	Q28P	Likely benign	0	1	8	286
MUT:GRIA4:Gly581Arg	PROT:P48058	GRIA4	G	581	R	G581R	Likely benign	0	1	8	62
MUT:GRIA4:Thr639Ser	PROT:P48058	GRIA4	T	639	S	T639S	Pathogenic/Likely pathogenic	1	2	8	45
MUT:GRID2:Ala654Gly	PROT:O43424	GRID2	A	654	G	A654G	Pathogenic	1	1	3	9
MUT:GRID2:Ala654Thr	PROT:O43424	GRID2	A	654	T	A654T	Pathogenic/Likely pathogenic	1	1	3	9
MUT:GRID2:Arg224Gln	PROT:O43424	GRID2	R	224	Q	R224Q	Likely pathogenic	1	1	3	14
MUT:GRID2:Thr649Ala	PROT:O43424	GRID2	T	649	A	T649A	Pathogenic/Likely pathogenic	1	1	3	14
MUT:GRID2:Thr68Met	PROT:O43424	GRID2	T	68	M	T68M	Benign/Likely benign	0	1	3	170
MUT:GRIK5:Ala581Val	PROT:Q16478	GRIK5	A	581	V	A581V	Likely benign	0	3	2	185
MUT:GRIK5:Arg832Met	PROT:Q16478	GRIK5	R	832	M	R832M	Benign	0	1	2	436
MUT:GRIK5:Met352Val	PROT:Q16478	GRIK5	M	352	V	M352V	Likely benign	0	1	2	44
MUT:GRIK5:Ser261Phe	PROT:Q16478	GRIK5	S	261	F	S261F	Likely benign	0	1	2	126
MUT:GRIN2A:Ala1395Glu	PROT:Q12879	GRIN2A	A	1395	E	A1395E	Likely benign	0	1	42	8
MUT:GRIN2A:Ala1395Val	PROT:Q12879	GRIN2A	A	1395	V	A1395V	Benign	0	1	42	8
MUT:GRIN2A:Ala243Val	PROT:Q12879	GRIN2A	A	243	V	A243V	Likely pathogenic	1	1	42	123
MUT:GRIN2A:Ala26Ser	PROT:Q12879	GRIN2A	A	26	S	A26S	Likely benign	0	1	42	78
MUT:GRIN2A:Ala33Thr	PROT:Q12879	GRIN2A	A	33	T	A33T	Likely benign	0	1	42	71
MUT:GRIN2A:Ala508Thr	PROT:Q12879	GRIN2A	A	508	T	A508T	Pathogenic	1	1	42	3
MUT:GRIN2A:Ala548Pro	PROT:Q12879	GRIN2A	A	548	P	A548P	Likely pathogenic	1	1	42	37
MUT:GRIN2A:Ala548Thr	PROT:Q12879	GRIN2A	A	548	T	A548T	Likely pathogenic	1	1	42	37
MUT:GRIN2A:Ala60Thr	PROT:Q12879	GRIN2A	A	60	T	A60T	Likely benign	0	1	42	44
MUT:GRIN2A:Ala60Val	PROT:Q12879	GRIN2A	A	60	V	A60V	Likely benign	0	1	42	44
MUT:GRIN2A:Ala635Asp	PROT:Q12879	GRIN2A	A	635	D	A635D	Likely pathogenic	1	1	42	84
MUT:GRIN2A:Ala635Thr	PROT:Q12879	GRIN2A	A	635	T	A635T	Pathogenic/Likely pathogenic	1	1	42	84
MUT:GRIN2A:Ala638Thr	PROT:Q12879	GRIN2A	A	638	T	A638T	Likely pathogenic	1	1	42	81
MUT:GRIN2A:Ala643Asp	PROT:Q12879	GRIN2A	A	643	D	A643D	Likely pathogenic	1	1	42	76
MUT:GRIN2A:Ala647Ser	PROT:Q12879	GRIN2A	A	647	S	A647S	Pathogenic	1	1	42	72
MUT:GRIN2A:Ala716Thr	PROT:Q12879	GRIN2A	A	716	T	A716T	Pathogenic/Likely pathogenic	1	1	42	3
MUT:GRIN2A:Ala716Val	PROT:Q12879	GRIN2A	A	716	V	A716V	Likely pathogenic	1	1	42	3
MUT:GRIN2A:Ala727Thr	PROT:Q12879	GRIN2A	A	727	T	A727T	Pathogenic/Likely pathogenic	1	2	42	3
MUT:GRIN2A:Ala818Glu	PROT:Q12879	GRIN2A	A	818	E	A818E	Pathogenic/Likely pathogenic	1	1	42	64
MUT:GRIN2A:Ala818Val	PROT:Q12879	GRIN2A	A	818	V	A818V	Pathogenic/Likely pathogenic	1	1	42	64
MUT:GRIN2A:Ala922Gly	PROT:Q12879	GRIN2A	A	922	G	A922G	Likely benign	0	1	42	5
MUT:GRIN2A:Ala922Val	PROT:Q12879	GRIN2A	A	922	V	A922V	Likely benign	0	1	42	5
MUT:GRIN2A:Ala999Thr	PROT:Q12879	GRIN2A	A	999	T	A999T	Likely benign	0	1	42	21
MUT:GRIN2A:Arg1022Cys	PROT:Q12879	GRIN2A	R	1022	C	R1022C	Benign/Likely benign	0	1	42	3
MUT:GRIN2A:Arg1022His	PROT:Q12879	GRIN2A	R	1022	H	R1022H	Likely benign	0	1	42	3
MUT:GRIN2A:Arg1103Leu	PROT:Q12879	GRIN2A	R	1103	L	R1103L	Likely benign	0	1	42	2
MUT:GRIN2A:Arg1159Leu	PROT:Q12879	GRIN2A	R	1159	L	R1159L	Likely benign	0	1	42	25
MUT:GRIN2A:Arg1159Pro	PROT:Q12879	GRIN2A	R	1159	P	R1159P	Benign	0	2	42	25
MUT:GRIN2A:Arg1169Gly	PROT:Q12879	GRIN2A	R	1169	G	R1169G	Likely benign	0	1	42	15
MUT:GRIN2A:Arg1241Trp	PROT:Q12879	GRIN2A	R	1241	W	R1241W	Likely benign	0	1	42	5
MUT:GRIN2A:Arg1318Gln	PROT:Q12879	GRIN2A	R	1318	Q	R1318Q	Likely benign	0	1	42	7
MUT:GRIN2A:Arg1318Trp	PROT:Q12879	GRIN2A	R	1318	W	R1318W	Likely benign	0	1	42	7
MUT:GRIN2A:Arg1376Cys	PROT:Q12879	GRIN2A	R	1376	C	R1376C	Likely benign	0	1	42	11
MUT:GRIN2A:Arg1376Gly	PROT:Q12879	GRIN2A	R	1376	G	R1376G	Likely benign	0	1	42	11
MUT:GRIN2A:Arg1402Gln	PROT:Q12879	GRIN2A	R	1402	Q	R1402Q	Likely benign	0	1	42	14
MUT:GRIN2A:Arg1414Ser	PROT:Q12879	GRIN2A	R	1414	S	R1414S	Likely benign	0	1	42	2
MUT:GRIN2A:Arg1417Trp	PROT:Q12879	GRIN2A	R	1417	W	R1417W	Likely benign	0	1	42	1
MUT:GRIN2A:Arg1452Cys	PROT:Q12879	GRIN2A	R	1452	C	R1452C	Likely benign	0	2	42	7
MUT:GRIN2A:Arg1452His	PROT:Q12879	GRIN2A	R	1452	H	R1452H	Likely benign	0	1	42	7
MUT:GRIN2A:Arg244His	PROT:Q12879	GRIN2A	R	244	H	R244H	Likely benign	0	1	42	124
MUT:GRIN2A:Arg49Ser	PROT:Q12879	GRIN2A	R	49	S	R49S	Likely benign	0	1	42	55
MUT:GRIN2A:Arg504Trp	PROT:Q12879	GRIN2A	R	504	W	R504W	Pathogenic	1	1	42	2
MUT:GRIN2A:Arg518Cys	PROT:Q12879	GRIN2A	R	518	C	R518C	Pathogenic/Likely pathogenic	1	1	42	7
MUT:GRIN2A:Arg518His	PROT:Q12879	GRIN2A	R	518	H	R518H	Pathogenic/Likely pathogenic	1	2	42	7
MUT:GRIN2A:Arg518Leu	PROT:Q12879	GRIN2A	R	518	L	R518L	Pathogenic	1	1	42	7
MUT:GRIN2A:Arg695Gln	PROT:Q12879	GRIN2A	R	695	Q	R695Q	Pathogenic/Likely pathogenic	1	2	42	24
MUT:GRIN2A:Arg856Trp	PROT:Q12879	GRIN2A	R	856	W	R856W	Likely benign	0	1	42	26
MUT:GRIN2A:Arg899Pro	PROT:Q12879	GRIN2A	R	899	P	R899P	Likely benign	0	1	42	1
MUT:GRIN2A:Asn1066Tyr	PROT:Q12879	GRIN2A	N	1066	Y	N1066Y	Likely benign	0	1	42	39
MUT:GRIN2A:Asn1076Lys	PROT:Q12879	GRIN2A	N	1076	K	N1076K	Benign/Likely benign	0	1	42	29
MUT:GRIN2A:Asn1076Ser	PROT:Q12879	GRIN2A	N	1076	S	N1076S	Likely benign	0	1	42	29
MUT:GRIN2A:Asn1138Ile	PROT:Q12879	GRIN2A	N	1138	I	N1138I	Likely benign	0	1	42	20
MUT:GRIN2A:Asn1282Ser	PROT:Q12879	GRIN2A	N	1282	S	N1282S	Likely benign	0	1	42	9
MUT:GRIN2A:Asn1294Ile	PROT:Q12879	GRIN2A	N	1294	I	N1294I	Likely pathogenic	1	1	42	3
MUT:GRIN2A:Asn1420Ser	PROT:Q12879	GRIN2A	N	1420	S	N1420S	Likely benign	0	1	42	3
MUT:GRIN2A:Asn193Lys	PROT:Q12879	GRIN2A	N	193	K	N193K	Likely benign	0	1	42	73
MUT:GRIN2A:Asn340Lys	PROT:Q12879	GRIN2A	N	340	K	N340K	Likely benign	0	1	42	98
MUT:GRIN2A:Asn443Ser	PROT:Q12879	GRIN2A	N	443	S	N443S	Likely pathogenic	1	1	42	5
MUT:GRIN2A:Asn447Lys	PROT:Q12879	GRIN2A	N	447	K	N447K	Benign	0	1	42	9
MUT:GRIN2A:Asn451Ser	PROT:Q12879	GRIN2A	N	451	S	N451S	Likely benign	0	1	42	13
MUT:GRIN2A:Asn451Tyr	PROT:Q12879	GRIN2A	N	451	Y	N451Y	Likely benign	0	1	42	13
MUT:GRIN2A:Asn614Lys	PROT:Q12879	GRIN2A	N	614	K	N614K	Likely pathogenic	1	1	42	103
MUT:GRIN2A:Asn614Ser	PROT:Q12879	GRIN2A	N	614	S	N614S	Pathogenic/Likely pathogenic	1	2	42	103
MUT:GRIN2A:Asn615Lys	PROT:Q12879	GRIN2A	N	615	K	N615K	Likely pathogenic	1	1	42	104
MUT:GRIN2A:Asn615Ser	PROT:Q12879	GRIN2A	N	615	S	N615S	Likely pathogenic	1	1	42	104
MUT:GRIN2A:Asn648Ser	PROT:Q12879	GRIN2A	N	648	S	N648S	Pathogenic/Likely pathogenic	1	1	42	71
MUT:GRIN2A:Asn693Asp	PROT:Q12879	GRIN2A	N	693	D	N693D	Likely pathogenic	1	1	42	26
MUT:GRIN2A:Asn693Lys	PROT:Q12879	GRIN2A	N	693	K	N693K	Pathogenic	1	1	42	26
MUT:GRIN2A:Asn886Lys	PROT:Q12879	GRIN2A	N	886	K	N886K	Likely pathogenic	1	1	42	4
MUT:GRIN2A:Asn940Thr	PROT:Q12879	GRIN2A	N	940	T	N940T	Likely benign	0	1	42	2
MUT:GRIN2A:Asn976Ser	PROT:Q12879	GRIN2A	N	976	S	N976S	Likely benign	0	1	42	2
MUT:GRIN2A:Asp102Glu	PROT:Q12879	GRIN2A	D	102	E	D102E	Likely benign	0	1	42	2
MUT:GRIN2A:Asp105Gly	PROT:Q12879	GRIN2A	D	105	G	D105G	Likely benign	0	1	42	1
MUT:GRIN2A:Asp1075Asn	PROT:Q12879	GRIN2A	D	1075	N	D1075N	Benign	0	1	42	30
MUT:GRIN2A:Asp1115Glu	PROT:Q12879	GRIN2A	D	1115	E	D1115E	Likely benign	0	1	42	3
MUT:GRIN2A:Asp1131Glu	PROT:Q12879	GRIN2A	D	1131	E	D1131E	Likely benign	0	1	42	13
MUT:GRIN2A:Asp1293His	PROT:Q12879	GRIN2A	D	1293	H	D1293H	Likely benign	0	1	42	2
MUT:GRIN2A:Asp1297Asn	PROT:Q12879	GRIN2A	D	1297	N	D1297N	Likely benign	0	1	42	6
MUT:GRIN2A:Asp199Asn	PROT:Q12879	GRIN2A	D	199	N	D199N	Likely benign	0	1	42	79
MUT:GRIN2A:Asp476Asn	PROT:Q12879	GRIN2A	D	476	N	D476N	Likely benign	0	1	42	6
MUT:GRIN2A:Asp731Asn	PROT:Q12879	GRIN2A	D	731	N	D731N	Pathogenic/Likely pathogenic	1	2	42	1
MUT:GRIN2A:Asp776Asn	PROT:Q12879	GRIN2A	D	776	N	D776N	Likely pathogenic	1	1	42	39
MUT:GRIN2A:Asp776Tyr	PROT:Q12879	GRIN2A	D	776	Y	D776Y	Pathogenic/Likely pathogenic	1	1	42	39
MUT:GRIN2A:Asp884Gly	PROT:Q12879	GRIN2A	D	884	G	D884G	Likely benign	0	1	42	2
MUT:GRIN2A:Asp937Asn	PROT:Q12879	GRIN2A	D	937	N	D937N	Likely benign	0	1	42	1
MUT:GRIN2A:Cys1412Arg	PROT:Q12879	GRIN2A	C	1412	R	C1412R	Likely benign	0	1	42	4
MUT:GRIN2A:Cys1448Tyr	PROT:Q12879	GRIN2A	C	1448	Y	C1448Y	Likely benign	0	1	42	11
MUT:GRIN2A:Cys231Arg	PROT:Q12879	GRIN2A	C	231	R	C231R	Likely pathogenic	1	1	42	111
MUT:GRIN2A:Cys231Tyr	PROT:Q12879	GRIN2A	C	231	Y	C231Y	Likely pathogenic	1	2	42	111
MUT:GRIN2A:Cys429Arg	PROT:Q12879	GRIN2A	C	429	R	C429R	Pathogenic	1	1	42	9
MUT:GRIN2A:Cys436Arg	PROT:Q12879	GRIN2A	C	436	R	C436R	Pathogenic/Likely pathogenic	1	2	42	2
MUT:GRIN2A:Gln1134His	PROT:Q12879	GRIN2A	Q	1134	H	Q1134H	Likely benign	0	1	42	16
MUT:GRIN2A:Gln1134Lys	PROT:Q12879	GRIN2A	Q	1134	K	Q1134K	Likely benign	0	1	42	16
MUT:GRIN2A:Gln1265His	PROT:Q12879	GRIN2A	Q	1265	H	Q1265H	Benign/Likely benign	0	1	42	2
MUT:GRIN2A:Gln1273Lys	PROT:Q12879	GRIN2A	Q	1273	K	Q1273K	Likely benign	0	1	42	6
MUT:GRIN2A:Gln201His	PROT:Q12879	GRIN2A	Q	201	H	Q201H	Likely benign	0	1	42	81
MUT:GRIN2A:Glu1040Lys	PROT:Q12879	GRIN2A	E	1040	K	E1040K	Likely benign	0	1	42	15
MUT:GRIN2A:Glu1055Val	PROT:Q12879	GRIN2A	E	1055	V	E1055V	Likely benign	0	1	42	30
MUT:GRIN2A:Glu1137Val	PROT:Q12879	GRIN2A	E	1137	V	E1137V	Likely benign	0	1	42	19
MUT:GRIN2A:Glu1156Asp	PROT:Q12879	GRIN2A	E	1156	D	E1156D	Benign/Likely benign	0	1	42	28
MUT:GRIN2A:Glu211Asp	PROT:Q12879	GRIN2A	E	211	D	E211D	Likely benign	0	1	42	91
MUT:GRIN2A:Glu28Ala	PROT:Q12879	GRIN2A	E	28	A	E28A	Likely benign	0	1	42	76
MUT:GRIN2A:Glu328Gln	PROT:Q12879	GRIN2A	E	328	Q	E328Q	Likely benign	0	1	42	110
MUT:GRIN2A:Glu353Lys	PROT:Q12879	GRIN2A	E	353	K	E353K	Benign	0	1	42	85
MUT:GRIN2A:Glu58Asp	PROT:Q12879	GRIN2A	E	58	D	E58D	Likely benign	0	1	42	46
MUT:GRIN2A:Glu691Lys	PROT:Q12879	GRIN2A	E	691	K	E691K	Likely pathogenic	1	1	42	28
MUT:GRIN2A:Glu953Asp	PROT:Q12879	GRIN2A	E	953	D	E953D	Benign	0	1	42	10
MUT:GRIN2A:Gly1326Ser	PROT:Q12879	GRIN2A	G	1326	S	G1326S	Benign	0	1	42	1
MUT:GRIN2A:Gly1418Cys	PROT:Q12879	GRIN2A	G	1418	C	G1418C	Likely benign	0	1	42	2
MUT:GRIN2A:Gly449Trp	PROT:Q12879	GRIN2A	G	449	W	G449W	Benign	0	1	42	11
MUT:GRIN2A:Gly458Glu	PROT:Q12879	GRIN2A	G	458	E	G458E	Likely pathogenic	1	1	42	12
MUT:GRIN2A:Gly483Arg	PROT:Q12879	GRIN2A	G	483	R	G483R	Pathogenic/Likely pathogenic	1	1	42	13
MUT:GRIN2A:Gly498Ser	PROT:Q12879	GRIN2A	G	498	S	G498S	Pathogenic/Likely pathogenic	1	1	42	4
MUT:GRIN2A:Gly532Val	PROT:Q12879	GRIN2A	G	532	V	G532V	Likely pathogenic	1	1	42	21
MUT:GRIN2A:Gly56Ser	PROT:Q12879	GRIN2A	G	56	S	G56S	Likely benign	0	1	42	48
MUT:GRIN2A:Gly56Val	PROT:Q12879	GRIN2A	G	56	V	G56V	Likely benign	0	1	42	48
MUT:GRIN2A:Gly688Ala	PROT:Q12879	GRIN2A	G	688	A	G688A	Likely pathogenic	1	1	42	31
MUT:GRIN2A:Gly712Arg	PROT:Q12879	GRIN2A	G	712	R	G712R	Likely benign	0	1	42	7
MUT:GRIN2A:Gly740Trp	PROT:Q12879	GRIN2A	G	740	W	G740W	Likely pathogenic	1	1	42	3
MUT:GRIN2A:Gly760Ser	PROT:Q12879	GRIN2A	G	760	S	G760S	Pathogenic/Likely pathogenic	1	1	42	23
MUT:GRIN2A:Gly951Val	PROT:Q12879	GRIN2A	G	951	V	G951V	Benign/Likely benign	0	1	42	8
MUT:GRIN2A:His1058Asp	PROT:Q12879	GRIN2A	H	1058	D	H1058D	Likely benign	0	1	42	33
MUT:GRIN2A:His1190Leu	PROT:Q12879	GRIN2A	H	1190	L	H1190L	Likely benign	0	1	42	3
MUT:GRIN2A:His223Leu	PROT:Q12879	GRIN2A	H	223	L	H223L	Likely benign	0	1	42	103
MUT:GRIN2A:His358Asn	PROT:Q12879	GRIN2A	H	358	N	H358N	Likely benign	0	1	42	80
MUT:GRIN2A:His381Asn	PROT:Q12879	GRIN2A	H	381	N	H381N	Likely benign	0	1	42	57
MUT:GRIN2A:His381Tyr	PROT:Q12879	GRIN2A	H	381	Y	H381Y	Benign/Likely benign	0	1	42	57
MUT:GRIN2A:His595Arg	PROT:Q12879	GRIN2A	H	595	R	H595R	Likely benign	0	1	42	84
MUT:GRIN2A:His674Gln	PROT:Q12879	GRIN2A	H	674	Q	H674Q	Likely benign	0	1	42	45
MUT:GRIN2A:Ile1021Val	PROT:Q12879	GRIN2A	I	1021	V	I1021V	Likely benign	0	1	42	4
MUT:GRIN2A:Ile1117Met	PROT:Q12879	GRIN2A	I	1117	M	I1117M	Likely benign	0	1	42	1
MUT:GRIN2A:Ile1460Thr	PROT:Q12879	GRIN2A	I	1460	T	I1460T	Likely benign	0	1	42	1
MUT:GRIN2A:Ile1460Val	PROT:Q12879	GRIN2A	I	1460	V	I1460V	Likely benign	0	1	42	1
MUT:GRIN2A:Ile184Ser	PROT:Q12879	GRIN2A	I	184	S	I184S	Likely pathogenic	1	1	42	64
MUT:GRIN2A:Ile461Asn	PROT:Q12879	GRIN2A	I	461	N	I461N	Likely pathogenic	1	2	42	9
MUT:GRIN2A:Ile461Ser	PROT:Q12879	GRIN2A	I	461	S	I461S	Likely pathogenic	1	1	42	9
MUT:GRIN2A:Ile601Thr	PROT:Q12879	GRIN2A	I	601	T	I601T	Benign	0	1	42	90
MUT:GRIN2A:Ile654Thr	PROT:Q12879	GRIN2A	I	654	T	I654T	Pathogenic/Likely pathogenic	1	1	42	65
MUT:GRIN2A:Ile694Thr	PROT:Q12879	GRIN2A	I	694	T	I694T	Pathogenic/Likely pathogenic	1	1	42	25
MUT:GRIN2A:Ile755Val	PROT:Q12879	GRIN2A	I	755	V	I755V	Likely benign	0	1	42	18
MUT:GRIN2A:Ile763Met	PROT:Q12879	GRIN2A	I	763	M	I763M	Pathogenic	1	1	42	26
MUT:GRIN2A:Ile833Val	PROT:Q12879	GRIN2A	I	833	V	I833V	Benign	0	1	42	49
MUT:GRIN2A:Ile83Val	PROT:Q12879	GRIN2A	I	83	V	I83V	Likely benign	0	1	42	21
MUT:GRIN2A:Ile867Met	PROT:Q12879	GRIN2A	I	867	M	I867M	Likely benign	0	1	42	15
MUT:GRIN2A:Ile876Asn	PROT:Q12879	GRIN2A	I	876	N	I876N	Benign/Likely benign	0	1	42	6
MUT:GRIN2A:Ile876Phe	PROT:Q12879	GRIN2A	I	876	F	I876F	Likely benign	0	1	42	6
MUT:GRIN2A:Leu229Val	PROT:Q12879	GRIN2A	L	229	V	L229V	Likely benign	0	1	42	109
MUT:GRIN2A:Leu238Val	PROT:Q12879	GRIN2A	L	238	V	L238V	Likely benign	0	1	42	118
MUT:GRIN2A:Leu267Ile	PROT:Q12879	GRIN2A	L	267	I	L267I	Likely benign	0	1	42	147
MUT:GRIN2A:Leu411Gln	PROT:Q12879	GRIN2A	L	411	Q	L411Q	Likely pathogenic	1	1	42	27
MUT:GRIN2A:Leu611Gln	PROT:Q12879	GRIN2A	L	611	Q	L611Q	Pathogenic/Likely pathogenic	1	1	42	100
MUT:GRIN2A:Leu611Met	PROT:Q12879	GRIN2A	L	611	M	L611M	Pathogenic	1	1	42	100
MUT:GRIN2A:Leu642Arg	PROT:Q12879	GRIN2A	L	642	R	L642R	Likely pathogenic	1	1	42	77
MUT:GRIN2A:Leu642Met	PROT:Q12879	GRIN2A	L	642	M	L642M	Likely pathogenic	1	1	42	77
MUT:GRIN2A:Leu649Arg	PROT:Q12879	GRIN2A	L	649	R	L649R	Likely pathogenic	1	1	42	70
MUT:GRIN2A:Leu649Pro	PROT:Q12879	GRIN2A	L	649	P	L649P	Likely pathogenic	1	1	42	70
MUT:GRIN2A:Leu649Val	PROT:Q12879	GRIN2A	L	649	V	L649V	Pathogenic/Likely pathogenic	1	1	42	70
MUT:GRIN2A:Leu812Met	PROT:Q12879	GRIN2A	L	812	M	L812M	Pathogenic/Likely pathogenic	1	1	42	70
MUT:GRIN2A:Leu840Phe	PROT:Q12879	GRIN2A	L	840	F	L840F	Likely benign	0	1	42	42
MUT:GRIN2A:Leu98Phe	PROT:Q12879	GRIN2A	L	98	F	L98F	Likely pathogenic	1	1	42	6
MUT:GRIN2A:Lys1107Ile	PROT:Q12879	GRIN2A	K	1107	I	K1107I	Likely benign	0	1	42	2
MUT:GRIN2A:Lys1339Glu	PROT:Q12879	GRIN2A	K	1339	E	K1339E	Likely benign	0	1	42	14
MUT:GRIN2A:Lys1340Arg	PROT:Q12879	GRIN2A	K	1340	R	K1340R	Likely benign	0	1	42	15
MUT:GRIN2A:Lys221Arg	PROT:Q12879	GRIN2A	K	221	R	K221R	Benign/Likely benign	0	1	42	101
MUT:GRIN2A:Lys309Arg	PROT:Q12879	GRIN2A	K	309	R	K309R	Likely benign	0	1	42	129
MUT:GRIN2A:Lys317Gln	PROT:Q12879	GRIN2A	K	317	Q	K317Q	Likely benign	0	1	42	121
MUT:GRIN2A:Lys441Thr	PROT:Q12879	GRIN2A	K	441	T	K441T	Likely benign	0	1	42	3
MUT:GRIN2A:Lys590Asn	PROT:Q12879	GRIN2A	K	590	N	K590N	Benign	0	1	42	79
MUT:GRIN2A:Lys772Glu	PROT:Q12879	GRIN2A	K	772	E	K772E	Likely pathogenic	1	1	42	35
MUT:GRIN2A:Lys919Glu	PROT:Q12879	GRIN2A	K	919	E	K919E	Likely benign	0	1	42	2
MUT:GRIN2A:Met133Val	PROT:Q12879	GRIN2A	M	133	V	M133V	Likely benign	0	1	42	13
MUT:GRIN2A:Met1438Ile	PROT:Q12879	GRIN2A	M	1438	I	M1438I	Likely benign	0	1	42	15
MUT:GRIN2A:Met1438Thr	PROT:Q12879	GRIN2A	M	1438	T	M1438T	Likely benign	0	1	42	15
MUT:GRIN2A:Met1Ile	PROT:Q12879	GRIN2A	M	1	I	M1I	Likely pathogenic	1	1	42	103
MUT:GRIN2A:Met1Thr	PROT:Q12879	GRIN2A	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	42	103
MUT:GRIN2A:Met200Ile	PROT:Q12879	GRIN2A	M	200	I	M200I	Likely benign	0	1	42	80
MUT:GRIN2A:Met496Val	PROT:Q12879	GRIN2A	M	496	V	M496V	Likely pathogenic	1	1	42	6
MUT:GRIN2A:Met564Arg	PROT:Q12879	GRIN2A	M	564	R	M564R	Pathogenic	1	1	42	53
MUT:GRIN2A:Met653Ile	PROT:Q12879	GRIN2A	M	653	I	M653I	Likely pathogenic	1	1	42	66
MUT:GRIN2A:Met653Val	PROT:Q12879	GRIN2A	M	653	V	M653V	Likely pathogenic	1	1	42	66
MUT:GRIN2A:Met705Val	PROT:Q12879	GRIN2A	M	705	V	M705V	Likely pathogenic	1	1	42	14
MUT:GRIN2A:Met817Arg	PROT:Q12879	GRIN2A	M	817	R	M817R	Pathogenic/Likely pathogenic	1	1	42	65
MUT:GRIN2A:Met817Thr	PROT:Q12879	GRIN2A	M	817	T	M817T	Pathogenic/Likely pathogenic	1	1	42	65
MUT:GRIN2A:Met817Val	PROT:Q12879	GRIN2A	M	817	V	M817V	Pathogenic/Likely pathogenic	1	1	42	65
MUT:GRIN2A:Met894Lys	PROT:Q12879	GRIN2A	M	894	K	M894K	Likely benign	0	1	42	4
MUT:GRIN2A:Met932Thr	PROT:Q12879	GRIN2A	M	932	T	M932T	Likely benign	0	1	42	3
MUT:GRIN2A:Met932Val	PROT:Q12879	GRIN2A	M	932	V	M932V	Likely benign	0	1	42	3
MUT:GRIN2A:Phe147Ser	PROT:Q12879	GRIN2A	F	147	S	F147S	Likely benign	0	1	42	27
MUT:GRIN2A:Phe210Ser	PROT:Q12879	GRIN2A	F	210	S	F210S	Likely benign	0	1	42	90
MUT:GRIN2A:Phe637Leu	PROT:Q12879	GRIN2A	F	637	L	F637L	Likely pathogenic	1	1	42	82
MUT:GRIN2A:Phe652Val	PROT:Q12879	GRIN2A	F	652	V	F652V	Likely pathogenic	1	1	42	67
MUT:GRIN2A:Phe861Leu	PROT:Q12879	GRIN2A	F	861	L	F861L	Likely benign	0	1	42	21
MUT:GRIN2A:Pro1010Thr	PROT:Q12879	GRIN2A	P	1010	T	P1010T	Likely benign	0	1	42	15
MUT:GRIN2A:Pro1148Leu	PROT:Q12879	GRIN2A	P	1148	L	P1148L	Likely benign	0	1	42	30
MUT:GRIN2A:Pro13Leu	PROT:Q12879	GRIN2A	P	13	L	P13L	Likely benign	0	1	42	91
MUT:GRIN2A:Pro140Ala	PROT:Q12879	GRIN2A	P	140	A	P140A	Benign	0	1	42	20
MUT:GRIN2A:Pro140Leu	PROT:Q12879	GRIN2A	P	140	L	P140L	Likely benign	0	1	42	20
MUT:GRIN2A:Pro21Leu	PROT:Q12879	GRIN2A	P	21	L	P21L	Likely benign	0	1	42	83
MUT:GRIN2A:Pro327Thr	PROT:Q12879	GRIN2A	P	327	T	P327T	Likely benign	0	1	42	111
MUT:GRIN2A:Pro32Ser	PROT:Q12879	GRIN2A	P	32	S	P32S	Likely benign	0	1	42	72
MUT:GRIN2A:Pro336Ser	PROT:Q12879	GRIN2A	P	336	S	P336S	Benign/Likely benign	0	1	42	102
MUT:GRIN2A:Pro401Ala	PROT:Q12879	GRIN2A	P	401	A	P401A	Likely benign	0	1	42	37
MUT:GRIN2A:Pro552Arg	PROT:Q12879	GRIN2A	P	552	R	P552R	Pathogenic	1	1	42	41
MUT:GRIN2A:Pro552Gln	PROT:Q12879	GRIN2A	P	552	Q	P552Q	Likely pathogenic	1	1	42	41
MUT:GRIN2A:Pro594Ser	PROT:Q12879	GRIN2A	P	594	S	P594S	Benign	0	1	42	83
MUT:GRIN2A:Pro64Ser	PROT:Q12879	GRIN2A	P	64	S	P64S	Likely benign	0	1	42	40
MUT:GRIN2A:Pro699Ser	PROT:Q12879	GRIN2A	P	699	S	P699S	Likely pathogenic	1	2	42	20
MUT:GRIN2A:Pro79Arg	PROT:Q12879	GRIN2A	P	79	R	P79R	Likely pathogenic	1	2	42	25
MUT:GRIN2A:Ser1048Arg	PROT:Q12879	GRIN2A	S	1048	R	S1048R	Likely benign	0	1	42	23
MUT:GRIN2A:Ser1077Asn	PROT:Q12879	GRIN2A	S	1077	N	S1077N	Benign	0	1	42	28
MUT:GRIN2A:Ser1201Gly	PROT:Q12879	GRIN2A	S	1201	G	S1201G	Likely benign	0	1	42	3
MUT:GRIN2A:Ser1291Phe	PROT:Q12879	GRIN2A	S	1291	F	S1291F	Likely benign	0	1	42	0
MUT:GRIN2A:Ser1291Thr	PROT:Q12879	GRIN2A	S	1291	T	S1291T	Likely benign	0	1	42	0
MUT:GRIN2A:Ser1305Arg	PROT:Q12879	GRIN2A	S	1305	R	S1305R	Likely benign	0	1	42	14
MUT:GRIN2A:Ser1312Thr	PROT:Q12879	GRIN2A	S	1312	T	S1312T	Likely benign	0	1	42	13
MUT:GRIN2A:Ser1341Arg	PROT:Q12879	GRIN2A	S	1341	R	S1341R	Likely benign	0	1	42	16
MUT:GRIN2A:Ser1341Ile	PROT:Q12879	GRIN2A	S	1341	I	S1341I	Likely benign	0	1	42	16
MUT:GRIN2A:Ser1356Cys	PROT:Q12879	GRIN2A	S	1356	C	S1356C	Likely pathogenic	1	1	42	31
MUT:GRIN2A:Ser1370Pro	PROT:Q12879	GRIN2A	S	1370	P	S1370P	Likely benign	0	1	42	17
MUT:GRIN2A:Ser1384Leu	PROT:Q12879	GRIN2A	S	1384	L	S1384L	Likely benign	0	1	42	3
MUT:GRIN2A:Ser1390Leu	PROT:Q12879	GRIN2A	S	1390	L	S1390L	Likely benign	0	1	42	3
MUT:GRIN2A:Ser1399Gly	PROT:Q12879	GRIN2A	S	1399	G	S1399G	Likely benign	0	1	42	12
MUT:GRIN2A:Ser1416Ile	PROT:Q12879	GRIN2A	S	1416	I	S1416I	Likely benign	0	1	42	0
MUT:GRIN2A:Ser1425Leu	PROT:Q12879	GRIN2A	S	1425	L	S1425L	Likely benign	0	1	42	2
MUT:GRIN2A:Ser1440Pro	PROT:Q12879	GRIN2A	S	1440	P	S1440P	Likely benign	0	1	42	17
MUT:GRIN2A:Ser1459Gly	PROT:Q12879	GRIN2A	S	1459	G	S1459G	Pathogenic/Likely pathogenic	1	2	42	0
MUT:GRIN2A:Ser511Leu	PROT:Q12879	GRIN2A	S	511	L	S511L	Pathogenic/Likely pathogenic	1	1	42	0
MUT:GRIN2A:Ser547Pro	PROT:Q12879	GRIN2A	S	547	P	S547P	Pathogenic	1	1	42	36
MUT:GRIN2A:Ser554Arg	PROT:Q12879	GRIN2A	S	554	R	S554R	Pathogenic/Likely pathogenic	1	2	42	43
MUT:GRIN2A:Ser554Thr	PROT:Q12879	GRIN2A	S	554	T	S554T	Pathogenic	1	1	42	43
MUT:GRIN2A:Ser616Phe	PROT:Q12879	GRIN2A	S	616	F	S616F	Pathogenic	1	1	42	103
MUT:GRIN2A:Ser644Gly	PROT:Q12879	GRIN2A	S	644	G	S644G	Likely pathogenic	1	1	42	75
MUT:GRIN2A:Ser809Arg	PROT:Q12879	GRIN2A	S	809	R	S809R	Likely pathogenic	1	1	42	72
MUT:GRIN2A:Ser892Gly	PROT:Q12879	GRIN2A	S	892	G	S892G	Likely benign	0	1	42	2
MUT:GRIN2A:Ser912Cys	PROT:Q12879	GRIN2A	S	912	C	S912C	Likely benign	0	2	42	0
MUT:GRIN2A:Ser954Thr	PROT:Q12879	GRIN2A	S	954	T	S954T	Likely benign	0	1	42	11
MUT:GRIN2A:Thr1038Ile	PROT:Q12879	GRIN2A	T	1038	I	T1038I	Likely benign	0	1	42	13
MUT:GRIN2A:Thr1064Ala	PROT:Q12879	GRIN2A	T	1064	A	T1064A	Benign/Likely benign	0	2	42	39
MUT:GRIN2A:Thr1140Ile	PROT:Q12879	GRIN2A	T	1140	I	T1140I	Likely benign	0	1	42	22
MUT:GRIN2A:Thr1212Lys	PROT:Q12879	GRIN2A	T	1212	K	T1212K	Likely benign	0	1	42	11
MUT:GRIN2A:Thr1262Ser	PROT:Q12879	GRIN2A	T	1262	S	T1262S	Likely benign	0	2	42	5
MUT:GRIN2A:Thr1362Ser	PROT:Q12879	GRIN2A	T	1362	S	T1362S	Likely benign	0	1	42	25
MUT:GRIN2A:Thr1408Met	PROT:Q12879	GRIN2A	T	1408	M	T1408M	Likely benign	0	1	42	8
MUT:GRIN2A:Thr141Met	PROT:Q12879	GRIN2A	T	141	M	T141M	Benign/Likely benign	0	2	42	21
MUT:GRIN2A:Thr189Asn	PROT:Q12879	GRIN2A	T	189	N	T189N	Benign	0	1	42	69
MUT:GRIN2A:Thr189Ile	PROT:Q12879	GRIN2A	T	189	I	T189I	Likely benign	0	1	42	69
MUT:GRIN2A:Thr382Arg	PROT:Q12879	GRIN2A	T	382	R	T382R	Likely benign	0	1	42	56
MUT:GRIN2A:Thr513Ile	PROT:Q12879	GRIN2A	T	513	I	T513I	Pathogenic/Likely pathogenic	1	1	42	2
MUT:GRIN2A:Thr531Met	PROT:Q12879	GRIN2A	T	531	M	T531M	Pathogenic/Likely pathogenic	1	2	42	20
MUT:GRIN2A:Thr646Ala	PROT:Q12879	GRIN2A	T	646	A	T646A	Likely pathogenic	1	1	42	73
MUT:GRIN2A:Thr684Ala	PROT:Q12879	GRIN2A	T	684	A	T684A	Likely pathogenic	1	1	42	35
MUT:GRIN2A:Thr690Lys	PROT:Q12879	GRIN2A	T	690	K	T690K	Pathogenic/Likely pathogenic	1	2	42	29
MUT:GRIN2A:Thr749Ile	PROT:Q12879	GRIN2A	T	749	I	T749I	Likely pathogenic	1	1	42	12
MUT:GRIN2A:Thr888Met	PROT:Q12879	GRIN2A	T	888	M	T888M	Likely benign	0	1	42	2
MUT:GRIN2A:Thr995Ala	PROT:Q12879	GRIN2A	T	995	A	T995A	Likely benign	0	1	42	17
MUT:GRIN2A:Trp558Ser	PROT:Q12879	GRIN2A	W	558	S	W558S	Pathogenic/Likely pathogenic	1	1	42	47
MUT:GRIN2A:Tyr1267His	PROT:Q12879	GRIN2A	Y	1267	H	Y1267H	Likely benign	0	1	42	0
MUT:GRIN2A:Tyr1423Asp	PROT:Q12879	GRIN2A	Y	1423	D	Y1423D	Likely benign	0	1	42	0
MUT:GRIN2A:Tyr676Ser	PROT:Q12879	GRIN2A	Y	676	S	Y676S	Likely benign	0	1	42	43
MUT:GRIN2A:Tyr730Cys	PROT:Q12879	GRIN2A	Y	730	C	Y730C	Pathogenic	1	1	42	0
MUT:GRIN2A:Val1139Gly	PROT:Q12879	GRIN2A	V	1139	G	V1139G	Likely benign	0	1	42	21
MUT:GRIN2A:Val11Met	PROT:Q12879	GRIN2A	V	11	M	V11M	Likely benign	0	1	42	93
MUT:GRIN2A:Val187Ile	PROT:Q12879	GRIN2A	V	187	I	V187I	Likely benign	0	1	42	67
MUT:GRIN2A:Val329Ile	PROT:Q12879	GRIN2A	V	329	I	V329I	Likely benign	0	1	42	109
MUT:GRIN2A:Val409Leu	PROT:Q12879	GRIN2A	V	409	L	V409L	Likely pathogenic	1	1	42	29
MUT:GRIN2A:Val522Met	PROT:Q12879	GRIN2A	V	522	M	V522M	Likely pathogenic	1	1	42	11
MUT:GRIN2A:Val544Ile	PROT:Q12879	GRIN2A	V	544	I	V544I	Likely pathogenic	1	1	42	33
MUT:GRIN2A:Val617Met	PROT:Q12879	GRIN2A	V	617	M	V617M	Likely pathogenic	1	1	42	102
MUT:GRIN2A:Val69Leu	PROT:Q12879	GRIN2A	V	69	L	V69L	Likely benign	0	1	42	35
MUT:GRIN2A:Val734Leu	PROT:Q12879	GRIN2A	V	734	L	V734L	Pathogenic	1	1	42	3
MUT:GRIN2A:Val852Met	PROT:Q12879	GRIN2A	V	852	M	V852M	Likely benign	0	1	42	30
MUT:GRIN2A:Val967Leu	PROT:Q12879	GRIN2A	V	967	L	V967L	Benign/Likely benign	0	1	42	11
MUT:GRIN2C:Gly1110Ala	PROT:Q14957	GRIN2C	G	1110	A	G1110A	Likely benign	0	1	2	191
MUT:GRIN2C:Gly20Arg	PROT:Q14957	GRIN2C	G	20	R	G20R	Likely benign	0	1	2	897
MUT:GRIN2C:His1111Gln	PROT:Q14957	GRIN2C	H	1111	Q	H1111Q	Likely benign	0	1	2	192
MUT:GRIN2D:Ala1059Ser	PROT:O15399	GRIN2D	A	1059	S	A1059S	Likely benign	0	1	6	264
MUT:GRIN2D:Ala584Val	PROT:O15399	GRIN2D	A	584	V	A584V	Likely benign	0	1	6	36
MUT:GRIN2D:Ala678Asp	PROT:O15399	GRIN2D	A	678	D	A678D	Likely pathogenic	1	1	6	19
MUT:GRIN2D:Ala67Thr	PROT:O15399	GRIN2D	A	67	T	A67T	Likely benign	0	1	6	449
MUT:GRIN2D:Ala922Val	PROT:O15399	GRIN2D	A	922	V	A922V	Likely benign	0	1	6	127
MUT:GRIN2D:Asn844His	PROT:O15399	GRIN2D	N	844	H	N844H	Likely pathogenic	1	1	6	49
MUT:GRIN2D:Asp449Asn	PROT:O15399	GRIN2D	D	449	N	D449N	Likely pathogenic	1	1	6	67
MUT:GRIN2D:Cys24Ser	PROT:O15399	GRIN2D	C	24	S	C24S	Likely benign	0	1	6	492
MUT:GRIN2D:Gly1042Trp	PROT:O15399	GRIN2D	G	1042	W	G1042W	Likely benign	0	1	6	247
MUT:GRIN2D:His867Tyr	PROT:O15399	GRIN2D	H	867	Y	H867Y	Likely benign	0	1	6	72
MUT:GRIN2D:Leu22Gln	PROT:O15399	GRIN2D	L	22	Q	L22Q	Likely benign	0	1	6	494
MUT:GRIN2D:Leu677Val	PROT:O15399	GRIN2D	L	677	V	L677V	Likely pathogenic	1	1	6	20
MUT:GRIN2D:Met681Ile	PROT:O15399	GRIN2D	M	681	I	M681I	Pathogenic	1	1	6	16
MUT:GRIN2D:Met681Val	PROT:O15399	GRIN2D	M	681	V	M681V	Pathogenic/Likely pathogenic	1	1	6	16
MUT:GRIN2D:Pro1066Thr	PROT:O15399	GRIN2D	P	1066	T	P1066T	Likely benign	0	1	6	271
MUT:GRIN2D:Pro295Leu	PROT:O15399	GRIN2D	P	295	L	P295L	Likely benign	0	1	6	221
MUT:GRIN2D:Ser573Phe	PROT:O15399	GRIN2D	S	573	F	S573F	Pathogenic	1	1	6	47
MUT:GRIN2D:Ser694Arg	PROT:O15399	GRIN2D	S	694	R	S694R	Pathogenic	1	1	6	3
MUT:GRIN2D:Thr777Ile	PROT:O15399	GRIN2D	T	777	I	T777I	Likely pathogenic	1	1	6	18
MUT:GRIN2D:Val528Gly	PROT:O15399	GRIN2D	V	528	G	V528G	Likely benign	0	1	6	12
MUT:GRIN2D:Val667Ile	PROT:O15399	GRIN2D	V	667	I	V667I	Pathogenic/Likely pathogenic	1	1	6	30
MUT:GRIP1:Ala231Val	PROT:Q9Y3R0	GRIP1	A	231	V	A231V	Benign	0	1	4	188
MUT:GRIP1:Ala322Thr	PROT:Q9Y3R0	GRIP1	A	322	T	A322T	Benign	0	1	4	279
MUT:GRIP1:Arg352Lys	PROT:Q9Y3R0	GRIP1	R	352	K	R352K	Likely benign	0	1	4	257
MUT:GRIP1:Arg869Gln	PROT:Q9Y3R0	GRIP1	R	869	Q	R869Q	Benign/Likely benign	0	2	4	51
MUT:GRIP1:Gln821Glu	PROT:Q9Y3R0	GRIP1	Q	821	E	Q821E	Benign	0	2	4	19
MUT:GRIP1:Gly19Ala	PROT:Q9Y3R0	GRIP1	G	19	A	G19A	Benign	0	1	4	24
MUT:GRIP1:Pro596Arg	PROT:Q9Y3R0	GRIP1	P	596	R	P596R	Benign/Likely benign	0	2	4	13
MUT:GRIP1:Ser433Ile	PROT:Q9Y3R0	GRIP1	S	433	I	S433I	Likely pathogenic	1	1	4	176
MUT:GRIP1:Thr215Ala	PROT:Q9Y3R0	GRIP1	T	215	A	T215A	Likely benign	0	1	4	172
MUT:GRIP1:Val1005Met	PROT:Q9Y3R0	GRIP1	V	1005	M	V1005M	Likely benign	0	1	4	85
MUT:GRK1:Ala132Val	PROT:Q15835	GRK1	A	132	V	A132V	Likely benign	0	1	2	111
MUT:GRK1:Ala377Pro	PROT:Q15835	GRK1	A	377	P	A377P	Likely pathogenic	1	1	2	47
MUT:GRK1:Arg438Cys	PROT:Q15835	GRK1	R	438	C	R438C	Likely pathogenic	1	2	2	14
MUT:GRK1:Glu362Lys	PROT:Q15835	GRK1	E	362	K	E362K	Likely pathogenic	1	1	2	62
MUT:GRK1:Gly199Arg	PROT:Q15835	GRK1	G	199	R	G199R	Likely pathogenic	1	1	2	178
MUT:GRK1:Leu157Pro	PROT:Q15835	GRK1	L	157	P	L157P	Likely pathogenic	1	1	2	136
MUT:GRK1:Leu308Pro	PROT:Q15835	GRK1	L	308	P	L308P	Likely pathogenic	1	1	2	116
MUT:GRK1:Met469Ile	PROT:Q15835	GRK1	M	469	I	M469I	Likely benign	0	1	2	45
MUT:GRK1:Pro391His	PROT:Q15835	GRK1	P	391	H	P391H	Pathogenic/Likely pathogenic	1	1	2	33
MUT:GRK1:Val380Asp	PROT:Q15835	GRK1	V	380	D	V380D	Pathogenic/Likely pathogenic	1	2	2	44
MUT:GRK1:Val380Phe	PROT:Q15835	GRK1	V	380	F	V380F	Likely pathogenic	1	1	2	44
MUT:GRM1:Ala1008Val	PROT:Q13255	GRM1	A	1008	V	A1008V	Likely benign	0	1	10	39
MUT:GRM1:Gly884Glu	PROT:Q13255	GRM1	G	884	E	G884E	Benign/Likely benign	0	1	10	10
MUT:GRM1:Leu454Phe	PROT:Q13255	GRM1	L	454	F	L454F	Pathogenic	1	1	10	218
MUT:GRM1:Pro1015Ser	PROT:Q13255	GRM1	P	1015	S	P1015S	Likely benign	0	1	10	46
MUT:GRM1:Ser993Pro	PROT:Q13255	GRM1	S	993	P	S993P	Benign	0	2	10	24
MUT:GRM1:Thr824Arg	PROT:Q13255	GRM1	T	824	R	T824R	Pathogenic	1	1	10	29
MUT:GRM1:Tyr262Cys	PROT:Q13255	GRM1	Y	262	C	Y262C	Pathogenic	1	1	10	410
MUT:GRM1:Tyr792Cys	PROT:Q13255	GRM1	Y	792	C	Y792C	Likely pathogenic	1	1	10	61
MUT:GRM1:Val308Ile	PROT:Q13255	GRM1	V	308	I	V308I	Benign/Likely benign	0	1	10	364
MUT:GRM1:Val929Ile	PROT:Q13255	GRM1	V	929	I	V929I	Benign/Likely benign	0	1	10	35
MUT:GRM5:Ala995Val	PROT:P41594	GRM5	A	995	V	A995V	Likely benign	0	1	7	25
MUT:GRM7:Arg658Trp	PROT:Q14831	GRM7	R	658	W	R658W	Pathogenic/Likely pathogenic	1	1	8	17
MUT:GRM7:Glu891Lys	PROT:Q14831	GRM7	E	891	K	E891K	Pathogenic	1	1	8	9
MUT:GRM7:Ile154Thr	PROT:Q14831	GRM7	I	154	T	I154T	Pathogenic	1	1	8	69
MUT:GRM7:Ser832Arg	PROT:Q14831	GRM7	S	832	R	S832R	Likely pathogenic	1	1	8	30
MUT:GRM7:Thr675Lys	PROT:Q14831	GRM7	T	675	K	T675K	Pathogenic/Likely pathogenic	1	1	8	0
MUT:GRM7:Val65Met	PROT:Q14831	GRM7	V	65	M	V65M	Likely benign	0	1	8	158
MUT:GRPR:Cys6Ser	PROT:P30550	GRPR	C	6	S	C6S	Likely benign	0	1	1	348
MUT:GRPR:Leu262Val	PROT:P30550	GRPR	L	262	V	L262V	Likely benign	0	1	1	92
MUT:GRPR:Pro37Leu	PROT:P30550	GRPR	P	37	L	P37L	Likely benign	0	1	1	317
MUT:GSN:Ala576Gly	PROT:P06396	GSN	A	576	G	A576G	Benign/Likely benign	0	2	18	8
MUT:GSN:Ala78Thr	PROT:P06396	GSN	A	78	T	A78T	Benign	0	1	18	17
MUT:GSN:Arg144Gln	PROT:P06396	GSN	R	144	Q	R144Q	Likely benign	0	1	18	83
MUT:GSN:Arg430Cys	PROT:P06396	GSN	R	430	C	R430C	Benign/Likely benign	0	2	18	25
MUT:GSN:Arg617Leu	PROT:P06396	GSN	R	617	L	R617L	Benign	0	2	18	6
MUT:GSN:Asn160Lys	PROT:P06396	GSN	N	160	K	N160K	Pathogenic	1	1	18	79
MUT:GSN:Asn180Asp	PROT:P06396	GSN	N	180	D	N180D	Benign	0	1	18	59
MUT:GSN:Asp163Asn	PROT:P06396	GSN	D	163	N	D163N	Pathogenic/Likely pathogenic	1	1	18	76
MUT:GSN:Asp163Tyr	PROT:P06396	GSN	D	163	Y	D163Y	Pathogenic/Likely pathogenic	1	1	18	76
MUT:GSN:Asp608Asn	PROT:P06396	GSN	D	608	N	D608N	Likely benign	0	1	18	3
MUT:GSN:Gly505Arg	PROT:P06396	GSN	G	505	R	G505R	Benign/Likely benign	0	1	18	40
MUT:GSN:Gly55Arg	PROT:P06396	GSN	G	55	R	G55R	Benign	0	1	18	4
MUT:GSN:Ile625Thr	PROT:P06396	GSN	I	625	T	I625T	Benign/Likely benign	0	1	18	11
MUT:GSN:Lys10Arg	PROT:P06396	GSN	K	10	R	K10R	Benign	0	2	18	41
MUT:GSN:Lys546Arg	PROT:P06396	GSN	K	546	R	K546R	Benign/Likely benign	0	1	18	38
MUT:GSN:Thr316Asn	PROT:P06396	GSN	T	316	N	T316N	Likely benign	0	1	18	3
MUT:GSN:Thr512Ser	PROT:P06396	GSN	T	512	S	T512S	Benign	0	1	18	47
MUT:GSN:Thr565Met	PROT:P06396	GSN	T	565	M	T565M	Benign	0	1	18	19
MUT:GSN:Thr644Met	PROT:P06396	GSN	T	644	M	T644M	Benign/Likely benign	0	1	18	8
MUT:GSN:Thr682Met	PROT:P06396	GSN	T	682	M	T682M	Likely benign	0	1	18	28
MUT:GSN:Tyr250Cys	PROT:P06396	GSN	Y	250	C	Y250C	Pathogenic	1	1	18	11
MUT:GSN:Tyr423His	PROT:P06396	GSN	Y	423	H	Y423H	Pathogenic	1	1	18	32
MUT:GSN:Tyr496Cys	PROT:P06396	GSN	Y	496	C	Y496C	Benign/Likely benign	0	1	18	31
MUT:GSN:Val128Met	PROT:P06396	GSN	V	128	M	V128M	Benign/Likely benign	0	1	18	67
MUT:GSN:Val409Met	PROT:P06396	GSN	V	409	M	V409M	Benign/Likely benign	0	1	18	23
MUT:GSN:Val555Met	PROT:P06396	GSN	V	555	M	V555M	Benign/Likely benign	0	2	18	29
MUT:GSPT2:Val341Ile	PROT:Q8IYD1	GSPT2	V	341	I	V341I	Pathogenic	1	1	18	4
MUT:GSR:Ala20Val	PROT:P00390	GSR	A	20	V	A20V	Benign/Likely benign	0	1	18	138
MUT:GSR:Ala58Ser	PROT:P00390	GSR	A	58	S	A58S	Likely benign	0	1	18	100
MUT:GSR:Arg153Cys	PROT:P00390	GSR	R	153	C	R153C	Benign	0	1	18	5
MUT:GSR:Gly214Ser	PROT:P00390	GSR	G	214	S	G214S	Likely pathogenic	1	1	18	25
MUT:GSR:Gly374Ala	PROT:P00390	GSR	G	374	A	G374A	Pathogenic	1	1	18	3
MUT:GSR:Ile357Val	PROT:P00390	GSR	I	357	V	I357V	Benign/Likely benign	0	2	18	3
MUT:GSR:Pro14Gln	PROT:P00390	GSR	P	14	Q	P14Q	Benign/Likely benign	0	1	18	144
MUT:GSR:Pro5Ser	PROT:P00390	GSR	P	5	S	P5S	Likely benign	0	1	18	153
MUT:GSR:Ser15Gly	PROT:P00390	GSR	S	15	G	S15G	Benign	0	2	18	143
MUT:GSS:Arg125Cys	PROT:P48637	GSS	R	125	C	R125C	Pathogenic/Likely pathogenic	1	1	12	17
MUT:GSS:Arg125His	PROT:P48637	GSS	R	125	H	R125H	Pathogenic	1	1	12	17
MUT:GSS:Arg164Gln	PROT:P48637	GSS	R	164	Q	R164Q	Pathogenic	1	2	12	14
MUT:GSS:Arg267Trp	PROT:P48637	GSS	R	267	W	R267W	Pathogenic/Likely pathogenic	1	1	12	3
MUT:GSS:Arg283Cys	PROT:P48637	GSS	R	283	C	R283C	Pathogenic/Likely pathogenic	1	2	12	13
MUT:GSS:Asp219Ala	PROT:P48637	GSS	D	219	A	D219A	Pathogenic/Likely pathogenic	1	1	12	33
MUT:GSS:Asp219Gly	PROT:P48637	GSS	D	219	G	D219G	Pathogenic/Likely pathogenic	1	3	12	33
MUT:GSS:His290Arg	PROT:P48637	GSS	H	290	R	H290R	Likely benign	0	1	12	16
MUT:GSS:Tyr270Cys	PROT:P48637	GSS	Y	270	C	Y270C	Likely pathogenic	1	1	12	0
MUT:GSTP1:Ala114Val	PROT:P09211	GSTP1	A	114	V	A114V	Benign	0	10	19	2
MUT:GSTP1:Ile105Val	PROT:P09211	GSTP1	I	105	V	I105V	Benign	0	1	19	7
MUT:GSTZ1:Glu32Lys	PROT:O43708	GSTZ1	E	32	K	E32K	Benign	0	1	1	180
MUT:GSTZ1:Gly42Arg	PROT:O43708	GSTZ1	G	42	R	G42R	Benign	0	1	1	170
MUT:GSTZ1:Ile189Val	PROT:O43708	GSTZ1	I	189	V	I189V	Likely benign	0	1	1	23
MUT:GSTZ1:Met82Thr	PROT:O43708	GSTZ1	M	82	T	M82T	Benign	0	1	1	130
MUT:GSTZ1:Val195Ala	PROT:O43708	GSTZ1	V	195	A	V195A	Likely benign	0	1	1	17
MUT:GSTZ1:Val99Met	PROT:O43708	GSTZ1	V	99	M	V99M	Likely pathogenic	1	2	1	113
MUT:GTF2H5:Ile10Lys	PROT:Q6ZYL4	GTF2H5	I	10	K	I10K	Pathogenic	1	1	2	21
MUT:GTF2H5:Leu21Pro	PROT:Q6ZYL4	GTF2H5	L	21	P	L21P	Pathogenic	1	1	2	10
MUT:GTF3C1:Glu1366Lys	PROT:Q12789	GTF3C1	E	1366	K	E1366K	Likely pathogenic	1	1	15	113
MUT:GTF3C1:Pro2014Thr	PROT:Q12789	GTF3C1	P	2014	T	P2014T	Likely pathogenic	1	1	15	45
MUT:GTF3C3:Ala168Val	PROT:Q9Y5Q9	GTF3C3	A	168	V	A168V	Pathogenic	1	1	17	66
MUT:GTF3C3:Ala509Thr	PROT:Q9Y5Q9	GTF3C3	A	509	T	A509T	Pathogenic	1	1	17	25
MUT:GTF3C3:Arg807Cys	PROT:Q9Y5Q9	GTF3C3	R	807	C	R807C	Pathogenic	1	1	17	79
MUT:GTF3C3:Arg807His	PROT:Q9Y5Q9	GTF3C3	R	807	H	R807H	Pathogenic	1	1	17	79
MUT:GTF3C3:Asn70Ser	PROT:Q9Y5Q9	GTF3C3	N	70	S	N70S	Benign	0	7	17	3
MUT:GTF3C3:Cys172Gly	PROT:Q9Y5Q9	GTF3C3	C	172	G	C172G	Pathogenic	1	1	17	62
MUT:GTF3C3:Pro113Arg	PROT:Q9Y5Q9	GTF3C3	P	113	R	P113R	Likely benign	0	7	17	33
MUT:GTF3C3:Pro842Ala	PROT:Q9Y5Q9	GTF3C3	P	842	A	P842A	Likely benign	0	1	17	114
MUT:GTF3C3:Tyr479Cys	PROT:Q9Y5Q9	GTF3C3	Y	479	C	Y479C	Pathogenic	1	1	17	55
MUT:GTF3C3:Val427Phe	PROT:Q9Y5Q9	GTF3C3	V	427	F	V427F	Pathogenic	1	1	17	83
MUT:GUK1:Gly32Arg	PROT:Q16774	GUK1	G	32	R	G32R	Pathogenic	1	1	5	19
MUT:GUK1:Met1Arg	PROT:Q16774	GUK1	M	1	R	M1R	Pathogenic	1	1	5	1
MUT:GUSB:Ala298Val	PROT:P08236	GUSB	A	298	V	A298V	Likely pathogenic	1	1	5	43
MUT:GUSB:Ala468Thr	PROT:P08236	GUSB	A	468	T	A468T	Likely benign	0	1	5	100
MUT:GUSB:Ala619Val	PROT:P08236	GUSB	A	619	V	A619V	Pathogenic/Likely pathogenic	1	1	5	43
MUT:GUSB:Arg216Gln	PROT:P08236	GUSB	R	216	Q	R216Q	Likely pathogenic	1	1	5	125
MUT:GUSB:Arg216Trp	PROT:P08236	GUSB	R	216	W	R216W	Pathogenic/Likely pathogenic	1	1	5	125
MUT:GUSB:Arg357Leu	PROT:P08236	GUSB	R	357	L	R357L	Likely pathogenic	1	1	5	2
MUT:GUSB:Arg36Leu	PROT:P08236	GUSB	R	36	L	R36L	Likely pathogenic	1	1	5	3
MUT:GUSB:Arg374Cys	PROT:P08236	GUSB	R	374	C	R374C	Likely pathogenic	1	2	5	6
MUT:GUSB:Arg382Cys	PROT:P08236	GUSB	R	382	C	R382C	Pathogenic/Likely pathogenic	1	2	5	14
MUT:GUSB:Arg382His	PROT:P08236	GUSB	R	382	H	R382H	Pathogenic/Likely pathogenic	1	1	5	14
MUT:GUSB:Arg436Lys	PROT:P08236	GUSB	R	436	K	R436K	Likely pathogenic	1	1	5	68
MUT:GUSB:Arg577Leu	PROT:P08236	GUSB	R	577	L	R577L	Likely pathogenic	1	1	5	1
MUT:GUSB:Arg57Gln	PROT:P08236	GUSB	R	57	Q	R57Q	Likely benign	0	1	5	18
MUT:GUSB:Arg611Gln	PROT:P08236	GUSB	R	611	Q	R611Q	Pathogenic/Likely pathogenic	1	1	5	35
MUT:GUSB:Asp490Gly	PROT:P08236	GUSB	D	490	G	D490G	Likely pathogenic	1	1	5	86
MUT:GUSB:Glu102Lys	PROT:P08236	GUSB	E	102	K	E102K	Likely pathogenic	1	1	5	63
MUT:GUSB:Glu150Lys	PROT:P08236	GUSB	E	150	K	E150K	Likely pathogenic	1	1	5	111
MUT:GUSB:Glu646Gly	PROT:P08236	GUSB	E	646	G	E646G	Likely benign	0	1	5	70
MUT:GUSB:Gly136Arg	PROT:P08236	GUSB	G	136	R	G136R	Likely pathogenic	1	1	5	97
MUT:GUSB:Gly284Ser	PROT:P08236	GUSB	G	284	S	G284S	Likely benign	0	1	5	57
MUT:GUSB:His351Tyr	PROT:P08236	GUSB	H	351	Y	H351Y	Likely pathogenic	1	1	5	8
MUT:GUSB:His424Tyr	PROT:P08236	GUSB	H	424	Y	H424Y	Likely pathogenic	1	1	5	56
MUT:GUSB:Leu176Phe	PROT:P08236	GUSB	L	176	F	L176F	Pathogenic	1	4	5	137
MUT:GUSB:Leu649Pro	PROT:P08236	GUSB	L	649	P	L649P	Benign	0	1	5	73
MUT:GUSB:Lys350Asn	PROT:P08236	GUSB	K	350	N	K350N	Pathogenic	1	1	5	9
MUT:GUSB:Met1Arg	PROT:P08236	GUSB	M	1	R	M1R	Likely pathogenic	1	1	5	38
MUT:GUSB:Pro148Ser	PROT:P08236	GUSB	P	148	S	P148S	Pathogenic	1	1	5	109
MUT:GUSB:Ser485Phe	PROT:P08236	GUSB	S	485	F	S485F	Likely pathogenic	1	1	5	91
MUT:GUSB:Thr177Ile	PROT:P08236	GUSB	T	177	I	T177I	Pathogenic	1	1	5	138
MUT:GUSB:Thr311Met	PROT:P08236	GUSB	T	311	M	T311M	Likely benign	0	1	5	30
MUT:GUSB:Trp133Ser	PROT:P08236	GUSB	W	133	S	W133S	Likely pathogenic	1	1	5	94
MUT:GUSB:Trp627Cys	PROT:P08236	GUSB	W	627	C	W627C	Pathogenic/Likely pathogenic	1	2	5	51
MUT:GUSB:Trp63Cys	PROT:P08236	GUSB	W	63	C	W63C	Likely pathogenic	1	1	5	24
MUT:GUSB:Tyr508Cys	PROT:P08236	GUSB	Y	508	C	Y508C	Likely pathogenic	1	1	5	68
MUT:GUSB:Tyr626His	PROT:P08236	GUSB	Y	626	H	Y626H	Pathogenic	1	1	5	50
MUT:GYG1:Arg33Lys	PROT:P46976	GYG1	R	33	K	R33K	Likely benign	0	1	3	11
MUT:GYG1:Asp102His	PROT:P46976	GYG1	D	102	H	D102H	Pathogenic/Likely pathogenic	1	10	3	58
MUT:GYG1:Ile300Val	PROT:P46976	GYG1	I	300	V	I300V	Likely benign	0	1	3	37
MUT:GYG2:Asn14His	PROT:O15488	GYG2	N	14	H	N14H	Benign/Likely benign	0	1	5	406
MUT:GYG2:Gly163Arg	PROT:O15488	GYG2	G	163	R	G163R	Benign	0	2	5	257
MUT:GYG2:Ile380Thr	PROT:O15488	GYG2	I	380	T	I380T	Benign	0	1	5	40
MUT:GYS1:Asn626Ser	PROT:P13807	GYS1	N	626	S	N626S	Likely benign	0	1	48	10
MUT:GYS1:Glu539Lys	PROT:P13807	GYS1	E	539	K	E539K	Benign	0	2	48	53
MUT:GYS1:Met416Val	PROT:P13807	GYS1	M	416	V	M416V	Benign/Likely benign	0	1	48	2
MUT:GYS1:Val186Ile	PROT:P13807	GYS1	V	186	I	V186I	Benign	0	1	48	45
MUT:GZF1:Gln275Pro	PROT:Q9H116	GZF1	Q	275	P	Q275P	Benign	0	1	4	10
MUT:GZF1:Thr681Asn	PROT:Q9H116	GZF1	T	681	N	T681N	Benign	0	1	4	68
MUT:GZF1:Thr75Ser	PROT:Q9H116	GZF1	T	75	S	T75S	Likely benign	0	1	4	190
MUT:H3C1:Glu134Gln	PROT:P68431	H3C1	E	134	Q	E134Q	Likely pathogenic	1	1	45	11
MUT:H6PD:Ala448Thr	PROT:O95479	H6PD	A	448	T	A448T	Benign/Likely benign	0	1	7	1
MUT:H6PD:Arg453Gln	PROT:O95479	H6PD	R	453	Q	R453Q	Benign	0	1	7	3
MUT:H6PD:Arg455Gln	PROT:O95479	H6PD	R	455	Q	R455Q	Likely benign	0	1	7	5
MUT:H6PD:Asn569Ser	PROT:O95479	H6PD	N	569	S	N569S	Likely benign	0	1	7	119
MUT:H6PD:Asp151Ala	PROT:O95479	H6PD	D	151	A	D151A	Benign	0	1	7	29
MUT:H6PD:Gly359Asp	PROT:O95479	H6PD	G	359	D	G359D	Pathogenic	1	1	7	50
MUT:H6PD:Ile240Val	PROT:O95479	H6PD	I	240	V	I240V	Likely benign	0	1	7	17
MUT:H6PD:Ile344Val	PROT:O95479	H6PD	I	344	V	I344V	Likely benign	0	1	7	65
MUT:H6PD:Leu11Val	PROT:O95479	H6PD	L	11	V	L11V	Likely benign	0	1	7	106
MUT:H6PD:Pro335Leu	PROT:O95479	H6PD	P	335	L	P335L	Likely benign	0	1	7	74
MUT:H6PD:Val309Ile	PROT:O95479	H6PD	V	309	I	V309I	Likely benign	0	1	7	52
MUT:H6PD:Val340Ile	PROT:O95479	H6PD	V	340	I	V340I	Likely benign	0	1	7	69
MUT:HAAO:Arg108Gln	PROT:P46952	HAAO	R	108	Q	R108Q	Likely pathogenic	1	2	4	139
MUT:HAAO:Gly101Trp	PROT:P46952	HAAO	G	101	W	G101W	Likely pathogenic	1	2	4	146
MUT:HAAO:His47Gln	PROT:P46952	HAAO	H	47	Q	H47Q	Pathogenic	1	2	4	200
MUT:HAAO:Ile37Val	PROT:P46952	HAAO	I	37	V	I37V	Benign	0	1	4	210
MUT:HAAO:Leu84Pro	PROT:P46952	HAAO	L	84	P	L84P	Likely pathogenic	1	1	4	163
MUT:HAAO:Thr42Ser	PROT:P46952	HAAO	T	42	S	T42S	Benign	0	2	4	205
MUT:HAAO:Tyr214Cys	PROT:P46952	HAAO	Y	214	C	Y214C	Benign	0	1	4	33
MUT:HACD1:Met1Val	PROT:B0YJ81	HACD1	M	1	V	M1V	Benign	0	1	1	108
MUT:HACL1:Asn314Lys	PROT:Q9UJ83	HACL1	N	314	K	N314K	Pathogenic	1	1	16	51
MUT:HACL1:Ile151Phe	PROT:Q9UJ83	HACL1	I	151	F	I151F	Benign	0	11	16	15
MUT:HACL1:Tyr72Phe	PROT:Q9UJ83	HACL1	Y	72	F	Y72F	Likely benign	0	1	16	54
MUT:HACL1:Val438Leu	PROT:Q9UJ83	HACL1	V	438	L	V438L	Likely benign	0	1	16	73
MUT:HAVCR2:Arg140Leu	PROT:Q8TDQ0	HAVCR2	R	140	L	R140L	Benign	0	2	5	35
MUT:HAVCR2:Gly208Ala	PROT:Q8TDQ0	HAVCR2	G	208	A	G208A	Likely benign	0	1	5	30
MUT:HAVCR2:Ile107Phe	PROT:Q8TDQ0	HAVCR2	I	107	F	I107F	Likely benign	0	1	5	2
MUT:HAVCR2:Ile171Thr	PROT:Q8TDQ0	HAVCR2	I	171	T	I171T	Benign	0	1	5	66
MUT:HAVCR2:Pro277Leu	PROT:Q8TDQ0	HAVCR2	P	277	L	P277L	Benign	0	1	5	5
MUT:HAVCR2:Thr101Ile	PROT:Q8TDQ0	HAVCR2	T	101	I	T101I	Benign	0	2	5	4
MUT:HBE1:Ile76Val	PROT:P02100	HBE1	I	76	V	I76V	Likely benign	0	1	6	5
MUT:HBG1:Ala137Gly	PROT:P69891	HBG1	A	137	G	A137G	Benign	0	1	3	3
MUT:HBG1:Arg41Lys	PROT:P69891	HBG1	R	41	K	R41K	Likely benign	0	2	3	2
MUT:HBG1:Gln40Arg	PROT:P69891	HBG1	Q	40	R	Q40R	Likely benign	0	2	3	1
MUT:HBG1:Glu122Lys	PROT:P69891	HBG1	E	122	K	E122K	Likely benign	0	3	3	18
MUT:HBG1:Glu6Lys	PROT:P69891	HBG1	E	6	K	E6K	Likely benign	0	2	3	30
MUT:HBG1:Thr76Ile	PROT:P69891	HBG1	T	76	I	T76I	Benign	0	3	3	37
MUT:HBG2:Arg41Lys	PROT:P69892	HBG2	R	41	K	R41K	Likely benign	0	1	16	2
MUT:HBG2:Gly17Arg	PROT:P69892	HBG2	G	17	R	G17R	Likely benign	0	1	16	3
MUT:HBG2:His64Leu	PROT:P69892	HBG2	H	64	L	H64L	Pathogenic	1	1	16	2
MUT:HBG2:His64Tyr	PROT:P69892	HBG2	H	64	Y	H64Y	Likely pathogenic	1	1	16	2
MUT:HBG2:His93Tyr	PROT:P69892	HBG2	H	93	Y	H93Y	Pathogenic	1	1	16	3
MUT:HBG2:Leu29Met	PROT:P69892	HBG2	L	29	M	L29M	Pathogenic	1	1	16	7
MUT:HBG2:Lys60Glu	PROT:P69892	HBG2	K	60	E	K60E	Likely benign	0	1	16	0
MUT:HBG2:Lys67Gln	PROT:P69892	HBG2	K	67	Q	K67Q	Likely benign	0	1	16	0
MUT:HBG2:Val68Met	PROT:P69892	HBG2	V	68	M	V68M	Likely pathogenic	1	1	16	1
MUT:HCCS:Ala17Ser	PROT:P53701	HCCS	A	17	S	A17S	Likely benign	0	1	11	44
MUT:HCCS:Ala9Gly	PROT:P53701	HCCS	A	9	G	A9G	Likely benign	0	1	11	52
MUT:HCCS:Arg217Cys	PROT:P53701	HCCS	R	217	C	R217C	Likely pathogenic	1	2	11	11
MUT:HCCS:Arg217His	PROT:P53701	HCCS	R	217	H	R217H	Likely pathogenic	1	1	11	11
MUT:HCCS:Asn16Asp	PROT:P53701	HCCS	N	16	D	N16D	Likely benign	0	1	11	45
MUT:HCCS:Glu233Lys	PROT:P53701	HCCS	E	233	K	E233K	Benign	0	1	11	4
MUT:HCCS:Ile150Val	PROT:P53701	HCCS	I	150	V	I150V	Benign/Likely benign	0	1	11	5
MUT:HCCS:Met1Thr	PROT:P53701	HCCS	M	1	T	M1T	Likely pathogenic	1	1	11	60
MUT:HCCS:Met32Val	PROT:P53701	HCCS	M	32	V	M32V	Likely benign	0	1	11	29
MUT:HCN2:Ala141Ser	PROT:Q9UL51	HCN2	A	141	S	A141S	Likely benign	0	1	7	17
MUT:HCN2:Ala141Val	PROT:Q9UL51	HCN2	A	141	V	A141V	Likely benign	0	1	7	17
MUT:HCN2:Ala363Val	PROT:Q9UL51	HCN2	A	363	V	A363V	Pathogenic	1	1	7	49
MUT:HCN2:Ala705Thr	PROT:Q9UL51	HCN2	A	705	T	A705T	Likely benign	0	1	7	49
MUT:HCN2:Ala726Val	PROT:Q9UL51	HCN2	A	726	V	A726V	Likely benign	0	1	7	28
MUT:HCN2:Arg324His	PROT:Q9UL51	HCN2	R	324	H	R324H	Pathogenic	1	1	7	10
MUT:HCN2:Arg788Pro	PROT:Q9UL51	HCN2	R	788	P	R788P	Likely benign	0	1	7	34
MUT:HCN2:Arg855Trp	PROT:Q9UL51	HCN2	R	855	W	R855W	Likely benign	0	1	7	13
MUT:HCN2:Gln722Pro	PROT:Q9UL51	HCN2	Q	722	P	Q722P	Likely benign	0	1	7	32
MUT:HCN2:Gly137Arg	PROT:Q9UL51	HCN2	G	137	R	G137R	Likely benign	0	1	7	13
MUT:HCN2:Gly460Asp	PROT:Q9UL51	HCN2	G	460	D	G460D	Pathogenic	1	1	7	116
MUT:HCN2:Gly587Asp	PROT:Q9UL51	HCN2	G	587	D	G587D	Pathogenic	1	1	7	11
MUT:HCN2:Met374Leu	PROT:Q9UL51	HCN2	M	374	L	M374L	Pathogenic/Likely pathogenic	1	2	7	60
MUT:HCN2:Pro36Leu	PROT:Q9UL51	HCN2	P	36	L	P36L	Benign/Likely benign	0	1	7	86
MUT:HCN2:Pro493Leu	PROT:Q9UL51	HCN2	P	493	L	P493L	Pathogenic	1	1	7	83
MUT:HCN2:Pro716Leu	PROT:Q9UL51	HCN2	P	716	L	P716L	Likely benign	0	1	7	38
MUT:HCN2:Pro717Leu	PROT:Q9UL51	HCN2	P	717	L	P717L	Likely benign	0	1	7	37
MUT:HCN2:Pro721Leu	PROT:Q9UL51	HCN2	P	721	L	P721L	Likely benign	0	1	7	33
MUT:HCN2:Pro806Leu	PROT:Q9UL51	HCN2	P	806	L	P806L	Likely benign	0	1	7	52
MUT:HCN2:Pro810Ser	PROT:Q9UL51	HCN2	P	810	S	P810S	Pathogenic	1	1	7	56
MUT:HCN2:Pro840Gln	PROT:Q9UL51	HCN2	P	840	Q	P840Q	Likely benign	0	1	7	28
MUT:HCN2:Ser126Leu	PROT:Q9UL51	HCN2	S	126	L	S126L	Pathogenic	1	1	7	2
MUT:HCN2:Thr851Ala	PROT:Q9UL51	HCN2	T	851	A	T851A	Likely benign	0	1	7	17
MUT:HCN2:Val246Met	PROT:Q9UL51	HCN2	V	246	M	V246M	Likely pathogenic	1	2	7	57
MUT:HCN2:Val682Ile	PROT:Q9UL51	HCN2	V	682	I	V682I	Likely benign	0	1	7	72
MUT:HCN2:Val742Met	PROT:Q9UL51	HCN2	V	742	M	V742M	Likely benign	0	1	7	12
MUT:HCN4:Ala414Gly	PROT:Q9Y3Q4	HCN4	A	414	G	A414G	Pathogenic	1	1	8	117
MUT:HCN4:Ala485Val	PROT:Q9Y3Q4	HCN4	A	485	V	A485V	Pathogenic/Likely pathogenic	1	2	8	46
MUT:HCN4:Ala886Val	PROT:Q9Y3Q4	HCN4	A	886	V	A886V	Benign/Likely benign	0	3	8	35
MUT:HCN4:Ala944Val	PROT:Q9Y3Q4	HCN4	A	944	V	A944V	Benign	0	1	8	23
MUT:HCN4:Arg1196His	PROT:Q9Y3Q4	HCN4	R	1196	H	R1196H	Benign/Likely benign	0	1	8	121
MUT:HCN4:Arg375Cys	PROT:Q9Y3Q4	HCN4	R	375	C	R375C	Pathogenic	1	1	8	145
MUT:HCN4:Asp364Asn	PROT:Q9Y3Q4	HCN4	D	364	N	D364N	Benign/Likely benign	0	2	8	134
MUT:HCN4:Asp491His	PROT:Q9Y3Q4	HCN4	D	491	H	D491H	Likely pathogenic	1	1	8	40
MUT:HCN4:Cys478Tyr	PROT:Q9Y3Q4	HCN4	C	478	Y	C478Y	Likely pathogenic	1	1	8	53
MUT:HCN4:Gln737Arg	PROT:Q9Y3Q4	HCN4	Q	737	R	Q737R	Likely benign	0	1	8	183
MUT:HCN4:Glu580Asp	PROT:Q9Y3Q4	HCN4	E	580	D	E580D	Pathogenic	1	1	8	26
MUT:HCN4:Gly36Glu	PROT:Q9Y3Q4	HCN4	G	36	E	G36E	Benign/Likely benign	0	2	8	22
MUT:HCN4:Gly480Arg	PROT:Q9Y3Q4	HCN4	G	480	R	G480R	Pathogenic	1	1	8	51
MUT:HCN4:Gly480Ser	PROT:Q9Y3Q4	HCN4	G	480	S	G480S	Pathogenic/Likely pathogenic	1	3	8	51
MUT:HCN4:Gly480Val	PROT:Q9Y3Q4	HCN4	G	480	V	G480V	Likely pathogenic	1	1	8	51
MUT:HCN4:Gly482Arg	PROT:Q9Y3Q4	HCN4	G	482	R	G482R	Pathogenic/Likely pathogenic	1	2	8	49
MUT:HCN4:Gly482Glu	PROT:Q9Y3Q4	HCN4	G	482	E	G482E	Likely pathogenic	1	1	8	49
MUT:HCN4:Met1113Val	PROT:Q9Y3Q4	HCN4	M	1113	V	M1113V	Benign/Likely benign	0	3	8	38
MUT:HCN4:Pro1063Thr	PROT:Q9Y3Q4	HCN4	P	1063	T	P1063T	Likely benign	0	1	8	8
MUT:HCN4:Pro1117Leu	PROT:Q9Y3Q4	HCN4	P	1117	L	P1117L	Benign/Likely benign	0	2	8	42
MUT:HCN4:Pro883Arg	PROT:Q9Y3Q4	HCN4	P	883	R	P883R	Benign/Likely benign	0	3	8	38
MUT:HCN4:Pro890Ser	PROT:Q9Y3Q4	HCN4	P	890	S	P890S	Likely benign	0	1	8	31
MUT:HCN4:Ser568Thr	PROT:Q9Y3Q4	HCN4	S	568	T	S568T	Benign/Likely benign	0	2	8	14
MUT:HCN4:Ser672Arg	PROT:Q9Y3Q4	HCN4	S	672	R	S672R	Pathogenic	1	1	8	118
MUT:HCN4:Ser841Leu	PROT:Q9Y3Q4	HCN4	S	841	L	S841L	Likely benign	0	1	8	80
MUT:HCN4:Ser891Leu	PROT:Q9Y3Q4	HCN4	S	891	L	S891L	Likely benign	0	1	8	30
MUT:HCN4:Thr822Met	PROT:Q9Y3Q4	HCN4	T	822	M	T822M	Likely benign	0	1	8	99
MUT:HCN4:Tyr354Cys	PROT:Q9Y3Q4	HCN4	Y	354	C	Y354C	Pathogenic/Likely pathogenic	1	2	8	124
MUT:HCN4:Tyr481Cys	PROT:Q9Y3Q4	HCN4	Y	481	C	Y481C	Likely pathogenic	1	1	8	50
MUT:HCN4:Tyr481His	PROT:Q9Y3Q4	HCN4	Y	481	H	Y481H	Pathogenic/Likely pathogenic	1	2	8	50
MUT:HDAC1:Asn154Ser	PROT:Q13547	HDAC1	N	154	S	N154S	Likely pathogenic	1	1	22	11
MUT:HDAC6:Arg832His	PROT:Q9UBN7	HDAC6	R	832	H	R832H	Benign	0	1	21	17
MUT:HDAC6:Asp908Ala	PROT:Q9UBN7	HDAC6	D	908	A	D908A	Likely benign	0	1	21	15
MUT:HDAC6:Gly1083Asp	PROT:Q9UBN7	HDAC6	G	1083	D	G1083D	Likely benign	0	1	21	35
MUT:HDAC6:His632Tyr	PROT:Q9UBN7	HDAC6	H	632	Y	H632Y	Likely pathogenic	1	1	21	62
MUT:HDAC6:Ile929Thr	PROT:Q9UBN7	HDAC6	I	929	T	I929T	Benign/Likely benign	0	1	21	4
MUT:HDAC6:Leu508Ser	PROT:Q9UBN7	HDAC6	L	508	S	L508S	Likely benign	0	1	21	62
MUT:HDAC6:Ser1025Leu	PROT:Q9UBN7	HDAC6	S	1025	L	S1025L	Likely benign	0	1	21	4
MUT:HDAC6:Thr1034Ala	PROT:Q9UBN7	HDAC6	T	1034	A	T1034A	Likely benign	0	1	21	1
MUT:HEATR3:Cys134Arg	PROT:Q7Z4Q2	HEATR3	C	134	R	C134R	Pathogenic	1	2	6	1
MUT:HEATR3:Cys446Tyr	PROT:Q7Z4Q2	HEATR3	C	446	Y	C446Y	Pathogenic	1	2	6	105
MUT:HEATR3:Gly584Glu	PROT:Q7Z4Q2	HEATR3	G	584	E	G584E	Pathogenic/Likely pathogenic	1	2	6	33
MUT:HEATR3:Pro240Leu	PROT:Q7Z4Q2	HEATR3	P	240	L	P240L	Pathogenic	1	2	6	60
MUT:HECTD1:Ile1743Thr	PROT:Q9ULT8	HECTD1	I	1743	T	I1743T	Likely benign	0	1	55	8
MUT:HEG1:Arg905Gln	PROT:Q9ULI3	HEG1	R	905	Q	R905Q	Likely benign	0	1	10	388
MUT:HEG1:Thr562Ser	PROT:Q9ULI3	HEG1	T	562	S	T562S	Benign	0	2	10	326
MUT:HENMT1:Gly76Arg	PROT:Q5T8I9	HENMT1	G	76	R	G76R	Pathogenic	1	1	5	24
MUT:HEPACAM:Arg16Cys	PROT:Q14CZ8	HEPACAM	R	16	C	R16C	Likely benign	0	1	8	262
MUT:HEPACAM:Arg3Thr	PROT:Q14CZ8	HEPACAM	R	3	T	R3T	Benign/Likely benign	0	1	8	275
MUT:HEPACAM:Arg92Gln	PROT:Q14CZ8	HEPACAM	R	92	Q	R92Q	Pathogenic/Likely pathogenic	1	1	8	186
MUT:HEPACAM:Arg92Trp	PROT:Q14CZ8	HEPACAM	R	92	W	R92W	Pathogenic	1	2	8	186
MUT:HEPACAM:Arg98Cys	PROT:Q14CZ8	HEPACAM	R	98	C	R98C	Likely pathogenic	1	1	8	180
MUT:HEPACAM:Asn324Ser	PROT:Q14CZ8	HEPACAM	N	324	S	N324S	Benign	0	1	8	16
MUT:HEPACAM:Asp211Asn	PROT:Q14CZ8	HEPACAM	D	211	N	D211N	Pathogenic	1	1	8	67
MUT:HEPACAM:Gln284Arg	PROT:Q14CZ8	HEPACAM	Q	284	R	Q284R	Benign	0	1	8	6
MUT:HEPACAM:Glu301Asp	PROT:Q14CZ8	HEPACAM	E	301	D	E301D	Likely benign	0	1	8	6
MUT:HEPACAM:Gly89Arg	PROT:Q14CZ8	HEPACAM	G	89	R	G89R	Pathogenic	1	1	8	189
MUT:HEPACAM:Gly89Asp	PROT:Q14CZ8	HEPACAM	G	89	D	G89D	Likely pathogenic	1	1	8	189
MUT:HEPACAM:Gly89Ser	PROT:Q14CZ8	HEPACAM	G	89	S	G89S	Pathogenic/Likely pathogenic	1	3	8	189
MUT:HEPACAM:Met218Val	PROT:Q14CZ8	HEPACAM	M	218	V	M218V	Benign	0	3	8	60
MUT:HEPACAM:Ser12Phe	PROT:Q14CZ8	HEPACAM	S	12	F	S12F	Likely benign	0	1	8	266
MUT:HEPACAM:Ser196Tyr	PROT:Q14CZ8	HEPACAM	S	196	Y	S196Y	Pathogenic	1	1	8	82
MUT:HEPACAM:Ser376Thr	PROT:Q14CZ8	HEPACAM	S	376	T	S376T	Likely benign	0	1	8	0
MUT:HEPACAM:Tyr120Cys	PROT:Q14CZ8	HEPACAM	Y	120	C	Y120C	Likely pathogenic	1	1	8	158
MUT:HEPHL1:Arg224Gln	PROT:Q6MZM0	HEPHL1	R	224	Q	R224Q	Benign	0	1	1	685
MUT:HEPHL1:Arg432Gln	PROT:Q6MZM0	HEPHL1	R	432	Q	R432Q	Benign	0	1	1	477
MUT:HEPHL1:Arg81Cys	PROT:Q6MZM0	HEPHL1	R	81	C	R81C	Likely benign	0	1	1	828
MUT:HEPHL1:Asn251Asp	PROT:Q6MZM0	HEPHL1	N	251	D	N251D	Benign	0	2	1	658
MUT:HEPHL1:Asp920Glu	PROT:Q6MZM0	HEPHL1	D	920	E	D920E	Benign	0	1	1	11
MUT:HEPHL1:Leu1137Phe	PROT:Q6MZM0	HEPHL1	L	1137	F	L1137F	Benign	0	1	1	228
MUT:HEPHL1:Lys374Asn	PROT:Q6MZM0	HEPHL1	K	374	N	K374N	Benign	0	1	1	535
MUT:HEPHL1:Met703Ile	PROT:Q6MZM0	HEPHL1	M	703	I	M703I	Likely benign	0	1	1	206
MUT:HEPHL1:Thr175Ile	PROT:Q6MZM0	HEPHL1	T	175	I	T175I	Likely benign	0	1	1	734
MUT:HERC1:Ala1527Thr	PROT:Q15751	HERC1	A	1527	T	A1527T	Likely benign	0	1	42	6
MUT:HERC1:Ala2383Val	PROT:Q15751	HERC1	A	2383	V	A2383V	Benign/Likely benign	0	1	42	39
MUT:HERC1:Ala3165Ser	PROT:Q15751	HERC1	A	3165	S	A3165S	Benign/Likely benign	0	1	42	106
MUT:HERC1:Ala663Gly	PROT:Q15751	HERC1	A	663	G	A663G	Benign/Likely benign	0	2	42	624
MUT:HERC1:Arg1413Gln	PROT:Q15751	HERC1	R	1413	Q	R1413Q	Benign/Likely benign	0	2	42	15
MUT:HERC1:Arg2259His	PROT:Q15751	HERC1	R	2259	H	R2259H	Likely benign	0	1	42	80
MUT:HERC1:Arg3219Gln	PROT:Q15751	HERC1	R	3219	Q	R3219Q	Likely benign	0	1	42	92
MUT:HERC1:Arg3744Gln	PROT:Q15751	HERC1	R	3744	Q	R3744Q	Likely benign	0	3	42	113
MUT:HERC1:Arg4691Pro	PROT:Q15751	HERC1	R	4691	P	R4691P	Pathogenic	1	1	42	95
MUT:HERC1:Asn3352Asp	PROT:Q15751	HERC1	N	3352	D	N3352D	Likely benign	0	1	42	3
MUT:HERC1:Asp1332Asn	PROT:Q15751	HERC1	D	1332	N	D1332N	Likely benign	0	1	42	21
MUT:HERC1:Asp76Glu	PROT:Q15751	HERC1	D	76	E	D76E	Benign	0	1	42	1211
MUT:HERC1:Cys1282Tyr	PROT:Q15751	HERC1	C	1282	Y	C1282Y	Likely benign	0	1	42	5
MUT:HERC1:Glu3722Asp	PROT:Q15751	HERC1	E	3722	D	E3722D	Benign	0	1	42	91
MUT:HERC1:Gly1696Ala	PROT:Q15751	HERC1	G	1696	A	G1696A	Benign	0	1	42	175
MUT:HERC1:Gly1696Ser	PROT:Q15751	HERC1	G	1696	S	G1696S	Likely benign	0	1	42	175
MUT:HERC1:Gly2815Glu	PROT:Q15751	HERC1	G	2815	E	G2815E	Benign	0	1	42	46
MUT:HERC1:Gly4520Glu	PROT:Q15751	HERC1	G	4520	E	G4520E	Pathogenic	1	1	42	266
MUT:HERC1:Ile2220Val	PROT:Q15751	HERC1	I	2220	V	I2220V	Benign	0	1	42	119
MUT:HERC1:Ile5Val	PROT:Q15751	HERC1	I	5	V	I5V	Likely benign	0	1	42	1282
MUT:HERC1:Leu1682Val	PROT:Q15751	HERC1	L	1682	V	L1682V	Benign/Likely benign	0	1	42	161
MUT:HERC1:Lys1038Thr	PROT:Q15751	HERC1	K	1038	T	K1038T	Benign	0	9	42	249
MUT:HERC1:Ser2474Gly	PROT:Q15751	HERC1	S	2474	G	S2474G	Likely benign	0	1	42	16
MUT:HERC1:Thr1501Ala	PROT:Q15751	HERC1	T	1501	A	T1501A	Likely benign	0	1	42	16
MUT:HERC1:Thr3540Ser	PROT:Q15751	HERC1	T	3540	S	T3540S	Likely benign	0	1	42	71
MUT:HERC1:Val1981Ile	PROT:Q15751	HERC1	V	1981	I	V1981I	Likely benign	0	2	42	26
MUT:HERC1:Val2402Ile	PROT:Q15751	HERC1	V	2402	I	V2402I	Likely benign	0	1	42	20
MUT:HERC2:Ala2284Gly	PROT:O95714	HERC2	A	2284	G	A2284G	Likely benign	0	1	61	20
MUT:HERC2:Ala2306Gly	PROT:O95714	HERC2	A	2306	G	A2306G	Likely benign	0	1	61	2
MUT:HERC2:Arg1045Cys	PROT:O95714	HERC2	R	1045	C	R1045C	Likely benign	0	2	61	175
MUT:HERC2:Arg2126Cys	PROT:O95714	HERC2	R	2126	C	R2126C	Likely benign	0	1	61	115
MUT:HERC2:Arg2126Leu	PROT:O95714	HERC2	R	2126	L	R2126L	Likely benign	0	1	61	115
MUT:HERC2:Asn2717Ser	PROT:O95714	HERC2	N	2717	S	N2717S	Likely benign	0	1	61	55
MUT:HERC2:Asp318Tyr	PROT:O95714	HERC2	D	318	Y	D318Y	Benign	0	1	61	33
MUT:HERC2:Asp4267Glu	PROT:O95714	HERC2	D	4267	E	D4267E	Benign	0	1	61	129
MUT:HERC2:Asp4815Glu	PROT:O95714	HERC2	D	4815	E	D4815E	Likely benign	0	1	61	1
MUT:HERC2:Gly171Ser	PROT:O95714	HERC2	G	171	S	G171S	Likely benign	0	1	61	66
MUT:HERC2:His2176Arg	PROT:O95714	HERC2	H	2176	R	H2176R	Likely benign	0	1	61	128
MUT:HERC2:Ile1110Val	PROT:O95714	HERC2	I	1110	V	I1110V	Likely benign	0	1	61	110
MUT:HERC2:Lys2480Asn	PROT:O95714	HERC2	K	2480	N	K2480N	Likely benign	0	1	61	26
MUT:HERC2:Met1426Thr	PROT:O95714	HERC2	M	1426	T	M1426T	Likely benign	0	1	61	43
MUT:HERC2:Met1999Ile	PROT:O95714	HERC2	M	1999	I	M1999I	Likely benign	0	1	61	4
MUT:HERC2:Met2224Val	PROT:O95714	HERC2	M	2224	V	M2224V	Likely benign	0	1	61	80
MUT:HERC2:Met3442Ile	PROT:O95714	HERC2	M	3442	I	M3442I	Benign	0	1	61	20
MUT:HERC2:Met797Val	PROT:O95714	HERC2	M	797	V	M797V	Benign/Likely benign	0	1	61	88
MUT:HERC2:Pro2445Arg	PROT:O95714	HERC2	P	2445	R	P2445R	Likely benign	0	1	61	9
MUT:HERC2:Pro339Ser	PROT:O95714	HERC2	P	339	S	P339S	Likely benign	0	1	61	12
MUT:HERC2:Pro594Leu	PROT:O95714	HERC2	P	594	L	P594L	Pathogenic	1	1	61	47
MUT:HERC2:Tyr2523Cys	PROT:O95714	HERC2	Y	2523	C	Y2523C	Likely benign	0	1	61	69
MUT:HERC2:Val3657Ile	PROT:O95714	HERC2	V	3657	I	V3657I	Benign/Likely benign	0	1	61	103
MUT:HERC2:Val46Leu	PROT:O95714	HERC2	V	46	L	V46L	Likely benign	0	1	61	26
MUT:HEY1:Phe271Leu	PROT:Q9Y5J3	HEY1	F	271	L	F271L	Benign	0	1	3	108
MUT:HEY1:Thr285Met	PROT:Q9Y5J3	HEY1	T	285	M	T285M	Likely benign	0	1	3	122
MUT:HFE:Arg330Met	PROT:Q30201	HFE	R	330	M	R330M	Pathogenic	1	1	3	12
MUT:HFE:Gln283Pro	PROT:Q30201	HFE	Q	283	P	Q283P	Pathogenic/Likely pathogenic	1	3	3	59
MUT:HFE:Ile296Thr	PROT:Q30201	HFE	I	296	T	I296T	Likely benign	0	1	3	46
MUT:HFE:Leu183Pro	PROT:Q30201	HFE	L	183	P	L183P	Pathogenic/Likely pathogenic	1	2	3	17
MUT:HFM1:Arg452Gln	PROT:A2PYH4	HFM1	R	452	Q	R452Q	Pathogenic	1	1	1	387
MUT:HFM1:Arg562Ser	PROT:A2PYH4	HFM1	R	562	S	R562S	Pathogenic	1	1	1	497
MUT:HFM1:Asp770Asn	PROT:A2PYH4	HFM1	D	770	N	D770N	Benign	0	1	1	705
MUT:HFM1:Gly736Ser	PROT:A2PYH4	HFM1	G	736	S	G736S	Pathogenic	1	1	1	671
MUT:HFM1:Ile884Ser	PROT:A2PYH4	HFM1	I	884	S	I884S	Pathogenic	1	1	1	819
MUT:HFM1:Leu491Pro	PROT:A2PYH4	HFM1	L	491	P	L491P	Pathogenic	1	1	1	426
MUT:HFM1:Met1Thr	PROT:A2PYH4	HFM1	M	1	T	M1T	Likely pathogenic	1	1	1	64
MUT:HFM1:Val627Ala	PROT:A2PYH4	HFM1	V	627	A	V627A	Likely pathogenic	1	1	1	562
MUT:HGSNAT:Ala459Thr	PROT:Q68CP4	HGSNAT	A	459	T	A459T	Likely benign	0	1	1	179
MUT:HGSNAT:Ala489Glu	PROT:Q68CP4	HGSNAT	A	489	E	A489E	Pathogenic/Likely pathogenic	1	1	1	149
MUT:HGSNAT:Arg247Ser	PROT:Q68CP4	HGSNAT	R	247	S	R247S	Likely pathogenic	1	1	1	391
MUT:HGSNAT:Arg344His	PROT:Q68CP4	HGSNAT	R	344	H	R344H	Pathogenic/Likely pathogenic	1	1	1	294
MUT:HGSNAT:Asp279Ala	PROT:Q68CP4	HGSNAT	D	279	A	D279A	Likely pathogenic	1	1	1	359
MUT:HGSNAT:Cys76Phe	PROT:Q68CP4	HGSNAT	C	76	F	C76F	Likely pathogenic	1	1	1	562
MUT:HGSNAT:Glu471Lys	PROT:Q68CP4	HGSNAT	E	471	K	E471K	Pathogenic	1	3	1	167
MUT:HGSNAT:Gly133Ala	PROT:Q68CP4	HGSNAT	G	133	A	G133A	Pathogenic	1	1	1	505
MUT:HGSNAT:Gly173Asp	PROT:Q68CP4	HGSNAT	G	173	D	G173D	Pathogenic/Likely pathogenic	1	3	1	465
MUT:HGSNAT:Gly248Ala	PROT:Q68CP4	HGSNAT	G	248	A	G248A	Likely pathogenic	1	2	1	390
MUT:HGSNAT:Gly248Arg	PROT:Q68CP4	HGSNAT	G	248	R	G248R	Likely pathogenic	1	1	1	390
MUT:HGSNAT:Gly418Arg	PROT:Q68CP4	HGSNAT	G	418	R	G418R	Likely pathogenic	1	1	1	220
MUT:HGSNAT:Gly424Ser	PROT:Q68CP4	HGSNAT	G	424	S	G424S	Likely pathogenic	1	2	1	214
MUT:HGSNAT:Gly565Arg	PROT:Q68CP4	HGSNAT	G	565	R	G565R	Benign/Likely benign	0	1	1	73
MUT:HGSNAT:Leu420Phe	PROT:Q68CP4	HGSNAT	L	420	F	L420F	Likely benign	0	1	1	218
MUT:HGSNAT:Leu445Pro	PROT:Q68CP4	HGSNAT	L	445	P	L445P	Likely pathogenic	1	1	1	193
MUT:HGSNAT:Lys523Gln	PROT:Q68CP4	HGSNAT	K	523	Q	K523Q	Benign/Likely benign	0	12	1	115
MUT:HGSNAT:Pro228Thr	PROT:Q68CP4	HGSNAT	P	228	T	P228T	Likely benign	0	1	1	410
MUT:HGSNAT:Pro283Leu	PROT:Q68CP4	HGSNAT	P	283	L	P283L	Pathogenic/Likely pathogenic	1	4	1	355
MUT:HGSNAT:Pro571Leu	PROT:Q68CP4	HGSNAT	P	571	L	P571L	Likely pathogenic	1	1	1	67
MUT:HGSNAT:Ser518Phe	PROT:Q68CP4	HGSNAT	S	518	F	S518F	Pathogenic	1	1	1	120
MUT:HGSNAT:Ser541Leu	PROT:Q68CP4	HGSNAT	S	541	L	S541L	Pathogenic/Likely pathogenic	1	4	1	97
MUT:HGSNAT:Thr230Met	PROT:Q68CP4	HGSNAT	T	230	M	T230M	Benign	0	3	1	408
MUT:HGSNAT:Trp284Arg	PROT:Q68CP4	HGSNAT	W	284	R	W284R	Likely pathogenic	1	1	1	354
MUT:HGSNAT:Val160Ala	PROT:Q68CP4	HGSNAT	V	160	A	V160A	Likely benign	0	1	1	478
MUT:HGSNAT:Val614Ile	PROT:Q68CP4	HGSNAT	V	614	I	V614I	Benign	0	1	1	24
MUT:HHAT:Arg176Cys	PROT:Q5VTY9	HHAT	R	176	C	R176C	Benign	0	1	1	20
MUT:HHAT:Arg312His	PROT:Q5VTY9	HHAT	R	312	H	R312H	Benign	0	1	1	156
MUT:HHAT:Gly287Val	PROT:Q5VTY9	HHAT	G	287	V	G287V	Pathogenic	1	1	1	131
MUT:HHAT:Gly333Arg	PROT:Q5VTY9	HHAT	G	333	R	G333R	Benign/Likely benign	0	6	1	177
MUT:HHAT:His263Gln	PROT:Q5VTY9	HHAT	H	263	Q	H263Q	Likely benign	0	1	1	107
MUT:HHAT:Leu257Pro	PROT:Q5VTY9	HHAT	L	257	P	L257P	Pathogenic	1	1	1	101
MUT:HHAT:Met1Leu	PROT:Q5VTY9	HHAT	M	1	L	M1L	Likely pathogenic	1	1	1	155
MUT:HHAT:Ser182Asn	PROT:Q5VTY9	HHAT	S	182	N	S182N	Benign	0	1	1	26
MUT:HHAT:Thr371Ile	PROT:Q5VTY9	HHAT	T	371	I	T371I	Likely benign	0	1	1	215
MUT:HHAT:Tyr23Cys	PROT:Q5VTY9	HHAT	Y	23	C	Y23C	Likely benign	0	1	1	133
MUT:HIBADH:Ala241Ser	PROT:P31937	HIBADH	A	241	S	A241S	Likely benign	0	1	3	92
MUT:HIBCH:Arg4Cys	PROT:Q6NVY1	HIBCH	R	4	C	R4C	Likely benign	0	1	7	88
MUT:HIBCH:Arg66Trp	PROT:Q6NVY1	HIBCH	R	66	W	R66W	Likely pathogenic	1	1	7	26
MUT:HIBCH:Asp254Ile	PROT:Q6NVY1	HIBCH	D	254	I	D254I	Likely pathogenic	1	1	7	2
MUT:HIBCH:Asp287Gly	PROT:Q6NVY1	HIBCH	D	287	G	D287G	Likely pathogenic	1	1	7	14
MUT:HIBCH:Cys163Phe	PROT:Q6NVY1	HIBCH	C	163	F	C163F	Pathogenic/Likely pathogenic	1	1	7	51
MUT:HIBCH:Cys163Ser	PROT:Q6NVY1	HIBCH	C	163	S	C163S	Benign	0	2	7	51
MUT:HIBCH:Cys163Tyr	PROT:Q6NVY1	HIBCH	C	163	Y	C163Y	Likely pathogenic	1	1	7	51
MUT:HIBCH:Gln285Lys	PROT:Q6NVY1	HIBCH	Q	285	K	Q285K	Likely benign	0	1	7	16
MUT:HIBCH:Gln71Pro	PROT:Q6NVY1	HIBCH	Q	71	P	Q71P	Likely pathogenic	1	1	7	21
MUT:HIBCH:Glu245Asp	PROT:Q6NVY1	HIBCH	E	245	D	E245D	Benign	0	1	7	2
MUT:HIBCH:Gly179Asp	PROT:Q6NVY1	HIBCH	G	179	D	G179D	Likely pathogenic	1	1	7	67
MUT:HIBCH:Gly211Val	PROT:Q6NVY1	HIBCH	G	211	V	G211V	Likely benign	0	1	7	36
MUT:HIBCH:Gly317Glu	PROT:Q6NVY1	HIBCH	G	317	E	G317E	Likely pathogenic	1	1	7	16
MUT:HIBCH:Gly345Ser	PROT:Q6NVY1	HIBCH	G	345	S	G345S	Pathogenic	1	1	7	44
MUT:HIBCH:His153Tyr	PROT:Q6NVY1	HIBCH	H	153	Y	H153Y	Likely pathogenic	1	1	7	41
MUT:HIBCH:Leu124Pro	PROT:Q6NVY1	HIBCH	L	124	P	L124P	Likely pathogenic	1	1	7	12
MUT:HIBCH:Met1Thr	PROT:Q6NVY1	HIBCH	M	1	T	M1T	Benign	0	1	7	91
MUT:HIBCH:Phe259Leu	PROT:Q6NVY1	HIBCH	F	259	L	F259L	Likely pathogenic	1	1	7	1
MUT:HIBCH:Ser151Leu	PROT:Q6NVY1	HIBCH	S	151	L	S151L	Likely pathogenic	1	1	7	39
MUT:HIBCH:Thr143Lys	PROT:Q6NVY1	HIBCH	T	143	K	T143K	Likely benign	0	1	7	31
MUT:HIBCH:Thr21Ile	PROT:Q6NVY1	HIBCH	T	21	I	T21I	Likely benign	0	1	7	71
MUT:HIBCH:Thr305Ala	PROT:Q6NVY1	HIBCH	T	305	A	T305A	Pathogenic/Likely pathogenic	1	1	7	4
MUT:HIBCH:Thr46Ala	PROT:Q6NVY1	HIBCH	T	46	A	T46A	Benign	0	1	7	46
MUT:HID1:Arg433Trp	PROT:Q8IV36	HID1	R	433	W	R433W	Pathogenic	1	1	11	3
MUT:HID1:Gly187Asp	PROT:Q8IV36	HID1	G	187	D	G187D	Pathogenic	1	1	11	17
MUT:HIF1A:Ala654Val	PROT:Q16665	HIF1A	A	654	V	A654V	Likely pathogenic	1	1	34	5
MUT:HIF1A:Arg631His	PROT:Q16665	HIF1A	R	631	H	R631H	Likely pathogenic	1	1	34	5
MUT:HIF1A:Glu457Lys	PROT:Q16665	HIF1A	E	457	K	E457K	Likely pathogenic	1	1	34	1
MUT:HIF1A:Pro215Leu	PROT:Q16665	HIF1A	P	215	L	P215L	Likely pathogenic	1	1	34	30
MUT:HIF1A:Ser692Cys	PROT:Q16665	HIF1A	S	692	C	S692C	Likely pathogenic	1	1	34	0
MUT:HIPK4:Met1Val	PROT:Q8NE63	HIPK4	M	1	V	M1V	Likely pathogenic	1	1	6	336
MUT:HIVEP3:Ala13Thr	PROT:Q5T1R4	HIVEP3	A	13	T	A13T	Benign	0	1	29	202
MUT:HIVEP3:Arg1681His	PROT:Q5T1R4	HIVEP3	R	1681	H	R1681H	Benign	0	1	29	244
MUT:HIVEP3:Arg2001Gln	PROT:Q5T1R4	HIVEP3	R	2001	Q	R2001Q	Benign	0	1	29	5
MUT:HIVEP3:Arg2241Gln	PROT:Q5T1R4	HIVEP3	R	2241	Q	R2241Q	Benign	0	1	29	4
MUT:HIVEP3:Arg2323Gln	PROT:Q5T1R4	HIVEP3	R	2323	Q	R2323Q	Benign	0	1	29	50
MUT:HIVEP3:Arg2364His	PROT:Q5T1R4	HIVEP3	R	2364	H	R2364H	Likely benign	0	1	29	9
MUT:HIVEP3:Arg747Trp	PROT:Q5T1R4	HIVEP3	R	747	W	R747W	Likely benign	0	1	29	27
MUT:HIVEP3:Arg838Cys	PROT:Q5T1R4	HIVEP3	R	838	C	R838C	Likely benign	0	1	29	52
MUT:HIVEP3:Asn1990His	PROT:Q5T1R4	HIVEP3	N	1990	H	N1990H	Likely benign	0	1	29	16
MUT:HIVEP3:Asp2231Asn	PROT:Q5T1R4	HIVEP3	D	2231	N	D2231N	Likely benign	0	1	29	14
MUT:HIVEP3:Gln1087His	PROT:Q5T1R4	HIVEP3	Q	1087	H	Q1087H	Benign	0	1	29	37
MUT:HIVEP3:Glu1822Lys	PROT:Q5T1R4	HIVEP3	E	1822	K	E1822K	Likely benign	0	1	29	148
MUT:HIVEP3:Glu2139Lys	PROT:Q5T1R4	HIVEP3	E	2139	K	E2139K	Benign	0	1	29	6
MUT:HIVEP3:Glu2333Gly	PROT:Q5T1R4	HIVEP3	E	2333	G	E2333G	Benign	0	1	29	40
MUT:HIVEP3:Gly2208Glu	PROT:Q5T1R4	HIVEP3	G	2208	E	G2208E	Benign	0	1	29	37
MUT:HIVEP3:Gly2272Arg	PROT:Q5T1R4	HIVEP3	G	2272	R	G2272R	Benign	0	1	29	17
MUT:HIVEP3:Gly783Ser	PROT:Q5T1R4	HIVEP3	G	783	S	G783S	Likely benign	0	1	29	3
MUT:HIVEP3:His575Arg	PROT:Q5T1R4	HIVEP3	H	575	R	H575R	Benign	0	1	29	30
MUT:HIVEP3:Leu157Ile	PROT:Q5T1R4	HIVEP3	L	157	I	L157I	Likely benign	0	1	29	58
MUT:HIVEP3:Pro1567Ser	PROT:Q5T1R4	HIVEP3	P	1567	S	P1567S	Likely benign	0	1	29	130
MUT:HIVEP3:Pro1903Leu	PROT:Q5T1R4	HIVEP3	P	1903	L	P1903L	Benign	0	1	29	67
MUT:HIVEP3:Pro1980Gln	PROT:Q5T1R4	HIVEP3	P	1980	Q	P1980Q	Benign	0	1	29	10
MUT:HIVEP3:Pro2338Leu	PROT:Q5T1R4	HIVEP3	P	2338	L	P2338L	Benign	0	1	29	35
MUT:HIVEP3:Pro2376Ser	PROT:Q5T1R4	HIVEP3	P	2376	S	P2376S	Benign	0	1	29	3
MUT:HIVEP3:Pro2404Arg	PROT:Q5T1R4	HIVEP3	P	2404	R	P2404R	Benign	0	1	29	31
MUT:HIVEP3:Pro407Thr	PROT:Q5T1R4	HIVEP3	P	407	T	P407T	Likely benign	0	1	29	25
MUT:HIVEP3:Ser1057Thr	PROT:Q5T1R4	HIVEP3	S	1057	T	S1057T	Benign	0	1	29	7
MUT:HIVEP3:Ser2307Arg	PROT:Q5T1R4	HIVEP3	S	2307	R	S2307R	Likely benign	0	1	29	52
MUT:HIVEP3:Thr1910Met	PROT:Q5T1R4	HIVEP3	T	1910	M	T1910M	Benign	0	1	29	60
MUT:HIVEP3:Thr2339Ala	PROT:Q5T1R4	HIVEP3	T	2339	A	T2339A	Benign	0	1	29	34
MUT:HIVEP3:Val35Ile	PROT:Q5T1R4	HIVEP3	V	35	I	V35I	Benign	0	1	29	180
MUT:HJV:Ala310Gly	PROT:Q6ZVN8	HJV	A	310	G	A310G	Benign/Likely benign	0	1	2	20
MUT:HJV:Cys321Trp	PROT:Q6ZVN8	HJV	C	321	W	C321W	Likely pathogenic	1	1	2	31
MUT:HJV:Cys80Arg	PROT:Q6ZVN8	HJV	C	80	R	C80R	Pathogenic	1	1	2	89
MUT:HJV:Cys89Arg	PROT:Q6ZVN8	HJV	C	89	R	C89R	Likely pathogenic	1	1	2	80
MUT:HJV:Gln228Lys	PROT:Q6ZVN8	HJV	Q	228	K	Q228K	Likely benign	0	1	2	59
MUT:HJV:Glu3Asp	PROT:Q6ZVN8	HJV	E	3	D	E3D	Benign	0	1	2	166
MUT:HJV:Gly320Val	PROT:Q6ZVN8	HJV	G	320	V	G320V	Pathogenic	1	3	2	30
MUT:HJV:Gly99Arg	PROT:Q6ZVN8	HJV	G	99	R	G99R	Pathogenic/Likely pathogenic	1	1	2	70
MUT:HJV:Ile281Thr	PROT:Q6ZVN8	HJV	I	281	T	I281T	Pathogenic	1	1	2	9
MUT:HJV:Leu101Pro	PROT:Q6ZVN8	HJV	L	101	P	L101P	Pathogenic/Likely pathogenic	1	2	2	68
MUT:HJV:Met1Ile	PROT:Q6ZVN8	HJV	M	1	I	M1I	Likely pathogenic	1	1	2	168
MUT:HJV:Met1Leu	PROT:Q6ZVN8	HJV	M	1	L	M1L	Likely pathogenic	1	1	2	168
MUT:HJV:Phe103Leu	PROT:Q6ZVN8	HJV	F	103	L	F103L	Likely pathogenic	1	1	2	66
MUT:HJV:Phe170Ser	PROT:Q6ZVN8	HJV	F	170	S	F170S	Pathogenic	1	1	2	1
MUT:HJV:Trp191Ser	PROT:Q6ZVN8	HJV	W	191	S	W191S	Likely pathogenic	1	1	2	22
MUT:HK3:Glu679Lys	PROT:P52790	HK3	E	679	K	E679K	Likely benign	0	1	1	612
MUT:HKDC1:Arg337Trp	PROT:Q2TB90	HKDC1	R	337	W	R337W	Likely pathogenic	1	1	12	7
MUT:HKDC1:Asp84Asn	PROT:Q2TB90	HKDC1	D	84	N	D84N	Likely pathogenic	1	1	12	18
MUT:HKDC1:Gly101Trp	PROT:Q2TB90	HKDC1	G	101	W	G101W	Likely pathogenic	1	1	12	1
MUT:HKDC1:Ile334Asn	PROT:Q2TB90	HKDC1	I	334	N	I334N	Likely benign	0	1	12	4
MUT:HKDC1:Thr58Met	PROT:Q2TB90	HKDC1	T	58	M	T58M	Likely pathogenic	1	1	12	26
MUT:HKDC1:Tyr417Cys	PROT:Q2TB90	HKDC1	Y	417	C	Y417C	Likely pathogenic	1	1	12	83
MUT:HLA-B:Ala93Thr	PROT:P01889	HLA-B	A	93	T	A93T	Benign	0	1	15	10
MUT:HLA-B:Asp54Gly	PROT:P01889	HLA-B	D	54	G	D54G	Likely benign	0	1	15	3
MUT:HLA-B:Gly107Cys	PROT:P01889	HLA-B	G	107	C	G107C	Likely benign	0	1	15	16
MUT:HLA-B:Met331Val	PROT:P01889	HLA-B	M	331	V	M331V	Likely benign	0	14	15	4
MUT:HLA-B:Ser121Arg	PROT:P01889	HLA-B	S	121	R	S121R	Benign	0	1	15	2
MUT:HLA-B:Tyr140Ser	PROT:P01889	HLA-B	Y	140	S	Y140S	Benign	0	1	15	5
MUT:HLA-B:Tyr33His	PROT:P01889	HLA-B	Y	33	H	Y33H	Likely benign	0	1	15	18
MUT:HLX:Pro167Ser	PROT:Q14774	HLX	P	167	S	P167S	Likely benign	0	1	7	8
MUT:HMGA2:Pro92Ala	PROT:P52926	HMGA2	P	92	A	P92A	Likely benign	0	1	9	5
MUT:HMGCL:Arg41Gln	PROT:P35914	HMGCL	R	41	Q	R41Q	Pathogenic	1	2	12	7
MUT:HMGCL:Asp42Asn	PROT:P35914	HMGCL	D	42	N	D42N	Likely pathogenic	1	2	12	6
MUT:HMGCL:Asp42Gly	PROT:P35914	HMGCL	D	42	G	D42G	Likely pathogenic	1	2	12	6
MUT:HMGCL:Asp42His	PROT:P35914	HMGCL	D	42	H	D42H	Likely pathogenic	1	1	12	6
MUT:HMGCL:Cys174Tyr	PROT:P35914	HMGCL	C	174	Y	C174Y	Pathogenic/Likely pathogenic	1	1	12	16
MUT:HMGCL:Cys266Arg	PROT:P35914	HMGCL	C	266	R	C266R	Likely pathogenic	1	1	12	8
MUT:HMGCL:Gln148Arg	PROT:P35914	HMGCL	Q	148	R	Q148R	Benign/Likely benign	0	1	12	11
MUT:HMGCL:Glu145Val	PROT:P35914	HMGCL	E	145	V	E145V	Likely pathogenic	1	1	12	8
MUT:HMGCL:Glu279Lys	PROT:P35914	HMGCL	E	279	K	E279K	Likely pathogenic	1	2	12	21
MUT:HMGCL:Glu37Lys	PROT:P35914	HMGCL	E	37	K	E37K	Pathogenic/Likely pathogenic	1	1	12	11
MUT:HMGCL:His233Arg	PROT:P35914	HMGCL	H	233	R	H233R	Pathogenic/Likely pathogenic	1	3	12	25
MUT:HMGCL:Lys48Asn	PROT:P35914	HMGCL	K	48	N	K48N	Pathogenic	1	1	12	0
MUT:HMGCL:Met1Ile	PROT:P35914	HMGCL	M	1	I	M1I	Likely pathogenic	1	1	12	16
MUT:HMGCL:Met26Val	PROT:P35914	HMGCL	M	26	V	M26V	Likely benign	0	1	12	4
MUT:HMGCL:Phe76Leu	PROT:P35914	HMGCL	F	76	L	F76L	Likely pathogenic	1	1	12	2
MUT:HMGCL:Ser142Phe	PROT:P35914	HMGCL	S	142	F	S142F	Likely pathogenic	1	1	12	5
MUT:HMGCL:Ser201Tyr	PROT:P35914	HMGCL	S	201	Y	S201Y	Pathogenic/Likely pathogenic	1	1	12	3
MUT:HMGCL:Ser75Arg	PROT:P35914	HMGCL	S	75	R	S75R	Likely pathogenic	1	1	12	3
MUT:HMGCL:Thr89Ala	PROT:P35914	HMGCL	T	89	A	T89A	Likely benign	0	1	12	4
MUT:HMGCL:Tyr167Asn	PROT:P35914	HMGCL	Y	167	N	Y167N	Pathogenic	1	1	12	23
MUT:HMGCS2:Ala171Val	PROT:P54868	HMGCS2	A	171	V	A171V	Likely pathogenic	1	1	14	34
MUT:HMGCS2:Arg500His	PROT:P54868	HMGCS2	R	500	H	R500H	Pathogenic/Likely pathogenic	1	1	14	27
MUT:HMGCS2:Arg501Gln	PROT:P54868	HMGCS2	R	501	Q	R501Q	Likely pathogenic	1	1	14	28
MUT:HMGCS2:Arg501Pro	PROT:P54868	HMGCS2	R	501	P	R501P	Pathogenic/Likely pathogenic	1	1	14	28
MUT:HMGCS2:Asp136Gly	PROT:P54868	HMGCS2	D	136	G	D136G	Likely pathogenic	1	1	14	1
MUT:HMGCS2:Asp240Ala	PROT:P54868	HMGCS2	D	240	A	D240A	Likely pathogenic	1	1	14	22
MUT:HMGCS2:Asp240Val	PROT:P54868	HMGCS2	D	240	V	D240V	Likely pathogenic	1	1	14	22
MUT:HMGCS2:Glu74Lys	PROT:P54868	HMGCS2	E	74	K	E74K	Likely pathogenic	1	1	14	25
MUT:HMGCS2:Gly212Arg	PROT:P54868	HMGCS2	G	212	R	G212R	Pathogenic/Likely pathogenic	1	1	14	50
MUT:HMGCS2:Gly219Glu	PROT:P54868	HMGCS2	G	219	E	G219E	Likely pathogenic	1	1	14	43
MUT:HMGCS2:Gly388Arg	PROT:P54868	HMGCS2	G	388	R	G388R	Pathogenic	1	1	14	10
MUT:HMGCS2:Gly55Asp	PROT:P54868	HMGCS2	G	55	D	G55D	Likely pathogenic	1	1	14	6
MUT:HMGCS2:Phe174Leu	PROT:P54868	HMGCS2	F	174	L	F174L	Pathogenic/Likely pathogenic	1	1	14	37
MUT:HMGCS2:Phe364Ile	PROT:P54868	HMGCS2	F	364	I	F364I	Pathogenic/Likely pathogenic	1	1	14	10
MUT:HMGCS2:Ser311Tyr	PROT:P54868	HMGCS2	S	311	Y	S311Y	Likely pathogenic	1	1	14	1
MUT:HMGCS2:Ser375Cys	PROT:P54868	HMGCS2	S	375	C	S375C	Benign/Likely benign	0	1	14	21
MUT:HMGCS2:Thr302Ile	PROT:P54868	HMGCS2	T	302	I	T302I	Likely pathogenic	1	1	14	4
MUT:HMGCS2:Tyr167Cys	PROT:P54868	HMGCS2	Y	167	C	Y167C	Pathogenic	1	1	14	30
MUT:HMGCS2:Val141Asp	PROT:P54868	HMGCS2	V	141	D	V141D	Likely pathogenic	1	1	14	4
MUT:HMGCS2:Val253Ala	PROT:P54868	HMGCS2	V	253	A	V253A	Likely pathogenic	1	1	14	9
MUT:HMGCS2:Val54Met	PROT:P54868	HMGCS2	V	54	M	V54M	Likely pathogenic	1	1	14	5
MUT:HNF1A:Ala116Thr	PROT:P20823	HNF1A	A	116	T	A116T	Likely pathogenic	1	1	6	23
MUT:HNF1A:Ala116Val	PROT:P20823	HNF1A	A	116	V	A116V	Pathogenic	1	2	6	23
MUT:HNF1A:Ala180Val	PROT:P20823	HNF1A	A	180	V	A180V	Likely benign	0	1	6	16
MUT:HNF1A:Ala209Glu	PROT:P20823	HNF1A	A	209	E	A209E	Likely pathogenic	1	4	6	13
MUT:HNF1A:Ala239Thr	PROT:P20823	HNF1A	A	239	T	A239T	Likely pathogenic	1	1	6	8
MUT:HNF1A:Ala251Thr	PROT:P20823	HNF1A	A	251	T	A251T	Pathogenic	1	1	6	2
MUT:HNF1A:Ala276Asp	PROT:P20823	HNF1A	A	276	D	A276D	Pathogenic	1	3	6	27
MUT:HNF1A:Ala276Gly	PROT:P20823	HNF1A	A	276	G	A276G	Likely pathogenic	1	2	6	27
MUT:HNF1A:Ala406Val	PROT:P20823	HNF1A	A	406	V	A406V	Likely pathogenic	1	2	6	157
MUT:HNF1A:Ala501Ser	PROT:P20823	HNF1A	A	501	S	A501S	Likely pathogenic	1	1	6	252
MUT:HNF1A:Ala501Thr	PROT:P20823	HNF1A	A	501	T	A501T	Pathogenic	1	3	6	252
MUT:HNF1A:Ala98Val	PROT:P20823	HNF1A	A	98	V	A98V	Benign/Likely benign	0	5	6	5
MUT:HNF1A:Arg131Gln	PROT:P20823	HNF1A	R	131	Q	R131Q	Pathogenic	1	3	6	38
MUT:HNF1A:Arg131Gly	PROT:P20823	HNF1A	R	131	G	R131G	Likely pathogenic	1	1	6	38
MUT:HNF1A:Arg131Leu	PROT:P20823	HNF1A	R	131	L	R131L	Likely pathogenic	1	1	6	38
MUT:HNF1A:Arg131Pro	PROT:P20823	HNF1A	R	131	P	R131P	Pathogenic	1	1	6	38
MUT:HNF1A:Arg131Trp	PROT:P20823	HNF1A	R	131	W	R131W	Pathogenic	1	3	6	38
MUT:HNF1A:Arg159Gln	PROT:P20823	HNF1A	R	159	Q	R159Q	Pathogenic	1	4	6	37
MUT:HNF1A:Arg159Gly	PROT:P20823	HNF1A	R	159	G	R159G	Likely pathogenic	1	1	6	37
MUT:HNF1A:Arg159Trp	PROT:P20823	HNF1A	R	159	W	R159W	Pathogenic	1	5	6	37
MUT:HNF1A:Arg168His	PROT:P20823	HNF1A	R	168	H	R168H	Likely benign	0	2	6	28
MUT:HNF1A:Arg171Gly	PROT:P20823	HNF1A	R	171	G	R171G	Likely pathogenic	1	2	6	25
MUT:HNF1A:Arg200Gln	PROT:P20823	HNF1A	R	200	Q	R200Q	Pathogenic	1	5	6	4
MUT:HNF1A:Arg200Gly	PROT:P20823	HNF1A	R	200	G	R200G	Likely pathogenic	1	1	6	4
MUT:HNF1A:Arg200Trp	PROT:P20823	HNF1A	R	200	W	R200W	Pathogenic	1	3	6	4
MUT:HNF1A:Arg203Cys	PROT:P20823	HNF1A	R	203	C	R203C	Pathogenic	1	3	6	7
MUT:HNF1A:Arg203Gly	PROT:P20823	HNF1A	R	203	G	R203G	Likely pathogenic	1	1	6	7
MUT:HNF1A:Arg203His	PROT:P20823	HNF1A	R	203	H	R203H	Pathogenic	1	5	6	7
MUT:HNF1A:Arg203Leu	PROT:P20823	HNF1A	R	203	L	R203L	Pathogenic/Likely pathogenic	1	1	6	7
MUT:HNF1A:Arg203Ser	PROT:P20823	HNF1A	R	203	S	R203S	Pathogenic	1	2	6	7
MUT:HNF1A:Arg229Gln	PROT:P20823	HNF1A	R	229	Q	R229Q	Pathogenic	1	4	6	18
MUT:HNF1A:Arg229Gly	PROT:P20823	HNF1A	R	229	G	R229G	Likely pathogenic	1	1	6	18
MUT:HNF1A:Arg229Pro	PROT:P20823	HNF1A	R	229	P	R229P	Pathogenic	1	1	6	18
MUT:HNF1A:Arg263Cys	PROT:P20823	HNF1A	R	263	C	R263C	Pathogenic	1	2	6	14
MUT:HNF1A:Arg263His	PROT:P20823	HNF1A	R	263	H	R263H	Pathogenic	1	3	6	14
MUT:HNF1A:Arg263Leu	PROT:P20823	HNF1A	R	263	L	R263L	Pathogenic	1	1	6	14
MUT:HNF1A:Arg271Gln	PROT:P20823	HNF1A	R	271	Q	R271Q	Pathogenic	1	4	6	22
MUT:HNF1A:Arg271Gly	PROT:P20823	HNF1A	R	271	G	R271G	Likely pathogenic	1	2	6	22
MUT:HNF1A:Arg271Trp	PROT:P20823	HNF1A	R	271	W	R271W	Pathogenic	1	2	6	22
MUT:HNF1A:Arg272Cys	PROT:P20823	HNF1A	R	272	C	R272C	Pathogenic	1	3	6	23
MUT:HNF1A:Arg272His	PROT:P20823	HNF1A	R	272	H	R272H	Pathogenic	1	6	6	23
MUT:HNF1A:Arg272Ser	PROT:P20823	HNF1A	R	272	S	R272S	Pathogenic	1	1	6	23
MUT:HNF1A:Arg278Gln	PROT:P20823	HNF1A	R	278	Q	R278Q	Likely pathogenic	1	1	6	29
MUT:HNF1A:Arg54Gly	PROT:P20823	HNF1A	R	54	G	R54G	Pathogenic	1	1	6	16
MUT:HNF1A:Asn237Asp	PROT:P20823	HNF1A	N	237	D	N237D	Pathogenic	1	1	6	10
MUT:HNF1A:Asn237His	PROT:P20823	HNF1A	N	237	H	N237H	Likely pathogenic	1	1	6	10
MUT:HNF1A:Asn237Ser	PROT:P20823	HNF1A	N	237	S	N237S	Likely pathogenic	1	2	6	10
MUT:HNF1A:Asn257His	PROT:P20823	HNF1A	N	257	H	N257H	Likely pathogenic	1	1	6	8
MUT:HNF1A:Asn257Thr	PROT:P20823	HNF1A	N	257	T	N257T	Likely pathogenic	1	1	6	8
MUT:HNF1A:Asn62Ser	PROT:P20823	HNF1A	N	62	S	N62S	Benign	0	2	6	8
MUT:HNF1A:Asp135Ala	PROT:P20823	HNF1A	D	135	A	D135A	Likely pathogenic	1	2	6	42
MUT:HNF1A:Cys241Arg	PROT:P20823	HNF1A	C	241	R	C241R	Likely pathogenic	1	1	6	6
MUT:HNF1A:Cys241Gly	PROT:P20823	HNF1A	C	241	G	C241G	Likely pathogenic	1	1	6	6
MUT:HNF1A:Cys241Tyr	PROT:P20823	HNF1A	C	241	Y	C241Y	Likely pathogenic	1	1	6	6
MUT:HNF1A:Gln130Glu	PROT:P20823	HNF1A	Q	130	E	Q130E	Likely pathogenic	1	1	6	37
MUT:HNF1A:Gln130His	PROT:P20823	HNF1A	Q	130	H	Q130H	Likely pathogenic	1	1	6	37
MUT:HNF1A:Gln398Pro	PROT:P20823	HNF1A	Q	398	P	Q398P	Likely pathogenic	1	1	6	149
MUT:HNF1A:Gln9Leu	PROT:P20823	HNF1A	Q	9	L	Q9L	Likely pathogenic	1	1	6	61
MUT:HNF1A:Glu132Lys	PROT:P20823	HNF1A	E	132	K	E132K	Pathogenic	1	2	6	39
MUT:HNF1A:Glu132Val	PROT:P20823	HNF1A	E	132	V	E132V	Likely pathogenic	1	1	6	39
MUT:HNF1A:Glu261Lys	PROT:P20823	HNF1A	E	261	K	E261K	Likely pathogenic	1	2	6	12
MUT:HNF1A:Glu275Ala	PROT:P20823	HNF1A	E	275	A	E275A	Likely benign	0	2	6	26
MUT:HNF1A:Glu48Lys	PROT:P20823	HNF1A	E	48	K	E48K	Likely benign	0	2	6	22
MUT:HNF1A:Glu508Lys	PROT:P20823	HNF1A	E	508	K	E508K	Benign	0	5	6	259
MUT:HNF1A:Glu79Val	PROT:P20823	HNF1A	E	79	V	E79V	Benign	0	1	6	5
MUT:HNF1A:Gly207Asp	PROT:P20823	HNF1A	G	207	D	G207D	Pathogenic	1	2	6	11
MUT:HNF1A:Gly207Cys	PROT:P20823	HNF1A	G	207	C	G207C	Likely pathogenic	1	1	6	11
MUT:HNF1A:Gly207Val	PROT:P20823	HNF1A	G	207	V	G207V	Likely pathogenic	1	1	6	11
MUT:HNF1A:Gly20Ala	PROT:P20823	HNF1A	G	20	A	G20A	Likely pathogenic	1	1	6	50
MUT:HNF1A:Gly20Arg	PROT:P20823	HNF1A	G	20	R	G20R	Pathogenic	1	4	6	50
MUT:HNF1A:Gly20Glu	PROT:P20823	HNF1A	G	20	E	G20E	Likely pathogenic	1	1	6	50
MUT:HNF1A:Gly31Asp	PROT:P20823	HNF1A	G	31	D	G31D	Benign	0	6	6	39
MUT:HNF1A:Gly339Ser	PROT:P20823	HNF1A	G	339	S	G339S	Likely benign	0	2	6	90
MUT:HNF1A:Gly52Ala	PROT:P20823	HNF1A	G	52	A	G52A	Benign	0	3	6	18
MUT:HNF1A:Gly606Ser	PROT:P20823	HNF1A	G	606	S	G606S	Benign	0	2	6	357
MUT:HNF1A:His143Gln	PROT:P20823	HNF1A	H	143	Q	H143Q	Likely pathogenic	1	2	6	50
MUT:HNF1A:His143Tyr	PROT:P20823	HNF1A	H	143	Y	H143Y	Pathogenic	1	1	6	50
MUT:HNF1A:His147Asp	PROT:P20823	HNF1A	H	147	D	H147D	Likely pathogenic	1	1	6	49
MUT:HNF1A:His514Arg	PROT:P20823	HNF1A	H	514	R	H514R	Benign	0	3	6	265
MUT:HNF1A:His577Asp	PROT:P20823	HNF1A	H	577	D	H577D	Benign	0	3	6	328
MUT:HNF1A:His582Arg	PROT:P20823	HNF1A	H	582	R	H582R	Likely benign	0	1	6	333
MUT:HNF1A:Ile213Met	PROT:P20823	HNF1A	I	213	M	I213M	Likely pathogenic	1	1	6	17
MUT:HNF1A:Ile213Phe	PROT:P20823	HNF1A	I	213	F	I213F	Likely pathogenic	1	2	6	17
MUT:HNF1A:Ile27Leu	PROT:P20823	HNF1A	I	27	L	I27L	Benign/Likely benign	0	6	6	43
MUT:HNF1A:Leu107Arg	PROT:P20823	HNF1A	L	107	R	L107R	Pathogenic	1	2	6	14
MUT:HNF1A:Leu107Ile	PROT:P20823	HNF1A	L	107	I	L107I	Pathogenic	1	1	6	14
MUT:HNF1A:Leu107Pro	PROT:P20823	HNF1A	L	107	P	L107P	Likely pathogenic	1	1	6	14
MUT:HNF1A:Leu107Val	PROT:P20823	HNF1A	L	107	V	L107V	Pathogenic	1	1	6	14
MUT:HNF1A:Leu123Pro	PROT:P20823	HNF1A	L	123	P	L123P	Likely pathogenic	1	2	6	30
MUT:HNF1A:Leu123Val	PROT:P20823	HNF1A	L	123	V	L123V	Likely pathogenic	1	2	6	30
MUT:HNF1A:Leu12Arg	PROT:P20823	HNF1A	L	12	R	L12R	Likely pathogenic	1	1	6	58
MUT:HNF1A:Leu12Phe	PROT:P20823	HNF1A	L	12	F	L12F	Likely pathogenic	1	1	6	58
MUT:HNF1A:Leu12Val	PROT:P20823	HNF1A	L	12	V	L12V	Likely pathogenic	1	1	6	58
MUT:HNF1A:Leu139Phe	PROT:P20823	HNF1A	L	139	F	L139F	Likely pathogenic	1	2	6	46
MUT:HNF1A:Leu139Pro	PROT:P20823	HNF1A	L	139	P	L139P	Likely pathogenic	1	1	6	46
MUT:HNF1A:Leu139Val	PROT:P20823	HNF1A	L	139	V	L139V	Likely pathogenic	1	1	6	46
MUT:HNF1A:Leu162Pro	PROT:P20823	HNF1A	L	162	P	L162P	Likely pathogenic	1	2	6	34
MUT:HNF1A:Leu232Pro	PROT:P20823	HNF1A	L	232	P	L232P	Likely pathogenic	1	2	6	15
MUT:HNF1A:Leu232Val	PROT:P20823	HNF1A	L	232	V	L232V	Likely pathogenic	1	1	6	15
MUT:HNF1A:Leu26Pro	PROT:P20823	HNF1A	L	26	P	L26P	Likely pathogenic	1	1	6	44
MUT:HNF1A:Leu281Pro	PROT:P20823	HNF1A	L	281	P	L281P	Likely pathogenic	1	1	6	32
MUT:HNF1A:Leu389Val	PROT:P20823	HNF1A	L	389	V	L389V	Benign/Likely benign	0	4	6	140
MUT:HNF1A:Leu502His	PROT:P20823	HNF1A	L	502	H	L502H	Likely benign	0	1	6	253
MUT:HNF1A:Leu555Phe	PROT:P20823	HNF1A	L	555	F	L555F	Likely benign	0	4	6	306
MUT:HNF1A:Lys117Glu	PROT:P20823	HNF1A	K	117	E	K117E	Likely pathogenic	1	1	6	24
MUT:HNF1A:Lys120Asn	PROT:P20823	HNF1A	K	120	N	K120N	Likely pathogenic	1	1	6	27
MUT:HNF1A:Lys120Glu	PROT:P20823	HNF1A	K	120	E	K120E	Likely pathogenic	1	2	6	27
MUT:HNF1A:Lys158Glu	PROT:P20823	HNF1A	K	158	E	K158E	Likely pathogenic	1	1	6	38
MUT:HNF1A:Lys226Glu	PROT:P20823	HNF1A	K	226	E	K226E	Likely pathogenic	1	1	6	21
MUT:HNF1A:Met154Thr	PROT:P20823	HNF1A	M	154	T	M154T	Likely pathogenic	1	1	6	42
MUT:HNF1A:Met154Val	PROT:P20823	HNF1A	M	154	V	M154V	Likely pathogenic	1	1	6	42
MUT:HNF1A:Met1Leu	PROT:P20823	HNF1A	M	1	L	M1L	Pathogenic	1	1	6	69
MUT:HNF1A:Met1Thr	PROT:P20823	HNF1A	M	1	T	M1T	Pathogenic	1	2	6	69
MUT:HNF1A:Met1Val	PROT:P20823	HNF1A	M	1	V	M1V	Pathogenic	1	3	6	69
MUT:HNF1A:Met490Arg	PROT:P20823	HNF1A	M	490	R	M490R	Likely pathogenic	1	1	6	241
MUT:HNF1A:Phe268Ile	PROT:P20823	HNF1A	F	268	I	F268I	Likely pathogenic	1	1	6	19
MUT:HNF1A:Phe268Leu	PROT:P20823	HNF1A	F	268	L	F268L	Likely pathogenic	1	1	6	19
MUT:HNF1A:Phe268Ser	PROT:P20823	HNF1A	F	268	S	F268S	Likely pathogenic	1	3	6	19
MUT:HNF1A:Pro112Leu	PROT:P20823	HNF1A	P	112	L	P112L	Pathogenic	1	3	6	19
MUT:HNF1A:Pro224His	PROT:P20823	HNF1A	P	224	H	P224H	Pathogenic	1	1	6	23
MUT:HNF1A:Pro224Ser	PROT:P20823	HNF1A	P	224	S	P224S	Likely pathogenic	1	3	6	23
MUT:HNF1A:Pro291Ala	PROT:P20823	HNF1A	P	291	A	P291A	Benign	0	2	6	42
MUT:HNF1A:Pro291Arg	PROT:P20823	HNF1A	P	291	R	P291R	Benign	0	2	6	42
MUT:HNF1A:Pro291Gln	PROT:P20823	HNF1A	P	291	Q	P291Q	Benign	0	2	6	42
MUT:HNF1A:Pro291Ser	PROT:P20823	HNF1A	P	291	S	P291S	Likely benign	0	4	6	42
MUT:HNF1A:Pro33Leu	PROT:P20823	HNF1A	P	33	L	P33L	Likely pathogenic	1	1	6	37
MUT:HNF1A:Pro379Ala	PROT:P20823	HNF1A	P	379	A	P379A	Benign	0	4	6	130
MUT:HNF1A:Pro379Arg	PROT:P20823	HNF1A	P	379	R	P379R	Pathogenic	1	2	6	130
MUT:HNF1A:Pro379His	PROT:P20823	HNF1A	P	379	H	P379H	Benign	0	2	6	130
MUT:HNF1A:Pro379Ser	PROT:P20823	HNF1A	P	379	S	P379S	Benign	0	1	6	130
MUT:HNF1A:Pro447Leu	PROT:P20823	HNF1A	P	447	L	P447L	Pathogenic	1	3	6	198
MUT:HNF1A:Pro519Leu	PROT:P20823	HNF1A	P	519	L	P519L	Pathogenic	1	4	6	270
MUT:HNF1A:Pro94Leu	PROT:P20823	HNF1A	P	94	L	P94L	Likely pathogenic	1	3	6	1
MUT:HNF1A:Ser142Phe	PROT:P20823	HNF1A	S	142	F	S142F	Pathogenic	1	1	6	49
MUT:HNF1A:Ser142Tyr	PROT:P20823	HNF1A	S	142	Y	S142Y	Likely pathogenic	1	1	6	49
MUT:HNF1A:Ser145Phe	PROT:P20823	HNF1A	S	145	F	S145F	Pathogenic	1	2	6	51
MUT:HNF1A:Ser249Pro	PROT:P20823	HNF1A	S	249	P	S249P	Likely pathogenic	1	1	6	0
MUT:HNF1A:Ser487Asn	PROT:P20823	HNF1A	S	487	N	S487N	Benign	0	4	6	238
MUT:HNF1A:Ser574Gly	PROT:P20823	HNF1A	S	574	G	S574G	Benign	0	3	6	325
MUT:HNF1A:Ser594Gly	PROT:P20823	HNF1A	S	594	G	S594G	Benign	0	1	6	345
MUT:HNF1A:Ser594Ile	PROT:P20823	HNF1A	S	594	I	S594I	Pathogenic	1	3	6	345
MUT:HNF1A:Ser6Asn	PROT:P20823	HNF1A	S	6	N	S6N	Pathogenic	1	1	6	64
MUT:HNF1A:Ser6Cys	PROT:P20823	HNF1A	S	6	C	S6C	Likely pathogenic	1	1	6	64
MUT:HNF1A:Thr10Pro	PROT:P20823	HNF1A	T	10	P	T10P	Likely pathogenic	1	1	6	60
MUT:HNF1A:Thr260Arg	PROT:P20823	HNF1A	T	260	R	T260R	Likely pathogenic	1	1	6	11
MUT:HNF1A:Thr260Lys	PROT:P20823	HNF1A	T	260	K	T260K	Likely pathogenic	1	1	6	11
MUT:HNF1A:Thr260Met	PROT:P20823	HNF1A	T	260	M	T260M	Pathogenic	1	3	6	11
MUT:HNF1A:Thr515Lys	PROT:P20823	HNF1A	T	515	K	T515K	Benign	0	1	6	266
MUT:HNF1A:Trp165Arg	PROT:P20823	HNF1A	W	165	R	W165R	Likely pathogenic	1	1	6	31
MUT:HNF1A:Trp206Arg	PROT:P20823	HNF1A	W	206	R	W206R	Likely pathogenic	1	2	6	10
MUT:HNF1A:Tyr122Cys	PROT:P20823	HNF1A	Y	122	C	Y122C	Likely pathogenic	1	3	6	29
MUT:HNF1A:Tyr218Cys	PROT:P20823	HNF1A	Y	218	C	Y218C	Pathogenic	1	1	6	22
MUT:HNF1A:Val115Leu	PROT:P20823	HNF1A	V	115	L	V115L	Likely pathogenic	1	3	6	22
MUT:HNF1A:Val133Met	PROT:P20823	HNF1A	V	133	M	V133M	Likely pathogenic	1	1	6	40
MUT:HNF1A:Val173Met	PROT:P20823	HNF1A	V	173	M	V173M	Likely pathogenic	1	1	6	23
MUT:HNF1A:Val233Leu	PROT:P20823	HNF1A	V	233	L	V233L	Pathogenic	1	2	6	14
MUT:HNF1A:Val246Gly	PROT:P20823	HNF1A	V	246	G	V246G	Likely pathogenic	1	2	6	1
MUT:HNF1A:Val246Leu	PROT:P20823	HNF1A	V	246	L	V246L	Pathogenic	1	1	6	1
MUT:HNF1A:Val264Ala	PROT:P20823	HNF1A	V	264	A	V264A	Likely pathogenic	1	1	6	15
MUT:HNF1A:Val264Phe	PROT:P20823	HNF1A	V	264	F	V264F	Likely pathogenic	1	3	6	15
MUT:HNF1A:Val617Ile	PROT:P20823	HNF1A	V	617	I	V617I	Benign	0	2	6	368
MUT:HNMT:Gly60Asp	PROT:P50135	HNMT	G	60	D	G60D	Pathogenic	1	1	2	50
MUT:HNMT:Ile288Thr	PROT:P50135	HNMT	I	288	T	I288T	Likely benign	0	1	2	4
MUT:HNMT:Leu208Pro	PROT:P50135	HNMT	L	208	P	L208P	Likely pathogenic	1	2	2	76
MUT:HNRNPDL:Asp378Asn	PROT:O14979	HNRNPDL	D	378	N	D378N	Pathogenic/Likely pathogenic	1	1	30	64
MUT:HNRNPDL:Asp378His	PROT:O14979	HNRNPDL	D	378	H	D378H	Pathogenic/Likely pathogenic	1	2	30	64
MUT:HNRNPDL:Leu42Phe	PROT:O14979	HNRNPDL	L	42	F	L42F	Benign/Likely benign	0	1	30	18
MUT:HNRNPDL:Leu42Pro	PROT:O14979	HNRNPDL	L	42	P	L42P	Benign/Likely benign	0	1	30	18
MUT:HNRNPDL:Thr119Ile	PROT:O14979	HNRNPDL	T	119	I	T119I	Benign	0	1	30	0
MUT:HNRNPH1:Arg114Trp	PROT:P31943	HNRNPH1	R	114	W	R114W	Likely pathogenic	1	1	33	7
MUT:HNRNPH1:Arg206Gln	PROT:P31943	HNRNPH1	R	206	Q	R206Q	Pathogenic	1	1	33	4
MUT:HNRNPH1:Arg206Trp	PROT:P31943	HNRNPH1	R	206	W	R206W	Pathogenic	1	1	33	4
MUT:HNRNPH2:Arg114Trp	PROT:P55795	HNRNPH2	R	114	W	R114W	Pathogenic	1	1	27	7
MUT:HNRNPH2:Arg206Gln	PROT:P55795	HNRNPH2	R	206	Q	R206Q	Pathogenic	1	2	27	4
MUT:HNRNPH2:Arg206Trp	PROT:P55795	HNRNPH2	R	206	W	R206W	Pathogenic/Likely pathogenic	1	3	27	4
MUT:HNRNPH2:Arg212Thr	PROT:P55795	HNRNPH2	R	212	T	R212T	Likely pathogenic	1	1	27	2
MUT:HNRNPH2:Arg224Gly	PROT:P55795	HNRNPH2	R	224	G	R224G	Likely benign	0	1	27	12
MUT:HNRNPH2:Arg29Cys	PROT:P55795	HNRNPH2	R	29	C	R29C	Likely pathogenic	1	1	27	6
MUT:HNRNPH2:Glu439Asp	PROT:P55795	HNRNPH2	E	439	D	E439D	Likely benign	0	1	27	90
MUT:HNRNPH2:Leu264Phe	PROT:P55795	HNRNPH2	L	264	F	L264F	Likely benign	0	1	27	2
MUT:HNRNPH2:Pro209Arg	PROT:P55795	HNRNPH2	P	209	R	P209R	Likely pathogenic	1	1	27	1
MUT:HNRNPH2:Pro209Leu	PROT:P55795	HNRNPH2	P	209	L	P209L	Pathogenic	1	1	27	1
MUT:HNRNPH2:Ser257Thr	PROT:P55795	HNRNPH2	S	257	T	S257T	Likely benign	0	1	27	0
MUT:HNRNPH2:Ser431Gly	PROT:P55795	HNRNPH2	S	431	G	S431G	Likely benign	0	1	27	82
MUT:HNRNPM:Gly26Ser	PROT:P52272	HNRNPM	G	26	S	G26S	Likely benign	0	1	52	3
MUT:HNRNPR:Ala125Thr	PROT:O43390	HNRNPR	A	125	T	A125T	Likely benign	0	1	44	1
MUT:HNRNPR:Arg554Gly	PROT:O43390	HNRNPR	R	554	G	R554G	Likely benign	0	1	44	29
MUT:HNRNPR:Arg585His	PROT:O43390	HNRNPR	R	585	H	R585H	Pathogenic	1	1	44	1
MUT:HNRNPR:Gly453Ala	PROT:O43390	HNRNPR	G	453	A	G453A	Likely benign	0	1	44	17
MUT:HNRNPR:Gly519Val	PROT:O43390	HNRNPR	G	519	V	G519V	Likely benign	0	1	44	64
MUT:HNRNPR:Ile446Val	PROT:O43390	HNRNPR	I	446	V	I446V	Likely benign	0	1	44	10
MUT:HNRNPUL2:Pro53Ser	PROT:Q1KMD3	HNRNPUL2	P	53	S	P53S	Likely benign	0	1	30	108
MUT:HOOK3:Asn75Lys	PROT:Q86VS8	HOOK3	N	75	K	N75K	Likely pathogenic	1	1	14	69
MUT:HOXA10:Pro122Ser	PROT:P31260	HOXA10	P	122	S	P122S	Benign	0	1	6	201
MUT:HOXA1:Asp51His	PROT:P49639	HOXA1	D	51	H	D51H	Likely benign	0	1	2	245
MUT:HOXA1:Glu189Ala	PROT:P49639	HOXA1	E	189	A	E189A	Benign/Likely benign	0	1	2	107
MUT:HOXA1:His146Asn	PROT:P49639	HOXA1	H	146	N	H146N	Benign/Likely benign	0	1	2	150
MUT:HOXA1:His65Pro	PROT:P49639	HOXA1	H	65	P	H65P	Benign	0	1	2	231
MUT:HOXB13:Ala236Ser	PROT:Q92826	HOXB13	A	236	S	A236S	Likely benign	0	1	5	3
MUT:HOXB13:Ala49Ser	PROT:Q92826	HOXB13	A	49	S	A49S	Likely benign	0	2	5	8
MUT:HOXB13:Gly23Trp	PROT:Q92826	HOXB13	G	23	W	G23W	Likely benign	0	1	5	8
MUT:HOXB13:Met43Lys	PROT:Q92826	HOXB13	M	43	K	M43K	Likely benign	0	1	5	2
MUT:HOXB13:Pro99Thr	PROT:Q92826	HOXB13	P	99	T	P99T	Likely benign	0	1	5	58
MUT:HOXB13:Ser122Asn	PROT:Q92826	HOXB13	S	122	N	S122N	Likely benign	0	2	5	81
MUT:HOXD13:Arg306Gln	PROT:P35453	HOXD13	R	306	Q	R306Q	Pathogenic	1	1	2	7
MUT:HOXD13:Arg306Gly	PROT:P35453	HOXD13	R	306	G	R306G	Pathogenic	1	1	2	7
MUT:HOXD13:Arg306Trp	PROT:P35453	HOXD13	R	306	W	R306W	Pathogenic/Likely pathogenic	1	2	2	7
MUT:HOXD13:Asn181Asp	PROT:P35453	HOXD13	N	181	D	N181D	Likely benign	0	1	2	132
MUT:HOXD13:Gln325Arg	PROT:P35453	HOXD13	Q	325	R	Q325R	Pathogenic	1	1	2	9
MUT:HOXD13:Gln325Lys	PROT:P35453	HOXD13	Q	325	K	Q325K	Pathogenic	1	1	2	9
MUT:HOXD13:Gly228Ala	PROT:P35453	HOXD13	G	228	A	G228A	Pathogenic	1	1	2	85
MUT:HOXD13:Gly228Val	PROT:P35453	HOXD13	G	228	V	G228V	Pathogenic	1	1	2	85
MUT:HOXD13:Ile322Leu	PROT:P35453	HOXD13	I	322	L	I322L	Pathogenic	1	2	2	6
MUT:HOXD13:Tyr206Cys	PROT:P35453	HOXD13	Y	206	C	Y206C	Benign	0	1	2	107
MUT:HOXD9:Gly155Arg	PROT:P28356	HOXD9	G	155	R	G155R	Likely benign	0	1	2	5
MUT:HOXD9:Gly155Trp	PROT:P28356	HOXD9	G	155	W	G155W	Likely benign	0	1	2	5
MUT:HOXD9:Pro112Thr	PROT:P28356	HOXD9	P	112	T	P112T	Likely benign	0	1	2	34
MUT:HP:Lys72Glu	PROT:P00738	HP	K	72	E	K72E	Benign	0	1	4	6
MUT:HPCA:Ala190Thr	PROT:P84074	HPCA	A	190	T	A190T	Likely benign	0	1	5	1
MUT:HPCA:Asn75Lys	PROT:P84074	HPCA	N	75	K	N75K	Pathogenic	1	1	5	12
MUT:HPCA:Thr71Asn	PROT:P84074	HPCA	T	71	N	T71N	Pathogenic	1	1	5	8
MUT:HPDL:Ala231Gly	PROT:Q96IR7	HPDL	A	231	G	A231G	Likely pathogenic	1	1	1	31
MUT:HPDL:Ala78Thr	PROT:Q96IR7	HPDL	A	78	T	A78T	Likely pathogenic	1	2	1	184
MUT:HPDL:Arg37Pro	PROT:Q96IR7	HPDL	R	37	P	R37P	Likely pathogenic	1	1	1	225
MUT:HPDL:Cys168Tyr	PROT:Q96IR7	HPDL	C	168	Y	C168Y	Likely pathogenic	1	2	1	94
MUT:HPDL:Gly140Arg	PROT:Q96IR7	HPDL	G	140	R	G140R	Likely pathogenic	1	1	1	122
MUT:HPDL:Gly260Glu	PROT:Q96IR7	HPDL	G	260	E	G260E	Pathogenic	1	1	1	2
MUT:HPDL:Gly272Arg	PROT:Q96IR7	HPDL	G	272	R	G272R	Likely benign	0	1	1	10
MUT:HPDL:Gly285Glu	PROT:Q96IR7	HPDL	G	285	E	G285E	Likely benign	0	1	1	23
MUT:HPDL:Gly50Asp	PROT:Q96IR7	HPDL	G	50	D	G50D	Pathogenic	1	4	1	212
MUT:HPDL:Ile266Thr	PROT:Q96IR7	HPDL	I	266	T	I266T	Pathogenic/Likely pathogenic	1	2	1	4
MUT:HPDL:Leu176Pro	PROT:Q96IR7	HPDL	L	176	P	L176P	Pathogenic	1	1	1	86
MUT:HPDL:Leu217Pro	PROT:Q96IR7	HPDL	L	217	P	L217P	Likely pathogenic	1	1	1	45
MUT:HPDL:Leu338Pro	PROT:Q96IR7	HPDL	L	338	P	L338P	Likely pathogenic	1	2	1	76
MUT:HPDL:Leu34Val	PROT:Q96IR7	HPDL	L	34	V	L34V	Likely benign	0	1	1	228
MUT:HPDL:Lys320Asn	PROT:Q96IR7	HPDL	K	320	N	K320N	Likely benign	0	1	1	58
MUT:HPDL:Met1Ile	PROT:Q96IR7	HPDL	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	1	261
MUT:HPDL:Ser173Tyr	PROT:Q96IR7	HPDL	S	173	Y	S173Y	Likely pathogenic	1	1	1	89
MUT:HPDL:Thr165Pro	PROT:Q96IR7	HPDL	T	165	P	T165P	Likely pathogenic	1	1	1	97
MUT:HPDL:Thr263Arg	PROT:Q96IR7	HPDL	T	263	R	T263R	Likely pathogenic	1	1	1	1
MUT:HPDL:Thr263Met	PROT:Q96IR7	HPDL	T	263	M	T263M	Likely pathogenic	1	2	1	1
MUT:HPDL:Trp179Cys	PROT:Q96IR7	HPDL	W	179	C	W179C	Pathogenic	1	1	1	83
MUT:HPDL:Trp358Gly	PROT:Q96IR7	HPDL	W	358	G	W358G	Likely pathogenic	1	1	1	96
MUT:HPDL:Tyr287His	PROT:Q96IR7	HPDL	Y	287	H	Y287H	Pathogenic/Likely pathogenic	1	2	1	25
MUT:HPDL:Tyr288His	PROT:Q96IR7	HPDL	Y	288	H	Y288H	Likely pathogenic	1	1	1	26
MUT:HPDL:Val267Met	PROT:Q96IR7	HPDL	V	267	M	V267M	Likely benign	0	1	1	5
MUT:HPGD:Ala140Pro	PROT:P15428	HPGD	A	140	P	A140P	Pathogenic	1	2	4	48
MUT:HPGD:Asn227Ser	PROT:P15428	HPGD	N	227	S	N227S	Benign	0	3	4	32
MUT:HPGD:Asp212Asn	PROT:P15428	HPGD	D	212	N	D212N	Benign/Likely benign	0	2	4	24
MUT:HPGD:Gly12Ser	PROT:P15428	HPGD	G	12	S	G12S	Pathogenic	1	1	4	45
MUT:HPGD:Met1Leu	PROT:P15428	HPGD	M	1	L	M1L	Pathogenic	1	1	4	56
MUT:HPGD:Pro149Arg	PROT:P15428	HPGD	P	149	R	P149R	Likely pathogenic	1	1	4	39
MUT:HPGD:Ser193Pro	PROT:P15428	HPGD	S	193	P	S193P	Likely pathogenic	1	1	4	5
MUT:HPRT1:Ala161Ser	PROT:P00492	HPRT1	A	161	S	A161S	Likely pathogenic	1	2	20	2
MUT:HPRT1:Ala161Thr	PROT:P00492	HPRT1	A	161	T	A161T	Likely pathogenic	1	1	20	2
MUT:HPRT1:Ala50Pro	PROT:P00492	HPRT1	A	50	P	A50P	Likely pathogenic	1	1	20	23
MUT:HPRT1:Arg45Lys	PROT:P00492	HPRT1	R	45	K	R45K	Pathogenic	1	1	20	28
MUT:HPRT1:Arg48His	PROT:P00492	HPRT1	R	48	H	R48H	Pathogenic	1	3	20	25
MUT:HPRT1:Asp177Tyr	PROT:P00492	HPRT1	D	177	Y	D177Y	Pathogenic	1	1	20	2
MUT:HPRT1:Asp194Asn	PROT:P00492	HPRT1	D	194	N	D194N	Pathogenic	1	1	20	4
MUT:HPRT1:Asp194Tyr	PROT:P00492	HPRT1	D	194	Y	D194Y	Likely pathogenic	1	1	20	4
MUT:HPRT1:Asp80Gly	PROT:P00492	HPRT1	D	80	G	D80G	Likely pathogenic	1	1	20	1
MUT:HPRT1:Asp80Tyr	PROT:P00492	HPRT1	D	80	Y	D80Y	Likely pathogenic	1	1	20	1
MUT:HPRT1:Asp80Val	PROT:P00492	HPRT1	D	80	V	D80V	Likely pathogenic	1	2	20	1
MUT:HPRT1:Glu47Val	PROT:P00492	HPRT1	E	47	V	E47V	Likely pathogenic	1	1	20	26
MUT:HPRT1:Gly16Val	PROT:P00492	HPRT1	G	16	V	G16V	Pathogenic	1	1	20	5
MUT:HPRT1:Gly180Glu	PROT:P00492	HPRT1	G	180	E	G180E	Pathogenic	1	1	20	5
MUT:HPRT1:Gly70Glu	PROT:P00492	HPRT1	G	70	E	G70E	Pathogenic	1	2	20	3
MUT:HPRT1:Gly71Arg	PROT:P00492	HPRT1	G	71	R	G71R	Likely pathogenic	1	2	20	2
MUT:HPRT1:His204Asp	PROT:P00492	HPRT1	H	204	D	H204D	Likely pathogenic	1	1	20	6
MUT:HPRT1:Leu65Phe	PROT:P00492	HPRT1	L	65	F	L65F	Pathogenic	1	1	20	8
MUT:HPRT1:Leu78Pro	PROT:P00492	HPRT1	L	78	P	L78P	Pathogenic	1	1	20	3
MUT:HPRT1:Met143Lys	PROT:P00492	HPRT1	M	143	K	M143K	Pathogenic	1	1	20	1
MUT:HPRT1:Met1Val	PROT:P00492	HPRT1	M	1	V	M1V	Pathogenic	1	1	20	4
MUT:HPRT1:Phe74Cys	PROT:P00492	HPRT1	F	74	C	F74C	Pathogenic	1	1	20	1
MUT:HPRT1:Pro169Ala	PROT:P00492	HPRT1	P	169	A	P169A	Benign/Likely benign	0	1	20	3
MUT:HPRT1:Pro176Leu	PROT:P00492	HPRT1	P	176	L	P176L	Pathogenic	1	1	20	1
MUT:HPRT1:Ser110Leu	PROT:P00492	HPRT1	S	110	L	S110L	Likely pathogenic	1	2	20	0
MUT:HPRT1:Ser162Arg	PROT:P00492	HPRT1	S	162	R	S162R	Likely pathogenic	1	1	20	3
MUT:HPRT1:Thr139Asn	PROT:P00492	HPRT1	T	139	N	T139N	Likely pathogenic	1	1	20	0
MUT:HPRT1:Thr168Ile	PROT:P00492	HPRT1	T	168	I	T168I	Pathogenic	1	1	20	2
MUT:HPRT1:Val130Asp	PROT:P00492	HPRT1	V	130	D	V130D	Pathogenic	1	2	20	2
MUT:HPS3:Arg397Trp	PROT:Q969F9	HPS3	R	397	W	R397W	Pathogenic/Likely pathogenic	1	2	23	65
MUT:HPS3:Arg898Cys	PROT:Q969F9	HPS3	R	898	C	R898C	Likely benign	0	2	23	4
MUT:HPS3:Asn623Ser	PROT:Q969F9	HPS3	N	623	S	N623S	Likely benign	0	1	23	22
MUT:HPS3:Gln53Arg	PROT:Q969F9	HPS3	Q	53	R	Q53R	Benign	0	2	23	34
MUT:HPS3:Glu275Lys	PROT:Q969F9	HPS3	E	275	K	E275K	Benign/Likely benign	0	2	23	19
MUT:HPS3:Gly324Ser	PROT:Q969F9	HPS3	G	324	S	G324S	Likely benign	0	1	23	7
MUT:HPS3:Gly739Arg	PROT:Q969F9	HPS3	G	739	R	G739R	Benign	0	2	23	11
MUT:HPS3:Ile456Val	PROT:Q969F9	HPS3	I	456	V	I456V	Benign	0	3	23	6
MUT:HPS3:Met410Val	PROT:Q969F9	HPS3	M	410	V	M410V	Likely benign	0	2	23	52
MUT:HPS3:Met503Ile	PROT:Q969F9	HPS3	M	503	I	M503I	Likely pathogenic	1	2	23	8
MUT:HPS3:Tyr91Ser	PROT:Q969F9	HPS3	Y	91	S	Y91S	Likely pathogenic	1	1	23	72
MUT:HPS3:Val843Ile	PROT:Q969F9	HPS3	V	843	I	V843I	Benign	0	2	23	59
MUT:HPS5:Ala728Thr	PROT:Q9UPZ3	HPS5	A	728	T	A728T	Likely benign	0	1	37	3
MUT:HPS5:Arg1077Trp	PROT:Q9UPZ3	HPS5	R	1077	W	R1077W	Benign/Likely benign	0	1	37	3
MUT:HPS5:Arg240Pro	PROT:Q9UPZ3	HPS5	R	240	P	R240P	Likely pathogenic	1	1	37	16
MUT:HPS5:Arg337Lys	PROT:Q9UPZ3	HPS5	R	337	K	R337K	Likely benign	0	1	37	60
MUT:HPS5:Asn346Ser	PROT:Q9UPZ3	HPS5	N	346	S	N346S	Likely benign	0	1	37	51
MUT:HPS5:Gln320Glu	PROT:Q9UPZ3	HPS5	Q	320	E	Q320E	Benign	0	1	37	58
MUT:HPS5:Gly501Arg	PROT:Q9UPZ3	HPS5	G	501	R	G501R	Benign/Likely benign	0	2	37	31
MUT:HPS5:Leu417Met	PROT:Q9UPZ3	HPS5	L	417	M	L417M	Benign	0	1	37	12
MUT:HPS5:Leu740Ser	PROT:Q9UPZ3	HPS5	L	740	S	L740S	Pathogenic	1	1	37	15
MUT:HPS5:Met1015Ile	PROT:Q9UPZ3	HPS5	M	1015	I	M1015I	Likely benign	0	1	37	37
MUT:HPS5:Met1073Val	PROT:Q9UPZ3	HPS5	M	1073	V	M1073V	Benign/Likely benign	0	1	37	7
MUT:HPS5:Met115Ile	PROT:Q9UPZ3	HPS5	M	115	I	M115I	Likely benign	0	2	37	36
MUT:HPS5:Pro846Leu	PROT:Q9UPZ3	HPS5	P	846	L	P846L	Benign/Likely benign	0	1	37	11
MUT:HPS5:Thr1098Ile	PROT:Q9UPZ3	HPS5	T	1098	I	T1098I	Benign/Likely benign	0	1	37	18
MUT:HPS5:Val702Ile	PROT:Q9UPZ3	HPS5	V	702	I	V702I	Likely benign	0	1	37	1
MUT:HPSE:Asp476Glu	PROT:Q9Y251	HPSE	D	476	E	D476E	Likely benign	0	1	4	31
MUT:HPSE:Lys161Gln	PROT:Q9Y251	HPSE	K	161	Q	K161Q	Benign	0	1	4	62
MUT:HPSE:Lys307Arg	PROT:Q9Y251	HPSE	K	307	R	K307R	Benign	0	1	4	45
MUT:HPSE:Phe236Cys	PROT:Q9Y251	HPSE	F	236	C	F236C	Likely benign	0	1	4	26
MUT:HR:Ala1079Thr	PROT:O43593	HR	A	1079	T	A1079T	Likely benign	0	1	6	267
MUT:HR:Ala352Val	PROT:O43593	HR	A	352	V	A352V	Benign	0	2	6	36
MUT:HR:Ala503Thr	PROT:O43593	HR	A	503	T	A503T	Benign	0	3	6	78
MUT:HR:Ala576Val	PROT:O43593	HR	A	576	V	A576V	Benign/Likely benign	0	2	6	55
MUT:HR:Ala645Thr	PROT:O43593	HR	A	645	T	A645T	Likely benign	0	1	6	14
MUT:HR:Arg118Cys	PROT:O43593	HR	R	118	C	R118C	Benign/Likely benign	0	1	6	88
MUT:HR:Arg324Gly	PROT:O43593	HR	R	324	G	R324G	Likely benign	0	1	6	8
MUT:HR:Arg33Gln	PROT:O43593	HR	R	33	Q	R33Q	Likely benign	0	1	6	3
MUT:HR:Arg620Gln	PROT:O43593	HR	R	620	Q	R620Q	Benign/Likely benign	0	2	6	11
MUT:HR:Arg620Gly	PROT:O43593	HR	R	620	G	R620G	Benign	0	2	6	11
MUT:HR:Arg747His	PROT:O43593	HR	R	747	H	R747H	Benign	0	1	6	65
MUT:HR:Arg856Gln	PROT:O43593	HR	R	856	Q	R856Q	Likely benign	0	1	6	44
MUT:HR:Arg857His	PROT:O43593	HR	R	857	H	R857H	Benign	0	2	6	45
MUT:HR:Asp1012Asn	PROT:O43593	HR	D	1012	N	D1012N	Pathogenic	1	1	6	200
MUT:HR:Cys397Tyr	PROT:O43593	HR	C	397	Y	C397Y	Benign	0	3	6	19
MUT:HR:Gln528Arg	PROT:O43593	HR	Q	528	R	Q528R	Benign	0	2	6	103
MUT:HR:Glu101Lys	PROT:O43593	HR	E	101	K	E101K	Likely benign	0	2	6	71
MUT:HR:Glu506Gly	PROT:O43593	HR	E	506	G	E506G	Benign/Likely benign	0	2	6	81
MUT:HR:Glu636Gly	PROT:O43593	HR	E	636	G	E636G	Benign	0	2	6	5
MUT:HR:Gly337Asp	PROT:O43593	HR	G	337	D	G337D	Benign	0	2	6	21
MUT:HR:Gly444Arg	PROT:O43593	HR	G	444	R	G444R	Likely benign	0	1	6	19
MUT:HR:Gly702Trp	PROT:O43593	HR	G	702	W	G702W	Benign	0	2	6	71
MUT:HR:Gly823Ser	PROT:O43593	HR	G	823	S	G823S	Benign	0	2	6	11
MUT:HR:Leu526Pro	PROT:O43593	HR	L	526	P	L526P	Benign	0	2	6	101
MUT:HR:Pro1085Ala	PROT:O43593	HR	P	1085	A	P1085A	Benign	0	2	6	273
MUT:HR:Pro1157Arg	PROT:O43593	HR	P	1157	R	P1157R	Benign/Likely benign	0	2	6	345
MUT:HR:Pro319Leu	PROT:O43593	HR	P	319	L	P319L	Benign	0	2	6	3
MUT:HR:Pro40Leu	PROT:O43593	HR	P	40	L	P40L	Benign	0	1	6	10
MUT:HR:Pro63Arg	PROT:O43593	HR	P	63	R	P63R	Benign	0	2	6	33
MUT:HR:Pro69Ser	PROT:O43593	HR	P	69	S	P69S	Benign/Likely benign	0	2	6	39
MUT:HR:Ser366Pro	PROT:O43593	HR	S	366	P	S366P	Likely benign	0	1	6	50
MUT:HR:Ser911Arg	PROT:O43593	HR	S	911	R	S911R	Benign	0	2	6	99
MUT:HR:Thr1022Ala	PROT:O43593	HR	T	1022	A	T1022A	Benign	0	3	6	210
MUT:HR:Thr13Ala	PROT:O43593	HR	T	13	A	T13A	Benign/Likely benign	0	2	6	17
MUT:HR:Val1136Asp	PROT:O43593	HR	V	1136	D	V1136D	Pathogenic	1	1	6	324
MUT:HR:Val419Ile	PROT:O43593	HR	V	419	I	V419I	Likely benign	0	1	6	3
MUT:HRAS:Ala146Thr	PROT:P01112	HRAS	A	146	T	A146T	Pathogenic	1	1	20	1
MUT:HRAS:Ala146Val	PROT:P01112	HRAS	A	146	V	A146V	Likely pathogenic	1	1	20	1
MUT:HRAS:Ala59Gly	PROT:P01112	HRAS	A	59	G	A59G	Pathogenic	1	2	20	5
MUT:HRAS:Ala59Leu	PROT:P01112	HRAS	A	59	L	A59L	Likely pathogenic	1	1	20	5
MUT:HRAS:Ala59Thr	PROT:P01112	HRAS	A	59	T	A59T	Likely pathogenic	1	3	20	5
MUT:HRAS:Arg153Cys	PROT:P01112	HRAS	R	153	C	R153C	Likely benign	0	1	20	4
MUT:HRAS:Asn86Thr	PROT:P01112	HRAS	N	86	T	N86T	Benign	0	6	20	10
MUT:HRAS:Asp154Tyr	PROT:P01112	HRAS	D	154	Y	D154Y	Likely benign	0	1	20	3
MUT:HRAS:Gln22Lys	PROT:P01112	HRAS	Q	22	K	Q22K	Likely pathogenic	1	3	20	10
MUT:HRAS:Gln61Arg	PROT:P01112	HRAS	Q	61	R	Q61R	Likely pathogenic	1	6	20	3
MUT:HRAS:Gln61His	PROT:P01112	HRAS	Q	61	H	Q61H	Likely pathogenic	1	1	20	3
MUT:HRAS:Gln61Lys	PROT:P01112	HRAS	Q	61	K	Q61K	Pathogenic/Likely pathogenic	1	8	20	3
MUT:HRAS:Gln95Arg	PROT:P01112	HRAS	Q	95	R	Q95R	Likely benign	0	1	20	1
MUT:HRAS:Glu63Lys	PROT:P01112	HRAS	E	63	K	E63K	Pathogenic	1	2	20	1
MUT:HRAS:Gly12Ala	PROT:P01112	HRAS	G	12	A	G12A	Pathogenic	1	3	20	10
MUT:HRAS:Gly12Arg	PROT:P01112	HRAS	G	12	R	G12R	Likely pathogenic	1	1	20	10
MUT:HRAS:Gly12Asp	PROT:P01112	HRAS	G	12	D	G12D	Pathogenic/Likely pathogenic	1	8	20	10
MUT:HRAS:Gly12Cys	PROT:P01112	HRAS	G	12	C	G12C	Pathogenic	1	5	20	10
MUT:HRAS:Gly12Glu	PROT:P01112	HRAS	G	12	E	G12E	Pathogenic/Likely pathogenic	1	1	20	10
MUT:HRAS:Gly12Ser	PROT:P01112	HRAS	G	12	S	G12S	Pathogenic	1	14	20	10
MUT:HRAS:Gly12Val	PROT:P01112	HRAS	G	12	V	G12V	Pathogenic	1	5	20	10
MUT:HRAS:Gly13Arg	PROT:P01112	HRAS	G	13	R	G13R	Pathogenic/Likely pathogenic	1	15	20	11
MUT:HRAS:Gly13Asp	PROT:P01112	HRAS	G	13	D	G13D	Pathogenic	1	8	20	11
MUT:HRAS:Gly13Cys	PROT:P01112	HRAS	G	13	C	G13C	Pathogenic	1	7	20	11
MUT:HRAS:Gly13Ser	PROT:P01112	HRAS	G	13	S	G13S	Likely pathogenic	1	2	20	11
MUT:HRAS:Gly13Val	PROT:P01112	HRAS	G	13	V	G13V	Pathogenic/Likely pathogenic	1	7	20	11
MUT:HRAS:Gly60Asp	PROT:P01112	HRAS	G	60	D	G60D	Pathogenic	1	1	20	4
MUT:HRAS:Gly60Ser	PROT:P01112	HRAS	G	60	S	G60S	Likely pathogenic	1	1	20	4
MUT:HRAS:Gly60Val	PROT:P01112	HRAS	G	60	V	G60V	Pathogenic	1	1	20	4
MUT:HRAS:His166Gln	PROT:P01112	HRAS	H	166	Q	H166Q	Likely benign	0	1	20	4
MUT:HRAS:Leu23Arg	PROT:P01112	HRAS	L	23	R	L23R	Likely pathogenic	1	1	20	9
MUT:HRAS:Lys117Arg	PROT:P01112	HRAS	K	117	R	K117R	Pathogenic	1	2	20	0
MUT:HRAS:Phe156Leu	PROT:P01112	HRAS	F	156	L	F156L	Pathogenic	1	1	20	1
MUT:HRAS:Pro173Arg	PROT:P01112	HRAS	P	173	R	P173R	Likely benign	0	1	20	3
MUT:HRAS:Pro174Ser	PROT:P01112	HRAS	P	174	S	P174S	Benign	0	4	20	4
MUT:HRAS:Pro179Ala	PROT:P01112	HRAS	P	179	A	P179A	Likely benign	0	1	20	4
MUT:HRAS:Thr58Ile	PROT:P01112	HRAS	T	58	I	T58I	Pathogenic	1	3	20	6
MUT:HSD11B2:Ala221Val	PROT:P80365	HSD11B2	A	221	V	A221V	Likely pathogenic	1	1	3	57
MUT:HSD11B2:Ala328Val	PROT:P80365	HSD11B2	A	328	V	A328V	Likely pathogenic	1	1	3	48
MUT:HSD11B2:Arg208Cys	PROT:P80365	HSD11B2	R	208	C	R208C	Pathogenic	1	1	3	70
MUT:HSD11B2:Arg208His	PROT:P80365	HSD11B2	R	208	H	R208H	Pathogenic/Likely pathogenic	1	1	3	70
MUT:HSD11B2:Arg213Cys	PROT:P80365	HSD11B2	R	213	C	R213C	Pathogenic	1	1	3	65
MUT:HSD11B2:Arg279Cys	PROT:P80365	HSD11B2	R	279	C	R279C	Pathogenic	1	1	3	1
MUT:HSD11B2:Arg337Cys	PROT:P80365	HSD11B2	R	337	C	R337C	Pathogenic	1	1	3	57
MUT:HSD11B2:Arg374Gln	PROT:P80365	HSD11B2	R	374	Q	R374Q	Benign	0	3	3	94
MUT:HSD11B2:Pro227Leu	PROT:P80365	HSD11B2	P	227	L	P227L	Pathogenic	1	1	3	51
MUT:HSD11B2:Pro55Leu	PROT:P80365	HSD11B2	P	55	L	P55L	Likely benign	0	1	3	63
MUT:HSD11B2:Ser396Asn	PROT:P80365	HSD11B2	S	396	N	S396N	Likely benign	0	1	3	116
MUT:HSD11B2:Thr383Ala	PROT:P80365	HSD11B2	T	383	A	T383A	Likely benign	0	1	3	103
MUT:HSD11B2:Tyr338His	PROT:P80365	HSD11B2	Y	338	H	Y338H	Pathogenic	1	1	3	58
MUT:HSD11B2:Val239Met	PROT:P80365	HSD11B2	V	239	M	V239M	Likely benign	0	1	3	39
MUT:HSD11B2:Val255Ile	PROT:P80365	HSD11B2	V	255	I	V255I	Likely benign	0	1	3	23
MUT:HSD11B2:Val273Met	PROT:P80365	HSD11B2	V	273	M	V273M	Benign/Likely benign	0	1	3	5
MUT:HSD17B10:Ala78Val	PROT:Q99714	HSD17B10	A	78	V	A78V	Likely benign	0	1	13	1
MUT:HSD17B10:Ala95Thr	PROT:Q99714	HSD17B10	A	95	T	A95T	Benign	0	1	13	4
MUT:HSD17B10:Arg130Cys	PROT:Q99714	HSD17B10	R	130	C	R130C	Pathogenic	1	1	13	23
MUT:HSD17B10:Arg184Gln	PROT:Q99714	HSD17B10	R	184	Q	R184Q	Pathogenic	1	1	13	5
MUT:HSD17B10:Arg184Trp	PROT:Q99714	HSD17B10	R	184	W	R184W	Pathogenic	1	1	13	5
MUT:HSD17B10:Arg226Gln	PROT:Q99714	HSD17B10	R	226	Q	R226Q	Pathogenic/Likely pathogenic	1	1	13	18
MUT:HSD17B10:Arg29Gly	PROT:Q99714	HSD17B10	R	29	G	R29G	Likely pathogenic	1	1	13	7
MUT:HSD17B10:Asn127Ser	PROT:Q99714	HSD17B10	N	127	S	N127S	Likely pathogenic	1	1	13	22
MUT:HSD17B10:Asn247Ser	PROT:Q99714	HSD17B10	N	247	S	N247S	Pathogenic	1	1	13	39
MUT:HSD17B10:Asp86Gly	PROT:Q99714	HSD17B10	D	86	G	D86G	Pathogenic	1	1	13	7
MUT:HSD17B10:Gly173Arg	PROT:Q99714	HSD17B10	G	173	R	G173R	Likely pathogenic	1	1	13	6
MUT:HSD17B10:Gly55Glu	PROT:Q99714	HSD17B10	G	55	E	G55E	Likely pathogenic	1	1	13	14
MUT:HSD17B10:Ile251Met	PROT:Q99714	HSD17B10	I	251	M	I251M	Likely pathogenic	1	1	13	43
MUT:HSD17B10:Leu236Phe	PROT:Q99714	HSD17B10	L	236	F	L236F	Likely pathogenic	1	1	13	28
MUT:HSD17B10:Lys212Glu	PROT:Q99714	HSD17B10	K	212	E	K212E	Pathogenic/Likely pathogenic	1	1	13	4
MUT:HSD17B10:Met123Leu	PROT:Q99714	HSD17B10	M	123	L	M123L	Likely benign	0	1	13	18
MUT:HSD17B10:Pro198Thr	PROT:Q99714	HSD17B10	P	198	T	P198T	Likely pathogenic	1	1	13	9
MUT:HSD17B10:Ser20Leu	PROT:Q99714	HSD17B10	S	20	L	S20L	Likely pathogenic	1	1	13	11
MUT:HSF4:Ala19Asp	PROT:Q9ULV5	HSF4	A	19	D	A19D	Pathogenic	1	1	2	279
MUT:HSF4:Arg116His	PROT:Q9ULV5	HSF4	R	116	H	R116H	Benign	0	2	2	182
MUT:HSF4:Arg118Trp	PROT:Q9ULV5	HSF4	R	118	W	R118W	Likely pathogenic	1	1	2	180
MUT:HSF4:Arg119Cys	PROT:Q9ULV5	HSF4	R	119	C	R119C	Pathogenic	1	1	2	179
MUT:HSF4:Arg175Gly	PROT:Q9ULV5	HSF4	R	175	G	R175G	Likely benign	0	1	2	123
MUT:HSF4:Arg426Pro	PROT:Q9ULV5	HSF4	R	426	P	R426P	Likely benign	0	1	2	65
MUT:HSF4:Gln456Pro	PROT:Q9ULV5	HSF4	Q	456	P	Q456P	Likely benign	0	1	2	35
MUT:HSF4:Ile472Val	PROT:Q9ULV5	HSF4	I	472	V	I472V	Benign	0	2	2	19
MUT:HSF4:Ile86Val	PROT:Q9ULV5	HSF4	I	86	V	I86V	Pathogenic	1	1	2	212
MUT:HSF4:Leu114Pro	PROT:Q9ULV5	HSF4	L	114	P	L114P	Pathogenic	1	1	2	184
MUT:HSF4:Leu309Val	PROT:Q9ULV5	HSF4	L	309	V	L309V	Likely benign	0	1	2	11
MUT:HSF4:Lys23Asn	PROT:Q9ULV5	HSF4	K	23	N	K23N	Pathogenic	1	1	2	275
MUT:HSF4:Lys64Glu	PROT:Q9ULV5	HSF4	K	64	E	K64E	Likely pathogenic	1	1	2	234
MUT:HSF4:Met212Ile	PROT:Q9ULV5	HSF4	M	212	I	M212I	Benign/Likely benign	0	2	2	86
MUT:HSF4:Pro429Thr	PROT:Q9ULV5	HSF4	P	429	T	P429T	Likely benign	0	1	2	62
MUT:HSF4:Pro445Ser	PROT:Q9ULV5	HSF4	P	445	S	P445S	Likely benign	0	1	2	46
MUT:HSF4:Pro492His	PROT:Q9ULV5	HSF4	P	492	H	P492H	Benign	0	1	2	1
MUT:HSPA1L:Ala268Thr	PROT:P34931	HSPA1L	A	268	T	A268T	Benign	0	2	39	1
MUT:HSPA1L:Ala8Pro	PROT:P34931	HSPA1L	A	8	P	A8P	Benign	0	1	39	19
MUT:HSPA1L:Glu558Ala	PROT:P34931	HSPA1L	E	558	A	E558A	Benign	0	2	39	17
MUT:HSPA1L:Glu602Lys	PROT:P34931	HSPA1L	E	602	K	E602K	Benign	0	1	39	61
MUT:HSPA1L:Thr479Met	PROT:P34931	HSPA1L	T	479	M	T479M	Benign	0	1	39	15
MUT:HSPA1L:Thr493Met	PROT:P34931	HSPA1L	T	493	M	T493M	Benign	0	1	39	11
MUT:HSPA9:Arg126Trp	PROT:P38646	HSPA9	R	126	W	R126W	Pathogenic	1	1	37	2
MUT:HSPA9:Tyr128Cys	PROT:P38646	HSPA9	Y	128	C	Y128C	Pathogenic	1	1	37	0
MUT:HSPB1:Arg127Leu	PROT:P04792	HSPB1	R	127	L	R127L	Pathogenic/Likely pathogenic	1	2	37	4
MUT:HSPB1:Arg127Trp	PROT:P04792	HSPB1	R	127	W	R127W	Pathogenic	1	2	37	4
MUT:HSPB1:Arg136Gln	PROT:P04792	HSPB1	R	136	Q	R136Q	Pathogenic/Likely pathogenic	1	1	37	1
MUT:HSPB1:Arg136Leu	PROT:P04792	HSPB1	R	136	L	R136L	Pathogenic/Likely pathogenic	1	3	37	1
MUT:HSPB1:Arg136Trp	PROT:P04792	HSPB1	R	136	W	R136W	Pathogenic	1	1	37	1
MUT:HSPB1:Arg140Gly	PROT:P04792	HSPB1	R	140	G	R140G	Pathogenic	1	4	37	1
MUT:HSPB1:Arg188Gln	PROT:P04792	HSPB1	R	188	Q	R188Q	Likely benign	0	1	37	1
MUT:HSPB1:Arg37Pro	PROT:P04792	HSPB1	R	37	P	R37P	Likely benign	0	1	37	11
MUT:HSPB1:Gly84Arg	PROT:P04792	HSPB1	G	84	R	G84R	Pathogenic/Likely pathogenic	1	6	37	1
MUT:HSPB1:Leu99Met	PROT:P04792	HSPB1	L	99	M	L99M	Pathogenic	1	1	37	1
MUT:HSPB1:Pro182Ala	PROT:P04792	HSPB1	P	182	A	P182A	Pathogenic	1	1	37	2
MUT:HSPB1:Pro182Leu	PROT:P04792	HSPB1	P	182	L	P182L	Pathogenic	1	2	37	2
MUT:HSPB1:Pro182Ser	PROT:P04792	HSPB1	P	182	S	P182S	Pathogenic/Likely pathogenic	1	2	37	2
MUT:HSPB1:Pro39Arg	PROT:P04792	HSPB1	P	39	R	P39R	Likely pathogenic	1	1	37	13
MUT:HSPB1:Pro39Leu	PROT:P04792	HSPB1	P	39	L	P39L	Pathogenic	1	5	37	13
MUT:HSPB1:Pro60Ser	PROT:P04792	HSPB1	P	60	S	P60S	Benign/Likely benign	0	3	37	5
MUT:HSPB1:Ser135Ala	PROT:P04792	HSPB1	S	135	A	S135A	Likely pathogenic	1	1	37	0
MUT:HSPB1:Ser135Cys	PROT:P04792	HSPB1	S	135	C	S135C	Pathogenic/Likely pathogenic	1	3	37	0
MUT:HSPB1:Ser135Phe	PROT:P04792	HSPB1	S	135	F	S135F	Pathogenic	1	3	37	0
MUT:HSPB1:Ser135Tyr	PROT:P04792	HSPB1	S	135	Y	S135Y	Pathogenic	1	2	37	0
MUT:HSPB1:Thr139Met	PROT:P04792	HSPB1	T	139	M	T139M	Pathogenic/Likely pathogenic	1	1	37	0
MUT:HSPB1:Thr151Ile	PROT:P04792	HSPB1	T	151	I	T151I	Pathogenic/Likely pathogenic	1	3	37	8
MUT:HSPB1:Thr180Ile	PROT:P04792	HSPB1	T	180	I	T180I	Pathogenic/Likely pathogenic	1	2	37	0
MUT:HSPB7:Thr148Ala	PROT:Q9UBY9	HSPB7	T	148	A	T148A	Likely benign	0	1	1	134
MUT:HSPB8:Arg78Met	PROT:Q9UJY1	HSPB8	R	78	M	R78M	Benign/Likely benign	0	2	12	9
MUT:HSPB8:Asn138Thr	PROT:Q9UJY1	HSPB8	N	138	T	N138T	Likely pathogenic	1	1	12	1
MUT:HSPB8:Glu167Lys	PROT:Q9UJY1	HSPB8	E	167	K	E167K	Benign/Likely benign	0	2	12	27
MUT:HSPB8:Glu179Gln	PROT:Q9UJY1	HSPB8	E	179	Q	E179Q	Benign	0	2	12	39
MUT:HSPB8:Glu185Lys	PROT:Q9UJY1	HSPB8	E	185	K	E185K	Likely benign	0	1	12	45
MUT:HSPB8:Lys141Asn	PROT:Q9UJY1	HSPB8	K	141	N	K141N	Pathogenic	1	3	12	1
MUT:HSPB8:Lys141Glu	PROT:Q9UJY1	HSPB8	K	141	E	K141E	Pathogenic	1	2	12	1
MUT:HSPB8:Lys141Met	PROT:Q9UJY1	HSPB8	K	141	M	K141M	Pathogenic	1	1	12	1
MUT:HSPB8:Lys141Thr	PROT:Q9UJY1	HSPB8	K	141	T	K141T	Likely pathogenic	1	2	12	1
MUT:HSPB8:Pro89Arg	PROT:Q9UJY1	HSPB8	P	89	R	P89R	Benign/Likely benign	0	2	12	2
MUT:HSPH1:Leu435Val	PROT:Q92598	HSPH1	L	435	V	L435V	Benign	0	1	50	2
MUT:HTR2C:Ala171Val	PROT:P28335	HTR2C	A	171	V	A171V	Likely benign	0	1	2	285
MUT:HTR2C:Ala7Val	PROT:P28335	HTR2C	A	7	V	A7V	Likely benign	0	1	2	449
MUT:HTR2C:Asp42His	PROT:P28335	HTR2C	D	42	H	D42H	Likely benign	0	1	2	414
MUT:HTR2C:Ser260Gly	PROT:P28335	HTR2C	S	260	G	S260G	Likely benign	0	1	2	196
MUT:HTR2C:Thr419Ala	PROT:P28335	HTR2C	T	419	A	T419A	Likely benign	0	1	2	37
MUT:HTR3A:Arg409Gln	PROT:P46098	HTR3A	R	409	Q	R409Q	Benign	0	1	2	28
MUT:HYAL2:Ala64Thr	PROT:Q12891	HYAL2	A	64	T	A64T	Pathogenic/Likely pathogenic	1	2	1	84
MUT:HYAL2:Arg153Gln	PROT:Q12891	HYAL2	R	153	Q	R153Q	Likely benign	0	1	1	5
MUT:HYAL2:Arg349Gln	PROT:Q12891	HYAL2	R	349	Q	R349Q	Likely benign	0	1	1	201
MUT:HYAL2:Arg367Trp	PROT:Q12891	HYAL2	R	367	W	R367W	Likely benign	0	1	1	219
MUT:HYAL2:Arg378Cys	PROT:Q12891	HYAL2	R	378	C	R378C	Likely pathogenic	1	2	1	230
MUT:HYAL2:Gly204Ala	PROT:Q12891	HYAL2	G	204	A	G204A	Likely pathogenic	1	1	1	56
MUT:HYAL2:Ile171Val	PROT:Q12891	HYAL2	I	171	V	I171V	Likely benign	0	1	1	23
MUT:HYAL2:Leu238Arg	PROT:Q12891	HYAL2	L	238	R	L238R	Pathogenic/Likely pathogenic	1	2	1	90
MUT:HYAL2:Lys148Arg	PROT:Q12891	HYAL2	K	148	R	K148R	Likely pathogenic	1	2	1	0
MUT:HYAL2:Phe425Val	PROT:Q12891	HYAL2	F	425	V	F425V	Pathogenic	1	1	1	277
MUT:HYAL2:Pro250Leu	PROT:Q12891	HYAL2	P	250	L	P250L	Pathogenic/Likely pathogenic	1	2	1	102
MUT:HYAL2:Ser261Phe	PROT:Q12891	HYAL2	S	261	F	S261F	Likely pathogenic	1	1	1	113
MUT:HYDIN:Ala1001Thr	PROT:Q4G0P3	HYDIN	A	1001	T	A1001T	Likely benign	0	1	5	507
MUT:HYDIN:Arg1952Gln	PROT:Q4G0P3	HYDIN	R	1952	Q	R1952Q	Likely benign	0	1	5	393
MUT:HYDIN:Arg2954Lys	PROT:Q4G0P3	HYDIN	R	2954	K	R2954K	Likely benign	0	1	5	584
MUT:HYDIN:Arg557Thr	PROT:Q4G0P3	HYDIN	R	557	T	R557T	Likely pathogenic	1	1	5	411
MUT:HYDIN:Asn315Ser	PROT:Q4G0P3	HYDIN	N	315	S	N315S	Likely benign	0	1	5	169
MUT:HYDIN:Asp269Asn	PROT:Q4G0P3	HYDIN	D	269	N	D269N	Likely benign	0	1	5	123
MUT:HYDIN:Asp726Gly	PROT:Q4G0P3	HYDIN	D	726	G	D726G	Likely benign	0	2	5	580
MUT:HYDIN:Gln340Glu	PROT:Q4G0P3	HYDIN	Q	340	E	Q340E	Likely benign	0	1	5	194
MUT:HYDIN:Glu2306Gly	PROT:Q4G0P3	HYDIN	E	2306	G	E2306G	Benign	0	1	5	39
MUT:HYDIN:Ile1097Met	PROT:Q4G0P3	HYDIN	I	1097	M	I1097M	Likely benign	0	3	5	411
MUT:HYDIN:Ile642Val	PROT:Q4G0P3	HYDIN	I	642	V	I642V	Likely benign	0	1	5	496
MUT:HYDIN:Ile762Val	PROT:Q4G0P3	HYDIN	I	762	V	I762V	Likely benign	0	1	5	616
MUT:HYDIN:Ile784Val	PROT:Q4G0P3	HYDIN	I	784	V	I784V	Likely benign	0	1	5	638
MUT:HYDIN:Met3879Thr	PROT:Q4G0P3	HYDIN	M	3879	T	M3879T	Likely benign	0	1	5	341
MUT:HYDIN:Met497Val	PROT:Q4G0P3	HYDIN	M	497	V	M497V	Likely benign	0	1	5	351
MUT:HYDIN:Met5049Thr	PROT:Q4G0P3	HYDIN	M	5049	T	M5049T	Likely benign	0	1	5	1511
MUT:HYDIN:Phe3765Leu	PROT:Q4G0P3	HYDIN	F	3765	L	F3765L	Likely benign	0	1	5	227
MUT:HYDIN:Pro1492His	PROT:Q4G0P3	HYDIN	P	1492	H	P1492H	Benign	0	1	5	16
MUT:HYDIN:Pro2455Gln	PROT:Q4G0P3	HYDIN	P	2455	Q	P2455Q	Benign	0	1	5	110
MUT:HYDIN:Ser3277Pro	PROT:Q4G0P3	HYDIN	S	3277	P	S3277P	Likely benign	0	1	5	261
MUT:HYDIN:Thr628Asn	PROT:Q4G0P3	HYDIN	T	628	N	T628N	Likely benign	0	1	5	482
MUT:HYDIN:Thr751Ser	PROT:Q4G0P3	HYDIN	T	751	S	T751S	Likely benign	0	1	5	605
MUT:HYDIN:Thr863Ser	PROT:Q4G0P3	HYDIN	T	863	S	T863S	Likely benign	0	1	5	645
MUT:HYDIN:Val1329Leu	PROT:Q4G0P3	HYDIN	V	1329	L	V1329L	Pathogenic	1	1	5	179
MUT:HYDIN:Val1454Ala	PROT:Q4G0P3	HYDIN	V	1454	A	V1454A	Likely benign	0	1	5	54
MUT:HYDIN:Val403Ile	PROT:Q4G0P3	HYDIN	V	403	I	V403I	Likely benign	0	1	5	257
MUT:HYDIN:Val807Ile	PROT:Q4G0P3	HYDIN	V	807	I	V807I	Likely benign	0	1	5	661
MUT:HYLS1:Cys31Arg	PROT:Q96M11	HYLS1	C	31	R	C31R	Benign	0	3	2	116
MUT:HYLS1:His29Pro	PROT:Q96M11	HYLS1	H	29	P	H29P	Benign/Likely benign	0	1	2	118
MUT:HYLS1:Lys91Asn	PROT:Q96M11	HYLS1	K	91	N	K91N	Benign	0	1	2	56
MUT:HYOU1:Ala419Pro	PROT:Q9Y4L1	HYOU1	A	419	P	A419P	Pathogenic	1	1	18	2
MUT:HYOU1:Glu371Gln	PROT:Q9Y4L1	HYOU1	E	371	Q	E371Q	Likely benign	0	1	18	31
MUT:HYOU1:Pro444His	PROT:Q9Y4L1	HYOU1	P	444	H	P444H	Pathogenic	1	1	18	19
MUT:HYOU1:Tyr231His	PROT:Q9Y4L1	HYOU1	Y	231	H	Y231H	Pathogenic	1	1	18	38
MUT:HYOU1:Val559Ile	PROT:Q9Y4L1	HYOU1	V	559	I	V559I	Benign	0	1	18	22
MUT:HYOU1:Val677Ile	PROT:Q9Y4L1	HYOU1	V	677	I	V677I	Benign	0	1	18	76
MUT:IARS2:Ala14Val	PROT:Q9NSE4	IARS2	A	14	V	A14V	Benign	0	1	20	119
MUT:IARS2:Arg817His	PROT:Q9NSE4	IARS2	R	817	H	R817H	Pathogenic/Likely pathogenic	1	1	20	2
MUT:IARS2:Gly874Arg	PROT:Q9NSE4	IARS2	G	874	R	G874R	Likely pathogenic	1	1	20	2
MUT:IARS2:His51Gln	PROT:Q9NSE4	IARS2	H	51	Q	H51Q	Likely benign	0	1	20	82
MUT:IARS2:His674Asp	PROT:Q9NSE4	IARS2	H	674	D	H674D	Likely benign	0	1	20	13
MUT:IARS2:His761Arg	PROT:Q9NSE4	IARS2	H	761	R	H761R	Pathogenic	1	1	20	14
MUT:IARS2:Ile522Val	PROT:Q9NSE4	IARS2	I	522	V	I522V	Benign	0	1	20	18
MUT:IARS2:Ile830Met	PROT:Q9NSE4	IARS2	I	830	M	I830M	Likely benign	0	1	20	15
MUT:IARS2:Lys576Glu	PROT:Q9NSE4	IARS2	K	576	E	K576E	Benign	0	13	20	29
MUT:IARS2:Met178Val	PROT:Q9NSE4	IARS2	M	178	V	M178V	Likely benign	0	1	20	8
MUT:IARS2:Phe227Ser	PROT:Q9NSE4	IARS2	F	227	S	F227S	Pathogenic	1	1	20	4
MUT:IARS2:Phe779Leu	PROT:Q9NSE4	IARS2	F	779	L	F779L	Likely benign	0	1	20	4
MUT:IARS2:Pro909Ser	PROT:Q9NSE4	IARS2	P	909	S	P909S	Pathogenic	1	1	20	21
MUT:IARS2:Ser46Phe	PROT:Q9NSE4	IARS2	S	46	F	S46F	Benign/Likely benign	0	1	20	87
MUT:IARS2:Tyr609Cys	PROT:Q9NSE4	IARS2	Y	609	C	Y609C	Likely benign	0	1	20	52
MUT:IARS2:Tyr648Cys	PROT:Q9NSE4	IARS2	Y	648	C	Y648C	Benign/Likely benign	0	6	20	13
MUT:IDH2:Ala347Thr	PROT:P48735	IDH2	A	347	T	A347T	Likely pathogenic	1	1	37	3
MUT:IDH2:Arg140Gln	PROT:P48735	IDH2	R	140	Q	R140Q	Pathogenic/Likely pathogenic	1	3	37	2
MUT:IDH2:Arg140Gly	PROT:P48735	IDH2	R	140	G	R140G	Pathogenic	1	1	37	2
MUT:IDH2:Arg172Gly	PROT:P48735	IDH2	R	172	G	R172G	Likely pathogenic	1	2	37	6
MUT:IDH2:Arg261His	PROT:P48735	IDH2	R	261	H	R261H	Benign/Likely benign	0	2	37	2
MUT:IDH2:Asn88His	PROT:P48735	IDH2	N	88	H	N88H	Likely benign	0	1	37	8
MUT:IDH2:Met397Val	PROT:P48735	IDH2	M	397	V	M397V	Likely benign	0	1	37	13
MUT:IDH2:Val297Ala	PROT:P48735	IDH2	V	297	A	V297A	Likely benign	0	1	37	4
MUT:IDH2:Val335Ile	PROT:P48735	IDH2	V	335	I	V335I	Likely benign	0	1	37	15
MUT:IDH3A:Ala175Val	PROT:P50213	IDH3A	A	175	V	A175V	Pathogenic	1	1	12	2
MUT:IDH3A:Arg316Cys	PROT:P50213	IDH3A	R	316	C	R316C	Pathogenic	1	1	12	34
MUT:IDH3A:Arg360Cys	PROT:P50213	IDH3A	R	360	C	R360C	Likely benign	0	1	12	10
MUT:IDH3A:Asp139Glu	PROT:P50213	IDH3A	D	139	E	D139E	Benign/Likely benign	0	1	12	22
MUT:IDH3A:Met204Ile	PROT:P50213	IDH3A	M	204	I	M204I	Pathogenic	1	1	12	3
MUT:IDH3A:Met239Thr	PROT:P50213	IDH3A	M	239	T	M239T	Pathogenic	1	1	12	32
MUT:IDH3G:Arg109Gly	PROT:P51553	IDH3G	R	109	G	R109G	Pathogenic	1	1	16	6
MUT:IDS:Ala205Asp	PROT:P22304	IDS	A	205	D	A205D	Pathogenic	1	1	5	20
MUT:IDS:Ala205Pro	PROT:P22304	IDS	A	205	P	A205P	Pathogenic	1	1	5	20
MUT:IDS:Ala205Thr	PROT:P22304	IDS	A	205	T	A205T	Pathogenic/Likely pathogenic	1	1	5	20
MUT:IDS:Ala338Pro	PROT:P22304	IDS	A	338	P	A338P	Likely pathogenic	1	1	5	71
MUT:IDS:Ala346Asp	PROT:P22304	IDS	A	346	D	A346D	Likely pathogenic	1	1	5	63
MUT:IDS:Ala346Val	PROT:P22304	IDS	A	346	V	A346V	Pathogenic/Likely pathogenic	1	2	5	63
MUT:IDS:Ala387Thr	PROT:P22304	IDS	A	387	T	A387T	Benign/Likely benign	0	2	5	22
MUT:IDS:Ala68Glu	PROT:P22304	IDS	A	68	E	A68E	Likely pathogenic	1	1	5	157
MUT:IDS:Ala77Asp	PROT:P22304	IDS	A	77	D	A77D	Pathogenic	1	1	5	148
MUT:IDS:Ala79Glu	PROT:P22304	IDS	A	79	E	A79E	Likely pathogenic	1	1	5	146
MUT:IDS:Ala79Gly	PROT:P22304	IDS	A	79	G	A79G	Benign/Likely benign	0	1	5	146
MUT:IDS:Ala82Glu	PROT:P22304	IDS	A	82	E	A82E	Likely pathogenic	1	1	5	143
MUT:IDS:Ala82Val	PROT:P22304	IDS	A	82	V	A82V	Pathogenic/Likely pathogenic	1	1	5	143
MUT:IDS:Ala85Asp	PROT:P22304	IDS	A	85	D	A85D	Pathogenic/Likely pathogenic	1	2	5	140
MUT:IDS:Ala85Pro	PROT:P22304	IDS	A	85	P	A85P	Pathogenic	1	1	5	140
MUT:IDS:Ala85Ser	PROT:P22304	IDS	A	85	S	A85S	Pathogenic/Likely pathogenic	1	1	5	140
MUT:IDS:Ala85Thr	PROT:P22304	IDS	A	85	T	A85T	Pathogenic/Likely pathogenic	1	1	5	140
MUT:IDS:Ala85Val	PROT:P22304	IDS	A	85	V	A85V	Likely pathogenic	1	1	5	140
MUT:IDS:Arg110Gly	PROT:P22304	IDS	R	110	G	R110G	Pathogenic/Likely pathogenic	1	1	5	115
MUT:IDS:Arg110Met	PROT:P22304	IDS	R	110	M	R110M	Pathogenic	1	1	5	115
MUT:IDS:Arg110Ser	PROT:P22304	IDS	R	110	S	R110S	Pathogenic	1	1	5	115
MUT:IDS:Arg233Gly	PROT:P22304	IDS	R	233	G	R233G	Likely pathogenic	1	1	5	1
MUT:IDS:Arg271Trp	PROT:P22304	IDS	R	271	W	R271W	Likely pathogenic	1	1	5	37
MUT:IDS:Arg297Cys	PROT:P22304	IDS	R	297	C	R297C	Likely benign	0	1	5	63
MUT:IDS:Arg313Cys	PROT:P22304	IDS	R	313	C	R313C	Benign	0	3	5	79
MUT:IDS:Arg433Gly	PROT:P22304	IDS	R	433	G	R433G	Likely benign	0	2	5	24
MUT:IDS:Arg445Cys	PROT:P22304	IDS	R	445	C	R445C	Likely benign	0	1	5	36
MUT:IDS:Arg468Gln	PROT:P22304	IDS	R	468	Q	R468Q	Pathogenic	1	2	5	22
MUT:IDS:Arg468Gly	PROT:P22304	IDS	R	468	G	R468G	Pathogenic	1	1	5	22
MUT:IDS:Arg468Leu	PROT:P22304	IDS	R	468	L	R468L	Pathogenic	1	2	5	22
MUT:IDS:Arg468Pro	PROT:P22304	IDS	R	468	P	R468P	Pathogenic/Likely pathogenic	1	1	5	22
MUT:IDS:Arg468Trp	PROT:P22304	IDS	R	468	W	R468W	Pathogenic/Likely pathogenic	1	3	5	22
MUT:IDS:Arg48Pro	PROT:P22304	IDS	R	48	P	R48P	Pathogenic	1	1	5	177
MUT:IDS:Arg493Pro	PROT:P22304	IDS	R	493	P	R493P	Pathogenic/Likely pathogenic	1	2	5	3
MUT:IDS:Arg5Trp	PROT:P22304	IDS	R	5	W	R5W	Benign	0	1	5	220
MUT:IDS:Arg88Cys	PROT:P22304	IDS	R	88	C	R88C	Pathogenic	1	1	5	137
MUT:IDS:Arg88Gly	PROT:P22304	IDS	R	88	G	R88G	Pathogenic	1	1	5	137
MUT:IDS:Arg88His	PROT:P22304	IDS	R	88	H	R88H	Pathogenic/Likely pathogenic	1	1	5	137
MUT:IDS:Arg88Leu	PROT:P22304	IDS	R	88	L	R88L	Pathogenic	1	1	5	137
MUT:IDS:Arg88Pro	PROT:P22304	IDS	R	88	P	R88P	Pathogenic	1	1	5	137
MUT:IDS:Arg88Ser	PROT:P22304	IDS	R	88	S	R88S	Pathogenic	1	1	5	137
MUT:IDS:Arg8Leu	PROT:P22304	IDS	R	8	L	R8L	Benign/Likely benign	0	1	5	217
MUT:IDS:Arg95Gly	PROT:P22304	IDS	R	95	G	R95G	Pathogenic/Likely pathogenic	1	1	5	130
MUT:IDS:Arg95Ser	PROT:P22304	IDS	R	95	S	R95S	Pathogenic	1	1	5	130
MUT:IDS:Arg95Thr	PROT:P22304	IDS	R	95	T	R95T	Pathogenic	1	1	5	130
MUT:IDS:Arg95Trp	PROT:P22304	IDS	R	95	W	R95W	Pathogenic	1	1	5	130
MUT:IDS:Asn115Ile	PROT:P22304	IDS	N	115	I	N115I	Pathogenic	1	1	5	110
MUT:IDS:Asn115Tyr	PROT:P22304	IDS	N	115	Y	N115Y	Pathogenic	1	1	5	110
MUT:IDS:Asn181Ile	PROT:P22304	IDS	N	181	I	N181I	Likely pathogenic	1	1	5	44
MUT:IDS:Asn265Ile	PROT:P22304	IDS	N	265	I	N265I	Likely pathogenic	1	1	5	31
MUT:IDS:Asn265Lys	PROT:P22304	IDS	N	265	K	N265K	Pathogenic/Likely pathogenic	1	1	5	31
MUT:IDS:Asn31Ser	PROT:P22304	IDS	N	31	S	N31S	Likely benign	0	1	5	194
MUT:IDS:Asn325Ser	PROT:P22304	IDS	N	325	S	N325S	Likely benign	0	1	5	84
MUT:IDS:Asn350His	PROT:P22304	IDS	N	350	H	N350H	Likely pathogenic	1	1	5	59
MUT:IDS:Asn350Lys	PROT:P22304	IDS	N	350	K	N350K	Likely pathogenic	1	1	5	59
MUT:IDS:Asn350Tyr	PROT:P22304	IDS	N	350	Y	N350Y	Likely pathogenic	1	1	5	59
MUT:IDS:Asn534Ile	PROT:P22304	IDS	N	534	I	N534I	Likely pathogenic	1	1	5	37
MUT:IDS:Asn63Asp	PROT:P22304	IDS	N	63	D	N63D	Pathogenic/Likely pathogenic	1	1	5	162
MUT:IDS:Asn63Lys	PROT:P22304	IDS	N	63	K	N63K	Pathogenic	1	1	5	162
MUT:IDS:Asp148Ala	PROT:P22304	IDS	D	148	A	D148A	Pathogenic	1	1	5	77
MUT:IDS:Asp148Asn	PROT:P22304	IDS	D	148	N	D148N	Pathogenic/Likely pathogenic	1	1	5	77
MUT:IDS:Asp148His	PROT:P22304	IDS	D	148	H	D148H	Pathogenic	1	1	5	77
MUT:IDS:Asp148Tyr	PROT:P22304	IDS	D	148	Y	D148Y	Pathogenic/Likely pathogenic	1	1	5	77
MUT:IDS:Asp148Val	PROT:P22304	IDS	D	148	V	D148V	Pathogenic	1	1	5	77
MUT:IDS:Asp187Val	PROT:P22304	IDS	D	187	V	D187V	Likely pathogenic	1	1	5	38
MUT:IDS:Asp198Ala	PROT:P22304	IDS	D	198	A	D198A	Likely pathogenic	1	1	5	27
MUT:IDS:Asp198Asn	PROT:P22304	IDS	D	198	N	D198N	Pathogenic/Likely pathogenic	1	1	5	27
MUT:IDS:Asp198Gly	PROT:P22304	IDS	D	198	G	D198G	Likely pathogenic	1	1	5	27
MUT:IDS:Asp269Ala	PROT:P22304	IDS	D	269	A	D269A	Likely pathogenic	1	1	5	35
MUT:IDS:Asp269Val	PROT:P22304	IDS	D	269	V	D269V	Pathogenic/Likely pathogenic	1	1	5	35
MUT:IDS:Asp275Asn	PROT:P22304	IDS	D	275	N	D275N	Likely pathogenic	1	1	5	41
MUT:IDS:Asp275Tyr	PROT:P22304	IDS	D	275	Y	D275Y	Likely pathogenic	1	1	5	41
MUT:IDS:Asp308Asn	PROT:P22304	IDS	D	308	N	D308N	Pathogenic	1	1	5	74
MUT:IDS:Asp308Glu	PROT:P22304	IDS	D	308	E	D308E	Pathogenic	1	1	5	74
MUT:IDS:Asp308Gly	PROT:P22304	IDS	D	308	G	D308G	Pathogenic/Likely pathogenic	1	1	5	74
MUT:IDS:Asp308His	PROT:P22304	IDS	D	308	H	D308H	Likely pathogenic	1	1	5	74
MUT:IDS:Asp308Tyr	PROT:P22304	IDS	D	308	Y	D308Y	Pathogenic	1	1	5	74
MUT:IDS:Asp319Asn	PROT:P22304	IDS	D	319	N	D319N	Likely benign	0	1	5	85
MUT:IDS:Asp334Ala	PROT:P22304	IDS	D	334	A	D334A	Pathogenic	1	1	5	75
MUT:IDS:Asp334Asn	PROT:P22304	IDS	D	334	N	D334N	Pathogenic	1	1	5	75
MUT:IDS:Asp334Gly	PROT:P22304	IDS	D	334	G	D334G	Likely pathogenic	1	1	5	75
MUT:IDS:Asp334Tyr	PROT:P22304	IDS	D	334	Y	D334Y	Likely pathogenic	1	1	5	75
MUT:IDS:Asp334Val	PROT:P22304	IDS	D	334	V	D334V	Likely pathogenic	1	1	5	75
MUT:IDS:Asp35His	PROT:P22304	IDS	D	35	H	D35H	Likely pathogenic	1	1	5	190
MUT:IDS:Asp35Tyr	PROT:P22304	IDS	D	35	Y	D35Y	Likely pathogenic	1	1	5	190
MUT:IDS:Asp382Asn	PROT:P22304	IDS	D	382	N	D382N	Likely benign	0	1	5	27
MUT:IDS:Asp399Val	PROT:P22304	IDS	D	399	V	D399V	Likely benign	0	1	5	10
MUT:IDS:Asp45Asn	PROT:P22304	IDS	D	45	N	D45N	Pathogenic	1	1	5	180
MUT:IDS:Asp45Glu	PROT:P22304	IDS	D	45	E	D45E	Pathogenic	1	1	5	180
MUT:IDS:Asp45Gly	PROT:P22304	IDS	D	45	G	D45G	Pathogenic/Likely pathogenic	1	1	5	180
MUT:IDS:Asp45His	PROT:P22304	IDS	D	45	H	D45H	Pathogenic/Likely pathogenic	1	1	5	180
MUT:IDS:Asp45Val	PROT:P22304	IDS	D	45	V	D45V	Likely pathogenic	1	1	5	180
MUT:IDS:Asp46Ala	PROT:P22304	IDS	D	46	A	D46A	Pathogenic	1	1	5	179
MUT:IDS:Asp46Asn	PROT:P22304	IDS	D	46	N	D46N	Pathogenic	1	1	5	179
MUT:IDS:Asp46Glu	PROT:P22304	IDS	D	46	E	D46E	Pathogenic	1	1	5	179
MUT:IDS:Asp46Tyr	PROT:P22304	IDS	D	46	Y	D46Y	Likely pathogenic	1	1	5	179
MUT:IDS:Asp471His	PROT:P22304	IDS	D	471	H	D471H	Likely pathogenic	1	1	5	19
MUT:IDS:Asp478Asn	PROT:P22304	IDS	D	478	N	D478N	Likely pathogenic	1	1	5	12
MUT:IDS:Asp478Gly	PROT:P22304	IDS	D	478	G	D478G	Pathogenic/Likely pathogenic	1	1	5	12
MUT:IDS:Asp478His	PROT:P22304	IDS	D	478	H	D478H	Likely pathogenic	1	1	5	12
MUT:IDS:Asp478Tyr	PROT:P22304	IDS	D	478	Y	D478Y	Likely pathogenic	1	1	5	12
MUT:IDS:Cys171Arg	PROT:P22304	IDS	C	171	R	C171R	Likely pathogenic	1	1	5	54
MUT:IDS:Cys171Tyr	PROT:P22304	IDS	C	171	Y	C171Y	Pathogenic	1	1	5	54
MUT:IDS:Cys184Phe	PROT:P22304	IDS	C	184	F	C184F	Pathogenic	1	1	5	41
MUT:IDS:Cys184Trp	PROT:P22304	IDS	C	184	W	C184W	Pathogenic	1	1	5	41
MUT:IDS:Cys422Arg	PROT:P22304	IDS	C	422	R	C422R	Pathogenic/Likely pathogenic	1	1	5	13
MUT:IDS:Cys422Gly	PROT:P22304	IDS	C	422	G	C422G	Pathogenic	1	1	5	13
MUT:IDS:Cys422Phe	PROT:P22304	IDS	C	422	F	C422F	Pathogenic/Likely pathogenic	1	1	5	13
MUT:IDS:Cys422Tyr	PROT:P22304	IDS	C	422	Y	C422Y	Pathogenic/Likely pathogenic	1	1	5	13
MUT:IDS:Cys432Arg	PROT:P22304	IDS	C	432	R	C432R	Pathogenic/Likely pathogenic	1	1	5	23
MUT:IDS:Cys432Tyr	PROT:P22304	IDS	C	432	Y	C432Y	Pathogenic	1	1	5	23
MUT:IDS:Cys84Ser	PROT:P22304	IDS	C	84	S	C84S	Pathogenic	1	1	5	141
MUT:IDS:Cys84Trp	PROT:P22304	IDS	C	84	W	C84W	Pathogenic/Likely pathogenic	1	1	5	141
MUT:IDS:Cys84Tyr	PROT:P22304	IDS	C	84	Y	C84Y	Likely pathogenic	1	1	5	141
MUT:IDS:Gln121Arg	PROT:P22304	IDS	Q	121	R	Q121R	Likely pathogenic	1	1	5	104
MUT:IDS:Gln121His	PROT:P22304	IDS	Q	121	H	Q121H	Likely pathogenic	1	1	5	104
MUT:IDS:Gln121Lys	PROT:P22304	IDS	Q	121	K	Q121K	Likely pathogenic	1	1	5	104
MUT:IDS:Gln293His	PROT:P22304	IDS	Q	293	H	Q293H	Likely pathogenic	1	2	5	59
MUT:IDS:Gln310Arg	PROT:P22304	IDS	Q	310	R	Q310R	Likely benign	0	1	5	76
MUT:IDS:Gln310Pro	PROT:P22304	IDS	Q	310	P	Q310P	Likely pathogenic	1	1	5	76
MUT:IDS:Gln389Leu	PROT:P22304	IDS	Q	389	L	Q389L	Likely benign	0	1	5	20
MUT:IDS:Gln465Leu	PROT:P22304	IDS	Q	465	L	Q465L	Likely pathogenic	1	1	5	25
MUT:IDS:Gln465Pro	PROT:P22304	IDS	Q	465	P	Q465P	Likely pathogenic	1	1	5	25
MUT:IDS:Gln80Arg	PROT:P22304	IDS	Q	80	R	Q80R	Pathogenic/Likely pathogenic	1	1	5	145
MUT:IDS:Gln80Lys	PROT:P22304	IDS	Q	80	K	Q80K	Likely pathogenic	1	1	5	145
MUT:IDS:Gln81Arg	PROT:P22304	IDS	Q	81	R	Q81R	Pathogenic	1	1	5	144
MUT:IDS:Glu125Val	PROT:P22304	IDS	E	125	V	E125V	Likely pathogenic	1	1	5	100
MUT:IDS:Glu193Gly	PROT:P22304	IDS	E	193	G	E193G	Likely benign	0	1	5	32
MUT:IDS:Glu210Gly	PROT:P22304	IDS	E	210	G	E210G	Likely pathogenic	1	1	5	15
MUT:IDS:Glu254Lys	PROT:P22304	IDS	E	254	K	E254K	Likely benign	0	2	5	20
MUT:IDS:Glu341Lys	PROT:P22304	IDS	E	341	K	E341K	Likely pathogenic	1	1	5	68
MUT:IDS:Glu402Lys	PROT:P22304	IDS	E	402	K	E402K	Likely pathogenic	1	1	5	7
MUT:IDS:Glu434Lys	PROT:P22304	IDS	E	434	K	E434K	Likely pathogenic	1	1	5	25
MUT:IDS:Glu521Asp	PROT:P22304	IDS	E	521	D	E521D	Likely pathogenic	1	1	5	24
MUT:IDS:Glu521Lys	PROT:P22304	IDS	E	521	K	E521K	Pathogenic/Likely pathogenic	1	1	5	24
MUT:IDS:Glu521Val	PROT:P22304	IDS	E	521	V	E521V	Likely pathogenic	1	1	5	24
MUT:IDS:Gly134Glu	PROT:P22304	IDS	G	134	E	G134E	Pathogenic/Likely pathogenic	1	1	5	91
MUT:IDS:Gly134Val	PROT:P22304	IDS	G	134	V	G134V	Likely pathogenic	1	1	5	91
MUT:IDS:Gly140Arg	PROT:P22304	IDS	G	140	R	G140R	Pathogenic	1	1	5	85
MUT:IDS:Gly140Val	PROT:P22304	IDS	G	140	V	G140V	Pathogenic	1	1	5	85
MUT:IDS:Gly14Asp	PROT:P22304	IDS	G	14	D	G14D	Benign/Likely benign	0	2	5	211
MUT:IDS:Gly173Arg	PROT:P22304	IDS	G	173	R	G173R	Likely benign	0	1	5	52
MUT:IDS:Gly224Ala	PROT:P22304	IDS	G	224	A	G224A	Pathogenic/Likely pathogenic	1	1	5	1
MUT:IDS:Gly224Glu	PROT:P22304	IDS	G	224	E	G224E	Pathogenic	1	1	5	1
MUT:IDS:Gly312Asp	PROT:P22304	IDS	G	312	D	G312D	Pathogenic/Likely pathogenic	1	1	5	78
MUT:IDS:Gly312Cys	PROT:P22304	IDS	G	312	C	G312C	Likely pathogenic	1	1	5	78
MUT:IDS:Gly336Arg	PROT:P22304	IDS	G	336	R	G336R	Pathogenic	1	1	5	73
MUT:IDS:Gly336Glu	PROT:P22304	IDS	G	336	E	G336E	Pathogenic/Likely pathogenic	1	1	5	73
MUT:IDS:Gly336Trp	PROT:P22304	IDS	G	336	W	G336W	Likely pathogenic	1	1	5	73
MUT:IDS:Gly336Val	PROT:P22304	IDS	G	336	V	G336V	Pathogenic	1	1	5	73
MUT:IDS:Gly340Arg	PROT:P22304	IDS	G	340	R	G340R	Pathogenic/Likely pathogenic	1	1	5	69
MUT:IDS:Gly340Asp	PROT:P22304	IDS	G	340	D	G340D	Pathogenic	1	1	5	69
MUT:IDS:Gly340Val	PROT:P22304	IDS	G	340	V	G340V	Pathogenic	1	1	5	69
MUT:IDS:Gly343Glu	PROT:P22304	IDS	G	343	E	G343E	Likely pathogenic	1	1	5	66
MUT:IDS:Gly343Val	PROT:P22304	IDS	G	343	V	G343V	Likely pathogenic	1	1	5	66
MUT:IDS:Gly489Asp	PROT:P22304	IDS	G	489	D	G489D	Pathogenic	1	1	5	1
MUT:IDS:Gly489Val	PROT:P22304	IDS	G	489	V	G489V	Pathogenic	1	1	5	1
MUT:IDS:Gly94Asp	PROT:P22304	IDS	G	94	D	G94D	Likely pathogenic	1	1	5	131
MUT:IDS:His138Arg	PROT:P22304	IDS	H	138	R	H138R	Pathogenic	1	1	5	87
MUT:IDS:His138Asp	PROT:P22304	IDS	H	138	D	H138D	Pathogenic	1	1	5	87
MUT:IDS:His138Tyr	PROT:P22304	IDS	H	138	Y	H138Y	Pathogenic/Likely pathogenic	1	1	5	87
MUT:IDS:His159Pro	PROT:P22304	IDS	H	159	P	H159P	Likely pathogenic	1	1	5	66
MUT:IDS:His226Asp	PROT:P22304	IDS	H	226	D	H226D	Likely pathogenic	1	1	5	1
MUT:IDS:His229Arg	PROT:P22304	IDS	H	229	R	H229R	Pathogenic	1	1	5	4
MUT:IDS:His229Gln	PROT:P22304	IDS	H	229	Q	H229Q	Pathogenic	1	1	5	4
MUT:IDS:His229Leu	PROT:P22304	IDS	H	229	L	H229L	Pathogenic	1	1	5	4
MUT:IDS:His229Tyr	PROT:P22304	IDS	H	229	Y	H229Y	Pathogenic/Likely pathogenic	1	1	5	4
MUT:IDS:His335Arg	PROT:P22304	IDS	H	335	R	H335R	Pathogenic/Likely pathogenic	1	1	5	74
MUT:IDS:His335Leu	PROT:P22304	IDS	H	335	L	H335L	Likely pathogenic	1	1	5	74
MUT:IDS:His335Pro	PROT:P22304	IDS	H	335	P	H335P	Pathogenic	1	1	5	74
MUT:IDS:His335Tyr	PROT:P22304	IDS	H	335	Y	H335Y	Pathogenic/Likely pathogenic	1	1	5	74
MUT:IDS:His342Arg	PROT:P22304	IDS	H	342	R	H342R	Pathogenic/Likely pathogenic	1	1	5	67
MUT:IDS:His342Leu	PROT:P22304	IDS	H	342	L	H342L	Likely pathogenic	1	1	5	67
MUT:IDS:His342Pro	PROT:P22304	IDS	H	342	P	H342P	Likely pathogenic	1	1	5	67
MUT:IDS:His342Tyr	PROT:P22304	IDS	H	342	Y	H342Y	Likely pathogenic	1	1	5	67
MUT:IDS:His356Arg	PROT:P22304	IDS	H	356	R	H356R	Likely benign	0	1	5	53
MUT:IDS:Ile141Leu	PROT:P22304	IDS	I	141	L	I141L	Likely benign	0	1	5	84
MUT:IDS:Ile230Phe	PROT:P22304	IDS	I	230	F	I230F	Pathogenic/Likely pathogenic	1	1	5	4
MUT:IDS:Ile328Val	PROT:P22304	IDS	I	328	V	I328V	Likely benign	0	1	5	81
MUT:IDS:Ile485Arg	PROT:P22304	IDS	I	485	R	I485R	Pathogenic	1	1	5	5
MUT:IDS:Ile485Leu	PROT:P22304	IDS	I	485	L	I485L	Pathogenic	1	1	5	5
MUT:IDS:Ile485Lys	PROT:P22304	IDS	I	485	K	I485K	Likely pathogenic	1	1	5	5
MUT:IDS:Ile64Asn	PROT:P22304	IDS	I	64	N	I64N	Pathogenic	1	1	5	161
MUT:IDS:Leu102Arg	PROT:P22304	IDS	L	102	R	L102R	Likely pathogenic	1	1	5	123
MUT:IDS:Leu102Pro	PROT:P22304	IDS	L	102	P	L102P	Likely pathogenic	1	1	5	123
MUT:IDS:Leu182Pro	PROT:P22304	IDS	L	182	P	L182P	Likely pathogenic	1	1	5	43
MUT:IDS:Leu196Ser	PROT:P22304	IDS	L	196	S	L196S	Pathogenic/Likely pathogenic	1	1	5	29
MUT:IDS:Leu221Pro	PROT:P22304	IDS	L	221	P	L221P	Likely pathogenic	1	1	5	4
MUT:IDS:Leu259Arg	PROT:P22304	IDS	L	259	R	L259R	Likely pathogenic	1	1	5	25
MUT:IDS:Leu259Pro	PROT:P22304	IDS	L	259	P	L259P	Likely pathogenic	1	1	5	25
MUT:IDS:Leu314His	PROT:P22304	IDS	L	314	H	L314H	Likely pathogenic	1	1	5	80
MUT:IDS:Leu314Pro	PROT:P22304	IDS	L	314	P	L314P	Likely pathogenic	1	1	5	80
MUT:IDS:Leu339Arg	PROT:P22304	IDS	L	339	R	L339R	Pathogenic	1	1	5	70
MUT:IDS:Leu339Pro	PROT:P22304	IDS	L	339	P	L339P	Pathogenic/Likely pathogenic	1	1	5	70
MUT:IDS:Leu381Arg	PROT:P22304	IDS	L	381	R	L381R	Likely pathogenic	1	1	5	28
MUT:IDS:Leu381Pro	PROT:P22304	IDS	L	381	P	L381P	Likely pathogenic	1	1	5	28
MUT:IDS:Leu403Arg	PROT:P22304	IDS	L	403	R	L403R	Likely pathogenic	1	1	5	6
MUT:IDS:Leu410Pro	PROT:P22304	IDS	L	410	P	L410P	Likely pathogenic	1	1	5	1
MUT:IDS:Leu41Pro	PROT:P22304	IDS	L	41	P	L41P	Likely pathogenic	1	1	5	184
MUT:IDS:Leu447Phe	PROT:P22304	IDS	L	447	F	L447F	Likely pathogenic	1	1	5	38
MUT:IDS:Leu47Pro	PROT:P22304	IDS	L	47	P	L47P	Likely pathogenic	1	1	5	178
MUT:IDS:Leu522Pro	PROT:P22304	IDS	L	522	P	L522P	Likely pathogenic	1	1	5	25
MUT:IDS:Leu67Arg	PROT:P22304	IDS	L	67	R	L67R	Likely pathogenic	1	1	5	158
MUT:IDS:Leu72Pro	PROT:P22304	IDS	L	72	P	L72P	Likely pathogenic	1	1	5	153
MUT:IDS:Leu92Arg	PROT:P22304	IDS	L	92	R	L92R	Likely pathogenic	1	1	5	133
MUT:IDS:Leu92Pro	PROT:P22304	IDS	L	92	P	L92P	Likely pathogenic	1	1	5	133
MUT:IDS:Lys135Arg	PROT:P22304	IDS	K	135	R	K135R	Pathogenic/Likely pathogenic	1	1	5	90
MUT:IDS:Lys135Asn	PROT:P22304	IDS	K	135	N	K135N	Pathogenic	1	1	5	90
MUT:IDS:Lys135Glu	PROT:P22304	IDS	K	135	E	K135E	Pathogenic	1	1	5	90
MUT:IDS:Lys227Gln	PROT:P22304	IDS	K	227	Q	K227Q	Likely pathogenic	1	1	5	2
MUT:IDS:Lys227Met	PROT:P22304	IDS	K	227	M	K227M	Likely pathogenic	1	1	5	2
MUT:IDS:Lys236Asn	PROT:P22304	IDS	K	236	N	K236N	Likely pathogenic	1	2	5	2
MUT:IDS:Lys295Arg	PROT:P22304	IDS	K	295	R	K295R	Benign/Likely benign	0	2	5	61
MUT:IDS:Lys347Arg	PROT:P22304	IDS	K	347	R	K347R	Likely pathogenic	1	1	5	62
MUT:IDS:Lys347Gln	PROT:P22304	IDS	K	347	Q	K347Q	Pathogenic	1	1	5	62
MUT:IDS:Lys347Glu	PROT:P22304	IDS	K	347	E	K347E	Pathogenic	1	1	5	62
MUT:IDS:Lys347Ile	PROT:P22304	IDS	K	347	I	K347I	Pathogenic	1	1	5	62
MUT:IDS:Lys347Thr	PROT:P22304	IDS	K	347	T	K347T	Likely pathogenic	1	1	5	62
MUT:IDS:Met1Leu	PROT:P22304	IDS	M	1	L	M1L	Pathogenic	1	1	5	224
MUT:IDS:Met1Thr	PROT:P22304	IDS	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	5	224
MUT:IDS:Met212Ile	PROT:P22304	IDS	M	212	I	M212I	Benign	0	1	5	13
MUT:IDS:Met488Arg	PROT:P22304	IDS	M	488	R	M488R	Likely pathogenic	1	1	5	2
MUT:IDS:Met488Ile	PROT:P22304	IDS	M	488	I	M488I	Likely pathogenic	1	1	5	2
MUT:IDS:Phe137Ser	PROT:P22304	IDS	F	137	S	F137S	Pathogenic	1	1	5	88
MUT:IDS:Phe155Leu	PROT:P22304	IDS	F	155	L	F155L	Benign	0	3	5	70
MUT:IDS:Phe361Leu	PROT:P22304	IDS	F	361	L	F361L	Likely benign	0	1	5	48
MUT:IDS:Pro120Arg	PROT:P22304	IDS	P	120	R	P120R	Pathogenic	1	1	5	105
MUT:IDS:Pro120His	PROT:P22304	IDS	P	120	H	P120H	Pathogenic/Likely pathogenic	1	1	5	105
MUT:IDS:Pro150Ser	PROT:P22304	IDS	P	150	S	P150S	Likely benign	0	1	5	75
MUT:IDS:Pro156Gln	PROT:P22304	IDS	P	156	Q	P156Q	Benign	0	2	5	69
MUT:IDS:Pro160Arg	PROT:P22304	IDS	P	160	R	P160R	Pathogenic	1	1	5	65
MUT:IDS:Pro160His	PROT:P22304	IDS	P	160	H	P160H	Likely pathogenic	1	1	5	65
MUT:IDS:Pro160Leu	PROT:P22304	IDS	P	160	L	P160L	Pathogenic/Likely pathogenic	1	1	5	65
MUT:IDS:Pro197Arg	PROT:P22304	IDS	P	197	R	P197R	Likely pathogenic	1	1	5	28
MUT:IDS:Pro197Leu	PROT:P22304	IDS	P	197	L	P197L	Likely pathogenic	1	1	5	28
MUT:IDS:Pro228Ala	PROT:P22304	IDS	P	228	A	P228A	Likely pathogenic	1	1	5	3
MUT:IDS:Pro228Gln	PROT:P22304	IDS	P	228	Q	P228Q	Pathogenic/Likely pathogenic	1	1	5	3
MUT:IDS:Pro228Leu	PROT:P22304	IDS	P	228	L	P228L	Pathogenic/Likely pathogenic	1	1	5	3
MUT:IDS:Pro228Ser	PROT:P22304	IDS	P	228	S	P228S	Likely pathogenic	1	1	5	3
MUT:IDS:Pro228Thr	PROT:P22304	IDS	P	228	T	P228T	Likely pathogenic	1	1	5	3
MUT:IDS:Pro231Arg	PROT:P22304	IDS	P	231	R	P231R	Pathogenic/Likely pathogenic	1	1	5	3
MUT:IDS:Pro231Leu	PROT:P22304	IDS	P	231	L	P231L	Pathogenic/Likely pathogenic	1	1	5	3
MUT:IDS:Pro243Ser	PROT:P22304	IDS	P	243	S	P243S	Benign/Likely benign	0	2	5	9
MUT:IDS:Pro261Thr	PROT:P22304	IDS	P	261	T	P261T	Benign	0	1	5	27
MUT:IDS:Pro266Arg	PROT:P22304	IDS	P	266	R	P266R	Pathogenic	1	1	5	32
MUT:IDS:Pro266His	PROT:P22304	IDS	P	266	H	P266H	Pathogenic	1	1	5	32
MUT:IDS:Pro358Arg	PROT:P22304	IDS	P	358	R	P358R	Likely pathogenic	1	1	5	51
MUT:IDS:Pro371Leu	PROT:P22304	IDS	P	371	L	P371L	Likely benign	0	1	5	38
MUT:IDS:Pro408Ala	PROT:P22304	IDS	P	408	A	P408A	Likely benign	0	1	5	1
MUT:IDS:Pro423Leu	PROT:P22304	IDS	P	423	L	P423L	Likely benign	0	1	5	14
MUT:IDS:Pro423Ser	PROT:P22304	IDS	P	423	S	P423S	Likely pathogenic	1	1	5	14
MUT:IDS:Pro451Arg	PROT:P22304	IDS	P	451	R	P451R	Likely benign	0	1	5	39
MUT:IDS:Pro467Arg	PROT:P22304	IDS	P	467	R	P467R	Pathogenic/Likely pathogenic	1	1	5	23
MUT:IDS:Pro467Leu	PROT:P22304	IDS	P	467	L	P467L	Pathogenic	1	1	5	23
MUT:IDS:Pro469Arg	PROT:P22304	IDS	P	469	R	P469R	Likely pathogenic	1	1	5	21
MUT:IDS:Pro469His	PROT:P22304	IDS	P	469	H	P469H	Likely pathogenic	1	1	5	21
MUT:IDS:Pro469Leu	PROT:P22304	IDS	P	469	L	P469L	Likely pathogenic	1	1	5	21
MUT:IDS:Pro480Arg	PROT:P22304	IDS	P	480	R	P480R	Pathogenic	1	1	5	10
MUT:IDS:Pro480Gln	PROT:P22304	IDS	P	480	Q	P480Q	Pathogenic	1	1	5	10
MUT:IDS:Pro480Leu	PROT:P22304	IDS	P	480	L	P480L	Pathogenic/Likely pathogenic	1	2	5	10
MUT:IDS:Pro86Arg	PROT:P22304	IDS	P	86	R	P86R	Pathogenic	1	1	5	139
MUT:IDS:Pro86Gln	PROT:P22304	IDS	P	86	Q	P86Q	Pathogenic	1	1	5	139
MUT:IDS:Pro86Leu	PROT:P22304	IDS	P	86	L	P86L	Pathogenic	1	2	5	139
MUT:IDS:Pro97Arg	PROT:P22304	IDS	P	97	R	P97R	Likely pathogenic	1	1	5	128
MUT:IDS:Ser117Tyr	PROT:P22304	IDS	S	117	Y	S117Y	Likely pathogenic	1	1	5	108
MUT:IDS:Ser132Trp	PROT:P22304	IDS	S	132	W	S132W	Likely pathogenic	1	1	5	93
MUT:IDS:Ser142Phe	PROT:P22304	IDS	S	142	F	S142F	Likely pathogenic	1	1	5	83
MUT:IDS:Ser142Tyr	PROT:P22304	IDS	S	142	Y	S142Y	Pathogenic/Likely pathogenic	1	1	5	83
MUT:IDS:Ser143Phe	PROT:P22304	IDS	S	143	F	S143F	Likely pathogenic	1	1	5	82
MUT:IDS:Ser149Ala	PROT:P22304	IDS	S	149	A	S149A	Benign/Likely benign	0	2	5	76
MUT:IDS:Ser152Arg	PROT:P22304	IDS	S	152	R	S152R	Pathogenic/Likely pathogenic	1	1	5	73
MUT:IDS:Ser152Asn	PROT:P22304	IDS	S	152	N	S152N	Likely pathogenic	1	1	5	73
MUT:IDS:Ser152Gly	PROT:P22304	IDS	S	152	G	S152G	Pathogenic	1	1	5	73
MUT:IDS:Ser152Ile	PROT:P22304	IDS	S	152	I	S152I	Pathogenic	1	1	5	73
MUT:IDS:Ser162Pro	PROT:P22304	IDS	S	162	P	S162P	Likely pathogenic	1	1	5	63
MUT:IDS:Ser299Arg	PROT:P22304	IDS	S	299	R	S299R	Likely pathogenic	1	1	5	65
MUT:IDS:Ser299Ile	PROT:P22304	IDS	S	299	I	S299I	Likely pathogenic	1	1	5	65
MUT:IDS:Ser303Phe	PROT:P22304	IDS	S	303	F	S303F	Pathogenic/Likely pathogenic	1	1	5	69
MUT:IDS:Ser303Pro	PROT:P22304	IDS	S	303	P	S303P	Likely pathogenic	1	1	5	69
MUT:IDS:Ser305Pro	PROT:P22304	IDS	S	305	P	S305P	Likely pathogenic	1	1	5	71
MUT:IDS:Ser333Leu	PROT:P22304	IDS	S	333	L	S333L	Pathogenic	1	1	5	76
MUT:IDS:Ser333Trp	PROT:P22304	IDS	S	333	W	S333W	Pathogenic/Likely pathogenic	1	1	5	76
MUT:IDS:Ser349Arg	PROT:P22304	IDS	S	349	R	S349R	Pathogenic/Likely pathogenic	1	1	5	60
MUT:IDS:Ser349Ile	PROT:P22304	IDS	S	349	I	S349I	Pathogenic	1	1	5	60
MUT:IDS:Ser464Arg	PROT:P22304	IDS	S	464	R	S464R	Likely pathogenic	1	1	5	26
MUT:IDS:Ser491Phe	PROT:P22304	IDS	S	491	F	S491F	Likely pathogenic	1	1	5	1
MUT:IDS:Ser61Phe	PROT:P22304	IDS	S	61	F	S61F	Likely pathogenic	1	1	5	164
MUT:IDS:Ser61Pro	PROT:P22304	IDS	S	61	P	S61P	Pathogenic/Likely pathogenic	1	1	5	164
MUT:IDS:Ser61Tyr	PROT:P22304	IDS	S	61	Y	S61Y	Likely pathogenic	1	1	5	164
MUT:IDS:Ser69Thr	PROT:P22304	IDS	S	69	T	S69T	Likely benign	0	1	5	156
MUT:IDS:Ser71Arg	PROT:P22304	IDS	S	71	R	S71R	Likely pathogenic	1	1	5	154
MUT:IDS:Ser71Asn	PROT:P22304	IDS	S	71	N	S71N	Pathogenic/Likely pathogenic	1	1	5	154
MUT:IDS:Ser71Ile	PROT:P22304	IDS	S	71	I	S71I	Likely pathogenic	1	1	5	154
MUT:IDS:Ser87Arg	PROT:P22304	IDS	S	87	R	S87R	Pathogenic	1	1	5	138
MUT:IDS:Ser87Thr	PROT:P22304	IDS	S	87	T	S87T	Pathogenic	1	1	5	138
MUT:IDS:Ser90Pro	PROT:P22304	IDS	S	90	P	S90P	Likely pathogenic	1	1	5	135
MUT:IDS:Thr118Ile	PROT:P22304	IDS	T	118	I	T118I	Pathogenic/Likely pathogenic	1	2	5	107
MUT:IDS:Thr130Asn	PROT:P22304	IDS	T	130	N	T130N	Pathogenic	1	1	5	95
MUT:IDS:Thr130Ile	PROT:P22304	IDS	T	130	I	T130I	Likely pathogenic	1	1	5	95
MUT:IDS:Thr214Arg	PROT:P22304	IDS	T	214	R	T214R	Likely pathogenic	1	2	5	11
MUT:IDS:Thr309Ala	PROT:P22304	IDS	T	309	A	T309A	Benign/Likely benign	0	2	5	75
MUT:IDS:Thr327Pro	PROT:P22304	IDS	T	327	P	T327P	Likely pathogenic	1	1	5	82
MUT:IDS:Thr332Ile	PROT:P22304	IDS	T	332	I	T332I	Likely benign	0	1	5	77
MUT:IDS:Thr33Ser	PROT:P22304	IDS	T	33	S	T33S	Likely benign	0	1	5	192
MUT:IDS:Thr409Arg	PROT:P22304	IDS	T	409	R	T409R	Likely pathogenic	1	2	5	0
MUT:IDS:Thr409Met	PROT:P22304	IDS	T	409	M	T409M	Likely benign	0	2	5	0
MUT:IDS:Trp109Arg	PROT:P22304	IDS	W	109	R	W109R	Likely pathogenic	1	1	5	116
MUT:IDS:Trp109Cys	PROT:P22304	IDS	W	109	C	W109C	Likely pathogenic	1	1	5	116
MUT:IDS:Trp109Gly	PROT:P22304	IDS	W	109	G	W109G	Likely pathogenic	1	1	5	116
MUT:IDS:Trp12Arg	PROT:P22304	IDS	W	12	R	W12R	Likely benign	0	1	5	213
MUT:IDS:Trp153Arg	PROT:P22304	IDS	W	153	R	W153R	Pathogenic	1	1	5	72
MUT:IDS:Trp153Leu	PROT:P22304	IDS	W	153	L	W153L	Pathogenic	1	1	5	72
MUT:IDS:Trp267Cys	PROT:P22304	IDS	W	267	C	W267C	Pathogenic/Likely pathogenic	1	2	5	33
MUT:IDS:Trp337Arg	PROT:P22304	IDS	W	337	R	W337R	Pathogenic	1	1	5	72
MUT:IDS:Trp345Arg	PROT:P22304	IDS	W	345	R	W345R	Pathogenic/Likely pathogenic	1	1	5	64
MUT:IDS:Trp345Cys	PROT:P22304	IDS	W	345	C	W345C	Likely pathogenic	1	1	5	64
MUT:IDS:Trp345Leu	PROT:P22304	IDS	W	345	L	W345L	Likely pathogenic	1	1	5	64
MUT:IDS:Trp345Ser	PROT:P22304	IDS	W	345	S	W345S	Likely pathogenic	1	1	5	64
MUT:IDS:Trp502Cys	PROT:P22304	IDS	W	502	C	W502C	Likely pathogenic	1	1	5	5
MUT:IDS:Trp502Gly	PROT:P22304	IDS	W	502	G	W502G	Pathogenic/Likely pathogenic	1	1	5	5
MUT:IDS:Trp502Ser	PROT:P22304	IDS	W	502	S	W502S	Pathogenic	1	1	5	5
MUT:IDS:Tyr103Asp	PROT:P22304	IDS	Y	103	D	Y103D	Likely pathogenic	1	1	5	122
MUT:IDS:Tyr108Asp	PROT:P22304	IDS	Y	108	D	Y108D	Likely pathogenic	1	1	5	117
MUT:IDS:Tyr108Cys	PROT:P22304	IDS	Y	108	C	Y108C	Likely pathogenic	1	1	5	117
MUT:IDS:Tyr108Ser	PROT:P22304	IDS	Y	108	S	Y108S	Likely pathogenic	1	1	5	117
MUT:IDS:Tyr225Asp	PROT:P22304	IDS	Y	225	D	Y225D	Likely pathogenic	1	1	5	0
MUT:IDS:Tyr264Asn	PROT:P22304	IDS	Y	264	N	Y264N	Likely pathogenic	1	1	5	30
MUT:IDS:Tyr348His	PROT:P22304	IDS	Y	348	H	Y348H	Likely pathogenic	1	1	5	61
MUT:IDS:Tyr490Ser	PROT:P22304	IDS	Y	490	S	Y490S	Likely pathogenic	1	1	5	0
MUT:IDS:Tyr497Cys	PROT:P22304	IDS	Y	497	C	Y497C	Benign/Likely benign	0	1	5	0
MUT:IDS:Tyr523Cys	PROT:P22304	IDS	Y	523	C	Y523C	Likely pathogenic	1	1	5	26
MUT:IDS:Tyr54Asp	PROT:P22304	IDS	Y	54	D	Y54D	Likely pathogenic	1	1	5	171
MUT:IDS:Val186Ala	PROT:P22304	IDS	V	186	A	V186A	Likely benign	0	1	5	39
MUT:IDS:Val223Asp	PROT:P22304	IDS	V	223	D	V223D	Likely pathogenic	1	1	5	2
MUT:IDS:Val223Ile	PROT:P22304	IDS	V	223	I	V223I	Benign/Likely benign	0	1	5	2
MUT:IDS:Val276Ile	PROT:P22304	IDS	V	276	I	V276I	Likely benign	0	1	5	42
MUT:IDS:Val276Leu	PROT:P22304	IDS	V	276	L	V276L	Likely benign	0	1	5	42
MUT:IDS:Val290Met	PROT:P22304	IDS	V	290	M	V290M	Benign	0	1	5	56
MUT:IDS:Val424Ile	PROT:P22304	IDS	V	424	I	V424I	Likely benign	0	2	5	15
MUT:IDS:Val503Asp	PROT:P22304	IDS	V	503	D	V503D	Pathogenic/Likely pathogenic	1	1	5	6
MUT:IDS:Val89Phe	PROT:P22304	IDS	V	89	F	V89F	Likely pathogenic	1	1	5	136
MUT:IFNGR1:Cys77Tyr	PROT:P15260	IFNGR1	C	77	Y	C77Y	Pathogenic	1	1	19	38
MUT:IFNGR1:Gly180Arg	PROT:P15260	IFNGR1	G	180	R	G180R	Benign/Likely benign	0	3	19	65
MUT:IFNGR1:His335Pro	PROT:P15260	IFNGR1	H	335	P	H335P	Benign/Likely benign	0	3	19	8
MUT:IFNGR1:Ile87Thr	PROT:P15260	IFNGR1	I	87	T	I87T	Pathogenic/Likely pathogenic	1	3	19	28
MUT:IFNGR1:Leu467Pro	PROT:P15260	IFNGR1	L	467	P	L467P	Benign	0	2	19	17
MUT:IFNGR1:Met1Lys	PROT:P15260	IFNGR1	M	1	K	M1K	Pathogenic	1	1	19	114
MUT:IFNGR1:Trp99Arg	PROT:P15260	IFNGR1	W	99	R	W99R	Likely pathogenic	1	1	19	16
MUT:IFNGR1:Val46Ile	PROT:P15260	IFNGR1	V	46	I	V46I	Likely benign	0	1	19	69
MUT:IFNGR1:Val61Glu	PROT:P15260	IFNGR1	V	61	E	V61E	Pathogenic	1	1	19	54
MUT:IFNGR1:Val61Ile	PROT:P15260	IFNGR1	V	61	I	V61I	Benign/Likely benign	0	3	19	54
MUT:IFRD1:Ile172Val	PROT:O00458	IFRD1	I	172	V	I172V	Likely benign	0	2	11	2
MUT:IFT27:Ala66Asp	PROT:Q9BW83	IFT27	A	66	D	A66D	Likely pathogenic	1	1	4	48
MUT:IFT27:Arg108Trp	PROT:Q9BW83	IFT27	R	108	W	R108W	Likely benign	0	2	4	16
MUT:IFT27:Cys100Tyr	PROT:Q9BW83	IFT27	C	100	Y	C100Y	Pathogenic	1	2	4	24
MUT:IFT27:Gly129Ser	PROT:Q9BW83	IFT27	G	129	S	G129S	Likely benign	0	1	4	5
MUT:IFT27:Tyr36Cys	PROT:Q9BW83	IFT27	Y	36	C	Y36C	Pathogenic	1	2	4	18
MUT:IFT43:Arg128Gln	PROT:Q96FT9	IFT43	R	128	Q	R128Q	Likely benign	0	2	4	52
MUT:IFT43:Arg85Cys	PROT:Q96FT9	IFT43	R	85	C	R85C	Likely benign	0	1	4	9
MUT:IFT43:Arg85His	PROT:Q96FT9	IFT43	R	85	H	R85H	Benign	0	1	4	9
MUT:IFT43:Leu91Val	PROT:Q96FT9	IFT43	L	91	V	L91V	Likely benign	0	1	4	15
MUT:IFT43:Met1Lys	PROT:Q96FT9	IFT43	M	1	K	M1K	Pathogenic	1	2	4	42
MUT:IFT43:Met1Val	PROT:Q96FT9	IFT43	M	1	V	M1V	Pathogenic	1	1	4	42
MUT:IFT43:Trp174Arg	PROT:Q96FT9	IFT43	W	174	R	W174R	Likely pathogenic	1	2	4	98
MUT:IFT56:Asn263Ser	PROT:A0AVF1	IFT56	N	263	S	N263S	Likely pathogenic	1	2	4	20
MUT:IFT56:Asp310Asn	PROT:A0AVF1	IFT56	D	310	N	D310N	Likely benign	0	1	4	67
MUT:IFT56:Pro444Leu	PROT:A0AVF1	IFT56	P	444	L	P444L	Pathogenic	1	1	4	56
MUT:IFT57:Ala3Thr	PROT:Q9NWB7	IFT57	A	3	T	A3T	Benign	0	1	2	302
MUT:IFT57:Asn411Ser	PROT:Q9NWB7	IFT57	N	411	S	N411S	Benign	0	1	2	27
MUT:IFT57:Gly12Ala	PROT:Q9NWB7	IFT57	G	12	A	G12A	Likely benign	0	1	2	293
MUT:IFT74:Asn426Asp	PROT:Q96LB3	IFT74	N	426	D	N426D	Likely benign	0	1	5	146
MUT:IFT74:Gln179Glu	PROT:Q96LB3	IFT74	Q	179	E	Q179E	Pathogenic/Likely pathogenic	1	3	5	24
MUT:IFT74:Glu243Gln	PROT:Q96LB3	IFT74	E	243	Q	E243Q	Benign	0	1	5	40
MUT:IFT74:Gly352Cys	PROT:Q96LB3	IFT74	G	352	C	G352C	Likely pathogenic	1	1	5	149
MUT:IFT74:Gly58Asp	PROT:Q96LB3	IFT74	G	58	D	G58D	Likely benign	0	1	5	8
MUT:IFT74:Gly86Ser	PROT:Q96LB3	IFT74	G	86	S	G86S	Pathogenic	1	2	5	5
MUT:IFT74:His551Tyr	PROT:Q96LB3	IFT74	H	551	Y	H551Y	Likely benign	0	1	5	21
MUT:IFT74:Ile55Met	PROT:Q96LB3	IFT74	I	55	M	I55M	Benign	0	2	5	5
MUT:IFT74:Lys85Arg	PROT:Q96LB3	IFT74	K	85	R	K85R	Benign	0	2	5	4
MUT:IFT74:Pro488Leu	PROT:Q96LB3	IFT74	P	488	L	P488L	Likely benign	0	1	5	84
MUT:IFT74:Thr597Ile	PROT:Q96LB3	IFT74	T	597	I	T597I	Benign	0	3	5	25
MUT:IFT80:Ala622Thr	PROT:Q9P2H3	IFT80	A	622	T	A622T	Benign/Likely benign	0	2	2	138
MUT:IFT80:Gly241Arg	PROT:Q9P2H3	IFT80	G	241	R	G241R	Pathogenic	1	5	2	232
MUT:IFT80:Gly683Val	PROT:Q9P2H3	IFT80	G	683	V	G683V	Likely pathogenic	1	1	2	199
MUT:IFT80:His105Gln	PROT:Q9P2H3	IFT80	H	105	Q	H105Q	Pathogenic	1	1	2	96
MUT:IFT80:Ile191Asn	PROT:Q9P2H3	IFT80	I	191	N	I191N	Pathogenic/Likely pathogenic	1	1	2	182
MUT:IFT80:Ile585Thr	PROT:Q9P2H3	IFT80	I	585	T	I585T	Likely benign	0	1	2	101
MUT:IFT80:Leu521Phe	PROT:Q9P2H3	IFT80	L	521	F	L521F	Pathogenic/Likely pathogenic	1	1	2	37
MUT:IFT80:Met1Val	PROT:Q9P2H3	IFT80	M	1	V	M1V	Likely pathogenic	1	1	2	8
MUT:IFT80:Ser359Phe	PROT:Q9P2H3	IFT80	S	359	F	S359F	Benign	0	3	2	125
MUT:IFT80:Thr313Ala	PROT:Q9P2H3	IFT80	T	313	A	T313A	Benign/Likely benign	0	2	2	171
MUT:IFT80:Thr586Ser	PROT:Q9P2H3	IFT80	T	586	S	T586S	Benign	0	2	2	102
MUT:IFT80:Tyr738Phe	PROT:Q9P2H3	IFT80	Y	738	F	Y738F	Likely benign	0	1	2	254
MUT:IFT80:Val294Ile	PROT:Q9P2H3	IFT80	V	294	I	V294I	Likely benign	0	3	2	190
MUT:IGDCC4:Thr927Ile	PROT:Q8TDY8	IGDCC4	T	927	I	T927I	Likely benign	0	1	1	59
MUT:IGF1R:Arg138Gln	PROT:P08069	IGF1R	R	138	Q	R138Q	Likely pathogenic	1	1	24	7
MUT:IGF1R:Arg40Cys	PROT:P08069	IGF1R	R	40	C	R40C	Likely pathogenic	1	1	24	91
MUT:IGF1R:Arg437His	PROT:P08069	IGF1R	R	437	H	R437H	Benign/Likely benign	0	2	24	31
MUT:IGF1R:Arg650Gln	PROT:P08069	IGF1R	R	650	Q	R650Q	Benign/Likely benign	0	2	24	22
MUT:IGF1R:Asn857Ser	PROT:P08069	IGF1R	N	857	S	N857S	Benign/Likely benign	0	1	24	116
MUT:IGF1R:Cys332Tyr	PROT:P08069	IGF1R	C	332	Y	C332Y	Likely pathogenic	1	1	24	136
MUT:IGF1R:Glu121Lys	PROT:P08069	IGF1R	E	121	K	E121K	Likely pathogenic	1	1	24	10
MUT:IGF1R:Glu83Lys	PROT:P08069	IGF1R	E	83	K	E83K	Likely pathogenic	1	1	24	48
MUT:IGF1R:Gly1152Arg	PROT:P08069	IGF1R	G	1152	R	G1152R	Pathogenic/Likely pathogenic	1	1	24	9
MUT:IGF1R:Gly1155Ala	PROT:P08069	IGF1R	G	1155	A	G1155A	Pathogenic	1	1	24	6
MUT:IGF1R:Gly1155Asp	PROT:P08069	IGF1R	G	1155	D	G1155D	Likely pathogenic	1	1	24	6
MUT:IGF1R:Ile1205Asn	PROT:P08069	IGF1R	I	1205	N	I1205N	Likely pathogenic	1	1	24	34
MUT:IGF1R:Met1054Ile	PROT:P08069	IGF1R	M	1054	I	M1054I	Likely pathogenic	1	1	24	45
MUT:IGF1R:Met1Lys	PROT:P08069	IGF1R	M	1	K	M1K	Likely pathogenic	1	1	24	130
MUT:IGF1R:Pro1212Thr	PROT:P08069	IGF1R	P	1212	T	P1212T	Likely pathogenic	1	1	24	41
MUT:IGF1R:Pro853Leu	PROT:P08069	IGF1R	P	853	L	P853L	Likely benign	0	1	24	120
MUT:IGF1R:Ser1180Tyr	PROT:P08069	IGF1R	S	1180	Y	S1180Y	Likely pathogenic	1	1	24	9
MUT:IGF1R:Ser621Leu	PROT:P08069	IGF1R	S	621	L	S621L	Likely pathogenic	1	1	24	51
MUT:IGF1R:Tyr113Cys	PROT:P08069	IGF1R	Y	113	C	Y113C	Likely pathogenic	1	1	24	18
MUT:IGF1R:Tyr644Cys	PROT:P08069	IGF1R	Y	644	C	Y644C	Pathogenic	1	1	24	28
MUT:IGF1R:Val388Met	PROT:P08069	IGF1R	V	388	M	V388M	Benign	0	1	24	80
MUT:IGF1R:Val944Ile	PROT:P08069	IGF1R	V	944	I	V944I	Likely benign	0	1	24	29
MUT:IGF2R:Asn1126Ser	PROT:P11717	IGF2R	N	1126	S	N1126S	Likely benign	0	5	26	15
MUT:IGF2R:Gly1449Val	PROT:P11717	IGF2R	G	1449	V	G1449V	Pathogenic	1	1	26	148
MUT:IGF2R:Gly1464Glu	PROT:P11717	IGF2R	G	1464	E	G1464E	Pathogenic	1	1	26	137
MUT:IGF2R:His151Tyr	PROT:P11717	IGF2R	H	151	Y	H151Y	Likely pathogenic	1	1	26	62
MUT:IGFALS:Ala183Val	PROT:P35858	IGFALS	A	183	V	A183V	Likely benign	0	1	4	65
MUT:IGFALS:Ala44Thr	PROT:P35858	IGFALS	A	44	T	A44T	Likely benign	0	1	4	204
MUT:IGFALS:Ala53Thr	PROT:P35858	IGFALS	A	53	T	A53T	Likely benign	0	1	4	195
MUT:IGFALS:Arg293His	PROT:P35858	IGFALS	R	293	H	R293H	Likely benign	0	1	4	11
MUT:IGFALS:Arg383Gln	PROT:P35858	IGFALS	R	383	Q	R383Q	Likely benign	0	1	4	79
MUT:IGFALS:Arg467His	PROT:P35858	IGFALS	R	467	H	R467H	Likely benign	0	1	4	45
MUT:IGFALS:Arg509His	PROT:P35858	IGFALS	R	509	H	R509H	Likely benign	0	1	4	3
MUT:IGFALS:Arg548Trp	PROT:P35858	IGFALS	R	548	W	R548W	Benign/Likely benign	0	2	4	31
MUT:IGFALS:Asn276Ser	PROT:P35858	IGFALS	N	276	S	N276S	Likely pathogenic	1	1	4	28
MUT:IGFALS:Asp51Glu	PROT:P35858	IGFALS	D	51	E	D51E	Likely benign	0	1	4	197
MUT:IGFALS:Cys540Arg	PROT:P35858	IGFALS	C	540	R	C540R	Pathogenic	1	1	4	23
MUT:IGFALS:Glu198Val	PROT:P35858	IGFALS	E	198	V	E198V	Benign/Likely benign	0	1	4	50
MUT:IGFALS:Glu472Ala	PROT:P35858	IGFALS	E	472	A	E472A	Likely benign	0	1	4	40
MUT:IGFALS:Gly152Ser	PROT:P35858	IGFALS	G	152	S	G152S	Likely benign	0	1	4	96
MUT:IGFALS:Gly424Ala	PROT:P35858	IGFALS	G	424	A	G424A	Likely benign	0	1	4	88
MUT:IGFALS:Leu97Phe	PROT:P35858	IGFALS	L	97	F	L97F	Benign	0	2	4	151
MUT:IGFALS:Met1Lys	PROT:P35858	IGFALS	M	1	K	M1K	Likely pathogenic	1	1	4	247
MUT:IGFALS:Pro307Leu	PROT:P35858	IGFALS	P	307	L	P307L	Likely benign	0	2	4	3
MUT:IGFALS:Val89Ile	PROT:P35858	IGFALS	V	89	I	V89I	Likely benign	0	1	4	159
MUT:IGSF10:Arg1009His	PROT:Q6WRI0	IGSF10	R	1009	H	R1009H	Likely benign	0	1	12	276
MUT:IGSF10:Arg1035Thr	PROT:Q6WRI0	IGSF10	R	1035	T	R1035T	Likely benign	0	1	12	250
MUT:IGSF10:Arg118Gln	PROT:Q6WRI0	IGSF10	R	118	Q	R118Q	Likely benign	0	1	12	6
MUT:IGSF10:Arg722Gln	PROT:Q6WRI0	IGSF10	R	722	Q	R722Q	Benign	0	1	12	206
MUT:IGSF10:Asn2082Ser	PROT:Q6WRI0	IGSF10	N	2082	S	N2082S	Likely benign	0	1	12	56
MUT:IGSF10:Asp1802Val	PROT:Q6WRI0	IGSF10	D	1802	V	D1802V	Likely benign	0	1	12	115
MUT:IGSF10:Asp2614Asn	PROT:Q6WRI0	IGSF10	D	2614	N	D2614N	Benign/Likely benign	0	1	12	476
MUT:IGSF10:Asp682Gly	PROT:Q6WRI0	IGSF10	D	682	G	D682G	Likely benign	0	1	12	166
MUT:IGSF10:Asp795Asn	PROT:Q6WRI0	IGSF10	D	795	N	D795N	Benign	0	1	12	279
MUT:IGSF10:Gln667Lys	PROT:Q6WRI0	IGSF10	Q	667	K	Q667K	Benign	0	1	12	151
MUT:IGSF10:Gln727Arg	PROT:Q6WRI0	IGSF10	Q	727	R	Q727R	Likely benign	0	1	12	211
MUT:IGSF10:Gln888Pro	PROT:Q6WRI0	IGSF10	Q	888	P	Q888P	Benign	0	1	12	372
MUT:IGSF10:Glu161Lys	PROT:Q6WRI0	IGSF10	E	161	K	E161K	Benign/Likely benign	0	1	12	35
MUT:IGSF10:Glu574Lys	PROT:Q6WRI0	IGSF10	E	574	K	E574K	Benign	0	1	12	58
MUT:IGSF10:Glu960Gln	PROT:Q6WRI0	IGSF10	E	960	Q	E960Q	Benign	0	1	12	325
MUT:IGSF10:Gly709Val	PROT:Q6WRI0	IGSF10	G	709	V	G709V	Likely benign	0	1	12	193
MUT:IGSF10:His2579Tyr	PROT:Q6WRI0	IGSF10	H	2579	Y	H2579Y	Benign	0	1	12	441
MUT:IGSF10:Ile1311Val	PROT:Q6WRI0	IGSF10	I	1311	V	I1311V	Benign	0	1	12	26
MUT:IGSF10:Ile2153Val	PROT:Q6WRI0	IGSF10	I	2153	V	I2153V	Likely benign	0	1	12	15
MUT:IGSF10:Ile2523Thr	PROT:Q6WRI0	IGSF10	I	2523	T	I2523T	Benign/Likely benign	0	1	12	385
MUT:IGSF10:Ile458Val	PROT:Q6WRI0	IGSF10	I	458	V	I458V	Benign	0	1	12	13
MUT:IGSF10:Met664Thr	PROT:Q6WRI0	IGSF10	M	664	T	M664T	Benign	0	1	12	148
MUT:IGSF10:Pro461Leu	PROT:Q6WRI0	IGSF10	P	461	L	P461L	Benign	0	1	12	10
MUT:IGSF10:Pro571Ser	PROT:Q6WRI0	IGSF10	P	571	S	P571S	Benign	0	1	12	55
MUT:IGSF10:Ser1199Ala	PROT:Q6WRI0	IGSF10	S	1199	A	S1199A	Benign	0	6	12	86
MUT:IGSF10:Ser292Asn	PROT:Q6WRI0	IGSF10	S	292	N	S292N	Likely benign	0	1	12	166
MUT:IGSF10:Thr1238Ala	PROT:Q6WRI0	IGSF10	T	1238	A	T1238A	Benign/Likely benign	0	1	12	47
MUT:IGSF10:Thr124Ile	PROT:Q6WRI0	IGSF10	T	124	I	T124I	Benign	0	1	12	0
MUT:IGSF10:Thr1266Ser	PROT:Q6WRI0	IGSF10	T	1266	S	T1266S	Likely benign	0	1	12	19
MUT:IGSF10:Thr1370Ile	PROT:Q6WRI0	IGSF10	T	1370	I	T1370I	Benign	0	1	12	85
MUT:IGSF10:Thr951Lys	PROT:Q6WRI0	IGSF10	T	951	K	T951K	Benign/Likely benign	0	1	12	334
MUT:IGSF10:Thr981Met	PROT:Q6WRI0	IGSF10	T	981	M	T981M	Likely benign	0	1	12	304
MUT:IGSF10:Tyr150Asp	PROT:Q6WRI0	IGSF10	Y	150	D	Y150D	Benign	0	1	12	24
MUT:IGSF10:Tyr1875His	PROT:Q6WRI0	IGSF10	Y	1875	H	Y1875H	Benign	0	1	12	58
MUT:IGSF10:Val1522Ile	PROT:Q6WRI0	IGSF10	V	1522	I	V1522I	Benign	0	1	12	71
MUT:IHH:Ala150Thr	PROT:Q14623	IHH	A	150	T	A150T	Likely pathogenic	1	1	3	143
MUT:IHH:Arg128Gln	PROT:Q14623	IHH	R	128	Q	R128Q	Likely pathogenic	1	1	3	165
MUT:IHH:Arg160Cys	PROT:Q14623	IHH	R	160	C	R160C	Pathogenic	1	2	3	133
MUT:IHH:Arg160Ser	PROT:Q14623	IHH	R	160	S	R160S	Likely pathogenic	1	1	3	133
MUT:IHH:Arg393His	PROT:Q14623	IHH	R	393	H	R393H	Likely benign	0	1	3	90
MUT:IHH:Asp100Asn	PROT:Q14623	IHH	D	100	N	D100N	Pathogenic	1	2	3	193
MUT:IHH:Asp100Glu	PROT:Q14623	IHH	D	100	E	D100E	Pathogenic	1	1	3	193
MUT:IHH:Gln51Lys	PROT:Q14623	IHH	Q	51	K	Q51K	Likely pathogenic	1	2	3	242
MUT:IHH:Glu131Lys	PROT:Q14623	IHH	E	131	K	E131K	Likely pathogenic	1	1	3	162
MUT:IHH:Glu58Lys	PROT:Q14623	IHH	E	58	K	E58K	Pathogenic	1	1	3	235
MUT:IHH:Glu95Gly	PROT:Q14623	IHH	E	95	G	E95G	Pathogenic	1	1	3	198
MUT:IHH:Glu95Lys	PROT:Q14623	IHH	E	95	K	E95K	Pathogenic	1	1	3	198
MUT:IHH:Gly148Asp	PROT:Q14623	IHH	G	148	D	G148D	Likely pathogenic	1	1	3	145
MUT:IHH:His252Arg	PROT:Q14623	IHH	H	252	R	H252R	Benign/Likely benign	0	1	3	41
MUT:IHH:Lys162Glu	PROT:Q14623	IHH	K	162	E	K162E	Likely pathogenic	1	1	3	131
MUT:IHH:Lys162Thr	PROT:Q14623	IHH	K	162	T	K162T	Likely pathogenic	1	1	3	131
MUT:IHH:Met1Lys	PROT:Q14623	IHH	M	1	K	M1K	Pathogenic	1	1	3	292
MUT:IHH:Met1Val	PROT:Q14623	IHH	M	1	V	M1V	Likely pathogenic	1	2	3	292
MUT:IHH:Pro46Leu	PROT:Q14623	IHH	P	46	L	P46L	Pathogenic	1	1	3	247
MUT:IHH:Thr130Asn	PROT:Q14623	IHH	T	130	N	T130N	Pathogenic	1	1	3	163
MUT:IHH:Thr154Ile	PROT:Q14623	IHH	T	154	I	T154I	Pathogenic	1	1	3	139
MUT:IHH:Val118Met	PROT:Q14623	IHH	V	118	M	V118M	Likely pathogenic	1	1	3	175
MUT:IHH:Val178Leu	PROT:Q14623	IHH	V	178	L	V178L	Pathogenic	1	1	3	115
MUT:IHH:Val190Ala	PROT:Q14623	IHH	V	190	A	V190A	Pathogenic	1	1	3	103
MUT:IHH:Val340Met	PROT:Q14623	IHH	V	340	M	V340M	Likely pathogenic	1	1	3	37
MUT:IKBKB:Ala710Thr	PROT:O14920	IKBKB	A	710	T	A710T	Benign	0	2	76	5
MUT:IKBKB:Ala736Thr	PROT:O14920	IKBKB	A	736	T	A736T	Benign	0	1	76	1
MUT:IKBKB:Ala755Ser	PROT:O14920	IKBKB	A	755	S	A755S	Likely benign	0	1	76	1
MUT:IKBKB:Arg526Gln	PROT:O14920	IKBKB	R	526	Q	R526Q	Benign	0	3	76	17
MUT:IKBKB:Arg536Trp	PROT:O14920	IKBKB	R	536	W	R536W	Benign	0	1	76	14
MUT:IKBKB:Asp738Asn	PROT:O14920	IKBKB	D	738	N	D738N	Likely benign	0	1	76	2
MUT:IKBKB:Glu529Lys	PROT:O14920	IKBKB	E	529	K	E529K	Likely benign	0	1	76	20
MUT:IKBKB:Gly557Arg	PROT:O14920	IKBKB	G	557	R	G557R	Likely benign	0	1	76	2
MUT:IKBKB:Ile314Thr	PROT:O14920	IKBKB	I	314	T	I314T	Likely benign	0	1	76	10
MUT:IKBKB:Met676Ile	PROT:O14920	IKBKB	M	676	I	M676I	Benign/Likely benign	0	1	76	1
MUT:IKBKB:Phe734Leu	PROT:O14920	IKBKB	F	734	L	F734L	Likely benign	0	1	76	1
MUT:IKBKB:Thr735Met	PROT:O14920	IKBKB	T	735	M	T735M	Likely benign	0	1	76	0
MUT:IKBKB:Val203Ile	PROT:O14920	IKBKB	V	203	I	V203I	Pathogenic	1	2	76	4
MUT:IKZF3:Gly159Arg	PROT:Q9UKT9	IKZF3	G	159	R	G159R	Pathogenic	1	1	17	1
MUT:IL10RB:Ala44Val	PROT:Q08334	IL10RB	A	44	V	A44V	Benign/Likely benign	0	2	7	208
MUT:IL10RB:Arg130Cys	PROT:Q08334	IL10RB	R	130	C	R130C	Likely benign	0	1	7	122
MUT:IL10RB:Glu25Lys	PROT:Q08334	IL10RB	E	25	K	E25K	Likely benign	0	2	7	227
MUT:IL10RB:Lys47Glu	PROT:Q08334	IL10RB	K	47	E	K47E	Benign	0	2	7	205
MUT:IL12B:Arg288Thr	PROT:P29460	IL12B	R	288	T	R288T	Benign/Likely benign	0	1	3	119
MUT:IL12B:Gly182Arg	PROT:P29460	IL12B	G	182	R	G182R	Likely benign	0	1	3	13
MUT:IL12B:Pro326Ser	PROT:P29460	IL12B	P	326	S	P326S	Likely benign	0	1	3	157
MUT:IL12B:Ser226Asn	PROT:P29460	IL12B	S	226	N	S226N	Benign	0	2	3	57
MUT:IL12B:Val298Phe	PROT:P29460	IL12B	V	298	F	V298F	Benign	0	1	3	129
MUT:IL12B:Val33Ile	PROT:P29460	IL12B	V	33	I	V33I	Benign	0	1	3	129
MUT:IL12RB2:Ala396Val	PROT:Q99665	IL12RB2	A	396	V	A396V	Benign	0	1	2	353
MUT:IL12RB2:Ala625Val	PROT:Q99665	IL12RB2	A	625	V	A625V	Benign	0	2	2	124
MUT:IL12RB2:Arg149Gln	PROT:Q99665	IL12RB2	R	149	Q	R149Q	Benign	0	1	2	600
MUT:IL12RB2:Cys178Ser	PROT:Q99665	IL12RB2	C	178	S	C178S	Likely benign	0	1	2	571
MUT:IL12RB2:Cys723Ser	PROT:Q99665	IL12RB2	C	723	S	C723S	Benign/Likely benign	0	5	2	26
MUT:IL12RB2:Gln426His	PROT:Q99665	IL12RB2	Q	426	H	Q426H	Benign	0	1	2	323
MUT:IL12RB2:Gly420Arg	PROT:Q99665	IL12RB2	G	420	R	G420R	Benign	0	2	2	329
MUT:IL12RB2:Gly465Asp	PROT:Q99665	IL12RB2	G	465	D	G465D	Benign	0	1	2	284
MUT:IL12RB2:Ile185Val	PROT:Q99665	IL12RB2	I	185	V	I185V	Benign	0	1	2	564
MUT:IL12RB2:Lys649Asn	PROT:Q99665	IL12RB2	K	649	N	K649N	Likely benign	0	2	2	100
MUT:IL12RB2:Met13Val	PROT:Q99665	IL12RB2	M	13	V	M13V	Benign	0	1	2	736
MUT:IL12RB2:Met373Val	PROT:Q99665	IL12RB2	M	373	V	M373V	Likely benign	0	1	2	376
MUT:IL17RA:Ala367Val	PROT:Q96F46	IL17RA	A	367	V	A367V	Benign	0	1	10	7
MUT:IL17RA:Ala691Thr	PROT:Q96F46	IL17RA	A	691	T	A691T	Benign	0	1	10	17
MUT:IL17RA:Arg278His	PROT:Q96F46	IL17RA	R	278	H	R278H	Benign	0	2	10	82
MUT:IL17RA:Asp387Asn	PROT:Q96F46	IL17RA	D	387	N	D387N	Pathogenic	1	1	10	27
MUT:IL17RA:Asp583His	PROT:Q96F46	IL17RA	D	583	H	D583H	Benign	0	1	10	29
MUT:IL17RA:Glu607Lys	PROT:Q96F46	IL17RA	E	607	K	E607K	Benign	0	1	10	22
MUT:IL17RA:Gly430Ala	PROT:Q96F46	IL17RA	G	430	A	G430A	Likely benign	0	1	10	70
MUT:IL17RA:His297Tyr	PROT:Q96F46	IL17RA	H	297	Y	H297Y	Benign	0	1	10	63
MUT:IL17RA:His471Arg	PROT:Q96F46	IL17RA	H	471	R	H471R	Likely benign	0	2	10	83
MUT:IL17RA:Ile797Val	PROT:Q96F46	IL17RA	I	797	V	I797V	Benign	0	1	10	1
MUT:IL17RA:Leu633Val	PROT:Q96F46	IL17RA	L	633	V	L633V	Likely benign	0	1	10	4
MUT:IL17RA:Leu755Pro	PROT:Q96F46	IL17RA	L	755	P	L755P	Likely benign	0	1	10	25
MUT:IL17RA:Pro562Gln	PROT:Q96F46	IL17RA	P	562	Q	P562Q	Benign	0	1	10	8
MUT:IL17RA:Pro7Leu	PROT:Q96F46	IL17RA	P	7	L	P7L	Likely benign	0	2	10	353
MUT:IL17RA:Trp98Arg	PROT:Q96F46	IL17RA	W	98	R	W98R	Likely pathogenic	1	1	10	262
MUT:IL17RA:Val219Leu	PROT:Q96F46	IL17RA	V	219	L	V219L	Likely benign	0	1	10	141
MUT:IL17RB:Gly177Arg	PROT:Q9NRM6	IL17RB	G	177	R	G177R	Likely benign	0	7	1	270
MUT:IL17RC:Ala318Thr	PROT:Q8NAC3	IL17RC	A	318	T	A318T	Benign	0	1	1	454
MUT:IL17RC:Ala324Thr	PROT:Q8NAC3	IL17RC	A	324	T	A324T	Benign	0	1	1	448
MUT:IL17RC:Ala326Val	PROT:Q8NAC3	IL17RC	A	326	V	A326V	Benign/Likely benign	0	2	1	446
MUT:IL17RC:Arg331Gln	PROT:Q8NAC3	IL17RC	R	331	Q	R331Q	Likely benign	0	1	1	441
MUT:IL17RC:Arg40His	PROT:Q8NAC3	IL17RC	R	40	H	R40H	Benign	0	2	1	732
MUT:IL17RC:Arg624Gln	PROT:Q8NAC3	IL17RC	R	624	Q	R624Q	Likely benign	0	1	1	148
MUT:IL17RC:Gln258His	PROT:Q8NAC3	IL17RC	Q	258	H	Q258H	Benign	0	1	1	514
MUT:IL17RC:Gln307Arg	PROT:Q8NAC3	IL17RC	Q	307	R	Q307R	Benign/Likely benign	0	1	1	465
MUT:IL17RC:Leu554Val	PROT:Q8NAC3	IL17RC	L	554	V	L554V	Benign	0	1	1	218
MUT:IL17RC:Leu70Val	PROT:Q8NAC3	IL17RC	L	70	V	L70V	Likely benign	0	4	1	702
MUT:IL17RC:Pro333Leu	PROT:Q8NAC3	IL17RC	P	333	L	P333L	Likely benign	0	1	1	439
MUT:IL17RC:Pro337Leu	PROT:Q8NAC3	IL17RC	P	337	L	P337L	Benign	0	1	1	435
MUT:IL17RC:Ser111Leu	PROT:Q8NAC3	IL17RC	S	111	L	S111L	Benign	0	1	1	661
MUT:IL17RC:Ser590Gly	PROT:Q8NAC3	IL17RC	S	590	G	S590G	Likely benign	0	1	1	182
MUT:IL17RC:Val149Leu	PROT:Q8NAC3	IL17RC	V	149	L	V149L	Likely benign	0	1	1	623
MUT:IL17RC:Val214Met	PROT:Q8NAC3	IL17RC	V	214	M	V214M	Benign	0	3	1	558
MUT:IL17RC:Val283Ile	PROT:Q8NAC3	IL17RC	V	283	I	V283I	Likely benign	0	1	1	489
MUT:IL17RC:Val54Ala	PROT:Q8NAC3	IL17RC	V	54	A	V54A	Likely benign	0	2	1	718
MUT:IL4R:Ala367Asp	PROT:P24394	IL4R	A	367	D	A367D	Likely benign	0	1	8	20
MUT:IL4R:Ala492Val	PROT:P24394	IL4R	A	492	V	A492V	Likely benign	0	1	8	22
MUT:IL4R:Ala82Thr	PROT:P24394	IL4R	A	82	T	A82T	Benign	0	1	8	110
MUT:IL4R:Arg271His	PROT:P24394	IL4R	R	271	H	R271H	Benign	0	1	8	79
MUT:IL4R:Cys431Arg	PROT:P24394	IL4R	C	431	R	C431R	Benign	0	1	8	39
MUT:IL4R:Gln576Arg	PROT:P24394	IL4R	Q	576	R	Q576R	Benign	0	1	8	1
MUT:IL4R:Glu400Ala	PROT:P24394	IL4R	E	400	A	E400A	Benign	0	1	8	13
MUT:IL6:Pro31Thr	PROT:P05231	IL6	P	31	T	P31T	Benign	0	1	1	50
MUT:IL6R:Asp358Ala	PROT:P08887	IL6R	D	358	A	D358A	Benign/Likely benign	0	3	2	97
MUT:IL6R:Leu379Phe	PROT:P08887	IL6R	L	379	F	L379F	Likely benign	0	1	2	76
MUT:IL7R:Ala260Thr	PROT:P16871	IL7R	A	260	T	A260T	Likely benign	0	1	7	37
MUT:IL7R:Arg170His	PROT:P16871	IL7R	R	170	H	R170H	Likely benign	0	1	7	1
MUT:IL7R:Asn348Thr	PROT:P16871	IL7R	N	348	T	N348T	Benign	0	1	7	2
MUT:IL7R:Asp364Glu	PROT:P16871	IL7R	D	364	E	D364E	Benign	0	1	7	1
MUT:IL7R:Cys118Tyr	PROT:P16871	IL7R	C	118	Y	C118Y	Pathogenic	1	2	7	41
MUT:IL7R:Cys42Trp	PROT:P16871	IL7R	C	42	W	C42W	Pathogenic	1	1	7	117
MUT:IL7R:Glu113Asp	PROT:P16871	IL7R	E	113	D	E113D	Likely benign	0	1	7	46
MUT:IL7R:Glu95Lys	PROT:P16871	IL7R	E	95	K	E95K	Benign	0	1	7	64
MUT:IL7R:Gly215Val	PROT:P16871	IL7R	G	215	V	G215V	Likely pathogenic	1	2	7	46
MUT:IL7R:Ile356Val	PROT:P16871	IL7R	I	356	V	I356V	Benign	0	1	7	9
MUT:IL7R:Ile66Thr	PROT:P16871	IL7R	I	66	T	I66T	Benign	0	1	7	93
MUT:IL7R:Met1Arg	PROT:P16871	IL7R	M	1	R	M1R	Likely pathogenic	1	2	7	158
MUT:IL7R:Pro132Ser	PROT:P16871	IL7R	P	132	S	P132S	Likely pathogenic	1	1	7	27
MUT:IL7R:Ser105Asn	PROT:P16871	IL7R	S	105	N	S105N	Likely benign	0	1	7	54
MUT:IL7R:Ser221Ile	PROT:P16871	IL7R	S	221	I	S221I	Pathogenic	1	2	7	52
MUT:IL7R:Ser51Leu	PROT:P16871	IL7R	S	51	L	S51L	Likely benign	0	1	7	108
MUT:IL7R:Thr244Ile	PROT:P16871	IL7R	T	244	I	T244I	Benign	0	1	7	53
MUT:IL7R:Thr411Ala	PROT:P16871	IL7R	T	411	A	T411A	Likely benign	0	2	7	36
MUT:IL7R:Thr414Met	PROT:P16871	IL7R	T	414	M	T414M	Benign	0	1	7	35
MUT:IL7R:Tyr201Cys	PROT:P16871	IL7R	Y	201	C	Y201C	Likely benign	0	1	7	32
MUT:IL7R:Val127Ile	PROT:P16871	IL7R	V	127	I	V127I	Pathogenic	1	1	7	32
MUT:IL7R:Val138Ile	PROT:P16871	IL7R	V	138	I	V138I	Benign	0	1	7	21
MUT:IL7R:Val148Leu	PROT:P16871	IL7R	V	148	L	V148L	Likely benign	0	1	7	11
MUT:IL7R:Val80Ala	PROT:P16871	IL7R	V	80	A	V80A	Benign	0	1	7	79
MUT:ILDR1:Ala282Thr	PROT:Q86SU0	ILDR1	A	282	T	A282T	Likely benign	0	1	6	129
MUT:ILDR1:Gly141Arg	PROT:Q86SU0	ILDR1	G	141	R	G141R	Pathogenic/Likely pathogenic	1	1	6	270
MUT:ILDR1:His465Pro	PROT:Q86SU0	ILDR1	H	465	P	H465P	Likely benign	0	1	6	2
MUT:ILDR1:Met1Ile	PROT:Q86SU0	ILDR1	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	6	410
MUT:ILDR1:Pro264Arg	PROT:Q86SU0	ILDR1	P	264	R	P264R	Benign	0	1	6	147
MUT:ILDR1:Ser435Arg	PROT:Q86SU0	ILDR1	S	435	R	S435R	Benign/Likely benign	0	1	6	24
MUT:ILDR1:Trp388Arg	PROT:Q86SU0	ILDR1	W	388	R	W388R	Benign	0	1	6	23
MUT:IMPA1:Ile109Val	PROT:P29218	IMPA1	I	109	V	I109V	Benign	0	20	9	28
MUT:IMPG1:Ala319Val	PROT:Q17R60	IMPG1	A	319	V	A319V	Benign	0	1	7	1
MUT:IMPG1:Arg704Trp	PROT:Q17R60	IMPG1	R	704	W	R704W	Benign	0	1	7	72
MUT:IMPG1:Arg711His	PROT:Q17R60	IMPG1	R	711	H	R711H	Benign	0	2	7	79
MUT:IMPG1:Asn191Ser	PROT:Q17R60	IMPG1	N	191	S	N191S	Benign/Likely benign	0	1	7	22
MUT:IMPG1:Asp216Asn	PROT:Q17R60	IMPG1	D	216	N	D216N	Likely benign	0	1	7	1
MUT:IMPG1:Asp390Gly	PROT:Q17R60	IMPG1	D	390	G	D390G	Likely benign	0	1	7	70
MUT:IMPG1:Asp793Asn	PROT:Q17R60	IMPG1	D	793	N	D793N	Benign	0	1	7	161
MUT:IMPG1:Glu709Gly	PROT:Q17R60	IMPG1	E	709	G	E709G	Likely benign	0	1	7	77
MUT:IMPG1:Gly424Glu	PROT:Q17R60	IMPG1	G	424	E	G424E	Benign	0	1	7	104
MUT:IMPG1:His518Asp	PROT:Q17R60	IMPG1	H	518	D	H518D	Benign	0	3	7	114
MUT:IMPG1:Leu238Arg	PROT:Q17R60	IMPG1	L	238	R	L238R	Pathogenic	1	1	7	21
MUT:IMPG1:Leu536Ile	PROT:Q17R60	IMPG1	L	536	I	L536I	Likely benign	0	1	7	96
MUT:IMPG1:Lys569Arg	PROT:Q17R60	IMPG1	K	569	R	K569R	Benign	0	4	7	63
MUT:IMPG1:Ser320Arg	PROT:Q17R60	IMPG1	S	320	R	S320R	Likely pathogenic	1	1	7	0
MUT:IMPG1:Ser674Arg	PROT:Q17R60	IMPG1	S	674	R	S674R	Benign	0	1	7	42
MUT:IMPG1:Ser761Asn	PROT:Q17R60	IMPG1	S	761	N	S761N	Benign	0	1	7	129
MUT:IMPG1:Thr217Ile	PROT:Q17R60	IMPG1	T	217	I	T217I	Benign	0	2	7	0
MUT:IMPG1:Val240Ile	PROT:Q17R60	IMPG1	V	240	I	V240I	Benign	0	1	7	23
MUT:INCENP:Ala137Val	PROT:Q9NQS7	INCENP	A	137	V	A137V	Benign	0	8	64	2
MUT:INCENP:Ala627Val	PROT:Q9NQS7	INCENP	A	627	V	A627V	Benign	0	2	64	18
MUT:INCENP:Arg278Gln	PROT:Q9NQS7	INCENP	R	278	Q	R278Q	Likely benign	0	3	64	3
MUT:INCENP:Gln805His	PROT:Q9NQS7	INCENP	Q	805	H	Q805H	Likely pathogenic	1	1	64	1
MUT:INO80:Arg1246Gln	PROT:Q9ULG1	INO80	R	1246	Q	R1246Q	Likely pathogenic	1	1	21	4
MUT:INO80:Asn800Thr	PROT:Q9ULG1	INO80	N	800	T	N800T	Likely benign	0	1	21	76
MUT:INO80:Ile882Val	PROT:Q9ULG1	INO80	I	882	V	I882V	Benign/Likely benign	0	1	21	158
MUT:INO80:Ser1332Leu	PROT:Q9ULG1	INO80	S	1332	L	S1332L	Likely benign	0	1	21	74
MUT:INO80:Ser501Pro	PROT:Q9ULG1	INO80	S	501	P	S501P	Likely pathogenic	1	1	21	15
MUT:INO80:Thr1534Ile	PROT:Q9ULG1	INO80	T	1534	I	T1534I	Likely benign	0	1	21	18
MUT:INO80:Val1108Gly	PROT:Q9ULG1	INO80	V	1108	G	V1108G	Likely benign	0	1	21	4
MUT:INPP5E:Arg264His	PROT:Q9NRR6	INPP5E	R	264	H	R264H	Benign/Likely benign	0	2	17	8
MUT:INPP5E:Arg351His	PROT:Q9NRR6	INPP5E	R	351	H	R351H	Likely pathogenic	1	1	17	88
MUT:INPP5E:Arg378Cys	PROT:Q9NRR6	INPP5E	R	378	C	R378C	Pathogenic/Likely pathogenic	1	4	17	61
MUT:INPP5E:Arg435Gln	PROT:Q9NRR6	INPP5E	R	435	Q	R435Q	Pathogenic/Likely pathogenic	1	4	17	4
MUT:INPP5E:Arg435Trp	PROT:Q9NRR6	INPP5E	R	435	W	R435W	Pathogenic	1	4	17	4
MUT:INPP5E:Arg515Trp	PROT:Q9NRR6	INPP5E	R	515	W	R515W	Pathogenic/Likely pathogenic	1	2	17	6
MUT:INPP5E:Arg557His	PROT:Q9NRR6	INPP5E	R	557	H	R557H	Likely pathogenic	1	2	17	8
MUT:INPP5E:Arg563His	PROT:Q9NRR6	INPP5E	R	563	H	R563H	Likely pathogenic	1	2	17	2
MUT:INPP5E:Arg585Cys	PROT:Q9NRR6	INPP5E	R	585	C	R585C	Pathogenic/Likely pathogenic	1	3	17	20
MUT:INPP5E:Arg621Gln	PROT:Q9NRR6	INPP5E	R	621	Q	R621Q	Pathogenic/Likely pathogenic	1	4	17	16
MUT:INPP5E:Arg621Leu	PROT:Q9NRR6	INPP5E	R	621	L	R621L	Likely pathogenic	1	1	17	16
MUT:INPP5E:Arg621Trp	PROT:Q9NRR6	INPP5E	R	621	W	R621W	Pathogenic/Likely pathogenic	1	4	17	16
MUT:INPP5E:Arg73Trp	PROT:Q9NRR6	INPP5E	R	73	W	R73W	Likely benign	0	2	17	26
MUT:INPP5E:Asn456Lys	PROT:Q9NRR6	INPP5E	N	456	K	N456K	Likely pathogenic	1	1	17	17
MUT:INPP5E:Asn456Thr	PROT:Q9NRR6	INPP5E	N	456	T	N456T	Pathogenic	1	1	17	17
MUT:INPP5E:Asp438Asn	PROT:Q9NRR6	INPP5E	D	438	N	D438N	Likely pathogenic	1	1	17	1
MUT:INPP5E:Asp583Tyr	PROT:Q9NRR6	INPP5E	D	583	Y	D583Y	Likely pathogenic	1	1	17	18
MUT:INPP5E:Cys385Tyr	PROT:Q9NRR6	INPP5E	C	385	Y	C385Y	Pathogenic/Likely pathogenic	1	2	17	54
MUT:INPP5E:Cys576Gly	PROT:Q9NRR6	INPP5E	C	576	G	C576G	Pathogenic	1	1	17	11
MUT:INPP5E:Glu612Val	PROT:Q9NRR6	INPP5E	E	612	V	E612V	Likely pathogenic	1	1	17	25
MUT:INPP5E:Gly108Glu	PROT:Q9NRR6	INPP5E	G	108	E	G108E	Likely benign	0	1	17	1
MUT:INPP5E:Gly476Arg	PROT:Q9NRR6	INPP5E	G	476	R	G476R	Pathogenic	1	1	17	37
MUT:INPP5E:Gly522Ala	PROT:Q9NRR6	INPP5E	G	522	A	G522A	Pathogenic/Likely pathogenic	1	4	17	1
MUT:INPP5E:Gly522Arg	PROT:Q9NRR6	INPP5E	G	522	R	G522R	Likely pathogenic	1	1	17	1
MUT:INPP5E:Gly566Asp	PROT:Q9NRR6	INPP5E	G	566	D	G566D	Likely benign	0	2	17	1
MUT:INPP5E:Ile201Met	PROT:Q9NRR6	INPP5E	I	201	M	I201M	Benign/Likely benign	0	2	17	19
MUT:INPP5E:Lys580Asn	PROT:Q9NRR6	INPP5E	K	580	N	K580N	Likely pathogenic	1	1	17	15
MUT:INPP5E:Pro191Arg	PROT:Q9NRR6	INPP5E	P	191	R	P191R	Benign/Likely benign	0	1	17	25
MUT:INPP5E:Pro315Leu	PROT:Q9NRR6	INPP5E	P	315	L	P315L	Pathogenic	1	2	17	59
MUT:INPP5E:Ser364Phe	PROT:Q9NRR6	INPP5E	S	364	F	S364F	Likely benign	0	1	17	75
MUT:INPP5E:Ser386Pro	PROT:Q9NRR6	INPP5E	S	386	P	S386P	Likely pathogenic	1	2	17	53
MUT:INPP5E:Ser417Pro	PROT:Q9NRR6	INPP5E	S	417	P	S417P	Pathogenic	1	1	17	22
MUT:INPP5E:Thr355Met	PROT:Q9NRR6	INPP5E	T	355	M	T355M	Pathogenic	1	1	17	84
MUT:INPP5E:Tyr588His	PROT:Q9NRR6	INPP5E	Y	588	H	Y588H	Likely pathogenic	1	1	17	23
MUT:INPP5E:Val303Met	PROT:Q9NRR6	INPP5E	V	303	M	V303M	Pathogenic/Likely pathogenic	1	2	17	47
MUT:INPP5E:Val443Ile	PROT:Q9NRR6	INPP5E	V	443	I	V443I	Likely benign	0	1	17	4
MUT:INPP5K:Arg176Gln	PROT:Q9BT40	INPP5K	R	176	Q	R176Q	Likely benign	0	1	1	52
MUT:INPP5K:Arg212Gln	PROT:Q9BT40	INPP5K	R	212	Q	R212Q	Likely benign	0	1	1	16
MUT:INPP5K:Asn42Asp	PROT:Q9BT40	INPP5K	N	42	D	N42D	Likely benign	0	1	1	186
MUT:INPP5K:Asp255Asn	PROT:Q9BT40	INPP5K	D	255	N	D255N	Likely benign	0	1	1	27
MUT:INPP5K:Asp269Asn	PROT:Q9BT40	INPP5K	D	269	N	D269N	Pathogenic	1	1	1	41
MUT:INPP5K:Gly140Ser	PROT:Q9BT40	INPP5K	G	140	S	G140S	Likely pathogenic	1	1	1	88
MUT:INPP5K:Gly215Arg	PROT:Q9BT40	INPP5K	G	215	R	G215R	Benign	0	1	1	13
MUT:INPP5K:Gly215Ser	PROT:Q9BT40	INPP5K	G	215	S	G215S	Benign	0	1	1	13
MUT:INPP5K:Leu55Phe	PROT:Q9BT40	INPP5K	L	55	F	L55F	Pathogenic	1	1	1	173
MUT:INPP5K:Met93Val	PROT:Q9BT40	INPP5K	M	93	V	M93V	Pathogenic	1	1	1	135
MUT:INPP5K:Pro289Leu	PROT:Q9BT40	INPP5K	P	289	L	P289L	Benign	0	1	1	61
MUT:INPP5K:Ser309Gly	PROT:Q9BT40	INPP5K	S	309	G	S309G	Likely pathogenic	1	1	1	81
MUT:INPP5K:Thr305Met	PROT:Q9BT40	INPP5K	T	305	M	T305M	Benign	0	1	1	77
MUT:INPP5K:Tyr300Cys	PROT:Q9BT40	INPP5K	Y	300	C	Y300C	Pathogenic	1	1	1	72
MUT:INPP5K:Val23Met	PROT:Q9BT40	INPP5K	V	23	M	V23M	Pathogenic	1	1	1	205
MUT:INPP5K:Val341Met	PROT:Q9BT40	INPP5K	V	341	M	V341M	Likely benign	0	1	1	113
MUT:INPP5K:Val347Ile	PROT:Q9BT40	INPP5K	V	347	I	V347I	Likely benign	0	1	1	119
MUT:INTS1:Ala2044Thr	PROT:Q8N201	INTS1	A	2044	T	A2044T	Likely benign	0	1	35	176
MUT:INTS1:Ala2148Thr	PROT:Q8N201	INTS1	A	2148	T	A2148T	Likely benign	0	1	35	280
MUT:INTS1:Ala272Val	PROT:Q8N201	INTS1	A	272	V	A272V	Likely benign	0	1	35	18
MUT:INTS1:Ala322Val	PROT:Q8N201	INTS1	A	322	V	A322V	Likely benign	0	1	35	15
MUT:INTS1:Ala453Ser	PROT:Q8N201	INTS1	A	453	S	A453S	Likely benign	0	1	35	42
MUT:INTS1:Arg1482Lys	PROT:Q8N201	INTS1	R	1482	K	R1482K	Likely benign	0	1	35	61
MUT:INTS1:Arg1503His	PROT:Q8N201	INTS1	R	1503	H	R1503H	Likely benign	0	1	35	40
MUT:INTS1:Arg2016Gln	PROT:Q8N201	INTS1	R	2016	Q	R2016Q	Likely benign	0	1	35	148
MUT:INTS1:Arg570Lys	PROT:Q8N201	INTS1	R	570	K	R570K	Likely benign	0	1	35	1
MUT:INTS1:Asp928Glu	PROT:Q8N201	INTS1	D	928	E	D928E	Likely benign	0	1	35	4
MUT:INTS1:Glu2020Lys	PROT:Q8N201	INTS1	E	2020	K	E2020K	Likely benign	0	1	35	152
MUT:INTS1:Gly1491Arg	PROT:Q8N201	INTS1	G	1491	R	G1491R	Likely benign	0	1	35	52
MUT:INTS1:Gly1603Ser	PROT:Q8N201	INTS1	G	1603	S	G1603S	Likely benign	0	1	35	60
MUT:INTS1:Gly52Ser	PROT:Q8N201	INTS1	G	52	S	G52S	Likely benign	0	1	35	17
MUT:INTS1:Ile1549Met	PROT:Q8N201	INTS1	I	1549	M	I1549M	Likely benign	0	1	35	6
MUT:INTS1:Met549Val	PROT:Q8N201	INTS1	M	549	V	M549V	Pathogenic	1	1	35	20
MUT:INTS1:Pro1109Leu	PROT:Q8N201	INTS1	P	1109	L	P1109L	Likely benign	0	1	35	26
MUT:INTS1:Pro1599Leu	PROT:Q8N201	INTS1	P	1599	L	P1599L	Likely benign	0	1	35	56
MUT:INTS1:Pro1874Leu	PROT:Q8N201	INTS1	P	1874	L	P1874L	Pathogenic	1	1	35	6
MUT:INTS1:Pro1972Ala	PROT:Q8N201	INTS1	P	1972	A	P1972A	Likely benign	0	1	35	104
MUT:INTS1:Val1128Met	PROT:Q8N201	INTS1	V	1128	M	V1128M	Benign	0	1	35	7
MUT:INTS1:Val1391Ile	PROT:Q8N201	INTS1	V	1391	I	V1391I	Likely benign	0	1	35	64
MUT:INTS1:Val146Leu	PROT:Q8N201	INTS1	V	146	L	V146L	Likely benign	0	1	35	6
MUT:INTS6:Ala738Gly	PROT:Q9UL03	INTS6	A	738	G	A738G	Likely benign	0	1	10	66
MUT:INTS6:Gln228Glu	PROT:Q9UL03	INTS6	Q	228	E	Q228E	Likely pathogenic	1	1	10	69
MUT:INTS6:His400Arg	PROT:Q9UL03	INTS6	H	400	R	H400R	Pathogenic	1	1	10	99
MUT:INTS6:Thr137Ile	PROT:Q9UL03	INTS6	T	137	I	T137I	Pathogenic	1	1	10	13
MUT:INVS:Ala650Pro	PROT:Q9Y283	INVS	A	650	P	A650P	Benign/Likely benign	0	3	18	8
MUT:INVS:Arg706Gly	PROT:Q9Y283	INVS	R	706	G	R706G	Benign/Likely benign	0	2	18	45
MUT:INVS:Arg861Thr	PROT:Q9Y283	INVS	R	861	T	R861T	Benign/Likely benign	0	3	18	66
MUT:INVS:Asn247Ser	PROT:Q9Y283	INVS	N	247	S	N247S	Benign/Likely benign	0	3	18	47
MUT:INVS:Gly801Glu	PROT:Q9Y283	INVS	G	801	E	G801E	Benign	0	3	18	6
MUT:INVS:His260Tyr	PROT:Q9Y283	INVS	H	260	Y	H260Y	Likely pathogenic	1	1	18	50
MUT:INVS:Leu666Pro	PROT:Q9Y283	INVS	L	666	P	L666P	Likely benign	0	1	18	5
MUT:INVS:Ser242Leu	PROT:Q9Y283	INVS	S	242	L	S242L	Benign/Likely benign	0	2	18	42
MUT:INVS:Val305Ile	PROT:Q9Y283	INVS	V	305	I	V305I	Benign/Likely benign	0	2	18	5
MUT:IPO11:Gln632Arg	PROT:Q9UI26	IPO11	Q	632	R	Q632R	Likely benign	0	1	6	281
MUT:IPO8:Arg834Trp	PROT:O15397	IPO8	R	834	W	R834W	Likely pathogenic	1	2	14	68
MUT:IPO8:Asp88Asn	PROT:O15397	IPO8	D	88	N	D88N	Likely pathogenic	1	2	14	71
MUT:IPO8:Cys749Arg	PROT:O15397	IPO8	C	749	R	C749R	Likely pathogenic	1	2	14	151
MUT:IQCB1:Arg259His	PROT:Q15051	IQCB1	R	259	H	R259H	Benign	0	2	20	4
MUT:IQCB1:Arg435Cys	PROT:Q15051	IQCB1	R	435	C	R435C	Benign	0	2	20	37
MUT:IQCB1:Arg461Gln	PROT:Q15051	IQCB1	R	461	Q	R461Q	Likely benign	0	1	20	11
MUT:IQCB1:Cys434Tyr	PROT:Q15051	IQCB1	C	434	Y	C434Y	Benign	0	2	20	38
MUT:IQCB1:Ile393Asn	PROT:Q15051	IQCB1	I	393	N	I393N	Benign	0	2	20	24
MUT:IQCB1:Lys131Arg	PROT:Q15051	IQCB1	K	131	R	K131R	Likely benign	0	1	20	74
MUT:IQCB1:Phe142Leu	PROT:Q15051	IQCB1	F	142	L	F142L	Benign/Likely benign	0	2	20	63
MUT:IQCE:Ala546Val	PROT:Q6IPM2	IQCE	A	546	V	A546V	Benign	0	2	6	36
MUT:IQCE:Arg341Lys	PROT:Q6IPM2	IQCE	R	341	K	R341K	Benign	0	1	6	77
MUT:IQCE:Arg383Leu	PROT:Q6IPM2	IQCE	R	383	L	R383L	Likely benign	0	1	6	119
MUT:IQCE:Arg392His	PROT:Q6IPM2	IQCE	R	392	H	R392H	Benign	0	1	6	128
MUT:IQCE:Arg587His	PROT:Q6IPM2	IQCE	R	587	H	R587H	Benign	0	2	6	3
MUT:IQCE:Arg635Lys	PROT:Q6IPM2	IQCE	R	635	K	R635K	Benign	0	2	6	45
MUT:IQCE:Arg71Gln	PROT:Q6IPM2	IQCE	R	71	Q	R71Q	Benign	0	1	6	57
MUT:IQCE:Cys371Arg	PROT:Q6IPM2	IQCE	C	371	R	C371R	Benign	0	1	6	107
MUT:IQCE:Leu666Val	PROT:Q6IPM2	IQCE	L	666	V	L666V	Benign	0	2	6	76
MUT:IQCE:Met1Ile	PROT:Q6IPM2	IQCE	M	1	I	M1I	Likely pathogenic	1	1	6	127
MUT:IQCE:Pro586Ser	PROT:Q6IPM2	IQCE	P	586	S	P586S	Likely benign	0	1	6	4
MUT:IQCE:Pro686Leu	PROT:Q6IPM2	IQCE	P	686	L	P686L	Benign	0	1	6	96
MUT:IQCE:Ser638Trp	PROT:Q6IPM2	IQCE	S	638	W	S638W	Benign	0	1	6	48
MUT:IQCE:Thr596Ala	PROT:Q6IPM2	IQCE	T	596	A	T596A	Benign	0	2	6	6
MUT:IQCE:Thr690Met	PROT:Q6IPM2	IQCE	T	690	M	T690M	Benign	0	2	6	100
MUT:IQGAP1:Arg1487Lys	PROT:P46940	IQGAP1	R	1487	K	R1487K	Likely benign	0	1	53	18
MUT:IQGAP1:Met1231Ile	PROT:P46940	IQGAP1	M	1231	I	M1231I	Likely benign	0	1	53	87
MUT:IQGAP3:Ala1124Thr	PROT:Q86VI3	IQGAP3	A	1124	T	A1124T	Benign	0	1	25	26
MUT:IQGAP3:Arg1423His	PROT:Q86VI3	IQGAP3	R	1423	H	R1423H	Likely benign	0	1	25	1
MUT:IQGAP3:Arg383Gln	PROT:Q86VI3	IQGAP3	R	383	Q	R383Q	Benign	0	1	25	26
MUT:IQGAP3:Arg593Leu	PROT:Q86VI3	IQGAP3	R	593	L	R593L	Benign	0	1	25	17
MUT:IQGAP3:Asn215Ser	PROT:Q86VI3	IQGAP3	N	215	S	N215S	Likely benign	0	3	25	130
MUT:IQGAP3:Asp645Asn	PROT:Q86VI3	IQGAP3	D	645	N	D645N	Benign	0	1	25	69
MUT:IQGAP3:Gly430Arg	PROT:Q86VI3	IQGAP3	G	430	R	G430R	Likely benign	0	1	25	73
MUT:IQGAP3:Gly430Glu	PROT:Q86VI3	IQGAP3	G	430	E	G430E	Likely benign	0	1	25	73
MUT:IQGAP3:Trp10Arg	PROT:Q86VI3	IQGAP3	W	10	R	W10R	Benign	0	1	25	73
MUT:IQSEC1:Arg321Gln	PROT:Q6DN90	IQSEC1	R	321	Q	R321Q	Likely pathogenic	1	1	20	22
MUT:IQSEC1:Gly922Arg	PROT:Q6DN90	IQSEC1	G	922	R	G922R	Likely benign	0	1	20	1
MUT:IQSEC1:Thr343Met	PROT:Q6DN90	IQSEC1	T	343	M	T343M	Pathogenic	1	1	20	0
MUT:IQSEC1:Val868Ile	PROT:Q6DN90	IQSEC1	V	868	I	V868I	Likely benign	0	1	20	45
MUT:IRAG1:Lys116Arg	PROT:Q9Y6F6	IRAG1	K	116	R	K116R	Likely benign	0	1	5	55
MUT:IRAK4:Ala428Thr	PROT:Q9NWZ3	IRAK4	A	428	T	A428T	Benign	0	1	22	12
MUT:IRAK4:Arg391Cys	PROT:Q9NWZ3	IRAK4	R	391	C	R391C	Likely benign	0	1	22	25
MUT:IRAK4:Arg391His	PROT:Q9NWZ3	IRAK4	R	391	H	R391H	Benign	0	2	22	25
MUT:IRAK4:Glu224Lys	PROT:Q9NWZ3	IRAK4	E	224	K	E224K	Likely benign	0	1	22	15
MUT:IRAK4:His306Asn	PROT:Q9NWZ3	IRAK4	H	306	N	H306N	Likely benign	0	1	22	7
MUT:IRAK4:His390Arg	PROT:Q9NWZ3	IRAK4	H	390	R	H390R	Likely benign	0	2	22	26
MUT:IRF2BPL:Ala153Thr	PROT:Q9H1B7	IRF2BPL	A	153	T	A153T	Likely benign	0	1	20	133
MUT:IRF2BPL:Ala226Val	PROT:Q9H1B7	IRF2BPL	A	226	V	A226V	Likely benign	0	1	20	60
MUT:IRF2BPL:Ala517Val	PROT:Q9H1B7	IRF2BPL	A	517	V	A517V	Likely benign	0	1	20	2
MUT:IRF2BPL:Arg391Cys	PROT:Q9H1B7	IRF2BPL	R	391	C	R391C	Likely pathogenic	1	1	20	18
MUT:IRF2BPL:Asn241His	PROT:Q9H1B7	IRF2BPL	N	241	H	N241H	Benign/Likely benign	0	1	20	45
MUT:IRF2BPL:Asp395His	PROT:Q9H1B7	IRF2BPL	D	395	H	D395H	Likely pathogenic	1	1	20	22
MUT:IRF2BPL:Glu359Asp	PROT:Q9H1B7	IRF2BPL	E	359	D	E359D	Likely benign	0	1	20	12
MUT:IRF2BPL:Gly400Ser	PROT:Q9H1B7	IRF2BPL	G	400	S	G400S	Likely pathogenic	1	1	20	23
MUT:IRF2BPL:Ile27Leu	PROT:Q9H1B7	IRF2BPL	I	27	L	I27L	Likely benign	0	1	20	12
MUT:IRF2BPL:Lys418Asn	PROT:Q9H1B7	IRF2BPL	K	418	N	K418N	Pathogenic	1	1	20	5
MUT:IRF2BPL:Lys641Thr	PROT:Q9H1B7	IRF2BPL	K	641	T	K641T	Likely pathogenic	1	1	20	2
MUT:IRF2BPL:Phe420Ser	PROT:Q9H1B7	IRF2BPL	F	420	S	F420S	Likely pathogenic	1	1	20	3
MUT:IRF2BPL:Pro242Ser	PROT:Q9H1B7	IRF2BPL	P	242	S	P242S	Likely benign	0	1	20	44
MUT:IRF2BPL:Pro253Ser	PROT:Q9H1B7	IRF2BPL	P	253	S	P253S	Likely benign	0	1	20	33
MUT:IRF2BPL:Pro372Arg	PROT:Q9H1B7	IRF2BPL	P	372	R	P372R	Pathogenic	1	1	20	1
MUT:IRF2BPL:Pro479Leu	PROT:Q9H1B7	IRF2BPL	P	479	L	P479L	Pathogenic/Likely pathogenic	1	1	20	15
MUT:IRF2BPL:Ser169Gly	PROT:Q9H1B7	IRF2BPL	S	169	G	S169G	Likely benign	0	1	20	117
MUT:IRF2BPL:Ser184Gly	PROT:Q9H1B7	IRF2BPL	S	184	G	S184G	Likely benign	0	1	20	102
MUT:IRF2BPL:Ser218Phe	PROT:Q9H1B7	IRF2BPL	S	218	F	S218F	Likely benign	0	1	20	68
MUT:IRF2BPL:Ser310Phe	PROT:Q9H1B7	IRF2BPL	S	310	F	S310F	Likely benign	0	1	20	24
MUT:IRF2BPL:Ser313Leu	PROT:Q9H1B7	IRF2BPL	S	313	L	S313L	Likely benign	0	1	20	21
MUT:IRF2BPL:Ser540Asn	PROT:Q9H1B7	IRF2BPL	S	540	N	S540N	Likely benign	0	1	20	21
MUT:IRF2BPL:Ser735Cys	PROT:Q9H1B7	IRF2BPL	S	735	C	S735C	Likely benign	0	1	20	13
MUT:IRF2BPL:Thr308Ala	PROT:Q9H1B7	IRF2BPL	T	308	A	T308A	Likely benign	0	1	20	22
MUT:IRF2BPL:Thr316Ile	PROT:Q9H1B7	IRF2BPL	T	316	I	T316I	Likely benign	0	1	20	18
MUT:IRF2BPL:Thr386Met	PROT:Q9H1B7	IRF2BPL	T	386	M	T386M	Likely pathogenic	1	1	20	13
MUT:IRF2BPL:Val178Met	PROT:Q9H1B7	IRF2BPL	V	178	M	V178M	Likely benign	0	1	20	108
MUT:IRF2BPL:Val323Met	PROT:Q9H1B7	IRF2BPL	V	323	M	V323M	Likely benign	0	1	20	11
MUT:IRF2BPL:Val325Ala	PROT:Q9H1B7	IRF2BPL	V	325	A	V325A	Likely benign	0	1	20	9
MUT:IRF2BPL:Val76Ile	PROT:Q9H1B7	IRF2BPL	V	76	I	V76I	Likely benign	0	1	20	61
MUT:IRF3:Arg276Gln	PROT:Q14653	IRF3	R	276	Q	R276Q	Likely benign	0	1	17	17
MUT:IRF3:Arg96Gln	PROT:Q14653	IRF3	R	96	Q	R96Q	Benign	0	1	17	1
MUT:IRF3:Asn127Ser	PROT:Q14653	IRF3	N	127	S	N127S	Likely benign	0	1	17	4
MUT:IRF3:Ser175Gly	PROT:Q14653	IRF3	S	175	G	S175G	Benign	0	1	17	0
MUT:IRF4:Arg201His	PROT:Q15306	IRF4	R	201	H	R201H	Likely benign	0	1	12	9
MUT:IRF4:Arg98Trp	PROT:Q15306	IRF4	R	98	W	R98W	Pathogenic	1	1	12	5
MUT:IRF4:Phe359Leu	PROT:Q15306	IRF4	F	359	L	F359L	Pathogenic	1	1	12	32
MUT:IRF4:Thr95Arg	PROT:Q15306	IRF4	T	95	R	T95R	Pathogenic	1	1	12	8
MUT:IRF6:Ala2Val	PROT:O14896	IRF6	A	2	V	A2V	Pathogenic	1	1	13	31
MUT:IRF6:Arg250Gln	PROT:O14896	IRF6	R	250	Q	R250Q	Pathogenic/Likely pathogenic	1	1	13	3
MUT:IRF6:Arg339Ile	PROT:O14896	IRF6	R	339	I	R339I	Pathogenic	1	2	13	17
MUT:IRF6:Arg400Gln	PROT:O14896	IRF6	R	400	Q	R400Q	Pathogenic	1	1	13	7
MUT:IRF6:Arg400Trp	PROT:O14896	IRF6	R	400	W	R400W	Pathogenic	1	1	13	7
MUT:IRF6:Arg6Cys	PROT:O14896	IRF6	R	6	C	R6C	Pathogenic/Likely pathogenic	1	2	13	27
MUT:IRF6:Arg84Cys	PROT:O14896	IRF6	R	84	C	R84C	Pathogenic/Likely pathogenic	1	3	13	6
MUT:IRF6:Arg84His	PROT:O14896	IRF6	R	84	H	R84H	Pathogenic	1	3	13	6
MUT:IRF6:Arg84Leu	PROT:O14896	IRF6	R	84	L	R84L	Pathogenic	1	1	13	6
MUT:IRF6:Arg9Trp	PROT:O14896	IRF6	R	9	W	R9W	Pathogenic/Likely pathogenic	1	1	13	24
MUT:IRF6:Asp148Gly	PROT:O14896	IRF6	D	148	G	D148G	Benign	0	1	13	26
MUT:IRF6:Glu404Lys	PROT:O14896	IRF6	E	404	K	E404K	Pathogenic/Likely pathogenic	1	2	13	3
MUT:IRF6:Glu53Gly	PROT:O14896	IRF6	E	53	G	E53G	Likely pathogenic	1	1	13	6
MUT:IRF6:Gly121Val	PROT:O14896	IRF6	G	121	V	G121V	Benign	0	1	13	1
MUT:IRF6:Gly21Val	PROT:O14896	IRF6	G	21	V	G21V	Likely pathogenic	1	1	13	12
MUT:IRF6:Gly254Ala	PROT:O14896	IRF6	G	254	A	G254A	Likely pathogenic	1	1	13	1
MUT:IRF6:Gly325Trp	PROT:O14896	IRF6	G	325	W	G325W	Likely pathogenic	1	1	13	3
MUT:IRF6:Gly65Glu	PROT:O14896	IRF6	G	65	E	G65E	Likely pathogenic	1	1	13	1
MUT:IRF6:Ile38Thr	PROT:O14896	IRF6	I	38	T	I38T	Pathogenic	1	1	13	5
MUT:IRF6:Leu22Pro	PROT:O14896	IRF6	L	22	P	L22P	Pathogenic	1	2	13	11
MUT:IRF6:Leu316Pro	PROT:O14896	IRF6	L	316	P	L316P	Pathogenic	1	1	13	6
MUT:IRF6:Leu391Phe	PROT:O14896	IRF6	L	391	F	L391F	Benign	0	1	13	16
MUT:IRF6:Leu439Pro	PROT:O14896	IRF6	L	439	P	L439P	Pathogenic	1	1	13	14
MUT:IRF6:Lys34Glu	PROT:O14896	IRF6	K	34	E	K34E	Likely pathogenic	1	1	13	1
MUT:IRF6:Lys34Thr	PROT:O14896	IRF6	K	34	T	K34T	Likely pathogenic	1	1	13	1
MUT:IRF6:Phe266Ser	PROT:O14896	IRF6	F	266	S	F266S	Pathogenic	1	1	13	4
MUT:IRF6:Pro164Ala	PROT:O14896	IRF6	P	164	A	P164A	Benign	0	1	13	42
MUT:IRF6:Pro24Ser	PROT:O14896	IRF6	P	24	S	P24S	Likely benign	0	1	13	9
MUT:IRF6:Pro396Ser	PROT:O14896	IRF6	P	396	S	P396S	Pathogenic	1	1	13	11
MUT:IRF6:Ser153Ala	PROT:O14896	IRF6	S	153	A	S153A	Benign	0	1	13	31
MUT:IRF6:Ser212Asn	PROT:O14896	IRF6	S	212	N	S212N	Benign	0	1	13	41
MUT:IRF6:Ser220Phe	PROT:O14896	IRF6	S	220	F	S220F	Likely pathogenic	1	1	13	33
MUT:IRF6:Ser424Leu	PROT:O14896	IRF6	S	424	L	S424L	Likely pathogenic	1	1	13	0
MUT:IRF6:Thr100Ala	PROT:O14896	IRF6	T	100	A	T100A	Pathogenic	1	1	13	3
MUT:IRF6:Val274Ile	PROT:O14896	IRF6	V	274	I	V274I	Benign	0	2	13	4
MUT:IRF6:Val297Ile	PROT:O14896	IRF6	V	297	I	V297I	Likely pathogenic	1	1	13	25
MUT:IRF6:Val332Ile	PROT:O14896	IRF6	V	332	I	V332I	Benign	0	2	13	10
MUT:IRF7:Arg37His	PROT:Q92985	IRF7	R	37	H	R37H	Benign	0	2	12	13
MUT:IRF7:Arg420Trp	PROT:Q92985	IRF7	R	420	W	R420W	Likely benign	0	1	12	32
MUT:IRF7:Asp204Asn	PROT:Q92985	IRF7	D	204	N	D204N	Likely benign	0	2	12	112
MUT:IRF7:Lys179Glu	PROT:Q92985	IRF7	K	179	E	K179E	Benign	0	1	12	87
MUT:IRF7:Thr254Ala	PROT:Q92985	IRF7	T	254	A	T254A	Likely benign	0	1	12	121
MUT:IRF8:Gly139Ser	PROT:Q02556	IRF8	G	139	S	G139S	Likely benign	0	1	6	12
MUT:IRF8:Gly272Arg	PROT:Q02556	IRF8	G	272	R	G272R	Likely pathogenic	1	1	6	32
MUT:IRF8:Lys108Glu	PROT:Q02556	IRF8	K	108	E	K108E	Pathogenic	1	1	6	1
MUT:IRF8:Thr80Ala	PROT:Q02556	IRF8	T	80	A	T80A	Likely pathogenic	1	1	6	27
MUT:IRF8:Tyr242His	PROT:Q02556	IRF8	Y	242	H	Y242H	Likely benign	0	1	6	2
MUT:IRS4:Ala1009Ser	PROT:O14654	IRS4	A	1009	S	A1009S	Likely benign	0	1	50	33
MUT:IRS4:His879Asp	PROT:O14654	IRS4	H	879	D	H879D	Benign	0	1	50	2
MUT:IRX4:Ser24Asn	PROT:P78413	IRX4	S	24	N	S24N	Pathogenic	1	1	5	130
MUT:IRX4:Thr191Ile	PROT:P78413	IRX4	T	191	I	T191I	Pathogenic	1	1	5	37
MUT:ISCU:Ala12Val	PROT:Q9H1K1	ISCU	A	12	V	A12V	Benign	0	1	5	42
MUT:ISCU:Gly50Glu	PROT:Q9H1K1	ISCU	G	50	E	G50E	Likely pathogenic	1	1	5	4
MUT:ISCU:Phe7Cys	PROT:Q9H1K1	ISCU	F	7	C	F7C	Benign	0	1	5	47
MUT:ISCU:Phe7Gly	PROT:Q9H1K1	ISCU	F	7	G	F7G	Benign	0	1	5	47
MUT:ISCU:Phe7Val	PROT:Q9H1K1	ISCU	F	7	V	F7V	Benign	0	1	5	47
MUT:ISG15:Arg164Pro	PROT:P05161	ISG15	R	164	P	R164P	Likely benign	0	1	1	114
MUT:ISG15:Ser21Asn	PROT:P05161	ISG15	S	21	N	S21N	Benign/Likely benign	0	1	1	29
MUT:ISG15:Ser83Asn	PROT:P05161	ISG15	S	83	N	S83N	Benign	0	1	1	33
MUT:ITCH:Asn58Ser	PROT:Q96J02	ITCH	N	58	S	N58S	Likely benign	0	2	20	48
MUT:ITCH:Met1Ile	PROT:Q96J02	ITCH	M	1	I	M1I	Likely pathogenic	1	1	20	1
MUT:ITCH:Pro453Ala	PROT:Q96J02	ITCH	P	453	A	P453A	Likely benign	0	1	20	3
MUT:ITCH:Thr129Ala	PROT:Q96J02	ITCH	T	129	A	T129A	Likely benign	0	1	20	88
MUT:ITGA1:Lys81Thr	PROT:P56199	ITGA1	K	81	T	K81T	Likely benign	0	1	6	0
MUT:ITGA2:Ala319Thr	PROT:P17301	ITGA2	A	319	T	A319T	Benign	0	1	5	37
MUT:ITGA2:Ala90Thr	PROT:P17301	ITGA2	A	90	T	A90T	Benign	0	1	5	192
MUT:ITGA2:Ala9Ser	PROT:P17301	ITGA2	A	9	S	A9S	Likely benign	0	1	5	273
MUT:ITGA2:Arg597Cys	PROT:P17301	ITGA2	R	597	C	R597C	Likely benign	0	1	5	74
MUT:ITGA2:Arg76Gln	PROT:P17301	ITGA2	R	76	Q	R76Q	Benign/Likely benign	0	2	5	206
MUT:ITGA2:Arg804Gln	PROT:P17301	ITGA2	R	804	Q	R804Q	Likely benign	0	1	5	30
MUT:ITGA2:Asn1001Lys	PROT:P17301	ITGA2	N	1001	K	N1001K	Benign	0	2	5	75
MUT:ITGA2:Asn927Ser	PROT:P17301	ITGA2	N	927	S	N927S	Benign/Likely benign	0	1	5	149
MUT:ITGA2:Gln810Arg	PROT:P17301	ITGA2	Q	810	R	Q810R	Benign	0	1	5	36
MUT:ITGA2:Gln812Lys	PROT:P17301	ITGA2	Q	812	K	Q812K	Likely benign	0	1	5	38
MUT:ITGA2:Glu4Gly	PROT:P17301	ITGA2	E	4	G	E4G	Benign	0	1	5	278
MUT:ITGA2:Glu534Lys	PROT:P17301	ITGA2	E	534	K	E534K	Benign	0	1	5	137
MUT:ITGA2:Gly793Arg	PROT:P17301	ITGA2	G	793	R	G793R	Benign	0	1	5	19
MUT:ITGA2:Ile1173Thr	PROT:P17301	ITGA2	I	1173	T	I1173T	Benign/Likely benign	0	1	5	97
MUT:ITGA2:Ile173Val	PROT:P17301	ITGA2	I	173	V	I173V	Benign/Likely benign	0	1	5	109
MUT:ITGA2:Ile532Leu	PROT:P17301	ITGA2	I	532	L	I532L	Benign/Likely benign	0	2	5	139
MUT:ITGA2:Ile700Thr	PROT:P17301	ITGA2	I	700	T	I700T	Benign	0	1	5	29
MUT:ITGA2:Ile806Leu	PROT:P17301	ITGA2	I	806	L	I806L	Likely benign	0	1	5	32
MUT:ITGA2:Ile893Thr	PROT:P17301	ITGA2	I	893	T	I893T	Benign/Likely benign	0	1	5	119
MUT:ITGA2:Ile960Val	PROT:P17301	ITGA2	I	960	V	I960V	Likely benign	0	1	5	116
MUT:ITGA2:Lys1127Gln	PROT:P17301	ITGA2	K	1127	Q	K1127Q	Benign	0	1	5	51
MUT:ITGA2:Met109Ile	PROT:P17301	ITGA2	M	109	I	M109I	Benign	0	1	5	173
MUT:ITGA2:Met291Leu	PROT:P17301	ITGA2	M	291	L	M291L	Benign	0	1	5	9
MUT:ITGA2:Pro12Arg	PROT:P17301	ITGA2	P	12	R	P12R	Likely benign	0	1	5	270
MUT:ITGA2:Ser835Gly	PROT:P17301	ITGA2	S	835	G	S835G	Likely benign	0	1	5	61
MUT:ITGA2:Thr1052Ser	PROT:P17301	ITGA2	T	1052	S	T1052S	Benign/Likely benign	0	1	5	24
MUT:ITGA2:Thr828Met	PROT:P17301	ITGA2	T	828	M	T828M	Benign	0	1	5	54
MUT:ITGA2:Thr892Pro	PROT:P17301	ITGA2	T	892	P	T892P	Benign	0	1	5	118
MUT:ITGA2:Val843Ala	PROT:P17301	ITGA2	V	843	A	V843A	Likely benign	0	1	5	69
MUT:ITGA6:Ala380Thr	PROT:P23229	ITGA6	A	380	T	A380T	Benign	0	1	4	66
MUT:ITGA6:Ala4Thr	PROT:P23229	ITGA6	A	4	T	A4T	Likely benign	0	1	4	442
MUT:ITGA6:Arg902Trp	PROT:P23229	ITGA6	R	902	W	R902W	Benign	0	1	4	162
MUT:ITGA6:Arg953His	PROT:P23229	ITGA6	R	953	H	R953H	Likely benign	0	1	4	111
MUT:ITGA6:Asp766Tyr	PROT:P23229	ITGA6	D	766	Y	D766Y	Benign	0	2	4	298
MUT:ITGA6:Asp910Asn	PROT:P23229	ITGA6	D	910	N	D910N	Benign/Likely benign	0	1	4	154
MUT:ITGA6:Gly298Ser	PROT:P23229	ITGA6	G	298	S	G298S	Benign	0	1	4	148
MUT:ITGA6:Ile582Val	PROT:P23229	ITGA6	I	582	V	I582V	Benign	0	1	4	122
MUT:ITGA6:Ile909Thr	PROT:P23229	ITGA6	I	909	T	I909T	Likely benign	0	1	4	155
MUT:ITGA6:Leu950Val	PROT:P23229	ITGA6	L	950	V	L950V	Likely benign	0	1	4	114
MUT:ITGA6:Met50Val	PROT:P23229	ITGA6	M	50	V	M50V	Likely benign	0	2	4	396
MUT:ITGA6:Ser47Leu	PROT:P23229	ITGA6	S	47	L	S47L	Likely pathogenic	1	2	4	399
MUT:ITGA6:Val930Met	PROT:P23229	ITGA6	V	930	M	V930M	Benign	0	1	4	134
MUT:ITGA9:Arg564Gln	PROT:Q13797	ITGA9	R	564	Q	R564Q	Benign	0	11	4	349
MUT:ITGA9:Asn361Asp	PROT:Q13797	ITGA9	N	361	D	N361D	Benign	0	1	4	288
MUT:ITGA9:Gly404Ser	PROT:Q13797	ITGA9	G	404	S	G404S	Likely benign	0	1	4	331
MUT:ITGA9:Gly507Glu	PROT:Q13797	ITGA9	G	507	E	G507E	Benign	0	1	4	406
MUT:ITGA9:Thr110Met	PROT:Q13797	ITGA9	T	110	M	T110M	Likely benign	0	1	4	37
MUT:ITGA9:Val723Met	PROT:Q13797	ITGA9	V	723	M	V723M	Likely benign	0	1	4	190
MUT:ITGA9:Val788Met	PROT:Q13797	ITGA9	V	788	M	V788M	Likely benign	0	1	4	125
MUT:ITIH6:Arg1264Lys	PROT:Q6UXX5	ITIH6	R	1264	K	R1264K	Benign	0	1	2	99
MUT:ITIH6:Arg446Pro	PROT:Q6UXX5	ITIH6	R	446	P	R446P	Likely benign	0	1	2	362
MUT:ITIH6:Arg561Cys	PROT:Q6UXX5	ITIH6	R	561	C	R561C	Likely benign	0	1	2	247
MUT:ITIH6:Arg580His	PROT:Q6UXX5	ITIH6	R	580	H	R580H	Benign/Likely benign	0	1	2	228
MUT:ITIH6:Ile852Thr	PROT:Q6UXX5	ITIH6	I	852	T	I852T	Benign	0	1	2	44
MUT:ITIH6:Ile908Leu	PROT:Q6UXX5	ITIH6	I	908	L	I908L	Likely benign	0	1	2	100
MUT:ITIH6:Thr1075Ser	PROT:Q6UXX5	ITIH6	T	1075	S	T1075S	Likely benign	0	1	2	90
MUT:ITIH6:Trp1041Ser	PROT:Q6UXX5	ITIH6	W	1041	S	W1041S	Benign	0	1	2	124
MUT:ITIH6:Tyr702Asn	PROT:Q6UXX5	ITIH6	Y	702	N	Y702N	Likely benign	0	1	2	106
MUT:ITK:Arg193Gln	PROT:Q08881	ITK	R	193	Q	R193Q	Benign/Likely benign	0	2	34	5
MUT:ITK:Arg29His	PROT:Q08881	ITK	R	29	H	R29H	Likely pathogenic	1	1	34	7
MUT:ITK:Arg335Trp	PROT:Q08881	ITK	R	335	W	R335W	Likely pathogenic	1	1	34	1
MUT:ITK:Arg610Cys	PROT:Q08881	ITK	R	610	C	R610C	Likely benign	0	1	34	25
MUT:ITK:Phe340Ser	PROT:Q08881	ITK	F	340	S	F340S	Likely benign	0	1	34	4
MUT:ITK:Val587Ile	PROT:Q08881	ITK	V	587	I	V587I	Benign/Likely benign	0	2	34	2
MUT:ITPA:Ala17Ser	PROT:Q9BY32	ITPA	A	17	S	A17S	Likely benign	0	1	9	1
MUT:ITPA:Arg180Gln	PROT:Q9BY32	ITPA	R	180	Q	R180Q	Benign	0	1	9	8
MUT:ITPA:Asn78Ser	PROT:Q9BY32	ITPA	N	78	S	N78S	Benign/Likely benign	0	2	9	18
MUT:ITPA:Asp109Tyr	PROT:Q9BY32	ITPA	D	109	Y	D109Y	Likely pathogenic	1	1	9	4
MUT:ITPA:Glu93Gly	PROT:Q9BY32	ITPA	E	93	G	E93G	Benign/Likely benign	0	1	9	3
MUT:ITPA:Phe91Leu	PROT:Q9BY32	ITPA	F	91	L	F91L	Likely pathogenic	1	1	9	5
MUT:ITPR2:Ala1898Val	PROT:Q14571	ITPR2	A	1898	V	A1898V	Benign	0	3	31	43
MUT:ITPR2:Gly2498Ser	PROT:Q14571	ITPR2	G	2498	S	G2498S	Pathogenic	1	1	31	118
MUT:ITPR2:Thr2184Ser	PROT:Q14571	ITPR2	T	2184	S	T2184S	Benign/Likely benign	0	1	31	20
MUT:ITPR3:Ala196Thr	PROT:Q14573	ITPR3	A	196	T	A196T	Pathogenic	1	1	41	40
MUT:ITPR3:Arg1819His	PROT:Q14573	ITPR3	R	1819	H	R1819H	Benign	0	1	41	8
MUT:ITPR3:Arg1850Gln	PROT:Q14573	ITPR3	R	1850	Q	R1850Q	Benign	0	2	41	3
MUT:ITPR3:Arg2524His	PROT:Q14573	ITPR3	R	2524	H	R2524H	Likely pathogenic	1	1	41	11
MUT:ITPR3:Asp1338Glu	PROT:Q14573	ITPR3	D	1338	E	D1338E	Likely benign	0	1	41	44
MUT:ITPR3:Asp742Glu	PROT:Q14573	ITPR3	D	742	E	D742E	Benign/Likely benign	0	1	41	36
MUT:ITPR3:Cys1738Tyr	PROT:Q14573	ITPR3	C	1738	Y	C1738Y	Likely benign	0	1	41	3
MUT:ITPR3:Glu2398Gln	PROT:Q14573	ITPR3	E	2398	Q	E2398Q	Benign	0	2	41	137
MUT:ITPR3:Ile2506Asn	PROT:Q14573	ITPR3	I	2506	N	I2506N	Pathogenic	1	1	41	29
MUT:ITPR3:Leu2436Val	PROT:Q14573	ITPR3	L	2436	V	L2436V	Benign	0	1	41	99
MUT:ITPR3:Leu374Trp	PROT:Q14573	ITPR3	L	374	W	L374W	Benign	0	1	41	50
MUT:ITPR3:Met1054Thr	PROT:Q14573	ITPR3	M	1054	T	M1054T	Benign	0	1	41	57
MUT:ITPR3:Thr1424Met	PROT:Q14573	ITPR3	T	1424	M	T1424M	Pathogenic/Likely pathogenic	1	1	41	42
MUT:ITPR3:Val2295Met	PROT:Q14573	ITPR3	V	2295	M	V2295M	Likely benign	0	1	41	128
MUT:ITPR3:Val615Met	PROT:Q14573	ITPR3	V	615	M	V615M	Pathogenic	1	1	41	2
MUT:ITSN1:Ala1155Val	PROT:Q15811	ITSN1	A	1155	V	A1155V	Likely benign	0	1	34	11
MUT:ITSN1:Ala171Pro	PROT:Q15811	ITSN1	A	171	P	A171P	Likely benign	0	1	34	17
MUT:ITSN1:Arg388Gln	PROT:Q15811	ITSN1	R	388	Q	R388Q	Likely benign	0	1	34	73
MUT:ITSN1:Arg992Gln	PROT:Q15811	ITSN1	R	992	Q	R992Q	Likely benign	0	1	34	9
MUT:ITSN1:Asp584Gly	PROT:Q15811	ITSN1	D	584	G	D584G	Likely benign	0	1	34	20
MUT:ITSN1:Pro157Ser	PROT:Q15811	ITSN1	P	157	S	P157S	Likely benign	0	1	34	31
MUT:ITSN1:Pro812Ala	PROT:Q15811	ITSN1	P	812	A	P812A	Likely benign	0	1	34	14
MUT:ITSN1:Pro903Leu	PROT:Q15811	ITSN1	P	903	L	P903L	Likely benign	0	1	34	1
MUT:ITSN1:Ser595Thr	PROT:Q15811	ITSN1	S	595	T	S595T	Likely benign	0	1	34	13
MUT:ITSN1:Thr1234Ala	PROT:Q15811	ITSN1	T	1234	A	T1234A	Likely benign	0	1	34	26
MUT:ITSN1:Thr1696Met	PROT:Q15811	ITSN1	T	1696	M	T1696M	Likely benign	0	1	34	51
MUT:ITSN1:Thr820Ala	PROT:Q15811	ITSN1	T	820	A	T820A	Likely benign	0	1	34	6
MUT:ITSN1:Thr861Met	PROT:Q15811	ITSN1	T	861	M	T861M	Likely benign	0	1	34	22
MUT:ITSN1:Thr897Met	PROT:Q15811	ITSN1	T	897	M	T897M	Likely benign	0	1	34	0
MUT:ITSN1:Tyr1470Cys	PROT:Q15811	ITSN1	Y	1470	C	Y1470C	Likely benign	0	1	34	175
MUT:ITSN1:Val743Leu	PROT:Q15811	ITSN1	V	743	L	V743L	Likely pathogenic	1	1	34	39
MUT:ITSN1:Val881Ile	PROT:Q15811	ITSN1	V	881	I	V881I	Benign	0	1	34	10
MUT:ITSN2:Ala1534Thr	PROT:Q9NZM3	ITSN2	A	1534	T	A1534T	Benign	0	1	25	411
MUT:ITSN2:Arg1554His	PROT:Q9NZM3	ITSN2	R	1554	H	R1554H	Likely benign	0	1	25	431
MUT:ITSN2:Arg441Lys	PROT:Q9NZM3	ITSN2	R	441	K	R441K	Benign	0	1	25	83
MUT:ITSN2:Arg961Trp	PROT:Q9NZM3	ITSN2	R	961	W	R961W	Likely benign	0	1	25	4
MUT:ITSN2:Glu1652Ala	PROT:Q9NZM3	ITSN2	E	1652	A	E1652A	Likely benign	0	1	25	529
MUT:ITSN2:Gly1569Arg	PROT:Q9NZM3	ITSN2	G	1569	R	G1569R	Likely benign	0	1	25	446
MUT:ITSN2:Gly893Ala	PROT:Q9NZM3	ITSN2	G	893	A	G893A	Benign/Likely benign	0	6	25	4
MUT:ITSN2:Ile1206Val	PROT:Q9NZM3	ITSN2	I	1206	V	I1206V	Benign	0	1	25	83
MUT:ITSN2:Lys1553Gln	PROT:Q9NZM3	ITSN2	K	1553	Q	K1553Q	Likely benign	0	1	25	430
MUT:ITSN2:Thr254Ala	PROT:Q9NZM3	ITSN2	T	254	A	T254A	Benign	0	1	25	24
MUT:ITSN2:Tyr1442Ser	PROT:Q9NZM3	ITSN2	Y	1442	S	Y1442S	Benign	0	1	25	319
MUT:IYD:Ala220Thr	PROT:Q6PHW0	IYD	A	220	T	A220T	Pathogenic/Likely pathogenic	1	1	1	121
MUT:IYD:Arg101Trp	PROT:Q6PHW0	IYD	R	101	W	R101W	Likely pathogenic	1	2	1	2
MUT:IYD:Arg246Gln	PROT:Q6PHW0	IYD	R	246	Q	R246Q	Benign	0	1	1	147
MUT:IYD:Arg279Cys	PROT:Q6PHW0	IYD	R	279	C	R279C	Pathogenic/Likely pathogenic	1	1	1	180
MUT:IYD:Asn108Ser	PROT:Q6PHW0	IYD	N	108	S	N108S	Benign	0	4	1	9
MUT:IYD:Asn179Lys	PROT:Q6PHW0	IYD	N	179	K	N179K	Likely benign	0	1	1	80
MUT:IYD:Ile116Thr	PROT:Q6PHW0	IYD	I	116	T	I116T	Likely pathogenic	1	1	1	17
MUT:IYD:Leu96Phe	PROT:Q6PHW0	IYD	L	96	F	L96F	Likely benign	0	1	1	3
MUT:JAGN1:Ala135Thr	PROT:Q8N5M9	JAGN1	A	135	T	A135T	Benign/Likely benign	0	1	3	33
MUT:JAGN1:Gln162Arg	PROT:Q8N5M9	JAGN1	Q	162	R	Q162R	Pathogenic	1	2	3	6
MUT:JAGN1:Ile82Val	PROT:Q8N5M9	JAGN1	I	82	V	I82V	Benign/Likely benign	0	1	3	40
MUT:JAGN1:Met1Val	PROT:Q8N5M9	JAGN1	M	1	V	M1V	Benign/Likely benign	0	1	3	14
MUT:JAK1:Ala634Asp	PROT:P23458	JAK1	A	634	D	A634D	Likely pathogenic	1	1	37	57
MUT:JAK1:His596Asp	PROT:P23458	JAK1	H	596	D	H596D	Pathogenic	1	1	37	37
MUT:JAK1:Ile878Val	PROT:P23458	JAK1	I	878	V	I878V	Likely benign	0	1	37	6
MUT:JAK1:Leu783Phe	PROT:P23458	JAK1	L	783	F	L783F	Likely pathogenic	1	1	37	15
MUT:JAK1:Ser703Ile	PROT:P23458	JAK1	S	703	I	S703I	Pathogenic	1	1	37	5
MUT:JAK1:Val584Met	PROT:P23458	JAK1	V	584	M	V584M	Likely benign	0	1	37	25
MUT:JARID2:Ala249Gly	PROT:Q92833	JARID2	A	249	G	A249G	Likely benign	0	1	29	40
MUT:JARID2:Ala271Thr	PROT:Q92833	JARID2	A	271	T	A271T	Likely benign	0	1	29	62
MUT:JARID2:Ala549Ser	PROT:Q92833	JARID2	A	549	S	A549S	Likely benign	0	1	29	1
MUT:JARID2:Ala564Thr	PROT:Q92833	JARID2	A	564	T	A564T	Likely benign	0	1	29	16
MUT:JARID2:Ala842Thr	PROT:Q92833	JARID2	A	842	T	A842T	Likely benign	0	1	29	3
MUT:JARID2:Arg1167Cys	PROT:Q92833	JARID2	R	1167	C	R1167C	Likely benign	0	1	29	7
MUT:JARID2:Arg1221Cys	PROT:Q92833	JARID2	R	1221	C	R1221C	Likely benign	0	1	29	6
MUT:JARID2:Arg326His	PROT:Q92833	JARID2	R	326	H	R326H	Likely benign	0	1	29	9
MUT:JARID2:Arg733Leu	PROT:Q92833	JARID2	R	733	L	R733L	Likely benign	0	1	29	6
MUT:JARID2:Arg753Cys	PROT:Q92833	JARID2	R	753	C	R753C	Likely benign	0	1	29	4
MUT:JARID2:Arg788Gln	PROT:Q92833	JARID2	R	788	Q	R788Q	Likely benign	0	1	29	5
MUT:JARID2:Asn405Ser	PROT:Q92833	JARID2	N	405	S	N405S	Likely benign	0	1	29	27
MUT:JARID2:Asp518Val	PROT:Q92833	JARID2	D	518	V	D518V	Likely benign	0	1	29	25
MUT:JARID2:Glu468Lys	PROT:Q92833	JARID2	E	468	K	E468K	Likely benign	0	1	29	13
MUT:JARID2:Glu742Gln	PROT:Q92833	JARID2	E	742	Q	E742Q	Likely benign	0	1	29	5
MUT:JARID2:Gly1122Arg	PROT:Q92833	JARID2	G	1122	R	G1122R	Likely benign	0	1	29	50
MUT:JARID2:Gly423Ala	PROT:Q92833	JARID2	G	423	A	G423A	Likely benign	0	1	29	32
MUT:JARID2:Gly423Trp	PROT:Q92833	JARID2	G	423	W	G423W	Likely benign	0	1	29	32
MUT:JARID2:Ile914Val	PROT:Q92833	JARID2	I	914	V	I914V	Likely benign	0	1	29	33
MUT:JARID2:Leu967Val	PROT:Q92833	JARID2	L	967	V	L967V	Likely benign	0	1	29	86
MUT:JARID2:Lys116Asn	PROT:Q92833	JARID2	K	116	N	K116N	Likely pathogenic	1	1	29	4
MUT:JARID2:Lys487Glu	PROT:Q92833	JARID2	K	487	E	K487E	Benign	0	1	29	6
MUT:JARID2:Lys636Arg	PROT:Q92833	JARID2	K	636	R	K636R	Likely benign	0	1	29	20
MUT:JARID2:Phe754Ser	PROT:Q92833	JARID2	F	754	S	F754S	Likely benign	0	1	29	3
MUT:JARID2:Pro1214Arg	PROT:Q92833	JARID2	P	1214	R	P1214R	Likely benign	0	1	29	1
MUT:JARID2:Pro490Leu	PROT:Q92833	JARID2	P	490	L	P490L	Likely benign	0	1	29	3
MUT:JARID2:Pro766His	PROT:Q92833	JARID2	P	766	H	P766H	Likely benign	0	1	29	9
MUT:JARID2:Ser295Leu	PROT:Q92833	JARID2	S	295	L	S295L	Likely benign	0	1	29	40
MUT:JARID2:Ser526Cys	PROT:Q92833	JARID2	S	526	C	S526C	Likely benign	0	1	29	22
MUT:JARID2:Thr503Met	PROT:Q92833	JARID2	T	503	M	T503M	Likely benign	0	1	29	10
MUT:JARID2:Val195Ile	PROT:Q92833	JARID2	V	195	I	V195I	Likely benign	0	1	29	14
MUT:JMJD1C:Ala272Thr	PROT:Q15652	JMJD1C	A	272	T	A272T	Benign	0	1	75	12
MUT:JMJD1C:Arg1023His	PROT:Q15652	JMJD1C	R	1023	H	R1023H	Likely benign	0	1	75	27
MUT:JMJD1C:Arg1072Cys	PROT:Q15652	JMJD1C	R	1072	C	R1072C	Likely benign	0	1	75	14
MUT:JMJD1C:Arg368Gln	PROT:Q15652	JMJD1C	R	368	Q	R368Q	Benign/Likely benign	0	1	75	5
MUT:JMJD1C:Asn1002His	PROT:Q15652	JMJD1C	N	1002	H	N1002H	Likely benign	0	1	75	14
MUT:JMJD1C:Asn1998Thr	PROT:Q15652	JMJD1C	N	1998	T	N1998T	Likely benign	0	1	75	7
MUT:JMJD1C:Asn371Ser	PROT:Q15652	JMJD1C	N	371	S	N371S	Likely benign	0	1	75	2
MUT:JMJD1C:Asp2400Glu	PROT:Q15652	JMJD1C	D	2400	E	D2400E	Benign	0	1	75	3
MUT:JMJD1C:Asp374His	PROT:Q15652	JMJD1C	D	374	H	D374H	Likely benign	0	1	75	1
MUT:JMJD1C:Asp515Gly	PROT:Q15652	JMJD1C	D	515	G	D515G	Likely benign	0	2	75	10
MUT:JMJD1C:Asp568Val	PROT:Q15652	JMJD1C	D	568	V	D568V	Likely benign	0	1	75	16
MUT:JMJD1C:Gln2035Pro	PROT:Q15652	JMJD1C	Q	2035	P	Q2035P	Likely benign	0	1	75	12
MUT:JMJD1C:Glu2038Gln	PROT:Q15652	JMJD1C	E	2038	Q	E2038Q	Likely benign	0	1	75	9
MUT:JMJD1C:Glu2531Lys	PROT:Q15652	JMJD1C	E	2531	K	E2531K	Likely benign	0	2	75	22
MUT:JMJD1C:Glu2535Asp	PROT:Q15652	JMJD1C	E	2535	D	E2535D	Benign	0	1	75	26
MUT:JMJD1C:Ile1523Phe	PROT:Q15652	JMJD1C	I	1523	F	I1523F	Likely benign	0	1	75	78
MUT:JMJD1C:Ile1603Thr	PROT:Q15652	JMJD1C	I	1603	T	I1603T	Likely benign	0	1	75	25
MUT:JMJD1C:Ile623Thr	PROT:Q15652	JMJD1C	I	623	T	I623T	Likely benign	0	2	75	1
MUT:JMJD1C:Leu1458Ser	PROT:Q15652	JMJD1C	L	1458	S	L1458S	Likely benign	0	1	75	13
MUT:JMJD1C:Lys1060Glu	PROT:Q15652	JMJD1C	K	1060	E	K1060E	Benign	0	1	75	2
MUT:JMJD1C:Lys1462Asn	PROT:Q15652	JMJD1C	K	1462	N	K1462N	Likely benign	0	2	75	17
MUT:JMJD1C:Lys2132Ile	PROT:Q15652	JMJD1C	K	2132	I	K2132I	Likely benign	0	2	75	32
MUT:JMJD1C:Lys637Arg	PROT:Q15652	JMJD1C	K	637	R	K637R	Benign	0	1	75	1
MUT:JMJD1C:Met1275Leu	PROT:Q15652	JMJD1C	M	1275	L	M1275L	Likely benign	0	1	75	7
MUT:JMJD1C:Met460Thr	PROT:Q15652	JMJD1C	M	460	T	M460T	Benign	0	1	75	30
MUT:JMJD1C:Met591Val	PROT:Q15652	JMJD1C	M	591	V	M591V	Benign	0	1	75	5
MUT:JMJD1C:Pro1980Leu	PROT:Q15652	JMJD1C	P	1980	L	P1980L	Benign	0	1	75	2
MUT:JMJD1C:Ser1429Leu	PROT:Q15652	JMJD1C	S	1429	L	S1429L	Likely benign	0	1	75	16
MUT:JMJD1C:Ser320Asn	PROT:Q15652	JMJD1C	S	320	N	S320N	Likely benign	0	1	75	0
MUT:JMJD1C:Ser464Thr	PROT:Q15652	JMJD1C	S	464	T	S464T	Benign	0	1	75	34
MUT:JMJD1C:Ser561Cys	PROT:Q15652	JMJD1C	S	561	C	S561C	Benign	0	1	75	9
MUT:JMJD1C:Thr1394Ser	PROT:Q15652	JMJD1C	T	1394	S	T1394S	Likely benign	0	1	75	51
MUT:JMJD1C:Thr516Ser	PROT:Q15652	JMJD1C	T	516	S	T516S	Benign	0	6	75	11
MUT:JMJD1C:Thr650Ile	PROT:Q15652	JMJD1C	T	650	I	T650I	Benign	0	1	75	2
MUT:JMJD1C:Val1575Ala	PROT:Q15652	JMJD1C	V	1575	A	V1575A	Likely benign	0	1	75	53
MUT:JMJD1C:Val19Asp	PROT:Q15652	JMJD1C	V	19	D	V19D	Likely benign	0	2	75	265
MUT:JPH1:Arg213Pro	PROT:Q9HDC5	JPH1	R	213	P	R213P	Benign	0	1	22	3
MUT:JPH1:Pro446Ser	PROT:Q9HDC5	JPH1	P	446	S	P446S	Likely benign	0	1	22	6
MUT:JPH1:Thr507Met	PROT:Q9HDC5	JPH1	T	507	M	T507M	Benign	0	1	22	46
MUT:JPH2:Ala396Thr	PROT:Q9BR39	JPH2	A	396	T	A396T	Benign	0	4	26	37
MUT:JPH2:Arg300Cys	PROT:Q9BR39	JPH2	R	300	C	R300C	Likely benign	0	1	26	6
MUT:JPH2:Asp274Asn	PROT:Q9BR39	JPH2	D	274	N	D274N	Benign/Likely benign	0	2	26	27
MUT:JPH2:Gly505Ser	PROT:Q9BR39	JPH2	G	505	S	G505S	Benign/Likely benign	0	2	26	3
MUT:JPH2:Gly591Arg	PROT:Q9BR39	JPH2	G	591	R	G591R	Likely benign	0	1	26	56
MUT:JPH2:Pro188Ser	PROT:Q9BR39	JPH2	P	188	S	P188S	Benign/Likely benign	0	4	26	4
MUT:JPH2:Pro191Arg	PROT:Q9BR39	JPH2	P	191	R	P191R	Benign/Likely benign	0	1	26	1
MUT:JPH2:Pro603Leu	PROT:Q9BR39	JPH2	P	603	L	P603L	Likely benign	0	1	26	44
MUT:JPH2:Ser101Arg	PROT:Q9BR39	JPH2	S	101	R	S101R	Pathogenic	1	1	26	40
MUT:JPH2:Ser165Phe	PROT:Q9BR39	JPH2	S	165	F	S165F	Pathogenic	1	1	26	0
MUT:JPH2:Thr161Lys	PROT:Q9BR39	JPH2	T	161	K	T161K	Pathogenic/Likely pathogenic	1	2	26	0
MUT:JPH2:Thr286Ala	PROT:Q9BR39	JPH2	T	286	A	T286A	Likely benign	0	1	26	20
MUT:JPH3:Ala154Pro	PROT:Q8WXH2	JPH3	A	154	P	A154P	Likely benign	0	1	2	297
MUT:JPH3:Ala274Val	PROT:Q8WXH2	JPH3	A	274	V	A274V	Likely benign	0	1	2	177
MUT:JPH3:Asp641Tyr	PROT:Q8WXH2	JPH3	D	641	Y	D641Y	Likely benign	0	1	2	69
MUT:JPH3:Gly136Ser	PROT:Q8WXH2	JPH3	G	136	S	G136S	Benign/Likely benign	0	3	2	315
MUT:JPH3:Gly345Ser	PROT:Q8WXH2	JPH3	G	345	S	G345S	Benign/Likely benign	0	1	2	106
MUT:JPH3:Leu704Ser	PROT:Q8WXH2	JPH3	L	704	S	L704S	Likely benign	0	1	2	6
MUT:JPH3:Pro580Thr	PROT:Q8WXH2	JPH3	P	580	T	P580T	Likely benign	0	1	2	129
MUT:JUP:Arg142His	PROT:P14923	JUP	R	142	H	R142H	Benign/Likely benign	0	3	58	1
MUT:JUP:Ile687Val	PROT:P14923	JUP	I	687	V	I687V	Benign/Likely benign	0	1	58	14
MUT:JUP:Met697Leu	PROT:P14923	JUP	M	697	L	M697L	Benign	0	3	58	4
MUT:KALRN:Ala1866Thr	PROT:O60229	KALRN	A	1866	T	A1866T	Likely benign	0	1	13	47
MUT:KALRN:Asn2973Ser	PROT:O60229	KALRN	N	2973	S	N2973S	Benign	0	1	13	571
MUT:KALRN:Glu2311Lys	PROT:O60229	KALRN	E	2311	K	E2311K	Likely benign	0	1	13	1
MUT:KALRN:Glu966Ala	PROT:O60229	KALRN	E	966	A	E966A	Likely benign	0	1	13	294
MUT:KALRN:Leu1646Phe	PROT:O60229	KALRN	L	1646	F	L1646F	Likely benign	0	1	13	68
MUT:KALRN:Thr1692Asn	PROT:O60229	KALRN	T	1692	N	T1692N	Likely benign	0	1	13	22
MUT:KANK1:Ala1258Ser	PROT:Q14678	KANK1	A	1258	S	A1258S	Likely benign	0	2	13	76
MUT:KANK1:Ala942Asp	PROT:Q14678	KANK1	A	942	D	A942D	Likely benign	0	1	13	392
MUT:KANK1:Arg368Gln	PROT:Q14678	KANK1	R	368	Q	R368Q	Likely benign	0	2	13	27
MUT:KANK1:Arg399Gln	PROT:Q14678	KANK1	R	399	Q	R399Q	Likely benign	0	2	13	58
MUT:KANK1:Asn1293Ser	PROT:Q14678	KANK1	N	1293	S	N1293S	Likely benign	0	1	13	41
MUT:KANK1:Asn901Ser	PROT:Q14678	KANK1	N	901	S	N901S	Benign	0	10	13	433
MUT:KANK1:Asp50Val	PROT:Q14678	KANK1	D	50	V	D50V	Benign/Likely benign	0	1	13	20
MUT:KANK1:Cys909Gly	PROT:Q14678	KANK1	C	909	G	C909G	Benign/Likely benign	0	2	13	425
MUT:KANK1:Gly189Ser	PROT:Q14678	KANK1	G	189	S	G189S	Benign/Likely benign	0	1	13	3
MUT:KANK1:His578Tyr	PROT:Q14678	KANK1	H	578	Y	H578Y	Likely benign	0	1	13	112
MUT:KANK1:Ile1079Met	PROT:Q14678	KANK1	I	1079	M	I1079M	Likely pathogenic	1	1	13	255
MUT:KANK1:Lys705Glu	PROT:Q14678	KANK1	K	705	E	K705E	Likely benign	0	1	13	239
MUT:KANK1:Lys832Asn	PROT:Q14678	KANK1	K	832	N	K832N	Likely benign	0	1	13	366
MUT:KANK1:Met663Thr	PROT:Q14678	KANK1	M	663	T	M663T	Likely benign	0	1	13	197
MUT:KANK1:Ser1331Cys	PROT:Q14678	KANK1	S	1331	C	S1331C	Benign	0	1	13	3
MUT:KANK1:Ser872Cys	PROT:Q14678	KANK1	S	872	C	S872C	Likely benign	0	1	13	406
MUT:KANK1:Val286Glu	PROT:Q14678	KANK1	V	286	E	V286E	Likely benign	0	2	13	20
MUT:KANK1:Val534Met	PROT:Q14678	KANK1	V	534	M	V534M	Likely benign	0	2	13	68
MUT:KANK2:Ala670Val	PROT:Q63ZY3	KANK2	A	670	V	A670V	Pathogenic	1	1	26	102
MUT:KANK2:Arg559Leu	PROT:Q63ZY3	KANK2	R	559	L	R559L	Benign/Likely benign	0	1	26	7
MUT:KANK2:Arg751Gln	PROT:Q63ZY3	KANK2	R	751	Q	R751Q	Likely benign	0	1	26	183
MUT:KANK2:Asn609Lys	PROT:Q63ZY3	KANK2	N	609	K	N609K	Likely benign	0	1	26	41
MUT:KANK2:Gln201Lys	PROT:Q63ZY3	KANK2	Q	201	K	Q201K	Likely benign	0	1	26	20
MUT:KANK2:Gly104Ala	PROT:Q63ZY3	KANK2	G	104	A	G104A	Likely benign	0	1	26	3
MUT:KANK2:Met838Val	PROT:Q63ZY3	KANK2	M	838	V	M838V	Likely benign	0	8	26	270
MUT:KANK2:Ser425Leu	PROT:Q63ZY3	KANK2	S	425	L	S425L	Likely benign	0	1	26	0
MUT:KANK2:Ser676Phe	PROT:Q63ZY3	KANK2	S	676	F	S676F	Pathogenic	1	1	26	108
MUT:KANK2:Thr557Ser	PROT:Q63ZY3	KANK2	T	557	S	T557S	Benign	0	1	26	5
MUT:KANK2:Tyr111Cys	PROT:Q63ZY3	KANK2	Y	111	C	Y111C	Likely benign	0	1	26	10
MUT:KANK2:Val4Ile	PROT:Q63ZY3	KANK2	V	4	I	V4I	Likely benign	0	1	26	44
MUT:KANSL2:Asp381Val	PROT:Q9H9L4	KANSL2	D	381	V	D381V	Likely benign	0	1	6	206
MUT:KAT6B:Ala1037Thr	PROT:Q8WYB5	KAT6B	A	1037	T	A1037T	Benign/Likely benign	0	1	21	39
MUT:KAT6B:Ala1217Ser	PROT:Q8WYB5	KAT6B	A	1217	S	A1217S	Benign/Likely benign	0	3	21	28
MUT:KAT6B:Ala1331Gly	PROT:Q8WYB5	KAT6B	A	1331	G	A1331G	Likely benign	0	1	21	28
MUT:KAT6B:Ala1483Pro	PROT:Q8WYB5	KAT6B	A	1483	P	A1483P	Benign	0	1	21	98
MUT:KAT6B:Ala1493Val	PROT:Q8WYB5	KAT6B	A	1493	V	A1493V	Benign/Likely benign	0	1	21	88
MUT:KAT6B:Ala1512Pro	PROT:Q8WYB5	KAT6B	A	1512	P	A1512P	Benign	0	1	21	69
MUT:KAT6B:Ala156Thr	PROT:Q8WYB5	KAT6B	A	156	T	A156T	Likely benign	0	1	21	67
MUT:KAT6B:Ala1847Val	PROT:Q8WYB5	KAT6B	A	1847	V	A1847V	Benign	0	1	21	86
MUT:KAT6B:Ala1902Thr	PROT:Q8WYB5	KAT6B	A	1902	T	A1902T	Likely benign	0	1	21	31
MUT:KAT6B:Ala1936Pro	PROT:Q8WYB5	KAT6B	A	1936	P	A1936P	Likely benign	0	1	21	3
MUT:KAT6B:Ala1936Ser	PROT:Q8WYB5	KAT6B	A	1936	S	A1936S	Benign/Likely benign	0	1	21	3
MUT:KAT6B:Ala1936Thr	PROT:Q8WYB5	KAT6B	A	1936	T	A1936T	Benign	0	1	21	3
MUT:KAT6B:Ala2050Val	PROT:Q8WYB5	KAT6B	A	2050	V	A2050V	Benign	0	1	21	117
MUT:KAT6B:Ala210Thr	PROT:Q8WYB5	KAT6B	A	210	T	A210T	Benign	0	1	21	13
MUT:KAT6B:Ala261Thr	PROT:Q8WYB5	KAT6B	A	261	T	A261T	Benign	0	1	21	38
MUT:KAT6B:Ala35Val	PROT:Q8WYB5	KAT6B	A	35	V	A35V	Benign	0	1	21	188
MUT:KAT6B:Ala977Thr	PROT:Q8WYB5	KAT6B	A	977	T	A977T	Likely benign	0	1	21	21
MUT:KAT6B:Arg1010Gln	PROT:Q8WYB5	KAT6B	R	1010	Q	R1010Q	Likely benign	0	1	21	12
MUT:KAT6B:Arg1010Trp	PROT:Q8WYB5	KAT6B	R	1010	W	R1010W	Benign/Likely benign	0	1	21	12
MUT:KAT6B:Arg1052Trp	PROT:Q8WYB5	KAT6B	R	1052	W	R1052W	Likely benign	0	1	21	54
MUT:KAT6B:Arg1137Ser	PROT:Q8WYB5	KAT6B	R	1137	S	R1137S	Benign	0	1	21	22
MUT:KAT6B:Arg1139Lys	PROT:Q8WYB5	KAT6B	R	1139	K	R1139K	Benign/Likely benign	0	1	21	24
MUT:KAT6B:Arg1254Gly	PROT:Q8WYB5	KAT6B	R	1254	G	R1254G	Likely benign	0	1	21	9
MUT:KAT6B:Arg1577His	PROT:Q8WYB5	KAT6B	R	1577	H	R1577H	Benign/Likely benign	0	1	21	4
MUT:KAT6B:Arg1612His	PROT:Q8WYB5	KAT6B	R	1612	H	R1612H	Benign/Likely benign	0	2	21	31
MUT:KAT6B:Arg1946Leu	PROT:Q8WYB5	KAT6B	R	1946	L	R1946L	Likely benign	0	1	21	13
MUT:KAT6B:Arg1957Gln	PROT:Q8WYB5	KAT6B	R	1957	Q	R1957Q	Likely benign	0	1	21	24
MUT:KAT6B:Arg209Gly	PROT:Q8WYB5	KAT6B	R	209	G	R209G	Likely benign	0	1	21	14
MUT:KAT6B:Arg227Cys	PROT:Q8WYB5	KAT6B	R	227	C	R227C	Benign/Likely benign	0	1	21	4
MUT:KAT6B:Arg227His	PROT:Q8WYB5	KAT6B	R	227	H	R227H	Likely benign	0	1	21	4
MUT:KAT6B:Arg463His	PROT:Q8WYB5	KAT6B	R	463	H	R463H	Benign	0	1	21	12
MUT:KAT6B:Arg570His	PROT:Q8WYB5	KAT6B	R	570	H	R570H	Likely benign	0	1	21	20
MUT:KAT6B:Arg596Gln	PROT:Q8WYB5	KAT6B	R	596	Q	R596Q	Likely benign	0	1	21	6
MUT:KAT6B:Arg871Gln	PROT:Q8WYB5	KAT6B	R	871	Q	R871Q	Benign	0	1	21	7
MUT:KAT6B:Arg871Trp	PROT:Q8WYB5	KAT6B	R	871	W	R871W	Likely benign	0	1	21	7
MUT:KAT6B:Arg960Trp	PROT:Q8WYB5	KAT6B	R	960	W	R960W	Benign/Likely benign	0	1	21	38
MUT:KAT6B:Arg986Ser	PROT:Q8WYB5	KAT6B	R	986	S	R986S	Likely benign	0	1	21	12
MUT:KAT6B:Asn104Ser	PROT:Q8WYB5	KAT6B	N	104	S	N104S	Likely benign	0	1	21	119
MUT:KAT6B:Asn2014Ser	PROT:Q8WYB5	KAT6B	N	2014	S	N2014S	Likely benign	0	1	21	81
MUT:KAT6B:Asn832Ile	PROT:Q8WYB5	KAT6B	N	832	I	N832I	Likely benign	0	1	21	46
MUT:KAT6B:Asp1346Tyr	PROT:Q8WYB5	KAT6B	D	1346	Y	D1346Y	Benign/Likely benign	0	2	21	43
MUT:KAT6B:Asp1381His	PROT:Q8WYB5	KAT6B	D	1381	H	D1381H	Benign/Likely benign	0	2	21	78
MUT:KAT6B:Asp1427Tyr	PROT:Q8WYB5	KAT6B	D	1427	Y	D1427Y	Benign/Likely benign	0	1	21	124
MUT:KAT6B:Asp283Gly	PROT:Q8WYB5	KAT6B	D	283	G	D283G	Likely benign	0	1	21	60
MUT:KAT6B:Asp43Glu	PROT:Q8WYB5	KAT6B	D	43	E	D43E	Likely benign	0	2	21	180
MUT:KAT6B:Asp661Glu	PROT:Q8WYB5	KAT6B	D	661	E	D661E	Likely benign	0	1	21	9
MUT:KAT6B:Asp983Glu	PROT:Q8WYB5	KAT6B	D	983	E	D983E	Likely benign	0	1	21	15
MUT:KAT6B:Cys1754Gly	PROT:Q8WYB5	KAT6B	C	1754	G	C1754G	Likely benign	0	1	21	173
MUT:KAT6B:Gln1456Glu	PROT:Q8WYB5	KAT6B	Q	1456	E	Q1456E	Benign	0	1	21	125
MUT:KAT6B:Gln1465Lys	PROT:Q8WYB5	KAT6B	Q	1465	K	Q1465K	Likely benign	0	1	21	116
MUT:KAT6B:Gln2031Arg	PROT:Q8WYB5	KAT6B	Q	2031	R	Q2031R	Likely benign	0	1	21	98
MUT:KAT6B:Gln508Arg	PROT:Q8WYB5	KAT6B	Q	508	R	Q508R	Likely benign	0	1	21	57
MUT:KAT6B:Glu1086Asp	PROT:Q8WYB5	KAT6B	E	1086	D	E1086D	Likely benign	0	2	21	29
MUT:KAT6B:Glu1179Ala	PROT:Q8WYB5	KAT6B	E	1179	A	E1179A	Likely benign	0	1	21	64
MUT:KAT6B:Glu1182Lys	PROT:Q8WYB5	KAT6B	E	1182	K	E1182K	Likely benign	0	1	21	63
MUT:KAT6B:Glu1233Lys	PROT:Q8WYB5	KAT6B	E	1233	K	E1233K	Benign/Likely benign	0	1	21	12
MUT:KAT6B:Glu1351Lys	PROT:Q8WYB5	KAT6B	E	1351	K	E1351K	Likely benign	0	1	21	48
MUT:KAT6B:Glu1367Gln	PROT:Q8WYB5	KAT6B	E	1367	Q	E1367Q	Benign	0	1	21	64
MUT:KAT6B:Glu1429Lys	PROT:Q8WYB5	KAT6B	E	1429	K	E1429K	Benign	0	2	21	126
MUT:KAT6B:Glu1438Lys	PROT:Q8WYB5	KAT6B	E	1438	K	E1438K	Benign/Likely benign	0	1	21	135
MUT:KAT6B:Glu1497Gly	PROT:Q8WYB5	KAT6B	E	1497	G	E1497G	Likely benign	0	1	21	84
MUT:KAT6B:Glu1554Lys	PROT:Q8WYB5	KAT6B	E	1554	K	E1554K	Benign	0	2	21	27
MUT:KAT6B:Glu576Ala	PROT:Q8WYB5	KAT6B	E	576	A	E576A	Likely benign	0	1	21	14
MUT:KAT6B:Glu576Lys	PROT:Q8WYB5	KAT6B	E	576	K	E576K	Likely benign	0	1	21	14
MUT:KAT6B:Glu708Asp	PROT:Q8WYB5	KAT6B	E	708	D	E708D	Benign	0	1	21	56
MUT:KAT6B:Glu912Lys	PROT:Q8WYB5	KAT6B	E	912	K	E912K	Likely benign	0	1	21	23
MUT:KAT6B:Gly1134Ser	PROT:Q8WYB5	KAT6B	G	1134	S	G1134S	Benign/Likely benign	0	1	21	19
MUT:KAT6B:Gly1906Ser	PROT:Q8WYB5	KAT6B	G	1906	S	G1906S	Likely benign	0	1	21	27
MUT:KAT6B:Gly2029Asp	PROT:Q8WYB5	KAT6B	G	2029	D	G2029D	Likely benign	0	1	21	96
MUT:KAT6B:Gly2044Ser	PROT:Q8WYB5	KAT6B	G	2044	S	G2044S	Benign	0	1	21	111
MUT:KAT6B:Gly2055Ser	PROT:Q8WYB5	KAT6B	G	2055	S	G2055S	Likely benign	0	1	21	122
MUT:KAT6B:Gly294Glu	PROT:Q8WYB5	KAT6B	G	294	E	G294E	Likely benign	0	1	21	61
MUT:KAT6B:Gly555Arg	PROT:Q8WYB5	KAT6B	G	555	R	G555R	Benign/Likely benign	0	2	21	35
MUT:KAT6B:His1433Leu	PROT:Q8WYB5	KAT6B	H	1433	L	H1433L	Likely pathogenic	1	1	21	130
MUT:KAT6B:His1836Arg	PROT:Q8WYB5	KAT6B	H	1836	R	H1836R	Likely benign	0	1	21	97
MUT:KAT6B:His549Pro	PROT:Q8WYB5	KAT6B	H	549	P	H549P	Likely benign	0	1	21	41
MUT:KAT6B:His562Tyr	PROT:Q8WYB5	KAT6B	H	562	Y	H562Y	Benign	0	1	21	28
MUT:KAT6B:His917Arg	PROT:Q8WYB5	KAT6B	H	917	R	H917R	Likely benign	0	1	21	28
MUT:KAT6B:Ile1106Val	PROT:Q8WYB5	KAT6B	I	1106	V	I1106V	Benign	0	1	21	9
MUT:KAT6B:Ile1178Thr	PROT:Q8WYB5	KAT6B	I	1178	T	I1178T	Benign/Likely benign	0	1	21	63
MUT:KAT6B:Ile1537Val	PROT:Q8WYB5	KAT6B	I	1537	V	I1537V	Benign	0	1	21	44
MUT:KAT6B:Ile1917Val	PROT:Q8WYB5	KAT6B	I	1917	V	I1917V	Benign/Likely benign	0	1	21	16
MUT:KAT6B:Ile267Val	PROT:Q8WYB5	KAT6B	I	267	V	I267V	Benign	0	1	21	44
MUT:KAT6B:Ile342Thr	PROT:Q8WYB5	KAT6B	I	342	T	I342T	Benign/Likely benign	0	2	21	13
MUT:KAT6B:Ile413Thr	PROT:Q8WYB5	KAT6B	I	413	T	I413T	Likely pathogenic	1	1	21	11
MUT:KAT6B:Ile598Leu	PROT:Q8WYB5	KAT6B	I	598	L	I598L	Benign	0	1	21	8
MUT:KAT6B:Ile617Leu	PROT:Q8WYB5	KAT6B	I	617	L	I617L	Likely benign	0	1	21	27
MUT:KAT6B:Ile617Met	PROT:Q8WYB5	KAT6B	I	617	M	I617M	Likely benign	0	1	21	27
MUT:KAT6B:Ile670Val	PROT:Q8WYB5	KAT6B	I	670	V	I670V	Benign	0	2	21	18
MUT:KAT6B:Leu1046Trp	PROT:Q8WYB5	KAT6B	L	1046	W	L1046W	Benign	0	1	21	48
MUT:KAT6B:Leu1319Phe	PROT:Q8WYB5	KAT6B	L	1319	F	L1319F	Benign/Likely benign	0	2	21	16
MUT:KAT6B:Leu1462Ile	PROT:Q8WYB5	KAT6B	L	1462	I	L1462I	Benign/Likely benign	0	1	21	119
MUT:KAT6B:Leu1481Val	PROT:Q8WYB5	KAT6B	L	1481	V	L1481V	Benign	0	1	21	100
MUT:KAT6B:Leu1588Phe	PROT:Q8WYB5	KAT6B	L	1588	F	L1588F	Likely benign	0	1	21	7
MUT:KAT6B:Leu945Phe	PROT:Q8WYB5	KAT6B	L	945	F	L945F	Likely benign	0	1	21	53
MUT:KAT6B:Lys1243Arg	PROT:Q8WYB5	KAT6B	K	1243	R	K1243R	Benign	0	1	21	2
MUT:KAT6B:Lys1243Asn	PROT:Q8WYB5	KAT6B	K	1243	N	K1243N	Benign/Likely benign	0	2	21	2
MUT:KAT6B:Lys1928Arg	PROT:Q8WYB5	KAT6B	K	1928	R	K1928R	Likely benign	0	1	21	5
MUT:KAT6B:Lys330Arg	PROT:Q8WYB5	KAT6B	K	330	R	K330R	Likely benign	0	1	21	25
MUT:KAT6B:Met1224Lys	PROT:Q8WYB5	KAT6B	M	1224	K	M1224K	Benign	0	1	21	21
MUT:KAT6B:Met1475Val	PROT:Q8WYB5	KAT6B	M	1475	V	M1475V	Benign	0	1	21	106
MUT:KAT6B:Met1Val	PROT:Q8WYB5	KAT6B	M	1	V	M1V	Likely pathogenic	1	1	21	222
MUT:KAT6B:Met2038Thr	PROT:Q8WYB5	KAT6B	M	2038	T	M2038T	Likely benign	0	1	21	105
MUT:KAT6B:Met2047Ile	PROT:Q8WYB5	KAT6B	M	2047	I	M2047I	Likely benign	0	1	21	114
MUT:KAT6B:Met2057Ile	PROT:Q8WYB5	KAT6B	M	2057	I	M2057I	Likely benign	0	1	21	124
MUT:KAT6B:Met2071Val	PROT:Q8WYB5	KAT6B	M	2071	V	M2071V	Likely benign	0	1	21	138
MUT:KAT6B:Phe1459Ser	PROT:Q8WYB5	KAT6B	F	1459	S	F1459S	Benign	0	1	21	122
MUT:KAT6B:Phe191Leu	PROT:Q8WYB5	KAT6B	F	191	L	F191L	Likely benign	0	1	21	32
MUT:KAT6B:Phe587Leu	PROT:Q8WYB5	KAT6B	F	587	L	F587L	Likely benign	0	1	21	3
MUT:KAT6B:Pro1036Thr	PROT:Q8WYB5	KAT6B	P	1036	T	P1036T	Benign	0	1	21	38
MUT:KAT6B:Pro1049Leu	PROT:Q8WYB5	KAT6B	P	1049	L	P1049L	Benign	0	1	21	51
MUT:KAT6B:Pro1283Ala	PROT:Q8WYB5	KAT6B	P	1283	A	P1283A	Benign/Likely benign	0	1	21	4
MUT:KAT6B:Pro1466Arg	PROT:Q8WYB5	KAT6B	P	1466	R	P1466R	Benign	0	1	21	115
MUT:KAT6B:Pro1496Thr	PROT:Q8WYB5	KAT6B	P	1496	T	P1496T	Benign/Likely benign	0	1	21	85
MUT:KAT6B:Pro1760Leu	PROT:Q8WYB5	KAT6B	P	1760	L	P1760L	Likely benign	0	1	21	173
MUT:KAT6B:Pro1778Arg	PROT:Q8WYB5	KAT6B	P	1778	R	P1778R	Likely benign	0	1	21	155
MUT:KAT6B:Pro1887Leu	PROT:Q8WYB5	KAT6B	P	1887	L	P1887L	Likely benign	0	1	21	46
MUT:KAT6B:Pro2051Arg	PROT:Q8WYB5	KAT6B	P	2051	R	P2051R	Likely benign	0	1	21	118
MUT:KAT6B:Pro208Ser	PROT:Q8WYB5	KAT6B	P	208	S	P208S	Likely benign	0	1	21	15
MUT:KAT6B:Pro490Ser	PROT:Q8WYB5	KAT6B	P	490	S	P490S	Benign/Likely benign	0	2	21	39
MUT:KAT6B:Ser1041Leu	PROT:Q8WYB5	KAT6B	S	1041	L	S1041L	Benign/Likely benign	0	1	21	43
MUT:KAT6B:Ser1109Phe	PROT:Q8WYB5	KAT6B	S	1109	F	S1109F	Likely benign	0	1	21	6
MUT:KAT6B:Ser1229Gly	PROT:Q8WYB5	KAT6B	S	1229	G	S1229G	Benign	0	1	21	16
MUT:KAT6B:Ser1235Asn	PROT:Q8WYB5	KAT6B	S	1235	N	S1235N	Benign	0	1	21	10
MUT:KAT6B:Ser1552Arg	PROT:Q8WYB5	KAT6B	S	1552	R	S1552R	Benign/Likely benign	0	1	21	29
MUT:KAT6B:Ser1553Cys	PROT:Q8WYB5	KAT6B	S	1553	C	S1553C	Benign	0	1	21	28
MUT:KAT6B:Ser1665Gly	PROT:Q8WYB5	KAT6B	S	1665	G	S1665G	Likely pathogenic	1	1	21	84
MUT:KAT6B:Ser1668Gly	PROT:Q8WYB5	KAT6B	S	1668	G	S1668G	Likely pathogenic	1	1	21	87
MUT:KAT6B:Ser1672Gly	PROT:Q8WYB5	KAT6B	S	1672	G	S1672G	Likely pathogenic	1	1	21	91
MUT:KAT6B:Ser1699Ala	PROT:Q8WYB5	KAT6B	S	1699	A	S1699A	Likely benign	0	1	21	118
MUT:KAT6B:Ser1731Thr	PROT:Q8WYB5	KAT6B	S	1731	T	S1731T	Likely benign	0	1	21	150
MUT:KAT6B:Ser1739Asn	PROT:Q8WYB5	KAT6B	S	1739	N	S1739N	Likely benign	0	1	21	158
MUT:KAT6B:Ser1788Arg	PROT:Q8WYB5	KAT6B	S	1788	R	S1788R	Likely benign	0	1	21	145
MUT:KAT6B:Ser1919Asn	PROT:Q8WYB5	KAT6B	S	1919	N	S1919N	Benign	0	1	21	14
MUT:KAT6B:Ser1941Leu	PROT:Q8WYB5	KAT6B	S	1941	L	S1941L	Likely benign	0	1	21	8
MUT:KAT6B:Ser1998Pro	PROT:Q8WYB5	KAT6B	S	1998	P	S1998P	Likely benign	0	1	21	65
MUT:KAT6B:Ser290Cys	PROT:Q8WYB5	KAT6B	S	290	C	S290C	Likely benign	0	1	21	65
MUT:KAT6B:Ser358Asn	PROT:Q8WYB5	KAT6B	S	358	N	S358N	Likely benign	0	1	21	3
MUT:KAT6B:Ser522Tyr	PROT:Q8WYB5	KAT6B	S	522	Y	S522Y	Likely benign	0	2	21	68
MUT:KAT6B:Ser523Cys	PROT:Q8WYB5	KAT6B	S	523	C	S523C	Likely benign	0	1	21	67
MUT:KAT6B:Ser527Arg	PROT:Q8WYB5	KAT6B	S	527	R	S527R	Benign/Likely benign	0	2	21	63
MUT:KAT6B:Ser984Cys	PROT:Q8WYB5	KAT6B	S	984	C	S984C	Benign	0	1	21	14
MUT:KAT6B:Thr1152Arg	PROT:Q8WYB5	KAT6B	T	1152	R	T1152R	Likely benign	0	1	21	37
MUT:KAT6B:Thr1397Arg	PROT:Q8WYB5	KAT6B	T	1397	R	T1397R	Likely benign	0	1	21	94
MUT:KAT6B:Thr1525Ala	PROT:Q8WYB5	KAT6B	T	1525	A	T1525A	Benign	0	1	21	56
MUT:KAT6B:Thr1576Asn	PROT:Q8WYB5	KAT6B	T	1576	N	T1576N	Benign/Likely benign	0	1	21	5
MUT:KAT6B:Thr1676Ser	PROT:Q8WYB5	KAT6B	T	1676	S	T1676S	Likely benign	0	1	21	95
MUT:KAT6B:Thr1738Ser	PROT:Q8WYB5	KAT6B	T	1738	S	T1738S	Benign	0	1	21	157
MUT:KAT6B:Thr1826Ala	PROT:Q8WYB5	KAT6B	T	1826	A	T1826A	Likely benign	0	1	21	107
MUT:KAT6B:Thr1915Ile	PROT:Q8WYB5	KAT6B	T	1915	I	T1915I	Likely benign	0	1	21	18
MUT:KAT6B:Thr514Ala	PROT:Q8WYB5	KAT6B	T	514	A	T514A	Benign/Likely benign	0	1	21	63
MUT:KAT6B:Thr552Ala	PROT:Q8WYB5	KAT6B	T	552	A	T552A	Benign	0	2	21	38
MUT:KAT6B:Thr654Ala	PROT:Q8WYB5	KAT6B	T	654	A	T654A	Likely benign	0	1	21	2
MUT:KAT6B:Tyr176Cys	PROT:Q8WYB5	KAT6B	Y	176	C	Y176C	Benign	0	1	21	47
MUT:KAT6B:Tyr1808Cys	PROT:Q8WYB5	KAT6B	Y	1808	C	Y1808C	Likely benign	0	1	21	125
MUT:KAT6B:Tyr1944Cys	PROT:Q8WYB5	KAT6B	Y	1944	C	Y1944C	Likely benign	0	1	21	11
MUT:KAT6B:Tyr637Phe	PROT:Q8WYB5	KAT6B	Y	637	F	Y637F	Likely benign	0	1	21	15
MUT:KAT6B:Tyr757Cys	PROT:Q8WYB5	KAT6B	Y	757	C	Y757C	Benign	0	1	21	105
MUT:KAT6B:Tyr915Cys	PROT:Q8WYB5	KAT6B	Y	915	C	Y915C	Benign/Likely benign	0	1	21	26
MUT:KAT6B:Val1247Ala	PROT:Q8WYB5	KAT6B	V	1247	A	V1247A	Likely benign	0	1	21	2
MUT:KAT6B:Val1464Met	PROT:Q8WYB5	KAT6B	V	1464	M	V1464M	Benign/Likely benign	0	1	21	117
MUT:KAT6B:Val1479Ile	PROT:Q8WYB5	KAT6B	V	1479	I	V1479I	Benign/Likely benign	0	1	21	102
MUT:KAT6B:Val1499Ile	PROT:Q8WYB5	KAT6B	V	1499	I	V1499I	Benign	0	1	21	82
MUT:KAT6B:Val1545Ile	PROT:Q8WYB5	KAT6B	V	1545	I	V1545I	Benign/Likely benign	0	2	21	36
MUT:KAT6B:Val1611Ile	PROT:Q8WYB5	KAT6B	V	1611	I	V1611I	Likely benign	0	1	21	30
MUT:KAT6B:Val198Leu	PROT:Q8WYB5	KAT6B	V	198	L	V198L	Benign	0	1	21	25
MUT:KAT6B:Val681Glu	PROT:Q8WYB5	KAT6B	V	681	E	V681E	Benign/Likely benign	0	1	21	29
MUT:KAT6B:Val695Ala	PROT:Q8WYB5	KAT6B	V	695	A	V695A	Benign	0	1	21	43
MUT:KAT6B:Val909Ile	PROT:Q8WYB5	KAT6B	V	909	I	V909I	Likely benign	0	1	21	20
MUT:KAT8:Arg140Cys	PROT:Q9H7Z6	KAT8	R	140	C	R140C	Pathogenic	1	1	23	14
MUT:KAT8:Arg98Gln	PROT:Q9H7Z6	KAT8	R	98	Q	R98Q	Pathogenic	1	1	23	8
MUT:KAT8:Gly39Ser	PROT:Q9H7Z6	KAT8	G	39	S	G39S	Likely benign	0	1	23	2
MUT:KAT8:His92Arg	PROT:Q9H7Z6	KAT8	H	92	R	H92R	Pathogenic	1	1	23	2
MUT:KAT8:Lys175Glu	PROT:Q9H7Z6	KAT8	K	175	E	K175E	Pathogenic	1	1	23	0
MUT:KAT8:Lys175Thr	PROT:Q9H7Z6	KAT8	K	175	T	K175T	Likely pathogenic	1	1	23	0
MUT:KAT8:Lys181Asn	PROT:Q9H7Z6	KAT8	K	181	N	K181N	Pathogenic	1	1	23	4
MUT:KAT8:Met217Leu	PROT:Q9H7Z6	KAT8	M	217	L	M217L	Likely pathogenic	1	1	23	40
MUT:KAT8:Met405Thr	PROT:Q9H7Z6	KAT8	M	405	T	M405T	Likely benign	0	1	23	5
MUT:KAT8:Tyr241Cys	PROT:Q9H7Z6	KAT8	Y	241	C	Y241C	Likely benign	0	1	23	33
MUT:KAT8:Tyr90Cys	PROT:Q9H7Z6	KAT8	Y	90	C	Y90C	Likely pathogenic	1	1	23	0
MUT:KATNB1:Arg263Gln	PROT:Q9BVA0	KATNB1	R	263	Q	R263Q	Likely benign	0	1	12	74
MUT:KATNB1:Arg313Gln	PROT:Q9BVA0	KATNB1	R	313	Q	R313Q	Likely benign	0	1	12	24
MUT:KATNB1:Arg339Trp	PROT:Q9BVA0	KATNB1	R	339	W	R339W	Likely benign	0	1	12	2
MUT:KATNB1:Glu380Lys	PROT:Q9BVA0	KATNB1	E	380	K	E380K	Likely benign	0	1	12	2
MUT:KATNB1:Gly33Trp	PROT:Q9BVA0	KATNB1	G	33	W	G33W	Pathogenic	1	1	12	304
MUT:KATNB1:Gly628Ser	PROT:Q9BVA0	KATNB1	G	628	S	G628S	Likely benign	0	1	12	58
MUT:KATNB1:His640Arg	PROT:Q9BVA0	KATNB1	H	640	R	H640R	Likely benign	0	1	12	70
MUT:KATNB1:Leu322Val	PROT:Q9BVA0	KATNB1	L	322	V	L322V	Likely benign	0	1	12	15
MUT:KATNB1:Leu540Arg	PROT:Q9BVA0	KATNB1	L	540	R	L540R	Pathogenic	1	1	12	25
MUT:KATNB1:Met1Val	PROT:Q9BVA0	KATNB1	M	1	V	M1V	Pathogenic	1	1	12	336
MUT:KATNB1:Met488Thr	PROT:Q9BVA0	KATNB1	M	488	T	M488T	Likely benign	0	1	12	22
MUT:KATNB1:Phe403Leu	PROT:Q9BVA0	KATNB1	F	403	L	F403L	Likely benign	0	1	12	3
MUT:KATNB1:Pro452Ser	PROT:Q9BVA0	KATNB1	P	452	S	P452S	Likely benign	0	1	12	14
MUT:KATNB1:Pro4Ser	PROT:Q9BVA0	KATNB1	P	4	S	P4S	Likely benign	0	1	12	333
MUT:KATNB1:Ser535Leu	PROT:Q9BVA0	KATNB1	S	535	L	S535L	Pathogenic	1	1	12	30
MUT:KATNB1:Thr73Ala	PROT:Q9BVA0	KATNB1	T	73	A	T73A	Likely benign	0	1	12	264
MUT:KATNB1:Val483Ala	PROT:Q9BVA0	KATNB1	V	483	A	V483A	Benign	0	1	12	17
MUT:KATNIP:Ala1218Thr	PROT:O60303	KATNIP	A	1218	T	A1218T	Likely benign	0	1	15	303
MUT:KATNIP:Ala1240Val	PROT:O60303	KATNIP	A	1240	V	A1240V	Benign/Likely benign	0	9	15	325
MUT:KATNIP:Arg1184Trp	PROT:O60303	KATNIP	R	1184	W	R1184W	Likely benign	0	1	15	269
MUT:KATNIP:Arg1368Gln	PROT:O60303	KATNIP	R	1368	Q	R1368Q	Benign/Likely benign	0	6	15	453
MUT:KATNIP:Arg1616Trp	PROT:O60303	KATNIP	R	1616	W	R1616W	Likely benign	0	1	15	701
MUT:KATNIP:Asn1215Asp	PROT:O60303	KATNIP	N	1215	D	N1215D	Benign	0	1	15	300
MUT:KATNIP:Asn172Ser	PROT:O60303	KATNIP	N	172	S	N172S	Benign	0	10	15	13
MUT:KATNIP:Asp339Val	PROT:O60303	KATNIP	D	339	V	D339V	Benign	0	1	15	41
MUT:KATNIP:Gln1370Arg	PROT:O60303	KATNIP	Q	1370	R	Q1370R	Likely benign	0	1	15	455
MUT:KATNIP:Gln674Pro	PROT:O60303	KATNIP	Q	674	P	Q674P	Benign	0	2	15	14
MUT:KATNIP:Glu1183Asp	PROT:O60303	KATNIP	E	1183	D	E1183D	Likely benign	0	1	15	268
MUT:KATNIP:Glu1260Lys	PROT:O60303	KATNIP	E	1260	K	E1260K	Benign	0	1	15	345
MUT:KATNIP:Glu1305Lys	PROT:O60303	KATNIP	E	1305	K	E1305K	Benign/Likely benign	0	1	15	390
MUT:KATNIP:Glu1426Lys	PROT:O60303	KATNIP	E	1426	K	E1426K	Benign	0	1	15	511
MUT:KATNIP:Glu627Lys	PROT:O60303	KATNIP	E	627	K	E627K	Benign/Likely benign	0	1	15	33
MUT:KATNIP:Gly1325Arg	PROT:O60303	KATNIP	G	1325	R	G1325R	Likely pathogenic	1	1	15	410
MUT:KATNIP:Lys823Glu	PROT:O60303	KATNIP	K	823	E	K823E	Likely benign	0	1	15	33
MUT:KATNIP:Met1582Thr	PROT:O60303	KATNIP	M	1582	T	M1582T	Likely benign	0	1	15	667
MUT:KATNIP:Thr751Ile	PROT:O60303	KATNIP	T	751	I	T751I	Benign	0	1	15	26
MUT:KATNIP:Val452Ile	PROT:O60303	KATNIP	V	452	I	V452I	Benign	0	3	15	8
MUT:KCNA3:Ala357Val	PROT:P22001	KCNA3	A	357	V	A357V	Likely pathogenic	1	1	10	21
MUT:KCNA3:Ala361Thr	PROT:P22001	KCNA3	A	361	T	A361T	Likely pathogenic	1	1	10	17
MUT:KCNA3:Gly456Arg	PROT:P22001	KCNA3	G	456	R	G456R	Likely pathogenic	1	1	10	55
MUT:KCNA3:Gly468Arg	PROT:P22001	KCNA3	G	468	R	G468R	Likely pathogenic	1	1	10	43
MUT:KCNA3:Gly468Phe	PROT:P22001	KCNA3	G	468	F	G468F	Likely pathogenic	1	1	10	43
MUT:KCNA3:Gly468Val	PROT:P22001	KCNA3	G	468	V	G468V	Likely pathogenic	1	1	10	43
MUT:KCNA3:Ile431Asn	PROT:P22001	KCNA3	I	431	N	I431N	Likely pathogenic	1	1	10	53
MUT:KCNA3:Ile455Val	PROT:P22001	KCNA3	I	455	V	I455V	Likely pathogenic	1	1	10	56
MUT:KCNA3:Pro11Arg	PROT:P22001	KCNA3	P	11	R	P11R	Likely pathogenic	1	1	10	109
MUT:KCNA3:Pro477His	PROT:P22001	KCNA3	P	477	H	P477H	Likely pathogenic	1	2	10	34
MUT:KCNA3:Pro51Ser	PROT:P22001	KCNA3	P	51	S	P51S	Likely benign	0	1	10	69
MUT:KCNA3:Ser282Leu	PROT:P22001	KCNA3	S	282	L	S282L	Likely benign	0	1	10	96
MUT:KCNA3:Ser525Asn	PROT:P22001	KCNA3	S	525	N	S525N	Likely pathogenic	1	1	10	1
MUT:KCNA3:Thr443Ile	PROT:P22001	KCNA3	T	443	I	T443I	Likely pathogenic	1	2	10	65
MUT:KCNA3:Tyr487Cys	PROT:P22001	KCNA3	Y	487	C	Y487C	Likely pathogenic	1	1	10	24
MUT:KCNA3:Val460Met	PROT:P22001	KCNA3	V	460	M	V460M	Likely pathogenic	1	1	10	51
MUT:KCNA3:Val478Met	PROT:P22001	KCNA3	V	478	M	V478M	Likely pathogenic	1	1	10	33
MUT:KCNA3:Val56Leu	PROT:P22001	KCNA3	V	56	L	V56L	Likely benign	0	1	10	64
MUT:KCNA5:Ala111Val	PROT:P22460	KCNA5	A	111	V	A111V	Likely benign	0	1	5	49
MUT:KCNA5:Ala251Thr	PROT:P22460	KCNA5	A	251	T	A251T	Benign/Likely benign	0	1	5	161
MUT:KCNA5:Ala287Val	PROT:P22460	KCNA5	A	287	V	A287V	Likely benign	0	1	5	125
MUT:KCNA5:Ala29Asp	PROT:P22460	KCNA5	A	29	D	A29D	Likely benign	0	1	5	33
MUT:KCNA5:Ala321Thr	PROT:P22460	KCNA5	A	321	T	A321T	Likely benign	0	1	5	91
MUT:KCNA5:Glu48Gly	PROT:P22460	KCNA5	E	48	G	E48G	Pathogenic	1	1	5	14
MUT:KCNA5:Glu610Lys	PROT:P22460	KCNA5	E	610	K	E610K	Pathogenic	1	1	5	18
MUT:KCNA5:Gly31Val	PROT:P22460	KCNA5	G	31	V	G31V	Benign/Likely benign	0	2	5	31
MUT:KCNA5:Gly384Arg	PROT:P22460	KCNA5	G	384	R	G384R	Benign/Likely benign	0	1	5	28
MUT:KCNA5:Gly74Glu	PROT:P22460	KCNA5	G	74	E	G74E	Likely benign	0	1	5	12
MUT:KCNA5:Pro310Leu	PROT:P22460	KCNA5	P	310	L	P310L	Benign/Likely benign	0	2	5	102
MUT:KCNA5:Pro77Ser	PROT:P22460	KCNA5	P	77	S	P77S	Benign/Likely benign	0	2	5	15
MUT:KCNA6:Arg490Lys	PROT:P17658	KCNA6	R	490	K	R490K	Likely benign	0	1	2	134
MUT:KCNA6:Pro216Ser	PROT:P17658	KCNA6	P	216	S	P216S	Likely benign	0	1	2	140
MUT:KCNAB2:Ala42Val	PROT:Q13303	KCNAB2	A	42	V	A42V	Likely benign	0	4	16	2
MUT:KCNAB2:Arg41Gln	PROT:Q13303	KCNAB2	R	41	Q	R41Q	Likely benign	0	1	16	3
MUT:KCNAB2:Gln35His	PROT:Q13303	KCNAB2	Q	35	H	Q35H	Likely benign	0	1	16	4
MUT:KCNAB2:Thr5Met	PROT:Q13303	KCNAB2	T	5	M	T5M	Likely benign	0	1	16	1
MUT:KCNB1:Ala169Thr	PROT:Q14721	KCNB1	A	169	T	A169T	Likely benign	0	1	14	41
MUT:KCNB1:Ala264Thr	PROT:Q14721	KCNB1	A	264	T	A264T	Likely benign	0	1	14	110
MUT:KCNB1:Ala28Gly	PROT:Q14721	KCNB1	A	28	G	A28G	Benign	0	1	14	65
MUT:KCNB1:Ala28Thr	PROT:Q14721	KCNB1	A	28	T	A28T	Benign	0	1	14	65
MUT:KCNB1:Ala406Val	PROT:Q14721	KCNB1	A	406	V	A406V	Likely pathogenic	1	1	14	32
MUT:KCNB1:Ala435Pro	PROT:Q14721	KCNB1	A	435	P	A435P	Likely pathogenic	1	1	14	22
MUT:KCNB1:Ala515Val	PROT:Q14721	KCNB1	A	515	V	A515V	Benign	0	1	14	4
MUT:KCNB1:Ala552Thr	PROT:Q14721	KCNB1	A	552	T	A552T	Benign/Likely benign	0	1	14	11
MUT:KCNB1:Ala552Val	PROT:Q14721	KCNB1	A	552	V	A552V	Benign/Likely benign	0	1	14	11
MUT:KCNB1:Ala621Ser	PROT:Q14721	KCNB1	A	621	S	A621S	Benign/Likely benign	0	1	14	70
MUT:KCNB1:Ala702Glu	PROT:Q14721	KCNB1	A	702	E	A702E	Benign	0	1	14	11
MUT:KCNB1:Ala702Val	PROT:Q14721	KCNB1	A	702	V	A702V	Benign/Likely benign	0	1	14	11
MUT:KCNB1:Ala706Ser	PROT:Q14721	KCNB1	A	706	S	A706S	Likely benign	0	1	14	15
MUT:KCNB1:Ala706Thr	PROT:Q14721	KCNB1	A	706	T	A706T	Likely benign	0	1	14	15
MUT:KCNB1:Ala743Thr	PROT:Q14721	KCNB1	A	743	T	A743T	Benign	0	1	14	45
MUT:KCNB1:Ala750Thr	PROT:Q14721	KCNB1	A	750	T	A750T	Benign	0	1	14	38
MUT:KCNB1:Ala750Val	PROT:Q14721	KCNB1	A	750	V	A750V	Benign/Likely benign	0	1	14	38
MUT:KCNB1:Ala758Ser	PROT:Q14721	KCNB1	A	758	S	A758S	Benign	0	1	14	30
MUT:KCNB1:Ala758Thr	PROT:Q14721	KCNB1	A	758	T	A758T	Benign	0	1	14	30
MUT:KCNB1:Ala819Ser	PROT:Q14721	KCNB1	A	819	S	A819S	Benign	0	1	14	3
MUT:KCNB1:Ala819Thr	PROT:Q14721	KCNB1	A	819	T	A819T	Benign	0	1	14	3
MUT:KCNB1:Ala819Val	PROT:Q14721	KCNB1	A	819	V	A819V	Likely benign	0	1	14	3
MUT:KCNB1:Arg247Gly	PROT:Q14721	KCNB1	R	247	G	R247G	Likely pathogenic	1	1	14	119
MUT:KCNB1:Arg303Gln	PROT:Q14721	KCNB1	R	303	Q	R303Q	Likely pathogenic	1	1	14	71
MUT:KCNB1:Arg306Cys	PROT:Q14721	KCNB1	R	306	C	R306C	Pathogenic	1	6	14	68
MUT:KCNB1:Arg312Cys	PROT:Q14721	KCNB1	R	312	C	R312C	Pathogenic/Likely pathogenic	1	2	14	62
MUT:KCNB1:Arg312His	PROT:Q14721	KCNB1	R	312	H	R312H	Pathogenic/Likely pathogenic	1	5	14	62
MUT:KCNB1:Arg312Pro	PROT:Q14721	KCNB1	R	312	P	R312P	Likely pathogenic	1	1	14	62
MUT:KCNB1:Arg31Pro	PROT:Q14721	KCNB1	R	31	P	R31P	Likely benign	0	1	14	62
MUT:KCNB1:Arg325Gln	PROT:Q14721	KCNB1	R	325	Q	R325Q	Likely benign	0	1	14	49
MUT:KCNB1:Arg34His	PROT:Q14721	KCNB1	R	34	H	R34H	Benign	0	1	14	59
MUT:KCNB1:Arg456Gln	PROT:Q14721	KCNB1	R	456	Q	R456Q	Benign/Likely benign	0	2	14	1
MUT:KCNB1:Arg47Leu	PROT:Q14721	KCNB1	R	47	L	R47L	Benign	0	1	14	46
MUT:KCNB1:Arg575Gly	PROT:Q14721	KCNB1	R	575	G	R575G	Benign	0	1	14	34
MUT:KCNB1:Arg583Gln	PROT:Q14721	KCNB1	R	583	Q	R583Q	Likely benign	0	1	14	42
MUT:KCNB1:Arg61His	PROT:Q14721	KCNB1	R	61	H	R61H	Benign	0	1	14	32
MUT:KCNB1:Arg627Gln	PROT:Q14721	KCNB1	R	627	Q	R627Q	Benign/Likely benign	0	1	14	64
MUT:KCNB1:Arg627Leu	PROT:Q14721	KCNB1	R	627	L	R627L	Benign	0	2	14	64
MUT:KCNB1:Arg627Trp	PROT:Q14721	KCNB1	R	627	W	R627W	Likely benign	0	1	14	64
MUT:KCNB1:Arg698Gln	PROT:Q14721	KCNB1	R	698	Q	R698Q	Likely benign	0	1	14	7
MUT:KCNB1:Arg736Gln	PROT:Q14721	KCNB1	R	736	Q	R736Q	Benign/Likely benign	0	1	14	45
MUT:KCNB1:Arg842Cys	PROT:Q14721	KCNB1	R	842	C	R842C	Likely benign	0	1	14	26
MUT:KCNB1:Arg842His	PROT:Q14721	KCNB1	R	842	H	R842H	Benign/Likely benign	0	1	14	26
MUT:KCNB1:Asn209Lys	PROT:Q14721	KCNB1	N	209	K	N209K	Likely pathogenic	1	1	14	81
MUT:KCNB1:Asn329Ser	PROT:Q14721	KCNB1	N	329	S	N329S	Pathogenic/Likely pathogenic	1	1	14	45
MUT:KCNB1:Asn414Asp	PROT:Q14721	KCNB1	N	414	D	N414D	Pathogenic/Likely pathogenic	1	1	14	40
MUT:KCNB1:Asn812Ser	PROT:Q14721	KCNB1	N	812	S	N812S	Benign	0	1	14	4
MUT:KCNB1:Asp382Asn	PROT:Q14721	KCNB1	D	382	N	D382N	Likely pathogenic	1	2	14	8
MUT:KCNB1:Asp382Val	PROT:Q14721	KCNB1	D	382	V	D382V	Likely pathogenic	1	1	14	8
MUT:KCNB1:Asp80Gly	PROT:Q14721	KCNB1	D	80	G	D80G	Benign	0	1	14	13
MUT:KCNB1:Cys397Phe	PROT:Q14721	KCNB1	C	397	F	C397F	Likely pathogenic	1	1	14	23
MUT:KCNB1:Cys397Tyr	PROT:Q14721	KCNB1	C	397	Y	C397Y	Pathogenic/Likely pathogenic	1	2	14	23
MUT:KCNB1:Gln522His	PROT:Q14721	KCNB1	Q	522	H	Q522H	Likely benign	0	1	14	3
MUT:KCNB1:Gln522Leu	PROT:Q14721	KCNB1	Q	522	L	Q522L	Benign	0	1	14	3
MUT:KCNB1:Glu180Gln	PROT:Q14721	KCNB1	E	180	Q	E180Q	Likely pathogenic	1	1	14	52
MUT:KCNB1:Glu330Gln	PROT:Q14721	KCNB1	E	330	Q	E330Q	Pathogenic	1	1	14	44
MUT:KCNB1:Glu330Lys	PROT:Q14721	KCNB1	E	330	K	E330K	Likely pathogenic	1	2	14	44
MUT:KCNB1:Glu43Gly	PROT:Q14721	KCNB1	E	43	G	E43G	Likely pathogenic	1	1	14	50
MUT:KCNB1:Glu466Asp	PROT:Q14721	KCNB1	E	466	D	E466D	Likely benign	0	1	14	9
MUT:KCNB1:Glu470Asp	PROT:Q14721	KCNB1	E	470	D	E470D	Benign	0	1	14	13
MUT:KCNB1:Gly321Ser	PROT:Q14721	KCNB1	G	321	S	G321S	Pathogenic	1	1	14	53
MUT:KCNB1:Gly332Asp	PROT:Q14721	KCNB1	G	332	D	G332D	Likely pathogenic	1	1	14	42
MUT:KCNB1:Gly379Arg	PROT:Q14721	KCNB1	G	379	R	G379R	Pathogenic	1	1	14	5
MUT:KCNB1:Gly379Glu	PROT:Q14721	KCNB1	G	379	E	G379E	Pathogenic/Likely pathogenic	1	1	14	5
MUT:KCNB1:Gly379Val	PROT:Q14721	KCNB1	G	379	V	G379V	Pathogenic	1	1	14	5
MUT:KCNB1:Gly381Arg	PROT:Q14721	KCNB1	G	381	R	G381R	Pathogenic	1	2	14	7
MUT:KCNB1:Gly390Glu	PROT:Q14721	KCNB1	G	390	E	G390E	Pathogenic	1	1	14	16
MUT:KCNB1:Gly394Arg	PROT:Q14721	KCNB1	G	394	R	G394R	Pathogenic/Likely pathogenic	1	1	14	20
MUT:KCNB1:Gly394Glu	PROT:Q14721	KCNB1	G	394	E	G394E	Likely pathogenic	1	1	14	20
MUT:KCNB1:Gly395Arg	PROT:Q14721	KCNB1	G	395	R	G395R	Likely pathogenic	1	3	14	21
MUT:KCNB1:Gly395Glu	PROT:Q14721	KCNB1	G	395	E	G395E	Likely pathogenic	1	1	14	21
MUT:KCNB1:Gly401Ala	PROT:Q14721	KCNB1	G	401	A	G401A	Likely pathogenic	1	1	14	27
MUT:KCNB1:Gly401Arg	PROT:Q14721	KCNB1	G	401	R	G401R	Pathogenic	1	2	14	27
MUT:KCNB1:Gly473Asp	PROT:Q14721	KCNB1	G	473	D	G473D	Likely benign	0	1	14	16
MUT:KCNB1:Gly617Glu	PROT:Q14721	KCNB1	G	617	E	G617E	Benign	0	1	14	74
MUT:KCNB1:Gly618Asp	PROT:Q14721	KCNB1	G	618	D	G618D	Benign	0	1	14	73
MUT:KCNB1:Gly618Val	PROT:Q14721	KCNB1	G	618	V	G618V	Benign	0	1	14	73
MUT:KCNB1:Gly631Ser	PROT:Q14721	KCNB1	G	631	S	G631S	Likely benign	0	1	14	60
MUT:KCNB1:Gly699Glu	PROT:Q14721	KCNB1	G	699	E	G699E	Likely benign	0	1	14	8
MUT:KCNB1:Gly751Val	PROT:Q14721	KCNB1	G	751	V	G751V	Benign	0	1	14	37
MUT:KCNB1:Gly824Asp	PROT:Q14721	KCNB1	G	824	D	G824D	Benign	0	1	14	8
MUT:KCNB1:Gly847Ala	PROT:Q14721	KCNB1	G	847	A	G847A	Likely benign	0	1	14	31
MUT:KCNB1:His313Asn	PROT:Q14721	KCNB1	H	313	N	H313N	Likely pathogenic	1	1	14	61
MUT:KCNB1:His482Asn	PROT:Q14721	KCNB1	H	482	N	H482N	Likely benign	0	1	14	21
MUT:KCNB1:Ile196Phe	PROT:Q14721	KCNB1	I	196	F	I196F	Likely pathogenic	1	1	14	68
MUT:KCNB1:Ile196Ser	PROT:Q14721	KCNB1	I	196	S	I196S	Likely pathogenic	1	1	14	68
MUT:KCNB1:Ile199Phe	PROT:Q14721	KCNB1	I	199	F	I199F	Likely pathogenic	1	1	14	71
MUT:KCNB1:Ile307Val	PROT:Q14721	KCNB1	I	307	V	I307V	Likely pathogenic	1	1	14	67
MUT:KCNB1:Ile364Asn	PROT:Q14721	KCNB1	I	364	N	I364N	Likely pathogenic	1	1	14	10
MUT:KCNB1:Ile409Thr	PROT:Q14721	KCNB1	I	409	T	I409T	Likely pathogenic	1	1	14	35
MUT:KCNB1:Ile430Val	PROT:Q14721	KCNB1	I	430	V	I430V	Likely benign	0	1	14	27
MUT:KCNB1:Ile463Thr	PROT:Q14721	KCNB1	I	463	T	I463T	Benign/Likely benign	0	1	14	6
MUT:KCNB1:Ile463Val	PROT:Q14721	KCNB1	I	463	V	I463V	Likely benign	0	1	14	6
MUT:KCNB1:Ile580Val	PROT:Q14721	KCNB1	I	580	V	I580V	Likely benign	0	1	14	39
MUT:KCNB1:Ile756Thr	PROT:Q14721	KCNB1	I	756	T	I756T	Likely benign	0	1	14	32
MUT:KCNB1:Ile858Val	PROT:Q14721	KCNB1	I	858	V	I858V	Benign	0	1	14	42
MUT:KCNB1:Leu208Arg	PROT:Q14721	KCNB1	L	208	R	L208R	Likely pathogenic	1	1	14	80
MUT:KCNB1:Leu320Pro	PROT:Q14721	KCNB1	L	320	P	L320P	Pathogenic	1	1	14	54
MUT:KCNB1:Leu334Phe	PROT:Q14721	KCNB1	L	334	F	L334F	Likely benign	0	1	14	40
MUT:KCNB1:Leu334Pro	PROT:Q14721	KCNB1	L	334	P	L334P	Likely pathogenic	1	2	14	40
MUT:KCNB1:Leu407Pro	PROT:Q14721	KCNB1	L	407	P	L407P	Likely pathogenic	1	1	14	33
MUT:KCNB1:Leu483Phe	PROT:Q14721	KCNB1	L	483	F	L483F	Benign	0	1	14	20
MUT:KCNB1:Leu684His	PROT:Q14721	KCNB1	L	684	H	L684H	Benign	0	1	14	7
MUT:KCNB1:Leu688Pro	PROT:Q14721	KCNB1	L	688	P	L688P	Benign	0	1	14	3
MUT:KCNB1:Leu695Ile	PROT:Q14721	KCNB1	L	695	I	L695I	Benign	0	1	14	4
MUT:KCNB1:Leu844Ser	PROT:Q14721	KCNB1	L	844	S	L844S	Benign	0	1	14	28
MUT:KCNB1:Lys467Asn	PROT:Q14721	KCNB1	K	467	N	K467N	Likely benign	0	1	14	10
MUT:KCNB1:Lys492Arg	PROT:Q14721	KCNB1	K	492	R	K492R	Benign	0	1	14	11
MUT:KCNB1:Lys502Asn	PROT:Q14721	KCNB1	K	502	N	K502N	Likely benign	0	1	14	1
MUT:KCNB1:Lys658Arg	PROT:Q14721	KCNB1	K	658	R	K658R	Likely benign	0	1	14	33
MUT:KCNB1:Lys776Arg	PROT:Q14721	KCNB1	K	776	R	K776R	Likely benign	0	1	14	12
MUT:KCNB1:Lys7Asn	PROT:Q14721	KCNB1	K	7	N	K7N	Benign	0	1	14	86
MUT:KCNB1:Lys823Arg	PROT:Q14721	KCNB1	K	823	R	K823R	Benign	0	1	14	7
MUT:KCNB1:Met375Val	PROT:Q14721	KCNB1	M	375	V	M375V	Pathogenic	1	1	14	1
MUT:KCNB1:Met448Ile	PROT:Q14721	KCNB1	M	448	I	M448I	Likely benign	0	1	14	9
MUT:KCNB1:Met661Val	PROT:Q14721	KCNB1	M	661	V	M661V	Benign	0	1	14	30
MUT:KCNB1:Phe351Val	PROT:Q14721	KCNB1	F	351	V	F351V	Pathogenic	1	1	14	23
MUT:KCNB1:Phe416Leu	PROT:Q14721	KCNB1	F	416	L	F416L	Pathogenic	1	2	14	41
MUT:KCNB1:Pro272Ser	PROT:Q14721	KCNB1	P	272	S	P272S	Likely pathogenic	1	1	14	102
MUT:KCNB1:Pro2Arg	PROT:Q14721	KCNB1	P	2	R	P2R	Benign	0	1	14	91
MUT:KCNB1:Pro2Gln	PROT:Q14721	KCNB1	P	2	Q	P2Q	Likely benign	0	1	14	91
MUT:KCNB1:Pro2Ser	PROT:Q14721	KCNB1	P	2	S	P2S	Likely benign	0	1	14	91
MUT:KCNB1:Pro385Thr	PROT:Q14721	KCNB1	P	385	T	P385T	Likely pathogenic	1	2	14	11
MUT:KCNB1:Pro408Ser	PROT:Q14721	KCNB1	P	408	S	P408S	Pathogenic	1	1	14	34
MUT:KCNB1:Pro410Leu	PROT:Q14721	KCNB1	P	410	L	P410L	Pathogenic	1	1	14	36
MUT:KCNB1:Pro568Thr	PROT:Q14721	KCNB1	P	568	T	P568T	Benign	0	1	14	27
MUT:KCNB1:Pro613Ser	PROT:Q14721	KCNB1	P	613	S	P613S	Benign	0	1	14	72
MUT:KCNB1:Pro666Leu	PROT:Q14721	KCNB1	P	666	L	P666L	Benign/Likely benign	0	1	14	25
MUT:KCNB1:Pro734Arg	PROT:Q14721	KCNB1	P	734	R	P734R	Likely benign	0	1	14	43
MUT:KCNB1:Pro734His	PROT:Q14721	KCNB1	P	734	H	P734H	Likely benign	0	1	14	43
MUT:KCNB1:Pro738Leu	PROT:Q14721	KCNB1	P	738	L	P738L	Benign	0	1	14	47
MUT:KCNB1:Pro775Leu	PROT:Q14721	KCNB1	P	775	L	P775L	Likely benign	0	1	14	13
MUT:KCNB1:Pro779Leu	PROT:Q14721	KCNB1	P	779	L	P779L	Likely benign	0	1	14	9
MUT:KCNB1:Pro784Leu	PROT:Q14721	KCNB1	P	784	L	P784L	Likely benign	0	1	14	4
MUT:KCNB1:Pro806Leu	PROT:Q14721	KCNB1	P	806	L	P806L	Benign	0	1	14	1
MUT:KCNB1:Pro825Ser	PROT:Q14721	KCNB1	P	825	S	P825S	Benign	0	1	14	9
MUT:KCNB1:Pro839Leu	PROT:Q14721	KCNB1	P	839	L	P839L	Likely benign	0	1	14	23
MUT:KCNB1:Pro839Ser	PROT:Q14721	KCNB1	P	839	S	P839S	Benign	0	1	14	23
MUT:KCNB1:Ser14Asn	PROT:Q14721	KCNB1	S	14	N	S14N	Benign	0	1	14	79
MUT:KCNB1:Ser319Phe	PROT:Q14721	KCNB1	S	319	F	S319F	Pathogenic/Likely pathogenic	1	2	14	55
MUT:KCNB1:Ser319Tyr	PROT:Q14721	KCNB1	S	319	Y	S319Y	Likely pathogenic	1	1	14	55
MUT:KCNB1:Ser347Arg	PROT:Q14721	KCNB1	S	347	R	S347R	Pathogenic	1	3	14	27
MUT:KCNB1:Ser367Phe	PROT:Q14721	KCNB1	S	367	F	S367F	Likely pathogenic	1	1	14	7
MUT:KCNB1:Ser417Pro	PROT:Q14721	KCNB1	S	417	P	S417P	Pathogenic	1	1	14	40
MUT:KCNB1:Ser541Tyr	PROT:Q14721	KCNB1	S	541	Y	S541Y	Likely benign	0	1	14	0
MUT:KCNB1:Ser554Asn	PROT:Q14721	KCNB1	S	554	N	S554N	Likely benign	0	1	14	13
MUT:KCNB1:Ser590Asn	PROT:Q14721	KCNB1	S	590	N	S590N	Likely pathogenic	1	1	14	49
MUT:KCNB1:Ser614Asn	PROT:Q14721	KCNB1	S	614	N	S614N	Benign	0	1	14	73
MUT:KCNB1:Ser651Gly	PROT:Q14721	KCNB1	S	651	G	S651G	Likely benign	0	1	14	40
MUT:KCNB1:Ser700Asn	PROT:Q14721	KCNB1	S	700	N	S700N	Benign	0	1	14	9
MUT:KCNB1:Ser737Thr	PROT:Q14721	KCNB1	S	737	T	S737T	Benign	0	1	14	46
MUT:KCNB1:Ser777Ile	PROT:Q14721	KCNB1	S	777	I	S777I	Likely benign	0	1	14	11
MUT:KCNB1:Ser792Leu	PROT:Q14721	KCNB1	S	792	L	S792L	Benign/Likely benign	0	1	14	4
MUT:KCNB1:Ser838Pro	PROT:Q14721	KCNB1	S	838	P	S838P	Benign	0	1	14	22
MUT:KCNB1:Ser857Asn	PROT:Q14721	KCNB1	S	857	N	S857N	Benign	0	1	14	41
MUT:KCNB1:Thr154Ile	PROT:Q14721	KCNB1	T	154	I	T154I	Likely benign	0	1	14	26
MUT:KCNB1:Thr203Ser	PROT:Q14721	KCNB1	T	203	S	T203S	Likely benign	0	1	14	75
MUT:KCNB1:Thr210Ala	PROT:Q14721	KCNB1	T	210	A	T210A	Likely pathogenic	1	1	14	82
MUT:KCNB1:Thr210Arg	PROT:Q14721	KCNB1	T	210	R	T210R	Pathogenic	1	1	14	82
MUT:KCNB1:Thr210Lys	PROT:Q14721	KCNB1	T	210	K	T210K	Pathogenic	1	1	14	82
MUT:KCNB1:Thr210Met	PROT:Q14721	KCNB1	T	210	M	T210M	Pathogenic/Likely pathogenic	1	3	14	82
MUT:KCNB1:Thr323Ile	PROT:Q14721	KCNB1	T	323	I	T323I	Pathogenic/Likely pathogenic	1	3	14	51
MUT:KCNB1:Thr372Asn	PROT:Q14721	KCNB1	T	372	N	T372N	Likely pathogenic	1	1	14	2
MUT:KCNB1:Thr372Ile	PROT:Q14721	KCNB1	T	372	I	T372I	Pathogenic	1	1	14	2
MUT:KCNB1:Thr374Ile	PROT:Q14721	KCNB1	T	374	I	T374I	Pathogenic	1	1	14	0
MUT:KCNB1:Thr377Asn	PROT:Q14721	KCNB1	T	377	N	T377N	Pathogenic/Likely pathogenic	1	2	14	3
MUT:KCNB1:Thr616Ile	PROT:Q14721	KCNB1	T	616	I	T616I	Benign	0	1	14	75
MUT:KCNB1:Thr616Ser	PROT:Q14721	KCNB1	T	616	S	T616S	Benign	0	1	14	75
MUT:KCNB1:Thr712Met	PROT:Q14721	KCNB1	T	712	M	T712M	Benign	0	1	14	21
MUT:KCNB1:Thr727Ser	PROT:Q14721	KCNB1	T	727	S	T727S	Benign	0	1	14	36
MUT:KCNB1:Thr742Lys	PROT:Q14721	KCNB1	T	742	K	T742K	Likely benign	0	1	14	46
MUT:KCNB1:Thr782Ile	PROT:Q14721	KCNB1	T	782	I	T782I	Likely benign	0	1	14	6
MUT:KCNB1:Thr788Lys	PROT:Q14721	KCNB1	T	788	K	T788K	Benign	0	1	14	0
MUT:KCNB1:Thr788Met	PROT:Q14721	KCNB1	T	788	M	T788M	Benign	0	1	14	0
MUT:KCNB1:Trp369Leu	PROT:Q14721	KCNB1	W	369	L	W369L	Pathogenic/Likely pathogenic	1	1	14	5
MUT:KCNB1:Trp370Arg	PROT:Q14721	KCNB1	W	370	R	W370R	Pathogenic	1	1	14	4
MUT:KCNB1:Tyr533His	PROT:Q14721	KCNB1	Y	533	H	Y533H	Likely benign	0	1	14	8
MUT:KCNB1:Val200Ile	PROT:Q14721	KCNB1	V	200	I	V200I	Likely benign	0	1	14	72
MUT:KCNB1:Val349Phe	PROT:Q14721	KCNB1	V	349	F	V349F	Pathogenic	1	2	14	25
MUT:KCNB1:Val378Gly	PROT:Q14721	KCNB1	V	378	G	V378G	Likely pathogenic	1	1	14	4
MUT:KCNB1:Val378Ile	PROT:Q14721	KCNB1	V	378	I	V378I	Likely pathogenic	1	1	14	4
MUT:KCNB1:Val378Leu	PROT:Q14721	KCNB1	V	378	L	V378L	Pathogenic	1	1	14	4
MUT:KCNB1:Val465Ile	PROT:Q14721	KCNB1	V	465	I	V465I	Likely benign	0	1	14	8
MUT:KCNB1:Val569Ile	PROT:Q14721	KCNB1	V	569	I	V569I	Benign/Likely benign	0	1	14	28
MUT:KCNB1:Val569Leu	PROT:Q14721	KCNB1	V	569	L	V569L	Benign/Likely benign	0	1	14	28
MUT:KCNB1:Val638Leu	PROT:Q14721	KCNB1	V	638	L	V638L	Likely benign	0	1	14	53
MUT:KCNB1:Val687Ile	PROT:Q14721	KCNB1	V	687	I	V687I	Benign/Likely benign	0	1	14	4
MUT:KCNB1:Val718Met	PROT:Q14721	KCNB1	V	718	M	V718M	Benign	0	1	14	27
MUT:KCNB1:Val841Ile	PROT:Q14721	KCNB1	V	841	I	V841I	Benign	0	1	14	25
MUT:KCNB1:Val843Met	PROT:Q14721	KCNB1	V	843	M	V843M	Likely benign	0	1	14	27
MUT:KCNB2:Arg304Gln	PROT:Q92953	KCNB2	R	304	Q	R304Q	Pathogenic	1	1	7	144
MUT:KCNB2:Pro856Leu	PROT:Q92953	KCNB2	P	856	L	P856L	Likely benign	0	1	7	123
MUT:KCNB2:Thr381Ala	PROT:Q92953	KCNB2	T	381	A	T381A	Likely pathogenic	1	1	7	67
MUT:KCNC2:Arg351Lys	PROT:Q96PR1	KCNC2	R	351	K	R351K	Pathogenic	1	1	1	294
MUT:KCNC2:Arg405Gly	PROT:Q96PR1	KCNC2	R	405	G	R405G	Likely pathogenic	1	1	1	348
MUT:KCNC2:Asp167Tyr	PROT:Q96PR1	KCNC2	D	167	Y	D167Y	Pathogenic	1	1	1	110
MUT:KCNC2:Cys125Trp	PROT:Q96PR1	KCNC2	C	125	W	C125W	Pathogenic	1	1	1	68
MUT:KCNC2:Glu135Gly	PROT:Q96PR1	KCNC2	E	135	G	E135G	Pathogenic	1	1	1	78
MUT:KCNC2:Glu163Lys	PROT:Q96PR1	KCNC2	E	163	K	E163K	Likely pathogenic	1	1	1	106
MUT:KCNC2:Glu404Lys	PROT:Q96PR1	KCNC2	E	404	K	E404K	Likely pathogenic	1	1	1	347
MUT:KCNC2:Leu394Ser	PROT:Q96PR1	KCNC2	L	394	S	L394S	Likely pathogenic	1	1	1	337
MUT:KCNC2:Phe293Leu	PROT:Q96PR1	KCNC2	F	293	L	F293L	Likely pathogenic	1	1	1	236
MUT:KCNC2:Phe388Ser	PROT:Q96PR1	KCNC2	F	388	S	F388S	Pathogenic	1	1	1	331
MUT:KCNC2:Thr283Met	PROT:Q96PR1	KCNC2	T	283	M	T283M	Likely benign	0	1	1	226
MUT:KCNC2:Thr437Ala	PROT:Q96PR1	KCNC2	T	437	A	T437A	Pathogenic	1	1	1	380
MUT:KCNC2:Val471Leu	PROT:Q96PR1	KCNC2	V	471	L	V471L	Pathogenic	1	1	1	414
MUT:KCNC2:Val473Asp	PROT:Q96PR1	KCNC2	V	473	D	V473D	Likely pathogenic	1	1	1	416
MUT:KCND2:Ala41Val	PROT:Q9NZV8	KCND2	A	41	V	A41V	Likely benign	0	1	4	93
MUT:KCND2:Arg305Cys	PROT:Q9NZV8	KCND2	R	305	C	R305C	Pathogenic	1	1	4	133
MUT:KCND2:Arg533Gln	PROT:Q9NZV8	KCND2	R	533	Q	R533Q	Likely benign	0	1	4	19
MUT:KCND2:Arg539Leu	PROT:Q9NZV8	KCND2	R	539	L	R539L	Benign	0	1	4	13
MUT:KCND2:Asn442Ser	PROT:Q9NZV8	KCND2	N	442	S	N442S	Likely benign	0	1	4	4
MUT:KCND2:Gly471Ser	PROT:Q9NZV8	KCND2	G	471	S	G471S	Likely benign	0	1	4	12
MUT:KCND2:Ile405Met	PROT:Q9NZV8	KCND2	I	405	M	I405M	Likely pathogenic	1	1	4	33
MUT:KCND2:Ile405Phe	PROT:Q9NZV8	KCND2	I	405	F	I405F	Likely pathogenic	1	1	4	33
MUT:KCND2:Phe11Leu	PROT:Q9NZV8	KCND2	F	11	L	F11L	Likely benign	0	1	4	123
MUT:KCND2:Pro403Ala	PROT:Q9NZV8	KCND2	P	403	A	P403A	Pathogenic/Likely pathogenic	1	3	4	35
MUT:KCND2:Pro403Leu	PROT:Q9NZV8	KCND2	P	403	L	P403L	Pathogenic/Likely pathogenic	1	1	4	35
MUT:KCND2:Pro512Ser	PROT:Q9NZV8	KCND2	P	512	S	P512S	Likely benign	0	1	4	40
MUT:KCND2:Ser472Phe	PROT:Q9NZV8	KCND2	S	472	F	S472F	Likely benign	0	1	4	13
MUT:KCND2:Ser473Thr	PROT:Q9NZV8	KCND2	S	473	T	S473T	Likely benign	0	1	4	14
MUT:KCND2:Val366Phe	PROT:Q9NZV8	KCND2	V	366	F	V366F	Pathogenic	1	1	4	72
MUT:KCND2:Val404Met	PROT:Q9NZV8	KCND2	V	404	M	V404M	Pathogenic	1	2	4	34
MUT:KCND3:Ala30Ser	PROT:Q9UK17	KCND3	A	30	S	A30S	Likely benign	0	1	7	106
MUT:KCND3:Ala453Val	PROT:Q9UK17	KCND3	A	453	V	A453V	Likely benign	0	1	7	12
MUT:KCND3:Ala622Val	PROT:Q9UK17	KCND3	A	622	V	A622V	Likely benign	0	1	7	31
MUT:KCND3:Arg290Gln	PROT:Q9UK17	KCND3	R	290	Q	R290Q	Likely pathogenic	1	1	7	137
MUT:KCND3:Arg302His	PROT:Q9UK17	KCND3	R	302	H	R302H	Likely pathogenic	1	1	7	139
MUT:KCND3:Arg302Pro	PROT:Q9UK17	KCND3	R	302	P	R302P	Likely pathogenic	1	1	7	139
MUT:KCND3:Asn639Lys	PROT:Q9UK17	KCND3	N	639	K	N639K	Likely benign	0	1	7	48
MUT:KCND3:Cys317Tyr	PROT:Q9UK17	KCND3	C	317	Y	C317Y	Pathogenic	1	1	7	124
MUT:KCND3:Glu174Gln	PROT:Q9UK17	KCND3	E	174	Q	E174Q	Likely benign	0	1	7	21
MUT:KCND3:Glu452Lys	PROT:Q9UK17	KCND3	E	452	K	E452K	Benign/Likely benign	0	3	7	11
MUT:KCND3:Gly345Val	PROT:Q9UK17	KCND3	G	345	V	G345V	Pathogenic	1	1	7	96
MUT:KCND3:Gly380Trp	PROT:Q9UK17	KCND3	G	380	W	G380W	Likely pathogenic	1	1	7	61
MUT:KCND3:Gly384Ser	PROT:Q9UK17	KCND3	G	384	S	G384S	Pathogenic/Likely pathogenic	1	2	7	57
MUT:KCND3:Met525Val	PROT:Q9UK17	KCND3	M	525	V	M525V	Benign/Likely benign	0	2	7	10
MUT:KCND3:Pro375Ser	PROT:Q9UK17	KCND3	P	375	S	P375S	Pathogenic/Likely pathogenic	1	1	7	66
MUT:KCND3:Pro632Leu	PROT:Q9UK17	KCND3	P	632	L	P632L	Likely benign	0	1	7	41
MUT:KCND3:Ser283Cys	PROT:Q9UK17	KCND3	S	283	C	S283C	Likely pathogenic	1	1	7	130
MUT:KCND3:Ser304Phe	PROT:Q9UK17	KCND3	S	304	F	S304F	Likely pathogenic	1	1	7	137
MUT:KCND3:Ser385Pro	PROT:Q9UK17	KCND3	S	385	P	S385P	Pathogenic	1	1	7	56
MUT:KCND3:Ser390Asn	PROT:Q9UK17	KCND3	S	390	N	S390N	Likely pathogenic	1	2	7	51
MUT:KCND3:Thr352Pro	PROT:Q9UK17	KCND3	T	352	P	T352P	Pathogenic	1	1	7	89
MUT:KCND3:Thr377Ala	PROT:Q9UK17	KCND3	T	377	A	T377A	Likely pathogenic	1	1	7	64
MUT:KCND3:Thr377Met	PROT:Q9UK17	KCND3	T	377	M	T377M	Pathogenic	1	1	7	64
MUT:KCND3:Thr56Ser	PROT:Q9UK17	KCND3	T	56	S	T56S	Likely benign	0	1	7	80
MUT:KCND3:Val338Glu	PROT:Q9UK17	KCND3	V	338	E	V338E	Pathogenic	1	1	7	103
MUT:KCND3:Val392Ile	PROT:Q9UK17	KCND3	V	392	I	V392I	Pathogenic/Likely pathogenic	1	2	7	49
MUT:KCND3:Val401Leu	PROT:Q9UK17	KCND3	V	401	L	V401L	Pathogenic	1	1	7	40
MUT:KCNE1:Gly52Ala	PROT:P15382	KCNE1	G	52	A	G52A	Likely pathogenic	1	2	3	24
MUT:KCNE1:Gly52Arg	PROT:P15382	KCNE1	G	52	R	G52R	Pathogenic	1	3	3	24
MUT:KCNE1:His73Tyr	PROT:P15382	KCNE1	H	73	Y	H73Y	Likely pathogenic	1	1	3	29
MUT:KCNE1:Leu3Pro	PROT:P15382	KCNE1	L	3	P	L3P	Likely benign	0	2	3	4
MUT:KCNE1:Lys70Met	PROT:P15382	KCNE1	K	70	M	K70M	Likely pathogenic	1	3	3	32
MUT:KCNE1:Met1Leu	PROT:P15382	KCNE1	M	1	L	M1L	Pathogenic	1	2	3	6
MUT:KCNE1:Ser38Gly	PROT:P15382	KCNE1	S	38	G	S38G	Benign	0	4	3	10
MUT:KCNE1:Thr7Ile	PROT:P15382	KCNE1	T	7	I	T7I	Pathogenic	1	3	3	0
MUT:KCNE1:Trp87Arg	PROT:P15382	KCNE1	W	87	R	W87R	Likely pathogenic	1	3	3	15
MUT:KCNE1:Tyr103Cys	PROT:P15382	KCNE1	Y	103	C	Y103C	Likely benign	0	2	3	1
MUT:KCNE2:Gln9Glu	PROT:Q9Y6J6	KCNE2	Q	9	E	Q9E	Benign/Likely benign	0	4	1	89
MUT:KCNE2:Phe60Leu	PROT:Q9Y6J6	KCNE2	F	60	L	F60L	Pathogenic	1	2	1	38
MUT:KCNE2:Val14Ile	PROT:Q9Y6J6	KCNE2	V	14	I	V14I	Likely benign	0	2	1	84
MUT:KCNH2:Ala175Asp	PROT:Q12809	KCNH2	A	175	D	A175D	Likely benign	0	2	35	9
MUT:KCNH2:Ala233Ser	PROT:Q12809	KCNH2	A	233	S	A233S	Benign/Likely benign	0	1	35	6
MUT:KCNH2:Ala32Val	PROT:Q12809	KCNH2	A	32	V	A32V	Pathogenic	1	1	35	4
MUT:KCNH2:Ala422Asp	PROT:Q12809	KCNH2	A	422	D	A422D	Likely pathogenic	1	1	35	33
MUT:KCNH2:Ala422Thr	PROT:Q12809	KCNH2	A	422	T	A422T	Pathogenic	1	2	35	33
MUT:KCNH2:Ala430Asp	PROT:Q12809	KCNH2	A	430	D	A430D	Likely pathogenic	1	1	35	41
MUT:KCNH2:Ala490Thr	PROT:Q12809	KCNH2	A	490	T	A490T	Pathogenic/Likely pathogenic	1	5	35	15
MUT:KCNH2:Ala558Glu	PROT:Q12809	KCNH2	A	558	E	A558E	Likely pathogenic	1	2	35	53
MUT:KCNH2:Ala558Pro	PROT:Q12809	KCNH2	A	558	P	A558P	Pathogenic	1	2	35	53
MUT:KCNH2:Ala561Pro	PROT:Q12809	KCNH2	A	561	P	A561P	Pathogenic	1	1	35	50
MUT:KCNH2:Ala561Thr	PROT:Q12809	KCNH2	A	561	T	A561T	Pathogenic	1	2	35	50
MUT:KCNH2:Ala561Val	PROT:Q12809	KCNH2	A	561	V	A561V	Pathogenic/Likely pathogenic	1	5	35	50
MUT:KCNH2:Ala565Gly	PROT:Q12809	KCNH2	A	565	G	A565G	Likely pathogenic	1	1	35	46
MUT:KCNH2:Ala614Val	PROT:Q12809	KCNH2	A	614	V	A614V	Pathogenic	1	3	35	1
MUT:KCNH2:Ala78Thr	PROT:Q12809	KCNH2	A	78	T	A78T	Pathogenic/Likely pathogenic	1	1	35	50
MUT:KCNH2:Arg1055Gln	PROT:Q12809	KCNH2	R	1055	Q	R1055Q	Benign/Likely benign	0	2	35	26
MUT:KCNH2:Arg181Gln	PROT:Q12809	KCNH2	R	181	Q	R181Q	Benign/Likely benign	0	1	35	15
MUT:KCNH2:Arg531Gln	PROT:Q12809	KCNH2	R	531	Q	R531Q	Likely pathogenic	1	1	35	56
MUT:KCNH2:Arg531Pro	PROT:Q12809	KCNH2	R	531	P	R531P	Likely pathogenic	1	1	35	56
MUT:KCNH2:Arg534Cys	PROT:Q12809	KCNH2	R	534	C	R534C	Pathogenic	1	2	35	59
MUT:KCNH2:Arg56Gln	PROT:Q12809	KCNH2	R	56	Q	R56Q	Likely pathogenic	1	2	35	28
MUT:KCNH2:Arg56Leu	PROT:Q12809	KCNH2	R	56	L	R56L	Pathogenic/Likely pathogenic	1	1	35	28
MUT:KCNH2:Arg56Trp	PROT:Q12809	KCNH2	R	56	W	R56W	Likely pathogenic	1	1	35	28
MUT:KCNH2:Arg582Cys	PROT:Q12809	KCNH2	R	582	C	R582C	Pathogenic/Likely pathogenic	1	4	35	29
MUT:KCNH2:Arg582Leu	PROT:Q12809	KCNH2	R	582	L	R582L	Likely pathogenic	1	2	35	29
MUT:KCNH2:Arg752Gln	PROT:Q12809	KCNH2	R	752	Q	R752Q	Pathogenic/Likely pathogenic	1	4	35	11
MUT:KCNH2:Arg752Trp	PROT:Q12809	KCNH2	R	752	W	R752W	Pathogenic/Likely pathogenic	1	4	35	11
MUT:KCNH2:Arg823Trp	PROT:Q12809	KCNH2	R	823	W	R823W	Pathogenic/Likely pathogenic	1	2	35	4
MUT:KCNH2:Asn339Tyr	PROT:Q12809	KCNH2	N	339	Y	N339Y	Likely pathogenic	1	1	35	12
MUT:KCNH2:Asn470Asp	PROT:Q12809	KCNH2	N	470	D	N470D	Pathogenic	1	2	35	5
MUT:KCNH2:Asn588Lys	PROT:Q12809	KCNH2	N	588	K	N588K	Likely pathogenic	1	3	35	23
MUT:KCNH2:Asn629Asp	PROT:Q12809	KCNH2	N	629	D	N629D	Pathogenic	1	1	35	8
MUT:KCNH2:Asn629Lys	PROT:Q12809	KCNH2	N	629	K	N629K	Likely pathogenic	1	2	35	8
MUT:KCNH2:Asn629Ser	PROT:Q12809	KCNH2	N	629	S	N629S	Pathogenic	1	3	35	8
MUT:KCNH2:Asn629Thr	PROT:Q12809	KCNH2	N	629	T	N629T	Pathogenic	1	2	35	8
MUT:KCNH2:Asn633His	PROT:Q12809	KCNH2	N	633	H	N633H	Pathogenic	1	1	35	12
MUT:KCNH2:Asn633Ser	PROT:Q12809	KCNH2	N	633	S	N633S	Pathogenic	1	4	35	12
MUT:KCNH2:Asn996Ile	PROT:Q12809	KCNH2	N	996	I	N996I	Pathogenic/Likely pathogenic	1	3	35	13
MUT:KCNH2:Asp466Ala	PROT:Q12809	KCNH2	D	466	A	D466A	Pathogenic	1	1	35	9
MUT:KCNH2:Asp501Ala	PROT:Q12809	KCNH2	D	501	A	D501A	Pathogenic	1	1	35	26
MUT:KCNH2:Asp501Asn	PROT:Q12809	KCNH2	D	501	N	D501N	Pathogenic/Likely pathogenic	1	2	35	26
MUT:KCNH2:Asp501Gly	PROT:Q12809	KCNH2	D	501	G	D501G	Pathogenic	1	1	35	26
MUT:KCNH2:Asp609Asn	PROT:Q12809	KCNH2	D	609	N	D609N	Pathogenic	1	2	35	2
MUT:KCNH2:Asp774Tyr	PROT:Q12809	KCNH2	D	774	Y	D774Y	Pathogenic/Likely pathogenic	1	3	35	6
MUT:KCNH2:Asp837Asn	PROT:Q12809	KCNH2	D	837	N	D837N	Pathogenic/Likely pathogenic	1	3	35	10
MUT:KCNH2:Asp837Gly	PROT:Q12809	KCNH2	D	837	G	D837G	Pathogenic/Likely pathogenic	1	4	35	10
MUT:KCNH2:Cys108Arg	PROT:Q12809	KCNH2	C	108	R	C108R	Likely pathogenic	1	2	35	58
MUT:KCNH2:Cys49Phe	PROT:Q12809	KCNH2	C	49	F	C49F	Likely pathogenic	1	1	35	21
MUT:KCNH2:Cys555Arg	PROT:Q12809	KCNH2	C	555	R	C555R	Likely pathogenic	1	1	35	56
MUT:KCNH2:Cys566Gly	PROT:Q12809	KCNH2	C	566	G	C566G	Likely pathogenic	1	2	35	45
MUT:KCNH2:Glu58Gly	PROT:Q12809	KCNH2	E	58	G	E58G	Likely pathogenic	1	1	35	30
MUT:KCNH2:Glu58Lys	PROT:Q12809	KCNH2	E	58	K	E58K	Pathogenic/Likely pathogenic	1	2	35	30
MUT:KCNH2:Glu637Lys	PROT:Q12809	KCNH2	E	637	K	E637K	Pathogenic	1	2	35	16
MUT:KCNH2:Glu978Lys	PROT:Q12809	KCNH2	E	978	K	E978K	Likely benign	0	2	35	31
MUT:KCNH2:Gly306Arg	PROT:Q12809	KCNH2	G	306	R	G306R	Likely pathogenic	1	3	35	1
MUT:KCNH2:Gly306Trp	PROT:Q12809	KCNH2	G	306	W	G306W	Likely pathogenic	1	2	35	1
MUT:KCNH2:Gly47Cys	PROT:Q12809	KCNH2	G	47	C	G47C	Pathogenic/Likely pathogenic	1	1	35	19
MUT:KCNH2:Gly47Val	PROT:Q12809	KCNH2	G	47	V	G47V	Pathogenic	1	2	35	19
MUT:KCNH2:Gly53Arg	PROT:Q12809	KCNH2	G	53	R	G53R	Pathogenic/Likely pathogenic	1	2	35	25
MUT:KCNH2:Gly53Asp	PROT:Q12809	KCNH2	G	53	D	G53D	Pathogenic	1	1	35	25
MUT:KCNH2:Gly572Arg	PROT:Q12809	KCNH2	G	572	R	G572R	Pathogenic	1	2	35	39
MUT:KCNH2:Gly572Ser	PROT:Q12809	KCNH2	G	572	S	G572S	Pathogenic	1	4	35	39
MUT:KCNH2:Gly572Val	PROT:Q12809	KCNH2	G	572	V	G572V	Pathogenic/Likely pathogenic	1	2	35	39
MUT:KCNH2:Gly584Ser	PROT:Q12809	KCNH2	G	584	S	G584S	Pathogenic/Likely pathogenic	1	6	35	27
MUT:KCNH2:Gly601Ser	PROT:Q12809	KCNH2	G	601	S	G601S	Pathogenic/Likely pathogenic	1	3	35	10
MUT:KCNH2:Gly604Cys	PROT:Q12809	KCNH2	G	604	C	G604C	Likely pathogenic	1	1	35	7
MUT:KCNH2:Gly604Ser	PROT:Q12809	KCNH2	G	604	S	G604S	Pathogenic	1	2	35	7
MUT:KCNH2:Gly626Ala	PROT:Q12809	KCNH2	G	626	A	G626A	Likely pathogenic	1	2	35	5
MUT:KCNH2:Gly626Ser	PROT:Q12809	KCNH2	G	626	S	G626S	Pathogenic/Likely pathogenic	1	2	35	5
MUT:KCNH2:Gly628Ser	PROT:Q12809	KCNH2	G	628	S	G628S	Pathogenic	1	5	35	7
MUT:KCNH2:Gly71Arg	PROT:Q12809	KCNH2	G	71	R	G71R	Pathogenic	1	2	35	43
MUT:KCNH2:Gly71Glu	PROT:Q12809	KCNH2	G	71	E	G71E	Pathogenic/Likely pathogenic	1	1	35	43
MUT:KCNH2:Gly71Trp	PROT:Q12809	KCNH2	G	71	W	G71W	Pathogenic	1	1	35	43
MUT:KCNH2:Gly785Val	PROT:Q12809	KCNH2	G	785	V	G785V	Pathogenic	1	1	35	5
MUT:KCNH2:Gly873Ser	PROT:Q12809	KCNH2	G	873	S	G873S	Benign/Likely benign	0	4	35	2
MUT:KCNH2:His562Arg	PROT:Q12809	KCNH2	H	562	R	H562R	Pathogenic/Likely pathogenic	1	4	35	49
MUT:KCNH2:His562Pro	PROT:Q12809	KCNH2	H	562	P	H562P	Likely pathogenic	1	2	35	49
MUT:KCNH2:His562Tyr	PROT:Q12809	KCNH2	H	562	Y	H562Y	Pathogenic/Likely pathogenic	1	1	35	49
MUT:KCNH2:His70Arg	PROT:Q12809	KCNH2	H	70	R	H70R	Pathogenic/Likely pathogenic	1	2	35	42
MUT:KCNH2:Ile31Asn	PROT:Q12809	KCNH2	I	31	N	I31N	Likely pathogenic	1	1	35	3
MUT:KCNH2:Ile31Thr	PROT:Q12809	KCNH2	I	31	T	I31T	Likely pathogenic	1	1	35	3
MUT:KCNH2:Ile571Val	PROT:Q12809	KCNH2	I	571	V	I571V	Pathogenic/Likely pathogenic	1	2	35	40
MUT:KCNH2:Ile593Arg	PROT:Q12809	KCNH2	I	593	R	I593R	Pathogenic	1	3	35	18
MUT:KCNH2:Ile593Lys	PROT:Q12809	KCNH2	I	593	K	I593K	Pathogenic	1	2	35	18
MUT:KCNH2:Ile593Val	PROT:Q12809	KCNH2	I	593	V	I593V	Likely pathogenic	1	1	35	18
MUT:KCNH2:Ile655Asn	PROT:Q12809	KCNH2	I	655	N	I655N	Likely pathogenic	1	1	35	34
MUT:KCNH2:Ile782Thr	PROT:Q12809	KCNH2	I	782	T	I782T	Likely pathogenic	1	2	35	2
MUT:KCNH2:Leu109Arg	PROT:Q12809	KCNH2	L	109	R	L109R	Benign	0	1	35	57
MUT:KCNH2:Leu413Arg	PROT:Q12809	KCNH2	L	413	R	L413R	Likely pathogenic	1	1	35	24
MUT:KCNH2:Leu552Ser	PROT:Q12809	KCNH2	L	552	S	L552S	Pathogenic	1	4	35	59
MUT:KCNH2:Leu564Gln	PROT:Q12809	KCNH2	L	564	Q	L564Q	Likely pathogenic	1	1	35	47
MUT:KCNH2:Leu589Pro	PROT:Q12809	KCNH2	L	589	P	L589P	Likely pathogenic	1	1	35	22
MUT:KCNH2:Leu615Val	PROT:Q12809	KCNH2	L	615	V	L615V	Likely pathogenic	1	2	35	2
MUT:KCNH2:Leu69Pro	PROT:Q12809	KCNH2	L	69	P	L69P	Pathogenic	1	2	35	41
MUT:KCNH2:Leu790Pro	PROT:Q12809	KCNH2	L	790	P	L790P	Likely pathogenic	1	2	35	10
MUT:KCNH2:Leu86Arg	PROT:Q12809	KCNH2	L	86	R	L86R	Pathogenic	1	2	35	58
MUT:KCNH2:Leu87Pro	PROT:Q12809	KCNH2	L	87	P	L87P	Likely pathogenic	1	1	35	59
MUT:KCNH2:Lys28Glu	PROT:Q12809	KCNH2	K	28	E	K28E	Pathogenic	1	1	35	0
MUT:KCNH2:Lys610Glu	PROT:Q12809	KCNH2	K	610	E	K610E	Likely pathogenic	1	1	35	1
MUT:KCNH2:Lys897Thr	PROT:Q12809	KCNH2	K	897	T	K897T	Benign	0	4	35	2
MUT:KCNH2:Lys93Arg	PROT:Q12809	KCNH2	K	93	R	K93R	Likely benign	0	2	35	65
MUT:KCNH2:Met124Arg	PROT:Q12809	KCNH2	M	124	R	M124R	Pathogenic	1	2	35	42
MUT:KCNH2:Met1Ile	PROT:Q12809	KCNH2	M	1	I	M1I	Pathogenic	1	1	35	27
MUT:KCNH2:Met1Thr	PROT:Q12809	KCNH2	M	1	T	M1T	Likely pathogenic	1	1	35	27
MUT:KCNH2:Met645Arg	PROT:Q12809	KCNH2	M	645	R	M645R	Likely pathogenic	1	1	35	24
MUT:KCNH2:Met645Val	PROT:Q12809	KCNH2	M	645	V	M645V	Pathogenic	1	1	35	24
MUT:KCNH2:Met651Arg	PROT:Q12809	KCNH2	M	651	R	M651R	Likely pathogenic	1	1	35	30
MUT:KCNH2:Phe29Leu	PROT:Q12809	KCNH2	F	29	L	F29L	Pathogenic	1	2	35	1
MUT:KCNH2:Phe627Leu	PROT:Q12809	KCNH2	F	627	L	F627L	Pathogenic	1	3	35	6
MUT:KCNH2:Phe640Leu	PROT:Q12809	KCNH2	F	640	L	F640L	Pathogenic	1	2	35	19
MUT:KCNH2:Phe805Cys	PROT:Q12809	KCNH2	F	805	C	F805C	Pathogenic/Likely pathogenic	1	2	35	22
MUT:KCNH2:Phe805Ser	PROT:Q12809	KCNH2	F	805	S	F805S	Pathogenic/Likely pathogenic	1	2	35	22
MUT:KCNH2:Pro596Ala	PROT:Q12809	KCNH2	P	596	A	P596A	Pathogenic	1	1	35	15
MUT:KCNH2:Pro596His	PROT:Q12809	KCNH2	P	596	H	P596H	Pathogenic	1	1	35	15
MUT:KCNH2:Pro605Leu	PROT:Q12809	KCNH2	P	605	L	P605L	Pathogenic/Likely pathogenic	1	3	35	6
MUT:KCNH2:Pro605Ser	PROT:Q12809	KCNH2	P	605	S	P605S	Likely pathogenic	1	2	35	6
MUT:KCNH2:Pro632Ser	PROT:Q12809	KCNH2	P	632	S	P632S	Pathogenic/Likely pathogenic	1	1	35	11
MUT:KCNH2:Pro721Leu	PROT:Q12809	KCNH2	P	721	L	P721L	Likely pathogenic	1	2	35	20
MUT:KCNH2:Pro72Arg	PROT:Q12809	KCNH2	P	72	R	P72R	Likely pathogenic	1	2	35	44
MUT:KCNH2:Pro72Gln	PROT:Q12809	KCNH2	P	72	Q	P72Q	Pathogenic/Likely pathogenic	1	3	35	44
MUT:KCNH2:Pro72Leu	PROT:Q12809	KCNH2	P	72	L	P72L	Pathogenic/Likely pathogenic	1	2	35	44
MUT:KCNH2:Pro967Leu	PROT:Q12809	KCNH2	P	967	L	P967L	Benign/Likely benign	0	2	35	42
MUT:KCNH2:Ser620Gly	PROT:Q12809	KCNH2	S	620	G	S620G	Pathogenic/Likely pathogenic	1	1	35	0
MUT:KCNH2:Ser621Asn	PROT:Q12809	KCNH2	S	621	N	S621N	Pathogenic/Likely pathogenic	1	3	35	0
MUT:KCNH2:Ser624Ile	PROT:Q12809	KCNH2	S	624	I	S624I	Likely pathogenic	1	1	35	3
MUT:KCNH2:Ser641Phe	PROT:Q12809	KCNH2	S	641	F	S641F	Pathogenic	1	2	35	20
MUT:KCNH2:Ser641Tyr	PROT:Q12809	KCNH2	S	641	Y	S641Y	Pathogenic	1	1	35	20
MUT:KCNH2:Ser660Leu	PROT:Q12809	KCNH2	S	660	L	S660L	Pathogenic/Likely pathogenic	1	4	35	39
MUT:KCNH2:Ser818Leu	PROT:Q12809	KCNH2	S	818	L	S818L	Pathogenic	1	4	35	9
MUT:KCNH2:Ser818Trp	PROT:Q12809	KCNH2	S	818	W	S818W	Likely pathogenic	1	2	35	9
MUT:KCNH2:Thr474Ile	PROT:Q12809	KCNH2	T	474	I	T474I	Pathogenic/Likely pathogenic	1	1	35	1
MUT:KCNH2:Thr613Ala	PROT:Q12809	KCNH2	T	613	A	T613A	Likely pathogenic	1	1	35	0
MUT:KCNH2:Thr613Met	PROT:Q12809	KCNH2	T	613	M	T613M	Pathogenic/Likely pathogenic	1	4	35	0
MUT:KCNH2:Thr618Ile	PROT:Q12809	KCNH2	T	618	I	T618I	Pathogenic	1	2	35	0
MUT:KCNH2:Thr623Ile	PROT:Q12809	KCNH2	T	623	I	T623I	Pathogenic/Likely pathogenic	1	3	35	2
MUT:KCNH2:Thr623Ser	PROT:Q12809	KCNH2	T	623	S	T623S	Likely pathogenic	1	1	35	2
MUT:KCNH2:Thr634Ala	PROT:Q12809	KCNH2	T	634	A	T634A	Pathogenic/Likely pathogenic	1	1	35	13
MUT:KCNH2:Thr65Pro	PROT:Q12809	KCNH2	T	65	P	T65P	Pathogenic	1	2	35	37
MUT:KCNH2:Thr826Ile	PROT:Q12809	KCNH2	T	826	I	T826I	Pathogenic	1	1	35	1
MUT:KCNH2:Trp568Cys	PROT:Q12809	KCNH2	W	568	C	W568C	Likely pathogenic	1	2	35	43
MUT:KCNH2:Tyr43Asn	PROT:Q12809	KCNH2	Y	43	N	Y43N	Likely pathogenic	1	1	35	15
MUT:KCNH2:Tyr43Asp	PROT:Q12809	KCNH2	Y	43	D	Y43D	Pathogenic	1	2	35	15
MUT:KCNH2:Tyr43Cys	PROT:Q12809	KCNH2	Y	43	C	Y43C	Pathogenic	1	3	35	15
MUT:KCNH2:Tyr493Cys	PROT:Q12809	KCNH2	Y	493	C	Y493C	Likely pathogenic	1	2	35	18
MUT:KCNH2:Tyr542His	PROT:Q12809	KCNH2	Y	542	H	Y542H	Likely pathogenic	1	1	35	67
MUT:KCNH2:Tyr569His	PROT:Q12809	KCNH2	Y	569	H	Y569H	Likely pathogenic	1	2	35	42
MUT:KCNH2:Tyr597Cys	PROT:Q12809	KCNH2	Y	597	C	Y597C	Pathogenic/Likely pathogenic	1	2	35	14
MUT:KCNH2:Tyr611Asp	PROT:Q12809	KCNH2	Y	611	D	Y611D	Likely pathogenic	1	2	35	0
MUT:KCNH2:Tyr611His	PROT:Q12809	KCNH2	Y	611	H	Y611H	Pathogenic	1	2	35	0
MUT:KCNH2:Tyr616Cys	PROT:Q12809	KCNH2	Y	616	C	Y616C	Pathogenic	1	1	35	2
MUT:KCNH2:Val491Ile	PROT:Q12809	KCNH2	V	491	I	V491I	Likely benign	0	2	35	16
MUT:KCNH2:Val59Ala	PROT:Q12809	KCNH2	V	59	A	V59A	Likely pathogenic	1	1	35	31
MUT:KCNH2:Val625Ala	PROT:Q12809	KCNH2	V	625	A	V625A	Likely pathogenic	1	1	35	4
MUT:KCNH2:Val822Met	PROT:Q12809	KCNH2	V	822	M	V822M	Pathogenic	1	4	35	5
MUT:KCNH2:Val994Met	PROT:Q12809	KCNH2	V	994	M	V994M	Likely pathogenic	1	1	35	15
MUT:KCNH7:Asn308Ile	PROT:Q9NS40	KCNH7	N	308	I	N308I	Benign	0	1	10	11
MUT:KCNH7:Gly586Arg	PROT:Q9NS40	KCNH7	G	586	R	G586R	Likely benign	0	1	10	198
MUT:KCNH7:Gly958Ala	PROT:Q9NS40	KCNH7	G	958	A	G958A	Benign	0	3	10	62
MUT:KCNH7:Met880Ile	PROT:Q9NS40	KCNH7	M	880	I	M880I	Benign	0	1	10	16
MUT:KCNJ12:Ala185Val	PROT:Q14500	KCNJ12	A	185	V	A185V	Benign	0	1	5	121
MUT:KCNJ12:Arg118Gln	PROT:Q14500	KCNJ12	R	118	Q	R118Q	Benign	0	1	5	54
MUT:KCNJ12:Arg39Gln	PROT:Q14500	KCNJ12	R	39	Q	R39Q	Benign	0	1	5	1
MUT:KCNJ12:Arg43His	PROT:Q14500	KCNJ12	R	43	H	R43H	Benign	0	1	5	5
MUT:KCNJ12:Asp173Asn	PROT:Q14500	KCNJ12	D	173	N	D173N	Benign	0	1	5	109
MUT:KCNJ12:Gln192His	PROT:Q14500	KCNJ12	Q	192	H	Q192H	Benign	0	1	5	128
MUT:KCNJ12:Glu139Lys	PROT:Q14500	KCNJ12	E	139	K	E139K	Benign	0	1	5	75
MUT:KCNJ12:Glu239Lys	PROT:Q14500	KCNJ12	E	239	K	E239K	Benign	0	1	5	115
MUT:KCNJ12:Glu56Ala	PROT:Q14500	KCNJ12	E	56	A	E56A	Benign	0	1	5	8
MUT:KCNJ12:Gly145Ser	PROT:Q14500	KCNJ12	G	145	S	G145S	Benign	0	1	5	81
MUT:KCNJ12:Ile100Val	PROT:Q14500	KCNJ12	I	100	V	I100V	Benign	0	1	5	36
MUT:KCNJ12:Ile249Val	PROT:Q14500	KCNJ12	I	249	V	I249V	Benign	0	1	5	105
MUT:KCNJ12:Leu211Phe	PROT:Q14500	KCNJ12	L	211	F	L211F	Benign	0	1	5	143
MUT:KCNJ12:Met71Ile	PROT:Q14500	KCNJ12	M	71	I	M71I	Benign	0	1	5	7
MUT:KCNJ12:Pro156Leu	PROT:Q14500	KCNJ12	P	156	L	P156L	Benign	0	1	5	92
MUT:KCNJ12:Ser15Leu	PROT:Q14500	KCNJ12	S	15	L	S15L	Benign	0	1	5	23
MUT:KCNJ12:Thr142Asn	PROT:Q14500	KCNJ12	T	142	N	T142N	Benign	0	1	5	78
MUT:KCNJ12:Val36Leu	PROT:Q14500	KCNJ12	V	36	L	V36L	Benign	0	1	5	2
MUT:KCNJ13:Arg162Trp	PROT:O60928	KCNJ13	R	162	W	R162W	Pathogenic/Likely pathogenic	1	1	2	2
MUT:KCNJ13:Ile120Thr	PROT:O60928	KCNJ13	I	120	T	I120T	Pathogenic	1	1	2	44
MUT:KCNJ13:Leu144Pro	PROT:O60928	KCNJ13	L	144	P	L144P	Likely pathogenic	1	2	2	20
MUT:KCNJ13:Leu241Pro	PROT:O60928	KCNJ13	L	241	P	L241P	Pathogenic	1	1	2	46
MUT:KCNJ13:Ser105Ile	PROT:O60928	KCNJ13	S	105	I	S105I	Likely pathogenic	1	1	2	59
MUT:KCNJ13:Thr153Ile	PROT:O60928	KCNJ13	T	153	I	T153I	Pathogenic/Likely pathogenic	1	2	2	11
MUT:KCNJ13:Thr175Ile	PROT:O60928	KCNJ13	T	175	I	T175I	Benign	0	1	2	11
MUT:KCNJ18:Arg40His	PROT:B7U540	KCNJ18	R	40	H	R40H	Benign	0	1	2	314
MUT:KCNJ1:Ala158Thr	PROT:P48048	KCNJ1	A	158	T	A158T	Likely pathogenic	1	1	11	25
MUT:KCNJ1:Ala179Ser	PROT:P48048	KCNJ1	A	179	S	A179S	Likely pathogenic	1	1	11	4
MUT:KCNJ1:Ala179Thr	PROT:P48048	KCNJ1	A	179	T	A179T	Likely pathogenic	1	2	11	4
MUT:KCNJ1:Ala84Val	PROT:P48048	KCNJ1	A	84	V	A84V	Pathogenic/Likely pathogenic	1	2	11	40
MUT:KCNJ1:Arg184Gln	PROT:P48048	KCNJ1	R	184	Q	R184Q	Likely pathogenic	1	1	11	1
MUT:KCNJ1:Arg184Trp	PROT:P48048	KCNJ1	R	184	W	R184W	Likely pathogenic	1	1	11	1
MUT:KCNJ1:Arg292Gln	PROT:P48048	KCNJ1	R	292	Q	R292Q	Pathogenic/Likely pathogenic	1	1	11	21
MUT:KCNJ1:Arg292Trp	PROT:P48048	KCNJ1	R	292	W	R292W	Pathogenic	1	1	11	21
MUT:KCNJ1:Asn105Lys	PROT:P48048	KCNJ1	N	105	K	N105K	Pathogenic	1	1	11	61
MUT:KCNJ1:Asp89His	PROT:P48048	KCNJ1	D	89	H	D89H	Pathogenic	1	1	11	45
MUT:KCNJ1:Cys30Tyr	PROT:P48048	KCNJ1	C	30	Y	C30Y	Pathogenic/Likely pathogenic	1	3	11	14
MUT:KCNJ1:Gly148Glu	PROT:P48048	KCNJ1	G	148	E	G148E	Likely pathogenic	1	2	11	35
MUT:KCNJ1:Ile244Ser	PROT:P48048	KCNJ1	I	244	S	I244S	Likely pathogenic	1	1	11	10
MUT:KCNJ1:Leu190Phe	PROT:P48048	KCNJ1	L	190	F	L190F	Likely benign	0	2	11	1
MUT:KCNJ1:Leu197Phe	PROT:P48048	KCNJ1	L	197	F	L197F	Likely pathogenic	1	1	11	4
MUT:KCNJ1:Leu201Arg	PROT:P48048	KCNJ1	L	201	R	L201R	Likely pathogenic	1	1	11	0
MUT:KCNJ1:Lys167Glu	PROT:P48048	KCNJ1	K	167	E	K167E	Likely pathogenic	1	1	11	16
MUT:KCNJ1:Lys26Glu	PROT:P48048	KCNJ1	K	26	E	K26E	Likely pathogenic	1	1	11	18
MUT:KCNJ1:Lys317Glu	PROT:P48048	KCNJ1	K	317	E	K317E	Likely pathogenic	1	1	11	4
MUT:KCNJ1:Met338Thr	PROT:P48048	KCNJ1	M	338	T	M338T	Benign/Likely benign	0	2	11	1
MUT:KCNJ1:Phe76Ser	PROT:P48048	KCNJ1	F	76	S	F76S	Likely pathogenic	1	1	11	32
MUT:KCNJ1:Pro91Leu	PROT:P48048	KCNJ1	P	91	L	P91L	Pathogenic/Likely pathogenic	1	1	11	47
MUT:KCNJ1:Ser200Arg	PROT:P48048	KCNJ1	S	200	R	S200R	Pathogenic	1	1	11	1
MUT:KCNJ1:Ser257Asn	PROT:P48048	KCNJ1	S	257	N	S257N	Likely pathogenic	1	1	11	23
MUT:KCNJ1:Ser257Ile	PROT:P48048	KCNJ1	S	257	I	S257I	Likely pathogenic	1	1	11	23
MUT:KCNJ1:Thr172Pro	PROT:P48048	KCNJ1	T	172	P	T172P	Pathogenic	1	1	11	11
MUT:KCNJ1:Thr248Pro	PROT:P48048	KCNJ1	T	248	P	T248P	Likely pathogenic	1	1	11	14
MUT:KCNJ1:Thr52Met	PROT:P48048	KCNJ1	T	52	M	T52M	Pathogenic	1	2	11	8
MUT:KCNJ1:Thr67Ala	PROT:P48048	KCNJ1	T	67	A	T67A	Benign/Likely benign	0	1	11	23
MUT:KCNJ1:Trp80Cys	PROT:P48048	KCNJ1	W	80	C	W80C	Likely pathogenic	1	1	11	36
MUT:KCNJ1:Val103Glu	PROT:P48048	KCNJ1	V	103	E	V103E	Likely pathogenic	1	1	11	59
MUT:KCNJ1:Val130Leu	PROT:P48048	KCNJ1	V	130	L	V130L	Likely pathogenic	1	1	11	53
MUT:KCNJ1:Val296Gly	PROT:P48048	KCNJ1	V	296	G	V296G	Pathogenic/Likely pathogenic	1	2	11	17
MUT:KCNJ2:Arg189Ile	PROT:P63252	KCNJ2	R	189	I	R189I	Likely pathogenic	1	1	8	53
MUT:KCNJ2:Arg218Gln	PROT:P63252	KCNJ2	R	218	Q	R218Q	Pathogenic	1	2	8	24
MUT:KCNJ2:Arg218Trp	PROT:P63252	KCNJ2	R	218	W	R218W	Pathogenic/Likely pathogenic	1	2	8	24
MUT:KCNJ2:Arg260Pro	PROT:P63252	KCNJ2	R	260	P	R260P	Pathogenic	1	1	8	18
MUT:KCNJ2:Arg312Cys	PROT:P63252	KCNJ2	R	312	C	R312C	Pathogenic/Likely pathogenic	1	3	8	24
MUT:KCNJ2:Arg312His	PROT:P63252	KCNJ2	R	312	H	R312H	Pathogenic/Likely pathogenic	1	1	8	24
MUT:KCNJ2:Arg67Gln	PROT:P63252	KCNJ2	R	67	Q	R67Q	Pathogenic/Likely pathogenic	1	2	8	57
MUT:KCNJ2:Arg67Trp	PROT:P63252	KCNJ2	R	67	W	R67W	Pathogenic	1	2	8	57
MUT:KCNJ2:Arg82Gln	PROT:P63252	KCNJ2	R	82	Q	R82Q	Pathogenic	1	3	8	72
MUT:KCNJ2:Arg82Trp	PROT:P63252	KCNJ2	R	82	W	R82W	Pathogenic	1	3	8	72
MUT:KCNJ2:Asn216His	PROT:P63252	KCNJ2	N	216	H	N216H	Likely pathogenic	1	2	8	26
MUT:KCNJ2:Asp172Asn	PROT:P63252	KCNJ2	D	172	N	D172N	Pathogenic	1	2	8	70
MUT:KCNJ2:Asp71Asn	PROT:P63252	KCNJ2	D	71	N	D71N	Likely pathogenic	1	1	8	61
MUT:KCNJ2:Asp71Val	PROT:P63252	KCNJ2	D	71	V	D71V	Pathogenic	1	2	8	61
MUT:KCNJ2:Asp78Tyr	PROT:P63252	KCNJ2	D	78	Y	D78Y	Pathogenic	1	1	8	68
MUT:KCNJ2:Cys54Phe	PROT:P63252	KCNJ2	C	54	F	C54F	Likely pathogenic	1	2	8	44
MUT:KCNJ2:Glu299Val	PROT:P63252	KCNJ2	E	299	V	E299V	Likely pathogenic	1	1	8	37
MUT:KCNJ2:Gly144Ala	PROT:P63252	KCNJ2	G	144	A	G144A	Pathogenic	1	1	8	98
MUT:KCNJ2:Gly144Asp	PROT:P63252	KCNJ2	G	144	D	G144D	Pathogenic	1	1	8	98
MUT:KCNJ2:Gly144Ser	PROT:P63252	KCNJ2	G	144	S	G144S	Pathogenic	1	2	8	98
MUT:KCNJ2:Gly146Ser	PROT:P63252	KCNJ2	G	146	S	G146S	Pathogenic	1	2	8	96
MUT:KCNJ2:Gly215Asp	PROT:P63252	KCNJ2	G	215	D	G215D	Pathogenic	1	1	8	27
MUT:KCNJ2:Gly300Asp	PROT:P63252	KCNJ2	G	300	D	G300D	Pathogenic	1	2	8	36
MUT:KCNJ2:Gly300Val	PROT:P63252	KCNJ2	G	300	V	G300V	Pathogenic	1	2	8	36
MUT:KCNJ2:Leu222Ser	PROT:P63252	KCNJ2	L	222	S	L222S	Likely pathogenic	1	1	8	20
MUT:KCNJ2:Leu90Arg	PROT:P63252	KCNJ2	L	90	R	L90R	Pathogenic	1	1	8	80
MUT:KCNJ2:Met301Arg	PROT:P63252	KCNJ2	M	301	R	M301R	Pathogenic	1	1	8	35
MUT:KCNJ2:Met301Lys	PROT:P63252	KCNJ2	M	301	K	M301K	Pathogenic	1	1	8	35
MUT:KCNJ2:Met307Val	PROT:P63252	KCNJ2	M	307	V	M307V	Pathogenic/Likely pathogenic	1	1	8	29
MUT:KCNJ2:Pro186Leu	PROT:P63252	KCNJ2	P	186	L	P186L	Pathogenic	1	2	8	56
MUT:KCNJ2:Ser136Phe	PROT:P63252	KCNJ2	S	136	F	S136F	Pathogenic	1	1	8	106
MUT:KCNJ2:Thr192Ala	PROT:P63252	KCNJ2	T	192	A	T192A	Pathogenic	1	2	8	50
MUT:KCNJ2:Thr305Ala	PROT:P63252	KCNJ2	T	305	A	T305A	Pathogenic	1	2	8	31
MUT:KCNJ2:Thr305Pro	PROT:P63252	KCNJ2	T	305	P	T305P	Pathogenic	1	2	8	31
MUT:KCNJ2:Thr309Ile	PROT:P63252	KCNJ2	T	309	I	T309I	Pathogenic	1	1	8	27
MUT:KCNJ2:Thr75Arg	PROT:P63252	KCNJ2	T	75	R	T75R	Pathogenic	1	2	8	65
MUT:KCNJ2:Thr75Met	PROT:P63252	KCNJ2	T	75	M	T75M	Pathogenic/Likely pathogenic	1	1	8	65
MUT:KCNJ2:Val302Met	PROT:P63252	KCNJ2	V	302	M	V302M	Pathogenic	1	2	8	34
MUT:KCNK18:Ala198Gly	PROT:Q7Z418	KCNK18	A	198	G	A198G	Benign	0	1	4	54
MUT:KCNK18:Arg165Trp	PROT:Q7Z418	KCNK18	R	165	W	R165W	Benign	0	1	4	87
MUT:KCNK18:Cys110Arg	PROT:Q7Z418	KCNK18	C	110	R	C110R	Benign	0	1	4	142
MUT:KCNK18:Glu73Ala	PROT:Q7Z418	KCNK18	E	73	A	E73A	Likely benign	0	1	4	179
MUT:KCNK18:Tyr163Asp	PROT:Q7Z418	KCNK18	Y	163	D	Y163D	Pathogenic	1	1	4	89
MUT:KCNK3:Asp211Gly	PROT:O14649	KCNK3	D	211	G	D211G	Likely benign	0	1	6	104
MUT:KCNK3:Glu182Gln	PROT:O14649	KCNK3	E	182	Q	E182Q	Likely pathogenic	1	1	6	133
MUT:KCNK3:Glu182Lys	PROT:O14649	KCNK3	E	182	K	E182K	Likely pathogenic	1	1	6	133
MUT:KCNK3:Gly203Arg	PROT:O14649	KCNK3	G	203	R	G203R	Pathogenic	1	1	6	112
MUT:KCNK3:Gly203Asp	PROT:O14649	KCNK3	G	203	D	G203D	Pathogenic	1	2	6	112
MUT:KCNK3:His141Gln	PROT:O14649	KCNK3	H	141	Q	H141Q	Likely benign	0	2	6	174
MUT:KCNK3:Leu122Pro	PROT:O14649	KCNK3	L	122	P	L122P	Likely pathogenic	1	1	6	193
MUT:KCNK3:Pro367Gln	PROT:O14649	KCNK3	P	367	Q	P367Q	Likely benign	0	1	6	9
MUT:KCNK3:Ser380Arg	PROT:O14649	KCNK3	S	380	R	S380R	Likely benign	0	1	6	3
MUT:KCNK3:Thr8Lys	PROT:O14649	KCNK3	T	8	K	T8K	Pathogenic	1	1	6	307
MUT:KCNK3:Tyr192Cys	PROT:O14649	KCNK3	Y	192	C	Y192C	Pathogenic	1	1	6	123
MUT:KCNK3:Val154Met	PROT:O14649	KCNK3	V	154	M	V154M	Likely benign	0	1	6	161
MUT:KCNK3:Val221Leu	PROT:O14649	KCNK3	V	221	L	V221L	Pathogenic	1	1	6	94
MUT:KCNK5:Gly332Ser	PROT:O95279	KCNK5	G	332	S	G332S	Likely benign	0	1	9	26
MUT:KCNK5:Lys365Ile	PROT:O95279	KCNK5	K	365	I	K365I	Likely benign	0	1	9	6
MUT:KCNK9:Ala237Asp	PROT:Q9NPC2	KCNK9	A	237	D	A237D	Likely pathogenic	1	1	2	104
MUT:KCNK9:Arg131His	PROT:Q9NPC2	KCNK9	R	131	H	R131H	Pathogenic/Likely pathogenic	1	1	2	210
MUT:KCNK9:Gly236Arg	PROT:Q9NPC2	KCNK9	G	236	R	G236R	Pathogenic	1	1	2	105
MUT:KCNK9:Leu239Pro	PROT:Q9NPC2	KCNK9	L	239	P	L239P	Likely pathogenic	1	1	2	102
MUT:KCNK9:Met159Ile	PROT:Q9NPC2	KCNK9	M	159	I	M159I	Likely pathogenic	1	1	2	182
MUT:KCNK9:Thr199Ala	PROT:Q9NPC2	KCNK9	T	199	A	T199A	Likely pathogenic	1	1	2	142
MUT:KCNN2:Arg233Cys	PROT:Q9H2S1	KCNN2	R	233	C	R233C	Likely benign	0	1	6	60
MUT:KCNN2:Arg771Gln	PROT:Q9H2S1	KCNN2	R	771	Q	R771Q	Likely benign	0	1	6	202
MUT:KCNN2:Gly591Arg	PROT:Q9H2S1	KCNN2	G	591	R	G591R	Likely pathogenic	1	1	6	22
MUT:KCNN2:Ile500Ser	PROT:Q9H2S1	KCNN2	I	500	S	I500S	Likely pathogenic	1	1	6	68
MUT:KCNN2:Leu644Pro	PROT:Q9H2S1	KCNN2	L	644	P	L644P	Pathogenic	1	1	6	75
MUT:KCNN2:Lys647Arg	PROT:Q9H2S1	KCNN2	K	647	R	K647R	Likely benign	0	1	6	78
MUT:KCNN2:Trp562Leu	PROT:Q9H2S1	KCNN2	W	562	L	W562L	Likely pathogenic	1	1	6	6
MUT:KCNN2:Tyr573Cys	PROT:Q9H2S1	KCNN2	Y	573	C	Y573C	Likely pathogenic	1	1	6	4
MUT:KCNN4:Arg352His	PROT:O15554	KCNN4	R	352	H	R352H	Pathogenic	1	1	5	15
MUT:KCNN4:Ser314Pro	PROT:O15554	KCNN4	S	314	P	S314P	Pathogenic	1	1	5	15
MUT:KCNN4:Thr64Met	PROT:O15554	KCNN4	T	64	M	T64M	Likely benign	0	1	5	114
MUT:KCNN4:Val282Glu	PROT:O15554	KCNN4	V	282	E	V282E	Likely pathogenic	1	1	5	47
MUT:KCNN4:Val282Met	PROT:O15554	KCNN4	V	282	M	V282M	Likely pathogenic	1	1	5	47
MUT:KCNQ1:Ala178Pro	PROT:P51787	KCNQ1	A	178	P	A178P	Pathogenic	1	2	22	6
MUT:KCNQ1:Ala178Thr	PROT:P51787	KCNQ1	A	178	T	A178T	Pathogenic/Likely pathogenic	1	4	22	6
MUT:KCNQ1:Ala2Gly	PROT:P51787	KCNQ1	A	2	G	A2G	Likely pathogenic	1	1	22	25
MUT:KCNQ1:Ala302Glu	PROT:P51787	KCNQ1	A	302	E	A302E	Pathogenic/Likely pathogenic	1	3	22	35
MUT:KCNQ1:Ala302Val	PROT:P51787	KCNQ1	A	302	V	A302V	Pathogenic/Likely pathogenic	1	5	22	35
MUT:KCNQ1:Ala341Glu	PROT:P51787	KCNQ1	A	341	E	A341E	Pathogenic	1	5	22	63
MUT:KCNQ1:Ala341Gly	PROT:P51787	KCNQ1	A	341	G	A341G	Likely pathogenic	1	3	22	63
MUT:KCNQ1:Ala341Val	PROT:P51787	KCNQ1	A	341	V	A341V	Pathogenic	1	3	22	63
MUT:KCNQ1:Ala344Glu	PROT:P51787	KCNQ1	A	344	E	A344E	Pathogenic/Likely pathogenic	1	2	22	60
MUT:KCNQ1:Ala344Val	PROT:P51787	KCNQ1	A	344	V	A344V	Pathogenic	1	4	22	60
MUT:KCNQ1:Ala370Glu	PROT:P51787	KCNQ1	A	370	E	A370E	Likely pathogenic	1	1	22	34
MUT:KCNQ1:Ala371Glu	PROT:P51787	KCNQ1	A	371	E	A371E	Likely pathogenic	1	1	22	33
MUT:KCNQ1:Ala371Pro	PROT:P51787	KCNQ1	A	371	P	A371P	Likely pathogenic	1	1	22	33
MUT:KCNQ1:Ala371Thr	PROT:P51787	KCNQ1	A	371	T	A371T	Likely pathogenic	1	1	22	33
MUT:KCNQ1:Ala46Glu	PROT:P51787	KCNQ1	A	46	E	A46E	Likely benign	0	1	22	19
MUT:KCNQ1:Ala525Thr	PROT:P51787	KCNQ1	A	525	T	A525T	Pathogenic/Likely pathogenic	1	3	22	12
MUT:KCNQ1:Arg174Cys	PROT:P51787	KCNQ1	R	174	C	R174C	Pathogenic/Likely pathogenic	1	4	22	10
MUT:KCNQ1:Arg174His	PROT:P51787	KCNQ1	R	174	H	R174H	Pathogenic/Likely pathogenic	1	4	22	10
MUT:KCNQ1:Arg174Leu	PROT:P51787	KCNQ1	R	174	L	R174L	Pathogenic/Likely pathogenic	1	2	22	10
MUT:KCNQ1:Arg174Pro	PROT:P51787	KCNQ1	R	174	P	R174P	Likely pathogenic	1	1	22	10
MUT:KCNQ1:Arg190Gln	PROT:P51787	KCNQ1	R	190	Q	R190Q	Pathogenic/Likely pathogenic	1	4	22	6
MUT:KCNQ1:Arg190Leu	PROT:P51787	KCNQ1	R	190	L	R190L	Pathogenic/Likely pathogenic	1	4	22	6
MUT:KCNQ1:Arg190Pro	PROT:P51787	KCNQ1	R	190	P	R190P	Likely pathogenic	1	1	22	6
MUT:KCNQ1:Arg190Trp	PROT:P51787	KCNQ1	R	190	W	R190W	Pathogenic/Likely pathogenic	1	4	22	6
MUT:KCNQ1:Arg231Cys	PROT:P51787	KCNQ1	R	231	C	R231C	Pathogenic/Likely pathogenic	1	5	22	32
MUT:KCNQ1:Arg231His	PROT:P51787	KCNQ1	R	231	H	R231H	Pathogenic	1	4	22	32
MUT:KCNQ1:Arg231Ser	PROT:P51787	KCNQ1	R	231	S	R231S	Pathogenic	1	1	22	32
MUT:KCNQ1:Arg243Cys	PROT:P51787	KCNQ1	R	243	C	R243C	Pathogenic/Likely pathogenic	1	4	22	24
MUT:KCNQ1:Arg243His	PROT:P51787	KCNQ1	R	243	H	R243H	Pathogenic/Likely pathogenic	1	7	22	24
MUT:KCNQ1:Arg243Leu	PROT:P51787	KCNQ1	R	243	L	R243L	Likely pathogenic	1	1	22	24
MUT:KCNQ1:Arg243Pro	PROT:P51787	KCNQ1	R	243	P	R243P	Pathogenic	1	2	22	24
MUT:KCNQ1:Arg243Ser	PROT:P51787	KCNQ1	R	243	S	R243S	Pathogenic/Likely pathogenic	1	2	22	24
MUT:KCNQ1:Arg259Cys	PROT:P51787	KCNQ1	R	259	C	R259C	Pathogenic/Likely pathogenic	1	4	22	8
MUT:KCNQ1:Arg259Gly	PROT:P51787	KCNQ1	R	259	G	R259G	Pathogenic	1	1	22	8
MUT:KCNQ1:Arg259His	PROT:P51787	KCNQ1	R	259	H	R259H	Pathogenic/Likely pathogenic	1	6	22	8
MUT:KCNQ1:Arg259Leu	PROT:P51787	KCNQ1	R	259	L	R259L	Pathogenic/Likely pathogenic	1	2	22	8
MUT:KCNQ1:Arg259Pro	PROT:P51787	KCNQ1	R	259	P	R259P	Likely pathogenic	1	1	22	8
MUT:KCNQ1:Arg360Gly	PROT:P51787	KCNQ1	R	360	G	R360G	Pathogenic	1	1	22	44
MUT:KCNQ1:Arg366Gln	PROT:P51787	KCNQ1	R	366	Q	R366Q	Pathogenic/Likely pathogenic	1	5	22	38
MUT:KCNQ1:Arg366Leu	PROT:P51787	KCNQ1	R	366	L	R366L	Pathogenic/Likely pathogenic	1	2	22	38
MUT:KCNQ1:Arg366Pro	PROT:P51787	KCNQ1	R	366	P	R366P	Pathogenic	1	2	22	38
MUT:KCNQ1:Arg366Trp	PROT:P51787	KCNQ1	R	366	W	R366W	Likely pathogenic	1	4	22	38
MUT:KCNQ1:Arg380Ser	PROT:P51787	KCNQ1	R	380	S	R380S	Pathogenic/Likely pathogenic	1	3	22	24
MUT:KCNQ1:Arg380Trp	PROT:P51787	KCNQ1	R	380	W	R380W	Pathogenic	1	1	22	24
MUT:KCNQ1:Arg518Gly	PROT:P51787	KCNQ1	R	518	G	R518G	Pathogenic/Likely pathogenic	1	3	22	5
MUT:KCNQ1:Arg539Gln	PROT:P51787	KCNQ1	R	539	Q	R539Q	Pathogenic/Likely pathogenic	1	4	22	26
MUT:KCNQ1:Arg539Trp	PROT:P51787	KCNQ1	R	539	W	R539W	Pathogenic/Likely pathogenic	1	4	22	26
MUT:KCNQ1:Arg555Cys	PROT:P51787	KCNQ1	R	555	C	R555C	Pathogenic	1	4	22	22
MUT:KCNQ1:Arg555His	PROT:P51787	KCNQ1	R	555	H	R555H	Pathogenic/Likely pathogenic	1	4	22	22
MUT:KCNQ1:Arg555Ser	PROT:P51787	KCNQ1	R	555	S	R555S	Pathogenic/Likely pathogenic	1	4	22	22
MUT:KCNQ1:Arg562Ser	PROT:P51787	KCNQ1	R	562	S	R562S	Pathogenic	1	2	22	15
MUT:KCNQ1:Arg591Cys	PROT:P51787	KCNQ1	R	591	C	R591C	Pathogenic/Likely pathogenic	1	4	22	7
MUT:KCNQ1:Arg591Gly	PROT:P51787	KCNQ1	R	591	G	R591G	Likely pathogenic	1	1	22	7
MUT:KCNQ1:Arg591His	PROT:P51787	KCNQ1	R	591	H	R591H	Pathogenic	1	4	22	7
MUT:KCNQ1:Arg591Leu	PROT:P51787	KCNQ1	R	591	L	R591L	Pathogenic/Likely pathogenic	1	2	22	7
MUT:KCNQ1:Arg591Ser	PROT:P51787	KCNQ1	R	591	S	R591S	Likely pathogenic	1	1	22	7
MUT:KCNQ1:Arg594Gln	PROT:P51787	KCNQ1	R	594	Q	R594Q	Pathogenic/Likely pathogenic	1	5	22	4
MUT:KCNQ1:Arg594Leu	PROT:P51787	KCNQ1	R	594	L	R594L	Likely pathogenic	1	1	22	4
MUT:KCNQ1:Arg594Pro	PROT:P51787	KCNQ1	R	594	P	R594P	Pathogenic/Likely pathogenic	1	2	22	4
MUT:KCNQ1:Asp202Asn	PROT:P51787	KCNQ1	D	202	N	D202N	Pathogenic/Likely pathogenic	1	5	22	3
MUT:KCNQ1:Asp202Gly	PROT:P51787	KCNQ1	D	202	G	D202G	Pathogenic	1	1	22	3
MUT:KCNQ1:Asp242Asn	PROT:P51787	KCNQ1	D	242	N	D242N	Pathogenic/Likely pathogenic	1	4	22	25
MUT:KCNQ1:Asp242Glu	PROT:P51787	KCNQ1	D	242	E	D242E	Likely pathogenic	1	1	22	25
MUT:KCNQ1:Asp242Tyr	PROT:P51787	KCNQ1	D	242	Y	D242Y	Pathogenic/Likely pathogenic	1	2	22	25
MUT:KCNQ1:Asp317Ala	PROT:P51787	KCNQ1	D	317	A	D317A	Likely pathogenic	1	1	22	50
MUT:KCNQ1:Asp317Asn	PROT:P51787	KCNQ1	D	317	N	D317N	Pathogenic	1	2	22	50
MUT:KCNQ1:Asp317Gly	PROT:P51787	KCNQ1	D	317	G	D317G	Pathogenic/Likely pathogenic	1	2	22	50
MUT:KCNQ1:Gln107His	PROT:P51787	KCNQ1	Q	107	H	Q107H	Likely pathogenic	1	1	22	11
MUT:KCNQ1:Gln367His	PROT:P51787	KCNQ1	Q	367	H	Q367H	Likely pathogenic	1	2	22	37
MUT:KCNQ1:Glu115Gly	PROT:P51787	KCNQ1	E	115	G	E115G	Pathogenic/Likely pathogenic	1	2	22	19
MUT:KCNQ1:Glu170Lys	PROT:P51787	KCNQ1	E	170	K	E170K	Likely pathogenic	1	1	22	14
MUT:KCNQ1:Glu261Asp	PROT:P51787	KCNQ1	E	261	D	E261D	Pathogenic	1	3	22	6
MUT:KCNQ1:Glu261Gln	PROT:P51787	KCNQ1	E	261	Q	E261Q	Likely pathogenic	1	1	22	6
MUT:KCNQ1:Glu261Leu	PROT:P51787	KCNQ1	E	261	L	E261L	Pathogenic	1	1	22	6
MUT:KCNQ1:Glu261Lys	PROT:P51787	KCNQ1	E	261	K	E261K	Pathogenic/Likely pathogenic	1	2	22	6
MUT:KCNQ1:Glu284Lys	PROT:P51787	KCNQ1	E	284	K	E284K	Pathogenic/Likely pathogenic	1	2	22	17
MUT:KCNQ1:Gly119Ser	PROT:P51787	KCNQ1	G	119	S	G119S	Likely pathogenic	1	1	22	23
MUT:KCNQ1:Gly168Arg	PROT:P51787	KCNQ1	G	168	R	G168R	Pathogenic	1	4	22	16
MUT:KCNQ1:Gly179Arg	PROT:P51787	KCNQ1	G	179	R	G179R	Likely pathogenic	1	1	22	5
MUT:KCNQ1:Gly179Ser	PROT:P51787	KCNQ1	G	179	S	G179S	Pathogenic	1	5	22	5
MUT:KCNQ1:Gly186Asp	PROT:P51787	KCNQ1	G	186	D	G186D	Pathogenic/Likely pathogenic	1	4	22	2
MUT:KCNQ1:Gly186Ser	PROT:P51787	KCNQ1	G	186	S	G186S	Likely pathogenic	1	3	22	2
MUT:KCNQ1:Gly189Glu	PROT:P51787	KCNQ1	G	189	E	G189E	Likely pathogenic	1	3	22	5
MUT:KCNQ1:Gly229Asp	PROT:P51787	KCNQ1	G	229	D	G229D	Pathogenic/Likely pathogenic	1	4	22	30
MUT:KCNQ1:Gly269Arg	PROT:P51787	KCNQ1	G	269	R	G269R	Pathogenic/Likely pathogenic	1	1	22	2
MUT:KCNQ1:Gly269Asp	PROT:P51787	KCNQ1	G	269	D	G269D	Pathogenic/Likely pathogenic	1	4	22	2
MUT:KCNQ1:Gly269Ser	PROT:P51787	KCNQ1	G	269	S	G269S	Pathogenic	1	4	22	2
MUT:KCNQ1:Gly272Asp	PROT:P51787	KCNQ1	G	272	D	G272D	Pathogenic/Likely pathogenic	1	2	22	5
MUT:KCNQ1:Gly306Arg	PROT:P51787	KCNQ1	G	306	R	G306R	Pathogenic	1	2	22	39
MUT:KCNQ1:Gly306Val	PROT:P51787	KCNQ1	G	306	V	G306V	Likely pathogenic	1	1	22	39
MUT:KCNQ1:Gly314Arg	PROT:P51787	KCNQ1	G	314	R	G314R	Pathogenic/Likely pathogenic	1	2	22	47
MUT:KCNQ1:Gly314Asp	PROT:P51787	KCNQ1	G	314	D	G314D	Pathogenic	1	2	22	47
MUT:KCNQ1:Gly314Ser	PROT:P51787	KCNQ1	G	314	S	G314S	Pathogenic	1	3	22	47
MUT:KCNQ1:Gly316Ala	PROT:P51787	KCNQ1	G	316	A	G316A	Likely pathogenic	1	1	22	49
MUT:KCNQ1:Gly316Arg	PROT:P51787	KCNQ1	G	316	R	G316R	Pathogenic/Likely pathogenic	1	3	22	49
MUT:KCNQ1:Gly316Glu	PROT:P51787	KCNQ1	G	316	E	G316E	Pathogenic	1	2	22	49
MUT:KCNQ1:Gly316Trp	PROT:P51787	KCNQ1	G	316	W	G316W	Pathogenic/Likely pathogenic	1	1	22	49
MUT:KCNQ1:Gly325Arg	PROT:P51787	KCNQ1	G	325	R	G325R	Pathogenic	1	3	22	58
MUT:KCNQ1:Gly325Trp	PROT:P51787	KCNQ1	G	325	W	G325W	Likely pathogenic	1	1	22	58
MUT:KCNQ1:Gly345Arg	PROT:P51787	KCNQ1	G	345	R	G345R	Pathogenic	1	2	22	59
MUT:KCNQ1:Gly345Glu	PROT:P51787	KCNQ1	G	345	E	G345E	Pathogenic/Likely pathogenic	1	4	22	59
MUT:KCNQ1:Gly568Ala	PROT:P51787	KCNQ1	G	568	A	G568A	Pathogenic/Likely pathogenic	1	3	22	9
MUT:KCNQ1:Gly568Arg	PROT:P51787	KCNQ1	G	568	R	G568R	Pathogenic/Likely pathogenic	1	2	22	9
MUT:KCNQ1:Gly589Asp	PROT:P51787	KCNQ1	G	589	D	G589D	Pathogenic	1	5	22	9
MUT:KCNQ1:Gly643Ser	PROT:P51787	KCNQ1	G	643	S	G643S	Benign	0	6	22	33
MUT:KCNQ1:His258Arg	PROT:P51787	KCNQ1	H	258	R	H258R	Likely pathogenic	1	2	22	9
MUT:KCNQ1:His258Pro	PROT:P51787	KCNQ1	H	258	P	H258P	Pathogenic	1	2	22	9
MUT:KCNQ1:Ile235Asn	PROT:P51787	KCNQ1	I	235	N	I235N	Pathogenic	1	3	22	32
MUT:KCNQ1:Ile235Leu	PROT:P51787	KCNQ1	I	235	L	I235L	Likely pathogenic	1	1	22	32
MUT:KCNQ1:Ile567Thr	PROT:P51787	KCNQ1	I	567	T	I567T	Pathogenic/Likely pathogenic	1	4	22	10
MUT:KCNQ1:Ile588Thr	PROT:P51787	KCNQ1	I	588	T	I588T	Likely pathogenic	1	1	22	9
MUT:KCNQ1:Leu114Pro	PROT:P51787	KCNQ1	L	114	P	L114P	Likely pathogenic	1	2	22	18
MUT:KCNQ1:Leu156Pro	PROT:P51787	KCNQ1	L	156	P	L156P	Pathogenic/Likely pathogenic	1	1	22	28
MUT:KCNQ1:Leu191Pro	PROT:P51787	KCNQ1	L	191	P	L191P	Pathogenic	1	2	22	7
MUT:KCNQ1:Leu203Pro	PROT:P51787	KCNQ1	L	203	P	L203P	Pathogenic	1	2	22	4
MUT:KCNQ1:Leu233Met	PROT:P51787	KCNQ1	L	233	M	L233M	Likely pathogenic	1	1	22	34
MUT:KCNQ1:Leu251Gln	PROT:P51787	KCNQ1	L	251	Q	L251Q	Likely pathogenic	1	1	22	16
MUT:KCNQ1:Leu251Pro	PROT:P51787	KCNQ1	L	251	P	L251P	Pathogenic	1	3	22	16
MUT:KCNQ1:Leu262Gln	PROT:P51787	KCNQ1	L	262	Q	L262Q	Likely pathogenic	1	1	22	5
MUT:KCNQ1:Leu262Pro	PROT:P51787	KCNQ1	L	262	P	L262P	Pathogenic/Likely pathogenic	1	3	22	5
MUT:KCNQ1:Leu266Pro	PROT:P51787	KCNQ1	L	266	P	L266P	Pathogenic/Likely pathogenic	1	4	22	1
MUT:KCNQ1:Leu273Arg	PROT:P51787	KCNQ1	L	273	R	L273R	Likely pathogenic	1	2	22	6
MUT:KCNQ1:Leu273Ile	PROT:P51787	KCNQ1	L	273	I	L273I	Likely pathogenic	1	1	22	6
MUT:KCNQ1:Leu273Phe	PROT:P51787	KCNQ1	L	273	F	L273F	Likely pathogenic	1	3	22	6
MUT:KCNQ1:Leu273Pro	PROT:P51787	KCNQ1	L	273	P	L273P	Likely pathogenic	1	1	22	6
MUT:KCNQ1:Leu303Pro	PROT:P51787	KCNQ1	L	303	P	L303P	Likely pathogenic	1	2	22	36
MUT:KCNQ1:Leu342Phe	PROT:P51787	KCNQ1	L	342	F	L342F	Pathogenic/Likely pathogenic	1	2	22	62
MUT:KCNQ1:Leu374His	PROT:P51787	KCNQ1	L	374	H	L374H	Pathogenic/Likely pathogenic	1	3	22	30
MUT:KCNQ1:Lys362Arg	PROT:P51787	KCNQ1	K	362	R	K362R	Pathogenic/Likely pathogenic	1	5	22	42
MUT:KCNQ1:Lys527Glu	PROT:P51787	KCNQ1	K	527	E	K527E	Likely pathogenic	1	1	22	14
MUT:KCNQ1:Lys557Glu	PROT:P51787	KCNQ1	K	557	E	K557E	Pathogenic	1	2	22	20
MUT:KCNQ1:Met1Leu	PROT:P51787	KCNQ1	M	1	L	M1L	Pathogenic	1	1	22	26
MUT:KCNQ1:Met520Arg	PROT:P51787	KCNQ1	M	520	R	M520R	Pathogenic/Likely pathogenic	1	3	22	7
MUT:KCNQ1:Met520Lys	PROT:P51787	KCNQ1	M	520	K	M520K	Likely pathogenic	1	1	22	7
MUT:KCNQ1:Met520Thr	PROT:P51787	KCNQ1	M	520	T	M520T	Pathogenic	1	1	22	7
MUT:KCNQ1:Phe279Ile	PROT:P51787	KCNQ1	F	279	I	F279I	Pathogenic	1	1	22	12
MUT:KCNQ1:Phe339Ser	PROT:P51787	KCNQ1	F	339	S	F339S	Pathogenic/Likely pathogenic	1	3	22	65
MUT:KCNQ1:Phe340Leu	PROT:P51787	KCNQ1	F	340	L	F340L	Likely pathogenic	1	2	22	64
MUT:KCNQ1:Pro117Leu	PROT:P51787	KCNQ1	P	117	L	P117L	Likely pathogenic	1	3	22	21
MUT:KCNQ1:Pro117Ser	PROT:P51787	KCNQ1	P	117	S	P117S	Likely pathogenic	1	1	22	21
MUT:KCNQ1:Pro117Thr	PROT:P51787	KCNQ1	P	117	T	P117T	Likely pathogenic	1	1	22	21
MUT:KCNQ1:Pro320His	PROT:P51787	KCNQ1	P	320	H	P320H	Pathogenic	1	2	22	53
MUT:KCNQ1:Pro320Leu	PROT:P51787	KCNQ1	P	320	L	P320L	Likely pathogenic	1	1	22	53
MUT:KCNQ1:Pro320Thr	PROT:P51787	KCNQ1	P	320	T	P320T	Likely pathogenic	1	1	22	53
MUT:KCNQ1:Pro343Ala	PROT:P51787	KCNQ1	P	343	A	P343A	Pathogenic	1	1	22	61
MUT:KCNQ1:Pro343Ser	PROT:P51787	KCNQ1	P	343	S	P343S	Pathogenic/Likely pathogenic	1	2	22	61
MUT:KCNQ1:Pro408Ala	PROT:P51787	KCNQ1	P	408	A	P408A	Benign/Likely benign	0	6	22	1
MUT:KCNQ1:Pro448Arg	PROT:P51787	KCNQ1	P	448	R	P448R	Benign	0	6	22	9
MUT:KCNQ1:Ser140Gly	PROT:P51787	KCNQ1	S	140	G	S140G	Pathogenic	1	2	22	44
MUT:KCNQ1:Ser199Ala	PROT:P51787	KCNQ1	S	199	A	S199A	Pathogenic	1	2	22	0
MUT:KCNQ1:Ser209Pro	PROT:P51787	KCNQ1	S	209	P	S209P	Pathogenic	1	3	22	10
MUT:KCNQ1:Ser225Leu	PROT:P51787	KCNQ1	S	225	L	S225L	Likely pathogenic	1	5	22	26
MUT:KCNQ1:Ser225Trp	PROT:P51787	KCNQ1	S	225	W	S225W	Likely pathogenic	1	1	22	26
MUT:KCNQ1:Ser277Leu	PROT:P51787	KCNQ1	S	277	L	S277L	Pathogenic	1	5	22	10
MUT:KCNQ1:Ser277Trp	PROT:P51787	KCNQ1	S	277	W	S277W	Pathogenic	1	2	22	10
MUT:KCNQ1:Ser338Phe	PROT:P51787	KCNQ1	S	338	F	S338F	Pathogenic/Likely pathogenic	1	2	22	66
MUT:KCNQ1:Ser349Trp	PROT:P51787	KCNQ1	S	349	W	S349W	Pathogenic/Likely pathogenic	1	2	22	55
MUT:KCNQ1:Ser546Leu	PROT:P51787	KCNQ1	S	546	L	S546L	Pathogenic	1	4	22	31
MUT:KCNQ1:Ser566Phe	PROT:P51787	KCNQ1	S	566	F	S566F	Pathogenic/Likely pathogenic	1	4	22	11
MUT:KCNQ1:Ser566Tyr	PROT:P51787	KCNQ1	S	566	Y	S566Y	Pathogenic/Likely pathogenic	1	3	22	11
MUT:KCNQ1:Thr153Met	PROT:P51787	KCNQ1	T	153	M	T153M	Likely benign	0	4	22	31
MUT:KCNQ1:Thr169Arg	PROT:P51787	KCNQ1	T	169	R	T169R	Likely pathogenic	1	2	22	15
MUT:KCNQ1:Thr224Met	PROT:P51787	KCNQ1	T	224	M	T224M	Pathogenic/Likely pathogenic	1	3	22	25
MUT:KCNQ1:Thr265Ile	PROT:P51787	KCNQ1	T	265	I	T265I	Pathogenic	1	1	22	2
MUT:KCNQ1:Thr309Ala	PROT:P51787	KCNQ1	T	309	A	T309A	Likely pathogenic	1	1	22	42
MUT:KCNQ1:Thr309Ile	PROT:P51787	KCNQ1	T	309	I	T309I	Pathogenic	1	2	22	42
MUT:KCNQ1:Thr312Ile	PROT:P51787	KCNQ1	T	312	I	T312I	Pathogenic/Likely pathogenic	1	4	22	45
MUT:KCNQ1:Thr312Ser	PROT:P51787	KCNQ1	T	312	S	T312S	Likely pathogenic	1	2	22	45
MUT:KCNQ1:Thr322Ala	PROT:P51787	KCNQ1	T	322	A	T322A	Pathogenic/Likely pathogenic	1	4	22	55
MUT:KCNQ1:Thr322Arg	PROT:P51787	KCNQ1	T	322	R	T322R	Pathogenic/Likely pathogenic	1	1	22	55
MUT:KCNQ1:Thr322Met	PROT:P51787	KCNQ1	T	322	M	T322M	Pathogenic	1	4	22	55
MUT:KCNQ1:Thr322Pro	PROT:P51787	KCNQ1	T	322	P	T322P	Likely pathogenic	1	1	22	55
MUT:KCNQ1:Thr587Arg	PROT:P51787	KCNQ1	T	587	R	T587R	Likely pathogenic	1	1	22	8
MUT:KCNQ1:Thr587Met	PROT:P51787	KCNQ1	T	587	M	T587M	Pathogenic	1	5	22	8
MUT:KCNQ1:Trp176Ser	PROT:P51787	KCNQ1	W	176	S	W176S	Likely pathogenic	1	1	22	8
MUT:KCNQ1:Trp248Arg	PROT:P51787	KCNQ1	W	248	R	W248R	Pathogenic/Likely pathogenic	1	2	22	19
MUT:KCNQ1:Trp304Arg	PROT:P51787	KCNQ1	W	304	R	W304R	Pathogenic	1	2	22	37
MUT:KCNQ1:Trp304Gly	PROT:P51787	KCNQ1	W	304	G	W304G	Likely pathogenic	1	1	22	37
MUT:KCNQ1:Trp304Leu	PROT:P51787	KCNQ1	W	304	L	W304L	Likely pathogenic	1	1	22	37
MUT:KCNQ1:Trp305Cys	PROT:P51787	KCNQ1	W	305	C	W305C	Likely pathogenic	1	2	22	38
MUT:KCNQ1:Trp305Ser	PROT:P51787	KCNQ1	W	305	S	W305S	Pathogenic/Likely pathogenic	1	3	22	38
MUT:KCNQ1:Trp392Arg	PROT:P51787	KCNQ1	W	392	R	W392R	Pathogenic/Likely pathogenic	1	1	22	12
MUT:KCNQ1:Tyr111Cys	PROT:P51787	KCNQ1	Y	111	C	Y111C	Pathogenic	1	3	22	15
MUT:KCNQ1:Tyr111Ser	PROT:P51787	KCNQ1	Y	111	S	Y111S	Likely pathogenic	1	1	22	15
MUT:KCNQ1:Tyr125Asn	PROT:P51787	KCNQ1	Y	125	N	Y125N	Likely pathogenic	1	1	22	29
MUT:KCNQ1:Tyr184His	PROT:P51787	KCNQ1	Y	184	H	Y184H	Likely pathogenic	1	3	22	0
MUT:KCNQ1:Tyr184Ser	PROT:P51787	KCNQ1	Y	184	S	Y184S	Pathogenic/Likely pathogenic	1	2	22	0
MUT:KCNQ1:Tyr281Cys	PROT:P51787	KCNQ1	Y	281	C	Y281C	Likely pathogenic	1	1	22	14
MUT:KCNQ1:Tyr315Asn	PROT:P51787	KCNQ1	Y	315	N	Y315N	Likely pathogenic	1	1	22	48
MUT:KCNQ1:Tyr315Cys	PROT:P51787	KCNQ1	Y	315	C	Y315C	Pathogenic/Likely pathogenic	1	4	22	48
MUT:KCNQ1:Tyr315His	PROT:P51787	KCNQ1	Y	315	H	Y315H	Pathogenic/Likely pathogenic	1	1	22	48
MUT:KCNQ1:Tyr315Phe	PROT:P51787	KCNQ1	Y	315	F	Y315F	Likely pathogenic	1	2	22	48
MUT:KCNQ1:Tyr315Ser	PROT:P51787	KCNQ1	Y	315	S	Y315S	Pathogenic	1	2	22	48
MUT:KCNQ1:Tyr522Ser	PROT:P51787	KCNQ1	Y	522	S	Y522S	Pathogenic/Likely pathogenic	1	1	22	9
MUT:KCNQ1:Tyr545Phe	PROT:P51787	KCNQ1	Y	545	F	Y545F	Pathogenic	1	1	22	32
MUT:KCNQ1:Val141Met	PROT:P51787	KCNQ1	V	141	M	V141M	Pathogenic/Likely pathogenic	1	4	22	43
MUT:KCNQ1:Val172Met	PROT:P51787	KCNQ1	V	172	M	V172M	Benign	0	7	22	12
MUT:KCNQ1:Val173Asp	PROT:P51787	KCNQ1	V	173	D	V173D	Pathogenic	1	2	22	11
MUT:KCNQ1:Val205Met	PROT:P51787	KCNQ1	V	205	M	V205M	Pathogenic	1	5	22	6
MUT:KCNQ1:Val207Met	PROT:P51787	KCNQ1	V	207	M	V207M	Likely benign	0	3	22	8
MUT:KCNQ1:Val241Phe	PROT:P51787	KCNQ1	V	241	F	V241F	Likely pathogenic	1	1	22	26
MUT:KCNQ1:Val254Leu	PROT:P51787	KCNQ1	V	254	L	V254L	Likely pathogenic	1	1	22	13
MUT:KCNQ1:Val254Met	PROT:P51787	KCNQ1	V	254	M	V254M	Pathogenic	1	3	22	13
MUT:KCNQ1:Val280Ala	PROT:P51787	KCNQ1	V	280	A	V280A	Likely pathogenic	1	1	22	13
MUT:KCNQ1:Val280Glu	PROT:P51787	KCNQ1	V	280	E	V280E	Pathogenic/Likely pathogenic	1	3	22	13
MUT:KCNQ1:Val310Ile	PROT:P51787	KCNQ1	V	310	I	V310I	Likely pathogenic	1	3	22	43
MUT:KCNQ1:Val417Met	PROT:P51787	KCNQ1	V	417	M	V417M	Likely benign	0	1	22	8
MUT:KCNQ1:Val418Ile	PROT:P51787	KCNQ1	V	418	I	V418I	Likely benign	0	3	22	9
MUT:KCNQ1:Val524Gly	PROT:P51787	KCNQ1	V	524	G	V524G	Pathogenic	1	2	22	11
MUT:KCNQ1:Val648Ile	PROT:P51787	KCNQ1	V	648	I	V648I	Benign/Likely benign	0	6	22	38
MUT:KCNQ2:Ala178Val	PROT:O43526	KCNQ2	A	178	V	A178V	Likely pathogenic	1	1	19	39
MUT:KCNQ2:Ala185Thr	PROT:O43526	KCNQ2	A	185	T	A185T	Pathogenic/Likely pathogenic	1	3	19	32
MUT:KCNQ2:Ala193Asp	PROT:O43526	KCNQ2	A	193	D	A193D	Pathogenic	1	2	19	24
MUT:KCNQ2:Ala193Val	PROT:O43526	KCNQ2	A	193	V	A193V	Pathogenic/Likely pathogenic	1	1	19	24
MUT:KCNQ2:Ala196Val	PROT:O43526	KCNQ2	A	196	V	A196V	Pathogenic	1	5	19	21
MUT:KCNQ2:Ala227Val	PROT:O43526	KCNQ2	A	227	V	A227V	Likely pathogenic	1	1	19	1
MUT:KCNQ2:Ala235Gly	PROT:O43526	KCNQ2	A	235	G	A235G	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Ala235Val	PROT:O43526	KCNQ2	A	235	V	A235V	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Ala246Val	PROT:O43526	KCNQ2	A	246	V	A246V	Pathogenic	1	1	19	9
MUT:KCNQ2:Ala253Ser	PROT:O43526	KCNQ2	A	253	S	A253S	Pathogenic	1	1	19	16
MUT:KCNQ2:Ala253Thr	PROT:O43526	KCNQ2	A	253	T	A253T	Likely pathogenic	1	1	19	16
MUT:KCNQ2:Ala265Ser	PROT:O43526	KCNQ2	A	265	S	A265S	Pathogenic/Likely pathogenic	1	1	19	28
MUT:KCNQ2:Ala265Thr	PROT:O43526	KCNQ2	A	265	T	A265T	Pathogenic/Likely pathogenic	1	3	19	28
MUT:KCNQ2:Ala265Val	PROT:O43526	KCNQ2	A	265	V	A265V	Pathogenic/Likely pathogenic	1	5	19	28
MUT:KCNQ2:Ala294Glu	PROT:O43526	KCNQ2	A	294	E	A294E	Pathogenic	1	1	19	57
MUT:KCNQ2:Ala294Gly	PROT:O43526	KCNQ2	A	294	G	A294G	Likely pathogenic	1	3	19	57
MUT:KCNQ2:Ala294Ser	PROT:O43526	KCNQ2	A	294	S	A294S	Likely pathogenic	1	1	19	57
MUT:KCNQ2:Ala294Thr	PROT:O43526	KCNQ2	A	294	T	A294T	Likely pathogenic	1	1	19	57
MUT:KCNQ2:Ala294Val	PROT:O43526	KCNQ2	A	294	V	A294V	Pathogenic	1	7	19	57
MUT:KCNQ2:Ala306Glu	PROT:O43526	KCNQ2	A	306	E	A306E	Pathogenic/Likely pathogenic	1	1	19	46
MUT:KCNQ2:Ala306Pro	PROT:O43526	KCNQ2	A	306	P	A306P	Pathogenic	1	1	19	46
MUT:KCNQ2:Ala306Thr	PROT:O43526	KCNQ2	A	306	T	A306T	Pathogenic	1	4	19	46
MUT:KCNQ2:Ala306Val	PROT:O43526	KCNQ2	A	306	V	A306V	Pathogenic	1	5	19	46
MUT:KCNQ2:Ala309Val	PROT:O43526	KCNQ2	A	309	V	A309V	Pathogenic	1	2	19	43
MUT:KCNQ2:Ala317Thr	PROT:O43526	KCNQ2	A	317	T	A317T	Pathogenic/Likely pathogenic	1	1	19	35
MUT:KCNQ2:Ala336Thr	PROT:O43526	KCNQ2	A	336	T	A336T	Likely pathogenic	1	1	19	16
MUT:KCNQ2:Ala337Gly	PROT:O43526	KCNQ2	A	337	G	A337G	Pathogenic	1	1	19	15
MUT:KCNQ2:Ala343Pro	PROT:O43526	KCNQ2	A	343	P	A343P	Likely pathogenic	1	1	19	9
MUT:KCNQ2:Ala343Thr	PROT:O43526	KCNQ2	A	343	T	A343T	Pathogenic	1	1	19	9
MUT:KCNQ2:Ala348Thr	PROT:O43526	KCNQ2	A	348	T	A348T	Pathogenic/Likely pathogenic	1	2	19	4
MUT:KCNQ2:Ala611Val	PROT:O43526	KCNQ2	A	611	V	A611V	Benign/Likely benign	0	1	19	24
MUT:KCNQ2:Ala62Val	PROT:O43526	KCNQ2	A	62	V	A62V	Likely benign	0	1	19	10
MUT:KCNQ2:Arg144Gln	PROT:O43526	KCNQ2	R	144	Q	R144Q	Pathogenic/Likely pathogenic	1	5	19	73
MUT:KCNQ2:Arg144Gly	PROT:O43526	KCNQ2	R	144	G	R144G	Pathogenic/Likely pathogenic	1	2	19	73
MUT:KCNQ2:Arg144Trp	PROT:O43526	KCNQ2	R	144	W	R144W	Pathogenic/Likely pathogenic	1	4	19	73
MUT:KCNQ2:Arg198Gln	PROT:O43526	KCNQ2	R	198	Q	R198Q	Pathogenic	1	3	19	19
MUT:KCNQ2:Arg198Gly	PROT:O43526	KCNQ2	R	198	G	R198G	Likely pathogenic	1	1	19	19
MUT:KCNQ2:Arg198Pro	PROT:O43526	KCNQ2	R	198	P	R198P	Likely pathogenic	1	1	19	19
MUT:KCNQ2:Arg198Trp	PROT:O43526	KCNQ2	R	198	W	R198W	Likely pathogenic	1	1	19	19
MUT:KCNQ2:Arg201Cys	PROT:O43526	KCNQ2	R	201	C	R201C	Pathogenic	1	4	19	16
MUT:KCNQ2:Arg201Gly	PROT:O43526	KCNQ2	R	201	G	R201G	Pathogenic	1	1	19	16
MUT:KCNQ2:Arg201His	PROT:O43526	KCNQ2	R	201	H	R201H	Pathogenic	1	4	19	16
MUT:KCNQ2:Arg207Gln	PROT:O43526	KCNQ2	R	207	Q	R207Q	Pathogenic	1	5	19	10
MUT:KCNQ2:Arg207Pro	PROT:O43526	KCNQ2	R	207	P	R207P	Likely pathogenic	1	1	19	10
MUT:KCNQ2:Arg207Trp	PROT:O43526	KCNQ2	R	207	W	R207W	Pathogenic	1	6	19	10
MUT:KCNQ2:Arg210Cys	PROT:O43526	KCNQ2	R	210	C	R210C	Pathogenic/Likely pathogenic	1	4	19	7
MUT:KCNQ2:Arg210His	PROT:O43526	KCNQ2	R	210	H	R210H	Pathogenic	1	3	19	7
MUT:KCNQ2:Arg210Pro	PROT:O43526	KCNQ2	R	210	P	R210P	Pathogenic/Likely pathogenic	1	2	19	7
MUT:KCNQ2:Arg213Gln	PROT:O43526	KCNQ2	R	213	Q	R213Q	Pathogenic/Likely pathogenic	1	2	19	4
MUT:KCNQ2:Arg213Gly	PROT:O43526	KCNQ2	R	213	G	R213G	Likely pathogenic	1	1	19	4
MUT:KCNQ2:Arg213Leu	PROT:O43526	KCNQ2	R	213	L	R213L	Pathogenic/Likely pathogenic	1	2	19	4
MUT:KCNQ2:Arg213Trp	PROT:O43526	KCNQ2	R	213	W	R213W	Pathogenic	1	4	19	4
MUT:KCNQ2:Arg214Gln	PROT:O43526	KCNQ2	R	214	Q	R214Q	Pathogenic	1	3	19	3
MUT:KCNQ2:Arg214Trp	PROT:O43526	KCNQ2	R	214	W	R214W	Pathogenic/Likely pathogenic	1	4	19	3
MUT:KCNQ2:Arg291Ser	PROT:O43526	KCNQ2	R	291	S	R291S	Likely pathogenic	1	2	19	54
MUT:KCNQ2:Arg325Gly	PROT:O43526	KCNQ2	R	325	G	R325G	Likely pathogenic	1	1	19	27
MUT:KCNQ2:Arg332Gly	PROT:O43526	KCNQ2	R	332	G	R332G	Pathogenic/Likely pathogenic	1	1	19	20
MUT:KCNQ2:Arg332Lys	PROT:O43526	KCNQ2	R	332	K	R332K	Pathogenic/Likely pathogenic	1	1	19	20
MUT:KCNQ2:Arg333Gln	PROT:O43526	KCNQ2	R	333	Q	R333Q	Pathogenic	1	4	19	19
MUT:KCNQ2:Arg333Leu	PROT:O43526	KCNQ2	R	333	L	R333L	Likely pathogenic	1	1	19	19
MUT:KCNQ2:Arg333Trp	PROT:O43526	KCNQ2	R	333	W	R333W	Pathogenic/Likely pathogenic	1	6	19	19
MUT:KCNQ2:Arg353Cys	PROT:O43526	KCNQ2	R	353	C	R353C	Pathogenic/Likely pathogenic	1	2	19	1
MUT:KCNQ2:Arg353Gly	PROT:O43526	KCNQ2	R	353	G	R353G	Pathogenic	1	2	19	1
MUT:KCNQ2:Arg353His	PROT:O43526	KCNQ2	R	353	H	R353H	Pathogenic	1	2	19	1
MUT:KCNQ2:Arg353Pro	PROT:O43526	KCNQ2	R	353	P	R353P	Likely pathogenic	1	1	19	1
MUT:KCNQ2:Arg541Gly	PROT:O43526	KCNQ2	R	541	G	R541G	Pathogenic	1	2	19	10
MUT:KCNQ2:Arg547Gly	PROT:O43526	KCNQ2	R	547	G	R547G	Likely pathogenic	1	1	19	4
MUT:KCNQ2:Arg547Leu	PROT:O43526	KCNQ2	R	547	L	R547L	Likely pathogenic	1	1	19	4
MUT:KCNQ2:Arg547Trp	PROT:O43526	KCNQ2	R	547	W	R547W	Pathogenic/Likely pathogenic	1	3	19	4
MUT:KCNQ2:Arg553Gln	PROT:O43526	KCNQ2	R	553	Q	R553Q	Pathogenic	1	3	19	2
MUT:KCNQ2:Arg553Gly	PROT:O43526	KCNQ2	R	553	G	R553G	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Arg553Leu	PROT:O43526	KCNQ2	R	553	L	R553L	Pathogenic	1	1	19	2
MUT:KCNQ2:Arg553Pro	PROT:O43526	KCNQ2	R	553	P	R553P	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Arg553Trp	PROT:O43526	KCNQ2	R	553	W	R553W	Pathogenic	1	4	19	2
MUT:KCNQ2:Arg560Gln	PROT:O43526	KCNQ2	R	560	Q	R560Q	Pathogenic/Likely pathogenic	1	4	19	2
MUT:KCNQ2:Arg560Pro	PROT:O43526	KCNQ2	R	560	P	R560P	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Arg560Trp	PROT:O43526	KCNQ2	R	560	W	R560W	Pathogenic/Likely pathogenic	1	5	19	2
MUT:KCNQ2:Arg581Gln	PROT:O43526	KCNQ2	R	581	Q	R581Q	Pathogenic/Likely pathogenic	1	4	19	19
MUT:KCNQ2:Arg581Gly	PROT:O43526	KCNQ2	R	581	G	R581G	Pathogenic	1	2	19	19
MUT:KCNQ2:Arg58Ser	PROT:O43526	KCNQ2	R	58	S	R58S	Pathogenic	1	1	19	6
MUT:KCNQ2:Arg622Pro	PROT:O43526	KCNQ2	R	622	P	R622P	Pathogenic	1	1	19	13
MUT:KCNQ2:Arg677Trp	PROT:O43526	KCNQ2	R	677	W	R677W	Likely pathogenic	1	1	19	5
MUT:KCNQ2:Arg854Cys	PROT:O43526	KCNQ2	R	854	C	R854C	Benign	0	3	19	33
MUT:KCNQ2:Arg871Ser	PROT:O43526	KCNQ2	R	871	S	R871S	Benign/Likely benign	0	3	19	50
MUT:KCNQ2:Asn190His	PROT:O43526	KCNQ2	N	190	H	N190H	Likely pathogenic	1	1	19	27
MUT:KCNQ2:Asn190Ile	PROT:O43526	KCNQ2	N	190	I	N190I	Pathogenic	1	1	19	27
MUT:KCNQ2:Asn190Ser	PROT:O43526	KCNQ2	N	190	S	N190S	Pathogenic	1	2	19	27
MUT:KCNQ2:Asn258Asp	PROT:O43526	KCNQ2	N	258	D	N258D	Likely pathogenic	1	1	19	21
MUT:KCNQ2:Asn258Lys	PROT:O43526	KCNQ2	N	258	K	N258K	Pathogenic	1	3	19	21
MUT:KCNQ2:Asn258Ser	PROT:O43526	KCNQ2	N	258	S	N258S	Pathogenic	1	2	19	21
MUT:KCNQ2:Asn350Lys	PROT:O43526	KCNQ2	N	350	K	N350K	Likely pathogenic	1	2	19	2
MUT:KCNQ2:Asn350Tyr	PROT:O43526	KCNQ2	N	350	Y	N350Y	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Asn780Thr	PROT:O43526	KCNQ2	N	780	T	N780T	Benign	0	4	19	18
MUT:KCNQ2:Asp172Gly	PROT:O43526	KCNQ2	D	172	G	D172G	Likely pathogenic	1	1	19	45
MUT:KCNQ2:Asp212Ala	PROT:O43526	KCNQ2	D	212	A	D212A	Pathogenic	1	1	19	5
MUT:KCNQ2:Asp212Asn	PROT:O43526	KCNQ2	D	212	N	D212N	Likely pathogenic	1	1	19	5
MUT:KCNQ2:Asp212Gly	PROT:O43526	KCNQ2	D	212	G	D212G	Pathogenic	1	3	19	5
MUT:KCNQ2:Asp259Gly	PROT:O43526	KCNQ2	D	259	G	D259G	Likely pathogenic	1	2	19	22
MUT:KCNQ2:Asp259Tyr	PROT:O43526	KCNQ2	D	259	Y	D259Y	Pathogenic	1	1	19	22
MUT:KCNQ2:Asp266Asn	PROT:O43526	KCNQ2	D	266	N	D266N	Likely pathogenic	1	1	19	29
MUT:KCNQ2:Asp266Glu	PROT:O43526	KCNQ2	D	266	E	D266E	Pathogenic	1	1	19	29
MUT:KCNQ2:Asp266Gly	PROT:O43526	KCNQ2	D	266	G	D266G	Pathogenic	1	1	19	29
MUT:KCNQ2:Asp266His	PROT:O43526	KCNQ2	D	266	H	D266H	Pathogenic	1	1	19	29
MUT:KCNQ2:Asp266Val	PROT:O43526	KCNQ2	D	266	V	D266V	Likely pathogenic	1	1	19	29
MUT:KCNQ2:Asp282Asn	PROT:O43526	KCNQ2	D	282	N	D282N	Pathogenic/Likely pathogenic	1	1	19	45
MUT:KCNQ2:Asp282Glu	PROT:O43526	KCNQ2	D	282	E	D282E	Pathogenic	1	2	19	45
MUT:KCNQ2:Asp282His	PROT:O43526	KCNQ2	D	282	H	D282H	Pathogenic/Likely pathogenic	1	2	19	45
MUT:KCNQ2:Asp282Val	PROT:O43526	KCNQ2	D	282	V	D282V	Pathogenic	1	1	19	45
MUT:KCNQ2:Asp355Gly	PROT:O43526	KCNQ2	D	355	G	D355G	Pathogenic	1	1	19	3
MUT:KCNQ2:Asp355Val	PROT:O43526	KCNQ2	D	355	V	D355V	Likely pathogenic	1	1	19	3
MUT:KCNQ2:Asp563Asn	PROT:O43526	KCNQ2	D	563	N	D563N	Pathogenic	1	3	19	1
MUT:KCNQ2:Asp563Gly	PROT:O43526	KCNQ2	D	563	G	D563G	Pathogenic	1	1	19	1
MUT:KCNQ2:Asp566Asn	PROT:O43526	KCNQ2	D	566	N	D566N	Pathogenic	1	1	19	4
MUT:KCNQ2:Cys106Gly	PROT:O43526	KCNQ2	C	106	G	C106G	Likely pathogenic	1	1	19	54
MUT:KCNQ2:Cys169Phe	PROT:O43526	KCNQ2	C	169	F	C169F	Likely pathogenic	1	1	19	48
MUT:KCNQ2:Cys242Gly	PROT:O43526	KCNQ2	C	242	G	C242G	Likely pathogenic	1	1	19	5
MUT:KCNQ2:Cys242Phe	PROT:O43526	KCNQ2	C	242	F	C242F	Pathogenic	1	1	19	5
MUT:KCNQ2:Cys242Tyr	PROT:O43526	KCNQ2	C	242	Y	C242Y	Likely pathogenic	1	1	19	5
MUT:KCNQ2:Gln188Arg	PROT:O43526	KCNQ2	Q	188	R	Q188R	Likely pathogenic	1	1	19	29
MUT:KCNQ2:Gln188His	PROT:O43526	KCNQ2	Q	188	H	Q188H	Likely pathogenic	1	1	19	29
MUT:KCNQ2:Gln204His	PROT:O43526	KCNQ2	Q	204	H	Q204H	Likely pathogenic	1	2	19	13
MUT:KCNQ2:Gln341His	PROT:O43526	KCNQ2	Q	341	H	Q341H	Pathogenic	1	2	19	11
MUT:KCNQ2:Glu130Gly	PROT:O43526	KCNQ2	E	130	G	E130G	Pathogenic	1	1	19	78
MUT:KCNQ2:Glu130Lys	PROT:O43526	KCNQ2	E	130	K	E130K	Pathogenic	1	2	19	78
MUT:KCNQ2:Glu140Ala	PROT:O43526	KCNQ2	E	140	A	E140A	Likely pathogenic	1	1	19	77
MUT:KCNQ2:Glu231Asp	PROT:O43526	KCNQ2	E	231	D	E231D	Pathogenic/Likely pathogenic	1	2	19	2
MUT:KCNQ2:Glu254Ala	PROT:O43526	KCNQ2	E	254	A	E254A	Pathogenic	1	1	19	17
MUT:KCNQ2:Glu254Asp	PROT:O43526	KCNQ2	E	254	D	E254D	Likely pathogenic	1	1	19	17
MUT:KCNQ2:Glu257Gly	PROT:O43526	KCNQ2	E	257	G	E257G	Likely pathogenic	1	1	19	20
MUT:KCNQ2:Glu86Lys	PROT:O43526	KCNQ2	E	86	K	E86K	Likely pathogenic	1	1	19	34
MUT:KCNQ2:Gly159Arg	PROT:O43526	KCNQ2	G	159	R	G159R	Pathogenic	1	2	19	58
MUT:KCNQ2:Gly159Val	PROT:O43526	KCNQ2	G	159	V	G159V	Pathogenic	1	1	19	58
MUT:KCNQ2:Gly189Asp	PROT:O43526	KCNQ2	G	189	D	G189D	Likely pathogenic	1	1	19	28
MUT:KCNQ2:Gly189Val	PROT:O43526	KCNQ2	G	189	V	G189V	Pathogenic	1	1	19	28
MUT:KCNQ2:Gly215Val	PROT:O43526	KCNQ2	G	215	V	G215V	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Gly239Asp	PROT:O43526	KCNQ2	G	239	D	G239D	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Gly256Trp	PROT:O43526	KCNQ2	G	256	W	G256W	Pathogenic/Likely pathogenic	1	2	19	19
MUT:KCNQ2:Gly256Val	PROT:O43526	KCNQ2	G	256	V	G256V	Pathogenic	1	1	19	19
MUT:KCNQ2:Gly271Arg	PROT:O43526	KCNQ2	G	271	R	G271R	Pathogenic/Likely pathogenic	1	2	19	34
MUT:KCNQ2:Gly271Asp	PROT:O43526	KCNQ2	G	271	D	G271D	Pathogenic	1	1	19	34
MUT:KCNQ2:Gly271Ser	PROT:O43526	KCNQ2	G	271	S	G271S	Pathogenic/Likely pathogenic	1	2	19	34
MUT:KCNQ2:Gly279Asp	PROT:O43526	KCNQ2	G	279	D	G279D	Pathogenic/Likely pathogenic	1	3	19	42
MUT:KCNQ2:Gly279Ser	PROT:O43526	KCNQ2	G	279	S	G279S	Pathogenic	1	1	19	42
MUT:KCNQ2:Gly279Val	PROT:O43526	KCNQ2	G	279	V	G279V	Likely pathogenic	1	1	19	42
MUT:KCNQ2:Gly281Glu	PROT:O43526	KCNQ2	G	281	E	G281E	Pathogenic/Likely pathogenic	1	1	19	44
MUT:KCNQ2:Gly281Trp	PROT:O43526	KCNQ2	G	281	W	G281W	Pathogenic	1	2	19	44
MUT:KCNQ2:Gly290Asp	PROT:O43526	KCNQ2	G	290	D	G290D	Pathogenic	1	2	19	53
MUT:KCNQ2:Gly290Cys	PROT:O43526	KCNQ2	G	290	C	G290C	Pathogenic/Likely pathogenic	1	1	19	53
MUT:KCNQ2:Gly290Ser	PROT:O43526	KCNQ2	G	290	S	G290S	Pathogenic	1	2	19	53
MUT:KCNQ2:Gly290Val	PROT:O43526	KCNQ2	G	290	V	G290V	Pathogenic	1	1	19	53
MUT:KCNQ2:Gly301Asp	PROT:O43526	KCNQ2	G	301	D	G301D	Pathogenic	1	3	19	51
MUT:KCNQ2:Gly301Ser	PROT:O43526	KCNQ2	G	301	S	G301S	Pathogenic	1	4	19	51
MUT:KCNQ2:Gly301Val	PROT:O43526	KCNQ2	G	301	V	G301V	Likely pathogenic	1	1	19	51
MUT:KCNQ2:Gly310Ser	PROT:O43526	KCNQ2	G	310	S	G310S	Pathogenic/Likely pathogenic	1	2	19	42
MUT:KCNQ2:Gly313Arg	PROT:O43526	KCNQ2	G	313	R	G313R	Pathogenic/Likely pathogenic	1	2	19	39
MUT:KCNQ2:Gly315Arg	PROT:O43526	KCNQ2	G	315	R	G315R	Pathogenic	1	2	19	37
MUT:KCNQ2:Gly38Arg	PROT:O43526	KCNQ2	G	38	R	G38R	Likely benign	0	1	19	11
MUT:KCNQ2:Gly418Val	PROT:O43526	KCNQ2	G	418	V	G418V	Likely benign	0	2	19	54
MUT:KCNQ2:Gly574Asp	PROT:O43526	KCNQ2	G	574	D	G574D	Likely pathogenic	1	2	19	12
MUT:KCNQ2:Gly574Ser	PROT:O43526	KCNQ2	G	574	S	G574S	Pathogenic/Likely pathogenic	1	2	19	12
MUT:KCNQ2:Gly756Ser	PROT:O43526	KCNQ2	G	756	S	G756S	Benign/Likely benign	0	3	19	1
MUT:KCNQ2:Gly9Asp	PROT:O43526	KCNQ2	G	9	D	G9D	Likely pathogenic	1	1	19	40
MUT:KCNQ2:His228Arg	PROT:O43526	KCNQ2	H	228	R	H228R	Pathogenic/Likely pathogenic	1	3	19	1
MUT:KCNQ2:His228Asp	PROT:O43526	KCNQ2	H	228	D	H228D	Likely pathogenic	1	1	19	1
MUT:KCNQ2:His228Gln	PROT:O43526	KCNQ2	H	228	Q	H228Q	Pathogenic	1	3	19	1
MUT:KCNQ2:His228Tyr	PROT:O43526	KCNQ2	H	228	Y	H228Y	Likely pathogenic	1	1	19	1
MUT:KCNQ2:His260Tyr	PROT:O43526	KCNQ2	H	260	Y	H260Y	Pathogenic/Likely pathogenic	1	2	19	23
MUT:KCNQ2:His324Tyr	PROT:O43526	KCNQ2	H	324	Y	H324Y	Likely pathogenic	1	1	19	28
MUT:KCNQ2:His96Asn	PROT:O43526	KCNQ2	H	96	N	H96N	Pathogenic	1	1	19	44
MUT:KCNQ2:Ile134Asn	PROT:O43526	KCNQ2	I	134	N	I134N	Likely pathogenic	1	1	19	82
MUT:KCNQ2:Ile205Val	PROT:O43526	KCNQ2	I	205	V	I205V	Pathogenic	1	2	19	12
MUT:KCNQ2:Ile209Ser	PROT:O43526	KCNQ2	I	209	S	I209S	Pathogenic/Likely pathogenic	1	2	19	8
MUT:KCNQ2:Ile209Thr	PROT:O43526	KCNQ2	I	209	T	I209T	Pathogenic	1	2	19	8
MUT:KCNQ2:Ile238Met	PROT:O43526	KCNQ2	I	238	M	I238M	Likely pathogenic	1	1	19	1
MUT:KCNQ2:Ile273Met	PROT:O43526	KCNQ2	I	273	M	I273M	Pathogenic/Likely pathogenic	1	1	19	36
MUT:KCNQ2:Ile278Met	PROT:O43526	KCNQ2	I	278	M	I278M	Likely pathogenic	1	1	19	41
MUT:KCNQ2:Ile278Phe	PROT:O43526	KCNQ2	I	278	F	I278F	Pathogenic	1	1	19	41
MUT:KCNQ2:Ile278Thr	PROT:O43526	KCNQ2	I	278	T	I278T	Pathogenic/Likely pathogenic	1	4	19	41
MUT:KCNQ2:Ile540Ser	PROT:O43526	KCNQ2	I	540	S	I540S	Likely pathogenic	1	1	19	11
MUT:KCNQ2:Ile540Val	PROT:O43526	KCNQ2	I	540	V	I540V	Likely pathogenic	1	1	19	11
MUT:KCNQ2:Ile582Val	PROT:O43526	KCNQ2	I	582	V	I582V	Likely pathogenic	1	1	19	20
MUT:KCNQ2:Ile689Leu	PROT:O43526	KCNQ2	I	689	L	I689L	Benign	0	1	19	17
MUT:KCNQ2:Leu101His	PROT:O43526	KCNQ2	L	101	H	L101H	Likely pathogenic	1	1	19	49
MUT:KCNQ2:Leu107Phe	PROT:O43526	KCNQ2	L	107	F	L107F	Pathogenic	1	2	19	55
MUT:KCNQ2:Leu161Pro	PROT:O43526	KCNQ2	L	161	P	L161P	Pathogenic	1	1	19	56
MUT:KCNQ2:Leu197Pro	PROT:O43526	KCNQ2	L	197	P	L197P	Pathogenic	1	2	19	20
MUT:KCNQ2:Leu203Pro	PROT:O43526	KCNQ2	L	203	P	L203P	Pathogenic	1	3	19	14
MUT:KCNQ2:Leu206Arg	PROT:O43526	KCNQ2	L	206	R	L206R	Pathogenic	1	1	19	11
MUT:KCNQ2:Leu206Pro	PROT:O43526	KCNQ2	L	206	P	L206P	Likely pathogenic	1	1	19	11
MUT:KCNQ2:Leu220Met	PROT:O43526	KCNQ2	L	220	M	L220M	Pathogenic	1	1	19	3
MUT:KCNQ2:Leu241Pro	PROT:O43526	KCNQ2	L	241	P	L241P	Pathogenic	1	1	19	4
MUT:KCNQ2:Leu243Phe	PROT:O43526	KCNQ2	L	243	F	L243F	Pathogenic	1	3	19	6
MUT:KCNQ2:Leu243Val	PROT:O43526	KCNQ2	L	243	V	L243V	Pathogenic/Likely pathogenic	1	2	19	6
MUT:KCNQ2:Leu245Arg	PROT:O43526	KCNQ2	L	245	R	L245R	Likely pathogenic	1	1	19	8
MUT:KCNQ2:Leu245Pro	PROT:O43526	KCNQ2	L	245	P	L245P	Pathogenic	1	1	19	8
MUT:KCNQ2:Leu245Val	PROT:O43526	KCNQ2	L	245	V	L245V	Likely pathogenic	1	1	19	8
MUT:KCNQ2:Leu249Pro	PROT:O43526	KCNQ2	L	249	P	L249P	Pathogenic	1	2	19	12
MUT:KCNQ2:Leu268Phe	PROT:O43526	KCNQ2	L	268	F	L268F	Pathogenic/Likely pathogenic	1	3	19	31
MUT:KCNQ2:Leu268Pro	PROT:O43526	KCNQ2	L	268	P	L268P	Pathogenic	1	1	19	31
MUT:KCNQ2:Leu292Phe	PROT:O43526	KCNQ2	L	292	F	L292F	Likely pathogenic	1	1	19	55
MUT:KCNQ2:Leu292Pro	PROT:O43526	KCNQ2	L	292	P	L292P	Pathogenic/Likely pathogenic	1	3	19	55
MUT:KCNQ2:Leu293Pro	PROT:O43526	KCNQ2	L	293	P	L293P	Pathogenic	1	2	19	56
MUT:KCNQ2:Leu307Pro	PROT:O43526	KCNQ2	L	307	P	L307P	Pathogenic/Likely pathogenic	1	2	19	45
MUT:KCNQ2:Leu312Phe	PROT:O43526	KCNQ2	L	312	F	L312F	Likely pathogenic	1	1	19	40
MUT:KCNQ2:Leu339Arg	PROT:O43526	KCNQ2	L	339	R	L339R	Pathogenic	1	2	19	13
MUT:KCNQ2:Leu339Gln	PROT:O43526	KCNQ2	L	339	Q	L339Q	Likely pathogenic	1	1	19	13
MUT:KCNQ2:Leu351Arg	PROT:O43526	KCNQ2	L	351	R	L351R	Likely pathogenic	1	1	19	1
MUT:KCNQ2:Leu351Phe	PROT:O43526	KCNQ2	L	351	F	L351F	Pathogenic	1	2	19	1
MUT:KCNQ2:Leu351Val	PROT:O43526	KCNQ2	L	351	V	L351V	Likely pathogenic	1	2	19	1
MUT:KCNQ2:Leu356Arg	PROT:O43526	KCNQ2	L	356	R	L356R	Likely pathogenic	1	2	19	4
MUT:KCNQ2:Leu356Gln	PROT:O43526	KCNQ2	L	356	Q	L356Q	Pathogenic	1	1	19	4
MUT:KCNQ2:Leu388Pro	PROT:O43526	KCNQ2	L	388	P	L388P	Likely pathogenic	1	1	19	36
MUT:KCNQ2:Leu397Phe	PROT:O43526	KCNQ2	L	397	F	L397F	Likely benign	0	1	19	45
MUT:KCNQ2:Leu579Val	PROT:O43526	KCNQ2	L	579	V	L579V	Likely pathogenic	1	1	19	17
MUT:KCNQ2:Leu81Pro	PROT:O43526	KCNQ2	L	81	P	L81P	Likely pathogenic	1	2	19	29
MUT:KCNQ2:Lys230Arg	PROT:O43526	KCNQ2	K	230	R	K230R	Pathogenic	1	1	19	1
MUT:KCNQ2:Lys230Met	PROT:O43526	KCNQ2	K	230	M	K230M	Likely pathogenic	1	1	19	1
MUT:KCNQ2:Lys283Glu	PROT:O43526	KCNQ2	K	283	E	K283E	Likely pathogenic	1	1	19	46
MUT:KCNQ2:Lys319Glu	PROT:O43526	KCNQ2	K	319	E	K319E	Likely pathogenic	1	1	19	33
MUT:KCNQ2:Lys554Asn	PROT:O43526	KCNQ2	K	554	N	K554N	Pathogenic	1	3	19	3
MUT:KCNQ2:Lys556Arg	PROT:O43526	KCNQ2	K	556	R	K556R	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Lys556Gln	PROT:O43526	KCNQ2	K	556	Q	K556Q	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Lys556Glu	PROT:O43526	KCNQ2	K	556	E	K556E	Pathogenic	1	2	19	2
MUT:KCNQ2:Lys583Asn	PROT:O43526	KCNQ2	K	583	N	K583N	Pathogenic/Likely pathogenic	1	2	19	21
MUT:KCNQ2:Met1Ile	PROT:O43526	KCNQ2	M	1	I	M1I	Pathogenic	1	2	19	48
MUT:KCNQ2:Met1Leu	PROT:O43526	KCNQ2	M	1	L	M1L	Pathogenic	1	1	19	48
MUT:KCNQ2:Met1Lys	PROT:O43526	KCNQ2	M	1	K	M1K	Pathogenic/Likely pathogenic	1	1	19	48
MUT:KCNQ2:Met1Thr	PROT:O43526	KCNQ2	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	19	48
MUT:KCNQ2:Met1Val	PROT:O43526	KCNQ2	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	19	48
MUT:KCNQ2:Met208Val	PROT:O43526	KCNQ2	M	208	V	M208V	Pathogenic	1	2	19	9
MUT:KCNQ2:Met211Thr	PROT:O43526	KCNQ2	M	211	T	M211T	Pathogenic/Likely pathogenic	1	1	19	6
MUT:KCNQ2:Met211Val	PROT:O43526	KCNQ2	M	211	V	M211V	Likely pathogenic	1	1	19	6
MUT:KCNQ2:Met546Ile	PROT:O43526	KCNQ2	M	546	I	M546I	Pathogenic/Likely pathogenic	1	3	19	5
MUT:KCNQ2:Met546Val	PROT:O43526	KCNQ2	M	546	V	M546V	Pathogenic	1	1	19	5
MUT:KCNQ2:Met578Ile	PROT:O43526	KCNQ2	M	578	I	M578I	Pathogenic	1	2	19	16
MUT:KCNQ2:Met578Leu	PROT:O43526	KCNQ2	M	578	L	M578L	Likely pathogenic	1	1	19	16
MUT:KCNQ2:Met578Val	PROT:O43526	KCNQ2	M	578	V	M578V	Pathogenic/Likely pathogenic	1	3	19	16
MUT:KCNQ2:Phe240Val	PROT:O43526	KCNQ2	F	240	V	F240V	Pathogenic/Likely pathogenic	1	2	19	3
MUT:KCNQ2:Phe261Cys	PROT:O43526	KCNQ2	F	261	C	F261C	Likely pathogenic	1	2	19	24
MUT:KCNQ2:Phe304Cys	PROT:O43526	KCNQ2	F	304	C	F304C	Likely pathogenic	1	1	19	48
MUT:KCNQ2:Phe304Ser	PROT:O43526	KCNQ2	F	304	S	F304S	Pathogenic/Likely pathogenic	1	1	19	48
MUT:KCNQ2:Phe305Leu	PROT:O43526	KCNQ2	F	305	L	F305L	Pathogenic/Likely pathogenic	1	2	19	47
MUT:KCNQ2:Phe305Ser	PROT:O43526	KCNQ2	F	305	S	F305S	Likely pathogenic	1	1	19	47
MUT:KCNQ2:Phe548Leu	PROT:O43526	KCNQ2	F	548	L	F548L	Likely pathogenic	1	1	19	3
MUT:KCNQ2:Phe555Leu	PROT:O43526	KCNQ2	F	555	L	F555L	Pathogenic/Likely pathogenic	1	2	19	3
MUT:KCNQ2:Pro285Ser	PROT:O43526	KCNQ2	P	285	S	P285S	Pathogenic/Likely pathogenic	1	2	19	48
MUT:KCNQ2:Pro285Thr	PROT:O43526	KCNQ2	P	285	T	P285T	Pathogenic	1	1	19	48
MUT:KCNQ2:Pro308Leu	PROT:O43526	KCNQ2	P	308	L	P308L	Pathogenic/Likely pathogenic	1	2	19	44
MUT:KCNQ2:Pro308Ser	PROT:O43526	KCNQ2	P	308	S	P308S	Likely pathogenic	1	1	19	44
MUT:KCNQ2:Pro335Ala	PROT:O43526	KCNQ2	P	335	A	P335A	Pathogenic	1	1	19	17
MUT:KCNQ2:Pro335Leu	PROT:O43526	KCNQ2	P	335	L	P335L	Pathogenic/Likely pathogenic	1	4	19	17
MUT:KCNQ2:Pro335Ser	PROT:O43526	KCNQ2	P	335	S	P335S	Likely pathogenic	1	2	19	17
MUT:KCNQ2:Pro561Leu	PROT:O43526	KCNQ2	P	561	L	P561L	Pathogenic	1	2	19	1
MUT:KCNQ2:Pro561Ser	PROT:O43526	KCNQ2	P	561	S	P561S	Pathogenic	1	1	19	1
MUT:KCNQ2:Pro777Arg	PROT:O43526	KCNQ2	P	777	R	P777R	Likely benign	0	1	19	15
MUT:KCNQ2:Ser122Leu	PROT:O43526	KCNQ2	S	122	L	S122L	Pathogenic/Likely pathogenic	1	4	19	70
MUT:KCNQ2:Ser187Phe	PROT:O43526	KCNQ2	S	187	F	S187F	Pathogenic	1	1	19	30
MUT:KCNQ2:Ser195Cys	PROT:O43526	KCNQ2	S	195	C	S195C	Likely pathogenic	1	1	19	22
MUT:KCNQ2:Ser195Phe	PROT:O43526	KCNQ2	S	195	F	S195F	Likely pathogenic	1	1	19	22
MUT:KCNQ2:Ser195Pro	PROT:O43526	KCNQ2	S	195	P	S195P	Pathogenic	1	2	19	22
MUT:KCNQ2:Ser223Phe	PROT:O43526	KCNQ2	S	223	F	S223F	Pathogenic/Likely pathogenic	1	2	19	3
MUT:KCNQ2:Ser223Pro	PROT:O43526	KCNQ2	S	223	P	S223P	Pathogenic	1	1	19	3
MUT:KCNQ2:Ser223Tyr	PROT:O43526	KCNQ2	S	223	Y	S223Y	Likely pathogenic	1	1	19	3
MUT:KCNQ2:Ser229Gly	PROT:O43526	KCNQ2	S	229	G	S229G	Likely pathogenic	1	1	19	0
MUT:KCNQ2:Ser229Ile	PROT:O43526	KCNQ2	S	229	I	S229I	Pathogenic/Likely pathogenic	1	2	19	0
MUT:KCNQ2:Ser247Leu	PROT:O43526	KCNQ2	S	247	L	S247L	Pathogenic/Likely pathogenic	1	3	19	10
MUT:KCNQ2:Ser247Pro	PROT:O43526	KCNQ2	S	247	P	S247P	Likely pathogenic	1	1	19	10
MUT:KCNQ2:Ser247Trp	PROT:O43526	KCNQ2	S	247	W	S247W	Pathogenic	1	3	19	10
MUT:KCNQ2:Ser303Cys	PROT:O43526	KCNQ2	S	303	C	S303C	Pathogenic	1	1	19	49
MUT:KCNQ2:Ser342Leu	PROT:O43526	KCNQ2	S	342	L	S342L	Likely pathogenic	1	1	19	10
MUT:KCNQ2:Ser352Trp	PROT:O43526	KCNQ2	S	352	W	S352W	Likely pathogenic	1	1	19	0
MUT:KCNQ2:Ser539Asn	PROT:O43526	KCNQ2	S	539	N	S539N	Pathogenic	1	1	19	12
MUT:KCNQ2:Ser751Ala	PROT:O43526	KCNQ2	S	751	A	S751A	Likely pathogenic	1	1	19	4
MUT:KCNQ2:Thr114Ala	PROT:O43526	KCNQ2	T	114	A	T114A	Pathogenic	1	2	19	62
MUT:KCNQ2:Thr114Ile	PROT:O43526	KCNQ2	T	114	I	T114I	Likely pathogenic	1	2	19	62
MUT:KCNQ2:Thr194Ile	PROT:O43526	KCNQ2	T	194	I	T194I	Likely pathogenic	1	1	19	23
MUT:KCNQ2:Thr217Ala	PROT:O43526	KCNQ2	T	217	A	T217A	Pathogenic	1	2	19	0
MUT:KCNQ2:Thr217Ile	PROT:O43526	KCNQ2	T	217	I	T217I	Pathogenic/Likely pathogenic	1	2	19	0
MUT:KCNQ2:Thr217Pro	PROT:O43526	KCNQ2	T	217	P	T217P	Likely pathogenic	1	1	19	0
MUT:KCNQ2:Thr234Ala	PROT:O43526	KCNQ2	T	234	A	T234A	Pathogenic	1	1	19	3
MUT:KCNQ2:Thr263Ala	PROT:O43526	KCNQ2	T	263	A	T263A	Likely pathogenic	1	1	19	26
MUT:KCNQ2:Thr263Ile	PROT:O43526	KCNQ2	T	263	I	T263I	Pathogenic	1	2	19	26
MUT:KCNQ2:Thr274Met	PROT:O43526	KCNQ2	T	274	M	T274M	Pathogenic/Likely pathogenic	1	5	19	37
MUT:KCNQ2:Thr274Ser	PROT:O43526	KCNQ2	T	274	S	T274S	Likely pathogenic	1	1	19	37
MUT:KCNQ2:Thr276Asn	PROT:O43526	KCNQ2	T	276	N	T276N	Pathogenic	1	1	19	39
MUT:KCNQ2:Thr276Ile	PROT:O43526	KCNQ2	T	276	I	T276I	Pathogenic	1	2	19	39
MUT:KCNQ2:Thr276Pro	PROT:O43526	KCNQ2	T	276	P	T276P	Likely pathogenic	1	2	19	39
MUT:KCNQ2:Thr277Ala	PROT:O43526	KCNQ2	T	277	A	T277A	Pathogenic	1	1	19	40
MUT:KCNQ2:Thr277Asn	PROT:O43526	KCNQ2	T	277	N	T277N	Likely pathogenic	1	1	19	40
MUT:KCNQ2:Thr277Ile	PROT:O43526	KCNQ2	T	277	I	T277I	Pathogenic	1	2	19	40
MUT:KCNQ2:Thr277Pro	PROT:O43526	KCNQ2	T	277	P	T277P	Pathogenic	1	1	19	40
MUT:KCNQ2:Thr277Ser	PROT:O43526	KCNQ2	T	277	S	T277S	Likely pathogenic	1	3	19	40
MUT:KCNQ2:Thr296Pro	PROT:O43526	KCNQ2	T	296	P	T296P	Likely pathogenic	1	2	19	56
MUT:KCNQ2:Thr349Ile	PROT:O43526	KCNQ2	T	349	I	T349I	Likely pathogenic	1	2	19	3
MUT:KCNQ2:Thr359Lys	PROT:O43526	KCNQ2	T	359	K	T359K	Pathogenic	1	2	19	7
MUT:KCNQ2:Thr716Ile	PROT:O43526	KCNQ2	T	716	I	T716I	Pathogenic	1	1	19	39
MUT:KCNQ2:Trp218Arg	PROT:O43526	KCNQ2	W	218	R	W218R	Pathogenic	1	2	19	1
MUT:KCNQ2:Trp236Arg	PROT:O43526	KCNQ2	W	236	R	W236R	Likely pathogenic	1	1	19	1
MUT:KCNQ2:Trp269Cys	PROT:O43526	KCNQ2	W	269	C	W269C	Pathogenic	1	2	19	32
MUT:KCNQ2:Trp269Ser	PROT:O43526	KCNQ2	W	269	S	W269S	Likely pathogenic	1	1	19	32
MUT:KCNQ2:Trp270Cys	PROT:O43526	KCNQ2	W	270	C	W270C	Likely pathogenic	1	1	19	33
MUT:KCNQ2:Trp344Arg	PROT:O43526	KCNQ2	W	344	R	W344R	Likely pathogenic	1	2	19	8
MUT:KCNQ2:Trp360Cys	PROT:O43526	KCNQ2	W	360	C	W360C	Likely pathogenic	1	1	19	8
MUT:KCNQ2:Tyr127Cys	PROT:O43526	KCNQ2	Y	127	C	Y127C	Pathogenic/Likely pathogenic	1	1	19	75
MUT:KCNQ2:Tyr127Phe	PROT:O43526	KCNQ2	Y	127	F	Y127F	Likely pathogenic	1	1	19	75
MUT:KCNQ2:Tyr154Cys	PROT:O43526	KCNQ2	Y	154	C	Y154C	Likely pathogenic	1	1	19	63
MUT:KCNQ2:Tyr237Cys	PROT:O43526	KCNQ2	Y	237	C	Y237C	Pathogenic	1	1	19	0
MUT:KCNQ2:Tyr280Cys	PROT:O43526	KCNQ2	Y	280	C	Y280C	Likely pathogenic	1	1	19	43
MUT:KCNQ2:Tyr280His	PROT:O43526	KCNQ2	Y	280	H	Y280H	Pathogenic	1	3	19	43
MUT:KCNQ2:Tyr284Asp	PROT:O43526	KCNQ2	Y	284	D	Y284D	Pathogenic	1	2	19	47
MUT:KCNQ2:Tyr284Cys	PROT:O43526	KCNQ2	Y	284	C	Y284C	Pathogenic	1	2	19	47
MUT:KCNQ2:Tyr284His	PROT:O43526	KCNQ2	Y	284	H	Y284H	Pathogenic	1	3	19	47
MUT:KCNQ2:Tyr347Cys	PROT:O43526	KCNQ2	Y	347	C	Y347C	Pathogenic	1	1	19	5
MUT:KCNQ2:Tyr347Ser	PROT:O43526	KCNQ2	Y	347	S	Y347S	Likely pathogenic	1	1	19	5
MUT:KCNQ2:Tyr362Cys	PROT:O43526	KCNQ2	Y	362	C	Y362C	Likely pathogenic	1	1	19	10
MUT:KCNQ2:Tyr562Asn	PROT:O43526	KCNQ2	Y	562	N	Y562N	Pathogenic	1	1	19	0
MUT:KCNQ2:Tyr755Cys	PROT:O43526	KCNQ2	Y	755	C	Y755C	Benign/Likely benign	0	2	19	0
MUT:KCNQ2:Val103Asp	PROT:O43526	KCNQ2	V	103	D	V103D	Pathogenic	1	1	19	51
MUT:KCNQ2:Val132Met	PROT:O43526	KCNQ2	V	132	M	V132M	Pathogenic/Likely pathogenic	1	4	19	80
MUT:KCNQ2:Val136Met	PROT:O43526	KCNQ2	V	136	M	V136M	Likely pathogenic	1	1	19	81
MUT:KCNQ2:Val175Leu	PROT:O43526	KCNQ2	V	175	L	V175L	Pathogenic	1	2	19	42
MUT:KCNQ2:Val182Met	PROT:O43526	KCNQ2	V	182	M	V182M	Likely pathogenic	1	1	19	35
MUT:KCNQ2:Val191Ala	PROT:O43526	KCNQ2	V	191	A	V191A	Pathogenic	1	1	19	26
MUT:KCNQ2:Val224Leu	PROT:O43526	KCNQ2	V	224	L	V224L	Likely pathogenic	1	1	19	2
MUT:KCNQ2:Val225Phe	PROT:O43526	KCNQ2	V	225	F	V225F	Pathogenic	1	1	19	1
MUT:KCNQ2:Val250Ala	PROT:O43526	KCNQ2	V	250	A	V250A	Pathogenic	1	1	19	13
MUT:KCNQ2:Val250Gly	PROT:O43526	KCNQ2	V	250	G	V250G	Pathogenic	1	2	19	13
MUT:KCNQ2:Val250Leu	PROT:O43526	KCNQ2	V	250	L	V250L	Pathogenic	1	1	19	13
MUT:KCNQ2:Val450Met	PROT:O43526	KCNQ2	V	450	M	V450M	Benign/Likely benign	0	2	19	22
MUT:KCNQ2:Val567Asp	PROT:O43526	KCNQ2	V	567	D	V567D	Pathogenic	1	1	19	5
MUT:KCNQ2:Val793Leu	PROT:O43526	KCNQ2	V	793	L	V793L	Likely benign	0	2	19	10
MUT:KCNQ5:Ala182Val	PROT:Q9NR82	KCNQ5	A	182	V	A182V	Likely pathogenic	1	1	11	183
MUT:KCNQ5:Ala351Ser	PROT:Q9NR82	KCNQ5	A	351	S	A351S	Likely pathogenic	1	1	11	14
MUT:KCNQ5:Ala704Thr	PROT:Q9NR82	KCNQ5	A	704	T	A704T	Benign/Likely benign	0	1	11	103
MUT:KCNQ5:Arg431Trp	PROT:Q9NR82	KCNQ5	R	431	W	R431W	Likely pathogenic	1	1	11	18
MUT:KCNQ5:Arg632Gln	PROT:Q9NR82	KCNQ5	R	632	Q	R632Q	Likely benign	0	2	11	132
MUT:KCNQ5:Asn292Ser	PROT:Q9NR82	KCNQ5	N	292	S	N292S	Likely pathogenic	1	1	11	73
MUT:KCNQ5:Asp662Gly	PROT:Q9NR82	KCNQ5	D	662	G	D662G	Likely benign	0	1	11	145
MUT:KCNQ5:Gly347Ala	PROT:Q9NR82	KCNQ5	G	347	A	G347A	Pathogenic	1	1	11	18
MUT:KCNQ5:Gly347Ser	PROT:Q9NR82	KCNQ5	G	347	S	G347S	Pathogenic/Likely pathogenic	1	2	11	18
MUT:KCNQ5:Gly556Ala	PROT:Q9NR82	KCNQ5	G	556	A	G556A	Likely pathogenic	1	1	11	56
MUT:KCNQ5:Gly8Arg	PROT:Q9NR82	KCNQ5	G	8	R	G8R	Benign/Likely benign	0	2	11	357
MUT:KCNQ5:Leu341Ile	PROT:Q9NR82	KCNQ5	L	341	I	L341I	Pathogenic	1	1	11	24
MUT:KCNQ5:Pro369Arg	PROT:Q9NR82	KCNQ5	P	369	R	P369R	Pathogenic	1	1	11	4
MUT:KCNQ5:Pro369Gln	PROT:Q9NR82	KCNQ5	P	369	Q	P369Q	Pathogenic	1	1	11	4
MUT:KCNQ5:Pro369Thr	PROT:Q9NR82	KCNQ5	P	369	T	P369T	Pathogenic/Likely pathogenic	1	1	11	4
MUT:KCNQ5:Ser429Arg	PROT:Q9NR82	KCNQ5	S	429	R	S429R	Likely pathogenic	1	1	11	20
MUT:KCNQ5:Ser429Ile	PROT:Q9NR82	KCNQ5	S	429	I	S429I	Pathogenic	1	1	11	20
MUT:KCNQ5:Thr67Ala	PROT:Q9NR82	KCNQ5	T	67	A	T67A	Likely benign	0	1	11	298
MUT:KCNQ5:Trp17Cys	PROT:Q9NR82	KCNQ5	W	17	C	W17C	Likely benign	0	1	11	348
MUT:KCNQ5:Tyr544Cys	PROT:Q9NR82	KCNQ5	Y	544	C	Y544C	Likely pathogenic	1	1	11	44
MUT:KCNQ5:Val145Gly	PROT:Q9NR82	KCNQ5	V	145	G	V145G	Pathogenic	1	1	11	220
MUT:KCNT2:Arg1117Gln	PROT:Q6UVM3	KCNT2	R	1117	Q	R1117Q	Likely benign	0	1	2	256
MUT:KCNT2:Arg1130Gln	PROT:Q6UVM3	KCNT2	R	1130	Q	R1130Q	Likely benign	0	1	2	269
MUT:KCNT2:Arg190Pro	PROT:Q6UVM3	KCNT2	R	190	P	R190P	Pathogenic	1	1	2	666
MUT:KCNT2:Asn40Lys	PROT:Q6UVM3	KCNT2	N	40	K	N40K	Likely benign	0	1	2	816
MUT:KCNT2:Cys305Ser	PROT:Q6UVM3	KCNT2	C	305	S	C305S	Likely pathogenic	1	1	2	551
MUT:KCNT2:Gly123Cys	PROT:Q6UVM3	KCNT2	G	123	C	G123C	Likely benign	0	1	2	733
MUT:KCNT2:His580Arg	PROT:Q6UVM3	KCNT2	H	580	R	H580R	Likely benign	0	1	2	276
MUT:KCNT2:Ile624Val	PROT:Q6UVM3	KCNT2	I	624	V	I624V	Likely benign	0	1	2	232
MUT:KCNT2:Ile973Met	PROT:Q6UVM3	KCNT2	I	973	M	I973M	Likely benign	0	1	2	112
MUT:KCNT2:Leu267His	PROT:Q6UVM3	KCNT2	L	267	H	L267H	Likely pathogenic	1	1	2	589
MUT:KCNT2:Lys256Arg	PROT:Q6UVM3	KCNT2	K	256	R	K256R	Likely benign	0	1	2	600
MUT:KCNT2:Lys366Glu	PROT:Q6UVM3	KCNT2	K	366	E	K366E	Likely pathogenic	1	1	2	490
MUT:KCNT2:Lys987Arg	PROT:Q6UVM3	KCNT2	K	987	R	K987R	Likely benign	0	1	2	126
MUT:KCNT2:Phe240Leu	PROT:Q6UVM3	KCNT2	F	240	L	F240L	Pathogenic	1	2	2	616
MUT:KCNT2:Ser640Leu	PROT:Q6UVM3	KCNT2	S	640	L	S640L	Likely benign	0	1	2	216
MUT:KCNT2:Thr556Ile	PROT:Q6UVM3	KCNT2	T	556	I	T556I	Likely pathogenic	1	1	2	300
MUT:KCNT2:Val342Ala	PROT:Q6UVM3	KCNT2	V	342	A	V342A	Likely benign	0	1	2	514
MUT:KCNT2:Val521Ile	PROT:Q6UVM3	KCNT2	V	521	I	V521I	Likely benign	0	1	2	335
MUT:KCNT2:Val737Leu	PROT:Q6UVM3	KCNT2	V	737	L	V737L	Benign	0	1	2	119
MUT:KCTD19:Thr72Asn	PROT:Q17RG1	KCTD19	T	72	N	T72N	Likely pathogenic	1	1	6	515
MUT:KCTD3:Ile706Val	PROT:Q9Y597	KCTD3	I	706	V	I706V	Likely benign	0	1	27	5
MUT:KCTD3:Pro10Ala	PROT:Q9Y597	KCTD3	P	10	A	P10A	Likely benign	0	1	27	25
MUT:KCTD3:Ser257Asn	PROT:Q9Y597	KCTD3	S	257	N	S257N	Likely benign	0	1	27	20
MUT:KCTD7:Ala174Thr	PROT:Q96MP8	KCTD7	A	174	T	A174T	Likely pathogenic	1	1	4	11
MUT:KCTD7:Arg153Pro	PROT:Q96MP8	KCTD7	R	153	P	R153P	Likely pathogenic	1	1	4	9
MUT:KCTD7:Arg184Cys	PROT:Q96MP8	KCTD7	R	184	C	R184C	Pathogenic/Likely pathogenic	1	3	4	21
MUT:KCTD7:Arg184His	PROT:Q96MP8	KCTD7	R	184	H	R184H	Likely pathogenic	1	1	4	21
MUT:KCTD7:Arg279Cys	PROT:Q96MP8	KCTD7	R	279	C	R279C	Likely pathogenic	1	1	4	116
MUT:KCTD7:Asn273Ile	PROT:Q96MP8	KCTD7	N	273	I	N273I	Pathogenic	1	1	4	110
MUT:KCTD7:Asp115Tyr	PROT:Q96MP8	KCTD7	D	115	Y	D115Y	Pathogenic	1	1	4	16
MUT:KCTD7:Asp229Tyr	PROT:Q96MP8	KCTD7	D	229	Y	D229Y	Likely pathogenic	1	1	4	66
MUT:KCTD7:Gly114Trp	PROT:Q96MP8	KCTD7	G	114	W	G114W	Likely pathogenic	1	1	4	17
MUT:KCTD7:Leu108Met	PROT:Q96MP8	KCTD7	L	108	M	L108M	Pathogenic	1	1	4	23
MUT:KCTD7:Leu252Val	PROT:Q96MP8	KCTD7	L	252	V	L252V	Likely pathogenic	1	1	4	89
MUT:KCTD7:Leu69Val	PROT:Q96MP8	KCTD7	L	69	V	L69V	Pathogenic	1	1	4	62
MUT:KCTD7:Tyr276Cys	PROT:Q96MP8	KCTD7	Y	276	C	Y276C	Pathogenic/Likely pathogenic	1	2	4	113
MUT:KDELR2:Arg5Trp	PROT:P33947	KDELR2	R	5	W	R5W	Pathogenic	1	1	1	78
MUT:KDELR2:Tyr162Cys	PROT:P33947	KDELR2	Y	162	C	Y162C	Pathogenic	1	1	1	79
MUT:KDF1:Arg101His	PROT:Q8NAX2	KDF1	R	101	H	R101H	Likely benign	0	1	9	36
MUT:KDF1:Arg145Trp	PROT:Q8NAX2	KDF1	R	145	W	R145W	Benign	0	1	9	8
MUT:KDF1:His254Tyr	PROT:Q8NAX2	KDF1	H	254	Y	H254Y	Likely pathogenic	1	1	9	32
MUT:KDF1:Ile243Leu	PROT:Q8NAX2	KDF1	I	243	L	I243L	Likely pathogenic	1	1	9	21
MUT:KDF1:Phe219Leu	PROT:Q8NAX2	KDF1	F	219	L	F219L	Likely benign	0	2	9	1
MUT:KDF1:Phe251Leu	PROT:Q8NAX2	KDF1	F	251	L	F251L	Pathogenic	1	1	9	29
MUT:KDF1:Pro67Leu	PROT:Q8NAX2	KDF1	P	67	L	P67L	Benign	0	1	9	37
MUT:KDM1A:Arg61Ser	PROT:O60341	KDM1A	R	61	S	R61S	Likely benign	0	1	13	19
MUT:KDM1A:Arg750Pro	PROT:O60341	KDM1A	R	750	P	R750P	Likely benign	0	1	13	6
MUT:KDM1A:Asp399Gly	PROT:O60341	KDM1A	D	399	G	D399G	Likely pathogenic	1	1	13	25
MUT:KDM1A:Asp580Gly	PROT:O60341	KDM1A	D	580	G	D580G	Pathogenic	1	1	13	37
MUT:KDM1A:Gln578Arg	PROT:O60341	KDM1A	Q	578	R	Q578R	Likely pathogenic	1	2	13	39
MUT:KDM1A:Glu403Lys	PROT:O60341	KDM1A	E	403	K	E403K	Pathogenic	1	1	13	29
MUT:KDM1A:Leu178Phe	PROT:O60341	KDM1A	L	178	F	L178F	Likely pathogenic	1	1	13	61
MUT:KDM1A:Pro52Ser	PROT:O60341	KDM1A	P	52	S	P52S	Likely benign	0	1	13	28
MUT:KDM1A:Ser274Gly	PROT:O60341	KDM1A	S	274	G	S274G	Likely benign	0	1	13	1
MUT:KDM1A:Tyr785His	PROT:O60341	KDM1A	Y	785	H	Y785H	Pathogenic	1	1	13	41
MUT:KDM2A:Arg319Gln	PROT:Q9Y2K7	KDM2A	R	319	Q	R319Q	Likely pathogenic	1	1	23	71
MUT:KDM2A:Arg568Gln	PROT:Q9Y2K7	KDM2A	R	568	Q	R568Q	Likely pathogenic	1	1	23	6
MUT:KDM2A:Arg568Gly	PROT:Q9Y2K7	KDM2A	R	568	G	R568G	Likely pathogenic	1	1	23	6
MUT:KDM2A:Arg599Pro	PROT:Q9Y2K7	KDM2A	R	599	P	R599P	Likely pathogenic	1	1	23	33
MUT:KDM2A:His284Tyr	PROT:Q9Y2K7	KDM2A	H	284	Y	H284Y	Likely pathogenic	1	2	23	106
MUT:KDM2A:His811Asn	PROT:Q9Y2K7	KDM2A	H	811	N	H811N	Likely pathogenic	1	1	23	12
MUT:KDM2A:Met591Thr	PROT:Q9Y2K7	KDM2A	M	591	T	M591T	Likely pathogenic	1	1	23	29
MUT:KDM2A:Pro235Leu	PROT:Q9Y2K7	KDM2A	P	235	L	P235L	Likely pathogenic	1	1	23	155
MUT:KDM2A:Tyr141Cys	PROT:Q9Y2K7	KDM2A	Y	141	C	Y141C	Likely pathogenic	1	1	23	249
MUT:KDM8:Asn256Ser	PROT:Q8N371	KDM8	N	256	S	N256S	Likely benign	0	1	2	105
MUT:KERA:Asn131Asp	PROT:O60938	KERA	N	131	D	N131D	Likely pathogenic	1	1	1	125
MUT:KERA:Asn176Lys	PROT:O60938	KERA	N	176	K	N176K	Likely pathogenic	1	1	1	80
MUT:KERA:Asn247Ser	PROT:O60938	KERA	N	247	S	N247S	Pathogenic	1	1	1	9
MUT:KERA:Asn81Ser	PROT:O60938	KERA	N	81	S	N81S	Likely pathogenic	1	1	1	175
MUT:KERA:Ile107Arg	PROT:O60938	KERA	I	107	R	I107R	Pathogenic	1	1	1	149
MUT:KERA:Pro70Leu	PROT:O60938	KERA	P	70	L	P70L	Pathogenic	1	1	1	186
MUT:KERA:Thr215Lys	PROT:O60938	KERA	T	215	K	T215K	Pathogenic	1	1	1	41
MUT:KGD4:Arg99Pro	PROT:P82909	KGD4	R	99	P	R99P	Likely pathogenic	1	1	6	9
MUT:KHDC3L:Ala201Gly	PROT:Q587J8	KHDC3L	A	201	G	A201G	Benign	0	1	2	45
MUT:KHDC3L:Ile138Thr	PROT:Q587J8	KHDC3L	I	138	T	I138T	Likely benign	0	1	2	7
MUT:KHDC3L:Lys17Glu	PROT:Q587J8	KHDC3L	K	17	E	K17E	Likely benign	0	1	2	128
MUT:KHDC3L:Met19Thr	PROT:Q587J8	KHDC3L	M	19	T	M19T	Likely benign	0	1	2	126
MUT:KHDC3L:Met1Ile	PROT:Q587J8	KHDC3L	M	1	I	M1I	Pathogenic	1	1	2	144
MUT:KHK:Ala43Thr	PROT:P50053	KHK	A	43	T	A43T	Pathogenic	1	1	2	105
MUT:KHK:Arg176Gln	PROT:P50053	KHK	R	176	Q	R176Q	Likely benign	0	2	2	21
MUT:KHK:Met63Ile	PROT:P50053	KHK	M	63	I	M63I	Likely benign	0	1	2	85
MUT:KHK:Ser273Gly	PROT:P50053	KHK	S	273	G	S273G	Likely benign	0	1	2	76
MUT:KHK:Val49Ile	PROT:P50053	KHK	V	49	I	V49I	Benign	0	1	2	99
MUT:KIAA0232:Ile638Thr	PROT:Q92628	KIAA0232	I	638	T	I638T	Likely benign	0	1	18	74
MUT:KIAA0232:Pro369Leu	PROT:Q92628	KIAA0232	P	369	L	P369L	Likely benign	0	1	18	11
MUT:KIAA0232:Ser16Arg	PROT:Q92628	KIAA0232	S	16	R	S16R	Likely benign	0	1	18	94
MUT:KIAA0232:Thr545Ala	PROT:Q92628	KIAA0232	T	545	A	T545A	Likely benign	0	1	18	148
MUT:KIAA0586:Asp1307Gly	PROT:Q9BVV6	KIAA0586	D	1307	G	D1307G	Benign	0	10	24	156
MUT:KIAA0586:Asp513Val	PROT:Q9BVV6	KIAA0586	D	513	V	D513V	Pathogenic	1	1	24	16
MUT:KIAA0586:Asp902Val	PROT:Q9BVV6	KIAA0586	D	902	V	D902V	Likely benign	0	1	24	75
MUT:KIAA0586:Cys1064Arg	PROT:Q9BVV6	KIAA0586	C	1064	R	C1064R	Likely benign	0	1	24	18
MUT:KIAA0586:Glu325Val	PROT:Q9BVV6	KIAA0586	E	325	V	E325V	Benign/Likely benign	0	5	24	4
MUT:KIAA0586:Glu366Val	PROT:Q9BVV6	KIAA0586	E	366	V	E366V	Benign/Likely benign	0	4	24	34
MUT:KIAA0586:Glu5Asp	PROT:Q9BVV6	KIAA0586	E	5	D	E5D	Likely benign	0	1	24	120
MUT:KIAA0586:Gly1035Asp	PROT:Q9BVV6	KIAA0586	G	1035	D	G1035D	Benign	0	1	24	11
MUT:KIAA0586:Leu843Pro	PROT:Q9BVV6	KIAA0586	L	843	P	L843P	Benign	0	2	24	16
MUT:KIAA0586:Lys1095Gln	PROT:Q9BVV6	KIAA0586	K	1095	Q	K1095Q	Benign/Likely benign	0	2	24	34
MUT:KIAA0586:Met1518Thr	PROT:Q9BVV6	KIAA0586	M	1518	T	M1518T	Likely benign	0	1	24	367
MUT:KIAA0586:Met432Val	PROT:Q9BVV6	KIAA0586	M	432	V	M432V	Likely benign	0	1	24	16
MUT:KIAA0586:Met86Thr	PROT:Q9BVV6	KIAA0586	M	86	T	M86T	Benign/Likely benign	0	1	24	39
MUT:KIAA0586:Phe250Leu	PROT:Q9BVV6	KIAA0586	F	250	L	F250L	Likely benign	0	1	24	54
MUT:KIAA0586:Pro1056Ala	PROT:Q9BVV6	KIAA0586	P	1056	A	P1056A	Benign	0	2	24	10
MUT:KIAA0586:Pro912Leu	PROT:Q9BVV6	KIAA0586	P	912	L	P912L	Benign/Likely benign	0	1	24	85
MUT:KIAA0586:Ser65Leu	PROT:Q9BVV6	KIAA0586	S	65	L	S65L	Likely benign	0	1	24	60
MUT:KIAA0586:Ser68Thr	PROT:Q9BVV6	KIAA0586	S	68	T	S68T	Benign/Likely benign	0	5	24	57
MUT:KIAA0586:Ser803Ala	PROT:Q9BVV6	KIAA0586	S	803	A	S803A	Likely pathogenic	1	1	24	15
MUT:KIAA0586:Ser971Asn	PROT:Q9BVV6	KIAA0586	S	971	N	S971N	Likely benign	0	1	24	75
MUT:KIAA0586:Thr973Ala	PROT:Q9BVV6	KIAA0586	T	973	A	T973A	Likely benign	0	1	24	73
MUT:KIAA0586:Tyr296Cys	PROT:Q9BVV6	KIAA0586	Y	296	C	Y296C	Likely pathogenic	1	1	24	8
MUT:KIAA0586:Val1517Met	PROT:Q9BVV6	KIAA0586	V	1517	M	V1517M	Likely benign	0	1	24	366
MUT:KIAA0586:Val34Phe	PROT:Q9BVV6	KIAA0586	V	34	F	V34F	Benign/Likely benign	0	2	24	91
MUT:KIAA1549:Ala1720Val	PROT:Q9HCM3	KIAA1549	A	1720	V	A1720V	Likely benign	0	1	21	18
MUT:KIAA1549:Ala220Pro	PROT:Q9HCM3	KIAA1549	A	220	P	A220P	Benign	0	1	21	814
MUT:KIAA1549:Ala226Ser	PROT:Q9HCM3	KIAA1549	A	226	S	A226S	Likely benign	0	2	21	808
MUT:KIAA1549:Ala842Val	PROT:Q9HCM3	KIAA1549	A	842	V	A842V	Benign/Likely benign	0	1	21	192
MUT:KIAA1549:Ala904Thr	PROT:Q9HCM3	KIAA1549	A	904	T	A904T	Benign	0	2	21	130
MUT:KIAA1549:Arg1729Lys	PROT:Q9HCM3	KIAA1549	R	1729	K	R1729K	Benign	0	1	21	9
MUT:KIAA1549:Arg31Gly	PROT:Q9HCM3	KIAA1549	R	31	G	R31G	Likely benign	0	1	21	1003
MUT:KIAA1549:Asp154Glu	PROT:Q9HCM3	KIAA1549	D	154	E	D154E	Benign/Likely benign	0	2	21	880
MUT:KIAA1549:Asp320Asn	PROT:Q9HCM3	KIAA1549	D	320	N	D320N	Benign/Likely benign	0	1	21	714
MUT:KIAA1549:Asp934Asn	PROT:Q9HCM3	KIAA1549	D	934	N	D934N	Benign	0	1	21	100
MUT:KIAA1549:Asp953Asn	PROT:Q9HCM3	KIAA1549	D	953	N	D953N	Likely benign	0	1	21	81
MUT:KIAA1549:Gln1733Arg	PROT:Q9HCM3	KIAA1549	Q	1733	R	Q1733R	Likely benign	0	1	21	5
MUT:KIAA1549:Gly1888Ser	PROT:Q9HCM3	KIAA1549	G	1888	S	G1888S	Benign	0	1	21	1
MUT:KIAA1549:Gly889Val	PROT:Q9HCM3	KIAA1549	G	889	V	G889V	Benign	0	1	21	145
MUT:KIAA1549:Ile1018Leu	PROT:Q9HCM3	KIAA1549	I	1018	L	I1018L	Benign/Likely benign	0	1	21	16
MUT:KIAA1549:Lys1559Arg	PROT:Q9HCM3	KIAA1549	K	1559	R	K1559R	Likely benign	0	1	21	4
MUT:KIAA1549:Met1209Val	PROT:Q9HCM3	KIAA1549	M	1209	V	M1209V	Likely benign	0	1	21	140
MUT:KIAA1549:Pro106Ser	PROT:Q9HCM3	KIAA1549	P	106	S	P106S	Likely benign	0	1	21	928
MUT:KIAA1549:Pro311Ser	PROT:Q9HCM3	KIAA1549	P	311	S	P311S	Likely benign	0	1	21	723
MUT:KIAA1549:Pro486Ala	PROT:Q9HCM3	KIAA1549	P	486	A	P486A	Benign	0	1	21	548
MUT:KIAA1549:Pro652Leu	PROT:Q9HCM3	KIAA1549	P	652	L	P652L	Benign	0	2	21	382
MUT:KIAA1549:Pro772Ser	PROT:Q9HCM3	KIAA1549	P	772	S	P772S	Benign	0	1	21	262
MUT:KIAA1549:Ser1442Ala	PROT:Q9HCM3	KIAA1549	S	1442	A	S1442A	Likely benign	0	1	21	9
MUT:KIAA1549:Ser259Gly	PROT:Q9HCM3	KIAA1549	S	259	G	S259G	Likely benign	0	1	21	775
MUT:KIAA1549:Ser601Leu	PROT:Q9HCM3	KIAA1549	S	601	L	S601L	Benign	0	1	21	433
MUT:KIAA1549:Ser642Leu	PROT:Q9HCM3	KIAA1549	S	642	L	S642L	Likely benign	0	1	21	392
MUT:KIAA1549:Ser647Cys	PROT:Q9HCM3	KIAA1549	S	647	C	S647C	Benign	0	1	21	387
MUT:KIAA1549:Ser849Leu	PROT:Q9HCM3	KIAA1549	S	849	L	S849L	Benign	0	2	21	185
MUT:KIAA1549:Thr1743Met	PROT:Q9HCM3	KIAA1549	T	1743	M	T1743M	Likely benign	0	1	21	5
MUT:KIAA1549:Thr209Ser	PROT:Q9HCM3	KIAA1549	T	209	S	T209S	Likely benign	0	1	21	825
MUT:KIAA1549:Thr364Ala	PROT:Q9HCM3	KIAA1549	T	364	A	T364A	Benign	0	2	21	670
MUT:KIAA1549:Thr886Pro	PROT:Q9HCM3	KIAA1549	T	886	P	T886P	Likely benign	0	1	21	148
MUT:KIAA1549:Val1550Ile	PROT:Q9HCM3	KIAA1549	V	1550	I	V1550I	Benign	0	1	21	5
MUT:KIAA1549:Val865Phe	PROT:Q9HCM3	KIAA1549	V	865	F	V865F	Likely benign	0	1	21	169
MUT:KICS2:Asp296Glu	PROT:Q96MD2	KICS2	D	296	E	D296E	Pathogenic	1	1	3	11
MUT:KICS2:Tyr393Cys	PROT:Q96MD2	KICS2	Y	393	C	Y393C	Pathogenic	1	1	3	86
MUT:KIF11:Asn527Ile	PROT:P52732	KIF11	N	527	I	N527I	Likely pathogenic	1	1	48	6
MUT:KIF11:Asn543Ser	PROT:P52732	KIF11	N	543	S	N543S	Likely benign	0	1	48	3
MUT:KIF11:Asn569Ser	PROT:P52732	KIF11	N	569	S	N569S	Likely benign	0	6	48	19
MUT:KIF11:Asn651Ser	PROT:P52732	KIF11	N	651	S	N651S	Benign/Likely benign	0	2	48	4
MUT:KIF11:Asn838His	PROT:P52732	KIF11	N	838	H	N838H	Benign/Likely benign	0	1	48	28
MUT:KIF11:His141Leu	PROT:P52732	KIF11	H	141	L	H141L	Likely pathogenic	1	1	48	5
MUT:KIF11:His526Gln	PROT:P52732	KIF11	H	526	Q	H526Q	Benign/Likely benign	0	1	48	5
MUT:KIF11:His718Leu	PROT:P52732	KIF11	H	718	L	H718L	Benign	0	1	48	27
MUT:KIF11:Ile1006Val	PROT:P52732	KIF11	I	1006	V	I1006V	Benign	0	1	48	39
MUT:KIF11:Ile299Val	PROT:P52732	KIF11	I	299	V	I299V	Likely pathogenic	1	1	48	59
MUT:KIF11:Leu1042Phe	PROT:P52732	KIF11	L	1042	F	L1042F	Benign/Likely benign	0	1	48	3
MUT:KIF11:Leu682Val	PROT:P52732	KIF11	L	682	V	L682V	Benign/Likely benign	0	2	48	15
MUT:KIF11:Leu896Pro	PROT:P52732	KIF11	L	896	P	L896P	Likely pathogenic	1	1	48	6
MUT:KIF11:Met1Val	PROT:P52732	KIF11	M	1	V	M1V	Pathogenic	1	1	48	33
MUT:KIF11:Met545Thr	PROT:P52732	KIF11	M	545	T	M545T	Likely pathogenic	1	1	48	5
MUT:KIF11:Phe772Leu	PROT:P52732	KIF11	F	772	L	F772L	Likely benign	0	1	48	1
MUT:KIF11:Ser776Phe	PROT:P52732	KIF11	S	776	F	S776F	Likely benign	0	1	48	5
MUT:KIF11:Thr437Ala	PROT:P52732	KIF11	T	437	A	T437A	Likely benign	0	2	48	7
MUT:KIF11:Thr972Ala	PROT:P52732	KIF11	T	972	A	T972A	Benign/Likely benign	0	2	48	20
MUT:KIF11:Val627Leu	PROT:P52732	KIF11	V	627	L	V627L	Benign/Likely benign	0	2	48	9
MUT:KIF12:Arg368Gln	PROT:Q96FN5	KIF12	R	368	Q	R368Q	Likely pathogenic	1	1	3	132
MUT:KIF12:Arg396His	PROT:Q96FN5	KIF12	R	396	H	R396H	Likely benign	0	1	3	109
MUT:KIF12:Arg448Gln	PROT:Q96FN5	KIF12	R	448	Q	R448Q	Likely benign	0	1	3	57
MUT:KIF12:Arg515Gln	PROT:Q96FN5	KIF12	R	515	Q	R515Q	Likely benign	0	1	3	10
MUT:KIF12:His651Arg	PROT:Q96FN5	KIF12	H	651	R	H651R	Likely benign	0	1	3	146
MUT:KIF12:Lys373Arg	PROT:Q96FN5	KIF12	K	373	R	K373R	Likely benign	0	1	3	132
MUT:KIF12:Thr215Met	PROT:Q96FN5	KIF12	T	215	M	T215M	Likely benign	0	1	3	21
MUT:KIF12:Thr582Met	PROT:Q96FN5	KIF12	T	582	M	T582M	Likely benign	0	1	3	77
MUT:KIF12:Val342Met	PROT:Q96FN5	KIF12	V	342	M	V342M	Likely pathogenic	1	1	3	106
MUT:KIF14:Arg1197Gly	PROT:Q15058	KIF14	R	1197	G	R1197G	Likely benign	0	1	55	3
MUT:KIF14:Arg1499His	PROT:Q15058	KIF14	R	1499	H	R1499H	Likely benign	0	1	55	5
MUT:KIF14:Arg740Gln	PROT:Q15058	KIF14	R	740	Q	R740Q	Likely benign	0	1	55	45
MUT:KIF14:Asn1073Ser	PROT:Q15058	KIF14	N	1073	S	N1073S	Likely benign	0	1	55	29
MUT:KIF14:Asn553Ser	PROT:Q15058	KIF14	N	553	S	N553S	Likely benign	0	3	55	68
MUT:KIF14:Asp51Asn	PROT:Q15058	KIF14	D	51	N	D51N	Benign/Likely benign	0	1	55	5
MUT:KIF14:Gln643Glu	PROT:Q15058	KIF14	Q	643	E	Q643E	Likely benign	0	1	55	22
MUT:KIF14:Gly1162Asp	PROT:Q15058	KIF14	G	1162	D	G1162D	Likely benign	0	1	55	16
MUT:KIF14:Gly1221Val	PROT:Q15058	KIF14	G	1221	V	G1221V	Likely pathogenic	1	2	55	1
MUT:KIF14:Gly1402Ser	PROT:Q15058	KIF14	G	1402	S	G1402S	Likely benign	0	1	55	47
MUT:KIF14:His849Asp	PROT:Q15058	KIF14	H	849	D	H849D	Pathogenic	1	1	55	64
MUT:KIF14:His875Arg	PROT:Q15058	KIF14	H	875	R	H875R	Likely benign	0	1	55	53
MUT:KIF14:Ile602Val	PROT:Q15058	KIF14	I	602	V	I602V	Likely benign	0	1	55	19
MUT:KIF14:Leu505Pro	PROT:Q15058	KIF14	L	505	P	L505P	Likely pathogenic	1	1	55	116
MUT:KIF14:Met458Val	PROT:Q15058	KIF14	M	458	V	M458V	Benign	0	1	55	109
MUT:KIF14:Phe321Leu	PROT:Q15058	KIF14	F	321	L	F321L	Likely benign	0	1	55	1
MUT:KIF14:Pro1633Ala	PROT:Q15058	KIF14	P	1633	A	P1633A	Benign	0	2	55	128
MUT:KIF14:Thr282Ile	PROT:Q15058	KIF14	T	282	I	T282I	Likely benign	0	1	55	5
MUT:KIF14:Val363Ile	PROT:Q15058	KIF14	V	363	I	V363I	Likely benign	0	1	55	14
MUT:KIF1B:Arg1082Gln	PROT:O60333	KIF1B	R	1082	Q	R1082Q	Likely benign	0	1	15	71
MUT:KIF1B:Arg1642Lys	PROT:O60333	KIF1B	R	1642	K	R1642K	Likely benign	0	1	15	13
MUT:KIF1B:Arg1656Gln	PROT:O60333	KIF1B	R	1656	Q	R1656Q	Benign/Likely benign	0	2	15	27
MUT:KIF1B:Arg623Cys	PROT:O60333	KIF1B	R	623	C	R623C	Likely benign	0	2	15	42
MUT:KIF1B:Asn1109Lys	PROT:O60333	KIF1B	N	1109	K	N1109K	Likely benign	0	1	15	98
MUT:KIF1B:Asn777Ser	PROT:O60333	KIF1B	N	777	S	N777S	Benign	0	3	15	112
MUT:KIF1B:Gln98Leu	PROT:O60333	KIF1B	Q	98	L	Q98L	Pathogenic	1	1	15	383
MUT:KIF1B:Glu1674Lys	PROT:O60333	KIF1B	E	1674	K	E1674K	Benign/Likely benign	0	3	15	45
MUT:KIF1B:His430Tyr	PROT:O60333	KIF1B	H	430	Y	H430Y	Likely benign	0	1	15	51
MUT:KIF1B:Lys888Arg	PROT:O60333	KIF1B	K	888	R	K888R	Likely benign	0	1	15	123
MUT:KIF1B:Phe1256Ser	PROT:O60333	KIF1B	F	1256	S	F1256S	Benign	0	1	15	114
MUT:KIF1B:Phe661Leu	PROT:O60333	KIF1B	F	661	L	F661L	Benign	0	1	15	4
MUT:KIF1B:Pro1212Leu	PROT:O60333	KIF1B	P	1212	L	P1212L	Benign/Likely benign	0	3	15	158
MUT:KIF1B:Pro1619Ala	PROT:O60333	KIF1B	P	1619	A	P1619A	Likely benign	0	2	15	7
MUT:KIF1B:Pro1811Leu	PROT:O60333	KIF1B	P	1811	L	P1811L	Benign/Likely benign	0	3	15	182
MUT:KIF1B:Pro428Arg	PROT:O60333	KIF1B	P	428	R	P428R	Likely benign	0	1	15	53
MUT:KIF1B:Pro428Leu	PROT:O60333	KIF1B	P	428	L	P428L	Likely benign	0	1	15	53
MUT:KIF1B:Ser21Asn	PROT:O60333	KIF1B	S	21	N	S21N	Benign/Likely benign	0	1	15	460
MUT:KIF1B:Ser865Arg	PROT:O60333	KIF1B	S	865	R	S865R	Likely benign	0	3	15	146
MUT:KIF1B:Trp749Arg	PROT:O60333	KIF1B	W	749	R	W749R	Benign/Likely benign	0	3	15	84
MUT:KIF1B:Tyr1133Cys	PROT:O60333	KIF1B	Y	1133	C	Y1133C	Benign	0	5	15	122
MUT:KIF1B:Tyr419Cys	PROT:O60333	KIF1B	Y	419	C	Y419C	Likely benign	0	1	15	62
MUT:KIF1B:Val1600Met	PROT:O60333	KIF1B	V	1600	M	V1600M	Benign	0	3	15	10
MUT:KIF1C:Ala1017Thr	PROT:O43896	KIF1C	A	1017	T	A1017T	Benign/Likely benign	0	2	26	5
MUT:KIF1C:Ala17Thr	PROT:O43896	KIF1C	A	17	T	A17T	Benign	0	1	26	145
MUT:KIF1C:Arg1024Gln	PROT:O43896	KIF1C	R	1024	Q	R1024Q	Likely benign	0	3	26	2
MUT:KIF1C:Arg1041Gln	PROT:O43896	KIF1C	R	1041	Q	R1041Q	Likely benign	0	1	26	8
MUT:KIF1C:Arg169Trp	PROT:O43896	KIF1C	R	169	W	R169W	Likely pathogenic	1	1	26	7
MUT:KIF1C:Arg216Cys	PROT:O43896	KIF1C	R	216	C	R216C	Likely pathogenic	1	1	26	27
MUT:KIF1C:Arg216His	PROT:O43896	KIF1C	R	216	H	R216H	Likely pathogenic	1	1	26	27
MUT:KIF1C:Arg547Leu	PROT:O43896	KIF1C	R	547	L	R547L	Likely benign	0	1	26	124
MUT:KIF1C:Arg607Trp	PROT:O43896	KIF1C	R	607	W	R607W	Likely benign	0	1	26	64
MUT:KIF1C:Asn351Asp	PROT:O43896	KIF1C	N	351	D	N351D	Likely benign	0	1	26	34
MUT:KIF1C:Cys26Arg	PROT:O43896	KIF1C	C	26	R	C26R	Likely benign	0	1	26	136
MUT:KIF1C:Gly813Ser	PROT:O43896	KIF1C	G	813	S	G813S	Likely benign	0	1	26	4
MUT:KIF1C:Gly824Arg	PROT:O43896	KIF1C	G	824	R	G824R	Likely benign	0	1	26	7
MUT:KIF1C:Ile149Phe	PROT:O43896	KIF1C	I	149	F	I149F	Pathogenic	1	1	26	13
MUT:KIF1C:Ile244Met	PROT:O43896	KIF1C	I	244	M	I244M	Likely benign	0	1	26	1
MUT:KIF1C:Pro14Leu	PROT:O43896	KIF1C	P	14	L	P14L	Likely pathogenic	1	1	26	148
MUT:KIF1C:Pro176Leu	PROT:O43896	KIF1C	P	176	L	P176L	Pathogenic/Likely pathogenic	1	1	26	14
MUT:KIF1C:Pro416Leu	PROT:O43896	KIF1C	P	416	L	P416L	Likely benign	0	1	26	31
MUT:KIF1C:Pro425Leu	PROT:O43896	KIF1C	P	425	L	P425L	Likely benign	0	1	26	40
MUT:KIF1C:Pro909Gln	PROT:O43896	KIF1C	P	909	Q	P909Q	Benign	0	2	26	6
MUT:KIF1C:Ser996Asn	PROT:O43896	KIF1C	S	996	N	S996N	Benign	0	3	26	26
MUT:KIF1C:Thr702Ile	PROT:O43896	KIF1C	T	702	I	T702I	Benign/Likely benign	0	2	26	0
MUT:KIF1C:Tyr300Phe	PROT:O43896	KIF1C	Y	300	F	Y300F	Likely benign	0	1	26	5
MUT:KIF1C:Val522Ile	PROT:O43896	KIF1C	V	522	I	V522I	Likely benign	0	1	26	137
MUT:KIF20A:Gln656Arg	PROT:O95235	KIF20A	Q	656	R	Q656R	Likely benign	0	1	43	6
MUT:KIF22:Arg149Gln	PROT:Q14807	KIF22	R	149	Q	R149Q	Pathogenic	1	1	29	9
MUT:KIF22:Arg149Leu	PROT:Q14807	KIF22	R	149	L	R149L	Pathogenic/Likely pathogenic	1	1	29	9
MUT:KIF22:Arg442His	PROT:Q14807	KIF22	R	442	H	R442H	Likely benign	0	1	29	3
MUT:KIF22:Arg49Gln	PROT:Q14807	KIF22	R	49	Q	R49Q	Pathogenic	1	1	29	17
MUT:KIF22:Asp447Asn	PROT:Q14807	KIF22	D	447	N	D447N	Benign/Likely benign	0	1	29	2
MUT:KIF22:Asp594Asn	PROT:Q14807	KIF22	D	594	N	D594N	Benign/Likely benign	0	1	29	3
MUT:KIF22:Glu467Lys	PROT:Q14807	KIF22	E	467	K	E467K	Likely pathogenic	1	1	29	2
MUT:KIF22:Leu251Pro	PROT:Q14807	KIF22	L	251	P	L251P	Likely pathogenic	1	1	29	18
MUT:KIF22:Pro148Leu	PROT:Q14807	KIF22	P	148	L	P148L	Pathogenic/Likely pathogenic	1	1	29	8
MUT:KIF22:Pro148Ser	PROT:Q14807	KIF22	P	148	S	P148S	Likely pathogenic	1	1	29	8
MUT:KIF22:Ser229Gly	PROT:Q14807	KIF22	S	229	G	S229G	Likely benign	0	1	29	40
MUT:KIF24:Asn522Ser	PROT:Q5T7B8	KIF24	N	522	S	N522S	Pathogenic	1	1	34	39
MUT:KIF3B:Glu250Gln	PROT:O15066	KIF3B	E	250	Q	E250Q	Pathogenic	1	1	13	69
MUT:KIF3B:Ile221Thr	PROT:O15066	KIF3B	I	221	T	I221T	Likely benign	0	1	13	40
MUT:KIF3B:Leu523Pro	PROT:O15066	KIF3B	L	523	P	L523P	Pathogenic	1	1	13	108
MUT:KIF3B:Val435Ile	PROT:O15066	KIF3B	V	435	I	V435I	Likely benign	0	1	13	84
MUT:KIF4B:Arg1029His	PROT:Q2VIQ3	KIF4B	R	1029	H	R1029H	Benign	0	1	36	9
MUT:KIF4B:Arg680His	PROT:Q2VIQ3	KIF4B	R	680	H	R680H	Benign	0	1	36	4
MUT:KIF4B:Glu494Gln	PROT:Q2VIQ3	KIF4B	E	494	Q	E494Q	Benign	0	1	36	87
MUT:KIF4B:Ile220Val	PROT:Q2VIQ3	KIF4B	I	220	V	I220V	Benign	0	1	36	14
MUT:KIF4B:Ile465Leu	PROT:Q2VIQ3	KIF4B	I	465	L	I465L	Benign	0	1	36	58
MUT:KIF4B:Ile816Leu	PROT:Q2VIQ3	KIF4B	I	816	L	I816L	Benign	0	1	36	17
MUT:KIF4B:Leu959Pro	PROT:Q2VIQ3	KIF4B	L	959	P	L959P	Benign	0	1	36	2
MUT:KIF4B:Lys851Glu	PROT:Q2VIQ3	KIF4B	K	851	E	K851E	Likely benign	0	1	36	11
MUT:KIF4B:Met522Ile	PROT:Q2VIQ3	KIF4B	M	522	I	M522I	Benign	0	1	36	115
MUT:KIF4B:Thr512Ala	PROT:Q2VIQ3	KIF4B	T	512	A	T512A	Likely benign	0	1	36	105
MUT:KIF4B:Thr757Ile	PROT:Q2VIQ3	KIF4B	T	757	I	T757I	Benign	0	1	36	42
MUT:KIF4B:Val200Met	PROT:Q2VIQ3	KIF4B	V	200	M	V200M	Benign	0	1	36	28
MUT:KIF4B:Val755Ile	PROT:Q2VIQ3	KIF4B	V	755	I	V755I	Benign	0	1	36	40
MUT:KIFAP3:Phe434Cys	PROT:Q92845	KIFAP3	F	434	C	F434C	Benign	0	1	11	43
MUT:KIFAP3:Ser513Ala	PROT:Q92845	KIFAP3	S	513	A	S513A	Benign	0	1	11	28
MUT:KIFBP:Glu23Gly	PROT:Q96EK5	KIFBP	E	23	G	E23G	Benign/Likely benign	0	3	8	3
MUT:KIFBP:Gly66Ser	PROT:Q96EK5	KIFBP	G	66	S	G66S	Benign	0	1	8	36
MUT:KIFBP:Gly68Arg	PROT:Q96EK5	KIFBP	G	68	R	G68R	Benign/Likely benign	0	1	8	38
MUT:KIFBP:Met173Thr	PROT:Q96EK5	KIFBP	M	173	T	M173T	Benign/Likely benign	0	2	8	5
MUT:KIRREL2:Arg205Gln	PROT:Q6UWL6	KIRREL2	R	205	Q	R205Q	Benign	0	2	3	342
MUT:KISS1:Asn113Lys	PROT:Q15726	KISS1	N	113	K	N113K	Pathogenic	1	1	1	1
MUT:KISS1:Asn115Lys	PROT:Q15726	KISS1	N	115	K	N115K	Likely pathogenic	1	1	1	3
MUT:KISS1:His90Asp	PROT:Q15726	KISS1	H	90	D	H90D	Benign/Likely benign	0	1	1	22
MUT:KISS1:Pro81Arg	PROT:Q15726	KISS1	P	81	R	P81R	Benign	0	1	1	31
MUT:KL:Ala107Val	PROT:Q9UEF7	KL	A	107	V	A107V	Benign	0	3	1	376
MUT:KL:Ala203Ser	PROT:Q9UEF7	KL	A	203	S	A203S	Benign/Likely benign	0	1	1	280
MUT:KL:Arg199Cys	PROT:Q9UEF7	KL	R	199	C	R199C	Benign/Likely benign	0	1	1	284
MUT:KL:Arg47Gln	PROT:Q9UEF7	KL	R	47	Q	R47Q	Benign	0	1	1	436
MUT:KL:Asn131Lys	PROT:Q9UEF7	KL	N	131	K	N131K	Benign/Likely benign	0	1	1	352
MUT:KL:Cys370Ser	PROT:Q9UEF7	KL	C	370	S	C370S	Benign	0	2	1	113
MUT:KL:Gly766Ser	PROT:Q9UEF7	KL	G	766	S	G766S	Benign/Likely benign	0	2	1	283
MUT:KL:His269Gln	PROT:Q9UEF7	KL	H	269	Q	H269Q	Likely benign	0	1	1	214
MUT:KL:Leu109Arg	PROT:Q9UEF7	KL	L	109	R	L109R	Benign	0	2	1	374
MUT:KL:Phe352Val	PROT:Q9UEF7	KL	F	352	V	F352V	Benign	0	1	1	131
MUT:KL:Pro514Ser	PROT:Q9UEF7	KL	P	514	S	P514S	Benign	0	1	1	31
MUT:KL:Tyr1003Cys	PROT:Q9UEF7	KL	Y	1003	C	Y1003C	Benign	0	4	1	520
MUT:KLF3:His234Arg	PROT:P57682	KLF3	H	234	R	H234R	Likely benign	0	1	17	10
MUT:KLF4:Asn41Ser	PROT:O43474	KLF4	N	41	S	N41S	Likely benign	0	1	2	9
MUT:KLF4:His287Tyr	PROT:O43474	KLF4	H	287	Y	H287Y	Likely benign	0	1	2	53
MUT:KLF8:Ile108Val	PROT:O95600	KLF8	I	108	V	I108V	Benign	0	1	3	191
MUT:KLHL10:Arg329Cys	PROT:Q6JEL2	KLHL10	R	329	C	R329C	Pathogenic	1	1	1	172
MUT:KLHL10:Gln216Pro	PROT:Q6JEL2	KLHL10	Q	216	P	Q216P	Benign/Likely benign	0	1	1	285
MUT:KLHL20:Asp507Glu	PROT:Q9Y2M5	KLHL20	D	507	E	D507E	Likely benign	0	1	4	34
MUT:KLHL20:Gln421Arg	PROT:Q9Y2M5	KLHL20	Q	421	R	Q421R	Pathogenic	1	1	4	113
MUT:KLHL20:Gly357Arg	PROT:Q9Y2M5	KLHL20	G	357	R	G357R	Pathogenic/Likely pathogenic	1	5	4	49
MUT:KLHL20:Gly546Arg	PROT:Q9Y2M5	KLHL20	G	546	R	G546R	Pathogenic	1	1	4	5
MUT:KLHL20:Gly593Trp	PROT:Q9Y2M5	KLHL20	G	593	W	G593W	Pathogenic	1	1	4	52
MUT:KLHL20:Pro210Arg	PROT:Q9Y2M5	KLHL20	P	210	R	P210R	Likely pathogenic	1	1	4	55
MUT:KLHL20:Ser405Asn	PROT:Q9Y2M5	KLHL20	S	405	N	S405N	Pathogenic	1	1	4	97
MUT:KLHL24:Arg306His	PROT:Q6TFL4	KLHL24	R	306	H	R306H	Pathogenic	1	1	9	3
MUT:KLHL24:Leu221Phe	PROT:Q6TFL4	KLHL24	L	221	F	L221F	Likely pathogenic	1	1	9	35
MUT:KLHL24:Met1Ile	PROT:Q6TFL4	KLHL24	M	1	I	M1I	Pathogenic	1	2	9	18
MUT:KLHL24:Met1Thr	PROT:Q6TFL4	KLHL24	M	1	T	M1T	Pathogenic	1	2	9	18
MUT:KLHL24:Met1Val	PROT:Q6TFL4	KLHL24	M	1	V	M1V	Pathogenic	1	3	9	18
MUT:KLHL24:Tyr505Cys	PROT:Q6TFL4	KLHL24	Y	505	C	Y505C	Likely pathogenic	1	1	9	34
MUT:KLHL3:Ala398Val	PROT:Q9UH77	KLHL3	A	398	V	A398V	Pathogenic	1	1	8	22
MUT:KLHL3:Ala494Thr	PROT:Q9UH77	KLHL3	A	494	T	A494T	Pathogenic	1	1	8	61
MUT:KLHL3:Ala77Glu	PROT:Q9UH77	KLHL3	A	77	E	A77E	Pathogenic	1	1	8	67
MUT:KLHL3:Arg336Ile	PROT:Q9UH77	KLHL3	R	336	I	R336I	Pathogenic/Likely pathogenic	1	2	8	24
MUT:KLHL3:Arg431Trp	PROT:Q9UH77	KLHL3	R	431	W	R431W	Likely pathogenic	1	1	8	2
MUT:KLHL3:Arg527Gln	PROT:Q9UH77	KLHL3	R	527	Q	R527Q	Likely pathogenic	1	1	8	49
MUT:KLHL3:Arg528Cys	PROT:Q9UH77	KLHL3	R	528	C	R528C	Likely pathogenic	1	2	8	48
MUT:KLHL3:Arg528His	PROT:Q9UH77	KLHL3	R	528	H	R528H	Pathogenic	1	2	8	48
MUT:KLHL3:Asn529Lys	PROT:Q9UH77	KLHL3	N	529	K	N529K	Pathogenic	1	1	8	47
MUT:KLHL3:Cys164Phe	PROT:Q9UH77	KLHL3	C	164	F	C164F	Pathogenic	1	1	8	131
MUT:KLHL3:Gln309Arg	PROT:Q9UH77	KLHL3	Q	309	R	Q309R	Pathogenic	1	1	8	3
MUT:KLHL3:Glu85Ala	PROT:Q9UH77	KLHL3	E	85	A	E85A	Pathogenic	1	1	8	75
MUT:KLHL3:Met427Thr	PROT:Q9UH77	KLHL3	M	427	T	M427T	Likely pathogenic	1	2	8	6
MUT:KLHL3:Met78Val	PROT:Q9UH77	KLHL3	M	78	V	M78V	Pathogenic	1	1	8	68
MUT:KLHL3:Phe322Cys	PROT:Q9UH77	KLHL3	F	322	C	F322C	Pathogenic	1	2	8	10
MUT:KLHL3:Pro334Ser	PROT:Q9UH77	KLHL3	P	334	S	P334S	Likely pathogenic	1	1	8	22
MUT:KLHL3:Pro426Leu	PROT:Q9UH77	KLHL3	P	426	L	P426L	Pathogenic	1	1	8	7
MUT:KLHL3:Pro501Thr	PROT:Q9UH77	KLHL3	P	501	T	P501T	Pathogenic	1	1	8	68
MUT:KLHL3:Ser410Leu	PROT:Q9UH77	KLHL3	S	410	L	S410L	Pathogenic	1	2	8	23
MUT:KLHL3:Ser432Asn	PROT:Q9UH77	KLHL3	S	432	N	S432N	Pathogenic/Likely pathogenic	1	2	8	1
MUT:KLHL3:Ser433Asn	PROT:Q9UH77	KLHL3	S	433	N	S433N	Pathogenic/Likely pathogenic	1	3	8	0
MUT:KLHL40:Ala290Asp	PROT:Q2TBA0	KLHL40	A	290	D	A290D	Likely benign	0	1	1	211
MUT:KLHL40:Ala499Thr	PROT:Q2TBA0	KLHL40	A	499	T	A499T	Likely benign	0	1	1	2
MUT:KLHL40:Ala538Pro	PROT:Q2TBA0	KLHL40	A	538	P	A538P	Pathogenic	1	1	1	37
MUT:KLHL40:Ala601Thr	PROT:Q2TBA0	KLHL40	A	601	T	A601T	Benign	0	1	1	100
MUT:KLHL40:Arg500Cys	PROT:Q2TBA0	KLHL40	R	500	C	R500C	Pathogenic/Likely pathogenic	1	1	1	1
MUT:KLHL40:Arg59Pro	PROT:Q2TBA0	KLHL40	R	59	P	R59P	Likely pathogenic	1	1	1	442
MUT:KLHL40:Asn345Ser	PROT:Q2TBA0	KLHL40	N	345	S	N345S	Benign	0	1	1	156
MUT:KLHL40:Cys617Arg	PROT:Q2TBA0	KLHL40	C	617	R	C617R	Benign	0	1	1	116
MUT:KLHL40:Glu528Lys	PROT:Q2TBA0	KLHL40	E	528	K	E528K	Pathogenic/Likely pathogenic	1	1	1	27
MUT:KLHL40:Glu93Gln	PROT:Q2TBA0	KLHL40	E	93	Q	E93Q	Benign/Likely benign	0	2	1	408
MUT:KLHL40:Gly469Cys	PROT:Q2TBA0	KLHL40	G	469	C	G469C	Pathogenic	1	1	1	32
MUT:KLHL40:Leu580Ile	PROT:Q2TBA0	KLHL40	L	580	I	L580I	Benign	0	1	1	79
MUT:KLHL40:Lys291Thr	PROT:Q2TBA0	KLHL40	K	291	T	K291T	Benign	0	1	1	210
MUT:KLHL40:Thr506Pro	PROT:Q2TBA0	KLHL40	T	506	P	T506P	Pathogenic	1	1	1	5
MUT:KLHL40:Trp201Leu	PROT:Q2TBA0	KLHL40	W	201	L	W201L	Pathogenic	1	1	1	300
MUT:KLHL40:Val417Asp	PROT:Q2TBA0	KLHL40	V	417	D	V417D	Likely pathogenic	1	1	1	84
MUT:KLHL40:Val514Met	PROT:Q2TBA0	KLHL40	V	514	M	V514M	Benign/Likely benign	0	1	1	13
MUT:KLK3:Arg125Cys	PROT:P07288	KLK3	R	125	C	R125C	Benign	0	1	1	42
MUT:KLK3:Leu132Ile	PROT:P07288	KLK3	L	132	I	L132I	Benign	0	1	1	35
MUT:KLK3:Ser210Trp	PROT:P07288	KLK3	S	210	W	S210W	Likely benign	0	1	1	43
MUT:KLLN:Arg128Gly	PROT:B2CW77	KLLN	R	128	G	R128G	Benign/Likely benign	0	1	1	15
MUT:KLLN:Gly39Arg	PROT:B2CW77	KLLN	G	39	R	G39R	Likely benign	0	1	1	74
MUT:KMT2D:Ala1105Thr	PROT:O14686	KMT2D	A	1105	T	A1105T	Likely benign	0	1	114	40
MUT:KMT2D:Ala1130Thr	PROT:O14686	KMT2D	A	1130	T	A1130T	Benign	0	1	114	65
MUT:KMT2D:Ala1130Val	PROT:O14686	KMT2D	A	1130	V	A1130V	Likely benign	0	1	114	65
MUT:KMT2D:Ala1145Val	PROT:O14686	KMT2D	A	1145	V	A1145V	Likely benign	0	1	114	50
MUT:KMT2D:Ala1161Thr	PROT:O14686	KMT2D	A	1161	T	A1161T	Benign	0	1	114	34
MUT:KMT2D:Ala1176Val	PROT:O14686	KMT2D	A	1176	V	A1176V	Likely benign	0	1	114	19
MUT:KMT2D:Ala1216Val	PROT:O14686	KMT2D	A	1216	V	A1216V	Benign	0	1	114	18
MUT:KMT2D:Ala1296Val	PROT:O14686	KMT2D	A	1296	V	A1296V	Likely benign	0	1	114	2
MUT:KMT2D:Ala1482Ser	PROT:O14686	KMT2D	A	1482	S	A1482S	Likely benign	0	1	114	147
MUT:KMT2D:Ala1502Gly	PROT:O14686	KMT2D	A	1502	G	A1502G	Likely benign	0	1	114	167
MUT:KMT2D:Ala1547Val	PROT:O14686	KMT2D	A	1547	V	A1547V	Benign	0	1	114	124
MUT:KMT2D:Ala16Ser	PROT:O14686	KMT2D	A	16	S	A16S	Benign	0	1	114	11
MUT:KMT2D:Ala1715Thr	PROT:O14686	KMT2D	A	1715	T	A1715T	Benign	0	1	114	7
MUT:KMT2D:Ala1791Val	PROT:O14686	KMT2D	A	1791	V	A1791V	Benign	0	1	114	29
MUT:KMT2D:Ala180Ser	PROT:O14686	KMT2D	A	180	S	A180S	Likely benign	0	1	114	78
MUT:KMT2D:Ala198Thr	PROT:O14686	KMT2D	A	198	T	A198T	Likely benign	0	1	114	96
MUT:KMT2D:Ala198Val	PROT:O14686	KMT2D	A	198	V	A198V	Likely benign	0	1	114	96
MUT:KMT2D:Ala2094Ser	PROT:O14686	KMT2D	A	2094	S	A2094S	Likely benign	0	1	114	61
MUT:KMT2D:Ala2094Thr	PROT:O14686	KMT2D	A	2094	T	A2094T	Likely benign	0	1	114	61
MUT:KMT2D:Ala2101Val	PROT:O14686	KMT2D	A	2101	V	A2101V	Likely pathogenic	1	1	114	54
MUT:KMT2D:Ala2119Thr	PROT:O14686	KMT2D	A	2119	T	A2119T	Likely benign	0	1	114	36
MUT:KMT2D:Ala2139Val	PROT:O14686	KMT2D	A	2139	V	A2139V	Likely benign	0	2	114	16
MUT:KMT2D:Ala2205Asp	PROT:O14686	KMT2D	A	2205	D	A2205D	Benign	0	1	114	23
MUT:KMT2D:Ala2207Val	PROT:O14686	KMT2D	A	2207	V	A2207V	Benign/Likely benign	0	2	114	21
MUT:KMT2D:Ala221Pro	PROT:O14686	KMT2D	A	221	P	A221P	Likely benign	0	1	114	119
MUT:KMT2D:Ala22Val	PROT:O14686	KMT2D	A	22	V	A22V	Benign	0	1	114	5
MUT:KMT2D:Ala2329Thr	PROT:O14686	KMT2D	A	2329	T	A2329T	Likely benign	0	1	114	3
MUT:KMT2D:Ala2379Val	PROT:O14686	KMT2D	A	2379	V	A2379V	Likely benign	0	2	114	37
MUT:KMT2D:Ala2464Thr	PROT:O14686	KMT2D	A	2464	T	A2464T	Benign/Likely benign	0	1	114	48
MUT:KMT2D:Ala2478Val	PROT:O14686	KMT2D	A	2478	V	A2478V	Benign	0	1	114	34
MUT:KMT2D:Ala2491Pro	PROT:O14686	KMT2D	A	2491	P	A2491P	Benign	0	1	114	21
MUT:KMT2D:Ala2497Val	PROT:O14686	KMT2D	A	2497	V	A2497V	Benign	0	1	114	15
MUT:KMT2D:Ala2500Val	PROT:O14686	KMT2D	A	2500	V	A2500V	Benign/Likely benign	0	2	114	12
MUT:KMT2D:Ala2526Thr	PROT:O14686	KMT2D	A	2526	T	A2526T	Likely benign	0	1	114	14
MUT:KMT2D:Ala2620Thr	PROT:O14686	KMT2D	A	2620	T	A2620T	Likely benign	0	1	114	106
MUT:KMT2D:Ala2632Asp	PROT:O14686	KMT2D	A	2632	D	A2632D	Likely benign	0	1	114	94
MUT:KMT2D:Ala2657Val	PROT:O14686	KMT2D	A	2657	V	A2657V	Benign/Likely benign	0	2	114	69
MUT:KMT2D:Ala2713Gly	PROT:O14686	KMT2D	A	2713	G	A2713G	Likely benign	0	1	114	13
MUT:KMT2D:Ala2722Thr	PROT:O14686	KMT2D	A	2722	T	A2722T	Likely benign	0	1	114	4
MUT:KMT2D:Ala2980Val	PROT:O14686	KMT2D	A	2980	V	A2980V	Benign	0	1	114	11
MUT:KMT2D:Ala2983Ser	PROT:O14686	KMT2D	A	2983	S	A2983S	Likely benign	0	1	114	14
MUT:KMT2D:Ala3010Val	PROT:O14686	KMT2D	A	3010	V	A3010V	Benign	0	1	114	41
MUT:KMT2D:Ala3183Pro	PROT:O14686	KMT2D	A	3183	P	A3183P	Benign/Likely benign	0	2	114	4
MUT:KMT2D:Ala3219Thr	PROT:O14686	KMT2D	A	3219	T	A3219T	Benign/Likely benign	0	1	114	10
MUT:KMT2D:Ala328Val	PROT:O14686	KMT2D	A	328	V	A328V	Likely benign	0	1	114	38
MUT:KMT2D:Ala3318Gly	PROT:O14686	KMT2D	A	3318	G	A3318G	Likely benign	0	1	114	89
MUT:KMT2D:Ala3320Thr	PROT:O14686	KMT2D	A	3320	T	A3320T	Benign	0	1	114	91
MUT:KMT2D:Ala3348Val	PROT:O14686	KMT2D	A	3348	V	A3348V	Benign	0	1	114	85
MUT:KMT2D:Ala3365Gly	PROT:O14686	KMT2D	A	3365	G	A3365G	Benign	0	1	114	68
MUT:KMT2D:Ala3397Thr	PROT:O14686	KMT2D	A	3397	T	A3397T	Likely benign	0	1	114	36
MUT:KMT2D:Ala3403Val	PROT:O14686	KMT2D	A	3403	V	A3403V	Benign	0	1	114	30
MUT:KMT2D:Ala3417Thr	PROT:O14686	KMT2D	A	3417	T	A3417T	Benign/Likely benign	0	1	114	16
MUT:KMT2D:Ala3425Thr	PROT:O14686	KMT2D	A	3425	T	A3425T	Benign	0	1	114	8
MUT:KMT2D:Ala3475Thr	PROT:O14686	KMT2D	A	3475	T	A3475T	Likely benign	0	4	114	12
MUT:KMT2D:Ala3484Val	PROT:O14686	KMT2D	A	3484	V	A3484V	Benign/Likely benign	0	1	114	21
MUT:KMT2D:Ala3541Pro	PROT:O14686	KMT2D	A	3541	P	A3541P	Pathogenic/Likely pathogenic	1	1	114	78
MUT:KMT2D:Ala3817Asp	PROT:O14686	KMT2D	A	3817	D	A3817D	Benign	0	1	114	20
MUT:KMT2D:Ala3891Ser	PROT:O14686	KMT2D	A	3891	S	A3891S	Likely benign	0	1	114	54
MUT:KMT2D:Ala4003Val	PROT:O14686	KMT2D	A	4003	V	A4003V	Benign	0	1	114	1
MUT:KMT2D:Ala4059Thr	PROT:O14686	KMT2D	A	4059	T	A4059T	Likely benign	0	1	114	48
MUT:KMT2D:Ala4199Thr	PROT:O14686	KMT2D	A	4199	T	A4199T	Likely benign	0	1	114	16
MUT:KMT2D:Ala4199Val	PROT:O14686	KMT2D	A	4199	V	A4199V	Benign	0	1	114	16
MUT:KMT2D:Ala4334Val	PROT:O14686	KMT2D	A	4334	V	A4334V	Benign/Likely benign	0	2	114	25
MUT:KMT2D:Ala4452Gly	PROT:O14686	KMT2D	A	4452	G	A4452G	Benign	0	1	114	13
MUT:KMT2D:Ala4485Gly	PROT:O14686	KMT2D	A	4485	G	A4485G	Benign/Likely benign	0	1	114	15
MUT:KMT2D:Ala4496Ser	PROT:O14686	KMT2D	A	4496	S	A4496S	Benign	0	1	114	5
MUT:KMT2D:Ala4496Val	PROT:O14686	KMT2D	A	4496	V	A4496V	Likely benign	0	1	114	5
MUT:KMT2D:Ala4512Gly	PROT:O14686	KMT2D	A	4512	G	A4512G	Benign	0	1	114	11
MUT:KMT2D:Ala4568Pro	PROT:O14686	KMT2D	A	4568	P	A4568P	Likely benign	0	1	114	15
MUT:KMT2D:Ala4571Thr	PROT:O14686	KMT2D	A	4571	T	A4571T	Benign	0	1	114	18
MUT:KMT2D:Ala4594Pro	PROT:O14686	KMT2D	A	4594	P	A4594P	Likely benign	0	2	114	41
MUT:KMT2D:Ala4599Thr	PROT:O14686	KMT2D	A	4599	T	A4599T	Likely benign	0	2	114	44
MUT:KMT2D:Ala4599Val	PROT:O14686	KMT2D	A	4599	V	A4599V	Likely benign	0	2	114	44
MUT:KMT2D:Ala4658Val	PROT:O14686	KMT2D	A	4658	V	A4658V	Benign	0	1	114	3
MUT:KMT2D:Ala4708Thr	PROT:O14686	KMT2D	A	4708	T	A4708T	Benign	0	1	114	19
MUT:KMT2D:Ala4736Ser	PROT:O14686	KMT2D	A	4736	S	A4736S	Likely benign	0	1	114	9
MUT:KMT2D:Ala476Thr	PROT:O14686	KMT2D	A	476	T	A476T	Benign	0	1	114	1
MUT:KMT2D:Ala4835Val	PROT:O14686	KMT2D	A	4835	V	A4835V	Benign	0	1	114	13
MUT:KMT2D:Ala4862Val	PROT:O14686	KMT2D	A	4862	V	A4862V	Likely benign	0	1	114	10
MUT:KMT2D:Ala4942Pro	PROT:O14686	KMT2D	A	4942	P	A4942P	Benign	0	1	114	13
MUT:KMT2D:Ala5166Thr	PROT:O14686	KMT2D	A	5166	T	A5166T	Likely benign	0	1	114	110
MUT:KMT2D:Ala5212Thr	PROT:O14686	KMT2D	A	5212	T	A5212T	Benign	0	1	114	64
MUT:KMT2D:Ala5258Thr	PROT:O14686	KMT2D	A	5258	T	A5258T	Benign	0	1	114	18
MUT:KMT2D:Ala5413Pro	PROT:O14686	KMT2D	A	5413	P	A5413P	Likely pathogenic	1	1	114	64
MUT:KMT2D:Ala5413Val	PROT:O14686	KMT2D	A	5413	V	A5413V	Likely pathogenic	1	1	114	64
MUT:KMT2D:Ala569Glu	PROT:O14686	KMT2D	A	569	E	A569E	Likely benign	0	1	114	40
MUT:KMT2D:Ala67Val	PROT:O14686	KMT2D	A	67	V	A67V	Likely benign	0	1	114	13
MUT:KMT2D:Ala792Thr	PROT:O14686	KMT2D	A	792	T	A792T	Benign	0	1	114	48
MUT:KMT2D:Ala7Val	PROT:O14686	KMT2D	A	7	V	A7V	Likely benign	0	1	114	20
MUT:KMT2D:Ala946Val	PROT:O14686	KMT2D	A	946	V	A946V	Benign/Likely benign	0	1	114	119
MUT:KMT2D:Ala947Ser	PROT:O14686	KMT2D	A	947	S	A947S	Likely benign	0	1	114	118
MUT:KMT2D:Ala950Val	PROT:O14686	KMT2D	A	950	V	A950V	Benign	0	2	114	115
MUT:KMT2D:Arg1189Cys	PROT:O14686	KMT2D	R	1189	C	R1189C	Likely benign	0	2	114	6
MUT:KMT2D:Arg1189His	PROT:O14686	KMT2D	R	1189	H	R1189H	Benign	0	1	114	6
MUT:KMT2D:Arg1290Gln	PROT:O14686	KMT2D	R	1290	Q	R1290Q	Benign	0	1	114	3
MUT:KMT2D:Arg1290Trp	PROT:O14686	KMT2D	R	1290	W	R1290W	Benign	0	1	114	3
MUT:KMT2D:Arg1291Gln	PROT:O14686	KMT2D	R	1291	Q	R1291Q	Benign/Likely benign	0	1	114	2
MUT:KMT2D:Arg1292Cys	PROT:O14686	KMT2D	R	1292	C	R1292C	Benign	0	1	114	1
MUT:KMT2D:Arg1304His	PROT:O14686	KMT2D	R	1304	H	R1304H	Likely benign	0	1	114	3
MUT:KMT2D:Arg1312Cys	PROT:O14686	KMT2D	R	1312	C	R1312C	Likely benign	0	1	114	5
MUT:KMT2D:Arg1312His	PROT:O14686	KMT2D	R	1312	H	R1312H	Benign	0	1	114	5
MUT:KMT2D:Arg1315Pro	PROT:O14686	KMT2D	R	1315	P	R1315P	Likely benign	0	1	114	8
MUT:KMT2D:Arg1322Cys	PROT:O14686	KMT2D	R	1322	C	R1322C	Likely benign	0	1	114	9
MUT:KMT2D:Arg1388Trp	PROT:O14686	KMT2D	R	1388	W	R1388W	Likely benign	0	1	114	53
MUT:KMT2D:Arg1423Cys	PROT:O14686	KMT2D	R	1423	C	R1423C	Likely pathogenic	1	1	114	88
MUT:KMT2D:Arg1423Ser	PROT:O14686	KMT2D	R	1423	S	R1423S	Likely pathogenic	1	1	114	88
MUT:KMT2D:Arg1524His	PROT:O14686	KMT2D	R	1524	H	R1524H	Benign/Likely benign	0	1	114	147
MUT:KMT2D:Arg1524Leu	PROT:O14686	KMT2D	R	1524	L	R1524L	Likely benign	0	1	114	147
MUT:KMT2D:Arg1586Cys	PROT:O14686	KMT2D	R	1586	C	R1586C	Likely benign	0	1	114	85
MUT:KMT2D:Arg1586His	PROT:O14686	KMT2D	R	1586	H	R1586H	Likely benign	0	1	114	85
MUT:KMT2D:Arg1612His	PROT:O14686	KMT2D	R	1612	H	R1612H	Likely benign	0	1	114	59
MUT:KMT2D:Arg1617Gln	PROT:O14686	KMT2D	R	1617	Q	R1617Q	Likely benign	0	1	114	54
MUT:KMT2D:Arg1709Gly	PROT:O14686	KMT2D	R	1709	G	R1709G	Likely benign	0	1	114	13
MUT:KMT2D:Arg1786His	PROT:O14686	KMT2D	R	1786	H	R1786H	Likely benign	0	1	114	24
MUT:KMT2D:Arg1796Trp	PROT:O14686	KMT2D	R	1796	W	R1796W	Benign/Likely benign	0	2	114	34
MUT:KMT2D:Arg1814Gly	PROT:O14686	KMT2D	R	1814	G	R1814G	Benign	0	2	114	20
MUT:KMT2D:Arg185His	PROT:O14686	KMT2D	R	185	H	R185H	Benign	0	2	114	83
MUT:KMT2D:Arg1903Gln	PROT:O14686	KMT2D	R	1903	Q	R1903Q	Benign	0	2	114	7
MUT:KMT2D:Arg1918His	PROT:O14686	KMT2D	R	1918	H	R1918H	Benign	0	1	114	7
MUT:KMT2D:Arg191Gln	PROT:O14686	KMT2D	R	191	Q	R191Q	Likely benign	0	1	114	89
MUT:KMT2D:Arg1958His	PROT:O14686	KMT2D	R	1958	H	R1958H	Benign	0	1	114	8
MUT:KMT2D:Arg2001Gln	PROT:O14686	KMT2D	R	2001	Q	R2001Q	Likely pathogenic	1	1	114	51
MUT:KMT2D:Arg2072Cys	PROT:O14686	KMT2D	R	2072	C	R2072C	Likely benign	0	1	114	83
MUT:KMT2D:Arg2105Cys	PROT:O14686	KMT2D	R	2105	C	R2105C	Likely benign	0	1	114	50
MUT:KMT2D:Arg2188His	PROT:O14686	KMT2D	R	2188	H	R2188H	Benign	0	1	114	33
MUT:KMT2D:Arg2188Leu	PROT:O14686	KMT2D	R	2188	L	R2188L	Benign	0	1	114	33
MUT:KMT2D:Arg2217His	PROT:O14686	KMT2D	R	2217	H	R2217H	Benign	0	1	114	11
MUT:KMT2D:Arg2235Lys	PROT:O14686	KMT2D	R	2235	K	R2235K	Benign	0	2	114	2
MUT:KMT2D:Arg2248Cys	PROT:O14686	KMT2D	R	2248	C	R2248C	Likely benign	0	1	114	2
MUT:KMT2D:Arg228Cys	PROT:O14686	KMT2D	R	228	C	R228C	Benign	0	1	114	126
MUT:KMT2D:Arg228Gly	PROT:O14686	KMT2D	R	228	G	R228G	Benign/Likely benign	0	1	114	126
MUT:KMT2D:Arg2386Gln	PROT:O14686	KMT2D	R	2386	Q	R2386Q	Likely benign	0	1	114	44
MUT:KMT2D:Arg2401His	PROT:O14686	KMT2D	R	2401	H	R2401H	Likely benign	0	1	114	59
MUT:KMT2D:Arg2428Gln	PROT:O14686	KMT2D	R	2428	Q	R2428Q	Benign	0	1	114	84
MUT:KMT2D:Arg2428Trp	PROT:O14686	KMT2D	R	2428	W	R2428W	Benign	0	1	114	84
MUT:KMT2D:Arg2443His	PROT:O14686	KMT2D	R	2443	H	R2443H	Benign	0	1	114	69
MUT:KMT2D:Arg2452Cys	PROT:O14686	KMT2D	R	2452	C	R2452C	Likely benign	0	1	114	60
MUT:KMT2D:Arg2452His	PROT:O14686	KMT2D	R	2452	H	R2452H	Benign	0	1	114	60
MUT:KMT2D:Arg2456His	PROT:O14686	KMT2D	R	2456	H	R2456H	Benign/Likely benign	0	1	114	56
MUT:KMT2D:Arg2460Cys	PROT:O14686	KMT2D	R	2460	C	R2460C	Benign	0	2	114	52
MUT:KMT2D:Arg2460His	PROT:O14686	KMT2D	R	2460	H	R2460H	Benign/Likely benign	0	1	114	52
MUT:KMT2D:Arg2520Gln	PROT:O14686	KMT2D	R	2520	Q	R2520Q	Likely benign	0	1	114	8
MUT:KMT2D:Arg2520Trp	PROT:O14686	KMT2D	R	2520	W	R2520W	Benign/Likely benign	0	1	114	8
MUT:KMT2D:Arg2611His	PROT:O14686	KMT2D	R	2611	H	R2611H	Benign	0	1	114	99
MUT:KMT2D:Arg2635Gln	PROT:O14686	KMT2D	R	2635	Q	R2635Q	Likely benign	0	1	114	91
MUT:KMT2D:Arg2635Pro	PROT:O14686	KMT2D	R	2635	P	R2635P	Likely benign	0	1	114	91
MUT:KMT2D:Arg263His	PROT:O14686	KMT2D	R	263	H	R263H	Benign	0	1	114	103
MUT:KMT2D:Arg2681Trp	PROT:O14686	KMT2D	R	2681	W	R2681W	Benign	0	1	114	45
MUT:KMT2D:Arg2692Gln	PROT:O14686	KMT2D	R	2692	Q	R2692Q	Likely benign	0	1	114	34
MUT:KMT2D:Arg2692Trp	PROT:O14686	KMT2D	R	2692	W	R2692W	Likely benign	0	1	114	34
MUT:KMT2D:Arg2774Gln	PROT:O14686	KMT2D	R	2774	Q	R2774Q	Benign	0	1	114	32
MUT:KMT2D:Arg2774Pro	PROT:O14686	KMT2D	R	2774	P	R2774P	Benign	0	1	114	32
MUT:KMT2D:Arg2774Trp	PROT:O14686	KMT2D	R	2774	W	R2774W	Benign	0	1	114	32
MUT:KMT2D:Arg2801Gln	PROT:O14686	KMT2D	R	2801	Q	R2801Q	Benign	0	1	114	59
MUT:KMT2D:Arg280Lys	PROT:O14686	KMT2D	R	280	K	R280K	Likely pathogenic	1	2	114	86
MUT:KMT2D:Arg2847Cys	PROT:O14686	KMT2D	R	2847	C	R2847C	Benign	0	1	114	102
MUT:KMT2D:Arg2881Gln	PROT:O14686	KMT2D	R	2881	Q	R2881Q	Benign	0	1	114	68
MUT:KMT2D:Arg2881Trp	PROT:O14686	KMT2D	R	2881	W	R2881W	Benign	0	1	114	68
MUT:KMT2D:Arg2922Trp	PROT:O14686	KMT2D	R	2922	W	R2922W	Benign/Likely benign	0	2	114	27
MUT:KMT2D:Arg2966Trp	PROT:O14686	KMT2D	R	2966	W	R2966W	Benign	0	1	114	3
MUT:KMT2D:Arg2975Leu	PROT:O14686	KMT2D	R	2975	L	R2975L	Likely benign	0	1	114	6
MUT:KMT2D:Arg3082Trp	PROT:O14686	KMT2D	R	3082	W	R3082W	Likely benign	0	1	114	3
MUT:KMT2D:Arg3087Trp	PROT:O14686	KMT2D	R	3087	W	R3087W	Likely benign	0	1	114	8
MUT:KMT2D:Arg3099Cys	PROT:O14686	KMT2D	R	3099	C	R3099C	Benign	0	1	114	20
MUT:KMT2D:Arg3099His	PROT:O14686	KMT2D	R	3099	H	R3099H	Benign/Likely benign	0	2	114	20
MUT:KMT2D:Arg3110Cys	PROT:O14686	KMT2D	R	3110	C	R3110C	Benign/Likely benign	0	1	114	9
MUT:KMT2D:Arg3127Cys	PROT:O14686	KMT2D	R	3127	C	R3127C	Likely benign	0	3	114	3
MUT:KMT2D:Arg3127His	PROT:O14686	KMT2D	R	3127	H	R3127H	Benign	0	1	114	3
MUT:KMT2D:Arg3164Gln	PROT:O14686	KMT2D	R	3164	Q	R3164Q	Likely benign	0	1	114	15
MUT:KMT2D:Arg3167Gln	PROT:O14686	KMT2D	R	3167	Q	R3167Q	Likely benign	0	1	114	12
MUT:KMT2D:Arg3167Leu	PROT:O14686	KMT2D	R	3167	L	R3167L	Benign	0	1	114	12
MUT:KMT2D:Arg321Gln	PROT:O14686	KMT2D	R	321	Q	R321Q	Likely benign	0	1	114	45
MUT:KMT2D:Arg3321Gln	PROT:O14686	KMT2D	R	3321	Q	R3321Q	Benign	0	1	114	92
MUT:KMT2D:Arg3342Cys	PROT:O14686	KMT2D	R	3342	C	R3342C	Likely benign	0	2	114	91
MUT:KMT2D:Arg3342His	PROT:O14686	KMT2D	R	3342	H	R3342H	Benign	0	1	114	91
MUT:KMT2D:Arg348Cys	PROT:O14686	KMT2D	R	348	C	R348C	Likely benign	0	1	114	18
MUT:KMT2D:Arg348His	PROT:O14686	KMT2D	R	348	H	R348H	Benign	0	1	114	18
MUT:KMT2D:Arg3491Gly	PROT:O14686	KMT2D	R	3491	G	R3491G	Benign/Likely benign	0	1	114	28
MUT:KMT2D:Arg3491His	PROT:O14686	KMT2D	R	3491	H	R3491H	Benign/Likely benign	0	2	114	28
MUT:KMT2D:Arg3508Leu	PROT:O14686	KMT2D	R	3508	L	R3508L	Benign	0	1	114	45
MUT:KMT2D:Arg3536His	PROT:O14686	KMT2D	R	3536	H	R3536H	Likely benign	0	1	114	73
MUT:KMT2D:Arg3539Gly	PROT:O14686	KMT2D	R	3539	G	R3539G	Likely pathogenic	1	1	114	76
MUT:KMT2D:Arg3539Trp	PROT:O14686	KMT2D	R	3539	W	R3539W	Likely pathogenic	1	1	114	76
MUT:KMT2D:Arg3582Trp	PROT:O14686	KMT2D	R	3582	W	R3582W	Pathogenic/Likely pathogenic	1	3	114	38
MUT:KMT2D:Arg359His	PROT:O14686	KMT2D	R	359	H	R359H	Benign	0	1	114	7
MUT:KMT2D:Arg3626Trp	PROT:O14686	KMT2D	R	3626	W	R3626W	Benign	0	1	114	2
MUT:KMT2D:Arg3656His	PROT:O14686	KMT2D	R	3656	H	R3656H	Benign	0	1	114	32
MUT:KMT2D:Arg3707Gln	PROT:O14686	KMT2D	R	3707	Q	R3707Q	Benign/Likely benign	0	2	114	83
MUT:KMT2D:Arg3714Lys	PROT:O14686	KMT2D	R	3714	K	R3714K	Benign/Likely benign	0	2	114	90
MUT:KMT2D:Arg3833Gln	PROT:O14686	KMT2D	R	3833	Q	R3833Q	Benign/Likely benign	0	2	114	4
MUT:KMT2D:Arg3851Lys	PROT:O14686	KMT2D	R	3851	K	R3851K	Benign	0	1	114	14
MUT:KMT2D:Arg3982Gln	PROT:O14686	KMT2D	R	3982	Q	R3982Q	Benign/Likely benign	0	1	114	22
MUT:KMT2D:Arg4162Gln	PROT:O14686	KMT2D	R	4162	Q	R4162Q	Benign/Likely benign	0	3	114	53
MUT:KMT2D:Arg4162Trp	PROT:O14686	KMT2D	R	4162	W	R4162W	Benign	0	1	114	53
MUT:KMT2D:Arg4198Gln	PROT:O14686	KMT2D	R	4198	Q	R4198Q	Benign	0	2	114	17
MUT:KMT2D:Arg4212Gln	PROT:O14686	KMT2D	R	4212	Q	R4212Q	Benign	0	1	114	3
MUT:KMT2D:Arg4229Gln	PROT:O14686	KMT2D	R	4229	Q	R4229Q	Benign/Likely benign	0	2	114	14
MUT:KMT2D:Arg4229Trp	PROT:O14686	KMT2D	R	4229	W	R4229W	Benign	0	1	114	14
MUT:KMT2D:Arg4238His	PROT:O14686	KMT2D	R	4238	H	R4238H	Likely benign	0	1	114	23
MUT:KMT2D:Arg4288Gln	PROT:O14686	KMT2D	R	4288	Q	R4288Q	Benign	0	3	114	71
MUT:KMT2D:Arg4420Trp	PROT:O14686	KMT2D	R	4420	W	R4420W	Likely benign	0	1	114	4
MUT:KMT2D:Arg4455Cys	PROT:O14686	KMT2D	R	4455	C	R4455C	Benign	0	1	114	10
MUT:KMT2D:Arg4455His	PROT:O14686	KMT2D	R	4455	H	R4455H	Likely benign	0	1	114	10
MUT:KMT2D:Arg4468Gln	PROT:O14686	KMT2D	R	4468	Q	R4468Q	Benign	0	1	114	2
MUT:KMT2D:Arg4478Gln	PROT:O14686	KMT2D	R	4478	Q	R4478Q	Benign/Likely benign	0	2	114	8
MUT:KMT2D:Arg4478Pro	PROT:O14686	KMT2D	R	4478	P	R4478P	Likely benign	0	1	114	8
MUT:KMT2D:Arg4478Trp	PROT:O14686	KMT2D	R	4478	W	R4478W	Benign	0	2	114	8
MUT:KMT2D:Arg4484Gln	PROT:O14686	KMT2D	R	4484	Q	R4484Q	Benign/Likely benign	0	1	114	14
MUT:KMT2D:Arg4524Gln	PROT:O14686	KMT2D	R	4524	Q	R4524Q	Likely benign	0	1	114	23
MUT:KMT2D:Arg4536Gln	PROT:O14686	KMT2D	R	4536	Q	R4536Q	Likely benign	0	1	114	17
MUT:KMT2D:Arg4659Trp	PROT:O14686	KMT2D	R	4659	W	R4659W	Benign	0	1	114	2
MUT:KMT2D:Arg466Cys	PROT:O14686	KMT2D	R	466	C	R466C	Benign/Likely benign	0	1	114	2
MUT:KMT2D:Arg4729Gln	PROT:O14686	KMT2D	R	4729	Q	R4729Q	Benign	0	1	114	2
MUT:KMT2D:Arg4735Trp	PROT:O14686	KMT2D	R	4735	W	R4735W	Benign	0	1	114	8
MUT:KMT2D:Arg487Gln	PROT:O14686	KMT2D	R	487	Q	R487Q	Benign	0	1	114	10
MUT:KMT2D:Arg4960Gln	PROT:O14686	KMT2D	R	4960	Q	R4960Q	Benign	0	2	114	5
MUT:KMT2D:Arg4975His	PROT:O14686	KMT2D	R	4975	H	R4975H	Benign	0	2	114	1
MUT:KMT2D:Arg4978Cys	PROT:O14686	KMT2D	R	4978	C	R4978C	Benign	0	1	114	4
MUT:KMT2D:Arg4986Cys	PROT:O14686	KMT2D	R	4986	C	R4986C	Likely benign	0	1	114	12
MUT:KMT2D:Arg4986Leu	PROT:O14686	KMT2D	R	4986	L	R4986L	Likely benign	0	1	114	12
MUT:KMT2D:Arg4989Gln	PROT:O14686	KMT2D	R	4989	Q	R4989Q	Benign	0	2	114	15
MUT:KMT2D:Arg5002Trp	PROT:O14686	KMT2D	R	5002	W	R5002W	Benign/Likely benign	0	1	114	28
MUT:KMT2D:Arg5007Gln	PROT:O14686	KMT2D	R	5007	Q	R5007Q	Benign	0	1	114	33
MUT:KMT2D:Arg5007Trp	PROT:O14686	KMT2D	R	5007	W	R5007W	Benign/Likely benign	0	2	114	33
MUT:KMT2D:Arg5030His	PROT:O14686	KMT2D	R	5030	H	R5030H	Pathogenic/Likely pathogenic	1	1	114	56
MUT:KMT2D:Arg5031His	PROT:O14686	KMT2D	R	5031	H	R5031H	Benign	0	1	114	57
MUT:KMT2D:Arg5048His	PROT:O14686	KMT2D	R	5048	H	R5048H	Pathogenic/Likely pathogenic	1	3	114	74
MUT:KMT2D:Arg5086Gln	PROT:O14686	KMT2D	R	5086	Q	R5086Q	Likely benign	0	1	114	112
MUT:KMT2D:Arg5097Gln	PROT:O14686	KMT2D	R	5097	Q	R5097Q	Benign	0	1	114	123
MUT:KMT2D:Arg5106His	PROT:O14686	KMT2D	R	5106	H	R5106H	Benign	0	1	114	132
MUT:KMT2D:Arg5120His	PROT:O14686	KMT2D	R	5120	H	R5120H	Benign	0	1	114	146
MUT:KMT2D:Arg5154Gln	PROT:O14686	KMT2D	R	5154	Q	R5154Q	Pathogenic/Likely pathogenic	1	4	114	122
MUT:KMT2D:Arg5179Cys	PROT:O14686	KMT2D	R	5179	C	R5179C	Pathogenic	1	1	114	97
MUT:KMT2D:Arg5179Gly	PROT:O14686	KMT2D	R	5179	G	R5179G	Likely pathogenic	1	1	114	97
MUT:KMT2D:Arg5179His	PROT:O14686	KMT2D	R	5179	H	R5179H	Pathogenic/Likely pathogenic	1	3	114	97
MUT:KMT2D:Arg5179Leu	PROT:O14686	KMT2D	R	5179	L	R5179L	Likely pathogenic	1	1	114	97
MUT:KMT2D:Arg5179Pro	PROT:O14686	KMT2D	R	5179	P	R5179P	Likely pathogenic	1	1	114	97
MUT:KMT2D:Arg5214Cys	PROT:O14686	KMT2D	R	5214	C	R5214C	Pathogenic	1	2	114	62
MUT:KMT2D:Arg5214His	PROT:O14686	KMT2D	R	5214	H	R5214H	Pathogenic/Likely pathogenic	1	3	114	62
MUT:KMT2D:Arg5214Pro	PROT:O14686	KMT2D	R	5214	P	R5214P	Pathogenic	1	1	114	62
MUT:KMT2D:Arg5220Cys	PROT:O14686	KMT2D	R	5220	C	R5220C	Likely benign	0	1	114	56
MUT:KMT2D:Arg5224Ser	PROT:O14686	KMT2D	R	5224	S	R5224S	Benign	0	1	114	52
MUT:KMT2D:Arg5225Cys	PROT:O14686	KMT2D	R	5225	C	R5225C	Pathogenic	1	2	114	51
MUT:KMT2D:Arg5229Cys	PROT:O14686	KMT2D	R	5229	C	R5229C	Likely benign	0	1	114	47
MUT:KMT2D:Arg5238Gln	PROT:O14686	KMT2D	R	5238	Q	R5238Q	Benign	0	1	114	38
MUT:KMT2D:Arg5238Gly	PROT:O14686	KMT2D	R	5238	G	R5238G	Likely benign	0	1	114	38
MUT:KMT2D:Arg5266Cys	PROT:O14686	KMT2D	R	5266	C	R5266C	Benign/Likely benign	0	1	114	10
MUT:KMT2D:Arg5282Gln	PROT:O14686	KMT2D	R	5282	Q	R5282Q	Likely benign	0	2	114	6
MUT:KMT2D:Arg5303Cys	PROT:O14686	KMT2D	R	5303	C	R5303C	Likely benign	0	2	114	27
MUT:KMT2D:Arg5320His	PROT:O14686	KMT2D	R	5320	H	R5320H	Benign	0	1	114	21
MUT:KMT2D:Arg5340Gln	PROT:O14686	KMT2D	R	5340	Q	R5340Q	Pathogenic/Likely pathogenic	1	2	114	1
MUT:KMT2D:Arg5340Leu	PROT:O14686	KMT2D	R	5340	L	R5340L	Pathogenic	1	1	114	1
MUT:KMT2D:Arg5351Gln	PROT:O14686	KMT2D	R	5351	Q	R5351Q	Pathogenic	1	3	114	2
MUT:KMT2D:Arg5351Trp	PROT:O14686	KMT2D	R	5351	W	R5351W	Likely pathogenic	1	1	114	2
MUT:KMT2D:Arg5392Cys	PROT:O14686	KMT2D	R	5392	C	R5392C	Likely benign	0	1	114	43
MUT:KMT2D:Arg5405Cys	PROT:O14686	KMT2D	R	5405	C	R5405C	Benign	0	1	114	56
MUT:KMT2D:Arg5432Gln	PROT:O14686	KMT2D	R	5432	Q	R5432Q	Pathogenic	1	2	114	66
MUT:KMT2D:Arg5432Leu	PROT:O14686	KMT2D	R	5432	L	R5432L	Likely pathogenic	1	1	114	66
MUT:KMT2D:Arg5432Trp	PROT:O14686	KMT2D	R	5432	W	R5432W	Pathogenic	1	4	114	66
MUT:KMT2D:Arg5439Pro	PROT:O14686	KMT2D	R	5439	P	R5439P	Likely pathogenic	1	1	114	59
MUT:KMT2D:Arg5471Ser	PROT:O14686	KMT2D	R	5471	S	R5471S	Likely pathogenic	1	1	114	27
MUT:KMT2D:Arg5471Trp	PROT:O14686	KMT2D	R	5471	W	R5471W	Likely pathogenic	1	1	114	27
MUT:KMT2D:Arg571Cys	PROT:O14686	KMT2D	R	571	C	R571C	Benign	0	1	114	38
MUT:KMT2D:Arg598His	PROT:O14686	KMT2D	R	598	H	R598H	Likely benign	0	2	114	11
MUT:KMT2D:Arg625His	PROT:O14686	KMT2D	R	625	H	R625H	Likely benign	0	1	114	7
MUT:KMT2D:Arg64Trp	PROT:O14686	KMT2D	R	64	W	R64W	Benign	0	1	114	10
MUT:KMT2D:Arg652His	PROT:O14686	KMT2D	R	652	H	R652H	Benign	0	1	114	2
MUT:KMT2D:Arg65His	PROT:O14686	KMT2D	R	65	H	R65H	Benign	0	1	114	11
MUT:KMT2D:Arg661His	PROT:O14686	KMT2D	R	661	H	R661H	Benign	0	1	114	7
MUT:KMT2D:Arg688Cys	PROT:O14686	KMT2D	R	688	C	R688C	Likely benign	0	2	114	34
MUT:KMT2D:Arg688His	PROT:O14686	KMT2D	R	688	H	R688H	Benign	0	1	114	34
MUT:KMT2D:Arg688Leu	PROT:O14686	KMT2D	R	688	L	R688L	Benign	0	1	114	34
MUT:KMT2D:Arg737Gln	PROT:O14686	KMT2D	R	737	Q	R737Q	Benign	0	1	114	7
MUT:KMT2D:Arg737Trp	PROT:O14686	KMT2D	R	737	W	R737W	Benign/Likely benign	0	3	114	7
MUT:KMT2D:Arg746Gln	PROT:O14686	KMT2D	R	746	Q	R746Q	Likely benign	0	1	114	2
MUT:KMT2D:Arg746Pro	PROT:O14686	KMT2D	R	746	P	R746P	Benign	0	1	114	2
MUT:KMT2D:Arg746Trp	PROT:O14686	KMT2D	R	746	W	R746W	Benign/Likely benign	0	1	114	2
MUT:KMT2D:Arg755Gly	PROT:O14686	KMT2D	R	755	G	R755G	Benign	0	1	114	11
MUT:KMT2D:Arg755Trp	PROT:O14686	KMT2D	R	755	W	R755W	Benign	0	1	114	11
MUT:KMT2D:Arg80Trp	PROT:O14686	KMT2D	R	80	W	R80W	Benign	0	1	114	22
MUT:KMT2D:Arg83Gln	PROT:O14686	KMT2D	R	83	Q	R83Q	Benign	0	1	114	19
MUT:KMT2D:Arg845Gln	PROT:O14686	KMT2D	R	845	Q	R845Q	Benign/Likely benign	0	1	114	101
MUT:KMT2D:Arg84Cys	PROT:O14686	KMT2D	R	84	C	R84C	Benign	0	1	114	18
MUT:KMT2D:Arg863Gln	PROT:O14686	KMT2D	R	863	Q	R863Q	Benign/Likely benign	0	2	114	119
MUT:KMT2D:Arg863Leu	PROT:O14686	KMT2D	R	863	L	R863L	Likely benign	0	1	114	119
MUT:KMT2D:Arg863Pro	PROT:O14686	KMT2D	R	863	P	R863P	Benign	0	1	114	119
MUT:KMT2D:Arg863Trp	PROT:O14686	KMT2D	R	863	W	R863W	Benign	0	1	114	119
MUT:KMT2D:Arg93Trp	PROT:O14686	KMT2D	R	93	W	R93W	Benign	0	1	114	9
MUT:KMT2D:Asn106Lys	PROT:O14686	KMT2D	N	106	K	N106K	Benign/Likely benign	0	1	114	4
MUT:KMT2D:Asn106Ser	PROT:O14686	KMT2D	N	106	S	N106S	Benign/Likely benign	0	1	114	4
MUT:KMT2D:Asn2517Ser	PROT:O14686	KMT2D	N	2517	S	N2517S	Benign/Likely benign	0	1	114	5
MUT:KMT2D:Asn2944Ser	PROT:O14686	KMT2D	N	2944	S	N2944S	Benign	0	1	114	5
MUT:KMT2D:Asn2965Ser	PROT:O14686	KMT2D	N	2965	S	N2965S	Benign/Likely benign	0	1	114	4
MUT:KMT2D:Asn2977Asp	PROT:O14686	KMT2D	N	2977	D	N2977D	Benign	0	1	114	8
MUT:KMT2D:Asn2977Ser	PROT:O14686	KMT2D	N	2977	S	N2977S	Benign	0	1	114	8
MUT:KMT2D:Asn3067Ser	PROT:O14686	KMT2D	N	3067	S	N3067S	Benign	0	1	114	12
MUT:KMT2D:Asn334Asp	PROT:O14686	KMT2D	N	334	D	N334D	Benign/Likely benign	0	2	114	32
MUT:KMT2D:Asn35Ser	PROT:O14686	KMT2D	N	35	S	N35S	Benign	0	1	114	4
MUT:KMT2D:Asn3674Ser	PROT:O14686	KMT2D	N	3674	S	N3674S	Benign	0	1	114	50
MUT:KMT2D:Asn4447Asp	PROT:O14686	KMT2D	N	4447	D	N4447D	Benign	0	1	114	17
MUT:KMT2D:Asn4447Ser	PROT:O14686	KMT2D	N	4447	S	N4447S	Benign	0	2	114	17
MUT:KMT2D:Asn4471Lys	PROT:O14686	KMT2D	N	4471	K	N4471K	Likely benign	0	1	114	1
MUT:KMT2D:Asn4508Ser	PROT:O14686	KMT2D	N	4508	S	N4508S	Likely benign	0	1	114	7
MUT:KMT2D:Asn4586Tyr	PROT:O14686	KMT2D	N	4586	Y	N4586Y	Likely benign	0	1	114	33
MUT:KMT2D:Asn4813Ser	PROT:O14686	KMT2D	N	4813	S	N4813S	Benign	0	1	114	9
MUT:KMT2D:Asn4897Ser	PROT:O14686	KMT2D	N	4897	S	N4897S	Benign	0	1	114	14
MUT:KMT2D:Asn4900Ser	PROT:O14686	KMT2D	N	4900	S	N4900S	Benign	0	1	114	17
MUT:KMT2D:Asn5105Ser	PROT:O14686	KMT2D	N	5105	S	N5105S	Benign	0	1	114	131
MUT:KMT2D:Asn5222Lys	PROT:O14686	KMT2D	N	5222	K	N5222K	Benign	0	1	114	54
MUT:KMT2D:Asn5373His	PROT:O14686	KMT2D	N	5373	H	N5373H	Benign	0	1	114	24
MUT:KMT2D:Asp1100His	PROT:O14686	KMT2D	D	1100	H	D1100H	Benign	0	1	114	35
MUT:KMT2D:Asp1113His	PROT:O14686	KMT2D	D	1113	H	D1113H	Benign/Likely benign	0	1	114	48
MUT:KMT2D:Asp1113Tyr	PROT:O14686	KMT2D	D	1113	Y	D1113Y	Benign	0	2	114	48
MUT:KMT2D:Asp1121Gly	PROT:O14686	KMT2D	D	1121	G	D1121G	Likely benign	0	1	114	56
MUT:KMT2D:Asp1269Glu	PROT:O14686	KMT2D	D	1269	E	D1269E	Benign	0	1	114	1
MUT:KMT2D:Asp1274Glu	PROT:O14686	KMT2D	D	1274	E	D1274E	Benign	0	2	114	4
MUT:KMT2D:Asp1356Glu	PROT:O14686	KMT2D	D	1356	E	D1356E	Likely benign	0	1	114	21
MUT:KMT2D:Asp1438Asn	PROT:O14686	KMT2D	D	1438	N	D1438N	Benign	0	1	114	103
MUT:KMT2D:Asp1734Tyr	PROT:O14686	KMT2D	D	1734	Y	D1734Y	Likely benign	0	1	114	12
MUT:KMT2D:Asp1825Asn	PROT:O14686	KMT2D	D	1825	N	D1825N	Likely benign	0	1	114	9
MUT:KMT2D:Asp1897Asn	PROT:O14686	KMT2D	D	1897	N	D1897N	Likely benign	0	1	114	1
MUT:KMT2D:Asp1942Asn	PROT:O14686	KMT2D	D	1942	N	D1942N	Likely benign	0	1	114	8
MUT:KMT2D:Asp2037His	PROT:O14686	KMT2D	D	2037	H	D2037H	Likely pathogenic	1	1	114	87
MUT:KMT2D:Asp2092Asn	PROT:O14686	KMT2D	D	2092	N	D2092N	Benign	0	2	114	63
MUT:KMT2D:Asp2175Gly	PROT:O14686	KMT2D	D	2175	G	D2175G	Likely benign	0	1	114	20
MUT:KMT2D:Asp2242Tyr	PROT:O14686	KMT2D	D	2242	Y	D2242Y	Likely benign	0	1	114	2
MUT:KMT2D:Asp257Gly	PROT:O14686	KMT2D	D	257	G	D257G	Likely benign	0	1	114	109
MUT:KMT2D:Asp2622Asn	PROT:O14686	KMT2D	D	2622	N	D2622N	Benign	0	2	114	104
MUT:KMT2D:Asp2769Asn	PROT:O14686	KMT2D	D	2769	N	D2769N	Benign	0	1	114	27
MUT:KMT2D:Asp2Glu	PROT:O14686	KMT2D	D	2	E	D2E	Benign	0	1	114	25
MUT:KMT2D:Asp3419Gly	PROT:O14686	KMT2D	D	3419	G	D3419G	Benign/Likely benign	0	4	114	14
MUT:KMT2D:Asp386Asn	PROT:O14686	KMT2D	D	386	N	D386N	Benign	0	1	114	6
MUT:KMT2D:Asp4660His	PROT:O14686	KMT2D	D	4660	H	D4660H	Benign/Likely benign	0	1	114	1
MUT:KMT2D:Asp4700Asn	PROT:O14686	KMT2D	D	4700	N	D4700N	Benign	0	1	114	12
MUT:KMT2D:Asp4703Tyr	PROT:O14686	KMT2D	D	4703	Y	D4703Y	Benign	0	1	114	15
MUT:KMT2D:Asp4861Asn	PROT:O14686	KMT2D	D	4861	N	D4861N	Likely benign	0	2	114	9
MUT:KMT2D:Asp5028His	PROT:O14686	KMT2D	D	5028	H	D5028H	Likely pathogenic	1	1	114	54
MUT:KMT2D:Asp966Val	PROT:O14686	KMT2D	D	966	V	D966V	Benign	0	1	114	99
MUT:KMT2D:Cys1024Arg	PROT:O14686	KMT2D	C	1024	R	C1024R	Benign	0	2	114	41
MUT:KMT2D:Cys1172Tyr	PROT:O14686	KMT2D	C	1172	Y	C1172Y	Benign	0	1	114	23
MUT:KMT2D:Cys1273Tyr	PROT:O14686	KMT2D	C	1273	Y	C1273Y	Benign	0	1	114	3
MUT:KMT2D:Cys1380Arg	PROT:O14686	KMT2D	C	1380	R	C1380R	Likely pathogenic	1	1	114	45
MUT:KMT2D:Cys1383Tyr	PROT:O14686	KMT2D	C	1383	Y	C1383Y	Pathogenic	1	1	114	48
MUT:KMT2D:Cys1408Gly	PROT:O14686	KMT2D	C	1408	G	C1408G	Likely pathogenic	1	1	114	73
MUT:KMT2D:Cys1427Tyr	PROT:O14686	KMT2D	C	1427	Y	C1427Y	Likely pathogenic	1	1	114	92
MUT:KMT2D:Cys1430Trp	PROT:O14686	KMT2D	C	1430	W	C1430W	Likely pathogenic	1	1	114	95
MUT:KMT2D:Cys1471Trp	PROT:O14686	KMT2D	C	1471	W	C1471W	Pathogenic	1	1	114	136
MUT:KMT2D:Cys1507Tyr	PROT:O14686	KMT2D	C	1507	Y	C1507Y	Likely pathogenic	1	1	114	164
MUT:KMT2D:Cys346Ser	PROT:O14686	KMT2D	C	346	S	C346S	Likely benign	0	1	114	20
MUT:KMT2D:Cys369Tyr	PROT:O14686	KMT2D	C	369	Y	C369Y	Likely benign	0	1	114	3
MUT:KMT2D:Cys4424Tyr	PROT:O14686	KMT2D	C	4424	Y	C4424Y	Benign	0	1	114	6
MUT:KMT2D:Cys5035Tyr	PROT:O14686	KMT2D	C	5035	Y	C5035Y	Pathogenic	1	1	114	61
MUT:KMT2D:Cys5062Ser	PROT:O14686	KMT2D	C	5062	S	C5062S	Likely pathogenic	1	1	114	88
MUT:KMT2D:Cys5062Tyr	PROT:O14686	KMT2D	C	5062	Y	C5062Y	Pathogenic	1	1	114	88
MUT:KMT2D:Cys5092Phe	PROT:O14686	KMT2D	C	5092	F	C5092F	Likely pathogenic	1	1	114	118
MUT:KMT2D:Cys5095Ser	PROT:O14686	KMT2D	C	5095	S	C5095S	Likely pathogenic	1	1	114	121
MUT:KMT2D:Cys5104Phe	PROT:O14686	KMT2D	C	5104	F	C5104F	Likely pathogenic	1	1	114	130
MUT:KMT2D:Cys5117Gly	PROT:O14686	KMT2D	C	5117	G	C5117G	Pathogenic	1	2	114	143
MUT:KMT2D:Cys5133Arg	PROT:O14686	KMT2D	C	5133	R	C5133R	Likely pathogenic	1	1	114	143
MUT:KMT2D:Cys5230Tyr	PROT:O14686	KMT2D	C	5230	Y	C5230Y	Pathogenic	1	2	114	46
MUT:KMT2D:Cys5338Tyr	PROT:O14686	KMT2D	C	5338	Y	C5338Y	Pathogenic	1	1	114	3
MUT:KMT2D:Cys5481Tyr	PROT:O14686	KMT2D	C	5481	Y	C5481Y	Pathogenic/Likely pathogenic	1	1	114	17
MUT:KMT2D:Cys735Phe	PROT:O14686	KMT2D	C	735	F	C735F	Likely benign	0	2	114	9
MUT:KMT2D:Cys874Ser	PROT:O14686	KMT2D	C	874	S	C874S	Likely benign	0	1	114	130
MUT:KMT2D:Gln1139Glu	PROT:O14686	KMT2D	Q	1139	E	Q1139E	Benign	0	1	114	56
MUT:KMT2D:Gln1213His	PROT:O14686	KMT2D	Q	1213	H	Q1213H	Likely benign	0	1	114	15
MUT:KMT2D:Gln1377Pro	PROT:O14686	KMT2D	Q	1377	P	Q1377P	Likely pathogenic	1	1	114	42
MUT:KMT2D:Gln170His	PROT:O14686	KMT2D	Q	170	H	Q170H	Likely pathogenic	1	1	114	68
MUT:KMT2D:Gln1821Arg	PROT:O14686	KMT2D	Q	1821	R	Q1821R	Benign	0	1	114	13
MUT:KMT2D:Gln2166Arg	PROT:O14686	KMT2D	Q	2166	R	Q2166R	Benign	0	1	114	11
MUT:KMT2D:Gln2170Lys	PROT:O14686	KMT2D	Q	2170	K	Q2170K	Benign	0	1	114	15
MUT:KMT2D:Gln2350Arg	PROT:O14686	KMT2D	Q	2350	R	Q2350R	Likely benign	0	1	114	8
MUT:KMT2D:Gln2684Arg	PROT:O14686	KMT2D	Q	2684	R	Q2684R	Likely benign	0	1	114	42
MUT:KMT2D:Gln2876Pro	PROT:O14686	KMT2D	Q	2876	P	Q2876P	Benign	0	1	114	73
MUT:KMT2D:Gln3311Arg	PROT:O14686	KMT2D	Q	3311	R	Q3311R	Benign/Likely benign	0	1	114	82
MUT:KMT2D:Gln3360His	PROT:O14686	KMT2D	Q	3360	H	Q3360H	Likely benign	0	1	114	73
MUT:KMT2D:Gln3379Arg	PROT:O14686	KMT2D	Q	3379	R	Q3379R	Benign	0	1	114	54
MUT:KMT2D:Gln3499Lys	PROT:O14686	KMT2D	Q	3499	K	Q3499K	Benign	0	1	114	36
MUT:KMT2D:Gln3570Pro	PROT:O14686	KMT2D	Q	3570	P	Q3570P	Likely pathogenic	1	1	114	50
MUT:KMT2D:Gln3580His	PROT:O14686	KMT2D	Q	3580	H	Q3580H	Pathogenic	1	1	114	40
MUT:KMT2D:Gln3667Arg	PROT:O14686	KMT2D	Q	3667	R	Q3667R	Likely benign	0	1	114	43
MUT:KMT2D:Gln3682Glu	PROT:O14686	KMT2D	Q	3682	E	Q3682E	Likely benign	0	1	114	58
MUT:KMT2D:Gln3717Arg	PROT:O14686	KMT2D	Q	3717	R	Q3717R	Benign	0	2	114	93
MUT:KMT2D:Gln3720His	PROT:O14686	KMT2D	Q	3720	H	Q3720H	Benign	0	1	114	96
MUT:KMT2D:Gln3725Pro	PROT:O14686	KMT2D	Q	3725	P	Q3725P	Benign/Likely benign	0	1	114	101
MUT:KMT2D:Gln3732Leu	PROT:O14686	KMT2D	Q	3732	L	Q3732L	Benign	0	1	114	105
MUT:KMT2D:Gln3739Arg	PROT:O14686	KMT2D	Q	3739	R	Q3739R	Likely benign	0	1	114	98
MUT:KMT2D:Gln3767Glu	PROT:O14686	KMT2D	Q	3767	E	Q3767E	Benign/Likely benign	0	1	114	70
MUT:KMT2D:Gln3793Pro	PROT:O14686	KMT2D	Q	3793	P	Q3793P	Benign	0	1	114	44
MUT:KMT2D:Gln3857Leu	PROT:O14686	KMT2D	Q	3857	L	Q3857L	Benign/Likely benign	0	2	114	20
MUT:KMT2D:Gln3860Glu	PROT:O14686	KMT2D	Q	3860	E	Q3860E	Benign	0	1	114	23
MUT:KMT2D:Gln3863His	PROT:O14686	KMT2D	Q	3863	H	Q3863H	Benign	0	1	114	26
MUT:KMT2D:Gln3886His	PROT:O14686	KMT2D	Q	3886	H	Q3886H	Benign	0	1	114	49
MUT:KMT2D:Gln3899Arg	PROT:O14686	KMT2D	Q	3899	R	Q3899R	Benign	0	1	114	62
MUT:KMT2D:Gln3899Lys	PROT:O14686	KMT2D	Q	3899	K	Q3899K	Benign/Likely benign	0	1	114	62
MUT:KMT2D:Gln3909His	PROT:O14686	KMT2D	Q	3909	H	Q3909H	Likely benign	0	1	114	72
MUT:KMT2D:Gln3918His	PROT:O14686	KMT2D	Q	3918	H	Q3918H	Likely benign	0	2	114	81
MUT:KMT2D:Gln3946His	PROT:O14686	KMT2D	Q	3946	H	Q3946H	Likely benign	0	1	114	58
MUT:KMT2D:Gln3961Pro	PROT:O14686	KMT2D	Q	3961	P	Q3961P	Likely benign	0	1	114	43
MUT:KMT2D:Gln3962His	PROT:O14686	KMT2D	Q	3962	H	Q3962H	Likely benign	0	1	114	42
MUT:KMT2D:Gln3962Lys	PROT:O14686	KMT2D	Q	3962	K	Q3962K	Likely benign	0	1	114	42
MUT:KMT2D:Gln3974Pro	PROT:O14686	KMT2D	Q	3974	P	Q3974P	Likely benign	0	1	114	30
MUT:KMT2D:Gln3993Glu	PROT:O14686	KMT2D	Q	3993	E	Q3993E	Benign	0	1	114	11
MUT:KMT2D:Gln4007Lys	PROT:O14686	KMT2D	Q	4007	K	Q4007K	Likely benign	0	1	114	3
MUT:KMT2D:Gln4101Pro	PROT:O14686	KMT2D	Q	4101	P	Q4101P	Benign	0	1	114	90
MUT:KMT2D:Gln4157Pro	PROT:O14686	KMT2D	Q	4157	P	Q4157P	Benign	0	1	114	58
MUT:KMT2D:Gln4171Arg	PROT:O14686	KMT2D	Q	4171	R	Q4171R	Benign	0	1	114	44
MUT:KMT2D:Gln4219Pro	PROT:O14686	KMT2D	Q	4219	P	Q4219P	Likely benign	0	1	114	4
MUT:KMT2D:Gln4228Glu	PROT:O14686	KMT2D	Q	4228	E	Q4228E	Likely benign	0	1	114	13
MUT:KMT2D:Gln4233His	PROT:O14686	KMT2D	Q	4233	H	Q4233H	Benign	0	1	114	18
MUT:KMT2D:Gln4244Arg	PROT:O14686	KMT2D	Q	4244	R	Q4244R	Likely benign	0	1	114	29
MUT:KMT2D:Gln425Arg	PROT:O14686	KMT2D	Q	425	R	Q425R	Benign	0	1	114	43
MUT:KMT2D:Gln4260His	PROT:O14686	KMT2D	Q	4260	H	Q4260H	Benign	0	1	114	45
MUT:KMT2D:Gln4315Arg	PROT:O14686	KMT2D	Q	4315	R	Q4315R	Benign/Likely benign	0	1	114	44
MUT:KMT2D:Gln4391Arg	PROT:O14686	KMT2D	Q	4391	R	Q4391R	Benign	0	1	114	25
MUT:KMT2D:Gln4464Glu	PROT:O14686	KMT2D	Q	4464	E	Q4464E	Benign	0	1	114	1
MUT:KMT2D:Gln4557Pro	PROT:O14686	KMT2D	Q	4557	P	Q4557P	Likely pathogenic	1	1	114	4
MUT:KMT2D:Gln4588Arg	PROT:O14686	KMT2D	Q	4588	R	Q4588R	Benign	0	1	114	35
MUT:KMT2D:Gln5170His	PROT:O14686	KMT2D	Q	5170	H	Q5170H	Likely benign	0	1	114	106
MUT:KMT2D:Gln52Arg	PROT:O14686	KMT2D	Q	52	R	Q52R	Benign	0	1	114	2
MUT:KMT2D:Glu1018Ala	PROT:O14686	KMT2D	E	1018	A	E1018A	Likely benign	0	1	114	47
MUT:KMT2D:Glu1072Lys	PROT:O14686	KMT2D	E	1072	K	E1072K	Benign	0	2	114	7
MUT:KMT2D:Glu1120Lys	PROT:O14686	KMT2D	E	1120	K	E1120K	Benign/Likely benign	0	1	114	55
MUT:KMT2D:Glu1136Asp	PROT:O14686	KMT2D	E	1136	D	E1136D	Likely benign	0	1	114	59
MUT:KMT2D:Glu1147Lys	PROT:O14686	KMT2D	E	1147	K	E1147K	Likely benign	0	1	114	48
MUT:KMT2D:Glu1184Lys	PROT:O14686	KMT2D	E	1184	K	E1184K	Likely benign	0	1	114	11
MUT:KMT2D:Glu1207Lys	PROT:O14686	KMT2D	E	1207	K	E1207K	Benign	0	1	114	9
MUT:KMT2D:Glu1254Ala	PROT:O14686	KMT2D	E	1254	A	E1254A	Likely pathogenic	1	1	114	5
MUT:KMT2D:Glu1285Asp	PROT:O14686	KMT2D	E	1285	D	E1285D	Benign	0	1	114	8
MUT:KMT2D:Glu1391Lys	PROT:O14686	KMT2D	E	1391	K	E1391K	Likely pathogenic	1	1	114	56
MUT:KMT2D:Glu153Gln	PROT:O14686	KMT2D	E	153	Q	E153Q	Likely benign	0	1	114	51
MUT:KMT2D:Glu1549Val	PROT:O14686	KMT2D	E	1549	V	E1549V	Likely benign	0	1	114	122
MUT:KMT2D:Glu1667Val	PROT:O14686	KMT2D	E	1667	V	E1667V	Likely benign	0	1	114	4
MUT:KMT2D:Glu1680Lys	PROT:O14686	KMT2D	E	1680	K	E1680K	Benign	0	2	114	9
MUT:KMT2D:Glu1738Gly	PROT:O14686	KMT2D	E	1738	G	E1738G	Likely benign	0	1	114	16
MUT:KMT2D:Glu1832Asp	PROT:O14686	KMT2D	E	1832	D	E1832D	Benign/Likely benign	0	1	114	2
MUT:KMT2D:Glu1838Gln	PROT:O14686	KMT2D	E	1838	Q	E1838Q	Benign	0	1	114	4
MUT:KMT2D:Glu1904Gly	PROT:O14686	KMT2D	E	1904	G	E1904G	Likely benign	0	1	114	7
MUT:KMT2D:Glu2007Gln	PROT:O14686	KMT2D	E	2007	Q	E2007Q	Likely benign	0	1	114	57
MUT:KMT2D:Glu2270Lys	PROT:O14686	KMT2D	E	2270	K	E2270K	Benign	0	1	114	4
MUT:KMT2D:Glu3004Gln	PROT:O14686	KMT2D	E	3004	Q	E3004Q	Pathogenic	1	1	114	35
MUT:KMT2D:Glu3123Lys	PROT:O14686	KMT2D	E	3123	K	E3123K	Likely benign	0	1	114	2
MUT:KMT2D:Glu3216Lys	PROT:O14686	KMT2D	E	3216	K	E3216K	Benign	0	1	114	13
MUT:KMT2D:Glu3237Lys	PROT:O14686	KMT2D	E	3237	K	E3237K	Benign/Likely benign	0	2	114	8
MUT:KMT2D:Glu3569Gly	PROT:O14686	KMT2D	E	3569	G	E3569G	Likely pathogenic	1	1	114	51
MUT:KMT2D:Glu4333Asp	PROT:O14686	KMT2D	E	4333	D	E4333D	Benign/Likely benign	0	2	114	26
MUT:KMT2D:Glu436Lys	PROT:O14686	KMT2D	E	436	K	E436K	Benign	0	1	114	32
MUT:KMT2D:Glu437Asp	PROT:O14686	KMT2D	E	437	D	E437D	Benign	0	1	114	31
MUT:KMT2D:Glu4438Lys	PROT:O14686	KMT2D	E	4438	K	E4438K	Benign	0	1	114	8
MUT:KMT2D:Glu4481Lys	PROT:O14686	KMT2D	E	4481	K	E4481K	Benign	0	1	114	11
MUT:KMT2D:Glu4549Lys	PROT:O14686	KMT2D	E	4549	K	E4549K	Likely benign	0	1	114	4
MUT:KMT2D:Glu4733Lys	PROT:O14686	KMT2D	E	4733	K	E4733K	Benign/Likely benign	0	1	114	6
MUT:KMT2D:Glu4821Gly	PROT:O14686	KMT2D	E	4821	G	E4821G	Likely benign	0	1	114	1
MUT:KMT2D:Glu4829Lys	PROT:O14686	KMT2D	E	4829	K	E4829K	Benign	0	1	114	7
MUT:KMT2D:Glu4836Lys	PROT:O14686	KMT2D	E	4836	K	E4836K	Benign	0	1	114	13
MUT:KMT2D:Glu4842Gly	PROT:O14686	KMT2D	E	4842	G	E4842G	Likely benign	0	1	114	7
MUT:KMT2D:Glu4939Lys	PROT:O14686	KMT2D	E	4939	K	E4939K	Benign	0	1	114	16
MUT:KMT2D:Glu5014Asp	PROT:O14686	KMT2D	E	5014	D	E5014D	Likely benign	0	1	114	40
MUT:KMT2D:Glu5211Lys	PROT:O14686	KMT2D	E	5211	K	E5211K	Benign	0	1	114	65
MUT:KMT2D:Glu5269Asp	PROT:O14686	KMT2D	E	5269	D	E5269D	Benign	0	1	114	7
MUT:KMT2D:Glu5425Lys	PROT:O14686	KMT2D	E	5425	K	E5425K	Pathogenic	1	1	114	73
MUT:KMT2D:Glu587Gln	PROT:O14686	KMT2D	E	587	Q	E587Q	Benign/Likely benign	0	3	114	22
MUT:KMT2D:Glu587Lys	PROT:O14686	KMT2D	E	587	K	E587K	Benign	0	1	114	22
MUT:KMT2D:Glu694Asp	PROT:O14686	KMT2D	E	694	D	E694D	Likely benign	0	1	114	40
MUT:KMT2D:Glu712Gly	PROT:O14686	KMT2D	E	712	G	E712G	Benign	0	1	114	32
MUT:KMT2D:Glu731Asp	PROT:O14686	KMT2D	E	731	D	E731D	Likely benign	0	1	114	13
MUT:KMT2D:Glu739Lys	PROT:O14686	KMT2D	E	739	K	E739K	Benign/Likely benign	0	1	114	5
MUT:KMT2D:Glu757Gln	PROT:O14686	KMT2D	E	757	Q	E757Q	Benign	0	1	114	13
MUT:KMT2D:Glu776Lys	PROT:O14686	KMT2D	E	776	K	E776K	Benign	0	1	114	32
MUT:KMT2D:Glu839Lys	PROT:O14686	KMT2D	E	839	K	E839K	Benign	0	1	114	95
MUT:KMT2D:Glu956Asp	PROT:O14686	KMT2D	E	956	D	E956D	Likely benign	0	1	114	109
MUT:KMT2D:Glu956Lys	PROT:O14686	KMT2D	E	956	K	E956K	Likely benign	0	1	114	109
MUT:KMT2D:Glu958Lys	PROT:O14686	KMT2D	E	958	K	E958K	Benign	0	1	114	107
MUT:KMT2D:Gly1006Arg	PROT:O14686	KMT2D	G	1006	R	G1006R	Benign/Likely benign	0	2	114	59
MUT:KMT2D:Gly1010Arg	PROT:O14686	KMT2D	G	1010	R	G1010R	Likely benign	0	2	114	55
MUT:KMT2D:Gly1119Glu	PROT:O14686	KMT2D	G	1119	E	G1119E	Likely benign	0	1	114	54
MUT:KMT2D:Gly1281Arg	PROT:O14686	KMT2D	G	1281	R	G1281R	Benign/Likely benign	0	1	114	11
MUT:KMT2D:Gly1282Asp	PROT:O14686	KMT2D	G	1282	D	G1282D	Likely benign	0	1	114	11
MUT:KMT2D:Gly1286Arg	PROT:O14686	KMT2D	G	1286	R	G1286R	Benign	0	2	114	7
MUT:KMT2D:Gly1421Asp	PROT:O14686	KMT2D	G	1421	D	G1421D	Likely pathogenic	1	1	114	86
MUT:KMT2D:Gly148Asp	PROT:O14686	KMT2D	G	148	D	G148D	Likely benign	0	1	114	46
MUT:KMT2D:Gly1589Ser	PROT:O14686	KMT2D	G	1589	S	G1589S	Likely benign	0	1	114	82
MUT:KMT2D:Gly1758Ala	PROT:O14686	KMT2D	G	1758	A	G1758A	Likely benign	0	1	114	4
MUT:KMT2D:Gly1826Val	PROT:O14686	KMT2D	G	1826	V	G1826V	Benign	0	1	114	8
MUT:KMT2D:Gly1850Asp	PROT:O14686	KMT2D	G	1850	D	G1850D	Benign	0	2	114	4
MUT:KMT2D:Gly1933Val	PROT:O14686	KMT2D	G	1933	V	G1933V	Benign	0	1	114	17
MUT:KMT2D:Gly1946Asp	PROT:O14686	KMT2D	G	1946	D	G1946D	Likely benign	0	1	114	4
MUT:KMT2D:Gly202Ser	PROT:O14686	KMT2D	G	202	S	G202S	Benign	0	1	114	100
MUT:KMT2D:Gly2134Ser	PROT:O14686	KMT2D	G	2134	S	G2134S	Likely benign	0	1	114	21
MUT:KMT2D:Gly2157Val	PROT:O14686	KMT2D	G	2157	V	G2157V	Benign	0	1	114	2
MUT:KMT2D:Gly2178Glu	PROT:O14686	KMT2D	G	2178	E	G2178E	Likely benign	0	1	114	23
MUT:KMT2D:Gly2279Glu	PROT:O14686	KMT2D	G	2279	E	G2279E	Benign/Likely benign	0	3	114	5
MUT:KMT2D:Gly2318Asp	PROT:O14686	KMT2D	G	2318	D	G2318D	Benign	0	1	114	4
MUT:KMT2D:Gly2344Asp	PROT:O14686	KMT2D	G	2344	D	G2344D	Benign/Likely benign	0	1	114	2
MUT:KMT2D:Gly2346Ser	PROT:O14686	KMT2D	G	2346	S	G2346S	Benign	0	1	114	4
MUT:KMT2D:Gly234Glu	PROT:O14686	KMT2D	G	234	E	G234E	Likely benign	0	1	114	132
MUT:KMT2D:Gly2493Glu	PROT:O14686	KMT2D	G	2493	E	G2493E	Benign/Likely benign	0	2	114	19
MUT:KMT2D:Gly2501Glu	PROT:O14686	KMT2D	G	2501	E	G2501E	Benign	0	1	114	11
MUT:KMT2D:Gly2525Cys	PROT:O14686	KMT2D	G	2525	C	G2525C	Likely benign	0	1	114	13
MUT:KMT2D:Gly253Arg	PROT:O14686	KMT2D	G	253	R	G253R	Benign/Likely benign	0	1	114	113
MUT:KMT2D:Gly2543Val	PROT:O14686	KMT2D	G	2543	V	G2543V	Benign	0	1	114	31
MUT:KMT2D:Gly2555Ser	PROT:O14686	KMT2D	G	2555	S	G2555S	Benign	0	1	114	43
MUT:KMT2D:Gly2599Val	PROT:O14686	KMT2D	G	2599	V	G2599V	Likely benign	0	1	114	87
MUT:KMT2D:Gly2651Arg	PROT:O14686	KMT2D	G	2651	R	G2651R	Likely benign	0	1	114	75
MUT:KMT2D:Gly2671Ser	PROT:O14686	KMT2D	G	2671	S	G2671S	Benign/Likely benign	0	2	114	55
MUT:KMT2D:Gly2721Asp	PROT:O14686	KMT2D	G	2721	D	G2721D	Likely benign	0	2	114	5
MUT:KMT2D:Gly2735Cys	PROT:O14686	KMT2D	G	2735	C	G2735C	Likely benign	0	1	114	2
MUT:KMT2D:Gly2750Glu	PROT:O14686	KMT2D	G	2750	E	G2750E	Likely benign	0	1	114	8
MUT:KMT2D:Gly2892Ser	PROT:O14686	KMT2D	G	2892	S	G2892S	Likely benign	0	1	114	57
MUT:KMT2D:Gly2892Val	PROT:O14686	KMT2D	G	2892	V	G2892V	Benign	0	1	114	57
MUT:KMT2D:Gly2899Ser	PROT:O14686	KMT2D	G	2899	S	G2899S	Benign	0	1	114	50
MUT:KMT2D:Gly3151Val	PROT:O14686	KMT2D	G	3151	V	G3151V	Benign	0	1	114	21
MUT:KMT2D:Gly3186Glu	PROT:O14686	KMT2D	G	3186	E	G3186E	Benign	0	1	114	7
MUT:KMT2D:Gly3189Arg	PROT:O14686	KMT2D	G	3189	R	G3189R	Likely benign	0	1	114	8
MUT:KMT2D:Gly3205Arg	PROT:O14686	KMT2D	G	3205	R	G3205R	Likely benign	0	1	114	3
MUT:KMT2D:Gly3301Asp	PROT:O14686	KMT2D	G	3301	D	G3301D	Benign	0	1	114	72
MUT:KMT2D:Gly3316Ser	PROT:O14686	KMT2D	G	3316	S	G3316S	Likely benign	0	1	114	87
MUT:KMT2D:Gly3324Arg	PROT:O14686	KMT2D	G	3324	R	G3324R	Benign	0	1	114	95
MUT:KMT2D:Gly3324Val	PROT:O14686	KMT2D	G	3324	V	G3324V	Benign	0	1	114	95
MUT:KMT2D:Gly3464Glu	PROT:O14686	KMT2D	G	3464	E	G3464E	Benign	0	1	114	1
MUT:KMT2D:Gly3465Val	PROT:O14686	KMT2D	G	3465	V	G3465V	Benign	0	1	114	2
MUT:KMT2D:Gly3479Ala	PROT:O14686	KMT2D	G	3479	A	G3479A	Likely benign	0	1	114	16
MUT:KMT2D:Gly3553Val	PROT:O14686	KMT2D	G	3553	V	G3553V	Pathogenic	1	1	114	67
MUT:KMT2D:Gly3653Arg	PROT:O14686	KMT2D	G	3653	R	G3653R	Benign	0	1	114	29
MUT:KMT2D:Gly3660Ala	PROT:O14686	KMT2D	G	3660	A	G3660A	Likely benign	0	1	114	36
MUT:KMT2D:Gly3661Ser	PROT:O14686	KMT2D	G	3661	S	G3661S	Benign	0	1	114	37
MUT:KMT2D:Gly3669Asp	PROT:O14686	KMT2D	G	3669	D	G3669D	Benign	0	1	114	45
MUT:KMT2D:Gly3688Ala	PROT:O14686	KMT2D	G	3688	A	G3688A	Likely benign	0	1	114	64
MUT:KMT2D:Gly3694Asp	PROT:O14686	KMT2D	G	3694	D	G3694D	Benign	0	1	114	70
MUT:KMT2D:Gly3822Asp	PROT:O14686	KMT2D	G	3822	D	G3822D	Benign	0	1	114	15
MUT:KMT2D:Gly3872Glu	PROT:O14686	KMT2D	G	3872	E	G3872E	Benign	0	1	114	35
MUT:KMT2D:Gly3976Ser	PROT:O14686	KMT2D	G	3976	S	G3976S	Likely benign	0	1	114	28
MUT:KMT2D:Gly39Arg	PROT:O14686	KMT2D	G	39	R	G39R	Likely benign	0	1	114	6
MUT:KMT2D:Gly4046Glu	PROT:O14686	KMT2D	G	4046	E	G4046E	Likely benign	0	2	114	35
MUT:KMT2D:Gly4052Glu	PROT:O14686	KMT2D	G	4052	E	G4052E	Benign	0	1	114	41
MUT:KMT2D:Gly4120Asp	PROT:O14686	KMT2D	G	4120	D	G4120D	Likely benign	0	1	114	95
MUT:KMT2D:Gly4142Glu	PROT:O14686	KMT2D	G	4142	E	G4142E	Likely benign	0	1	114	73
MUT:KMT2D:Gly4182Trp	PROT:O14686	KMT2D	G	4182	W	G4182W	Benign	0	1	114	33
MUT:KMT2D:Gly4184Val	PROT:O14686	KMT2D	G	4184	V	G4184V	Likely benign	0	1	114	31
MUT:KMT2D:Gly4189Arg	PROT:O14686	KMT2D	G	4189	R	G4189R	Benign	0	1	114	26
MUT:KMT2D:Gly4203Ala	PROT:O14686	KMT2D	G	4203	A	G4203A	Benign	0	1	114	12
MUT:KMT2D:Gly4255Asp	PROT:O14686	KMT2D	G	4255	D	G4255D	Benign	0	2	114	40
MUT:KMT2D:Gly4268Glu	PROT:O14686	KMT2D	G	4268	E	G4268E	Benign	0	1	114	53
MUT:KMT2D:Gly4280Arg	PROT:O14686	KMT2D	G	4280	R	G4280R	Benign	0	1	114	65
MUT:KMT2D:Gly4373Ser	PROT:O14686	KMT2D	G	4373	S	G4373S	Benign	0	1	114	14
MUT:KMT2D:Gly4544Arg	PROT:O14686	KMT2D	G	4544	R	G4544R	Benign	0	1	114	9
MUT:KMT2D:Gly4649Glu	PROT:O14686	KMT2D	G	4649	E	G4649E	Likely benign	0	1	114	6
MUT:KMT2D:Gly4716Trp	PROT:O14686	KMT2D	G	4716	W	G4716W	Benign	0	1	114	11
MUT:KMT2D:Gly4759Arg	PROT:O14686	KMT2D	G	4759	R	G4759R	Benign	0	1	114	3
MUT:KMT2D:Gly4833Arg	PROT:O14686	KMT2D	G	4833	R	G4833R	Benign/Likely benign	0	2	114	11
MUT:KMT2D:Gly4847Asp	PROT:O14686	KMT2D	G	4847	D	G4847D	Likely benign	0	1	114	2
MUT:KMT2D:His1030Arg	PROT:O14686	KMT2D	H	1030	R	H1030R	Benign	0	1	114	35
MUT:KMT2D:His1071Gln	PROT:O14686	KMT2D	H	1071	Q	H1071Q	Likely benign	0	1	114	6
MUT:KMT2D:His139Gln	PROT:O14686	KMT2D	H	139	Q	H139Q	Likely benign	0	1	114	37
MUT:KMT2D:His1405Arg	PROT:O14686	KMT2D	H	1405	R	H1405R	Likely pathogenic	1	1	114	70
MUT:KMT2D:His1405Leu	PROT:O14686	KMT2D	H	1405	L	H1405L	Likely pathogenic	1	1	114	70
MUT:KMT2D:His1453Arg	PROT:O14686	KMT2D	H	1453	R	H1453R	Pathogenic/Likely pathogenic	1	1	114	118
MUT:KMT2D:His1453Gln	PROT:O14686	KMT2D	H	1453	Q	H1453Q	Likely pathogenic	1	2	114	118
MUT:KMT2D:His1707Gln	PROT:O14686	KMT2D	H	1707	Q	H1707Q	Benign	0	1	114	15
MUT:KMT2D:His174Arg	PROT:O14686	KMT2D	H	174	R	H174R	Likely benign	0	1	114	72
MUT:KMT2D:His1906Arg	PROT:O14686	KMT2D	H	1906	R	H1906R	Likely benign	0	1	114	5
MUT:KMT2D:His2103Arg	PROT:O14686	KMT2D	H	2103	R	H2103R	Likely benign	0	1	114	52
MUT:KMT2D:His2227Arg	PROT:O14686	KMT2D	H	2227	R	H2227R	Likely benign	0	1	114	1
MUT:KMT2D:His2467Pro	PROT:O14686	KMT2D	H	2467	P	H2467P	Benign	0	1	114	45
MUT:KMT2D:His2507Gln	PROT:O14686	KMT2D	H	2507	Q	H2507Q	Likely benign	0	1	114	5
MUT:KMT2D:His3355Tyr	PROT:O14686	KMT2D	H	3355	Y	H3355Y	Benign	0	1	114	78
MUT:KMT2D:His37Tyr	PROT:O14686	KMT2D	H	37	Y	H37Y	Benign/Likely benign	0	1	114	6
MUT:KMT2D:His4306Pro	PROT:O14686	KMT2D	H	4306	P	H4306P	Benign	0	1	114	53
MUT:KMT2D:His4724Pro	PROT:O14686	KMT2D	H	4724	P	H4724P	Likely benign	0	1	114	3
MUT:KMT2D:His5059Arg	PROT:O14686	KMT2D	H	5059	R	H5059R	Likely pathogenic	1	1	114	85
MUT:KMT2D:His5382Gln	PROT:O14686	KMT2D	H	5382	Q	H5382Q	Likely benign	0	1	114	33
MUT:KMT2D:His769Pro	PROT:O14686	KMT2D	H	769	P	H769P	Likely benign	0	1	114	25
MUT:KMT2D:His769Tyr	PROT:O14686	KMT2D	H	769	Y	H769Y	Likely benign	0	1	114	25
MUT:KMT2D:His796Gln	PROT:O14686	KMT2D	H	796	Q	H796Q	Likely benign	0	2	114	52
MUT:KMT2D:His796Tyr	PROT:O14686	KMT2D	H	796	Y	H796Y	Benign	0	1	114	52
MUT:KMT2D:Ile1128Thr	PROT:O14686	KMT2D	I	1128	T	I1128T	Benign	0	1	114	63
MUT:KMT2D:Ile1204Val	PROT:O14686	KMT2D	I	1204	V	I1204V	Likely benign	0	1	114	6
MUT:KMT2D:Ile1279Val	PROT:O14686	KMT2D	I	1279	V	I1279V	Benign	0	1	114	9
MUT:KMT2D:Ile1336Thr	PROT:O14686	KMT2D	I	1336	T	I1336T	Likely benign	0	1	114	1
MUT:KMT2D:Ile1344Thr	PROT:O14686	KMT2D	I	1344	T	I1344T	Benign	0	2	114	9
MUT:KMT2D:Ile1344Val	PROT:O14686	KMT2D	I	1344	V	I1344V	Likely benign	0	2	114	9
MUT:KMT2D:Ile1509Val	PROT:O14686	KMT2D	I	1509	V	I1509V	Benign/Likely benign	0	2	114	162
MUT:KMT2D:Ile1829Val	PROT:O14686	KMT2D	I	1829	V	I1829V	Benign	0	1	114	5
MUT:KMT2D:Ile2026Val	PROT:O14686	KMT2D	I	2026	V	I2026V	Benign/Likely benign	0	2	114	76
MUT:KMT2D:Ile2106Thr	PROT:O14686	KMT2D	I	2106	T	I2106T	Likely benign	0	1	114	49
MUT:KMT2D:Ile3421Thr	PROT:O14686	KMT2D	I	3421	T	I3421T	Benign/Likely benign	0	1	114	12
MUT:KMT2D:Ile358Met	PROT:O14686	KMT2D	I	358	M	I358M	Benign	0	1	114	8
MUT:KMT2D:Ile4190Phe	PROT:O14686	KMT2D	I	4190	F	I4190F	Likely benign	0	1	114	25
MUT:KMT2D:Ile4440Thr	PROT:O14686	KMT2D	I	4440	T	I4440T	Benign	0	1	114	10
MUT:KMT2D:Ile4440Val	PROT:O14686	KMT2D	I	4440	V	I4440V	Likely benign	0	1	114	10
MUT:KMT2D:Ile4714Phe	PROT:O14686	KMT2D	I	4714	F	I4714F	Likely benign	0	1	114	13
MUT:KMT2D:Ile5168Val	PROT:O14686	KMT2D	I	5168	V	I5168V	Likely benign	0	1	114	108
MUT:KMT2D:Ile5188Val	PROT:O14686	KMT2D	I	5188	V	I5188V	Benign	0	1	114	88
MUT:KMT2D:Ile5267Val	PROT:O14686	KMT2D	I	5267	V	I5267V	Likely benign	0	1	114	9
MUT:KMT2D:Ile982Val	PROT:O14686	KMT2D	I	982	V	I982V	Benign	0	1	114	83
MUT:KMT2D:Leu1094Phe	PROT:O14686	KMT2D	L	1094	F	L1094F	Benign/Likely benign	0	1	114	29
MUT:KMT2D:Leu1618Pro	PROT:O14686	KMT2D	L	1618	P	L1618P	Benign	0	2	114	53
MUT:KMT2D:Leu1635Phe	PROT:O14686	KMT2D	L	1635	F	L1635F	Benign	0	2	114	36
MUT:KMT2D:Leu1635Val	PROT:O14686	KMT2D	L	1635	V	L1635V	Benign	0	1	114	36
MUT:KMT2D:Leu1871Phe	PROT:O14686	KMT2D	L	1871	F	L1871F	Benign	0	1	114	13
MUT:KMT2D:Leu2185Pro	PROT:O14686	KMT2D	L	2185	P	L2185P	Benign	0	1	114	30
MUT:KMT2D:Leu2484Pro	PROT:O14686	KMT2D	L	2484	P	L2484P	Likely benign	0	1	114	28
MUT:KMT2D:Leu2572Phe	PROT:O14686	KMT2D	L	2572	F	L2572F	Likely benign	0	1	114	60
MUT:KMT2D:Leu2845Phe	PROT:O14686	KMT2D	L	2845	F	L2845F	Benign	0	1	114	103
MUT:KMT2D:Leu2981Val	PROT:O14686	KMT2D	L	2981	V	L2981V	Likely benign	0	1	114	12
MUT:KMT2D:Leu3049Val	PROT:O14686	KMT2D	L	3049	V	L3049V	Likely pathogenic	1	1	114	30
MUT:KMT2D:Leu3115Phe	PROT:O14686	KMT2D	L	3115	F	L3115F	Benign/Likely benign	0	2	114	4
MUT:KMT2D:Leu3209Val	PROT:O14686	KMT2D	L	3209	V	L3209V	Benign	0	1	114	7
MUT:KMT2D:Leu3457Val	PROT:O14686	KMT2D	L	3457	V	L3457V	Likely benign	0	1	114	6
MUT:KMT2D:Leu345Val	PROT:O14686	KMT2D	L	345	V	L345V	Benign/Likely benign	0	1	114	21
MUT:KMT2D:Leu3525Pro	PROT:O14686	KMT2D	L	3525	P	L3525P	Likely pathogenic	1	2	114	62
MUT:KMT2D:Leu3528Val	PROT:O14686	KMT2D	L	3528	V	L3528V	Pathogenic	1	1	114	65
MUT:KMT2D:Leu3542Pro	PROT:O14686	KMT2D	L	3542	P	L3542P	Pathogenic	1	1	114	78
MUT:KMT2D:Leu3564Phe	PROT:O14686	KMT2D	L	3564	F	L3564F	Likely pathogenic	1	1	114	56
MUT:KMT2D:Leu3564Val	PROT:O14686	KMT2D	L	3564	V	L3564V	Likely pathogenic	1	1	114	56
MUT:KMT2D:Leu3566Arg	PROT:O14686	KMT2D	L	3566	R	L3566R	Benign	0	1	114	54
MUT:KMT2D:Leu3721Val	PROT:O14686	KMT2D	L	3721	V	L3721V	Benign	0	1	114	97
MUT:KMT2D:Leu3931Phe	PROT:O14686	KMT2D	L	3931	F	L3931F	Likely benign	0	2	114	73
MUT:KMT2D:Leu3984Ser	PROT:O14686	KMT2D	L	3984	S	L3984S	Benign	0	1	114	20
MUT:KMT2D:Leu3997Phe	PROT:O14686	KMT2D	L	3997	F	L3997F	Benign	0	1	114	7
MUT:KMT2D:Leu4006Arg	PROT:O14686	KMT2D	L	4006	R	L4006R	Benign	0	1	114	2
MUT:KMT2D:Leu4069Phe	PROT:O14686	KMT2D	L	4069	F	L4069F	Benign	0	1	114	58
MUT:KMT2D:Leu4069Pro	PROT:O14686	KMT2D	L	4069	P	L4069P	Likely benign	0	1	114	58
MUT:KMT2D:Leu4141Ser	PROT:O14686	KMT2D	L	4141	S	L4141S	Benign	0	1	114	74
MUT:KMT2D:Leu426Pro	PROT:O14686	KMT2D	L	426	P	L426P	Benign	0	1	114	42
MUT:KMT2D:Leu4274Arg	PROT:O14686	KMT2D	L	4274	R	L4274R	Likely benign	0	1	114	59
MUT:KMT2D:Leu4495Val	PROT:O14686	KMT2D	L	4495	V	L4495V	Likely benign	0	1	114	6
MUT:KMT2D:Leu4551Met	PROT:O14686	KMT2D	L	4551	M	L4551M	Likely benign	0	1	114	2
MUT:KMT2D:Leu4575Phe	PROT:O14686	KMT2D	L	4575	F	L4575F	Benign	0	1	114	22
MUT:KMT2D:Leu4761Phe	PROT:O14686	KMT2D	L	4761	F	L4761F	Likely benign	0	1	114	5
MUT:KMT2D:Leu4763Pro	PROT:O14686	KMT2D	L	4763	P	L4763P	Likely benign	0	1	114	7
MUT:KMT2D:Leu479Pro	PROT:O14686	KMT2D	L	479	P	L479P	Likely benign	0	1	114	2
MUT:KMT2D:Leu4879Arg	PROT:O14686	KMT2D	L	4879	R	L4879R	Likely benign	0	1	114	4
MUT:KMT2D:Leu4979Phe	PROT:O14686	KMT2D	L	4979	F	L4979F	Likely benign	0	1	114	5
MUT:KMT2D:Leu4992Met	PROT:O14686	KMT2D	L	4992	M	L4992M	Benign	0	2	114	18
MUT:KMT2D:Leu5016Pro	PROT:O14686	KMT2D	L	5016	P	L5016P	Likely benign	0	1	114	42
MUT:KMT2D:Leu5084Arg	PROT:O14686	KMT2D	L	5084	R	L5084R	Benign	0	1	114	110
MUT:KMT2D:Leu520Phe	PROT:O14686	KMT2D	L	520	F	L520F	Likely benign	0	1	114	43
MUT:KMT2D:Leu5253Arg	PROT:O14686	KMT2D	L	5253	R	L5253R	Likely benign	0	1	114	23
MUT:KMT2D:Leu5293Pro	PROT:O14686	KMT2D	L	5293	P	L5293P	Pathogenic	1	1	114	17
MUT:KMT2D:Leu572Pro	PROT:O14686	KMT2D	L	572	P	L572P	Benign	0	1	114	37
MUT:KMT2D:Leu656Met	PROT:O14686	KMT2D	L	656	M	L656M	Benign	0	2	114	2
MUT:KMT2D:Leu671Ser	PROT:O14686	KMT2D	L	671	S	L671S	Benign	0	1	114	17
MUT:KMT2D:Leu671Thr	PROT:O14686	KMT2D	L	671	T	L671T	Likely benign	0	1	114	17
MUT:KMT2D:Leu715Val	PROT:O14686	KMT2D	L	715	V	L715V	Benign/Likely benign	0	1	114	29
MUT:KMT2D:Leu718Val	PROT:O14686	KMT2D	L	718	V	L718V	Likely benign	0	1	114	26
MUT:KMT2D:Leu725Gln	PROT:O14686	KMT2D	L	725	Q	L725Q	Benign	0	1	114	19
MUT:KMT2D:Leu734Val	PROT:O14686	KMT2D	L	734	V	L734V	Likely benign	0	1	114	10
MUT:KMT2D:Leu797Val	PROT:O14686	KMT2D	L	797	V	L797V	Likely pathogenic	1	1	114	53
MUT:KMT2D:Leu851Val	PROT:O14686	KMT2D	L	851	V	L851V	Benign	0	1	114	107
MUT:KMT2D:Leu855Val	PROT:O14686	KMT2D	L	855	V	L855V	Benign	0	1	114	111
MUT:KMT2D:Leu860Pro	PROT:O14686	KMT2D	L	860	P	L860P	Benign	0	1	114	116
MUT:KMT2D:Leu954Phe	PROT:O14686	KMT2D	L	954	F	L954F	Benign	0	1	114	111
MUT:KMT2D:Leu954Trp	PROT:O14686	KMT2D	L	954	W	L954W	Likely benign	0	1	114	111
MUT:KMT2D:Lys1060Asn	PROT:O14686	KMT2D	K	1060	N	K1060N	Benign	0	2	114	5
MUT:KMT2D:Lys1711Arg	PROT:O14686	KMT2D	K	1711	R	K1711R	Likely benign	0	1	114	11
MUT:KMT2D:Lys1712Arg	PROT:O14686	KMT2D	K	1712	R	K1712R	Benign	0	1	114	10
MUT:KMT2D:Lys2548Glu	PROT:O14686	KMT2D	K	2548	E	K2548E	Benign/Likely benign	0	1	114	36
MUT:KMT2D:Lys2644Asn	PROT:O14686	KMT2D	K	2644	N	K2644N	Benign	0	1	114	82
MUT:KMT2D:Lys2745Asn	PROT:O14686	KMT2D	K	2745	N	K2745N	Benign	0	1	114	3
MUT:KMT2D:Lys3140Glu	PROT:O14686	KMT2D	K	3140	E	K3140E	Likely benign	0	1	114	10
MUT:KMT2D:Lys3263Gln	PROT:O14686	KMT2D	K	3263	Q	K3263Q	Benign/Likely benign	0	2	114	34
MUT:KMT2D:Lys3414Arg	PROT:O14686	KMT2D	K	3414	R	K3414R	Benign	0	2	114	19
MUT:KMT2D:Lys3436Arg	PROT:O14686	KMT2D	K	3436	R	K3436R	Benign	0	1	114	3
MUT:KMT2D:Lys4416Arg	PROT:O14686	KMT2D	K	4416	R	K4416R	Benign	0	1	114	0
MUT:KMT2D:Lys4494Thr	PROT:O14686	KMT2D	K	4494	T	K4494T	Benign	0	1	114	7
MUT:KMT2D:Lys4537Arg	PROT:O14686	KMT2D	K	4537	R	K4537R	Benign	0	1	114	16
MUT:KMT2D:Lys4541Arg	PROT:O14686	KMT2D	K	4541	R	K4541R	Pathogenic/Likely pathogenic	1	1	114	12
MUT:KMT2D:Lys4556Asn	PROT:O14686	KMT2D	K	4556	N	K4556N	Benign	0	1	114	3
MUT:KMT2D:Lys4756Gln	PROT:O14686	KMT2D	K	4756	Q	K4756Q	Likely benign	0	1	114	0
MUT:KMT2D:Lys4832Asn	PROT:O14686	KMT2D	K	4832	N	K4832N	Likely benign	0	2	114	10
MUT:KMT2D:Lys4848Arg	PROT:O14686	KMT2D	K	4848	R	K4848R	Benign	0	1	114	1
MUT:KMT2D:Lys5091Arg	PROT:O14686	KMT2D	K	5091	R	K5091R	Benign	0	1	114	117
MUT:KMT2D:Met1017Val	PROT:O14686	KMT2D	M	1017	V	M1017V	Benign	0	1	114	48
MUT:KMT2D:Met1098Ile	PROT:O14686	KMT2D	M	1098	I	M1098I	Benign/Likely benign	0	2	114	33
MUT:KMT2D:Met1098Val	PROT:O14686	KMT2D	M	1098	V	M1098V	Benign	0	1	114	33
MUT:KMT2D:Met1240Val	PROT:O14686	KMT2D	M	1240	V	M1240V	Benign	0	1	114	9
MUT:KMT2D:Met1575Val	PROT:O14686	KMT2D	M	1575	V	M1575V	Benign	0	1	114	96
MUT:KMT2D:Met1767Val	PROT:O14686	KMT2D	M	1767	V	M1767V	Benign	0	1	114	5
MUT:KMT2D:Met1886Ile	PROT:O14686	KMT2D	M	1886	I	M1886I	Benign	0	1	114	10
MUT:KMT2D:Met2046Val	PROT:O14686	KMT2D	M	2046	V	M2046V	Likely benign	0	1	114	96
MUT:KMT2D:Met2534Val	PROT:O14686	KMT2D	M	2534	V	M2534V	Likely benign	0	1	114	22
MUT:KMT2D:Met2652Leu	PROT:O14686	KMT2D	M	2652	L	M2652L	Benign/Likely benign	0	3	114	74
MUT:KMT2D:Met2652Val	PROT:O14686	KMT2D	M	2652	V	M2652V	Benign	0	1	114	74
MUT:KMT2D:Met2669Val	PROT:O14686	KMT2D	M	2669	V	M2669V	Likely benign	0	1	114	57
MUT:KMT2D:Met2784Val	PROT:O14686	KMT2D	M	2784	V	M2784V	Benign	0	1	114	42
MUT:KMT2D:Met3295Val	PROT:O14686	KMT2D	M	3295	V	M3295V	Likely benign	0	1	114	66
MUT:KMT2D:Met3347Val	PROT:O14686	KMT2D	M	3347	V	M3347V	Benign	0	1	114	86
MUT:KMT2D:Met3349Val	PROT:O14686	KMT2D	M	3349	V	M3349V	Benign	0	1	114	84
MUT:KMT2D:Met3382Arg	PROT:O14686	KMT2D	M	3382	R	M3382R	Benign	0	1	114	51
MUT:KMT2D:Met3382Thr	PROT:O14686	KMT2D	M	3382	T	M3382T	Benign	0	2	114	51
MUT:KMT2D:Met3385Val	PROT:O14686	KMT2D	M	3385	V	M3385V	Likely benign	0	1	114	48
MUT:KMT2D:Met3398Val	PROT:O14686	KMT2D	M	3398	V	M3398V	Benign/Likely benign	0	2	114	35
MUT:KMT2D:Met3592Val	PROT:O14686	KMT2D	M	3592	V	M3592V	Benign	0	1	114	28
MUT:KMT2D:Met3777Ile	PROT:O14686	KMT2D	M	3777	I	M3777I	Benign	0	1	114	60
MUT:KMT2D:Met3777Leu	PROT:O14686	KMT2D	M	3777	L	M3777L	Benign	0	1	114	60
MUT:KMT2D:Met3848Thr	PROT:O14686	KMT2D	M	3848	T	M3848T	Benign	0	1	114	11
MUT:KMT2D:Met3870Ile	PROT:O14686	KMT2D	M	3870	I	M3870I	Benign	0	2	114	33
MUT:KMT2D:Met3894Val	PROT:O14686	KMT2D	M	3894	V	M3894V	Benign	0	1	114	57
MUT:KMT2D:Met404Val	PROT:O14686	KMT2D	M	404	V	M404V	Benign	0	1	114	24
MUT:KMT2D:Met4638Leu	PROT:O14686	KMT2D	M	4638	L	M4638L	Benign	0	1	114	5
MUT:KMT2D:Met4785Thr	PROT:O14686	KMT2D	M	4785	T	M4785T	Likely benign	0	1	114	2
MUT:KMT2D:Met4809Leu	PROT:O14686	KMT2D	M	4809	L	M4809L	Benign	0	1	114	13
MUT:KMT2D:Met5029Leu	PROT:O14686	KMT2D	M	5029	L	M5029L	Benign	0	1	114	55
MUT:KMT2D:Met5029Thr	PROT:O14686	KMT2D	M	5029	T	M5029T	Benign	0	1	114	55
MUT:KMT2D:Met5135Thr	PROT:O14686	KMT2D	M	5135	T	M5135T	Benign	0	1	114	141
MUT:KMT2D:Met581Val	PROT:O14686	KMT2D	M	581	V	M581V	Benign	0	1	114	28
MUT:KMT2D:Met590Val	PROT:O14686	KMT2D	M	590	V	M590V	Likely benign	0	2	114	19
MUT:KMT2D:Met635Val	PROT:O14686	KMT2D	M	635	V	M635V	Likely benign	0	2	114	17
MUT:KMT2D:Met716Thr	PROT:O14686	KMT2D	M	716	T	M716T	Benign	0	1	114	28
MUT:KMT2D:Met999Val	PROT:O14686	KMT2D	M	999	V	M999V	Benign	0	1	114	66
MUT:KMT2D:Phe165Val	PROT:O14686	KMT2D	F	165	V	F165V	Likely benign	0	1	114	63
MUT:KMT2D:Phe2142Ser	PROT:O14686	KMT2D	F	2142	S	F2142S	Benign	0	1	114	13
MUT:KMT2D:Phe2189Leu	PROT:O14686	KMT2D	F	2189	L	F2189L	Benign	0	1	114	34
MUT:KMT2D:Phe2369Leu	PROT:O14686	KMT2D	F	2369	L	F2369L	Likely benign	0	1	114	27
MUT:KMT2D:Phe2479Ser	PROT:O14686	KMT2D	F	2479	S	F2479S	Benign	0	1	114	33
MUT:KMT2D:Phe2536Ser	PROT:O14686	KMT2D	F	2536	S	F2536S	Benign/Likely benign	0	2	114	24
MUT:KMT2D:Phe2566Leu	PROT:O14686	KMT2D	F	2566	L	F2566L	Benign/Likely benign	0	1	114	54
MUT:KMT2D:Phe2837Ser	PROT:O14686	KMT2D	F	2837	S	F2837S	Benign/Likely benign	0	1	114	95
MUT:KMT2D:Phe3185Tyr	PROT:O14686	KMT2D	F	3185	Y	F3185Y	Likely benign	0	1	114	6
MUT:KMT2D:Phe3699Val	PROT:O14686	KMT2D	F	3699	V	F3699V	Benign	0	1	114	75
MUT:KMT2D:Phe372Tyr	PROT:O14686	KMT2D	F	372	Y	F372Y	Benign/Likely benign	0	1	114	1
MUT:KMT2D:Phe4860Leu	PROT:O14686	KMT2D	F	4860	L	F4860L	Benign	0	1	114	8
MUT:KMT2D:Phe5241Leu	PROT:O14686	KMT2D	F	5241	L	F5241L	Likely pathogenic	1	1	114	35
MUT:KMT2D:Phe549Ser	PROT:O14686	KMT2D	F	549	S	F549S	Benign	0	1	114	60
MUT:KMT2D:Pro1011Leu	PROT:O14686	KMT2D	P	1011	L	P1011L	Benign	0	1	114	54
MUT:KMT2D:Pro1014Ser	PROT:O14686	KMT2D	P	1014	S	P1014S	Benign	0	1	114	51
MUT:KMT2D:Pro1021Ser	PROT:O14686	KMT2D	P	1021	S	P1021S	Likely benign	0	2	114	44
MUT:KMT2D:Pro1039Ser	PROT:O14686	KMT2D	P	1039	S	P1039S	Benign	0	1	114	26
MUT:KMT2D:Pro1045Leu	PROT:O14686	KMT2D	P	1045	L	P1045L	Benign/Likely benign	0	1	114	20
MUT:KMT2D:Pro1054Leu	PROT:O14686	KMT2D	P	1054	L	P1054L	Benign/Likely benign	0	1	114	11
MUT:KMT2D:Pro1057Ser	PROT:O14686	KMT2D	P	1057	S	P1057S	Likely benign	0	1	114	8
MUT:KMT2D:Pro1097Leu	PROT:O14686	KMT2D	P	1097	L	P1097L	Likely benign	0	1	114	32
MUT:KMT2D:Pro111Leu	PROT:O14686	KMT2D	P	111	L	P111L	Likely benign	0	1	114	9
MUT:KMT2D:Pro1131Arg	PROT:O14686	KMT2D	P	1131	R	P1131R	Benign	0	1	114	64
MUT:KMT2D:Pro1137Arg	PROT:O14686	KMT2D	P	1137	R	P1137R	Benign	0	1	114	58
MUT:KMT2D:Pro1162Leu	PROT:O14686	KMT2D	P	1162	L	P1162L	Likely benign	0	1	114	33
MUT:KMT2D:Pro1165Ser	PROT:O14686	KMT2D	P	1165	S	P1165S	Likely benign	0	1	114	30
MUT:KMT2D:Pro1181Ser	PROT:O14686	KMT2D	P	1181	S	P1181S	Likely benign	0	1	114	14
MUT:KMT2D:Pro1188Leu	PROT:O14686	KMT2D	P	1188	L	P1188L	Likely benign	0	1	114	7
MUT:KMT2D:Pro1191Leu	PROT:O14686	KMT2D	P	1191	L	P1191L	Benign/Likely benign	0	3	114	4
MUT:KMT2D:Pro1230Ser	PROT:O14686	KMT2D	P	1230	S	P1230S	Likely benign	0	1	114	19
MUT:KMT2D:Pro1295Ser	PROT:O14686	KMT2D	P	1295	S	P1295S	Likely benign	0	1	114	1
MUT:KMT2D:Pro1566Leu	PROT:O14686	KMT2D	P	1566	L	P1566L	Likely benign	0	1	114	105
MUT:KMT2D:Pro15Leu	PROT:O14686	KMT2D	P	15	L	P15L	Likely benign	0	1	114	12
MUT:KMT2D:Pro1676Ala	PROT:O14686	KMT2D	P	1676	A	P1676A	Benign	0	2	114	5
MUT:KMT2D:Pro1732Thr	PROT:O14686	KMT2D	P	1732	T	P1732T	Likely benign	0	1	114	10
MUT:KMT2D:Pro1797Ala	PROT:O14686	KMT2D	P	1797	A	P1797A	Likely benign	0	1	114	35
MUT:KMT2D:Pro1804Leu	PROT:O14686	KMT2D	P	1804	L	P1804L	Likely benign	0	1	114	30
MUT:KMT2D:Pro1857Ser	PROT:O14686	KMT2D	P	1857	S	P1857S	Likely benign	0	1	114	1
MUT:KMT2D:Pro1863Ser	PROT:O14686	KMT2D	P	1863	S	P1863S	Likely benign	0	1	114	5
MUT:KMT2D:Pro187Ala	PROT:O14686	KMT2D	P	187	A	P187A	Likely benign	0	1	114	85
MUT:KMT2D:Pro1964Leu	PROT:O14686	KMT2D	P	1964	L	P1964L	Likely benign	0	1	114	14
MUT:KMT2D:Pro20Leu	PROT:O14686	KMT2D	P	20	L	P20L	Benign	0	1	114	7
MUT:KMT2D:Pro2100Leu	PROT:O14686	KMT2D	P	2100	L	P2100L	Likely benign	0	1	114	55
MUT:KMT2D:Pro2107His	PROT:O14686	KMT2D	P	2107	H	P2107H	Benign	0	1	114	48
MUT:KMT2D:Pro2107Thr	PROT:O14686	KMT2D	P	2107	T	P2107T	Benign/Likely benign	0	2	114	48
MUT:KMT2D:Pro2108Leu	PROT:O14686	KMT2D	P	2108	L	P2108L	Benign/Likely benign	0	1	114	47
MUT:KMT2D:Pro2116Leu	PROT:O14686	KMT2D	P	2116	L	P2116L	Benign	0	1	114	39
MUT:KMT2D:Pro2117Ser	PROT:O14686	KMT2D	P	2117	S	P2117S	Likely benign	0	1	114	38
MUT:KMT2D:Pro2129Leu	PROT:O14686	KMT2D	P	2129	L	P2129L	Benign	0	1	114	26
MUT:KMT2D:Pro2146Leu	PROT:O14686	KMT2D	P	2146	L	P2146L	Likely benign	0	3	114	9
MUT:KMT2D:Pro2165Leu	PROT:O14686	KMT2D	P	2165	L	P2165L	Benign	0	1	114	10
MUT:KMT2D:Pro2181Ala	PROT:O14686	KMT2D	P	2181	A	P2181A	Likely benign	0	1	114	26
MUT:KMT2D:Pro2181Leu	PROT:O14686	KMT2D	P	2181	L	P2181L	Benign	0	1	114	26
MUT:KMT2D:Pro2193Leu	PROT:O14686	KMT2D	P	2193	L	P2193L	Benign/Likely benign	0	1	114	35
MUT:KMT2D:Pro2198His	PROT:O14686	KMT2D	P	2198	H	P2198H	Likely benign	0	1	114	30
MUT:KMT2D:Pro2209Ser	PROT:O14686	KMT2D	P	2209	S	P2209S	Likely benign	0	1	114	19
MUT:KMT2D:Pro2210Leu	PROT:O14686	KMT2D	P	2210	L	P2210L	Benign/Likely benign	0	2	114	18
MUT:KMT2D:Pro2258Ser	PROT:O14686	KMT2D	P	2258	S	P2258S	Likely benign	0	1	114	2
MUT:KMT2D:Pro2271Ser	PROT:O14686	KMT2D	P	2271	S	P2271S	Benign/Likely benign	0	3	114	3
MUT:KMT2D:Pro2276Ser	PROT:O14686	KMT2D	P	2276	S	P2276S	Benign/Likely benign	0	1	114	2
MUT:KMT2D:Pro2301Ser	PROT:O14686	KMT2D	P	2301	S	P2301S	Likely benign	0	2	114	2
MUT:KMT2D:Pro2302Arg	PROT:O14686	KMT2D	P	2302	R	P2302R	Likely benign	0	1	114	3
MUT:KMT2D:Pro2302Ser	PROT:O14686	KMT2D	P	2302	S	P2302S	Benign	0	1	114	3
MUT:KMT2D:Pro2330Ser	PROT:O14686	KMT2D	P	2330	S	P2330S	Benign	0	1	114	2
MUT:KMT2D:Pro2343Leu	PROT:O14686	KMT2D	P	2343	L	P2343L	Benign	0	1	114	1
MUT:KMT2D:Pro2343Thr	PROT:O14686	KMT2D	P	2343	T	P2343T	Benign	0	1	114	1
MUT:KMT2D:Pro2349Ser	PROT:O14686	KMT2D	P	2349	S	P2349S	Benign	0	2	114	7
MUT:KMT2D:Pro2352Thr	PROT:O14686	KMT2D	P	2352	T	P2352T	Benign	0	1	114	10
MUT:KMT2D:Pro2353Leu	PROT:O14686	KMT2D	P	2353	L	P2353L	Likely benign	0	1	114	11
MUT:KMT2D:Pro2354Leu	PROT:O14686	KMT2D	P	2354	L	P2354L	Benign	0	1	114	12
MUT:KMT2D:Pro2354Ser	PROT:O14686	KMT2D	P	2354	S	P2354S	Benign/Likely benign	0	2	114	12
MUT:KMT2D:Pro2371Leu	PROT:O14686	KMT2D	P	2371	L	P2371L	Benign	0	1	114	29
MUT:KMT2D:Pro2377Ser	PROT:O14686	KMT2D	P	2377	S	P2377S	Benign/Likely benign	0	1	114	35
MUT:KMT2D:Pro2382Ser	PROT:O14686	KMT2D	P	2382	S	P2382S	Benign	0	1	114	40
MUT:KMT2D:Pro2387Leu	PROT:O14686	KMT2D	P	2387	L	P2387L	Benign	0	1	114	45
MUT:KMT2D:Pro2390Leu	PROT:O14686	KMT2D	P	2390	L	P2390L	Likely benign	0	1	114	48
MUT:KMT2D:Pro2392Ser	PROT:O14686	KMT2D	P	2392	S	P2392S	Benign/Likely benign	0	1	114	50
MUT:KMT2D:Pro2399Leu	PROT:O14686	KMT2D	P	2399	L	P2399L	Likely benign	0	1	114	57
MUT:KMT2D:Pro2400Ser	PROT:O14686	KMT2D	P	2400	S	P2400S	Benign	0	1	114	58
MUT:KMT2D:Pro2407Thr	PROT:O14686	KMT2D	P	2407	T	P2407T	Likely benign	0	1	114	65
MUT:KMT2D:Pro2470Thr	PROT:O14686	KMT2D	P	2470	T	P2470T	Benign	0	1	114	42
MUT:KMT2D:Pro2474Leu	PROT:O14686	KMT2D	P	2474	L	P2474L	Likely benign	0	1	114	38
MUT:KMT2D:Pro2499Thr	PROT:O14686	KMT2D	P	2499	T	P2499T	Likely benign	0	1	114	13
MUT:KMT2D:Pro2515Ser	PROT:O14686	KMT2D	P	2515	S	P2515S	Benign	0	1	114	3
MUT:KMT2D:Pro2531Ser	PROT:O14686	KMT2D	P	2531	S	P2531S	Benign	0	2	114	19
MUT:KMT2D:Pro2549Ser	PROT:O14686	KMT2D	P	2549	S	P2549S	Benign	0	1	114	37
MUT:KMT2D:Pro2550Thr	PROT:O14686	KMT2D	P	2550	T	P2550T	Benign	0	1	114	38
MUT:KMT2D:Pro2557Leu	PROT:O14686	KMT2D	P	2557	L	P2557L	Benign	0	1	114	45
MUT:KMT2D:Pro2559Arg	PROT:O14686	KMT2D	P	2559	R	P2559R	Benign	0	1	114	47
MUT:KMT2D:Pro2568Leu	PROT:O14686	KMT2D	P	2568	L	P2568L	Likely benign	0	1	114	56
MUT:KMT2D:Pro2589Leu	PROT:O14686	KMT2D	P	2589	L	P2589L	Likely benign	0	1	114	77
MUT:KMT2D:Pro2589Ser	PROT:O14686	KMT2D	P	2589	S	P2589S	Benign	0	1	114	77
MUT:KMT2D:Pro2613Leu	PROT:O14686	KMT2D	P	2613	L	P2613L	Benign/Likely benign	0	1	114	101
MUT:KMT2D:Pro2618Ser	PROT:O14686	KMT2D	P	2618	S	P2618S	Benign	0	1	114	106
MUT:KMT2D:Pro2717Ser	PROT:O14686	KMT2D	P	2717	S	P2717S	Benign/Likely benign	0	3	114	9
MUT:KMT2D:Pro271Arg	PROT:O14686	KMT2D	P	271	R	P271R	Likely benign	0	1	114	95
MUT:KMT2D:Pro2763Ala	PROT:O14686	KMT2D	P	2763	A	P2763A	Benign	0	1	114	21
MUT:KMT2D:Pro2775Ser	PROT:O14686	KMT2D	P	2775	S	P2775S	Likely benign	0	1	114	33
MUT:KMT2D:Pro2778Ser	PROT:O14686	KMT2D	P	2778	S	P2778S	Likely benign	0	1	114	36
MUT:KMT2D:Pro2781Leu	PROT:O14686	KMT2D	P	2781	L	P2781L	Likely benign	0	1	114	39
MUT:KMT2D:Pro282Arg	PROT:O14686	KMT2D	P	282	R	P282R	Benign	0	1	114	84
MUT:KMT2D:Pro2853Leu	PROT:O14686	KMT2D	P	2853	L	P2853L	Benign	0	1	114	96
MUT:KMT2D:Pro2890Leu	PROT:O14686	KMT2D	P	2890	L	P2890L	Likely benign	0	1	114	59
MUT:KMT2D:Pro2894Leu	PROT:O14686	KMT2D	P	2894	L	P2894L	Benign	0	1	114	55
MUT:KMT2D:Pro2901Leu	PROT:O14686	KMT2D	P	2901	L	P2901L	Likely benign	0	1	114	48
MUT:KMT2D:Pro2938Leu	PROT:O14686	KMT2D	P	2938	L	P2938L	Benign	0	2	114	11
MUT:KMT2D:Pro2940Thr	PROT:O14686	KMT2D	P	2940	T	P2940T	Benign	0	1	114	9
MUT:KMT2D:Pro2967Ser	PROT:O14686	KMT2D	P	2967	S	P2967S	Likely benign	0	1	114	2
MUT:KMT2D:Pro2968Leu	PROT:O14686	KMT2D	P	2968	L	P2968L	Benign	0	1	114	1
MUT:KMT2D:Pro3109His	PROT:O14686	KMT2D	P	3109	H	P3109H	Benign	0	1	114	10
MUT:KMT2D:Pro3172Ser	PROT:O14686	KMT2D	P	3172	S	P3172S	Benign	0	1	114	7
MUT:KMT2D:Pro3387Arg	PROT:O14686	KMT2D	P	3387	R	P3387R	Benign	0	1	114	46
MUT:KMT2D:Pro3448Thr	PROT:O14686	KMT2D	P	3448	T	P3448T	Benign	0	1	114	5
MUT:KMT2D:Pro3490Leu	PROT:O14686	KMT2D	P	3490	L	P3490L	Benign/Likely benign	0	2	114	27
MUT:KMT2D:Pro3637Thr	PROT:O14686	KMT2D	P	3637	T	P3637T	Benign	0	2	114	13
MUT:KMT2D:Pro3648Ala	PROT:O14686	KMT2D	P	3648	A	P3648A	Likely benign	0	1	114	24
MUT:KMT2D:Pro3648Leu	PROT:O14686	KMT2D	P	3648	L	P3648L	Benign	0	1	114	24
MUT:KMT2D:Pro3648Ser	PROT:O14686	KMT2D	P	3648	S	P3648S	Benign/Likely benign	0	1	114	24
MUT:KMT2D:Pro3668His	PROT:O14686	KMT2D	P	3668	H	P3668H	Likely benign	0	1	114	44
MUT:KMT2D:Pro3671Ala	PROT:O14686	KMT2D	P	3671	A	P3671A	Benign/Likely benign	0	1	114	47
MUT:KMT2D:Pro3695Ser	PROT:O14686	KMT2D	P	3695	S	P3695S	Likely benign	0	2	114	71
MUT:KMT2D:Pro36Leu	PROT:O14686	KMT2D	P	36	L	P36L	Benign	0	1	114	5
MUT:KMT2D:Pro36Ser	PROT:O14686	KMT2D	P	36	S	P36S	Benign/Likely benign	0	1	114	5
MUT:KMT2D:Pro3711Arg	PROT:O14686	KMT2D	P	3711	R	P3711R	Likely benign	0	2	114	87
MUT:KMT2D:Pro3711His	PROT:O14686	KMT2D	P	3711	H	P3711H	Benign	0	1	114	87
MUT:KMT2D:Pro374Thr	PROT:O14686	KMT2D	P	374	T	P374T	Benign/Likely benign	0	3	114	1
MUT:KMT2D:Pro3794Ser	PROT:O14686	KMT2D	P	3794	S	P3794S	Benign/Likely benign	0	1	114	43
MUT:KMT2D:Pro385Ser	PROT:O14686	KMT2D	P	385	S	P385S	Benign	0	1	114	5
MUT:KMT2D:Pro3887Ser	PROT:O14686	KMT2D	P	3887	S	P3887S	Likely benign	0	1	114	50
MUT:KMT2D:Pro4048Leu	PROT:O14686	KMT2D	P	4048	L	P4048L	Benign	0	1	114	37
MUT:KMT2D:Pro406Arg	PROT:O14686	KMT2D	P	406	R	P406R	Likely benign	0	1	114	26
MUT:KMT2D:Pro4082Arg	PROT:O14686	KMT2D	P	4082	R	P4082R	Benign	0	1	114	71
MUT:KMT2D:Pro4098Ser	PROT:O14686	KMT2D	P	4098	S	P4098S	Benign	0	1	114	87
MUT:KMT2D:Pro409Leu	PROT:O14686	KMT2D	P	409	L	P409L	Benign	0	2	114	29
MUT:KMT2D:Pro4170Leu	PROT:O14686	KMT2D	P	4170	L	P4170L	Benign/Likely benign	0	1	114	45
MUT:KMT2D:Pro4170Thr	PROT:O14686	KMT2D	P	4170	T	P4170T	Benign	0	1	114	45
MUT:KMT2D:Pro4175Ala	PROT:O14686	KMT2D	P	4175	A	P4175A	Benign	0	1	114	40
MUT:KMT2D:Pro4175Gln	PROT:O14686	KMT2D	P	4175	Q	P4175Q	Benign/Likely benign	0	2	114	40
MUT:KMT2D:Pro4175Leu	PROT:O14686	KMT2D	P	4175	L	P4175L	Benign	0	1	114	40
MUT:KMT2D:Pro4186Leu	PROT:O14686	KMT2D	P	4186	L	P4186L	Likely benign	0	1	114	29
MUT:KMT2D:Pro4209Leu	PROT:O14686	KMT2D	P	4209	L	P4209L	Benign	0	2	114	6
MUT:KMT2D:Pro4242Leu	PROT:O14686	KMT2D	P	4242	L	P4242L	Benign	0	1	114	27
MUT:KMT2D:Pro4273Thr	PROT:O14686	KMT2D	P	4273	T	P4273T	Benign	0	1	114	58
MUT:KMT2D:Pro4283Leu	PROT:O14686	KMT2D	P	4283	L	P4283L	Likely benign	0	1	114	68
MUT:KMT2D:Pro4287Ser	PROT:O14686	KMT2D	P	4287	S	P4287S	Benign	0	2	114	72
MUT:KMT2D:Pro4287Thr	PROT:O14686	KMT2D	P	4287	T	P4287T	Benign	0	1	114	72
MUT:KMT2D:Pro428Ser	PROT:O14686	KMT2D	P	428	S	P428S	Benign	0	1	114	40
MUT:KMT2D:Pro4304Ser	PROT:O14686	KMT2D	P	4304	S	P4304S	Benign	0	2	114	55
MUT:KMT2D:Pro4307Ser	PROT:O14686	KMT2D	P	4307	S	P4307S	Benign	0	1	114	52
MUT:KMT2D:Pro4310Ser	PROT:O14686	KMT2D	P	4310	S	P4310S	Benign	0	1	114	49
MUT:KMT2D:Pro4314Ser	PROT:O14686	KMT2D	P	4314	S	P4314S	Likely benign	0	1	114	45
MUT:KMT2D:Pro4320Ser	PROT:O14686	KMT2D	P	4320	S	P4320S	Likely benign	0	1	114	39
MUT:KMT2D:Pro433Leu	PROT:O14686	KMT2D	P	433	L	P433L	Benign	0	2	114	35
MUT:KMT2D:Pro4346Ser	PROT:O14686	KMT2D	P	4346	S	P4346S	Benign	0	1	114	13
MUT:KMT2D:Pro4349Ala	PROT:O14686	KMT2D	P	4349	A	P4349A	Benign/Likely benign	0	2	114	10
MUT:KMT2D:Pro4349Thr	PROT:O14686	KMT2D	P	4349	T	P4349T	Benign	0	1	114	10
MUT:KMT2D:Pro4353Leu	PROT:O14686	KMT2D	P	4353	L	P4353L	Benign/Likely benign	0	1	114	6
MUT:KMT2D:Pro4354Ser	PROT:O14686	KMT2D	P	4354	S	P4354S	Benign	0	1	114	5
MUT:KMT2D:Pro4380Leu	PROT:O14686	KMT2D	P	4380	L	P4380L	Benign	0	2	114	21
MUT:KMT2D:Pro4380Thr	PROT:O14686	KMT2D	P	4380	T	P4380T	Likely benign	0	1	114	21
MUT:KMT2D:Pro4408Leu	PROT:O14686	KMT2D	P	4408	L	P4408L	Benign	0	2	114	8
MUT:KMT2D:Pro443Gln	PROT:O14686	KMT2D	P	443	Q	P443Q	Likely benign	0	1	114	25
MUT:KMT2D:Pro4454Arg	PROT:O14686	KMT2D	P	4454	R	P4454R	Likely benign	0	1	114	11
MUT:KMT2D:Pro4506Ser	PROT:O14686	KMT2D	P	4506	S	P4506S	Benign	0	1	114	5
MUT:KMT2D:Pro4517Ala	PROT:O14686	KMT2D	P	4517	A	P4517A	Likely benign	0	2	114	16
MUT:KMT2D:Pro4520Leu	PROT:O14686	KMT2D	P	4520	L	P4520L	Benign/Likely benign	0	1	114	19
MUT:KMT2D:Pro453Leu	PROT:O14686	KMT2D	P	453	L	P453L	Likely benign	0	1	114	15
MUT:KMT2D:Pro457Ser	PROT:O14686	KMT2D	P	457	S	P457S	Benign	0	1	114	11
MUT:KMT2D:Pro4584Leu	PROT:O14686	KMT2D	P	4584	L	P4584L	Likely benign	0	1	114	31
MUT:KMT2D:Pro4644Ala	PROT:O14686	KMT2D	P	4644	A	P4644A	Likely benign	0	1	114	1
MUT:KMT2D:Pro471Leu	PROT:O14686	KMT2D	P	471	L	P471L	Benign	0	1	114	3
MUT:KMT2D:Pro480Thr	PROT:O14686	KMT2D	P	480	T	P480T	Likely benign	0	1	114	3
MUT:KMT2D:Pro4850Arg	PROT:O14686	KMT2D	P	4850	R	P4850R	Benign	0	1	114	1
MUT:KMT2D:Pro4884Leu	PROT:O14686	KMT2D	P	4884	L	P4884L	Benign	0	1	114	1
MUT:KMT2D:Pro4886Ser	PROT:O14686	KMT2D	P	4886	S	P4886S	Likely benign	0	1	114	3
MUT:KMT2D:Pro488Arg	PROT:O14686	KMT2D	P	488	R	P488R	Likely benign	0	1	114	11
MUT:KMT2D:Pro4914Ser	PROT:O14686	KMT2D	P	4914	S	P4914S	Benign	0	1	114	31
MUT:KMT2D:Pro4928Thr	PROT:O14686	KMT2D	P	4928	T	P4928T	Likely benign	0	1	114	27
MUT:KMT2D:Pro4932Leu	PROT:O14686	KMT2D	P	4932	L	P4932L	Likely benign	0	1	114	23
MUT:KMT2D:Pro4937Leu	PROT:O14686	KMT2D	P	4937	L	P4937L	Benign	0	1	114	18
MUT:KMT2D:Pro4967Ser	PROT:O14686	KMT2D	P	4967	S	P4967S	Likely benign	0	1	114	7
MUT:KMT2D:Pro496Leu	PROT:O14686	KMT2D	P	496	L	P496L	Likely benign	0	1	114	19
MUT:KMT2D:Pro4976Ser	PROT:O14686	KMT2D	P	4976	S	P4976S	Benign	0	1	114	2
MUT:KMT2D:Pro49Thr	PROT:O14686	KMT2D	P	49	T	P49T	Benign/Likely benign	0	1	114	4
MUT:KMT2D:Pro506Arg	PROT:O14686	KMT2D	P	506	R	P506R	Benign	0	1	114	29
MUT:KMT2D:Pro506Gln	PROT:O14686	KMT2D	P	506	Q	P506Q	Likely benign	0	2	114	29
MUT:KMT2D:Pro506Leu	PROT:O14686	KMT2D	P	506	L	P506L	Likely benign	0	1	114	29
MUT:KMT2D:Pro506Ser	PROT:O14686	KMT2D	P	506	S	P506S	Benign	0	1	114	29
MUT:KMT2D:Pro511Ser	PROT:O14686	KMT2D	P	511	S	P511S	Benign/Likely benign	0	2	114	34
MUT:KMT2D:Pro514Ser	PROT:O14686	KMT2D	P	514	S	P514S	Benign	0	1	114	37
MUT:KMT2D:Pro519Arg	PROT:O14686	KMT2D	P	519	R	P519R	Likely benign	0	1	114	42
MUT:KMT2D:Pro527Thr	PROT:O14686	KMT2D	P	527	T	P527T	Benign	0	1	114	50
MUT:KMT2D:Pro547Leu	PROT:O14686	KMT2D	P	547	L	P547L	Benign	0	1	114	62
MUT:KMT2D:Pro556Leu	PROT:O14686	KMT2D	P	556	L	P556L	Likely benign	0	1	114	53
MUT:KMT2D:Pro558Ser	PROT:O14686	KMT2D	P	558	S	P558S	Benign	0	1	114	51
MUT:KMT2D:Pro55Ser	PROT:O14686	KMT2D	P	55	S	P55S	Benign	0	1	114	1
MUT:KMT2D:Pro565Leu	PROT:O14686	KMT2D	P	565	L	P565L	Benign	0	1	114	44
MUT:KMT2D:Pro574Leu	PROT:O14686	KMT2D	P	574	L	P574L	Likely benign	0	1	114	35
MUT:KMT2D:Pro607Leu	PROT:O14686	KMT2D	P	607	L	P607L	Benign	0	2	114	2
MUT:KMT2D:Pro616His	PROT:O14686	KMT2D	P	616	H	P616H	Likely benign	0	1	114	2
MUT:KMT2D:Pro616Leu	PROT:O14686	KMT2D	P	616	L	P616L	Likely benign	0	1	114	2
MUT:KMT2D:Pro616Ser	PROT:O14686	KMT2D	P	616	S	P616S	Benign	0	1	114	2
MUT:KMT2D:Pro637Thr	PROT:O14686	KMT2D	P	637	T	P637T	Benign	0	1	114	17
MUT:KMT2D:Pro638Arg	PROT:O14686	KMT2D	P	638	R	P638R	Benign	0	1	114	16
MUT:KMT2D:Pro647Arg	PROT:O14686	KMT2D	P	647	R	P647R	Benign	0	1	114	7
MUT:KMT2D:Pro664Ala	PROT:O14686	KMT2D	P	664	A	P664A	Likely benign	0	1	114	10
MUT:KMT2D:Pro665Leu	PROT:O14686	KMT2D	P	665	L	P665L	Benign/Likely benign	0	1	114	11
MUT:KMT2D:Pro674Leu	PROT:O14686	KMT2D	P	674	L	P674L	Benign/Likely benign	0	1	114	20
MUT:KMT2D:Pro691Ser	PROT:O14686	KMT2D	P	691	S	P691S	Benign	0	1	114	37
MUT:KMT2D:Pro692Arg	PROT:O14686	KMT2D	P	692	R	P692R	Likely benign	0	1	114	38
MUT:KMT2D:Pro692Thr	PROT:O14686	KMT2D	P	692	T	P692T	Benign/Likely benign	0	2	114	38
MUT:KMT2D:Pro702Ser	PROT:O14686	KMT2D	P	702	S	P702S	Benign/Likely benign	0	1	114	42
MUT:KMT2D:Pro709Ser	PROT:O14686	KMT2D	P	709	S	P709S	Benign	0	1	114	35
MUT:KMT2D:Pro710Arg	PROT:O14686	KMT2D	P	710	R	P710R	Likely benign	0	2	114	34
MUT:KMT2D:Pro719Leu	PROT:O14686	KMT2D	P	719	L	P719L	Benign/Likely benign	0	2	114	25
MUT:KMT2D:Pro732Leu	PROT:O14686	KMT2D	P	732	L	P732L	Benign	0	1	114	12
MUT:KMT2D:Pro736Ser	PROT:O14686	KMT2D	P	736	S	P736S	Benign/Likely benign	0	1	114	8
MUT:KMT2D:Pro750Leu	PROT:O14686	KMT2D	P	750	L	P750L	Benign	0	1	114	6
MUT:KMT2D:Pro763Ala	PROT:O14686	KMT2D	P	763	A	P763A	Likely benign	0	1	114	19
MUT:KMT2D:Pro763Leu	PROT:O14686	KMT2D	P	763	L	P763L	Benign/Likely benign	0	2	114	19
MUT:KMT2D:Pro786Ala	PROT:O14686	KMT2D	P	786	A	P786A	Benign	0	1	114	42
MUT:KMT2D:Pro795Arg	PROT:O14686	KMT2D	P	795	R	P795R	Benign	0	1	114	51
MUT:KMT2D:Pro813Leu	PROT:O14686	KMT2D	P	813	L	P813L	Benign	0	1	114	69
MUT:KMT2D:Pro819Thr	PROT:O14686	KMT2D	P	819	T	P819T	Benign	0	1	114	75
MUT:KMT2D:Pro826His	PROT:O14686	KMT2D	P	826	H	P826H	Benign/Likely benign	0	2	114	82
MUT:KMT2D:Pro862His	PROT:O14686	KMT2D	P	862	H	P862H	Benign	0	1	114	118
MUT:KMT2D:Pro885Leu	PROT:O14686	KMT2D	P	885	L	P885L	Benign	0	1	114	141
MUT:KMT2D:Pro886Thr	PROT:O14686	KMT2D	P	886	T	P886T	Benign	0	1	114	142
MUT:KMT2D:Pro919Ala	PROT:O14686	KMT2D	P	919	A	P919A	Benign	0	1	114	146
MUT:KMT2D:Pro919Leu	PROT:O14686	KMT2D	P	919	L	P919L	Benign	0	1	114	146
MUT:KMT2D:Pro931Leu	PROT:O14686	KMT2D	P	931	L	P931L	Benign	0	1	114	134
MUT:KMT2D:Pro972Leu	PROT:O14686	KMT2D	P	972	L	P972L	Benign	0	1	114	93
MUT:KMT2D:Ser1004Tyr	PROT:O14686	KMT2D	S	1004	Y	S1004Y	Likely benign	0	1	114	61
MUT:KMT2D:Ser1007Phe	PROT:O14686	KMT2D	S	1007	F	S1007F	Likely benign	0	1	114	58
MUT:KMT2D:Ser1013Ala	PROT:O14686	KMT2D	S	1013	A	S1013A	Likely benign	0	1	114	52
MUT:KMT2D:Ser1025Leu	PROT:O14686	KMT2D	S	1025	L	S1025L	Likely benign	0	1	114	40
MUT:KMT2D:Ser1025Pro	PROT:O14686	KMT2D	S	1025	P	S1025P	Benign	0	1	114	40
MUT:KMT2D:Ser102Thr	PROT:O14686	KMT2D	S	102	T	S102T	Likely benign	0	1	114	0
MUT:KMT2D:Ser1065Thr	PROT:O14686	KMT2D	S	1065	T	S1065T	Benign	0	1	114	0
MUT:KMT2D:Ser1102Cys	PROT:O14686	KMT2D	S	1102	C	S1102C	Benign	0	1	114	37
MUT:KMT2D:Ser112Thr	PROT:O14686	KMT2D	S	112	T	S112T	Benign	0	2	114	10
MUT:KMT2D:Ser1202Cys	PROT:O14686	KMT2D	S	1202	C	S1202C	Benign	0	1	114	4
MUT:KMT2D:Ser1237Ala	PROT:O14686	KMT2D	S	1237	A	S1237A	Likely benign	0	1	114	12
MUT:KMT2D:Ser1476Cys	PROT:O14686	KMT2D	S	1476	C	S1476C	Pathogenic	1	1	114	141
MUT:KMT2D:Ser1555Phe	PROT:O14686	KMT2D	S	1555	F	S1555F	Benign	0	2	114	116
MUT:KMT2D:Ser1632Leu	PROT:O14686	KMT2D	S	1632	L	S1632L	Benign/Likely benign	0	1	114	39
MUT:KMT2D:Ser1971Gly	PROT:O14686	KMT2D	S	1971	G	S1971G	Likely benign	0	1	114	21
MUT:KMT2D:Ser1997Phe	PROT:O14686	KMT2D	S	1997	F	S1997F	Likely benign	0	1	114	47
MUT:KMT2D:Ser2039Leu	PROT:O14686	KMT2D	S	2039	L	S2039L	Benign	0	1	114	89
MUT:KMT2D:Ser2149Leu	PROT:O14686	KMT2D	S	2149	L	S2149L	Benign/Likely benign	0	1	114	6
MUT:KMT2D:Ser2149Pro	PROT:O14686	KMT2D	S	2149	P	S2149P	Likely benign	0	1	114	6
MUT:KMT2D:Ser2215Thr	PROT:O14686	KMT2D	S	2215	T	S2215T	Benign/Likely benign	0	3	114	13
MUT:KMT2D:Ser2274Pro	PROT:O14686	KMT2D	S	2274	P	S2274P	Benign	0	1	114	0
MUT:KMT2D:Ser2281Thr	PROT:O14686	KMT2D	S	2281	T	S2281T	Likely benign	0	1	114	7
MUT:KMT2D:Ser2298Ile	PROT:O14686	KMT2D	S	2298	I	S2298I	Benign	0	1	114	0
MUT:KMT2D:Ser2312Leu	PROT:O14686	KMT2D	S	2312	L	S2312L	Benign/Likely benign	0	2	114	1
MUT:KMT2D:Ser23Ala	PROT:O14686	KMT2D	S	23	A	S23A	Benign	0	2	114	4
MUT:KMT2D:Ser2546Cys	PROT:O14686	KMT2D	S	2546	C	S2546C	Likely benign	0	1	114	34
MUT:KMT2D:Ser2590Leu	PROT:O14686	KMT2D	S	2590	L	S2590L	Benign	0	1	114	78
MUT:KMT2D:Ser2598Asn	PROT:O14686	KMT2D	S	2598	N	S2598N	Likely benign	0	1	114	86
MUT:KMT2D:Ser2600Tyr	PROT:O14686	KMT2D	S	2600	Y	S2600Y	Benign	0	1	114	88
MUT:KMT2D:Ser2614Leu	PROT:O14686	KMT2D	S	2614	L	S2614L	Benign/Likely benign	0	1	114	102
MUT:KMT2D:Ser2633Leu	PROT:O14686	KMT2D	S	2633	L	S2633L	Benign	0	1	114	93
MUT:KMT2D:Ser2719Thr	PROT:O14686	KMT2D	S	2719	T	S2719T	Benign/Likely benign	0	2	114	7
MUT:KMT2D:Ser2754Gly	PROT:O14686	KMT2D	S	2754	G	S2754G	Benign/Likely benign	0	1	114	12
MUT:KMT2D:Ser27Asn	PROT:O14686	KMT2D	S	27	N	S27N	Benign	0	2	114	0
MUT:KMT2D:Ser27Gly	PROT:O14686	KMT2D	S	27	G	S27G	Benign/Likely benign	0	1	114	0
MUT:KMT2D:Ser2852Tyr	PROT:O14686	KMT2D	S	2852	Y	S2852Y	Benign	0	1	114	97
MUT:KMT2D:Ser286Phe	PROT:O14686	KMT2D	S	286	F	S286F	Likely benign	0	1	114	80
MUT:KMT2D:Ser2910Arg	PROT:O14686	KMT2D	S	2910	R	S2910R	Likely benign	0	1	114	39
MUT:KMT2D:Ser3159Cys	PROT:O14686	KMT2D	S	3159	C	S3159C	Likely benign	0	1	114	20
MUT:KMT2D:Ser3175Asn	PROT:O14686	KMT2D	S	3175	N	S3175N	Benign	0	1	114	4
MUT:KMT2D:Ser3199Asn	PROT:O14686	KMT2D	S	3199	N	S3199N	Benign	0	1	114	0
MUT:KMT2D:Ser31Leu	PROT:O14686	KMT2D	S	31	L	S31L	Likely benign	0	1	114	0
MUT:KMT2D:Ser3305Gly	PROT:O14686	KMT2D	S	3305	G	S3305G	Benign	0	1	114	76
MUT:KMT2D:Ser3463Leu	PROT:O14686	KMT2D	S	3463	L	S3463L	Likely benign	0	1	114	0
MUT:KMT2D:Ser3478Asn	PROT:O14686	KMT2D	S	3478	N	S3478N	Benign	0	1	114	15
MUT:KMT2D:Ser360Thr	PROT:O14686	KMT2D	S	360	T	S360T	Benign	0	1	114	6
MUT:KMT2D:Ser3708Asn	PROT:O14686	KMT2D	S	3708	N	S3708N	Likely benign	0	1	114	84
MUT:KMT2D:Ser3708Gly	PROT:O14686	KMT2D	S	3708	G	S3708G	Likely benign	0	1	114	84
MUT:KMT2D:Ser3781Asn	PROT:O14686	KMT2D	S	3781	N	S3781N	Likely benign	0	1	114	56
MUT:KMT2D:Ser3896Cys	PROT:O14686	KMT2D	S	3896	C	S3896C	Benign	0	1	114	59
MUT:KMT2D:Ser3986Cys	PROT:O14686	KMT2D	S	3986	C	S3986C	Benign/Likely benign	0	1	114	18
MUT:KMT2D:Ser4010Pro	PROT:O14686	KMT2D	S	4010	P	S4010P	Benign	0	1	114	1
MUT:KMT2D:Ser4068Leu	PROT:O14686	KMT2D	S	4068	L	S4068L	Likely benign	0	1	114	57
MUT:KMT2D:Ser4070Thr	PROT:O14686	KMT2D	S	4070	T	S4070T	Benign	0	1	114	59
MUT:KMT2D:Ser4073Leu	PROT:O14686	KMT2D	S	4073	L	S4073L	Benign	0	1	114	62
MUT:KMT2D:Ser4181Cys	PROT:O14686	KMT2D	S	4181	C	S4181C	Benign	0	1	114	34
MUT:KMT2D:Ser4251Phe	PROT:O14686	KMT2D	S	4251	F	S4251F	Benign	0	1	114	36
MUT:KMT2D:Ser42Phe	PROT:O14686	KMT2D	S	42	F	S42F	Likely pathogenic	1	1	114	3
MUT:KMT2D:Ser4312Phe	PROT:O14686	KMT2D	S	4312	F	S4312F	Likely benign	0	1	114	47
MUT:KMT2D:Ser4327Asn	PROT:O14686	KMT2D	S	4327	N	S4327N	Benign	0	1	114	32
MUT:KMT2D:Ser4327Cys	PROT:O14686	KMT2D	S	4327	C	S4327C	Benign	0	1	114	32
MUT:KMT2D:Ser4414Asn	PROT:O14686	KMT2D	S	4414	N	S4414N	Likely benign	0	1	114	2
MUT:KMT2D:Ser4414Gly	PROT:O14686	KMT2D	S	4414	G	S4414G	Benign	0	1	114	2
MUT:KMT2D:Ser4475Gly	PROT:O14686	KMT2D	S	4475	G	S4475G	Benign	0	1	114	5
MUT:KMT2D:Ser4529Asn	PROT:O14686	KMT2D	S	4529	N	S4529N	Benign	0	1	114	24
MUT:KMT2D:Ser4574Asn	PROT:O14686	KMT2D	S	4574	N	S4574N	Likely benign	0	1	114	21
MUT:KMT2D:Ser459Phe	PROT:O14686	KMT2D	S	459	F	S459F	Benign	0	1	114	9
MUT:KMT2D:Ser459Tyr	PROT:O14686	KMT2D	S	459	Y	S459Y	Benign	0	1	114	9
MUT:KMT2D:Ser4713Gly	PROT:O14686	KMT2D	S	4713	G	S4713G	Benign	0	1	114	14
MUT:KMT2D:Ser4713Thr	PROT:O14686	KMT2D	S	4713	T	S4713T	Likely benign	0	1	114	14
MUT:KMT2D:Ser4780Arg	PROT:O14686	KMT2D	S	4780	R	S4780R	Likely benign	0	1	114	0
MUT:KMT2D:Ser4822Thr	PROT:O14686	KMT2D	S	4822	T	S4822T	Benign	0	1	114	0
MUT:KMT2D:Ser4907Leu	PROT:O14686	KMT2D	S	4907	L	S4907L	Benign	0	1	114	24
MUT:KMT2D:Ser518Leu	PROT:O14686	KMT2D	S	518	L	S518L	Benign	0	1	114	41
MUT:KMT2D:Ser5231Ala	PROT:O14686	KMT2D	S	5231	A	S5231A	Benign	0	1	114	45
MUT:KMT2D:Ser588Leu	PROT:O14686	KMT2D	S	588	L	S588L	Benign	0	1	114	21
MUT:KMT2D:Ser606Pro	PROT:O14686	KMT2D	S	606	P	S606P	Benign	0	1	114	3
MUT:KMT2D:Ser633Leu	PROT:O14686	KMT2D	S	633	L	S633L	Benign/Likely benign	0	1	114	15
MUT:KMT2D:Ser654Phe	PROT:O14686	KMT2D	S	654	F	S654F	Benign	0	1	114	0
MUT:KMT2D:Ser654Tyr	PROT:O14686	KMT2D	S	654	Y	S654Y	Benign/Likely benign	0	2	114	0
MUT:KMT2D:Ser690Pro	PROT:O14686	KMT2D	S	690	P	S690P	Benign	0	1	114	36
MUT:KMT2D:Ser699Cys	PROT:O14686	KMT2D	S	699	C	S699C	Benign	0	1	114	45
MUT:KMT2D:Ser807Tyr	PROT:O14686	KMT2D	S	807	Y	S807Y	Benign/Likely benign	0	1	114	63
MUT:KMT2D:Ser849Leu	PROT:O14686	KMT2D	S	849	L	S849L	Benign/Likely benign	0	2	114	105
MUT:KMT2D:Ser909Phe	PROT:O14686	KMT2D	S	909	F	S909F	Likely benign	0	1	114	156
MUT:KMT2D:Ser918Ala	PROT:O14686	KMT2D	S	918	A	S918A	Benign/Likely benign	0	1	114	147
MUT:KMT2D:Ser924Phe	PROT:O14686	KMT2D	S	924	F	S924F	Benign/Likely benign	0	2	114	141
MUT:KMT2D:Thr1122Ile	PROT:O14686	KMT2D	T	1122	I	T1122I	Benign	0	1	114	57
MUT:KMT2D:Thr1140Ala	PROT:O14686	KMT2D	T	1140	A	T1140A	Benign	0	1	114	55
MUT:KMT2D:Thr1175Ile	PROT:O14686	KMT2D	T	1175	I	T1175I	Benign	0	1	114	20
MUT:KMT2D:Thr1195Ala	PROT:O14686	KMT2D	T	1195	A	T1195A	Likely benign	0	1	114	0
MUT:KMT2D:Thr1246Met	PROT:O14686	KMT2D	T	1246	M	T1246M	Benign/Likely benign	0	3	114	3
MUT:KMT2D:Thr1370Ala	PROT:O14686	KMT2D	T	1370	A	T1370A	Benign	0	1	114	35
MUT:KMT2D:Thr1506Ser	PROT:O14686	KMT2D	T	1506	S	T1506S	Likely benign	0	1	114	165
MUT:KMT2D:Thr1604Ser	PROT:O14686	KMT2D	T	1604	S	T1604S	Benign	0	1	114	67
MUT:KMT2D:Thr1843Ala	PROT:O14686	KMT2D	T	1843	A	T1843A	Benign	0	1	114	0
MUT:KMT2D:Thr1911Ile	PROT:O14686	KMT2D	T	1911	I	T1911I	Benign	0	1	114	0
MUT:KMT2D:Thr1974Arg	PROT:O14686	KMT2D	T	1974	R	T1974R	Likely benign	0	1	114	24
MUT:KMT2D:Thr1974Lys	PROT:O14686	KMT2D	T	1974	K	T1974K	Benign	0	1	114	24
MUT:KMT2D:Thr1974Met	PROT:O14686	KMT2D	T	1974	M	T1974M	Benign/Likely benign	0	2	114	24
MUT:KMT2D:Thr2088Ile	PROT:O14686	KMT2D	T	2088	I	T2088I	Benign	0	1	114	67
MUT:KMT2D:Thr209Ile	PROT:O14686	KMT2D	T	209	I	T209I	Benign/Likely benign	0	2	114	107
MUT:KMT2D:Thr2137Pro	PROT:O14686	KMT2D	T	2137	P	T2137P	Likely benign	0	1	114	18
MUT:KMT2D:Thr2191Met	PROT:O14686	KMT2D	T	2191	M	T2191M	Benign	0	1	114	36
MUT:KMT2D:Thr2233Asn	PROT:O14686	KMT2D	T	2233	N	T2233N	Benign	0	1	114	0
MUT:KMT2D:Thr2240Pro	PROT:O14686	KMT2D	T	2240	P	T2240P	Likely benign	0	1	114	0
MUT:KMT2D:Thr2314Ala	PROT:O14686	KMT2D	T	2314	A	T2314A	Benign	0	1	114	0
MUT:KMT2D:Thr2323Ala	PROT:O14686	KMT2D	T	2323	A	T2323A	Benign	0	1	114	0
MUT:KMT2D:Thr2524Ala	PROT:O14686	KMT2D	T	2524	A	T2524A	Benign/Likely benign	0	1	114	12
MUT:KMT2D:Thr2530Ile	PROT:O14686	KMT2D	T	2530	I	T2530I	Likely benign	0	2	114	18
MUT:KMT2D:Thr2530Pro	PROT:O14686	KMT2D	T	2530	P	T2530P	Likely benign	0	1	114	18
MUT:KMT2D:Thr2584Ile	PROT:O14686	KMT2D	T	2584	I	T2584I	Likely benign	0	1	114	72
MUT:KMT2D:Thr2824Ala	PROT:O14686	KMT2D	T	2824	A	T2824A	Benign	0	1	114	82
MUT:KMT2D:Thr2827Ala	PROT:O14686	KMT2D	T	2827	A	T2827A	Benign/Likely benign	0	1	114	85
MUT:KMT2D:Thr2956Ala	PROT:O14686	KMT2D	T	2956	A	T2956A	Benign	0	1	114	7
MUT:KMT2D:Thr2959Ala	PROT:O14686	KMT2D	T	2959	A	T2959A	Benign	0	1	114	10
MUT:KMT2D:Thr3138Ser	PROT:O14686	KMT2D	T	3138	S	T3138S	Benign	0	1	114	8
MUT:KMT2D:Thr3188Arg	PROT:O14686	KMT2D	T	3188	R	T3188R	Likely benign	0	1	114	9
MUT:KMT2D:Thr3332Ser	PROT:O14686	KMT2D	T	3332	S	T3332S	Benign	0	1	114	101
MUT:KMT2D:Thr3675Ala	PROT:O14686	KMT2D	T	3675	A	T3675A	Benign	0	1	114	51
MUT:KMT2D:Thr4018Ile	PROT:O14686	KMT2D	T	4018	I	T4018I	Benign/Likely benign	0	2	114	7
MUT:KMT2D:Thr4022Met	PROT:O14686	KMT2D	T	4022	M	T4022M	Benign	0	1	114	11
MUT:KMT2D:Thr4053Ser	PROT:O14686	KMT2D	T	4053	S	T4053S	Likely benign	0	1	114	42
MUT:KMT2D:Thr4110Ile	PROT:O14686	KMT2D	T	4110	I	T4110I	Benign	0	1	114	99
MUT:KMT2D:Thr4193Ala	PROT:O14686	KMT2D	T	4193	A	T4193A	Likely benign	0	1	114	22
MUT:KMT2D:Thr4193Met	PROT:O14686	KMT2D	T	4193	M	T4193M	Likely benign	0	1	114	22
MUT:KMT2D:Thr4240Ile	PROT:O14686	KMT2D	T	4240	I	T4240I	Likely benign	0	1	114	25
MUT:KMT2D:Thr4298Ala	PROT:O14686	KMT2D	T	4298	A	T4298A	Likely benign	0	1	114	61
MUT:KMT2D:Thr4368Ala	PROT:O14686	KMT2D	T	4368	A	T4368A	Benign/Likely benign	0	2	114	9
MUT:KMT2D:Thr4368Asn	PROT:O14686	KMT2D	T	4368	N	T4368N	Benign/Likely benign	0	1	114	9
MUT:KMT2D:Thr4386Ile	PROT:O14686	KMT2D	T	4386	I	T4386I	Benign	0	1	114	27
MUT:KMT2D:Thr4505Ile	PROT:O14686	KMT2D	T	4505	I	T4505I	Likely benign	0	1	114	4
MUT:KMT2D:Thr4565Met	PROT:O14686	KMT2D	T	4565	M	T4565M	Benign/Likely benign	0	2	114	12
MUT:KMT2D:Thr4852Ala	PROT:O14686	KMT2D	T	4852	A	T4852A	Likely benign	0	1	114	0
MUT:KMT2D:Thr5018Ile	PROT:O14686	KMT2D	T	5018	I	T5018I	Likely benign	0	1	114	44
MUT:KMT2D:Thr5067Met	PROT:O14686	KMT2D	T	5067	M	T5067M	Benign/Likely benign	0	1	114	93
MUT:KMT2D:Thr5221Pro	PROT:O14686	KMT2D	T	5221	P	T5221P	Likely benign	0	1	114	55
MUT:KMT2D:Thr5256Asn	PROT:O14686	KMT2D	T	5256	N	T5256N	Benign	0	1	114	20
MUT:KMT2D:Thr534Met	PROT:O14686	KMT2D	T	534	M	T534M	Benign/Likely benign	0	2	114	57
MUT:KMT2D:Thr5372Ser	PROT:O14686	KMT2D	T	5372	S	T5372S	Benign/Likely benign	0	2	114	23
MUT:KMT2D:Thr5464Arg	PROT:O14686	KMT2D	T	5464	R	T5464R	Pathogenic	1	1	114	34
MUT:KMT2D:Thr54Ile	PROT:O14686	KMT2D	T	54	I	T54I	Benign	0	1	114	0
MUT:KMT2D:Thr563Ala	PROT:O14686	KMT2D	T	563	A	T563A	Benign	0	1	114	46
MUT:KMT2D:Thr680Met	PROT:O14686	KMT2D	T	680	M	T680M	Benign	0	2	114	26
MUT:KMT2D:Trp5065Leu	PROT:O14686	KMT2D	W	5065	L	W5065L	Likely pathogenic	1	1	114	91
MUT:KMT2D:Trp5065Ser	PROT:O14686	KMT2D	W	5065	S	W5065S	Pathogenic	1	1	114	91
MUT:KMT2D:Tyr1169Asn	PROT:O14686	KMT2D	Y	1169	N	Y1169N	Likely benign	0	1	114	26
MUT:KMT2D:Tyr2183Asn	PROT:O14686	KMT2D	Y	2183	N	Y2183N	Benign	0	1	114	28
MUT:KMT2D:Tyr2299Asn	PROT:O14686	KMT2D	Y	2299	N	Y2299N	Likely benign	0	1	114	0
MUT:KMT2D:Tyr2374Cys	PROT:O14686	KMT2D	Y	2374	C	Y2374C	Likely benign	0	1	114	32
MUT:KMT2D:Tyr2627His	PROT:O14686	KMT2D	Y	2627	H	Y2627H	Benign/Likely benign	0	1	114	99
MUT:KMT2D:Tyr2804Phe	PROT:O14686	KMT2D	Y	2804	F	Y2804F	Benign	0	1	114	62
MUT:KMT2D:Tyr3595Cys	PROT:O14686	KMT2D	Y	3595	C	Y3595C	Pathogenic/Likely pathogenic	1	2	114	25
MUT:KMT2D:Tyr4894Cys	PROT:O14686	KMT2D	Y	4894	C	Y4894C	Likely benign	0	1	114	11
MUT:KMT2D:Tyr5210Cys	PROT:O14686	KMT2D	Y	5210	C	Y5210C	Pathogenic/Likely pathogenic	1	1	114	66
MUT:KMT2D:Tyr5321Cys	PROT:O14686	KMT2D	Y	5321	C	Y5321C	Likely benign	0	1	114	20
MUT:KMT2D:Val1033Ile	PROT:O14686	KMT2D	V	1033	I	V1033I	Benign	0	1	114	32
MUT:KMT2D:Val1061Leu	PROT:O14686	KMT2D	V	1061	L	V1061L	Benign	0	1	114	4
MUT:KMT2D:Val1168Ile	PROT:O14686	KMT2D	V	1168	I	V1168I	Likely benign	0	1	114	27
MUT:KMT2D:Val1244Ala	PROT:O14686	KMT2D	V	1244	A	V1244A	Benign	0	1	114	5
MUT:KMT2D:Val1365Phe	PROT:O14686	KMT2D	V	1365	F	V1365F	Pathogenic	1	1	114	30
MUT:KMT2D:Val1515Ile	PROT:O14686	KMT2D	V	1515	I	V1515I	Likely benign	0	1	114	156
MUT:KMT2D:Val1515Leu	PROT:O14686	KMT2D	V	1515	L	V1515L	Likely benign	0	1	114	156
MUT:KMT2D:Val1554Ile	PROT:O14686	KMT2D	V	1554	I	V1554I	Likely benign	0	1	114	117
MUT:KMT2D:Val1560Met	PROT:O14686	KMT2D	V	1560	M	V1560M	Benign/Likely benign	0	1	114	111
MUT:KMT2D:Val1561Gly	PROT:O14686	KMT2D	V	1561	G	V1561G	Likely benign	0	2	114	110
MUT:KMT2D:Val1564Ala	PROT:O14686	KMT2D	V	1564	A	V1564A	Likely benign	0	1	114	107
MUT:KMT2D:Val1670Ile	PROT:O14686	KMT2D	V	1670	I	V1670I	Benign	0	1	114	1
MUT:KMT2D:Val1701Met	PROT:O14686	KMT2D	V	1701	M	V1701M	Likely benign	0	1	114	21
MUT:KMT2D:Val1792Ile	PROT:O14686	KMT2D	V	1792	I	V1792I	Benign	0	2	114	30
MUT:KMT2D:Val1794Met	PROT:O14686	KMT2D	V	1794	M	V1794M	Benign	0	1	114	32
MUT:KMT2D:Val1898Ile	PROT:O14686	KMT2D	V	1898	I	V1898I	Benign	0	2	114	2
MUT:KMT2D:Val2257Met	PROT:O14686	KMT2D	V	2257	M	V2257M	Benign/Likely benign	0	2	114	3
MUT:KMT2D:Val2307Ile	PROT:O14686	KMT2D	V	2307	I	V2307I	Benign/Likely benign	0	2	114	2
MUT:KMT2D:Val231Ala	PROT:O14686	KMT2D	V	231	A	V231A	Benign/Likely benign	0	2	114	129
MUT:KMT2D:Val2338Ile	PROT:O14686	KMT2D	V	2338	I	V2338I	Likely benign	0	2	114	4
MUT:KMT2D:Val2510Ile	PROT:O14686	KMT2D	V	2510	I	V2510I	Likely benign	0	1	114	2
MUT:KMT2D:Val2519Phe	PROT:O14686	KMT2D	V	2519	F	V2519F	Benign	0	1	114	7
MUT:KMT2D:Val2786Met	PROT:O14686	KMT2D	V	2786	M	V2786M	Likely benign	0	1	114	44
MUT:KMT2D:Val2868Ala	PROT:O14686	KMT2D	V	2868	A	V2868A	Likely benign	0	1	114	81
MUT:KMT2D:Val2884Ala	PROT:O14686	KMT2D	V	2884	A	V2884A	Likely benign	0	1	114	65
MUT:KMT2D:Val2884Ile	PROT:O14686	KMT2D	V	2884	I	V2884I	Likely benign	0	1	114	65
MUT:KMT2D:Val3089Leu	PROT:O14686	KMT2D	V	3089	L	V3089L	Likely benign	0	1	114	10
MUT:KMT2D:Val3114Leu	PROT:O14686	KMT2D	V	3114	L	V3114L	Benign	0	1	114	5
MUT:KMT2D:Val322Leu	PROT:O14686	KMT2D	V	322	L	V322L	Benign	0	1	114	44
MUT:KMT2D:Val3455Ala	PROT:O14686	KMT2D	V	3455	A	V3455A	Likely benign	0	1	114	8
MUT:KMT2D:Val3501Gly	PROT:O14686	KMT2D	V	3501	G	V3501G	Likely pathogenic	1	1	114	38
MUT:KMT2D:Val361Ile	PROT:O14686	KMT2D	V	361	I	V361I	Benign	0	1	114	5
MUT:KMT2D:Val3751Leu	PROT:O14686	KMT2D	V	3751	L	V3751L	Benign	0	1	114	86
MUT:KMT2D:Val390Ile	PROT:O14686	KMT2D	V	390	I	V390I	Benign	0	1	114	10
MUT:KMT2D:Val401Met	PROT:O14686	KMT2D	V	401	M	V401M	Benign	0	2	114	21
MUT:KMT2D:Val4029Glu	PROT:O14686	KMT2D	V	4029	E	V4029E	Likely benign	0	1	114	18
MUT:KMT2D:Val4029Ile	PROT:O14686	KMT2D	V	4029	I	V4029I	Benign	0	1	114	18
MUT:KMT2D:Val4033Ile	PROT:O14686	KMT2D	V	4033	I	V4033I	Benign/Likely benign	0	1	114	22
MUT:KMT2D:Val4204Ile	PROT:O14686	KMT2D	V	4204	I	V4204I	Benign/Likely benign	0	3	114	11
MUT:KMT2D:Val4301Ile	PROT:O14686	KMT2D	V	4301	I	V4301I	Likely benign	0	1	114	58
MUT:KMT2D:Val4305Ile	PROT:O14686	KMT2D	V	4305	I	V4305I	Benign/Likely benign	0	2	114	54
MUT:KMT2D:Val4395Leu	PROT:O14686	KMT2D	V	4395	L	V4395L	Likely benign	0	1	114	21
MUT:KMT2D:Val4407Ala	PROT:O14686	KMT2D	V	4407	A	V4407A	Benign/Likely benign	0	1	114	9
MUT:KMT2D:Val4533Leu	PROT:O14686	KMT2D	V	4533	L	V4533L	Likely benign	0	1	114	20
MUT:KMT2D:Val4545Ile	PROT:O14686	KMT2D	V	4545	I	V4545I	Benign/Likely benign	0	1	114	8
MUT:KMT2D:Val4545Phe	PROT:O14686	KMT2D	V	4545	F	V4545F	Benign	0	2	114	8
MUT:KMT2D:Val4642Ala	PROT:O14686	KMT2D	V	4642	A	V4642A	Likely benign	0	1	114	1
MUT:KMT2D:Val4903Met	PROT:O14686	KMT2D	V	4903	M	V4903M	Likely benign	0	1	114	20
MUT:KMT2D:Val4934Ala	PROT:O14686	KMT2D	V	4934	A	V4934A	Benign/Likely benign	0	1	114	21
MUT:KMT2D:Val4985Leu	PROT:O14686	KMT2D	V	4985	L	V4985L	Benign	0	1	114	11
MUT:KMT2D:Val5184Leu	PROT:O14686	KMT2D	V	5184	L	V5184L	Benign	0	1	114	92
MUT:KMT2D:Val5208Leu	PROT:O14686	KMT2D	V	5208	L	V5208L	Likely benign	0	1	114	68
MUT:KMT2D:Val5208Met	PROT:O14686	KMT2D	V	5208	M	V5208M	Likely benign	0	1	114	68
MUT:KMT2D:Val5254Ile	PROT:O14686	KMT2D	V	5254	I	V5254I	Benign	0	1	114	22
MUT:KMT2D:Val5301Met	PROT:O14686	KMT2D	V	5301	M	V5301M	Likely benign	0	1	114	25
MUT:KMT2D:Val5482Glu	PROT:O14686	KMT2D	V	5482	E	V5482E	Likely benign	0	1	114	16
MUT:KMT2D:Val63Leu	PROT:O14686	KMT2D	V	63	L	V63L	Likely benign	0	1	114	9
MUT:KMT2D:Val96Leu	PROT:O14686	KMT2D	V	96	L	V96L	Likely benign	0	1	114	6
MUT:KMT2D:Val96Met	PROT:O14686	KMT2D	V	96	M	V96M	Benign	0	1	114	6
MUT:KMT2E:Ala460Ser	PROT:Q8IZD2	KMT2E	A	460	S	A460S	Likely benign	0	1	16	193
MUT:KMT2E:Arg409Trp	PROT:Q8IZD2	KMT2E	R	409	W	R409W	Likely pathogenic	1	2	16	153
MUT:KMT2E:Arg598Gly	PROT:Q8IZD2	KMT2E	R	598	G	R598G	Likely pathogenic	1	1	16	55
MUT:KMT2E:Arg963Cys	PROT:Q8IZD2	KMT2E	R	963	C	R963C	Likely benign	0	2	16	3
MUT:KMT2E:Asn1010Ser	PROT:Q8IZD2	KMT2E	N	1010	S	N1010S	Likely benign	0	1	16	44
MUT:KMT2E:Asn1195Ser	PROT:Q8IZD2	KMT2E	N	1195	S	N1195S	Benign	0	1	16	48
MUT:KMT2E:Asn1407Ser	PROT:Q8IZD2	KMT2E	N	1407	S	N1407S	Likely benign	0	1	16	2
MUT:KMT2E:Asn224Ser	PROT:Q8IZD2	KMT2E	N	224	S	N224S	Likely benign	0	1	16	32
MUT:KMT2E:Asp1054Glu	PROT:Q8IZD2	KMT2E	D	1054	E	D1054E	Likely benign	0	1	16	34
MUT:KMT2E:Asp907Val	PROT:Q8IZD2	KMT2E	D	907	V	D907V	Likely pathogenic	1	1	16	5
MUT:KMT2E:Glu441Lys	PROT:Q8IZD2	KMT2E	E	441	K	E441K	Likely pathogenic	1	1	16	185
MUT:KMT2E:Gly1585Glu	PROT:Q8IZD2	KMT2E	G	1585	E	G1585E	Likely benign	0	1	16	180
MUT:KMT2E:Gly257Asp	PROT:Q8IZD2	KMT2E	G	257	D	G257D	Likely benign	0	1	16	1
MUT:KMT2E:Gly295Cys	PROT:Q8IZD2	KMT2E	G	295	C	G295C	Likely benign	0	1	16	39
MUT:KMT2E:His1394Gln	PROT:Q8IZD2	KMT2E	H	1394	Q	H1394Q	Benign/Likely benign	0	1	16	11
MUT:KMT2E:Leu1159Pro	PROT:Q8IZD2	KMT2E	L	1159	P	L1159P	Likely pathogenic	1	1	16	12
MUT:KMT2E:Lys1356Asn	PROT:Q8IZD2	KMT2E	K	1356	N	K1356N	Likely pathogenic	1	1	16	1
MUT:KMT2E:Lys463Glu	PROT:Q8IZD2	KMT2E	K	463	E	K463E	Likely benign	0	1	16	190
MUT:KMT2E:Met1063Thr	PROT:Q8IZD2	KMT2E	M	1063	T	M1063T	Likely benign	0	1	16	25
MUT:KMT2E:Pro1325Ser	PROT:Q8IZD2	KMT2E	P	1325	S	P1325S	Likely benign	0	1	16	15
MUT:KMT2E:Pro1747Ala	PROT:Q8IZD2	KMT2E	P	1747	A	P1747A	Benign	0	1	16	342
MUT:KMT2E:Pro1784Ser	PROT:Q8IZD2	KMT2E	P	1784	S	P1784S	Likely benign	0	1	16	379
MUT:KMT2E:Pro781Ser	PROT:Q8IZD2	KMT2E	P	781	S	P781S	Likely benign	0	1	16	1
MUT:KMT2E:Ser1424Pro	PROT:Q8IZD2	KMT2E	S	1424	P	S1424P	Benign	0	1	16	19
MUT:KMT2E:Thr1455Met	PROT:Q8IZD2	KMT2E	T	1455	M	T1455M	Benign/Likely benign	0	1	16	50
MUT:KMT2E:Val1157Phe	PROT:Q8IZD2	KMT2E	V	1157	F	V1157F	Likely pathogenic	1	2	16	10
MUT:KMT2E:Val1662Ala	PROT:Q8IZD2	KMT2E	V	1662	A	V1662A	Benign	0	1	16	257
MUT:KMT5A:Asp240Ala	PROT:Q9NQR1	KMT5A	D	240	A	D240A	Likely benign	0	1	11	6
MUT:KNG1:Asp141Asn	PROT:P01042	KNG1	D	141	N	D141N	Likely benign	0	1	7	185
MUT:KNG1:Ile197Met	PROT:P01042	KNG1	I	197	M	I197M	Benign	0	1	7	129
MUT:KNG1:Met379Lys	PROT:P01042	KNG1	M	379	K	M379K	Pathogenic	1	1	7	7
MUT:KNG1:Pro574Ala	PROT:P01042	KNG1	P	574	A	P574A	Pathogenic	1	1	7	183
MUT:KPNA3:Arg167His	PROT:O00505	KPNA3	R	167	H	R167H	Likely benign	0	1	8	46
MUT:KPNA3:Leu328Pro	PROT:O00505	KPNA3	L	328	P	L328P	Pathogenic	1	1	8	146
MUT:KPNA3:Leu334Arg	PROT:O00505	KPNA3	L	334	R	L334R	Pathogenic	1	1	8	140
MUT:KPNA3:Leu350Pro	PROT:O00505	KPNA3	L	350	P	L350P	Pathogenic	1	1	8	124
MUT:KPNA3:Leu407Arg	PROT:O00505	KPNA3	L	407	R	L407R	Pathogenic	1	1	8	67
MUT:KPNA3:Ser209Asn	PROT:O00505	KPNA3	S	209	N	S209N	Likely benign	0	1	8	88
MUT:KPNA3:Thr315Ile	PROT:O00505	KPNA3	T	315	I	T315I	Likely pathogenic	1	1	8	159
MUT:KRIT1:Ala196Gly	PROT:O00522	KRIT1	A	196	G	A196G	Likely benign	0	1	13	34
MUT:KRIT1:Ala555Val	PROT:O00522	KRIT1	A	555	V	A555V	Pathogenic	1	1	13	143
MUT:KRIT1:Arg26Gln	PROT:O00522	KRIT1	R	26	Q	R26Q	Benign/Likely benign	0	3	13	4
MUT:KRIT1:Arg452His	PROT:O00522	KRIT1	R	452	H	R452H	Likely benign	0	1	13	40
MUT:KRIT1:Arg485His	PROT:O00522	KRIT1	R	485	H	R485H	Likely benign	0	1	13	73
MUT:KRIT1:Asp137Gly	PROT:O00522	KRIT1	D	137	G	D137G	Likely pathogenic	1	2	13	14
MUT:KRIT1:Gln201Glu	PROT:O00522	KRIT1	Q	201	E	Q201E	Pathogenic	1	2	13	29
MUT:KRIT1:Gln473His	PROT:O00522	KRIT1	Q	473	H	Q473H	Likely benign	0	1	13	61
MUT:KRIT1:Gly235Arg	PROT:O00522	KRIT1	G	235	R	G235R	Likely pathogenic	1	1	13	5
MUT:KRIT1:Ile415Met	PROT:O00522	KRIT1	I	415	M	I415M	Benign/Likely benign	0	2	13	3
MUT:KRIT1:Ile79Val	PROT:O00522	KRIT1	I	79	V	I79V	Likely benign	0	1	13	33
MUT:KRIT1:Lys675Asn	PROT:O00522	KRIT1	K	675	N	K675N	Likely pathogenic	1	1	13	263
MUT:KRIT1:Met1Val	PROT:O00522	KRIT1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	13	21
MUT:KRIT1:Ser467Leu	PROT:O00522	KRIT1	S	467	L	S467L	Likely pathogenic	1	1	13	55
MUT:KRIT1:Ser736Leu	PROT:O00522	KRIT1	S	736	L	S736L	Likely benign	0	1	13	324
MUT:KRIT1:Tyr331Cys	PROT:O00522	KRIT1	Y	331	C	Y331C	Pathogenic	1	1	13	55
MUT:KRT10:Arg156His	PROT:P13645	KRT10	R	156	H	R156H	Pathogenic	1	5	23	3
MUT:KRT10:Arg422Glu	PROT:P13645	KRT10	R	422	E	R422E	Pathogenic	1	1	23	8
MUT:KRT10:Arg86His	PROT:P13645	KRT10	R	86	H	R86H	Benign/Likely benign	0	1	23	24
MUT:KRT10:Asn154His	PROT:P13645	KRT10	N	154	H	N154H	Pathogenic	1	1	23	5
MUT:KRT10:Gly120Asp	PROT:P13645	KRT10	G	120	D	G120D	Likely pathogenic	1	1	23	39
MUT:KRT10:Gly575Val	PROT:P13645	KRT10	G	575	V	G575V	Benign	0	1	23	2
MUT:KRT10:His487Tyr	PROT:P13645	KRT10	H	487	Y	H487Y	Benign	0	3	23	28
MUT:KRT10:His491Tyr	PROT:P13645	KRT10	H	491	Y	H491Y	Likely benign	0	1	23	32
MUT:KRT10:Ile446Thr	PROT:P13645	KRT10	I	446	T	I446T	Pathogenic	1	1	23	7
MUT:KRT10:Leu157Arg	PROT:P13645	KRT10	L	157	R	L157R	Likely pathogenic	1	1	23	2
MUT:KRT10:Leu157Pro	PROT:P13645	KRT10	L	157	P	L157P	Pathogenic	1	1	23	2
MUT:KRT10:Leu161Ser	PROT:P13645	KRT10	L	161	S	L161S	Pathogenic	1	1	23	1
MUT:KRT10:Leu435Arg	PROT:P13645	KRT10	L	435	R	L435R	Likely pathogenic	1	1	23	4
MUT:KRT10:Leu435Pro	PROT:P13645	KRT10	L	435	P	L435P	Pathogenic	1	1	23	4
MUT:KRT10:Leu436Pro	PROT:P13645	KRT10	L	436	P	L436P	Pathogenic/Likely pathogenic	1	1	23	3
MUT:KRT10:Leu442Gln	PROT:P13645	KRT10	L	442	Q	L442Q	Pathogenic	1	1	23	3
MUT:KRT10:Lys439Glu	PROT:P13645	KRT10	K	439	E	K439E	Pathogenic	1	1	23	0
MUT:KRT10:Met150Arg	PROT:P13645	KRT10	M	150	R	M150R	Pathogenic	1	1	23	9
MUT:KRT10:Met150Thr	PROT:P13645	KRT10	M	150	T	M150T	Pathogenic	1	1	23	9
MUT:KRT10:Ser508Arg	PROT:P13645	KRT10	S	508	R	S508R	Benign	0	2	23	49
MUT:KRT10:Ser527Gly	PROT:P13645	KRT10	S	527	G	S527G	Likely benign	0	1	23	46
MUT:KRT10:Thr430Ala	PROT:P13645	KRT10	T	430	A	T430A	Likely benign	0	1	23	0
MUT:KRT10:Tyr160Asp	PROT:P13645	KRT10	Y	160	D	Y160D	Pathogenic	1	1	23	0
MUT:KRT10:Tyr499His	PROT:P13645	KRT10	Y	499	H	Y499H	Likely benign	0	1	23	40
MUT:KRT10:Tyr542Ser	PROT:P13645	KRT10	Y	542	S	Y542S	Benign	0	1	23	31
MUT:KRT14:Ala247Thr	PROT:P02533	KRT14	A	247	T	A247T	Benign	0	1	28	1
MUT:KRT14:Ala413Thr	PROT:P02533	KRT14	A	413	T	A413T	Benign/Likely benign	0	1	28	1
MUT:KRT14:Arg125Cys	PROT:P02533	KRT14	R	125	C	R125C	Pathogenic	1	3	28	3
MUT:KRT14:Arg125His	PROT:P02533	KRT14	R	125	H	R125H	Pathogenic	1	4	28	3
MUT:KRT14:Asn123Ser	PROT:P02533	KRT14	N	123	S	N123S	Pathogenic	1	1	28	5
MUT:KRT14:Asn140Ser	PROT:P02533	KRT14	N	140	S	N140S	Likely pathogenic	1	1	28	8
MUT:KRT14:Asp124Glu	PROT:P02533	KRT14	D	124	E	D124E	Likely pathogenic	1	1	28	4
MUT:KRT14:Glu144Ala	PROT:P02533	KRT14	E	144	A	E144A	Pathogenic	1	1	28	7
MUT:KRT14:Glu254Gly	PROT:P02533	KRT14	E	254	G	E254G	Likely benign	0	1	28	3
MUT:KRT14:Glu411Gly	PROT:P02533	KRT14	E	411	G	E411G	Likely pathogenic	1	1	28	3
MUT:KRT14:Glu422Lys	PROT:P02533	KRT14	E	422	K	E422K	Pathogenic	1	1	28	5
MUT:KRT14:Ile377Thr	PROT:P02533	KRT14	I	377	T	I377T	Pathogenic	1	1	28	21
MUT:KRT14:Leu384Pro	PROT:P02533	KRT14	L	384	P	L384P	Likely pathogenic	1	2	28	14
MUT:KRT14:Leu402Arg	PROT:P02533	KRT14	L	402	R	L402R	Pathogenic	1	1	28	3
MUT:KRT14:Leu408Gln	PROT:P02533	KRT14	L	408	Q	L408Q	Pathogenic	1	1	28	3
MUT:KRT14:Leu419Gln	PROT:P02533	KRT14	L	419	Q	L419Q	Pathogenic	1	1	28	4
MUT:KRT14:Met119Arg	PROT:P02533	KRT14	M	119	R	M119R	Likely pathogenic	1	1	28	9
MUT:KRT14:Met119Ile	PROT:P02533	KRT14	M	119	I	M119I	Pathogenic	1	1	28	9
MUT:KRT14:Met119Thr	PROT:P02533	KRT14	M	119	T	M119T	Pathogenic	1	2	28	9
MUT:KRT14:Met119Val	PROT:P02533	KRT14	M	119	V	M119V	Pathogenic/Likely pathogenic	1	2	28	9
MUT:KRT14:Met272Arg	PROT:P02533	KRT14	M	272	R	M272R	Pathogenic	1	1	28	19
MUT:KRT14:Met272Lys	PROT:P02533	KRT14	M	272	K	M272K	Likely pathogenic	1	1	28	19
MUT:KRT14:Met272Thr	PROT:P02533	KRT14	M	272	T	M272T	Pathogenic	1	2	28	19
MUT:KRT14:Tyr129Asp	PROT:P02533	KRT14	Y	129	D	Y129D	Pathogenic	1	1	28	0
MUT:KRT14:Tyr415Cys	PROT:P02533	KRT14	Y	415	C	Y415C	Pathogenic	1	1	28	0
MUT:KRT14:Tyr415His	PROT:P02533	KRT14	Y	415	H	Y415H	Pathogenic	1	1	28	0
MUT:KRT14:Val133Gly	PROT:P02533	KRT14	V	133	G	V133G	Likely pathogenic	1	1	28	1
MUT:KRT14:Val133Met	PROT:P02533	KRT14	V	133	M	V133M	Pathogenic/Likely pathogenic	1	1	28	1
MUT:KRT14:Val270Met	PROT:P02533	KRT14	V	270	M	V270M	Pathogenic	1	1	28	19
MUT:KRT16:Ala249Val	PROT:P08779	KRT16	A	249	V	A249V	Likely benign	0	1	19	1
MUT:KRT16:Arg127Cys	PROT:P08779	KRT16	R	127	C	R127C	Pathogenic	1	3	19	3
MUT:KRT16:Arg127Pro	PROT:P08779	KRT16	R	127	P	R127P	Pathogenic	1	1	19	3
MUT:KRT16:Arg213Trp	PROT:P08779	KRT16	R	213	W	R213W	Benign	0	1	19	22
MUT:KRT16:Arg390Cys	PROT:P08779	KRT16	R	390	C	R390C	Benign/Likely benign	0	1	19	26
MUT:KRT16:Arg418Cys	PROT:P08779	KRT16	R	418	C	R418C	Benign	0	1	19	1
MUT:KRT16:Arg41Cys	PROT:P08779	KRT16	R	41	C	R41C	Benign	0	1	19	3
MUT:KRT16:Asn125Asp	PROT:P08779	KRT16	N	125	D	N125D	Pathogenic	1	1	19	5
MUT:KRT16:Asn125Gly	PROT:P08779	KRT16	N	125	G	N125G	Pathogenic	1	1	19	5
MUT:KRT16:Asn125Ser	PROT:P08779	KRT16	N	125	S	N125S	Pathogenic	1	2	19	5
MUT:KRT16:Gln122Arg	PROT:P08779	KRT16	Q	122	R	Q122R	Likely pathogenic	1	1	19	8
MUT:KRT16:Gln122Pro	PROT:P08779	KRT16	Q	122	P	Q122P	Pathogenic	1	1	19	8
MUT:KRT16:Leu124Arg	PROT:P08779	KRT16	L	124	R	L124R	Pathogenic	1	1	19	6
MUT:KRT16:Leu128Gln	PROT:P08779	KRT16	L	128	Q	L128Q	Pathogenic	1	1	19	2
MUT:KRT16:Leu132Pro	PROT:P08779	KRT16	L	132	P	L132P	Pathogenic	1	1	19	1
MUT:KRT16:Met121Thr	PROT:P08779	KRT16	M	121	T	M121T	Pathogenic/Likely pathogenic	1	2	19	9
MUT:KRT16:Ser373Ala	PROT:P08779	KRT16	S	373	A	S373A	Likely benign	0	1	19	13
MUT:KRT16:Val220Ile	PROT:P08779	KRT16	V	220	I	V220I	Likely benign	0	1	19	15
MUT:KRT17:Arg94Cys	PROT:Q04695	KRT17	R	94	C	R94C	Pathogenic	1	2	37	3
MUT:KRT17:Arg94His	PROT:Q04695	KRT17	R	94	H	R94H	Pathogenic/Likely pathogenic	1	2	37	3
MUT:KRT17:Arg94Pro	PROT:Q04695	KRT17	R	94	P	R94P	Pathogenic	1	1	37	3
MUT:KRT17:Asn92Asp	PROT:Q04695	KRT17	N	92	D	N92D	Pathogenic	1	1	37	5
MUT:KRT17:Asn92His	PROT:Q04695	KRT17	N	92	H	N92H	Pathogenic	1	1	37	5
MUT:KRT17:Asn92Ser	PROT:Q04695	KRT17	N	92	S	N92S	Pathogenic	1	2	37	5
MUT:KRT17:Glu223Lys	PROT:Q04695	KRT17	E	223	K	E223K	Benign	0	1	37	3
MUT:KRT17:Leu95Gln	PROT:Q04695	KRT17	L	95	Q	L95Q	Pathogenic	1	1	37	2
MUT:KRT17:Leu95Pro	PROT:Q04695	KRT17	L	95	P	L95P	Pathogenic	1	1	37	2
MUT:KRT17:Leu99Pro	PROT:Q04695	KRT17	L	99	P	L99P	Pathogenic	1	1	37	1
MUT:KRT17:Met88Thr	PROT:Q04695	KRT17	M	88	T	M88T	Pathogenic	1	1	37	9
MUT:KRT17:Ser4Thr	PROT:Q04695	KRT17	S	4	T	S4T	Benign	0	1	37	9
MUT:KRT17:Tyr98Asp	PROT:Q04695	KRT17	Y	98	D	Y98D	Pathogenic	1	1	37	0
MUT:KRT17:Val102Met	PROT:Q04695	KRT17	V	102	M	V102M	Pathogenic	1	1	37	1
MUT:KRT1:Ala454Ser	PROT:P04264	KRT1	A	454	S	A454S	Benign	0	2	29	27
MUT:KRT1:Arg38His	PROT:P04264	KRT1	R	38	H	R38H	Benign/Likely benign	0	3	29	17
MUT:KRT1:Arg432Cys	PROT:P04264	KRT1	R	432	C	R432C	Benign/Likely benign	0	3	29	5
MUT:KRT1:Arg65Trp	PROT:P04264	KRT1	R	65	W	R65W	Likely benign	0	1	29	1
MUT:KRT1:Arg86Ser	PROT:P04264	KRT1	R	86	S	R86S	Benign	0	1	29	20
MUT:KRT1:Asn188Ile	PROT:P04264	KRT1	N	188	I	N188I	Likely pathogenic	1	1	29	5
MUT:KRT1:Asn188Lys	PROT:P04264	KRT1	N	188	K	N188K	Pathogenic	1	3	29	5
MUT:KRT1:Asn188Ser	PROT:P04264	KRT1	N	188	S	N188S	Pathogenic/Likely pathogenic	1	2	29	5
MUT:KRT1:Glu311Gln	PROT:P04264	KRT1	E	311	Q	E311Q	Pathogenic	1	1	29	14
MUT:KRT1:Glu478Gln	PROT:P04264	KRT1	E	478	Q	E478Q	Pathogenic	1	1	29	13
MUT:KRT1:Glu478Gly	PROT:P04264	KRT1	E	478	G	E478G	Pathogenic	1	1	29	13
MUT:KRT1:His225Gln	PROT:P04264	KRT1	H	225	Q	H225Q	Likely benign	0	1	29	21
MUT:KRT1:Ile114Phe	PROT:P04264	KRT1	I	114	F	I114F	Likely benign	0	1	29	48
MUT:KRT1:Ile479Phe	PROT:P04264	KRT1	I	479	F	I479F	Pathogenic	1	1	29	12
MUT:KRT1:Ile479Thr	PROT:P04264	KRT1	I	479	T	I479T	Pathogenic/Likely pathogenic	1	3	29	12
MUT:KRT1:Leu161Pro	PROT:P04264	KRT1	L	161	P	L161P	Pathogenic	1	1	29	32
MUT:KRT1:Leu187Phe	PROT:P04264	KRT1	L	187	F	L187F	Pathogenic	1	1	29	6
MUT:KRT1:Leu187Pro	PROT:P04264	KRT1	L	187	P	L187P	Pathogenic	1	1	29	6
MUT:KRT1:Leu208Pro	PROT:P04264	KRT1	L	208	P	L208P	Pathogenic	1	1	29	11
MUT:KRT1:Lys633Arg	PROT:P04264	KRT1	K	633	R	K633R	Benign	0	2	29	5
MUT:KRT1:Lys74Ile	PROT:P04264	KRT1	K	74	I	K74I	Pathogenic	1	1	29	8
MUT:KRT1:Ser178Pro	PROT:P04264	KRT1	S	178	P	S178P	Likely pathogenic	1	1	29	15
MUT:KRT1:Ser344Asn	PROT:P04264	KRT1	S	344	N	S344N	Benign	0	3	29	0
MUT:KRT1:Ser557Gly	PROT:P04264	KRT1	S	557	G	S557G	Benign	0	3	29	41
MUT:KRT1:Tyr482Cys	PROT:P04264	KRT1	Y	482	C	Y482C	Likely pathogenic	1	1	29	9
MUT:KRT1:Val155Asp	PROT:P04264	KRT1	V	155	D	V155D	Pathogenic	1	1	29	38
MUT:KRT20:Val413Met	PROT:P35900	KRT20	V	413	M	V413M	Likely benign	0	1	8	11
MUT:KRT3:Arg199Trp	PROT:P12035	KRT3	R	199	W	R199W	Likely benign	0	1	6	75
MUT:KRT3:Arg503Pro	PROT:P12035	KRT3	R	503	P	R503P	Pathogenic	1	1	6	8
MUT:KRT3:Arg84Trp	PROT:P12035	KRT3	R	84	W	R84W	Benign/Likely benign	0	1	6	19
MUT:KRT3:Glu448Lys	PROT:P12035	KRT3	E	448	K	E448K	Likely benign	0	1	6	63
MUT:KRT3:Glu498Lys	PROT:P12035	KRT3	E	498	K	E498K	Likely pathogenic	1	1	6	13
MUT:KRT3:Glu498Val	PROT:P12035	KRT3	E	498	V	E498V	Pathogenic	1	1	6	13
MUT:KRT3:Glu509Asp	PROT:P12035	KRT3	E	509	D	E509D	Likely pathogenic	1	1	6	2
MUT:KRT3:Glu509Lys	PROT:P12035	KRT3	E	509	K	E509K	Pathogenic	1	1	6	2
MUT:KRT3:Gly601Asp	PROT:P12035	KRT3	G	601	D	G601D	Likely benign	0	1	6	90
MUT:KRT4:Ala72Val	PROT:P19013	KRT4	A	72	V	A72V	Benign	0	2	14	4
MUT:KRT4:Arg208His	PROT:P19013	KRT4	R	208	H	R208H	Benign	0	2	14	19
MUT:KRT4:Arg41Gln	PROT:P19013	KRT4	R	41	Q	R41Q	Benign	0	2	14	7
MUT:KRT4:Arg420Cys	PROT:P19013	KRT4	R	420	C	R420C	Benign	0	1	14	2
MUT:KRT4:Arg440Cys	PROT:P19013	KRT4	R	440	C	R440C	Benign/Likely benign	0	2	14	13
MUT:KRT4:Asn183Ser	PROT:P19013	KRT4	N	183	S	N183S	Benign/Likely benign	0	1	14	33
MUT:KRT4:Cys7Gly	PROT:P19013	KRT4	C	7	G	C7G	Likely benign	0	1	14	9
MUT:KRT4:Gln156Arg	PROT:P19013	KRT4	Q	156	R	Q156R	Benign	0	2	14	6
MUT:KRT4:Glu185Asp	PROT:P19013	KRT4	E	185	D	E185D	Likely benign	0	1	14	35
MUT:KRT4:Glu435Lys	PROT:P19013	KRT4	E	435	K	E435K	Pathogenic	1	1	14	8
MUT:KRT4:Gly24Ser	PROT:P19013	KRT4	G	24	S	G24S	Likely benign	0	1	14	5
MUT:KRT4:Gly75Glu	PROT:P19013	KRT4	G	75	E	G75E	Benign	0	1	14	7
MUT:KRT4:His398Tyr	PROT:P19013	KRT4	H	398	Y	H398Y	Likely benign	0	1	14	24
MUT:KRT4:Ile339Thr	PROT:P19013	KRT4	I	339	T	I339T	Likely benign	0	1	14	9
MUT:KRT4:Ile372Val	PROT:P19013	KRT4	I	372	V	I372V	Likely benign	0	1	14	42
MUT:KRT4:Ser353Asn	PROT:P19013	KRT4	S	353	N	S353N	Likely benign	0	1	14	23
MUT:KRT4:Ser486Gly	PROT:P19013	KRT4	S	486	G	S486G	Likely benign	0	1	14	59
MUT:KRT4:Thr135Met	PROT:P19013	KRT4	T	135	M	T135M	Benign	0	1	14	12
MUT:KRT4:Thr290Met	PROT:P19013	KRT4	T	290	M	T290M	Likely benign	0	1	14	25
MUT:KRT4:Val383Met	PROT:P19013	KRT4	V	383	M	V383M	Likely benign	0	1	14	39
MUT:KRT4:Val402Ile	PROT:P19013	KRT4	V	402	I	V402I	Likely benign	0	1	14	20
MUT:KRT6B:Arg15His	PROT:P04259	KRT6B	R	15	H	R15H	Likely benign	0	1	37	5
MUT:KRT6B:Arg466Cys	PROT:P04259	KRT6B	R	466	C	R466C	Benign	0	1	37	1
MUT:KRT6B:Asn21Ser	PROT:P04259	KRT6B	N	21	S	N21S	Benign	0	2	37	1
MUT:KRT6B:Asp396Asn	PROT:P04259	KRT6B	D	396	N	D396N	Benign/Likely benign	0	2	37	3
MUT:KRT6B:Glu461Lys	PROT:P04259	KRT6B	E	461	K	E461K	Pathogenic/Likely pathogenic	1	1	37	6
MUT:KRT6B:Glu472Lys	PROT:P04259	KRT6B	E	472	K	E472K	Pathogenic	1	1	37	5
MUT:KRT6B:Gly111Asp	PROT:P04259	KRT6B	G	111	D	G111D	Benign	0	2	37	26
MUT:KRT6B:Gly499Ser	PROT:P04259	KRT6B	G	499	S	G499S	Benign	0	1	37	32
MUT:KRT6B:Gly88Arg	PROT:P04259	KRT6B	G	88	R	G88R	Benign	0	1	37	3
MUT:KRT6B:Gly97Arg	PROT:P04259	KRT6B	G	97	R	G97R	Benign	0	1	37	12
MUT:KRT6B:Ile365Val	PROT:P04259	KRT6B	I	365	V	I365V	Benign	0	3	37	1
MUT:KRT6B:Ile36Val	PROT:P04259	KRT6B	I	36	V	I36V	Likely benign	0	1	37	1
MUT:KRT6B:Leu249Phe	PROT:P04259	KRT6B	L	249	F	L249F	Likely benign	0	1	37	12
MUT:KRT6B:Leu469Arg	PROT:P04259	KRT6B	L	469	R	L469R	Pathogenic	1	1	37	2
MUT:KRT6B:Lys438Arg	PROT:P04259	KRT6B	K	438	R	K438R	Likely benign	0	1	37	10
MUT:KRT6B:Met279Leu	PROT:P04259	KRT6B	M	279	L	M279L	Likely benign	0	1	37	11
MUT:KRT6B:Thr535Ile	PROT:P04259	KRT6B	T	535	I	T535I	Likely benign	0	1	37	5
MUT:KRT6B:Tyr497Cys	PROT:P04259	KRT6B	Y	497	C	Y497C	Benign	0	1	37	30
MUT:KRT81:Glu402Lys	PROT:Q14533	KRT81	E	402	K	E402K	Likely pathogenic	1	1	6	7
MUT:KRT81:Glu413Lys	PROT:Q14533	KRT81	E	413	K	E413K	Pathogenic	1	1	6	18
MUT:KRT83:Ala104Thr	PROT:P78385	KRT83	A	104	T	A104T	Likely benign	0	1	6	144
MUT:KRT83:Ala354Thr	PROT:P78385	KRT83	A	354	T	A354T	Benign	0	1	6	18
MUT:KRT83:Arg149Cys	PROT:P78385	KRT83	R	149	C	R149C	Benign	0	2	6	99
MUT:KRT83:Arg226Cys	PROT:P78385	KRT83	R	226	C	R226C	Benign	0	1	6	22
MUT:KRT83:Cys151Tyr	PROT:P78385	KRT83	C	151	Y	C151Y	Benign	0	1	6	97
MUT:KRT83:Cys23Gly	PROT:P78385	KRT83	C	23	G	C23G	Benign	0	1	6	225
MUT:KRT83:Cys423Ser	PROT:P78385	KRT83	C	423	S	C423S	Benign/Likely benign	0	2	6	23
MUT:KRT83:Glu407Lys	PROT:P78385	KRT83	E	407	K	E407K	Likely pathogenic	1	2	6	7
MUT:KRT83:Glu418Lys	PROT:P78385	KRT83	E	418	K	E418K	Pathogenic	1	1	6	18
MUT:KRT83:Gly362Ser	PROT:P78385	KRT83	G	362	S	G362S	Benign	0	1	6	10
MUT:KRT83:Gly443Arg	PROT:P78385	KRT83	G	443	R	G443R	Benign/Likely benign	0	1	6	43
MUT:KRT83:Gly471Asp	PROT:P78385	KRT83	G	471	D	G471D	Benign	0	2	6	71
MUT:KRT83:His493Tyr	PROT:P78385	KRT83	H	493	Y	H493Y	Benign	0	1	6	93
MUT:KRT83:Ile254Val	PROT:P78385	KRT83	I	254	V	I254V	Benign/Likely benign	0	1	6	6
MUT:KRT83:Ile279Met	PROT:P78385	KRT83	I	279	M	I279M	Benign	0	1	6	31
MUT:KRT83:Ser367Asn	PROT:P78385	KRT83	S	367	N	S367N	Benign/Likely benign	0	1	6	5
MUT:KRT83:Thr166Ser	PROT:P78385	KRT83	T	166	S	T166S	Benign	0	1	6	82
MUT:KRT83:Val174Leu	PROT:P78385	KRT83	V	174	L	V174L	Benign	0	1	6	74
MUT:KRT85:Arg78His	PROT:P78386	KRT85	R	78	H	R78H	Benign/Likely benign	0	1	7	71
MUT:KRT8:Ala319Ser	PROT:P05787	KRT8	A	319	S	A319S	Likely benign	0	1	89	4
MUT:KRT8:Ala447Val	PROT:P05787	KRT8	A	447	V	A447V	Likely benign	0	1	89	4
MUT:KRT8:Gly434Ser	PROT:P05787	KRT8	G	434	S	G434S	Benign	0	1	89	2
MUT:KRT8:Gly62Cys	PROT:P05787	KRT8	G	62	C	G62C	Benign/Likely benign	0	1	89	2
MUT:KRT8:Ile63Val	PROT:P05787	KRT8	I	63	V	I63V	Benign/Likely benign	0	2	89	1
MUT:KRT8:Lys122Thr	PROT:P05787	KRT8	K	122	T	K122T	Likely benign	0	1	89	0
MUT:KRT8:Tyr54His	PROT:P05787	KRT8	Y	54	H	Y54H	Benign	0	2	89	0
MUT:KRT8:Val480Ile	PROT:P05787	KRT8	V	480	I	V480I	Benign	0	1	89	2
MUT:KRT9:Arg163Gln	PROT:P35527	KRT9	R	163	Q	R163Q	Pathogenic/Likely pathogenic	1	3	11	3
MUT:KRT9:Arg163Leu	PROT:P35527	KRT9	R	163	L	R163L	Pathogenic/Likely pathogenic	1	1	11	3
MUT:KRT9:Arg163Trp	PROT:P35527	KRT9	R	163	W	R163W	Pathogenic/Likely pathogenic	1	3	11	3
MUT:KRT9:Asn161Ile	PROT:P35527	KRT9	N	161	I	N161I	Pathogenic	1	1	11	5
MUT:KRT9:Asn161Lys	PROT:P35527	KRT9	N	161	K	N161K	Likely pathogenic	1	2	11	5
MUT:KRT9:Asn161Ser	PROT:P35527	KRT9	N	161	S	N161S	Pathogenic	1	1	11	5
MUT:KRT9:Asn161Tyr	PROT:P35527	KRT9	N	161	Y	N161Y	Pathogenic	1	1	11	5
MUT:KRT9:Asp180Glu	PROT:P35527	KRT9	D	180	E	D180E	Benign/Likely benign	0	1	11	10
MUT:KRT9:Gln172Pro	PROT:P35527	KRT9	Q	172	P	Q172P	Pathogenic	1	1	11	2
MUT:KRT9:Gly146Asp	PROT:P35527	KRT9	G	146	D	G146D	Likely benign	0	1	11	20
MUT:KRT9:Gly482Arg	PROT:P35527	KRT9	G	482	R	G482R	Likely benign	0	1	11	3
MUT:KRT9:Leu160Phe	PROT:P35527	KRT9	L	160	F	L160F	Pathogenic	1	1	11	6
MUT:KRT9:Leu160Val	PROT:P35527	KRT9	L	160	V	L160V	Pathogenic	1	1	11	6
MUT:KRT9:Leu168Ser	PROT:P35527	KRT9	L	168	S	L168S	Pathogenic	1	1	11	2
MUT:KRT9:Leu419Val	PROT:P35527	KRT9	L	419	V	L419V	Likely benign	0	1	11	66
MUT:KRT9:Met157Val	PROT:P35527	KRT9	M	157	V	M157V	Pathogenic	1	1	11	9
MUT:KRT9:Ser82Asn	PROT:P35527	KRT9	S	82	N	S82N	Likely benign	0	2	11	58
MUT:KRT9:Tyr167Asn	PROT:P35527	KRT9	Y	167	N	Y167N	Likely pathogenic	1	1	11	1
MUT:KRT9:Tyr167Ser	PROT:P35527	KRT9	Y	167	S	Y167S	Likely pathogenic	1	1	11	1
MUT:KRT9:Val171Gly	PROT:P35527	KRT9	V	171	G	V171G	Likely pathogenic	1	1	11	1
MUT:KRT9:Val171Met	PROT:P35527	KRT9	V	171	M	V171M	Pathogenic	1	1	11	1
MUT:KSR2:Arg554Gln	PROT:Q6VAB6	KSR2	R	554	Q	R554Q	Benign/Likely benign	0	1	15	109
MUT:KSR2:Asp323Glu	PROT:Q6VAB6	KSR2	D	323	E	D323E	Benign	0	1	15	5
MUT:KSR2:Ser904Leu	PROT:Q6VAB6	KSR2	S	904	L	S904L	Benign/Likely benign	0	1	15	10
MUT:KSR2:Thr175Arg	PROT:Q6VAB6	KSR2	T	175	R	T175R	Likely benign	0	1	15	56
MUT:KSR2:Val345Ile	PROT:Q6VAB6	KSR2	V	345	I	V345I	Likely benign	0	1	15	25
MUT:L1CAM:Ala1101Val	PROT:P32004	L1CAM	A	1101	V	A1101V	Benign	0	1	49	49
MUT:L1CAM:Ala1118Thr	PROT:P32004	L1CAM	A	1118	T	A1118T	Benign	0	1	49	32
MUT:L1CAM:Ala1237Val	PROT:P32004	L1CAM	A	1237	V	A1237V	Benign/Likely benign	0	1	49	2
MUT:L1CAM:Ala1255Thr	PROT:P32004	L1CAM	A	1255	T	A1255T	Benign	0	2	49	7
MUT:L1CAM:Ala1255Val	PROT:P32004	L1CAM	A	1255	V	A1255V	Benign	0	1	49	7
MUT:L1CAM:Ala231Thr	PROT:P32004	L1CAM	A	231	T	A231T	Likely benign	0	1	49	1
MUT:L1CAM:Ala321Val	PROT:P32004	L1CAM	A	321	V	A321V	Benign	0	1	49	17
MUT:L1CAM:Ala324Val	PROT:P32004	L1CAM	A	324	V	A324V	Benign	0	1	49	14
MUT:L1CAM:Ala388Thr	PROT:P32004	L1CAM	A	388	T	A388T	Likely benign	0	1	49	10
MUT:L1CAM:Ala453Val	PROT:P32004	L1CAM	A	453	V	A453V	Likely benign	0	1	49	33
MUT:L1CAM:Ala489Thr	PROT:P32004	L1CAM	A	489	T	A489T	Benign	0	1	49	26
MUT:L1CAM:Ala593Val	PROT:P32004	L1CAM	A	593	V	A593V	Likely benign	0	1	49	18
MUT:L1CAM:Ala643Thr	PROT:P32004	L1CAM	A	643	T	A643T	Likely benign	0	1	49	12
MUT:L1CAM:Ala906Thr	PROT:P32004	L1CAM	A	906	T	A906T	Benign	0	1	49	122
MUT:L1CAM:Arg1094Thr	PROT:P32004	L1CAM	R	1094	T	R1094T	Benign	0	1	49	56
MUT:L1CAM:Arg1097Trp	PROT:P32004	L1CAM	R	1097	W	R1097W	Likely benign	0	1	49	53
MUT:L1CAM:Arg113Cys	PROT:P32004	L1CAM	R	113	C	R113C	Likely benign	0	1	49	27
MUT:L1CAM:Arg184Gln	PROT:P32004	L1CAM	R	184	Q	R184Q	Pathogenic	1	3	49	4
MUT:L1CAM:Arg184Trp	PROT:P32004	L1CAM	R	184	W	R184W	Pathogenic	1	2	49	4
MUT:L1CAM:Arg217Gly	PROT:P32004	L1CAM	R	217	G	R217G	Likely pathogenic	1	1	49	5
MUT:L1CAM:Arg241Cys	PROT:P32004	L1CAM	R	241	C	R241C	Likely benign	0	1	49	11
MUT:L1CAM:Arg278His	PROT:P32004	L1CAM	R	278	H	R278H	Benign/Likely benign	0	1	49	23
MUT:L1CAM:Arg311Cys	PROT:P32004	L1CAM	R	311	C	R311C	Likely benign	0	1	49	10
MUT:L1CAM:Arg322Trp	PROT:P32004	L1CAM	R	322	W	R322W	Likely benign	0	1	49	16
MUT:L1CAM:Arg386His	PROT:P32004	L1CAM	R	386	H	R386H	Benign	0	1	49	8
MUT:L1CAM:Arg409Gln	PROT:P32004	L1CAM	R	409	Q	R409Q	Likely benign	0	1	49	9
MUT:L1CAM:Arg44His	PROT:P32004	L1CAM	R	44	H	R44H	Benign	0	1	49	12
MUT:L1CAM:Arg473Cys	PROT:P32004	L1CAM	R	473	C	R473C	Pathogenic/Likely pathogenic	1	2	49	42
MUT:L1CAM:Arg485Gln	PROT:P32004	L1CAM	R	485	Q	R485Q	Likely benign	0	1	49	30
MUT:L1CAM:Arg494Cys	PROT:P32004	L1CAM	R	494	C	R494C	Benign	0	1	49	21
MUT:L1CAM:Arg494His	PROT:P32004	L1CAM	R	494	H	R494H	Likely benign	0	1	49	21
MUT:L1CAM:Arg525His	PROT:P32004	L1CAM	R	525	H	R525H	Benign	0	1	49	5
MUT:L1CAM:Arg554His	PROT:P32004	L1CAM	R	554	H	R554H	Likely benign	0	1	49	24
MUT:L1CAM:Arg558Gln	PROT:P32004	L1CAM	R	558	Q	R558Q	Benign	0	1	49	28
MUT:L1CAM:Arg575His	PROT:P32004	L1CAM	R	575	H	R575H	Benign	0	1	49	36
MUT:L1CAM:Arg617Gln	PROT:P32004	L1CAM	R	617	Q	R617Q	Likely benign	0	1	49	6
MUT:L1CAM:Arg617Trp	PROT:P32004	L1CAM	R	617	W	R617W	Benign	0	1	49	6
MUT:L1CAM:Arg632Cys	PROT:P32004	L1CAM	R	632	C	R632C	Likely benign	0	1	49	21
MUT:L1CAM:Arg632His	PROT:P32004	L1CAM	R	632	H	R632H	Likely benign	0	1	49	21
MUT:L1CAM:Arg739Gln	PROT:P32004	L1CAM	R	739	Q	R739Q	Likely benign	0	1	49	30
MUT:L1CAM:Arg739Trp	PROT:P32004	L1CAM	R	739	W	R739W	Benign	0	1	49	30
MUT:L1CAM:Arg751His	PROT:P32004	L1CAM	R	751	H	R751H	Likely benign	0	1	49	33
MUT:L1CAM:Arg834Gln	PROT:P32004	L1CAM	R	834	Q	R834Q	Likely benign	0	1	49	50
MUT:L1CAM:Arg834Trp	PROT:P32004	L1CAM	R	834	W	R834W	Benign	0	1	49	50
MUT:L1CAM:Arg846Cys	PROT:P32004	L1CAM	R	846	C	R846C	Benign	0	1	49	62
MUT:L1CAM:Arg886Gln	PROT:P32004	L1CAM	R	886	Q	R886Q	Benign/Likely benign	0	1	49	102
MUT:L1CAM:Arg886Trp	PROT:P32004	L1CAM	R	886	W	R886W	Benign	0	1	49	102
MUT:L1CAM:Arg901Gln	PROT:P32004	L1CAM	R	901	Q	R901Q	Likely benign	0	1	49	117
MUT:L1CAM:Arg937His	PROT:P32004	L1CAM	R	937	H	R937H	Benign	0	1	49	153
MUT:L1CAM:Arg971Gln	PROT:P32004	L1CAM	R	971	Q	R971Q	Likely benign	0	1	49	179
MUT:L1CAM:Arg976Gln	PROT:P32004	L1CAM	R	976	Q	R976Q	Likely benign	0	1	49	174
MUT:L1CAM:Arg988Trp	PROT:P32004	L1CAM	R	988	W	R988W	Likely benign	0	1	49	162
MUT:L1CAM:Arg990Cys	PROT:P32004	L1CAM	R	990	C	R990C	Benign	0	1	49	160
MUT:L1CAM:Asn1196Lys	PROT:P32004	L1CAM	N	1196	K	N1196K	Likely benign	0	1	49	2
MUT:L1CAM:Asn408Asp	PROT:P32004	L1CAM	N	408	D	N408D	Likely pathogenic	1	1	49	10
MUT:L1CAM:Asn433His	PROT:P32004	L1CAM	N	433	H	N433H	Benign/Likely benign	0	2	49	13
MUT:L1CAM:Asn642Ser	PROT:P32004	L1CAM	N	642	S	N642S	Benign	0	1	49	13
MUT:L1CAM:Asn792Lys	PROT:P32004	L1CAM	N	792	K	N792K	Likely pathogenic	1	1	49	8
MUT:L1CAM:Asn876Ser	PROT:P32004	L1CAM	N	876	S	N876S	Likely benign	0	1	49	92
MUT:L1CAM:Asp1019Gly	PROT:P32004	L1CAM	D	1019	G	D1019G	Likely benign	0	1	49	131
MUT:L1CAM:Asp1085Gly	PROT:P32004	L1CAM	D	1085	G	D1085G	Likely benign	0	1	49	65
MUT:L1CAM:Asp202Gly	PROT:P32004	L1CAM	D	202	G	D202G	Pathogenic	1	1	49	20
MUT:L1CAM:Asp286Asn	PROT:P32004	L1CAM	D	286	N	D286N	Benign/Likely benign	0	1	49	15
MUT:L1CAM:Asp559Glu	PROT:P32004	L1CAM	D	559	E	D559E	Likely benign	0	1	49	29
MUT:L1CAM:Asp598Asn	PROT:P32004	L1CAM	D	598	N	D598N	Pathogenic	1	1	49	13
MUT:L1CAM:Asp72Ala	PROT:P32004	L1CAM	D	72	A	D72A	Likely pathogenic	1	1	49	5
MUT:L1CAM:Asp959Glu	PROT:P32004	L1CAM	D	959	E	D959E	Likely benign	0	1	49	175
MUT:L1CAM:Asp959Gly	PROT:P32004	L1CAM	D	959	G	D959G	Benign	0	1	49	175
MUT:L1CAM:Asp982Asn	PROT:P32004	L1CAM	D	982	N	D982N	Likely benign	0	1	49	168
MUT:L1CAM:Cys158Tyr	PROT:P32004	L1CAM	C	158	Y	C158Y	Likely pathogenic	1	1	49	5
MUT:L1CAM:Cys264Phe	PROT:P32004	L1CAM	C	264	F	C264F	Pathogenic	1	1	49	34
MUT:L1CAM:Cys264Tyr	PROT:P32004	L1CAM	C	264	Y	C264Y	Pathogenic	1	1	49	34
MUT:L1CAM:Cys539Gly	PROT:P32004	L1CAM	C	539	G	C539G	Likely pathogenic	1	1	49	9
MUT:L1CAM:Gln106Arg	PROT:P32004	L1CAM	Q	106	R	Q106R	Likely benign	0	1	49	29
MUT:L1CAM:Gln106His	PROT:P32004	L1CAM	Q	106	H	Q106H	Likely benign	0	1	49	29
MUT:L1CAM:Gln1099Arg	PROT:P32004	L1CAM	Q	1099	R	Q1099R	Likely benign	0	1	49	51
MUT:L1CAM:Gln258His	PROT:P32004	L1CAM	Q	258	H	Q258H	Benign	0	1	49	28
MUT:L1CAM:Gln361His	PROT:P32004	L1CAM	Q	361	H	Q361H	Benign	0	1	49	17
MUT:L1CAM:Gln380His	PROT:P32004	L1CAM	Q	380	H	Q380H	Likely benign	0	1	49	2
MUT:L1CAM:Gln794His	PROT:P32004	L1CAM	Q	794	H	Q794H	Likely benign	0	1	49	10
MUT:L1CAM:Gln801Glu	PROT:P32004	L1CAM	Q	801	E	Q801E	Likely benign	0	1	49	17
MUT:L1CAM:Glu183Lys	PROT:P32004	L1CAM	E	183	K	E183K	Benign	0	1	49	3
MUT:L1CAM:Glu267Lys	PROT:P32004	L1CAM	E	267	K	E267K	Likely benign	0	1	49	34
MUT:L1CAM:Glu27Ala	PROT:P32004	L1CAM	E	27	A	E27A	Likely benign	0	1	49	29
MUT:L1CAM:Glu309Lys	PROT:P32004	L1CAM	E	309	K	E309K	Pathogenic/Likely pathogenic	1	4	49	8
MUT:L1CAM:Glu315Lys	PROT:P32004	L1CAM	E	315	K	E315K	Benign/Likely benign	0	1	49	14
MUT:L1CAM:Glu33Asp	PROT:P32004	L1CAM	E	33	D	E33D	Benign/Likely benign	0	1	49	23
MUT:L1CAM:Glu463Gln	PROT:P32004	L1CAM	E	463	Q	E463Q	Benign	0	1	49	43
MUT:L1CAM:Glu64Lys	PROT:P32004	L1CAM	E	64	K	E64K	Likely benign	0	1	49	8
MUT:L1CAM:Glu660Ala	PROT:P32004	L1CAM	E	660	A	E660A	Benign	0	1	49	1
MUT:L1CAM:Glu699Lys	PROT:P32004	L1CAM	E	699	K	E699K	Likely benign	0	1	49	5
MUT:L1CAM:Glu855Asp	PROT:P32004	L1CAM	E	855	D	E855D	Likely benign	0	1	49	71
MUT:L1CAM:Gly1002Asp	PROT:P32004	L1CAM	G	1002	D	G1002D	Likely pathogenic	1	1	49	148
MUT:L1CAM:Gly1060Arg	PROT:P32004	L1CAM	G	1060	R	G1060R	Benign	0	1	49	90
MUT:L1CAM:Gly1125Ser	PROT:P32004	L1CAM	G	1125	S	G1125S	Likely benign	0	1	49	25
MUT:L1CAM:Gly370Arg	PROT:P32004	L1CAM	G	370	R	G370R	Pathogenic	1	4	49	8
MUT:L1CAM:Gly411Trp	PROT:P32004	L1CAM	G	411	W	G411W	Likely pathogenic	1	1	49	7
MUT:L1CAM:Gly452Arg	PROT:P32004	L1CAM	G	452	R	G452R	Pathogenic	1	3	49	32
MUT:L1CAM:Gly523Arg	PROT:P32004	L1CAM	G	523	R	G523R	Likely benign	0	1	49	5
MUT:L1CAM:Gly532Asp	PROT:P32004	L1CAM	G	532	D	G532D	Likely benign	0	1	49	2
MUT:L1CAM:Gly557Ala	PROT:P32004	L1CAM	G	557	A	G557A	Likely benign	0	1	49	27
MUT:L1CAM:Gly557Ser	PROT:P32004	L1CAM	G	557	S	G557S	Benign	0	1	49	27
MUT:L1CAM:Gly574Glu	PROT:P32004	L1CAM	G	574	E	G574E	Benign	0	2	49	37
MUT:L1CAM:Gly698Arg	PROT:P32004	L1CAM	G	698	R	G698R	Pathogenic	1	2	49	4
MUT:L1CAM:Gly820Asp	PROT:P32004	L1CAM	G	820	D	G820D	Benign	0	1	49	36
MUT:L1CAM:Gly919Asp	PROT:P32004	L1CAM	G	919	D	G919D	Likely benign	0	1	49	135
MUT:L1CAM:His210Gln	PROT:P32004	L1CAM	H	210	Q	H210Q	Pathogenic	1	1	49	12
MUT:L1CAM:His410Asp	PROT:P32004	L1CAM	H	410	D	H410D	Likely pathogenic	1	1	49	8
MUT:L1CAM:His861Gln	PROT:P32004	L1CAM	H	861	Q	H861Q	Benign	0	2	49	77
MUT:L1CAM:His944Gln	PROT:P32004	L1CAM	H	944	Q	H944Q	Benign	0	1	49	160
MUT:L1CAM:Ile1130Val	PROT:P32004	L1CAM	I	1130	V	I1130V	Benign	0	1	49	20
MUT:L1CAM:Ile179Ser	PROT:P32004	L1CAM	I	179	S	I179S	Pathogenic	1	1	49	1
MUT:L1CAM:Leu1112Phe	PROT:P32004	L1CAM	L	1112	F	L1112F	Likely benign	0	1	49	38
MUT:L1CAM:Leu560Ile	PROT:P32004	L1CAM	L	560	I	L560I	Benign	0	1	49	30
MUT:L1CAM:Leu958Val	PROT:P32004	L1CAM	L	958	V	L958V	Benign/Likely benign	0	2	49	174
MUT:L1CAM:Lys1233Arg	PROT:P32004	L1CAM	K	1233	R	K1233R	Likely benign	0	1	49	2
MUT:L1CAM:Lys137Gln	PROT:P32004	L1CAM	K	137	Q	K137Q	Likely benign	0	1	49	3
MUT:L1CAM:Met1100Ile	PROT:P32004	L1CAM	M	1100	I	M1100I	Likely benign	0	1	49	50
MUT:L1CAM:Met124Val	PROT:P32004	L1CAM	M	124	V	M124V	Likely benign	0	1	49	16
MUT:L1CAM:Met131Ile	PROT:P32004	L1CAM	M	131	I	M131I	Likely benign	0	1	49	9
MUT:L1CAM:Met131Val	PROT:P32004	L1CAM	M	131	V	M131V	Likely benign	0	1	49	9
MUT:L1CAM:Met1Ile	PROT:P32004	L1CAM	M	1	I	M1I	Likely pathogenic	1	1	49	55
MUT:L1CAM:Met1Val	PROT:P32004	L1CAM	M	1	V	M1V	Likely pathogenic	1	1	49	55
MUT:L1CAM:Met235Val	PROT:P32004	L1CAM	M	235	V	M235V	Benign	0	1	49	5
MUT:L1CAM:Met741Thr	PROT:P32004	L1CAM	M	741	T	M741T	Likely benign	0	1	49	32
MUT:L1CAM:Phe496Leu	PROT:P32004	L1CAM	F	496	L	F496L	Benign	0	1	49	19
MUT:L1CAM:Phe543Ser	PROT:P32004	L1CAM	F	543	S	F543S	Benign	0	1	49	13
MUT:L1CAM:Pro10Ser	PROT:P32004	L1CAM	P	10	S	P10S	Benign	0	1	49	46
MUT:L1CAM:Pro145Ser	PROT:P32004	L1CAM	P	145	S	P145S	Likely benign	0	1	49	1
MUT:L1CAM:Pro240Leu	PROT:P32004	L1CAM	P	240	L	P240L	Pathogenic/Likely pathogenic	1	6	49	10
MUT:L1CAM:Pro279Ala	PROT:P32004	L1CAM	P	279	A	P279A	Benign	0	1	49	22
MUT:L1CAM:Pro282Ser	PROT:P32004	L1CAM	P	282	S	P282S	Likely benign	0	1	49	19
MUT:L1CAM:Pro333Arg	PROT:P32004	L1CAM	P	333	R	P333R	Pathogenic/Likely pathogenic	1	1	49	5
MUT:L1CAM:Pro702Leu	PROT:P32004	L1CAM	P	702	L	P702L	Benign/Likely benign	0	1	49	4
MUT:L1CAM:Pro771His	PROT:P32004	L1CAM	P	771	H	P771H	Likely benign	0	1	49	13
MUT:L1CAM:Pro800His	PROT:P32004	L1CAM	P	800	H	P800H	Likely pathogenic	1	1	49	16
MUT:L1CAM:Pro90Leu	PROT:P32004	L1CAM	P	90	L	P90L	Likely benign	0	1	49	13
MUT:L1CAM:Pro941Leu	PROT:P32004	L1CAM	P	941	L	P941L	Pathogenic	1	1	49	157
MUT:L1CAM:Ser1191Thr	PROT:P32004	L1CAM	S	1191	T	S1191T	Likely benign	0	1	49	0
MUT:L1CAM:Ser1194Leu	PROT:P32004	L1CAM	S	1194	L	S1194L	Pathogenic/Likely pathogenic	1	2	49	0
MUT:L1CAM:Ser1224Leu	PROT:P32004	L1CAM	S	1224	L	S1224L	Pathogenic/Likely pathogenic	1	2	49	0
MUT:L1CAM:Ser280Thr	PROT:P32004	L1CAM	S	280	T	S280T	Benign	0	1	49	21
MUT:L1CAM:Ser317Leu	PROT:P32004	L1CAM	S	317	L	S317L	Benign	0	1	49	16
MUT:L1CAM:Ser594Asn	PROT:P32004	L1CAM	S	594	N	S594N	Likely benign	0	1	49	17
MUT:L1CAM:Ser634Phe	PROT:P32004	L1CAM	S	634	F	S634F	Benign	0	1	49	21
MUT:L1CAM:Ser89Leu	PROT:P32004	L1CAM	S	89	L	S89L	Benign	0	1	49	12
MUT:L1CAM:Thr1076Met	PROT:P32004	L1CAM	T	1076	M	T1076M	Likely benign	0	1	49	74
MUT:L1CAM:Thr1076Pro	PROT:P32004	L1CAM	T	1076	P	T1076P	Likely pathogenic	1	1	49	74
MUT:L1CAM:Thr1247Ala	PROT:P32004	L1CAM	T	1247	A	T1247A	Benign	0	1	49	0
MUT:L1CAM:Thr186Met	PROT:P32004	L1CAM	T	186	M	T186M	Benign	0	1	49	6
MUT:L1CAM:Thr246Ala	PROT:P32004	L1CAM	T	246	A	T246A	Likely benign	0	1	49	16
MUT:L1CAM:Thr296Ala	PROT:P32004	L1CAM	T	296	A	T296A	Likely benign	0	1	49	5
MUT:L1CAM:Thr38Met	PROT:P32004	L1CAM	T	38	M	T38M	Benign/Likely benign	0	2	49	18
MUT:L1CAM:Thr686Asn	PROT:P32004	L1CAM	T	686	N	T686N	Likely benign	0	1	49	8
MUT:L1CAM:Thr977Ala	PROT:P32004	L1CAM	T	977	A	T977A	Benign/Likely benign	0	1	49	173
MUT:L1CAM:Thr981Ile	PROT:P32004	L1CAM	T	981	I	T981I	Likely benign	0	1	49	169
MUT:L1CAM:Thr98Arg	PROT:P32004	L1CAM	T	98	R	T98R	Likely benign	0	1	49	21
MUT:L1CAM:Thr98Met	PROT:P32004	L1CAM	T	98	M	T98M	Benign	0	1	49	21
MUT:L1CAM:Tyr382Asp	PROT:P32004	L1CAM	Y	382	D	Y382D	Likely benign	0	1	49	4
MUT:L1CAM:Tyr784Cys	PROT:P32004	L1CAM	Y	784	C	Y784C	Pathogenic	1	1	49	0
MUT:L1CAM:Val1136Ile	PROT:P32004	L1CAM	V	1136	I	V1136I	Benign/Likely benign	0	1	49	14
MUT:L1CAM:Val1254Met	PROT:P32004	L1CAM	V	1254	M	V1254M	Benign/Likely benign	0	1	49	6
MUT:L1CAM:Val31Ala	PROT:P32004	L1CAM	V	31	A	V31A	Benign	0	1	49	25
MUT:L1CAM:Val373Met	PROT:P32004	L1CAM	V	373	M	V373M	Likely benign	0	1	49	5
MUT:L1CAM:Val421Ile	PROT:P32004	L1CAM	V	421	I	V421I	Benign/Likely benign	0	2	49	1
MUT:L1CAM:Val535Met	PROT:P32004	L1CAM	V	535	M	V535M	Likely benign	0	1	49	5
MUT:L1CAM:Val599Ala	PROT:P32004	L1CAM	V	599	A	V599A	Benign	0	1	49	12
MUT:L1CAM:Val633Met	PROT:P32004	L1CAM	V	633	M	V633M	Benign	0	1	49	22
MUT:L1CAM:Val689Ile	PROT:P32004	L1CAM	V	689	I	V689I	Benign	0	1	49	5
MUT:L1CAM:Val703Phe	PROT:P32004	L1CAM	V	703	F	V703F	Benign	0	1	49	3
MUT:L1CAM:Val708Asp	PROT:P32004	L1CAM	V	708	D	V708D	Benign/Likely benign	0	1	49	1
MUT:L1CAM:Val748Ala	PROT:P32004	L1CAM	V	748	A	V748A	Likely benign	0	1	49	36
MUT:L1CAM:Val752Met	PROT:P32004	L1CAM	V	752	M	V752M	Pathogenic	1	3	49	32
MUT:L1CAM:Val782Leu	PROT:P32004	L1CAM	V	782	L	V782L	Likely benign	0	1	49	2
MUT:L1CAM:Val782Met	PROT:P32004	L1CAM	V	782	M	V782M	Benign	0	1	49	2
MUT:L1CAM:Val791Ile	PROT:P32004	L1CAM	V	791	I	V791I	Likely benign	0	1	49	7
MUT:L1CAM:Val829Met	PROT:P32004	L1CAM	V	829	M	V829M	Likely benign	0	1	49	45
MUT:L1CAM:Val947Met	PROT:P32004	L1CAM	V	947	M	V947M	Likely benign	0	1	49	163
MUT:L2HGDH:Ala140Pro	PROT:Q9H9P8	L2HGDH	A	140	P	A140P	Pathogenic	1	1	10	15
MUT:L2HGDH:Arg282Trp	PROT:Q9H9P8	L2HGDH	R	282	W	R282W	Likely pathogenic	1	1	10	15
MUT:L2HGDH:Arg33Ser	PROT:Q9H9P8	L2HGDH	R	33	S	R33S	Benign/Likely benign	0	2	10	69
MUT:L2HGDH:Asn216Ser	PROT:Q9H9P8	L2HGDH	N	216	S	N216S	Benign	0	1	10	10
MUT:L2HGDH:Glu176Asp	PROT:Q9H9P8	L2HGDH	E	176	D	E176D	Pathogenic/Likely pathogenic	1	1	10	3
MUT:L2HGDH:Gly156Val	PROT:Q9H9P8	L2HGDH	G	156	V	G156V	Likely pathogenic	1	1	10	1
MUT:L2HGDH:Gly55Asp	PROT:Q9H9P8	L2HGDH	G	55	D	G55D	Pathogenic	1	2	10	47
MUT:L2HGDH:Gly57Arg	PROT:Q9H9P8	L2HGDH	G	57	R	G57R	Pathogenic	1	1	10	45
MUT:L2HGDH:Gly60Arg	PROT:Q9H9P8	L2HGDH	G	60	R	G60R	Pathogenic	1	1	10	42
MUT:L2HGDH:His98Arg	PROT:Q9H9P8	L2HGDH	H	98	R	H98R	Pathogenic/Likely pathogenic	1	1	10	4
MUT:L2HGDH:Leu18Arg	PROT:Q9H9P8	L2HGDH	L	18	R	L18R	Benign/Likely benign	0	1	10	84
MUT:L2HGDH:Lys136Arg	PROT:Q9H9P8	L2HGDH	K	136	R	K136R	Likely pathogenic	1	1	10	19
MUT:L2HGDH:Lys81Glu	PROT:Q9H9P8	L2HGDH	K	81	E	K81E	Pathogenic	1	1	10	21
MUT:L2HGDH:Met1Val	PROT:Q9H9P8	L2HGDH	M	1	V	M1V	Pathogenic	1	1	10	101
MUT:L2HGDH:Pro302Leu	PROT:Q9H9P8	L2HGDH	P	302	L	P302L	Pathogenic/Likely pathogenic	1	1	10	5
MUT:L2HGDH:Ser23Phe	PROT:Q9H9P8	L2HGDH	S	23	F	S23F	Likely benign	0	1	10	79
MUT:L2HGDH:Thr46Ile	PROT:Q9H9P8	L2HGDH	T	46	I	T46I	Likely benign	0	2	10	56
MUT:L2HGDH:Tyr123Cys	PROT:Q9H9P8	L2HGDH	Y	123	C	Y123C	Likely pathogenic	1	1	10	19
MUT:L2HGDH:Tyr195Cys	PROT:Q9H9P8	L2HGDH	Y	195	C	Y195C	Likely pathogenic	1	1	10	22
MUT:L2HGDH:Tyr367Cys	PROT:Q9H9P8	L2HGDH	Y	367	C	Y367C	Benign/Likely benign	0	2	10	70
MUT:LACC1:Met1Ile	PROT:Q8IV20	LACC1	M	1	I	M1I	Pathogenic	1	1	2	17
MUT:LACC1:Tyr52Cys	PROT:Q8IV20	LACC1	Y	52	C	Y52C	Likely benign	0	1	2	34
MUT:LACC1:Val151Ile	PROT:Q8IV20	LACC1	V	151	I	V151I	Likely benign	0	1	2	19
MUT:LACTB:Gly16Arg	PROT:P83111	LACTB	G	16	R	G16R	Benign	0	1	8	10
MUT:LAGE3:Ala31Thr	PROT:Q14657	LAGE3	A	31	T	A31T	Benign	0	1	3	64
MUT:LAGE3:Ile121Thr	PROT:Q14657	LAGE3	I	121	T	I121T	Benign/Likely benign	0	2	3	12
MUT:LAGE3:Phe137Ser	PROT:Q14657	LAGE3	F	137	S	F137S	Pathogenic	1	1	3	5
MUT:LAGE3:Pro60Leu	PROT:Q14657	LAGE3	P	60	L	P60L	Benign	0	1	3	35
MUT:LAGE3:Val106Phe	PROT:Q14657	LAGE3	V	106	F	V106F	Pathogenic	1	1	3	3
MUT:LAGE3:Val131Met	PROT:Q14657	LAGE3	V	131	M	V131M	Benign	0	1	3	11
MUT:LAMA4:Ala125Ser	PROT:Q16363	LAMA4	A	125	S	A125S	Benign/Likely benign	0	2	4	226
MUT:LAMA4:Ala225Pro	PROT:Q16363	LAMA4	A	225	P	A225P	Likely benign	0	1	4	126
MUT:LAMA4:Ala225Val	PROT:Q16363	LAMA4	A	225	V	A225V	Likely benign	0	2	4	126
MUT:LAMA4:Ala333Thr	PROT:Q16363	LAMA4	A	333	T	A333T	Likely benign	0	1	4	18
MUT:LAMA4:Ala41Val	PROT:Q16363	LAMA4	A	41	V	A41V	Likely benign	0	1	4	310
MUT:LAMA4:Arg1080Gln	PROT:Q16363	LAMA4	R	1080	Q	R1080Q	Benign/Likely benign	0	2	4	126
MUT:LAMA4:Arg1103Cys	PROT:Q16363	LAMA4	R	1103	C	R1103C	Likely benign	0	1	4	149
MUT:LAMA4:Arg154Trp	PROT:Q16363	LAMA4	R	154	W	R154W	Benign/Likely benign	0	1	4	197
MUT:LAMA4:Arg1677Cys	PROT:Q16363	LAMA4	R	1677	C	R1677C	Likely benign	0	1	4	48
MUT:LAMA4:Arg214His	PROT:Q16363	LAMA4	R	214	H	R214H	Benign/Likely benign	0	2	4	137
MUT:LAMA4:Arg545Cys	PROT:Q16363	LAMA4	R	545	C	R545C	Benign/Likely benign	0	2	4	194
MUT:LAMA4:Asn1549Ser	PROT:Q16363	LAMA4	N	1549	S	N1549S	Benign/Likely benign	0	1	4	44
MUT:LAMA4:Asp283Ala	PROT:Q16363	LAMA4	D	283	A	D283A	Benign	0	1	4	68
MUT:LAMA4:Asp29Asn	PROT:Q16363	LAMA4	D	29	N	D29N	Likely benign	0	1	4	322
MUT:LAMA4:Asp29His	PROT:Q16363	LAMA4	D	29	H	D29H	Benign/Likely benign	0	1	4	322
MUT:LAMA4:Asp667Tyr	PROT:Q16363	LAMA4	D	667	Y	D667Y	Benign/Likely benign	0	2	4	287
MUT:LAMA4:Gln520His	PROT:Q16363	LAMA4	Q	520	H	Q520H	Likely benign	0	1	4	169
MUT:LAMA4:Glu937Gly	PROT:Q16363	LAMA4	E	937	G	E937G	Benign/Likely benign	0	2	4	17
MUT:LAMA4:Gly1117Ser	PROT:Q16363	LAMA4	G	1117	S	G1117S	Benign	0	1	4	163
MUT:LAMA4:Gly1655Glu	PROT:Q16363	LAMA4	G	1655	E	G1655E	Likely benign	0	1	4	62
MUT:LAMA4:Gly172Ser	PROT:Q16363	LAMA4	G	172	S	G172S	Likely benign	0	2	4	179
MUT:LAMA4:Gly244Arg	PROT:Q16363	LAMA4	G	244	R	G244R	Likely benign	0	2	4	107
MUT:LAMA4:Gly94Ser	PROT:Q16363	LAMA4	G	94	S	G94S	Benign/Likely benign	0	2	4	257
MUT:LAMA4:Ile1817Thr	PROT:Q16363	LAMA4	I	1817	T	I1817T	Benign/Likely benign	0	3	4	92
MUT:LAMA4:Ile663Thr	PROT:Q16363	LAMA4	I	663	T	I663T	Benign/Likely benign	0	1	4	291
MUT:LAMA4:Leu1221Val	PROT:Q16363	LAMA4	L	1221	V	L1221V	Likely benign	0	1	4	267
MUT:LAMA4:Lys275Arg	PROT:Q16363	LAMA4	K	275	R	K275R	Likely benign	0	1	4	76
MUT:LAMA4:Pro1119Arg	PROT:Q16363	LAMA4	P	1119	R	P1119R	Benign/Likely benign	0	1	4	165
MUT:LAMA4:Pro269Gln	PROT:Q16363	LAMA4	P	269	Q	P269Q	Likely benign	0	1	4	82
MUT:LAMA4:Pro269Ser	PROT:Q16363	LAMA4	P	269	S	P269S	Likely benign	0	1	4	82
MUT:LAMA4:Ser1564Ile	PROT:Q16363	LAMA4	S	1564	I	S1564I	Benign/Likely benign	0	2	4	29
MUT:LAMA4:Ser1615Gly	PROT:Q16363	LAMA4	S	1615	G	S1615G	Likely pathogenic	1	1	4	22
MUT:LAMA4:Tyr498His	PROT:Q16363	LAMA4	Y	498	H	Y498H	Benign	0	1	4	147
MUT:LAMA4:Val1815Ile	PROT:Q16363	LAMA4	V	1815	I	V1815I	Benign/Likely benign	0	2	4	90
MUT:LAMA4:Val301Ile	PROT:Q16363	LAMA4	V	301	I	V301I	Likely benign	0	1	4	50
MUT:LAMA4:Val984Ile	PROT:Q16363	LAMA4	V	984	I	V984I	Likely benign	0	1	4	30
MUT:LAMB1:Arg1217Leu	PROT:P07942	LAMB1	R	1217	L	R1217L	Benign/Likely benign	0	1	24	14
MUT:LAMB1:Arg795Trp	PROT:P07942	LAMB1	R	795	W	R795W	Likely pathogenic	1	1	24	436
MUT:LAMB1:Arg853Trp	PROT:P07942	LAMB1	R	853	W	R853W	Likely benign	0	1	24	378
MUT:LAMB1:Asn980His	PROT:P07942	LAMB1	N	980	H	N980H	Likely benign	0	1	24	251
MUT:LAMB1:Asp957Asn	PROT:P07942	LAMB1	D	957	N	D957N	Benign	0	1	24	274
MUT:LAMB1:Cys481Phe	PROT:P07942	LAMB1	C	481	F	C481F	Pathogenic	1	1	24	250
MUT:LAMB1:Gln1074Pro	PROT:P07942	LAMB1	Q	1074	P	Q1074P	Likely benign	0	1	24	157
MUT:LAMB1:Val1346Leu	PROT:P07942	LAMB1	V	1346	L	V1346L	Likely benign	0	1	24	36
MUT:LAMB1:Val670Ala	PROT:P07942	LAMB1	V	670	A	V670A	Benign	0	1	24	439
MUT:LAMB1:Val705Leu	PROT:P07942	LAMB1	V	705	L	V705L	Benign/Likely benign	0	1	24	474
MUT:LAMB3:Ala726Ser	PROT:Q13751	LAMB3	A	726	S	A726S	Likely benign	0	1	12	21
MUT:LAMB3:Ala926Asp	PROT:Q13751	LAMB3	A	926	D	A926D	Benign	0	4	12	27
MUT:LAMB3:Ala926Gly	PROT:Q13751	LAMB3	A	926	G	A926G	Benign	0	1	12	27
MUT:LAMB3:Arg1042Trp	PROT:Q13751	LAMB3	R	1042	W	R1042W	Likely benign	0	2	12	15
MUT:LAMB3:Arg144Gln	PROT:Q13751	LAMB3	R	144	Q	R144Q	Likely benign	0	1	12	3
MUT:LAMB3:Arg164Gln	PROT:Q13751	LAMB3	R	164	Q	R164Q	Likely benign	0	1	12	23
MUT:LAMB3:Arg230Thr	PROT:Q13751	LAMB3	R	230	T	R230T	Benign	0	1	12	42
MUT:LAMB3:Arg23Cys	PROT:Q13751	LAMB3	R	23	C	R23C	Likely benign	0	2	12	28
MUT:LAMB3:Arg245His	PROT:Q13751	LAMB3	R	245	H	R245H	Likely benign	0	1	12	57
MUT:LAMB3:Arg593Gln	PROT:Q13751	LAMB3	R	593	Q	R593Q	Likely benign	0	1	12	112
MUT:LAMB3:Arg618His	PROT:Q13751	LAMB3	R	618	H	R618H	Likely benign	0	1	12	87
MUT:LAMB3:Arg716Gln	PROT:Q13751	LAMB3	R	716	Q	R716Q	Likely benign	0	1	12	11
MUT:LAMB3:Arg754Gln	PROT:Q13751	LAMB3	R	754	Q	R754Q	Likely benign	0	1	12	12
MUT:LAMB3:Arg754Trp	PROT:Q13751	LAMB3	R	754	W	R754W	Benign	0	1	12	12
MUT:LAMB3:Arg817His	PROT:Q13751	LAMB3	R	817	H	R817H	Likely benign	0	1	12	51
MUT:LAMB3:Arg840Gln	PROT:Q13751	LAMB3	R	840	Q	R840Q	Likely benign	0	1	12	74
MUT:LAMB3:Arg848Trp	PROT:Q13751	LAMB3	R	848	W	R848W	Benign	0	1	12	82
MUT:LAMB3:Asn181Asp	PROT:Q13751	LAMB3	N	181	D	N181D	Benign	0	1	12	7
MUT:LAMB3:Asn690Ser	PROT:Q13751	LAMB3	N	690	S	N690S	Benign	0	4	12	15
MUT:LAMB3:Cys293Ser	PROT:Q13751	LAMB3	C	293	S	C293S	Pathogenic/Likely pathogenic	1	1	12	105
MUT:LAMB3:Cys355Arg	PROT:Q13751	LAMB3	C	355	R	C355R	Pathogenic/Likely pathogenic	1	1	12	59
MUT:LAMB3:Gln206Lys	PROT:Q13751	LAMB3	Q	206	K	Q206K	Likely benign	0	1	12	18
MUT:LAMB3:Glu1069Gln	PROT:Q13751	LAMB3	E	1069	Q	E1069Q	Likely benign	0	1	12	15
MUT:LAMB3:Glu210Lys	PROT:Q13751	LAMB3	E	210	K	E210K	Pathogenic/Likely pathogenic	1	2	12	22
MUT:LAMB3:Gly307Asp	PROT:Q13751	LAMB3	G	307	D	G307D	Likely benign	0	1	12	107
MUT:LAMB3:His486Arg	PROT:Q13751	LAMB3	H	486	R	H486R	Likely benign	0	1	12	72
MUT:LAMB3:Leu108Pro	PROT:Q13751	LAMB3	L	108	P	L108P	Pathogenic	1	1	12	33
MUT:LAMB3:Lys207Gln	PROT:Q13751	LAMB3	K	207	Q	K207Q	Pathogenic	1	1	12	19
MUT:LAMB3:Met1Ile	PROT:Q13751	LAMB3	M	1	I	M1I	Likely pathogenic	1	1	12	50
MUT:LAMB3:Met1Leu	PROT:Q13751	LAMB3	M	1	L	M1L	Likely pathogenic	1	1	12	50
MUT:LAMB3:Met852Leu	PROT:Q13751	LAMB3	M	852	L	M852L	Benign	0	12	12	86
MUT:LAMB3:Pro480Leu	PROT:Q13751	LAMB3	P	480	L	P480L	Benign/Likely benign	0	1	12	66
MUT:LAMB3:Ser438Thr	PROT:Q13751	LAMB3	S	438	T	S438T	Benign	0	1	12	24
MUT:LAMB3:Thr908Ile	PROT:Q13751	LAMB3	T	908	I	T908I	Benign/Likely benign	0	1	12	45
MUT:LAMB3:Tyr339His	PROT:Q13751	LAMB3	Y	339	H	Y339H	Benign	0	2	12	75
MUT:LAMB3:Val527Met	PROT:Q13751	LAMB3	V	527	M	V527M	Benign	0	4	12	113
MUT:LAMC1:Arg557Trp	PROT:P11047	LAMC1	R	557	W	R557W	Benign	0	1	23	107
MUT:LAMC1:Lys308Arg	PROT:P11047	LAMC1	K	308	R	K308R	Likely benign	0	1	23	0
MUT:LAMC2:Ala111Pro	PROT:Q13753	LAMC2	A	111	P	A111P	Benign	0	1	5	139
MUT:LAMC2:Arg115Gln	PROT:Q13753	LAMC2	R	115	Q	R115Q	Benign/Likely benign	0	1	5	135
MUT:LAMC2:Arg197Cys	PROT:Q13753	LAMC2	R	197	C	R197C	Likely benign	0	1	5	53
MUT:LAMC2:Arg295Trp	PROT:Q13753	LAMC2	R	295	W	R295W	Likely benign	0	1	5	30
MUT:LAMC2:Arg717Gln	PROT:Q13753	LAMC2	R	717	Q	R717Q	Likely benign	0	1	5	31
MUT:LAMC2:Arg857Pro	PROT:Q13753	LAMC2	R	857	P	R857P	Benign/Likely benign	0	2	5	120
MUT:LAMC2:Asp136Val	PROT:Q13753	LAMC2	D	136	V	D136V	Benign	0	2	5	114
MUT:LAMC2:Asp247Glu	PROT:Q13753	LAMC2	D	247	E	D247E	Benign	0	1	5	3
MUT:LAMC2:Gly1012Arg	PROT:Q13753	LAMC2	G	1012	R	G1012R	Likely benign	0	1	5	25
MUT:LAMC2:Gly1104Ser	PROT:Q13753	LAMC2	G	1104	S	G1104S	Likely benign	0	1	5	117
MUT:LAMC2:Gly127Trp	PROT:Q13753	LAMC2	G	127	W	G127W	Pathogenic	1	1	5	123
MUT:LAMC2:Gly421Glu	PROT:Q13753	LAMC2	G	421	E	G421E	Likely benign	0	2	5	156
MUT:LAMC2:Gly7Ser	PROT:Q13753	LAMC2	G	7	S	G7S	Likely benign	0	1	5	243
MUT:LAMC2:Leu1113Val	PROT:Q13753	LAMC2	L	1113	V	L1113V	Likely benign	0	1	5	126
MUT:LAMC2:Leu679Phe	PROT:Q13753	LAMC2	L	679	F	L679F	Benign	0	1	5	7
MUT:LAMC2:Met1Ile	PROT:Q13753	LAMC2	M	1	I	M1I	Likely pathogenic	1	1	5	249
MUT:LAMC2:Pro808Ala	PROT:Q13753	LAMC2	P	808	A	P808A	Benign/Likely benign	0	1	5	122
MUT:LAMC2:Ser733Thr	PROT:Q13753	LAMC2	S	733	T	S733T	Benign	0	3	5	47
MUT:LAMC2:Thr1069Met	PROT:Q13753	LAMC2	T	1069	M	T1069M	Benign/Likely benign	0	1	5	82
MUT:LAMC2:Thr124Met	PROT:Q13753	LAMC2	T	124	M	T124M	Benign	0	3	5	126
MUT:LAMC2:Thr647Ala	PROT:Q13753	LAMC2	T	647	A	T647A	Likely benign	0	1	5	39
MUT:LAMC3:Arg1459Gln	PROT:Q9Y6N6	LAMC3	R	1459	Q	R1459Q	Benign	0	1	2	181
MUT:LAMC3:Arg152Cys	PROT:Q9Y6N6	LAMC3	R	152	C	R152C	Benign	0	1	2	3
MUT:LAMC3:Arg173Trp	PROT:Q9Y6N6	LAMC3	R	173	W	R173W	Benign/Likely benign	0	1	2	24
MUT:LAMC3:Arg655Gln	PROT:Q9Y6N6	LAMC3	R	655	Q	R655Q	Likely benign	0	1	2	506
MUT:LAMC3:Arg770Gly	PROT:Q9Y6N6	LAMC3	R	770	G	R770G	Benign	0	1	2	508
MUT:LAMC3:Gln368Arg	PROT:Q9Y6N6	LAMC3	Q	368	R	Q368R	Likely benign	0	1	2	219
MUT:LAMC3:Glu302Lys	PROT:Q9Y6N6	LAMC3	E	302	K	E302K	Likely benign	0	1	2	153
MUT:LAMC3:Glu544Gly	PROT:Q9Y6N6	LAMC3	E	544	G	E544G	Benign	0	1	2	395
MUT:LAMC3:Gly281Asp	PROT:Q9Y6N6	LAMC3	G	281	D	G281D	Likely benign	0	1	2	132
MUT:LAMC3:Gly598Arg	PROT:Q9Y6N6	LAMC3	G	598	R	G598R	Benign/Likely benign	0	1	2	449
MUT:LAMC3:Gly699Asp	PROT:Q9Y6N6	LAMC3	G	699	D	G699D	Benign/Likely benign	0	1	2	550
MUT:LAMC3:His1498Arg	PROT:Q9Y6N6	LAMC3	H	1498	R	H1498R	Likely benign	0	1	2	220
MUT:LAMC3:His73Gln	PROT:Q9Y6N6	LAMC3	H	73	Q	H73Q	Benign	0	1	2	76
MUT:LAMC3:Pro174His	PROT:Q9Y6N6	LAMC3	P	174	H	P174H	Benign	0	1	2	25
MUT:LAMC3:Pro522Ser	PROT:Q9Y6N6	LAMC3	P	522	S	P522S	Benign	0	1	2	373
MUT:LAMC3:Ser1082Gly	PROT:Q9Y6N6	LAMC3	S	1082	G	S1082G	Benign	0	1	2	196
MUT:LAMC3:Ser1124Phe	PROT:Q9Y6N6	LAMC3	S	1124	F	S1124F	Benign/Likely benign	0	2	2	154
MUT:LAMC3:Ser1521Ala	PROT:Q9Y6N6	LAMC3	S	1521	A	S1521A	Benign/Likely benign	0	1	2	243
MUT:LAMC3:Ser813Arg	PROT:Q9Y6N6	LAMC3	S	813	R	S813R	Benign/Likely benign	0	1	2	465
MUT:LAMC3:Thr1433Met	PROT:Q9Y6N6	LAMC3	T	1433	M	T1433M	Benign	0	1	2	155
MUT:LAMP2:Ala100Val	PROT:P13473	LAMP2	A	100	V	A100V	Benign/Likely benign	0	1	8	111
MUT:LAMP2:Ala380Val	PROT:P13473	LAMP2	A	380	V	A380V	Likely benign	0	1	8	71
MUT:LAMP2:Arg266His	PROT:P13473	LAMP2	R	266	H	R266H	Benign/Likely benign	0	1	8	1
MUT:LAMP2:Arg53Cys	PROT:P13473	LAMP2	R	53	C	R53C	Benign/Likely benign	0	2	8	158
MUT:LAMP2:Gln178Arg	PROT:P13473	LAMP2	Q	178	R	Q178R	Likely benign	0	1	8	33
MUT:LAMP2:Ile252Ser	PROT:P13473	LAMP2	I	252	S	I252S	Benign/Likely benign	0	2	8	15
MUT:LAMP2:Ile78Val	PROT:P13473	LAMP2	I	78	V	I78V	Likely benign	0	1	8	133
MUT:LAMP2:Met1Ile	PROT:P13473	LAMP2	M	1	I	M1I	Likely pathogenic	1	1	8	210
MUT:LAMP2:Met1Leu	PROT:P13473	LAMP2	M	1	L	M1L	Pathogenic/Likely pathogenic	1	1	8	210
MUT:LAMP2:Met1Thr	PROT:P13473	LAMP2	M	1	T	M1T	Likely pathogenic	1	1	8	210
MUT:LAMP2:Met303Leu	PROT:P13473	LAMP2	M	303	L	M303L	Likely benign	0	1	8	1
MUT:LAMP2:Thr364Ile	PROT:P13473	LAMP2	T	364	I	T364I	Likely benign	0	1	8	55
MUT:LAMP2:Thr71Ser	PROT:P13473	LAMP2	T	71	S	T71S	Likely benign	0	1	8	140
MUT:LAMP2:Val310Ile	PROT:P13473	LAMP2	V	310	I	V310I	Pathogenic	1	2	8	1
MUT:LAMP2:Val310Leu	PROT:P13473	LAMP2	V	310	L	V310L	Pathogenic	1	2	8	1
MUT:LAMP2:Val310Phe	PROT:P13473	LAMP2	V	310	F	V310F	Pathogenic	1	2	8	1
MUT:LAMP2:Val388Leu	PROT:P13473	LAMP2	V	388	L	V388L	Benign	0	1	8	79
MUT:LARP4B:Val449Phe	PROT:Q92615	LARP4B	V	449	F	V449F	Likely pathogenic	1	1	42	2
MUT:LARS1:Arg308His	PROT:Q9P2J5	LARS1	R	308	H	R308H	Likely benign	0	1	42	15
MUT:LARS1:Cys248Phe	PROT:Q9P2J5	LARS1	C	248	F	C248F	Likely pathogenic	1	1	42	30
MUT:LARS1:Ile451Phe	PROT:Q9P2J5	LARS1	I	451	F	I451F	Likely pathogenic	1	1	42	8
MUT:LARS1:Leu37Val	PROT:Q9P2J5	LARS1	L	37	V	L37V	Benign/Likely benign	0	1	42	2
MUT:LARS1:Lys1155Glu	PROT:Q9P2J5	LARS1	K	1155	E	K1155E	Likely benign	0	1	42	1
MUT:LARS1:Lys82Arg	PROT:Q9P2J5	LARS1	K	82	R	K82R	Benign	0	1	42	0
MUT:LARS1:Tyr373Cys	PROT:Q9P2J5	LARS1	Y	373	C	Y373C	Pathogenic	1	1	42	6
MUT:LARS1:Tyr835Cys	PROT:Q9P2J5	LARS1	Y	835	C	Y835C	Pathogenic	1	1	42	92
MUT:LARS2:Ala130Thr	PROT:Q15031	LARS2	A	130	T	A130T	Likely pathogenic	1	1	9	42
MUT:LARS2:Ala430Val	PROT:Q15031	LARS2	A	430	V	A430V	Pathogenic	1	1	9	1
MUT:LARS2:Arg103His	PROT:Q15031	LARS2	R	103	H	R103H	Likely pathogenic	1	1	9	15
MUT:LARS2:Arg228His	PROT:Q15031	LARS2	R	228	H	R228H	Likely pathogenic	1	2	9	8
MUT:LARS2:Arg663Trp	PROT:Q15031	LARS2	R	663	W	R663W	Pathogenic/Likely pathogenic	1	1	9	27
MUT:LARS2:Asn124Ile	PROT:Q15031	LARS2	N	124	I	N124I	Pathogenic	1	1	9	36
MUT:LARS2:Asn153His	PROT:Q15031	LARS2	N	153	H	N153H	Pathogenic/Likely pathogenic	1	3	9	65
MUT:LARS2:Asp438Gly	PROT:Q15031	LARS2	D	438	G	D438G	Likely pathogenic	1	1	9	9
MUT:LARS2:Gln121Arg	PROT:Q15031	LARS2	Q	121	R	Q121R	Benign/Likely benign	0	3	9	33
MUT:LARS2:Gln147Pro	PROT:Q15031	LARS2	Q	147	P	Q147P	Likely pathogenic	1	2	9	59
MUT:LARS2:Glu294Lys	PROT:Q15031	LARS2	E	294	K	E294K	Pathogenic/Likely pathogenic	1	2	9	21
MUT:LARS2:Glu638Lys	PROT:Q15031	LARS2	E	638	K	E638K	Pathogenic	1	1	9	2
MUT:LARS2:Glu831Asp	PROT:Q15031	LARS2	E	831	D	E831D	Benign	0	2	9	195
MUT:LARS2:Glu868Lys	PROT:Q15031	LARS2	E	868	K	E868K	Benign/Likely benign	0	2	9	232
MUT:LARS2:Ile265Met	PROT:Q15031	LARS2	I	265	M	I265M	Likely pathogenic	1	1	9	29
MUT:LARS2:Ile360Thr	PROT:Q15031	LARS2	I	360	T	I360T	Likely pathogenic	1	2	9	17
MUT:LARS2:Ile398Thr	PROT:Q15031	LARS2	I	398	T	I398T	Likely pathogenic	1	1	9	31
MUT:LARS2:Lys727Asn	PROT:Q15031	LARS2	K	727	N	K727N	Benign	0	1	9	91
MUT:LARS2:Met417Val	PROT:Q15031	LARS2	M	417	V	M417V	Pathogenic/Likely pathogenic	1	1	9	12
MUT:LARS2:Pro507Arg	PROT:Q15031	LARS2	P	507	R	P507R	Likely pathogenic	1	1	9	78
MUT:LARS2:Pro536Leu	PROT:Q15031	LARS2	P	536	L	P536L	Likely pathogenic	1	2	9	75
MUT:LARS2:Pro712Ser	PROT:Q15031	LARS2	P	712	S	P712S	Likely pathogenic	1	1	9	76
MUT:LARS2:Thr522Asn	PROT:Q15031	LARS2	T	522	N	T522N	Pathogenic/Likely pathogenic	1	7	9	89
MUT:LARS2:Thr629Met	PROT:Q15031	LARS2	T	629	M	T629M	Pathogenic/Likely pathogenic	1	3	9	1
MUT:LARS2:Thr700Ile	PROT:Q15031	LARS2	T	700	I	T700I	Likely pathogenic	1	1	9	64
MUT:LARS2:Tyr557Cys	PROT:Q15031	LARS2	Y	557	C	Y557C	Pathogenic	1	1	9	54
MUT:LAS1L:Ala269Gly	PROT:Q9Y4W2	LAS1L	A	269	G	A269G	Pathogenic	1	1	43	6
MUT:LAS1L:Arg415Trp	PROT:Q9Y4W2	LAS1L	R	415	W	R415W	Pathogenic/Likely pathogenic	1	2	43	3
MUT:LAS1L:Gln639Arg	PROT:Q9Y4W2	LAS1L	Q	639	R	Q639R	Likely benign	0	1	43	20
MUT:LAS1L:Gly413Arg	PROT:Q9Y4W2	LAS1L	G	413	R	G413R	Likely pathogenic	1	1	43	1
MUT:LAS1L:His255Tyr	PROT:Q9Y4W2	LAS1L	H	255	Y	H255Y	Benign	0	1	43	2
MUT:LAS1L:Ser477Asn	PROT:Q9Y4W2	LAS1L	S	477	N	S477N	Likely pathogenic	1	1	43	0
MUT:LAS1L:Ser5Thr	PROT:Q9Y4W2	LAS1L	S	5	T	S5T	Likely benign	0	1	43	59
MUT:LAS1L:Thr236Met	PROT:Q9Y4W2	LAS1L	T	236	M	T236M	Benign	0	1	43	1
MUT:LAS1L:Val372Ile	PROT:Q9Y4W2	LAS1L	V	372	I	V372I	Benign	0	1	43	4
MUT:LAS1L:Val564Ala	PROT:Q9Y4W2	LAS1L	V	564	A	V564A	Likely benign	0	1	43	1
MUT:LBR:Ala189Thr	PROT:Q14739	LBR	A	189	T	A189T	Likely benign	0	1	42	1
MUT:LBR:Ala332Val	PROT:Q14739	LBR	A	332	V	A332V	Benign/Likely benign	0	1	42	25
MUT:LBR:Ala510Thr	PROT:Q14739	LBR	A	510	T	A510T	Benign/Likely benign	0	2	42	6
MUT:LBR:Arg111Lys	PROT:Q14739	LBR	R	111	K	R111K	Likely benign	0	1	42	4
MUT:LBR:Arg512Gln	PROT:Q14739	LBR	R	512	Q	R512Q	Pathogenic/Likely pathogenic	1	4	42	4
MUT:LBR:Arg512Trp	PROT:Q14739	LBR	R	512	W	R512W	Likely pathogenic	1	1	42	4
MUT:LBR:Arg583Gln	PROT:Q14739	LBR	R	583	Q	R583Q	Pathogenic	1	1	42	11
MUT:LBR:Arg583Leu	PROT:Q14739	LBR	R	583	L	R583L	Pathogenic	1	1	42	11
MUT:LBR:Arg586His	PROT:Q14739	LBR	R	586	H	R586H	Pathogenic/Likely pathogenic	1	4	42	8
MUT:LBR:Asn547Asp	PROT:Q14739	LBR	N	547	D	N547D	Pathogenic/Likely pathogenic	1	2	42	23
MUT:LBR:Asn547Ser	PROT:Q14739	LBR	N	547	S	N547S	Pathogenic/Likely pathogenic	1	7	42	23
MUT:LBR:Asp460Gly	PROT:Q14739	LBR	D	460	G	D460G	Pathogenic	1	1	42	56
MUT:LBR:Gly392Arg	PROT:Q14739	LBR	G	392	R	G392R	Likely pathogenic	1	1	42	35
MUT:LBR:His320Arg	PROT:Q14739	LBR	H	320	R	H320R	Benign/Likely benign	0	1	42	37
MUT:LBR:Ile467Phe	PROT:Q14739	LBR	I	467	F	I467F	Likely benign	0	2	42	49
MUT:LBR:Met578Val	PROT:Q14739	LBR	M	578	V	M578V	Likely benign	0	1	42	16
MUT:LBR:Pro569Arg	PROT:Q14739	LBR	P	569	R	P569R	Pathogenic	1	1	42	25
MUT:LBR:Ser154Asn	PROT:Q14739	LBR	S	154	N	S154N	Benign	0	3	42	0
MUT:LBR:Val317Ile	PROT:Q14739	LBR	V	317	I	V317I	Likely benign	0	1	42	40
MUT:LCAT:Arg123Cys	PROT:P04180	LCAT	R	123	C	R123C	Likely pathogenic	1	3	2	82
MUT:LCAT:Arg159Trp	PROT:P04180	LCAT	R	159	W	R159W	Likely pathogenic	1	1	2	46
MUT:LCAT:Arg268Cys	PROT:P04180	LCAT	R	268	C	R268C	Likely pathogenic	1	1	2	63
MUT:LCAT:Asn155Asp	PROT:P04180	LCAT	N	155	D	N155D	Pathogenic	1	1	2	50
MUT:LCAT:Asn252Lys	PROT:P04180	LCAT	N	252	K	N252K	Pathogenic	1	1	2	47
MUT:LCAT:Glu378Lys	PROT:P04180	LCAT	E	378	K	E378K	Benign/Likely benign	0	1	2	2
MUT:LCAT:Gly54Ser	PROT:P04180	LCAT	G	54	S	G54S	Likely pathogenic	1	1	2	151
MUT:LCAT:Leu233Pro	PROT:P04180	LCAT	L	233	P	L233P	Pathogenic	1	1	2	28
MUT:LCAT:Met276Lys	PROT:P04180	LCAT	M	276	K	M276K	Pathogenic	1	1	2	71
MUT:LCAT:Met317Ile	PROT:P04180	LCAT	M	317	I	M317I	Pathogenic	1	1	2	59
MUT:LCAT:Met404Val	PROT:P04180	LCAT	M	404	V	M404V	Pathogenic	1	1	2	28
MUT:LCAT:Pro34Leu	PROT:P04180	LCAT	P	34	L	P34L	Pathogenic	1	1	2	171
MUT:LCAT:Ser232Thr	PROT:P04180	LCAT	S	232	T	S232T	Benign/Likely benign	0	2	2	27
MUT:LCAT:Thr147Ile	PROT:P04180	LCAT	T	147	I	T147I	Pathogenic	1	2	2	58
MUT:LCAT:Thr345Met	PROT:P04180	LCAT	T	345	M	T345M	Pathogenic/Likely pathogenic	1	1	2	31
MUT:LCAT:Trp170Arg	PROT:P04180	LCAT	W	170	R	W170R	Pathogenic	1	1	2	35
MUT:LCAT:Val114Met	PROT:P04180	LCAT	V	114	M	V114M	Benign/Likely benign	0	1	2	91
MUT:LCAT:Val333Met	PROT:P04180	LCAT	V	333	M	V333M	Pathogenic	1	1	2	43
MUT:LCK:Ala58Val	PROT:P06239	LCK	A	58	V	A58V	Likely benign	0	1	35	1
MUT:LCK:Arg45Gln	PROT:P06239	LCK	R	45	Q	R45Q	Benign/Likely benign	0	1	35	3
MUT:LCK:Cys465Arg	PROT:P06239	LCK	C	465	R	C465R	Pathogenic	1	1	35	40
MUT:LCK:Leu341Pro	PROT:P06239	LCK	L	341	P	L341P	Pathogenic	1	1	35	6
MUT:LCK:Pro440Ser	PROT:P06239	LCK	P	440	S	P440S	Pathogenic	1	1	35	35
MUT:LCK:Ser54Cys	PROT:P06239	LCK	S	54	C	S54C	Benign/Likely benign	0	1	35	5
MUT:LCK:Ser94Asn	PROT:P06239	LCK	S	94	N	S94N	Likely benign	0	2	35	0
MUT:LCT:Ala11Val	PROT:P09848	LCT	A	11	V	A11V	Likely benign	0	1	5	709
MUT:LCT:Ala152Thr	PROT:P09848	LCT	A	152	T	A152T	Benign/Likely benign	0	1	5	568
MUT:LCT:Arg1254Leu	PROT:P09848	LCT	R	1254	L	R1254L	Likely pathogenic	1	1	5	49
MUT:LCT:Arg1455Cys	PROT:P09848	LCT	R	1455	C	R1455C	Likely pathogenic	1	1	5	142
MUT:LCT:Asn1639Ser	PROT:P09848	LCT	N	1639	S	N1639S	Benign	0	1	5	69
MUT:LCT:Asp905Gly	PROT:P09848	LCT	D	905	G	D905G	Benign/Likely benign	0	2	5	69
MUT:LCT:Gln268His	PROT:P09848	LCT	Q	268	H	Q268H	Pathogenic	1	1	5	452
MUT:LCT:Gly1363Ser	PROT:P09848	LCT	G	1363	S	G1363S	Likely pathogenic	1	1	5	50
MUT:LCT:Ile362Val	PROT:P09848	LCT	I	362	V	I362V	Benign	0	1	5	358
MUT:LCT:Met1245Leu	PROT:P09848	LCT	M	1245	L	M1245L	Likely benign	0	1	5	58
MUT:LCT:Pro1923Gln	PROT:P09848	LCT	P	1923	Q	P1923Q	Benign/Likely benign	0	1	5	215
MUT:LCT:Ser101Gly	PROT:P09848	LCT	S	101	G	S101G	Benign	0	1	5	619
MUT:LCT:Ser1650Arg	PROT:P09848	LCT	S	1650	R	S1650R	Likely pathogenic	1	1	5	58
MUT:LCT:Thr1283Met	PROT:P09848	LCT	T	1283	M	T1283M	Likely benign	0	1	5	20
MUT:LCT:Val1097Ile	PROT:P09848	LCT	V	1097	I	V1097I	Likely benign	0	1	5	123
MUT:LCT:Val1593Met	PROT:P09848	LCT	V	1593	M	V1593M	Benign/Likely benign	0	1	5	115
MUT:LCT:Val219Ile	PROT:P09848	LCT	V	219	I	V219I	Benign	0	1	5	501
MUT:LCT:Val440Ile	PROT:P09848	LCT	V	440	I	V440I	Benign	0	1	5	280
MUT:LDB1:Arg121Trp	PROT:Q86U70	LDB1	R	121	W	R121W	Likely pathogenic	1	1	8	45
MUT:LDB1:Arg193Trp	PROT:Q86U70	LDB1	R	193	W	R193W	Likely pathogenic	1	1	8	68
MUT:LDB1:Thr359Pro	PROT:Q86U70	LDB1	T	359	P	T359P	Likely pathogenic	1	1	8	29
MUT:LDB3:Ala147Thr	PROT:O75112	LDB3	A	147	T	A147T	Pathogenic/Likely pathogenic	1	2	8	18
MUT:LDB3:Ala156Thr	PROT:O75112	LDB3	A	156	T	A156T	Benign/Likely benign	0	2	8	15
MUT:LDB3:Ala165Val	PROT:O75112	LDB3	A	165	V	A165V	Pathogenic/Likely pathogenic	1	6	8	6
MUT:LDB3:Ala166Asp	PROT:O75112	LDB3	A	166	D	A166D	Likely benign	0	1	8	5
MUT:LDB3:Ala348Thr	PROT:O75112	LDB3	A	348	T	A348T	Likely benign	0	1	8	102
MUT:LDB3:Ala434Pro	PROT:O75112	LDB3	A	434	P	A434P	Benign/Likely benign	0	2	8	188
MUT:LDB3:Arg165Trp	PROT:O75112	LDB3	R	165	W	R165W	Benign/Likely benign	0	2	8	6
MUT:LDB3:Arg193Lys	PROT:O75112	LDB3	R	193	K	R193K	Likely benign	0	1	8	3
MUT:LDB3:Arg487His	PROT:O75112	LDB3	R	487	H	R487H	Benign/Likely benign	0	2	8	241
MUT:LDB3:Asp108Ala	PROT:O75112	LDB3	D	108	A	D108A	Likely benign	0	1	8	21
MUT:LDB3:Asp240Asn	PROT:O75112	LDB3	D	240	N	D240N	Likely pathogenic	1	1	8	3
MUT:LDB3:Asp359Asn	PROT:O75112	LDB3	D	359	N	D359N	Likely benign	0	2	8	113
MUT:LDB3:Gln212Leu	PROT:O75112	LDB3	Q	212	L	Q212L	Likely benign	0	1	8	5
MUT:LDB3:Glu157Gly	PROT:O75112	LDB3	E	157	G	E157G	Likely benign	0	1	8	14
MUT:LDB3:Glu175Lys	PROT:O75112	LDB3	E	175	K	E175K	Likely benign	0	1	8	4
MUT:LDB3:Gly162Asp	PROT:O75112	LDB3	G	162	D	G162D	Likely benign	0	1	8	9
MUT:LDB3:Lys251Arg	PROT:O75112	LDB3	K	251	R	K251R	Benign/Likely benign	0	3	8	5
MUT:LDB3:Phe575Ile	PROT:O75112	LDB3	F	575	I	F575I	Pathogenic	1	1	8	329
MUT:LDB3:Phe606Leu	PROT:O75112	LDB3	F	606	L	F606L	Pathogenic	1	1	8	360
MUT:LDB3:Pro101Leu	PROT:O75112	LDB3	P	101	L	P101L	Benign/Likely benign	0	2	8	28
MUT:LDB3:Pro109Ser	PROT:O75112	LDB3	P	109	S	P109S	Likely benign	0	1	8	20
MUT:LDB3:Pro149Ser	PROT:O75112	LDB3	P	149	S	P149S	Likely benign	0	1	8	20
MUT:LDB3:Pro187Leu	PROT:O75112	LDB3	P	187	L	P187L	Benign/Likely benign	0	1	8	3
MUT:LDB3:Pro455Leu	PROT:O75112	LDB3	P	455	L	P455L	Likely benign	0	1	8	209
MUT:LDB3:Pro481Arg	PROT:O75112	LDB3	P	481	R	P481R	Benign/Likely benign	0	1	8	235
MUT:LDB3:Pro99Ser	PROT:O75112	LDB3	P	99	S	P99S	Benign/Likely benign	0	1	8	30
MUT:LDB3:Ser167Asn	PROT:O75112	LDB3	S	167	N	S167N	Likely benign	0	1	8	4
MUT:LDB3:Ser231Arg	PROT:O75112	LDB3	S	231	R	S231R	Likely benign	0	1	8	12
MUT:LDB3:Ser231Ile	PROT:O75112	LDB3	S	231	I	S231I	Likely benign	0	1	8	12
MUT:LDB3:Ser349Thr	PROT:O75112	LDB3	S	349	T	S349T	Likely benign	0	2	8	103
MUT:LDB3:Ser369Gly	PROT:O75112	LDB3	S	369	G	S369G	Likely benign	0	1	8	123
MUT:LDB3:Ser432Pro	PROT:O75112	LDB3	S	432	P	S432P	Benign	0	1	8	186
MUT:LDB3:Ser440Pro	PROT:O75112	LDB3	S	440	P	S440P	Benign/Likely benign	0	1	8	194
MUT:LDB3:Thr206Ala	PROT:O75112	LDB3	T	206	A	T206A	Likely benign	0	1	8	4
MUT:LDB3:Tyr195Cys	PROT:O75112	LDB3	Y	195	C	Y195C	Likely benign	0	1	8	5
MUT:LDB3:Tyr521Cys	PROT:O75112	LDB3	Y	521	C	Y521C	Likely benign	0	1	8	275
MUT:LDB3:Val118Met	PROT:O75112	LDB3	V	118	M	V118M	Benign/Likely benign	0	3	8	11
MUT:LDB3:Val55Ile	PROT:O75112	LDB3	V	55	I	V55I	Benign/Likely benign	0	3	8	74
MUT:LDB3:Val635Ile	PROT:O75112	LDB3	V	635	I	V635I	Benign	0	2	8	389
MUT:LDHA:Asp82Asn	PROT:P00338	LDHA	D	82	N	D82N	Likely pathogenic	1	1	35	1
MUT:LDHA:Gly203Ala	PROT:P00338	LDHA	G	203	A	G203A	Benign	0	2	35	21
MUT:LDHB:Arg158Cys	PROT:P07195	LDHB	R	158	C	R158C	Likely benign	0	2	44	2
MUT:LDLR:Ala151Thr	PROT:P01130	LDLR	A	151	T	A151T	Likely benign	0	1	19	41
MUT:LDLR:Ala18Val	PROT:P01130	LDLR	A	18	V	A18V	Likely benign	0	1	19	20
MUT:LDLR:Ala391Thr	PROT:P01130	LDLR	A	391	T	A391T	Benign	0	2	19	1
MUT:LDLR:Ala399Asp	PROT:P01130	LDLR	A	399	D	A399D	Likely pathogenic	1	2	19	2
MUT:LDLR:Ala399Ser	PROT:P01130	LDLR	A	399	S	A399S	Likely pathogenic	1	2	19	2
MUT:LDLR:Ala399Thr	PROT:P01130	LDLR	A	399	T	A399T	Likely pathogenic	1	2	19	2
MUT:LDLR:Ala431Gly	PROT:P01130	LDLR	A	431	G	A431G	Likely pathogenic	1	1	19	27
MUT:LDLR:Ala431Pro	PROT:P01130	LDLR	A	431	P	A431P	Likely pathogenic	1	2	19	27
MUT:LDLR:Ala431Thr	PROT:P01130	LDLR	A	431	T	A431T	Pathogenic	1	4	19	27
MUT:LDLR:Ala459Gly	PROT:P01130	LDLR	A	459	G	A459G	Likely benign	0	1	19	11
MUT:LDLR:Ala480Pro	PROT:P01130	LDLR	A	480	P	A480P	Likely pathogenic	1	1	19	10
MUT:LDLR:Ala480Ser	PROT:P01130	LDLR	A	480	S	A480S	Likely pathogenic	1	1	19	10
MUT:LDLR:Ala480Thr	PROT:P01130	LDLR	A	480	T	A480T	Likely pathogenic	1	2	19	10
MUT:LDLR:Ala480Val	PROT:P01130	LDLR	A	480	V	A480V	Pathogenic	1	1	19	10
MUT:LDLR:Ala501Glu	PROT:P01130	LDLR	A	501	E	A501E	Pathogenic/Likely pathogenic	1	2	19	16
MUT:LDLR:Ala501Thr	PROT:P01130	LDLR	A	501	T	A501T	Likely pathogenic	1	1	19	16
MUT:LDLR:Ala501Val	PROT:P01130	LDLR	A	501	V	A501V	Pathogenic/Likely pathogenic	1	2	19	16
MUT:LDLR:Ala521Ser	PROT:P01130	LDLR	A	521	S	A521S	Likely pathogenic	1	1	19	4
MUT:LDLR:Ala521Val	PROT:P01130	LDLR	A	521	V	A521V	Likely pathogenic	1	1	19	4
MUT:LDLR:Ala540Ser	PROT:P01130	LDLR	A	540	S	A540S	Likely pathogenic	1	1	19	23
MUT:LDLR:Ala540Thr	PROT:P01130	LDLR	A	540	T	A540T	Pathogenic	1	3	19	23
MUT:LDLR:Ala540Val	PROT:P01130	LDLR	A	540	V	A540V	Likely pathogenic	1	1	19	23
MUT:LDLR:Ala627Asp	PROT:P01130	LDLR	A	627	D	A627D	Pathogenic/Likely pathogenic	1	2	19	24
MUT:LDLR:Ala627Thr	PROT:P01130	LDLR	A	627	T	A627T	Pathogenic/Likely pathogenic	1	2	19	24
MUT:LDLR:Ala627Val	PROT:P01130	LDLR	A	627	V	A627V	Likely pathogenic	1	2	19	24
MUT:LDLR:Ala631Asp	PROT:P01130	LDLR	A	631	D	A631D	Likely pathogenic	1	1	19	28
MUT:LDLR:Ala697Pro	PROT:P01130	LDLR	A	697	P	A697P	Likely pathogenic	1	2	19	16
MUT:LDLR:Ala705Val	PROT:P01130	LDLR	A	705	V	A705V	Likely pathogenic	1	1	19	8
MUT:LDLR:Arg115Cys	PROT:P01130	LDLR	R	115	C	R115C	Likely pathogenic	1	3	19	5
MUT:LDLR:Arg124Gly	PROT:P01130	LDLR	R	124	G	R124G	Likely benign	0	1	19	14
MUT:LDLR:Arg183His	PROT:P01130	LDLR	R	183	H	R183H	Benign	0	1	19	73
MUT:LDLR:Arg215Ser	PROT:P01130	LDLR	R	215	S	R215S	Likely pathogenic	1	1	19	105
MUT:LDLR:Arg300Gly	PROT:P01130	LDLR	R	300	G	R300G	Likely pathogenic	1	2	19	90
MUT:LDLR:Arg350Pro	PROT:P01130	LDLR	R	350	P	R350P	Likely pathogenic	1	2	19	40
MUT:LDLR:Arg406Gln	PROT:P01130	LDLR	R	406	Q	R406Q	Likely pathogenic	1	2	19	2
MUT:LDLR:Arg406Pro	PROT:P01130	LDLR	R	406	P	R406P	Likely pathogenic	1	1	19	2
MUT:LDLR:Arg406Trp	PROT:P01130	LDLR	R	406	W	R406W	Pathogenic	1	4	19	2
MUT:LDLR:Arg410Gly	PROT:P01130	LDLR	R	410	G	R410G	Pathogenic	1	1	19	6
MUT:LDLR:Arg416Gln	PROT:P01130	LDLR	R	416	Q	R416Q	Pathogenic/Likely pathogenic	1	3	19	12
MUT:LDLR:Arg416Leu	PROT:P01130	LDLR	R	416	L	R416L	Likely pathogenic	1	3	19	12
MUT:LDLR:Arg416Pro	PROT:P01130	LDLR	R	416	P	R416P	Likely pathogenic	1	2	19	12
MUT:LDLR:Arg416Trp	PROT:P01130	LDLR	R	416	W	R416W	Pathogenic/Likely pathogenic	1	4	19	12
MUT:LDLR:Arg471Gly	PROT:P01130	LDLR	R	471	G	R471G	Likely benign	0	1	19	1
MUT:LDLR:Arg520Gly	PROT:P01130	LDLR	R	520	G	R520G	Pathogenic/Likely pathogenic	1	1	19	3
MUT:LDLR:Arg574His	PROT:P01130	LDLR	R	574	H	R574H	Likely pathogenic	1	3	19	22
MUT:LDLR:Arg595Gln	PROT:P01130	LDLR	R	595	Q	R595Q	Pathogenic	1	4	19	1
MUT:LDLR:Arg595Leu	PROT:P01130	LDLR	R	595	L	R595L	Likely pathogenic	1	1	19	1
MUT:LDLR:Arg595Trp	PROT:P01130	LDLR	R	595	W	R595W	Pathogenic	1	3	19	1
MUT:LDLR:Arg633Cys	PROT:P01130	LDLR	R	633	C	R633C	Pathogenic	1	4	19	30
MUT:LDLR:Arg633His	PROT:P01130	LDLR	R	633	H	R633H	Pathogenic	1	3	19	30
MUT:LDLR:Arg633Leu	PROT:P01130	LDLR	R	633	L	R633L	Likely pathogenic	1	2	19	30
MUT:LDLR:Arg744Gln	PROT:P01130	LDLR	R	744	Q	R744Q	Likely benign	0	2	19	14
MUT:LDLR:Arg751Trp	PROT:P01130	LDLR	R	751	W	R751W	Likely benign	0	2	19	21
MUT:LDLR:Arg81Cys	PROT:P01130	LDLR	R	81	C	R81C	Likely pathogenic	1	4	19	29
MUT:LDLR:Arg81Leu	PROT:P01130	LDLR	R	81	L	R81L	Likely pathogenic	1	2	19	29
MUT:LDLR:Arg88Gly	PROT:P01130	LDLR	R	88	G	R88G	Pathogenic	1	1	19	22
MUT:LDLR:Arg88Lys	PROT:P01130	LDLR	R	88	K	R88K	Pathogenic	1	1	19	22
MUT:LDLR:Asn169Ile	PROT:P01130	LDLR	N	169	I	N169I	Likely pathogenic	1	1	19	59
MUT:LDLR:Asn370Ile	PROT:P01130	LDLR	N	370	I	N370I	Likely pathogenic	1	1	19	20
MUT:LDLR:Asn370Thr	PROT:P01130	LDLR	N	370	T	N370T	Pathogenic/Likely pathogenic	1	2	19	20
MUT:LDLR:Asn405Lys	PROT:P01130	LDLR	N	405	K	N405K	Pathogenic/Likely pathogenic	1	2	19	1
MUT:LDLR:Asn439Tyr	PROT:P01130	LDLR	N	439	Y	N439Y	Likely pathogenic	1	1	19	31
MUT:LDLR:Asn548Lys	PROT:P01130	LDLR	N	548	K	N548K	Likely pathogenic	1	1	19	31
MUT:LDLR:Asn548Ser	PROT:P01130	LDLR	N	548	S	N548S	Likely pathogenic	1	1	19	31
MUT:LDLR:Asn564Asp	PROT:P01130	LDLR	N	564	D	N564D	Pathogenic/Likely pathogenic	1	2	19	32
MUT:LDLR:Asn564Ser	PROT:P01130	LDLR	N	564	S	N564S	Pathogenic/Likely pathogenic	1	2	19	32
MUT:LDLR:Asn564Thr	PROT:P01130	LDLR	N	564	T	N564T	Pathogenic/Likely pathogenic	1	1	19	32
MUT:LDLR:Asn825Asp	PROT:P01130	LDLR	N	825	D	N825D	Likely pathogenic	1	1	19	3
MUT:LDLR:Asn825Lys	PROT:P01130	LDLR	N	825	K	N825K	Likely pathogenic	1	3	19	3
MUT:LDLR:Asp100Asn	PROT:P01130	LDLR	D	100	N	D100N	Likely pathogenic	1	2	19	10
MUT:LDLR:Asp100Gly	PROT:P01130	LDLR	D	100	G	D100G	Likely pathogenic	1	1	19	10
MUT:LDLR:Asp100Val	PROT:P01130	LDLR	D	100	V	D100V	Pathogenic/Likely pathogenic	1	3	19	10
MUT:LDLR:Asp118Tyr	PROT:P01130	LDLR	D	118	Y	D118Y	Likely pathogenic	1	3	19	8
MUT:LDLR:Asp129Gly	PROT:P01130	LDLR	D	129	G	D129G	Likely pathogenic	1	2	19	19
MUT:LDLR:Asp133Gly	PROT:P01130	LDLR	D	133	G	D133G	Likely pathogenic	1	1	19	23
MUT:LDLR:Asp133His	PROT:P01130	LDLR	D	133	H	D133H	Pathogenic	1	1	19	23
MUT:LDLR:Asp133Tyr	PROT:P01130	LDLR	D	133	Y	D133Y	Likely pathogenic	1	1	19	23
MUT:LDLR:Asp136Glu	PROT:P01130	LDLR	D	136	E	D136E	Likely pathogenic	1	1	19	26
MUT:LDLR:Asp136Val	PROT:P01130	LDLR	D	136	V	D136V	Likely pathogenic	1	1	19	26
MUT:LDLR:Asp139Asn	PROT:P01130	LDLR	D	139	N	D139N	Likely pathogenic	1	1	19	29
MUT:LDLR:Asp139Glu	PROT:P01130	LDLR	D	139	E	D139E	Likely pathogenic	1	3	19	29
MUT:LDLR:Asp139Gly	PROT:P01130	LDLR	D	139	G	D139G	Pathogenic/Likely pathogenic	1	2	19	29
MUT:LDLR:Asp139His	PROT:P01130	LDLR	D	139	H	D139H	Likely pathogenic	1	1	19	29
MUT:LDLR:Asp139Val	PROT:P01130	LDLR	D	139	V	D139V	Pathogenic/Likely pathogenic	1	1	19	29
MUT:LDLR:Asp168Ala	PROT:P01130	LDLR	D	168	A	D168A	Likely pathogenic	1	1	19	58
MUT:LDLR:Asp168Asn	PROT:P01130	LDLR	D	168	N	D168N	Pathogenic/Likely pathogenic	1	4	19	58
MUT:LDLR:Asp168Gly	PROT:P01130	LDLR	D	168	G	D168G	Likely pathogenic	1	2	19	58
MUT:LDLR:Asp168His	PROT:P01130	LDLR	D	168	H	D168H	Pathogenic/Likely pathogenic	1	2	19	58
MUT:LDLR:Asp168Tyr	PROT:P01130	LDLR	D	168	Y	D168Y	Pathogenic/Likely pathogenic	1	2	19	58
MUT:LDLR:Asp170Glu	PROT:P01130	LDLR	D	170	E	D170E	Likely pathogenic	1	2	19	60
MUT:LDLR:Asp172Ala	PROT:P01130	LDLR	D	172	A	D172A	Likely pathogenic	1	1	19	62
MUT:LDLR:Asp172Asn	PROT:P01130	LDLR	D	172	N	D172N	Pathogenic/Likely pathogenic	1	3	19	62
MUT:LDLR:Asp172Glu	PROT:P01130	LDLR	D	172	E	D172E	Likely pathogenic	1	1	19	62
MUT:LDLR:Asp172Gly	PROT:P01130	LDLR	D	172	G	D172G	Pathogenic/Likely pathogenic	1	2	19	62
MUT:LDLR:Asp172His	PROT:P01130	LDLR	D	172	H	D172H	Pathogenic/Likely pathogenic	1	2	19	62
MUT:LDLR:Asp172Tyr	PROT:P01130	LDLR	D	172	Y	D172Y	Pathogenic/Likely pathogenic	1	2	19	62
MUT:LDLR:Asp172Val	PROT:P01130	LDLR	D	172	V	D172V	Likely pathogenic	1	1	19	62
MUT:LDLR:Asp175Asn	PROT:P01130	LDLR	D	175	N	D175N	Pathogenic/Likely pathogenic	1	2	19	65
MUT:LDLR:Asp175Gly	PROT:P01130	LDLR	D	175	G	D175G	Pathogenic	1	1	19	65
MUT:LDLR:Asp175Tyr	PROT:P01130	LDLR	D	175	Y	D175Y	Likely pathogenic	1	1	19	65
MUT:LDLR:Asp178Asn	PROT:P01130	LDLR	D	178	N	D178N	Likely pathogenic	1	1	19	68
MUT:LDLR:Asp178Glu	PROT:P01130	LDLR	D	178	E	D178E	Pathogenic/Likely pathogenic	1	3	19	68
MUT:LDLR:Asp178Gly	PROT:P01130	LDLR	D	178	G	D178G	Pathogenic/Likely pathogenic	1	1	19	68
MUT:LDLR:Asp178His	PROT:P01130	LDLR	D	178	H	D178H	Pathogenic/Likely pathogenic	1	1	19	68
MUT:LDLR:Asp178Tyr	PROT:P01130	LDLR	D	178	Y	D178Y	Likely pathogenic	1	1	19	68
MUT:LDLR:Asp178Val	PROT:P01130	LDLR	D	178	V	D178V	Pathogenic/Likely pathogenic	1	2	19	68
MUT:LDLR:Asp221Asn	PROT:P01130	LDLR	D	221	N	D221N	Pathogenic/Likely pathogenic	1	2	19	111
MUT:LDLR:Asp221Gly	PROT:P01130	LDLR	D	221	G	D221G	Pathogenic	1	4	19	111
MUT:LDLR:Asp221His	PROT:P01130	LDLR	D	221	H	D221H	Likely pathogenic	1	1	19	111
MUT:LDLR:Asp221Tyr	PROT:P01130	LDLR	D	221	Y	D221Y	Pathogenic	1	2	19	111
MUT:LDLR:Asp221Val	PROT:P01130	LDLR	D	221	V	D221V	Likely pathogenic	1	1	19	111
MUT:LDLR:Asp224Ala	PROT:P01130	LDLR	D	224	A	D224A	Likely pathogenic	1	1	19	114
MUT:LDLR:Asp224Asn	PROT:P01130	LDLR	D	224	N	D224N	Pathogenic/Likely pathogenic	1	2	19	114
MUT:LDLR:Asp224Glu	PROT:P01130	LDLR	D	224	E	D224E	Pathogenic/Likely pathogenic	1	2	19	114
MUT:LDLR:Asp224Gly	PROT:P01130	LDLR	D	224	G	D224G	Pathogenic/Likely pathogenic	1	2	19	114
MUT:LDLR:Asp224Val	PROT:P01130	LDLR	D	224	V	D224V	Pathogenic/Likely pathogenic	1	2	19	114
MUT:LDLR:Asp227Asn	PROT:P01130	LDLR	D	227	N	D227N	Likely pathogenic	1	1	19	117
MUT:LDLR:Asp227Glu	PROT:P01130	LDLR	D	227	E	D227E	Pathogenic	1	3	19	117
MUT:LDLR:Asp227Gly	PROT:P01130	LDLR	D	227	G	D227G	Pathogenic	1	1	19	117
MUT:LDLR:Asp227Val	PROT:P01130	LDLR	D	227	V	D227V	Pathogenic/Likely pathogenic	1	2	19	117
MUT:LDLR:Asp256Glu	PROT:P01130	LDLR	D	256	E	D256E	Likely pathogenic	1	2	19	134
MUT:LDLR:Asp256Gly	PROT:P01130	LDLR	D	256	G	D256G	Pathogenic/Likely pathogenic	1	1	19	134
MUT:LDLR:Asp263Gly	PROT:P01130	LDLR	D	263	G	D263G	Pathogenic/Likely pathogenic	1	2	19	127
MUT:LDLR:Asp263Tyr	PROT:P01130	LDLR	D	263	Y	D263Y	Likely pathogenic	1	1	19	127
MUT:LDLR:Asp266Asn	PROT:P01130	LDLR	D	266	N	D266N	Pathogenic	1	4	19	124
MUT:LDLR:Asp266Glu	PROT:P01130	LDLR	D	266	E	D266E	Pathogenic	1	5	19	124
MUT:LDLR:Asp266Gly	PROT:P01130	LDLR	D	266	G	D266G	Likely pathogenic	1	2	19	124
MUT:LDLR:Asp266His	PROT:P01130	LDLR	D	266	H	D266H	Pathogenic/Likely pathogenic	1	2	19	124
MUT:LDLR:Asp266Tyr	PROT:P01130	LDLR	D	266	Y	D266Y	Pathogenic	1	2	19	124
MUT:LDLR:Asp266Val	PROT:P01130	LDLR	D	266	V	D266V	Likely pathogenic	1	1	19	124
MUT:LDLR:Asp301Ala	PROT:P01130	LDLR	D	301	A	D301A	Likely pathogenic	1	1	19	89
MUT:LDLR:Asp301Gly	PROT:P01130	LDLR	D	301	G	D301G	Pathogenic/Likely pathogenic	1	2	19	89
MUT:LDLR:Asp301Tyr	PROT:P01130	LDLR	D	301	Y	D301Y	Pathogenic/Likely pathogenic	1	2	19	89
MUT:LDLR:Asp301Val	PROT:P01130	LDLR	D	301	V	D301V	Pathogenic	1	1	19	89
MUT:LDLR:Asp304Asn	PROT:P01130	LDLR	D	304	N	D304N	Pathogenic	1	6	19	86
MUT:LDLR:Asp304Glu	PROT:P01130	LDLR	D	304	E	D304E	Likely pathogenic	1	4	19	86
MUT:LDLR:Asp304Tyr	PROT:P01130	LDLR	D	304	Y	D304Y	Likely pathogenic	1	2	19	86
MUT:LDLR:Asp307Glu	PROT:P01130	LDLR	D	307	E	D307E	Pathogenic/Likely pathogenic	1	2	19	83
MUT:LDLR:Asp307Gly	PROT:P01130	LDLR	D	307	G	D307G	Pathogenic/Likely pathogenic	1	2	19	83
MUT:LDLR:Asp307His	PROT:P01130	LDLR	D	307	H	D307H	Likely pathogenic	1	2	19	83
MUT:LDLR:Asp342Asn	PROT:P01130	LDLR	D	342	N	D342N	Benign	0	3	19	48
MUT:LDLR:Asp354Ala	PROT:P01130	LDLR	D	354	A	D354A	Likely pathogenic	1	1	19	36
MUT:LDLR:Asp354Asn	PROT:P01130	LDLR	D	354	N	D354N	Pathogenic/Likely pathogenic	1	1	19	36
MUT:LDLR:Asp354Gly	PROT:P01130	LDLR	D	354	G	D354G	Pathogenic/Likely pathogenic	1	3	19	36
MUT:LDLR:Asp354Val	PROT:P01130	LDLR	D	354	V	D354V	Pathogenic/Likely pathogenic	1	2	19	36
MUT:LDLR:Asp356Ala	PROT:P01130	LDLR	D	356	A	D356A	Likely pathogenic	1	1	19	34
MUT:LDLR:Asp356Gly	PROT:P01130	LDLR	D	356	G	D356G	Likely pathogenic	1	1	19	34
MUT:LDLR:Asp356Tyr	PROT:P01130	LDLR	D	356	Y	D356Y	Pathogenic/Likely pathogenic	1	2	19	34
MUT:LDLR:Asp356Val	PROT:P01130	LDLR	D	356	V	D356V	Likely pathogenic	1	2	19	34
MUT:LDLR:Asp36Tyr	PROT:P01130	LDLR	D	36	Y	D36Y	Pathogenic	1	1	19	2
MUT:LDLR:Asp415Gly	PROT:P01130	LDLR	D	415	G	D415G	Likely pathogenic	1	1	19	11
MUT:LDLR:Asp415His	PROT:P01130	LDLR	D	415	H	D415H	Likely pathogenic	1	2	19	11
MUT:LDLR:Asp433Ala	PROT:P01130	LDLR	D	433	A	D433A	Likely pathogenic	1	1	19	29
MUT:LDLR:Asp433Asn	PROT:P01130	LDLR	D	433	N	D433N	Likely pathogenic	1	1	19	29
MUT:LDLR:Asp433His	PROT:P01130	LDLR	D	433	H	D433H	Pathogenic/Likely pathogenic	1	2	19	29
MUT:LDLR:Asp433Tyr	PROT:P01130	LDLR	D	433	Y	D433Y	Likely pathogenic	1	1	19	29
MUT:LDLR:Asp433Val	PROT:P01130	LDLR	D	433	V	D433V	Likely pathogenic	1	1	19	29
MUT:LDLR:Asp472Tyr	PROT:P01130	LDLR	D	472	Y	D472Y	Pathogenic	1	4	19	2
MUT:LDLR:Asp482Asn	PROT:P01130	LDLR	D	482	N	D482N	Pathogenic	1	4	19	12
MUT:LDLR:Asp482Gly	PROT:P01130	LDLR	D	482	G	D482G	Likely pathogenic	1	2	19	12
MUT:LDLR:Asp482His	PROT:P01130	LDLR	D	482	H	D482H	Likely pathogenic	1	2	19	12
MUT:LDLR:Asp492Asn	PROT:P01130	LDLR	D	492	N	D492N	Pathogenic	1	4	19	22
MUT:LDLR:Asp492Gly	PROT:P01130	LDLR	D	492	G	D492G	Likely pathogenic	1	2	19	22
MUT:LDLR:Asp492His	PROT:P01130	LDLR	D	492	H	D492H	Likely pathogenic	1	2	19	22
MUT:LDLR:Asp525Val	PROT:P01130	LDLR	D	525	V	D525V	Likely pathogenic	1	2	19	8
MUT:LDLR:Asp535Asn	PROT:P01130	LDLR	D	535	N	D535N	Pathogenic	1	1	19	18
MUT:LDLR:Asp535Tyr	PROT:P01130	LDLR	D	535	Y	D535Y	Likely pathogenic	1	1	19	18
MUT:LDLR:Asp569Asn	PROT:P01130	LDLR	D	569	N	D569N	Likely pathogenic	1	1	19	27
MUT:LDLR:Asp569Val	PROT:P01130	LDLR	D	569	V	D569V	Pathogenic	1	1	19	27
MUT:LDLR:Asp579Ala	PROT:P01130	LDLR	D	579	A	D579A	Likely pathogenic	1	1	19	17
MUT:LDLR:Asp579Glu	PROT:P01130	LDLR	D	579	E	D579E	Likely pathogenic	1	1	19	17
MUT:LDLR:Asp579Gly	PROT:P01130	LDLR	D	579	G	D579G	Likely pathogenic	1	1	19	17
MUT:LDLR:Asp579Tyr	PROT:P01130	LDLR	D	579	Y	D579Y	Pathogenic/Likely pathogenic	1	2	19	17
MUT:LDLR:Asp579Val	PROT:P01130	LDLR	D	579	V	D579V	Pathogenic	1	1	19	17
MUT:LDLR:Asp601Tyr	PROT:P01130	LDLR	D	601	Y	D601Y	Likely pathogenic	1	1	19	2
MUT:LDLR:Asp601Val	PROT:P01130	LDLR	D	601	V	D601V	Likely pathogenic	1	2	19	2
MUT:LDLR:Asp622Ala	PROT:P01130	LDLR	D	622	A	D622A	Likely pathogenic	1	2	19	19
MUT:LDLR:Asp622Asn	PROT:P01130	LDLR	D	622	N	D622N	Pathogenic/Likely pathogenic	1	2	19	19
MUT:LDLR:Asp622Val	PROT:P01130	LDLR	D	622	V	D622V	Likely pathogenic	1	1	19	19
MUT:LDLR:Asp651Asn	PROT:P01130	LDLR	D	651	N	D651N	Likely pathogenic	1	2	19	48
MUT:LDLR:Asp651Gly	PROT:P01130	LDLR	D	651	G	D651G	Likely pathogenic	1	1	19	48
MUT:LDLR:Asp651Tyr	PROT:P01130	LDLR	D	651	Y	D651Y	Likely pathogenic	1	1	19	48
MUT:LDLR:Asp700Asn	PROT:P01130	LDLR	D	700	N	D700N	Likely pathogenic	1	2	19	13
MUT:LDLR:Asp700Gly	PROT:P01130	LDLR	D	700	G	D700G	Likely pathogenic	1	2	19	13
MUT:LDLR:Asp707Tyr	PROT:P01130	LDLR	D	707	Y	D707Y	Likely pathogenic	1	1	19	6
MUT:LDLR:Asp90Ala	PROT:P01130	LDLR	D	90	A	D90A	Likely pathogenic	1	1	19	20
MUT:LDLR:Asp90Asn	PROT:P01130	LDLR	D	90	N	D90N	Pathogenic	1	3	19	20
MUT:LDLR:Asp90Glu	PROT:P01130	LDLR	D	90	E	D90E	Pathogenic	1	2	19	20
MUT:LDLR:Asp90Gly	PROT:P01130	LDLR	D	90	G	D90G	Pathogenic	1	4	19	20
MUT:LDLR:Asp90Tyr	PROT:P01130	LDLR	D	90	Y	D90Y	Likely pathogenic	1	2	19	20
MUT:LDLR:Asp94His	PROT:P01130	LDLR	D	94	H	D94H	Likely pathogenic	1	1	19	16
MUT:LDLR:Asp94Tyr	PROT:P01130	LDLR	D	94	Y	D94Y	Likely pathogenic	1	2	19	16
MUT:LDLR:Asp94Val	PROT:P01130	LDLR	D	94	V	D94V	Likely pathogenic	1	1	19	16
MUT:LDLR:Cys104Arg	PROT:P01130	LDLR	C	104	R	C104R	Pathogenic/Likely pathogenic	1	2	19	6
MUT:LDLR:Cys104Gly	PROT:P01130	LDLR	C	104	G	C104G	Likely pathogenic	1	1	19	6
MUT:LDLR:Cys104Phe	PROT:P01130	LDLR	C	104	F	C104F	Likely pathogenic	1	2	19	6
MUT:LDLR:Cys104Ser	PROT:P01130	LDLR	C	104	S	C104S	Pathogenic	1	1	19	6
MUT:LDLR:Cys104Trp	PROT:P01130	LDLR	C	104	W	C104W	Likely pathogenic	1	1	19	6
MUT:LDLR:Cys104Tyr	PROT:P01130	LDLR	C	104	Y	C104Y	Pathogenic/Likely pathogenic	1	3	19	6
MUT:LDLR:Cys109Arg	PROT:P01130	LDLR	C	109	R	C109R	Pathogenic/Likely pathogenic	1	2	19	1
MUT:LDLR:Cys109Gly	PROT:P01130	LDLR	C	109	G	C109G	Likely pathogenic	1	1	19	1
MUT:LDLR:Cys109Phe	PROT:P01130	LDLR	C	109	F	C109F	Pathogenic/Likely pathogenic	1	1	19	1
MUT:LDLR:Cys109Ser	PROT:P01130	LDLR	C	109	S	C109S	Likely pathogenic	1	2	19	1
MUT:LDLR:Cys109Tyr	PROT:P01130	LDLR	C	109	Y	C109Y	Pathogenic/Likely pathogenic	1	2	19	1
MUT:LDLR:Cys116Arg	PROT:P01130	LDLR	C	116	R	C116R	Pathogenic/Likely pathogenic	1	2	19	6
MUT:LDLR:Cys116Phe	PROT:P01130	LDLR	C	116	F	C116F	Likely pathogenic	1	1	19	6
MUT:LDLR:Cys121Arg	PROT:P01130	LDLR	C	121	R	C121R	Pathogenic/Likely pathogenic	1	2	19	11
MUT:LDLR:Cys121Gly	PROT:P01130	LDLR	C	121	G	C121G	Likely pathogenic	1	1	19	11
MUT:LDLR:Cys121Phe	PROT:P01130	LDLR	C	121	F	C121F	Likely pathogenic	1	2	19	11
MUT:LDLR:Cys121Ser	PROT:P01130	LDLR	C	121	S	C121S	Likely pathogenic	1	2	19	11
MUT:LDLR:Cys121Trp	PROT:P01130	LDLR	C	121	W	C121W	Pathogenic	1	1	19	11
MUT:LDLR:Cys121Tyr	PROT:P01130	LDLR	C	121	Y	C121Y	Likely pathogenic	1	3	19	11
MUT:LDLR:Cys128Arg	PROT:P01130	LDLR	C	128	R	C128R	Pathogenic/Likely pathogenic	1	1	19	18
MUT:LDLR:Cys128Phe	PROT:P01130	LDLR	C	128	F	C128F	Likely pathogenic	1	1	19	18
MUT:LDLR:Cys128Ser	PROT:P01130	LDLR	C	128	S	C128S	Likely pathogenic	1	1	19	18
MUT:LDLR:Cys128Tyr	PROT:P01130	LDLR	C	128	Y	C128Y	Pathogenic/Likely pathogenic	1	2	19	18
MUT:LDLR:Cys134Arg	PROT:P01130	LDLR	C	134	R	C134R	Pathogenic/Likely pathogenic	1	3	19	24
MUT:LDLR:Cys134Phe	PROT:P01130	LDLR	C	134	F	C134F	Pathogenic/Likely pathogenic	1	2	19	24
MUT:LDLR:Cys134Trp	PROT:P01130	LDLR	C	134	W	C134W	Likely pathogenic	1	1	19	24
MUT:LDLR:Cys134Tyr	PROT:P01130	LDLR	C	134	Y	C134Y	Pathogenic/Likely pathogenic	1	2	19	24
MUT:LDLR:Cys143Arg	PROT:P01130	LDLR	C	143	R	C143R	Pathogenic/Likely pathogenic	1	2	19	33
MUT:LDLR:Cys143Gly	PROT:P01130	LDLR	C	143	G	C143G	Pathogenic/Likely pathogenic	1	2	19	33
MUT:LDLR:Cys143Phe	PROT:P01130	LDLR	C	143	F	C143F	Pathogenic/Likely pathogenic	1	2	19	33
MUT:LDLR:Cys143Ser	PROT:P01130	LDLR	C	143	S	C143S	Pathogenic/Likely pathogenic	1	2	19	33
MUT:LDLR:Cys143Tyr	PROT:P01130	LDLR	C	143	Y	C143Y	Pathogenic/Likely pathogenic	1	3	19	33
MUT:LDLR:Cys148Arg	PROT:P01130	LDLR	C	148	R	C148R	Pathogenic/Likely pathogenic	1	2	19	38
MUT:LDLR:Cys148Ser	PROT:P01130	LDLR	C	148	S	C148S	Pathogenic/Likely pathogenic	1	3	19	38
MUT:LDLR:Cys148Trp	PROT:P01130	LDLR	C	148	W	C148W	Likely pathogenic	1	1	19	38
MUT:LDLR:Cys148Tyr	PROT:P01130	LDLR	C	148	Y	C148Y	Pathogenic/Likely pathogenic	1	3	19	38
MUT:LDLR:Cys155Arg	PROT:P01130	LDLR	C	155	R	C155R	Pathogenic/Likely pathogenic	1	2	19	45
MUT:LDLR:Cys155Gly	PROT:P01130	LDLR	C	155	G	C155G	Pathogenic/Likely pathogenic	1	2	19	45
MUT:LDLR:Cys155Phe	PROT:P01130	LDLR	C	155	F	C155F	Likely pathogenic	1	1	19	45
MUT:LDLR:Cys155Ser	PROT:P01130	LDLR	C	155	S	C155S	Likely pathogenic	1	1	19	45
MUT:LDLR:Cys155Tyr	PROT:P01130	LDLR	C	155	Y	C155Y	Pathogenic/Likely pathogenic	1	2	19	45
MUT:LDLR:Cys160Arg	PROT:P01130	LDLR	C	160	R	C160R	Pathogenic/Likely pathogenic	1	1	19	50
MUT:LDLR:Cys160Gly	PROT:P01130	LDLR	C	160	G	C160G	Pathogenic/Likely pathogenic	1	2	19	50
MUT:LDLR:Cys160Phe	PROT:P01130	LDLR	C	160	F	C160F	Likely pathogenic	1	1	19	50
MUT:LDLR:Cys160Ser	PROT:P01130	LDLR	C	160	S	C160S	Likely pathogenic	1	2	19	50
MUT:LDLR:Cys167Arg	PROT:P01130	LDLR	C	167	R	C167R	Pathogenic/Likely pathogenic	1	2	19	57
MUT:LDLR:Cys167Trp	PROT:P01130	LDLR	C	167	W	C167W	Pathogenic/Likely pathogenic	1	1	19	57
MUT:LDLR:Cys167Tyr	PROT:P01130	LDLR	C	167	Y	C167Y	Pathogenic/Likely pathogenic	1	2	19	57
MUT:LDLR:Cys173Arg	PROT:P01130	LDLR	C	173	R	C173R	Pathogenic/Likely pathogenic	1	2	19	63
MUT:LDLR:Cys173Gly	PROT:P01130	LDLR	C	173	G	C173G	Likely pathogenic	1	1	19	63
MUT:LDLR:Cys173Ser	PROT:P01130	LDLR	C	173	S	C173S	Pathogenic	1	1	19	63
MUT:LDLR:Cys173Trp	PROT:P01130	LDLR	C	173	W	C173W	Pathogenic/Likely pathogenic	1	3	19	63
MUT:LDLR:Cys173Tyr	PROT:P01130	LDLR	C	173	Y	C173Y	Likely pathogenic	1	2	19	63
MUT:LDLR:Cys184Arg	PROT:P01130	LDLR	C	184	R	C184R	Pathogenic/Likely pathogenic	1	2	19	74
MUT:LDLR:Cys184Phe	PROT:P01130	LDLR	C	184	F	C184F	Likely pathogenic	1	1	19	74
MUT:LDLR:Cys184Ser	PROT:P01130	LDLR	C	184	S	C184S	Likely pathogenic	1	1	19	74
MUT:LDLR:Cys184Trp	PROT:P01130	LDLR	C	184	W	C184W	Likely pathogenic	1	1	19	74
MUT:LDLR:Cys184Tyr	PROT:P01130	LDLR	C	184	Y	C184Y	Pathogenic	1	3	19	74
MUT:LDLR:Cys197Arg	PROT:P01130	LDLR	C	197	R	C197R	Pathogenic/Likely pathogenic	1	2	19	87
MUT:LDLR:Cys197Gly	PROT:P01130	LDLR	C	197	G	C197G	Pathogenic/Likely pathogenic	1	3	19	87
MUT:LDLR:Cys197Phe	PROT:P01130	LDLR	C	197	F	C197F	Likely pathogenic	1	2	19	87
MUT:LDLR:Cys197Ser	PROT:P01130	LDLR	C	197	S	C197S	Likely pathogenic	1	2	19	87
MUT:LDLR:Cys197Trp	PROT:P01130	LDLR	C	197	W	C197W	Pathogenic/Likely pathogenic	1	2	19	87
MUT:LDLR:Cys197Tyr	PROT:P01130	LDLR	C	197	Y	C197Y	Pathogenic/Likely pathogenic	1	5	19	87
MUT:LDLR:Cys204Arg	PROT:P01130	LDLR	C	204	R	C204R	Pathogenic/Likely pathogenic	1	1	19	94
MUT:LDLR:Cys204Gly	PROT:P01130	LDLR	C	204	G	C204G	Pathogenic/Likely pathogenic	1	1	19	94
MUT:LDLR:Cys204Phe	PROT:P01130	LDLR	C	204	F	C204F	Likely pathogenic	1	2	19	94
MUT:LDLR:Cys204Ser	PROT:P01130	LDLR	C	204	S	C204S	Likely pathogenic	1	1	19	94
MUT:LDLR:Cys204Tyr	PROT:P01130	LDLR	C	204	Y	C204Y	Likely pathogenic	1	1	19	94
MUT:LDLR:Cys209Phe	PROT:P01130	LDLR	C	209	F	C209F	Likely pathogenic	1	1	19	99
MUT:LDLR:Cys209Tyr	PROT:P01130	LDLR	C	209	Y	C209Y	Pathogenic/Likely pathogenic	1	2	19	99
MUT:LDLR:Cys216Arg	PROT:P01130	LDLR	C	216	R	C216R	Pathogenic/Likely pathogenic	1	2	19	106
MUT:LDLR:Cys216Trp	PROT:P01130	LDLR	C	216	W	C216W	Likely pathogenic	1	1	19	106
MUT:LDLR:Cys216Tyr	PROT:P01130	LDLR	C	216	Y	C216Y	Pathogenic/Likely pathogenic	1	2	19	106
MUT:LDLR:Cys222Arg	PROT:P01130	LDLR	C	222	R	C222R	Likely pathogenic	1	3	19	112
MUT:LDLR:Cys222Gly	PROT:P01130	LDLR	C	222	G	C222G	Likely pathogenic	1	2	19	112
MUT:LDLR:Cys222Phe	PROT:P01130	LDLR	C	222	F	C222F	Likely pathogenic	1	2	19	112
MUT:LDLR:Cys222Trp	PROT:P01130	LDLR	C	222	W	C222W	Likely pathogenic	1	1	19	112
MUT:LDLR:Cys222Tyr	PROT:P01130	LDLR	C	222	Y	C222Y	Pathogenic/Likely pathogenic	1	2	19	112
MUT:LDLR:Cys231Arg	PROT:P01130	LDLR	C	231	R	C231R	Pathogenic/Likely pathogenic	1	3	19	121
MUT:LDLR:Cys231Gly	PROT:P01130	LDLR	C	231	G	C231G	Pathogenic/Likely pathogenic	1	2	19	121
MUT:LDLR:Cys231Trp	PROT:P01130	LDLR	C	231	W	C231W	Likely pathogenic	1	2	19	121
MUT:LDLR:Cys231Tyr	PROT:P01130	LDLR	C	231	Y	C231Y	Pathogenic/Likely pathogenic	1	2	19	121
MUT:LDLR:Cys236Arg	PROT:P01130	LDLR	C	236	R	C236R	Likely pathogenic	1	1	19	126
MUT:LDLR:Cys236Gly	PROT:P01130	LDLR	C	236	G	C236G	Likely pathogenic	1	1	19	126
MUT:LDLR:Cys243Arg	PROT:P01130	LDLR	C	243	R	C243R	Likely pathogenic	1	2	19	133
MUT:LDLR:Cys243Ser	PROT:P01130	LDLR	C	243	S	C243S	Likely pathogenic	1	1	19	133
MUT:LDLR:Cys248Gly	PROT:P01130	LDLR	C	248	G	C248G	Likely pathogenic	1	1	19	138
MUT:LDLR:Cys248Phe	PROT:P01130	LDLR	C	248	F	C248F	Pathogenic/Likely pathogenic	1	1	19	138
MUT:LDLR:Cys248Ser	PROT:P01130	LDLR	C	248	S	C248S	Likely pathogenic	1	1	19	138
MUT:LDLR:Cys248Tyr	PROT:P01130	LDLR	C	248	Y	C248Y	Likely pathogenic	1	2	19	138
MUT:LDLR:Cys255Arg	PROT:P01130	LDLR	C	255	R	C255R	Likely pathogenic	1	2	19	135
MUT:LDLR:Cys255Phe	PROT:P01130	LDLR	C	255	F	C255F	Pathogenic	1	1	19	135
MUT:LDLR:Cys255Ser	PROT:P01130	LDLR	C	255	S	C255S	Likely pathogenic	1	1	19	135
MUT:LDLR:Cys255Tyr	PROT:P01130	LDLR	C	255	Y	C255Y	Likely pathogenic	1	1	19	135
MUT:LDLR:Cys261Phe	PROT:P01130	LDLR	C	261	F	C261F	Pathogenic/Likely pathogenic	1	4	19	129
MUT:LDLR:Cys261Ser	PROT:P01130	LDLR	C	261	S	C261S	Likely pathogenic	1	1	19	129
MUT:LDLR:Cys270Ser	PROT:P01130	LDLR	C	270	S	C270S	Likely pathogenic	1	1	19	120
MUT:LDLR:Cys270Trp	PROT:P01130	LDLR	C	270	W	C270W	Likely pathogenic	1	1	19	120
MUT:LDLR:Cys270Tyr	PROT:P01130	LDLR	C	270	Y	C270Y	Pathogenic/Likely pathogenic	1	2	19	120
MUT:LDLR:Cys276Arg	PROT:P01130	LDLR	C	276	R	C276R	Likely pathogenic	1	3	19	114
MUT:LDLR:Cys276Gly	PROT:P01130	LDLR	C	276	G	C276G	Likely pathogenic	1	1	19	114
MUT:LDLR:Cys276Trp	PROT:P01130	LDLR	C	276	W	C276W	Pathogenic/Likely pathogenic	1	2	19	114
MUT:LDLR:Cys276Tyr	PROT:P01130	LDLR	C	276	Y	C276Y	Pathogenic/Likely pathogenic	1	1	19	114
MUT:LDLR:Cys27Arg	PROT:P01130	LDLR	C	27	R	C27R	Pathogenic/Likely pathogenic	1	2	19	11
MUT:LDLR:Cys27Trp	PROT:P01130	LDLR	C	27	W	C27W	Pathogenic	1	3	19	11
MUT:LDLR:Cys284Arg	PROT:P01130	LDLR	C	284	R	C284R	Pathogenic/Likely pathogenic	1	2	19	106
MUT:LDLR:Cys284Gly	PROT:P01130	LDLR	C	284	G	C284G	Likely pathogenic	1	1	19	106
MUT:LDLR:Cys284Phe	PROT:P01130	LDLR	C	284	F	C284F	Likely pathogenic	1	1	19	106
MUT:LDLR:Cys289Arg	PROT:P01130	LDLR	C	289	R	C289R	Likely pathogenic	1	1	19	101
MUT:LDLR:Cys296Arg	PROT:P01130	LDLR	C	296	R	C296R	Pathogenic	1	1	19	94
MUT:LDLR:Cys296Phe	PROT:P01130	LDLR	C	296	F	C296F	Pathogenic	1	1	19	94
MUT:LDLR:Cys296Trp	PROT:P01130	LDLR	C	296	W	C296W	Likely pathogenic	1	1	19	94
MUT:LDLR:Cys302Phe	PROT:P01130	LDLR	C	302	F	C302F	Pathogenic/Likely pathogenic	1	2	19	88
MUT:LDLR:Cys302Trp	PROT:P01130	LDLR	C	302	W	C302W	Pathogenic/Likely pathogenic	1	1	19	88
MUT:LDLR:Cys302Tyr	PROT:P01130	LDLR	C	302	Y	C302Y	Likely pathogenic	1	2	19	88
MUT:LDLR:Cys313Arg	PROT:P01130	LDLR	C	313	R	C313R	Likely pathogenic	1	1	19	77
MUT:LDLR:Cys313Gly	PROT:P01130	LDLR	C	313	G	C313G	Likely pathogenic	1	2	19	77
MUT:LDLR:Cys313Tyr	PROT:P01130	LDLR	C	313	Y	C313Y	Pathogenic/Likely pathogenic	1	5	19	77
MUT:LDLR:Cys318Arg	PROT:P01130	LDLR	C	318	R	C318R	Pathogenic/Likely pathogenic	1	2	19	72
MUT:LDLR:Cys318Phe	PROT:P01130	LDLR	C	318	F	C318F	Pathogenic/Likely pathogenic	1	2	19	72
MUT:LDLR:Cys318Tyr	PROT:P01130	LDLR	C	318	Y	C318Y	Likely pathogenic	1	1	19	72
MUT:LDLR:Cys325Arg	PROT:P01130	LDLR	C	325	R	C325R	Likely pathogenic	1	2	19	65
MUT:LDLR:Cys325Phe	PROT:P01130	LDLR	C	325	F	C325F	Likely pathogenic	1	1	19	65
MUT:LDLR:Cys325Tyr	PROT:P01130	LDLR	C	325	Y	C325Y	Likely pathogenic	1	3	19	65
MUT:LDLR:Cys329Arg	PROT:P01130	LDLR	C	329	R	C329R	Likely pathogenic	1	1	19	61
MUT:LDLR:Cys329Gly	PROT:P01130	LDLR	C	329	G	C329G	Pathogenic/Likely pathogenic	1	2	19	61
MUT:LDLR:Cys329Phe	PROT:P01130	LDLR	C	329	F	C329F	Likely pathogenic	1	1	19	61
MUT:LDLR:Cys329Ser	PROT:P01130	LDLR	C	329	S	C329S	Likely pathogenic	1	1	19	61
MUT:LDLR:Cys329Trp	PROT:P01130	LDLR	C	329	W	C329W	Likely pathogenic	1	1	19	61
MUT:LDLR:Cys329Tyr	PROT:P01130	LDLR	C	329	Y	C329Y	Pathogenic/Likely pathogenic	1	3	19	61
MUT:LDLR:Cys338Arg	PROT:P01130	LDLR	C	338	R	C338R	Likely pathogenic	1	1	19	52
MUT:LDLR:Cys338Gly	PROT:P01130	LDLR	C	338	G	C338G	Pathogenic/Likely pathogenic	1	3	19	52
MUT:LDLR:Cys338Phe	PROT:P01130	LDLR	C	338	F	C338F	Likely pathogenic	1	2	19	52
MUT:LDLR:Cys338Ser	PROT:P01130	LDLR	C	338	S	C338S	Pathogenic/Likely pathogenic	1	2	19	52
MUT:LDLR:Cys338Trp	PROT:P01130	LDLR	C	338	W	C338W	Pathogenic	1	1	19	52
MUT:LDLR:Cys338Tyr	PROT:P01130	LDLR	C	338	Y	C338Y	Pathogenic/Likely pathogenic	1	3	19	52
MUT:LDLR:Cys340Gly	PROT:P01130	LDLR	C	340	G	C340G	Likely pathogenic	1	1	19	50
MUT:LDLR:Cys340Leu	PROT:P01130	LDLR	C	340	L	C340L	Pathogenic/Likely pathogenic	1	3	19	50
MUT:LDLR:Cys340Phe	PROT:P01130	LDLR	C	340	F	C340F	Pathogenic/Likely pathogenic	1	2	19	50
MUT:LDLR:Cys340Trp	PROT:P01130	LDLR	C	340	W	C340W	Pathogenic/Likely pathogenic	1	1	19	50
MUT:LDLR:Cys340Tyr	PROT:P01130	LDLR	C	340	Y	C340Y	Pathogenic/Likely pathogenic	1	3	19	50
MUT:LDLR:Cys34Gly	PROT:P01130	LDLR	C	34	G	C34G	Pathogenic/Likely pathogenic	1	2	19	4
MUT:LDLR:Cys34Ser	PROT:P01130	LDLR	C	34	S	C34S	Likely pathogenic	1	1	19	4
MUT:LDLR:Cys34Trp	PROT:P01130	LDLR	C	34	W	C34W	Likely pathogenic	1	1	19	4
MUT:LDLR:Cys352Arg	PROT:P01130	LDLR	C	352	R	C352R	Likely pathogenic	1	1	19	38
MUT:LDLR:Cys352Gly	PROT:P01130	LDLR	C	352	G	C352G	Likely pathogenic	1	1	19	38
MUT:LDLR:Cys352Phe	PROT:P01130	LDLR	C	352	F	C352F	Pathogenic/Likely pathogenic	1	2	19	38
MUT:LDLR:Cys352Ser	PROT:P01130	LDLR	C	352	S	C352S	Likely pathogenic	1	1	19	38
MUT:LDLR:Cys352Trp	PROT:P01130	LDLR	C	352	W	C352W	Pathogenic/Likely pathogenic	1	2	19	38
MUT:LDLR:Cys352Tyr	PROT:P01130	LDLR	C	352	Y	C352Y	Likely pathogenic	1	3	19	38
MUT:LDLR:Cys358Arg	PROT:P01130	LDLR	C	358	R	C358R	Pathogenic/Likely pathogenic	1	2	19	32
MUT:LDLR:Cys358Trp	PROT:P01130	LDLR	C	358	W	C358W	Likely pathogenic	1	1	19	32
MUT:LDLR:Cys358Tyr	PROT:P01130	LDLR	C	358	Y	C358Y	Pathogenic/Likely pathogenic	1	2	19	32
MUT:LDLR:Cys364Arg	PROT:P01130	LDLR	C	364	R	C364R	Likely pathogenic	1	2	19	26
MUT:LDLR:Cys364Gly	PROT:P01130	LDLR	C	364	G	C364G	Likely pathogenic	1	1	19	26
MUT:LDLR:Cys364Phe	PROT:P01130	LDLR	C	364	F	C364F	Likely pathogenic	1	1	19	26
MUT:LDLR:Cys364Ser	PROT:P01130	LDLR	C	364	S	C364S	Likely pathogenic	1	1	19	26
MUT:LDLR:Cys364Tyr	PROT:P01130	LDLR	C	364	Y	C364Y	Pathogenic/Likely pathogenic	1	2	19	26
MUT:LDLR:Cys368Arg	PROT:P01130	LDLR	C	368	R	C368R	Pathogenic/Likely pathogenic	1	3	19	22
MUT:LDLR:Cys368Gly	PROT:P01130	LDLR	C	368	G	C368G	Likely pathogenic	1	1	19	22
MUT:LDLR:Cys368Ser	PROT:P01130	LDLR	C	368	S	C368S	Likely pathogenic	1	2	19	22
MUT:LDLR:Cys368Tyr	PROT:P01130	LDLR	C	368	Y	C368Y	Pathogenic/Likely pathogenic	1	2	19	22
MUT:LDLR:Cys377Arg	PROT:P01130	LDLR	C	377	R	C377R	Pathogenic/Likely pathogenic	1	1	19	13
MUT:LDLR:Cys377Gly	PROT:P01130	LDLR	C	377	G	C377G	Pathogenic/Likely pathogenic	1	1	19	13
MUT:LDLR:Cys377Phe	PROT:P01130	LDLR	C	377	F	C377F	Pathogenic/Likely pathogenic	1	1	19	13
MUT:LDLR:Cys377Ser	PROT:P01130	LDLR	C	377	S	C377S	Pathogenic/Likely pathogenic	1	2	19	13
MUT:LDLR:Cys377Tyr	PROT:P01130	LDLR	C	377	Y	C377Y	Pathogenic/Likely pathogenic	1	3	19	13
MUT:LDLR:Cys379Arg	PROT:P01130	LDLR	C	379	R	C379R	Pathogenic/Likely pathogenic	1	2	19	11
MUT:LDLR:Cys379Gly	PROT:P01130	LDLR	C	379	G	C379G	Likely pathogenic	1	1	19	11
MUT:LDLR:Cys379Tyr	PROT:P01130	LDLR	C	379	Y	C379Y	Pathogenic/Likely pathogenic	1	1	19	11
MUT:LDLR:Cys392Arg	PROT:P01130	LDLR	C	392	R	C392R	Pathogenic/Likely pathogenic	1	2	19	2
MUT:LDLR:Cys392Tyr	PROT:P01130	LDLR	C	392	Y	C392Y	Likely pathogenic	1	2	19	2
MUT:LDLR:Cys39Phe	PROT:P01130	LDLR	C	39	F	C39F	Pathogenic	1	1	19	1
MUT:LDLR:Cys46Gly	PROT:P01130	LDLR	C	46	G	C46G	Pathogenic/Likely pathogenic	1	2	19	8
MUT:LDLR:Cys46Ser	PROT:P01130	LDLR	C	46	S	C46S	Likely pathogenic	1	1	19	8
MUT:LDLR:Cys46Tyr	PROT:P01130	LDLR	C	46	Y	C46Y	Likely pathogenic	1	1	19	8
MUT:LDLR:Cys52Phe	PROT:P01130	LDLR	C	52	F	C52F	Likely pathogenic	1	1	19	14
MUT:LDLR:Cys63Arg	PROT:P01130	LDLR	C	63	R	C63R	Pathogenic/Likely pathogenic	1	1	19	25
MUT:LDLR:Cys667Arg	PROT:P01130	LDLR	C	667	R	C667R	Pathogenic/Likely pathogenic	1	2	19	46
MUT:LDLR:Cys667Gly	PROT:P01130	LDLR	C	667	G	C667G	Likely pathogenic	1	1	19	46
MUT:LDLR:Cys667Phe	PROT:P01130	LDLR	C	667	F	C667F	Likely pathogenic	1	1	19	46
MUT:LDLR:Cys667Ser	PROT:P01130	LDLR	C	667	S	C667S	Likely pathogenic	1	1	19	46
MUT:LDLR:Cys667Trp	PROT:P01130	LDLR	C	667	W	C667W	Pathogenic/Likely pathogenic	1	2	19	46
MUT:LDLR:Cys667Tyr	PROT:P01130	LDLR	C	667	Y	C667Y	Likely pathogenic	1	3	19	46
MUT:LDLR:Cys677Arg	PROT:P01130	LDLR	C	677	R	C677R	Pathogenic/Likely pathogenic	1	3	19	36
MUT:LDLR:Cys677Phe	PROT:P01130	LDLR	C	677	F	C677F	Pathogenic/Likely pathogenic	1	2	19	36
MUT:LDLR:Cys677Tyr	PROT:P01130	LDLR	C	677	Y	C677Y	Pathogenic/Likely pathogenic	1	2	19	36
MUT:LDLR:Cys681Gly	PROT:P01130	LDLR	C	681	G	C681G	Likely pathogenic	1	2	19	32
MUT:LDLR:Cys681Trp	PROT:P01130	LDLR	C	681	W	C681W	Pathogenic	1	1	19	32
MUT:LDLR:Cys681Tyr	PROT:P01130	LDLR	C	681	Y	C681Y	Pathogenic/Likely pathogenic	1	2	19	32
MUT:LDLR:Cys68Arg	PROT:P01130	LDLR	C	68	R	C68R	Likely pathogenic	1	2	19	30
MUT:LDLR:Cys696Phe	PROT:P01130	LDLR	C	696	F	C696F	Likely pathogenic	1	1	19	17
MUT:LDLR:Cys696Trp	PROT:P01130	LDLR	C	696	W	C696W	Likely pathogenic	1	1	19	17
MUT:LDLR:Cys696Tyr	PROT:P01130	LDLR	C	696	Y	C696Y	Pathogenic/Likely pathogenic	1	1	19	17
MUT:LDLR:Cys698Arg	PROT:P01130	LDLR	C	698	R	C698R	Pathogenic/Likely pathogenic	1	1	19	15
MUT:LDLR:Cys698Phe	PROT:P01130	LDLR	C	698	F	C698F	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Cys698Ser	PROT:P01130	LDLR	C	698	S	C698S	Likely pathogenic	1	1	19	15
MUT:LDLR:Cys698Tyr	PROT:P01130	LDLR	C	698	Y	C698Y	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Cys711Gly	PROT:P01130	LDLR	C	711	G	C711G	Pathogenic	1	1	19	2
MUT:LDLR:Cys711Phe	PROT:P01130	LDLR	C	711	F	C711F	Likely pathogenic	1	1	19	2
MUT:LDLR:Cys711Ser	PROT:P01130	LDLR	C	711	S	C711S	Likely pathogenic	1	1	19	2
MUT:LDLR:Cys711Tyr	PROT:P01130	LDLR	C	711	Y	C711Y	Pathogenic/Likely pathogenic	1	1	19	2
MUT:LDLR:Cys75Ser	PROT:P01130	LDLR	C	75	S	C75S	Pathogenic/Likely pathogenic	1	2	19	35
MUT:LDLR:Cys75Trp	PROT:P01130	LDLR	C	75	W	C75W	Likely pathogenic	1	1	19	35
MUT:LDLR:Cys75Tyr	PROT:P01130	LDLR	C	75	Y	C75Y	Likely pathogenic	1	1	19	35
MUT:LDLR:Cys803Arg	PROT:P01130	LDLR	C	803	R	C803R	Likely pathogenic	1	1	19	17
MUT:LDLR:Cys82Gly	PROT:P01130	LDLR	C	82	G	C82G	Pathogenic/Likely pathogenic	1	2	19	28
MUT:LDLR:Cys82Phe	PROT:P01130	LDLR	C	82	F	C82F	Pathogenic/Likely pathogenic	1	2	19	28
MUT:LDLR:Cys82Ser	PROT:P01130	LDLR	C	82	S	C82S	Likely pathogenic	1	3	19	28
MUT:LDLR:Cys82Tyr	PROT:P01130	LDLR	C	82	Y	C82Y	Pathogenic/Likely pathogenic	1	1	19	28
MUT:LDLR:Cys89Arg	PROT:P01130	LDLR	C	89	R	C89R	Likely pathogenic	1	2	19	21
MUT:LDLR:Cys89Gly	PROT:P01130	LDLR	C	89	G	C89G	Likely pathogenic	1	1	19	21
MUT:LDLR:Cys89Trp	PROT:P01130	LDLR	C	89	W	C89W	Pathogenic/Likely pathogenic	1	2	19	21
MUT:LDLR:Cys89Tyr	PROT:P01130	LDLR	C	89	Y	C89Y	Pathogenic/Likely pathogenic	1	3	19	21
MUT:LDLR:Cys95Arg	PROT:P01130	LDLR	C	95	R	C95R	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Cys95Gly	PROT:P01130	LDLR	C	95	G	C95G	Likely pathogenic	1	2	19	15
MUT:LDLR:Cys95Phe	PROT:P01130	LDLR	C	95	F	C95F	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Cys95Ser	PROT:P01130	LDLR	C	95	S	C95S	Pathogenic/Likely pathogenic	1	1	19	15
MUT:LDLR:Cys95Trp	PROT:P01130	LDLR	C	95	W	C95W	Pathogenic	1	1	19	15
MUT:LDLR:Cys95Tyr	PROT:P01130	LDLR	C	95	Y	C95Y	Likely pathogenic	1	2	19	15
MUT:LDLR:Gln254Pro	PROT:P01130	LDLR	Q	254	P	Q254P	Pathogenic/Likely pathogenic	1	4	19	136
MUT:LDLR:Gln366Pro	PROT:P01130	LDLR	Q	366	P	Q366P	Likely pathogenic	1	1	19	24
MUT:LDLR:Gln378Pro	PROT:P01130	LDLR	Q	378	P	Q378P	Likely pathogenic	1	3	19	12
MUT:LDLR:Gln384Pro	PROT:P01130	LDLR	Q	384	P	Q384P	Pathogenic/Likely pathogenic	1	2	19	6
MUT:LDLR:Gln448Lys	PROT:P01130	LDLR	Q	448	K	Q448K	Pathogenic	1	1	19	22
MUT:LDLR:Gln448Pro	PROT:P01130	LDLR	Q	448	P	Q448P	Likely pathogenic	1	1	19	22
MUT:LDLR:Gln660Lys	PROT:P01130	LDLR	Q	660	K	Q660K	Likely pathogenic	1	1	19	53
MUT:LDLR:Gln660Pro	PROT:P01130	LDLR	Q	660	P	Q660P	Likely pathogenic	1	1	19	53
MUT:LDLR:Gln686Glu	PROT:P01130	LDLR	Q	686	E	Q686E	Likely pathogenic	1	1	19	27
MUT:LDLR:Gln829His	PROT:P01130	LDLR	Q	829	H	Q829H	Pathogenic	1	1	19	1
MUT:LDLR:Glu101Ala	PROT:P01130	LDLR	E	101	A	E101A	Pathogenic/Likely pathogenic	1	1	19	9
MUT:LDLR:Glu101Lys	PROT:P01130	LDLR	E	101	K	E101K	Pathogenic	1	5	19	9
MUT:LDLR:Glu113Lys	PROT:P01130	LDLR	E	113	K	E113K	Pathogenic	1	4	19	3
MUT:LDLR:Glu140Asp	PROT:P01130	LDLR	E	140	D	E140D	Pathogenic/Likely pathogenic	1	3	19	30
MUT:LDLR:Glu140Gly	PROT:P01130	LDLR	E	140	G	E140G	Pathogenic/Likely pathogenic	1	1	19	30
MUT:LDLR:Glu140Lys	PROT:P01130	LDLR	E	140	K	E140K	Pathogenic	1	2	19	30
MUT:LDLR:Glu179Gly	PROT:P01130	LDLR	E	179	G	E179G	Likely pathogenic	1	1	19	69
MUT:LDLR:Glu179Met	PROT:P01130	LDLR	E	179	M	E179M	Likely pathogenic	1	1	19	69
MUT:LDLR:Glu201Ala	PROT:P01130	LDLR	E	201	A	E201A	Likely pathogenic	1	1	19	91
MUT:LDLR:Glu201Lys	PROT:P01130	LDLR	E	201	K	E201K	Likely pathogenic	1	2	19	91
MUT:LDLR:Glu208Lys	PROT:P01130	LDLR	E	208	K	E208K	Pathogenic/Likely pathogenic	1	4	19	98
MUT:LDLR:Glu228Ala	PROT:P01130	LDLR	E	228	A	E228A	Pathogenic/Likely pathogenic	1	1	19	118
MUT:LDLR:Glu228Asp	PROT:P01130	LDLR	E	228	D	E228D	Pathogenic/Likely pathogenic	1	2	19	118
MUT:LDLR:Glu228Gln	PROT:P01130	LDLR	E	228	Q	E228Q	Pathogenic/Likely pathogenic	1	2	19	118
MUT:LDLR:Glu228Gly	PROT:P01130	LDLR	E	228	G	E228G	Pathogenic/Likely pathogenic	1	2	19	118
MUT:LDLR:Glu228Lys	PROT:P01130	LDLR	E	228	K	E228K	Pathogenic	1	4	19	118
MUT:LDLR:Glu229Val	PROT:P01130	LDLR	E	229	V	E229V	Likely pathogenic	1	1	19	119
MUT:LDLR:Glu240Lys	PROT:P01130	LDLR	E	240	K	E240K	Pathogenic	1	3	19	130
MUT:LDLR:Glu258Lys	PROT:P01130	LDLR	E	258	K	E258K	Likely benign	0	1	19	132
MUT:LDLR:Glu267Asp	PROT:P01130	LDLR	E	267	D	E267D	Likely pathogenic	1	2	19	123
MUT:LDLR:Glu288Lys	PROT:P01130	LDLR	E	288	K	E288K	Pathogenic	1	5	19	102
MUT:LDLR:Glu308Asp	PROT:P01130	LDLR	E	308	D	E308D	Likely pathogenic	1	1	19	82
MUT:LDLR:Glu308Lys	PROT:P01130	LDLR	E	308	K	E308K	Likely pathogenic	1	2	19	82
MUT:LDLR:Glu357Lys	PROT:P01130	LDLR	E	357	K	E357K	Likely pathogenic	1	3	19	33
MUT:LDLR:Glu408Lys	PROT:P01130	LDLR	E	408	K	E408K	Likely pathogenic	1	4	19	4
MUT:LDLR:Glu408Val	PROT:P01130	LDLR	E	408	V	E408V	Likely pathogenic	1	2	19	4
MUT:LDLR:Glu418Lys	PROT:P01130	LDLR	E	418	K	E418K	Pathogenic/Likely pathogenic	1	2	19	14
MUT:LDLR:Glu58Gly	PROT:P01130	LDLR	E	58	G	E58G	Likely pathogenic	1	2	19	20
MUT:LDLR:Glu58Lys	PROT:P01130	LDLR	E	58	K	E58K	Likely pathogenic	1	1	19	20
MUT:LDLR:Glu615Asp	PROT:P01130	LDLR	E	615	D	E615D	Likely pathogenic	1	1	19	12
MUT:LDLR:Glu615Val	PROT:P01130	LDLR	E	615	V	E615V	Pathogenic/Likely pathogenic	1	1	19	12
MUT:LDLR:Glu714Gln	PROT:P01130	LDLR	E	714	Q	E714Q	Likely pathogenic	1	1	19	1
MUT:LDLR:Glu714Lys	PROT:P01130	LDLR	E	714	K	E714K	Likely pathogenic	1	1	19	1
MUT:LDLR:Glu763Asp	PROT:P01130	LDLR	E	763	D	E763D	Benign/Likely benign	0	2	19	33
MUT:LDLR:Gly149Arg	PROT:P01130	LDLR	G	149	R	G149R	Pathogenic	1	1	19	39
MUT:LDLR:Gly176Val	PROT:P01130	LDLR	G	176	V	G176V	Likely pathogenic	1	1	19	66
MUT:LDLR:Gly207Cys	PROT:P01130	LDLR	G	207	C	G207C	Pathogenic	1	1	19	97
MUT:LDLR:Gly20Arg	PROT:P01130	LDLR	G	20	R	G20R	Benign	0	4	19	18
MUT:LDLR:Gly269Asp	PROT:P01130	LDLR	G	269	D	G269D	Likely benign	0	3	19	121
MUT:LDLR:Gly287Cys	PROT:P01130	LDLR	G	287	C	G287C	Pathogenic	1	2	19	103
MUT:LDLR:Gly323Asp	PROT:P01130	LDLR	G	323	D	G323D	Likely pathogenic	1	1	19	67
MUT:LDLR:Gly323Cys	PROT:P01130	LDLR	G	323	C	G323C	Likely pathogenic	1	1	19	67
MUT:LDLR:Gly323Val	PROT:P01130	LDLR	G	323	V	G323V	Pathogenic	1	1	19	67
MUT:LDLR:Gly324Ser	PROT:P01130	LDLR	G	324	S	G324S	Benign	0	3	19	66
MUT:LDLR:Gly335Cys	PROT:P01130	LDLR	G	335	C	G335C	Likely pathogenic	1	2	19	55
MUT:LDLR:Gly335Ser	PROT:P01130	LDLR	G	335	S	G335S	Likely pathogenic	1	4	19	55
MUT:LDLR:Gly343Ala	PROT:P01130	LDLR	G	343	A	G343A	Likely pathogenic	1	1	19	47
MUT:LDLR:Gly343Asp	PROT:P01130	LDLR	G	343	D	G343D	Likely pathogenic	1	1	19	47
MUT:LDLR:Gly343Cys	PROT:P01130	LDLR	G	343	C	G343C	Pathogenic	1	1	19	47
MUT:LDLR:Gly343Ser	PROT:P01130	LDLR	G	343	S	G343S	Pathogenic	1	4	19	47
MUT:LDLR:Gly343Val	PROT:P01130	LDLR	G	343	V	G343V	Likely pathogenic	1	2	19	47
MUT:LDLR:Gly373Ala	PROT:P01130	LDLR	G	373	A	G373A	Likely pathogenic	1	2	19	17
MUT:LDLR:Gly373Asp	PROT:P01130	LDLR	G	373	D	G373D	Pathogenic/Likely pathogenic	1	3	19	17
MUT:LDLR:Gly373Cys	PROT:P01130	LDLR	G	373	C	G373C	Likely pathogenic	1	2	19	17
MUT:LDLR:Gly373Val	PROT:P01130	LDLR	G	373	V	G373V	Pathogenic/Likely pathogenic	1	2	19	17
MUT:LDLR:Gly374Ser	PROT:P01130	LDLR	G	374	S	G374S	Likely benign	0	2	19	16
MUT:LDLR:Gly396Ser	PROT:P01130	LDLR	G	396	S	G396S	Likely pathogenic	1	1	19	1
MUT:LDLR:Gly461Cys	PROT:P01130	LDLR	G	461	C	G461C	Likely pathogenic	1	2	19	9
MUT:LDLR:Gly478Arg	PROT:P01130	LDLR	G	478	R	G478R	Pathogenic	1	4	19	8
MUT:LDLR:Gly478Glu	PROT:P01130	LDLR	G	478	E	G478E	Likely pathogenic	1	1	19	8
MUT:LDLR:Gly478Val	PROT:P01130	LDLR	G	478	V	G478V	Likely pathogenic	1	1	19	8
MUT:LDLR:Gly496Val	PROT:P01130	LDLR	G	496	V	G496V	Pathogenic/Likely pathogenic	1	2	19	21
MUT:LDLR:Gly545Arg	PROT:P01130	LDLR	G	545	R	G545R	Pathogenic/Likely pathogenic	1	2	19	28
MUT:LDLR:Gly545Glu	PROT:P01130	LDLR	G	545	E	G545E	Pathogenic/Likely pathogenic	1	3	19	28
MUT:LDLR:Gly545Trp	PROT:P01130	LDLR	G	545	W	G545W	Pathogenic/Likely pathogenic	1	2	19	28
MUT:LDLR:Gly546Arg	PROT:P01130	LDLR	G	546	R	G546R	Pathogenic/Likely pathogenic	1	2	19	29
MUT:LDLR:Gly546Asp	PROT:P01130	LDLR	G	546	D	G546D	Pathogenic/Likely pathogenic	1	2	19	29
MUT:LDLR:Gly546Val	PROT:P01130	LDLR	G	546	V	G546V	Pathogenic/Likely pathogenic	1	3	19	29
MUT:LDLR:Gly549Arg	PROT:P01130	LDLR	G	549	R	G549R	Likely pathogenic	1	1	19	32
MUT:LDLR:Gly549Asp	PROT:P01130	LDLR	G	549	D	G549D	Pathogenic/Likely pathogenic	1	3	19	32
MUT:LDLR:Gly549Val	PROT:P01130	LDLR	G	549	V	G549V	Likely pathogenic	1	1	19	32
MUT:LDLR:Gly565Ala	PROT:P01130	LDLR	G	565	A	G565A	Pathogenic/Likely pathogenic	1	2	19	31
MUT:LDLR:Gly565Arg	PROT:P01130	LDLR	G	565	R	G565R	Likely pathogenic	1	1	19	31
MUT:LDLR:Gly565Asp	PROT:P01130	LDLR	G	565	D	G565D	Likely pathogenic	1	2	19	31
MUT:LDLR:Gly565Cys	PROT:P01130	LDLR	G	565	C	G565C	Likely pathogenic	1	1	19	31
MUT:LDLR:Gly565Ser	PROT:P01130	LDLR	G	565	S	G565S	Likely pathogenic	1	1	19	31
MUT:LDLR:Gly565Val	PROT:P01130	LDLR	G	565	V	G565V	Pathogenic/Likely pathogenic	1	4	19	31
MUT:LDLR:Gly592Arg	PROT:P01130	LDLR	G	592	R	G592R	Likely pathogenic	1	3	19	4
MUT:LDLR:Gly592Glu	PROT:P01130	LDLR	G	592	E	G592E	Pathogenic	1	6	19	4
MUT:LDLR:Gly663Ala	PROT:P01130	LDLR	G	663	A	G663A	Pathogenic	1	1	19	50
MUT:LDLR:Gly663Glu	PROT:P01130	LDLR	G	663	E	G663E	Likely pathogenic	1	1	19	50
MUT:LDLR:Gly675Ser	PROT:P01130	LDLR	G	675	S	G675S	Likely pathogenic	1	2	19	38
MUT:LDLR:Gly676Arg	PROT:P01130	LDLR	G	676	R	G676R	Pathogenic/Likely pathogenic	1	2	19	37
MUT:LDLR:Gly676Cys	PROT:P01130	LDLR	G	676	C	G676C	Pathogenic	1	1	19	37
MUT:LDLR:Gly754Arg	PROT:P01130	LDLR	G	754	R	G754R	Benign	0	1	19	24
MUT:LDLR:Gly805Arg	PROT:P01130	LDLR	G	805	R	G805R	Likely pathogenic	1	2	19	15
MUT:LDLR:Gly805Glu	PROT:P01130	LDLR	G	805	E	G805E	Likely pathogenic	1	1	19	15
MUT:LDLR:Gly844Asp	PROT:P01130	LDLR	G	844	D	G844D	Likely pathogenic	1	2	19	1
MUT:LDLR:His117Tyr	PROT:P01130	LDLR	H	117	Y	H117Y	Likely benign	0	1	19	7
MUT:LDLR:His211Arg	PROT:P01130	LDLR	H	211	R	H211R	Likely pathogenic	1	1	19	101
MUT:LDLR:His211Gln	PROT:P01130	LDLR	H	211	Q	H211Q	Likely pathogenic	1	1	19	101
MUT:LDLR:His211Leu	PROT:P01130	LDLR	H	211	L	H211L	Pathogenic/Likely pathogenic	1	2	19	101
MUT:LDLR:His211Tyr	PROT:P01130	LDLR	H	211	Y	H211Y	Pathogenic/Likely pathogenic	1	3	19	101
MUT:LDLR:His583Arg	PROT:P01130	LDLR	H	583	R	H583R	Likely pathogenic	1	2	19	13
MUT:LDLR:His583Asp	PROT:P01130	LDLR	H	583	D	H583D	Likely pathogenic	1	1	19	13
MUT:LDLR:His583Gln	PROT:P01130	LDLR	H	583	Q	H583Q	Likely pathogenic	1	1	19	13
MUT:LDLR:His583Tyr	PROT:P01130	LDLR	H	583	Y	H583Y	Pathogenic	1	3	19	13
MUT:LDLR:His607Arg	PROT:P01130	LDLR	H	607	R	H607R	Likely pathogenic	1	1	19	4
MUT:LDLR:Ile122Phe	PROT:P01130	LDLR	I	122	F	I122F	Likely pathogenic	1	1	19	12
MUT:LDLR:Ile161Asn	PROT:P01130	LDLR	I	161	N	I161N	Likely pathogenic	1	2	19	51
MUT:LDLR:Ile161Met	PROT:P01130	LDLR	I	161	M	I161M	Likely pathogenic	1	1	19	51
MUT:LDLR:Ile161Thr	PROT:P01130	LDLR	I	161	T	I161T	Pathogenic	1	2	19	51
MUT:LDLR:Ile210Leu	PROT:P01130	LDLR	I	210	L	I210L	Pathogenic	1	1	19	100
MUT:LDLR:Ile210Thr	PROT:P01130	LDLR	I	210	T	I210T	Likely pathogenic	1	1	19	100
MUT:LDLR:Ile290Ser	PROT:P01130	LDLR	I	290	S	I290S	Likely pathogenic	1	1	19	100
MUT:LDLR:Ile310Thr	PROT:P01130	LDLR	I	310	T	I310T	Likely benign	0	1	19	80
MUT:LDLR:Ile423Thr	PROT:P01130	LDLR	I	423	T	I423T	Pathogenic/Likely pathogenic	1	2	19	19
MUT:LDLR:Ile441Thr	PROT:P01130	LDLR	I	441	T	I441T	Pathogenic	1	3	19	29
MUT:LDLR:Ile451Phe	PROT:P01130	LDLR	I	451	F	I451F	Likely pathogenic	1	2	19	19
MUT:LDLR:Ile451Thr	PROT:P01130	LDLR	I	451	T	I451T	Pathogenic/Likely pathogenic	1	3	19	19
MUT:LDLR:Ile473Asn	PROT:P01130	LDLR	I	473	N	I473N	Likely pathogenic	1	2	19	3
MUT:LDLR:Ile488Asn	PROT:P01130	LDLR	I	488	N	I488N	Likely pathogenic	1	2	19	18
MUT:LDLR:Ile488Thr	PROT:P01130	LDLR	I	488	T	I488T	Pathogenic/Likely pathogenic	1	2	19	18
MUT:LDLR:Ile542Ser	PROT:P01130	LDLR	I	542	S	I542S	Pathogenic/Likely pathogenic	1	1	19	25
MUT:LDLR:Ile585Asn	PROT:P01130	LDLR	I	585	N	I585N	Likely pathogenic	1	1	19	11
MUT:LDLR:Ile585Thr	PROT:P01130	LDLR	I	585	T	I585T	Pathogenic/Likely pathogenic	1	2	19	11
MUT:LDLR:Ile764Thr	PROT:P01130	LDLR	I	764	T	I764T	Likely benign	0	2	19	34
MUT:LDLR:Leu15Arg	PROT:P01130	LDLR	L	15	R	L15R	Likely pathogenic	1	1	19	23
MUT:LDLR:Leu15Pro	PROT:P01130	LDLR	L	15	P	L15P	Likely pathogenic	1	2	19	23
MUT:LDLR:Leu16Phe	PROT:P01130	LDLR	L	16	F	L16F	Likely benign	0	1	19	22
MUT:LDLR:Leu401Val	PROT:P01130	LDLR	L	401	V	L401V	Pathogenic/Likely pathogenic	1	4	19	3
MUT:LDLR:Leu414Gln	PROT:P01130	LDLR	L	414	Q	L414Q	Likely pathogenic	1	2	19	10
MUT:LDLR:Leu426Arg	PROT:P01130	LDLR	L	426	R	L426R	Likely pathogenic	1	2	19	22
MUT:LDLR:Leu426Pro	PROT:P01130	LDLR	L	426	P	L426P	Likely pathogenic	1	2	19	22
MUT:LDLR:Leu432Met	PROT:P01130	LDLR	L	432	M	L432M	Likely pathogenic	1	1	19	28
MUT:LDLR:Leu432Pro	PROT:P01130	LDLR	L	432	P	L432P	Likely pathogenic	1	2	19	28
MUT:LDLR:Leu479Gln	PROT:P01130	LDLR	L	479	Q	L479Q	Likely pathogenic	1	2	19	9
MUT:LDLR:Leu511Ser	PROT:P01130	LDLR	L	511	S	L511S	Likely pathogenic	1	1	19	6
MUT:LDLR:Leu555Arg	PROT:P01130	LDLR	L	555	R	L555R	Likely pathogenic	1	1	19	38
MUT:LDLR:Leu555Pro	PROT:P01130	LDLR	L	555	P	L555P	Likely pathogenic	1	1	19	38
MUT:LDLR:Leu568Pro	PROT:P01130	LDLR	L	568	P	L568P	Pathogenic/Likely pathogenic	1	1	19	28
MUT:LDLR:Leu568Val	PROT:P01130	LDLR	L	568	V	L568V	Pathogenic/Likely pathogenic	1	2	19	28
MUT:LDLR:Leu575His	PROT:P01130	LDLR	L	575	H	L575H	Likely pathogenic	1	1	19	21
MUT:LDLR:Leu582Pro	PROT:P01130	LDLR	L	582	P	L582P	Pathogenic/Likely pathogenic	1	2	19	14
MUT:LDLR:Leu599Ser	PROT:P01130	LDLR	L	599	S	L599S	Likely pathogenic	1	2	19	3
MUT:LDLR:Leu605Pro	PROT:P01130	LDLR	L	605	P	L605P	Likely pathogenic	1	1	19	2
MUT:LDLR:Leu611Phe	PROT:P01130	LDLR	L	611	F	L611F	Pathogenic/Likely pathogenic	1	2	19	8
MUT:LDLR:Leu642Ser	PROT:P01130	LDLR	L	642	S	L642S	Likely pathogenic	1	1	19	39
MUT:LDLR:Leu646Gln	PROT:P01130	LDLR	L	646	Q	L646Q	Pathogenic	1	1	19	43
MUT:LDLR:Leu654Arg	PROT:P01130	LDLR	L	654	R	L654R	Likely pathogenic	1	1	19	51
MUT:LDLR:Leu658Pro	PROT:P01130	LDLR	L	658	P	L658P	Likely pathogenic	1	1	19	55
MUT:LDLR:Leu682Arg	PROT:P01130	LDLR	L	682	R	L682R	Likely pathogenic	1	1	19	31
MUT:LDLR:Leu682Phe	PROT:P01130	LDLR	L	682	F	L682F	Pathogenic	1	1	19	31
MUT:LDLR:Leu799Arg	PROT:P01130	LDLR	L	799	R	L799R	Likely pathogenic	1	1	19	21
MUT:LDLR:Leu808Val	PROT:P01130	LDLR	L	808	V	L808V	Pathogenic	1	1	19	12
MUT:LDLR:Lys223Asn	PROT:P01130	LDLR	K	223	N	K223N	Likely pathogenic	1	2	19	113
MUT:LDLR:Lys294Glu	PROT:P01130	LDLR	K	294	E	K294E	Likely pathogenic	1	1	19	96
MUT:LDLR:Lys393Gln	PROT:P01130	LDLR	K	393	Q	K393Q	Likely pathogenic	1	1	19	3
MUT:LDLR:Lys393Glu	PROT:P01130	LDLR	K	393	E	K393E	Pathogenic/Likely pathogenic	1	1	19	3
MUT:LDLR:Lys393Thr	PROT:P01130	LDLR	K	393	T	K393T	Pathogenic	1	1	19	3
MUT:LDLR:Lys411Glu	PROT:P01130	LDLR	K	411	E	K411E	Likely pathogenic	1	1	19	7
MUT:LDLR:Lys507Asn	PROT:P01130	LDLR	K	507	N	K507N	Pathogenic	1	1	19	10
MUT:LDLR:Lys507Thr	PROT:P01130	LDLR	K	507	T	K507T	Likely pathogenic	1	1	19	10
MUT:LDLR:Lys509Glu	PROT:P01130	LDLR	K	509	E	K509E	Likely pathogenic	1	1	19	8
MUT:LDLR:Lys603Asn	PROT:P01130	LDLR	K	603	N	K603N	Likely benign	0	1	19	0
MUT:LDLR:Met1Ile	PROT:P01130	LDLR	M	1	I	M1I	Likely pathogenic	1	1	19	37
MUT:LDLR:Met1Leu	PROT:P01130	LDLR	M	1	L	M1L	Pathogenic	1	2	19	37
MUT:LDLR:Met1Thr	PROT:P01130	LDLR	M	1	T	M1T	Likely pathogenic	1	2	19	37
MUT:LDLR:Met1Val	PROT:P01130	LDLR	M	1	V	M1V	Likely pathogenic	1	2	19	37
MUT:LDLR:Met264Val	PROT:P01130	LDLR	M	264	V	M264V	Likely benign	0	1	19	126
MUT:LDLR:Met412Ile	PROT:P01130	LDLR	M	412	I	M412I	Likely benign	0	1	19	8
MUT:LDLR:Met412Leu	PROT:P01130	LDLR	M	412	L	M412L	Pathogenic	1	2	19	8
MUT:LDLR:Met412Thr	PROT:P01130	LDLR	M	412	T	M412T	Pathogenic/Likely pathogenic	1	2	19	8
MUT:LDLR:Met531Lys	PROT:P01130	LDLR	M	531	K	M531K	Likely pathogenic	1	2	19	14
MUT:LDLR:Met652Thr	PROT:P01130	LDLR	M	652	T	M652T	Likely pathogenic	1	2	19	49
MUT:LDLR:Phe126Leu	PROT:P01130	LDLR	F	126	L	F126L	Likely pathogenic	1	2	19	16
MUT:LDLR:Phe126Ser	PROT:P01130	LDLR	F	126	S	F126S	Pathogenic/Likely pathogenic	1	1	19	16
MUT:LDLR:Phe126Tyr	PROT:P01130	LDLR	F	126	Y	F126Y	Likely pathogenic	1	1	19	16
MUT:LDLR:Phe153Cys	PROT:P01130	LDLR	F	153	C	F153C	Likely pathogenic	1	1	19	43
MUT:LDLR:Phe153Leu	PROT:P01130	LDLR	F	153	L	F153L	Likely pathogenic	1	1	19	43
MUT:LDLR:Phe153Val	PROT:P01130	LDLR	F	153	V	F153V	Likely pathogenic	1	1	19	43
MUT:LDLR:Phe200Leu	PROT:P01130	LDLR	F	200	L	F200L	Likely benign	0	2	19	90
MUT:LDLR:Phe282Leu	PROT:P01130	LDLR	F	282	L	F282L	Likely pathogenic	1	2	19	108
MUT:LDLR:Phe32Cys	PROT:P01130	LDLR	F	32	C	F32C	Likely pathogenic	1	1	19	6
MUT:LDLR:Phe402Ser	PROT:P01130	LDLR	F	402	S	F402S	Likely pathogenic	1	1	19	2
MUT:LDLR:Phe614Ile	PROT:P01130	LDLR	F	614	I	F614I	Likely pathogenic	1	1	19	11
MUT:LDLR:Phe614Val	PROT:P01130	LDLR	F	614	V	F614V	Likely pathogenic	1	1	19	11
MUT:LDLR:Phe619Cys	PROT:P01130	LDLR	F	619	C	F619C	Likely pathogenic	1	1	19	16
MUT:LDLR:Phe619Leu	PROT:P01130	LDLR	F	619	L	F619L	Likely pathogenic	1	2	19	16
MUT:LDLR:Phe619Ser	PROT:P01130	LDLR	F	619	S	F619S	Likely pathogenic	1	2	19	16
MUT:LDLR:Phe629Cys	PROT:P01130	LDLR	F	629	C	F629C	Likely pathogenic	1	2	19	26
MUT:LDLR:Phe655Leu	PROT:P01130	LDLR	F	655	L	F655L	Likely pathogenic	1	2	19	52
MUT:LDLR:Phe694Val	PROT:P01130	LDLR	F	694	V	F694V	Likely pathogenic	1	1	19	19
MUT:LDLR:Pro181Arg	PROT:P01130	LDLR	P	181	R	P181R	Likely pathogenic	1	3	19	71
MUT:LDLR:Pro181Leu	PROT:P01130	LDLR	P	181	L	P181L	Pathogenic/Likely pathogenic	1	2	19	71
MUT:LDLR:Pro196Thr	PROT:P01130	LDLR	P	196	T	P196T	Pathogenic	1	1	19	86
MUT:LDLR:Pro341Arg	PROT:P01130	LDLR	P	341	R	P341R	Likely benign	0	1	19	49
MUT:LDLR:Pro361Ser	PROT:P01130	LDLR	P	361	S	P361S	Pathogenic	1	1	19	29
MUT:LDLR:Pro476Ser	PROT:P01130	LDLR	P	476	S	P476S	Likely pathogenic	1	1	19	6
MUT:LDLR:Pro563Ser	PROT:P01130	LDLR	P	563	S	P563S	Pathogenic/Likely pathogenic	1	2	19	33
MUT:LDLR:Pro608Arg	PROT:P01130	LDLR	P	608	R	P608R	Likely pathogenic	1	1	19	5
MUT:LDLR:Pro608His	PROT:P01130	LDLR	P	608	H	P608H	Pathogenic/Likely pathogenic	1	2	19	5
MUT:LDLR:Pro608Leu	PROT:P01130	LDLR	P	608	L	P608L	Pathogenic/Likely pathogenic	1	3	19	5
MUT:LDLR:Pro608Ser	PROT:P01130	LDLR	P	608	S	P608S	Pathogenic/Likely pathogenic	1	2	19	5
MUT:LDLR:Pro608Thr	PROT:P01130	LDLR	P	608	T	P608T	Pathogenic/Likely pathogenic	1	2	19	5
MUT:LDLR:Pro661Ala	PROT:P01130	LDLR	P	661	A	P661A	Likely pathogenic	1	2	19	52
MUT:LDLR:Pro685Ala	PROT:P01130	LDLR	P	685	A	P685A	Likely pathogenic	1	1	19	28
MUT:LDLR:Pro685Arg	PROT:P01130	LDLR	P	685	R	P685R	Likely pathogenic	1	1	19	28
MUT:LDLR:Pro685Gln	PROT:P01130	LDLR	P	685	Q	P685Q	Likely pathogenic	1	1	19	28
MUT:LDLR:Pro685Leu	PROT:P01130	LDLR	P	685	L	P685L	Pathogenic/Likely pathogenic	1	5	19	28
MUT:LDLR:Pro685Ser	PROT:P01130	LDLR	P	685	S	P685S	Pathogenic/Likely pathogenic	1	1	19	28
MUT:LDLR:Pro685Thr	PROT:P01130	LDLR	P	685	T	P685T	Likely pathogenic	1	1	19	28
MUT:LDLR:Ser123Thr	PROT:P01130	LDLR	S	123	T	S123T	Likely benign	0	1	19	13
MUT:LDLR:Ser158Cys	PROT:P01130	LDLR	S	158	C	S158C	Likely pathogenic	1	1	19	48
MUT:LDLR:Ser177Leu	PROT:P01130	LDLR	S	177	L	S177L	Pathogenic	1	2	19	67
MUT:LDLR:Ser177Pro	PROT:P01130	LDLR	S	177	P	S177P	Likely pathogenic	1	1	19	67
MUT:LDLR:Ser206Arg	PROT:P01130	LDLR	S	206	R	S206R	Pathogenic/Likely pathogenic	1	1	19	96
MUT:LDLR:Ser226Cys	PROT:P01130	LDLR	S	226	C	S226C	Likely pathogenic	1	2	19	116
MUT:LDLR:Ser226Pro	PROT:P01130	LDLR	S	226	P	S226P	Pathogenic/Likely pathogenic	1	2	19	116
MUT:LDLR:Ser286Arg	PROT:P01130	LDLR	S	286	R	S286R	Likely pathogenic	1	3	19	104
MUT:LDLR:Ser306Leu	PROT:P01130	LDLR	S	306	L	S306L	Pathogenic/Likely pathogenic	1	3	19	84
MUT:LDLR:Ser326Cys	PROT:P01130	LDLR	S	326	C	S326C	Pathogenic	1	2	19	64
MUT:LDLR:Ser326Phe	PROT:P01130	LDLR	S	326	F	S326F	Likely pathogenic	1	1	19	64
MUT:LDLR:Ser421Gly	PROT:P01130	LDLR	S	421	G	S421G	Likely benign	0	1	19	17
MUT:LDLR:Ser444Phe	PROT:P01130	LDLR	S	444	F	S444F	Likely pathogenic	1	2	19	26
MUT:LDLR:Ser447Pro	PROT:P01130	LDLR	S	447	P	S447P	Likely pathogenic	1	1	19	23
MUT:LDLR:Ser499Pro	PROT:P01130	LDLR	S	499	P	S499P	Likely pathogenic	1	2	19	18
MUT:LDLR:Ser49Arg	PROT:P01130	LDLR	S	49	R	S49R	Likely benign	0	2	19	11
MUT:LDLR:Ser517Phe	PROT:P01130	LDLR	S	517	F	S517F	Pathogenic	1	1	19	0
MUT:LDLR:Ser56Pro	PROT:P01130	LDLR	S	56	P	S56P	Pathogenic/Likely pathogenic	1	2	19	18
MUT:LDLR:Ser572Asn	PROT:P01130	LDLR	S	572	N	S572N	Likely benign	0	1	19	24
MUT:LDLR:Ser580Phe	PROT:P01130	LDLR	S	580	F	S580F	Likely pathogenic	1	2	19	16
MUT:LDLR:Ser584Pro	PROT:P01130	LDLR	S	584	P	S584P	Likely pathogenic	1	2	19	12
MUT:LDLR:Ser586Pro	PROT:P01130	LDLR	S	586	P	S586P	Likely pathogenic	1	1	19	10
MUT:LDLR:Ser610Cys	PROT:P01130	LDLR	S	610	C	S610C	Likely pathogenic	1	1	19	7
MUT:LDLR:Ser610Pro	PROT:P01130	LDLR	S	610	P	S610P	Likely pathogenic	1	1	19	7
MUT:LDLR:Ser610Tyr	PROT:P01130	LDLR	S	610	Y	S610Y	Likely pathogenic	1	1	19	7
MUT:LDLR:Ser648Pro	PROT:P01130	LDLR	S	648	P	S648P	Likely pathogenic	1	2	19	45
MUT:LDLR:Thr147Ile	PROT:P01130	LDLR	T	147	I	T147I	Likely pathogenic	1	2	19	37
MUT:LDLR:Thr159Ile	PROT:P01130	LDLR	T	159	I	T159I	Likely benign	0	1	19	49
MUT:LDLR:Thr274Ser	PROT:P01130	LDLR	T	274	S	T274S	Likely benign	0	1	19	116
MUT:LDLR:Thr389Ala	PROT:P01130	LDLR	T	389	A	T389A	Likely pathogenic	1	1	19	1
MUT:LDLR:Thr389Lys	PROT:P01130	LDLR	T	389	K	T389K	Likely pathogenic	1	1	19	1
MUT:LDLR:Thr404Ile	PROT:P01130	LDLR	T	404	I	T404I	Likely pathogenic	1	3	19	0
MUT:LDLR:Thr413Met	PROT:P01130	LDLR	T	413	M	T413M	Likely pathogenic	1	3	19	9
MUT:LDLR:Thr420Ala	PROT:P01130	LDLR	T	420	A	T420A	Likely benign	0	1	19	16
MUT:LDLR:Thr434Arg	PROT:P01130	LDLR	T	434	R	T434R	Pathogenic	1	2	19	30
MUT:LDLR:Thr434Lys	PROT:P01130	LDLR	T	434	K	T434K	Likely pathogenic	1	2	19	30
MUT:LDLR:Thr454Asn	PROT:P01130	LDLR	T	454	N	T454N	Likely pathogenic	1	1	19	16
MUT:LDLR:Thr621Arg	PROT:P01130	LDLR	T	621	R	T621R	Pathogenic/Likely pathogenic	1	2	19	18
MUT:LDLR:Thr659Pro	PROT:P01130	LDLR	T	659	P	T659P	Likely pathogenic	1	1	19	54
MUT:LDLR:Thr726Ile	PROT:P01130	LDLR	T	726	I	T726I	Benign	0	2	19	2
MUT:LDLR:Trp10Arg	PROT:P01130	LDLR	W	10	R	W10R	Likely pathogenic	1	2	19	28
MUT:LDLR:Trp165Gly	PROT:P01130	LDLR	W	165	G	W165G	Likely pathogenic	1	1	19	55
MUT:LDLR:Trp165Leu	PROT:P01130	LDLR	W	165	L	W165L	Pathogenic	1	1	19	55
MUT:LDLR:Trp214Ser	PROT:P01130	LDLR	W	214	S	W214S	Likely pathogenic	1	1	19	104
MUT:LDLR:Trp443Arg	PROT:P01130	LDLR	W	443	R	W443R	Likely pathogenic	1	2	19	27
MUT:LDLR:Trp443Cys	PROT:P01130	LDLR	W	443	C	W443C	Pathogenic	1	3	19	27
MUT:LDLR:Trp443Ser	PROT:P01130	LDLR	W	443	S	W443S	Likely pathogenic	1	1	19	27
MUT:LDLR:Trp490Arg	PROT:P01130	LDLR	W	490	R	W490R	Pathogenic/Likely pathogenic	1	2	19	20
MUT:LDLR:Trp490Cys	PROT:P01130	LDLR	W	490	C	W490C	Likely pathogenic	1	2	19	20
MUT:LDLR:Trp490Gly	PROT:P01130	LDLR	W	490	G	W490G	Likely pathogenic	1	2	19	20
MUT:LDLR:Trp490Leu	PROT:P01130	LDLR	W	490	L	W490L	Pathogenic	1	1	19	20
MUT:LDLR:Trp533Arg	PROT:P01130	LDLR	W	533	R	W533R	Pathogenic/Likely pathogenic	1	2	19	16
MUT:LDLR:Trp533Cys	PROT:P01130	LDLR	W	533	C	W533C	Likely pathogenic	1	1	19	16
MUT:LDLR:Trp536Gly	PROT:P01130	LDLR	W	536	G	W536G	Likely pathogenic	1	2	19	19
MUT:LDLR:Trp577Arg	PROT:P01130	LDLR	W	577	R	W577R	Pathogenic/Likely pathogenic	1	2	19	19
MUT:LDLR:Trp577Gly	PROT:P01130	LDLR	W	577	G	W577G	Pathogenic	1	2	19	19
MUT:LDLR:Trp577Ser	PROT:P01130	LDLR	W	577	S	W577S	Pathogenic/Likely pathogenic	1	3	19	19
MUT:LDLR:Trp620Arg	PROT:P01130	LDLR	W	620	R	W620R	Likely pathogenic	1	1	19	17
MUT:LDLR:Trp87Gly	PROT:P01130	LDLR	W	87	G	W87G	Pathogenic	1	4	19	23
MUT:LDLR:Tyr375Asp	PROT:P01130	LDLR	Y	375	D	Y375D	Likely pathogenic	1	1	19	15
MUT:LDLR:Tyr375Cys	PROT:P01130	LDLR	Y	375	C	Y375C	Pathogenic/Likely pathogenic	1	4	19	15
MUT:LDLR:Tyr375Ser	PROT:P01130	LDLR	Y	375	S	Y375S	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Tyr419Asp	PROT:P01130	LDLR	Y	419	D	Y419D	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Tyr419Cys	PROT:P01130	LDLR	Y	419	C	Y419C	Likely pathogenic	1	1	19	15
MUT:LDLR:Tyr419His	PROT:P01130	LDLR	Y	419	H	Y419H	Pathogenic/Likely pathogenic	1	2	19	15
MUT:LDLR:Tyr442Asn	PROT:P01130	LDLR	Y	442	N	Y442N	Likely pathogenic	1	1	19	28
MUT:LDLR:Tyr442Cys	PROT:P01130	LDLR	Y	442	C	Y442C	Pathogenic/Likely pathogenic	1	1	19	28
MUT:LDLR:Tyr532Asn	PROT:P01130	LDLR	Y	532	N	Y532N	Pathogenic	1	1	19	15
MUT:LDLR:Tyr576Cys	PROT:P01130	LDLR	Y	576	C	Y576C	Pathogenic/Likely pathogenic	1	2	19	20
MUT:LDLR:Tyr576Ser	PROT:P01130	LDLR	Y	576	S	Y576S	Likely pathogenic	1	1	19	20
MUT:LDLR:Tyr828Cys	PROT:P01130	LDLR	Y	828	C	Y828C	Pathogenic/Likely pathogenic	1	2	19	0
MUT:LDLR:Tyr828His	PROT:P01130	LDLR	Y	828	H	Y828H	Likely pathogenic	1	1	19	0
MUT:LDLR:Tyr828Ser	PROT:P01130	LDLR	Y	828	S	Y828S	Likely pathogenic	1	2	19	0
MUT:LDLR:Val127Asp	PROT:P01130	LDLR	V	127	D	V127D	Pathogenic/Likely pathogenic	1	2	19	17
MUT:LDLR:Val127Gly	PROT:P01130	LDLR	V	127	G	V127G	Pathogenic	1	1	19	17
MUT:LDLR:Val429Leu	PROT:P01130	LDLR	V	429	L	V429L	Pathogenic	1	2	19	25
MUT:LDLR:Val429Met	PROT:P01130	LDLR	V	429	M	V429M	Pathogenic	1	5	19	25
MUT:LDLR:Val436Ala	PROT:P01130	LDLR	V	436	A	V436A	Pathogenic/Likely pathogenic	1	2	19	32
MUT:LDLR:Val436Glu	PROT:P01130	LDLR	V	436	E	V436E	Likely pathogenic	1	1	19	32
MUT:LDLR:Val498Phe	PROT:P01130	LDLR	V	498	F	V498F	Likely benign	0	1	19	19
MUT:LDLR:Val523Leu	PROT:P01130	LDLR	V	523	L	V523L	Likely pathogenic	1	2	19	6
MUT:LDLR:Val523Met	PROT:P01130	LDLR	V	523	M	V523M	Pathogenic	1	3	19	6
MUT:LDLR:Val639Asp	PROT:P01130	LDLR	V	639	D	V639D	Pathogenic	1	2	19	36
MUT:LDLR:Val639Gly	PROT:P01130	LDLR	V	639	G	V639G	Likely pathogenic	1	1	19	36
MUT:LDLR:Val719Leu	PROT:P01130	LDLR	V	719	L	V719L	Likely benign	0	1	19	5
MUT:LDLR:Val765Gly	PROT:P01130	LDLR	V	765	G	V765G	Likely benign	0	1	19	35
MUT:LDLR:Val797Leu	PROT:P01130	LDLR	V	797	L	V797L	Pathogenic/Likely pathogenic	1	3	19	23
MUT:LDLR:Val797Met	PROT:P01130	LDLR	V	797	M	V797M	Pathogenic/Likely pathogenic	1	4	19	23
MUT:LDLR:Val800Ile	PROT:P01130	LDLR	V	800	I	V800I	Benign/Likely benign	0	2	19	20
MUT:LDLR:Val806Asp	PROT:P01130	LDLR	V	806	D	V806D	Likely benign	0	1	19	14
MUT:LDLR:Val859Met	PROT:P01130	LDLR	V	859	M	V859M	Likely benign	0	2	19	10
MUT:LEFTY2:Arg72Cys	PROT:O00292	LEFTY2	R	72	C	R72C	Benign/Likely benign	0	1	2	7
MUT:LEFTY2:Asp250Asn	PROT:O00292	LEFTY2	D	250	N	D250N	Likely benign	0	1	2	92
MUT:LEFTY2:Gln142Arg	PROT:O00292	LEFTY2	Q	142	R	Q142R	Benign	0	2	2	63
MUT:LEFTY2:Pro286Leu	PROT:O00292	LEFTY2	P	286	L	P286L	Benign	0	1	2	56
MUT:LEFTY2:Val328Ile	PROT:O00292	LEFTY2	V	328	I	V328I	Benign	0	1	2	14
MUT:LEFTY2:Val57Met	PROT:O00292	LEFTY2	V	57	M	V57M	Benign/Likely benign	0	1	2	22
MUT:LENG8:Arg430Cys	PROT:Q96PV6	LENG8	R	430	C	R430C	Benign	0	1	1	79
MUT:LENG8:Gln85His	PROT:Q96PV6	LENG8	Q	85	H	Q85H	Benign	0	1	1	266
MUT:LENG8:Ile557Val	PROT:Q96PV6	LENG8	I	557	V	I557V	Benign	0	1	1	206
MUT:LETM1:Ala651Thr	PROT:O95202	LETM1	A	651	T	A651T	Likely benign	0	1	13	15
MUT:LETM1:Arg294Gln	PROT:O95202	LETM1	R	294	Q	R294Q	Pathogenic	1	2	13	2
MUT:LETM1:Arg380Pro	PROT:O95202	LETM1	R	380	P	R380P	Pathogenic	1	1	13	7
MUT:LETM1:Arg66Gly	PROT:O95202	LETM1	R	66	G	R66G	Likely benign	0	1	13	60
MUT:LETM1:Asn131Lys	PROT:O95202	LETM1	N	131	K	N131K	Benign/Likely benign	0	1	13	5
MUT:LETM1:Asn46Ser	PROT:O95202	LETM1	N	46	S	N46S	Likely benign	0	1	13	80
MUT:LETM1:Asn646Thr	PROT:O95202	LETM1	N	646	T	N646T	Likely benign	0	1	13	20
MUT:LETM1:Asp358Asn	PROT:O95202	LETM1	D	358	N	D358N	Pathogenic	1	1	13	15
MUT:LETM1:His109Arg	PROT:O95202	LETM1	H	109	R	H109R	Benign	0	1	13	17
MUT:LETM1:Ile293Asn	PROT:O95202	LETM1	I	293	N	I293N	Pathogenic	1	2	13	1
MUT:LETM1:Pro300Ser	PROT:O95202	LETM1	P	300	S	P300S	Likely pathogenic	1	1	13	8
MUT:LETM1:Ser84Leu	PROT:O95202	LETM1	S	84	L	S84L	Likely benign	0	1	13	42
MUT:LETM1:Thr91Ala	PROT:O95202	LETM1	T	91	A	T91A	Likely benign	0	1	13	35
MUT:LGI1:Arg136Trp	PROT:O95970	LGI1	R	136	W	R136W	Pathogenic/Likely pathogenic	1	3	2	109
MUT:LGI1:Arg474Gln	PROT:O95970	LGI1	R	474	Q	R474Q	Likely pathogenic	1	1	2	447
MUT:LGI1:Asn342Lys	PROT:O95970	LGI1	N	342	K	N342K	Likely benign	0	1	2	315
MUT:LGI1:Cys286Gly	PROT:O95970	LGI1	C	286	G	C286G	Likely pathogenic	1	1	2	259
MUT:LGI1:Cys46Arg	PROT:O95970	LGI1	C	46	R	C46R	Pathogenic	1	2	2	19
MUT:LGI1:Cys48Phe	PROT:O95970	LGI1	C	48	F	C48F	Pathogenic	1	1	2	21
MUT:LGI1:Glu383Ala	PROT:O95970	LGI1	E	383	A	E383A	Pathogenic	1	1	2	356
MUT:LGI1:Ile122Lys	PROT:O95970	LGI1	I	122	K	I122K	Pathogenic	1	1	2	95
MUT:LGI1:Ile122Thr	PROT:O95970	LGI1	I	122	T	I122T	Likely pathogenic	1	1	2	95
MUT:LGI1:Ile491Val	PROT:O95970	LGI1	I	491	V	I491V	Benign/Likely benign	0	1	2	464
MUT:LGI1:Ile82Thr	PROT:O95970	LGI1	I	82	T	I82T	Pathogenic	1	1	2	55
MUT:LGI1:Leu232Pro	PROT:O95970	LGI1	L	232	P	L232P	Pathogenic	1	1	2	205
MUT:LGI1:Phe318Cys	PROT:O95970	LGI1	F	318	C	F318C	Pathogenic	1	1	2	291
MUT:LGI1:Phe318Ser	PROT:O95970	LGI1	F	318	S	F318S	Likely pathogenic	1	1	2	291
MUT:LGI1:Phe338Ser	PROT:O95970	LGI1	F	338	S	F338S	Pathogenic	1	1	2	311
MUT:LGI1:Ser473Leu	PROT:O95970	LGI1	S	473	L	S473L	Pathogenic/Likely pathogenic	1	3	2	446
MUT:LGI1:Ser524Pro	PROT:O95970	LGI1	S	524	P	S524P	Pathogenic	1	1	2	497
MUT:LGI1:Tyr368Cys	PROT:O95970	LGI1	Y	368	C	Y368C	Likely benign	0	1	2	341
MUT:LGI2:Arg26Trp	PROT:Q8N0V4	LGI2	R	26	W	R26W	Likely benign	0	1	2	148
MUT:LHX3:Ala210Val	PROT:Q9UBR4	LHX3	A	210	V	A210V	Likely pathogenic	1	2	4	34
MUT:LHX3:Glu247Lys	PROT:Q9UBR4	LHX3	E	247	K	E247K	Likely benign	0	1	4	71
MUT:LHX3:Gly237Ser	PROT:Q9UBR4	LHX3	G	237	S	G237S	Likely benign	0	1	4	61
MUT:LHX3:His185Gln	PROT:Q9UBR4	LHX3	H	185	Q	H185Q	Likely benign	0	1	4	9
MUT:LHX3:Thr194Arg	PROT:Q9UBR4	LHX3	T	194	R	T194R	Likely pathogenic	1	1	4	18
MUT:LHX3:Tyr111Cys	PROT:Q9UBR4	LHX3	Y	111	C	Y111C	Pathogenic	1	1	4	40
MUT:LIAS:Ala355Pro	PROT:O43766	LIAS	A	355	P	A355P	Likely pathogenic	1	1	1	332
MUT:LIAS:Arg19Ser	PROT:O43766	LIAS	R	19	S	R19S	Benign/Likely benign	0	2	1	4
MUT:LIAS:Glu159Lys	PROT:O43766	LIAS	E	159	K	E159K	Pathogenic	1	1	1	136
MUT:LIAS:Thr196Asn	PROT:O43766	LIAS	T	196	N	T196N	Likely pathogenic	1	1	1	173
MUT:LIG1:Ala24Val	PROT:P18858	LIG1	A	24	V	A24V	Benign	0	5	50	16
MUT:LIG1:Arg235Trp	PROT:P18858	LIG1	R	235	W	R235W	Likely benign	0	1	50	2
MUT:LIG1:Arg677Leu	PROT:P18858	LIG1	R	677	L	R677L	Benign	0	9	50	38
MUT:LIG1:Glu566Lys	PROT:P18858	LIG1	E	566	K	E566K	Pathogenic	1	1	50	2
MUT:LIG1:Gly249Glu	PROT:P18858	LIG1	G	249	E	G249E	Benign	0	1	50	5
MUT:LIG1:Met480Val	PROT:P18858	LIG1	M	480	V	M480V	Benign	0	1	50	13
MUT:LIG1:Ser47Phe	PROT:P18858	LIG1	S	47	F	S47F	Benign/Likely benign	0	1	50	0
MUT:LIG1:Thr614Ile	PROT:P18858	LIG1	T	614	I	T614I	Benign	0	1	50	16
MUT:LIG1:Val753Met	PROT:P18858	LIG1	V	753	M	V753M	Benign/Likely benign	0	1	50	16
MUT:LIM2:Ala87Thr	PROT:P55344	LIM2	A	87	T	A87T	Likely benign	0	1	4	13
MUT:LIM2:Arg130Cys	PROT:P55344	LIM2	R	130	C	R130C	Pathogenic/Likely pathogenic	1	3	4	21
MUT:LIM2:Gly154Glu	PROT:P55344	LIM2	G	154	E	G154E	Pathogenic	1	1	4	16
MUT:LIM2:Phe105Val	PROT:P55344	LIM2	F	105	V	F105V	Pathogenic	1	1	4	3
MUT:LIPE:Ala1057Pro	PROT:Q05469	LIPE	A	1057	P	A1057P	Likely benign	0	1	10	107
MUT:LIPE:Ala194Val	PROT:Q05469	LIPE	A	194	V	A194V	Likely benign	0	1	10	2
MUT:LIPE:Ala676Val	PROT:Q05469	LIPE	A	676	V	A676V	Likely benign	0	1	10	16
MUT:LIPE:Arg217Gln	PROT:Q05469	LIPE	R	217	Q	R217Q	Benign	0	1	10	21
MUT:LIPE:Arg286Gln	PROT:Q05469	LIPE	R	286	Q	R286Q	Likely benign	0	1	10	90
MUT:LIPE:Arg404Cys	PROT:Q05469	LIPE	R	404	C	R404C	Benign/Likely benign	0	1	10	161
MUT:LIPE:Arg611Cys	PROT:Q05469	LIPE	R	611	C	R611C	Benign	0	1	10	46
MUT:LIPE:Arg644Gln	PROT:Q05469	LIPE	R	644	Q	R644Q	Likely benign	0	1	10	16
MUT:LIPE:Gln133Glu	PROT:Q05469	LIPE	Q	133	E	Q133E	Likely benign	0	1	10	55
MUT:LIPE:Gly1074Ala	PROT:Q05469	LIPE	G	1074	A	G1074A	Likely benign	0	1	10	124
MUT:LIPE:Met842Thr	PROT:Q05469	LIPE	M	842	T	M842T	Likely benign	0	1	10	11
MUT:LIPE:Pro903Ser	PROT:Q05469	LIPE	P	903	S	P903S	Likely benign	0	1	10	12
MUT:LIPE:Ser177Thr	PROT:Q05469	LIPE	S	177	T	S177T	Benign	0	1	10	11
MUT:LIPE:Ser888Pro	PROT:Q05469	LIPE	S	888	P	S888P	Benign	0	1	10	3
MUT:LIPE:Val1068Gly	PROT:Q05469	LIPE	V	1068	G	V1068G	Likely benign	0	1	10	118
MUT:LIPG:Pro467Ser	PROT:Q9Y5X9	LIPG	P	467	S	P467S	Benign	0	1	2	129
MUT:LIPG:Thr298Ser	PROT:Q9Y5X9	LIPG	T	298	S	T298S	Benign	0	3	2	34
MUT:LIPH:Cys246Ser	PROT:Q8WWY8	LIPH	C	246	S	C246S	Pathogenic/Likely pathogenic	1	3	2	12
MUT:LIPH:His248Asn	PROT:Q8WWY8	LIPH	H	248	N	H248N	Pathogenic/Likely pathogenic	1	2	2	10
MUT:LIPH:Trp108Arg	PROT:Q8WWY8	LIPH	W	108	R	W108R	Pathogenic	1	1	2	39
MUT:LIPH:Val41Met	PROT:Q8WWY8	LIPH	V	41	M	V41M	Benign	0	1	2	28
MUT:LITAF:Ala111Gly	PROT:Q99732	LITAF	A	111	G	A111G	Pathogenic	1	2	5	6
MUT:LITAF:Gly112Ser	PROT:Q99732	LITAF	G	112	S	G112S	Pathogenic	1	2	5	7
MUT:LITAF:Ile92Val	PROT:Q99732	LITAF	I	92	V	I92V	Benign	0	2	5	13
MUT:LITAF:Leu122Val	PROT:Q99732	LITAF	L	122	V	L122V	Pathogenic	1	1	5	17
MUT:LITAF:Pro135Ala	PROT:Q99732	LITAF	P	135	A	P135A	Likely pathogenic	1	1	5	24
MUT:LITAF:Pro135Thr	PROT:Q99732	LITAF	P	135	T	P135T	Pathogenic	1	2	5	24
MUT:LITAF:Pro73Ser	PROT:Q99732	LITAF	P	73	S	P73S	Likely benign	0	1	5	13
MUT:LITAF:Ser60Leu	PROT:Q99732	LITAF	S	60	L	S60L	Likely benign	0	1	5	0
MUT:LITAF:Thr115Asn	PROT:Q99732	LITAF	T	115	N	T115N	Pathogenic/Likely pathogenic	1	1	5	10
MUT:LITAF:Thr11Ile	PROT:Q99732	LITAF	T	11	I	T11I	Likely benign	0	1	5	12
MUT:LITAF:Thr78Ser	PROT:Q99732	LITAF	T	78	S	T78S	Likely pathogenic	1	1	5	18
MUT:LITAF:Trp116Gly	PROT:Q99732	LITAF	W	116	G	W116G	Pathogenic	1	1	5	11
MUT:LITAF:Val81Met	PROT:Q99732	LITAF	V	81	M	V81M	Likely benign	0	1	5	21
MUT:LLGL2:Ala307Ser	PROT:Q6P1M3	LLGL2	A	307	S	A307S	Pathogenic	1	15	17	26
MUT:LLGL2:Arg748His	PROT:Q6P1M3	LLGL2	R	748	H	R748H	Benign	0	1	17	7
MUT:LMAN2L:Arg247His	PROT:Q9H0V9	LMAN2L	R	247	H	R247H	Likely pathogenic	1	1	1	153
MUT:LMAN2L:Arg53Gln	PROT:Q9H0V9	LMAN2L	R	53	Q	R53Q	Pathogenic	1	1	1	41
MUT:LMBR1:Ile30Val	PROT:Q8WVP7	LMBR1	I	30	V	I30V	Likely benign	0	1	1	15
MUT:LMBR1:Thr228Ala	PROT:Q8WVP7	LMBR1	T	228	A	T228A	Benign	0	1	1	183
MUT:LMBR1:Val18Leu	PROT:Q8WVP7	LMBR1	V	18	L	V18L	Likely benign	0	1	1	27
MUT:LMBRD1:Asp469Glu	PROT:Q9NUN5	LMBRD1	D	469	E	D469E	Benign	0	1	6	59
MUT:LMBRD1:Leu20Phe	PROT:Q9NUN5	LMBRD1	L	20	F	L20F	Likely benign	0	1	6	230
MUT:LMBRD1:Met1Val	PROT:Q9NUN5	LMBRD1	M	1	V	M1V	Likely pathogenic	1	1	6	249
MUT:LMBRD1:Tyr398His	PROT:Q9NUN5	LMBRD1	Y	398	H	Y398H	Likely benign	0	1	6	128
MUT:LMBRD1:Val511Ile	PROT:Q9NUN5	LMBRD1	V	511	I	V511I	Likely benign	0	1	6	17
MUT:LMBRD2:Arg483Cys	PROT:Q68DH5	LMBRD2	R	483	C	R483C	Likely pathogenic	1	1	10	150
MUT:LMBRD2:Arg483His	PROT:Q68DH5	LMBRD2	R	483	H	R483H	Pathogenic/Likely pathogenic	1	3	10	150
MUT:LMBRD2:Arg648Gln	PROT:Q68DH5	LMBRD2	R	648	Q	R648Q	Likely benign	0	1	10	12
MUT:LMBRD2:Arg688Cys	PROT:Q68DH5	LMBRD2	R	688	C	R688C	Likely benign	0	1	10	1
MUT:LMBRD2:Phe476Leu	PROT:Q68DH5	LMBRD2	F	476	L	F476L	Likely pathogenic	1	1	10	157
MUT:LMBRD2:Phe50Ser	PROT:Q68DH5	LMBRD2	F	50	S	F50S	Likely pathogenic	1	1	10	203
MUT:LMBRD2:Phe692Leu	PROT:Q68DH5	LMBRD2	F	692	L	F692L	Likely benign	0	1	10	5
MUT:LMBRD2:Pro487Leu	PROT:Q68DH5	LMBRD2	P	487	L	P487L	Likely pathogenic	1	1	10	146
MUT:LMBRD2:Ser298Asn	PROT:Q68DH5	LMBRD2	S	298	N	S298N	Likely benign	0	1	10	2
MUT:LMBRD2:Trp123Arg	PROT:Q68DH5	LMBRD2	W	123	R	W123R	Pathogenic/Likely pathogenic	1	2	10	130
MUT:LMBRD2:Val114Glu	PROT:Q68DH5	LMBRD2	V	114	E	V114E	Likely pathogenic	1	1	10	139
MUT:LMBRD2:Val628Ile	PROT:Q68DH5	LMBRD2	V	628	I	V628I	Likely benign	0	1	10	5
MUT:LMF1:Ala32Val	PROT:Q96S06	LMF1	A	32	V	A32V	Benign/Likely benign	0	1	2	18
MUT:LMF1:Ala431Asp	PROT:Q96S06	LMF1	A	431	D	A431D	Benign/Likely benign	0	2	2	417
MUT:LMF1:Arg101Thr	PROT:Q96S06	LMF1	R	101	T	R101T	Benign	0	1	2	87
MUT:LMF1:Arg230Gln	PROT:Q96S06	LMF1	R	230	Q	R230Q	Benign/Likely benign	0	1	2	216
MUT:LMF1:Glu531Asp	PROT:Q96S06	LMF1	E	531	D	E531D	Benign	0	1	2	517
MUT:LMF1:Gly172Arg	PROT:Q96S06	LMF1	G	172	R	G172R	Likely pathogenic	1	1	2	158
MUT:LMF1:Gly36Asp	PROT:Q96S06	LMF1	G	36	D	G36D	Benign/Likely benign	0	1	2	22
MUT:LMF1:Leu128Phe	PROT:Q96S06	LMF1	L	128	F	L128F	Benign/Likely benign	0	1	2	114
MUT:LMF1:Phe279Leu	PROT:Q96S06	LMF1	F	279	L	F279L	Benign/Likely benign	0	1	2	265
MUT:LMF1:Ser137Leu	PROT:Q96S06	LMF1	S	137	L	S137L	Likely pathogenic	1	1	2	123
MUT:LMF1:Val164Ala	PROT:Q96S06	LMF1	V	164	A	V164A	Benign	0	1	2	150
MUT:LMNA:Ala242Glu	PROT:P02545	LMNA	A	242	E	A242E	Likely pathogenic	1	1	157	9
MUT:LMNA:Ala278Pro	PROT:P02545	LMNA	A	278	P	A278P	Pathogenic	1	2	157	1
MUT:LMNA:Ala278Val	PROT:P02545	LMNA	A	278	V	A278V	Likely pathogenic	1	1	157	1
MUT:LMNA:Ala288Thr	PROT:P02545	LMNA	A	288	T	A288T	Likely pathogenic	1	1	157	6
MUT:LMNA:Ala375Gly	PROT:P02545	LMNA	A	375	G	A375G	Pathogenic	1	1	157	1
MUT:LMNA:Ala43Glu	PROT:P02545	LMNA	A	43	E	A43E	Pathogenic	1	1	157	2
MUT:LMNA:Ala529Pro	PROT:P02545	LMNA	A	529	P	A529P	Likely pathogenic	1	1	157	1
MUT:LMNA:Ala529Thr	PROT:P02545	LMNA	A	529	T	A529T	Pathogenic	1	1	157	1
MUT:LMNA:Ala57Pro	PROT:P02545	LMNA	A	57	P	A57P	Pathogenic	1	1	157	6
MUT:LMNA:Arg133Gly	PROT:P02545	LMNA	R	133	G	R133G	Likely pathogenic	1	1	157	2
MUT:LMNA:Arg133Leu	PROT:P02545	LMNA	R	133	L	R133L	Pathogenic	1	3	157	2
MUT:LMNA:Arg133Pro	PROT:P02545	LMNA	R	133	P	R133P	Likely pathogenic	1	2	157	2
MUT:LMNA:Arg166Gly	PROT:P02545	LMNA	R	166	G	R166G	Likely pathogenic	1	1	157	5
MUT:LMNA:Arg166Pro	PROT:P02545	LMNA	R	166	P	R166P	Pathogenic/Likely pathogenic	1	3	157	5
MUT:LMNA:Arg190Gln	PROT:P02545	LMNA	R	190	Q	R190Q	Pathogenic/Likely pathogenic	1	4	157	9
MUT:LMNA:Arg190Trp	PROT:P02545	LMNA	R	190	W	R190W	Pathogenic	1	5	157	9
MUT:LMNA:Arg225Leu	PROT:P02545	LMNA	R	225	L	R225L	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg225Pro	PROT:P02545	LMNA	R	225	P	R225P	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg249Gln	PROT:P02545	LMNA	R	249	Q	R249Q	Pathogenic/Likely pathogenic	1	8	157	10
MUT:LMNA:Arg249Gly	PROT:P02545	LMNA	R	249	G	R249G	Pathogenic/Likely pathogenic	1	3	157	10
MUT:LMNA:Arg249Pro	PROT:P02545	LMNA	R	249	P	R249P	Likely pathogenic	1	1	157	10
MUT:LMNA:Arg249Trp	PROT:P02545	LMNA	R	249	W	R249W	Pathogenic/Likely pathogenic	1	3	157	10
MUT:LMNA:Arg25Cys	PROT:P02545	LMNA	R	25	C	R25C	Likely pathogenic	1	2	157	1
MUT:LMNA:Arg25Gly	PROT:P02545	LMNA	R	25	G	R25G	Pathogenic/Likely pathogenic	1	2	157	1
MUT:LMNA:Arg25His	PROT:P02545	LMNA	R	25	H	R25H	Likely pathogenic	1	2	157	1
MUT:LMNA:Arg25Pro	PROT:P02545	LMNA	R	25	P	R25P	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg28Gln	PROT:P02545	LMNA	R	28	Q	R28Q	Pathogenic/Likely pathogenic	1	2	157	1
MUT:LMNA:Arg28Gly	PROT:P02545	LMNA	R	28	G	R28G	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg28Trp	PROT:P02545	LMNA	R	28	W	R28W	Pathogenic/Likely pathogenic	1	1	157	1
MUT:LMNA:Arg331Gly	PROT:P02545	LMNA	R	331	G	R331G	Likely pathogenic	1	1	157	5
MUT:LMNA:Arg331Leu	PROT:P02545	LMNA	R	331	L	R331L	Likely pathogenic	1	1	157	5
MUT:LMNA:Arg331Pro	PROT:P02545	LMNA	R	331	P	R331P	Likely pathogenic	1	1	157	5
MUT:LMNA:Arg335Trp	PROT:P02545	LMNA	R	335	W	R335W	Pathogenic/Likely pathogenic	1	9	157	6
MUT:LMNA:Arg349Trp	PROT:P02545	LMNA	R	349	W	R349W	Pathogenic/Likely pathogenic	1	5	157	8
MUT:LMNA:Arg377Cys	PROT:P02545	LMNA	R	377	C	R377C	Pathogenic/Likely pathogenic	1	6	157	1
MUT:LMNA:Arg377His	PROT:P02545	LMNA	R	377	H	R377H	Pathogenic	1	6	157	1
MUT:LMNA:Arg377Leu	PROT:P02545	LMNA	R	377	L	R377L	Pathogenic/Likely pathogenic	1	3	157	1
MUT:LMNA:Arg386Gly	PROT:P02545	LMNA	R	386	G	R386G	Pathogenic	1	1	157	4
MUT:LMNA:Arg386Lys	PROT:P02545	LMNA	R	386	K	R386K	Pathogenic	1	2	157	4
MUT:LMNA:Arg388Pro	PROT:P02545	LMNA	R	388	P	R388P	Likely pathogenic	1	1	157	2
MUT:LMNA:Arg41Cys	PROT:P02545	LMNA	R	41	C	R41C	Pathogenic	1	1	157	4
MUT:LMNA:Arg41His	PROT:P02545	LMNA	R	41	H	R41H	Pathogenic	1	1	157	4
MUT:LMNA:Arg453Pro	PROT:P02545	LMNA	R	453	P	R453P	Pathogenic/Likely pathogenic	1	2	157	3
MUT:LMNA:Arg453Trp	PROT:P02545	LMNA	R	453	W	R453W	Pathogenic/Likely pathogenic	1	6	157	3
MUT:LMNA:Arg455Pro	PROT:P02545	LMNA	R	455	P	R455P	Pathogenic	1	1	157	2
MUT:LMNA:Arg471His	PROT:P02545	LMNA	R	471	H	R471H	Pathogenic/Likely pathogenic	1	4	157	1
MUT:LMNA:Arg482Gly	PROT:P02545	LMNA	R	482	G	R482G	Pathogenic/Likely pathogenic	1	1	157	1
MUT:LMNA:Arg482Pro	PROT:P02545	LMNA	R	482	P	R482P	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg482Trp	PROT:P02545	LMNA	R	482	W	R482W	Pathogenic/Likely pathogenic	1	5	157	1
MUT:LMNA:Arg48Gly	PROT:P02545	LMNA	R	48	G	R48G	Likely pathogenic	1	1	157	3
MUT:LMNA:Arg48His	PROT:P02545	LMNA	R	48	H	R48H	Likely pathogenic	1	1	157	3
MUT:LMNA:Arg48Leu	PROT:P02545	LMNA	R	48	L	R48L	Likely pathogenic	1	1	157	3
MUT:LMNA:Arg48Pro	PROT:P02545	LMNA	R	48	P	R48P	Pathogenic	1	1	157	3
MUT:LMNA:Arg527Pro	PROT:P02545	LMNA	R	527	P	R527P	Pathogenic	1	4	157	1
MUT:LMNA:Arg541Cys	PROT:P02545	LMNA	R	541	C	R541C	Pathogenic/Likely pathogenic	1	5	157	5
MUT:LMNA:Arg541Gly	PROT:P02545	LMNA	R	541	G	R541G	Pathogenic	1	1	157	5
MUT:LMNA:Arg541His	PROT:P02545	LMNA	R	541	H	R541H	Pathogenic/Likely pathogenic	1	7	157	5
MUT:LMNA:Arg541Pro	PROT:P02545	LMNA	R	541	P	R541P	Pathogenic/Likely pathogenic	1	1	157	5
MUT:LMNA:Arg541Ser	PROT:P02545	LMNA	R	541	S	R541S	Pathogenic/Likely pathogenic	1	2	157	5
MUT:LMNA:Arg60Gly	PROT:P02545	LMNA	R	60	G	R60G	Pathogenic	1	2	157	4
MUT:LMNA:Arg62Cys	PROT:P02545	LMNA	R	62	C	R62C	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Arg62Gly	PROT:P02545	LMNA	R	62	G	R62G	Pathogenic	1	2	157	2
MUT:LMNA:Arg62Leu	PROT:P02545	LMNA	R	62	L	R62L	Likely pathogenic	1	1	157	2
MUT:LMNA:Arg62Pro	PROT:P02545	LMNA	R	62	P	R62P	Likely pathogenic	1	1	157	2
MUT:LMNA:Arg62Ser	PROT:P02545	LMNA	R	62	S	R62S	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Arg72Pro	PROT:P02545	LMNA	R	72	P	R72P	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg89Cys	PROT:P02545	LMNA	R	89	C	R89C	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg89Gly	PROT:P02545	LMNA	R	89	G	R89G	Likely pathogenic	1	1	157	1
MUT:LMNA:Arg89Leu	PROT:P02545	LMNA	R	89	L	R89L	Pathogenic/Likely pathogenic	1	1	157	1
MUT:LMNA:Arg99Pro	PROT:P02545	LMNA	R	99	P	R99P	Likely pathogenic	1	1	157	2
MUT:LMNA:Asn195Lys	PROT:P02545	LMNA	N	195	K	N195K	Pathogenic	1	3	157	4
MUT:LMNA:Asn39Asp	PROT:P02545	LMNA	N	39	D	N39D	Likely pathogenic	1	2	157	6
MUT:LMNA:Asn39His	PROT:P02545	LMNA	N	39	H	N39H	Likely pathogenic	1	2	157	6
MUT:LMNA:Asn39Ile	PROT:P02545	LMNA	N	39	I	N39I	Likely pathogenic	1	1	157	6
MUT:LMNA:Asn39Lys	PROT:P02545	LMNA	N	39	K	N39K	Pathogenic	1	2	157	6
MUT:LMNA:Asn39Ser	PROT:P02545	LMNA	N	39	S	N39S	Pathogenic	1	3	157	6
MUT:LMNA:Asn456Asp	PROT:P02545	LMNA	N	456	D	N456D	Pathogenic	1	2	157	1
MUT:LMNA:Asn456Lys	PROT:P02545	LMNA	N	456	K	N456K	Pathogenic	1	1	157	1
MUT:LMNA:Asn456Thr	PROT:P02545	LMNA	N	456	T	N456T	Likely pathogenic	1	1	157	1
MUT:LMNA:Asn466Lys	PROT:P02545	LMNA	N	466	K	N466K	Pathogenic	1	1	157	3
MUT:LMNA:Asp192Val	PROT:P02545	LMNA	D	192	V	D192V	Likely pathogenic	1	1	157	7
MUT:LMNA:Asp230Ala	PROT:P02545	LMNA	D	230	A	D230A	Pathogenic	1	1	157	3
MUT:LMNA:Asp230Asn	PROT:P02545	LMNA	D	230	N	D230N	Pathogenic	1	1	157	3
MUT:LMNA:Asp243Tyr	PROT:P02545	LMNA	D	243	Y	D243Y	Likely pathogenic	1	1	157	10
MUT:LMNA:Asp300Asn	PROT:P02545	LMNA	D	300	N	D300N	Pathogenic/Likely pathogenic	1	5	157	1
MUT:LMNA:Asp300Gly	PROT:P02545	LMNA	D	300	G	D300G	Pathogenic	1	1	157	1
MUT:LMNA:Asp357His	PROT:P02545	LMNA	D	357	H	D357H	Likely pathogenic	1	1	157	2
MUT:LMNA:Asp370Glu	PROT:P02545	LMNA	D	370	E	D370E	Likely pathogenic	1	2	157	6
MUT:LMNA:Asp446Asn	PROT:P02545	LMNA	D	446	N	D446N	Likely pathogenic	1	2	157	4
MUT:LMNA:Asp446Val	PROT:P02545	LMNA	D	446	V	D446V	Likely pathogenic	1	1	157	4
MUT:LMNA:Gln198Pro	PROT:P02545	LMNA	Q	198	P	Q198P	Likely pathogenic	1	1	157	1
MUT:LMNA:Gln276Pro	PROT:P02545	LMNA	Q	276	P	Q276P	Pathogenic	1	1	157	1
MUT:LMNA:Gln462Pro	PROT:P02545	LMNA	Q	462	P	Q462P	Likely pathogenic	1	1	157	1
MUT:LMNA:Gln656His	PROT:P02545	LMNA	Q	656	H	Q656H	Likely pathogenic	1	1	157	1
MUT:LMNA:Gln659His	PROT:P02545	LMNA	Q	659	H	Q659H	Likely benign	0	1	157	2
MUT:LMNA:Glu111Gln	PROT:P02545	LMNA	E	111	Q	E111Q	Likely pathogenic	1	1	157	3
MUT:LMNA:Glu111Lys	PROT:P02545	LMNA	E	111	K	E111K	Likely pathogenic	1	1	157	3
MUT:LMNA:Glu145Lys	PROT:P02545	LMNA	E	145	K	E145K	Pathogenic	1	2	157	1
MUT:LMNA:Glu161Lys	PROT:P02545	LMNA	E	161	K	E161K	Pathogenic/Likely pathogenic	1	5	157	4
MUT:LMNA:Glu203Gly	PROT:P02545	LMNA	E	203	G	E203G	Pathogenic/Likely pathogenic	1	3	157	2
MUT:LMNA:Glu203Lys	PROT:P02545	LMNA	E	203	K	E203K	Pathogenic/Likely pathogenic	1	4	157	2
MUT:LMNA:Glu203Val	PROT:P02545	LMNA	E	203	V	E203V	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Glu262Lys	PROT:P02545	LMNA	E	262	K	E262K	Likely pathogenic	1	1	157	1
MUT:LMNA:Glu262Val	PROT:P02545	LMNA	E	262	V	E262V	Likely pathogenic	1	1	157	1
MUT:LMNA:Glu290Val	PROT:P02545	LMNA	E	290	V	E290V	Likely pathogenic	1	1	157	5
MUT:LMNA:Glu291Lys	PROT:P02545	LMNA	E	291	K	E291K	Pathogenic	1	1	157	4
MUT:LMNA:Glu291Val	PROT:P02545	LMNA	E	291	V	E291V	Likely pathogenic	1	1	157	4
MUT:LMNA:Glu317Lys	PROT:P02545	LMNA	E	317	K	E317K	Pathogenic/Likely pathogenic	1	7	157	1
MUT:LMNA:Glu31Gln	PROT:P02545	LMNA	E	31	Q	E31Q	Likely pathogenic	1	1	157	1
MUT:LMNA:Glu31Gly	PROT:P02545	LMNA	E	31	G	E31G	Pathogenic	1	1	157	1
MUT:LMNA:Glu31Lys	PROT:P02545	LMNA	E	31	K	E31K	Pathogenic	1	1	157	1
MUT:LMNA:Glu33Asp	PROT:P02545	LMNA	E	33	D	E33D	Likely pathogenic	1	2	157	1
MUT:LMNA:Glu347Ala	PROT:P02545	LMNA	E	347	A	E347A	Likely pathogenic	1	1	157	6
MUT:LMNA:Glu358Gly	PROT:P02545	LMNA	E	358	G	E358G	Likely pathogenic	1	1	157	1
MUT:LMNA:Glu358Lys	PROT:P02545	LMNA	E	358	K	E358K	Pathogenic	1	5	157	1
MUT:LMNA:Glu361Lys	PROT:P02545	LMNA	E	361	K	E361K	Pathogenic	1	2	157	2
MUT:LMNA:Glu372Asp	PROT:P02545	LMNA	E	372	D	E372D	Pathogenic/Likely pathogenic	1	2	157	4
MUT:LMNA:Glu372Gly	PROT:P02545	LMNA	E	372	G	E372G	Pathogenic	1	1	157	4
MUT:LMNA:Glu383Asp	PROT:P02545	LMNA	E	383	D	E383D	Likely pathogenic	1	1	157	5
MUT:LMNA:Glu383Lys	PROT:P02545	LMNA	E	383	K	E383K	Pathogenic/Likely pathogenic	1	2	157	5
MUT:LMNA:Glu384Lys	PROT:P02545	LMNA	E	384	K	E384K	Pathogenic	1	1	157	6
MUT:LMNA:Glu460Asp	PROT:P02545	LMNA	E	460	D	E460D	Likely pathogenic	1	1	157	2
MUT:LMNA:Glu53Gly	PROT:P02545	LMNA	E	53	G	E53G	Pathogenic/Likely pathogenic	1	1	157	2
MUT:LMNA:Glu55Gly	PROT:P02545	LMNA	E	55	G	E55G	Likely pathogenic	1	1	157	4
MUT:LMNA:Glu65Gly	PROT:P02545	LMNA	E	65	G	E65G	Pathogenic/Likely pathogenic	1	1	157	1
MUT:LMNA:Glu65Val	PROT:P02545	LMNA	E	65	V	E65V	Likely pathogenic	1	1	157	1
MUT:LMNA:Glu68Val	PROT:P02545	LMNA	E	68	V	E68V	Pathogenic	1	1	157	2
MUT:LMNA:Glu82Gly	PROT:P02545	LMNA	E	82	G	E82G	Likely pathogenic	1	1	157	1
MUT:LMNA:Glu82Lys	PROT:P02545	LMNA	E	82	K	E82K	Pathogenic	1	2	157	1
MUT:LMNA:Gly232Arg	PROT:P02545	LMNA	G	232	R	G232R	Pathogenic	1	1	157	1
MUT:LMNA:Gly232Glu	PROT:P02545	LMNA	G	232	E	G232E	Pathogenic/Likely pathogenic	1	2	157	1
MUT:LMNA:Gly449Asp	PROT:P02545	LMNA	G	449	D	G449D	Pathogenic	1	1	157	1
MUT:LMNA:Gly465Asp	PROT:P02545	LMNA	G	465	D	G465D	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Gly608Ser	PROT:P02545	LMNA	G	608	S	G608S	Pathogenic	1	1	157	4
MUT:LMNA:His433Tyr	PROT:P02545	LMNA	H	433	Y	H433Y	Likely pathogenic	1	1	157	2
MUT:LMNA:Ile373Met	PROT:P02545	LMNA	I	373	M	I373M	Pathogenic	1	1	157	3
MUT:LMNA:Ile373Phe	PROT:P02545	LMNA	I	373	F	I373F	Likely pathogenic	1	1	157	3
MUT:LMNA:Ile373Ser	PROT:P02545	LMNA	I	373	S	I373S	Likely pathogenic	1	1	157	3
MUT:LMNA:Leu106Pro	PROT:P02545	LMNA	L	106	P	L106P	Pathogenic	1	1	157	1
MUT:LMNA:Leu140Arg	PROT:P02545	LMNA	L	140	R	L140R	Pathogenic	1	1	157	3
MUT:LMNA:Leu140Pro	PROT:P02545	LMNA	L	140	P	L140P	Pathogenic	1	1	157	3
MUT:LMNA:Leu141Pro	PROT:P02545	LMNA	L	141	P	L141P	Pathogenic	1	1	157	2
MUT:LMNA:Leu162Pro	PROT:P02545	LMNA	L	162	P	L162P	Likely pathogenic	1	1	157	5
MUT:LMNA:Leu197Pro	PROT:P02545	LMNA	L	197	P	L197P	Likely pathogenic	1	1	157	2
MUT:LMNA:Leu204Arg	PROT:P02545	LMNA	L	204	R	L204R	Likely pathogenic	1	1	157	3
MUT:LMNA:Leu215Pro	PROT:P02545	LMNA	L	215	P	L215P	Pathogenic/Likely pathogenic	1	2	157	3
MUT:LMNA:Leu245Gln	PROT:P02545	LMNA	L	245	Q	L245Q	Likely pathogenic	1	1	157	12
MUT:LMNA:Leu306Pro	PROT:P02545	LMNA	L	306	P	L306P	Likely pathogenic	1	1	157	1
MUT:LMNA:Leu35Pro	PROT:P02545	LMNA	L	35	P	L35P	Pathogenic/Likely pathogenic	1	2	157	3
MUT:LMNA:Leu362Pro	PROT:P02545	LMNA	L	362	P	L362P	Likely pathogenic	1	1	157	3
MUT:LMNA:Leu380Met	PROT:P02545	LMNA	L	380	M	L380M	Likely pathogenic	1	1	157	2
MUT:LMNA:Leu380Ser	PROT:P02545	LMNA	L	380	S	L380S	Pathogenic	1	1	157	2
MUT:LMNA:Leu38Val	PROT:P02545	LMNA	L	38	V	L38V	Likely pathogenic	1	1	157	6
MUT:LMNA:Leu42Ser	PROT:P02545	LMNA	L	42	S	L42S	Pathogenic	1	1	157	3
MUT:LMNA:Leu454Pro	PROT:P02545	LMNA	L	454	P	L454P	Pathogenic	1	1	157	3
MUT:LMNA:Leu52Val	PROT:P02545	LMNA	L	52	V	L52V	Likely pathogenic	1	1	157	1
MUT:LMNA:Leu530His	PROT:P02545	LMNA	L	530	H	L530H	Pathogenic	1	1	157	2
MUT:LMNA:Leu530Phe	PROT:P02545	LMNA	L	530	F	L530F	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Leu530Pro	PROT:P02545	LMNA	L	530	P	L530P	Pathogenic	1	1	157	2
MUT:LMNA:Leu59Arg	PROT:P02545	LMNA	L	59	R	L59R	Pathogenic	1	1	157	5
MUT:LMNA:Leu59Val	PROT:P02545	LMNA	L	59	V	L59V	Likely pathogenic	1	1	157	5
MUT:LMNA:Leu85His	PROT:P02545	LMNA	L	85	H	L85H	Likely pathogenic	1	1	157	4
MUT:LMNA:Leu85Phe	PROT:P02545	LMNA	L	85	F	L85F	Likely pathogenic	1	1	157	4
MUT:LMNA:Leu92Phe	PROT:P02545	LMNA	L	92	F	L92F	Pathogenic/Likely pathogenic	1	1	157	2
MUT:LMNA:Leu92Pro	PROT:P02545	LMNA	L	92	P	L92P	Pathogenic	1	1	157	2
MUT:LMNA:Lys144Thr	PROT:P02545	LMNA	K	144	T	K144T	Pathogenic	1	1	157	0
MUT:LMNA:Lys219Thr	PROT:P02545	LMNA	K	219	T	K219T	Likely pathogenic	1	1	157	0
MUT:LMNA:Lys270Asn	PROT:P02545	LMNA	K	270	N	K270N	Likely pathogenic	1	1	157	0
MUT:LMNA:Lys32Glu	PROT:P02545	LMNA	K	32	E	K32E	Pathogenic/Likely pathogenic	1	2	157	0
MUT:LMNA:Lys32Thr	PROT:P02545	LMNA	K	32	T	K32T	Pathogenic	1	1	157	0
MUT:LMNA:Lys378Gln	PROT:P02545	LMNA	K	378	Q	K378Q	Likely pathogenic	1	1	157	0
MUT:LMNA:Lys542Asn	PROT:P02545	LMNA	K	542	N	K542N	Pathogenic	1	1	157	4
MUT:LMNA:Met1Ile	PROT:P02545	LMNA	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Met1Leu	PROT:P02545	LMNA	M	1	L	M1L	Pathogenic	1	1	157	2
MUT:LMNA:Met371Leu	PROT:P02545	LMNA	M	371	L	M371L	Likely pathogenic	1	1	157	5
MUT:LMNA:Met464Arg	PROT:P02545	LMNA	M	464	R	M464R	Likely pathogenic	1	1	157	1
MUT:LMNA:Met540Ile	PROT:P02545	LMNA	M	540	I	M540I	Pathogenic	1	1	157	6
MUT:LMNA:Met540Thr	PROT:P02545	LMNA	M	540	T	M540T	Pathogenic	1	1	157	6
MUT:LMNA:Pro4Arg	PROT:P02545	LMNA	P	4	R	P4R	Pathogenic	1	1	157	1
MUT:LMNA:Ser143Phe	PROT:P02545	LMNA	S	143	F	S143F	Pathogenic	1	1	157	0
MUT:LMNA:Ser143Pro	PROT:P02545	LMNA	S	143	P	S143P	Pathogenic/Likely pathogenic	1	3	157	0
MUT:LMNA:Ser94Pro	PROT:P02545	LMNA	S	94	P	S94P	Pathogenic	1	1	157	0
MUT:LMNA:Thr10Ile	PROT:P02545	LMNA	T	10	I	T10I	Pathogenic/Likely pathogenic	1	3	157	0
MUT:LMNA:Thr10Pro	PROT:P02545	LMNA	T	10	P	T10P	Likely pathogenic	1	1	157	0
MUT:LMNA:Thr10Ser	PROT:P02545	LMNA	T	10	S	T10S	Likely pathogenic	1	1	157	0
MUT:LMNA:Thr150Pro	PROT:P02545	LMNA	T	150	P	T150P	Pathogenic/Likely pathogenic	1	2	157	0
MUT:LMNA:Thr27Ile	PROT:P02545	LMNA	T	27	I	T27I	Likely pathogenic	1	1	157	0
MUT:LMNA:Thr528Arg	PROT:P02545	LMNA	T	528	R	T528R	Pathogenic/Likely pathogenic	1	4	157	0
MUT:LMNA:Thr528Lys	PROT:P02545	LMNA	T	528	K	T528K	Pathogenic/Likely pathogenic	1	3	157	0
MUT:LMNA:Thr528Pro	PROT:P02545	LMNA	T	528	P	T528P	Pathogenic/Likely pathogenic	1	1	157	0
MUT:LMNA:Trp467Arg	PROT:P02545	LMNA	W	467	R	W467R	Likely pathogenic	1	1	157	3
MUT:LMNA:Trp498Cys	PROT:P02545	LMNA	W	498	C	W498C	Likely pathogenic	1	1	157	2
MUT:LMNA:Trp514Arg	PROT:P02545	LMNA	W	514	R	W514R	Pathogenic	1	1	157	1
MUT:LMNA:Trp520Arg	PROT:P02545	LMNA	W	520	R	W520R	Pathogenic	1	2	157	5
MUT:LMNA:Trp520Cys	PROT:P02545	LMNA	W	520	C	W520C	Likely pathogenic	1	2	157	5
MUT:LMNA:Tyr259Cys	PROT:P02545	LMNA	Y	259	C	Y259C	Likely pathogenic	1	1	157	0
MUT:LMNA:Tyr259His	PROT:P02545	LMNA	Y	259	H	Y259H	Likely pathogenic	1	1	157	0
MUT:LMNA:Tyr267His	PROT:P02545	LMNA	Y	267	H	Y267H	Pathogenic/Likely pathogenic	1	2	157	2
MUT:LMNA:Tyr376Cys	PROT:P02545	LMNA	Y	376	C	Y376C	Pathogenic	1	1	157	0
MUT:LMNA:Tyr376His	PROT:P02545	LMNA	Y	376	H	Y376H	Likely pathogenic	1	1	157	0
MUT:LMNA:Tyr81Asp	PROT:P02545	LMNA	Y	81	D	Y81D	Pathogenic	1	1	157	0
MUT:LMNA:Val191Gly	PROT:P02545	LMNA	V	191	G	V191G	Benign	0	1	157	8
MUT:LMNA:Val442Glu	PROT:P02545	LMNA	V	442	E	V442E	Likely pathogenic	1	1	157	5
MUT:LMNB1:Ala152Gly	PROT:P20700	LMNB1	A	152	G	A152G	Pathogenic	1	2	65	4
MUT:LMNB1:Ala152Val	PROT:P20700	LMNB1	A	152	V	A152V	Likely benign	0	1	65	4
MUT:LMNB1:Ala316Glu	PROT:P20700	LMNB1	A	316	E	A316E	Likely benign	0	1	65	4
MUT:LMNB1:Ala501Val	PROT:P20700	LMNB1	A	501	V	A501V	Benign	0	1	65	18
MUT:LMNB1:Ala89Val	PROT:P20700	LMNB1	A	89	V	A89V	Likely benign	0	1	65	5
MUT:LMNB1:Arg10Leu	PROT:P20700	LMNB1	R	10	L	R10L	Benign	0	1	65	15
MUT:LMNB1:Arg297His	PROT:P20700	LMNB1	R	297	H	R297H	Likely benign	0	1	65	5
MUT:LMNB1:Arg42Trp	PROT:P20700	LMNB1	R	42	W	R42W	Pathogenic	1	2	65	4
MUT:LMNB1:Arg90Pro	PROT:P20700	LMNB1	R	90	P	R90P	Likely pathogenic	1	1	65	6
MUT:LMNB1:Leu364Pro	PROT:P20700	LMNB1	L	364	P	L364P	Pathogenic	1	1	65	4
MUT:LMNB1:Lys33Glu	PROT:P20700	LMNB1	K	33	E	K33E	Pathogenic	1	2	65	0
MUT:LMNB1:Tyr360Cys	PROT:P20700	LMNB1	Y	360	C	Y360C	Likely benign	0	1	65	0
MUT:LMNB2:Ala427Thr	PROT:Q03252	LMNB2	A	427	T	A427T	Benign	0	1	77	1
MUT:LMNB2:Arg235Gln	PROT:Q03252	LMNB2	R	235	Q	R235Q	Benign/Likely benign	0	2	77	11
MUT:LMNB2:Arg416Leu	PROT:Q03252	LMNB2	R	416	L	R416L	Benign/Likely benign	0	1	77	1
MUT:LMNB2:Arg561Cys	PROT:Q03252	LMNB2	R	561	C	R561C	Benign	0	1	77	2
MUT:LMNB2:Asn54His	PROT:Q03252	LMNB2	N	54	H	N54H	Pathogenic	1	1	77	6
MUT:LMNB2:Glu398Lys	PROT:Q03252	LMNB2	E	398	K	E398K	Pathogenic	1	2	77	5
MUT:LMNB2:His157Tyr	PROT:Q03252	LMNB2	H	157	Y	H157Y	Pathogenic	1	1	77	3
MUT:LMNB2:Thr143Met	PROT:Q03252	LMNB2	T	143	M	T143M	Likely benign	0	1	77	7
MUT:LMOD1:Arg421His	PROT:P29536	LMOD1	R	421	H	R421H	Pathogenic	1	1	11	87
MUT:LMOD1:Thr369Met	PROT:P29536	LMOD1	T	369	M	T369M	Pathogenic	1	1	11	61
MUT:LMOD2:Arg44His	PROT:Q6P5Q4	LMOD2	R	44	H	R44H	Likely benign	0	1	7	29
MUT:LMOD2:Val273Ile	PROT:Q6P5Q4	LMOD2	V	273	I	V273I	Likely benign	0	1	7	96
MUT:LNPK:Cys149Tyr	PROT:Q9C0E8	LNPK	C	149	Y	C149Y	Benign	0	1	15	16
MUT:LNPK:Thr159Ser	PROT:Q9C0E8	LNPK	T	159	S	T159S	Benign	0	9	15	18
MUT:LONP1:Ala160Thr	PROT:P36776	LONP1	A	160	T	A160T	Benign/Likely benign	0	1	8	80
MUT:LONP1:Ala481Val	PROT:P36776	LONP1	A	481	V	A481V	Likely benign	0	1	8	11
MUT:LONP1:Ala724Val	PROT:P36776	LONP1	A	724	V	A724V	Pathogenic	1	1	8	10
MUT:LONP1:Ala78Val	PROT:P36776	LONP1	A	78	V	A78V	Benign	0	1	8	2
MUT:LONP1:Arg301Trp	PROT:P36776	LONP1	R	301	W	R301W	Likely pathogenic	1	1	8	191
MUT:LONP1:Arg538His	PROT:P36776	LONP1	R	538	H	R538H	Likely benign	0	1	8	10
MUT:LONP1:Arg785Gly	PROT:P36776	LONP1	R	785	G	R785G	Pathogenic	1	1	8	18
MUT:LONP1:Glu223Lys	PROT:P36776	LONP1	E	223	K	E223K	Likely benign	0	1	8	143
MUT:LONP1:Glu808Asp	PROT:P36776	LONP1	E	808	D	E808D	Likely benign	0	1	8	5
MUT:LONP1:Glu87Asp	PROT:P36776	LONP1	E	87	D	E87D	Benign/Likely benign	0	1	8	7
MUT:LONP1:Gly798Ser	PROT:P36776	LONP1	G	798	S	G798S	Benign/Likely benign	0	1	8	5
MUT:LONP1:Leu306Trp	PROT:P36776	LONP1	L	306	W	L306W	Likely pathogenic	1	1	8	186
MUT:LONP1:Met23Leu	PROT:P36776	LONP1	M	23	L	M23L	Likely benign	0	1	8	57
MUT:LONP1:Met23Val	PROT:P36776	LONP1	M	23	V	M23V	Benign/Likely benign	0	1	8	57
MUT:LONP1:Ser631Tyr	PROT:P36776	LONP1	S	631	Y	S631Y	Pathogenic	1	1	8	50
MUT:LONP1:Thr188Met	PROT:P36776	LONP1	T	188	M	T188M	Benign	0	1	8	108
MUT:LONP1:Tyr939His	PROT:P36776	LONP1	Y	939	H	Y939H	Likely pathogenic	1	1	8	59
MUT:LONP1:Val437Ile	PROT:P36776	LONP1	V	437	I	V437I	Benign/Likely benign	0	2	8	55
MUT:LONP1:Val641Ile	PROT:P36776	LONP1	V	641	I	V641I	Benign/Likely benign	0	1	8	60
MUT:LONP1:Val911Ile	PROT:P36776	LONP1	V	911	I	V911I	Benign	0	1	8	31
MUT:LPAR1:Arg152Cys	PROT:Q92633	LPAR1	R	152	C	R152C	Likely benign	0	1	4	84
MUT:LPIN2:Arg517His	PROT:Q92539	LPIN2	R	517	H	R517H	Pathogenic/Likely pathogenic	1	1	21	87
MUT:LPIN2:Glu170Asp	PROT:Q92539	LPIN2	E	170	D	E170D	Likely benign	0	1	21	16
MUT:LPIN2:Glu601Lys	PROT:Q92539	LPIN2	E	601	K	E601K	Benign/Likely benign	0	2	21	3
MUT:LPIN2:Lys387Glu	PROT:Q92539	LPIN2	K	387	E	K387E	Benign/Likely benign	0	3	21	6
MUT:LPIN2:Pro348Leu	PROT:Q92539	LPIN2	P	348	L	P348L	Benign/Likely benign	0	2	21	45
MUT:LPIN2:Pro623Ser	PROT:Q92539	LPIN2	P	623	S	P623S	Benign/Likely benign	0	2	21	17
MUT:LPIN2:Pro626Ser	PROT:Q92539	LPIN2	P	626	S	P626S	Benign/Likely benign	0	2	21	20
MUT:LPIN2:Ser203Phe	PROT:Q92539	LPIN2	S	203	F	S203F	Benign/Likely benign	0	3	21	0
MUT:LPIN2:Ser579Pro	PROT:Q92539	LPIN2	S	579	P	S579P	Benign/Likely benign	0	3	21	25
MUT:LPIN2:Ser734Leu	PROT:Q92539	LPIN2	S	734	L	S734L	Pathogenic/Likely pathogenic	1	2	21	128
MUT:LPIN3:Arg790Gln	PROT:Q9BQK8	LPIN3	R	790	Q	R790Q	Likely benign	0	1	3	327
MUT:LPP:Arg22Trp	PROT:Q93052	LPP	R	22	W	R22W	Likely benign	0	1	38	3
MUT:LPP:Arg388Cys	PROT:Q93052	LPP	R	388	C	R388C	Likely benign	0	1	38	9
MUT:LPP:Gly573Ser	PROT:Q93052	LPP	G	573	S	G573S	Likely benign	0	8	38	36
MUT:LPP:Pro167Leu	PROT:Q93052	LPP	P	167	L	P167L	Benign/Likely benign	0	1	38	6
MUT:LPP:Pro363Ser	PROT:Q93052	LPP	P	363	S	P363S	Benign	0	1	38	8
MUT:LPP:Ser246Leu	PROT:Q93052	LPP	S	246	L	S246L	Likely benign	0	1	38	2
MUT:LPP:Thr212Met	PROT:Q93052	LPP	T	212	M	T212M	Likely benign	0	1	38	19
MUT:LRBA:Ala1090Gly	PROT:P50851	LRBA	A	1090	G	A1090G	Benign/Likely benign	0	1	93	4
MUT:LRBA:Ala1471Gly	PROT:P50851	LRBA	A	1471	G	A1471G	Likely benign	0	1	93	2
MUT:LRBA:Ala2693Thr	PROT:P50851	LRBA	A	2693	T	A2693T	Benign/Likely benign	0	1	93	49
MUT:LRBA:Ala841Thr	PROT:P50851	LRBA	A	841	T	A841T	Likely benign	0	1	93	17
MUT:LRBA:Arg1220Gly	PROT:P50851	LRBA	R	1220	G	R1220G	Likely benign	0	1	93	11
MUT:LRBA:Arg1997Cys	PROT:P50851	LRBA	R	1997	C	R1997C	Benign/Likely benign	0	1	93	38
MUT:LRBA:Cys2589Tyr	PROT:P50851	LRBA	C	2589	Y	C2589Y	Benign	0	1	93	93
MUT:LRBA:Cys982Tyr	PROT:P50851	LRBA	C	982	Y	C982Y	Likely benign	0	1	93	3
MUT:LRBA:Gln648Lys	PROT:P50851	LRBA	Q	648	K	Q648K	Likely benign	0	1	93	28
MUT:LRBA:Glu2042Lys	PROT:P50851	LRBA	E	2042	K	E2042K	Likely benign	0	1	93	3
MUT:LRBA:Gly1230Asp	PROT:P50851	LRBA	G	1230	D	G1230D	Benign	0	1	93	1
MUT:LRBA:Gly18Arg	PROT:P50851	LRBA	G	18	R	G18R	Benign	0	1	93	4
MUT:LRBA:Gly524Ser	PROT:P50851	LRBA	G	524	S	G524S	Likely benign	0	1	93	17
MUT:LRBA:Ile1287Val	PROT:P50851	LRBA	I	1287	V	I1287V	Benign/Likely benign	0	1	93	12
MUT:LRBA:Ile2646Ser	PROT:P50851	LRBA	I	2646	S	I2646S	Pathogenic	1	1	93	96
MUT:LRBA:Ile505Val	PROT:P50851	LRBA	I	505	V	I505V	Benign/Likely benign	0	1	93	36
MUT:LRBA:Ile724Val	PROT:P50851	LRBA	I	724	V	I724V	Benign/Likely benign	0	1	93	7
MUT:LRBA:Leu1977Arg	PROT:P50851	LRBA	L	1977	R	L1977R	Likely benign	0	1	93	58
MUT:LRBA:Leu2702Phe	PROT:P50851	LRBA	L	2702	F	L2702F	Benign/Likely benign	0	1	93	40
MUT:LRBA:Lys2607Gln	PROT:P50851	LRBA	K	2607	Q	K2607Q	Likely benign	0	1	93	111
MUT:LRBA:Lys2801Asn	PROT:P50851	LRBA	K	2801	N	K2801N	Benign	0	2	93	48
MUT:LRBA:Met1190Val	PROT:P50851	LRBA	M	1190	V	M1190V	Benign/Likely benign	0	2	93	1
MUT:LRBA:Met759Leu	PROT:P50851	LRBA	M	759	L	M759L	Benign/Likely benign	0	1	93	28
MUT:LRBA:Ser1421Gly	PROT:P50851	LRBA	S	1421	G	S1421G	Pathogenic	1	1	93	44
MUT:LRBA:Ser2339Ile	PROT:P50851	LRBA	S	2339	I	S2339I	Benign/Likely benign	0	1	93	60
MUT:LRBA:Ser2798Leu	PROT:P50851	LRBA	S	2798	L	S2798L	Benign/Likely benign	0	1	93	51
MUT:LRBA:Val1111Leu	PROT:P50851	LRBA	V	1111	L	V1111L	Benign/Likely benign	0	1	93	1
MUT:LRBA:Val1292Ile	PROT:P50851	LRBA	V	1292	I	V1292I	Benign/Likely benign	0	1	93	7
MUT:LRBA:Val572Ile	PROT:P50851	LRBA	V	572	I	V572I	Likely benign	0	1	93	31
MUT:LRBA:Val911Ile	PROT:P50851	LRBA	V	911	I	V911I	Likely benign	0	1	93	57
MUT:LRIG2:Asp755Glu	PROT:O94898	LRIG2	D	755	E	D755E	Benign	0	1	5	151
MUT:LRIG2:Ile155Leu	PROT:O94898	LRIG2	I	155	L	I155L	Likely benign	0	1	5	8
MUT:LRIG2:Ser563Thr	PROT:O94898	LRIG2	S	563	T	S563T	Benign	0	1	5	18
MUT:LRIG2:Thr765Ile	PROT:O94898	LRIG2	T	765	I	T765I	Benign	0	1	5	141
MUT:LRIG2:Thr915Ile	PROT:O94898	LRIG2	T	915	I	T915I	Benign/Likely benign	0	1	5	3
MUT:LRIG2:Val469Ile	PROT:O94898	LRIG2	V	469	I	V469I	Benign	0	1	5	76
MUT:LRIT3:Asp135Val	PROT:Q3SXY7	LRIT3	D	135	V	D135V	Benign	0	1	1	191
MUT:LRIT3:Met336Leu	PROT:Q3SXY7	LRIT3	M	336	L	M336L	Benign	0	1	1	10
MUT:LRIT3:Pro354Ser	PROT:Q3SXY7	LRIT3	P	354	S	P354S	Likely benign	0	1	1	28
MUT:LRIT3:Ser175Asn	PROT:Q3SXY7	LRIT3	S	175	N	S175N	Benign	0	1	1	151
MUT:LRIT3:Ser190Pro	PROT:Q3SXY7	LRIT3	S	190	P	S190P	Likely benign	0	1	1	136
MUT:LRIT3:Thr177Ser	PROT:Q3SXY7	LRIT3	T	177	S	T177S	Likely benign	0	1	1	149
MUT:LRIT3:Thr481Met	PROT:Q3SXY7	LRIT3	T	481	M	T481M	Benign/Likely benign	0	1	1	155
MUT:LRIT3:Thr53Met	PROT:Q3SXY7	LRIT3	T	53	M	T53M	Benign	0	1	1	273
MUT:LRIT3:Val81Ala	PROT:Q3SXY7	LRIT3	V	81	A	V81A	Likely benign	0	1	1	245
MUT:LRMDA:Asn117Lys	PROT:Q9H2I8	LRMDA	N	117	K	N117K	Likely pathogenic	1	1	2	35
MUT:LRMDA:Leu160Phe	PROT:Q9H2I8	LRMDA	L	160	F	L160F	Benign	0	1	2	7
MUT:LRMDA:Leu42Phe	PROT:Q9H2I8	LRMDA	L	42	F	L42F	Benign	0	1	2	110
MUT:LRP10:Ala501Ser	PROT:Q7Z4F1	LRP10	A	501	S	A501S	Benign	0	5	7	79
MUT:LRP10:Arg231Trp	PROT:Q7Z4F1	LRP10	R	231	W	R231W	Benign	0	3	7	149
MUT:LRP10:Arg48Trp	PROT:Q7Z4F1	LRP10	R	48	W	R48W	Benign	0	1	7	34
MUT:LRP10:Arg562His	PROT:Q7Z4F1	LRP10	R	562	H	R562H	Benign/Likely benign	0	1	7	18
MUT:LRP10:Arg600Cys	PROT:Q7Z4F1	LRP10	R	600	C	R600C	Likely benign	0	1	7	4
MUT:LRP10:Arg600His	PROT:Q7Z4F1	LRP10	R	600	H	R600H	Benign	0	1	7	4
MUT:LRP10:Asp518Asn	PROT:Q7Z4F1	LRP10	D	518	N	D518N	Likely benign	0	1	7	62
MUT:LRP10:Gly326Ser	PROT:Q7Z4F1	LRP10	G	326	S	G326S	Benign	0	1	7	244
MUT:LRP10:Met139Val	PROT:Q7Z4F1	LRP10	M	139	V	M139V	Benign	0	5	7	57
MUT:LRP10:Ser215Pro	PROT:Q7Z4F1	LRP10	S	215	P	S215P	Likely benign	0	1	7	133
MUT:LRP12:Cys355Gly	PROT:Q9Y561	LRP12	C	355	G	C355G	Benign	0	1	17	28
MUT:LRP12:Ile147Val	PROT:Q9Y561	LRP12	I	147	V	I147V	Likely benign	0	1	17	13
MUT:LRP1:Ala217Val	PROT:Q07954	LRP1	A	217	V	A217V	Benign	0	1	16	119
MUT:LRP1:Arg1783Trp	PROT:Q07954	LRP1	R	1783	W	R1783W	Pathogenic	1	1	16	7
MUT:LRP1:Asn2472Ser	PROT:Q07954	LRP1	N	2472	S	N2472S	Likely benign	0	1	16	87
MUT:LRP1:Gln2900Pro	PROT:Q07954	LRP1	Q	2900	P	Q2900P	Benign	0	1	16	317
MUT:LRP1:Gly2546Ser	PROT:Q07954	LRP1	G	2546	S	G2546S	Likely benign	0	1	16	13
MUT:LRP1:Gly3713Arg	PROT:Q07954	LRP1	G	3713	R	G3713R	Likely benign	0	1	16	358
MUT:LRP1:Gly4379Ser	PROT:Q07954	LRP1	G	4379	S	G4379S	Likely benign	0	1	16	130
MUT:LRP1:Lys1245Arg	PROT:Q07954	LRP1	K	1245	R	K1245R	Pathogenic	1	2	16	172
MUT:LRP1:Pro224Ala	PROT:Q07954	LRP1	P	224	A	P224A	Pathogenic	1	1	16	112
MUT:LRP1:Thr2129Lys	PROT:Q07954	LRP1	T	2129	K	T2129K	Pathogenic	1	1	16	339
MUT:LRP4:Ala1203Val	PROT:O75096	LRP4	A	1203	V	A1203V	Benign	0	1	5	228
MUT:LRP4:Arg1277Leu	PROT:O75096	LRP4	R	1277	L	R1277L	Likely pathogenic	1	1	5	302
MUT:LRP4:Arg1538Gln	PROT:O75096	LRP4	R	1538	Q	R1538Q	Benign	0	1	5	215
MUT:LRP4:Arg1646Gln	PROT:O75096	LRP4	R	1646	Q	R1646Q	Benign	0	3	5	107
MUT:LRP4:Arg373Trp	PROT:O75096	LRP4	R	373	W	R373W	Benign/Likely benign	0	1	5	545
MUT:LRP4:Arg610Cys	PROT:O75096	LRP4	R	610	C	R610C	Benign/Likely benign	0	1	5	308
MUT:LRP4:Arg632Cys	PROT:O75096	LRP4	R	632	C	R632C	Likely pathogenic	1	1	5	286
MUT:LRP4:Asn501His	PROT:O75096	LRP4	N	501	H	N501H	Benign/Likely benign	0	1	5	417
MUT:LRP4:Asp137Asn	PROT:O75096	LRP4	D	137	N	D137N	Likely pathogenic	1	1	5	781
MUT:LRP4:Asp1403His	PROT:O75096	LRP4	D	1403	H	D1403H	Likely pathogenic	1	1	5	350
MUT:LRP4:Asp449Asn	PROT:O75096	LRP4	D	449	N	D449N	Pathogenic	1	1	5	469
MUT:LRP4:Asp529Asn	PROT:O75096	LRP4	D	529	N	D529N	Pathogenic	1	1	5	389
MUT:LRP4:Cys160Tyr	PROT:O75096	LRP4	C	160	Y	C160Y	Pathogenic	1	1	5	758
MUT:LRP4:Gln1564Lys	PROT:O75096	LRP4	Q	1564	K	Q1564K	Likely pathogenic	1	1	5	189
MUT:LRP4:Glu1233Ala	PROT:O75096	LRP4	E	1233	A	E1233A	Pathogenic/Likely pathogenic	1	1	5	258
MUT:LRP4:Gly333Arg	PROT:O75096	LRP4	G	333	R	G333R	Benign/Likely benign	0	1	5	585
MUT:LRP4:His391Arg	PROT:O75096	LRP4	H	391	R	H391R	Likely benign	0	1	5	527
MUT:LRP4:Ile1086Val	PROT:O75096	LRP4	I	1086	V	I1086V	Benign	0	3	5	111
MUT:LRP4:Leu1722His	PROT:O75096	LRP4	L	1722	H	L1722H	Benign/Likely benign	0	1	5	31
MUT:LRP4:Met1786Lys	PROT:O75096	LRP4	M	1786	K	M1786K	Likely benign	0	1	5	9
MUT:LRP4:Ser1554Gly	PROT:O75096	LRP4	S	1554	G	S1554G	Benign	0	3	5	199
MUT:LRP4:Thr461Pro	PROT:O75096	LRP4	T	461	P	T461P	Pathogenic	1	1	5	457
MUT:LRP6:Arg173Gly	PROT:O75581	LRP6	R	173	G	R173G	Likely pathogenic	1	1	25	51
MUT:LRP6:Arg385Pro	PROT:O75581	LRP6	R	385	P	R385P	Pathogenic	1	1	25	263
MUT:LRP6:Arg611Cys	PROT:O75581	LRP6	R	611	C	R611C	Pathogenic	1	2	25	122
MUT:LRP6:Asp1130Asn	PROT:O75581	LRP6	D	1130	N	D1130N	Benign	0	1	25	65
MUT:LRP6:Asp411Tyr	PROT:O75581	LRP6	D	411	Y	D411Y	Likely pathogenic	1	1	25	289
MUT:LRP6:Cys1032Phe	PROT:O75581	LRP6	C	1032	F	C1032F	Likely pathogenic	1	1	25	91
MUT:LRP6:Gln1369Arg	PROT:O75581	LRP6	Q	1369	R	Q1369R	Benign	0	1	25	51
MUT:LRP6:Gly537Arg	PROT:O75581	LRP6	G	537	R	G537R	Likely pathogenic	1	1	25	196
MUT:LRP6:Met947Thr	PROT:O75581	LRP6	M	947	T	M947T	Pathogenic	1	1	25	6
MUT:LRP6:Ser1009Gly	PROT:O75581	LRP6	S	1009	G	S1009G	Likely benign	0	1	25	68
MUT:LRP6:Trp242Arg	PROT:O75581	LRP6	W	242	R	W242R	Pathogenic	1	1	25	120
MUT:LRP6:Tyr153Cys	PROT:O75581	LRP6	Y	153	C	Y153C	Likely pathogenic	1	1	25	31
MUT:LRP8:Gln25Leu	PROT:Q14114	LRP8	Q	25	L	Q25L	Likely benign	0	1	4	841
MUT:LRPAP1:Arg330Gln	PROT:P30533	LRPAP1	R	330	Q	R330Q	Likely benign	0	1	9	20
MUT:LRPAP1:Arg37Pro	PROT:P30533	LRPAP1	R	37	P	R37P	Benign	0	1	9	8
MUT:LRPAP1:Asn114Ser	PROT:P30533	LRPAP1	N	114	S	N114S	Benign	0	1	9	39
MUT:LRPAP1:Asp211Asn	PROT:P30533	LRPAP1	D	211	N	D211N	Likely benign	0	1	9	31
MUT:LRPAP1:Gly166Ser	PROT:P30533	LRPAP1	G	166	S	G166S	Benign/Likely benign	0	1	9	1
MUT:LRPAP1:Ile199Val	PROT:P30533	LRPAP1	I	199	V	I199V	Benign	0	1	9	34
MUT:LRRC8B:Asn430Ser	PROT:Q6P9F7	LRRC8B	N	430	S	N430S	Likely benign	0	1	2	30
MUT:LRRTM4:Phe52Leu	PROT:Q86VH4	LRRTM4	F	52	L	F52L	Likely benign	0	1	3	145
MUT:LRSAM1:Ala714Thr	PROT:Q6UWE0	LRSAM1	A	714	T	A714T	Likely benign	0	1	18	110
MUT:LRSAM1:Arg190Gln	PROT:Q6UWE0	LRSAM1	R	190	Q	R190Q	Benign/Likely benign	0	1	18	44
MUT:LRSAM1:Asn318Asp	PROT:Q6UWE0	LRSAM1	N	318	D	N318D	Benign	0	2	18	11
MUT:LRSAM1:Asp90Asn	PROT:Q6UWE0	LRSAM1	D	90	N	D90N	Benign/Likely benign	0	2	18	11
MUT:LRSAM1:Cys690Arg	PROT:Q6UWE0	LRSAM1	C	690	R	C690R	Pathogenic/Likely pathogenic	1	1	18	86
MUT:LRSAM1:Cys694Arg	PROT:Q6UWE0	LRSAM1	C	694	R	C694R	Pathogenic	1	1	18	90
MUT:LRSAM1:Cys694Tyr	PROT:Q6UWE0	LRSAM1	C	694	Y	C694Y	Pathogenic	1	1	18	90
MUT:LRSAM1:Gln322Arg	PROT:Q6UWE0	LRSAM1	Q	322	R	Q322R	Benign/Likely benign	0	2	18	7
MUT:LRSAM1:Gln461Leu	PROT:Q6UWE0	LRSAM1	Q	461	L	Q461L	Likely benign	0	1	18	30
MUT:LRSAM1:Ile157Val	PROT:Q6UWE0	LRSAM1	I	157	V	I157V	Benign/Likely benign	0	2	18	77
MUT:LRSAM1:Met117Thr	PROT:Q6UWE0	LRSAM1	M	117	T	M117T	Benign	0	1	18	38
MUT:LRSAM1:Pro707Leu	PROT:Q6UWE0	LRSAM1	P	707	L	P707L	Pathogenic/Likely pathogenic	1	2	18	103
MUT:LRSAM1:Pro707Ser	PROT:Q6UWE0	LRSAM1	P	707	S	P707S	Pathogenic	1	1	18	103
MUT:LRSAM1:Ser183Leu	PROT:Q6UWE0	LRSAM1	S	183	L	S183L	Benign	0	2	18	51
MUT:LRSAM1:Val659Met	PROT:Q6UWE0	LRSAM1	V	659	M	V659M	Benign/Likely benign	0	1	18	55
MUT:LSM1:Asn40Tyr	PROT:O15116	LSM1	N	40	Y	N40Y	Pathogenic/Likely pathogenic	1	2	2	83
MUT:LTBP1:Thr1456Met	PROT:Q14766	LTBP1	T	1456	M	T1456M	Likely benign	0	1	11	34
MUT:LTBP2:Ala1457Val	PROT:Q14767	LTBP2	A	1457	V	A1457V	Likely benign	0	1	6	62
MUT:LTBP2:Arg1429Gln	PROT:Q14767	LTBP2	R	1429	Q	R1429Q	Benign/Likely benign	0	2	6	34
MUT:LTBP2:Arg37Met	PROT:Q14767	LTBP2	R	37	M	R37M	Benign/Likely benign	0	2	6	213
MUT:LTBP2:Arg495Gln	PROT:Q14767	LTBP2	R	495	Q	R495Q	Likely pathogenic	1	1	6	11
MUT:LTBP2:Asn932Asp	PROT:Q14767	LTBP2	N	932	D	N932D	Likely benign	0	1	6	94
MUT:LTBP2:Asp1662Glu	PROT:Q14767	LTBP2	D	1662	E	D1662E	Likely benign	0	1	6	267
MUT:LTBP2:Cys1222Phe	PROT:Q14767	LTBP2	C	1222	F	C1222F	Benign	0	1	6	173
MUT:LTBP2:Cys1438Tyr	PROT:Q14767	LTBP2	C	1438	Y	C1438Y	Likely pathogenic	1	3	6	43
MUT:LTBP2:Gly1088Ser	PROT:Q14767	LTBP2	G	1088	S	G1088S	Benign	0	2	6	57
MUT:LTBP2:Pro319Gln	PROT:Q14767	LTBP2	P	319	Q	P319Q	Benign	0	2	6	53
MUT:LTBP2:Ser518Ile	PROT:Q14767	LTBP2	S	518	I	S518I	Benign/Likely benign	0	3	6	12
MUT:LTBP2:Ser526Asn	PROT:Q14767	LTBP2	S	526	N	S526N	Likely benign	0	1	6	20
MUT:LTBP2:Val1177Met	PROT:Q14767	LTBP2	V	1177	M	V1177M	Pathogenic	1	2	6	146
MUT:LTBP3:Ala1182Thr	PROT:Q9NS15	LTBP3	A	1182	T	A1182T	Likely benign	0	1	1	180
MUT:LTBP3:Ala438Val	PROT:Q9NS15	LTBP3	A	438	V	A438V	Benign	0	1	1	564
MUT:LTBP3:Ala741Gly	PROT:Q9NS15	LTBP3	A	741	G	A741G	Benign/Likely benign	0	1	1	261
MUT:LTBP3:Arg40Gly	PROT:Q9NS15	LTBP3	R	40	G	R40G	Likely benign	0	1	1	962
MUT:LTBP3:Asp1088Asn	PROT:Q9NS15	LTBP3	D	1088	N	D1088N	Likely benign	0	2	1	86
MUT:LTBP3:Asp177Glu	PROT:Q9NS15	LTBP3	D	177	E	D177E	Likely benign	0	1	1	825
MUT:LTBP3:Cys1239Tyr	PROT:Q9NS15	LTBP3	C	1239	Y	C1239Y	Likely pathogenic	1	1	1	237
MUT:LTBP3:Gln499Arg	PROT:Q9NS15	LTBP3	Q	499	R	Q499R	Likely benign	0	1	1	503
MUT:LTBP3:Gly673Cys	PROT:Q9NS15	LTBP3	G	673	C	G673C	Pathogenic	1	1	1	329
MUT:LTBP3:His823Arg	PROT:Q9NS15	LTBP3	H	823	R	H823R	Likely benign	0	1	1	179
MUT:LTBP3:Leu37Pro	PROT:Q9NS15	LTBP3	L	37	P	L37P	Likely benign	0	1	1	965
MUT:LTBP3:Ser1200Asn	PROT:Q9NS15	LTBP3	S	1200	N	S1200N	Likely benign	0	2	1	198
MUT:LTBP3:Ser519Asn	PROT:Q9NS15	LTBP3	S	519	N	S519N	Benign/Likely benign	0	1	1	483
MUT:LTBP3:Thr161Ala	PROT:Q9NS15	LTBP3	T	161	A	T161A	Likely benign	0	1	1	841
MUT:LTBP3:Val41Ala	PROT:Q9NS15	LTBP3	V	41	A	V41A	Likely benign	0	1	1	961
MUT:LUC7L:Arg314His	PROT:Q9NQ29	LUC7L	R	314	H	R314H	Likely benign	0	1	10	18
MUT:LUC7L:His313Arg	PROT:Q9NQ29	LUC7L	H	313	R	H313R	Benign	0	1	10	18
MUT:LURAP1L:Arg116Cys	PROT:Q8IV03	LURAP1L	R	116	C	R116C	Likely pathogenic	1	1	3	89
MUT:LYPLA1:Gly158Ser	PROT:O75608	LYPLA1	G	158	S	G158S	Likely benign	0	2	2	32
MUT:LYRM7:Asp25Asn	PROT:Q5U5X0	LYRM7	D	25	N	D25N	Pathogenic	1	1	4	2
MUT:LYRM7:Gln72Glu	PROT:Q5U5X0	LYRM7	Q	72	E	Q72E	Likely pathogenic	1	1	4	10
MUT:LYRM7:Met1Thr	PROT:Q5U5X0	LYRM7	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	4	5
MUT:LZTFL1:Ala216Thr	PROT:Q9NQ48	LZTFL1	A	216	T	A216T	Benign/Likely benign	0	2	7	40
MUT:LZTFL1:Asn126His	PROT:Q9NQ48	LZTFL1	N	126	H	N126H	Benign/Likely benign	0	1	7	2
MUT:LZTFL1:Leu87Pro	PROT:Q9NQ48	LZTFL1	L	87	P	L87P	Pathogenic	1	2	7	32
MUT:LZTFL1:Lys229Glu	PROT:Q9NQ48	LZTFL1	K	229	E	K229E	Likely benign	0	1	7	53
MUT:LZTFL1:Met1Ile	PROT:Q9NQ48	LZTFL1	M	1	I	M1I	Likely pathogenic	1	2	7	29
MUT:LZTFL1:Met9Thr	PROT:Q9NQ48	LZTFL1	M	9	T	M9T	Likely benign	0	1	7	21
MUT:MAB21L1:Gln233Pro	PROT:Q13394	MAB21L1	Q	233	P	Q233P	Pathogenic	1	1	5	77
MUT:MAB21L1:Met274Val	PROT:Q13394	MAB21L1	M	274	V	M274V	Likely benign	0	1	5	118
MUT:MAB21L1:Ser124Leu	PROT:Q13394	MAB21L1	S	124	L	S124L	Likely pathogenic	1	1	5	31
MUT:MACF1:Ala3631Thr	PROT:O94854	MACF1	A	3631	T	A3631T	Likely benign	0	1	19	2778
MUT:MACF1:Ala3707Ser	PROT:O94854	MACF1	A	3707	S	A3707S	Likely benign	0	2	19	2854
MUT:MACF1:Ala4015Thr	PROT:O94854	MACF1	A	4015	T	A4015T	Benign	0	1	19	3162
MUT:MACF1:Ala4158Val	PROT:O94854	MACF1	A	4158	V	A4158V	Likely benign	0	1	19	3305
MUT:MACF1:Ala4372Thr	PROT:O94854	MACF1	A	4372	T	A4372T	Likely benign	0	1	19	3519
MUT:MACF1:Ala4397Thr	PROT:O94854	MACF1	A	4397	T	A4397T	Likely benign	0	1	19	3544
MUT:MACF1:Ala4635Thr	PROT:O94854	MACF1	A	4635	T	A4635T	Likely benign	0	1	19	3782
MUT:MACF1:Ala5043Ser	PROT:O94854	MACF1	A	5043	S	A5043S	Benign/Likely benign	0	1	19	4190
MUT:MACF1:Ala5096Thr	PROT:O94854	MACF1	A	5096	T	A5096T	Benign	0	1	19	4243
MUT:MACF1:Ala5218Ser	PROT:O94854	MACF1	A	5218	S	A5218S	Likely benign	0	1	19	4365
MUT:MACF1:Ala5243Thr	PROT:O94854	MACF1	A	5243	T	A5243T	Likely benign	0	1	19	4390
MUT:MACF1:Ala5250Ser	PROT:O94854	MACF1	A	5250	S	A5250S	Likely benign	0	1	19	4397
MUT:MACF1:Ala5407Gly	PROT:O94854	MACF1	A	5407	G	A5407G	Likely benign	0	1	19	4554
MUT:MACF1:Ala5410Thr	PROT:O94854	MACF1	A	5410	T	A5410T	Likely benign	0	1	19	4557
MUT:MACF1:Ala5648Thr	PROT:O94854	MACF1	A	5648	T	A5648T	Likely benign	0	1	19	4795
MUT:MACF1:Ala5664Thr	PROT:O94854	MACF1	A	5664	T	A5664T	Likely benign	0	1	19	4811
MUT:MACF1:Ala5820Pro	PROT:O94854	MACF1	A	5820	P	A5820P	Likely benign	0	1	19	4967
MUT:MACF1:Ala6115Ser	PROT:O94854	MACF1	A	6115	S	A6115S	Likely benign	0	1	19	5262
MUT:MACF1:Ala6116Thr	PROT:O94854	MACF1	A	6116	T	A6116T	Likely benign	0	1	19	5263
MUT:MACF1:Ala6409Thr	PROT:O94854	MACF1	A	6409	T	A6409T	Benign	0	2	19	5556
MUT:MACF1:Ala6435Thr	PROT:O94854	MACF1	A	6435	T	A6435T	Likely benign	0	1	19	5582
MUT:MACF1:Ala6458Pro	PROT:O94854	MACF1	A	6458	P	A6458P	Likely benign	0	1	19	5605
MUT:MACF1:Ala6458Val	PROT:O94854	MACF1	A	6458	V	A6458V	Likely benign	0	1	19	5605
MUT:MACF1:Ala7055Val	PROT:O94854	MACF1	A	7055	V	A7055V	Likely benign	0	1	19	6202
MUT:MACF1:Ala7499Thr	PROT:O94854	MACF1	A	7499	T	A7499T	Likely benign	0	1	19	6646
MUT:MACF1:Ala7519Thr	PROT:O94854	MACF1	A	7519	T	A7519T	Likely benign	0	1	19	6666
MUT:MACF1:Arg1010Cys	PROT:O94854	MACF1	R	1010	C	R1010C	Likely benign	0	1	19	157
MUT:MACF1:Arg1052Gln	PROT:O94854	MACF1	R	1052	Q	R1052Q	Likely benign	0	1	19	199
MUT:MACF1:Arg1127Cys	PROT:O94854	MACF1	R	1127	C	R1127C	Likely benign	0	1	19	274
MUT:MACF1:Arg1127His	PROT:O94854	MACF1	R	1127	H	R1127H	Benign/Likely benign	0	1	19	274
MUT:MACF1:Arg1159His	PROT:O94854	MACF1	R	1159	H	R1159H	Likely benign	0	1	19	306
MUT:MACF1:Arg1239Leu	PROT:O94854	MACF1	R	1239	L	R1239L	Benign/Likely benign	0	1	19	386
MUT:MACF1:Arg1367His	PROT:O94854	MACF1	R	1367	H	R1367H	Likely benign	0	1	19	514
MUT:MACF1:Arg1368Leu	PROT:O94854	MACF1	R	1368	L	R1368L	Likely benign	0	1	19	515
MUT:MACF1:Arg1406Trp	PROT:O94854	MACF1	R	1406	W	R1406W	Likely benign	0	1	19	553
MUT:MACF1:Arg15Trp	PROT:O94854	MACF1	R	15	W	R15W	Likely benign	0	1	19	91
MUT:MACF1:Arg21Trp	PROT:O94854	MACF1	R	21	W	R21W	Likely benign	0	1	19	85
MUT:MACF1:Arg247Gln	PROT:O94854	MACF1	R	247	Q	R247Q	Likely benign	0	1	19	11
MUT:MACF1:Arg30Trp	PROT:O94854	MACF1	R	30	W	R30W	Likely benign	0	1	19	76
MUT:MACF1:Arg3689His	PROT:O94854	MACF1	R	3689	H	R3689H	Benign/Likely benign	0	1	19	2836
MUT:MACF1:Arg3810Cys	PROT:O94854	MACF1	R	3810	C	R3810C	Likely benign	0	1	19	2957
MUT:MACF1:Arg3919Gln	PROT:O94854	MACF1	R	3919	Q	R3919Q	Likely benign	0	1	19	3066
MUT:MACF1:Arg3984Gln	PROT:O94854	MACF1	R	3984	Q	R3984Q	Likely benign	0	1	19	3131
MUT:MACF1:Arg410Gln	PROT:O94854	MACF1	R	410	Q	R410Q	Likely benign	0	1	19	64
MUT:MACF1:Arg4159Gln	PROT:O94854	MACF1	R	4159	Q	R4159Q	Likely benign	0	1	19	3306
MUT:MACF1:Arg4173Pro	PROT:O94854	MACF1	R	4173	P	R4173P	Likely benign	0	1	19	3320
MUT:MACF1:Arg4196Gln	PROT:O94854	MACF1	R	4196	Q	R4196Q	Likely benign	0	1	19	3343
MUT:MACF1:Arg4237Gln	PROT:O94854	MACF1	R	4237	Q	R4237Q	Likely benign	0	1	19	3384
MUT:MACF1:Arg4237Trp	PROT:O94854	MACF1	R	4237	W	R4237W	Likely benign	0	1	19	3384
MUT:MACF1:Arg4328Gln	PROT:O94854	MACF1	R	4328	Q	R4328Q	Likely benign	0	1	19	3475
MUT:MACF1:Arg4328Gly	PROT:O94854	MACF1	R	4328	G	R4328G	Likely benign	0	1	19	3475
MUT:MACF1:Arg4451Cys	PROT:O94854	MACF1	R	4451	C	R4451C	Likely benign	0	1	19	3598
MUT:MACF1:Arg4563Gln	PROT:O94854	MACF1	R	4563	Q	R4563Q	Likely benign	0	1	19	3710
MUT:MACF1:Arg4585Gln	PROT:O94854	MACF1	R	4585	Q	R4585Q	Benign	0	1	19	3732
MUT:MACF1:Arg4585Trp	PROT:O94854	MACF1	R	4585	W	R4585W	Likely benign	0	1	19	3732
MUT:MACF1:Arg4674His	PROT:O94854	MACF1	R	4674	H	R4674H	Likely benign	0	1	19	3821
MUT:MACF1:Arg4766His	PROT:O94854	MACF1	R	4766	H	R4766H	Likely benign	0	1	19	3913
MUT:MACF1:Arg4956Cys	PROT:O94854	MACF1	R	4956	C	R4956C	Likely benign	0	1	19	4103
MUT:MACF1:Arg4981Gln	PROT:O94854	MACF1	R	4981	Q	R4981Q	Likely benign	0	1	19	4128
MUT:MACF1:Arg4981Trp	PROT:O94854	MACF1	R	4981	W	R4981W	Likely benign	0	1	19	4128
MUT:MACF1:Arg5127Gln	PROT:O94854	MACF1	R	5127	Q	R5127Q	Likely benign	0	1	19	4274
MUT:MACF1:Arg5129Gln	PROT:O94854	MACF1	R	5129	Q	R5129Q	Likely benign	0	1	19	4276
MUT:MACF1:Arg5219His	PROT:O94854	MACF1	R	5219	H	R5219H	Likely benign	0	1	19	4366
MUT:MACF1:Arg5229Cys	PROT:O94854	MACF1	R	5229	C	R5229C	Likely benign	0	1	19	4376
MUT:MACF1:Arg5392Gly	PROT:O94854	MACF1	R	5392	G	R5392G	Likely benign	0	1	19	4539
MUT:MACF1:Arg5805His	PROT:O94854	MACF1	R	5805	H	R5805H	Benign/Likely benign	0	1	19	4952
MUT:MACF1:Arg5983Gln	PROT:O94854	MACF1	R	5983	Q	R5983Q	Likely benign	0	1	19	5130
MUT:MACF1:Arg600Gln	PROT:O94854	MACF1	R	600	Q	R600Q	Benign/Likely benign	0	2	19	3
MUT:MACF1:Arg6014Cys	PROT:O94854	MACF1	R	6014	C	R6014C	Likely benign	0	1	19	5161
MUT:MACF1:Arg6014His	PROT:O94854	MACF1	R	6014	H	R6014H	Likely benign	0	1	19	5161
MUT:MACF1:Arg6054His	PROT:O94854	MACF1	R	6054	H	R6054H	Likely benign	0	1	19	5201
MUT:MACF1:Arg6166Gln	PROT:O94854	MACF1	R	6166	Q	R6166Q	Likely benign	0	1	19	5313
MUT:MACF1:Arg6470Gly	PROT:O94854	MACF1	R	6470	G	R6470G	Likely benign	0	1	19	5617
MUT:MACF1:Arg6824Trp	PROT:O94854	MACF1	R	6824	W	R6824W	Likely benign	0	1	19	5971
MUT:MACF1:Arg7033His	PROT:O94854	MACF1	R	7033	H	R7033H	Likely benign	0	1	19	6180
MUT:MACF1:Arg7089Trp	PROT:O94854	MACF1	R	7089	W	R7089W	Likely benign	0	1	19	6236
MUT:MACF1:Arg7096His	PROT:O94854	MACF1	R	7096	H	R7096H	Likely benign	0	1	19	6243
MUT:MACF1:Arg70Gln	PROT:O94854	MACF1	R	70	Q	R70Q	Likely benign	0	1	19	36
MUT:MACF1:Arg7107Gln	PROT:O94854	MACF1	R	7107	Q	R7107Q	Likely benign	0	1	19	6254
MUT:MACF1:Arg7239Ser	PROT:O94854	MACF1	R	7239	S	R7239S	Likely pathogenic	1	1	19	6386
MUT:MACF1:Arg7251Pro	PROT:O94854	MACF1	R	7251	P	R7251P	Likely pathogenic	1	1	19	6398
MUT:MACF1:Arg7268His	PROT:O94854	MACF1	R	7268	H	R7268H	Likely pathogenic	1	1	19	6415
MUT:MACF1:Arg7447Gly	PROT:O94854	MACF1	R	7447	G	R7447G	Likely benign	0	1	19	6594
MUT:MACF1:Arg7469Gln	PROT:O94854	MACF1	R	7469	Q	R7469Q	Likely benign	0	1	19	6616
MUT:MACF1:Arg7478His	PROT:O94854	MACF1	R	7478	H	R7478H	Likely pathogenic	1	1	19	6625
MUT:MACF1:Arg7482Gln	PROT:O94854	MACF1	R	7482	Q	R7482Q	Benign	0	1	19	6629
MUT:MACF1:Arg7486Gln	PROT:O94854	MACF1	R	7486	Q	R7486Q	Likely benign	0	1	19	6633
MUT:MACF1:Arg806Gln	PROT:O94854	MACF1	R	806	Q	R806Q	Likely benign	0	1	19	2
MUT:MACF1:Asn1507Ser	PROT:O94854	MACF1	N	1507	S	N1507S	Benign	0	1	19	654
MUT:MACF1:Asn4260Tyr	PROT:O94854	MACF1	N	4260	Y	N4260Y	Likely benign	0	1	19	3407
MUT:MACF1:Asn4382Ser	PROT:O94854	MACF1	N	4382	S	N4382S	Benign/Likely benign	0	1	19	3529
MUT:MACF1:Asn5071Ser	PROT:O94854	MACF1	N	5071	S	N5071S	Likely benign	0	1	19	4218
MUT:MACF1:Asn5265Ser	PROT:O94854	MACF1	N	5265	S	N5265S	Likely benign	0	1	19	4412
MUT:MACF1:Asn5364Ser	PROT:O94854	MACF1	N	5364	S	N5364S	Likely benign	0	1	19	4511
MUT:MACF1:Asn5571Thr	PROT:O94854	MACF1	N	5571	T	N5571T	Likely benign	0	1	19	4718
MUT:MACF1:Asn6389Lys	PROT:O94854	MACF1	N	6389	K	N6389K	Likely benign	0	1	19	5536
MUT:MACF1:Asn6591Ser	PROT:O94854	MACF1	N	6591	S	N6591S	Likely benign	0	1	19	5738
MUT:MACF1:Asn7531Lys	PROT:O94854	MACF1	N	7531	K	N7531K	Likely benign	0	1	19	6678
MUT:MACF1:Asn864Ser	PROT:O94854	MACF1	N	864	S	N864S	Likely benign	0	1	19	11
MUT:MACF1:Asn884Ser	PROT:O94854	MACF1	N	884	S	N884S	Likely benign	0	1	19	31
MUT:MACF1:Asp1138Glu	PROT:O94854	MACF1	D	1138	E	D1138E	Likely benign	0	1	19	285
MUT:MACF1:Asp1515Gly	PROT:O94854	MACF1	D	1515	G	D1515G	Likely benign	0	1	19	662
MUT:MACF1:Asp3674Val	PROT:O94854	MACF1	D	3674	V	D3674V	Benign	0	1	19	2821
MUT:MACF1:Asp3801Glu	PROT:O94854	MACF1	D	3801	E	D3801E	Likely benign	0	1	19	2948
MUT:MACF1:Asp41Gly	PROT:O94854	MACF1	D	41	G	D41G	Likely benign	0	1	19	65
MUT:MACF1:Asp4369Val	PROT:O94854	MACF1	D	4369	V	D4369V	Benign/Likely benign	0	1	19	3516
MUT:MACF1:Asp4399Glu	PROT:O94854	MACF1	D	4399	E	D4399E	Likely benign	0	1	19	3546
MUT:MACF1:Asp4921Gly	PROT:O94854	MACF1	D	4921	G	D4921G	Likely benign	0	1	19	4068
MUT:MACF1:Asp5390Glu	PROT:O94854	MACF1	D	5390	E	D5390E	Likely benign	0	1	19	4537
MUT:MACF1:Asp5768Glu	PROT:O94854	MACF1	D	5768	E	D5768E	Likely benign	0	1	19	4915
MUT:MACF1:Asp577Asn	PROT:O94854	MACF1	D	577	N	D577N	Benign/Likely benign	0	1	19	17
MUT:MACF1:Asp5785Asn	PROT:O94854	MACF1	D	5785	N	D5785N	Likely benign	0	1	19	4932
MUT:MACF1:Asp6506Asn	PROT:O94854	MACF1	D	6506	N	D6506N	Likely benign	0	1	19	5653
MUT:MACF1:Asp6911Gly	PROT:O94854	MACF1	D	6911	G	D6911G	Likely benign	0	1	19	6058
MUT:MACF1:Asp7293Tyr	PROT:O94854	MACF1	D	7293	Y	D7293Y	Pathogenic/Likely pathogenic	1	3	19	6440
MUT:MACF1:Asp998Gly	PROT:O94854	MACF1	D	998	G	D998G	Likely benign	0	1	19	145
MUT:MACF1:Cys5183Tyr	PROT:O94854	MACF1	C	5183	Y	C5183Y	Likely benign	0	1	19	4330
MUT:MACF1:Cys5546Phe	PROT:O94854	MACF1	C	5546	F	C5546F	Likely benign	0	1	19	4693
MUT:MACF1:Cys7236Phe	PROT:O94854	MACF1	C	7236	F	C7236F	Pathogenic	1	4	19	6383
MUT:MACF1:Cys7295Gly	PROT:O94854	MACF1	C	7295	G	C7295G	Pathogenic/Likely pathogenic	1	3	19	6442
MUT:MACF1:Cys7295Phe	PROT:O94854	MACF1	C	7295	F	C7295F	Pathogenic/Likely pathogenic	1	3	19	6442
MUT:MACF1:Cys7511Tyr	PROT:O94854	MACF1	C	7511	Y	C7511Y	Likely benign	0	1	19	6658
MUT:MACF1:Cys810Phe	PROT:O94854	MACF1	C	810	F	C810F	Likely benign	0	2	19	6
MUT:MACF1:Gln1537Glu	PROT:O94854	MACF1	Q	1537	E	Q1537E	Likely benign	0	1	19	684
MUT:MACF1:Gln327Glu	PROT:O94854	MACF1	Q	327	E	Q327E	Likely benign	0	1	19	17
MUT:MACF1:Gln5042His	PROT:O94854	MACF1	Q	5042	H	Q5042H	Benign/Likely benign	0	2	19	4189
MUT:MACF1:Gln5307Leu	PROT:O94854	MACF1	Q	5307	L	Q5307L	Likely benign	0	1	19	4454
MUT:MACF1:Gln5329Arg	PROT:O94854	MACF1	Q	5329	R	Q5329R	Likely benign	0	1	19	4476
MUT:MACF1:Gln5507Arg	PROT:O94854	MACF1	Q	5507	R	Q5507R	Benign/Likely benign	0	1	19	4654
MUT:MACF1:Gln5535Glu	PROT:O94854	MACF1	Q	5535	E	Q5535E	Benign/Likely benign	0	1	19	4682
MUT:MACF1:Gln5637His	PROT:O94854	MACF1	Q	5637	H	Q5637H	Likely benign	0	1	19	4784
MUT:MACF1:Gln7241His	PROT:O94854	MACF1	Q	7241	H	Q7241H	Likely benign	0	1	19	6388
MUT:MACF1:Glu1090Gly	PROT:O94854	MACF1	E	1090	G	E1090G	Likely benign	0	1	19	237
MUT:MACF1:Glu1448Lys	PROT:O94854	MACF1	E	1448	K	E1448K	Likely benign	0	1	19	595
MUT:MACF1:Glu29Lys	PROT:O94854	MACF1	E	29	K	E29K	Likely benign	0	1	19	77
MUT:MACF1:Glu3897Lys	PROT:O94854	MACF1	E	3897	K	E3897K	Likely benign	0	1	19	3044
MUT:MACF1:Glu3911Lys	PROT:O94854	MACF1	E	3911	K	E3911K	Likely benign	0	1	19	3058
MUT:MACF1:Glu3959Ala	PROT:O94854	MACF1	E	3959	A	E3959A	Likely benign	0	1	19	3106
MUT:MACF1:Glu406Asp	PROT:O94854	MACF1	E	406	D	E406D	Likely benign	0	1	19	60
MUT:MACF1:Glu4356Val	PROT:O94854	MACF1	E	4356	V	E4356V	Likely benign	0	1	19	3503
MUT:MACF1:Glu5160Lys	PROT:O94854	MACF1	E	5160	K	E5160K	Benign	0	1	19	4307
MUT:MACF1:Glu531Gln	PROT:O94854	MACF1	E	531	Q	E531Q	Likely benign	0	1	19	63
MUT:MACF1:Glu5402Gly	PROT:O94854	MACF1	E	5402	G	E5402G	Likely benign	0	1	19	4549
MUT:MACF1:Glu6002Lys	PROT:O94854	MACF1	E	6002	K	E6002K	Benign/Likely benign	0	1	19	5149
MUT:MACF1:Glu625Ala	PROT:O94854	MACF1	E	625	A	E625A	Likely benign	0	1	19	10
MUT:MACF1:Glu6288Asp	PROT:O94854	MACF1	E	6288	D	E6288D	Likely benign	0	1	19	5435
MUT:MACF1:Glu6488Asp	PROT:O94854	MACF1	E	6488	D	E6488D	Likely benign	0	1	19	5635
MUT:MACF1:Glu6727Lys	PROT:O94854	MACF1	E	6727	K	E6727K	Likely benign	0	1	19	5874
MUT:MACF1:Gly3637Asp	PROT:O94854	MACF1	G	3637	D	G3637D	Likely benign	0	1	19	2784
MUT:MACF1:Gly3852Arg	PROT:O94854	MACF1	G	3852	R	G3852R	Likely benign	0	1	19	2999
MUT:MACF1:Gly4412Glu	PROT:O94854	MACF1	G	4412	E	G4412E	Likely benign	0	1	19	3559
MUT:MACF1:Gly4755Ala	PROT:O94854	MACF1	G	4755	A	G4755A	Likely benign	0	1	19	3902
MUT:MACF1:Gly5642Asp	PROT:O94854	MACF1	G	5642	D	G5642D	Likely benign	0	1	19	4789
MUT:MACF1:Gly628Cys	PROT:O94854	MACF1	G	628	C	G628C	Likely benign	0	1	19	9
MUT:MACF1:Gly639Val	PROT:O94854	MACF1	G	639	V	G639V	Benign/Likely benign	0	7	19	2
MUT:MACF1:Gly6508Ala	PROT:O94854	MACF1	G	6508	A	G6508A	Likely benign	0	1	19	5655
MUT:MACF1:Gly6765Arg	PROT:O94854	MACF1	G	6765	R	G6765R	Pathogenic/Likely pathogenic	1	2	19	5912
MUT:MACF1:Gly7064Arg	PROT:O94854	MACF1	G	7064	R	G7064R	Likely benign	0	1	19	6211
MUT:MACF1:Gly7065Ser	PROT:O94854	MACF1	G	7065	S	G7065S	Likely benign	0	1	19	6212
MUT:MACF1:Gly7522Ala	PROT:O94854	MACF1	G	7522	A	G7522A	Benign/Likely benign	0	1	19	6669
MUT:MACF1:His1115Leu	PROT:O94854	MACF1	H	1115	L	H1115L	Benign/Likely benign	0	3	19	262
MUT:MACF1:His1139Arg	PROT:O94854	MACF1	H	1139	R	H1139R	Likely benign	0	1	19	286
MUT:MACF1:His1422Asn	PROT:O94854	MACF1	H	1422	N	H1422N	Likely benign	0	1	19	569
MUT:MACF1:His3837Leu	PROT:O94854	MACF1	H	3837	L	H3837L	Likely benign	0	1	19	2984
MUT:MACF1:His3886Asn	PROT:O94854	MACF1	H	3886	N	H3886N	Likely benign	0	1	19	3033
MUT:MACF1:His5491Tyr	PROT:O94854	MACF1	H	5491	Y	H5491Y	Benign/Likely benign	0	1	19	4638
MUT:MACF1:His6129Arg	PROT:O94854	MACF1	H	6129	R	H6129R	Likely benign	0	1	19	5276
MUT:MACF1:His6525Gln	PROT:O94854	MACF1	H	6525	Q	H6525Q	Benign/Likely benign	0	2	19	5672
MUT:MACF1:Ile1480Val	PROT:O94854	MACF1	I	1480	V	I1480V	Likely benign	0	1	19	627
MUT:MACF1:Ile4123Val	PROT:O94854	MACF1	I	4123	V	I4123V	Likely benign	0	1	19	3270
MUT:MACF1:Ile4660Leu	PROT:O94854	MACF1	I	4660	L	I4660L	Likely benign	0	1	19	3807
MUT:MACF1:Ile4754Leu	PROT:O94854	MACF1	I	4754	L	I4754L	Likely benign	0	1	19	3901
MUT:MACF1:Ile4754Thr	PROT:O94854	MACF1	I	4754	T	I4754T	Likely benign	0	1	19	3901
MUT:MACF1:Ile5316Met	PROT:O94854	MACF1	I	5316	M	I5316M	Likely benign	0	1	19	4463
MUT:MACF1:Ile572Val	PROT:O94854	MACF1	I	572	V	I572V	Likely benign	0	1	19	22
MUT:MACF1:Ile5763Val	PROT:O94854	MACF1	I	5763	V	I5763V	Likely benign	0	1	19	4910
MUT:MACF1:Ile6141Val	PROT:O94854	MACF1	I	6141	V	I6141V	Likely benign	0	1	19	5288
MUT:MACF1:Ile6151Val	PROT:O94854	MACF1	I	6151	V	I6151V	Likely benign	0	1	19	5298
MUT:MACF1:Ile6312Met	PROT:O94854	MACF1	I	6312	M	I6312M	Likely benign	0	1	19	5459
MUT:MACF1:Ile6956Val	PROT:O94854	MACF1	I	6956	V	I6956V	Benign	0	1	19	6103
MUT:MACF1:Leu1099Trp	PROT:O94854	MACF1	L	1099	W	L1099W	Likely benign	0	1	19	246
MUT:MACF1:Leu1195Val	PROT:O94854	MACF1	L	1195	V	L1195V	Likely benign	0	1	19	342
MUT:MACF1:Leu3686Val	PROT:O94854	MACF1	L	3686	V	L3686V	Benign/Likely benign	0	1	19	2833
MUT:MACF1:Leu3694Phe	PROT:O94854	MACF1	L	3694	F	L3694F	Likely benign	0	1	19	2841
MUT:MACF1:Leu3774Phe	PROT:O94854	MACF1	L	3774	F	L3774F	Likely benign	0	1	19	2921
MUT:MACF1:Leu4046Phe	PROT:O94854	MACF1	L	4046	F	L4046F	Likely benign	0	1	19	3193
MUT:MACF1:Leu4091Phe	PROT:O94854	MACF1	L	4091	F	L4091F	Likely benign	0	1	19	3238
MUT:MACF1:Leu4368Val	PROT:O94854	MACF1	L	4368	V	L4368V	Likely benign	0	1	19	3515
MUT:MACF1:Leu6403Phe	PROT:O94854	MACF1	L	6403	F	L6403F	Likely benign	0	1	19	5550
MUT:MACF1:Leu653Phe	PROT:O94854	MACF1	L	653	F	L653F	Likely pathogenic	1	1	19	16
MUT:MACF1:Leu6690Pro	PROT:O94854	MACF1	L	6690	P	L6690P	Likely benign	0	1	19	5837
MUT:MACF1:Leu6869Phe	PROT:O94854	MACF1	L	6869	F	L6869F	Likely benign	0	1	19	6016
MUT:MACF1:Leu6988Met	PROT:O94854	MACF1	L	6988	M	L6988M	Likely benign	0	1	19	6135
MUT:MACF1:Leu82Val	PROT:O94854	MACF1	L	82	V	L82V	Likely benign	0	1	19	24
MUT:MACF1:Leu964Phe	PROT:O94854	MACF1	L	964	F	L964F	Likely benign	0	1	19	111
MUT:MACF1:Lys1136Arg	PROT:O94854	MACF1	K	1136	R	K1136R	Likely benign	0	1	19	283
MUT:MACF1:Lys1481Glu	PROT:O94854	MACF1	K	1481	E	K1481E	Likely benign	0	1	19	628
MUT:MACF1:Lys4161Asn	PROT:O94854	MACF1	K	4161	N	K4161N	Likely benign	0	1	19	3308
MUT:MACF1:Lys4655Arg	PROT:O94854	MACF1	K	4655	R	K4655R	Likely benign	0	1	19	3802
MUT:MACF1:Lys5589Gln	PROT:O94854	MACF1	K	5589	Q	K5589Q	Likely benign	0	1	19	4736
MUT:MACF1:Lys6122Arg	PROT:O94854	MACF1	K	6122	R	K6122R	Likely benign	0	1	19	5269
MUT:MACF1:Lys6302Arg	PROT:O94854	MACF1	K	6302	R	K6302R	Benign	0	1	19	5449
MUT:MACF1:Lys899Glu	PROT:O94854	MACF1	K	899	E	K899E	Likely benign	0	1	19	46
MUT:MACF1:Met4232Val	PROT:O94854	MACF1	M	4232	V	M4232V	Likely benign	0	1	19	3379
MUT:MACF1:Met4238Ile	PROT:O94854	MACF1	M	4238	I	M4238I	Likely benign	0	1	19	3385
MUT:MACF1:Met4352Val	PROT:O94854	MACF1	M	4352	V	M4352V	Benign	0	3	19	3499
MUT:MACF1:Met4948Val	PROT:O94854	MACF1	M	4948	V	M4948V	Likely benign	0	1	19	4095
MUT:MACF1:Met505Thr	PROT:O94854	MACF1	M	505	T	M505T	Likely benign	0	1	19	89
MUT:MACF1:Met5114Thr	PROT:O94854	MACF1	M	5114	T	M5114T	Likely benign	0	1	19	4261
MUT:MACF1:Met56Leu	PROT:O94854	MACF1	M	56	L	M56L	Likely benign	0	1	19	50
MUT:MACF1:Met5717Val	PROT:O94854	MACF1	M	5717	V	M5717V	Likely benign	0	1	19	4864
MUT:MACF1:Met5832Ile	PROT:O94854	MACF1	M	5832	I	M5832I	Likely benign	0	1	19	4979
MUT:MACF1:Met5832Val	PROT:O94854	MACF1	M	5832	V	M5832V	Benign/Likely benign	0	1	19	4979
MUT:MACF1:Met596Leu	PROT:O94854	MACF1	M	596	L	M596L	Likely benign	0	1	19	1
MUT:MACF1:Met6410Ile	PROT:O94854	MACF1	M	6410	I	M6410I	Likely benign	0	1	19	5557
MUT:MACF1:Phe4253Ser	PROT:O94854	MACF1	F	4253	S	F4253S	Likely benign	0	1	19	3400
MUT:MACF1:Phe5100Ile	PROT:O94854	MACF1	F	5100	I	F5100I	Likely benign	0	1	19	4247
MUT:MACF1:Phe6763Cys	PROT:O94854	MACF1	F	6763	C	F6763C	Likely pathogenic	1	1	19	5910
MUT:MACF1:Pro338Thr	PROT:O94854	MACF1	P	338	T	P338T	Likely benign	0	1	19	8
MUT:MACF1:Pro6297Ser	PROT:O94854	MACF1	P	6297	S	P6297S	Likely benign	0	1	19	5444
MUT:MACF1:Pro7011Leu	PROT:O94854	MACF1	P	7011	L	P7011L	Benign/Likely benign	0	2	19	6158
MUT:MACF1:Pro7548Arg	PROT:O94854	MACF1	P	7548	R	P7548R	Likely benign	0	1	19	6695
MUT:MACF1:Pro7548Leu	PROT:O94854	MACF1	P	7548	L	P7548L	Likely benign	0	1	19	6695
MUT:MACF1:Ser1120Gly	PROT:O94854	MACF1	S	1120	G	S1120G	Likely benign	0	1	19	267
MUT:MACF1:Ser1193Leu	PROT:O94854	MACF1	S	1193	L	S1193L	Likely benign	0	1	19	340
MUT:MACF1:Ser31Leu	PROT:O94854	MACF1	S	31	L	S31L	Likely benign	0	1	19	75
MUT:MACF1:Ser33Asn	PROT:O94854	MACF1	S	33	N	S33N	Likely benign	0	1	19	73
MUT:MACF1:Ser3734Asn	PROT:O94854	MACF1	S	3734	N	S3734N	Benign	0	1	19	2881
MUT:MACF1:Ser3915Pro	PROT:O94854	MACF1	S	3915	P	S3915P	Benign/Likely benign	0	2	19	3062
MUT:MACF1:Ser3958Pro	PROT:O94854	MACF1	S	3958	P	S3958P	Benign/Likely benign	0	2	19	3105
MUT:MACF1:Ser4136Leu	PROT:O94854	MACF1	S	4136	L	S4136L	Likely benign	0	1	19	3283
MUT:MACF1:Ser4863Ala	PROT:O94854	MACF1	S	4863	A	S4863A	Likely benign	0	1	19	4010
MUT:MACF1:Ser5299Arg	PROT:O94854	MACF1	S	5299	R	S5299R	Likely benign	0	1	19	4446
MUT:MACF1:Ser5516Tyr	PROT:O94854	MACF1	S	5516	Y	S5516Y	Likely benign	0	1	19	4663
MUT:MACF1:Ser5517Cys	PROT:O94854	MACF1	S	5517	C	S5517C	Likely benign	0	1	19	4664
MUT:MACF1:Ser5673Ala	PROT:O94854	MACF1	S	5673	A	S5673A	Likely benign	0	1	19	4820
MUT:MACF1:Ser6354Asn	PROT:O94854	MACF1	S	6354	N	S6354N	Likely benign	0	1	19	5501
MUT:MACF1:Ser6729Thr	PROT:O94854	MACF1	S	6729	T	S6729T	Benign	0	1	19	5876
MUT:MACF1:Ser7070Asn	PROT:O94854	MACF1	S	7070	N	S7070N	Benign/Likely benign	0	1	19	6217
MUT:MACF1:Ser7485Asn	PROT:O94854	MACF1	S	7485	N	S7485N	Likely benign	0	1	19	6632
MUT:MACF1:Ser809Cys	PROT:O94854	MACF1	S	809	C	S809C	Likely benign	0	1	19	5
MUT:MACF1:Ser951Gly	PROT:O94854	MACF1	S	951	G	S951G	Benign	0	1	19	98
MUT:MACF1:Thr1289Ser	PROT:O94854	MACF1	T	1289	S	T1289S	Likely benign	0	1	19	436
MUT:MACF1:Thr1315Met	PROT:O94854	MACF1	T	1315	M	T1315M	Likely benign	0	1	19	462
MUT:MACF1:Thr1388Met	PROT:O94854	MACF1	T	1388	M	T1388M	Likely benign	0	1	19	535
MUT:MACF1:Thr3712Ile	PROT:O94854	MACF1	T	3712	I	T3712I	Likely benign	0	1	19	2859
MUT:MACF1:Thr3874Ile	PROT:O94854	MACF1	T	3874	I	T3874I	Likely benign	0	1	19	3021
MUT:MACF1:Thr4039Ala	PROT:O94854	MACF1	T	4039	A	T4039A	Likely benign	0	1	19	3186
MUT:MACF1:Thr4182Arg	PROT:O94854	MACF1	T	4182	R	T4182R	Likely benign	0	1	19	3329
MUT:MACF1:Thr4386Ala	PROT:O94854	MACF1	T	4386	A	T4386A	Likely benign	0	1	19	3533
MUT:MACF1:Thr4668Asn	PROT:O94854	MACF1	T	4668	N	T4668N	Likely benign	0	1	19	3815
MUT:MACF1:Thr4769Ile	PROT:O94854	MACF1	T	4769	I	T4769I	Likely benign	0	1	19	3916
MUT:MACF1:Thr5456Ile	PROT:O94854	MACF1	T	5456	I	T5456I	Benign/Likely benign	0	1	19	4603
MUT:MACF1:Thr5645Ala	PROT:O94854	MACF1	T	5645	A	T5645A	Likely benign	0	1	19	4792
MUT:MACF1:Thr6233Ile	PROT:O94854	MACF1	T	6233	I	T6233I	Likely benign	0	1	19	5380
MUT:MACF1:Tyr1345Cys	PROT:O94854	MACF1	Y	1345	C	Y1345C	Likely benign	0	1	19	492
MUT:MACF1:Tyr992Cys	PROT:O94854	MACF1	Y	992	C	Y992C	Likely benign	0	1	19	139
MUT:MACF1:Val1017Gly	PROT:O94854	MACF1	V	1017	G	V1017G	Likely benign	0	1	19	164
MUT:MACF1:Val1146Ile	PROT:O94854	MACF1	V	1146	I	V1146I	Benign/Likely benign	0	1	19	293
MUT:MACF1:Val1154Ile	PROT:O94854	MACF1	V	1154	I	V1154I	Likely benign	0	1	19	301
MUT:MACF1:Val1221Ile	PROT:O94854	MACF1	V	1221	I	V1221I	Likely benign	0	1	19	368
MUT:MACF1:Val1391Ala	PROT:O94854	MACF1	V	1391	A	V1391A	Likely benign	0	1	19	538
MUT:MACF1:Val1398Met	PROT:O94854	MACF1	V	1398	M	V1398M	Likely benign	0	1	19	545
MUT:MACF1:Val236Ile	PROT:O94854	MACF1	V	236	I	V236I	Likely benign	0	1	19	22
MUT:MACF1:Val3754Ile	PROT:O94854	MACF1	V	3754	I	V3754I	Benign/Likely benign	0	2	19	2901
MUT:MACF1:Val4017Met	PROT:O94854	MACF1	V	4017	M	V4017M	Likely benign	0	1	19	3164
MUT:MACF1:Val4559Phe	PROT:O94854	MACF1	V	4559	F	V4559F	Benign/Likely benign	0	2	19	3706
MUT:MACF1:Val4653Ala	PROT:O94854	MACF1	V	4653	A	V4653A	Likely benign	0	1	19	3800
MUT:MACF1:Val4952Met	PROT:O94854	MACF1	V	4952	M	V4952M	Likely benign	0	1	19	4099
MUT:MACF1:Val5058Glu	PROT:O94854	MACF1	V	5058	E	V5058E	Likely benign	0	1	19	4205
MUT:MACF1:Val5095Phe	PROT:O94854	MACF1	V	5095	F	V5095F	Benign/Likely benign	0	1	19	4242
MUT:MACF1:Val5171Ala	PROT:O94854	MACF1	V	5171	A	V5171A	Likely benign	0	1	19	4318
MUT:MACF1:Val5257Leu	PROT:O94854	MACF1	V	5257	L	V5257L	Likely benign	0	1	19	4404
MUT:MACF1:Val5466Ile	PROT:O94854	MACF1	V	5466	I	V5466I	Likely benign	0	1	19	4613
MUT:MACF1:Val5585Ile	PROT:O94854	MACF1	V	5585	I	V5585I	Likely benign	0	1	19	4732
MUT:MACF1:Val7274Met	PROT:O94854	MACF1	V	7274	M	V7274M	Likely pathogenic	1	1	19	6421
MUT:MACF1:Val730Met	PROT:O94854	MACF1	V	730	M	V730M	Likely benign	0	1	19	4
MUT:MACF1:Val840Ile	PROT:O94854	MACF1	V	840	I	V840I	Likely benign	0	1	19	13
MUT:MACF1:Val844Ile	PROT:O94854	MACF1	V	844	I	V844I	Likely benign	0	1	19	9
MUT:MACROH2A1:Arg27Gln	PROT:O75367	MACROH2A1	R	27	Q	R27Q	Likely pathogenic	1	1	25	9
MUT:MAD1L1:Arg59Cys	PROT:Q9Y6D9	MAD1L1	R	59	C	R59C	Benign/Likely benign	0	2	43	2
MUT:MAD2L1:Ile190Val	PROT:Q13257	MAD2L1	I	190	V	I190V	Benign	0	5	12	3
MUT:MADD:Arg161His	PROT:Q8WXG6	MADD	R	161	H	R161H	Benign	0	1	48	67
MUT:MADD:Arg765Gln	PROT:Q8WXG6	MADD	R	765	Q	R765Q	Benign	0	3	48	20
MUT:MADD:Arg994Trp	PROT:Q8WXG6	MADD	R	994	W	R994W	Likely benign	0	1	48	22
MUT:MADD:Asn444Asp	PROT:Q8WXG6	MADD	N	444	D	N444D	Benign/Likely benign	0	1	48	15
MUT:MADD:Asn656Ser	PROT:Q8WXG6	MADD	N	656	S	N656S	Likely pathogenic	1	1	48	13
MUT:MADD:Asn718Ser	PROT:Q8WXG6	MADD	N	718	S	N718S	Likely benign	0	1	48	23
MUT:MADD:Gly305Val	PROT:Q8WXG6	MADD	G	305	V	G305V	Pathogenic	1	1	48	43
MUT:MADD:Pro354Leu	PROT:Q8WXG6	MADD	P	354	L	P354L	Pathogenic	1	1	48	75
MUT:MADD:Ser257Phe	PROT:Q8WXG6	MADD	S	257	F	S257F	Pathogenic	1	1	48	5
MUT:MADD:Thr44Asn	PROT:Q8WXG6	MADD	T	44	N	T44N	Benign	0	1	48	184
MUT:MAFA:Gly266Cys	PROT:Q8NHW3	MAFA	G	266	C	G266C	Benign	0	1	5	48
MUT:MAFA:Gly347Cys	PROT:Q8NHW3	MAFA	G	347	C	G347C	Benign	0	1	5	33
MUT:MAFA:Ser64Phe	PROT:Q8NHW3	MAFA	S	64	F	S64F	Likely pathogenic	1	1	5	1
MUT:MAFA:Thr57Arg	PROT:Q8NHW3	MAFA	T	57	R	T57R	Pathogenic	1	1	5	0
MUT:MAFB:Arg249Gly	PROT:Q9Y5Q3	MAFB	R	249	G	R249G	Likely pathogenic	1	1	10	21
MUT:MAFB:Glu4Gly	PROT:Q9Y5Q3	MAFB	E	4	G	E4G	Likely pathogenic	1	1	10	57
MUT:MAFB:Leu85Met	PROT:Q9Y5Q3	MAFB	L	85	M	L85M	Benign/Likely benign	0	1	10	9
MUT:MAFB:Pro59Arg	PROT:Q9Y5Q3	MAFB	P	59	R	P59R	Likely pathogenic	1	1	10	2
MUT:MAFB:Pro63Leu	PROT:Q9Y5Q3	MAFB	P	63	L	P63L	Pathogenic	1	1	10	1
MUT:MAFB:Pro68Leu	PROT:Q9Y5Q3	MAFB	P	68	L	P68L	Likely pathogenic	1	1	10	1
MUT:MAFB:Pro71Leu	PROT:Q9Y5Q3	MAFB	P	71	L	P71L	Pathogenic	1	1	10	1
MUT:MAFB:Pro71Ser	PROT:Q9Y5Q3	MAFB	P	71	S	P71S	Likely pathogenic	1	1	10	1
MUT:MAFB:Ser304Ala	PROT:Q9Y5Q3	MAFB	S	304	A	S304A	Likely benign	0	1	10	34
MUT:MAFB:Ser54Leu	PROT:Q9Y5Q3	MAFB	S	54	L	S54L	Pathogenic	1	1	10	7
MUT:MAFB:Ser66Phe	PROT:Q9Y5Q3	MAFB	S	66	F	S66F	Likely pathogenic	1	1	10	0
MUT:MAFB:Ser70Ala	PROT:Q9Y5Q3	MAFB	S	70	A	S70A	Pathogenic	1	1	10	0
MUT:MAFB:Ser70Leu	PROT:Q9Y5Q3	MAFB	S	70	L	S70L	Pathogenic/Likely pathogenic	1	1	10	0
MUT:MAFB:Thr58Arg	PROT:Q9Y5Q3	MAFB	T	58	R	T58R	Likely pathogenic	1	2	10	3
MUT:MAFB:Thr62Ala	PROT:Q9Y5Q3	MAFB	T	62	A	T62A	Pathogenic	1	1	10	0
MUT:MAFB:Thr62Ile	PROT:Q9Y5Q3	MAFB	T	62	I	T62I	Pathogenic	1	1	10	0
MUT:MAFB:Thr62Pro	PROT:Q9Y5Q3	MAFB	T	62	P	T62P	Pathogenic	1	1	10	0
MUT:MAGED2:Arg256His	PROT:Q9UNF1	MAGED2	R	256	H	R256H	Likely benign	0	1	35	9
MUT:MAGED2:Arg446Cys	PROT:Q9UNF1	MAGED2	R	446	C	R446C	Likely pathogenic	1	1	35	2
MUT:MAGED2:Glu187Asp	PROT:Q9UNF1	MAGED2	E	187	D	E187D	Benign	0	1	35	3
MUT:MAGED2:Gly588Ser	PROT:Q9UNF1	MAGED2	G	588	S	G588S	Likely benign	0	1	35	60
MUT:MAGED2:Ser162Ala	PROT:Q9UNF1	MAGED2	S	162	A	S162A	Likely benign	0	1	35	0
MUT:MAGEL2:Ala538Glu	PROT:Q9UJ55	MAGEL2	A	538	E	A538E	Pathogenic	1	1	1	530
MUT:MAGEL2:Ala744Thr	PROT:Q9UJ55	MAGEL2	A	744	T	A744T	Likely benign	0	1	1	324
MUT:MAGEL2:Ala764Thr	PROT:Q9UJ55	MAGEL2	A	764	T	A764T	Benign/Likely benign	0	1	1	304
MUT:MAGEL2:Arg887Gly	PROT:Q9UJ55	MAGEL2	R	887	G	R887G	Likely benign	0	1	1	181
MUT:MAGEL2:Arg887Trp	PROT:Q9UJ55	MAGEL2	R	887	W	R887W	Likely benign	0	1	1	181
MUT:MAGEL2:Asp45Asn	PROT:Q9UJ55	MAGEL2	D	45	N	D45N	Likely benign	0	1	1	1023
MUT:MAGEL2:Asp45Glu	PROT:Q9UJ55	MAGEL2	D	45	E	D45E	Likely benign	0	2	1	1023
MUT:MAGEL2:Gln1042His	PROT:Q9UJ55	MAGEL2	Q	1042	H	Q1042H	Likely benign	0	1	1	26
MUT:MAGEL2:Gly957Val	PROT:Q9UJ55	MAGEL2	G	957	V	G957V	Likely benign	0	2	1	111
MUT:MAGEL2:His221Pro	PROT:Q9UJ55	MAGEL2	H	221	P	H221P	Likely pathogenic	1	1	1	847
MUT:MAGEL2:Ile954Thr	PROT:Q9UJ55	MAGEL2	I	954	T	I954T	Likely benign	0	1	1	114
MUT:MAGEL2:Lys1092Asn	PROT:Q9UJ55	MAGEL2	K	1092	N	K1092N	Likely benign	0	1	1	24
MUT:MAGEL2:Met409Arg	PROT:Q9UJ55	MAGEL2	M	409	R	M409R	Likely benign	0	1	1	659
MUT:MAGEL2:Pro1016Ser	PROT:Q9UJ55	MAGEL2	P	1016	S	P1016S	Benign/Likely benign	0	2	1	52
MUT:MAGEL2:Pro123Leu	PROT:Q9UJ55	MAGEL2	P	123	L	P123L	Likely benign	0	1	1	945
MUT:MAGEL2:Pro14Thr	PROT:Q9UJ55	MAGEL2	P	14	T	P14T	Likely benign	0	1	1	1054
MUT:MAGEL2:Pro594Thr	PROT:Q9UJ55	MAGEL2	P	594	T	P594T	Likely benign	0	1	1	474
MUT:MAGEL2:Pro93Ser	PROT:Q9UJ55	MAGEL2	P	93	S	P93S	Pathogenic	1	1	1	975
MUT:MAGEL2:Ser150Ala	PROT:Q9UJ55	MAGEL2	S	150	A	S150A	Likely benign	0	1	1	918
MUT:MAGEL2:Ser788Arg	PROT:Q9UJ55	MAGEL2	S	788	R	S788R	Likely benign	0	1	1	280
MUT:MAGEL2:Thr1082Ala	PROT:Q9UJ55	MAGEL2	T	1082	A	T1082A	Likely benign	0	1	1	14
MUT:MAGEL2:Val130Met	PROT:Q9UJ55	MAGEL2	V	130	M	V130M	Likely benign	0	1	1	938
MUT:MAGI2:Arg738Gln	PROT:Q86UL8	MAGI2	R	738	Q	R738Q	Benign/Likely benign	0	1	11	11
MUT:MAGI2:Asn298Ser	PROT:Q86UL8	MAGI2	N	298	S	N298S	Benign	0	1	11	64
MUT:MAGI2:Gly1304Asp	PROT:Q86UL8	MAGI2	G	1304	D	G1304D	Likely benign	0	1	11	132
MUT:MAGI2:Pro271Leu	PROT:Q86UL8	MAGI2	P	271	L	P271L	Likely benign	0	1	11	91
MUT:MAGT1:Arg150Gln	PROT:Q9H0U3	MAGT1	R	150	Q	R150Q	Likely benign	0	1	5	27
MUT:MAGT1:Arg159Gln	PROT:Q9H0U3	MAGT1	R	159	Q	R159Q	Likely benign	0	1	5	35
MUT:MAGT1:Arg168Gln	PROT:Q9H0U3	MAGT1	R	168	Q	R168Q	Likely benign	0	1	5	26
MUT:MAGT1:Asn177Ser	PROT:Q9H0U3	MAGT1	N	177	S	N177S	Likely benign	0	1	5	17
MUT:MAGT1:Lys324Asn	PROT:Q9H0U3	MAGT1	K	324	N	K324N	Pathogenic	1	2	5	130
MUT:MAGT1:Met14Val	PROT:Q9H0U3	MAGT1	M	14	V	M14V	Benign	0	1	5	51
MUT:MAGT1:Met1Ile	PROT:Q9H0U3	MAGT1	M	1	I	M1I	Benign	0	1	5	64
MUT:MAGT1:Ser11Cys	PROT:Q9H0U3	MAGT1	S	11	C	S11C	Likely benign	0	1	5	54
MUT:MAGT1:Thr15Ile	PROT:Q9H0U3	MAGT1	T	15	I	T15I	Benign	0	1	5	50
MUT:MAGT1:Val23Ile	PROT:Q9H0U3	MAGT1	V	23	I	V23I	Benign/Likely benign	0	2	5	42
MUT:MAGT1:Val311Gly	PROT:Q9H0U3	MAGT1	V	311	G	V311G	Benign/Likely benign	0	2	5	117
MUT:MAGT1:Val74Ile	PROT:Q9H0U3	MAGT1	V	74	I	V74I	Likely benign	0	1	5	2
MUT:MALT1:Ala785Val	PROT:Q9UDY8	MALT1	A	785	V	A785V	Benign	0	1	15	10
MUT:MALT1:Arg217Gly	PROT:Q9UDY8	MALT1	R	217	G	R217G	Benign/Likely benign	0	1	15	36
MUT:MALT1:Asp184Tyr	PROT:Q9UDY8	MALT1	D	184	Y	D184Y	Likely pathogenic	1	1	15	48
MUT:MALT1:Asp73Glu	PROT:Q9UDY8	MALT1	D	73	E	D73E	Likely benign	0	2	15	14
MUT:MALT1:Ile641Val	PROT:Q9UDY8	MALT1	I	641	V	I641V	Likely benign	0	1	15	3
MUT:MALT1:Lys226Arg	PROT:Q9UDY8	MALT1	K	226	R	K226R	Likely benign	0	1	15	27
MUT:MALT1:Ser89Ile	PROT:Q9UDY8	MALT1	S	89	I	S89I	Pathogenic	1	1	15	2
MUT:MALT1:Trp580Ser	PROT:Q9UDY8	MALT1	W	580	S	W580S	Pathogenic	1	1	15	2
MUT:MAMLD1:Ala402Thr	PROT:Q13495	MAMLD1	A	402	T	A402T	Benign/Likely benign	0	1	2	212
MUT:MAMLD1:Arg381Gln	PROT:Q13495	MAMLD1	R	381	Q	R381Q	Likely benign	0	1	2	191
MUT:MAMLD1:Leu431Phe	PROT:Q13495	MAMLD1	L	431	F	L431F	Benign/Likely benign	0	1	2	241
MUT:MAMLD1:Pro567Ser	PROT:Q13495	MAMLD1	P	567	S	P567S	Benign	0	2	2	109
MUT:MAMLD1:Thr151Ala	PROT:Q13495	MAMLD1	T	151	A	T151A	Likely benign	0	1	2	39
MUT:MAMLD1:Val505Ala	PROT:Q13495	MAMLD1	V	505	A	V505A	Benign	0	1	2	171
MUT:MAN2C1:Cys871Ser	PROT:Q9NTJ4	MAN2C1	C	871	S	C871S	Likely pathogenic	1	1	2	59
MUT:MAN2C1:Gly203Arg	PROT:Q9NTJ4	MAN2C1	G	203	R	G203R	Likely pathogenic	1	1	2	78
MUT:MAN2C1:Val741Ile	PROT:Q9NTJ4	MAN2C1	V	741	I	V741I	Likely pathogenic	1	1	2	71
MUT:MANBA:Ala825Ser	PROT:O00462	MANBA	A	825	S	A825S	Benign	0	1	2	733
MUT:MANBA:Arg160Cys	PROT:O00462	MANBA	R	160	C	R160C	Likely benign	0	2	2	68
MUT:MANBA:Arg182Trp	PROT:O00462	MANBA	R	182	W	R182W	Pathogenic/Likely pathogenic	1	1	2	90
MUT:MANBA:His177Arg	PROT:O00462	MANBA	H	177	R	H177R	Likely benign	0	1	2	85
MUT:MANBA:Ile266Val	PROT:O00462	MANBA	I	266	V	I266V	Likely benign	0	1	2	174
MUT:MANBA:Leu749His	PROT:O00462	MANBA	L	749	H	L749H	Benign/Likely benign	0	2	2	657
MUT:MANBA:Leu749Ile	PROT:O00462	MANBA	L	749	I	L749I	Likely benign	0	1	2	657
MUT:MANBA:Pro730Arg	PROT:O00462	MANBA	P	730	R	P730R	Likely benign	0	1	2	638
MUT:MANBA:Pro784Arg	PROT:O00462	MANBA	P	784	R	P784R	Benign/Likely benign	0	1	2	692
MUT:MANBA:Ser505Pro	PROT:O00462	MANBA	S	505	P	S505P	Pathogenic	1	1	2	413
MUT:MANBA:Thr701Met	PROT:O00462	MANBA	T	701	M	T701M	Benign	0	1	2	609
MUT:MANBA:Tyr401Cys	PROT:O00462	MANBA	Y	401	C	Y401C	Likely pathogenic	1	1	2	309
MUT:MANBA:Val133Met	PROT:O00462	MANBA	V	133	M	V133M	Likely benign	0	2	2	41
MUT:MANBA:Val253Ile	PROT:O00462	MANBA	V	253	I	V253I	Benign/Likely benign	0	1	2	161
MUT:MANBA:Val828Ile	PROT:O00462	MANBA	V	828	I	V828I	Benign/Likely benign	0	1	2	736
MUT:MAOA:Ala146Val	PROT:P21397	MAOA	A	146	V	A146V	Likely benign	0	1	5	10
MUT:MAOA:Ala483Glu	PROT:P21397	MAOA	A	483	E	A483E	Likely benign	0	1	5	14
MUT:MAOA:Ala483Val	PROT:P21397	MAOA	A	483	V	A483V	Likely benign	0	1	5	14
MUT:MAOA:Arg172Gln	PROT:P21397	MAOA	R	172	Q	R172Q	Benign	0	2	5	36
MUT:MAOA:Arg284Lys	PROT:P21397	MAOA	R	284	K	R284K	Likely benign	0	1	5	66
MUT:MAOA:Arg45Trp	PROT:P21397	MAOA	R	45	W	R45W	Pathogenic/Likely pathogenic	1	1	5	8
MUT:MAOA:Cys266Phe	PROT:P21397	MAOA	C	266	F	C266F	Pathogenic	1	1	5	48
MUT:MAOA:Glu394Gln	PROT:P21397	MAOA	E	394	Q	E394Q	Likely pathogenic	1	1	5	11
MUT:MAOA:Thr509Ile	PROT:P21397	MAOA	T	509	I	T509I	Likely benign	0	1	5	40
MUT:MAOA:Val244Ile	PROT:P21397	MAOA	V	244	I	V244I	Likely pathogenic	1	1	5	26
MUT:MAP3K20:Arg683Cys	PROT:Q9NYL2	MAP3K20	R	683	C	R683C	Benign	0	1	39	2
MUT:MAP3K20:Phe368Cys	PROT:Q9NYL2	MAP3K20	F	368	C	F368C	Pathogenic	1	2	39	1
MUT:MAP3K20:Ser531Leu	PROT:Q9NYL2	MAP3K20	S	531	L	S531L	Benign	0	3	39	26
MUT:MAP3K6:Ala1061Thr	PROT:O95382	MAP3K6	A	1061	T	A1061T	Likely benign	0	1	8	68
MUT:MAP3K6:Arg1177His	PROT:O95382	MAP3K6	R	1177	H	R1177H	Likely benign	0	1	8	28
MUT:MAP3K6:Arg375Gln	PROT:O95382	MAP3K6	R	375	Q	R375Q	Benign	0	1	8	431
MUT:MAP3K6:Arg499Cys	PROT:O95382	MAP3K6	R	499	C	R499C	Benign	0	1	8	307
MUT:MAP3K6:Arg668Gly	PROT:O95382	MAP3K6	R	668	G	R668G	Benign	0	1	8	138
MUT:MAP3K6:Arg913His	PROT:O95382	MAP3K6	R	913	H	R913H	Benign	0	1	8	1
MUT:MAP3K6:Asn622Lys	PROT:O95382	MAP3K6	N	622	K	N622K	Benign	0	1	8	184
MUT:MAP3K6:Asp200Tyr	PROT:O95382	MAP3K6	D	200	Y	D200Y	Likely benign	0	1	8	606
MUT:MAP3K6:Gly1233Ala	PROT:O95382	MAP3K6	G	1233	A	G1233A	Benign	0	1	8	84
MUT:MAP3K6:Lys1024Glu	PROT:O95382	MAP3K6	K	1024	E	K1024E	Benign	0	1	8	60
MUT:MAP3K6:Pro946Leu	PROT:O95382	MAP3K6	P	946	L	P946L	Benign/Likely benign	0	1	8	18
MUT:MAP3K6:Pro958Thr	PROT:O95382	MAP3K6	P	958	T	P958T	Likely benign	0	1	8	6
MUT:MAP3K6:Thr455Ile	PROT:O95382	MAP3K6	T	455	I	T455I	Benign	0	1	8	351
MUT:MAP3K6:Val207Gly	PROT:O95382	MAP3K6	V	207	G	V207G	Benign	0	1	8	599
MUT:MAP3K6:Val388Ile	PROT:O95382	MAP3K6	V	388	I	V388I	Likely benign	0	1	8	418
MUT:MAP4:Arg23Gln	PROT:P27816	MAP4	R	23	Q	R23Q	Benign	0	1	98	5
MUT:MAP4:Arg23Trp	PROT:P27816	MAP4	R	23	W	R23W	Likely benign	0	1	98	5
MUT:MAP4:Glu441Gln	PROT:P27816	MAP4	E	441	Q	E441Q	Benign	0	1	98	10
MUT:MAP4:Ile386Val	PROT:P27816	MAP4	I	386	V	I386V	Benign	0	1	98	1
MUT:MAP4:Pro135Ser	PROT:P27816	MAP4	P	135	S	P135S	Benign	0	1	98	19
MUT:MAP4:Ser2141Phe	PROT:P27816	MAP4	S	2141	F	S2141F	Likely benign	0	1	98	990
MUT:MAP4:Ser427Tyr	PROT:P27816	MAP4	S	427	Y	S427Y	Benign	0	1	98	24
MUT:MAP4:Thr216Met	PROT:P27816	MAP4	T	216	M	T216M	Benign	0	1	98	0
MUT:MAP4:Val613Met	PROT:P27816	MAP4	V	613	M	V613M	Likely benign	0	1	98	4
MUT:MAP4:Val628Ile	PROT:P27816	MAP4	V	628	I	V628I	Benign	0	1	98	19
MUT:MAPK10:Gly408Val	PROT:P53779	MAPK10	G	408	V	G408V	Likely benign	0	1	15	17
MUT:MAPK7:Ala296Thr	PROT:Q13164	MAPK7	A	296	T	A296T	Pathogenic	1	1	17	26
MUT:MAPK7:Pro587Leu	PROT:Q13164	MAPK7	P	587	L	P587L	Pathogenic	1	1	17	3
MUT:MAPK7:Pro648Leu	PROT:Q13164	MAPK7	P	648	L	P648L	Pathogenic	1	1	17	64
MUT:MAPKAPK5:Gly107Val	PROT:Q8IW41	MAPKAPK5	G	107	V	G107V	Pathogenic	1	1	8	8
MUT:MAPRE2:Arg127Gln	PROT:Q15555	MAPRE2	R	127	Q	R127Q	Likely pathogenic	1	1	30	1
MUT:MAPRE2:Arg143Cys	PROT:Q15555	MAPRE2	R	143	C	R143C	Pathogenic/Likely pathogenic	1	2	30	5
MUT:MAPRE2:Arg173Gln	PROT:Q15555	MAPRE2	R	173	Q	R173Q	Likely pathogenic	1	1	30	6
MUT:MAPRE2:Asn68Ser	PROT:Q15555	MAPRE2	N	68	S	N68S	Pathogenic	1	1	30	56
MUT:MAPRE2:Glu309Ala	PROT:Q15555	MAPRE2	E	309	A	E309A	Likely benign	0	1	30	46
MUT:MAPRE2:Thr242Met	PROT:Q15555	MAPRE2	T	242	M	T242M	Likely benign	0	1	30	4
MUT:MAPRE2:Tyr87Cys	PROT:Q15555	MAPRE2	Y	87	C	Y87C	Pathogenic	1	1	30	37
MUT:MARCHF10:Asn416Ser	PROT:Q8NA82	MARCHF10	N	416	S	N416S	Benign	0	2	3	303
MUT:MARCHF10:Cys662Tyr	PROT:Q8NA82	MARCHF10	C	662	Y	C662Y	Benign	0	1	3	549
MUT:MARCHF10:Glu124Lys	PROT:Q8NA82	MARCHF10	E	124	K	E124K	Likely benign	0	1	3	11
MUT:MARCHF10:Gly587Ser	PROT:Q8NA82	MARCHF10	G	587	S	G587S	Benign	0	1	3	474
MUT:MARCHF10:His429Tyr	PROT:Q8NA82	MARCHF10	H	429	Y	H429Y	Benign	0	1	3	316
MUT:MARCHF10:Ile802Val	PROT:Q8NA82	MARCHF10	I	802	V	I802V	Likely benign	0	1	3	689
MUT:MARCHF10:Lys242Thr	PROT:Q8NA82	MARCHF10	K	242	T	K242T	Benign	0	1	3	129
MUT:MARCHF10:Phe319Ser	PROT:Q8NA82	MARCHF10	F	319	S	F319S	Benign	0	1	3	206
MUT:MARCHF10:Pro122Leu	PROT:Q8NA82	MARCHF10	P	122	L	P122L	Likely benign	0	1	3	9
MUT:MARCHF10:Pro81Ser	PROT:Q8NA82	MARCHF10	P	81	S	P81S	Benign	0	1	3	12
MUT:MARCHF10:Ser206Leu	PROT:Q8NA82	MARCHF10	S	206	L	S206L	Likely benign	0	1	3	93
MUT:MARCHF10:Ser493Leu	PROT:Q8NA82	MARCHF10	S	493	L	S493L	Benign	0	1	3	380
MUT:MARCHF10:Thr560Ile	PROT:Q8NA82	MARCHF10	T	560	I	T560I	Benign	0	1	3	447
MUT:MARS1:Arg301Cys	PROT:P56192	MARS1	R	301	C	R301C	Benign/Likely benign	0	2	29	34
MUT:MARS1:Arg727Gln	PROT:P56192	MARS1	R	727	Q	R727Q	Benign/Likely benign	0	2	29	1
MUT:MARS1:Asp605Val	PROT:P56192	MARS1	D	605	V	D605V	Pathogenic	1	2	29	57
MUT:MARS1:Cys389Tyr	PROT:P56192	MARS1	C	389	Y	C389Y	Pathogenic	1	1	29	14
MUT:MARS1:Ser209Asn	PROT:P56192	MARS1	S	209	N	S209N	Benign/Likely benign	0	1	29	0
MUT:MARS1:Tyr307Cys	PROT:P56192	MARS1	Y	307	C	Y307C	Likely pathogenic	1	1	29	28
MUT:MARS1:Tyr516Cys	PROT:P56192	MARS1	Y	516	C	Y516C	Likely pathogenic	1	1	29	16
MUT:MARS2:Val241Ile	PROT:Q96GW9	MARS2	V	241	I	V241I	Likely benign	0	1	4	102
MUT:MARS2:Val527Ala	PROT:Q96GW9	MARS2	V	527	A	V527A	Benign	0	1	4	25
MUT:MASP1:Ala489Glu	PROT:P48740	MASP1	A	489	E	A489E	Likely benign	0	1	2	88
MUT:MASP1:Arg441His	PROT:P48740	MASP1	R	441	H	R441H	Likely benign	0	2	2	40
MUT:MASP1:Arg504His	PROT:P48740	MASP1	R	504	H	R504H	Likely benign	0	1	2	103
MUT:MASP1:Arg525Gln	PROT:P48740	MASP1	R	525	Q	R525Q	Likely benign	0	1	2	124
MUT:MASP1:Arg525Trp	PROT:P48740	MASP1	R	525	W	R525W	Likely benign	0	1	2	124
MUT:MASP1:Arg576Met	PROT:P48740	MASP1	R	576	M	R576M	Benign	0	1	2	175
MUT:MASP1:Cys630Arg	PROT:P48740	MASP1	C	630	R	C630R	Pathogenic	1	1	2	229
MUT:MASP1:Cys630Phe	PROT:P48740	MASP1	C	630	F	C630F	Likely pathogenic	1	1	2	229
MUT:MASP1:Gly103Ser	PROT:P48740	MASP1	G	103	S	G103S	Benign	0	1	2	292
MUT:MASP1:Gly426Glu	PROT:P48740	MASP1	G	426	E	G426E	Benign/Likely benign	0	1	2	25
MUT:MASP1:Gly666Glu	PROT:P48740	MASP1	G	666	E	G666E	Pathogenic	1	1	2	265
MUT:MASP1:Gly687Arg	PROT:P48740	MASP1	G	687	R	G687R	Pathogenic	1	1	2	286
MUT:MASP1:His497Tyr	PROT:P48740	MASP1	H	497	Y	H497Y	Pathogenic	1	1	2	96
MUT:MASP1:Ile509Thr	PROT:P48740	MASP1	I	509	T	I509T	Likely benign	0	1	2	108
MUT:MASP1:Lys423Glu	PROT:P48740	MASP1	K	423	E	K423E	Likely benign	0	1	2	22
MUT:MASP1:Pro562Ala	PROT:P48740	MASP1	P	562	A	P562A	Benign	0	1	2	161
MUT:MASP1:Val22Met	PROT:P48740	MASP1	V	22	M	V22M	Benign/Likely benign	0	1	2	373
MUT:MASP1:Val327Ile	PROT:P48740	MASP1	V	327	I	V327I	Likely benign	0	1	2	68
MUT:MASP1:Val518Ile	PROT:P48740	MASP1	V	518	I	V518I	Benign/Likely benign	0	1	2	117
MUT:MASP1:Val568Ala	PROT:P48740	MASP1	V	568	A	V568A	Benign	0	2	2	167
MUT:MAST1:Ala1048Ser	PROT:Q9Y2H9	MAST1	A	1048	S	A1048S	Likely benign	0	2	18	62
MUT:MAST1:Ala1303Val	PROT:Q9Y2H9	MAST1	A	1303	V	A1303V	Likely benign	0	1	18	119
MUT:MAST1:Ala1464Thr	PROT:Q9Y2H9	MAST1	A	1464	T	A1464T	Likely benign	0	1	18	36
MUT:MAST1:Arg496Cys	PROT:Q9Y2H9	MAST1	R	496	C	R496C	Likely pathogenic	1	1	18	23
MUT:MAST1:Arg836Leu	PROT:Q9Y2H9	MAST1	R	836	L	R836L	Benign	0	1	18	4
MUT:MAST1:Arg888Trp	PROT:Q9Y2H9	MAST1	R	888	W	R888W	Likely benign	0	1	18	20
MUT:MAST1:Asp237Glu	PROT:Q9Y2H9	MAST1	D	237	E	D237E	Likely benign	0	1	18	80
MUT:MAST1:Cys231Arg	PROT:Q9Y2H9	MAST1	C	231	R	C231R	Pathogenic	1	1	18	86
MUT:MAST1:Glu343Asp	PROT:Q9Y2H9	MAST1	E	343	D	E343D	Likely benign	0	1	18	26
MUT:MAST1:Glu532Gln	PROT:Q9Y2H9	MAST1	E	532	Q	E532Q	Likely pathogenic	1	1	18	13
MUT:MAST1:Gly517Ser	PROT:Q9Y2H9	MAST1	G	517	S	G517S	Pathogenic	1	2	18	2
MUT:MAST1:Leu1180Arg	PROT:Q9Y2H9	MAST1	L	1180	R	L1180R	Likely pathogenic	1	1	18	4
MUT:MAST1:Leu523Pro	PROT:Q9Y2H9	MAST1	L	523	P	L523P	Pathogenic	1	1	18	4
MUT:MAST1:Phe433Ser	PROT:Q9Y2H9	MAST1	F	433	S	F433S	Likely pathogenic	1	1	18	86
MUT:MAST1:Phe588Val	PROT:Q9Y2H9	MAST1	F	588	V	F588V	Likely pathogenic	1	1	18	43
MUT:MAST1:Pro1344Gln	PROT:Q9Y2H9	MAST1	P	1344	Q	P1344Q	Benign/Likely benign	0	1	18	156
MUT:MAST1:Pro1372His	PROT:Q9Y2H9	MAST1	P	1372	H	P1372H	Benign/Likely benign	0	1	18	128
MUT:MAST1:Pro804Ser	PROT:Q9Y2H9	MAST1	P	804	S	P804S	Likely benign	0	1	18	5
MUT:MAST1:Ser1535Leu	PROT:Q9Y2H9	MAST1	S	1535	L	S1535L	Likely benign	0	1	18	31
MUT:MAST1:Thr126Lys	PROT:Q9Y2H9	MAST1	T	126	K	T126K	Likely pathogenic	1	1	18	13
MUT:MAST1:Thr527Asn	PROT:Q9Y2H9	MAST1	T	527	N	T527N	Likely pathogenic	1	1	18	8
MUT:MAST2:Val1137Met	PROT:Q6P0Q8	MAST2	V	1137	M	V1137M	Likely benign	0	5	47	43
MUT:MAST4:Arg1159Trp	PROT:O15021	MAST4	R	1159	W	R1159W	Likely pathogenic	1	1	46	116
MUT:MAST4:Ile898Thr	PROT:O15021	MAST4	I	898	T	I898T	Likely pathogenic	1	1	46	16
MUT:MAST4:Ser2552Trp	PROT:O15021	MAST4	S	2552	W	S2552W	Likely pathogenic	1	1	46	32
MUT:MAT2A:Ala233Val	PROT:P31153	MAT2A	A	233	V	A233V	Likely benign	0	1	16	1
MUT:MAT2A:Glu344Ala	PROT:P31153	MAT2A	E	344	A	E344A	Pathogenic	1	1	16	6
MUT:MAT2A:Ile205Val	PROT:P31153	MAT2A	I	205	V	I205V	Likely benign	0	1	16	23
MUT:MATR3:Ala762Thr	PROT:P43243	MATR3	A	762	T	A762T	Benign	0	2	114	3
MUT:MATR3:Arg841Cys	PROT:P43243	MATR3	R	841	C	R841C	Benign/Likely benign	0	2	114	5
MUT:MATR3:Asn787Ser	PROT:P43243	MATR3	N	787	S	N787S	Benign/Likely benign	0	2	114	7
MUT:MATR3:His337Arg	PROT:P43243	MATR3	H	337	R	H337R	Likely benign	0	2	114	11
MUT:MATR3:Ile89Val	PROT:P43243	MATR3	I	89	V	I89V	Likely benign	0	1	114	9
MUT:MATR3:Ser85Cys	PROT:P43243	MATR3	S	85	C	S85C	Pathogenic	1	1	114	8
MUT:MAX:Ala67Asp	PROT:P61244	MAX	A	67	D	A67D	Pathogenic/Likely pathogenic	1	2	26	1
MUT:MAX:Ile71Asn	PROT:P61244	MAX	I	71	N	I71N	Likely pathogenic	1	1	26	1
MUT:MAX:Met1Ile	PROT:P61244	MAX	M	1	I	M1I	Pathogenic	1	2	26	1
MUT:MAX:Met1Val	PROT:P61244	MAX	M	1	V	M1V	Pathogenic	1	2	26	1
MUT:MAX:Met74Val	PROT:P61244	MAX	M	74	V	M74V	Likely pathogenic	1	1	26	1
MUT:MAX:Tyr115Phe	PROT:P61244	MAX	Y	115	F	Y115F	Likely benign	0	1	26	3
MUT:MBD1:Pro401Ala	PROT:Q9UIS9	MBD1	P	401	A	P401A	Benign	0	1	15	2
MUT:MBTPS1:Arg929His	PROT:Q14703	MBTPS1	R	929	H	R929H	Likely benign	0	1	9	5
MUT:MBTPS1:Asp365Gly	PROT:Q14703	MBTPS1	D	365	G	D365G	Pathogenic	1	1	9	78
MUT:MBTPS1:Asp984Asn	PROT:Q14703	MBTPS1	D	984	N	D984N	Benign/Likely benign	0	1	9	50
MUT:MBTPS1:Gly752Val	PROT:Q14703	MBTPS1	G	752	V	G752V	Likely pathogenic	1	1	9	136
MUT:MBTPS1:Gly981Ser	PROT:Q14703	MBTPS1	G	981	S	G981S	Benign/Likely benign	0	1	9	47
MUT:MBTPS1:Ile6Thr	PROT:Q14703	MBTPS1	I	6	T	I6T	Benign/Likely benign	0	2	9	72
MUT:MBTPS1:Tyr54Cys	PROT:Q14703	MBTPS1	Y	54	C	Y54C	Benign	0	1	9	24
MUT:MBTPS1:Val145Ile	PROT:Q14703	MBTPS1	V	145	I	V145I	Benign	0	1	9	8
MUT:MBTPS1:Val319Phe	PROT:Q14703	MBTPS1	V	319	F	V319F	Likely pathogenic	1	1	9	84
MUT:MBTPS1:Val355Gly	PROT:Q14703	MBTPS1	V	355	G	V355G	Pathogenic	1	1	9	88
MUT:MBTPS1:Val721Ile	PROT:Q14703	MBTPS1	V	721	I	V721I	Likely benign	0	1	9	105
MUT:MBTPS1:Val801Ile	PROT:Q14703	MBTPS1	V	801	I	V801I	Likely benign	0	1	9	133
MUT:MC1R:Ala166Gly	PROT:Q01726	MC1R	A	166	G	A166G	Benign/Likely benign	0	1	3	9
MUT:MC1R:Ala218Thr	PROT:Q01726	MC1R	A	218	T	A218T	Likely benign	0	2	3	61
MUT:MC1R:Ala81Pro	PROT:Q01726	MC1R	A	81	P	A81P	Benign/Likely benign	0	1	3	76
MUT:MC1R:Arg163Gln	PROT:Q01726	MC1R	R	163	Q	R163Q	Benign/Likely benign	0	1	3	6
MUT:MC1R:Arg67Gln	PROT:Q01726	MC1R	R	67	Q	R67Q	Benign/Likely benign	0	2	3	90
MUT:MC1R:Asn281Ser	PROT:Q01726	MC1R	N	281	S	N281S	Likely benign	0	1	3	27
MUT:MC1R:Gly104Ser	PROT:Q01726	MC1R	G	104	S	G104S	Likely benign	0	1	3	53
MUT:MC1R:Phe196Leu	PROT:Q01726	MC1R	F	196	L	F196L	Benign/Likely benign	0	2	3	39
MUT:MC1R:Phe45Leu	PROT:Q01726	MC1R	F	45	L	F45L	Benign/Likely benign	0	1	3	112
MUT:MC1R:Ser47Ile	PROT:Q01726	MC1R	S	47	I	S47I	Likely benign	0	1	3	110
MUT:MC1R:Thr95Met	PROT:Q01726	MC1R	T	95	M	T95M	Benign/Likely benign	0	1	3	62
MUT:MC1R:Val122Met	PROT:Q01726	MC1R	V	122	M	V122M	Benign/Likely benign	0	3	3	35
MUT:MC1R:Val156Leu	PROT:Q01726	MC1R	V	156	L	V156L	Benign/Likely benign	0	1	3	1
MUT:MC1R:Val60Leu	PROT:Q01726	MC1R	V	60	L	V60L	Benign/Likely benign	0	3	3	97
MUT:MC1R:Val92Met	PROT:Q01726	MC1R	V	92	M	V92M	Benign	0	3	3	65
MUT:MC2R:Ala126Ser	PROT:Q01718	MC2R	A	126	S	A126S	Pathogenic	1	1	3	17
MUT:MC2R:Ala252Thr	PROT:Q01718	MC2R	A	252	T	A252T	Likely benign	0	1	3	28
MUT:MC2R:Arg128Cys	PROT:Q01718	MC2R	R	128	C	R128C	Pathogenic	1	1	3	15
MUT:MC2R:Arg137Pro	PROT:Q01718	MC2R	R	137	P	R137P	Pathogenic	1	1	3	6
MUT:MC2R:Arg137Trp	PROT:Q01718	MC2R	R	137	W	R137W	Pathogenic/Likely pathogenic	1	2	3	6
MUT:MC2R:Arg145Cys	PROT:Q01718	MC2R	R	145	C	R145C	Likely pathogenic	1	2	3	2
MUT:MC2R:Arg146His	PROT:Q01718	MC2R	R	146	H	R146H	Pathogenic/Likely pathogenic	1	1	3	3
MUT:MC2R:Asn13Asp	PROT:Q01718	MC2R	N	13	D	N13D	Likely benign	0	1	3	130
MUT:MC2R:Asp107Asn	PROT:Q01718	MC2R	D	107	N	D107N	Pathogenic	1	1	3	36
MUT:MC2R:Cys251Phe	PROT:Q01718	MC2R	C	251	F	C251F	Pathogenic	1	1	3	29
MUT:MC2R:Gly226Arg	PROT:Q01718	MC2R	G	226	R	G226R	Likely pathogenic	1	1	3	18
MUT:MC2R:Leu225Arg	PROT:Q01718	MC2R	L	225	R	L225R	Pathogenic	1	1	3	17
MUT:MC2R:Phe278Cys	PROT:Q01718	MC2R	F	278	C	F278C	Benign	0	2	3	2
MUT:MC2R:Ser120Arg	PROT:Q01718	MC2R	S	120	R	S120R	Pathogenic	1	1	3	23
MUT:MC2R:Ser74Ile	PROT:Q01718	MC2R	S	74	I	S74I	Pathogenic	1	2	3	69
MUT:MC2R:Ser7Leu	PROT:Q01718	MC2R	S	7	L	S7L	Likely benign	0	1	3	136
MUT:MC2R:Thr33Ile	PROT:Q01718	MC2R	T	33	I	T33I	Likely benign	0	1	3	110
MUT:MC2R:Trp155Cys	PROT:Q01718	MC2R	W	155	C	W155C	Likely pathogenic	1	1	3	12
MUT:MC2R:Tyr254Cys	PROT:Q01718	MC2R	Y	254	C	Y254C	Pathogenic	1	1	3	26
MUT:MC2R:Val142Leu	PROT:Q01718	MC2R	V	142	L	V142L	Pathogenic	1	1	3	1
MUT:MC4R:Ala303Thr	PROT:P32245	MC4R	A	303	T	A303T	Likely pathogenic	1	1	7	9
MUT:MC4R:Arg165Gln	PROT:P32245	MC4R	R	165	Q	R165Q	Pathogenic/Likely pathogenic	1	5	7	118
MUT:MC4R:Arg165Trp	PROT:P32245	MC4R	R	165	W	R165W	Pathogenic/Likely pathogenic	1	4	7	118
MUT:MC4R:Arg236Cys	PROT:P32245	MC4R	R	236	C	R236C	Likely benign	0	2	7	76
MUT:MC4R:Asn62Ser	PROT:P32245	MC4R	N	62	S	N62S	Likely pathogenic	1	2	7	15
MUT:MC4R:Asn97Asp	PROT:P32245	MC4R	N	97	D	N97D	Pathogenic	1	1	7	50
MUT:MC4R:Asp90Asn	PROT:P32245	MC4R	D	90	N	D90N	Pathogenic	1	2	7	43
MUT:MC4R:Cys271Arg	PROT:P32245	MC4R	C	271	R	C271R	Pathogenic/Likely pathogenic	1	3	7	41
MUT:MC4R:Cys271Tyr	PROT:P32245	MC4R	C	271	Y	C271Y	Pathogenic	1	5	7	41
MUT:MC4R:Gln43Lys	PROT:P32245	MC4R	Q	43	K	Q43K	Likely pathogenic	1	1	7	2
MUT:MC4R:Glu61Lys	PROT:P32245	MC4R	E	61	K	E61K	Pathogenic/Likely pathogenic	1	6	7	14
MUT:MC4R:Gly181Asp	PROT:P32245	MC4R	G	181	D	G181D	Pathogenic/Likely pathogenic	1	1	7	131
MUT:MC4R:Ile102Ser	PROT:P32245	MC4R	I	102	S	I102S	Pathogenic	1	1	7	55
MUT:MC4R:Ile102Thr	PROT:P32245	MC4R	I	102	T	I102T	Pathogenic	1	2	7	55
MUT:MC4R:Ile121Thr	PROT:P32245	MC4R	I	121	T	I121T	Likely pathogenic	1	1	7	74
MUT:MC4R:Ile125Lys	PROT:P32245	MC4R	I	125	K	I125K	Pathogenic/Likely pathogenic	1	2	7	78
MUT:MC4R:Ile251Leu	PROT:P32245	MC4R	I	251	L	I251L	Benign/Likely benign	0	4	7	61
MUT:MC4R:Ile301Thr	PROT:P32245	MC4R	I	301	T	I301T	Pathogenic	1	1	7	11
MUT:MC4R:Ile316Ser	PROT:P32245	MC4R	I	316	S	I316S	Pathogenic/Likely pathogenic	1	3	7	4
MUT:MC4R:Ile69Arg	PROT:P32245	MC4R	I	69	R	I69R	Pathogenic	1	1	7	22
MUT:MC4R:Leu86Phe	PROT:P32245	MC4R	L	86	F	L86F	Likely pathogenic	1	1	7	39
MUT:MC4R:Met161Thr	PROT:P32245	MC4R	M	161	T	M161T	Likely pathogenic	1	1	7	114
MUT:MC4R:Met91Arg	PROT:P32245	MC4R	M	91	R	M91R	Likely pathogenic	1	1	7	44
MUT:MC4R:Phe280Leu	PROT:P32245	MC4R	F	280	L	F280L	Pathogenic	1	1	7	32
MUT:MC4R:Phe284Leu	PROT:P32245	MC4R	F	284	L	F284L	Likely pathogenic	1	1	7	28
MUT:MC4R:Phe51Leu	PROT:P32245	MC4R	F	51	L	F51L	Likely pathogenic	1	1	7	4
MUT:MC4R:Pro260Gln	PROT:P32245	MC4R	P	260	Q	P260Q	Likely pathogenic	1	1	7	52
MUT:MC4R:Pro275Ser	PROT:P32245	MC4R	P	275	S	P275S	Pathogenic	1	1	7	37
MUT:MC4R:Ser136Phe	PROT:P32245	MC4R	S	136	F	S136F	Pathogenic	1	1	7	89
MUT:MC4R:Ser139Arg	PROT:P32245	MC4R	S	139	R	S139R	Likely pathogenic	1	1	7	92
MUT:MC4R:Ser180Pro	PROT:P32245	MC4R	S	180	P	S180P	Likely pathogenic	1	1	7	132
MUT:MC4R:Ser58Cys	PROT:P32245	MC4R	S	58	C	S58C	Pathogenic	1	1	7	11
MUT:MC4R:Tyr212Cys	PROT:P32245	MC4R	Y	212	C	Y212C	Likely pathogenic	1	1	7	100
MUT:MC4R:Val103Ile	PROT:P32245	MC4R	V	103	I	V103I	Benign	0	7	7	56
MUT:MCCC1:Ala289Val	PROT:Q96RQ3	MCCC1	A	289	V	A289V	Likely pathogenic	1	1	24	6
MUT:MCCC1:Ala435Thr	PROT:Q96RQ3	MCCC1	A	435	T	A435T	Pathogenic	1	2	24	28
MUT:MCCC1:Ala609Val	PROT:Q96RQ3	MCCC1	A	609	V	A609V	Likely benign	0	2	24	28
MUT:MCCC1:Arg196Gly	PROT:Q96RQ3	MCCC1	R	196	G	R196G	Likely benign	0	1	24	24
MUT:MCCC1:Arg385Gly	PROT:Q96RQ3	MCCC1	R	385	G	R385G	Likely pathogenic	1	1	24	18
MUT:MCCC1:Arg385Ser	PROT:Q96RQ3	MCCC1	R	385	S	R385S	Pathogenic/Likely pathogenic	1	2	24	18
MUT:MCCC1:Arg409Gln	PROT:Q96RQ3	MCCC1	R	409	Q	R409Q	Likely benign	0	1	24	2
MUT:MCCC1:Arg409Pro	PROT:Q96RQ3	MCCC1	R	409	P	R409P	Likely benign	0	1	24	2
MUT:MCCC1:Arg421Trp	PROT:Q96RQ3	MCCC1	R	421	W	R421W	Pathogenic/Likely pathogenic	1	2	24	14
MUT:MCCC1:Arg444His	PROT:Q96RQ3	MCCC1	R	444	H	R444H	Pathogenic/Likely pathogenic	1	2	24	37
MUT:MCCC1:Arg500Gln	PROT:Q96RQ3	MCCC1	R	500	Q	R500Q	Benign/Likely benign	0	3	24	18
MUT:MCCC1:Arg66Cys	PROT:Q96RQ3	MCCC1	R	66	C	R66C	Likely pathogenic	1	2	24	14
MUT:MCCC1:Asp524Asn	PROT:Q96RQ3	MCCC1	D	524	N	D524N	Likely benign	0	1	24	6
MUT:MCCC1:Asp532His	PROT:Q96RQ3	MCCC1	D	532	H	D532H	Pathogenic	1	1	24	3
MUT:MCCC1:Cys276Arg	PROT:Q96RQ3	MCCC1	C	276	R	C276R	Likely pathogenic	1	1	24	19
MUT:MCCC1:Glu229Gly	PROT:Q96RQ3	MCCC1	E	229	G	E229G	Benign	0	1	24	1
MUT:MCCC1:Glu288Gly	PROT:Q96RQ3	MCCC1	E	288	G	E288G	Pathogenic/Likely pathogenic	1	3	24	7
MUT:MCCC1:Glu366Lys	PROT:Q96RQ3	MCCC1	E	366	K	E366K	Likely pathogenic	1	1	24	1
MUT:MCCC1:Glu59Gly	PROT:Q96RQ3	MCCC1	E	59	G	E59G	Likely pathogenic	1	1	24	18
MUT:MCCC1:Glu717Lys	PROT:Q96RQ3	MCCC1	E	717	K	E717K	Benign	0	2	24	2
MUT:MCCC1:Gly180Val	PROT:Q96RQ3	MCCC1	G	180	V	G180V	Pathogenic/Likely pathogenic	1	1	24	25
MUT:MCCC1:His464Pro	PROT:Q96RQ3	MCCC1	H	464	P	H464P	Benign	0	1	24	54
MUT:MCCC1:Ile434Met	PROT:Q96RQ3	MCCC1	I	434	M	I434M	Pathogenic/Likely pathogenic	1	2	24	27
MUT:MCCC1:Ile460Met	PROT:Q96RQ3	MCCC1	I	460	M	I460M	Pathogenic	1	1	24	53
MUT:MCCC1:Ile467Val	PROT:Q96RQ3	MCCC1	I	467	V	I467V	Likely benign	0	1	24	51
MUT:MCCC1:Leu437Pro	PROT:Q96RQ3	MCCC1	L	437	P	L437P	Likely pathogenic	1	1	24	30
MUT:MCCC1:Leu455Phe	PROT:Q96RQ3	MCCC1	L	455	F	L455F	Likely pathogenic	1	1	24	48
MUT:MCCC1:Leu498Phe	PROT:Q96RQ3	MCCC1	L	498	F	L498F	Likely benign	0	1	24	20
MUT:MCCC1:Lys328Asn	PROT:Q96RQ3	MCCC1	K	328	N	K328N	Likely benign	0	2	24	32
MUT:MCCC1:Met1Thr	PROT:Q96RQ3	MCCC1	M	1	T	M1T	Pathogenic	1	2	24	4
MUT:MCCC1:Met1Val	PROT:Q96RQ3	MCCC1	M	1	V	M1V	Likely pathogenic	1	2	24	4
MUT:MCCC1:Met325Arg	PROT:Q96RQ3	MCCC1	M	325	R	M325R	Pathogenic/Likely pathogenic	1	2	24	29
MUT:MCCC1:Pro152Leu	PROT:Q96RQ3	MCCC1	P	152	L	P152L	Likely pathogenic	1	1	24	3
MUT:MCCC1:Ser507Phe	PROT:Q96RQ3	MCCC1	S	507	F	S507F	Likely benign	0	1	24	11
MUT:MCCC1:Ser535Phe	PROT:Q96RQ3	MCCC1	S	535	F	S535F	Likely pathogenic	1	1	24	0
MUT:MCCC1:Ser591Asn	PROT:Q96RQ3	MCCC1	S	591	N	S591N	Benign/Likely benign	0	1	24	10
MUT:MCCC1:Thr465Ile	PROT:Q96RQ3	MCCC1	T	465	I	T465I	Likely pathogenic	1	2	24	53
MUT:MCCC1:Tyr387Cys	PROT:Q96RQ3	MCCC1	Y	387	C	Y387C	Likely benign	0	1	24	19
MUT:MCCC1:Tyr430Cys	PROT:Q96RQ3	MCCC1	Y	430	C	Y430C	Likely pathogenic	1	1	24	23
MUT:MCFD2:Asp122Asn	PROT:Q8NI22	MCFD2	D	122	N	D122N	Likely pathogenic	1	1	4	8
MUT:MCFD2:Asp129Glu	PROT:Q8NI22	MCFD2	D	129	E	D129E	Pathogenic	1	1	4	1
MUT:MCFD2:Asp81Tyr	PROT:Q8NI22	MCFD2	D	81	Y	D81Y	Pathogenic	1	1	4	19
MUT:MCFD2:Ile136Thr	PROT:Q8NI22	MCFD2	I	136	T	I136T	Pathogenic	1	1	4	1
MUT:MCFD2:Leu16Pro	PROT:Q8NI22	MCFD2	L	16	P	L16P	Likely pathogenic	1	1	4	46
MUT:MCM3AP:Ala1795Thr	PROT:O60318	MCM3AP	A	1795	T	A1795T	Likely benign	0	1	31	6
MUT:MCM3AP:Ala268Thr	PROT:O60318	MCM3AP	A	268	T	A268T	Likely benign	0	1	31	18
MUT:MCM3AP:Ala867Asp	PROT:O60318	MCM3AP	A	867	D	A867D	Pathogenic	1	1	31	3
MUT:MCM3AP:Arg1314Trp	PROT:O60318	MCM3AP	R	1314	W	R1314W	Likely benign	0	6	31	134
MUT:MCM3AP:Arg1831Cys	PROT:O60318	MCM3AP	R	1831	C	R1831C	Benign	0	2	31	5
MUT:MCM3AP:Arg333Leu	PROT:O60318	MCM3AP	R	333	L	R333L	Likely benign	0	2	31	3
MUT:MCM3AP:Arg878His	PROT:O60318	MCM3AP	R	878	H	R878H	Pathogenic	1	1	31	5
MUT:MCM3AP:Arg906His	PROT:O60318	MCM3AP	R	906	H	R906H	Benign	0	1	31	33
MUT:MCM3AP:Asn381Ser	PROT:O60318	MCM3AP	N	381	S	N381S	Likely benign	0	1	31	27
MUT:MCM3AP:Cys1719Arg	PROT:O60318	MCM3AP	C	1719	R	C1719R	Likely benign	0	1	31	66
MUT:MCM3AP:Gln1159Arg	PROT:O60318	MCM3AP	Q	1159	R	Q1159R	Likely benign	0	1	31	19
MUT:MCM3AP:Glu915Lys	PROT:O60318	MCM3AP	E	915	K	E915K	Pathogenic	1	1	31	32
MUT:MCM3AP:Ile1133Val	PROT:O60318	MCM3AP	I	1133	V	I1133V	Likely benign	0	1	31	6
MUT:MCM3AP:Ile1541Val	PROT:O60318	MCM3AP	I	1541	V	I1541V	Likely benign	0	1	31	14
MUT:MCM3AP:Leu25Phe	PROT:O60318	MCM3AP	L	25	F	L25F	Likely benign	0	1	31	261
MUT:MCM3AP:Leu870Ser	PROT:O60318	MCM3AP	L	870	S	L870S	Pathogenic	1	1	31	3
MUT:MCM3AP:Leu945Val	PROT:O60318	MCM3AP	L	945	V	L945V	Benign/Likely benign	0	1	31	2
MUT:MCM3AP:Met288Val	PROT:O60318	MCM3AP	M	288	V	M288V	Benign/Likely benign	0	1	31	2
MUT:MCM3AP:Ser214Asn	PROT:O60318	MCM3AP	S	214	N	S214N	Likely benign	0	1	31	72
MUT:MCM3AP:Ser312Leu	PROT:O60318	MCM3AP	S	312	L	S312L	Likely benign	0	1	31	12
MUT:MCM3AP:Ser951Pro	PROT:O60318	MCM3AP	S	951	P	S951P	Pathogenic	1	1	31	4
MUT:MCM3AP:Thr4Pro	PROT:O60318	MCM3AP	T	4	P	T4P	Likely benign	0	1	31	282
MUT:MCM3AP:Val1041Ala	PROT:O60318	MCM3AP	V	1041	A	V1041A	Likely benign	0	1	31	86
MUT:MCM3AP:Val1062Met	PROT:O60318	MCM3AP	V	1062	M	V1062M	Benign	0	1	31	77
MUT:MCM3AP:Val1272Met	PROT:O60318	MCM3AP	V	1272	M	V1272M	Pathogenic/Likely pathogenic	1	1	31	132
MUT:MCM3AP:Val1369Gly	PROT:O60318	MCM3AP	V	1369	G	V1369G	Likely benign	0	1	31	79
MUT:MCM3AP:Val278Phe	PROT:O60318	MCM3AP	V	278	F	V278F	Likely benign	0	1	31	8
MUT:MCM6:Arg136His	PROT:Q14566	MCM6	R	136	H	R136H	Likely benign	0	1	46	28
MUT:MCM6:Arg92Gln	PROT:Q14566	MCM6	R	92	Q	R92Q	Likely benign	0	10	46	3
MUT:MCM6:Arg92Trp	PROT:Q14566	MCM6	R	92	W	R92W	Likely benign	0	1	46	3
MUT:MCM6:Asn361Ser	PROT:Q14566	MCM6	N	361	S	N361S	Benign	0	9	46	4
MUT:MCM6:Tyr810His	PROT:Q14566	MCM6	Y	810	H	Y810H	Benign/Likely benign	0	1	46	14
MUT:MCM8:Arg272Lys	PROT:Q9UJA3	MCM8	R	272	K	R272K	Likely benign	0	1	12	9
MUT:MCM8:Arg278Cys	PROT:Q9UJA3	MCM8	R	278	C	R278C	Likely benign	0	1	12	15
MUT:MCM8:Arg47His	PROT:Q9UJA3	MCM8	R	47	H	R47H	Likely benign	0	1	12	13
MUT:MCM8:Arg687Gln	PROT:Q9UJA3	MCM8	R	687	Q	R687Q	Benign	0	1	12	19
MUT:MCM8:His161Pro	PROT:Q9UJA3	MCM8	H	161	P	H161P	Likely pathogenic	1	2	12	49
MUT:MCM8:Ile138Met	PROT:Q9UJA3	MCM8	I	138	M	I138M	Benign/Likely benign	0	1	12	26
MUT:MCM8:Ile248Val	PROT:Q9UJA3	MCM8	I	248	V	I248V	Likely benign	0	1	12	15
MUT:MCM8:Pro149Arg	PROT:Q9UJA3	MCM8	P	149	R	P149R	Pathogenic	1	1	12	37
MUT:MCM8:Ser764Phe	PROT:Q9UJA3	MCM8	S	764	F	S764F	Likely benign	0	1	12	49
MUT:MCM8:Val134Ile	PROT:Q9UJA3	MCM8	V	134	I	V134I	Likely benign	0	1	12	22
MUT:MCM9:Arg1107His	PROT:Q9NXL9	MCM9	R	1107	H	R1107H	Likely benign	0	1	9	38
MUT:MCM9:Arg666Gln	PROT:Q9NXL9	MCM9	R	666	Q	R666Q	Likely benign	0	1	9	3
MUT:MCM9:Asn304Ser	PROT:Q9NXL9	MCM9	N	304	S	N304S	Likely benign	0	2	9	54
MUT:MCM9:Asp715Val	PROT:Q9NXL9	MCM9	D	715	V	D715V	Likely benign	0	1	9	52
MUT:MCM9:Cys558Ser	PROT:Q9NXL9	MCM9	C	558	S	C558S	Benign	0	1	9	105
MUT:MCM9:Gln5His	PROT:Q9NXL9	MCM9	Q	5	H	Q5H	Likely benign	0	1	9	74
MUT:MCM9:Glu507Asp	PROT:Q9NXL9	MCM9	E	507	D	E507D	Benign	0	3	9	140
MUT:MCM9:Glu816Asp	PROT:Q9NXL9	MCM9	E	816	D	E816D	Benign	0	1	9	14
MUT:MCM9:Gly1002Arg	PROT:Q9NXL9	MCM9	G	1002	R	G1002R	Likely benign	0	1	9	62
MUT:MCM9:Gly1048Ser	PROT:Q9NXL9	MCM9	G	1048	S	G1048S	Likely benign	0	1	9	16
MUT:MCM9:Ile797Thr	PROT:Q9NXL9	MCM9	I	797	T	I797T	Likely benign	0	1	9	5
MUT:MCM9:Met1096Val	PROT:Q9NXL9	MCM9	M	1096	V	M1096V	Likely benign	0	1	9	27
MUT:MCM9:Met60Val	PROT:Q9NXL9	MCM9	M	60	V	M60V	Likely benign	0	1	9	19
MUT:MCM9:Ser191Leu	PROT:Q9NXL9	MCM9	S	191	L	S191L	Likely benign	0	1	9	58
MUT:MCM9:Ser779Asn	PROT:Q9NXL9	MCM9	S	779	N	S779N	Likely benign	0	1	9	23
MUT:MCM9:Ser817Gly	PROT:Q9NXL9	MCM9	S	817	G	S817G	Likely benign	0	1	9	15
MUT:MCM9:Thr194Ala	PROT:Q9NXL9	MCM9	T	194	A	T194A	Likely benign	0	1	9	55
MUT:MCM9:Thr960Ala	PROT:Q9NXL9	MCM9	T	960	A	T960A	Likely benign	0	1	9	104
MUT:MCTP2:Ala60Thr	PROT:Q6DN12	MCTP2	A	60	T	A60T	Benign	0	1	21	9
MUT:MCTP2:Ala695Thr	PROT:Q6DN12	MCTP2	A	695	T	A695T	Benign	0	1	21	40
MUT:MCTP2:Ala877Thr	PROT:Q6DN12	MCTP2	A	877	T	A877T	Benign	0	1	21	8
MUT:MCTP2:Arg340His	PROT:Q6DN12	MCTP2	R	340	H	R340H	Benign	0	1	21	5
MUT:MCTP2:Arg39Gln	PROT:Q6DN12	MCTP2	R	39	Q	R39Q	Likely benign	0	4	21	12
MUT:MCTP2:Arg46His	PROT:Q6DN12	MCTP2	R	46	H	R46H	Likely benign	0	1	21	5
MUT:MCTP2:Gly148Glu	PROT:Q6DN12	MCTP2	G	148	E	G148E	Likely benign	0	1	21	3
MUT:MCTP2:Gly203Asp	PROT:Q6DN12	MCTP2	G	203	D	G203D	Likely benign	0	1	21	58
MUT:MCTP2:Ile810Thr	PROT:Q6DN12	MCTP2	I	810	T	I810T	Likely benign	0	1	21	46
MUT:MCTP2:Ile825Leu	PROT:Q6DN12	MCTP2	I	825	L	I825L	Benign	0	1	21	31
MUT:MCTP2:Leu864Pro	PROT:Q6DN12	MCTP2	L	864	P	L864P	Likely benign	0	2	21	3
MUT:MCTP2:Val774Ile	PROT:Q6DN12	MCTP2	V	774	I	V774I	Likely benign	0	1	21	35
MUT:MDC1:Arg842Ser	PROT:Q14676	MDC1	R	842	S	R842S	Benign	0	7	119	30
MUT:MDC1:Met1Leu	PROT:Q14676	MDC1	M	1	L	M1L	Pathogenic	1	1	119	3
MUT:MDFIC:Ala118Thr	PROT:Q9P1T7	MDFIC	A	118	T	A118T	Likely benign	0	1	1	10
MUT:MDFIC:Ile93Thr	PROT:Q9P1T7	MDFIC	I	93	T	I93T	Likely benign	0	1	1	35
MUT:ME1:Asn249Ser	PROT:P48163	ME1	N	249	S	N249S	Likely benign	0	1	22	41
MUT:MECP2:Ala129Gly	PROT:P51608	MECP2	A	129	G	A129G	Likely pathogenic	1	1	49	1
MUT:MECP2:Ala143Asp	PROT:P51608	MECP2	A	143	D	A143D	Pathogenic	1	1	49	5
MUT:MECP2:Ala152Val	PROT:P51608	MECP2	A	152	V	A152V	Pathogenic/Likely pathogenic	1	9	49	3
MUT:MECP2:Ala213Val	PROT:P51608	MECP2	A	213	V	A213V	Benign	0	3	49	3
MUT:MECP2:Ala214Gly	PROT:P51608	MECP2	A	214	G	A214G	Likely benign	0	3	49	2
MUT:MECP2:Ala214Val	PROT:P51608	MECP2	A	214	V	A214V	Benign/Likely benign	0	2	49	2
MUT:MECP2:Ala246Gly	PROT:P51608	MECP2	A	246	G	A246G	Benign	0	3	49	5
MUT:MECP2:Ala269Gly	PROT:P51608	MECP2	A	269	G	A269G	Benign	0	1	49	5
MUT:MECP2:Ala271Gly	PROT:P51608	MECP2	A	271	G	A271G	Likely benign	0	2	49	3
MUT:MECP2:Ala290Thr	PROT:P51608	MECP2	A	290	T	A290T	Likely benign	0	2	49	4
MUT:MECP2:Ala291Gly	PROT:P51608	MECP2	A	291	G	A291G	Benign	0	1	49	5
MUT:MECP2:Ala291Val	PROT:P51608	MECP2	A	291	V	A291V	Likely pathogenic	1	2	49	5
MUT:MECP2:Ala293Thr	PROT:P51608	MECP2	A	293	T	A293T	Benign	0	3	49	7
MUT:MECP2:Ala299Pro	PROT:P51608	MECP2	A	299	P	A299P	Likely benign	0	2	49	9
MUT:MECP2:Ala2Val	PROT:P51608	MECP2	A	2	V	A2V	Pathogenic/Likely pathogenic	1	2	49	11
MUT:MECP2:Ala370Thr	PROT:P51608	MECP2	A	370	T	A370T	Benign/Likely benign	0	3	49	10
MUT:MECP2:Ala390Gly	PROT:P51608	MECP2	A	390	G	A390G	Likely benign	0	3	49	5
MUT:MECP2:Ala390Ser	PROT:P51608	MECP2	A	390	S	A390S	Benign	0	3	49	5
MUT:MECP2:Ala390Thr	PROT:P51608	MECP2	A	390	T	A390T	Likely benign	0	2	49	5
MUT:MECP2:Ala390Val	PROT:P51608	MECP2	A	390	V	A390V	Benign	0	3	49	5
MUT:MECP2:Ala451Ser	PROT:P51608	MECP2	A	451	S	A451S	Benign	0	2	49	2
MUT:MECP2:Ala451Thr	PROT:P51608	MECP2	A	451	T	A451T	Benign/Likely benign	0	6	49	2
MUT:MECP2:Ala451Val	PROT:P51608	MECP2	A	451	V	A451V	Benign/Likely benign	0	2	49	2
MUT:MECP2:Ala455Thr	PROT:P51608	MECP2	A	455	T	A455T	Benign	0	5	49	6
MUT:MECP2:Ala455Val	PROT:P51608	MECP2	A	455	V	A455V	Likely benign	0	3	49	6
MUT:MECP2:Ala456Thr	PROT:P51608	MECP2	A	456	T	A456T	Benign/Likely benign	0	2	49	7
MUT:MECP2:Ala458Val	PROT:P51608	MECP2	A	458	V	A458V	Likely benign	0	1	49	9
MUT:MECP2:Ala459Thr	PROT:P51608	MECP2	A	459	T	A459T	Benign	0	3	49	10
MUT:MECP2:Ala459Val	PROT:P51608	MECP2	A	459	V	A459V	Benign	0	2	49	10
MUT:MECP2:Ala5Thr	PROT:P51608	MECP2	A	5	T	A5T	Benign	0	2	49	8
MUT:MECP2:Arg101Cys	PROT:P51608	MECP2	R	101	C	R101C	Benign	0	2	49	9
MUT:MECP2:Arg118Gln	PROT:P51608	MECP2	R	118	Q	R118Q	Pathogenic/Likely pathogenic	1	3	49	2
MUT:MECP2:Arg118Gly	PROT:P51608	MECP2	R	118	G	R118G	Likely pathogenic	1	2	49	2
MUT:MECP2:Arg118Leu	PROT:P51608	MECP2	R	118	L	R118L	Pathogenic/Likely pathogenic	1	1	49	2
MUT:MECP2:Arg118Trp	PROT:P51608	MECP2	R	118	W	R118W	Pathogenic/Likely pathogenic	1	5	49	2
MUT:MECP2:Arg123Gly	PROT:P51608	MECP2	R	123	G	R123G	Likely pathogenic	1	1	49	3
MUT:MECP2:Arg123Lys	PROT:P51608	MECP2	R	123	K	R123K	Likely pathogenic	1	1	49	3
MUT:MECP2:Arg123Thr	PROT:P51608	MECP2	R	123	T	R123T	Likely pathogenic	1	1	49	3
MUT:MECP2:Arg127His	PROT:P51608	MECP2	R	127	H	R127H	Pathogenic	1	2	49	3
MUT:MECP2:Arg145Cys	PROT:P51608	MECP2	R	145	C	R145C	Pathogenic	1	10	49	3
MUT:MECP2:Arg145Gly	PROT:P51608	MECP2	R	145	G	R145G	Likely pathogenic	1	1	49	3
MUT:MECP2:Arg145His	PROT:P51608	MECP2	R	145	H	R145H	Pathogenic	1	2	49	3
MUT:MECP2:Arg145Leu	PROT:P51608	MECP2	R	145	L	R145L	Pathogenic	1	1	49	3
MUT:MECP2:Arg145Pro	PROT:P51608	MECP2	R	145	P	R145P	Pathogenic/Likely pathogenic	1	1	49	3
MUT:MECP2:Arg174Gly	PROT:P51608	MECP2	R	174	G	R174G	Pathogenic	1	1	49	4
MUT:MECP2:Arg179Trp	PROT:P51608	MECP2	R	179	W	R179W	Pathogenic	1	4	49	1
MUT:MECP2:Arg180Gly	PROT:P51608	MECP2	R	180	G	R180G	Likely pathogenic	1	1	49	2
MUT:MECP2:Arg200Trp	PROT:P51608	MECP2	R	200	W	R200W	Benign	0	2	49	3
MUT:MECP2:Arg202His	PROT:P51608	MECP2	R	202	H	R202H	Likely pathogenic	1	1	49	1
MUT:MECP2:Arg223Ser	PROT:P51608	MECP2	R	223	S	R223S	Benign/Likely benign	0	3	49	0
MUT:MECP2:Arg262Cys	PROT:P51608	MECP2	R	262	C	R262C	Benign	0	3	49	12
MUT:MECP2:Arg262His	PROT:P51608	MECP2	R	262	H	R262H	Likely benign	0	4	49	12
MUT:MECP2:Arg267Gly	PROT:P51608	MECP2	R	267	G	R267G	Pathogenic/Likely pathogenic	1	1	49	7
MUT:MECP2:Arg267Pro	PROT:P51608	MECP2	R	267	P	R267P	Pathogenic	1	2	49	7
MUT:MECP2:Arg306Gln	PROT:P51608	MECP2	R	306	Q	R306Q	Likely benign	0	2	49	2
MUT:MECP2:Arg306Gly	PROT:P51608	MECP2	R	306	G	R306G	Likely benign	0	1	49	2
MUT:MECP2:Arg306Pro	PROT:P51608	MECP2	R	306	P	R306P	Likely benign	0	1	49	2
MUT:MECP2:Arg318Cys	PROT:P51608	MECP2	R	318	C	R318C	Pathogenic	1	7	49	3
MUT:MECP2:Arg318His	PROT:P51608	MECP2	R	318	H	R318H	Pathogenic/Likely pathogenic	1	3	49	3
MUT:MECP2:Arg318Leu	PROT:P51608	MECP2	R	318	L	R318L	Pathogenic/Likely pathogenic	1	1	49	3
MUT:MECP2:Arg318Pro	PROT:P51608	MECP2	R	318	P	R318P	Pathogenic/Likely pathogenic	1	1	49	3
MUT:MECP2:Arg321Gln	PROT:P51608	MECP2	R	321	Q	R321Q	Likely pathogenic	1	1	49	0
MUT:MECP2:Arg321Trp	PROT:P51608	MECP2	R	321	W	R321W	Pathogenic	1	7	49	0
MUT:MECP2:Arg356Trp	PROT:P51608	MECP2	R	356	W	R356W	Benign	0	3	49	1
MUT:MECP2:Arg366Cys	PROT:P51608	MECP2	R	366	C	R366C	Benign	0	3	49	6
MUT:MECP2:Arg366Leu	PROT:P51608	MECP2	R	366	L	R366L	Benign	0	3	49	6
MUT:MECP2:Arg465Gln	PROT:P51608	MECP2	R	465	Q	R465Q	Likely benign	0	3	49	14
MUT:MECP2:Arg470Cys	PROT:P51608	MECP2	R	470	C	R470C	Likely benign	0	2	49	9
MUT:MECP2:Arg470His	PROT:P51608	MECP2	R	470	H	R470H	Benign/Likely benign	0	3	49	9
MUT:MECP2:Arg480Thr	PROT:P51608	MECP2	R	480	T	R480T	Benign	0	1	49	1
MUT:MECP2:Arg490Gln	PROT:P51608	MECP2	R	490	Q	R490Q	Likely benign	0	2	49	4
MUT:MECP2:Arg496Thr	PROT:P51608	MECP2	R	496	T	R496T	Benign/Likely benign	0	3	49	10
MUT:MECP2:Asn138Ile	PROT:P51608	MECP2	N	138	I	N138I	Likely pathogenic	1	1	49	8
MUT:MECP2:Asp109Tyr	PROT:P51608	MECP2	D	109	Y	D109Y	Likely pathogenic	1	1	49	7
MUT:MECP2:Asp133Asn	PROT:P51608	MECP2	D	133	N	D133N	Likely pathogenic	1	1	49	3
MUT:MECP2:Asp133Gly	PROT:P51608	MECP2	D	133	G	D133G	Likely pathogenic	1	1	49	3
MUT:MECP2:Asp133His	PROT:P51608	MECP2	D	133	H	D133H	Likely pathogenic	1	1	49	3
MUT:MECP2:Asp133Val	PROT:P51608	MECP2	D	133	V	D133V	Likely pathogenic	1	1	49	3
MUT:MECP2:Asp163Ala	PROT:P51608	MECP2	D	163	A	D163A	Likely pathogenic	1	1	49	1
MUT:MECP2:Asp163Gly	PROT:P51608	MECP2	D	163	G	D163G	Likely pathogenic	1	2	49	1
MUT:MECP2:Asp163Tyr	PROT:P51608	MECP2	D	163	Y	D163Y	Likely pathogenic	1	1	49	1
MUT:MECP2:Asp168Ala	PROT:P51608	MECP2	D	168	A	D168A	Likely pathogenic	1	1	49	2
MUT:MECP2:Asp168Glu	PROT:P51608	MECP2	D	168	E	D168E	Pathogenic	1	2	49	2
MUT:MECP2:Asp168Gly	PROT:P51608	MECP2	D	168	G	D168G	Pathogenic	1	1	49	2
MUT:MECP2:Asp168Tyr	PROT:P51608	MECP2	D	168	Y	D168Y	Likely pathogenic	1	1	49	2
MUT:MECP2:Asp35Glu	PROT:P51608	MECP2	D	35	E	D35E	Likely benign	0	2	49	10
MUT:MECP2:Asp410Tyr	PROT:P51608	MECP2	D	410	Y	D410Y	Likely benign	0	1	49	9
MUT:MECP2:Asp419Asn	PROT:P51608	MECP2	D	419	N	D419N	Likely benign	0	2	49	4
MUT:MECP2:Asp439Asn	PROT:P51608	MECP2	D	439	N	D439N	Likely benign	0	1	49	4
MUT:MECP2:Asp472His	PROT:P51608	MECP2	D	472	H	D472H	Benign	0	1	49	7
MUT:MECP2:Gln140Lys	PROT:P51608	MECP2	Q	140	K	Q140K	Likely pathogenic	1	1	49	8
MUT:MECP2:Gln140Pro	PROT:P51608	MECP2	Q	140	P	Q140P	Pathogenic/Likely pathogenic	1	2	49	8
MUT:MECP2:Gln239His	PROT:P51608	MECP2	Q	239	H	Q239H	Benign/Likely benign	0	2	49	2
MUT:MECP2:Gln418Pro	PROT:P51608	MECP2	Q	418	P	Q418P	Likely benign	0	1	49	5
MUT:MECP2:Gln449Lys	PROT:P51608	MECP2	Q	449	K	Q449K	Likely benign	0	2	49	0
MUT:MECP2:Glu149Gln	PROT:P51608	MECP2	E	149	Q	E149Q	Likely pathogenic	1	1	49	0
MUT:MECP2:Glu149Gly	PROT:P51608	MECP2	E	149	G	E149G	Pathogenic/Likely pathogenic	1	2	49	0
MUT:MECP2:Glu19Lys	PROT:P51608	MECP2	E	19	K	E19K	Benign	0	3	49	6
MUT:MECP2:Glu294Gly	PROT:P51608	MECP2	E	294	G	E294G	Likely pathogenic	1	1	49	8
MUT:MECP2:Glu386Gln	PROT:P51608	MECP2	E	386	Q	E386Q	Likely benign	0	2	49	9
MUT:MECP2:Glu404Ala	PROT:P51608	MECP2	E	404	A	E404A	Likely benign	0	2	49	3
MUT:MECP2:Glu406Lys	PROT:P51608	MECP2	E	406	K	E406K	Benign	0	3	49	5
MUT:MECP2:Glu409Lys	PROT:P51608	MECP2	E	409	K	E409K	Benign	0	3	49	8
MUT:MECP2:Glu484Asp	PROT:P51608	MECP2	E	484	D	E484D	Benign	0	1	49	2
MUT:MECP2:Glu485Asp	PROT:P51608	MECP2	E	485	D	E485D	Benign	0	2	49	1
MUT:MECP2:Glu495Asp	PROT:P51608	MECP2	E	495	D	E495D	Benign/Likely benign	0	2	49	9
MUT:MECP2:Glu495Lys	PROT:P51608	MECP2	E	495	K	E495K	Benign	0	2	49	9
MUT:MECP2:Gly130Glu	PROT:P51608	MECP2	G	130	E	G130E	Pathogenic	1	1	49	0
MUT:MECP2:Gly141Val	PROT:P51608	MECP2	G	141	V	G141V	Likely pathogenic	1	1	49	7
MUT:MECP2:Gly173Glu	PROT:P51608	MECP2	G	173	E	G173E	Likely pathogenic	1	1	49	5
MUT:MECP2:Gly173Trp	PROT:P51608	MECP2	G	173	W	G173W	Likely pathogenic	1	1	49	5
MUT:MECP2:Gly173Val	PROT:P51608	MECP2	G	173	V	G173V	Likely pathogenic	1	2	49	5
MUT:MECP2:Gly195Arg	PROT:P51608	MECP2	G	195	R	G195R	Likely benign	0	2	49	8
MUT:MECP2:Gly207Ser	PROT:P51608	MECP2	G	207	S	G207S	Benign	0	1	49	3
MUT:MECP2:Gly218Ala	PROT:P51608	MECP2	G	218	A	G218A	Benign	0	4	49	2
MUT:MECP2:Gly243Arg	PROT:P51608	MECP2	G	243	R	G243R	Likely benign	0	4	49	2
MUT:MECP2:Gly244Ala	PROT:P51608	MECP2	G	244	A	G244A	Benign	0	3	49	3
MUT:MECP2:Gly32Ser	PROT:P51608	MECP2	G	32	S	G32S	Likely benign	0	1	49	7
MUT:MECP2:Gly341Ser	PROT:P51608	MECP2	G	341	S	G341S	Benign	0	3	49	0
MUT:MECP2:Gly434Asp	PROT:P51608	MECP2	G	434	D	G434D	Likely benign	0	1	49	1
MUT:MECP2:Gly440Ser	PROT:P51608	MECP2	G	440	S	G440S	Benign	0	3	49	5
MUT:MECP2:Gly72Asp	PROT:P51608	MECP2	G	72	D	G72D	Likely pathogenic	1	1	49	2
MUT:MECP2:Gly72Ser	PROT:P51608	MECP2	G	72	S	G72S	Pathogenic	1	1	49	2
MUT:MECP2:Gly7Glu	PROT:P51608	MECP2	G	7	E	G7E	Pathogenic	1	1	49	6
MUT:MECP2:His379Gln	PROT:P51608	MECP2	H	379	Q	H379Q	Benign	0	1	49	16
MUT:MECP2:His382Arg	PROT:P51608	MECP2	H	382	R	H382R	Likely benign	0	1	49	13
MUT:MECP2:His384Tyr	PROT:P51608	MECP2	H	384	Y	H384Y	Likely benign	0	2	49	11
MUT:MECP2:His64Arg	PROT:P51608	MECP2	H	64	R	H64R	Benign	0	3	49	6
MUT:MECP2:His64Gln	PROT:P51608	MECP2	H	64	Q	H64Q	Likely benign	0	1	49	6
MUT:MECP2:Ile305Met	PROT:P51608	MECP2	I	305	M	I305M	Benign	0	3	49	3
MUT:MECP2:Ile315Met	PROT:P51608	MECP2	I	315	M	I315M	Likely pathogenic	1	2	49	2
MUT:MECP2:Leu112Val	PROT:P51608	MECP2	L	112	V	L112V	Pathogenic	1	1	49	4
MUT:MECP2:Leu120His	PROT:P51608	MECP2	L	120	H	L120H	Likely pathogenic	1	1	49	0
MUT:MECP2:Leu120Pro	PROT:P51608	MECP2	L	120	P	L120P	Likely pathogenic	1	1	49	0
MUT:MECP2:Leu136Phe	PROT:P51608	MECP2	L	136	F	L136F	Pathogenic	1	2	49	6
MUT:MECP2:Leu136Trp	PROT:P51608	MECP2	L	136	W	L136W	Likely pathogenic	1	1	49	6
MUT:MECP2:Leu136Val	PROT:P51608	MECP2	L	136	V	L136V	Likely pathogenic	1	1	49	6
MUT:MECP2:Leu225Val	PROT:P51608	MECP2	L	225	V	L225V	Benign	0	2	49	2
MUT:MECP2:Leu340Val	PROT:P51608	MECP2	L	340	V	L340V	Likely benign	0	2	49	1
MUT:MECP2:Leu348Val	PROT:P51608	MECP2	L	348	V	L348V	Benign	0	1	49	1
MUT:MECP2:Leu395Phe	PROT:P51608	MECP2	L	395	F	L395F	Benign	0	3	49	0
MUT:MECP2:Leu398Pro	PROT:P51608	MECP2	L	398	P	L398P	Likely benign	0	1	49	3
MUT:MECP2:Lys142Arg	PROT:P51608	MECP2	K	142	R	K142R	Benign	0	1	49	6
MUT:MECP2:Lys147Asn	PROT:P51608	MECP2	K	147	N	K147N	Likely pathogenic	1	1	49	1
MUT:MECP2:Lys147Glu	PROT:P51608	MECP2	K	147	E	K147E	Pathogenic	1	2	49	1
MUT:MECP2:Lys316Arg	PROT:P51608	MECP2	K	316	R	K316R	Pathogenic	1	1	49	3
MUT:MECP2:Lys316Asn	PROT:P51608	MECP2	K	316	N	K316N	Pathogenic	1	2	49	3
MUT:MECP2:Lys316Gln	PROT:P51608	MECP2	K	316	Q	K316Q	Pathogenic/Likely pathogenic	1	1	49	3
MUT:MECP2:Lys316Glu	PROT:P51608	MECP2	K	316	E	K316E	Likely pathogenic	1	1	49	3
MUT:MECP2:Lys317Arg	PROT:P51608	MECP2	K	317	R	K317R	Pathogenic/Likely pathogenic	1	2	49	4
MUT:MECP2:Lys317Asn	PROT:P51608	MECP2	K	317	N	K317N	Likely pathogenic	1	2	49	4
MUT:MECP2:Lys317Glu	PROT:P51608	MECP2	K	317	E	K317E	Likely pathogenic	1	1	49	4
MUT:MECP2:Lys317Thr	PROT:P51608	MECP2	K	317	T	K317T	Likely pathogenic	1	1	49	4
MUT:MECP2:Lys319Asn	PROT:P51608	MECP2	K	319	N	K319N	Likely pathogenic	1	1	49	2
MUT:MECP2:Lys346Arg	PROT:P51608	MECP2	K	346	R	K346R	Benign	0	1	49	3
MUT:MECP2:Lys352Arg	PROT:P51608	MECP2	K	352	R	K352R	Likely benign	0	1	49	3
MUT:MECP2:Lys36Arg	PROT:P51608	MECP2	K	36	R	K36R	Benign	0	1	49	11
MUT:MECP2:Lys426Arg	PROT:P51608	MECP2	K	426	R	K426R	Benign	0	1	49	0
MUT:MECP2:Lys429Met	PROT:P51608	MECP2	K	429	M	K429M	Benign	0	2	49	3
MUT:MECP2:Lys443Gln	PROT:P51608	MECP2	K	443	Q	K443Q	Benign/Likely benign	0	1	49	6
MUT:MECP2:Lys471Thr	PROT:P51608	MECP2	K	471	T	K471T	Likely benign	0	1	49	8
MUT:MECP2:Lys47Glu	PROT:P51608	MECP2	K	47	E	K47E	Benign	0	1	49	22
MUT:MECP2:Lys94Arg	PROT:P51608	MECP2	K	94	R	K94R	Benign/Likely benign	0	2	49	2
MUT:MECP2:Met1Ile	PROT:P51608	MECP2	M	1	I	M1I	Pathogenic	1	1	49	12
MUT:MECP2:Met1Leu	PROT:P51608	MECP2	M	1	L	M1L	Likely pathogenic	1	1	49	12
MUT:MECP2:Met1Val	PROT:P51608	MECP2	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	49	12
MUT:MECP2:Met430Thr	PROT:P51608	MECP2	M	430	T	M430T	Benign	0	2	49	4
MUT:MECP2:Phe167Cys	PROT:P51608	MECP2	F	167	C	F167C	Likely pathogenic	1	1	49	1
MUT:MECP2:Phe167Ile	PROT:P51608	MECP2	F	167	I	F167I	Likely pathogenic	1	1	49	1
MUT:MECP2:Phe167Ser	PROT:P51608	MECP2	F	167	S	F167S	Likely pathogenic	1	1	49	1
MUT:MECP2:Phe169Cys	PROT:P51608	MECP2	F	169	C	F169C	Likely pathogenic	1	1	49	3
MUT:MECP2:Phe169Ile	PROT:P51608	MECP2	F	169	I	F169I	Likely pathogenic	1	2	49	3
MUT:MECP2:Phe169Leu	PROT:P51608	MECP2	F	169	L	F169L	Pathogenic	1	2	49	3
MUT:MECP2:Pro113Arg	PROT:P51608	MECP2	P	113	R	P113R	Pathogenic	1	3	49	3
MUT:MECP2:Pro113His	PROT:P51608	MECP2	P	113	H	P113H	Likely pathogenic	1	1	49	3
MUT:MECP2:Pro113Leu	PROT:P51608	MECP2	P	113	L	P113L	Likely pathogenic	1	1	49	3
MUT:MECP2:Pro113Ser	PROT:P51608	MECP2	P	113	S	P113S	Pathogenic	1	1	49	3
MUT:MECP2:Pro139Leu	PROT:P51608	MECP2	P	139	L	P139L	Pathogenic	1	2	49	9
MUT:MECP2:Pro164Ala	PROT:P51608	MECP2	P	164	A	P164A	Likely pathogenic	1	5	49	0
MUT:MECP2:Pro164Arg	PROT:P51608	MECP2	P	164	R	P164R	Pathogenic	1	4	49	0
MUT:MECP2:Pro164Leu	PROT:P51608	MECP2	P	164	L	P164L	Pathogenic/Likely pathogenic	1	1	49	0
MUT:MECP2:Pro164Thr	PROT:P51608	MECP2	P	164	T	P164T	Likely pathogenic	1	2	49	0
MUT:MECP2:Pro184Leu	PROT:P51608	MECP2	P	184	L	P184L	Benign	0	3	49	0
MUT:MECP2:Pro185Ala	PROT:P51608	MECP2	P	185	A	P185A	Likely benign	0	3	49	1
MUT:MECP2:Pro185Arg	PROT:P51608	MECP2	P	185	R	P185R	Likely benign	0	3	49	1
MUT:MECP2:Pro188Ala	PROT:P51608	MECP2	P	188	A	P188A	Likely benign	0	1	49	4
MUT:MECP2:Pro188Arg	PROT:P51608	MECP2	P	188	R	P188R	Benign/Likely benign	0	3	49	4
MUT:MECP2:Pro188His	PROT:P51608	MECP2	P	188	H	P188H	Likely benign	0	2	49	4
MUT:MECP2:Pro211Arg	PROT:P51608	MECP2	P	211	R	P211R	Likely benign	0	2	49	5
MUT:MECP2:Pro211His	PROT:P51608	MECP2	P	211	H	P211H	Benign	0	4	49	5
MUT:MECP2:Pro211Leu	PROT:P51608	MECP2	P	211	L	P211L	Likely benign	0	1	49	5
MUT:MECP2:Pro211Ser	PROT:P51608	MECP2	P	211	S	P211S	Benign	0	3	49	5
MUT:MECP2:Pro229Leu	PROT:P51608	MECP2	P	229	L	P229L	Likely pathogenic	1	2	49	0
MUT:MECP2:Pro237Arg	PROT:P51608	MECP2	P	237	R	P237R	Pathogenic	1	5	49	4
MUT:MECP2:Pro237Leu	PROT:P51608	MECP2	P	237	L	P237L	Likely pathogenic	1	3	49	4
MUT:MECP2:Pro237Thr	PROT:P51608	MECP2	P	237	T	P237T	Pathogenic/Likely pathogenic	1	1	49	4
MUT:MECP2:Pro263Leu	PROT:P51608	MECP2	P	263	L	P263L	Likely benign	0	1	49	11
MUT:MECP2:Pro284Leu	PROT:P51608	MECP2	P	284	L	P284L	Benign/Likely benign	0	2	49	1
MUT:MECP2:Pro314Ala	PROT:P51608	MECP2	P	314	A	P314A	Pathogenic	1	2	49	1
MUT:MECP2:Pro314Arg	PROT:P51608	MECP2	P	314	R	P314R	Pathogenic/Likely pathogenic	1	2	49	1
MUT:MECP2:Pro314His	PROT:P51608	MECP2	P	314	H	P314H	Pathogenic	1	2	49	1
MUT:MECP2:Pro314Leu	PROT:P51608	MECP2	P	314	L	P314L	Pathogenic	1	2	49	1
MUT:MECP2:Pro314Ser	PROT:P51608	MECP2	P	314	S	P314S	Pathogenic/Likely pathogenic	1	2	49	1
MUT:MECP2:Pro314Thr	PROT:P51608	MECP2	P	314	T	P314T	Likely pathogenic	1	1	49	1
MUT:MECP2:Pro334Ala	PROT:P51608	MECP2	P	334	A	P334A	Pathogenic/Likely pathogenic	1	2	49	2
MUT:MECP2:Pro334Leu	PROT:P51608	MECP2	P	334	L	P334L	Pathogenic	1	2	49	2
MUT:MECP2:Pro354Thr	PROT:P51608	MECP2	P	354	T	P354T	Likely benign	0	1	49	3
MUT:MECP2:Pro373Ala	PROT:P51608	MECP2	P	373	A	P373A	Benign	0	3	49	13
MUT:MECP2:Pro373Leu	PROT:P51608	MECP2	P	373	L	P373L	Likely benign	0	1	49	13
MUT:MECP2:Pro373Ser	PROT:P51608	MECP2	P	373	S	P373S	Likely benign	0	2	49	13
MUT:MECP2:Pro374Ala	PROT:P51608	MECP2	P	374	A	P374A	Benign	0	1	49	14
MUT:MECP2:Pro374Leu	PROT:P51608	MECP2	P	374	L	P374L	Likely benign	0	1	49	14
MUT:MECP2:Pro374Ser	PROT:P51608	MECP2	P	374	S	P374S	Likely benign	0	3	49	14
MUT:MECP2:Pro388Ser	PROT:P51608	MECP2	P	388	S	P388S	Benign	0	2	49	7
MUT:MECP2:Pro391Ser	PROT:P51608	MECP2	P	391	S	P391S	Benign	0	3	49	4
MUT:MECP2:Pro393Ser	PROT:P51608	MECP2	P	393	S	P393S	Likely benign	0	3	49	2
MUT:MECP2:Pro396Leu	PROT:P51608	MECP2	P	396	L	P396L	Benign	0	4	49	1
MUT:MECP2:Pro396Ser	PROT:P51608	MECP2	P	396	S	P396S	Benign	0	2	49	1
MUT:MECP2:Pro397His	PROT:P51608	MECP2	P	397	H	P397H	Likely benign	0	2	49	2
MUT:MECP2:Pro397Leu	PROT:P51608	MECP2	P	397	L	P397L	Likely benign	0	1	49	2
MUT:MECP2:Pro397Ser	PROT:P51608	MECP2	P	397	S	P397S	Likely benign	0	2	49	2
MUT:MECP2:Pro397Thr	PROT:P51608	MECP2	P	397	T	P397T	Likely benign	0	1	49	2
MUT:MECP2:Pro399Leu	PROT:P51608	MECP2	P	399	L	P399L	Benign	0	4	49	2
MUT:MECP2:Pro400Ala	PROT:P51608	MECP2	P	400	A	P400A	Benign/Likely benign	0	3	49	1
MUT:MECP2:Pro400Leu	PROT:P51608	MECP2	P	400	L	P400L	Benign	0	3	49	1
MUT:MECP2:Pro400Ser	PROT:P51608	MECP2	P	400	S	P400S	Benign	0	4	49	1
MUT:MECP2:Pro402Ser	PROT:P51608	MECP2	P	402	S	P402S	Likely benign	0	1	49	1
MUT:MECP2:Pro403Ala	PROT:P51608	MECP2	P	403	A	P403A	Likely benign	0	2	49	2
MUT:MECP2:Pro405Leu	PROT:P51608	MECP2	P	405	L	P405L	Likely benign	0	2	49	4
MUT:MECP2:Pro411Leu	PROT:P51608	MECP2	P	411	L	P411L	Benign/Likely benign	0	3	49	10
MUT:MECP2:Pro411Ser	PROT:P51608	MECP2	P	411	S	P411S	Likely benign	0	3	49	10
MUT:MECP2:Pro414His	PROT:P51608	MECP2	P	414	H	P414H	Likely benign	0	1	49	9
MUT:MECP2:Pro414Leu	PROT:P51608	MECP2	P	414	L	P414L	Benign	0	3	49	9
MUT:MECP2:Pro414Ser	PROT:P51608	MECP2	P	414	S	P414S	Benign/Likely benign	0	1	49	9
MUT:MECP2:Pro414Thr	PROT:P51608	MECP2	P	414	T	P414T	Benign	0	2	49	9
MUT:MECP2:Pro415Arg	PROT:P51608	MECP2	P	415	R	P415R	Likely benign	0	1	49	8
MUT:MECP2:Pro415Leu	PROT:P51608	MECP2	P	415	L	P415L	Likely benign	0	3	49	8
MUT:MECP2:Pro417Leu	PROT:P51608	MECP2	P	417	L	P417L	Benign	0	4	49	6
MUT:MECP2:Pro417Ser	PROT:P51608	MECP2	P	417	S	P417S	Likely benign	0	1	49	6
MUT:MECP2:Pro431Leu	PROT:P51608	MECP2	P	431	L	P431L	Benign	0	3	49	4
MUT:MECP2:Pro431Ser	PROT:P51608	MECP2	P	431	S	P431S	Benign	0	3	49	4
MUT:MECP2:Pro442Ser	PROT:P51608	MECP2	P	442	S	P442S	Benign	0	2	49	7
MUT:MECP2:Pro492Ser	PROT:P51608	MECP2	P	492	S	P492S	Benign	0	2	49	6
MUT:MECP2:Pro84Leu	PROT:P51608	MECP2	P	84	L	P84L	Likely benign	0	2	49	2
MUT:MECP2:Pro87Leu	PROT:P51608	MECP2	P	87	L	P87L	Benign	0	3	49	1
MUT:MECP2:Ser146Cys	PROT:P51608	MECP2	S	146	C	S146C	Pathogenic/Likely pathogenic	1	3	49	2
MUT:MECP2:Ser146Phe	PROT:P51608	MECP2	S	146	F	S146F	Pathogenic	1	1	49	2
MUT:MECP2:Ser146Pro	PROT:P51608	MECP2	S	146	P	S146P	Likely pathogenic	1	1	49	2
MUT:MECP2:Ser190Cys	PROT:P51608	MECP2	S	190	C	S190C	Likely benign	0	3	49	6
MUT:MECP2:Ser216Leu	PROT:P51608	MECP2	S	216	L	S216L	Likely benign	0	1	49	0
MUT:MECP2:Ser228Gly	PROT:P51608	MECP2	S	228	G	S228G	Benign	0	2	49	0
MUT:MECP2:Ser241Leu	PROT:P51608	MECP2	S	241	L	S241L	Benign/Likely benign	0	3	49	0
MUT:MECP2:Ser338Tyr	PROT:P51608	MECP2	S	338	Y	S338Y	Benign	0	1	49	3
MUT:MECP2:Ser353Asn	PROT:P51608	MECP2	S	353	N	S353N	Likely benign	0	1	49	4
MUT:MECP2:Ser368Gly	PROT:P51608	MECP2	S	368	G	S368G	Benign	0	1	49	8
MUT:MECP2:Ser371Pro	PROT:P51608	MECP2	S	371	P	S371P	Benign/Likely benign	0	3	49	11
MUT:MECP2:Ser408Phe	PROT:P51608	MECP2	S	408	F	S408F	Likely benign	0	2	49	7
MUT:MECP2:Ser435Pro	PROT:P51608	MECP2	S	435	P	S435P	Benign/Likely benign	0	1	49	0
MUT:MECP2:Ser476Phe	PROT:P51608	MECP2	S	476	F	S476F	Likely benign	0	1	49	3
MUT:MECP2:Ser489Thr	PROT:P51608	MECP2	S	489	T	S489T	Likely benign	0	2	49	3
MUT:MECP2:Ser77Leu	PROT:P51608	MECP2	S	77	L	S77L	Pathogenic	1	1	49	1
MUT:MECP2:Thr160Ala	PROT:P51608	MECP2	T	160	A	T160A	Likely benign	0	2	49	0
MUT:MECP2:Thr170Ala	PROT:P51608	MECP2	T	170	A	T170A	Pathogenic	1	2	49	4
MUT:MECP2:Thr170Arg	PROT:P51608	MECP2	T	170	R	T170R	Likely pathogenic	1	2	49	4
MUT:MECP2:Thr170Lys	PROT:P51608	MECP2	T	170	K	T170K	Likely pathogenic	1	2	49	4
MUT:MECP2:Thr170Met	PROT:P51608	MECP2	T	170	M	T170M	Pathogenic/Likely pathogenic	1	9	49	4
MUT:MECP2:Thr208Ser	PROT:P51608	MECP2	T	208	S	T208S	Benign/Likely benign	0	4	49	4
MUT:MECP2:Thr209Arg	PROT:P51608	MECP2	T	209	R	T209R	Likely benign	0	1	49	5
MUT:MECP2:Thr209Met	PROT:P51608	MECP2	T	209	M	T209M	Benign/Likely benign	0	4	49	5
MUT:MECP2:Thr215Met	PROT:P51608	MECP2	T	215	M	T215M	Benign	0	3	49	1
MUT:MECP2:Thr240Ser	PROT:P51608	MECP2	T	240	S	T240S	Benign	0	5	49	1
MUT:MECP2:Thr323Ala	PROT:P51608	MECP2	T	323	A	T323A	Likely benign	0	1	49	2
MUT:MECP2:Thr323Met	PROT:P51608	MECP2	T	323	M	T323M	Benign	0	4	49	2
MUT:MECP2:Thr412Ile	PROT:P51608	MECP2	T	412	I	T412I	Likely benign	0	1	49	11
MUT:MECP2:Thr491Met	PROT:P51608	MECP2	T	491	M	T491M	Likely benign	0	1	49	5
MUT:MECP2:Trp116Cys	PROT:P51608	MECP2	W	116	C	W116C	Likely pathogenic	1	1	49	0
MUT:MECP2:Tyr153Cys	PROT:P51608	MECP2	Y	153	C	Y153C	Pathogenic	1	2	49	4
MUT:MECP2:Val134Met	PROT:P51608	MECP2	V	134	M	V134M	Pathogenic	1	1	49	4
MUT:MECP2:Val224Phe	PROT:P51608	MECP2	V	224	F	V224F	Likely benign	0	1	49	1
MUT:MECP2:Val287Ala	PROT:P51608	MECP2	V	287	A	V287A	Benign	0	3	49	1
MUT:MECP2:Val300Met	PROT:P51608	MECP2	V	300	M	V300M	Benign/Likely benign	0	4	49	8
MUT:MECP2:Val392Met	PROT:P51608	MECP2	V	392	M	V392M	Benign	0	4	49	3
MUT:MECP2:Val424Ile	PROT:P51608	MECP2	V	424	I	V424I	Benign/Likely benign	0	2	49	1
MUT:MECP2:Val424Phe	PROT:P51608	MECP2	V	424	F	V424F	Benign	0	2	49	1
MUT:MECP2:Val493Met	PROT:P51608	MECP2	V	493	M	V493M	Likely benign	0	3	49	7
MUT:MECP2:Val497Leu	PROT:P51608	MECP2	V	497	L	V497L	Likely benign	0	1	49	11
MUT:MECP2:Val58Leu	PROT:P51608	MECP2	V	58	L	V58L	Likely benign	0	1	49	12
MUT:MECP2:Val58Met	PROT:P51608	MECP2	V	58	M	V58M	Benign/Likely benign	0	2	49	12
MUT:MED12L:Ala1787Thr	PROT:Q86YW9	MED12L	A	1787	T	A1787T	Likely benign	0	1	25	64
MUT:MED12L:Ala391Thr	PROT:Q86YW9	MED12L	A	391	T	A391T	Likely benign	0	1	25	55
MUT:MED12L:Arg1245Gln	PROT:Q86YW9	MED12L	R	1245	Q	R1245Q	Benign	0	1	25	45
MUT:MED12L:Arg1443Cys	PROT:Q86YW9	MED12L	R	1443	C	R1443C	Likely benign	0	1	25	12
MUT:MED12L:Arg2092Gln	PROT:Q86YW9	MED12L	R	2092	Q	R2092Q	Likely benign	0	1	25	241
MUT:MED12L:Arg636Trp	PROT:Q86YW9	MED12L	R	636	W	R636W	Likely benign	0	2	25	1
MUT:MED12L:Asn1041Ser	PROT:Q86YW9	MED12L	N	1041	S	N1041S	Likely benign	0	1	25	43
MUT:MED12L:Asn1228Ser	PROT:Q86YW9	MED12L	N	1228	S	N1228S	Likely benign	0	1	25	28
MUT:MED12L:Asn843Ser	PROT:Q86YW9	MED12L	N	843	S	N843S	Likely benign	0	1	25	72
MUT:MED12L:Asp1791Gly	PROT:Q86YW9	MED12L	D	1791	G	D1791G	Likely benign	0	1	25	60
MUT:MED12L:Cys1177Ser	PROT:Q86YW9	MED12L	C	1177	S	C1177S	Likely benign	0	1	25	23
MUT:MED12L:Glu222Asp	PROT:Q86YW9	MED12L	E	222	D	E222D	Likely benign	0	1	25	140
MUT:MED12L:Gly1941Asp	PROT:Q86YW9	MED12L	G	1941	D	G1941D	Likely benign	0	1	25	90
MUT:MED12L:Ile1285Val	PROT:Q86YW9	MED12L	I	1285	V	I1285V	Likely benign	0	1	25	13
MUT:MED12L:Leu1505Val	PROT:Q86YW9	MED12L	L	1505	V	L1505V	Likely benign	0	1	25	5
MUT:MED12L:Leu1582Phe	PROT:Q86YW9	MED12L	L	1582	F	L1582F	Likely benign	0	1	25	72
MUT:MED12L:Leu2098Phe	PROT:Q86YW9	MED12L	L	2098	F	L2098F	Likely benign	0	1	25	247
MUT:MED12L:Leu922Phe	PROT:Q86YW9	MED12L	L	922	F	L922F	Likely benign	0	1	25	0
MUT:MED12L:Lys1261Gln	PROT:Q86YW9	MED12L	K	1261	Q	K1261Q	Likely benign	0	1	25	37
MUT:MED12L:Met1494Ile	PROT:Q86YW9	MED12L	M	1494	I	M1494I	Pathogenic	1	1	25	16
MUT:MED12L:Pro1828Ala	PROT:Q86YW9	MED12L	P	1828	A	P1828A	Likely benign	0	1	25	23
MUT:MED12L:Pro275Gln	PROT:Q86YW9	MED12L	P	275	Q	P275Q	Likely benign	0	1	25	171
MUT:MED12L:Pro695Ala	PROT:Q86YW9	MED12L	P	695	A	P695A	Likely benign	0	1	25	17
MUT:MED12L:Pro695Ser	PROT:Q86YW9	MED12L	P	695	S	P695S	Likely benign	0	1	25	17
MUT:MED12L:Ser1411Phe	PROT:Q86YW9	MED12L	S	1411	F	S1411F	Likely benign	0	1	25	20
MUT:MED12L:Ser1989Leu	PROT:Q86YW9	MED12L	S	1989	L	S1989L	Likely benign	0	1	25	138
MUT:MED12L:Thr1883Ala	PROT:Q86YW9	MED12L	T	1883	A	T1883A	Likely benign	0	1	25	32
MUT:MED12L:Tyr1634His	PROT:Q86YW9	MED12L	Y	1634	H	Y1634H	Likely benign	0	1	25	26
MUT:MED12L:Val1852Met	PROT:Q86YW9	MED12L	V	1852	M	V1852M	Likely benign	0	1	25	1
MUT:MED12L:Val2015Met	PROT:Q86YW9	MED12L	V	2015	M	V2015M	Likely benign	0	1	25	164
MUT:MED12L:Val454Gly	PROT:Q86YW9	MED12L	V	454	G	V454G	Likely benign	0	1	25	8
MUT:MED13L:Ala1027Thr	PROT:Q71F56	MED13L	A	1027	T	A1027T	Likely benign	0	1	34	23
MUT:MED13L:Ala1196Thr	PROT:Q71F56	MED13L	A	1196	T	A1196T	Benign	0	1	34	97
MUT:MED13L:Ala1197Val	PROT:Q71F56	MED13L	A	1197	V	A1197V	Benign	0	1	34	96
MUT:MED13L:Ala1472Val	PROT:Q71F56	MED13L	A	1472	V	A1472V	Likely benign	0	1	34	2
MUT:MED13L:Ala1536Val	PROT:Q71F56	MED13L	A	1536	V	A1536V	Benign	0	2	34	34
MUT:MED13L:Ala1554Thr	PROT:Q71F56	MED13L	A	1554	T	A1554T	Benign	0	1	34	52
MUT:MED13L:Ala1623Val	PROT:Q71F56	MED13L	A	1623	V	A1623V	Likely benign	0	1	34	121
MUT:MED13L:Ala205Val	PROT:Q71F56	MED13L	A	205	V	A205V	Benign	0	1	34	193
MUT:MED13L:Ala530Val	PROT:Q71F56	MED13L	A	530	V	A530V	Benign/Likely benign	0	1	34	9
MUT:MED13L:Ala616Gly	PROT:Q71F56	MED13L	A	616	G	A616G	Likely benign	0	1	34	41
MUT:MED13L:Ala894Val	PROT:Q71F56	MED13L	A	894	V	A894V	Likely benign	0	1	34	16
MUT:MED13L:Arg1045Cys	PROT:Q71F56	MED13L	R	1045	C	R1045C	Likely benign	0	1	34	5
MUT:MED13L:Arg1199Gly	PROT:Q71F56	MED13L	R	1199	G	R1199G	Likely benign	0	1	34	94
MUT:MED13L:Arg1200Cys	PROT:Q71F56	MED13L	R	1200	C	R1200C	Benign	0	1	34	93
MUT:MED13L:Arg1251Cys	PROT:Q71F56	MED13L	R	1251	C	R1251C	Likely benign	0	1	34	42
MUT:MED13L:Arg1251His	PROT:Q71F56	MED13L	R	1251	H	R1251H	Benign/Likely benign	0	2	34	42
MUT:MED13L:Arg1325Cys	PROT:Q71F56	MED13L	R	1325	C	R1325C	Likely benign	0	1	34	32
MUT:MED13L:Arg1406Lys	PROT:Q71F56	MED13L	R	1406	K	R1406K	Likely benign	0	1	34	68
MUT:MED13L:Arg1461His	PROT:Q71F56	MED13L	R	1461	H	R1461H	Likely benign	0	1	34	13
MUT:MED13L:Arg1466Cys	PROT:Q71F56	MED13L	R	1466	C	R1466C	Benign/Likely benign	0	2	34	8
MUT:MED13L:Arg1466Gly	PROT:Q71F56	MED13L	R	1466	G	R1466G	Likely benign	0	1	34	8
MUT:MED13L:Arg1507Cys	PROT:Q71F56	MED13L	R	1507	C	R1507C	Likely benign	0	1	34	5
MUT:MED13L:Arg1507His	PROT:Q71F56	MED13L	R	1507	H	R1507H	Benign	0	1	34	5
MUT:MED13L:Arg1789Trp	PROT:Q71F56	MED13L	R	1789	W	R1789W	Likely benign	0	1	34	19
MUT:MED13L:Arg1865Gln	PROT:Q71F56	MED13L	R	1865	Q	R1865Q	Likely benign	0	2	34	57
MUT:MED13L:Arg1903His	PROT:Q71F56	MED13L	R	1903	H	R1903H	Benign	0	1	34	95
MUT:MED13L:Arg1933Gln	PROT:Q71F56	MED13L	R	1933	Q	R1933Q	Likely benign	0	1	34	125
MUT:MED13L:Arg364Lys	PROT:Q71F56	MED13L	R	364	K	R364K	Likely benign	0	1	34	34
MUT:MED13L:Arg433Cys	PROT:Q71F56	MED13L	R	433	C	R433C	Likely benign	0	1	34	35
MUT:MED13L:Arg440Gln	PROT:Q71F56	MED13L	R	440	Q	R440Q	Likely benign	0	1	34	42
MUT:MED13L:Arg534Ile	PROT:Q71F56	MED13L	R	534	I	R534I	Benign/Likely benign	0	1	34	13
MUT:MED13L:Arg637His	PROT:Q71F56	MED13L	R	637	H	R637H	Benign/Likely benign	0	3	34	62
MUT:MED13L:Arg679Gln	PROT:Q71F56	MED13L	R	679	Q	R679Q	Likely benign	0	1	34	68
MUT:MED13L:Arg679Trp	PROT:Q71F56	MED13L	R	679	W	R679W	Likely benign	0	1	34	68
MUT:MED13L:Arg784Gln	PROT:Q71F56	MED13L	R	784	Q	R784Q	Benign/Likely benign	0	1	34	7
MUT:MED13L:Arg830Cys	PROT:Q71F56	MED13L	R	830	C	R830C	Benign/Likely benign	0	1	34	4
MUT:MED13L:Arg830His	PROT:Q71F56	MED13L	R	830	H	R830H	Likely benign	0	1	34	4
MUT:MED13L:Asn1032Ser	PROT:Q71F56	MED13L	N	1032	S	N1032S	Likely benign	0	1	34	18
MUT:MED13L:Asn1175Asp	PROT:Q71F56	MED13L	N	1175	D	N1175D	Likely benign	0	1	34	94
MUT:MED13L:Asn1250Ser	PROT:Q71F56	MED13L	N	1250	S	N1250S	Likely benign	0	1	34	43
MUT:MED13L:Asn1268Asp	PROT:Q71F56	MED13L	N	1268	D	N1268D	Likely benign	0	1	34	25
MUT:MED13L:Asn1495Ser	PROT:Q71F56	MED13L	N	1495	S	N1495S	Likely benign	0	2	34	7
MUT:MED13L:Asn1544Ser	PROT:Q71F56	MED13L	N	1544	S	N1544S	Benign	0	1	34	42
MUT:MED13L:Asn1567Asp	PROT:Q71F56	MED13L	N	1567	D	N1567D	Likely benign	0	1	34	65
MUT:MED13L:Asn2182Ser	PROT:Q71F56	MED13L	N	2182	S	N2182S	Benign	0	1	34	22
MUT:MED13L:Asn36Ser	PROT:Q71F56	MED13L	N	36	S	N36S	Benign/Likely benign	0	1	34	362
MUT:MED13L:Asn408Ser	PROT:Q71F56	MED13L	N	408	S	N408S	Benign/Likely benign	0	1	34	10
MUT:MED13L:Asn439Ser	PROT:Q71F56	MED13L	N	439	S	N439S	Likely benign	0	2	34	41
MUT:MED13L:Asn93Asp	PROT:Q71F56	MED13L	N	93	D	N93D	Benign	0	1	34	305
MUT:MED13L:Asn93Ser	PROT:Q71F56	MED13L	N	93	S	N93S	Likely benign	0	1	34	305
MUT:MED13L:Asp1267Glu	PROT:Q71F56	MED13L	D	1267	E	D1267E	Likely benign	0	1	34	26
MUT:MED13L:Asp1712Asn	PROT:Q71F56	MED13L	D	1712	N	D1712N	Likely benign	0	1	34	58
MUT:MED13L:Asp642His	PROT:Q71F56	MED13L	D	642	H	D642H	Benign/Likely benign	0	1	34	67
MUT:MED13L:Asp657Asn	PROT:Q71F56	MED13L	D	657	N	D657N	Likely benign	0	2	34	82
MUT:MED13L:Asp740Glu	PROT:Q71F56	MED13L	D	740	E	D740E	Likely benign	0	1	34	7
MUT:MED13L:Asp79His	PROT:Q71F56	MED13L	D	79	H	D79H	Likely benign	0	1	34	319
MUT:MED13L:Asp818Asn	PROT:Q71F56	MED13L	D	818	N	D818N	Likely benign	0	1	34	8
MUT:MED13L:Asp860Gly	PROT:Q71F56	MED13L	D	860	G	D860G	Pathogenic/Likely pathogenic	1	2	34	7
MUT:MED13L:Cys1162Arg	PROT:Q71F56	MED13L	C	1162	R	C1162R	Likely pathogenic	1	1	34	81
MUT:MED13L:Gln1232Lys	PROT:Q71F56	MED13L	Q	1232	K	Q1232K	Likely benign	0	1	34	61
MUT:MED13L:Gln1644His	PROT:Q71F56	MED13L	Q	1644	H	Q1644H	Likely benign	0	1	34	126
MUT:MED13L:Gln1877Arg	PROT:Q71F56	MED13L	Q	1877	R	Q1877R	Likely benign	0	1	34	69
MUT:MED13L:Gln289His	PROT:Q71F56	MED13L	Q	289	H	Q289H	Likely benign	0	1	34	109
MUT:MED13L:Gln539His	PROT:Q71F56	MED13L	Q	539	H	Q539H	Likely benign	0	1	34	8
MUT:MED13L:Glu1426Gly	PROT:Q71F56	MED13L	E	1426	G	E1426G	Benign	0	1	34	48
MUT:MED13L:Glu151Lys	PROT:Q71F56	MED13L	E	151	K	E151K	Benign/Likely benign	0	1	34	247
MUT:MED13L:Glu1908Gln	PROT:Q71F56	MED13L	E	1908	Q	E1908Q	Likely pathogenic	1	1	34	100
MUT:MED13L:Glu332Gly	PROT:Q71F56	MED13L	E	332	G	E332G	Likely pathogenic	1	1	34	66
MUT:MED13L:Glu495Lys	PROT:Q71F56	MED13L	E	495	K	E495K	Likely benign	0	1	34	3
MUT:MED13L:Gly113Val	PROT:Q71F56	MED13L	G	113	V	G113V	Likely pathogenic	1	1	34	285
MUT:MED13L:Gly1142Glu	PROT:Q71F56	MED13L	G	1142	E	G1142E	Likely pathogenic	1	1	34	61
MUT:MED13L:Gly1163Arg	PROT:Q71F56	MED13L	G	1163	R	G1163R	Likely pathogenic	1	1	34	82
MUT:MED13L:Gly1606Val	PROT:Q71F56	MED13L	G	1606	V	G1606V	Likely benign	0	1	34	104
MUT:MED13L:Gly1899Arg	PROT:Q71F56	MED13L	G	1899	R	G1899R	Likely pathogenic	1	1	34	91
MUT:MED13L:Gly355Glu	PROT:Q71F56	MED13L	G	355	E	G355E	Likely benign	0	1	34	43
MUT:MED13L:His1309Tyr	PROT:Q71F56	MED13L	H	1309	Y	H1309Y	Likely benign	0	1	34	16
MUT:MED13L:His1453Pro	PROT:Q71F56	MED13L	H	1453	P	H1453P	Likely pathogenic	1	1	34	21
MUT:MED13L:His1508Tyr	PROT:Q71F56	MED13L	H	1508	Y	H1508Y	Benign/Likely benign	0	1	34	6
MUT:MED13L:His1509Tyr	PROT:Q71F56	MED13L	H	1509	Y	H1509Y	Benign/Likely benign	0	1	34	7
MUT:MED13L:His1847Arg	PROT:Q71F56	MED13L	H	1847	R	H1847R	Likely benign	0	2	34	39
MUT:MED13L:His198Pro	PROT:Q71F56	MED13L	H	198	P	H198P	Benign	0	1	34	200
MUT:MED13L:His2195Arg	PROT:Q71F56	MED13L	H	2195	R	H2195R	Pathogenic	1	1	34	35
MUT:MED13L:His304Arg	PROT:Q71F56	MED13L	H	304	R	H304R	Likely benign	0	1	34	94
MUT:MED13L:His375Arg	PROT:Q71F56	MED13L	H	375	R	H375R	Benign/Likely benign	0	1	34	23
MUT:MED13L:His40Arg	PROT:Q71F56	MED13L	H	40	R	H40R	Benign	0	1	34	358
MUT:MED13L:His428Arg	PROT:Q71F56	MED13L	H	428	R	H428R	Benign/Likely benign	0	1	34	30
MUT:MED13L:His549Asn	PROT:Q71F56	MED13L	H	549	N	H549N	Likely benign	0	1	34	1
MUT:MED13L:His874Pro	PROT:Q71F56	MED13L	H	874	P	H874P	Likely benign	0	1	34	4
MUT:MED13L:Ile1103Val	PROT:Q71F56	MED13L	I	1103	V	I1103V	Likely benign	0	1	34	22
MUT:MED13L:Ile1193Thr	PROT:Q71F56	MED13L	I	1193	T	I1193T	Benign/Likely benign	0	1	34	100
MUT:MED13L:Ile1382Val	PROT:Q71F56	MED13L	I	1382	V	I1382V	Likely benign	0	1	34	89
MUT:MED13L:Ile1596Val	PROT:Q71F56	MED13L	I	1596	V	I1596V	Benign	0	1	34	94
MUT:MED13L:Ile1630Met	PROT:Q71F56	MED13L	I	1630	M	I1630M	Benign	0	1	34	128
MUT:MED13L:Ile1793Val	PROT:Q71F56	MED13L	I	1793	V	I1793V	Likely benign	0	1	34	15
MUT:MED13L:Ile1898Phe	PROT:Q71F56	MED13L	I	1898	F	I1898F	Likely benign	0	1	34	90
MUT:MED13L:Ile1937Leu	PROT:Q71F56	MED13L	I	1937	L	I1937L	Benign/Likely benign	0	2	34	129
MUT:MED13L:Ile552Val	PROT:Q71F56	MED13L	I	552	V	I552V	Benign/Likely benign	0	1	34	1
MUT:MED13L:Ile56Val	PROT:Q71F56	MED13L	I	56	V	I56V	Benign	0	1	34	342
MUT:MED13L:Ile774Val	PROT:Q71F56	MED13L	I	774	V	I774V	Likely benign	0	1	34	1
MUT:MED13L:Ile978Leu	PROT:Q71F56	MED13L	I	978	L	I978L	Benign	0	1	34	72
MUT:MED13L:Ile978Val	PROT:Q71F56	MED13L	I	978	V	I978V	Likely benign	0	1	34	72
MUT:MED13L:Leu1228Phe	PROT:Q71F56	MED13L	L	1228	F	L1228F	Likely benign	0	1	34	65
MUT:MED13L:Leu1243Gln	PROT:Q71F56	MED13L	L	1243	Q	L1243Q	Benign	0	1	34	50
MUT:MED13L:Leu1408Trp	PROT:Q71F56	MED13L	L	1408	W	L1408W	Likely benign	0	1	34	66
MUT:MED13L:Leu1711Val	PROT:Q71F56	MED13L	L	1711	V	L1711V	Benign	0	1	34	59
MUT:MED13L:Leu191Phe	PROT:Q71F56	MED13L	L	191	F	L191F	Likely benign	0	1	34	207
MUT:MED13L:Leu2081His	PROT:Q71F56	MED13L	L	2081	H	L2081H	Likely benign	0	1	34	2
MUT:MED13L:Leu336Pro	PROT:Q71F56	MED13L	L	336	P	L336P	Likely benign	0	1	34	62
MUT:MED13L:Leu589Phe	PROT:Q71F56	MED13L	L	589	F	L589F	Likely benign	0	1	34	14
MUT:MED13L:Leu595Pro	PROT:Q71F56	MED13L	L	595	P	L595P	Likely benign	0	1	34	20
MUT:MED13L:Leu701Val	PROT:Q71F56	MED13L	L	701	V	L701V	Likely benign	0	1	34	46
MUT:MED13L:Leu822Arg	PROT:Q71F56	MED13L	L	822	R	L822R	Benign	0	1	34	4
MUT:MED13L:Lys1171Arg	PROT:Q71F56	MED13L	K	1171	R	K1171R	Benign/Likely benign	0	3	34	90
MUT:MED13L:Lys1216Arg	PROT:Q71F56	MED13L	K	1216	R	K1216R	Likely benign	0	1	34	77
MUT:MED13L:Lys1469Glu	PROT:Q71F56	MED13L	K	1469	E	K1469E	Likely benign	0	1	34	5
MUT:MED13L:Lys159Arg	PROT:Q71F56	MED13L	K	159	R	K159R	Benign	0	1	34	239
MUT:MED13L:Lys254Glu	PROT:Q71F56	MED13L	K	254	E	K254E	Likely benign	0	1	34	144
MUT:MED13L:Lys686Gln	PROT:Q71F56	MED13L	K	686	Q	K686Q	Benign/Likely benign	0	1	34	61
MUT:MED13L:Lys686Glu	PROT:Q71F56	MED13L	K	686	E	K686E	Benign	0	1	34	61
MUT:MED13L:Lys754Glu	PROT:Q71F56	MED13L	K	754	E	K754E	Likely benign	0	1	34	3
MUT:MED13L:Lys77Arg	PROT:Q71F56	MED13L	K	77	R	K77R	Likely benign	0	1	34	321
MUT:MED13L:Met1934Ile	PROT:Q71F56	MED13L	M	1934	I	M1934I	Benign/Likely benign	0	1	34	126
MUT:MED13L:Met1Leu	PROT:Q71F56	MED13L	M	1	L	M1L	Likely pathogenic	1	1	34	397
MUT:MED13L:Met1Thr	PROT:Q71F56	MED13L	M	1	T	M1T	Likely pathogenic	1	1	34	397
MUT:MED13L:Met1Val	PROT:Q71F56	MED13L	M	1	V	M1V	Pathogenic	1	2	34	397
MUT:MED13L:Met323Ile	PROT:Q71F56	MED13L	M	323	I	M323I	Likely benign	0	2	34	75
MUT:MED13L:Met342Thr	PROT:Q71F56	MED13L	M	342	T	M342T	Likely benign	0	1	34	56
MUT:MED13L:Met359Thr	PROT:Q71F56	MED13L	M	359	T	M359T	Benign	0	1	34	39
MUT:MED13L:Met376Ile	PROT:Q71F56	MED13L	M	376	I	M376I	Benign	0	1	34	22
MUT:MED13L:Met376Thr	PROT:Q71F56	MED13L	M	376	T	M376T	Likely benign	0	1	34	22
MUT:MED13L:Met834Ile	PROT:Q71F56	MED13L	M	834	I	M834I	Benign	0	1	34	8
MUT:MED13L:Met902Thr	PROT:Q71F56	MED13L	M	902	T	M902T	Benign/Likely benign	0	1	34	24
MUT:MED13L:Met915Thr	PROT:Q71F56	MED13L	M	915	T	M915T	Benign	0	1	34	37
MUT:MED13L:Met949Val	PROT:Q71F56	MED13L	M	949	V	M949V	Benign/Likely benign	0	1	34	71
MUT:MED13L:Met987Val	PROT:Q71F56	MED13L	M	987	V	M987V	Likely benign	0	1	34	63
MUT:MED13L:Phe865Leu	PROT:Q71F56	MED13L	F	865	L	F865L	Likely pathogenic	1	1	34	2
MUT:MED13L:Pro1097Leu	PROT:Q71F56	MED13L	P	1097	L	P1097L	Benign	0	1	34	16
MUT:MED13L:Pro1236Thr	PROT:Q71F56	MED13L	P	1236	T	P1236T	Benign/Likely benign	0	1	34	57
MUT:MED13L:Pro1379Leu	PROT:Q71F56	MED13L	P	1379	L	P1379L	Likely pathogenic	1	1	34	86
MUT:MED13L:Pro1487Thr	PROT:Q71F56	MED13L	P	1487	T	P1487T	Benign/Likely benign	0	2	34	13
MUT:MED13L:Pro1542Gln	PROT:Q71F56	MED13L	P	1542	Q	P1542Q	Likely benign	0	1	34	40
MUT:MED13L:Pro1557Arg	PROT:Q71F56	MED13L	P	1557	R	P1557R	Likely benign	0	1	34	55
MUT:MED13L:Pro1564Leu	PROT:Q71F56	MED13L	P	1564	L	P1564L	Benign/Likely benign	0	2	34	62
MUT:MED13L:Pro1763Leu	PROT:Q71F56	MED13L	P	1763	L	P1763L	Likely benign	0	1	34	7
MUT:MED13L:Pro2013Ala	PROT:Q71F56	MED13L	P	2013	A	P2013A	Likely benign	0	1	34	70
MUT:MED13L:Pro204Leu	PROT:Q71F56	MED13L	P	204	L	P204L	Likely benign	0	1	34	194
MUT:MED13L:Pro2094Ser	PROT:Q71F56	MED13L	P	2094	S	P2094S	Pathogenic/Likely pathogenic	1	1	34	3
MUT:MED13L:Pro2094Thr	PROT:Q71F56	MED13L	P	2094	T	P2094T	Pathogenic	1	1	34	3
MUT:MED13L:Pro327Ser	PROT:Q71F56	MED13L	P	327	S	P327S	Likely benign	0	1	34	71
MUT:MED13L:Pro370Ser	PROT:Q71F56	MED13L	P	370	S	P370S	Likely benign	0	1	34	28
MUT:MED13L:Pro462Leu	PROT:Q71F56	MED13L	P	462	L	P462L	Likely benign	0	1	34	30
MUT:MED13L:Pro483Thr	PROT:Q71F56	MED13L	P	483	T	P483T	Benign	0	1	34	9
MUT:MED13L:Pro626Leu	PROT:Q71F56	MED13L	P	626	L	P626L	Benign/Likely benign	0	3	34	51
MUT:MED13L:Pro700Arg	PROT:Q71F56	MED13L	P	700	R	P700R	Likely benign	0	1	34	47
MUT:MED13L:Pro866Leu	PROT:Q71F56	MED13L	P	866	L	P866L	Pathogenic/Likely pathogenic	1	2	34	1
MUT:MED13L:Pro869Leu	PROT:Q71F56	MED13L	P	869	L	P869L	Pathogenic/Likely pathogenic	1	2	34	1
MUT:MED13L:Pro869Ser	PROT:Q71F56	MED13L	P	869	S	P869S	Likely pathogenic	1	1	34	1
MUT:MED13L:Pro979Leu	PROT:Q71F56	MED13L	P	979	L	P979L	Benign	0	1	34	71
MUT:MED13L:Ser1116Tyr	PROT:Q71F56	MED13L	S	1116	Y	S1116Y	Likely benign	0	1	34	35
MUT:MED13L:Ser1248Cys	PROT:Q71F56	MED13L	S	1248	C	S1248C	Benign	0	1	34	45
MUT:MED13L:Ser1306Pro	PROT:Q71F56	MED13L	S	1306	P	S1306P	Benign	0	1	34	13
MUT:MED13L:Ser1566Leu	PROT:Q71F56	MED13L	S	1566	L	S1566L	Benign/Likely benign	0	2	34	64
MUT:MED13L:Ser1582Phe	PROT:Q71F56	MED13L	S	1582	F	S1582F	Likely benign	0	1	34	80
MUT:MED13L:Ser1582Thr	PROT:Q71F56	MED13L	S	1582	T	S1582T	Benign/Likely benign	0	7	34	80
MUT:MED13L:Ser1589Leu	PROT:Q71F56	MED13L	S	1589	L	S1589L	Benign	0	1	34	87
MUT:MED13L:Ser1721Phe	PROT:Q71F56	MED13L	S	1721	F	S1721F	Likely benign	0	1	34	49
MUT:MED13L:Ser1770Pro	PROT:Q71F56	MED13L	S	1770	P	S1770P	Likely benign	0	1	34	0
MUT:MED13L:Ser1791Gly	PROT:Q71F56	MED13L	S	1791	G	S1791G	Likely benign	0	1	34	17
MUT:MED13L:Ser2163Leu	PROT:Q71F56	MED13L	S	2163	L	S2163L	Pathogenic/Likely pathogenic	1	1	34	3
MUT:MED13L:Ser253Leu	PROT:Q71F56	MED13L	S	253	L	S253L	Benign	0	1	34	145
MUT:MED13L:Ser314Gly	PROT:Q71F56	MED13L	S	314	G	S314G	Benign	0	1	34	84
MUT:MED13L:Ser365Leu	PROT:Q71F56	MED13L	S	365	L	S365L	Likely benign	0	1	34	33
MUT:MED13L:Ser397Pro	PROT:Q71F56	MED13L	S	397	P	S397P	Likely benign	0	1	34	1
MUT:MED13L:Ser424Pro	PROT:Q71F56	MED13L	S	424	P	S424P	Likely benign	0	1	34	26
MUT:MED13L:Ser464Ala	PROT:Q71F56	MED13L	S	464	A	S464A	Benign	0	1	34	28
MUT:MED13L:Ser465Phe	PROT:Q71F56	MED13L	S	465	F	S465F	Likely benign	0	1	34	27
MUT:MED13L:Ser522Gly	PROT:Q71F56	MED13L	S	522	G	S522G	Benign/Likely benign	0	2	34	1
MUT:MED13L:Ser570Asn	PROT:Q71F56	MED13L	S	570	N	S570N	Likely benign	0	1	34	5
MUT:MED13L:Ser624Leu	PROT:Q71F56	MED13L	S	624	L	S624L	Likely benign	0	1	34	49
MUT:MED13L:Ser664Ala	PROT:Q71F56	MED13L	S	664	A	S664A	Likely benign	0	1	34	83
MUT:MED13L:Ser741Cys	PROT:Q71F56	MED13L	S	741	C	S741C	Likely benign	0	1	34	6
MUT:MED13L:Ser900Arg	PROT:Q71F56	MED13L	S	900	R	S900R	Benign	0	1	34	22
MUT:MED13L:Thr1089Ala	PROT:Q71F56	MED13L	T	1089	A	T1089A	Benign	0	1	34	8
MUT:MED13L:Thr1161Ile	PROT:Q71F56	MED13L	T	1161	I	T1161I	Likely pathogenic	1	1	34	80
MUT:MED13L:Thr1253Ile	PROT:Q71F56	MED13L	T	1253	I	T1253I	Benign/Likely benign	0	2	34	40
MUT:MED13L:Thr1290Ala	PROT:Q71F56	MED13L	T	1290	A	T1290A	Likely benign	0	1	34	3
MUT:MED13L:Thr1618Ser	PROT:Q71F56	MED13L	T	1618	S	T1618S	Benign/Likely benign	0	2	34	116
MUT:MED13L:Thr1923Ile	PROT:Q71F56	MED13L	T	1923	I	T1923I	Benign/Likely benign	0	2	34	115
MUT:MED13L:Thr2162Met	PROT:Q71F56	MED13L	T	2162	M	T2162M	Pathogenic	1	2	34	2
MUT:MED13L:Thr28Met	PROT:Q71F56	MED13L	T	28	M	T28M	Likely benign	0	1	34	370
MUT:MED13L:Thr400Ala	PROT:Q71F56	MED13L	T	400	A	T400A	Likely benign	0	1	34	2
MUT:MED13L:Thr443Ile	PROT:Q71F56	MED13L	T	443	I	T443I	Likely benign	0	1	34	45
MUT:MED13L:Thr594Ala	PROT:Q71F56	MED13L	T	594	A	T594A	Likely benign	0	1	34	19
MUT:MED13L:Thr867Ile	PROT:Q71F56	MED13L	T	867	I	T867I	Likely pathogenic	1	1	34	0
MUT:MED13L:Trp683Cys	PROT:Q71F56	MED13L	W	683	C	W683C	Benign/Likely benign	0	1	34	64
MUT:MED13L:Tyr1110Phe	PROT:Q71F56	MED13L	Y	1110	F	Y1110F	Likely benign	0	1	34	29
MUT:MED13L:Tyr116Cys	PROT:Q71F56	MED13L	Y	116	C	Y116C	Likely pathogenic	1	1	34	282
MUT:MED13L:Tyr1245Cys	PROT:Q71F56	MED13L	Y	1245	C	Y1245C	Likely benign	0	1	34	48
MUT:MED13L:Tyr1680Cys	PROT:Q71F56	MED13L	Y	1680	C	Y1680C	Likely pathogenic	1	1	34	90
MUT:MED13L:Tyr214Cys	PROT:Q71F56	MED13L	Y	214	C	Y214C	Likely benign	0	1	34	184
MUT:MED13L:Tyr241Cys	PROT:Q71F56	MED13L	Y	241	C	Y241C	Likely benign	0	1	34	157
MUT:MED13L:Tyr618Cys	PROT:Q71F56	MED13L	Y	618	C	Y618C	Benign/Likely benign	0	1	34	43
MUT:MED13L:Tyr883Cys	PROT:Q71F56	MED13L	Y	883	C	Y883C	Likely benign	0	1	34	5
MUT:MED13L:Val1022Met	PROT:Q71F56	MED13L	V	1022	M	V1022M	Likely benign	0	1	34	28
MUT:MED13L:Val1294Glu	PROT:Q71F56	MED13L	V	1294	E	V1294E	Benign/Likely benign	0	1	34	1
MUT:MED13L:Val1387Ile	PROT:Q71F56	MED13L	V	1387	I	V1387I	Likely benign	0	1	34	87
MUT:MED13L:Val140Ile	PROT:Q71F56	MED13L	V	140	I	V140I	Likely benign	0	1	34	258
MUT:MED13L:Val1444Ile	PROT:Q71F56	MED13L	V	1444	I	V1444I	Likely benign	0	1	34	30
MUT:MED13L:Val1611Ile	PROT:Q71F56	MED13L	V	1611	I	V1611I	Likely benign	0	1	34	109
MUT:MED13L:Val1653Ile	PROT:Q71F56	MED13L	V	1653	I	V1653I	Benign	0	1	34	117
MUT:MED13L:Val1678Asp	PROT:Q71F56	MED13L	V	1678	D	V1678D	Likely pathogenic	1	1	34	92
MUT:MED13L:Val1754Ala	PROT:Q71F56	MED13L	V	1754	A	V1754A	Benign	0	1	34	16
MUT:MED13L:Val1828Leu	PROT:Q71F56	MED13L	V	1828	L	V1828L	Likely benign	0	2	34	20
MUT:MED13L:Val1855Ile	PROT:Q71F56	MED13L	V	1855	I	V1855I	Likely benign	0	3	34	47
MUT:MED13L:Val2194Ile	PROT:Q71F56	MED13L	V	2194	I	V2194I	Benign	0	2	34	34
MUT:MED13L:Val602Leu	PROT:Q71F56	MED13L	V	602	L	V602L	Likely benign	0	1	34	27
MUT:MED13L:Val71Ile	PROT:Q71F56	MED13L	V	71	I	V71I	Benign	0	1	34	327
MUT:MED13L:Val938Ile	PROT:Q71F56	MED13L	V	938	I	V938I	Benign	0	2	34	60
MUT:MED13L:Val945Ala	PROT:Q71F56	MED13L	V	945	A	V945A	Benign	0	1	34	67
MUT:MED17:Asp469Tyr	PROT:Q9NVC6	MED17	D	469	Y	D469Y	Likely benign	0	2	17	54
MUT:MED17:Gln68Pro	PROT:Q9NVC6	MED17	Q	68	P	Q68P	Benign/Likely benign	0	1	17	15
MUT:MED17:Glu69Asp	PROT:Q9NVC6	MED17	E	69	D	E69D	Benign	0	1	17	16
MUT:MED17:Gly253Arg	PROT:Q9NVC6	MED17	G	253	R	G253R	Likely pathogenic	1	1	17	10
MUT:MED17:Gly74Arg	PROT:Q9NVC6	MED17	G	74	R	G74R	Likely benign	0	1	17	21
MUT:MED17:His324Gln	PROT:Q9NVC6	MED17	H	324	Q	H324Q	Likely benign	0	1	17	5
MUT:MED17:Leu371Pro	PROT:Q9NVC6	MED17	L	371	P	L371P	Pathogenic/Likely pathogenic	1	1	17	10
MUT:MED17:Leu377Val	PROT:Q9NVC6	MED17	L	377	V	L377V	Likely benign	0	1	17	16
MUT:MED17:Ser75Cys	PROT:Q9NVC6	MED17	S	75	C	S75C	Benign/Likely benign	0	2	17	22
MUT:MED23:Arg1328Pro	PROT:Q9ULK4	MED23	R	1328	P	R1328P	Pathogenic	1	1	8	6
MUT:MED23:Arg224Gly	PROT:Q9ULK4	MED23	R	224	G	R224G	Pathogenic	1	1	8	18
MUT:MED23:Arg611Gln	PROT:Q9ULK4	MED23	R	611	Q	R611Q	Likely pathogenic	1	1	8	55
MUT:MED23:Gln640Arg	PROT:Q9ULK4	MED23	Q	640	R	Q640R	Pathogenic	1	1	8	26
MUT:MED23:Gly128Arg	PROT:Q9ULK4	MED23	G	128	R	G128R	Pathogenic	1	1	8	114
MUT:MED23:His1213Arg	PROT:Q9ULK4	MED23	H	1213	R	H1213R	Pathogenic	1	1	8	109
MUT:MED23:Leu160Pro	PROT:Q9ULK4	MED23	L	160	P	L160P	Likely pathogenic	1	1	8	82
MUT:MED23:Pro394Leu	PROT:Q9ULK4	MED23	P	394	L	P394L	Likely pathogenic	1	1	8	71
MUT:MED23:Tyr169Cys	PROT:Q9ULK4	MED23	Y	169	C	Y169C	Pathogenic	1	1	8	73
MUT:MED24:Ala682Thr	PROT:O75448	MED24	A	682	T	A682T	Likely benign	0	1	11	35
MUT:MED24:Arg763Gln	PROT:O75448	MED24	R	763	Q	R763Q	Likely pathogenic	1	1	11	46
MUT:MED24:Thr416Ser	PROT:O75448	MED24	T	416	S	T416S	Likely pathogenic	1	1	11	6
MUT:MEFV:Arg202Gln	PROT:O15553	MEFV	R	202	Q	R202Q	Benign	0	3	9	6
MUT:MEFV:Arg653His	PROT:O15553	MEFV	R	653	H	R653H	Pathogenic/Likely pathogenic	1	2	9	19
MUT:MEFV:Arg761His	PROT:O15553	MEFV	R	761	H	R761H	Pathogenic/Likely pathogenic	1	4	9	20
MUT:MEFV:Glu244Lys	PROT:O15553	MEFV	E	244	K	E244K	Pathogenic	1	1	9	2
MUT:MEFV:Gly111Glu	PROT:O15553	MEFV	G	111	E	G111E	Pathogenic	1	1	9	66
MUT:MEFV:Gly197Ser	PROT:O15553	MEFV	G	197	S	G197S	Likely benign	0	1	9	11
MUT:MEFV:Leu13Val	PROT:O15553	MEFV	L	13	V	L13V	Benign	0	3	9	164
MUT:MEFV:Lys716Arg	PROT:O15553	MEFV	K	716	R	K716R	Likely benign	0	1	9	25
MUT:MEFV:Met680Ile	PROT:O15553	MEFV	M	680	I	M680I	Pathogenic	1	5	9	7
MUT:MEFV:Met694Ile	PROT:O15553	MEFV	M	694	I	M694I	Pathogenic/Likely pathogenic	1	4	9	21
MUT:MEFV:Met694Val	PROT:O15553	MEFV	M	694	V	M694V	Pathogenic/Likely pathogenic	1	6	9	21
MUT:MEFV:Pro371Ser	PROT:O15553	MEFV	P	371	S	P371S	Likely benign	0	1	9	3
MUT:MEFV:Pro588Leu	PROT:O15553	MEFV	P	588	L	P588L	Likely benign	0	1	9	84
MUT:MEFV:Ser242Arg	PROT:O15553	MEFV	S	242	R	S242R	Pathogenic/Likely pathogenic	1	4	9	0
MUT:MEFV:Ser242Gly	PROT:O15553	MEFV	S	242	G	S242G	Likely pathogenic	1	1	9	0
MUT:MEFV:Val726Ala	PROT:O15553	MEFV	V	726	A	V726A	Pathogenic/Likely pathogenic	1	4	9	15
MUT:MEGF8:Ala1995Val	PROT:Q7Z7M0	MEGF8	A	1995	V	A1995V	Likely benign	0	1	1	44
MUT:MEGF8:Ala2724Thr	PROT:Q7Z7M0	MEGF8	A	2724	T	A2724T	Likely benign	0	1	1	773
MUT:MEGF8:Arg1104Trp	PROT:Q7Z7M0	MEGF8	R	1104	W	R1104W	Likely benign	0	1	1	847
MUT:MEGF8:Arg1209Trp	PROT:Q7Z7M0	MEGF8	R	1209	W	R1209W	Likely benign	0	1	1	742
MUT:MEGF8:Arg1566His	PROT:Q7Z7M0	MEGF8	R	1566	H	R1566H	Pathogenic/Likely pathogenic	1	1	1	385
MUT:MEGF8:Arg1594His	PROT:Q7Z7M0	MEGF8	R	1594	H	R1594H	Benign/Likely benign	0	1	1	357
MUT:MEGF8:Arg1728Cys	PROT:Q7Z7M0	MEGF8	R	1728	C	R1728C	Likely benign	0	1	1	223
MUT:MEGF8:Arg1783His	PROT:Q7Z7M0	MEGF8	R	1783	H	R1783H	Likely benign	0	1	1	168
MUT:MEGF8:Arg2474His	PROT:Q7Z7M0	MEGF8	R	2474	H	R2474H	Likely benign	0	2	1	523
MUT:MEGF8:Arg2809Lys	PROT:Q7Z7M0	MEGF8	R	2809	K	R2809K	Benign/Likely benign	0	1	1	858
MUT:MEGF8:Arg315Gly	PROT:Q7Z7M0	MEGF8	R	315	G	R315G	Likely benign	0	1	1	1636
MUT:MEGF8:Arg782Gln	PROT:Q7Z7M0	MEGF8	R	782	Q	R782Q	Likely benign	0	1	1	1169
MUT:MEGF8:Gly199Arg	PROT:Q7Z7M0	MEGF8	G	199	R	G199R	Pathogenic	1	1	1	1752
MUT:MEGF8:Gly2157Ser	PROT:Q7Z7M0	MEGF8	G	2157	S	G2157S	Likely benign	0	1	1	206
MUT:MEGF8:Gly247Cys	PROT:Q7Z7M0	MEGF8	G	247	C	G247C	Likely pathogenic	1	1	1	1704
MUT:MEGF8:His1113Tyr	PROT:Q7Z7M0	MEGF8	H	1113	Y	H1113Y	Likely benign	0	1	1	838
MUT:MEGF8:Leu293Pro	PROT:Q7Z7M0	MEGF8	L	293	P	L293P	Likely pathogenic	1	1	1	1658
MUT:MEGF8:Lys1758Glu	PROT:Q7Z7M0	MEGF8	K	1758	E	K1758E	Benign	0	1	1	193
MUT:MEGF8:Met1581Ile	PROT:Q7Z7M0	MEGF8	M	1581	I	M1581I	Benign	0	1	1	370
MUT:MEGF8:Met1759Val	PROT:Q7Z7M0	MEGF8	M	1759	V	M1759V	Likely benign	0	1	1	192
MUT:MEGF8:Met1838Val	PROT:Q7Z7M0	MEGF8	M	1838	V	M1838V	Likely benign	0	1	1	113
MUT:MEGF8:Met2215Val	PROT:Q7Z7M0	MEGF8	M	2215	V	M2215V	Likely benign	0	1	1	264
MUT:MEGF8:Pro143Gln	PROT:Q7Z7M0	MEGF8	P	143	Q	P143Q	Likely benign	0	1	1	1808
MUT:MEGF8:Pro355Leu	PROT:Q7Z7M0	MEGF8	P	355	L	P355L	Likely benign	0	1	1	1596
MUT:MEGF8:Pro94Leu	PROT:Q7Z7M0	MEGF8	P	94	L	P94L	Likely benign	0	1	1	1857
MUT:MEGF8:Ser1166Asn	PROT:Q7Z7M0	MEGF8	S	1166	N	S1166N	Likely benign	0	1	1	785
MUT:MEGF8:Ser2434Gly	PROT:Q7Z7M0	MEGF8	S	2434	G	S2434G	Pathogenic	1	1	1	483
MUT:MEGF8:Ser2823Gly	PROT:Q7Z7M0	MEGF8	S	2823	G	S2823G	Benign/Likely benign	0	1	1	872
MUT:MEGF8:Thr1593Ala	PROT:Q7Z7M0	MEGF8	T	1593	A	T1593A	Likely benign	0	1	1	358
MUT:MEGF8:Thr2523Ala	PROT:Q7Z7M0	MEGF8	T	2523	A	T2523A	Likely benign	0	1	1	572
MUT:MEGF8:Val1842Leu	PROT:Q7Z7M0	MEGF8	V	1842	L	V1842L	Benign	0	1	1	109
MUT:MEGF8:Val2352Met	PROT:Q7Z7M0	MEGF8	V	2352	M	V2352M	Benign/Likely benign	0	1	1	401
MUT:MEGF8:Val2569Ile	PROT:Q7Z7M0	MEGF8	V	2569	I	V2569I	Likely benign	0	2	1	618
MUT:MEIS2:Ala293Pro	PROT:O14770	MEIS2	A	293	P	A293P	Likely pathogenic	1	1	1	113
MUT:MEIS2:Ala68Ser	PROT:O14770	MEIS2	A	68	S	A68S	Benign	0	1	1	112
MUT:MEIS2:Arg331Lys	PROT:O14770	MEIS2	R	331	K	R331K	Pathogenic	1	1	1	151
MUT:MEIS2:Arg333Lys	PROT:O14770	MEIS2	R	333	K	R333K	Likely pathogenic	1	1	1	153
MUT:MEIS2:Arg333Ser	PROT:O14770	MEIS2	R	333	S	R333S	Likely pathogenic	1	1	1	153
MUT:MEIS2:Asn325Asp	PROT:O14770	MEIS2	N	325	D	N325D	Likely pathogenic	1	1	1	145
MUT:MEIS2:Asn329Ser	PROT:O14770	MEIS2	N	329	S	N329S	Likely pathogenic	1	1	1	149
MUT:MEIS2:Asp6Glu	PROT:O14770	MEIS2	D	6	E	D6E	Likely benign	0	1	1	174
MUT:MEIS2:Gln322Glu	PROT:O14770	MEIS2	Q	322	E	Q322E	Likely pathogenic	1	1	1	142
MUT:MEIS2:Glu306Lys	PROT:O14770	MEIS2	E	306	K	E306K	Pathogenic/Likely pathogenic	1	1	1	126
MUT:MEIS2:Gly194Ser	PROT:O14770	MEIS2	G	194	S	G194S	Benign	0	1	1	14
MUT:MEIS2:Gly389Ala	PROT:O14770	MEIS2	G	389	A	G389A	Likely benign	0	1	1	209
MUT:MEIS2:His240Arg	PROT:O14770	MEIS2	H	240	R	H240R	Benign	0	1	1	60
MUT:MEIS2:His421Arg	PROT:O14770	MEIS2	H	421	R	H421R	Benign	0	1	1	241
MUT:MEIS2:Met438Val	PROT:O14770	MEIS2	M	438	V	M438V	Likely benign	0	1	1	258
MUT:MEIS2:Met472Ile	PROT:O14770	MEIS2	M	472	I	M472I	Likely benign	0	1	1	292
MUT:MEIS2:Pro215Arg	PROT:O14770	MEIS2	P	215	R	P215R	Likely benign	0	1	1	35
MUT:MEIS2:Pro235Leu	PROT:O14770	MEIS2	P	235	L	P235L	Benign	0	1	1	55
MUT:MEIS2:Pro302Leu	PROT:O14770	MEIS2	P	302	L	P302L	Likely pathogenic	1	1	1	122
MUT:MEIS2:Tyr303Asn	PROT:O14770	MEIS2	Y	303	N	Y303N	Likely pathogenic	1	1	1	123
MUT:MEIS2:Tyr303Cys	PROT:O14770	MEIS2	Y	303	C	Y303C	Likely pathogenic	1	1	1	123
MUT:MEIS2:Val323Gly	PROT:O14770	MEIS2	V	323	G	V323G	Likely pathogenic	1	1	1	143
MUT:MEN1:Ala160Pro	PROT:O00255	MEN1	A	160	P	A160P	Pathogenic	1	2	16	40
MUT:MEN1:Ala164Asp	PROT:O00255	MEN1	A	164	D	A164D	Pathogenic	1	2	16	44
MUT:MEN1:Ala164Val	PROT:O00255	MEN1	A	164	V	A164V	Likely pathogenic	1	2	16	44
MUT:MEN1:Ala176Pro	PROT:O00255	MEN1	A	176	P	A176P	Pathogenic/Likely pathogenic	1	2	16	34
MUT:MEN1:Ala242Val	PROT:O00255	MEN1	A	242	V	A242V	Pathogenic/Likely pathogenic	1	1	16	32
MUT:MEN1:Ala284Glu	PROT:O00255	MEN1	A	284	E	A284E	Pathogenic	1	1	16	26
MUT:MEN1:Ala284Val	PROT:O00255	MEN1	A	284	V	A284V	Likely pathogenic	1	1	16	26
MUT:MEN1:Ala337Asp	PROT:O00255	MEN1	A	337	D	A337D	Pathogenic	1	2	16	22
MUT:MEN1:Ala337Pro	PROT:O00255	MEN1	A	337	P	A337P	Likely pathogenic	1	1	16	22
MUT:MEN1:Ala337Thr	PROT:O00255	MEN1	A	337	T	A337T	Likely pathogenic	1	1	16	22
MUT:MEN1:Ala342Pro	PROT:O00255	MEN1	A	342	P	A342P	Likely pathogenic	1	1	16	27
MUT:MEN1:Ala368Asp	PROT:O00255	MEN1	A	368	D	A368D	Pathogenic	1	1	16	31
MUT:MEN1:Ala368Pro	PROT:O00255	MEN1	A	368	P	A368P	Likely pathogenic	1	1	16	31
MUT:MEN1:Ala368Thr	PROT:O00255	MEN1	A	368	T	A368T	Likely pathogenic	1	1	16	31
MUT:MEN1:Ala411Pro	PROT:O00255	MEN1	A	411	P	A411P	Likely pathogenic	1	1	16	12
MUT:MEN1:Ala465Val	PROT:O00255	MEN1	A	465	V	A465V	Likely benign	0	1	16	22
MUT:MEN1:Ala49Pro	PROT:O00255	MEN1	A	49	P	A49P	Likely pathogenic	1	1	16	41
MUT:MEN1:Arg275Lys	PROT:O00255	MEN1	R	275	K	R275K	Pathogenic	1	2	16	35
MUT:MEN1:Arg452Gly	PROT:O00255	MEN1	R	452	G	R452G	Likely pathogenic	1	1	16	9
MUT:MEN1:Arg452Leu	PROT:O00255	MEN1	R	452	L	R452L	Likely pathogenic	1	1	16	9
MUT:MEN1:Arg452Pro	PROT:O00255	MEN1	R	452	P	R452P	Likely pathogenic	1	2	16	9
MUT:MEN1:Arg52Gly	PROT:O00255	MEN1	R	52	G	R52G	Likely pathogenic	1	1	16	44
MUT:MEN1:Asp153Ala	PROT:O00255	MEN1	D	153	A	D153A	Likely pathogenic	1	1	16	33
MUT:MEN1:Asp153Glu	PROT:O00255	MEN1	D	153	E	D153E	Likely pathogenic	1	1	16	33
MUT:MEN1:Asp153Val	PROT:O00255	MEN1	D	153	V	D153V	Pathogenic/Likely pathogenic	1	1	16	33
MUT:MEN1:Asp172Tyr	PROT:O00255	MEN1	D	172	Y	D172Y	Pathogenic/Likely pathogenic	1	2	16	38
MUT:MEN1:Asp172Val	PROT:O00255	MEN1	D	172	V	D172V	Likely pathogenic	1	1	16	38
MUT:MEN1:Asp33Glu	PROT:O00255	MEN1	D	33	E	D33E	Likely pathogenic	1	1	16	25
MUT:MEN1:Asp33His	PROT:O00255	MEN1	D	33	H	D33H	Likely pathogenic	1	1	16	25
MUT:MEN1:Asp33Tyr	PROT:O00255	MEN1	D	33	Y	D33Y	Likely pathogenic	1	2	16	25
MUT:MEN1:Asp350Val	PROT:O00255	MEN1	D	350	V	D350V	Likely pathogenic	1	1	16	35
MUT:MEN1:Asp418Asn	PROT:O00255	MEN1	D	418	N	D418N	Pathogenic	1	2	16	19
MUT:MEN1:Asp418His	PROT:O00255	MEN1	D	418	H	D418H	Pathogenic/Likely pathogenic	1	2	16	19
MUT:MEN1:Asp418Tyr	PROT:O00255	MEN1	D	418	Y	D418Y	Pathogenic	1	2	16	19
MUT:MEN1:Asp82Glu	PROT:O00255	MEN1	D	82	E	D82E	Benign/Likely benign	0	2	16	38
MUT:MEN1:Cys165Arg	PROT:O00255	MEN1	C	165	R	C165R	Likely pathogenic	1	1	16	45
MUT:MEN1:Cys165Tyr	PROT:O00255	MEN1	C	165	Y	C165Y	Pathogenic/Likely pathogenic	1	1	16	45
MUT:MEN1:Cys241Arg	PROT:O00255	MEN1	C	241	R	C241R	Likely pathogenic	1	2	16	31
MUT:MEN1:Cys241Tyr	PROT:O00255	MEN1	C	241	Y	C241Y	Pathogenic/Likely pathogenic	1	2	16	31
MUT:MEN1:Cys421Tyr	PROT:O00255	MEN1	C	421	Y	C421Y	Pathogenic/Likely pathogenic	1	2	16	17
MUT:MEN1:Gln141Leu	PROT:O00255	MEN1	Q	141	L	Q141L	Pathogenic	1	1	16	21
MUT:MEN1:Gln395His	PROT:O00255	MEN1	Q	395	H	Q395H	Benign	0	1	16	4
MUT:MEN1:Gln450His	PROT:O00255	MEN1	Q	450	H	Q450H	Likely pathogenic	1	2	16	7
MUT:MEN1:Glu179Lys	PROT:O00255	MEN1	E	179	K	E179K	Pathogenic/Likely pathogenic	1	2	16	31
MUT:MEN1:Glu26Lys	PROT:O00255	MEN1	E	26	K	E26K	Pathogenic/Likely pathogenic	1	2	16	18
MUT:MEN1:Glu359Lys	PROT:O00255	MEN1	E	359	K	E359K	Pathogenic	1	1	16	40
MUT:MEN1:Glu45Asp	PROT:O00255	MEN1	E	45	D	E45D	Pathogenic/Likely pathogenic	1	2	16	37
MUT:MEN1:Glu45Gln	PROT:O00255	MEN1	E	45	Q	E45Q	Pathogenic	1	2	16	37
MUT:MEN1:Glu45Gly	PROT:O00255	MEN1	E	45	G	E45G	Pathogenic	1	2	16	37
MUT:MEN1:Glu45Lys	PROT:O00255	MEN1	E	45	K	E45K	Pathogenic/Likely pathogenic	1	2	16	37
MUT:MEN1:Glu45Val	PROT:O00255	MEN1	E	45	V	E45V	Likely pathogenic	1	1	16	37
MUT:MEN1:Gly156Arg	PROT:O00255	MEN1	G	156	R	G156R	Pathogenic/Likely pathogenic	1	2	16	36
MUT:MEN1:Gly156Asp	PROT:O00255	MEN1	G	156	D	G156D	Pathogenic/Likely pathogenic	1	2	16	36
MUT:MEN1:Gly156Cys	PROT:O00255	MEN1	G	156	C	G156C	Pathogenic/Likely pathogenic	1	2	16	36
MUT:MEN1:Gly163Arg	PROT:O00255	MEN1	G	163	R	G163R	Likely pathogenic	1	1	16	43
MUT:MEN1:Gly225Arg	PROT:O00255	MEN1	G	225	R	G225R	Likely pathogenic	1	2	16	15
MUT:MEN1:Gly281Arg	PROT:O00255	MEN1	G	281	R	G281R	Likely pathogenic	1	1	16	29
MUT:MEN1:Gly419Val	PROT:O00255	MEN1	G	419	V	G419V	Likely pathogenic	1	1	16	19
MUT:MEN1:Gly42Ala	PROT:O00255	MEN1	G	42	A	G42A	Pathogenic	1	1	16	34
MUT:MEN1:Gly42Arg	PROT:O00255	MEN1	G	42	R	G42R	Likely pathogenic	1	1	16	34
MUT:MEN1:Gly503Asp	PROT:O00255	MEN1	G	503	D	G503D	Benign/Likely benign	0	3	16	11
MUT:MEN1:Gly609Val	PROT:O00255	MEN1	G	609	V	G609V	Likely benign	0	1	16	0
MUT:MEN1:His139Arg	PROT:O00255	MEN1	H	139	R	H139R	Pathogenic/Likely pathogenic	1	2	16	19
MUT:MEN1:His139Asp	PROT:O00255	MEN1	H	139	D	H139D	Pathogenic	1	2	16	19
MUT:MEN1:His139Gln	PROT:O00255	MEN1	H	139	Q	H139Q	Likely pathogenic	1	1	16	19
MUT:MEN1:His139Pro	PROT:O00255	MEN1	H	139	P	H139P	Likely pathogenic	1	1	16	19
MUT:MEN1:His139Tyr	PROT:O00255	MEN1	H	139	Y	H139Y	Pathogenic	1	1	16	19
MUT:MEN1:His181Arg	PROT:O00255	MEN1	H	181	R	H181R	Pathogenic/Likely pathogenic	1	2	16	29
MUT:MEN1:His181Asp	PROT:O00255	MEN1	H	181	D	H181D	Likely pathogenic	1	1	16	29
MUT:MEN1:His317Arg	PROT:O00255	MEN1	H	317	R	H317R	Likely pathogenic	1	1	16	2
MUT:MEN1:His317Tyr	PROT:O00255	MEN1	H	317	Y	H317Y	Pathogenic/Likely pathogenic	1	2	16	2
MUT:MEN1:His328Arg	PROT:O00255	MEN1	H	328	R	H328R	Likely pathogenic	1	1	16	13
MUT:MEN1:His328Pro	PROT:O00255	MEN1	H	328	P	H328P	Likely pathogenic	1	1	16	13
MUT:MEN1:His46Arg	PROT:O00255	MEN1	H	46	R	H46R	Likely pathogenic	1	1	16	38
MUT:MEN1:His46Leu	PROT:O00255	MEN1	H	46	L	H46L	Likely pathogenic	1	1	16	38
MUT:MEN1:His46Pro	PROT:O00255	MEN1	H	46	P	H46P	Likely pathogenic	1	1	16	38
MUT:MEN1:Ile348Asn	PROT:O00255	MEN1	I	348	N	I348N	Likely pathogenic	1	2	16	33
MUT:MEN1:Ile420Ser	PROT:O00255	MEN1	I	420	S	I420S	Likely pathogenic	1	1	16	18
MUT:MEN1:Leu143Arg	PROT:O00255	MEN1	L	143	R	L143R	Likely pathogenic	1	1	16	23
MUT:MEN1:Leu143His	PROT:O00255	MEN1	L	143	H	L143H	Likely pathogenic	1	1	16	23
MUT:MEN1:Leu168Pro	PROT:O00255	MEN1	L	168	P	L168P	Pathogenic/Likely pathogenic	1	1	16	42
MUT:MEN1:Leu177Arg	PROT:O00255	MEN1	L	177	R	L177R	Likely pathogenic	1	1	16	33
MUT:MEN1:Leu223Arg	PROT:O00255	MEN1	L	223	R	L223R	Likely pathogenic	1	1	16	13
MUT:MEN1:Leu223Pro	PROT:O00255	MEN1	L	223	P	L223P	Pathogenic/Likely pathogenic	1	2	16	13
MUT:MEN1:Leu22Arg	PROT:O00255	MEN1	L	22	R	L22R	Pathogenic/Likely pathogenic	1	1	16	14
MUT:MEN1:Leu22Met	PROT:O00255	MEN1	L	22	M	L22M	Likely pathogenic	1	1	16	14
MUT:MEN1:Leu256Arg	PROT:O00255	MEN1	L	256	R	L256R	Likely pathogenic	1	1	16	46
MUT:MEN1:Leu256Phe	PROT:O00255	MEN1	L	256	F	L256F	Pathogenic/Likely pathogenic	1	1	16	46
MUT:MEN1:Leu256Pro	PROT:O00255	MEN1	L	256	P	L256P	Likely pathogenic	1	1	16	46
MUT:MEN1:Leu264Pro	PROT:O00255	MEN1	L	264	P	L264P	Pathogenic/Likely pathogenic	1	1	16	46
MUT:MEN1:Leu273Arg	PROT:O00255	MEN1	L	273	R	L273R	Likely pathogenic	1	1	16	37
MUT:MEN1:Leu338Arg	PROT:O00255	MEN1	L	338	R	L338R	Pathogenic	1	1	16	23
MUT:MEN1:Leu338Pro	PROT:O00255	MEN1	L	338	P	L338P	Likely pathogenic	1	1	16	23
MUT:MEN1:Leu376Pro	PROT:O00255	MEN1	L	376	P	L376P	Likely pathogenic	1	1	16	23
MUT:MEN1:Leu413Pro	PROT:O00255	MEN1	L	413	P	L413P	Likely pathogenic	1	1	16	14
MUT:MEN1:Leu432Arg	PROT:O00255	MEN1	L	432	R	L432R	Likely pathogenic	1	1	16	6
MUT:MEN1:Leu579Pro	PROT:O00255	MEN1	L	579	P	L579P	Pathogenic/Likely pathogenic	1	1	16	19
MUT:MEN1:Lys119Met	PROT:O00255	MEN1	K	119	M	K119M	Likely pathogenic	1	1	16	1
MUT:MEN1:Lys557Glu	PROT:O00255	MEN1	K	557	E	K557E	Likely pathogenic	1	1	16	5
MUT:MEN1:Met1Arg	PROT:O00255	MEN1	M	1	R	M1R	Pathogenic	1	1	16	7
MUT:MEN1:Met1Ile	PROT:O00255	MEN1	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	16	7
MUT:MEN1:Met1Leu	PROT:O00255	MEN1	M	1	L	M1L	Pathogenic/Likely pathogenic	1	2	16	7
MUT:MEN1:Met1Lys	PROT:O00255	MEN1	M	1	K	M1K	Pathogenic	1	2	16	7
MUT:MEN1:Met1Thr	PROT:O00255	MEN1	M	1	T	M1T	Pathogenic	1	1	16	7
MUT:MEN1:Met1Val	PROT:O00255	MEN1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	16	7
MUT:MEN1:Met278Arg	PROT:O00255	MEN1	M	278	R	M278R	Likely pathogenic	1	2	16	32
MUT:MEN1:Met278Ile	PROT:O00255	MEN1	M	278	I	M278I	Likely pathogenic	1	2	16	32
MUT:MEN1:Met558Thr	PROT:O00255	MEN1	M	558	T	M558T	Likely pathogenic	1	2	16	6
MUT:MEN1:Met561Arg	PROT:O00255	MEN1	M	561	R	M561R	Likely pathogenic	1	1	16	9
MUT:MEN1:Phe144Cys	PROT:O00255	MEN1	F	144	C	F144C	Likely pathogenic	1	2	16	24
MUT:MEN1:Phe447Ser	PROT:O00255	MEN1	F	447	S	F447S	Likely pathogenic	1	1	16	4
MUT:MEN1:Pro12Arg	PROT:O00255	MEN1	P	12	R	P12R	Likely pathogenic	1	2	16	4
MUT:MEN1:Pro12Leu	PROT:O00255	MEN1	P	12	L	P12L	Pathogenic	1	1	16	4
MUT:MEN1:Pro277Arg	PROT:O00255	MEN1	P	277	R	P277R	Likely pathogenic	1	1	16	33
MUT:MEN1:Pro277His	PROT:O00255	MEN1	P	277	H	P277H	Pathogenic/Likely pathogenic	1	2	16	33
MUT:MEN1:Pro320Leu	PROT:O00255	MEN1	P	320	L	P320L	Pathogenic/Likely pathogenic	1	2	16	5
MUT:MEN1:Pro320Thr	PROT:O00255	MEN1	P	320	T	P320T	Likely pathogenic	1	1	16	5
MUT:MEN1:Pro32Arg	PROT:O00255	MEN1	P	32	R	P32R	Pathogenic/Likely pathogenic	1	2	16	24
MUT:MEN1:Pro373Ser	PROT:O00255	MEN1	P	373	S	P373S	Likely pathogenic	1	1	16	26
MUT:MEN1:Pro540Thr	PROT:O00255	MEN1	P	540	T	P540T	Likely benign	0	1	16	3
MUT:MEN1:Ser104Tyr	PROT:O00255	MEN1	S	104	Y	S104Y	Likely pathogenic	1	1	16	16
MUT:MEN1:Ser142Pro	PROT:O00255	MEN1	S	142	P	S142P	Likely pathogenic	1	1	16	22
MUT:MEN1:Ser253Trp	PROT:O00255	MEN1	S	253	W	S253W	Pathogenic	1	1	16	43
MUT:MEN1:Ser308Pro	PROT:O00255	MEN1	S	308	P	S308P	Likely pathogenic	1	1	16	2
MUT:MEN1:Ser38Phe	PROT:O00255	MEN1	S	38	F	S38F	Pathogenic/Likely pathogenic	1	2	16	30
MUT:MEN1:Ser38Pro	PROT:O00255	MEN1	S	38	P	S38P	Likely pathogenic	1	1	16	30
MUT:MEN1:Ser38Tyr	PROT:O00255	MEN1	S	38	Y	S38Y	Likely pathogenic	1	1	16	30
MUT:MEN1:Ser427Arg	PROT:O00255	MEN1	S	427	R	S427R	Likely pathogenic	1	2	16	11
MUT:MEN1:Ser427Ile	PROT:O00255	MEN1	S	427	I	S427I	Likely pathogenic	1	1	16	11
MUT:MEN1:Ser443Pro	PROT:O00255	MEN1	S	443	P	S443P	Pathogenic/Likely pathogenic	1	2	16	0
MUT:MEN1:Ser443Tyr	PROT:O00255	MEN1	S	443	Y	S443Y	Pathogenic	1	1	16	0
MUT:MEN1:Ser555Asn	PROT:O00255	MEN1	S	555	N	S555N	Pathogenic/Likely pathogenic	1	2	16	3
MUT:MEN1:Ser555Gly	PROT:O00255	MEN1	S	555	G	S555G	Likely pathogenic	1	1	16	3
MUT:MEN1:Thr148Pro	PROT:O00255	MEN1	T	148	P	T148P	Likely pathogenic	1	1	16	28
MUT:MEN1:Thr251Pro	PROT:O00255	MEN1	T	251	P	T251P	Likely pathogenic	1	1	16	41
MUT:MEN1:Thr344Arg	PROT:O00255	MEN1	T	344	R	T344R	Pathogenic	1	1	16	29
MUT:MEN1:Thr541Ala	PROT:O00255	MEN1	T	541	A	T541A	Benign	0	2	16	2
MUT:MEN1:Thr552Ser	PROT:O00255	MEN1	T	552	S	T552S	Pathogenic	1	1	16	0
MUT:MEN1:Trp183Cys	PROT:O00255	MEN1	W	183	C	W183C	Pathogenic	1	1	16	27
MUT:MEN1:Trp220Arg	PROT:O00255	MEN1	W	220	R	W220R	Likely pathogenic	1	1	16	10
MUT:MEN1:Trp423Arg	PROT:O00255	MEN1	W	423	R	W423R	Pathogenic/Likely pathogenic	1	2	16	15
MUT:MEN1:Trp436Arg	PROT:O00255	MEN1	W	436	R	W436R	Pathogenic/Likely pathogenic	1	2	16	2
MUT:MEN1:Trp436Cys	PROT:O00255	MEN1	W	436	C	W436C	Pathogenic/Likely pathogenic	1	2	16	2
MUT:MEN1:Tyr351Asn	PROT:O00255	MEN1	Y	351	N	Y351N	Likely pathogenic	1	1	16	36
MUT:MEN1:Tyr353Asp	PROT:O00255	MEN1	Y	353	D	Y353D	Likely pathogenic	1	1	16	38
MUT:MEN1:Val118Glu	PROT:O00255	MEN1	V	118	E	V118E	Likely pathogenic	1	1	16	2
MUT:MEN1:Val184Glu	PROT:O00255	MEN1	V	184	E	V184E	Pathogenic	1	1	16	26
MUT:MEN1:Val215Glu	PROT:O00255	MEN1	V	215	E	V215E	Likely pathogenic	1	1	16	5
MUT:MEN1:Val215Met	PROT:O00255	MEN1	V	215	M	V215M	Pathogenic/Likely pathogenic	1	1	16	5
MUT:MEN1:Val537Leu	PROT:O00255	MEN1	V	537	L	V537L	Likely benign	0	1	16	6
MUT:MEP1A:Asp365Tyr	PROT:Q16819	MEP1A	D	365	Y	D365Y	Likely benign	0	1	2	289
MUT:MERTK:Ala282Thr	PROT:Q12866	MERTK	A	282	T	A282T	Benign/Likely benign	0	16	15	176
MUT:MERTK:Ala740Val	PROT:Q12866	MERTK	A	740	V	A740V	Pathogenic	1	1	15	5
MUT:MERTK:Ala768Thr	PROT:Q12866	MERTK	A	768	T	A768T	Pathogenic/Likely pathogenic	1	2	15	3
MUT:MERTK:Ala768Val	PROT:Q12866	MERTK	A	768	V	A768V	Likely pathogenic	1	1	15	3
MUT:MERTK:Ala951Thr	PROT:Q12866	MERTK	A	951	T	A951T	Benign/Likely benign	0	1	15	16
MUT:MERTK:Arg466Lys	PROT:Q12866	MERTK	R	466	K	R466K	Benign	0	3	15	8
MUT:MERTK:Arg727Gln	PROT:Q12866	MERTK	R	727	Q	R727Q	Pathogenic/Likely pathogenic	1	2	15	18
MUT:MERTK:Arg727Gly	PROT:Q12866	MERTK	R	727	G	R727G	Likely pathogenic	1	1	15	18
MUT:MERTK:Arg844Cys	PROT:Q12866	MERTK	R	844	C	R844C	Pathogenic	1	2	15	12
MUT:MERTK:Arg844His	PROT:Q12866	MERTK	R	844	H	R844H	Pathogenic	1	2	15	12
MUT:MERTK:Asn498Ser	PROT:Q12866	MERTK	N	498	S	N498S	Benign	0	2	15	40
MUT:MERTK:Cys115Trp	PROT:Q12866	MERTK	C	115	W	C115W	Pathogenic/Likely pathogenic	1	4	15	343
MUT:MERTK:Gly743Ser	PROT:Q12866	MERTK	G	743	S	G743S	Likely pathogenic	1	1	15	2
MUT:MERTK:His721Pro	PROT:Q12866	MERTK	H	721	P	H721P	Likely pathogenic	1	1	15	24
MUT:MERTK:His971Gln	PROT:Q12866	MERTK	H	971	Q	H971Q	Likely benign	0	1	15	36
MUT:MERTK:Ile518Val	PROT:Q12866	MERTK	I	518	V	I518V	Benign	0	3	15	25
MUT:MERTK:Leu731Ser	PROT:Q12866	MERTK	L	731	S	L731S	Likely pathogenic	1	1	15	14
MUT:MERTK:Lys281Glu	PROT:Q12866	MERTK	K	281	E	K281E	Likely pathogenic	1	1	15	177
MUT:MERTK:Lys347Glu	PROT:Q12866	MERTK	K	347	E	K347E	Likely benign	0	1	15	111
MUT:MERTK:Pro409Leu	PROT:Q12866	MERTK	P	409	L	P409L	Likely benign	0	1	15	49
MUT:MERTK:Ser118Asn	PROT:Q12866	MERTK	S	118	N	S118N	Benign	0	3	15	340
MUT:MERTK:Ser428Gly	PROT:Q12866	MERTK	S	428	G	S428G	Likely benign	0	1	15	30
MUT:MERTK:Thr410Ile	PROT:Q12866	MERTK	T	410	I	T410I	Likely benign	0	1	15	48
MUT:MERTK:Trp231Ser	PROT:Q12866	MERTK	W	231	S	W231S	Likely pathogenic	1	1	15	227
MUT:MERTK:Val464Ile	PROT:Q12866	MERTK	V	464	I	V464I	Benign/Likely benign	0	1	15	6
MUT:MERTK:Val737Phe	PROT:Q12866	MERTK	V	737	F	V737F	Likely pathogenic	1	1	15	8
MUT:MERTK:Val870Ile	PROT:Q12866	MERTK	V	870	I	V870I	Benign	0	3	15	2
MUT:MEX3B:Ser488Leu	PROT:Q6ZN04	MEX3B	S	488	L	S488L	Likely benign	0	1	8	11
MUT:MFF:Arg128Gln	PROT:Q9GZY8	MFF	R	128	Q	R128Q	Likely benign	0	1	17	9
MUT:MFF:Pro31Leu	PROT:Q9GZY8	MFF	P	31	L	P31L	Benign/Likely benign	0	1	17	4
MUT:MFF:Ser67Pro	PROT:Q9GZY8	MFF	S	67	P	S67P	Likely benign	0	1	17	7
MUT:MFHAS1:Ala846Gly	PROT:Q9Y4C4	MFHAS1	A	846	G	A846G	Likely benign	0	5	8	187
MUT:MFHAS1:Pro79Arg	PROT:Q9Y4C4	MFHAS1	P	79	R	P79R	Benign	0	4	8	308
MUT:MGAM:Arg401Cys	PROT:O43451	MGAM	R	401	C	R401C	Likely benign	0	1	3	384
MUT:MGAM:Arg637Ser	PROT:O43451	MGAM	R	637	S	R637S	Likely benign	0	1	3	620
MUT:MGAM:Asp391Asn	PROT:O43451	MGAM	D	391	N	D391N	Likely benign	0	1	3	374
MUT:MGAM:Ile2679Val	PROT:O43451	MGAM	I	2679	V	I2679V	Likely benign	0	1	3	1389
MUT:MGAM:Thr2748Met	PROT:O43451	MGAM	T	2748	M	T2748M	Likely benign	0	1	3	1458
MUT:MGAT1:Arg223Gln	PROT:P26572	MGAT1	R	223	Q	R223Q	Benign	0	3	1	176
MUT:MGAT2:Asn318Asp	PROT:Q10469	MGAT2	N	318	D	N318D	Pathogenic	1	1	2	17
MUT:MGAT2:Asp267His	PROT:Q10469	MGAT2	D	267	H	D267H	Pathogenic	1	1	2	34
MUT:MGAT2:His262Arg	PROT:Q10469	MGAT2	H	262	R	H262R	Pathogenic	1	1	2	39
MUT:MGAT2:Lys237Asn	PROT:Q10469	MGAT2	K	237	N	K237N	Likely pathogenic	1	1	2	30
MUT:MIA2:Ala775Val	PROT:Q96PC5	MIA2	A	775	V	A775V	Likely benign	0	1	16	123
MUT:MIA2:Asn981Ser	PROT:Q96PC5	MIA2	N	981	S	N981S	Likely benign	0	1	16	329
MUT:MIB1:Asn784Ser	PROT:Q86YT6	MIB1	N	784	S	N784S	Likely benign	0	1	27	3
MUT:MIB1:Ile479Val	PROT:Q86YT6	MIB1	I	479	V	I479V	Likely benign	0	1	27	27
MUT:MICALL2:Pro284Arg	PROT:Q8IY33	MICALL2	P	284	R	P284R	Pathogenic	1	1	20	10
MUT:MICB:Ala300Val	PROT:Q29980	MICB	A	300	V	A300V	Likely benign	0	3	6	34
MUT:MICU2:Ala47Pro	PROT:Q8IYU8	MICU2	A	47	P	A47P	Likely benign	0	1	9	35
MUT:MICU2:Lys306Met	PROT:Q8IYU8	MICU2	K	306	M	K306M	Likely benign	0	1	9	80
MUT:MID1:Ala108Thr	PROT:O15344	MID1	A	108	T	A108T	Likely benign	0	1	19	2
MUT:MID1:Ala130Thr	PROT:O15344	MID1	A	130	T	A130T	Pathogenic/Likely pathogenic	1	1	19	20
MUT:MID1:Ala34Thr	PROT:O15344	MID1	A	34	T	A34T	Benign	0	1	19	32
MUT:MID1:Ala465Pro	PROT:O15344	MID1	A	465	P	A465P	Pathogenic	1	1	19	35
MUT:MID1:Ala598Val	PROT:O15344	MID1	A	598	V	A598V	Benign/Likely benign	0	1	19	70
MUT:MID1:Arg521Cys	PROT:O15344	MID1	R	521	C	R521C	Benign/Likely benign	0	2	19	7
MUT:MID1:Asn612Ser	PROT:O15344	MID1	N	612	S	N612S	Benign/Likely benign	0	1	19	84
MUT:MID1:Gly556Asp	PROT:O15344	MID1	G	556	D	G556D	Pathogenic	1	1	19	28
MUT:MID1:Gly605Val	PROT:O15344	MID1	G	605	V	G605V	Likely pathogenic	1	1	19	77
MUT:MID1:Leu244Pro	PROT:O15344	MID1	L	244	P	L244P	Likely pathogenic	1	1	19	12
MUT:MID1:Leu295Pro	PROT:O15344	MID1	L	295	P	L295P	Pathogenic	1	1	19	16
MUT:MID1:Leu626Pro	PROT:O15344	MID1	L	626	P	L626P	Pathogenic	1	1	19	98
MUT:MID1:Leu648Pro	PROT:O15344	MID1	L	648	P	L648P	Likely pathogenic	1	1	19	120
MUT:MID1:Thr642Pro	PROT:O15344	MID1	T	642	P	T642P	Likely pathogenic	1	1	19	114
MUT:MID1:Tyr448His	PROT:O15344	MID1	Y	448	H	Y448H	Likely pathogenic	1	1	19	52
MUT:MID1:Val631Ile	PROT:O15344	MID1	V	631	I	V631I	Likely benign	0	1	19	103
MUT:MID2:Arg347Gln	PROT:Q9UJV3	MID2	R	347	Q	R347Q	Likely pathogenic	1	1	2	183
MUT:MID2:Asn343Ser	PROT:Q9UJV3	MID2	N	343	S	N343S	Benign	0	1	2	187
MUT:MIDN:Ala218Thr	PROT:Q504T8	MIDN	A	218	T	A218T	Likely benign	0	1	3	136
MUT:MIDN:Ala291Val	PROT:Q504T8	MIDN	A	291	V	A291V	Likely benign	0	1	3	63
MUT:MINPP1:Ala284Asp	PROT:Q9UNW1	MINPP1	A	284	D	A284D	Likely pathogenic	1	1	2	31
MUT:MINPP1:Gln270Arg	PROT:Q9UNW1	MINPP1	Q	270	R	Q270R	Pathogenic	1	1	2	45
MUT:MINPP1:Ser41Leu	PROT:Q9UNW1	MINPP1	S	41	L	S41L	Pathogenic	1	1	2	9
MUT:MINPP1:Tyr53Asp	PROT:Q9UNW1	MINPP1	Y	53	D	Y53D	Likely pathogenic	1	1	2	3
MUT:MIP:Arg33Cys	PROT:P30301	MIP	R	33	C	R33C	Pathogenic	1	3	3	196
MUT:MIP:Arg33His	PROT:P30301	MIP	R	33	H	R33H	Likely benign	0	1	3	196
MUT:MIP:Glu134Gly	PROT:P30301	MIP	E	134	G	E134G	Pathogenic	1	1	3	95
MUT:MIP:Gly165Asp	PROT:P30301	MIP	G	165	D	G165D	Likely pathogenic	1	1	3	64
MUT:MIP:Thr138Arg	PROT:P30301	MIP	T	138	R	T138R	Pathogenic	1	1	3	91
MUT:MIP:Val107Ile	PROT:P30301	MIP	V	107	I	V107I	Benign/Likely benign	0	1	3	122
MUT:MIP:Val164Ile	PROT:P30301	MIP	V	164	I	V164I	Likely benign	0	2	3	65
MUT:MIP:Val67Ile	PROT:P30301	MIP	V	67	I	V67I	Benign	0	1	3	162
MUT:MIPEP:Ala659Ser	PROT:Q99797	MIPEP	A	659	S	A659S	Likely benign	0	1	5	80
MUT:MIPEP:Arg340Gln	PROT:Q99797	MIPEP	R	340	Q	R340Q	Benign	0	1	5	11
MUT:MIPEP:Arg476His	PROT:Q99797	MIPEP	R	476	H	R476H	Likely benign	0	1	5	34
MUT:MIPEP:Arg62Cys	PROT:Q99797	MIPEP	R	62	C	R62C	Likely benign	0	1	5	85
MUT:MIPEP:Arg94Cys	PROT:Q99797	MIPEP	R	94	C	R94C	Benign	0	1	5	53
MUT:MIPEP:Asp120Asn	PROT:Q99797	MIPEP	D	120	N	D120N	Likely pathogenic	1	1	5	27
MUT:MIPEP:Gly297Ala	PROT:Q99797	MIPEP	G	297	A	G297A	Likely pathogenic	1	1	5	28
MUT:MIPEP:Leu420Pro	PROT:Q99797	MIPEP	L	420	P	L420P	Likely pathogenic	1	1	5	90
MUT:MIPEP:Ser288Arg	PROT:Q99797	MIPEP	S	288	R	S288R	Benign/Likely benign	0	2	5	37
MUT:MIPEP:Ser488Gly	PROT:Q99797	MIPEP	S	488	G	S488G	Benign	0	1	5	22
MUT:MIPEP:Val353Leu	PROT:Q99797	MIPEP	V	353	L	V353L	Likely benign	0	1	5	24
MUT:MIS18BP1:Asp529Gly	PROT:Q6P0N0	MIS18BP1	D	529	G	D529G	Benign	0	2	68	5
MUT:MISP:Arg303His	PROT:Q8IVT2	MISP	R	303	H	R303H	Likely benign	0	1	51	12
MUT:MITF:Arg310Gly	PROT:O75030	MITF	R	310	G	R310G	Likely pathogenic	1	1	12	2
MUT:MITF:Arg321Gly	PROT:O75030	MITF	R	321	G	R321G	Likely pathogenic	1	1	12	13
MUT:MITF:Arg321Leu	PROT:O75030	MITF	R	321	L	R321L	Likely pathogenic	1	1	12	13
MUT:MITF:Arg324Gly	PROT:O75030	MITF	R	324	G	R324G	Pathogenic	1	2	12	16
MUT:MITF:Arg324Lys	PROT:O75030	MITF	R	324	K	R324K	Pathogenic	1	1	12	16
MUT:MITF:Asn317Lys	PROT:O75030	MITF	N	317	K	N317K	Pathogenic	1	2	12	9
MUT:MITF:Asn328Lys	PROT:O75030	MITF	N	328	K	N328K	Likely pathogenic	1	1	12	20
MUT:MITF:Asn468Ser	PROT:O75030	MITF	N	468	S	N468S	Likely benign	0	1	12	17
MUT:MITF:Glu208Gly	PROT:O75030	MITF	E	208	G	E208G	Likely benign	0	2	12	28
MUT:MITF:Glu309Lys	PROT:O75030	MITF	E	309	K	E309K	Likely pathogenic	1	1	12	1
MUT:MITF:Glu320Gly	PROT:O75030	MITF	E	320	G	E320G	Pathogenic	1	1	12	12
MUT:MITF:Gly351Arg	PROT:O75030	MITF	G	351	R	G351R	Likely pathogenic	1	1	12	6
MUT:MITF:Gly351Glu	PROT:O75030	MITF	G	351	E	G351E	Likely pathogenic	1	2	12	6
MUT:MITF:His316Asp	PROT:O75030	MITF	H	316	D	H316D	Pathogenic	1	1	12	8
MUT:MITF:Ile319Met	PROT:O75030	MITF	I	319	M	I319M	Likely pathogenic	1	1	12	11
MUT:MITF:Ile319Ser	PROT:O75030	MITF	I	319	S	I319S	Likely pathogenic	1	1	12	11
MUT:MITF:Ile327Thr	PROT:O75030	MITF	I	327	T	I327T	Likely pathogenic	1	1	12	19
MUT:MITF:Leu244Pro	PROT:O75030	MITF	L	244	P	L244P	Likely pathogenic	1	1	12	54
MUT:MITF:Leu318Pro	PROT:O75030	MITF	L	318	P	L318P	Pathogenic/Likely pathogenic	1	1	12	10
MUT:MITF:Leu334Arg	PROT:O75030	MITF	L	334	R	L334R	Likely pathogenic	1	1	12	23
MUT:MITF:Leu461Ile	PROT:O75030	MITF	L	461	I	L461I	Benign	0	3	12	24
MUT:MITF:Lys313Asn	PROT:O75030	MITF	K	313	N	K313N	Pathogenic	1	2	12	5
MUT:MITF:Met1Val	PROT:O75030	MITF	M	1	V	M1V	Likely pathogenic	1	1	12	156
MUT:MITF:Ser357Pro	PROT:O75030	MITF	S	357	P	S357P	Pathogenic	1	1	12	0
MUT:MITF:Ser357Tyr	PROT:O75030	MITF	S	357	Y	S357Y	Likely pathogenic	1	1	12	0
MUT:MITF:Thr525Ala	PROT:O75030	MITF	T	525	A	T525A	Benign/Likely benign	0	4	12	23
MUT:MITF:Tyr265Cys	PROT:O75030	MITF	Y	265	C	Y265C	Likely pathogenic	1	1	12	33
MUT:MITF:Tyr360Ser	PROT:O75030	MITF	Y	360	S	Y360S	Likely pathogenic	1	1	12	0
MUT:MITF:Val427Ala	PROT:O75030	MITF	V	427	A	V427A	Benign/Likely benign	0	4	12	22
MUT:MKRN3:Arg184Thr	PROT:Q13064	MKRN3	R	184	T	R184T	Likely benign	0	1	7	49
MUT:MKRN3:Arg189Leu	PROT:Q13064	MKRN3	R	189	L	R189L	Likely benign	0	1	7	44
MUT:MKRN3:Arg328Cys	PROT:Q13064	MKRN3	R	328	C	R328C	Pathogenic	1	1	7	33
MUT:MKRN3:Arg365Ser	PROT:Q13064	MKRN3	R	365	S	R365S	Pathogenic	1	1	7	19
MUT:MKRN3:Asn325Ser	PROT:Q13064	MKRN3	N	325	S	N325S	Likely benign	0	1	7	30
MUT:MKRN3:Cys109Tyr	PROT:Q13064	MKRN3	C	109	Y	C109Y	Likely pathogenic	1	1	7	124
MUT:MKRN3:Pro152Leu	PROT:Q13064	MKRN3	P	152	L	P152L	Likely benign	0	1	7	81
MUT:MKRN3:Ser472Asn	PROT:Q13064	MKRN3	S	472	N	S472N	Likely benign	0	1	7	4
MUT:MKRN3:Val358Ile	PROT:Q13064	MKRN3	V	358	I	V358I	Likely benign	0	1	7	26
MUT:MLH1:Ala111Asp	PROT:P40692	MLH1	A	111	D	A111D	Likely pathogenic	1	1	50	12
MUT:MLH1:Ala111Val	PROT:P40692	MLH1	A	111	V	A111V	Likely pathogenic	1	5	50	12
MUT:MLH1:Ala125Glu	PROT:P40692	MLH1	A	125	E	A125E	Pathogenic/Likely pathogenic	1	4	50	2
MUT:MLH1:Ala128Pro	PROT:P40692	MLH1	A	128	P	A128P	Pathogenic	1	2	50	5
MUT:MLH1:Ala21Glu	PROT:P40692	MLH1	A	21	E	A21E	Pathogenic	1	3	50	12
MUT:MLH1:Ala21Gly	PROT:P40692	MLH1	A	21	G	A21G	Likely pathogenic	1	1	50	12
MUT:MLH1:Ala21Pro	PROT:P40692	MLH1	A	21	P	A21P	Likely pathogenic	1	1	50	12
MUT:MLH1:Ala21Val	PROT:P40692	MLH1	A	21	V	A21V	Pathogenic	1	4	50	12
MUT:MLH1:Ala239Val	PROT:P40692	MLH1	A	239	V	A239V	Likely benign	0	1	50	2
MUT:MLH1:Ala281Val	PROT:P40692	MLH1	A	281	V	A281V	Pathogenic	1	3	50	7
MUT:MLH1:Ala282Gly	PROT:P40692	MLH1	A	282	G	A282G	Likely benign	0	3	50	6
MUT:MLH1:Ala29Gly	PROT:P40692	MLH1	A	29	G	A29G	Pathogenic	1	4	50	4
MUT:MLH1:Ala441Thr	PROT:P40692	MLH1	A	441	T	A441T	Benign	0	8	50	2
MUT:MLH1:Ala539Asp	PROT:P40692	MLH1	A	539	D	A539D	Likely pathogenic	1	5	50	31
MUT:MLH1:Ala539Pro	PROT:P40692	MLH1	A	539	P	A539P	Likely pathogenic	1	1	50	31
MUT:MLH1:Ala586Asp	PROT:P40692	MLH1	A	586	D	A586D	Pathogenic/Likely pathogenic	1	3	50	78
MUT:MLH1:Ala589Asp	PROT:P40692	MLH1	A	589	D	A589D	Likely pathogenic	1	3	50	81
MUT:MLH1:Ala619Pro	PROT:P40692	MLH1	A	619	P	A619P	Likely pathogenic	1	4	50	69
MUT:MLH1:Ala681Pro	PROT:P40692	MLH1	A	681	P	A681P	Pathogenic/Likely pathogenic	1	2	50	7
MUT:MLH1:Ala681Thr	PROT:P40692	MLH1	A	681	T	A681T	Pathogenic	1	7	50	7
MUT:MLH1:Ala681Val	PROT:P40692	MLH1	A	681	V	A681V	Pathogenic/Likely pathogenic	1	3	50	7
MUT:MLH1:Arg100Pro	PROT:P40692	MLH1	R	100	P	R100P	Pathogenic	1	4	50	13
MUT:MLH1:Arg127Ile	PROT:P40692	MLH1	R	127	I	R127I	Pathogenic/Likely pathogenic	1	3	50	4
MUT:MLH1:Arg127Lys	PROT:P40692	MLH1	R	127	K	R127K	Pathogenic	1	4	50	4
MUT:MLH1:Arg127Thr	PROT:P40692	MLH1	R	127	T	R127T	Pathogenic/Likely pathogenic	1	2	50	4
MUT:MLH1:Arg182Gly	PROT:P40692	MLH1	R	182	G	R182G	Pathogenic	1	3	50	1
MUT:MLH1:Arg182Lys	PROT:P40692	MLH1	R	182	K	R182K	Pathogenic	1	4	50	1
MUT:MLH1:Arg226Gln	PROT:P40692	MLH1	R	226	Q	R226Q	Pathogenic	1	8	50	10
MUT:MLH1:Arg226Leu	PROT:P40692	MLH1	R	226	L	R226L	Likely pathogenic	1	6	50	10
MUT:MLH1:Arg265Cys	PROT:P40692	MLH1	R	265	C	R265C	Pathogenic	1	6	50	4
MUT:MLH1:Arg265Gly	PROT:P40692	MLH1	R	265	G	R265G	Pathogenic/Likely pathogenic	1	4	50	4
MUT:MLH1:Arg265Pro	PROT:P40692	MLH1	R	265	P	R265P	Likely pathogenic	1	4	50	4
MUT:MLH1:Arg265Ser	PROT:P40692	MLH1	R	265	S	R265S	Pathogenic	1	6	50	4
MUT:MLH1:Arg265Val	PROT:P40692	MLH1	R	265	V	R265V	Pathogenic	1	1	50	4
MUT:MLH1:Arg325Gln	PROT:P40692	MLH1	R	325	Q	R325Q	Likely benign	0	6	50	8
MUT:MLH1:Arg423Gly	PROT:P40692	MLH1	R	423	G	R423G	Likely benign	0	1	50	7
MUT:MLH1:Arg659Leu	PROT:P40692	MLH1	R	659	L	R659L	Pathogenic	1	4	50	29
MUT:MLH1:Arg659Pro	PROT:P40692	MLH1	R	659	P	R659P	Pathogenic	1	5	50	29
MUT:MLH1:Arg687Trp	PROT:P40692	MLH1	R	687	W	R687W	Pathogenic	1	8	50	1
MUT:MLH1:Arg755Gly	PROT:P40692	MLH1	R	755	G	R755G	Pathogenic	1	1	50	4
MUT:MLH1:Asn306Asp	PROT:P40692	MLH1	N	306	D	N306D	Likely pathogenic	1	1	50	11
MUT:MLH1:Asn306Lys	PROT:P40692	MLH1	N	306	K	N306K	Pathogenic	1	4	50	11
MUT:MLH1:Asn38His	PROT:P40692	MLH1	N	38	H	N38H	Pathogenic	1	5	50	5
MUT:MLH1:Asn38Lys	PROT:P40692	MLH1	N	38	K	N38K	Pathogenic	1	5	50	5
MUT:MLH1:Asn38Ser	PROT:P40692	MLH1	N	38	S	N38S	Pathogenic	1	3	50	5
MUT:MLH1:Asn38Tyr	PROT:P40692	MLH1	N	38	Y	N38Y	Pathogenic/Likely pathogenic	1	2	50	5
MUT:MLH1:Asn551Ser	PROT:P40692	MLH1	N	551	S	N551S	Benign	0	5	50	43
MUT:MLH1:Asp132His	PROT:P40692	MLH1	D	132	H	D132H	Benign	0	6	50	2
MUT:MLH1:Asp304Val	PROT:P40692	MLH1	D	304	V	D304V	Likely pathogenic	1	4	50	9
MUT:MLH1:Asp41Asn	PROT:P40692	MLH1	D	41	N	D41N	Likely pathogenic	1	1	50	8
MUT:MLH1:Asp41Gly	PROT:P40692	MLH1	D	41	G	D41G	Pathogenic	1	4	50	8
MUT:MLH1:Asp41His	PROT:P40692	MLH1	D	41	H	D41H	Pathogenic	1	3	50	8
MUT:MLH1:Asp41Tyr	PROT:P40692	MLH1	D	41	Y	D41Y	Likely pathogenic	1	3	50	8
MUT:MLH1:Asp41Val	PROT:P40692	MLH1	D	41	V	D41V	Pathogenic/Likely pathogenic	1	3	50	8
MUT:MLH1:Asp567Phe	PROT:P40692	MLH1	D	567	F	D567F	Likely pathogenic	1	1	50	59
MUT:MLH1:Asp63Asn	PROT:P40692	MLH1	D	63	N	D63N	Pathogenic/Likely pathogenic	1	4	50	6
MUT:MLH1:Asp63Glu	PROT:P40692	MLH1	D	63	E	D63E	Pathogenic	1	2	50	6
MUT:MLH1:Asp63His	PROT:P40692	MLH1	D	63	H	D63H	Pathogenic/Likely pathogenic	1	3	50	6
MUT:MLH1:Asp63Val	PROT:P40692	MLH1	D	63	V	D63V	Pathogenic/Likely pathogenic	1	2	50	6
MUT:MLH1:Cys680Arg	PROT:P40692	MLH1	C	680	R	C680R	Likely pathogenic	1	5	50	8
MUT:MLH1:Cys77Arg	PROT:P40692	MLH1	C	77	R	C77R	Pathogenic	1	3	50	7
MUT:MLH1:Cys77Tyr	PROT:P40692	MLH1	C	77	Y	C77Y	Pathogenic	1	4	50	7
MUT:MLH1:Gln346Arg	PROT:P40692	MLH1	Q	346	R	Q346R	Pathogenic	1	2	50	13
MUT:MLH1:Gln346His	PROT:P40692	MLH1	Q	346	H	Q346H	Pathogenic	1	3	50	13
MUT:MLH1:Gln48Pro	PROT:P40692	MLH1	Q	48	P	Q48P	Likely pathogenic	1	4	50	9
MUT:MLH1:Gln542Pro	PROT:P40692	MLH1	Q	542	P	Q542P	Likely pathogenic	1	1	50	34
MUT:MLH1:Gln562Glu	PROT:P40692	MLH1	Q	562	E	Q562E	Likely pathogenic	1	1	50	54
MUT:MLH1:Gln689Arg	PROT:P40692	MLH1	Q	689	R	Q689R	Benign	0	7	50	1
MUT:MLH1:Gln701His	PROT:P40692	MLH1	Q	701	H	Q701H	Pathogenic	1	5	50	13
MUT:MLH1:Gln701Lys	PROT:P40692	MLH1	Q	701	K	Q701K	Likely benign	0	7	50	13
MUT:MLH1:Glu102Asp	PROT:P40692	MLH1	E	102	D	E102D	Pathogenic	1	7	50	15
MUT:MLH1:Glu102Lys	PROT:P40692	MLH1	E	102	K	E102K	Likely pathogenic	1	6	50	15
MUT:MLH1:Glu172Lys	PROT:P40692	MLH1	E	172	K	E172K	Likely pathogenic	1	1	50	3
MUT:MLH1:Glu268Gly	PROT:P40692	MLH1	E	268	G	E268G	Benign	0	8	50	1
MUT:MLH1:Glu34Ala	PROT:P40692	MLH1	E	34	A	E34A	Likely pathogenic	1	1	50	1
MUT:MLH1:Glu37Gly	PROT:P40692	MLH1	E	37	G	E37G	Pathogenic/Likely pathogenic	1	4	50	4
MUT:MLH1:Glu37Lys	PROT:P40692	MLH1	E	37	K	E37K	Pathogenic/Likely pathogenic	1	4	50	4
MUT:MLH1:Glu578Gly	PROT:P40692	MLH1	E	578	G	E578G	Benign	0	5	50	70
MUT:MLH1:Glu600Gly	PROT:P40692	MLH1	E	600	G	E600G	Benign	0	1	50	88
MUT:MLH1:Glu663Asp	PROT:P40692	MLH1	E	663	D	E663D	Pathogenic	1	4	50	25
MUT:MLH1:Gly101Arg	PROT:P40692	MLH1	G	101	R	G101R	Likely pathogenic	1	2	50	14
MUT:MLH1:Gly101Asp	PROT:P40692	MLH1	G	101	D	G101D	Likely pathogenic	1	4	50	14
MUT:MLH1:Gly101Cys	PROT:P40692	MLH1	G	101	C	G101C	Likely pathogenic	1	1	50	14
MUT:MLH1:Gly101Ser	PROT:P40692	MLH1	G	101	S	G101S	Likely pathogenic	1	4	50	14
MUT:MLH1:Gly147Glu	PROT:P40692	MLH1	G	147	E	G147E	Likely pathogenic	1	3	50	7
MUT:MLH1:Gly22Ala	PROT:P40692	MLH1	G	22	A	G22A	Benign	0	7	50	11
MUT:MLH1:Gly244Arg	PROT:P40692	MLH1	G	244	R	G244R	Likely pathogenic	1	1	50	3
MUT:MLH1:Gly244Asp	PROT:P40692	MLH1	G	244	D	G244D	Pathogenic	1	5	50	3
MUT:MLH1:Gly65Arg	PROT:P40692	MLH1	G	65	R	G65R	Likely pathogenic	1	1	50	5
MUT:MLH1:Gly65Asp	PROT:P40692	MLH1	G	65	D	G65D	Likely pathogenic	1	4	50	5
MUT:MLH1:Gly65Cys	PROT:P40692	MLH1	G	65	C	G65C	Likely pathogenic	1	1	50	5
MUT:MLH1:Gly65Ser	PROT:P40692	MLH1	G	65	S	G65S	Likely pathogenic	1	1	50	5
MUT:MLH1:Gly67Arg	PROT:P40692	MLH1	G	67	R	G67R	Pathogenic	1	7	50	3
MUT:MLH1:Gly67Glu	PROT:P40692	MLH1	G	67	E	G67E	Pathogenic	1	4	50	3
MUT:MLH1:Gly67Trp	PROT:P40692	MLH1	G	67	W	G67W	Pathogenic	1	4	50	3
MUT:MLH1:Gly98Phe	PROT:P40692	MLH1	G	98	F	G98F	Pathogenic/Likely pathogenic	1	3	50	11
MUT:MLH1:His308Pro	PROT:P40692	MLH1	H	308	P	H308P	Likely pathogenic	1	4	50	13
MUT:MLH1:His329Pro	PROT:P40692	MLH1	H	329	P	H329P	Pathogenic	1	4	50	4
MUT:MLH1:His718Pro	PROT:P40692	MLH1	H	718	P	H718P	Likely pathogenic	1	4	50	14
MUT:MLH1:His718Tyr	PROT:P40692	MLH1	H	718	Y	H718Y	Benign	0	8	50	14
MUT:MLH1:His733Tyr	PROT:P40692	MLH1	H	733	Y	H733Y	Likely benign	0	3	50	1
MUT:MLH1:Ile107Arg	PROT:P40692	MLH1	I	107	R	I107R	Pathogenic	1	2	50	16
MUT:MLH1:Ile107Lys	PROT:P40692	MLH1	I	107	K	I107K	Pathogenic/Likely pathogenic	1	2	50	16
MUT:MLH1:Ile19Phe	PROT:P40692	MLH1	I	19	F	I19F	Pathogenic	1	6	50	14
MUT:MLH1:Ile219Leu	PROT:P40692	MLH1	I	219	L	I219L	Benign	0	1	50	7
MUT:MLH1:Ile219Val	PROT:P40692	MLH1	I	219	V	I219V	Benign	0	7	50	7
MUT:MLH1:Ile25Phe	PROT:P40692	MLH1	I	25	F	I25F	Likely pathogenic	1	1	50	8
MUT:MLH1:Ile276Arg	PROT:P40692	MLH1	I	276	R	I276R	Pathogenic	1	3	50	7
MUT:MLH1:Ile32Asn	PROT:P40692	MLH1	I	32	N	I32N	Likely pathogenic	1	1	50	1
MUT:MLH1:Ile655Val	PROT:P40692	MLH1	I	655	V	I655V	Likely benign	0	6	50	33
MUT:MLH1:Ile68Asn	PROT:P40692	MLH1	I	68	N	I68N	Likely pathogenic	1	1	50	2
MUT:MLH1:Ile68Ser	PROT:P40692	MLH1	I	68	S	I68S	Likely pathogenic	1	1	50	2
MUT:MLH1:Leu155Arg	PROT:P40692	MLH1	L	155	R	L155R	Pathogenic	1	4	50	9
MUT:MLH1:Leu260Arg	PROT:P40692	MLH1	L	260	R	L260R	Pathogenic	1	2	50	9
MUT:MLH1:Leu292Pro	PROT:P40692	MLH1	L	292	P	L292P	Pathogenic/Likely pathogenic	1	3	50	1
MUT:MLH1:Leu550Arg	PROT:P40692	MLH1	L	550	R	L550R	Likely pathogenic	1	1	50	42
MUT:MLH1:Leu550Pro	PROT:P40692	MLH1	L	550	P	L550P	Pathogenic	1	4	50	42
MUT:MLH1:Leu555Arg	PROT:P40692	MLH1	L	555	R	L555R	Pathogenic/Likely pathogenic	1	3	50	47
MUT:MLH1:Leu555Pro	PROT:P40692	MLH1	L	555	P	L555P	Likely pathogenic	1	3	50	47
MUT:MLH1:Leu559Pro	PROT:P40692	MLH1	L	559	P	L559P	Likely pathogenic	1	4	50	51
MUT:MLH1:Leu574Pro	PROT:P40692	MLH1	L	574	P	L574P	Likely pathogenic	1	3	50	66
MUT:MLH1:Leu582Arg	PROT:P40692	MLH1	L	582	R	L582R	Likely pathogenic	1	2	50	74
MUT:MLH1:Leu582Pro	PROT:P40692	MLH1	L	582	P	L582P	Pathogenic	1	2	50	74
MUT:MLH1:Leu585Arg	PROT:P40692	MLH1	L	585	R	L585R	Likely pathogenic	1	1	50	77
MUT:MLH1:Leu607His	PROT:P40692	MLH1	L	607	H	L607H	Likely benign	0	7	50	81
MUT:MLH1:Leu615Pro	PROT:P40692	MLH1	L	615	P	L615P	Likely pathogenic	1	1	50	73
MUT:MLH1:Leu622Arg	PROT:P40692	MLH1	L	622	R	L622R	Likely pathogenic	1	2	50	66
MUT:MLH1:Leu622His	PROT:P40692	MLH1	L	622	H	L622H	Pathogenic	1	5	50	66
MUT:MLH1:Leu622Pro	PROT:P40692	MLH1	L	622	P	L622P	Pathogenic	1	3	50	66
MUT:MLH1:Leu636Gly	PROT:P40692	MLH1	L	636	G	L636G	Likely pathogenic	1	1	50	52
MUT:MLH1:Leu653Arg	PROT:P40692	MLH1	L	653	R	L653R	Likely pathogenic	1	4	50	35
MUT:MLH1:Leu653Pro	PROT:P40692	MLH1	L	653	P	L653P	Pathogenic/Likely pathogenic	1	2	50	35
MUT:MLH1:Leu676Arg	PROT:P40692	MLH1	L	676	R	L676R	Likely pathogenic	1	2	50	12
MUT:MLH1:Leu73Arg	PROT:P40692	MLH1	L	73	R	L73R	Pathogenic/Likely pathogenic	1	5	50	3
MUT:MLH1:Leu73Pro	PROT:P40692	MLH1	L	73	P	L73P	Likely pathogenic	1	3	50	3
MUT:MLH1:Leu749Pro	PROT:P40692	MLH1	L	749	P	L749P	Pathogenic	1	7	50	2
MUT:MLH1:Leu749Val	PROT:P40692	MLH1	L	749	V	L749V	Likely pathogenic	1	1	50	2
MUT:MLH1:Leu85Pro	PROT:P40692	MLH1	L	85	P	L85P	Likely pathogenic	1	1	50	1
MUT:MLH1:Lys311Arg	PROT:P40692	MLH1	K	311	R	K311R	Likely pathogenic	1	1	50	16
MUT:MLH1:Lys311Glu	PROT:P40692	MLH1	K	311	E	K311E	Likely pathogenic	1	5	50	16
MUT:MLH1:Lys311Met	PROT:P40692	MLH1	K	311	M	K311M	Likely pathogenic	1	1	50	16
MUT:MLH1:Lys618Ala	PROT:P40692	MLH1	K	618	A	K618A	Benign	0	8	50	70
MUT:MLH1:Lys618Arg	PROT:P40692	MLH1	K	618	R	K618R	Likely benign	0	5	50	70
MUT:MLH1:Lys618Thr	PROT:P40692	MLH1	K	618	T	K618T	Benign	0	7	50	70
MUT:MLH1:Lys751Arg	PROT:P40692	MLH1	K	751	R	K751R	Likely benign	0	8	50	0
MUT:MLH1:Lys84Gln	PROT:P40692	MLH1	K	84	Q	K84Q	Likely pathogenic	1	1	50	0
MUT:MLH1:Lys84Glu	PROT:P40692	MLH1	K	84	E	K84E	Likely pathogenic	1	5	50	0
MUT:MLH1:Met1Arg	PROT:P40692	MLH1	M	1	R	M1R	Pathogenic	1	2	50	1
MUT:MLH1:Met1Ile	PROT:P40692	MLH1	M	1	I	M1I	Pathogenic	1	6	50	1
MUT:MLH1:Met1Leu	PROT:P40692	MLH1	M	1	L	M1L	Likely pathogenic	1	2	50	1
MUT:MLH1:Met1Lys	PROT:P40692	MLH1	M	1	K	M1K	Pathogenic	1	2	50	1
MUT:MLH1:Met1Thr	PROT:P40692	MLH1	M	1	T	M1T	Pathogenic	1	4	50	1
MUT:MLH1:Met1Val	PROT:P40692	MLH1	M	1	V	M1V	Pathogenic	1	4	50	1
MUT:MLH1:Met359Val	PROT:P40692	MLH1	M	359	V	M359V	Likely benign	0	1	50	18
MUT:MLH1:Met35Arg	PROT:P40692	MLH1	M	35	R	M35R	Pathogenic	1	4	50	2
MUT:MLH1:Met35Asn	PROT:P40692	MLH1	M	35	N	M35N	Pathogenic	1	3	50	2
MUT:MLH1:Met35Lys	PROT:P40692	MLH1	M	35	K	M35K	Likely pathogenic	1	2	50	2
MUT:MLH1:Phe683Ser	PROT:P40692	MLH1	F	683	S	F683S	Likely pathogenic	1	5	50	5
MUT:MLH1:Phe683Val	PROT:P40692	MLH1	F	683	V	F683V	Likely pathogenic	1	1	50	5
MUT:MLH1:Phe753Ser	PROT:P40692	MLH1	F	753	S	F753S	Likely pathogenic	1	1	50	2
MUT:MLH1:Phe80Ile	PROT:P40692	MLH1	F	80	I	F80I	Likely pathogenic	1	1	50	4
MUT:MLH1:Phe80Val	PROT:P40692	MLH1	F	80	V	F80V	Likely pathogenic	1	3	50	4
MUT:MLH1:Phe99Ser	PROT:P40692	MLH1	F	99	S	F99S	Likely pathogenic	1	1	50	12
MUT:MLH1:Pro28Arg	PROT:P40692	MLH1	P	28	R	P28R	Likely pathogenic	1	1	50	5
MUT:MLH1:Pro28Leu	PROT:P40692	MLH1	P	28	L	P28L	Pathogenic	1	5	50	5
MUT:MLH1:Pro581Leu	PROT:P40692	MLH1	P	581	L	P581L	Likely benign	0	6	50	73
MUT:MLH1:Pro603Arg	PROT:P40692	MLH1	P	603	R	P603R	Likely benign	0	7	50	85
MUT:MLH1:Pro640Arg	PROT:P40692	MLH1	P	640	R	P640R	Pathogenic/Likely pathogenic	1	2	50	48
MUT:MLH1:Pro640His	PROT:P40692	MLH1	P	640	H	P640H	Likely pathogenic	1	1	50	48
MUT:MLH1:Pro640Leu	PROT:P40692	MLH1	P	640	L	P640L	Likely pathogenic	1	4	50	48
MUT:MLH1:Pro640Ser	PROT:P40692	MLH1	P	640	S	P640S	Likely pathogenic	1	6	50	48
MUT:MLH1:Pro640Thr	PROT:P40692	MLH1	P	640	T	P640T	Pathogenic/Likely pathogenic	1	3	50	48
MUT:MLH1:Pro648Arg	PROT:P40692	MLH1	P	648	R	P648R	Likely pathogenic	1	2	50	40
MUT:MLH1:Pro648His	PROT:P40692	MLH1	P	648	H	P648H	Likely pathogenic	1	1	50	40
MUT:MLH1:Pro648Leu	PROT:P40692	MLH1	P	648	L	P648L	Likely pathogenic	1	5	50	40
MUT:MLH1:Pro648Ser	PROT:P40692	MLH1	P	648	S	P648S	Pathogenic	1	5	50	40
MUT:MLH1:Pro648Thr	PROT:P40692	MLH1	P	648	T	P648T	Likely pathogenic	1	1	50	40
MUT:MLH1:Pro654Leu	PROT:P40692	MLH1	P	654	L	P654L	Pathogenic	1	6	50	34
MUT:MLH1:Ser193Pro	PROT:P40692	MLH1	S	193	P	S193P	Likely pathogenic	1	2	50	3
MUT:MLH1:Ser247Pro	PROT:P40692	MLH1	S	247	P	S247P	Pathogenic	1	3	50	6
MUT:MLH1:Ser295Arg	PROT:P40692	MLH1	S	295	R	S295R	Pathogenic	1	5	50	0
MUT:MLH1:Ser295Asn	PROT:P40692	MLH1	S	295	N	S295N	Pathogenic	1	4	50	0
MUT:MLH1:Ser295Gly	PROT:P40692	MLH1	S	295	G	S295G	Pathogenic	1	5	50	0
MUT:MLH1:Ser295Ile	PROT:P40692	MLH1	S	295	I	S295I	Likely pathogenic	1	2	50	0
MUT:MLH1:Ser368Pro	PROT:P40692	MLH1	S	368	P	S368P	Likely benign	0	1	50	9
MUT:MLH1:Ser406Asn	PROT:P40692	MLH1	S	406	N	S406N	Benign	0	7	50	0
MUT:MLH1:Ser44Phe	PROT:P40692	MLH1	S	44	F	S44F	Pathogenic	1	5	50	11
MUT:MLH1:Ser44Tyr	PROT:P40692	MLH1	S	44	Y	S44Y	Pathogenic/Likely pathogenic	1	3	50	11
MUT:MLH1:Ser459Ala	PROT:P40692	MLH1	S	459	A	S459A	Likely benign	0	1	50	0
MUT:MLH1:Ser556Arg	PROT:P40692	MLH1	S	556	R	S556R	Likely pathogenic	1	2	50	48
MUT:MLH1:Ser556Asn	PROT:P40692	MLH1	S	556	N	S556N	Pathogenic/Likely pathogenic	1	5	50	48
MUT:MLH1:Ser556Ile	PROT:P40692	MLH1	S	556	I	S556I	Pathogenic	1	1	50	48
MUT:MLH1:Ser692Pro	PROT:P40692	MLH1	S	692	P	S692P	Benign	0	4	50	4
MUT:MLH1:Thr117Arg	PROT:P40692	MLH1	T	117	R	T117R	Likely pathogenic	1	4	50	6
MUT:MLH1:Thr117Lys	PROT:P40692	MLH1	T	117	K	T117K	Likely pathogenic	1	2	50	6
MUT:MLH1:Thr117Met	PROT:P40692	MLH1	T	117	M	T117M	Pathogenic	1	9	50	6
MUT:MLH1:Thr119Ala	PROT:P40692	MLH1	T	119	A	T119A	Likely pathogenic	1	1	50	4
MUT:MLH1:Thr347Asn	PROT:P40692	MLH1	T	347	N	T347N	Benign	0	5	50	14
MUT:MLH1:Thr347Ile	PROT:P40692	MLH1	T	347	I	T347I	Likely pathogenic	1	1	50	14
MUT:MLH1:Thr552Pro	PROT:P40692	MLH1	T	552	P	T552P	Likely pathogenic	1	1	50	44
MUT:MLH1:Thr662Pro	PROT:P40692	MLH1	T	662	P	T662P	Likely pathogenic	1	4	50	26
MUT:MLH1:Thr82Ala	PROT:P40692	MLH1	T	82	A	T82A	Likely pathogenic	1	6	50	2
MUT:MLH1:Thr82Ile	PROT:P40692	MLH1	T	82	I	T82I	Pathogenic	1	5	50	2
MUT:MLH1:Trp666Arg	PROT:P40692	MLH1	W	666	R	W666R	Likely pathogenic	1	1	50	22
MUT:MLH1:Tyr130Asn	PROT:P40692	MLH1	Y	130	N	Y130N	Likely pathogenic	1	1	50	4
MUT:MLH1:Tyr130Cys	PROT:P40692	MLH1	Y	130	C	Y130C	Pathogenic/Likely pathogenic	1	2	50	4
MUT:MLH1:Tyr130His	PROT:P40692	MLH1	Y	130	H	Y130H	Likely pathogenic	1	3	50	4
MUT:MLH1:Tyr130Ser	PROT:P40692	MLH1	Y	130	S	Y130S	Likely pathogenic	1	1	50	4
MUT:MLH1:Tyr379Cys	PROT:P40692	MLH1	Y	379	C	Y379C	Likely benign	0	6	50	0
MUT:MLH1:Tyr646Asp	PROT:P40692	MLH1	Y	646	D	Y646D	Likely pathogenic	1	1	50	42
MUT:MLH1:Tyr684Asp	PROT:P40692	MLH1	Y	684	D	Y684D	Likely pathogenic	1	1	50	4
MUT:MLH1:Val185Gly	PROT:P40692	MLH1	V	185	G	V185G	Pathogenic	1	4	50	1
MUT:MLH1:Val194Gly	PROT:P40692	MLH1	V	194	G	V194G	Likely pathogenic	1	2	50	2
MUT:MLH1:Val213Met	PROT:P40692	MLH1	V	213	M	V213M	Benign	0	7	50	1
MUT:MLH1:Val326Ala	PROT:P40692	MLH1	V	326	A	V326A	Benign	0	8	50	7
MUT:MLH1:Val384Asp	PROT:P40692	MLH1	V	384	D	V384D	Benign	0	7	50	2
MUT:MLH1:Val49Glu	PROT:P40692	MLH1	V	49	E	V49E	Pathogenic	1	1	50	8
MUT:MLH1:Val51Asp	PROT:P40692	MLH1	V	51	D	V51D	Pathogenic/Likely pathogenic	1	5	50	6
MUT:MLH1:Val716Met	PROT:P40692	MLH1	V	716	M	V716M	Benign	0	6	50	16
MUT:MLH3:Arg592Gly	PROT:Q9UHC1	MLH3	R	592	G	R592G	Likely benign	0	1	18	14
MUT:MLH3:Arg797His	PROT:Q9UHC1	MLH3	R	797	H	R797H	Benign	0	2	18	44
MUT:MLH3:Asn826Asp	PROT:Q9UHC1	MLH3	N	826	D	N826D	Benign	0	2	18	50
MUT:MLH3:Asn975Ser	PROT:Q9UHC1	MLH3	N	975	S	N975S	Benign/Likely benign	0	2	18	3
MUT:MLH3:Asp1073Asn	PROT:Q9UHC1	MLH3	D	1073	N	D1073N	Benign/Likely benign	0	2	18	91
MUT:MLH3:Asp1105Glu	PROT:Q9UHC1	MLH3	D	1105	E	D1105E	Benign/Likely benign	0	2	18	123
MUT:MLH3:Gln639Lys	PROT:Q9UHC1	MLH3	Q	639	K	Q639K	Likely benign	0	1	18	7
MUT:MLH3:Glu624Gln	PROT:Q9UHC1	MLH3	E	624	Q	E624Q	Benign/Likely benign	0	1	18	4
MUT:MLH3:Gly62Arg	PROT:Q9UHC1	MLH3	G	62	R	G62R	Likely benign	0	2	18	66
MUT:MLH3:Lys231Gln	PROT:Q9UHC1	MLH3	K	231	Q	K231Q	Benign/Likely benign	0	2	18	103
MUT:MLH3:Lys3Arg	PROT:Q9UHC1	MLH3	K	3	R	K3R	Benign/Likely benign	0	8	18	125
MUT:MLH3:Met162Val	PROT:Q9UHC1	MLH3	M	162	V	M162V	Likely benign	0	1	18	34
MUT:MLH3:Phe830Leu	PROT:Q9UHC1	MLH3	F	830	L	F830L	Benign/Likely benign	0	2	18	46
MUT:MLH3:Pro788Thr	PROT:Q9UHC1	MLH3	P	788	T	P788T	Likely benign	0	1	18	35
MUT:MLH3:Pro844Leu	PROT:Q9UHC1	MLH3	P	844	L	P844L	Benign	0	3	18	32
MUT:MLH3:Ser817Gly	PROT:Q9UHC1	MLH3	S	817	G	S817G	Likely benign	0	3	18	59
MUT:MLH3:Ser845Gly	PROT:Q9UHC1	MLH3	S	845	G	S845G	Benign/Likely benign	0	2	18	31
MUT:MLH3:Ser966Pro	PROT:Q9UHC1	MLH3	S	966	P	S966P	Benign/Likely benign	0	2	18	12
MUT:MLH3:Thr942Ile	PROT:Q9UHC1	MLH3	T	942	I	T942I	Benign/Likely benign	0	3	18	36
MUT:MLH3:Tyr720Cys	PROT:Q9UHC1	MLH3	Y	720	C	Y720C	Benign/Likely benign	0	3	18	26
MUT:MLH3:Val420Ile	PROT:Q9UHC1	MLH3	V	420	I	V420I	Benign/Likely benign	0	3	18	6
MUT:MLIP:Lys14Glu	PROT:Q5VWP3	MLIP	K	14	E	K14E	Likely benign	0	1	4	53
MUT:MLIP:Val774Ile	PROT:Q5VWP3	MLIP	V	774	I	V774I	Likely benign	0	1	4	491
MUT:MLKL:Asp100Glu	PROT:Q8NB16	MLKL	D	100	E	D100E	Benign	0	3	17	8
MUT:MLPH:Ala384Thr	PROT:Q9BV36	MLPH	A	384	T	A384T	Likely benign	0	1	22	13
MUT:MLPH:Arg35Gln	PROT:Q9BV36	MLPH	R	35	Q	R35Q	Pathogenic/Likely pathogenic	1	1	22	101
MUT:MLPH:Arg35Trp	PROT:Q9BV36	MLPH	R	35	W	R35W	Likely pathogenic	1	1	22	101
MUT:MLPH:Arg375His	PROT:Q9BV36	MLPH	R	375	H	R375H	Likely benign	0	1	22	22
MUT:MLPH:Arg66His	PROT:Q9BV36	MLPH	R	66	H	R66H	Likely benign	0	1	22	70
MUT:MLPH:Arg94Cys	PROT:Q9BV36	MLPH	R	94	C	R94C	Likely benign	0	1	22	42
MUT:MLPH:Asp229Gly	PROT:Q9BV36	MLPH	D	229	G	D229G	Likely benign	0	1	22	1
MUT:MLPH:Asp447Gly	PROT:Q9BV36	MLPH	D	447	G	D447G	Likely benign	0	1	22	3
MUT:MLPH:Glu391Val	PROT:Q9BV36	MLPH	E	391	V	E391V	Likely benign	0	1	22	6
MUT:MLPH:Gly243Val	PROT:Q9BV36	MLPH	G	243	V	G243V	Likely benign	0	1	22	10
MUT:MLPH:Gly271Ser	PROT:Q9BV36	MLPH	G	271	S	G271S	Likely benign	0	1	22	24
MUT:MLPH:His270Gln	PROT:Q9BV36	MLPH	H	270	Q	H270Q	Likely benign	0	1	22	25
MUT:MLPH:His598Gln	PROT:Q9BV36	MLPH	H	598	Q	H598Q	Likely benign	0	1	22	24
MUT:MLPH:Pro278Leu	PROT:Q9BV36	MLPH	P	278	L	P278L	Likely benign	0	1	22	17
MUT:MLPH:Pro451Ser	PROT:Q9BV36	MLPH	P	451	S	P451S	Benign	0	1	22	7
MUT:MLPH:Ser503Leu	PROT:Q9BV36	MLPH	S	503	L	S503L	Benign	0	1	22	49
MUT:MLPH:Val192Ile	PROT:Q9BV36	MLPH	V	192	I	V192I	Likely benign	0	1	22	19
MUT:MLPH:Val363Leu	PROT:Q9BV36	MLPH	V	363	L	V363L	Likely benign	0	1	22	26
MUT:MLPH:Val374Ala	PROT:Q9BV36	MLPH	V	374	A	V374A	Benign	0	1	22	23
MUT:MLXIPL:Ala513Thr	PROT:Q9NP71	MLXIPL	A	513	T	A513T	Benign/Likely benign	0	1	12	14
MUT:MLYCD:Ala215Ser	PROT:O95822	MLYCD	A	215	S	A215S	Likely benign	0	1	5	11
MUT:MLYCD:Ala69Val	PROT:O95822	MLYCD	A	69	V	A69V	Benign/Likely benign	0	2	5	99
MUT:MLYCD:Arg11Gly	PROT:O95822	MLYCD	R	11	G	R11G	Benign	0	1	5	157
MUT:MLYCD:Arg229His	PROT:O95822	MLYCD	R	229	H	R229H	Likely benign	0	2	5	25
MUT:MLYCD:Gly259Ala	PROT:O95822	MLYCD	G	259	A	G259A	Benign/Likely benign	0	1	5	55
MUT:MLYCD:Gly259Ser	PROT:O95822	MLYCD	G	259	S	G259S	Likely benign	0	1	5	55
MUT:MLYCD:His321Tyr	PROT:O95822	MLYCD	H	321	Y	H321Y	Likely benign	0	1	5	8
MUT:MLYCD:Ile444Leu	PROT:O95822	MLYCD	I	444	L	I444L	Likely benign	0	1	5	39
MUT:MLYCD:Lys309Gln	PROT:O95822	MLYCD	K	309	Q	K309Q	Benign/Likely benign	0	1	5	20
MUT:MLYCD:Lys475Ile	PROT:O95822	MLYCD	K	475	I	K475I	Likely benign	0	1	5	70
MUT:MLYCD:Met1Leu	PROT:O95822	MLYCD	M	1	L	M1L	Pathogenic/Likely pathogenic	1	2	5	167
MUT:MLYCD:Met1Thr	PROT:O95822	MLYCD	M	1	T	M1T	Pathogenic	1	1	5	167
MUT:MLYCD:Met40Thr	PROT:O95822	MLYCD	M	40	T	M40T	Pathogenic	1	1	5	128
MUT:MLYCD:Thr284Ala	PROT:O95822	MLYCD	T	284	A	T284A	Benign/Likely benign	0	1	5	45
MUT:MLYCD:Val181Met	PROT:O95822	MLYCD	V	181	M	V181M	Benign	0	1	5	13
MUT:MLYCD:Val429Met	PROT:O95822	MLYCD	V	429	M	V429M	Likely benign	0	1	5	24
MUT:MMAA:Ala287Asp	PROT:Q8IVH4	MMAA	A	287	D	A287D	Pathogenic	1	1	7	24
MUT:MMAA:Arg145Gln	PROT:Q8IVH4	MMAA	R	145	Q	R145Q	Pathogenic/Likely pathogenic	1	2	7	4
MUT:MMAA:Arg359Gln	PROT:Q8IVH4	MMAA	R	359	Q	R359Q	Pathogenic/Likely pathogenic	1	1	7	43
MUT:MMAA:Asp258Asn	PROT:Q8IVH4	MMAA	D	258	N	D258N	Likely pathogenic	1	2	7	51
MUT:MMAA:Asp292Val	PROT:Q8IVH4	MMAA	D	292	V	D292V	Pathogenic	1	1	7	19
MUT:MMAA:Gln363His	PROT:Q8IVH4	MMAA	Q	363	H	Q363H	Benign/Likely benign	0	1	7	39
MUT:MMAA:Gly147Glu	PROT:Q8IVH4	MMAA	G	147	E	G147E	Likely pathogenic	1	1	7	2
MUT:MMAA:Gly188Arg	PROT:Q8IVH4	MMAA	G	188	R	G188R	Likely pathogenic	1	1	7	1
MUT:MMAA:Gly192Asp	PROT:Q8IVH4	MMAA	G	192	D	G192D	Pathogenic	1	1	7	2
MUT:MMAA:Gly218Glu	PROT:Q8IVH4	MMAA	G	218	E	G218E	Likely pathogenic	1	2	7	11
MUT:MMAA:Gly278Ser	PROT:Q8IVH4	MMAA	G	278	S	G278S	Likely pathogenic	1	1	7	33
MUT:MMAA:Gly399Val	PROT:Q8IVH4	MMAA	G	399	V	G399V	Pathogenic/Likely pathogenic	1	1	7	3
MUT:MMAA:Ile241Phe	PROT:Q8IVH4	MMAA	I	241	F	I241F	Pathogenic	1	1	7	34
MUT:MMAA:Leu122Pro	PROT:Q8IVH4	MMAA	L	122	P	L122P	Pathogenic/Likely pathogenic	1	1	7	18
MUT:MMAA:Leu89Pro	PROT:Q8IVH4	MMAA	L	89	P	L89P	Pathogenic/Likely pathogenic	1	1	7	51
MUT:MMAA:Met1Val	PROT:Q8IVH4	MMAA	M	1	V	M1V	Likely pathogenic	1	1	7	139
MUT:MMAA:Met342Arg	PROT:Q8IVH4	MMAA	M	342	R	M342R	Pathogenic	1	1	7	31
MUT:MMAA:Ser79Pro	PROT:Q8IVH4	MMAA	S	79	P	S79P	Likely pathogenic	1	1	7	61
MUT:MMAA:Thr243Asn	PROT:Q8IVH4	MMAA	T	243	N	T243N	Pathogenic	1	1	7	36
MUT:MMAA:Tyr207Cys	PROT:Q8IVH4	MMAA	Y	207	C	Y207C	Pathogenic	1	1	7	0
MUT:MMAA:Val220Ala	PROT:Q8IVH4	MMAA	V	220	A	V220A	Likely pathogenic	1	1	7	13
MUT:MMAA:Val220Met	PROT:Q8IVH4	MMAA	V	220	M	V220M	Pathogenic/Likely pathogenic	1	2	7	13
MUT:MMAB:Ala127Asp	PROT:Q96EY8	MMAB	A	127	D	A127D	Likely pathogenic	1	1	5	7
MUT:MMAB:Arg186Gln	PROT:Q96EY8	MMAB	R	186	Q	R186Q	Pathogenic/Likely pathogenic	1	2	5	18
MUT:MMAB:Arg186Pro	PROT:Q96EY8	MMAB	R	186	P	R186P	Likely pathogenic	1	1	5	18
MUT:MMAB:Arg186Trp	PROT:Q96EY8	MMAB	R	186	W	R186W	Pathogenic/Likely pathogenic	1	3	5	18
MUT:MMAB:Arg190Cys	PROT:Q96EY8	MMAB	R	190	C	R190C	Pathogenic/Likely pathogenic	1	1	5	21
MUT:MMAB:Arg190His	PROT:Q96EY8	MMAB	R	190	H	R190H	Pathogenic	1	2	5	21
MUT:MMAB:Arg191Gln	PROT:Q96EY8	MMAB	R	191	Q	R191Q	Pathogenic	1	1	5	20
MUT:MMAB:Arg191Gly	PROT:Q96EY8	MMAB	R	191	G	R191G	Likely pathogenic	1	1	5	20
MUT:MMAB:Arg191Pro	PROT:Q96EY8	MMAB	R	191	P	R191P	Likely pathogenic	1	1	5	20
MUT:MMAB:Arg191Trp	PROT:Q96EY8	MMAB	R	191	W	R191W	Pathogenic	1	1	5	20
MUT:MMAB:Arg194Gly	PROT:Q96EY8	MMAB	R	194	G	R194G	Pathogenic/Likely pathogenic	1	1	5	17
MUT:MMAB:Arg19Gln	PROT:Q96EY8	MMAB	R	19	Q	R19Q	Benign	0	1	5	11
MUT:MMAB:Arg19His	PROT:Q96EY8	MMAB	R	19	H	R19H	Benign	0	1	5	11
MUT:MMAB:Glu112Lys	PROT:Q96EY8	MMAB	E	112	K	E112K	Likely benign	0	1	5	22
MUT:MMAB:Glu154Asp	PROT:Q96EY8	MMAB	E	154	D	E154D	Pathogenic	1	1	5	14
MUT:MMAB:Glu193Gln	PROT:Q96EY8	MMAB	E	193	Q	E193Q	Likely pathogenic	1	1	5	18
MUT:MMAB:Glu193Lys	PROT:Q96EY8	MMAB	E	193	K	E193K	Pathogenic/Likely pathogenic	1	1	5	18
MUT:MMAB:Gly97Glu	PROT:Q96EY8	MMAB	G	97	E	G97E	Pathogenic/Likely pathogenic	1	1	5	37
MUT:MMAB:Ile96Thr	PROT:Q96EY8	MMAB	I	96	T	I96T	Likely pathogenic	1	1	5	38
MUT:MMAB:Met1Arg	PROT:Q96EY8	MMAB	M	1	R	M1R	Likely pathogenic	1	1	5	7
MUT:MMAB:Met1Leu	PROT:Q96EY8	MMAB	M	1	L	M1L	Pathogenic	1	1	5	7
MUT:MMAB:Met1Lys	PROT:Q96EY8	MMAB	M	1	K	M1K	Pathogenic	1	1	5	7
MUT:MMAB:Met1Thr	PROT:Q96EY8	MMAB	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	5	7
MUT:MMAB:Met239Lys	PROT:Q96EY8	MMAB	M	239	K	M239K	Benign	0	2	5	20
MUT:MMAB:Ser174Leu	PROT:Q96EY8	MMAB	S	174	L	S174L	Likely pathogenic	1	2	5	6
MUT:MMAB:Ser217Ile	PROT:Q96EY8	MMAB	S	217	I	S217I	Pathogenic	1	1	5	2
MUT:MMAB:Ser69Asn	PROT:Q96EY8	MMAB	S	69	N	S69N	Likely benign	0	1	5	61
MUT:MMAB:Thr62Met	PROT:Q96EY8	MMAB	T	62	M	T62M	Benign/Likely benign	0	4	5	54
MUT:MMAB:Val188Gly	PROT:Q96EY8	MMAB	V	188	G	V188G	Pathogenic	1	1	5	20
MUT:MMAB:Val188Met	PROT:Q96EY8	MMAB	V	188	M	V188M	Pathogenic/Likely pathogenic	1	1	5	20
MUT:MMAB:Val209Met	PROT:Q96EY8	MMAB	V	209	M	V209M	Pathogenic/Likely pathogenic	1	2	5	2
MUT:MME:Ala658Thr	PROT:P08473	MME	A	658	T	A658T	Likely pathogenic	1	1	7	55
MUT:MME:Asn593Ser	PROT:P08473	MME	N	593	S	N593S	Likely benign	0	1	7	86
MUT:MME:Cys143Tyr	PROT:P08473	MME	C	143	Y	C143Y	Pathogenic	1	1	7	128
MUT:MME:Cys621Arg	PROT:P08473	MME	C	621	R	C621R	Likely pathogenic	1	2	7	92
MUT:MME:Gln625Leu	PROT:P08473	MME	Q	625	L	Q625L	Likely pathogenic	1	1	7	88
MUT:MME:Gly577Asp	PROT:P08473	MME	G	577	D	G577D	Pathogenic/Likely pathogenic	1	1	7	70
MUT:MME:Met8Val	PROT:P08473	MME	M	8	V	M8V	Benign	0	6	7	2
MUT:MME:Pro556Ser	PROT:P08473	MME	P	556	S	P556S	Likely pathogenic	1	1	7	49
MUT:MME:Trp167Arg	PROT:P08473	MME	W	167	R	W167R	Likely pathogenic	1	2	7	152
MUT:MMP13:Ala8Val	PROT:P45452	MMP13	A	8	V	A8V	Benign/Likely benign	0	2	2	352
MUT:MMP13:Asp158Asn	PROT:P45452	MMP13	D	158	N	D158N	Benign/Likely benign	0	2	2	202
MUT:MMP13:Asp390Gly	PROT:P45452	MMP13	D	390	G	D390G	Benign/Likely benign	0	2	2	24
MUT:MMP13:Glu70Lys	PROT:P45452	MMP13	E	70	K	E70K	Likely pathogenic	1	1	2	290
MUT:MMP13:His232Asn	PROT:P45452	MMP13	H	232	N	H232N	Pathogenic	1	1	2	128
MUT:MMP13:Leu77Ser	PROT:P45452	MMP13	L	77	S	L77S	Likely pathogenic	1	1	2	283
MUT:MMP13:Met71Thr	PROT:P45452	MMP13	M	71	T	M71T	Pathogenic	1	1	2	289
MUT:MMP13:Met91Thr	PROT:P45452	MMP13	M	91	T	M91T	Pathogenic	1	2	2	269
MUT:MMP13:Phe74Ser	PROT:P45452	MMP13	F	74	S	F74S	Pathogenic	1	1	2	286
MUT:MMP13:Phe75Leu	PROT:P45452	MMP13	F	75	L	F75L	Likely pathogenic	1	1	2	285
MUT:MMP13:Phe75Ser	PROT:P45452	MMP13	F	75	S	F75S	Pathogenic	1	1	2	285
MUT:MMP13:Trp207Gly	PROT:P45452	MMP13	W	207	G	W207G	Pathogenic/Likely pathogenic	1	2	2	153
MUT:MMP14:Ala37Pro	PROT:P50281	MMP14	A	37	P	A37P	Likely benign	0	1	4	425
MUT:MMP14:Arg111His	PROT:P50281	MMP14	R	111	H	R111H	Pathogenic	1	1	4	351
MUT:MMP14:Arg431His	PROT:P50281	MMP14	R	431	H	R431H	Benign	0	1	4	31
MUT:MMP14:Glu286Lys	PROT:P50281	MMP14	E	286	K	E286K	Likely benign	0	1	4	176
MUT:MMP14:Pro8Ser	PROT:P50281	MMP14	P	8	S	P8S	Benign	0	1	4	454
MUT:MMP14:Thr17Arg	PROT:P50281	MMP14	T	17	R	T17R	Pathogenic	1	1	4	445
MUT:MNS1:Arg425His	PROT:Q8NEH6	MNS1	R	425	H	R425H	Likely benign	0	1	1	237
MUT:MOBP:Pro121Ser	PROT:Q13875	MOBP	P	121	S	P121S	Likely benign	0	1	2	22
MUT:MOCS1:Ala233Val	PROT:Q9NZB8	MOCS1	A	233	V	A233V	Benign	0	1	2	108
MUT:MOCS1:Arg319Gln	PROT:Q9NZB8	MOCS1	R	319	Q	R319Q	Likely pathogenic	1	2	2	194
MUT:MOCS1:Arg439Gln	PROT:Q9NZB8	MOCS1	R	439	Q	R439Q	Benign	0	1	2	314
MUT:MOCS1:Arg452Leu	PROT:Q9NZB8	MOCS1	R	452	L	R452L	Benign	0	9	2	327
MUT:MOCS1:Arg572His	PROT:Q9NZB8	MOCS1	R	572	H	R572H	Benign/Likely benign	0	1	2	447
MUT:MOCS1:Arg582Trp	PROT:Q9NZB8	MOCS1	R	582	W	R582W	Likely benign	0	1	2	457
MUT:MOCS1:Gly126Asp	PROT:Q9NZB8	MOCS1	G	126	D	G126D	Pathogenic/Likely pathogenic	1	1	2	1
MUT:MOCS1:Gly157Asp	PROT:Q9NZB8	MOCS1	G	157	D	G157D	Likely pathogenic	1	1	2	32
MUT:MOCS1:Gly324Glu	PROT:Q9NZB8	MOCS1	G	324	E	G324E	Pathogenic	1	1	2	199
MUT:MOCS1:Leu239His	PROT:Q9NZB8	MOCS1	L	239	H	L239H	Benign	0	1	2	114
MUT:MOCS1:Leu594Val	PROT:Q9NZB8	MOCS1	L	594	V	L594V	Likely benign	0	1	2	469
MUT:MOCS1:Pro390His	PROT:Q9NZB8	MOCS1	P	390	H	P390H	Benign	0	1	2	265
MUT:MOCS1:Ser173Arg	PROT:Q9NZB8	MOCS1	S	173	R	S173R	Likely benign	0	2	2	48
MUT:MOCS3:Asn190Ile	PROT:O95396	MOCS3	N	190	I	N190I	Likely benign	0	1	11	40
MUT:MOG:Ile174Val	PROT:Q16653	MOG	I	174	V	I174V	Benign	0	1	1	118
MUT:MOG:Ser133Cys	PROT:Q16653	MOG	S	133	C	S133C	Pathogenic	1	1	1	77
MUT:MOG:Val171Leu	PROT:Q16653	MOG	V	171	L	V171L	Benign	0	1	1	115
MUT:MOGS:Ala360Thr	PROT:Q13724	MOGS	A	360	T	A360T	Likely benign	0	1	13	3
MUT:MOGS:Arg110His	PROT:Q13724	MOGS	R	110	H	R110H	Likely pathogenic	1	1	13	64
MUT:MOGS:Arg29Gly	PROT:Q13724	MOGS	R	29	G	R29G	Benign/Likely benign	0	2	13	11
MUT:MOGS:Arg486Thr	PROT:Q13724	MOGS	R	486	T	R486T	Pathogenic	1	1	13	50
MUT:MOGS:Arg613Gln	PROT:Q13724	MOGS	R	613	Q	R613Q	Benign/Likely benign	0	1	13	37
MUT:MOGS:Arg678Trp	PROT:Q13724	MOGS	R	678	W	R678W	Benign/Likely benign	0	1	13	13
MUT:MOGS:Asp239Asn	PROT:Q13724	MOGS	D	239	N	D239N	Benign/Likely benign	0	1	13	9
MUT:MOGS:Asp527Glu	PROT:Q13724	MOGS	D	527	E	D527E	Likely benign	0	2	13	49
MUT:MOGS:Asp566Glu	PROT:Q13724	MOGS	D	566	E	D566E	Likely benign	0	1	13	10
MUT:MOGS:Gly222Arg	PROT:Q13724	MOGS	G	222	R	G222R	Likely benign	0	4	13	6
MUT:MOGS:Gly25Glu	PROT:Q13724	MOGS	G	25	E	G25E	Likely benign	0	1	13	7
MUT:MOGS:Gly409Arg	PROT:Q13724	MOGS	G	409	R	G409R	Likely pathogenic	1	1	13	27
MUT:MOGS:Gly785Ser	PROT:Q13724	MOGS	G	785	S	G785S	Benign/Likely benign	0	1	13	61
MUT:MOGS:Ile415Met	PROT:Q13724	MOGS	I	415	M	I415M	Benign/Likely benign	0	1	13	21
MUT:MOGS:Leu627Pro	PROT:Q13724	MOGS	L	627	P	L627P	Likely pathogenic	1	1	13	38
MUT:MOGS:Phe652Leu	PROT:Q13724	MOGS	F	652	L	F652L	Pathogenic	1	1	13	13
MUT:MOGS:Pro293Ser	PROT:Q13724	MOGS	P	293	S	P293S	Benign/Likely benign	0	1	13	44
MUT:MOGS:Pro294Leu	PROT:Q13724	MOGS	P	294	L	P294L	Benign/Likely benign	0	1	13	45
MUT:MOGS:Tyr769His	PROT:Q13724	MOGS	Y	769	H	Y769H	Likely pathogenic	1	1	13	45
MUT:MOGS:Val432Leu	PROT:Q13724	MOGS	V	432	L	V432L	Likely benign	0	1	13	4
MUT:MOGS:Val62Met	PROT:Q13724	MOGS	V	62	M	V62M	Benign/Likely benign	0	1	13	44
MUT:MOGS:Val673Ile	PROT:Q13724	MOGS	V	673	I	V673I	Benign/Likely benign	0	1	13	8
MUT:MON1A:Arg152Cys	PROT:Q86VX9	MON1A	R	152	C	R152C	Likely pathogenic	1	1	3	8
MUT:MOV10L1:Arg182Cys	PROT:Q9BXT6	MOV10L1	R	182	C	R182C	Benign	0	2	3	290
MUT:MOV10L1:Ser816Ile	PROT:Q9BXT6	MOV10L1	S	816	I	S816I	Likely pathogenic	1	2	3	192
MUT:MPDU1:Ala135Pro	PROT:O75352	MPDU1	A	135	P	A135P	Benign	0	1	2	71
MUT:MPDU1:Ala229Thr	PROT:O75352	MPDU1	A	229	T	A229T	Benign	0	1	2	165
MUT:MPDU1:Gln126Pro	PROT:O75352	MPDU1	Q	126	P	Q126P	Likely pathogenic	1	1	2	62
MUT:MPDU1:Gly104Ser	PROT:O75352	MPDU1	G	104	S	G104S	Likely pathogenic	1	1	2	40
MUT:MPDU1:Gly225Ser	PROT:O75352	MPDU1	G	225	S	G225S	Benign	0	6	2	161
MUT:MPDU1:Leu119Pro	PROT:O75352	MPDU1	L	119	P	L119P	Pathogenic	1	1	2	55
MUT:MPDU1:Leu74Ser	PROT:O75352	MPDU1	L	74	S	L74S	Pathogenic	1	1	2	10
MUT:MPDU1:Met1Thr	PROT:O75352	MPDU1	M	1	T	M1T	Pathogenic	1	1	2	42
MUT:MPDU1:Pro8Leu	PROT:O75352	MPDU1	P	8	L	P8L	Likely benign	0	1	2	35
MUT:MPDU1:Ser221Cys	PROT:O75352	MPDU1	S	221	C	S221C	Likely benign	0	1	2	157
MUT:MPDU1:Val218Leu	PROT:O75352	MPDU1	V	218	L	V218L	Benign/Likely benign	0	1	2	154
MUT:MPDZ:Ala104Gly	PROT:O75970	MPDZ	A	104	G	A104G	Likely benign	0	1	24	72
MUT:MPDZ:Arg1107Gly	PROT:O75970	MPDZ	R	1107	G	R1107G	Likely benign	0	1	24	29
MUT:MPDZ:Arg2059Gln	PROT:O75970	MPDZ	R	2059	Q	R2059Q	Benign/Likely benign	0	2	24	66
MUT:MPDZ:Cys119Ser	PROT:O75970	MPDZ	C	119	S	C119S	Likely benign	0	1	24	87
MUT:MPDZ:Cys810Ser	PROT:O75970	MPDZ	C	810	S	C810S	Benign/Likely benign	0	1	24	20
MUT:MPDZ:Glu1307Lys	PROT:O75970	MPDZ	E	1307	K	E1307K	Likely benign	0	1	24	19
MUT:MPDZ:Gly868Ser	PROT:O75970	MPDZ	G	868	S	G868S	Benign	0	1	24	78
MUT:MPDZ:His1561Arg	PROT:O75970	MPDZ	H	1561	R	H1561R	Likely benign	0	1	24	39
MUT:MPDZ:His177Tyr	PROT:O75970	MPDZ	H	177	Y	H177Y	Benign	0	1	24	47
MUT:MPDZ:Ile206Val	PROT:O75970	MPDZ	I	206	V	I206V	Likely benign	0	1	24	18
MUT:MPDZ:Ile220Leu	PROT:O75970	MPDZ	I	220	L	I220L	Benign	0	1	24	4
MUT:MPDZ:Ile272Val	PROT:O75970	MPDZ	I	272	V	I272V	Benign	0	1	24	38
MUT:MPDZ:Ile490Ser	PROT:O75970	MPDZ	I	490	S	I490S	Likely benign	0	1	24	1
MUT:MPDZ:Lys708Arg	PROT:O75970	MPDZ	K	708	R	K708R	Likely benign	0	1	24	9
MUT:MPDZ:Lys799Glu	PROT:O75970	MPDZ	K	799	E	K799E	Likely benign	0	1	24	9
MUT:MPDZ:Met471Thr	PROT:O75970	MPDZ	M	471	T	M471T	Likely benign	0	1	24	12
MUT:MPDZ:Phe664Leu	PROT:O75970	MPDZ	F	664	L	F664L	Benign/Likely benign	0	1	24	53
MUT:MPDZ:Phe93Cys	PROT:O75970	MPDZ	F	93	C	F93C	Benign	0	1	24	61
MUT:MPDZ:Pro1298Leu	PROT:O75970	MPDZ	P	1298	L	P1298L	Benign	0	1	24	15
MUT:MPDZ:Pro1299Arg	PROT:O75970	MPDZ	P	1299	R	P1299R	Benign	0	1	24	16
MUT:MPDZ:Pro972Ser	PROT:O75970	MPDZ	P	972	S	P972S	Benign	0	1	24	106
MUT:MPDZ:Ser1136Asn	PROT:O75970	MPDZ	S	1136	N	S1136N	Benign	0	1	24	7
MUT:MPDZ:Ser732Thr	PROT:O75970	MPDZ	S	732	T	S732T	Likely benign	0	2	24	9
MUT:MPDZ:Thr1462Ala	PROT:O75970	MPDZ	T	1462	A	T1462A	Likely benign	0	1	24	17
MUT:MPDZ:Thr434Arg	PROT:O75970	MPDZ	T	434	R	T434R	Benign	0	1	24	49
MUT:MPDZ:Thr678Ser	PROT:O75970	MPDZ	T	678	S	T678S	Likely benign	0	1	24	39
MUT:MPDZ:Thr840Ala	PROT:O75970	MPDZ	T	840	A	T840A	Benign	0	1	24	50
MUT:MPDZ:Val77Ile	PROT:O75970	MPDZ	V	77	I	V77I	Likely benign	0	1	24	45
MUT:MPEG1:Pro325Ser	PROT:Q2M385	MPEG1	P	325	S	P325S	Pathogenic	1	1	1	370
MUT:MPEG1:Thr164Ile	PROT:Q2M385	MPEG1	T	164	I	T164I	Likely benign	0	1	1	531
MUT:MPEG1:Thr73Ala	PROT:Q2M385	MPEG1	T	73	A	T73A	Likely benign	0	1	1	622
MUT:MPEG1:Val394Ile	PROT:Q2M385	MPEG1	V	394	I	V394I	Likely benign	0	1	1	301
MUT:MPIG6B:Ala228Val	PROT:O95866	MPIG6B	A	228	V	A228V	Likely benign	0	1	3	1
MUT:MPIG6B:Arg175Gly	PROT:O95866	MPIG6B	R	175	G	R175G	Benign	0	1	3	45
MUT:MPIG6B:Leu183Val	PROT:O95866	MPIG6B	L	183	V	L183V	Likely benign	0	1	3	37
MUT:MPIG6B:Pro178Ser	PROT:O95866	MPIG6B	P	178	S	P178S	Benign/Likely benign	0	1	3	42
MUT:MPIG6B:Pro62Gln	PROT:O95866	MPIG6B	P	62	Q	P62Q	Likely benign	0	1	3	158
MUT:MPO:Arg499Cys	PROT:P05164	MPO	R	499	C	R499C	Pathogenic/Likely pathogenic	1	2	4	71
MUT:MPO:Arg569Trp	PROT:P05164	MPO	R	569	W	R569W	Pathogenic/Likely pathogenic	1	2	4	141
MUT:MPO:Arg604Cys	PROT:P05164	MPO	R	604	C	R604C	Likely benign	0	2	4	119
MUT:MPO:Gly16Glu	PROT:P05164	MPO	G	16	E	G16E	Likely benign	0	1	4	175
MUT:MPO:Gly501Ser	PROT:P05164	MPO	G	501	S	G501S	Pathogenic	1	1	4	73
MUT:MPO:Ile642Leu	PROT:P05164	MPO	I	642	L	I642L	Likely benign	0	1	4	81
MUT:MPO:Leu572Trp	PROT:P05164	MPO	L	572	W	L572W	Pathogenic	1	1	4	144
MUT:MPO:Val53Phe	PROT:P05164	MPO	V	53	F	V53F	Benign	0	1	4	138
MUT:MPV17:Ala23Pro	PROT:P39210	MPV17	A	23	P	A23P	Likely pathogenic	1	1	2	57
MUT:MPV17:Arg154Met	PROT:P39210	MPV17	R	154	M	R154M	Likely pathogenic	1	2	2	72
MUT:MPV17:Arg41Gln	PROT:P39210	MPV17	R	41	Q	R41Q	Pathogenic/Likely pathogenic	1	6	2	39
MUT:MPV17:Arg50Gln	PROT:P39210	MPV17	R	50	Q	R50Q	Pathogenic	1	6	2	30
MUT:MPV17:Arg50Trp	PROT:P39210	MPV17	R	50	W	R50W	Pathogenic	1	4	2	30
MUT:MPV17:Asn166Lys	PROT:P39210	MPV17	N	166	K	N166K	Pathogenic	1	1	2	84
MUT:MPV17:Asp92Gly	PROT:P39210	MPV17	D	92	G	D92G	Likely pathogenic	1	1	2	10
MUT:MPV17:Gln93Pro	PROT:P39210	MPV17	Q	93	P	Q93P	Pathogenic/Likely pathogenic	1	1	2	11
MUT:MPV17:Gly94Arg	PROT:P39210	MPV17	G	94	R	G94R	Likely pathogenic	1	2	2	12
MUT:MPV17:Leu73Met	PROT:P39210	MPV17	L	73	M	L73M	Likely benign	0	1	2	7
MUT:MPV17:Pro64Arg	PROT:P39210	MPV17	P	64	R	P64R	Pathogenic/Likely pathogenic	1	6	2	16
MUT:MPV17:Pro98Leu	PROT:P39210	MPV17	P	98	L	P98L	Pathogenic/Likely pathogenic	1	6	2	16
MUT:MPV17:Ser170Phe	PROT:P39210	MPV17	S	170	F	S170F	Pathogenic/Likely pathogenic	1	1	2	88
MUT:MPZL2:Arg139Gln	PROT:O60487	MPZL2	R	139	Q	R139Q	Benign	0	1	2	67
MUT:MPZL2:Arg94Trp	PROT:O60487	MPZL2	R	94	W	R94W	Likely pathogenic	1	1	2	112
MUT:MPZL2:Met1Ile	PROT:O60487	MPZL2	M	1	I	M1I	Likely pathogenic	1	1	2	205
MUT:MPZL2:Val146Ala	PROT:O60487	MPZL2	V	146	A	V146A	Likely benign	0	1	2	60
MUT:MRAP2:Arg125His	PROT:Q96G30	MRAP2	R	125	H	R125H	Likely benign	0	1	1	36
MUT:MRAP2:Thr65Ile	PROT:Q96G30	MRAP2	T	65	I	T65I	Likely benign	0	1	1	24
MUT:MRE11:Ala614Thr	PROT:P49959	MRE11	A	614	T	A614T	Likely benign	0	1	58	5
MUT:MRE11:Arg594Gly	PROT:P49959	MRE11	R	594	G	R594G	Benign/Likely benign	0	4	58	3
MUT:MRE11:Asn556Asp	PROT:P49959	MRE11	N	556	D	N556D	Likely benign	0	1	58	2
MUT:MRE11:Asn567Ser	PROT:P49959	MRE11	N	567	S	N567S	Likely benign	0	1	58	6
MUT:MRE11:Asp41Asn	PROT:P49959	MRE11	D	41	N	D41N	Benign/Likely benign	0	4	58	29
MUT:MRE11:Glu535Asp	PROT:P49959	MRE11	E	535	D	E535D	Likely benign	0	1	58	4
MUT:MRE11:His129Leu	PROT:P49959	MRE11	H	129	L	H129L	Likely pathogenic	1	1	58	29
MUT:MRE11:His297Gln	PROT:P49959	MRE11	H	297	Q	H297Q	Likely benign	0	1	58	1
MUT:MRE11:His302Arg	PROT:P49959	MRE11	H	302	R	H302R	Likely benign	0	1	58	4
MUT:MRE11:His302Gln	PROT:P49959	MRE11	H	302	Q	H302Q	Likely benign	0	1	58	4
MUT:MRE11:Ile312Val	PROT:P49959	MRE11	I	312	V	I312V	Likely benign	0	1	58	14
MUT:MRE11:Met1Ile	PROT:P49959	MRE11	M	1	I	M1I	Likely pathogenic	1	1	58	1
MUT:MRE11:Met698Val	PROT:P49959	MRE11	M	698	V	M698V	Benign	0	4	58	3
MUT:MRE11:Phe13Ile	PROT:P49959	MRE11	F	13	I	F13I	Benign/Likely benign	0	3	58	1
MUT:MRE11:Ser334Arg	PROT:P49959	MRE11	S	334	R	S334R	Benign	0	4	58	5
MUT:MRE11:Ser334Asn	PROT:P49959	MRE11	S	334	N	S334N	Likely benign	0	1	58	5
MUT:MRE11:Ser605Gly	PROT:P49959	MRE11	S	605	G	S605G	Likely benign	0	1	58	2
MUT:MRE11:Ser670Thr	PROT:P49959	MRE11	S	670	T	S670T	Likely benign	0	1	58	0
MUT:MRE11:Ser681Ala	PROT:P49959	MRE11	S	681	A	S681A	Likely benign	0	1	58	0
MUT:MRE11:Thr481Lys	PROT:P49959	MRE11	T	481	K	T481K	Likely pathogenic	1	2	58	0
MUT:MRE11:Thr507Ser	PROT:P49959	MRE11	T	507	S	T507S	Likely benign	0	1	58	11
MUT:MRE11:Thr524Asn	PROT:P49959	MRE11	T	524	N	T524N	Likely benign	0	1	58	7
MUT:MRE11:Thr627Ala	PROT:P49959	MRE11	T	627	A	T627A	Likely benign	0	1	58	8
MUT:MRE11:Thr700Ile	PROT:P49959	MRE11	T	700	I	T700I	Likely benign	0	1	58	1
MUT:MRE11:Trp210Cys	PROT:P49959	MRE11	W	210	C	W210C	Pathogenic/Likely pathogenic	1	1	58	13
MUT:MRM2:Gly189Arg	PROT:Q9UI43	MRM2	G	189	R	G189R	Pathogenic	1	1	6	20
MUT:MRM2:Gly239Arg	PROT:Q9UI43	MRM2	G	239	R	G239R	Benign	0	1	6	14
MUT:MRM2:Ser11Phe	PROT:Q9UI43	MRM2	S	11	F	S11F	Benign	0	1	6	37
MUT:MRPL12:Ala181Val	PROT:P52815	MRPL12	A	181	V	A181V	Pathogenic	1	1	3	31
MUT:MRPL44:Arg14Cys	PROT:Q9H9J2	MRPL44	R	14	C	R14C	Likely benign	0	1	5	232
MUT:MRPL44:Arg78Gln	PROT:Q9H9J2	MRPL44	R	78	Q	R78Q	Likely pathogenic	1	1	5	168
MUT:MRPL44:Asn315Asp	PROT:Q9H9J2	MRPL44	N	315	D	N315D	Likely benign	0	1	5	12
MUT:MRPL44:Leu156Arg	PROT:Q9H9J2	MRPL44	L	156	R	L156R	Pathogenic/Likely pathogenic	1	1	5	90
MUT:MRPL49:Arg88Cys	PROT:Q13405	MRPL49	R	88	C	R88C	Pathogenic/Likely pathogenic	1	3	3	41
MUT:MRPL49:Arg88His	PROT:Q13405	MRPL49	R	88	H	R88H	Pathogenic	1	2	3	41
MUT:MRPL49:His92Pro	PROT:Q13405	MRPL49	H	92	P	H92P	Pathogenic/Likely pathogenic	1	2	3	37
MUT:MRPS11:Ala7Val	PROT:P82912	MRPS11	A	7	V	A7V	Likely benign	0	1	3	9
MUT:MRPS16:Thr130Arg	PROT:Q9Y3D3	MRPS16	T	130	R	T130R	Likely benign	0	1	4	0
MUT:MRPS23:Gly81Ser	PROT:Q9Y3D9	MRPS23	G	81	S	G81S	Likely benign	0	1	8	8
MUT:MRPS23:Pro40Arg	PROT:Q9Y3D9	MRPS23	P	40	R	P40R	Pathogenic	1	1	8	17
MUT:MRPS34:Gln207Leu	PROT:P82930	MRPS34	Q	207	L	Q207L	Likely benign	0	1	1	64
MUT:MRPS34:Glu13Lys	PROT:P82930	MRPS34	E	13	K	E13K	Likely pathogenic	1	2	1	130
MUT:MRPS34:Glu188Lys	PROT:P82930	MRPS34	E	188	K	E188K	Likely pathogenic	1	1	1	45
MUT:MRPS34:Leu109Phe	PROT:P82930	MRPS34	L	109	F	L109F	Benign	0	1	1	34
MUT:MRPS34:Leu25Arg	PROT:P82930	MRPS34	L	25	R	L25R	Likely benign	0	1	1	118
MUT:MRPS34:Leu33Ile	PROT:P82930	MRPS34	L	33	I	L33I	Benign	0	2	1	110
MUT:MRPS34:Pro200Leu	PROT:P82930	MRPS34	P	200	L	P200L	Likely benign	0	1	1	57
MUT:MRPS7:Ala2Val	PROT:Q9Y2R9	MRPS7	A	2	V	A2V	Benign	0	1	12	40
MUT:MRPS7:Arg198Gln	PROT:Q9Y2R9	MRPS7	R	198	Q	R198Q	Benign/Likely benign	0	1	12	10
MUT:MRPS7:Thr143Ser	PROT:Q9Y2R9	MRPS7	T	143	S	T143S	Likely benign	0	1	12	18
MUT:MRTFB:Ala91Pro	PROT:Q9ULH7	MRTFB	A	91	P	A91P	Pathogenic	1	1	12	14
MUT:MRTFB:Arg104Gly	PROT:Q9ULH7	MRTFB	R	104	G	R104G	Pathogenic	1	1	12	27
MUT:MS4A2:Glu237Gly	PROT:Q01362	MS4A2	E	237	G	E237G	Benign	0	1	3	11
MUT:MSH2:Ala120Ser	PROT:P43246	MSH2	A	120	S	A120S	Likely benign	0	1	52	7
MUT:MSH2:Ala143Pro	PROT:P43246	MSH2	A	143	P	A143P	Likely benign	0	1	52	29
MUT:MSH2:Ala14Pro	PROT:P43246	MSH2	A	14	P	A14P	Likely benign	0	1	52	18
MUT:MSH2:Ala14Val	PROT:P43246	MSH2	A	14	V	A14V	Likely benign	0	1	52	18
MUT:MSH2:Ala154Pro	PROT:P43246	MSH2	A	154	P	A154P	Likely benign	0	1	52	18
MUT:MSH2:Ala15Pro	PROT:P43246	MSH2	A	15	P	A15P	Likely benign	0	1	52	17
MUT:MSH2:Ala189Val	PROT:P43246	MSH2	A	189	V	A189V	Likely benign	0	1	52	17
MUT:MSH2:Ala207Val	PROT:P43246	MSH2	A	207	V	A207V	Likely benign	0	2	52	1
MUT:MSH2:Ala256Gly	PROT:P43246	MSH2	A	256	G	A256G	Benign	0	1	52	7
MUT:MSH2:Ala272Val	PROT:P43246	MSH2	A	272	V	A272V	Benign	0	8	52	23
MUT:MSH2:Ala2Thr	PROT:P43246	MSH2	A	2	T	A2T	Likely benign	0	8	52	30
MUT:MSH2:Ala327Ser	PROT:P43246	MSH2	A	327	S	A327S	Likely benign	0	1	52	5
MUT:MSH2:Ala328Ser	PROT:P43246	MSH2	A	328	S	A328S	Likely benign	0	2	52	4
MUT:MSH2:Ala328Val	PROT:P43246	MSH2	A	328	V	A328V	Likely benign	0	2	52	4
MUT:MSH2:Ala391Gly	PROT:P43246	MSH2	A	391	G	A391G	Likely benign	0	1	52	32
MUT:MSH2:Ala398Gly	PROT:P43246	MSH2	A	398	G	A398G	Likely benign	0	1	52	25
MUT:MSH2:Ala420Thr	PROT:P43246	MSH2	A	420	T	A420T	Likely benign	0	1	52	3
MUT:MSH2:Ala45Val	PROT:P43246	MSH2	A	45	V	A45V	Benign/Likely benign	0	2	52	13
MUT:MSH2:Ala573Val	PROT:P43246	MSH2	A	573	V	A573V	Likely benign	0	1	52	3
MUT:MSH2:Ala576Pro	PROT:P43246	MSH2	A	576	P	A576P	Likely benign	0	1	52	6
MUT:MSH2:Ala600Asp	PROT:P43246	MSH2	A	600	D	A600D	Likely pathogenic	1	1	52	30
MUT:MSH2:Ala600Thr	PROT:P43246	MSH2	A	600	T	A600T	Likely benign	0	1	52	30
MUT:MSH2:Ala600Val	PROT:P43246	MSH2	A	600	V	A600V	Likely pathogenic	1	2	52	30
MUT:MSH2:Ala604Asp	PROT:P43246	MSH2	A	604	D	A604D	Pathogenic/Likely pathogenic	1	2	52	31
MUT:MSH2:Ala623Gly	PROT:P43246	MSH2	A	623	G	A623G	Benign	0	1	52	12
MUT:MSH2:Ala636Pro	PROT:P43246	MSH2	A	636	P	A636P	Pathogenic	1	5	52	1
MUT:MSH2:Ala636Thr	PROT:P43246	MSH2	A	636	T	A636T	Benign	0	1	52	1
MUT:MSH2:Ala640Ser	PROT:P43246	MSH2	A	640	S	A640S	Benign/Likely benign	0	2	52	5
MUT:MSH2:Ala689Pro	PROT:P43246	MSH2	A	689	P	A689P	Likely pathogenic	1	2	52	28
MUT:MSH2:Ala700Glu	PROT:P43246	MSH2	A	700	E	A700E	Pathogenic/Likely pathogenic	1	2	52	17
MUT:MSH2:Ala763Pro	PROT:P43246	MSH2	A	763	P	A763P	Pathogenic/Likely pathogenic	1	1	52	20
MUT:MSH2:Ala834Thr	PROT:P43246	MSH2	A	834	T	A834T	Likely benign	0	4	52	11
MUT:MSH2:Ala870Glu	PROT:P43246	MSH2	A	870	E	A870E	Likely benign	0	1	52	1
MUT:MSH2:Ala917Pro	PROT:P43246	MSH2	A	917	P	A917P	Likely benign	0	1	52	1
MUT:MSH2:Ala917Val	PROT:P43246	MSH2	A	917	V	A917V	Benign	0	1	52	1
MUT:MSH2:Arg106Gly	PROT:P43246	MSH2	R	106	G	R106G	Likely benign	0	1	52	2
MUT:MSH2:Arg106Lys	PROT:P43246	MSH2	R	106	K	R106K	Benign	0	5	52	2
MUT:MSH2:Arg106Ser	PROT:P43246	MSH2	R	106	S	R106S	Likely benign	0	1	52	2
MUT:MSH2:Arg21Gly	PROT:P43246	MSH2	R	21	G	R21G	Likely benign	0	1	52	11
MUT:MSH2:Arg227Ile	PROT:P43246	MSH2	R	227	I	R227I	Likely benign	0	1	52	8
MUT:MSH2:Arg308Gly	PROT:P43246	MSH2	R	308	G	R308G	Likely benign	0	1	52	24
MUT:MSH2:Arg355Lys	PROT:P43246	MSH2	R	355	K	R355K	Likely benign	0	1	52	8
MUT:MSH2:Arg355Ser	PROT:P43246	MSH2	R	355	S	R355S	Likely benign	0	1	52	8
MUT:MSH2:Arg359Gly	PROT:P43246	MSH2	R	359	G	R359G	Likely pathogenic	1	2	52	12
MUT:MSH2:Arg359Ile	PROT:P43246	MSH2	R	359	I	R359I	Likely pathogenic	1	3	52	12
MUT:MSH2:Arg359Ser	PROT:P43246	MSH2	R	359	S	R359S	Pathogenic	1	3	52	12
MUT:MSH2:Arg359Thr	PROT:P43246	MSH2	R	359	T	R359T	Pathogenic/Likely pathogenic	1	5	52	12
MUT:MSH2:Arg35Leu	PROT:P43246	MSH2	R	35	L	R35L	Likely benign	0	1	52	3
MUT:MSH2:Arg396Lys	PROT:P43246	MSH2	R	396	K	R396K	Likely benign	0	1	52	27
MUT:MSH2:Arg396Thr	PROT:P43246	MSH2	R	396	T	R396T	Likely benign	0	1	52	27
MUT:MSH2:Arg524Pro	PROT:P43246	MSH2	R	524	P	R524P	Likely pathogenic	1	4	52	7
MUT:MSH2:Arg55Gln	PROT:P43246	MSH2	R	55	Q	R55Q	Likely benign	0	3	52	10
MUT:MSH2:Arg621Gly	PROT:P43246	MSH2	R	621	G	R621G	Pathogenic/Likely pathogenic	1	4	52	14
MUT:MSH2:Arg621Leu	PROT:P43246	MSH2	R	621	L	R621L	Pathogenic/Likely pathogenic	1	4	52	14
MUT:MSH2:Arg621Pro	PROT:P43246	MSH2	R	621	P	R621P	Pathogenic/Likely pathogenic	1	2	52	14
MUT:MSH2:Arg631Ile	PROT:P43246	MSH2	R	631	I	R631I	Benign	0	1	52	4
MUT:MSH2:Arg680Pro	PROT:P43246	MSH2	R	680	P	R680P	Pathogenic/Likely pathogenic	1	3	52	37
MUT:MSH2:Arg711Pro	PROT:P43246	MSH2	R	711	P	R711P	Pathogenic/Likely pathogenic	1	3	52	6
MUT:MSH2:Arg737Lys	PROT:P43246	MSH2	R	737	K	R737K	Likely pathogenic	1	1	52	1
MUT:MSH2:Arg929Gly	PROT:P43246	MSH2	R	929	G	R929G	Likely benign	0	1	52	8
MUT:MSH2:Arg96His	PROT:P43246	MSH2	R	96	H	R96H	Likely benign	0	5	52	8
MUT:MSH2:Arg99Ile	PROT:P43246	MSH2	R	99	I	R99I	Likely benign	0	1	52	5
MUT:MSH2:Asn109Asp	PROT:P43246	MSH2	N	109	D	N109D	Likely benign	0	2	52	1
MUT:MSH2:Asn109His	PROT:P43246	MSH2	N	109	H	N109H	Likely benign	0	1	52	1
MUT:MSH2:Asn115Lys	PROT:P43246	MSH2	N	115	K	N115K	Benign/Likely benign	0	2	52	2
MUT:MSH2:Asn115Ser	PROT:P43246	MSH2	N	115	S	N115S	Likely benign	0	1	52	2
MUT:MSH2:Asn127Ser	PROT:P43246	MSH2	N	127	S	N127S	Benign	0	14	52	14
MUT:MSH2:Asn263Asp	PROT:P43246	MSH2	N	263	D	N263D	Likely benign	0	1	52	14
MUT:MSH2:Asn311Asp	PROT:P43246	MSH2	N	311	D	N311D	Likely benign	0	1	52	21
MUT:MSH2:Asn361His	PROT:P43246	MSH2	N	361	H	N361H	Likely benign	0	1	52	14
MUT:MSH2:Asn400His	PROT:P43246	MSH2	N	400	H	N400H	Likely benign	0	1	52	23
MUT:MSH2:Asn412His	PROT:P43246	MSH2	N	412	H	N412H	Likely benign	0	1	52	11
MUT:MSH2:Asn560Asp	PROT:P43246	MSH2	N	560	D	N560D	Likely benign	0	1	52	2
MUT:MSH2:Asn583Thr	PROT:P43246	MSH2	N	583	T	N583T	Likely benign	0	2	52	13
MUT:MSH2:Asn653Ser	PROT:P43246	MSH2	N	653	S	N653S	Likely benign	0	1	52	18
MUT:MSH2:Asn671Ile	PROT:P43246	MSH2	N	671	I	N671I	Pathogenic/Likely pathogenic	1	2	52	36
MUT:MSH2:Asn671Tyr	PROT:P43246	MSH2	N	671	Y	N671Y	Likely pathogenic	1	2	52	36
MUT:MSH2:Asn798Lys	PROT:P43246	MSH2	N	798	K	N798K	Likely benign	0	2	52	47
MUT:MSH2:Asn903Asp	PROT:P43246	MSH2	N	903	D	N903D	Benign	0	1	52	3
MUT:MSH2:Asn903Lys	PROT:P43246	MSH2	N	903	K	N903K	Likely benign	0	1	52	3
MUT:MSH2:Asp133His	PROT:P43246	MSH2	D	133	H	D133H	Likely benign	0	1	52	20
MUT:MSH2:Asp167His	PROT:P43246	MSH2	D	167	H	D167H	Benign	0	6	52	5
MUT:MSH2:Asp283Tyr	PROT:P43246	MSH2	D	283	Y	D283Y	Likely benign	0	2	52	34
MUT:MSH2:Asp283Val	PROT:P43246	MSH2	D	283	V	D283V	Benign/Likely benign	0	2	52	34
MUT:MSH2:Asp295Ala	PROT:P43246	MSH2	D	295	A	D295A	Likely benign	0	1	52	37
MUT:MSH2:Asp403Glu	PROT:P43246	MSH2	D	403	E	D403E	Likely benign	0	1	52	20
MUT:MSH2:Asp446His	PROT:P43246	MSH2	D	446	H	D446H	Likely benign	0	1	52	23
MUT:MSH2:Asp487Gly	PROT:P43246	MSH2	D	487	G	D487G	Likely benign	0	1	52	4
MUT:MSH2:Asp514Asn	PROT:P43246	MSH2	D	514	N	D514N	Likely benign	0	1	52	5
MUT:MSH2:Asp543Ala	PROT:P43246	MSH2	D	543	A	D543A	Likely benign	0	1	52	6
MUT:MSH2:Asp603Gly	PROT:P43246	MSH2	D	603	G	D603G	Likely pathogenic	1	4	52	32
MUT:MSH2:Asp603Tyr	PROT:P43246	MSH2	D	603	Y	D603Y	Likely pathogenic	1	2	52	32
MUT:MSH2:Asp603Val	PROT:P43246	MSH2	D	603	V	D603V	Pathogenic/Likely pathogenic	1	2	52	32
MUT:MSH2:Asp654Asn	PROT:P43246	MSH2	D	654	N	D654N	Likely benign	0	1	52	19
MUT:MSH2:Asp660Gly	PROT:P43246	MSH2	D	660	G	D660G	Likely pathogenic	1	3	52	25
MUT:MSH2:Asp748His	PROT:P43246	MSH2	D	748	H	D748H	Likely pathogenic	1	3	52	5
MUT:MSH2:Asp748Tyr	PROT:P43246	MSH2	D	748	Y	D748Y	Likely pathogenic	1	1	52	5
MUT:MSH2:Asp864Tyr	PROT:P43246	MSH2	D	864	Y	D864Y	Likely benign	0	1	52	1
MUT:MSH2:Asp91His	PROT:P43246	MSH2	D	91	H	D91H	Likely benign	0	1	52	13
MUT:MSH2:Cys199Arg	PROT:P43246	MSH2	C	199	R	C199R	Pathogenic	1	4	52	7
MUT:MSH2:Cys199Trp	PROT:P43246	MSH2	C	199	W	C199W	Likely pathogenic	1	1	52	7
MUT:MSH2:Cys199Tyr	PROT:P43246	MSH2	C	199	Y	C199Y	Likely pathogenic	1	3	52	7
MUT:MSH2:Cys333Arg	PROT:P43246	MSH2	C	333	R	C333R	Pathogenic	1	3	52	1
MUT:MSH2:Cys333Phe	PROT:P43246	MSH2	C	333	F	C333F	Pathogenic/Likely pathogenic	1	3	52	1
MUT:MSH2:Cys333Trp	PROT:P43246	MSH2	C	333	W	C333W	Pathogenic/Likely pathogenic	1	2	52	1
MUT:MSH2:Cys333Tyr	PROT:P43246	MSH2	C	333	Y	C333Y	Pathogenic	1	4	52	1
MUT:MSH2:Cys693Tyr	PROT:P43246	MSH2	C	693	Y	C693Y	Likely pathogenic	1	2	52	24
MUT:MSH2:Cys697Arg	PROT:P43246	MSH2	C	697	R	C697R	Pathogenic	1	4	52	20
MUT:MSH2:Cys697Phe	PROT:P43246	MSH2	C	697	F	C697F	Pathogenic	1	3	52	20
MUT:MSH2:Cys697Trp	PROT:P43246	MSH2	C	697	W	C697W	Likely pathogenic	1	2	52	20
MUT:MSH2:Cys697Tyr	PROT:P43246	MSH2	C	697	Y	C697Y	Likely pathogenic	1	5	52	20
MUT:MSH2:Cys822Ser	PROT:P43246	MSH2	C	822	S	C822S	Likely benign	0	1	52	23
MUT:MSH2:Gln193Arg	PROT:P43246	MSH2	Q	193	R	Q193R	Likely benign	0	1	52	13
MUT:MSH2:Gln193Lys	PROT:P43246	MSH2	Q	193	K	Q193K	Likely benign	0	1	52	13
MUT:MSH2:Gln24Pro	PROT:P43246	MSH2	Q	24	P	Q24P	Likely benign	0	1	52	8
MUT:MSH2:Gln252Leu	PROT:P43246	MSH2	Q	252	L	Q252L	Likely benign	0	1	52	3
MUT:MSH2:Gln288Arg	PROT:P43246	MSH2	Q	288	R	Q288R	Likely benign	0	1	52	39
MUT:MSH2:Gln314His	PROT:P43246	MSH2	Q	314	H	Q314H	Likely pathogenic	1	1	52	18
MUT:MSH2:Gln344Glu	PROT:P43246	MSH2	Q	344	E	Q344E	Likely benign	0	1	52	3
MUT:MSH2:Gln377Glu	PROT:P43246	MSH2	Q	377	E	Q377E	Likely benign	0	1	52	30
MUT:MSH2:Gln397Pro	PROT:P43246	MSH2	Q	397	P	Q397P	Likely benign	0	1	52	26
MUT:MSH2:Gln419Glu	PROT:P43246	MSH2	Q	419	E	Q419E	Benign/Likely benign	0	2	52	4
MUT:MSH2:Gln419Lys	PROT:P43246	MSH2	Q	419	K	Q419K	Likely benign	0	7	52	4
MUT:MSH2:Gln4His	PROT:P43246	MSH2	Q	4	H	Q4H	Likely benign	0	1	52	28
MUT:MSH2:Gln510Arg	PROT:P43246	MSH2	Q	510	R	Q510R	Likely benign	0	1	52	1
MUT:MSH2:Gln510Pro	PROT:P43246	MSH2	Q	510	P	Q510P	Likely benign	0	1	52	1
MUT:MSH2:Gln518Glu	PROT:P43246	MSH2	Q	518	E	Q518E	Likely benign	0	1	52	9
MUT:MSH2:Gln61Arg	PROT:P43246	MSH2	Q	61	R	Q61R	Likely benign	0	1	52	4
MUT:MSH2:Gln61Lys	PROT:P43246	MSH2	Q	61	K	Q61K	Likely benign	0	1	52	4
MUT:MSH2:Gln629Arg	PROT:P43246	MSH2	Q	629	R	Q629R	Benign	0	6	52	6
MUT:MSH2:Gln662Arg	PROT:P43246	MSH2	Q	662	R	Q662R	Likely benign	0	1	52	27
MUT:MSH2:Gln690Lys	PROT:P43246	MSH2	Q	690	K	Q690K	Likely pathogenic	1	3	52	27
MUT:MSH2:Gln76Glu	PROT:P43246	MSH2	Q	76	E	Q76E	Likely benign	0	1	52	3
MUT:MSH2:Gln855His	PROT:P43246	MSH2	Q	855	H	Q855H	Benign/Likely benign	0	2	52	1
MUT:MSH2:Gln879Glu	PROT:P43246	MSH2	Q	879	E	Q879E	Likely benign	0	1	52	3
MUT:MSH2:Gln893Arg	PROT:P43246	MSH2	Q	893	R	Q893R	Likely benign	0	1	52	1
MUT:MSH2:Gln893Pro	PROT:P43246	MSH2	Q	893	P	Q893P	Likely benign	0	1	52	1
MUT:MSH2:Glu198Ala	PROT:P43246	MSH2	E	198	A	E198A	Likely pathogenic	1	1	52	8
MUT:MSH2:Glu198Gly	PROT:P43246	MSH2	E	198	G	E198G	Benign	0	4	52	8
MUT:MSH2:Glu226Lys	PROT:P43246	MSH2	E	226	K	E226K	Likely benign	0	1	52	9
MUT:MSH2:Glu28Ala	PROT:P43246	MSH2	E	28	A	E28A	Likely benign	0	1	52	4
MUT:MSH2:Glu371Asp	PROT:P43246	MSH2	E	371	D	E371D	Likely benign	0	1	52	24
MUT:MSH2:Glu378Ala	PROT:P43246	MSH2	E	378	A	E378A	Likely benign	0	1	52	31
MUT:MSH2:Glu422Gln	PROT:P43246	MSH2	E	422	Q	E422Q	Likely benign	0	1	52	1
MUT:MSH2:Glu455Ala	PROT:P43246	MSH2	E	455	A	E455A	Likely benign	0	1	52	24
MUT:MSH2:Glu455Gly	PROT:P43246	MSH2	E	455	G	E455G	Likely benign	0	1	52	24
MUT:MSH2:Glu483Gln	PROT:P43246	MSH2	E	483	Q	E483Q	Likely benign	0	1	52	4
MUT:MSH2:Glu48Gln	PROT:P43246	MSH2	E	48	Q	E48Q	Likely benign	0	1	52	16
MUT:MSH2:Glu56Gly	PROT:P43246	MSH2	E	56	G	E56G	Likely benign	0	1	52	9
MUT:MSH2:Glu571Lys	PROT:P43246	MSH2	E	571	K	E571K	Benign	0	1	52	1
MUT:MSH2:Glu701Lys	PROT:P43246	MSH2	E	701	K	E701K	Likely benign	0	1	52	16
MUT:MSH2:Glu749Gly	PROT:P43246	MSH2	E	749	G	E749G	Likely pathogenic	1	1	52	6
MUT:MSH2:Glu749Lys	PROT:P43246	MSH2	E	749	K	E749K	Likely pathogenic	1	4	52	6
MUT:MSH2:Glu7Asp	PROT:P43246	MSH2	E	7	D	E7D	Likely benign	0	1	52	25
MUT:MSH2:Glu86Gln	PROT:P43246	MSH2	E	86	Q	E86Q	Likely benign	0	2	52	13
MUT:MSH2:Glu886Asp	PROT:P43246	MSH2	E	886	D	E886D	Likely benign	0	1	52	4
MUT:MSH2:Glu886Val	PROT:P43246	MSH2	E	886	V	E886V	Likely benign	0	1	52	4
MUT:MSH2:Glu925Gly	PROT:P43246	MSH2	E	925	G	E925G	Likely benign	0	1	52	4
MUT:MSH2:Gly149Arg	PROT:P43246	MSH2	G	149	R	G149R	Likely pathogenic	1	1	52	23
MUT:MSH2:Gly162Arg	PROT:P43246	MSH2	G	162	R	G162R	Pathogenic	1	6	52	10
MUT:MSH2:Gly164Arg	PROT:P43246	MSH2	G	164	R	G164R	Pathogenic	1	5	52	8
MUT:MSH2:Gly164Glu	PROT:P43246	MSH2	G	164	E	G164E	Likely pathogenic	1	4	52	8
MUT:MSH2:Gly164Trp	PROT:P43246	MSH2	G	164	W	G164W	Pathogenic/Likely pathogenic	1	4	52	8
MUT:MSH2:Gly18Ala	PROT:P43246	MSH2	G	18	A	G18A	Likely benign	0	1	52	14
MUT:MSH2:Gly18Arg	PROT:P43246	MSH2	G	18	R	G18R	Likely benign	0	1	52	14
MUT:MSH2:Gly18Ser	PROT:P43246	MSH2	G	18	S	G18S	Likely benign	0	1	52	14
MUT:MSH2:Gly195Arg	PROT:P43246	MSH2	G	195	R	G195R	Likely benign	0	1	52	11
MUT:MSH2:Gly247Ala	PROT:P43246	MSH2	G	247	A	G247A	Likely benign	0	1	52	2
MUT:MSH2:Gly315Val	PROT:P43246	MSH2	G	315	V	G315V	Likely benign	0	7	52	17
MUT:MSH2:Gly322Asp	PROT:P43246	MSH2	G	322	D	G322D	Benign	0	7	52	10
MUT:MSH2:Gly338Arg	PROT:P43246	MSH2	G	338	R	G338R	Pathogenic/Likely pathogenic	1	4	52	6
MUT:MSH2:Gly338Asp	PROT:P43246	MSH2	G	338	D	G338D	Likely pathogenic	1	1	52	6
MUT:MSH2:Gly338Glu	PROT:P43246	MSH2	G	338	E	G338E	Pathogenic	1	3	52	6
MUT:MSH2:Gly338Val	PROT:P43246	MSH2	G	338	V	G338V	Pathogenic/Likely pathogenic	1	3	52	6
MUT:MSH2:Gly426Arg	PROT:P43246	MSH2	G	426	R	G426R	Pathogenic/Likely pathogenic	1	3	52	3
MUT:MSH2:Gly47Arg	PROT:P43246	MSH2	G	47	R	G47R	Likely benign	0	1	52	15
MUT:MSH2:Gly587Arg	PROT:P43246	MSH2	G	587	R	G587R	Pathogenic	1	4	52	17
MUT:MSH2:Gly587Cys	PROT:P43246	MSH2	G	587	C	G587C	Pathogenic	1	1	52	17
MUT:MSH2:Gly587Ser	PROT:P43246	MSH2	G	587	S	G587S	Likely pathogenic	1	2	52	17
MUT:MSH2:Gly614Arg	PROT:P43246	MSH2	G	614	R	G614R	Likely benign	0	1	52	21
MUT:MSH2:Gly62Val	PROT:P43246	MSH2	G	62	V	G62V	Likely benign	0	1	52	3
MUT:MSH2:Gly630Arg	PROT:P43246	MSH2	G	630	R	G630R	Likely benign	0	1	52	5
MUT:MSH2:Gly669Val	PROT:P43246	MSH2	G	669	V	G669V	Pathogenic	1	4	52	34
MUT:MSH2:Gly674Arg	PROT:P43246	MSH2	G	674	R	G674R	Likely pathogenic	1	3	52	39
MUT:MSH2:Gly674Asp	PROT:P43246	MSH2	G	674	D	G674D	Likely pathogenic	1	3	52	39
MUT:MSH2:Gly674Ser	PROT:P43246	MSH2	G	674	S	G674S	Likely pathogenic	1	2	52	39
MUT:MSH2:Gly674Val	PROT:P43246	MSH2	G	674	V	G674V	Likely pathogenic	1	1	52	39
MUT:MSH2:Gly683Arg	PROT:P43246	MSH2	G	683	R	G683R	Pathogenic	1	4	52	34
MUT:MSH2:Gly692Arg	PROT:P43246	MSH2	G	692	R	G692R	Likely pathogenic	1	3	52	25
MUT:MSH2:Gly692Trp	PROT:P43246	MSH2	G	692	W	G692W	Pathogenic/Likely pathogenic	1	4	52	25
MUT:MSH2:Gly692Val	PROT:P43246	MSH2	G	692	V	G692V	Likely pathogenic	1	4	52	25
MUT:MSH2:Gly715Ser	PROT:P43246	MSH2	G	715	S	G715S	Likely benign	0	1	52	2
MUT:MSH2:Gly71Arg	PROT:P43246	MSH2	G	71	R	G71R	Pathogenic/Likely pathogenic	1	5	52	2
MUT:MSH2:Gly751Arg	PROT:P43246	MSH2	G	751	R	G751R	Pathogenic	1	4	52	8
MUT:MSH2:Gly761Arg	PROT:P43246	MSH2	G	761	R	G761R	Pathogenic/Likely pathogenic	1	4	52	18
MUT:MSH2:His46Gln	PROT:P43246	MSH2	H	46	Q	H46Q	Likely benign	0	8	52	14
MUT:MSH2:His610Pro	PROT:P43246	MSH2	H	610	P	H610P	Likely pathogenic	1	2	52	25
MUT:MSH2:His639Tyr	PROT:P43246	MSH2	H	639	Y	H639Y	Pathogenic	1	4	52	4
MUT:MSH2:His665Arg	PROT:P43246	MSH2	H	665	R	H665R	Likely benign	0	1	52	30
MUT:MSH2:His665Leu	PROT:P43246	MSH2	H	665	L	H665L	Likely benign	0	1	52	30
MUT:MSH2:His785Asp	PROT:P43246	MSH2	H	785	D	H785D	Likely benign	0	1	52	42
MUT:MSH2:His801Pro	PROT:P43246	MSH2	H	801	P	H801P	Likely pathogenic	1	2	52	44
MUT:MSH2:Ile145Phe	PROT:P43246	MSH2	I	145	F	I145F	Likely benign	0	1	52	27
MUT:MSH2:Ile169Val	PROT:P43246	MSH2	I	169	V	I169V	Likely benign	0	7	52	3
MUT:MSH2:Ile194Asn	PROT:P43246	MSH2	I	194	N	I194N	Likely benign	0	1	52	12
MUT:MSH2:Ile217Val	PROT:P43246	MSH2	I	217	V	I217V	Benign	0	1	52	5
MUT:MSH2:Ile222Phe	PROT:P43246	MSH2	I	222	F	I222F	Likely benign	0	1	52	10
MUT:MSH2:Ile237Phe	PROT:P43246	MSH2	I	237	F	I237F	Likely benign	0	1	52	1
MUT:MSH2:Ile304Met	PROT:P43246	MSH2	I	304	M	I304M	Likely benign	0	1	52	28
MUT:MSH2:Ile356Arg	PROT:P43246	MSH2	I	356	R	I356R	Pathogenic/Likely pathogenic	1	3	52	9
MUT:MSH2:Ile356Lys	PROT:P43246	MSH2	I	356	K	I356K	Pathogenic/Likely pathogenic	1	3	52	9
MUT:MSH2:Ile411Arg	PROT:P43246	MSH2	I	411	R	I411R	Likely pathogenic	1	1	52	12
MUT:MSH2:Ile411Leu	PROT:P43246	MSH2	I	411	L	I411L	Likely benign	0	1	52	12
MUT:MSH2:Ile454Arg	PROT:P43246	MSH2	I	454	R	I454R	Pathogenic/Likely pathogenic	1	4	52	25
MUT:MSH2:Ile454Lys	PROT:P43246	MSH2	I	454	K	I454K	Likely pathogenic	1	1	52	25
MUT:MSH2:Ile511Thr	PROT:P43246	MSH2	I	511	T	I511T	Likely benign	0	1	52	2
MUT:MSH2:Ile544Phe	PROT:P43246	MSH2	I	544	F	I544F	Likely benign	0	1	52	6
MUT:MSH2:Ile577Thr	PROT:P43246	MSH2	I	577	T	I577T	Likely benign	0	6	52	7
MUT:MSH2:Ile584Val	PROT:P43246	MSH2	I	584	V	I584V	Likely benign	0	2	52	14
MUT:MSH2:Ile632Ser	PROT:P43246	MSH2	I	632	S	I632S	Likely benign	0	1	52	3
MUT:MSH2:Ile648Val	PROT:P43246	MSH2	I	648	V	I648V	Benign/Likely benign	0	2	52	13
MUT:MSH2:Ile667Met	PROT:P43246	MSH2	I	667	M	I667M	Likely benign	0	1	52	32
MUT:MSH2:Ile685Arg	PROT:P43246	MSH2	I	685	R	I685R	Pathogenic/Likely pathogenic	1	3	52	32
MUT:MSH2:Ile708Asn	PROT:P43246	MSH2	I	708	N	I708N	Likely pathogenic	1	2	52	9
MUT:MSH2:Ile774Val	PROT:P43246	MSH2	I	774	V	I774V	Pathogenic/Likely pathogenic	1	5	52	31
MUT:MSH2:Ile857Leu	PROT:P43246	MSH2	I	857	L	I857L	Likely benign	0	1	52	1
MUT:MSH2:Ile930Lys	PROT:P43246	MSH2	I	930	K	I930K	Likely benign	0	2	52	9
MUT:MSH2:Leu128Ile	PROT:P43246	MSH2	L	128	I	L128I	Likely benign	0	1	52	15
MUT:MSH2:Leu128Pro	PROT:P43246	MSH2	L	128	P	L128P	Likely benign	0	1	52	15
MUT:MSH2:Leu173Arg	PROT:P43246	MSH2	L	173	R	L173R	Pathogenic	1	3	52	1
MUT:MSH2:Leu173Pro	PROT:P43246	MSH2	L	173	P	L173P	Pathogenic/Likely pathogenic	1	5	52	1
MUT:MSH2:Leu175Pro	PROT:P43246	MSH2	L	175	P	L175P	Pathogenic/Likely pathogenic	1	4	52	3
MUT:MSH2:Leu187Arg	PROT:P43246	MSH2	L	187	R	L187R	Pathogenic	1	4	52	15
MUT:MSH2:Leu187His	PROT:P43246	MSH2	L	187	H	L187H	Likely pathogenic	1	1	52	15
MUT:MSH2:Leu187Pro	PROT:P43246	MSH2	L	187	P	L187P	Pathogenic	1	5	52	15
MUT:MSH2:Leu190Pro	PROT:P43246	MSH2	L	190	P	L190P	Likely pathogenic	1	1	52	16
MUT:MSH2:Leu191Arg	PROT:P43246	MSH2	L	191	R	L191R	Likely pathogenic	1	1	52	15
MUT:MSH2:Leu241Val	PROT:P43246	MSH2	L	241	V	L241V	Likely benign	0	1	52	3
MUT:MSH2:Leu270Arg	PROT:P43246	MSH2	L	270	R	L270R	Likely pathogenic	1	1	52	21
MUT:MSH2:Leu270Pro	PROT:P43246	MSH2	L	270	P	L270P	Pathogenic/Likely pathogenic	1	3	52	21
MUT:MSH2:Leu280Ser	PROT:P43246	MSH2	L	280	S	L280S	Likely benign	0	1	52	31
MUT:MSH2:Leu310Arg	PROT:P43246	MSH2	L	310	R	L310R	Pathogenic	1	3	52	22
MUT:MSH2:Leu310Pro	PROT:P43246	MSH2	L	310	P	L310P	Pathogenic	1	3	52	22
MUT:MSH2:Leu330Arg	PROT:P43246	MSH2	L	330	R	L330R	Likely pathogenic	1	1	52	2
MUT:MSH2:Leu330Pro	PROT:P43246	MSH2	L	330	P	L330P	Pathogenic	1	3	52	2
MUT:MSH2:Leu341Pro	PROT:P43246	MSH2	L	341	P	L341P	Likely pathogenic	1	2	52	6
MUT:MSH2:Leu360Met	PROT:P43246	MSH2	L	360	M	L360M	Likely benign	0	1	52	13
MUT:MSH2:Leu376Ser	PROT:P43246	MSH2	L	376	S	L376S	Likely benign	0	2	52	29
MUT:MSH2:Leu390Phe	PROT:P43246	MSH2	L	390	F	L390F	Benign	0	6	52	33
MUT:MSH2:Leu401Phe	PROT:P43246	MSH2	L	401	F	L401F	Likely benign	0	1	52	22
MUT:MSH2:Leu414Pro	PROT:P43246	MSH2	L	414	P	L414P	Likely pathogenic	1	1	52	9
MUT:MSH2:Leu432Phe	PROT:P43246	MSH2	L	432	F	L432F	Likely benign	0	1	52	9
MUT:MSH2:Leu440Arg	PROT:P43246	MSH2	L	440	R	L440R	Likely pathogenic	1	3	52	17
MUT:MSH2:Leu440Pro	PROT:P43246	MSH2	L	440	P	L440P	Pathogenic	1	3	52	17
MUT:MSH2:Leu478Arg	PROT:P43246	MSH2	L	478	R	L478R	Likely pathogenic	1	3	52	1
MUT:MSH2:Leu488Met	PROT:P43246	MSH2	L	488	M	L488M	Likely benign	0	1	52	3
MUT:MSH2:Leu51Pro	PROT:P43246	MSH2	L	51	P	L51P	Likely benign	0	1	52	14
MUT:MSH2:Leu556Ser	PROT:P43246	MSH2	L	556	S	L556S	Pathogenic/Likely pathogenic	1	3	52	1
MUT:MSH2:Leu556Trp	PROT:P43246	MSH2	L	556	W	L556W	Likely pathogenic	1	5	52	1
MUT:MSH2:Leu595Arg	PROT:P43246	MSH2	L	595	R	L595R	Pathogenic	1	3	52	25
MUT:MSH2:Leu595Pro	PROT:P43246	MSH2	L	595	P	L595P	Pathogenic/Likely pathogenic	1	2	52	25
MUT:MSH2:Leu602Pro	PROT:P43246	MSH2	L	602	P	L602P	Likely pathogenic	1	4	52	32
MUT:MSH2:Leu687Arg	PROT:P43246	MSH2	L	687	R	L687R	Likely pathogenic	1	3	52	30
MUT:MSH2:Leu687Pro	PROT:P43246	MSH2	L	687	P	L687P	Pathogenic/Likely pathogenic	1	4	52	30
MUT:MSH2:Leu744Ile	PROT:P43246	MSH2	L	744	I	L744I	Likely benign	0	1	52	1
MUT:MSH2:Leu787Arg	PROT:P43246	MSH2	L	787	R	L787R	Pathogenic/Likely pathogenic	1	3	52	44
MUT:MSH2:Leu787Ile	PROT:P43246	MSH2	L	787	I	L787I	Likely benign	0	1	52	44
MUT:MSH2:Leu800Val	PROT:P43246	MSH2	L	800	V	L800V	Likely benign	0	1	52	45
MUT:MSH2:Leu93Phe	PROT:P43246	MSH2	L	93	F	L93F	Likely pathogenic	1	3	52	11
MUT:MSH2:Lys104Glu	PROT:P43246	MSH2	K	104	E	K104E	Likely benign	0	1	52	0
MUT:MSH2:Lys122Thr	PROT:P43246	MSH2	K	122	T	K122T	Likely benign	0	1	52	9
MUT:MSH2:Lys172Asn	PROT:P43246	MSH2	K	172	N	K172N	Likely benign	0	1	52	0
MUT:MSH2:Lys212Arg	PROT:P43246	MSH2	K	212	R	K212R	Likely benign	0	1	52	0
MUT:MSH2:Lys249Glu	PROT:P43246	MSH2	K	249	E	K249E	Likely benign	0	1	52	0
MUT:MSH2:Lys29Arg	PROT:P43246	MSH2	K	29	R	K29R	Likely benign	0	1	52	3
MUT:MSH2:Lys332Arg	PROT:P43246	MSH2	K	332	R	K332R	Likely benign	0	1	52	0
MUT:MSH2:Lys423Arg	PROT:P43246	MSH2	K	423	R	K423R	Likely benign	0	1	52	0
MUT:MSH2:Lys430Gln	PROT:P43246	MSH2	K	430	Q	K430Q	Likely benign	0	1	52	7
MUT:MSH2:Lys430Glu	PROT:P43246	MSH2	K	430	E	K430E	Likely benign	0	1	52	7
MUT:MSH2:Lys537Asn	PROT:P43246	MSH2	K	537	N	K537N	Likely benign	0	1	52	0
MUT:MSH2:Lys537Thr	PROT:P43246	MSH2	K	537	T	K537T	Likely benign	0	1	52	0
MUT:MSH2:Lys635Thr	PROT:P43246	MSH2	K	635	T	K635T	Likely benign	0	1	52	0
MUT:MSH2:Lys65Glu	PROT:P43246	MSH2	K	65	E	K65E	Likely benign	0	2	52	0
MUT:MSH2:Lys6Gln	PROT:P43246	MSH2	K	6	Q	K6Q	Likely benign	0	1	52	26
MUT:MSH2:Lys73Gln	PROT:P43246	MSH2	K	73	Q	K73Q	Likely benign	0	1	52	0
MUT:MSH2:Lys773Glu	PROT:P43246	MSH2	K	773	E	K773E	Likely benign	0	2	52	30
MUT:MSH2:Lys819Ile	PROT:P43246	MSH2	K	819	I	K819I	Likely benign	0	1	52	26
MUT:MSH2:Lys845Gln	PROT:P43246	MSH2	K	845	Q	K845Q	Likely benign	0	1	52	0
MUT:MSH2:Lys882Glu	PROT:P43246	MSH2	K	882	E	K882E	Likely benign	0	1	52	0
MUT:MSH2:Met210Ile	PROT:P43246	MSH2	M	210	I	M210I	Benign/Likely benign	0	2	52	2
MUT:MSH2:Met253Leu	PROT:P43246	MSH2	M	253	L	M253L	Benign	0	1	52	4
MUT:MSH2:Met453Lys	PROT:P43246	MSH2	M	453	K	M453K	Pathogenic	1	1	52	26
MUT:MSH2:Met688Arg	PROT:P43246	MSH2	M	688	R	M688R	Pathogenic	1	5	52	29
MUT:MSH2:Met866Val	PROT:P43246	MSH2	M	866	V	M866V	Likely benign	0	1	52	3
MUT:MSH2:Met894Arg	PROT:P43246	MSH2	M	894	R	M894R	Likely benign	0	1	52	2
MUT:MSH2:Met899Leu	PROT:P43246	MSH2	M	899	L	M899L	Likely benign	0	1	52	1
MUT:MSH2:Phe131Tyr	PROT:P43246	MSH2	F	131	Y	F131Y	Likely benign	0	1	52	18
MUT:MSH2:Phe296Ser	PROT:P43246	MSH2	F	296	S	F296S	Likely benign	0	1	52	36
MUT:MSH2:Phe523Ser	PROT:P43246	MSH2	F	523	S	F523S	Likely pathogenic	1	2	52	8
MUT:MSH2:Phe694Ile	PROT:P43246	MSH2	F	694	I	F694I	Likely pathogenic	1	3	52	23
MUT:MSH2:Phe694Ser	PROT:P43246	MSH2	F	694	S	F694S	Pathogenic/Likely pathogenic	1	3	52	23
MUT:MSH2:Phe85Val	PROT:P43246	MSH2	F	85	V	F85V	Likely benign	0	1	52	12
MUT:MSH2:Pro125Ser	PROT:P43246	MSH2	P	125	S	P125S	Likely benign	0	1	52	12
MUT:MSH2:Pro349Arg	PROT:P43246	MSH2	P	349	R	P349R	Pathogenic	1	4	52	2
MUT:MSH2:Pro349His	PROT:P43246	MSH2	P	349	H	P349H	Likely pathogenic	1	1	52	2
MUT:MSH2:Pro349Leu	PROT:P43246	MSH2	P	349	L	P349L	Pathogenic	1	4	52	2
MUT:MSH2:Pro349Thr	PROT:P43246	MSH2	P	349	T	P349T	Likely pathogenic	1	3	52	2
MUT:MSH2:Pro415His	PROT:P43246	MSH2	P	415	H	P415H	Likely benign	0	1	52	8
MUT:MSH2:Pro507Leu	PROT:P43246	MSH2	P	507	L	P507L	Likely benign	0	1	52	2
MUT:MSH2:Pro616Leu	PROT:P43246	MSH2	P	616	L	P616L	Likely benign	0	1	52	19
MUT:MSH2:Pro622Arg	PROT:P43246	MSH2	P	622	R	P622R	Pathogenic/Likely pathogenic	1	3	52	13
MUT:MSH2:Pro622Gln	PROT:P43246	MSH2	P	622	Q	P622Q	Likely pathogenic	1	4	52	13
MUT:MSH2:Pro622Leu	PROT:P43246	MSH2	P	622	L	P622L	Pathogenic	1	4	52	13
MUT:MSH2:Pro622Thr	PROT:P43246	MSH2	P	622	T	P622T	Pathogenic/Likely pathogenic	1	3	52	13
MUT:MSH2:Pro652Arg	PROT:P43246	MSH2	P	652	R	P652R	Likely benign	0	1	52	17
MUT:MSH2:Pro652His	PROT:P43246	MSH2	P	652	H	P652H	Likely pathogenic	1	1	52	17
MUT:MSH2:Pro670Arg	PROT:P43246	MSH2	P	670	R	P670R	Likely benign	0	2	52	35
MUT:MSH2:Pro696Arg	PROT:P43246	MSH2	P	696	R	P696R	Likely pathogenic	1	1	52	21
MUT:MSH2:Pro696Gln	PROT:P43246	MSH2	P	696	Q	P696Q	Likely pathogenic	1	1	52	21
MUT:MSH2:Pro696Leu	PROT:P43246	MSH2	P	696	L	P696L	Pathogenic	1	5	52	21
MUT:MSH2:Pro795Ser	PROT:P43246	MSH2	P	795	S	P795S	Likely benign	0	1	52	50
MUT:MSH2:Pro895Ser	PROT:P43246	MSH2	P	895	S	P895S	Likely benign	0	2	52	2
MUT:MSH2:Ser129Pro	PROT:P43246	MSH2	S	129	P	S129P	Likely benign	0	1	52	16
MUT:MSH2:Ser153Ala	PROT:P43246	MSH2	S	153	A	S153A	Likely benign	0	1	52	19
MUT:MSH2:Ser185Pro	PROT:P43246	MSH2	S	185	P	S185P	Likely benign	0	1	52	13
MUT:MSH2:Ser269Leu	PROT:P43246	MSH2	S	269	L	S269L	Likely pathogenic	1	2	52	20
MUT:MSH2:Ser271Phe	PROT:P43246	MSH2	S	271	F	S271F	Likely benign	0	1	52	22
MUT:MSH2:Ser281Leu	PROT:P43246	MSH2	S	281	L	S281L	Likely benign	0	2	52	32
MUT:MSH2:Ser297Thr	PROT:P43246	MSH2	S	297	T	S297T	Likely benign	0	1	52	35
MUT:MSH2:Ser316Trp	PROT:P43246	MSH2	S	316	W	S316W	Likely benign	0	1	52	16
MUT:MSH2:Ser473Ala	PROT:P43246	MSH2	S	473	A	S473A	Likely benign	0	1	52	6
MUT:MSH2:Ser479Asn	PROT:P43246	MSH2	S	479	N	S479N	Benign/Likely benign	0	2	52	0
MUT:MSH2:Ser498Gly	PROT:P43246	MSH2	S	498	G	S498G	Likely benign	0	1	52	7
MUT:MSH2:Ser516Thr	PROT:P43246	MSH2	S	516	T	S516T	Likely benign	0	1	52	7
MUT:MSH2:Ser554Asn	PROT:P43246	MSH2	S	554	N	S554N	Pathogenic/Likely pathogenic	1	4	52	1
MUT:MSH2:Ser554Cys	PROT:P43246	MSH2	S	554	C	S554C	Pathogenic	1	1	52	1
MUT:MSH2:Ser554Gly	PROT:P43246	MSH2	S	554	G	S554G	Pathogenic	1	4	52	1
MUT:MSH2:Ser554Ile	PROT:P43246	MSH2	S	554	I	S554I	Likely pathogenic	1	1	52	1
MUT:MSH2:Ser554Thr	PROT:P43246	MSH2	S	554	T	S554T	Pathogenic	1	4	52	1
MUT:MSH2:Ser585Ala	PROT:P43246	MSH2	S	585	A	S585A	Likely benign	0	1	52	15
MUT:MSH2:Ser612Pro	PROT:P43246	MSH2	S	612	P	S612P	Likely benign	0	1	52	23
MUT:MSH2:Ser676Leu	PROT:P43246	MSH2	S	676	L	S676L	Likely pathogenic	1	2	52	41
MUT:MSH2:Ser717Gly	PROT:P43246	MSH2	S	717	G	S717G	Likely benign	0	1	52	0
MUT:MSH2:Ser860Leu	PROT:P43246	MSH2	S	860	L	S860L	Likely benign	0	5	52	0
MUT:MSH2:Ser860Trp	PROT:P43246	MSH2	S	860	W	S860W	Likely benign	0	1	52	0
MUT:MSH2:Ser928Leu	PROT:P43246	MSH2	S	928	L	S928L	Likely benign	0	1	52	7
MUT:MSH2:Thr234Lys	PROT:P43246	MSH2	T	234	K	T234K	Likely benign	0	1	52	1
MUT:MSH2:Thr292Ile	PROT:P43246	MSH2	T	292	I	T292I	Likely benign	0	1	52	40
MUT:MSH2:Thr31Ile	PROT:P43246	MSH2	T	31	I	T31I	Likely benign	0	2	52	1
MUT:MSH2:Thr31Pro	PROT:P43246	MSH2	T	31	P	T31P	Likely benign	0	1	52	1
MUT:MSH2:Thr335Pro	PROT:P43246	MSH2	T	335	P	T335P	Likely pathogenic	1	1	52	3
MUT:MSH2:Thr456Arg	PROT:P43246	MSH2	T	456	R	T456R	Likely benign	0	1	52	23
MUT:MSH2:Thr495Lys	PROT:P43246	MSH2	T	495	K	T495K	Likely benign	0	1	52	4
MUT:MSH2:Thr541Asn	PROT:P43246	MSH2	T	541	N	T541N	Likely benign	0	1	52	4
MUT:MSH2:Thr564Ala	PROT:P43246	MSH2	T	564	A	T564A	Benign	0	7	52	1
MUT:MSH2:Thr594Ala	PROT:P43246	MSH2	T	594	A	T594A	Benign/Likely benign	0	2	52	24
MUT:MSH2:Thr594Ser	PROT:P43246	MSH2	T	594	S	T594S	Likely benign	0	1	52	24
MUT:MSH2:Thr60Ser	PROT:P43246	MSH2	T	60	S	T60S	Likely benign	0	1	52	5
MUT:MSH2:Thr677Arg	PROT:P43246	MSH2	T	677	R	T677R	Pathogenic/Likely pathogenic	1	4	52	40
MUT:MSH2:Thr732Pro	PROT:P43246	MSH2	T	732	P	T732P	Likely pathogenic	1	1	52	0
MUT:MSH2:Thr754Pro	PROT:P43246	MSH2	T	754	P	T754P	Likely pathogenic	1	1	52	11
MUT:MSH2:Thr8Met	PROT:P43246	MSH2	T	8	M	T8M	Benign	0	6	52	24
MUT:MSH2:Thr905Arg	PROT:P43246	MSH2	T	905	R	T905R	Likely benign	0	4	52	5
MUT:MSH2:Thr905Pro	PROT:P43246	MSH2	T	905	P	T905P	Likely benign	0	1	52	5
MUT:MSH2:Thr934Ala	PROT:P43246	MSH2	T	934	A	T934A	Likely benign	0	2	52	13
MUT:MSH2:Trp345Arg	PROT:P43246	MSH2	W	345	R	W345R	Likely pathogenic	1	1	52	2
MUT:MSH2:Tyr165Asp	PROT:P43246	MSH2	Y	165	D	Y165D	Likely pathogenic	1	3	52	7
MUT:MSH2:Tyr299Asn	PROT:P43246	MSH2	Y	299	N	Y299N	Likely benign	0	1	52	33
MUT:MSH2:Tyr408Phe	PROT:P43246	MSH2	Y	408	F	Y408F	Likely benign	0	3	52	15
MUT:MSH2:Tyr619His	PROT:P43246	MSH2	Y	619	H	Y619H	Likely benign	0	1	52	16
MUT:MSH2:Tyr656Asn	PROT:P43246	MSH2	Y	656	N	Y656N	Benign	0	1	52	21
MUT:MSH2:Tyr66Cys	PROT:P43246	MSH2	Y	66	C	Y66C	Likely benign	0	1	52	1
MUT:MSH2:Tyr66His	PROT:P43246	MSH2	Y	66	H	Y66H	Likely benign	0	1	52	1
MUT:MSH2:Tyr863Asp	PROT:P43246	MSH2	Y	863	D	Y863D	Likely benign	0	1	52	0
MUT:MSH2:Val102Ile	PROT:P43246	MSH2	V	102	I	V102I	Likely benign	0	5	52	2
MUT:MSH2:Val161Asp	PROT:P43246	MSH2	V	161	D	V161D	Pathogenic	1	2	52	11
MUT:MSH2:Val163Asp	PROT:P43246	MSH2	V	163	D	V163D	Pathogenic	1	4	52	9
MUT:MSH2:Val163Gly	PROT:P43246	MSH2	V	163	G	V163G	Pathogenic	1	2	52	9
MUT:MSH2:Val166Ala	PROT:P43246	MSH2	V	166	A	V166A	Likely benign	0	1	52	6
MUT:MSH2:Val200Asp	PROT:P43246	MSH2	V	200	D	V200D	Pathogenic	1	3	52	6
MUT:MSH2:Val267Ala	PROT:P43246	MSH2	V	267	A	V267A	Likely benign	0	1	52	18
MUT:MSH2:Val267Ile	PROT:P43246	MSH2	V	267	I	V267I	Likely benign	0	1	52	18
MUT:MSH2:Val267Leu	PROT:P43246	MSH2	V	267	L	V267L	Likely benign	0	1	52	18
MUT:MSH2:Val307Ile	PROT:P43246	MSH2	V	307	I	V307I	Likely benign	0	1	52	25
MUT:MSH2:Val317Ala	PROT:P43246	MSH2	V	317	A	V317A	Likely benign	0	1	52	15
MUT:MSH2:Val317Ile	PROT:P43246	MSH2	V	317	I	V317I	Benign/Likely benign	0	2	52	15
MUT:MSH2:Val367Ile	PROT:P43246	MSH2	V	367	I	V367I	Benign/Likely benign	0	3	52	20
MUT:MSH2:Val3Leu	PROT:P43246	MSH2	V	3	L	V3L	Benign	0	4	52	29
MUT:MSH2:Val437Glu	PROT:P43246	MSH2	V	437	E	V437E	Likely benign	0	1	52	14
MUT:MSH2:Val532Phe	PROT:P43246	MSH2	V	532	F	V532F	Likely benign	0	1	52	1
MUT:MSH2:Val57Ala	PROT:P43246	MSH2	V	57	A	V57A	Likely benign	0	1	52	8
MUT:MSH2:Val606Ile	PROT:P43246	MSH2	V	606	I	V606I	Likely benign	0	1	52	29
MUT:MSH2:Val611Ala	PROT:P43246	MSH2	V	611	A	V611A	Likely benign	0	1	52	24
MUT:MSH2:Val617Ala	PROT:P43246	MSH2	V	617	A	V617A	Likely benign	0	1	52	18
MUT:MSH2:Val617Ile	PROT:P43246	MSH2	V	617	I	V617I	Likely benign	0	1	52	18
MUT:MSH2:Val644Ile	PROT:P43246	MSH2	V	644	I	V644I	Likely benign	0	1	52	9
MUT:MSH2:Val644Phe	PROT:P43246	MSH2	V	644	F	V644F	Likely benign	0	1	52	9
MUT:MSH2:Val655Leu	PROT:P43246	MSH2	V	655	L	V655L	Likely benign	0	1	52	20
MUT:MSH2:Val684Met	PROT:P43246	MSH2	V	684	M	V684M	Likely benign	0	1	52	33
MUT:MSH2:Val695Met	PROT:P43246	MSH2	V	695	M	V695M	Pathogenic	1	4	52	22
MUT:MSH2:Val923Leu	PROT:P43246	MSH2	V	923	L	V923L	Likely benign	0	1	52	2
MUT:MSH2:Val95Leu	PROT:P43246	MSH2	V	95	L	V95L	Likely benign	0	1	52	9
MUT:MSH4:Ala217Val	PROT:O15457	MSH4	A	217	V	A217V	Likely benign	0	1	2	147
MUT:MSH4:Ala802Val	PROT:O15457	MSH4	A	802	V	A802V	Likely benign	0	1	2	63
MUT:MSH4:Ala97Thr	PROT:O15457	MSH4	A	97	T	A97T	Benign	0	2	2	267
MUT:MSH4:Ile355Val	PROT:O15457	MSH4	I	355	V	I355V	Likely pathogenic	1	1	2	9
MUT:MSH4:Met619Val	PROT:O15457	MSH4	M	619	V	M619V	Likely pathogenic	1	1	2	246
MUT:MSH4:Ser754Leu	PROT:O15457	MSH4	S	754	L	S754L	Pathogenic/Likely pathogenic	1	5	2	111
MUT:MSH4:Thr342Ile	PROT:O15457	MSH4	T	342	I	T342I	Likely pathogenic	1	1	2	22
MUT:MSH4:Thr792Ala	PROT:O15457	MSH4	T	792	A	T792A	Likely pathogenic	1	1	2	73
MUT:MSH5:Arg276Cys	PROT:O43196	MSH5	R	276	C	R276C	Likely pathogenic	1	1	1	208
MUT:MSH5:Arg322Cys	PROT:O43196	MSH5	R	322	C	R322C	Likely pathogenic	1	2	1	162
MUT:MSH5:Asp487Tyr	PROT:O43196	MSH5	D	487	Y	D487Y	Pathogenic	1	1	1	3
MUT:MSH5:Leu85Phe	PROT:O43196	MSH5	L	85	F	L85F	Benign	0	1	1	399
MUT:MSH5:Lys603Arg	PROT:O43196	MSH5	K	603	R	K603R	Benign	0	1	1	119
MUT:MSH5:Pro29Ser	PROT:O43196	MSH5	P	29	S	P29S	Benign	0	1	1	455
MUT:MSH5:Pro786Ser	PROT:O43196	MSH5	P	786	S	P786S	Benign	0	1	1	302
MUT:MSH6:Ala1055Pro	PROT:P52701	MSH6	A	1055	P	A1055P	Likely pathogenic	1	4	106	25
MUT:MSH6:Ala1151Asp	PROT:P52701	MSH6	A	1151	D	A1151D	Likely pathogenic	1	1	106	11
MUT:MSH6:Ala1198Pro	PROT:P52701	MSH6	A	1198	P	A1198P	Likely pathogenic	1	1	106	21
MUT:MSH6:Ala20Pro	PROT:P52701	MSH6	A	20	P	A20P	Likely benign	0	1	106	2
MUT:MSH6:Ala20Val	PROT:P52701	MSH6	A	20	V	A20V	Likely benign	0	7	106	2
MUT:MSH6:Ala350Val	PROT:P52701	MSH6	A	350	V	A350V	Benign/Likely benign	0	4	106	2
MUT:MSH6:Ala37Ser	PROT:P52701	MSH6	A	37	S	A37S	Likely benign	0	1	106	4
MUT:MSH6:Ala49Asp	PROT:P52701	MSH6	A	49	D	A49D	Likely benign	0	1	106	2
MUT:MSH6:Ala81Thr	PROT:P52701	MSH6	A	81	T	A81T	Likely benign	0	3	106	2
MUT:MSH6:Ala879Gly	PROT:P52701	MSH6	A	879	G	A879G	Benign	0	1	106	4
MUT:MSH6:Arg1076Cys	PROT:P52701	MSH6	R	1076	C	R1076C	Likely pathogenic	1	14	106	9
MUT:MSH6:Arg1076Gly	PROT:P52701	MSH6	R	1076	G	R1076G	Pathogenic/Likely pathogenic	1	3	106	9
MUT:MSH6:Arg1242Gly	PROT:P52701	MSH6	R	1242	G	R1242G	Likely pathogenic	1	1	106	2
MUT:MSH6:Arg1242His	PROT:P52701	MSH6	R	1242	H	R1242H	Pathogenic/Likely pathogenic	1	5	106	2
MUT:MSH6:Arg1304Lys	PROT:P52701	MSH6	R	1304	K	R1304K	Likely benign	0	5	106	8
MUT:MSH6:Arg1334Gln	PROT:P52701	MSH6	R	1334	Q	R1334Q	Pathogenic	1	5	106	9
MUT:MSH6:Arg1334Leu	PROT:P52701	MSH6	R	1334	L	R1334L	Likely pathogenic	1	2	106	9
MUT:MSH6:Arg1334Pro	PROT:P52701	MSH6	R	1334	P	R1334P	Pathogenic/Likely pathogenic	1	4	106	9
MUT:MSH6:Arg468His	PROT:P52701	MSH6	R	468	H	R468H	Likely benign	0	6	106	8
MUT:MSH6:Arg482Pro	PROT:P52701	MSH6	R	482	P	R482P	Likely pathogenic	1	1	106	3
MUT:MSH6:Arg772Leu	PROT:P52701	MSH6	R	772	L	R772L	Likely pathogenic	1	1	106	1
MUT:MSH6:Arg772Trp	PROT:P52701	MSH6	R	772	W	R772W	Pathogenic	1	6	106	1
MUT:MSH6:Arg922Gln	PROT:P52701	MSH6	R	922	Q	R922Q	Likely benign	0	3	106	1
MUT:MSH6:Asn1136Lys	PROT:P52701	MSH6	N	1136	K	N1136K	Likely pathogenic	1	1	106	4
MUT:MSH6:Asn741Ser	PROT:P52701	MSH6	N	741	S	N741S	Likely benign	0	1	106	13
MUT:MSH6:Asp1058His	PROT:P52701	MSH6	D	1058	H	D1058H	Likely pathogenic	1	5	106	27
MUT:MSH6:Asp1058Tyr	PROT:P52701	MSH6	D	1058	Y	D1058Y	Likely pathogenic	1	1	106	27
MUT:MSH6:Asp439Gly	PROT:P52701	MSH6	D	439	G	D439G	Pathogenic/Likely pathogenic	1	2	106	37
MUT:MSH6:Asp880Glu	PROT:P52701	MSH6	D	880	E	D880E	Likely benign	0	2	106	3
MUT:MSH6:Asp913Gly	PROT:P52701	MSH6	D	913	G	D913G	Likely benign	0	1	106	7
MUT:MSH6:Cys1129Gly	PROT:P52701	MSH6	C	1129	G	C1129G	Likely benign	0	1	106	11
MUT:MSH6:Cys426Phe	PROT:P52701	MSH6	C	426	F	C426F	Likely benign	0	1	106	50
MUT:MSH6:Cys496Tyr	PROT:P52701	MSH6	C	496	Y	C496Y	Likely benign	0	4	106	2
MUT:MSH6:Cys694Arg	PROT:P52701	MSH6	C	694	R	C694R	Pathogenic/Likely pathogenic	1	3	106	1
MUT:MSH6:Gln1155Arg	PROT:P52701	MSH6	Q	1155	R	Q1155R	Likely pathogenic	1	1	106	15
MUT:MSH6:Gln232Arg	PROT:P52701	MSH6	Q	232	R	Q232R	Likely benign	0	1	106	5
MUT:MSH6:Gln244Arg	PROT:P52701	MSH6	Q	244	R	Q244R	Benign	0	1	106	8
MUT:MSH6:Glu1163Val	PROT:P52701	MSH6	E	1163	V	E1163V	Likely benign	0	11	106	23
MUT:MSH6:Glu1193Lys	PROT:P52701	MSH6	E	1193	K	E1193K	Pathogenic/Likely pathogenic	1	5	106	26
MUT:MSH6:Glu1193Val	PROT:P52701	MSH6	E	1193	V	E1193V	Likely pathogenic	1	1	106	26
MUT:MSH6:Glu122Lys	PROT:P52701	MSH6	E	122	K	E122K	Benign/Likely benign	0	3	106	15
MUT:MSH6:Glu171Gln	PROT:P52701	MSH6	E	171	Q	E171Q	Likely benign	0	1	106	2
MUT:MSH6:Glu181Ala	PROT:P52701	MSH6	E	181	A	E181A	Likely benign	0	1	106	12
MUT:MSH6:Glu192Ala	PROT:P52701	MSH6	E	192	A	E192A	Likely benign	0	1	106	8
MUT:MSH6:Glu220Asp	PROT:P52701	MSH6	E	220	D	E220D	Likely benign	0	6	106	1
MUT:MSH6:Glu52Ala	PROT:P52701	MSH6	E	52	A	E52A	Likely benign	0	1	106	1
MUT:MSH6:Glu760Asp	PROT:P52701	MSH6	E	760	D	E760D	Likely benign	0	1	106	7
MUT:MSH6:Glu810Asp	PROT:P52701	MSH6	E	810	D	E810D	Likely benign	0	1	106	3
MUT:MSH6:Gly1139Val	PROT:P52701	MSH6	G	1139	V	G1139V	Likely pathogenic	1	3	106	1
MUT:MSH6:Gly1157Arg	PROT:P52701	MSH6	G	1157	R	G1157R	Likely pathogenic	1	1	106	17
MUT:MSH6:Gly1157Asp	PROT:P52701	MSH6	G	1157	D	G1157D	Pathogenic/Likely pathogenic	1	4	106	17
MUT:MSH6:Gly1157Cys	PROT:P52701	MSH6	G	1157	C	G1157C	Pathogenic/Likely pathogenic	1	5	106	17
MUT:MSH6:Gly1157Ser	PROT:P52701	MSH6	G	1157	S	G1157S	Likely pathogenic	1	5	106	17
MUT:MSH6:Gly153Ser	PROT:P52701	MSH6	G	153	S	G153S	Pathogenic/Likely pathogenic	1	4	106	4
MUT:MSH6:Gly237Arg	PROT:P52701	MSH6	G	237	R	G237R	Likely benign	0	2	106	10
MUT:MSH6:Gly39Glu	PROT:P52701	MSH6	G	39	E	G39E	Benign	0	7	106	2
MUT:MSH6:Gly467Asp	PROT:P52701	MSH6	G	467	D	G467D	Likely benign	0	2	106	9
MUT:MSH6:Gly46Glu	PROT:P52701	MSH6	G	46	E	G46E	Likely benign	0	1	106	3
MUT:MSH6:Gly54Ala	PROT:P52701	MSH6	G	54	A	G54A	Likely benign	0	5	106	3
MUT:MSH6:Gly686Asp	PROT:P52701	MSH6	G	686	D	G686D	Likely pathogenic	1	5	106	7
MUT:MSH6:Gly770Arg	PROT:P52701	MSH6	G	770	R	G770R	Likely pathogenic	1	1	106	1
MUT:MSH6:Gly770Cys	PROT:P52701	MSH6	G	770	C	G770C	Likely pathogenic	1	1	106	1
MUT:MSH6:His164Pro	PROT:P52701	MSH6	H	164	P	H164P	Benign/Likely benign	0	5	106	3
MUT:MSH6:His367Arg	PROT:P52701	MSH6	H	367	R	H367R	Pathogenic	1	4	106	7
MUT:MSH6:His458Asn	PROT:P52701	MSH6	H	458	N	H458N	Likely pathogenic	1	1	106	18
MUT:MSH6:Ile1054Phe	PROT:P52701	MSH6	I	1054	F	I1054F	Likely benign	0	7	106	24
MUT:MSH6:Ile188Val	PROT:P52701	MSH6	I	188	V	I188V	Likely benign	0	1	106	12
MUT:MSH6:Ile745Asn	PROT:P52701	MSH6	I	745	N	I745N	Likely pathogenic	1	1	106	17
MUT:MSH6:Ile891Val	PROT:P52701	MSH6	I	891	V	I891V	Likely benign	0	1	106	3
MUT:MSH6:Ile967Lys	PROT:P52701	MSH6	I	967	K	I967K	Likely pathogenic	1	1	106	10
MUT:MSH6:Leu1063Arg	PROT:P52701	MSH6	L	1063	R	L1063R	Pathogenic	1	5	106	22
MUT:MSH6:Leu1211Arg	PROT:P52701	MSH6	L	1211	R	L1211R	Likely pathogenic	1	1	106	8
MUT:MSH6:Leu1211Phe	PROT:P52701	MSH6	L	1211	F	L1211F	Likely pathogenic	1	1	106	8
MUT:MSH6:Leu1211Pro	PROT:P52701	MSH6	L	1211	P	L1211P	Pathogenic	1	5	106	8
MUT:MSH6:Leu370Ser	PROT:P52701	MSH6	L	370	S	L370S	Pathogenic/Likely pathogenic	1	6	106	4
MUT:MSH6:Leu396Val	PROT:P52701	MSH6	L	396	V	L396V	Benign	0	10	106	22
MUT:MSH6:Leu435Pro	PROT:P52701	MSH6	L	435	P	L435P	Pathogenic/Likely pathogenic	1	4	106	41
MUT:MSH6:Leu449Pro	PROT:P52701	MSH6	L	449	P	L449P	Pathogenic	1	7	106	27
MUT:MSH6:Leu585Pro	PROT:P52701	MSH6	L	585	P	L585P	Pathogenic/Likely pathogenic	1	6	106	13
MUT:MSH6:Leu778Pro	PROT:P52701	MSH6	L	778	P	L778P	Likely pathogenic	1	1	106	7
MUT:MSH6:Lys1042Asn	PROT:P52701	MSH6	K	1042	N	K1042N	Likely benign	0	1	106	12
MUT:MSH6:Lys125Arg	PROT:P52701	MSH6	K	125	R	K125R	Likely benign	0	1	106	12
MUT:MSH6:Lys479Arg	PROT:P52701	MSH6	K	479	R	K479R	Likely benign	0	1	106	0
MUT:MSH6:Lys853Asn	PROT:P52701	MSH6	K	853	N	K853N	Pathogenic/Likely pathogenic	1	2	106	1
MUT:MSH6:Met1144Arg	PROT:P52701	MSH6	M	1144	R	M1144R	Likely pathogenic	1	3	106	4
MUT:MSH6:Met1Ile	PROT:P52701	MSH6	M	1	I	M1I	Likely pathogenic	1	3	106	7
MUT:MSH6:Met1Leu	PROT:P52701	MSH6	M	1	L	M1L	Pathogenic	1	1	106	7
MUT:MSH6:Met1Thr	PROT:P52701	MSH6	M	1	T	M1T	Pathogenic	1	1	106	7
MUT:MSH6:Met1Val	PROT:P52701	MSH6	M	1	V	M1V	Pathogenic	1	3	106	7
MUT:MSH6:Phe340Ser	PROT:P52701	MSH6	F	340	S	F340S	Likely benign	0	4	106	6
MUT:MSH6:Phe432Ser	PROT:P52701	MSH6	F	432	S	F432S	Pathogenic/Likely pathogenic	1	5	106	44
MUT:MSH6:Phe432Tyr	PROT:P52701	MSH6	F	432	Y	F432Y	Likely pathogenic	1	1	106	44
MUT:MSH6:Phe706Ser	PROT:P52701	MSH6	F	706	S	F706S	Likely pathogenic	1	4	106	13
MUT:MSH6:Pro1073Ser	PROT:P52701	MSH6	P	1073	S	P1073S	Likely benign	0	7	106	12
MUT:MSH6:Pro389Ser	PROT:P52701	MSH6	P	389	S	P389S	Likely benign	0	1	106	15
MUT:MSH6:Pro781Leu	PROT:P52701	MSH6	P	781	L	P781L	Pathogenic/Likely pathogenic	1	3	106	10
MUT:MSH6:Pro781Ser	PROT:P52701	MSH6	P	781	S	P781S	Pathogenic/Likely pathogenic	1	2	106	10
MUT:MSH6:Ser1329Leu	PROT:P52701	MSH6	S	1329	L	S1329L	Likely benign	0	5	106	4
MUT:MSH6:Ser144Ile	PROT:P52701	MSH6	S	144	I	S144I	Benign	0	8	106	0
MUT:MSH6:Ser24Pro	PROT:P52701	MSH6	S	24	P	S24P	Likely benign	0	1	106	2
MUT:MSH6:Ser341Ala	PROT:P52701	MSH6	S	341	A	S341A	Likely benign	0	1	106	7
MUT:MSH6:Ser359Thr	PROT:P52701	MSH6	S	359	T	S359T	Likely benign	0	1	106	11
MUT:MSH6:Ser418Pro	PROT:P52701	MSH6	S	418	P	S418P	Likely pathogenic	1	1	106	44
MUT:MSH6:Ser503Cys	PROT:P52701	MSH6	S	503	C	S503C	Likely benign	0	7	106	0
MUT:MSH6:Ser541Arg	PROT:P52701	MSH6	S	541	R	S541R	Likely pathogenic	1	6	106	2
MUT:MSH6:Ser611Gly	PROT:P52701	MSH6	S	611	G	S611G	Likely benign	0	1	106	1
MUT:MSH6:Ser616Pro	PROT:P52701	MSH6	S	616	P	S616P	Likely benign	0	1	106	6
MUT:MSH6:Ser648Asn	PROT:P52701	MSH6	S	648	N	S648N	Likely benign	0	1	106	2
MUT:MSH6:Ser65Leu	PROT:P52701	MSH6	S	65	L	S65L	Likely benign	0	4	106	0
MUT:MSH6:Thr1225Ser	PROT:P52701	MSH6	T	1225	S	T1225S	Likely pathogenic	1	1	106	4
MUT:MSH6:Thr213Ala	PROT:P52701	MSH6	T	213	A	T213A	Likely benign	0	1	106	0
MUT:MSH6:Thr319Ala	PROT:P52701	MSH6	T	319	A	T319A	Likely benign	0	1	106	5
MUT:MSH6:Thr323Ile	PROT:P52701	MSH6	T	323	I	T323I	Likely benign	0	3	106	1
MUT:MSH6:Thr363Ile	PROT:P52701	MSH6	T	363	I	T363I	Likely benign	0	1	106	11
MUT:MSH6:Thr767Ile	PROT:P52701	MSH6	T	767	I	T767I	Pathogenic	1	7	106	0
MUT:MSH6:Thr767Pro	PROT:P52701	MSH6	T	767	P	T767P	Likely pathogenic	1	1	106	0
MUT:MSH6:Thr999Ser	PROT:P52701	MSH6	T	999	S	T999S	Likely benign	0	2	106	2
MUT:MSH6:Trp413Arg	PROT:P52701	MSH6	W	413	R	W413R	Likely pathogenic	1	2	106	39
MUT:MSH6:Trp413Cys	PROT:P52701	MSH6	W	413	C	W413C	Pathogenic/Likely pathogenic	1	3	106	39
MUT:MSH6:Trp413Gly	PROT:P52701	MSH6	W	413	G	W413G	Likely pathogenic	1	1	106	39
MUT:MSH6:Trp413Leu	PROT:P52701	MSH6	W	413	L	W413L	Likely pathogenic	1	1	106	39
MUT:MSH6:Trp413Ser	PROT:P52701	MSH6	W	413	S	W413S	Likely pathogenic	1	2	106	39
MUT:MSH6:Tyr1128Phe	PROT:P52701	MSH6	Y	1128	F	Y1128F	Likely benign	0	2	106	12
MUT:MSH6:Tyr214Ser	PROT:P52701	MSH6	Y	214	S	Y214S	Likely benign	0	1	106	0
MUT:MSH6:Tyr469Phe	PROT:P52701	MSH6	Y	469	F	Y469F	Likely benign	0	1	106	7
MUT:MSH6:Tyr556Phe	PROT:P52701	MSH6	Y	556	F	Y556F	Likely benign	0	1	106	13
MUT:MSH6:Tyr8His	PROT:P52701	MSH6	Y	8	H	Y8H	Likely benign	0	1	106	0
MUT:MSH6:Tyr969Cys	PROT:P52701	MSH6	Y	969	C	Y969C	Likely pathogenic	1	7	106	12
MUT:MSH6:Tyr969His	PROT:P52701	MSH6	Y	969	H	Y969H	Likely pathogenic	1	2	106	12
MUT:MSH6:Val215Ala	PROT:P52701	MSH6	V	215	A	V215A	Likely benign	0	1	106	1
MUT:MSH6:Val398Glu	PROT:P52701	MSH6	V	398	E	V398E	Pathogenic	1	1	106	24
MUT:MSH6:Val480Glu	PROT:P52701	MSH6	V	480	E	V480E	Pathogenic	1	1	106	1
MUT:MSH6:Val509Ala	PROT:P52701	MSH6	V	509	A	V509A	Likely benign	0	8	106	5
MUT:MSH6:Val653Ala	PROT:P52701	MSH6	V	653	A	V653A	Likely benign	0	1	106	7
MUT:MSH6:Val800Leu	PROT:P52701	MSH6	V	800	L	V800L	Likely benign	0	9	106	13
MUT:MSH6:Val80Ile	PROT:P52701	MSH6	V	80	I	V80I	Pathogenic	1	1	106	1
MUT:MSH6:Val828Asp	PROT:P52701	MSH6	V	828	D	V828D	Likely benign	0	1	106	2
MUT:MSH6:Val878Ala	PROT:P52701	MSH6	V	878	A	V878A	Benign	0	9	106	5
MUT:MSH6:Val907Ala	PROT:P52701	MSH6	V	907	A	V907A	Benign/Likely benign	0	2	106	11
MUT:MSMO1:Gly246Arg	PROT:Q15800	MSMO1	G	246	R	G246R	Pathogenic	1	1	5	28
MUT:MSMO1:His173Gln	PROT:Q15800	MSMO1	H	173	Q	H173Q	Pathogenic	1	1	5	86
MUT:MSMO1:Pro126Ala	PROT:Q15800	MSMO1	P	126	A	P126A	Benign	0	1	5	39
MUT:MSMO1:Tyr244Cys	PROT:Q15800	MSMO1	Y	244	C	Y244C	Likely pathogenic	1	1	5	30
MUT:MSMO1:Val204Met	PROT:Q15800	MSMO1	V	204	M	V204M	Likely benign	0	1	5	70
MUT:MSRB3:Cys82Gly	PROT:Q8IXL7	MSRB3	C	82	G	C82G	Pathogenic	1	2	2	89
MUT:MSRB3:Gly136Arg	PROT:Q8IXL7	MSRB3	G	136	R	G136R	Likely pathogenic	1	1	2	35
MUT:MSRB3:Gly98Cys	PROT:Q8IXL7	MSRB3	G	98	C	G98C	Likely pathogenic	1	1	2	73
MUT:MSRB3:Thr167Ala	PROT:Q8IXL7	MSRB3	T	167	A	T167A	Likely benign	0	1	2	4
MUT:MTA3:Cys212Tyr	PROT:Q9BTC8	MTA3	C	212	Y	C212Y	Likely pathogenic	1	1	8	20
MUT:MTAP:Ala218Val	PROT:Q13126	MTAP	A	218	V	A218V	Benign	0	3	5	30
MUT:MTAP:Arg187His	PROT:Q13126	MTAP	R	187	H	R187H	Likely benign	0	1	5	1
MUT:MTAP:Ile46Leu	PROT:Q13126	MTAP	I	46	L	I46L	Benign/Likely benign	0	2	5	3
MUT:MTAP:Ser334Gly	PROT:Q13126	MTAP	S	334	G	S334G	Likely benign	0	1	5	146
MUT:MTAP:Trp189Leu	PROT:Q13126	MTAP	W	189	L	W189L	Benign	0	1	5	1
MUT:MTAP:Val56Ile	PROT:Q13126	MTAP	V	56	I	V56I	Benign	0	1	5	7
MUT:MTFMT:Ala238Val	PROT:Q96DP5	MTFMT	A	238	V	A238V	Likely benign	0	1	2	136
MUT:MTFMT:Arg266Cys	PROT:Q96DP5	MTFMT	R	266	C	R266C	Benign	0	1	2	108
MUT:MTFMT:Arg6Gly	PROT:Q96DP5	MTFMT	R	6	G	R6G	Benign/Likely benign	0	1	2	84
MUT:MTFMT:Arg6Trp	PROT:Q96DP5	MTFMT	R	6	W	R6W	Benign/Likely benign	0	1	2	84
MUT:MTFMT:Leu223Met	PROT:Q96DP5	MTFMT	L	223	M	L223M	Benign/Likely benign	0	1	2	133
MUT:MTFMT:Leu306Val	PROT:Q96DP5	MTFMT	L	306	V	L306V	Likely benign	0	1	2	68
MUT:MTFMT:Phe58Ile	PROT:Q96DP5	MTFMT	F	58	I	F58I	Benign	0	1	2	32
MUT:MTFMT:Pro11Leu	PROT:Q96DP5	MTFMT	P	11	L	P11L	Likely benign	0	1	2	79
MUT:MTFMT:Pro151Leu	PROT:Q96DP5	MTFMT	P	151	L	P151L	Pathogenic	1	1	2	61
MUT:MTFMT:Ser125Leu	PROT:Q96DP5	MTFMT	S	125	L	S125L	Pathogenic/Likely pathogenic	1	1	2	35
MUT:MTFMT:Ser209Leu	PROT:Q96DP5	MTFMT	S	209	L	S209L	Pathogenic	1	7	2	119
MUT:MTFMT:Ser293Asn	PROT:Q96DP5	MTFMT	S	293	N	S293N	Pathogenic	1	1	2	81
MUT:MTFMT:Val159Ala	PROT:Q96DP5	MTFMT	V	159	A	V159A	Benign	0	1	2	69
MUT:MTHFD1:Ala18Val	PROT:P11586	MTHFD1	A	18	V	A18V	Likely benign	0	12	46	3
MUT:MTHFD1:Arg173Cys	PROT:P11586	MTHFD1	R	173	C	R173C	Pathogenic/Likely pathogenic	1	2	46	35
MUT:MTHFD1:Arg653Gln	PROT:P11586	MTHFD1	R	653	Q	R653Q	Benign/Likely benign	0	2	46	31
MUT:MTHFD1:Arg772His	PROT:P11586	MTHFD1	R	772	H	R772H	Benign	0	1	46	1
MUT:MTHFD1:Gln803Arg	PROT:P11586	MTHFD1	Q	803	R	Q803R	Likely benign	0	1	46	10
MUT:MTHFD1:Gly276Arg	PROT:P11586	MTHFD1	G	276	R	G276R	Pathogenic	1	1	46	3
MUT:MTHFD1:Leu51Pro	PROT:P11586	MTHFD1	L	51	P	L51P	Likely pathogenic	1	1	46	1
MUT:MTHFD1:Lys134Arg	PROT:P11586	MTHFD1	K	134	R	K134R	Benign	0	1	46	74
MUT:MTHFD1:Ser49Phe	PROT:P11586	MTHFD1	S	49	F	S49F	Pathogenic/Likely pathogenic	1	2	46	3
MUT:MTHFD1:Thr269Ile	PROT:P11586	MTHFD1	T	269	I	T269I	Likely pathogenic	1	1	46	0
MUT:MTHFS:Ala5Val	PROT:P49914	MTHFS	A	5	V	A5V	Benign	0	1	10	5
MUT:MTHFS:Leu36Pro	PROT:P49914	MTHFS	L	36	P	L36P	Pathogenic	1	1	10	3
MUT:MTMR14:Asp173Glu	PROT:Q8NCE2	MTMR14	D	173	E	D173E	Likely benign	0	1	12	21
MUT:MTMR14:Thr356Met	PROT:Q8NCE2	MTMR14	T	356	M	T356M	Benign/Likely benign	0	1	12	106
MUT:MTMR2:Ala100Thr	PROT:Q13614	MTMR2	A	100	T	A100T	Benign/Likely benign	0	1	15	31
MUT:MTMR2:Ala602Gly	PROT:Q13614	MTMR2	A	602	G	A602G	Benign/Likely benign	0	3	15	4
MUT:MTMR2:Arg586Gln	PROT:Q13614	MTMR2	R	586	Q	R586Q	Likely benign	0	1	15	12
MUT:MTMR2:Asn545Ser	PROT:Q13614	MTMR2	N	545	S	N545S	Benign/Likely benign	0	2	15	53
MUT:MTMR2:Cys155Arg	PROT:Q13614	MTMR2	C	155	R	C155R	Likely pathogenic	1	1	15	1
MUT:MTMR2:Glu502Gln	PROT:Q13614	MTMR2	E	502	Q	E502Q	Benign	0	3	15	96
MUT:MTMR2:Leu396Pro	PROT:Q13614	MTMR2	L	396	P	L396P	Likely pathogenic	1	1	15	65
MUT:MTMR2:Lys3Thr	PROT:Q13614	MTMR2	K	3	T	K3T	Benign	0	3	15	3
MUT:MTMR2:Thr108Met	PROT:Q13614	MTMR2	T	108	M	T108M	Likely pathogenic	1	1	15	29
MUT:MTMR2:Val44Ile	PROT:Q13614	MTMR2	V	44	I	V44I	Benign/Likely benign	0	2	15	5
MUT:MTMR7:Ala346Thr	PROT:Q9Y216	MTMR7	A	346	T	A346T	Likely benign	0	1	4	102
MUT:MTMR7:Met522Thr	PROT:Q9Y216	MTMR7	M	522	T	M522T	Likely benign	0	1	4	73
MUT:MTMR7:Ser583Arg	PROT:Q9Y216	MTMR7	S	583	R	S583R	Likely benign	0	1	4	12
MUT:MTMR8:Ala44Thr	PROT:Q96EF0	MTMR8	A	44	T	A44T	Likely benign	0	1	4	84
MUT:MTMR8:Arg78Trp	PROT:Q96EF0	MTMR8	R	78	W	R78W	Likely benign	0	1	4	50
MUT:MTMR8:Asn669Lys	PROT:Q96EF0	MTMR8	N	669	K	N669K	Benign	0	1	4	412
MUT:MTMR8:Ile615Thr	PROT:Q96EF0	MTMR8	I	615	T	I615T	Benign	0	1	4	358
MUT:MTMR8:Leu670Met	PROT:Q96EF0	MTMR8	L	670	M	L670M	Benign	0	1	4	413
MUT:MTMR8:Pro62His	PROT:Q96EF0	MTMR8	P	62	H	P62H	Likely benign	0	1	4	66
MUT:MTPAP:Ala535Val	PROT:Q9NVV4	MTPAP	A	535	V	A535V	Likely benign	0	1	10	13
MUT:MTPAP:Arg162Cys	PROT:Q9NVV4	MTPAP	R	162	C	R162C	Benign	0	1	10	4
MUT:MTPAP:Arg503Gln	PROT:Q9NVV4	MTPAP	R	503	Q	R503Q	Likely benign	0	1	10	6
MUT:MTPAP:Asn478Asp	PROT:Q9NVV4	MTPAP	N	478	D	N478D	Pathogenic	1	1	10	10
MUT:MTPAP:Ile578Val	PROT:Q9NVV4	MTPAP	I	578	V	I578V	Likely benign	0	1	10	16
MUT:MTPAP:Lys488Asn	PROT:Q9NVV4	MTPAP	K	488	N	K488N	Likely pathogenic	1	1	10	9
MUT:MTPAP:Ser546Asn	PROT:Q9NVV4	MTPAP	S	546	N	S546N	Benign/Likely benign	0	1	10	2
MUT:MTPAP:Val163Ile	PROT:Q9NVV4	MTPAP	V	163	I	V163I	Likely benign	0	1	10	3
MUT:MTRFR:Arg15Gln	PROT:Q9H3J6	MTRFR	R	15	Q	R15Q	Benign	0	2	1	79
MUT:MTUS1:His575Arg	PROT:Q9ULD2	MTUS1	H	575	R	H575R	Benign	0	7	32	16
MUT:MUC16:Ala10587Val	PROT:Q8WXI7	MUC16	A	10587	V	A10587V	Benign	0	1	42	17
MUT:MUC16:Ala10669Val	PROT:Q8WXI7	MUC16	A	10669	V	A10669V	Benign	0	1	42	82
MUT:MUC16:Ala12884Val	PROT:Q8WXI7	MUC16	A	12884	V	A12884V	Likely benign	0	1	42	89
MUT:MUC16:Ala12987Thr	PROT:Q8WXI7	MUC16	A	12987	T	A12987T	Likely benign	0	1	42	192
MUT:MUC16:Ala14302Val	PROT:Q8WXI7	MUC16	A	14302	V	A14302V	Benign	0	2	42	66
MUT:MUC16:Ala1510Pro	PROT:Q8WXI7	MUC16	A	1510	P	A1510P	Likely benign	0	1	42	551
MUT:MUC16:Ala1959Thr	PROT:Q8WXI7	MUC16	A	1959	T	A1959T	Benign	0	1	42	1000
MUT:MUC16:Ala2568Thr	PROT:Q8WXI7	MUC16	A	2568	T	A2568T	Benign	0	1	42	485
MUT:MUC16:Ala2588Pro	PROT:Q8WXI7	MUC16	A	2588	P	A2588P	Likely benign	0	1	42	465
MUT:MUC16:Ala2787Thr	PROT:Q8WXI7	MUC16	A	2787	T	A2787T	Benign	0	1	42	266
MUT:MUC16:Ala2945Thr	PROT:Q8WXI7	MUC16	A	2945	T	A2945T	Likely benign	0	1	42	108
MUT:MUC16:Ala3141Ser	PROT:Q8WXI7	MUC16	A	3141	S	A3141S	Benign	0	1	42	87
MUT:MUC16:Ala3141Thr	PROT:Q8WXI7	MUC16	A	3141	T	A3141T	Benign	0	1	42	87
MUT:MUC16:Ala755Thr	PROT:Q8WXI7	MUC16	A	755	T	A755T	Benign	0	1	42	200
MUT:MUC16:Ala8767Val	PROT:Q8WXI7	MUC16	A	8767	V	A8767V	Benign	0	1	42	111
MUT:MUC16:Arg10511Lys	PROT:Q8WXI7	MUC16	R	10511	K	R10511K	Likely benign	0	1	42	59
MUT:MUC16:Arg1055Gly	PROT:Q8WXI7	MUC16	R	1055	G	R1055G	Benign	0	1	42	96
MUT:MUC16:Arg10614His	PROT:Q8WXI7	MUC16	R	10614	H	R10614H	Benign	0	1	42	44
MUT:MUC16:Arg12256Gln	PROT:Q8WXI7	MUC16	R	12256	Q	R12256Q	Benign	0	1	42	4
MUT:MUC16:Arg13091Cys	PROT:Q8WXI7	MUC16	R	13091	C	R13091C	Benign	0	1	42	296
MUT:MUC16:Arg13091His	PROT:Q8WXI7	MUC16	R	13091	H	R13091H	Benign	0	1	42	296
MUT:MUC16:Arg13182Trp	PROT:Q8WXI7	MUC16	R	13182	W	R13182W	Likely benign	0	1	42	363
MUT:MUC16:Arg13193Gln	PROT:Q8WXI7	MUC16	R	13193	Q	R13193Q	Likely benign	0	3	42	352
MUT:MUC16:Arg14183His	PROT:Q8WXI7	MUC16	R	14183	H	R14183H	Benign	0	1	42	53
MUT:MUC16:Arg14184His	PROT:Q8WXI7	MUC16	R	14184	H	R14184H	Benign	0	1	42	52
MUT:MUC16:Arg14240His	PROT:Q8WXI7	MUC16	R	14240	H	R14240H	Benign	0	1	42	4
MUT:MUC16:Arg14252Gln	PROT:Q8WXI7	MUC16	R	14252	Q	R14252Q	Benign	0	1	42	16
MUT:MUC16:Arg14778Cys	PROT:Q8WXI7	MUC16	R	14778	C	R14778C	Likely benign	0	1	42	542
MUT:MUC16:Arg14833Gln	PROT:Q8WXI7	MUC16	R	14833	Q	R14833Q	Benign	0	1	42	597
MUT:MUC16:Arg15070Lys	PROT:Q8WXI7	MUC16	R	15070	K	R15070K	Likely benign	0	1	42	834
MUT:MUC16:Arg3457Gln	PROT:Q8WXI7	MUC16	R	3457	Q	R3457Q	Benign	0	1	42	55
MUT:MUC16:Arg3539Met	PROT:Q8WXI7	MUC16	R	3539	M	R3539M	Benign	0	1	42	137
MUT:MUC16:Arg3613His	PROT:Q8WXI7	MUC16	R	3613	H	R3613H	Benign	0	1	42	211
MUT:MUC16:Arg3674Cys	PROT:Q8WXI7	MUC16	R	3674	C	R3674C	Benign	0	1	42	272
MUT:MUC16:Arg384Lys	PROT:Q8WXI7	MUC16	R	384	K	R384K	Benign	0	1	42	30
MUT:MUC16:Arg961Thr	PROT:Q8WXI7	MUC16	R	961	T	R961T	Likely benign	0	1	42	2
MUT:MUC16:Asn14280Asp	PROT:Q8WXI7	MUC16	N	14280	D	N14280D	Likely benign	0	1	42	44
MUT:MUC16:Asp13052His	PROT:Q8WXI7	MUC16	D	13052	H	D13052H	Likely benign	0	1	42	257
MUT:MUC16:Asp14249Asn	PROT:Q8WXI7	MUC16	D	14249	N	D14249N	Benign	0	1	42	13
MUT:MUC16:Asp14546Glu	PROT:Q8WXI7	MUC16	D	14546	E	D14546E	Benign	0	1	42	310
MUT:MUC16:Asp1515Asn	PROT:Q8WXI7	MUC16	D	1515	N	D1515N	Benign	0	1	42	556
MUT:MUC16:Asp1996Asn	PROT:Q8WXI7	MUC16	D	1996	N	D1996N	Benign	0	1	42	1037
MUT:MUC16:Asp2396Glu	PROT:Q8WXI7	MUC16	D	2396	E	D2396E	Benign	0	1	42	657
MUT:MUC16:Cys12780Arg	PROT:Q8WXI7	MUC16	C	12780	R	C12780R	Benign	0	1	42	1
MUT:MUC16:Cys12780Tyr	PROT:Q8WXI7	MUC16	C	12780	Y	C12780Y	Benign	0	1	42	1
MUT:MUC16:Gln13152Lys	PROT:Q8WXI7	MUC16	Q	13152	K	Q13152K	Benign	0	1	42	357
MUT:MUC16:Gln13179His	PROT:Q8WXI7	MUC16	Q	13179	H	Q13179H	Likely benign	0	1	42	366
MUT:MUC16:Gln14799Lys	PROT:Q8WXI7	MUC16	Q	14799	K	Q14799K	Benign	0	1	42	563
MUT:MUC16:Gln2143Arg	PROT:Q8WXI7	MUC16	Q	2143	R	Q2143R	Likely benign	0	1	42	910
MUT:MUC16:Glu10193Gln	PROT:Q8WXI7	MUC16	E	10193	Q	E10193Q	Benign	0	2	42	377
MUT:MUC16:Glu12352Lys	PROT:Q8WXI7	MUC16	E	12352	K	E12352K	Benign	0	1	42	56
MUT:MUC16:Glu12393Lys	PROT:Q8WXI7	MUC16	E	12393	K	E12393K	Benign	0	1	42	91
MUT:MUC16:Glu12510Lys	PROT:Q8WXI7	MUC16	E	12510	K	E12510K	Benign	0	1	42	26
MUT:MUC16:Glu12541Gly	PROT:Q8WXI7	MUC16	E	12541	G	E12541G	Benign	0	1	42	57
MUT:MUC16:Glu13003Lys	PROT:Q8WXI7	MUC16	E	13003	K	E13003K	Benign	0	1	42	208
MUT:MUC16:Glu1801Gly	PROT:Q8WXI7	MUC16	E	1801	G	E1801G	Benign	0	3	42	842
MUT:MUC16:Glu200Lys	PROT:Q8WXI7	MUC16	E	200	K	E200K	Likely benign	0	1	42	154
MUT:MUC16:Glu4001Lys	PROT:Q8WXI7	MUC16	E	4001	K	E4001K	Benign	0	1	42	599
MUT:MUC16:Glu8621Lys	PROT:Q8WXI7	MUC16	E	8621	K	E8621K	Likely pathogenic	1	1	42	35
MUT:MUC16:Gly10148Glu	PROT:Q8WXI7	MUC16	G	10148	E	G10148E	Likely benign	0	1	42	422
MUT:MUC16:Gly11495Asp	PROT:Q8WXI7	MUC16	G	11495	D	G11495D	Benign	0	1	42	688
MUT:MUC16:Gly13057Glu	PROT:Q8WXI7	MUC16	G	13057	E	G13057E	Benign	0	1	42	262
MUT:MUC16:Gly13087Glu	PROT:Q8WXI7	MUC16	G	13087	E	G13087E	Benign	0	1	42	292
MUT:MUC16:Gly13110Ser	PROT:Q8WXI7	MUC16	G	13110	S	G13110S	Benign	0	1	42	315
MUT:MUC16:Gly13140Arg	PROT:Q8WXI7	MUC16	G	13140	R	G13140R	Likely pathogenic	1	1	42	345
MUT:MUC16:Gly13185Asp	PROT:Q8WXI7	MUC16	G	13185	D	G13185D	Likely benign	0	1	42	360
MUT:MUC16:Gly14998Arg	PROT:Q8WXI7	MUC16	G	14998	R	G14998R	Benign	0	1	42	762
MUT:MUC16:Gly1767Glu	PROT:Q8WXI7	MUC16	G	1767	E	G1767E	Likely benign	0	1	42	808
MUT:MUC16:Gly2485Asp	PROT:Q8WXI7	MUC16	G	2485	D	G2485D	Benign	0	1	42	568
MUT:MUC16:Gly3229Trp	PROT:Q8WXI7	MUC16	G	3229	W	G3229W	Likely benign	0	1	42	167
MUT:MUC16:Gly3866Glu	PROT:Q8WXI7	MUC16	G	3866	E	G3866E	Benign	0	1	42	464
MUT:MUC16:Gly3866Trp	PROT:Q8WXI7	MUC16	G	3866	W	G3866W	Likely benign	0	3	42	464
MUT:MUC16:His10744Asn	PROT:Q8WXI7	MUC16	H	10744	N	H10744N	Benign	0	1	42	7
MUT:MUC16:His13092Arg	PROT:Q8WXI7	MUC16	H	13092	R	H13092R	Benign	0	1	42	297
MUT:MUC16:His13147Tyr	PROT:Q8WXI7	MUC16	H	13147	Y	H13147Y	Benign	0	1	42	352
MUT:MUC16:His1393Tyr	PROT:Q8WXI7	MUC16	H	1393	Y	H1393Y	Benign	0	1	42	434
MUT:MUC16:His14275Asp	PROT:Q8WXI7	MUC16	H	14275	D	H14275D	Benign	0	1	42	39
MUT:MUC16:His1889Arg	PROT:Q8WXI7	MUC16	H	1889	R	H1889R	Benign	0	1	42	930
MUT:MUC16:His518Tyr	PROT:Q8WXI7	MUC16	H	518	Y	H518Y	Benign	0	1	42	164
MUT:MUC16:Ile13128Thr	PROT:Q8WXI7	MUC16	I	13128	T	I13128T	Benign	0	1	42	333
MUT:MUC16:Ile13144Val	PROT:Q8WXI7	MUC16	I	13144	V	I13144V	Benign	0	1	42	349
MUT:MUC16:Ile13194Thr	PROT:Q8WXI7	MUC16	I	13194	T	I13194T	Likely benign	0	1	42	351
MUT:MUC16:Ile2277Thr	PROT:Q8WXI7	MUC16	I	2277	T	I2277T	Likely benign	0	1	42	776
MUT:MUC16:Ile2359Val	PROT:Q8WXI7	MUC16	I	2359	V	I2359V	Benign/Likely benign	0	2	42	694
MUT:MUC16:Ile4074Phe	PROT:Q8WXI7	MUC16	I	4074	F	I4074F	Benign	0	1	42	672
MUT:MUC16:Leu119Ser	PROT:Q8WXI7	MUC16	L	119	S	L119S	Benign	0	1	42	114
MUT:MUC16:Leu12607Pro	PROT:Q8WXI7	MUC16	L	12607	P	L12607P	Benign	0	1	42	4
MUT:MUC16:Leu12653Pro	PROT:Q8WXI7	MUC16	L	12653	P	L12653P	Likely benign	0	1	42	29
MUT:MUC16:Leu13112Met	PROT:Q8WXI7	MUC16	L	13112	M	L13112M	Benign	0	1	42	317
MUT:MUC16:Leu13112Phe	PROT:Q8WXI7	MUC16	L	13112	F	L13112F	Benign	0	1	42	317
MUT:MUC16:Leu13149Pro	PROT:Q8WXI7	MUC16	L	13149	P	L13149P	Benign	0	1	42	354
MUT:MUC16:Leu14176Met	PROT:Q8WXI7	MUC16	L	14176	M	L14176M	Benign	0	1	42	60
MUT:MUC16:Leu14478Pro	PROT:Q8WXI7	MUC16	L	14478	P	L14478P	Benign	0	1	42	242
MUT:MUC16:Leu14481Phe	PROT:Q8WXI7	MUC16	L	14481	F	L14481F	Benign	0	1	42	245
MUT:MUC16:Leu14722Trp	PROT:Q8WXI7	MUC16	L	14722	W	L14722W	Benign	0	1	42	486
MUT:MUC16:Leu14844Phe	PROT:Q8WXI7	MUC16	L	14844	F	L14844F	Benign	0	1	42	608
MUT:MUC16:Leu15085Pro	PROT:Q8WXI7	MUC16	L	15085	P	L15085P	Benign	0	1	42	849
MUT:MUC16:Leu1598Ile	PROT:Q8WXI7	MUC16	L	1598	I	L1598I	Likely pathogenic	1	1	42	639
MUT:MUC16:Leu1873Phe	PROT:Q8WXI7	MUC16	L	1873	F	L1873F	Benign	0	1	42	914
MUT:MUC16:Lys1306Asn	PROT:Q8WXI7	MUC16	K	1306	N	K1306N	Benign	0	1	42	347
MUT:MUC16:Lys14256Glu	PROT:Q8WXI7	MUC16	K	14256	E	K14256E	Benign	0	1	42	20
MUT:MUC16:Lys3546Thr	PROT:Q8WXI7	MUC16	K	3546	T	K3546T	Benign	0	1	42	144
MUT:MUC16:Met12309Val	PROT:Q8WXI7	MUC16	M	12309	V	M12309V	Benign	0	1	42	13
MUT:MUC16:Met14314Thr	PROT:Q8WXI7	MUC16	M	14314	T	M14314T	Benign	0	1	42	78
MUT:MUC16:Met162Ile	PROT:Q8WXI7	MUC16	M	162	I	M162I	Likely benign	0	1	42	157
MUT:MUC16:Met2728Ile	PROT:Q8WXI7	MUC16	M	2728	I	M2728I	Benign	0	1	42	325
MUT:MUC16:Met2826Ile	PROT:Q8WXI7	MUC16	M	2826	I	M2826I	Benign	0	1	42	227
MUT:MUC16:Phe10209Leu	PROT:Q8WXI7	MUC16	F	10209	L	F10209L	Benign	0	1	42	361
MUT:MUC16:Phe12593Ser	PROT:Q8WXI7	MUC16	F	12593	S	F12593S	Benign	0	1	42	6
MUT:MUC16:Phe2705Ser	PROT:Q8WXI7	MUC16	F	2705	S	F2705S	Benign	0	1	42	348
MUT:MUC16:Pro10488Arg	PROT:Q8WXI7	MUC16	P	10488	R	P10488R	Benign	0	1	42	82
MUT:MUC16:Pro10648Ser	PROT:Q8WXI7	MUC16	P	10648	S	P10648S	Benign	0	1	42	78
MUT:MUC16:Pro10739Leu	PROT:Q8WXI7	MUC16	P	10739	L	P10739L	Likely pathogenic	1	1	42	12
MUT:MUC16:Pro1081Ser	PROT:Q8WXI7	MUC16	P	1081	S	P1081S	Benign	0	1	42	122
MUT:MUC16:Pro11952Thr	PROT:Q8WXI7	MUC16	P	11952	T	P11952T	Benign	0	1	42	308
MUT:MUC16:Pro12293Thr	PROT:Q8WXI7	MUC16	P	12293	T	P12293T	Benign	0	1	42	3
MUT:MUC16:Pro12937Leu	PROT:Q8WXI7	MUC16	P	12937	L	P12937L	Benign	0	1	42	142
MUT:MUC16:Pro13154Leu	PROT:Q8WXI7	MUC16	P	13154	L	P13154L	Likely benign	0	1	42	359
MUT:MUC16:Pro14756Leu	PROT:Q8WXI7	MUC16	P	14756	L	P14756L	Benign	0	1	42	520
MUT:MUC16:Pro14892Ala	PROT:Q8WXI7	MUC16	P	14892	A	P14892A	Benign	0	1	42	656
MUT:MUC16:Pro2207Leu	PROT:Q8WXI7	MUC16	P	2207	L	P2207L	Benign	0	1	42	846
MUT:MUC16:Pro2453Thr	PROT:Q8WXI7	MUC16	P	2453	T	P2453T	Benign	0	1	42	600
MUT:MUC16:Pro2921Ser	PROT:Q8WXI7	MUC16	P	2921	S	P2921S	Benign	0	1	42	132
MUT:MUC16:Pro3132Ser	PROT:Q8WXI7	MUC16	P	3132	S	P3132S	Likely benign	0	1	42	78
MUT:MUC16:Pro3329Thr	PROT:Q8WXI7	MUC16	P	3329	T	P3329T	Benign	0	1	42	67
MUT:MUC16:Pro3412Leu	PROT:Q8WXI7	MUC16	P	3412	L	P3412L	Benign	0	1	42	10
MUT:MUC16:Pro4182Leu	PROT:Q8WXI7	MUC16	P	4182	L	P4182L	Benign	0	1	42	780
MUT:MUC16:Pro8590Leu	PROT:Q8WXI7	MUC16	P	8590	L	P8590L	Likely benign	0	1	42	66
MUT:MUC16:Pro8829Leu	PROT:Q8WXI7	MUC16	P	8829	L	P8829L	Benign	0	1	42	173
MUT:MUC16:Ser10177Ala	PROT:Q8WXI7	MUC16	S	10177	A	S10177A	Likely benign	0	1	42	393
MUT:MUC16:Ser1072Thr	PROT:Q8WXI7	MUC16	S	1072	T	S1072T	Benign	0	1	42	113
MUT:MUC16:Ser11625Arg	PROT:Q8WXI7	MUC16	S	11625	R	S11625R	Benign	0	1	42	635
MUT:MUC16:Ser12506Tyr	PROT:Q8WXI7	MUC16	S	12506	Y	S12506Y	Benign	0	1	42	22
MUT:MUC16:Ser12576Thr	PROT:Q8WXI7	MUC16	S	12576	T	S12576T	Benign	0	1	42	23
MUT:MUC16:Ser12732Thr	PROT:Q8WXI7	MUC16	S	12732	T	S12732T	Likely pathogenic	1	1	42	11
MUT:MUC16:Ser13064Arg	PROT:Q8WXI7	MUC16	S	13064	R	S13064R	Benign	0	1	42	269
MUT:MUC16:Ser13132Pro	PROT:Q8WXI7	MUC16	S	13132	P	S13132P	Benign	0	1	42	337
MUT:MUC16:Ser13153Arg	PROT:Q8WXI7	MUC16	S	13153	R	S13153R	Benign	0	1	42	358
MUT:MUC16:Ser14621Leu	PROT:Q8WXI7	MUC16	S	14621	L	S14621L	Benign	0	1	42	385
MUT:MUC16:Ser14730Asn	PROT:Q8WXI7	MUC16	S	14730	N	S14730N	Benign	0	1	42	494
MUT:MUC16:Ser14759Arg	PROT:Q8WXI7	MUC16	S	14759	R	S14759R	Benign	0	1	42	523
MUT:MUC16:Ser15279Phe	PROT:Q8WXI7	MUC16	S	15279	F	S15279F	Benign	0	1	42	1043
MUT:MUC16:Ser1931Asn	PROT:Q8WXI7	MUC16	S	1931	N	S1931N	Likely benign	0	1	42	972
MUT:MUC16:Ser1993Pro	PROT:Q8WXI7	MUC16	S	1993	P	S1993P	Benign	0	1	42	1034
MUT:MUC16:Ser2098Pro	PROT:Q8WXI7	MUC16	S	2098	P	S2098P	Benign	0	1	42	955
MUT:MUC16:Ser2263Arg	PROT:Q8WXI7	MUC16	S	2263	R	S2263R	Benign	0	1	42	790
MUT:MUC16:Ser2503Leu	PROT:Q8WXI7	MUC16	S	2503	L	S2503L	Benign	0	1	42	550
MUT:MUC16:Ser2715Leu	PROT:Q8WXI7	MUC16	S	2715	L	S2715L	Benign	0	1	42	338
MUT:MUC16:Ser2816Ala	PROT:Q8WXI7	MUC16	S	2816	A	S2816A	Benign	0	1	42	237
MUT:MUC16:Ser3058Gly	PROT:Q8WXI7	MUC16	S	3058	G	S3058G	Likely benign	0	1	42	4
MUT:MUC16:Ser3230Thr	PROT:Q8WXI7	MUC16	S	3230	T	S3230T	Benign	0	1	42	166
MUT:MUC16:Ser3255Gly	PROT:Q8WXI7	MUC16	S	3255	G	S3255G	Benign	0	1	42	141
MUT:MUC16:Ser3377Leu	PROT:Q8WXI7	MUC16	S	3377	L	S3377L	Benign	0	1	42	19
MUT:MUC16:Ser3474Pro	PROT:Q8WXI7	MUC16	S	3474	P	S3474P	Benign	0	1	42	72
MUT:MUC16:Ser3686Phe	PROT:Q8WXI7	MUC16	S	3686	F	S3686F	Likely benign	0	1	42	284
MUT:MUC16:Ser4025Phe	PROT:Q8WXI7	MUC16	S	4025	F	S4025F	Benign	0	1	42	623
MUT:MUC16:Ser7809Phe	PROT:Q8WXI7	MUC16	S	7809	F	S7809F	Likely pathogenic	1	1	42	307
MUT:MUC16:Ser8913Cys	PROT:Q8WXI7	MUC16	S	8913	C	S8913C	Likely pathogenic	1	1	42	257
MUT:MUC16:Thr10195Ile	PROT:Q8WXI7	MUC16	T	10195	I	T10195I	Benign	0	1	42	375
MUT:MUC16:Thr10810Ile	PROT:Q8WXI7	MUC16	T	10810	I	T10810I	Benign	0	1	42	3
MUT:MUC16:Thr11284Ser	PROT:Q8WXI7	MUC16	T	11284	S	T11284S	Likely benign	0	1	42	477
MUT:MUC16:Thr11928Arg	PROT:Q8WXI7	MUC16	T	11928	R	T11928R	Benign	0	1	42	332
MUT:MUC16:Thr11977Ile	PROT:Q8WXI7	MUC16	T	11977	I	T11977I	Benign	0	1	42	283
MUT:MUC16:Thr1202Ile	PROT:Q8WXI7	MUC16	T	1202	I	T1202I	Benign	0	1	42	243
MUT:MUC16:Thr12202Met	PROT:Q8WXI7	MUC16	T	12202	M	T12202M	Benign	0	1	42	58
MUT:MUC16:Thr12319Ser	PROT:Q8WXI7	MUC16	T	12319	S	T12319S	Benign	0	1	42	23
MUT:MUC16:Thr12615Asn	PROT:Q8WXI7	MUC16	T	12615	N	T12615N	Benign	0	1	42	9
MUT:MUC16:Thr12731Pro	PROT:Q8WXI7	MUC16	T	12731	P	T12731P	Benign	0	1	42	10
MUT:MUC16:Thr13066Ile	PROT:Q8WXI7	MUC16	T	13066	I	T13066I	Benign	0	1	42	271
MUT:MUC16:Thr13067Ala	PROT:Q8WXI7	MUC16	T	13067	A	T13067A	Benign	0	1	42	272
MUT:MUC16:Thr13146Ile	PROT:Q8WXI7	MUC16	T	13146	I	T13146I	Benign	0	1	42	351
MUT:MUC16:Thr13146Pro	PROT:Q8WXI7	MUC16	T	13146	P	T13146P	Benign	0	1	42	351
MUT:MUC16:Thr14174Ile	PROT:Q8WXI7	MUC16	T	14174	I	T14174I	Benign	0	1	42	62
MUT:MUC16:Thr15095Ala	PROT:Q8WXI7	MUC16	T	15095	A	T15095A	Benign	0	1	42	859
MUT:MUC16:Thr1651Lys	PROT:Q8WXI7	MUC16	T	1651	K	T1651K	Likely benign	0	1	42	692
MUT:MUC16:Thr2174Ile	PROT:Q8WXI7	MUC16	T	2174	I	T2174I	Likely benign	0	1	42	879
MUT:MUC16:Thr2311Ala	PROT:Q8WXI7	MUC16	T	2311	A	T2311A	Benign	0	1	42	742
MUT:MUC16:Thr2546Ala	PROT:Q8WXI7	MUC16	T	2546	A	T2546A	Benign	0	1	42	507
MUT:MUC16:Thr2580Pro	PROT:Q8WXI7	MUC16	T	2580	P	T2580P	Benign	0	1	42	473
MUT:MUC16:Thr2664Met	PROT:Q8WXI7	MUC16	T	2664	M	T2664M	Benign	0	1	42	389
MUT:MUC16:Thr2873Asn	PROT:Q8WXI7	MUC16	T	2873	N	T2873N	Benign	0	1	42	180
MUT:MUC16:Thr2874Met	PROT:Q8WXI7	MUC16	T	2874	M	T2874M	Benign	0	1	42	179
MUT:MUC16:Thr2931Ile	PROT:Q8WXI7	MUC16	T	2931	I	T2931I	Benign	0	1	42	122
MUT:MUC16:Thr3160Asn	PROT:Q8WXI7	MUC16	T	3160	N	T3160N	Benign	0	1	42	106
MUT:MUC16:Thr3203Met	PROT:Q8WXI7	MUC16	T	3203	M	T3203M	Benign	0	1	42	149
MUT:MUC16:Thr3499Pro	PROT:Q8WXI7	MUC16	T	3499	P	T3499P	Benign	0	1	42	97
MUT:MUC16:Thr3763Met	PROT:Q8WXI7	MUC16	T	3763	M	T3763M	Benign	0	1	42	361
MUT:MUC16:Thr3828Ile	PROT:Q8WXI7	MUC16	T	3828	I	T3828I	Benign	0	1	42	426
MUT:MUC16:Thr4066Ala	PROT:Q8WXI7	MUC16	T	4066	A	T4066A	Likely benign	0	1	42	664
MUT:MUC16:Thr4092Ser	PROT:Q8WXI7	MUC16	T	4092	S	T4092S	Likely benign	0	1	42	690
MUT:MUC16:Thr4117Ser	PROT:Q8WXI7	MUC16	T	4117	S	T4117S	Benign	0	1	42	715
MUT:MUC16:Thr464Met	PROT:Q8WXI7	MUC16	T	464	M	T464M	Benign	0	1	42	110
MUT:MUC16:Thr585Ala	PROT:Q8WXI7	MUC16	T	585	A	T585A	Benign	0	1	42	231
MUT:MUC16:Thr657Ile	PROT:Q8WXI7	MUC16	T	657	I	T657I	Benign	0	1	42	298
MUT:MUC16:Tyr15176His	PROT:Q8WXI7	MUC16	Y	15176	H	Y15176H	Likely benign	0	1	42	940
MUT:MUC16:Tyr1938Asp	PROT:Q8WXI7	MUC16	Y	1938	D	Y1938D	Benign	0	1	42	979
MUT:MUC16:Val11082Met	PROT:Q8WXI7	MUC16	V	11082	M	V11082M	Likely pathogenic	1	1	42	275
MUT:MUC16:Val13141Met	PROT:Q8WXI7	MUC16	V	13141	M	V13141M	Benign	0	1	42	346
MUT:MUC16:Val13167Met	PROT:Q8WXI7	MUC16	V	13167	M	V13167M	Benign	0	1	42	372
MUT:MUC16:Val13218Ile	PROT:Q8WXI7	MUC16	V	13218	I	V13218I	Benign	0	1	42	327
MUT:MUC16:Val14236Ile	PROT:Q8WXI7	MUC16	V	14236	I	V14236I	Benign	0	1	42	0
MUT:MUC16:Val14477Met	PROT:Q8WXI7	MUC16	V	14477	M	V14477M	Benign	0	1	42	241
MUT:MUC16:Val15308Leu	PROT:Q8WXI7	MUC16	V	15308	L	V15308L	Benign	0	1	42	1072
MUT:MUC16:Val2328Leu	PROT:Q8WXI7	MUC16	V	2328	L	V2328L	Benign	0	1	42	725
MUT:MUC16:Val2512Ile	PROT:Q8WXI7	MUC16	V	2512	I	V2512I	Likely benign	0	1	42	541
MUT:MUC16:Val3323Ile	PROT:Q8WXI7	MUC16	V	3323	I	V3323I	Likely benign	0	1	42	73
MUT:MUC16:Val3570Ile	PROT:Q8WXI7	MUC16	V	3570	I	V3570I	Benign	0	1	42	168
MUT:MUC16:Val689Phe	PROT:Q8WXI7	MUC16	V	689	F	V689F	Benign	0	1	42	266
MUT:MUC1:Ala161Thr	PROT:P15941	MUC1	A	161	T	A161T	Likely benign	0	1	6	279
MUT:MUC1:Ala27Thr	PROT:P15941	MUC1	A	27	T	A27T	Likely benign	0	1	6	413
MUT:MUC1:Ala383Ser	PROT:P15941	MUC1	A	383	S	A383S	Likely benign	0	1	6	57
MUT:MUC1:Asn133Thr	PROT:P15941	MUC1	N	133	T	N133T	Likely benign	0	1	6	307
MUT:MUC1:Gly210Arg	PROT:P15941	MUC1	G	210	R	G210R	Likely benign	0	1	6	230
MUT:MUC1:Leu407Phe	PROT:P15941	MUC1	L	407	F	L407F	Likely benign	0	1	6	33
MUT:MUC1:Pro91Leu	PROT:P15941	MUC1	P	91	L	P91L	Likely benign	0	1	6	349
MUT:MUC1:Ser1032Thr	PROT:P15941	MUC1	S	1032	T	S1032T	Likely benign	0	5	6	579
MUT:MUC1:Val405Ile	PROT:P15941	MUC1	V	405	I	V405I	Likely benign	0	1	6	35
MUT:MUC5B:Ala5620Val	PROT:Q9HC84	MUC5B	A	5620	V	A5620V	Benign	0	1	3	5136
MUT:MUC5B:Asn2967Ser	PROT:Q9HC84	MUC5B	N	2967	S	N2967S	Likely benign	0	5	3	2483
MUT:MUC5B:Asp5554Asn	PROT:Q9HC84	MUC5B	D	5554	N	D5554N	Benign	0	1	3	5070
MUT:MUC5B:Asp682Gly	PROT:Q9HC84	MUC5B	D	682	G	D682G	Likely benign	0	1	3	198
MUT:MUC5B:Gln4179His	PROT:Q9HC84	MUC5B	Q	4179	H	Q4179H	Benign	0	1	3	3695
MUT:MUC5B:Pro1472Leu	PROT:Q9HC84	MUC5B	P	1472	L	P1472L	Benign	0	1	3	988
MUT:MUC5B:Pro4895Ser	PROT:Q9HC84	MUC5B	P	4895	S	P4895S	Benign	0	1	3	4411
MUT:MUC5B:Ser4897Leu	PROT:Q9HC84	MUC5B	S	4897	L	S4897L	Benign	0	1	3	4413
MUT:MUC5B:Ser681Gly	PROT:Q9HC84	MUC5B	S	681	G	S681G	Likely benign	0	1	3	197
MUT:MUC5B:Thr1309Met	PROT:Q9HC84	MUC5B	T	1309	M	T1309M	Likely benign	0	1	3	825
MUT:MUC5B:Thr507Met	PROT:Q9HC84	MUC5B	T	507	M	T507M	Likely benign	0	1	3	23
MUT:MUC5B:Val5436Met	PROT:Q9HC84	MUC5B	V	5436	M	V5436M	Benign	0	7	3	4952
MUT:MUSK:Ala727Val	PROT:O15146	MUSK	A	727	V	A727V	Likely pathogenic	1	1	5	46
MUT:MUSK:Ala787Val	PROT:O15146	MUSK	A	787	V	A787V	Likely pathogenic	1	1	5	26
MUT:MUSK:Arg858His	PROT:O15146	MUSK	R	858	H	R858H	Benign/Likely benign	0	2	5	45
MUT:MUSK:Asn664Ser	PROT:O15146	MUSK	N	664	S	N664S	Benign/Likely benign	0	1	5	17
MUT:MUSK:Asp38Glu	PROT:O15146	MUSK	D	38	E	D38E	Likely pathogenic	1	1	5	516
MUT:MUSK:Asp38Tyr	PROT:O15146	MUSK	D	38	Y	D38Y	Likely pathogenic	1	1	5	516
MUT:MUSK:Gln348Pro	PROT:O15146	MUSK	Q	348	P	Q348P	Likely pathogenic	1	1	5	206
MUT:MUSK:Glu794Asp	PROT:O15146	MUSK	E	794	D	E794D	Likely pathogenic	1	1	5	19
MUT:MUSK:Gly107Glu	PROT:O15146	MUSK	G	107	E	G107E	Benign/Likely benign	0	1	5	447
MUT:MUSK:Ile133Thr	PROT:O15146	MUSK	I	133	T	I133T	Benign/Likely benign	0	2	5	421
MUT:MUSK:Ile167Thr	PROT:O15146	MUSK	I	167	T	I167T	Benign/Likely benign	0	2	5	387
MUT:MUSK:Ile575Thr	PROT:O15146	MUSK	I	575	T	I575T	Pathogenic/Likely pathogenic	1	1	5	2
MUT:MUSK:Leu545Pro	PROT:O15146	MUSK	L	545	P	L545P	Likely pathogenic	1	1	5	9
MUT:MUSK:Lys720Glu	PROT:O15146	MUSK	K	720	E	K720E	Likely pathogenic	1	1	5	39
MUT:MUSK:Met413Ile	PROT:O15146	MUSK	M	413	I	M413I	Benign	0	1	5	141
MUT:MUSK:Pro344Arg	PROT:O15146	MUSK	P	344	R	P344R	Likely pathogenic	1	1	5	210
MUT:MUSK:Ser159Gly	PROT:O15146	MUSK	S	159	G	S159G	Benign	0	1	5	395
MUT:MUSK:Thr100Met	PROT:O15146	MUSK	T	100	M	T100M	Benign	0	1	5	454
MUT:MUSK:Tyr397His	PROT:O15146	MUSK	Y	397	H	Y397H	Benign	0	1	5	157
MUT:MUSK:Val829Leu	PROT:O15146	MUSK	V	829	L	V829L	Benign	0	1	5	16
MUT:MUTYH:Ala16Pro	PROT:Q9UIF7	MUTYH	A	16	P	A16P	Benign	0	1	9	7
MUT:MUTYH:Ala17Ser	PROT:Q9UIF7	MUTYH	A	17	S	A17S	Likely benign	0	1	9	8
MUT:MUTYH:Ala220Asp	PROT:Q9UIF7	MUTYH	A	220	D	A220D	Likely pathogenic	1	1	9	31
MUT:MUTYH:Ala238Pro	PROT:Q9UIF7	MUTYH	A	238	P	A238P	Likely pathogenic	1	1	9	49
MUT:MUTYH:Ala245Asp	PROT:Q9UIF7	MUTYH	A	245	D	A245D	Benign	0	1	9	56
MUT:MUTYH:Ala32Val	PROT:Q9UIF7	MUTYH	A	32	V	A32V	Benign	0	1	9	23
MUT:MUTYH:Ala345Val	PROT:Q9UIF7	MUTYH	A	345	V	A345V	Benign/Likely benign	0	3	9	15
MUT:MUTYH:Ala400Ser	PROT:Q9UIF7	MUTYH	A	400	S	A400S	Benign	0	1	9	15
MUT:MUTYH:Ala405Thr	PROT:Q9UIF7	MUTYH	A	405	T	A405T	Benign	0	1	9	10
MUT:MUTYH:Ala41Ser	PROT:Q9UIF7	MUTYH	A	41	S	A41S	Benign	0	1	9	32
MUT:MUTYH:Ala41Thr	PROT:Q9UIF7	MUTYH	A	41	T	A41T	Benign	0	1	9	32
MUT:MUTYH:Ala445Ser	PROT:Q9UIF7	MUTYH	A	445	S	A445S	Likely benign	0	1	9	30
MUT:MUTYH:Ala445Val	PROT:Q9UIF7	MUTYH	A	445	V	A445V	Likely benign	0	1	9	30
MUT:MUTYH:Ala67Val	PROT:Q9UIF7	MUTYH	A	67	V	A67V	Likely benign	0	1	9	38
MUT:MUTYH:Arg10Ser	PROT:Q9UIF7	MUTYH	R	10	S	R10S	Likely benign	0	1	9	1
MUT:MUTYH:Arg13Gly	PROT:Q9UIF7	MUTYH	R	13	G	R13G	Benign	0	1	9	4
MUT:MUTYH:Arg154Cys	PROT:Q9UIF7	MUTYH	R	154	C	R154C	Pathogenic/Likely pathogenic	1	4	9	35
MUT:MUTYH:Arg154His	PROT:Q9UIF7	MUTYH	R	154	H	R154H	Pathogenic	1	4	9	35
MUT:MUTYH:Arg213Trp	PROT:Q9UIF7	MUTYH	R	213	W	R213W	Pathogenic/Likely pathogenic	1	2	9	24
MUT:MUTYH:Arg217Cys	PROT:Q9UIF7	MUTYH	R	217	C	R217C	Pathogenic	1	4	9	28
MUT:MUTYH:Arg217His	PROT:Q9UIF7	MUTYH	R	217	H	R217H	Pathogenic/Likely pathogenic	1	6	9	28
MUT:MUTYH:Arg219Gly	PROT:Q9UIF7	MUTYH	R	219	G	R219G	Likely pathogenic	1	2	9	30
MUT:MUTYH:Arg22Ser	PROT:Q9UIF7	MUTYH	R	22	S	R22S	Benign	0	1	9	13
MUT:MUTYH:Arg246Pro	PROT:Q9UIF7	MUTYH	R	246	P	R246P	Likely pathogenic	1	1	9	57
MUT:MUTYH:Arg246Trp	PROT:Q9UIF7	MUTYH	R	246	W	R246W	Pathogenic/Likely pathogenic	1	4	9	57
MUT:MUTYH:Arg266Leu	PROT:Q9UIF7	MUTYH	R	266	L	R266L	Likely benign	0	1	9	77
MUT:MUTYH:Arg389Ser	PROT:Q9UIF7	MUTYH	R	389	S	R389S	Benign	0	1	9	26
MUT:MUTYH:Arg482Met	PROT:Q9UIF7	MUTYH	R	482	M	R482M	Benign	0	1	9	12
MUT:MUTYH:Arg506Gln	PROT:Q9UIF7	MUTYH	R	506	Q	R506Q	Benign/Likely benign	0	3	9	0
MUT:MUTYH:Arg60Thr	PROT:Q9UIF7	MUTYH	R	60	T	R60T	Likely pathogenic	1	1	9	45
MUT:MUTYH:Arg81Gly	PROT:Q9UIF7	MUTYH	R	81	G	R81G	Likely pathogenic	1	2	9	24
MUT:MUTYH:Arg81Pro	PROT:Q9UIF7	MUTYH	R	81	P	R81P	Likely pathogenic	1	2	9	24
MUT:MUTYH:Arg81Trp	PROT:Q9UIF7	MUTYH	R	81	W	R81W	Pathogenic/Likely pathogenic	1	4	9	24
MUT:MUTYH:Arg87Lys	PROT:Q9UIF7	MUTYH	R	87	K	R87K	Benign	0	1	9	18
MUT:MUTYH:Asn143Tyr	PROT:Q9UIF7	MUTYH	N	143	Y	N143Y	Benign	0	1	9	38
MUT:MUTYH:Asn210Ser	PROT:Q9UIF7	MUTYH	N	210	S	N210S	Pathogenic/Likely pathogenic	1	3	9	21
MUT:MUTYH:Asn307Lys	PROT:Q9UIF7	MUTYH	N	307	K	N307K	Benign	0	1	9	53
MUT:MUTYH:Asn366Lys	PROT:Q9UIF7	MUTYH	N	366	K	N366K	Benign	0	2	9	6
MUT:MUTYH:Asn503Ser	PROT:Q9UIF7	MUTYH	N	503	S	N503S	Likely benign	0	1	9	3
MUT:MUTYH:Asp133Gly	PROT:Q9UIF7	MUTYH	D	133	G	D133G	Likely benign	0	1	9	28
MUT:MUTYH:Asp208Asn	PROT:Q9UIF7	MUTYH	D	208	N	D208N	Likely pathogenic	1	1	9	19
MUT:MUTYH:Asp208Glu	PROT:Q9UIF7	MUTYH	D	208	E	D208E	Likely pathogenic	1	1	9	19
MUT:MUTYH:Asp243Val	PROT:Q9UIF7	MUTYH	D	243	V	D243V	Likely pathogenic	1	1	9	54
MUT:MUTYH:Asp91Asn	PROT:Q9UIF7	MUTYH	D	91	N	D91N	Likely benign	0	1	9	14
MUT:MUTYH:Asp94Asn	PROT:Q9UIF7	MUTYH	D	94	N	D94N	Benign	0	1	9	11
MUT:MUTYH:Asp94His	PROT:Q9UIF7	MUTYH	D	94	H	D94H	Benign	0	1	9	11
MUT:MUTYH:Cys216Gly	PROT:Q9UIF7	MUTYH	C	216	G	C216G	Likely pathogenic	1	1	9	27
MUT:MUTYH:Cys347Tyr	PROT:Q9UIF7	MUTYH	C	347	Y	C347Y	Likely pathogenic	1	1	9	13
MUT:MUTYH:Gln15Pro	PROT:Q9UIF7	MUTYH	Q	15	P	Q15P	Benign	0	1	9	6
MUT:MUTYH:Gln19Lys	PROT:Q9UIF7	MUTYH	Q	19	K	Q19K	Benign	0	1	9	10
MUT:MUTYH:Gln233Arg	PROT:Q9UIF7	MUTYH	Q	233	R	Q233R	Likely benign	0	1	9	44
MUT:MUTYH:Gln23Lys	PROT:Q9UIF7	MUTYH	Q	23	K	Q23K	Benign	0	1	9	14
MUT:MUTYH:Gln252Arg	PROT:Q9UIF7	MUTYH	Q	252	R	Q252R	Likely pathogenic	1	1	9	63
MUT:MUTYH:Gln271Lys	PROT:Q9UIF7	MUTYH	Q	271	K	Q271K	Likely benign	0	1	9	82
MUT:MUTYH:Gln310His	PROT:Q9UIF7	MUTYH	Q	310	H	Q310H	Benign	0	4	9	50
MUT:MUTYH:Gln310Leu	PROT:Q9UIF7	MUTYH	Q	310	L	Q310L	Benign	0	1	9	50
MUT:MUTYH:Gln323His	PROT:Q9UIF7	MUTYH	Q	323	H	Q323H	Likely benign	0	1	9	37
MUT:MUTYH:Gln386Arg	PROT:Q9UIF7	MUTYH	Q	386	R	Q386R	Pathogenic	1	1	9	26
MUT:MUTYH:Gln435Arg	PROT:Q9UIF7	MUTYH	Q	435	R	Q435R	Benign	0	1	9	20
MUT:MUTYH:Gln470Glu	PROT:Q9UIF7	MUTYH	Q	470	E	Q470E	Likely benign	0	1	9	24
MUT:MUTYH:Gln473Lys	PROT:Q9UIF7	MUTYH	Q	473	K	Q473K	Benign	0	1	9	21
MUT:MUTYH:Gln499Lys	PROT:Q9UIF7	MUTYH	Q	499	K	Q499K	Benign	0	1	9	5
MUT:MUTYH:Gln521Lys	PROT:Q9UIF7	MUTYH	Q	521	K	Q521K	Benign	0	1	9	14
MUT:MUTYH:Gln78Arg	PROT:Q9UIF7	MUTYH	Q	78	R	Q78R	Likely benign	0	1	9	27
MUT:MUTYH:Glu106Gly	PROT:Q9UIF7	MUTYH	E	106	G	E106G	Likely pathogenic	1	1	9	1
MUT:MUTYH:Glu140Asp	PROT:Q9UIF7	MUTYH	E	140	D	E140D	Likely pathogenic	1	2	9	35
MUT:MUTYH:Glu167Asp	PROT:Q9UIF7	MUTYH	E	167	D	E167D	Benign	0	1	9	22
MUT:MUTYH:Glu275Gln	PROT:Q9UIF7	MUTYH	E	275	Q	E275Q	Likely benign	0	1	9	85
MUT:MUTYH:Glu350Gly	PROT:Q9UIF7	MUTYH	E	350	G	E350G	Likely benign	0	1	9	10
MUT:MUTYH:Glu385Gly	PROT:Q9UIF7	MUTYH	E	385	G	E385G	Likely benign	0	1	9	25
MUT:MUTYH:Glu413Gln	PROT:Q9UIF7	MUTYH	E	413	Q	E413Q	Likely benign	0	1	9	2
MUT:MUTYH:Glu413Val	PROT:Q9UIF7	MUTYH	E	413	V	E413V	Benign	0	1	9	2
MUT:MUTYH:Glu433Gly	PROT:Q9UIF7	MUTYH	E	433	G	E433G	Likely benign	0	1	9	18
MUT:MUTYH:Glu46Gly	PROT:Q9UIF7	MUTYH	E	46	G	E46G	Benign	0	1	9	37
MUT:MUTYH:Glu60Gln	PROT:Q9UIF7	MUTYH	E	60	Q	E60Q	Likely benign	0	1	9	45
MUT:MUTYH:Glu64Ala	PROT:Q9UIF7	MUTYH	E	64	A	E64A	Benign	0	1	9	41
MUT:MUTYH:Glu64Asp	PROT:Q9UIF7	MUTYH	E	64	D	E64D	Benign	0	1	9	41
MUT:MUTYH:Glu92Ala	PROT:Q9UIF7	MUTYH	E	92	A	E92A	Benign	0	1	9	13
MUT:MUTYH:Glu92Gly	PROT:Q9UIF7	MUTYH	E	92	G	E92G	Benign	0	1	9	13
MUT:MUTYH:Gly123Glu	PROT:Q9UIF7	MUTYH	G	123	E	G123E	Likely benign	0	1	9	18
MUT:MUTYH:Gly155Asp	PROT:Q9UIF7	MUTYH	G	155	D	G155D	Pathogenic/Likely pathogenic	1	3	9	34
MUT:MUTYH:Gly188Trp	PROT:Q9UIF7	MUTYH	G	188	W	G188W	Likely pathogenic	1	1	9	1
MUT:MUTYH:Gly222Val	PROT:Q9UIF7	MUTYH	G	222	V	G222V	Likely pathogenic	1	1	9	33
MUT:MUTYH:Gly258Glu	PROT:Q9UIF7	MUTYH	G	258	E	G258E	Pathogenic/Likely pathogenic	1	3	9	69
MUT:MUTYH:Gly353Val	PROT:Q9UIF7	MUTYH	G	353	V	G353V	Benign	0	1	9	7
MUT:MUTYH:Gly356Val	PROT:Q9UIF7	MUTYH	G	356	V	G356V	Likely benign	0	1	9	4
MUT:MUTYH:Gly368Asp	PROT:Q9UIF7	MUTYH	G	368	D	G368D	Pathogenic/Likely pathogenic	1	19	9	8
MUT:MUTYH:Gly372Val	PROT:Q9UIF7	MUTYH	G	372	V	G372V	Likely pathogenic	1	1	9	12
MUT:MUTYH:Gly39Val	PROT:Q9UIF7	MUTYH	G	39	V	G39V	Benign	0	1	9	30
MUT:MUTYH:Gly434Arg	PROT:Q9UIF7	MUTYH	G	434	R	G434R	Likely benign	0	1	9	19
MUT:MUTYH:Gly434Trp	PROT:Q9UIF7	MUTYH	G	434	W	G434W	Likely benign	0	1	9	19
MUT:MUTYH:Gly471Arg	PROT:Q9UIF7	MUTYH	G	471	R	G471R	Benign	0	1	9	23
MUT:MUTYH:Gly475Arg	PROT:Q9UIF7	MUTYH	G	475	R	G475R	Likely benign	0	1	9	19
MUT:MUTYH:Gly497Cys	PROT:Q9UIF7	MUTYH	G	497	C	G497C	Likely benign	0	1	9	3
MUT:MUTYH:Gly70Glu	PROT:Q9UIF7	MUTYH	G	70	E	G70E	Likely benign	0	1	9	35
MUT:MUTYH:Gly9Glu	PROT:Q9UIF7	MUTYH	G	9	E	G9E	Benign	0	1	9	0
MUT:MUTYH:His12Gln	PROT:Q9UIF7	MUTYH	H	12	Q	H12Q	Benign	0	1	9	3
MUT:MUTYH:His12Leu	PROT:Q9UIF7	MUTYH	H	12	L	H12L	Benign	0	1	9	3
MUT:MUTYH:His172Tyr	PROT:Q9UIF7	MUTYH	H	172	Y	H172Y	Likely benign	0	1	9	17
MUT:MUTYH:His312Pro	PROT:Q9UIF7	MUTYH	H	312	P	H312P	Benign	0	1	9	48
MUT:MUTYH:His312Tyr	PROT:Q9UIF7	MUTYH	H	312	Y	H312Y	Benign	0	1	9	48
MUT:MUTYH:His407Arg	PROT:Q9UIF7	MUTYH	H	407	R	H407R	Likely benign	0	1	9	8
MUT:MUTYH:His407Asn	PROT:Q9UIF7	MUTYH	H	407	N	H407N	Benign	0	1	9	8
MUT:MUTYH:His410Arg	PROT:Q9UIF7	MUTYH	H	410	R	H410R	Benign	0	1	9	5
MUT:MUTYH:His454Tyr	PROT:Q9UIF7	MUTYH	H	454	Y	H454Y	Likely benign	0	1	9	39
MUT:MUTYH:His514Asp	PROT:Q9UIF7	MUTYH	H	514	D	H514D	Benign	0	1	9	8
MUT:MUTYH:His514Pro	PROT:Q9UIF7	MUTYH	H	514	P	H514P	Likely benign	0	1	9	8
MUT:MUTYH:His57Asp	PROT:Q9UIF7	MUTYH	H	57	D	H57D	Likely pathogenic	1	1	9	48
MUT:MUTYH:Ile118Val	PROT:Q9UIF7	MUTYH	I	118	V	I118V	Likely benign	0	1	9	13
MUT:MUTYH:Ile198Met	PROT:Q9UIF7	MUTYH	I	198	M	I198M	Likely benign	0	1	9	9
MUT:MUTYH:Leu158Pro	PROT:Q9UIF7	MUTYH	L	158	P	L158P	Likely pathogenic	1	1	9	31
MUT:MUTYH:Leu183Ile	PROT:Q9UIF7	MUTYH	L	183	I	L183I	Benign	0	1	9	6
MUT:MUTYH:Leu237Ile	PROT:Q9UIF7	MUTYH	L	237	I	L237I	Likely benign	0	1	9	48
MUT:MUTYH:Leu360Pro	PROT:Q9UIF7	MUTYH	L	360	P	L360P	Pathogenic/Likely pathogenic	1	2	9	0
MUT:MUTYH:Leu361Arg	PROT:Q9UIF7	MUTYH	L	361	R	L361R	Likely pathogenic	1	1	9	1
MUT:MUTYH:Leu369Met	PROT:Q9UIF7	MUTYH	L	369	M	L369M	Likely benign	0	1	9	9
MUT:MUTYH:Leu392Arg	PROT:Q9UIF7	MUTYH	L	392	R	L392R	Likely pathogenic	1	1	9	23
MUT:MUTYH:Leu40Arg	PROT:Q9UIF7	MUTYH	L	40	R	L40R	Benign	0	1	9	31
MUT:MUTYH:Leu411Val	PROT:Q9UIF7	MUTYH	L	411	V	L411V	Likely benign	0	1	9	4
MUT:MUTYH:Leu423Met	PROT:Q9UIF7	MUTYH	L	423	M	L423M	Likely benign	0	1	9	8
MUT:MUTYH:Leu501Met	PROT:Q9UIF7	MUTYH	L	501	M	L501M	Benign/Likely benign	0	3	9	5
MUT:MUTYH:Leu83Pro	PROT:Q9UIF7	MUTYH	L	83	P	L83P	Pathogenic/Likely pathogenic	1	2	9	22
MUT:MUTYH:Lys127Arg	PROT:Q9UIF7	MUTYH	K	127	R	K127R	Benign	0	1	9	22
MUT:MUTYH:Lys3Arg	PROT:Q9UIF7	MUTYH	K	3	R	K3R	Benign	0	1	9	3
MUT:MUTYH:Lys492Glu	PROT:Q9UIF7	MUTYH	K	492	E	K492E	Benign	0	1	9	2
MUT:MUTYH:Met1Val	PROT:Q9UIF7	MUTYH	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	9	5
MUT:MUTYH:Met255Val	PROT:Q9UIF7	MUTYH	M	255	V	M255V	Pathogenic/Likely pathogenic	1	3	9	66
MUT:MUTYH:Met478Lys	PROT:Q9UIF7	MUTYH	M	478	K	M478K	Likely benign	0	1	9	16
MUT:MUTYH:Phe504Ser	PROT:Q9UIF7	MUTYH	F	504	S	F504S	Likely benign	0	1	9	2
MUT:MUTYH:Pro129Leu	PROT:Q9UIF7	MUTYH	P	129	L	P129L	Pathogenic/Likely pathogenic	1	2	9	24
MUT:MUTYH:Pro244Thr	PROT:Q9UIF7	MUTYH	P	244	T	P244T	Likely benign	0	1	9	55
MUT:MUTYH:Pro247Gln	PROT:Q9UIF7	MUTYH	P	247	Q	P247Q	Likely pathogenic	1	1	9	58
MUT:MUTYH:Pro247Leu	PROT:Q9UIF7	MUTYH	P	247	L	P247L	Likely pathogenic	1	1	9	58
MUT:MUTYH:Pro267Leu	PROT:Q9UIF7	MUTYH	P	267	L	P267L	Pathogenic/Likely pathogenic	1	4	9	78
MUT:MUTYH:Pro34Thr	PROT:Q9UIF7	MUTYH	P	34	T	P34T	Benign	0	1	9	25
MUT:MUTYH:Pro377Arg	PROT:Q9UIF7	MUTYH	P	377	R	P377R	Likely pathogenic	1	1	9	17
MUT:MUTYH:Pro377Leu	PROT:Q9UIF7	MUTYH	P	377	L	P377L	Pathogenic	1	4	9	17
MUT:MUTYH:Pro442Ala	PROT:Q9UIF7	MUTYH	P	442	A	P442A	Benign	0	1	9	27
MUT:MUTYH:Pro442Ser	PROT:Q9UIF7	MUTYH	P	442	S	P442S	Likely benign	0	1	9	27
MUT:MUTYH:Pro44Gln	PROT:Q9UIF7	MUTYH	P	44	Q	P44Q	Likely benign	0	1	9	35
MUT:MUTYH:Pro44Ser	PROT:Q9UIF7	MUTYH	P	44	S	P44S	Benign	0	1	9	35
MUT:MUTYH:Pro460Leu	PROT:Q9UIF7	MUTYH	P	460	L	P460L	Benign/Likely benign	0	2	9	34
MUT:MUTYH:Pro488Ser	PROT:Q9UIF7	MUTYH	P	488	S	P488S	Benign	0	1	9	6
MUT:MUTYH:Ser105Pro	PROT:Q9UIF7	MUTYH	S	105	P	S105P	Likely pathogenic	1	1	9	0
MUT:MUTYH:Ser136Gly	PROT:Q9UIF7	MUTYH	S	136	G	S136G	Benign	0	1	9	31
MUT:MUTYH:Ser18Asn	PROT:Q9UIF7	MUTYH	S	18	N	S18N	Benign	0	1	9	9
MUT:MUTYH:Ser226Arg	PROT:Q9UIF7	MUTYH	S	226	R	S226R	Benign	0	1	9	37
MUT:MUTYH:Ser227Ile	PROT:Q9UIF7	MUTYH	S	227	I	S227I	Likely benign	0	1	9	38
MUT:MUTYH:Ser294Ile	PROT:Q9UIF7	MUTYH	S	294	I	S294I	Benign	0	1	9	66
MUT:MUTYH:Ser296Pro	PROT:Q9UIF7	MUTYH	S	296	P	S296P	Likely benign	0	1	9	64
MUT:MUTYH:Ser298Arg	PROT:Q9UIF7	MUTYH	S	298	R	S298R	Benign	0	1	9	62
MUT:MUTYH:Ser335Arg	PROT:Q9UIF7	MUTYH	S	335	R	S335R	Benign	0	1	9	25
MUT:MUTYH:Ser343Arg	PROT:Q9UIF7	MUTYH	S	343	R	S343R	Benign	0	1	9	17
MUT:MUTYH:Ser343Asn	PROT:Q9UIF7	MUTYH	S	343	N	S343N	Benign	0	1	9	17
MUT:MUTYH:Ser35Phe	PROT:Q9UIF7	MUTYH	S	35	F	S35F	Likely benign	0	1	9	26
MUT:MUTYH:Ser483Tyr	PROT:Q9UIF7	MUTYH	S	483	Y	S483Y	Likely benign	0	1	9	11
MUT:MUTYH:Ser486Thr	PROT:Q9UIF7	MUTYH	S	486	T	S486T	Benign	0	1	9	8
MUT:MUTYH:Ser487Phe	PROT:Q9UIF7	MUTYH	S	487	F	S487F	Benign/Likely benign	0	3	9	7
MUT:MUTYH:Ser487Thr	PROT:Q9UIF7	MUTYH	S	487	T	S487T	Likely benign	0	1	9	7
MUT:MUTYH:Ser507Phe	PROT:Q9UIF7	MUTYH	S	507	F	S507F	Benign	0	1	9	1
MUT:MUTYH:Ser507Pro	PROT:Q9UIF7	MUTYH	S	507	P	S507P	Likely benign	0	1	9	1
MUT:MUTYH:Ser510Cys	PROT:Q9UIF7	MUTYH	S	510	C	S510C	Benign	0	1	9	4
MUT:MUTYH:Ser71Gly	PROT:Q9UIF7	MUTYH	S	71	G	S71G	Benign	0	1	9	34
MUT:MUTYH:Ser74Thr	PROT:Q9UIF7	MUTYH	S	74	T	S74T	Benign	0	1	9	31
MUT:MUTYH:Thr122Ala	PROT:Q9UIF7	MUTYH	T	122	A	T122A	Benign	0	1	9	17
MUT:MUTYH:Thr346Ala	PROT:Q9UIF7	MUTYH	T	346	A	T346A	Benign	0	1	9	14
MUT:MUTYH:Thr406Arg	PROT:Q9UIF7	MUTYH	T	406	R	T406R	Likely benign	0	1	9	9
MUT:MUTYH:Thr406Lys	PROT:Q9UIF7	MUTYH	T	406	K	T406K	Likely benign	0	1	9	9
MUT:MUTYH:Thr417Ser	PROT:Q9UIF7	MUTYH	T	417	S	T417S	Benign	0	1	9	2
MUT:MUTYH:Thr424Pro	PROT:Q9UIF7	MUTYH	T	424	P	T424P	Likely pathogenic	1	1	9	9
MUT:MUTYH:Thr439Asn	PROT:Q9UIF7	MUTYH	T	439	N	T439N	Benign	0	1	9	24
MUT:MUTYH:Thr439Ile	PROT:Q9UIF7	MUTYH	T	439	I	T439I	Benign	0	1	9	24
MUT:MUTYH:Thr455Asn	PROT:Q9UIF7	MUTYH	T	455	N	T455N	Benign	0	1	9	39
MUT:MUTYH:Trp103Arg	PROT:Q9UIF7	MUTYH	W	103	R	W103R	Pathogenic/Likely pathogenic	1	2	9	2
MUT:MUTYH:Trp128Gly	PROT:Q9UIF7	MUTYH	W	128	G	W128G	Likely pathogenic	1	1	9	23
MUT:MUTYH:Trp399Ser	PROT:Q9UIF7	MUTYH	W	399	S	W399S	Likely benign	0	1	9	16
MUT:MUTYH:Trp447Arg	PROT:Q9UIF7	MUTYH	W	447	R	W447R	Likely pathogenic	1	2	9	32
MUT:MUTYH:Trp85Gly	PROT:Q9UIF7	MUTYH	W	85	G	W85G	Likely pathogenic	1	1	9	20
MUT:MUTYH:Tyr121His	PROT:Q9UIF7	MUTYH	Y	121	H	Y121H	Likely pathogenic	1	1	9	16
MUT:MUTYH:Tyr151Cys	PROT:Q9UIF7	MUTYH	Y	151	C	Y151C	Pathogenic/Likely pathogenic	1	12	9	38
MUT:MUTYH:Tyr151Ser	PROT:Q9UIF7	MUTYH	Y	151	S	Y151S	Likely pathogenic	1	1	9	38
MUT:MUTYH:Tyr152Cys	PROT:Q9UIF7	MUTYH	Y	152	C	Y152C	Likely pathogenic	1	1	9	37
MUT:MUTYH:Val166Ala	PROT:Q9UIF7	MUTYH	V	166	A	V166A	Likely benign	0	1	9	23
MUT:MUTYH:Val187Met	PROT:Q9UIF7	MUTYH	V	187	M	V187M	Pathogenic/Likely pathogenic	1	2	9	2
MUT:MUTYH:Val218Phe	PROT:Q9UIF7	MUTYH	V	218	F	V218F	Pathogenic/Likely pathogenic	1	3	9	29
MUT:MUTYH:Val261Leu	PROT:Q9UIF7	MUTYH	V	261	L	V261L	Likely benign	0	1	9	72
MUT:MUTYH:Val284Leu	PROT:Q9UIF7	MUTYH	V	284	L	V284L	Likely benign	0	1	9	76
MUT:MUTYH:Val328Ala	PROT:Q9UIF7	MUTYH	V	328	A	V328A	Likely benign	0	1	9	32
MUT:MUTYH:Val415Ile	PROT:Q9UIF7	MUTYH	V	415	I	V415I	Benign	0	1	9	0
MUT:MUTYH:Val458Ile	PROT:Q9UIF7	MUTYH	V	458	I	V458I	Benign	0	1	9	36
MUT:MUTYH:Val465Phe	PROT:Q9UIF7	MUTYH	V	465	F	V465F	Pathogenic/Likely pathogenic	1	4	9	29
MUT:MUTYH:Val485Gly	PROT:Q9UIF7	MUTYH	V	485	G	V485G	Benign	0	1	9	9
MUT:MUTYH:Val8Met	PROT:Q9UIF7	MUTYH	V	8	M	V8M	Benign	0	4	9	1
MUT:MVD:Arg154Trp	PROT:P53602	MVD	R	154	W	R154W	Benign	0	1	16	2
MUT:MVD:Asn292Ser	PROT:P53602	MVD	N	292	S	N292S	Pathogenic	1	1	16	70
MUT:MVD:Phe249Ser	PROT:P53602	MVD	F	249	S	F249S	Pathogenic	1	2	16	27
MUT:MVP:Val635Ile	PROT:Q14764	MVP	V	635	I	V635I	Benign	0	5	18	2
MUT:MXI1:Ala121Val	PROT:P50539	MXI1	A	121	V	A121V	Pathogenic	1	1	1	75
MUT:MXI1:Ala43Thr	PROT:P50539	MXI1	A	43	T	A43T	Likely benign	0	1	1	3
MUT:MXI1:Glu219Ala	PROT:P50539	MXI1	E	219	A	E219A	Pathogenic	1	1	1	173
MUT:MXI1:Pro105Leu	PROT:P50539	MXI1	P	105	L	P105L	Likely pathogenic	1	1	1	59
MUT:MXI1:Pro115Ser	PROT:P50539	MXI1	P	115	S	P115S	Benign	0	1	1	69
MUT:MXI1:Pro28Arg	PROT:P50539	MXI1	P	28	R	P28R	Benign	0	1	1	18
MUT:MXRA5:Val595Met	PROT:Q9NR99	MXRA5	V	595	M	V595M	Likely benign	0	1	16	78
MUT:MYCBP2:Ala1919Ser	PROT:O75592	MYCBP2	A	1919	S	A1919S	Benign	0	2	80	90
MUT:MYCBP2:Arg2747His	PROT:O75592	MYCBP2	R	2747	H	R2747H	Likely benign	0	1	80	35
MUT:MYCBP2:Arg2841His	PROT:O75592	MYCBP2	R	2841	H	R2841H	Benign	0	1	80	2
MUT:MYCBP2:Asn2076Ser	PROT:O75592	MYCBP2	N	2076	S	N2076S	Likely benign	0	1	80	99
MUT:MYCBP2:Asn86Ser	PROT:O75592	MYCBP2	N	86	S	N86S	Likely benign	0	1	80	17
MUT:MYCBP2:Ile1498Val	PROT:O75592	MYCBP2	I	1498	V	I1498V	Benign	0	3	80	12
MUT:MYCBP2:Leu2788Ser	PROT:O75592	MYCBP2	L	2788	S	L2788S	Benign/Likely benign	0	1	80	13
MUT:MYCBP2:Met1Arg	PROT:O75592	MYCBP2	M	1	R	M1R	Likely benign	0	1	80	68
MUT:MYCBP2:Ser3619Asn	PROT:O75592	MYCBP2	S	3619	N	S3619N	Likely benign	0	1	80	100
MUT:MYCBP2:Ser432Thr	PROT:O75592	MYCBP2	S	432	T	S432T	Likely benign	0	1	80	2
MUT:MYCBP2:Ser4416Asn	PROT:O75592	MYCBP2	S	4416	N	S4416N	Likely benign	0	1	80	69
MUT:MYCBP2:Thr4127Ala	PROT:O75592	MYCBP2	T	4127	A	T4127A	Likely benign	0	1	80	3
MUT:MYCBP2:Val1689Ile	PROT:O75592	MYCBP2	V	1689	I	V1689I	Likely benign	0	1	80	21
MUT:MYD88:Ala132Thr	PROT:Q99836	MYD88	A	132	T	A132T	Likely benign	0	1	12	0
MUT:MYD88:Arg180Gln	PROT:Q99836	MYD88	R	180	Q	R180Q	Likely benign	0	1	12	23
MUT:MYD88:Arg180Trp	PROT:Q99836	MYD88	R	180	W	R180W	Likely benign	0	1	12	23
MUT:MYD88:Leu93Pro	PROT:Q99836	MYD88	L	93	P	L93P	Pathogenic	1	1	12	2
MUT:MYD88:Met27Thr	PROT:Q99836	MYD88	M	27	T	M27T	Benign	0	2	12	68
MUT:MYD88:Thr202Pro	PROT:Q99836	MYD88	T	202	P	T202P	Benign	0	1	12	1
MUT:MYF5:Arg95Cys	PROT:P13349	MYF5	R	95	C	R95C	Pathogenic	1	1	2	38
MUT:MYF6:Ala90Asp	PROT:P23409	MYF6	A	90	D	A90D	Benign/Likely benign	0	1	1	1
MUT:MYF6:Ala98Ser	PROT:P23409	MYF6	A	98	S	A98S	Benign	0	1	1	9
MUT:MYF6:Leu116Pro	PROT:P23409	MYF6	L	116	P	L116P	Likely benign	0	1	1	27
MUT:MYF6:Thr182Pro	PROT:P23409	MYF6	T	182	P	T182P	Likely benign	0	2	1	93
MUT:MYH11:Ala1104Thr	PROT:P35749	MYH11	A	1104	T	A1104T	Benign/Likely benign	0	2	65	16
MUT:MYH11:Ala1202Thr	PROT:P35749	MYH11	A	1202	T	A1202T	Benign/Likely benign	0	2	65	13
MUT:MYH11:Ala1234Thr	PROT:P35749	MYH11	A	1234	T	A1234T	Benign	0	4	65	8
MUT:MYH11:Ala1259Val	PROT:P35749	MYH11	A	1259	V	A1259V	Benign/Likely benign	0	2	65	7
MUT:MYH11:Arg1535Gln	PROT:P35749	MYH11	R	1535	Q	R1535Q	Benign/Likely benign	0	4	65	23
MUT:MYH11:Arg34Lys	PROT:P35749	MYH11	R	34	K	R34K	Likely benign	0	1	65	11
MUT:MYH11:Arg624His	PROT:P35749	MYH11	R	624	H	R624H	Benign/Likely benign	0	2	65	14
MUT:MYH11:Asn1899Ser	PROT:P35749	MYH11	N	1899	S	N1899S	Benign/Likely benign	0	2	65	55
MUT:MYH11:Asp1066Asn	PROT:P35749	MYH11	D	1066	N	D1066N	Benign/Likely benign	0	2	65	22
MUT:MYH11:Asp1235Glu	PROT:P35749	MYH11	D	1235	E	D1235E	Likely benign	0	1	65	9
MUT:MYH11:Asp1757Glu	PROT:P35749	MYH11	D	1757	E	D1757E	Likely benign	0	2	65	1
MUT:MYH11:Gln1325Glu	PROT:P35749	MYH11	Q	1325	E	Q1325E	Benign/Likely benign	0	3	65	11
MUT:MYH11:Glu1892Asp	PROT:P35749	MYH11	E	1892	D	E1892D	Benign/Likely benign	0	2	65	62
MUT:MYH11:Gly1393Arg	PROT:P35749	MYH11	G	1393	R	G1393R	Likely benign	0	3	65	22
MUT:MYH11:Ile256Val	PROT:P35749	MYH11	I	256	V	I256V	Likely pathogenic	1	1	65	12
MUT:MYH11:Met1Val	PROT:P35749	MYH11	M	1	V	M1V	Likely pathogenic	1	1	65	7
MUT:MYH11:Met952Ile	PROT:P35749	MYH11	M	952	I	M952I	Likely benign	0	1	65	16
MUT:MYH11:Phe1397Leu	PROT:P35749	MYH11	F	1397	L	F1397L	Likely benign	0	1	65	18
MUT:MYH11:Pro1940Gln	PROT:P35749	MYH11	P	1940	Q	P1940Q	Benign/Likely benign	0	2	65	14
MUT:MYH11:Thr1958Met	PROT:P35749	MYH11	T	1958	M	T1958M	Likely benign	0	1	65	0
MUT:MYH11:Val1879Ile	PROT:P35749	MYH11	V	1879	I	V1879I	Likely benign	0	3	65	64
MUT:MYH11:Val59Ile	PROT:P35749	MYH11	V	59	I	V59I	Likely benign	0	1	65	19
MUT:MYH13:Glu1776Lys	PROT:Q9UKX3	MYH13	E	1776	K	E1776K	Likely benign	0	1	18	12
MUT:MYH13:Ile199Val	PROT:Q9UKX3	MYH13	I	199	V	I199V	Likely benign	0	1	18	73
MUT:MYH14:Ala1250Glu	PROT:Q7Z406	MYH14	A	1250	E	A1250E	Benign	0	1	49	56
MUT:MYH14:Ala2014Thr	PROT:Q7Z406	MYH14	A	2014	T	A2014T	Likely benign	0	1	49	31
MUT:MYH14:Ala882Val	PROT:Q7Z406	MYH14	A	882	V	A882V	Likely benign	0	1	49	37
MUT:MYH14:Arg1562Gln	PROT:Q7Z406	MYH14	R	1562	Q	R1562Q	Benign/Likely benign	0	2	49	27
MUT:MYH14:Arg1816His	PROT:Q7Z406	MYH14	R	1816	H	R1816H	Benign/Likely benign	0	2	49	47
MUT:MYH14:Arg1845Trp	PROT:Q7Z406	MYH14	R	1845	W	R1845W	Benign	0	1	49	76
MUT:MYH14:Arg476His	PROT:Q7Z406	MYH14	R	476	H	R476H	Likely benign	0	1	49	43
MUT:MYH14:Arg767Ser	PROT:Q7Z406	MYH14	R	767	S	R767S	Pathogenic	1	1	49	11
MUT:MYH14:Arg867His	PROT:Q7Z406	MYH14	R	867	H	R867H	Benign	0	1	49	22
MUT:MYH14:Arg88Gln	PROT:Q7Z406	MYH14	R	88	Q	R88Q	Likely benign	0	1	49	43
MUT:MYH14:Arg931His	PROT:Q7Z406	MYH14	R	931	H	R931H	Benign/Likely benign	0	1	49	11
MUT:MYH14:Arg974His	PROT:Q7Z406	MYH14	R	974	H	R974H	Likely benign	0	1	49	11
MUT:MYH14:Arg974Leu	PROT:Q7Z406	MYH14	R	974	L	R974L	Pathogenic	1	1	49	11
MUT:MYH14:Asn402Ser	PROT:Q7Z406	MYH14	N	402	S	N402S	Benign/Likely benign	0	1	49	10
MUT:MYH14:Asp1159Glu	PROT:Q7Z406	MYH14	D	1159	E	D1159E	Likely benign	0	1	49	13
MUT:MYH14:Asp191His	PROT:Q7Z406	MYH14	D	191	H	D191H	Likely pathogenic	1	1	49	2
MUT:MYH14:Asp191Tyr	PROT:Q7Z406	MYH14	D	191	Y	D191Y	Likely pathogenic	1	1	49	2
MUT:MYH14:Cys196Phe	PROT:Q7Z406	MYH14	C	196	F	C196F	Likely pathogenic	1	1	49	3
MUT:MYH14:Gly1695Arg	PROT:Q7Z406	MYH14	G	1695	R	G1695R	Benign/Likely benign	0	1	49	43
MUT:MYH14:Met161Ile	PROT:Q7Z406	MYH14	M	161	I	M161I	Benign	0	1	49	32
MUT:MYH14:Pro31Thr	PROT:Q7Z406	MYH14	P	31	T	P31T	Benign	0	1	49	1
MUT:MYH14:Pro342Ala	PROT:Q7Z406	MYH14	P	342	A	P342A	Benign	0	1	49	54
MUT:MYH14:Ser1365Asn	PROT:Q7Z406	MYH14	S	1365	N	S1365N	Benign/Likely benign	0	1	49	37
MUT:MYH14:Ser378Leu	PROT:Q7Z406	MYH14	S	378	L	S378L	Benign/Likely benign	0	2	49	34
MUT:MYH14:Val1130Ala	PROT:Q7Z406	MYH14	V	1130	A	V1130A	Likely benign	0	1	49	16
MUT:MYH14:Val1291Leu	PROT:Q7Z406	MYH14	V	1291	L	V1291L	Benign/Likely benign	0	2	49	37
MUT:MYH14:Val1473Met	PROT:Q7Z406	MYH14	V	1473	M	V1473M	Benign/Likely benign	0	2	49	4
MUT:MYH14:Val1581Ile	PROT:Q7Z406	MYH14	V	1581	I	V1581I	Benign	0	1	49	10
MUT:MYH6:Ala1130Thr	PROT:P13533	MYH6	A	1130	T	A1130T	Benign	0	2	76	1
MUT:MYH6:Ala936Ser	PROT:P13533	MYH6	A	936	S	A936S	Benign/Likely benign	0	2	76	3
MUT:MYH6:Ala964Ser	PROT:P13533	MYH6	A	964	S	A964S	Benign/Likely benign	0	1	76	2
MUT:MYH6:Arg1636Cys	PROT:P13533	MYH6	R	1636	C	R1636C	Benign/Likely benign	0	1	76	4
MUT:MYH6:Arg29Gln	PROT:P13533	MYH6	R	29	Q	R29Q	Benign/Likely benign	0	2	76	218
MUT:MYH6:Arg721Gln	PROT:P13533	MYH6	R	721	Q	R721Q	Likely pathogenic	1	1	76	4
MUT:MYH6:Asp208Asn	PROT:P13533	MYH6	D	208	N	D208N	Benign/Likely benign	0	3	76	39
MUT:MYH6:Asp377Glu	PROT:P13533	MYH6	D	377	E	D377E	Benign/Likely benign	0	2	76	2
MUT:MYH6:Gln1593Leu	PROT:P13533	MYH6	Q	1593	L	Q1593L	Benign	0	1	76	5
MUT:MYH6:Gln1804Lys	PROT:P13533	MYH6	Q	1804	K	Q1804K	Benign/Likely benign	0	3	76	18
MUT:MYH6:Gln736Lys	PROT:P13533	MYH6	Q	736	K	Q736K	Likely benign	0	1	76	19
MUT:MYH6:Glu1295Gln	PROT:P13533	MYH6	E	1295	Q	E1295Q	Benign/Likely benign	0	2	76	6
MUT:MYH6:Glu218Lys	PROT:P13533	MYH6	E	218	K	E218K	Likely pathogenic	1	1	76	29
MUT:MYH6:Glu948Gly	PROT:P13533	MYH6	E	948	G	E948G	Likely benign	0	1	76	2
MUT:MYH6:Gly408Asp	PROT:P13533	MYH6	G	408	D	G408D	Likely pathogenic	1	1	76	3
MUT:MYH6:Gly415Arg	PROT:P13533	MYH6	G	415	R	G415R	Likely benign	0	1	76	2
MUT:MYH6:Gly56Arg	PROT:P13533	MYH6	G	56	R	G56R	Benign	0	1	76	191
MUT:MYH6:Ile820Asn	PROT:P13533	MYH6	I	820	N	I820N	Pathogenic	1	1	76	36
MUT:MYH6:Leu1345Pro	PROT:P13533	MYH6	L	1345	P	L1345P	Pathogenic	1	1	76	4
MUT:MYH6:Leu24Ile	PROT:P13533	MYH6	L	24	I	L24I	Benign/Likely benign	0	3	76	223
MUT:MYH6:Met1431Ile	PROT:P13533	MYH6	M	1431	I	M1431I	Benign/Likely benign	0	3	76	22
MUT:MYH6:Met363Leu	PROT:P13533	MYH6	M	363	L	M363L	Likely benign	0	2	76	3
MUT:MYH6:Phe245Leu	PROT:P13533	MYH6	F	245	L	F245L	Pathogenic	1	1	76	2
MUT:MYH6:Pro151Leu	PROT:P13533	MYH6	P	151	L	P151L	Likely pathogenic	1	1	76	96
MUT:MYH6:Pro830Leu	PROT:P13533	MYH6	P	830	L	P830L	Pathogenic	1	1	76	46
MUT:MYH6:Ser1734Leu	PROT:P13533	MYH6	S	1734	L	S1734L	Likely benign	0	1	76	10
MUT:MYH6:Thr1311Ile	PROT:P13533	MYH6	T	1311	I	T1311I	Benign/Likely benign	0	1	76	7
MUT:MYH6:Val1101Ala	PROT:P13533	MYH6	V	1101	A	V1101A	Benign	0	1	76	28
MUT:MYH6:Val1613Ala	PROT:P13533	MYH6	V	1613	A	V1613A	Benign	0	1	76	4
MUT:MYH7:Ala1128Thr	PROT:P12883	MYH7	A	1128	T	A1128T	Likely benign	0	2	196	1
MUT:MYH7:Ala1379Ser	PROT:P12883	MYH7	A	1379	S	A1379S	Likely pathogenic	1	1	196	2
MUT:MYH7:Ala1379Thr	PROT:P12883	MYH7	A	1379	T	A1379T	Pathogenic/Likely pathogenic	1	4	196	2
MUT:MYH7:Ala1437Pro	PROT:P12883	MYH7	A	1437	P	A1437P	Pathogenic/Likely pathogenic	1	5	196	14
MUT:MYH7:Ala1549Asp	PROT:P12883	MYH7	A	1549	D	A1549D	Likely pathogenic	1	1	196	1
MUT:MYH7:Ala1603Pro	PROT:P12883	MYH7	A	1603	P	A1603P	Likely pathogenic	1	2	196	2
MUT:MYH7:Ala1636Pro	PROT:P12883	MYH7	A	1636	P	A1636P	Pathogenic	1	1	196	6
MUT:MYH7:Ala1637Thr	PROT:P12883	MYH7	A	1637	T	A1637T	Likely benign	0	7	196	7
MUT:MYH7:Ala1906Gly	PROT:P12883	MYH7	A	1906	G	A1906G	Likely pathogenic	1	1	196	8
MUT:MYH7:Ala199Glu	PROT:P12883	MYH7	A	199	E	A199E	Likely pathogenic	1	1	196	8
MUT:MYH7:Ala199Thr	PROT:P12883	MYH7	A	199	T	A199T	Likely pathogenic	1	3	196	8
MUT:MYH7:Ala199Val	PROT:P12883	MYH7	A	199	V	A199V	Pathogenic/Likely pathogenic	1	1	196	8
MUT:MYH7:Ala200Val	PROT:P12883	MYH7	A	200	V	A200V	Likely pathogenic	1	1	196	7
MUT:MYH7:Ala254Glu	PROT:P12883	MYH7	A	254	E	A254E	Pathogenic	1	1	196	1
MUT:MYH7:Ala26Val	PROT:P12883	MYH7	A	26	V	A26V	Benign	0	7	196	7
MUT:MYH7:Ala321Ser	PROT:P12883	MYH7	A	321	S	A321S	Likely pathogenic	1	1	196	43
MUT:MYH7:Ala355Ser	PROT:P12883	MYH7	A	355	S	A355S	Likely pathogenic	1	1	196	23
MUT:MYH7:Ala355Thr	PROT:P12883	MYH7	A	355	T	A355T	Pathogenic/Likely pathogenic	1	5	196	23
MUT:MYH7:Ala423Thr	PROT:P12883	MYH7	A	423	T	A423T	Likely pathogenic	1	1	196	1
MUT:MYH7:Ala428Asp	PROT:P12883	MYH7	A	428	D	A428D	Pathogenic/Likely pathogenic	1	1	196	1
MUT:MYH7:Ala649Val	PROT:P12883	MYH7	A	649	V	A649V	Likely pathogenic	1	1	196	6
MUT:MYH7:Ala729Pro	PROT:P12883	MYH7	A	729	P	A729P	Pathogenic	1	1	196	9
MUT:MYH7:Ala797Thr	PROT:P12883	MYH7	A	797	T	A797T	Pathogenic/Likely pathogenic	1	11	196	11
MUT:MYH7:Ala820Asp	PROT:P12883	MYH7	A	820	D	A820D	Pathogenic/Likely pathogenic	1	1	196	10
MUT:MYH7:Ala868Pro	PROT:P12883	MYH7	A	868	P	A868P	Likely pathogenic	1	4	196	2
MUT:MYH7:Ala868Thr	PROT:P12883	MYH7	A	868	T	A868T	Likely pathogenic	1	1	196	2
MUT:MYH7:Ala934Val	PROT:P12883	MYH7	A	934	V	A934V	Likely pathogenic	1	1	196	3
MUT:MYH7:Arg1045Leu	PROT:P12883	MYH7	R	1045	L	R1045L	Likely pathogenic	1	3	196	2
MUT:MYH7:Arg1045Ser	PROT:P12883	MYH7	R	1045	S	R1045S	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg1053Gln	PROT:P12883	MYH7	R	1053	Q	R1053Q	Pathogenic	1	4	196	1
MUT:MYH7:Arg1193Gly	PROT:P12883	MYH7	R	1193	G	R1193G	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg1193His	PROT:P12883	MYH7	R	1193	H	R1193H	Likely pathogenic	1	3	196	2
MUT:MYH7:Arg1193Leu	PROT:P12883	MYH7	R	1193	L	R1193L	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg1420Gln	PROT:P12883	MYH7	R	1420	Q	R1420Q	Pathogenic/Likely pathogenic	1	4	196	4
MUT:MYH7:Arg1420Trp	PROT:P12883	MYH7	R	1420	W	R1420W	Likely pathogenic	1	8	196	4
MUT:MYH7:Arg1434Gly	PROT:P12883	MYH7	R	1434	G	R1434G	Likely pathogenic	1	1	196	17
MUT:MYH7:Arg1434Pro	PROT:P12883	MYH7	R	1434	P	R1434P	Likely pathogenic	1	1	196	17
MUT:MYH7:Arg143Gln	PROT:P12883	MYH7	R	143	Q	R143Q	Likely pathogenic	1	4	196	14
MUT:MYH7:Arg143Gly	PROT:P12883	MYH7	R	143	G	R143G	Likely pathogenic	1	2	196	14
MUT:MYH7:Arg143Trp	PROT:P12883	MYH7	R	143	W	R143W	Pathogenic	1	4	196	14
MUT:MYH7:Arg1500Pro	PROT:P12883	MYH7	R	1500	P	R1500P	Pathogenic	1	2	196	1
MUT:MYH7:Arg1500Trp	PROT:P12883	MYH7	R	1500	W	R1500W	Pathogenic/Likely pathogenic	1	3	196	1
MUT:MYH7:Arg1608Pro	PROT:P12883	MYH7	R	1608	P	R1608P	Pathogenic	1	1	196	1
MUT:MYH7:Arg169Gly	PROT:P12883	MYH7	R	169	G	R169G	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg169Ser	PROT:P12883	MYH7	R	169	S	R169S	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg1712Gln	PROT:P12883	MYH7	R	1712	Q	R1712Q	Pathogenic	1	6	196	2
MUT:MYH7:Arg1712Trp	PROT:P12883	MYH7	R	1712	W	R1712W	Likely pathogenic	1	6	196	2
MUT:MYH7:Arg1781Leu	PROT:P12883	MYH7	R	1781	L	R1781L	Likely pathogenic	1	2	196	3
MUT:MYH7:Arg204His	PROT:P12883	MYH7	R	204	H	R204H	Pathogenic/Likely pathogenic	1	7	196	3
MUT:MYH7:Arg237Trp	PROT:P12883	MYH7	R	237	W	R237W	Pathogenic/Likely pathogenic	1	5	196	2
MUT:MYH7:Arg243Pro	PROT:P12883	MYH7	R	243	P	R243P	Pathogenic	1	1	196	3
MUT:MYH7:Arg249Gln	PROT:P12883	MYH7	R	249	Q	R249Q	Pathogenic/Likely pathogenic	1	3	196	3
MUT:MYH7:Arg249Gly	PROT:P12883	MYH7	R	249	G	R249G	Likely pathogenic	1	6	196	3
MUT:MYH7:Arg249Leu	PROT:P12883	MYH7	R	249	L	R249L	Likely pathogenic	1	1	196	3
MUT:MYH7:Arg249Pro	PROT:P12883	MYH7	R	249	P	R249P	Pathogenic	1	1	196	3
MUT:MYH7:Arg272Gly	PROT:P12883	MYH7	R	272	G	R272G	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg281Thr	PROT:P12883	MYH7	R	281	T	R281T	Pathogenic/Likely pathogenic	1	2	196	3
MUT:MYH7:Arg369Gln	PROT:P12883	MYH7	R	369	Q	R369Q	Likely pathogenic	1	6	196	9
MUT:MYH7:Arg403Gln	PROT:P12883	MYH7	R	403	Q	R403Q	Pathogenic	1	5	196	2
MUT:MYH7:Arg403Gly	PROT:P12883	MYH7	R	403	G	R403G	Likely pathogenic	1	1	196	2
MUT:MYH7:Arg403Leu	PROT:P12883	MYH7	R	403	L	R403L	Pathogenic	1	2	196	2
MUT:MYH7:Arg403Trp	PROT:P12883	MYH7	R	403	W	R403W	Pathogenic	1	3	196	2
MUT:MYH7:Arg442Cys	PROT:P12883	MYH7	R	442	C	R442C	Pathogenic/Likely pathogenic	1	3	196	1
MUT:MYH7:Arg442Leu	PROT:P12883	MYH7	R	442	L	R442L	Likely pathogenic	1	1	196	1
MUT:MYH7:Arg453Cys	PROT:P12883	MYH7	R	453	C	R453C	Pathogenic	1	6	196	3
MUT:MYH7:Arg453His	PROT:P12883	MYH7	R	453	H	R453H	Pathogenic	1	4	196	3
MUT:MYH7:Arg453Leu	PROT:P12883	MYH7	R	453	L	R453L	Likely pathogenic	1	1	196	3
MUT:MYH7:Arg453Ser	PROT:P12883	MYH7	R	453	S	R453S	Pathogenic	1	2	196	3
MUT:MYH7:Arg652Gly	PROT:P12883	MYH7	R	652	G	R652G	Pathogenic	1	4	196	5
MUT:MYH7:Arg663Cys	PROT:P12883	MYH7	R	663	C	R663C	Pathogenic/Likely pathogenic	1	4	196	3
MUT:MYH7:Arg663His	PROT:P12883	MYH7	R	663	H	R663H	Pathogenic	1	5	196	3
MUT:MYH7:Arg663Ser	PROT:P12883	MYH7	R	663	S	R663S	Pathogenic/Likely pathogenic	1	3	196	3
MUT:MYH7:Arg671Cys	PROT:P12883	MYH7	R	671	C	R671C	Pathogenic/Likely pathogenic	1	4	196	7
MUT:MYH7:Arg671His	PROT:P12883	MYH7	R	671	H	R671H	Pathogenic/Likely pathogenic	1	2	196	7
MUT:MYH7:Arg671Pro	PROT:P12883	MYH7	R	671	P	R671P	Likely pathogenic	1	1	196	7
MUT:MYH7:Arg694Cys	PROT:P12883	MYH7	R	694	C	R694C	Pathogenic/Likely pathogenic	1	3	196	14
MUT:MYH7:Arg694His	PROT:P12883	MYH7	R	694	H	R694H	Pathogenic/Likely pathogenic	1	3	196	14
MUT:MYH7:Arg712Gly	PROT:P12883	MYH7	R	712	G	R712G	Likely pathogenic	1	1	196	3
MUT:MYH7:Arg712Ser	PROT:P12883	MYH7	R	712	S	R712S	Pathogenic	1	1	196	3
MUT:MYH7:Arg719Gln	PROT:P12883	MYH7	R	719	Q	R719Q	Pathogenic	1	3	196	4
MUT:MYH7:Arg719Pro	PROT:P12883	MYH7	R	719	P	R719P	Pathogenic/Likely pathogenic	1	2	196	4
MUT:MYH7:Arg719Trp	PROT:P12883	MYH7	R	719	W	R719W	Pathogenic	1	5	196	4
MUT:MYH7:Arg723Cys	PROT:P12883	MYH7	R	723	C	R723C	Pathogenic	1	4	196	8
MUT:MYH7:Arg723Gly	PROT:P12883	MYH7	R	723	G	R723G	Pathogenic	1	3	196	8
MUT:MYH7:Arg777Trp	PROT:P12883	MYH7	R	777	W	R777W	Likely pathogenic	1	1	196	5
MUT:MYH7:Arg783Gly	PROT:P12883	MYH7	R	783	G	R783G	Likely pathogenic	1	1	196	1
MUT:MYH7:Arg783Pro	PROT:P12883	MYH7	R	783	P	R783P	Likely pathogenic	1	2	196	1
MUT:MYH7:Arg787His	PROT:P12883	MYH7	R	787	H	R787H	Benign	0	7	196	1
MUT:MYH7:Arg807Pro	PROT:P12883	MYH7	R	807	P	R807P	Likely pathogenic	1	1	196	3
MUT:MYH7:Arg858Cys	PROT:P12883	MYH7	R	858	C	R858C	Pathogenic/Likely pathogenic	1	9	196	1
MUT:MYH7:Arg858Pro	PROT:P12883	MYH7	R	858	P	R858P	Likely pathogenic	1	1	196	1
MUT:MYH7:Arg869Cys	PROT:P12883	MYH7	R	869	C	R869C	Pathogenic/Likely pathogenic	1	4	196	3
MUT:MYH7:Arg869His	PROT:P12883	MYH7	R	869	H	R869H	Likely pathogenic	1	5	196	3
MUT:MYH7:Arg869Pro	PROT:P12883	MYH7	R	869	P	R869P	Likely pathogenic	1	2	196	3
MUT:MYH7:Arg870Cys	PROT:P12883	MYH7	R	870	C	R870C	Likely pathogenic	1	5	196	4
MUT:MYH7:Arg870His	PROT:P12883	MYH7	R	870	H	R870H	Pathogenic	1	7	196	4
MUT:MYH7:Arg870Leu	PROT:P12883	MYH7	R	870	L	R870L	Pathogenic/Likely pathogenic	1	3	196	4
MUT:MYH7:Arg870Pro	PROT:P12883	MYH7	R	870	P	R870P	Likely pathogenic	1	1	196	4
MUT:MYH7:Arg904Cys	PROT:P12883	MYH7	R	904	C	R904C	Pathogenic	1	4	196	6
MUT:MYH7:Arg904His	PROT:P12883	MYH7	R	904	H	R904H	Pathogenic	1	5	196	6
MUT:MYH7:Arg904Leu	PROT:P12883	MYH7	R	904	L	R904L	Likely pathogenic	1	2	196	6
MUT:MYH7:Arg904Pro	PROT:P12883	MYH7	R	904	P	R904P	Pathogenic/Likely pathogenic	1	1	196	6
MUT:MYH7:Arg904Ser	PROT:P12883	MYH7	R	904	S	R904S	Likely pathogenic	1	1	196	6
MUT:MYH7:Arg925Gly	PROT:P12883	MYH7	R	925	G	R925G	Likely pathogenic	1	1	196	5
MUT:MYH7:Asn1257Ser	PROT:P12883	MYH7	N	1257	S	N1257S	Benign	0	5	196	4
MUT:MYH7:Asn1327Lys	PROT:P12883	MYH7	N	1327	K	N1327K	Likely benign	0	8	196	1
MUT:MYH7:Asn1918Lys	PROT:P12883	MYH7	N	1918	K	N1918K	Pathogenic	1	1	196	1
MUT:MYH7:Asn444Ser	PROT:P12883	MYH7	N	444	S	N444S	Pathogenic/Likely pathogenic	1	2	196	2
MUT:MYH7:Asn479Ser	PROT:P12883	MYH7	N	479	S	N479S	Pathogenic/Likely pathogenic	1	3	196	23
MUT:MYH7:Asn602Lys	PROT:P12883	MYH7	N	602	K	N602K	Likely pathogenic	1	1	196	2
MUT:MYH7:Asn602Ser	PROT:P12883	MYH7	N	602	S	N602S	Pathogenic/Likely pathogenic	1	1	196	2
MUT:MYH7:Asn696His	PROT:P12883	MYH7	N	696	H	N696H	Likely pathogenic	1	1	196	16
MUT:MYH7:Asn696Ser	PROT:P12883	MYH7	N	696	S	N696S	Pathogenic/Likely pathogenic	1	2	196	16
MUT:MYH7:Asn696Tyr	PROT:P12883	MYH7	N	696	Y	N696Y	Likely pathogenic	1	1	196	16
MUT:MYH7:Asp1096Tyr	PROT:P12883	MYH7	D	1096	Y	D1096Y	Likely benign	0	8	196	6
MUT:MYH7:Asp1208Gly	PROT:P12883	MYH7	D	1208	G	D1208G	Likely pathogenic	1	1	196	9
MUT:MYH7:Asp1208His	PROT:P12883	MYH7	D	1208	H	D1208H	Pathogenic	1	1	196	9
MUT:MYH7:Asp208Asn	PROT:P12883	MYH7	D	208	N	D208N	Likely benign	0	1	196	1
MUT:MYH7:Asp239Asn	PROT:P12883	MYH7	D	239	N	D239N	Likely pathogenic	1	4	196	4
MUT:MYH7:Asp382Asn	PROT:P12883	MYH7	D	382	N	D382N	Likely pathogenic	1	1	196	2
MUT:MYH7:Asp382Gly	PROT:P12883	MYH7	D	382	G	D382G	Pathogenic	1	1	196	2
MUT:MYH7:Asp394Glu	PROT:P12883	MYH7	D	394	E	D394E	Pathogenic/Likely pathogenic	1	2	196	2
MUT:MYH7:Asp587His	PROT:P12883	MYH7	D	587	H	D587H	Likely pathogenic	1	1	196	1
MUT:MYH7:Asp717Gly	PROT:P12883	MYH7	D	717	G	D717G	Pathogenic	1	1	196	2
MUT:MYH7:Asp717Val	PROT:P12883	MYH7	D	717	V	D717V	Likely pathogenic	1	1	196	2
MUT:MYH7:Asp778Glu	PROT:P12883	MYH7	D	778	E	D778E	Pathogenic	1	2	196	4
MUT:MYH7:Asp778Gly	PROT:P12883	MYH7	D	778	G	D778G	Pathogenic	1	2	196	4
MUT:MYH7:Asp778His	PROT:P12883	MYH7	D	778	H	D778H	Likely pathogenic	1	1	196	4
MUT:MYH7:Asp778Val	PROT:P12883	MYH7	D	778	V	D778V	Pathogenic/Likely pathogenic	1	2	196	4
MUT:MYH7:Asp896Asn	PROT:P12883	MYH7	D	896	N	D896N	Likely pathogenic	1	2	196	14
MUT:MYH7:Asp906Gly	PROT:P12883	MYH7	D	906	G	D906G	Pathogenic	1	4	196	4
MUT:MYH7:Asp928Asn	PROT:P12883	MYH7	D	928	N	D928N	Pathogenic/Likely pathogenic	1	1	196	8
MUT:MYH7:Asp928His	PROT:P12883	MYH7	D	928	H	D928H	Likely pathogenic	1	1	196	8
MUT:MYH7:Asp928Val	PROT:P12883	MYH7	D	928	V	D928V	Likely pathogenic	1	2	196	8
MUT:MYH7:Asp953His	PROT:P12883	MYH7	D	953	H	D953H	Likely pathogenic	1	1	196	2
MUT:MYH7:Cys520Phe	PROT:P12883	MYH7	C	520	F	C520F	Likely pathogenic	1	1	196	18
MUT:MYH7:Cys705Tyr	PROT:P12883	MYH7	C	705	Y	C705Y	Likely pathogenic	1	1	196	10
MUT:MYH7:Gln1598Leu	PROT:P12883	MYH7	Q	1598	L	Q1598L	Likely pathogenic	1	1	196	1
MUT:MYH7:Gln1598Pro	PROT:P12883	MYH7	Q	1598	P	Q1598P	Likely pathogenic	1	1	196	1
MUT:MYH7:Gln172Glu	PROT:P12883	MYH7	Q	172	E	Q172E	Likely pathogenic	1	1	196	5
MUT:MYH7:Gln1865Pro	PROT:P12883	MYH7	Q	1865	P	Q1865P	Pathogenic	1	1	196	6
MUT:MYH7:Gln734Glu	PROT:P12883	MYH7	Q	734	E	Q734E	Likely pathogenic	1	2	196	4
MUT:MYH7:Gln734Pro	PROT:P12883	MYH7	Q	734	P	Q734P	Likely pathogenic	1	1	196	4
MUT:MYH7:Gln882Glu	PROT:P12883	MYH7	Q	882	E	Q882E	Pathogenic/Likely pathogenic	1	3	196	3
MUT:MYH7:Glu1350Lys	PROT:P12883	MYH7	E	1350	K	E1350K	Pathogenic	1	1	196	1
MUT:MYH7:Glu1356Lys	PROT:P12883	MYH7	E	1356	K	E1356K	Pathogenic	1	3	196	2
MUT:MYH7:Glu1468Lys	PROT:P12883	MYH7	E	1468	K	E1468K	Pathogenic/Likely pathogenic	1	4	196	1
MUT:MYH7:Glu1496Lys	PROT:P12883	MYH7	E	1496	K	E1496K	Likely pathogenic	1	1	196	1
MUT:MYH7:Glu1555Gly	PROT:P12883	MYH7	E	1555	G	E1555G	Pathogenic	1	1	196	2
MUT:MYH7:Glu1752Lys	PROT:P12883	MYH7	E	1752	K	E1752K	Pathogenic/Likely pathogenic	1	1	196	5
MUT:MYH7:Glu1801Lys	PROT:P12883	MYH7	E	1801	K	E1801K	Likely pathogenic	1	6	196	10
MUT:MYH7:Glu1902Gln	PROT:P12883	MYH7	E	1902	Q	E1902Q	Likely benign	0	7	196	4
MUT:MYH7:Glu1914Lys	PROT:P12883	MYH7	E	1914	K	E1914K	Likely pathogenic	1	5	196	1
MUT:MYH7:Glu317Gly	PROT:P12883	MYH7	E	317	G	E317G	Likely pathogenic	1	1	196	39
MUT:MYH7:Glu328Gly	PROT:P12883	MYH7	E	328	G	E328G	Likely pathogenic	1	1	196	50
MUT:MYH7:Glu380Gly	PROT:P12883	MYH7	E	380	G	E380G	Likely pathogenic	1	1	196	2
MUT:MYH7:Glu483Lys	PROT:P12883	MYH7	E	483	K	E483K	Pathogenic/Likely pathogenic	1	4	196	19
MUT:MYH7:Glu497Asp	PROT:P12883	MYH7	E	497	D	E497D	Pathogenic/Likely pathogenic	1	5	196	5
MUT:MYH7:Glu525Lys	PROT:P12883	MYH7	E	525	K	E525K	Pathogenic/Likely pathogenic	1	4	196	23
MUT:MYH7:Glu535Gln	PROT:P12883	MYH7	E	535	Q	E535Q	Likely pathogenic	1	1	196	14
MUT:MYH7:Glu775Lys	PROT:P12883	MYH7	E	775	K	E775K	Likely pathogenic	1	1	196	7
MUT:MYH7:Glu846Lys	PROT:P12883	MYH7	E	846	K	E846K	Pathogenic/Likely pathogenic	1	1	196	1
MUT:MYH7:Glu848Gly	PROT:P12883	MYH7	E	848	G	E848G	Pathogenic/Likely pathogenic	1	2	196	1
MUT:MYH7:Glu894Gly	PROT:P12883	MYH7	E	894	G	E894G	Pathogenic	1	4	196	15
MUT:MYH7:Glu903Gln	PROT:P12883	MYH7	E	903	Q	E903Q	Pathogenic	1	1	196	7
MUT:MYH7:Glu903Lys	PROT:P12883	MYH7	E	903	K	E903K	Likely pathogenic	1	2	196	7
MUT:MYH7:Glu921Lys	PROT:P12883	MYH7	E	921	K	E921K	Pathogenic/Likely pathogenic	1	3	196	1
MUT:MYH7:Glu924Gly	PROT:P12883	MYH7	E	924	G	E924G	Likely pathogenic	1	1	196	4
MUT:MYH7:Glu924Lys	PROT:P12883	MYH7	E	924	K	E924K	Pathogenic/Likely pathogenic	1	5	196	4
MUT:MYH7:Glu927Lys	PROT:P12883	MYH7	E	927	K	E927K	Pathogenic/Likely pathogenic	1	2	196	7
MUT:MYH7:Glu930Gln	PROT:P12883	MYH7	E	930	Q	E930Q	Pathogenic/Likely pathogenic	1	8	196	7
MUT:MYH7:Glu930Lys	PROT:P12883	MYH7	E	930	K	E930K	Pathogenic	1	1	196	7
MUT:MYH7:Glu931Lys	PROT:P12883	MYH7	E	931	K	E931K	Pathogenic/Likely pathogenic	1	1	196	6
MUT:MYH7:Glu935Lys	PROT:P12883	MYH7	E	935	K	E935K	Pathogenic	1	2	196	2
MUT:MYH7:Glu949Lys	PROT:P12883	MYH7	E	949	K	E949K	Likely pathogenic	1	4	196	1
MUT:MYH7:Gly1057Ser	PROT:P12883	MYH7	G	1057	S	G1057S	Likely pathogenic	1	2	196	3
MUT:MYH7:Gly1204Ser	PROT:P12883	MYH7	G	1204	S	G1204S	Likely benign	0	1	196	5
MUT:MYH7:Gly256Glu	PROT:P12883	MYH7	G	256	E	G256E	Pathogenic	1	2	196	1
MUT:MYH7:Gly398Arg	PROT:P12883	MYH7	G	398	R	G398R	Likely pathogenic	1	1	196	6
MUT:MYH7:Gly407Arg	PROT:P12883	MYH7	G	407	R	G407R	Likely pathogenic	1	1	196	2
MUT:MYH7:Gly407Val	PROT:P12883	MYH7	G	407	V	G407V	Likely pathogenic	1	1	196	2
MUT:MYH7:Gly571Glu	PROT:P12883	MYH7	G	571	E	G571E	Likely pathogenic	1	1	196	11
MUT:MYH7:Gly584Arg	PROT:P12883	MYH7	G	584	R	G584R	Pathogenic	1	3	196	2
MUT:MYH7:Gly584Ser	PROT:P12883	MYH7	G	584	S	G584S	Pathogenic/Likely pathogenic	1	4	196	2
MUT:MYH7:Gly584Val	PROT:P12883	MYH7	G	584	V	G584V	Likely pathogenic	1	1	196	2
MUT:MYH7:Gly641Ala	PROT:P12883	MYH7	G	641	A	G641A	Pathogenic/Likely pathogenic	1	2	196	1
MUT:MYH7:Gly641Ser	PROT:P12883	MYH7	G	641	S	G641S	Likely pathogenic	1	1	196	1
MUT:MYH7:Gly708Ala	PROT:P12883	MYH7	G	708	A	G708A	Pathogenic/Likely pathogenic	1	1	196	7
MUT:MYH7:Gly716Arg	PROT:P12883	MYH7	G	716	R	G716R	Pathogenic	1	3	196	1
MUT:MYH7:Gly733Val	PROT:P12883	MYH7	G	733	V	G733V	Likely pathogenic	1	1	196	5
MUT:MYH7:Gly741Arg	PROT:P12883	MYH7	G	741	R	G741R	Pathogenic	1	4	196	1
MUT:MYH7:Gly741Glu	PROT:P12883	MYH7	G	741	E	G741E	Pathogenic/Likely pathogenic	1	1	196	1
MUT:MYH7:Gly741Trp	PROT:P12883	MYH7	G	741	W	G741W	Pathogenic	1	2	196	1
MUT:MYH7:Gly768Arg	PROT:P12883	MYH7	G	768	R	G768R	Pathogenic/Likely pathogenic	1	4	196	2
MUT:MYH7:His1901Leu	PROT:P12883	MYH7	H	1901	L	H1901L	Pathogenic	1	1	196	3
MUT:MYH7:His358Leu	PROT:P12883	MYH7	H	358	L	H358L	Pathogenic	1	1	196	20
MUT:MYH7:His576Arg	PROT:P12883	MYH7	H	576	R	H576R	Pathogenic/Likely pathogenic	1	3	196	6
MUT:MYH7:His666Gln	PROT:P12883	MYH7	H	666	Q	H666Q	Likely pathogenic	1	1	196	6
MUT:MYH7:Ile1572Met	PROT:P12883	MYH7	I	1572	M	I1572M	Likely benign	0	1	196	3
MUT:MYH7:Ile201Thr	PROT:P12883	MYH7	I	201	T	I201T	Pathogenic/Likely pathogenic	1	6	196	6
MUT:MYH7:Ile250Phe	PROT:P12883	MYH7	I	250	F	I250F	Pathogenic/Likely pathogenic	1	1	196	4
MUT:MYH7:Ile263Thr	PROT:P12883	MYH7	I	263	T	I263T	Pathogenic	1	3	196	3
MUT:MYH7:Ile285Thr	PROT:P12883	MYH7	I	285	T	I285T	Likely pathogenic	1	1	196	7
MUT:MYH7:Ile457Lys	PROT:P12883	MYH7	I	457	K	I457K	Likely pathogenic	1	1	196	7
MUT:MYH7:Ile457Thr	PROT:P12883	MYH7	I	457	T	I457T	Likely pathogenic	1	4	196	7
MUT:MYH7:Ile467Asn	PROT:P12883	MYH7	I	467	N	I467N	Pathogenic	1	1	196	17
MUT:MYH7:Ile511Leu	PROT:P12883	MYH7	I	511	L	I511L	Likely pathogenic	1	1	196	9
MUT:MYH7:Ile511Thr	PROT:P12883	MYH7	I	511	T	I511T	Pathogenic/Likely pathogenic	1	2	196	9
MUT:MYH7:Ile524Met	PROT:P12883	MYH7	I	524	M	I524M	Likely pathogenic	1	2	196	22
MUT:MYH7:Ile524Thr	PROT:P12883	MYH7	I	524	T	I524T	Pathogenic/Likely pathogenic	1	1	196	22
MUT:MYH7:Ile674Thr	PROT:P12883	MYH7	I	674	T	I674T	Likely pathogenic	1	1	196	4
MUT:MYH7:Ile702Asn	PROT:P12883	MYH7	I	702	N	I702N	Pathogenic/Likely pathogenic	1	2	196	13
MUT:MYH7:Ile702Val	PROT:P12883	MYH7	I	702	V	I702V	Pathogenic/Likely pathogenic	1	2	196	13
MUT:MYH7:Ile730Asn	PROT:P12883	MYH7	I	730	N	I730N	Likely pathogenic	1	1	196	8
MUT:MYH7:Ile730Thr	PROT:P12883	MYH7	I	730	T	I730T	Pathogenic/Likely pathogenic	1	1	196	8
MUT:MYH7:Ile736Thr	PROT:P12883	MYH7	I	736	T	I736T	Pathogenic	1	5	196	2
MUT:MYH7:Ile836Thr	PROT:P12883	MYH7	I	836	T	I836T	Likely pathogenic	1	1	196	5
MUT:MYH7:Ile913Thr	PROT:P12883	MYH7	I	913	T	I913T	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu1038Arg	PROT:P12883	MYH7	L	1038	R	L1038R	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu1038Pro	PROT:P12883	MYH7	L	1038	P	L1038P	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu1393Pro	PROT:P12883	MYH7	L	1393	P	L1393P	Likely pathogenic	1	1	196	10
MUT:MYH7:Leu1453Pro	PROT:P12883	MYH7	L	1453	P	L1453P	Pathogenic/Likely pathogenic	1	2	196	2
MUT:MYH7:Leu1481Pro	PROT:P12883	MYH7	L	1481	P	L1481P	Pathogenic	1	1	196	2
MUT:MYH7:Leu1533Pro	PROT:P12883	MYH7	L	1533	P	L1533P	Pathogenic	1	1	196	9
MUT:MYH7:Leu1597Pro	PROT:P12883	MYH7	L	1597	P	L1597P	Pathogenic	1	1	196	1
MUT:MYH7:Leu1612Pro	PROT:P12883	MYH7	L	1612	P	L1612P	Likely pathogenic	1	3	196	5
MUT:MYH7:Leu1646Pro	PROT:P12883	MYH7	L	1646	P	L1646P	Pathogenic	1	3	196	1
MUT:MYH7:Leu1667Pro	PROT:P12883	MYH7	L	1667	P	L1667P	Pathogenic/Likely pathogenic	1	2	196	19
MUT:MYH7:Leu1681Pro	PROT:P12883	MYH7	L	1681	P	L1681P	Likely pathogenic	1	1	196	29
MUT:MYH7:Leu1723Pro	PROT:P12883	MYH7	L	1723	P	L1723P	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu1793Pro	PROT:P12883	MYH7	L	1793	P	L1793P	Pathogenic/Likely pathogenic	1	4	196	2
MUT:MYH7:Leu1805Pro	PROT:P12883	MYH7	L	1805	P	L1805P	Likely pathogenic	1	1	196	14
MUT:MYH7:Leu1822Pro	PROT:P12883	MYH7	L	1822	P	L1822P	Likely pathogenic	1	1	196	26
MUT:MYH7:Leu267Val	PROT:P12883	MYH7	L	267	V	L267V	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu301Arg	PROT:P12883	MYH7	L	301	R	L301R	Likely pathogenic	1	1	196	23
MUT:MYH7:Leu387Phe	PROT:P12883	MYH7	L	387	F	L387F	Pathogenic	1	1	196	1
MUT:MYH7:Leu476Phe	PROT:P12883	MYH7	L	476	F	L476F	Likely pathogenic	1	1	196	26
MUT:MYH7:Leu517Met	PROT:P12883	MYH7	L	517	M	L517M	Likely pathogenic	1	1	196	15
MUT:MYH7:Leu601Phe	PROT:P12883	MYH7	L	601	F	L601F	Pathogenic	1	1	196	3
MUT:MYH7:Leu601Val	PROT:P12883	MYH7	L	601	V	L601V	Likely pathogenic	1	1	196	3
MUT:MYH7:Leu655Met	PROT:P12883	MYH7	L	655	M	L655M	Pathogenic	1	1	196	2
MUT:MYH7:Leu725Pro	PROT:P12883	MYH7	L	725	P	L725P	Likely pathogenic	1	1	196	10
MUT:MYH7:Leu749Gln	PROT:P12883	MYH7	L	749	Q	L749Q	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu804Pro	PROT:P12883	MYH7	L	804	P	L804P	Pathogenic	1	1	196	6
MUT:MYH7:Leu859Pro	PROT:P12883	MYH7	L	859	P	L859P	Likely pathogenic	1	1	196	1
MUT:MYH7:Leu873Pro	PROT:P12883	MYH7	L	873	P	L873P	Pathogenic/Likely pathogenic	1	1	196	3
MUT:MYH7:Leu881Arg	PROT:P12883	MYH7	L	881	R	L881R	Likely pathogenic	1	1	196	2
MUT:MYH7:Leu887Pro	PROT:P12883	MYH7	L	887	P	L887P	Likely pathogenic	1	1	196	8
MUT:MYH7:Leu898Pro	PROT:P12883	MYH7	L	898	P	L898P	Likely pathogenic	1	1	196	12
MUT:MYH7:Leu908Gln	PROT:P12883	MYH7	L	908	Q	L908Q	Likely pathogenic	1	1	196	2
MUT:MYH7:Leu908Met	PROT:P12883	MYH7	L	908	M	L908M	Likely pathogenic	1	1	196	2
MUT:MYH7:Leu908Val	PROT:P12883	MYH7	L	908	V	L908V	Pathogenic	1	4	196	2
MUT:MYH7:Leu915Pro	PROT:P12883	MYH7	L	915	P	L915P	Likely pathogenic	1	2	196	3
MUT:MYH7:Lys1459Asn	PROT:P12883	MYH7	K	1459	N	K1459N	Likely benign	0	8	196	0
MUT:MYH7:Lys146Asn	PROT:P12883	MYH7	K	146	N	K146N	Pathogenic/Likely pathogenic	1	2	196	16
MUT:MYH7:Lys1879Arg	PROT:P12883	MYH7	K	1879	R	K1879R	Likely pathogenic	1	1	196	12
MUT:MYH7:Lys351Glu	PROT:P12883	MYH7	K	351	E	K351E	Pathogenic/Likely pathogenic	1	1	196	27
MUT:MYH7:Lys351Thr	PROT:P12883	MYH7	K	351	T	K351T	Likely pathogenic	1	1	196	27
MUT:MYH7:Lys367Asn	PROT:P12883	MYH7	K	367	N	K367N	Likely pathogenic	1	1	196	11
MUT:MYH7:Lys450Asn	PROT:P12883	MYH7	K	450	N	K450N	Likely pathogenic	1	2	196	0
MUT:MYH7:Lys549Glu	PROT:P12883	MYH7	K	549	E	K549E	Likely pathogenic	1	1	196	0
MUT:MYH7:Lys611Asn	PROT:P12883	MYH7	K	611	N	K611N	Likely pathogenic	1	2	196	0
MUT:MYH7:Lys615Thr	PROT:P12883	MYH7	K	615	T	K615T	Likely pathogenic	1	1	196	4
MUT:MYH7:Lys657Gln	PROT:P12883	MYH7	K	657	Q	K657Q	Likely pathogenic	1	1	196	0
MUT:MYH7:Lys835Thr	PROT:P12883	MYH7	K	835	T	K835T	Likely pathogenic	1	1	196	6
MUT:MYH7:Lys847Glu	PROT:P12883	MYH7	K	847	E	K847E	Pathogenic	1	4	196	0
MUT:MYH7:Lys847Thr	PROT:P12883	MYH7	K	847	T	K847T	Likely pathogenic	1	1	196	0
MUT:MYH7:Lys865Arg	PROT:P12883	MYH7	K	865	R	K865R	Pathogenic/Likely pathogenic	1	4	196	0
MUT:MYH7:Lys865Glu	PROT:P12883	MYH7	K	865	E	K865E	Likely pathogenic	1	1	196	0
MUT:MYH7:Met165Ile	PROT:P12883	MYH7	M	165	I	M165I	Pathogenic	1	2	196	1
MUT:MYH7:Met165Thr	PROT:P12883	MYH7	M	165	T	M165T	Likely pathogenic	1	1	196	1
MUT:MYH7:Met362Leu	PROT:P12883	MYH7	M	362	L	M362L	Likely benign	0	1	196	16
MUT:MYH7:Met439Val	PROT:P12883	MYH7	M	439	V	M439V	Likely pathogenic	1	1	196	2
MUT:MYH7:Met493Arg	PROT:P12883	MYH7	M	493	R	M493R	Likely pathogenic	1	1	196	9
MUT:MYH7:Met493Val	PROT:P12883	MYH7	M	493	V	M493V	Pathogenic/Likely pathogenic	1	2	196	9
MUT:MYH7:Met515Arg	PROT:P12883	MYH7	M	515	R	M515R	Pathogenic	1	1	196	13
MUT:MYH7:Met515Thr	PROT:P12883	MYH7	M	515	T	M515T	Likely pathogenic	1	1	196	13
MUT:MYH7:Met528Lys	PROT:P12883	MYH7	M	528	K	M528K	Likely pathogenic	1	1	196	21
MUT:MYH7:Met539Leu	PROT:P12883	MYH7	M	539	L	M539L	Pathogenic/Likely pathogenic	1	2	196	10
MUT:MYH7:Met539Thr	PROT:P12883	MYH7	M	539	T	M539T	Likely pathogenic	1	1	196	10
MUT:MYH7:Met539Val	PROT:P12883	MYH7	M	539	V	M539V	Pathogenic/Likely pathogenic	1	1	196	10
MUT:MYH7:Met659Ile	PROT:P12883	MYH7	M	659	I	M659I	Likely pathogenic	1	2	196	1
MUT:MYH7:Met684Arg	PROT:P12883	MYH7	M	684	R	M684R	Pathogenic	1	1	196	4
MUT:MYH7:Met822Thr	PROT:P12883	MYH7	M	822	T	M822T	Likely pathogenic	1	1	196	12
MUT:MYH7:Met822Val	PROT:P12883	MYH7	M	822	V	M822V	Pathogenic/Likely pathogenic	1	1	196	12
MUT:MYH7:Met849Thr	PROT:P12883	MYH7	M	849	T	M849T	Likely pathogenic	1	2	196	2
MUT:MYH7:Met852Arg	PROT:P12883	MYH7	M	852	R	M852R	Likely pathogenic	1	1	196	1
MUT:MYH7:Met852Lys	PROT:P12883	MYH7	M	852	K	M852K	Likely pathogenic	1	1	196	1
MUT:MYH7:Met852Thr	PROT:P12883	MYH7	M	852	T	M852T	Pathogenic/Likely pathogenic	1	2	196	1
MUT:MYH7:Met877Ile	PROT:P12883	MYH7	M	877	I	M877I	Pathogenic/Likely pathogenic	1	4	196	1
MUT:MYH7:Met877Leu	PROT:P12883	MYH7	M	877	L	M877L	Likely pathogenic	1	2	196	1
MUT:MYH7:Met877Lys	PROT:P12883	MYH7	M	877	K	M877K	Likely pathogenic	1	1	196	1
MUT:MYH7:Met877Thr	PROT:P12883	MYH7	M	877	T	M877T	Likely pathogenic	1	1	196	1
MUT:MYH7:Met877Val	PROT:P12883	MYH7	M	877	V	M877V	Likely pathogenic	1	1	196	1
MUT:MYH7:Met982Thr	PROT:P12883	MYH7	M	982	T	M982T	Benign	0	9	196	3
MUT:MYH7:Phe247Cys	PROT:P12883	MYH7	F	247	C	F247C	Pathogenic/Likely pathogenic	1	1	196	1
MUT:MYH7:Phe247Leu	PROT:P12883	MYH7	F	247	L	F247L	Likely pathogenic	1	1	196	1
MUT:MYH7:Phe252Cys	PROT:P12883	MYH7	F	252	C	F252C	Likely pathogenic	1	2	196	3
MUT:MYH7:Phe252Ser	PROT:P12883	MYH7	F	252	S	F252S	Likely pathogenic	1	2	196	3
MUT:MYH7:Phe252Tyr	PROT:P12883	MYH7	F	252	Y	F252Y	Likely pathogenic	1	1	196	3
MUT:MYH7:Phe510Leu	PROT:P12883	MYH7	F	510	L	F510L	Pathogenic	1	2	196	8
MUT:MYH7:Phe513Cys	PROT:P12883	MYH7	F	513	C	F513C	Pathogenic	1	1	196	11
MUT:MYH7:Phe540Leu	PROT:P12883	MYH7	F	540	L	F540L	Pathogenic/Likely pathogenic	1	3	196	9
MUT:MYH7:Phe764Leu	PROT:P12883	MYH7	F	764	L	F764L	Pathogenic	1	2	196	2
MUT:MYH7:Phe764Tyr	PROT:P12883	MYH7	F	764	Y	F764Y	Likely pathogenic	1	1	196	2
MUT:MYH7:Pro600Ser	PROT:P12883	MYH7	P	600	S	P600S	Likely pathogenic	1	1	196	2
MUT:MYH7:Pro710Ala	PROT:P12883	MYH7	P	710	A	P710A	Likely pathogenic	1	1	196	5
MUT:MYH7:Pro710His	PROT:P12883	MYH7	P	710	H	P710H	Likely pathogenic	1	1	196	5
MUT:MYH7:Pro710Ser	PROT:P12883	MYH7	P	710	S	P710S	Likely pathogenic	1	1	196	5
MUT:MYH7:Pro731Arg	PROT:P12883	MYH7	P	731	R	P731R	Likely pathogenic	1	1	196	7
MUT:MYH7:Pro731Leu	PROT:P12883	MYH7	P	731	L	P731L	Likely pathogenic	1	1	196	7
MUT:MYH7:Pro731Ser	PROT:P12883	MYH7	P	731	S	P731S	Pathogenic/Likely pathogenic	1	2	196	7
MUT:MYH7:Pro731Thr	PROT:P12883	MYH7	P	731	T	P731T	Likely pathogenic	1	1	196	7
MUT:MYH7:Pro838Gln	PROT:P12883	MYH7	P	838	Q	P838Q	Likely pathogenic	1	1	196	3
MUT:MYH7:Pro838Leu	PROT:P12883	MYH7	P	838	L	P838L	Pathogenic	1	3	196	3
MUT:MYH7:Ser1199Arg	PROT:P12883	MYH7	S	1199	R	S1199R	Likely pathogenic	1	1	196	0
MUT:MYH7:Ser148Arg	PROT:P12883	MYH7	S	148	R	S148R	Likely pathogenic	1	1	196	14
MUT:MYH7:Ser148Ile	PROT:P12883	MYH7	S	148	I	S148I	Likely pathogenic	1	1	196	14
MUT:MYH7:Ser1491Cys	PROT:P12883	MYH7	S	1491	C	S1491C	Benign	0	4	196	3
MUT:MYH7:Ser1915Phe	PROT:P12883	MYH7	S	1915	F	S1915F	Likely pathogenic	1	1	196	0
MUT:MYH7:Ser384Tyr	PROT:P12883	MYH7	S	384	Y	S384Y	Pathogenic	1	1	196	0
MUT:MYH7:Ser392Leu	PROT:P12883	MYH7	S	392	L	S392L	Likely pathogenic	1	1	196	0
MUT:MYH7:Ser532Pro	PROT:P12883	MYH7	S	532	P	S532P	Pathogenic	1	4	196	17
MUT:MYH7:Ser782Arg	PROT:P12883	MYH7	S	782	R	S782R	Pathogenic/Likely pathogenic	1	2	196	0
MUT:MYH7:Ser782Asn	PROT:P12883	MYH7	S	782	N	S782N	Pathogenic/Likely pathogenic	1	1	196	0
MUT:MYH7:Ser842Asn	PROT:P12883	MYH7	S	842	N	S842N	Likely pathogenic	1	3	196	0
MUT:MYH7:Ser842Gly	PROT:P12883	MYH7	S	842	G	S842G	Likely pathogenic	1	2	196	0
MUT:MYH7:Thr1377Met	PROT:P12883	MYH7	T	1377	M	T1377M	Pathogenic	1	5	196	0
MUT:MYH7:Thr1599Pro	PROT:P12883	MYH7	T	1599	P	T1599P	Pathogenic	1	1	196	0
MUT:MYH7:Thr1760Arg	PROT:P12883	MYH7	T	1760	R	T1760R	Likely pathogenic	1	1	196	0
MUT:MYH7:Thr215Ile	PROT:P12883	MYH7	T	215	I	T215I	Likely pathogenic	1	1	196	0
MUT:MYH7:Thr318Pro	PROT:P12883	MYH7	T	318	P	T318P	Likely pathogenic	1	1	196	40
MUT:MYH7:Thr441Met	PROT:P12883	MYH7	T	441	M	T441M	Benign	0	4	196	0
MUT:MYH7:Thr660Asn	PROT:P12883	MYH7	T	660	N	T660N	Likely pathogenic	1	2	196	0
MUT:MYH7:Thr761Ile	PROT:P12883	MYH7	T	761	I	T761I	Likely pathogenic	1	1	196	1
MUT:MYH7:Trp816Cys	PROT:P12883	MYH7	W	816	C	W816C	Likely pathogenic	1	2	196	6
MUT:MYH7:Tyr283Asp	PROT:P12883	MYH7	Y	283	D	Y283D	Likely pathogenic	1	2	196	5
MUT:MYH7:Tyr350Asn	PROT:P12883	MYH7	Y	350	N	Y350N	Likely pathogenic	1	1	196	28
MUT:MYH7:Tyr386Cys	PROT:P12883	MYH7	Y	386	C	Y386C	Likely pathogenic	1	1	196	0
MUT:MYH7:Tyr422Asp	PROT:P12883	MYH7	Y	422	D	Y422D	Likely pathogenic	1	1	196	0
MUT:MYH7:Tyr609Cys	PROT:P12883	MYH7	Y	609	C	Y609C	Likely pathogenic	1	1	196	0
MUT:MYH7:Val1691Leu	PROT:P12883	MYH7	V	1691	L	V1691L	Likely benign	0	1	196	19
MUT:MYH7:Val320Glu	PROT:P12883	MYH7	V	320	E	V320E	Likely pathogenic	1	1	196	42
MUT:MYH7:Val320Met	PROT:P12883	MYH7	V	320	M	V320M	Pathogenic/Likely pathogenic	1	4	196	42
MUT:MYH7:Val338Met	PROT:P12883	MYH7	V	338	M	V338M	Likely pathogenic	1	2	196	40
MUT:MYH7:Val406Met	PROT:P12883	MYH7	V	406	M	V406M	Pathogenic/Likely pathogenic	1	2	196	1
MUT:MYH7:Val411Ile	PROT:P12883	MYH7	V	411	I	V411I	Pathogenic/Likely pathogenic	1	3	196	1
MUT:MYH7:Val440Met	PROT:P12883	MYH7	V	440	M	V440M	Likely pathogenic	1	1	196	1
MUT:MYH7:Val459Leu	PROT:P12883	MYH7	V	459	L	V459L	Likely pathogenic	1	1	196	9
MUT:MYH7:Val52Leu	PROT:P12883	MYH7	V	52	L	V52L	Likely benign	0	1	196	1
MUT:MYH7:Val606Met	PROT:P12883	MYH7	V	606	M	V606M	Pathogenic	1	9	196	2
MUT:MYH7:Val698Leu	PROT:P12883	MYH7	V	698	L	V698L	Likely pathogenic	1	1	196	17
MUT:MYH7:Val698Met	PROT:P12883	MYH7	V	698	M	V698M	Pathogenic/Likely pathogenic	1	1	196	17
MUT:MYH7B:Ala1892Val	PROT:A7E2Y1	MYH7B	A	1892	V	A1892V	Benign	0	5	7	83
MUT:MYH7B:Arg1472Gln	PROT:A7E2Y1	MYH7B	R	1472	Q	R1472Q	Likely pathogenic	1	1	7	40
MUT:MYH7B:Arg408Cys	PROT:A7E2Y1	MYH7B	R	408	C	R408C	Likely benign	0	1	7	47
MUT:MYH7B:Arg784His	PROT:A7E2Y1	MYH7B	R	784	H	R784H	Likely benign	0	1	7	329
MUT:MYH7B:Arg802Cys	PROT:A7E2Y1	MYH7B	R	802	C	R802C	Benign	0	1	7	347
MUT:MYH7B:Arg998Trp	PROT:A7E2Y1	MYH7B	R	998	W	R998W	Benign	0	1	7	313
MUT:MYH7B:Asp907His	PROT:A7E2Y1	MYH7B	D	907	H	D907H	Likely pathogenic	1	1	7	404
MUT:MYH7B:Glu1779Gln	PROT:A7E2Y1	MYH7B	E	1779	Q	E1779Q	Likely pathogenic	1	1	7	30
MUT:MYH7B:Glu330Gly	PROT:A7E2Y1	MYH7B	E	330	G	E330G	Likely benign	0	1	7	15
MUT:MYH7B:Gly1170Asp	PROT:A7E2Y1	MYH7B	G	1170	D	G1170D	Likely benign	0	1	7	141
MUT:MYH7B:Lys1510Asn	PROT:A7E2Y1	MYH7B	K	1510	N	K1510N	Benign	0	1	7	78
MUT:MYH7B:Lys1624Met	PROT:A7E2Y1	MYH7B	K	1624	M	K1624M	Likely benign	0	1	7	185
MUT:MYH7B:Lys1791Thr	PROT:A7E2Y1	MYH7B	K	1791	T	K1791T	Benign	0	1	7	18
MUT:MYH7B:Lys1839Gln	PROT:A7E2Y1	MYH7B	K	1839	Q	K1839Q	Benign	0	1	7	30
MUT:MYH7B:Lys66Asn	PROT:A7E2Y1	MYH7B	K	66	N	K66N	Likely benign	0	1	7	20
MUT:MYH7B:Phe459Tyr	PROT:A7E2Y1	MYH7B	F	459	Y	F459Y	Benign	0	1	7	4
MUT:MYH7B:Phe613Leu	PROT:A7E2Y1	MYH7B	F	613	L	F613L	Likely pathogenic	1	1	7	158
MUT:MYH7B:Ser1686Thr	PROT:A7E2Y1	MYH7B	S	1686	T	S1686T	Benign	0	1	7	123
MUT:MYH7B:Val996Met	PROT:A7E2Y1	MYH7B	V	996	M	V996M	Likely pathogenic	1	1	7	315
MUT:MYH8:Ala144Pro	PROT:P13535	MYH8	A	144	P	A144P	Benign/Likely benign	0	1	55	53
MUT:MYH8:Ala636Val	PROT:P13535	MYH8	A	636	V	A636V	Benign	0	1	55	27
MUT:MYH8:Arg1253Cys	PROT:P13535	MYH8	R	1253	C	R1253C	Benign/Likely benign	0	1	55	24
MUT:MYH8:Arg674Gln	PROT:P13535	MYH8	R	674	Q	R674Q	Pathogenic	1	2	55	11
MUT:MYH8:Arg706His	PROT:P13535	MYH8	R	706	H	R706H	Likely benign	0	2	55	25
MUT:MYH8:Arg75Ser	PROT:P13535	MYH8	R	75	S	R75S	Benign	0	2	55	2
MUT:MYH8:Asn605Lys	PROT:P13535	MYH8	N	605	K	N605K	Benign/Likely benign	0	1	55	14
MUT:MYH8:Glu1838Ala	PROT:P13535	MYH8	E	1838	A	E1838A	Benign/Likely benign	0	2	55	16
MUT:MYH8:Glu577Asp	PROT:P13535	MYH8	E	577	D	E577D	Benign/Likely benign	0	1	55	14
MUT:MYH8:Lys1812Arg	PROT:P13535	MYH8	K	1812	R	K1812R	Likely benign	0	1	55	42
MUT:MYH8:Met1229Thr	PROT:P13535	MYH8	M	1229	T	M1229T	Benign/Likely benign	0	2	55	7
MUT:MYH8:Thr1500Met	PROT:P13535	MYH8	T	1500	M	T1500M	Benign/Likely benign	0	1	55	13
MUT:MYH8:Trp1692Arg	PROT:P13535	MYH8	W	1692	R	W1692R	Benign	0	1	55	9
MUT:MYH8:Val1822Ile	PROT:P13535	MYH8	V	1822	I	V1822I	Benign/Likely benign	0	2	55	32
MUT:MYL2:Ala55Pro	PROT:P10916	MYL2	A	55	P	A55P	Likely pathogenic	1	1	10	7
MUT:MYL2:Arg58Gln	PROT:P10916	MYL2	R	58	Q	R58Q	Pathogenic	1	4	10	4
MUT:MYL2:Arg58Leu	PROT:P10916	MYL2	R	58	L	R58L	Likely pathogenic	1	1	10	4
MUT:MYL2:Asp166Val	PROT:P10916	MYL2	D	166	V	D166V	Pathogenic/Likely pathogenic	1	1	10	1
MUT:MYL2:Glu22Lys	PROT:P10916	MYL2	E	22	K	E22K	Pathogenic/Likely pathogenic	1	6	10	2
MUT:MYL2:Gly162Glu	PROT:P10916	MYL2	G	162	E	G162E	Likely pathogenic	1	3	10	3
MUT:MYL2:His161Arg	PROT:P10916	MYL2	H	161	R	H161R	Likely pathogenic	1	1	10	4
MUT:MYL2:Ile158Thr	PROT:P10916	MYL2	I	158	T	I158T	Pathogenic	1	1	10	7
MUT:MYL2:Phe18Leu	PROT:P10916	MYL2	F	18	L	F18L	Pathogenic/Likely pathogenic	1	3	10	1
MUT:MYL2:Thr80Asn	PROT:P10916	MYL2	T	80	N	T80N	Pathogenic/Likely pathogenic	1	3	10	0
MUT:MYO18A:Arg1257Gln	PROT:Q92614	MYO18A	R	1257	Q	R1257Q	Likely benign	0	1	54	52
MUT:MYO18A:Arg1736His	PROT:Q92614	MYO18A	R	1736	H	R1736H	Likely benign	0	1	54	96
MUT:MYO18A:Gly324Ser	PROT:Q92614	MYO18A	G	324	S	G324S	Likely benign	0	1	54	11
MUT:MYO18B:Ala1549Ser	PROT:Q8IUG5	MYO18B	A	1549	S	A1549S	Likely benign	0	1	21	112
MUT:MYO18B:Ala960Val	PROT:Q8IUG5	MYO18B	A	960	V	A960V	Likely benign	0	2	21	108
MUT:MYO18B:Arg1416Gln	PROT:Q8IUG5	MYO18B	R	1416	Q	R1416Q	Benign	0	1	21	21
MUT:MYO18B:Arg1727Gln	PROT:Q8IUG5	MYO18B	R	1727	Q	R1727Q	Benign	0	1	21	290
MUT:MYO18B:Arg2027Cys	PROT:Q8IUG5	MYO18B	R	2027	C	R2027C	Benign	0	1	21	63
MUT:MYO18B:Arg2076Trp	PROT:Q8IUG5	MYO18B	R	2076	W	R2076W	Likely benign	0	1	21	14
MUT:MYO18B:Arg2178Trp	PROT:Q8IUG5	MYO18B	R	2178	W	R2178W	Likely benign	0	1	21	15
MUT:MYO18B:Arg2231Gln	PROT:Q8IUG5	MYO18B	R	2231	Q	R2231Q	Likely benign	0	1	21	5
MUT:MYO18B:Arg324Ser	PROT:Q8IUG5	MYO18B	R	324	S	R324S	Benign	0	2	21	68
MUT:MYO18B:Asn2234Asp	PROT:Q8IUG5	MYO18B	N	2234	D	N2234D	Likely benign	0	1	21	2
MUT:MYO18B:Asp103Glu	PROT:Q8IUG5	MYO18B	D	103	E	D103E	Likely benign	0	1	21	33
MUT:MYO18B:Asp1097Glu	PROT:Q8IUG5	MYO18B	D	1097	E	D1097E	Likely benign	0	1	21	29
MUT:MYO18B:Asp2164Glu	PROT:Q8IUG5	MYO18B	D	2164	E	D2164E	Likely benign	0	1	21	29
MUT:MYO18B:Asp2432Asn	PROT:Q8IUG5	MYO18B	D	2432	N	D2432N	Likely benign	0	1	21	21
MUT:MYO18B:Gln2347Arg	PROT:Q8IUG5	MYO18B	Q	2347	R	Q2347R	Benign	0	1	21	3
MUT:MYO18B:Gly2267Ala	PROT:Q8IUG5	MYO18B	G	2267	A	G2267A	Likely benign	0	1	21	20
MUT:MYO18B:Gly246Trp	PROT:Q8IUG5	MYO18B	G	246	W	G246W	Likely benign	0	1	21	44
MUT:MYO18B:Gly2513Ser	PROT:Q8IUG5	MYO18B	G	2513	S	G2513S	Benign	0	6	21	18
MUT:MYO18B:Gly44Glu	PROT:Q8IUG5	MYO18B	G	44	E	G44E	Benign	0	1	21	92
MUT:MYO18B:His1119Gln	PROT:Q8IUG5	MYO18B	H	1119	Q	H1119Q	Benign	0	1	21	51
MUT:MYO18B:Ile3Met	PROT:Q8IUG5	MYO18B	I	3	M	I3M	Benign	0	1	21	133
MUT:MYO18B:Lys957Glu	PROT:Q8IUG5	MYO18B	K	957	E	K957E	Benign/Likely benign	0	2	21	111
MUT:MYO18B:Met2111Ile	PROT:Q8IUG5	MYO18B	M	2111	I	M2111I	Likely benign	0	1	21	21
MUT:MYO18B:Met2140Val	PROT:Q8IUG5	MYO18B	M	2140	V	M2140V	Likely benign	0	1	21	50
MUT:MYO18B:Pro177Leu	PROT:Q8IUG5	MYO18B	P	177	L	P177L	Benign	0	1	21	25
MUT:MYO18B:Ser1656Leu	PROT:Q8IUG5	MYO18B	S	1656	L	S1656L	Likely benign	0	1	21	219
MUT:MYO18B:Ser25Leu	PROT:Q8IUG5	MYO18B	S	25	L	S25L	Benign	0	1	21	111
MUT:MYO18B:Ser705Phe	PROT:Q8IUG5	MYO18B	S	705	F	S705F	Likely benign	0	1	21	115
MUT:MYO18B:Thr553Ser	PROT:Q8IUG5	MYO18B	T	553	S	T553S	Likely benign	0	1	21	37
MUT:MYO18B:Thr604Ala	PROT:Q8IUG5	MYO18B	T	604	A	T604A	Likely benign	0	1	21	14
MUT:MYO18B:Trp2128Arg	PROT:Q8IUG5	MYO18B	W	2128	R	W2128R	Likely benign	0	1	21	38
MUT:MYO18B:Trp547Cys	PROT:Q8IUG5	MYO18B	W	547	C	W547C	Benign	0	1	21	43
MUT:MYO18B:Trp661Arg	PROT:Q8IUG5	MYO18B	W	661	R	W661R	Benign	0	1	21	71
MUT:MYO1A:Ala79Ser	PROT:Q9UBC5	MYO1A	A	79	S	A79S	Benign	0	2	4	14
MUT:MYO1A:Arg220Gln	PROT:Q9UBC5	MYO1A	R	220	Q	R220Q	Likely benign	0	1	4	155
MUT:MYO1A:Arg628Gly	PROT:Q9UBC5	MYO1A	R	628	G	R628G	Likely benign	0	2	4	31
MUT:MYO1A:Arg985Gln	PROT:Q9UBC5	MYO1A	R	985	Q	R985Q	Likely benign	0	1	4	50
MUT:MYO1A:Asp240Asn	PROT:Q9UBC5	MYO1A	D	240	N	D240N	Likely pathogenic	1	2	4	175
MUT:MYO1A:Gly662Glu	PROT:Q9UBC5	MYO1A	G	662	E	G662E	Benign	0	1	4	3
MUT:MYO1A:Gly674Asp	PROT:Q9UBC5	MYO1A	G	674	D	G674D	Likely benign	0	2	4	6
MUT:MYO1A:Val306Met	PROT:Q9UBC5	MYO1A	V	306	M	V306M	Benign/Likely benign	0	1	4	241
MUT:MYO1C:Arg131Cys	PROT:O00159	MYO1C	R	131	C	R131C	Likely benign	0	1	44	8
MUT:MYO1C:Arg751Trp	PROT:O00159	MYO1C	R	751	W	R751W	Likely benign	0	1	44	15
MUT:MYO1C:Asp593Glu	PROT:O00159	MYO1C	D	593	E	D593E	Likely benign	0	2	44	22
MUT:MYO1C:Gln785Lys	PROT:O00159	MYO1C	Q	785	K	Q785K	Likely benign	0	1	44	49
MUT:MYO1C:Ile450Val	PROT:O00159	MYO1C	I	450	V	I450V	Benign	0	1	44	35
MUT:MYO1C:Val107Ile	PROT:O00159	MYO1C	V	107	I	V107I	Likely benign	0	1	44	28
MUT:MYO1C:Val287Ile	PROT:O00159	MYO1C	V	287	I	V287I	Likely benign	0	7	44	2
MUT:MYO1F:Arg1027Gln	PROT:O00160	MYO1F	R	1027	Q	R1027Q	Likely benign	0	1	18	4
MUT:MYO1F:Arg432Cys	PROT:O00160	MYO1F	R	432	C	R432C	Likely benign	0	1	18	77
MUT:MYO1F:Asp569Asn	PROT:O00160	MYO1F	D	569	N	D569N	Likely benign	0	1	18	34
MUT:MYO1F:Val1024Met	PROT:O00160	MYO1F	V	1024	M	V1024M	Likely benign	0	1	18	1
MUT:MYO5C:Lys1262Asn	PROT:Q9NQX4	MYO5C	K	1262	N	K1262N	Benign	0	2	9	85
MUT:MYO6:Ala342Val	PROT:Q9UM54	MYO6	A	342	V	A342V	Benign	0	4	13	35
MUT:MYO6:Arg1204Trp	PROT:Q9UM54	MYO6	R	1204	W	R1204W	Pathogenic/Likely pathogenic	1	2	13	313
MUT:MYO6:Arg946Cys	PROT:Q9UM54	MYO6	R	946	C	R946C	Benign	0	4	13	55
MUT:MYO6:Asp179Tyr	PROT:Q9UM54	MYO6	D	179	Y	D179Y	Likely pathogenic	1	1	13	57
MUT:MYO6:Cys442Tyr	PROT:Q9UM54	MYO6	C	442	Y	C442Y	Pathogenic	1	1	13	37
MUT:MYO6:Glu159Lys	PROT:Q9UM54	MYO6	E	159	K	E159K	Benign	0	4	13	37
MUT:MYO6:Glu299Asp	PROT:Q9UM54	MYO6	E	299	D	E299D	Likely pathogenic	1	2	13	8
MUT:MYO6:Glu461Asp	PROT:Q9UM54	MYO6	E	461	D	E461D	Likely pathogenic	1	1	13	56
MUT:MYO6:His246Arg	PROT:Q9UM54	MYO6	H	246	R	H246R	Pathogenic/Likely pathogenic	1	2	13	20
MUT:MYO6:Ile31Thr	PROT:Q9UM54	MYO6	I	31	T	I31T	Likely benign	0	1	13	51
MUT:MYO6:Leu926Gln	PROT:Q9UM54	MYO6	L	926	Q	L926Q	Likely pathogenic	1	1	13	35
MUT:MYO6:Tyr374His	PROT:Q9UM54	MYO6	Y	374	H	Y374H	Benign/Likely benign	0	2	13	28
MUT:MYO7A:Ala1288Asp	PROT:Q13402	MYO7A	A	1288	D	A1288D	Likely pathogenic	1	1	6	192
MUT:MYO7A:Ala1288Pro	PROT:Q13402	MYO7A	A	1288	P	A1288P	Likely pathogenic	1	6	6	192
MUT:MYO7A:Ala1340Pro	PROT:Q13402	MYO7A	A	1340	P	A1340P	Likely pathogenic	1	1	6	140
MUT:MYO7A:Ala1363Thr	PROT:Q13402	MYO7A	A	1363	T	A1363T	Likely pathogenic	1	1	6	117
MUT:MYO7A:Ala2009Thr	PROT:Q13402	MYO7A	A	2009	T	A2009T	Likely pathogenic	1	1	6	127
MUT:MYO7A:Ala230Val	PROT:Q13402	MYO7A	A	230	V	A230V	Pathogenic/Likely pathogenic	1	4	6	9
MUT:MYO7A:Ala26Glu	PROT:Q13402	MYO7A	A	26	E	A26E	Pathogenic/Likely pathogenic	1	2	6	213
MUT:MYO7A:Ala282Asp	PROT:Q13402	MYO7A	A	282	D	A282D	Likely pathogenic	1	1	6	43
MUT:MYO7A:Ala397Asp	PROT:Q13402	MYO7A	A	397	D	A397D	Pathogenic/Likely pathogenic	1	3	6	158
MUT:MYO7A:Ala397Thr	PROT:Q13402	MYO7A	A	397	T	A397T	Pathogenic/Likely pathogenic	1	2	6	158
MUT:MYO7A:Ala457Val	PROT:Q13402	MYO7A	A	457	V	A457V	Likely pathogenic	1	2	6	218
MUT:MYO7A:Ala893Asp	PROT:Q13402	MYO7A	A	893	D	A893D	Likely pathogenic	1	1	6	52
MUT:MYO7A:Arg1168Gln	PROT:Q13402	MYO7A	R	1168	Q	R1168Q	Pathogenic	1	4	6	223
MUT:MYO7A:Arg1240Gln	PROT:Q13402	MYO7A	R	1240	Q	R1240Q	Pathogenic	1	6	6	240
MUT:MYO7A:Arg1240Trp	PROT:Q13402	MYO7A	R	1240	W	R1240W	Pathogenic/Likely pathogenic	1	4	6	240
MUT:MYO7A:Arg1602Gln	PROT:Q13402	MYO7A	R	1602	Q	R1602Q	Benign/Likely benign	0	4	6	119
MUT:MYO7A:Arg1873Gln	PROT:Q13402	MYO7A	R	1873	Q	R1873Q	Pathogenic	1	4	6	263
MUT:MYO7A:Arg1873Leu	PROT:Q13402	MYO7A	R	1873	L	R1873L	Likely pathogenic	1	1	6	263
MUT:MYO7A:Arg1873Trp	PROT:Q13402	MYO7A	R	1873	W	R1873W	Pathogenic/Likely pathogenic	1	4	6	263
MUT:MYO7A:Arg1883Gln	PROT:Q13402	MYO7A	R	1883	Q	R1883Q	Pathogenic/Likely pathogenic	1	7	6	253
MUT:MYO7A:Arg1883Trp	PROT:Q13402	MYO7A	R	1883	W	R1883W	Pathogenic/Likely pathogenic	1	3	6	253
MUT:MYO7A:Arg2024Pro	PROT:Q13402	MYO7A	R	2024	P	R2024P	Pathogenic/Likely pathogenic	1	1	6	112
MUT:MYO7A:Arg212Cys	PROT:Q13402	MYO7A	R	212	C	R212C	Pathogenic/Likely pathogenic	1	2	6	27
MUT:MYO7A:Arg212His	PROT:Q13402	MYO7A	R	212	H	R212H	Pathogenic/Likely pathogenic	1	5	6	27
MUT:MYO7A:Arg241Cys	PROT:Q13402	MYO7A	R	241	C	R241C	Pathogenic	1	3	6	2
MUT:MYO7A:Arg241His	PROT:Q13402	MYO7A	R	241	H	R241H	Pathogenic/Likely pathogenic	1	5	6	2
MUT:MYO7A:Arg244Cys	PROT:Q13402	MYO7A	R	244	C	R244C	Likely pathogenic	1	2	6	5
MUT:MYO7A:Arg244Pro	PROT:Q13402	MYO7A	R	244	P	R244P	Pathogenic	1	2	6	5
MUT:MYO7A:Arg302His	PROT:Q13402	MYO7A	R	302	H	R302H	Likely benign	0	6	6	63
MUT:MYO7A:Arg336His	PROT:Q13402	MYO7A	R	336	H	R336H	Likely benign	0	7	6	97
MUT:MYO7A:Arg373Gly	PROT:Q13402	MYO7A	R	373	G	R373G	Likely pathogenic	1	1	6	134
MUT:MYO7A:Arg395Cys	PROT:Q13402	MYO7A	R	395	C	R395C	Likely pathogenic	1	3	6	156
MUT:MYO7A:Arg395His	PROT:Q13402	MYO7A	R	395	H	R395H	Pathogenic/Likely pathogenic	1	3	6	156
MUT:MYO7A:Arg657Trp	PROT:Q13402	MYO7A	R	657	W	R657W	Pathogenic/Likely pathogenic	1	2	6	288
MUT:MYO7A:Arg666Pro	PROT:Q13402	MYO7A	R	666	P	R666P	Pathogenic	1	1	6	279
MUT:MYO7A:Arg668Cys	PROT:Q13402	MYO7A	R	668	C	R668C	Pathogenic	1	3	6	277
MUT:MYO7A:Arg668His	PROT:Q13402	MYO7A	R	668	H	R668H	Pathogenic/Likely pathogenic	1	2	6	277
MUT:MYO7A:Arg83Ser	PROT:Q13402	MYO7A	R	83	S	R83S	Likely pathogenic	1	4	6	156
MUT:MYO7A:Arg853Cys	PROT:Q13402	MYO7A	R	853	C	R853C	Pathogenic/Likely pathogenic	1	1	6	92
MUT:MYO7A:Arg853His	PROT:Q13402	MYO7A	R	853	H	R853H	Likely pathogenic	1	4	6	92
MUT:MYO7A:Arg921Trp	PROT:Q13402	MYO7A	R	921	W	R921W	Likely benign	0	1	6	24
MUT:MYO7A:Arg974Trp	PROT:Q13402	MYO7A	R	974	W	R974W	Likely benign	0	1	6	29
MUT:MYO7A:Asn1182Lys	PROT:Q13402	MYO7A	N	1182	K	N1182K	Likely pathogenic	1	2	6	237
MUT:MYO7A:Asn207Ser	PROT:Q13402	MYO7A	N	207	S	N207S	Pathogenic	1	1	6	32
MUT:MYO7A:Asn458Asp	PROT:Q13402	MYO7A	N	458	D	N458D	Likely pathogenic	1	1	6	219
MUT:MYO7A:Asn458Ile	PROT:Q13402	MYO7A	N	458	I	N458I	Pathogenic	1	1	6	219
MUT:MYO7A:Asp2010Asn	PROT:Q13402	MYO7A	D	2010	N	D2010N	Pathogenic/Likely pathogenic	1	1	6	126
MUT:MYO7A:Asp2010Gly	PROT:Q13402	MYO7A	D	2010	G	D2010G	Likely pathogenic	1	2	6	126
MUT:MYO7A:Asp2010Tyr	PROT:Q13402	MYO7A	D	2010	Y	D2010Y	Likely pathogenic	1	1	6	126
MUT:MYO7A:Asp2142Asn	PROT:Q13402	MYO7A	D	2142	N	D2142N	Benign/Likely benign	0	4	6	3
MUT:MYO7A:Asp218Asn	PROT:Q13402	MYO7A	D	218	N	D218N	Pathogenic/Likely pathogenic	1	3	6	21
MUT:MYO7A:Asp511Asn	PROT:Q13402	MYO7A	D	511	N	D511N	Likely pathogenic	1	1	6	272
MUT:MYO7A:Asp746Asn	PROT:Q13402	MYO7A	D	746	N	D746N	Benign/Likely benign	0	4	6	199
MUT:MYO7A:Cys153Tyr	PROT:Q13402	MYO7A	C	153	Y	C153Y	Likely pathogenic	1	1	6	86
MUT:MYO7A:Cys652Arg	PROT:Q13402	MYO7A	C	652	R	C652R	Pathogenic/Likely pathogenic	1	1	6	293
MUT:MYO7A:Gln1178Pro	PROT:Q13402	MYO7A	Q	1178	P	Q1178P	Likely pathogenic	1	1	6	233
MUT:MYO7A:Gln462Pro	PROT:Q13402	MYO7A	Q	462	P	Q462P	Pathogenic/Likely pathogenic	1	1	6	223
MUT:MYO7A:Gln698Arg	PROT:Q13402	MYO7A	Q	698	R	Q698R	Likely pathogenic	1	1	6	247
MUT:MYO7A:Gln815Arg	PROT:Q13402	MYO7A	Q	815	R	Q815R	Likely benign	0	1	6	130
MUT:MYO7A:Gln819Glu	PROT:Q13402	MYO7A	Q	819	E	Q819E	Likely benign	0	1	6	126
MUT:MYO7A:Glu1170Lys	PROT:Q13402	MYO7A	E	1170	K	E1170K	Pathogenic	1	7	6	225
MUT:MYO7A:Glu1327Lys	PROT:Q13402	MYO7A	E	1327	K	E1327K	Pathogenic/Likely pathogenic	1	4	6	153
MUT:MYO7A:Glu1510Lys	PROT:Q13402	MYO7A	E	1510	K	E1510K	Likely pathogenic	1	1	6	27
MUT:MYO7A:Glu1812Lys	PROT:Q13402	MYO7A	E	1812	K	E1812K	Pathogenic/Likely pathogenic	1	3	6	324
MUT:MYO7A:Glu442Lys	PROT:Q13402	MYO7A	E	442	K	E442K	Pathogenic/Likely pathogenic	1	1	6	203
MUT:MYO7A:Glu450Val	PROT:Q13402	MYO7A	E	450	V	E450V	Likely pathogenic	1	1	6	211
MUT:MYO7A:Glu513Gln	PROT:Q13402	MYO7A	E	513	Q	E513Q	Likely pathogenic	1	1	6	274
MUT:MYO7A:Glu513Val	PROT:Q13402	MYO7A	E	513	V	E513V	Likely pathogenic	1	1	6	274
MUT:MYO7A:Glu968Asp	PROT:Q13402	MYO7A	E	968	D	E968D	Likely pathogenic	1	4	6	23
MUT:MYO7A:Gly1159Val	PROT:Q13402	MYO7A	G	1159	V	G1159V	Pathogenic/Likely pathogenic	1	8	6	214
MUT:MYO7A:Gly1218Arg	PROT:Q13402	MYO7A	G	1218	R	G1218R	Pathogenic/Likely pathogenic	1	3	6	262
MUT:MYO7A:Gly1298Arg	PROT:Q13402	MYO7A	G	1298	R	G1298R	Pathogenic/Likely pathogenic	1	5	6	182
MUT:MYO7A:Gly1497Arg	PROT:Q13402	MYO7A	G	1497	R	G1497R	Pathogenic/Likely pathogenic	1	4	6	14
MUT:MYO7A:Gly163Arg	PROT:Q13402	MYO7A	G	163	R	G163R	Pathogenic/Likely pathogenic	1	4	6	76
MUT:MYO7A:Gly1651Ser	PROT:Q13402	MYO7A	G	1651	S	G1651S	Pathogenic/Likely pathogenic	1	3	6	168
MUT:MYO7A:Gly1982Arg	PROT:Q13402	MYO7A	G	1982	R	G1982R	Pathogenic/Likely pathogenic	1	3	6	154
MUT:MYO7A:Gly1982Glu	PROT:Q13402	MYO7A	G	1982	E	G1982E	Likely pathogenic	1	1	6	154
MUT:MYO7A:Gly2038Glu	PROT:Q13402	MYO7A	G	2038	E	G2038E	Likely pathogenic	1	1	6	98
MUT:MYO7A:Gly2137Arg	PROT:Q13402	MYO7A	G	2137	R	G2137R	Likely pathogenic	1	2	6	1
MUT:MYO7A:Gly214Arg	PROT:Q13402	MYO7A	G	214	R	G214R	Pathogenic/Likely pathogenic	1	6	6	25
MUT:MYO7A:Gly2163Ser	PROT:Q13402	MYO7A	G	2163	S	G2163S	Pathogenic/Likely pathogenic	1	5	6	24
MUT:MYO7A:Gly2187Asp	PROT:Q13402	MYO7A	G	2187	D	G2187D	Likely pathogenic	1	2	6	48
MUT:MYO7A:Gly2214Ser	PROT:Q13402	MYO7A	G	2214	S	G2214S	Benign/Likely benign	0	5	6	75
MUT:MYO7A:Gly25Arg	PROT:Q13402	MYO7A	G	25	R	G25R	Pathogenic	1	4	6	214
MUT:MYO7A:Gly404Glu	PROT:Q13402	MYO7A	G	404	E	G404E	Likely pathogenic	1	1	6	165
MUT:MYO7A:Gly519Arg	PROT:Q13402	MYO7A	G	519	R	G519R	Likely pathogenic	1	1	6	280
MUT:MYO7A:Gly519Asp	PROT:Q13402	MYO7A	G	519	D	G519D	Pathogenic/Likely pathogenic	1	5	6	280
MUT:MYO7A:Gly556Val	PROT:Q13402	MYO7A	G	556	V	G556V	Likely pathogenic	1	1	6	317
MUT:MYO7A:Gly722Arg	PROT:Q13402	MYO7A	G	722	R	G722R	Pathogenic/Likely pathogenic	1	1	6	223
MUT:MYO7A:Gly7Val	PROT:Q13402	MYO7A	G	7	V	G7V	Pathogenic/Likely pathogenic	1	4	6	232
MUT:MYO7A:Gly955Ser	PROT:Q13402	MYO7A	G	955	S	G955S	Pathogenic/Likely pathogenic	1	2	6	10
MUT:MYO7A:His133Asn	PROT:Q13402	MYO7A	H	133	N	H133N	Likely pathogenic	1	4	6	106
MUT:MYO7A:His133Tyr	PROT:Q13402	MYO7A	H	133	Y	H133Y	Pathogenic/Likely pathogenic	1	4	6	106
MUT:MYO7A:Ile134Asn	PROT:Q13402	MYO7A	I	134	N	I134N	Pathogenic	1	5	6	105
MUT:MYO7A:Ile1775Thr	PROT:Q13402	MYO7A	I	1775	T	I1775T	Benign/Likely benign	0	1	6	292
MUT:MYO7A:Leu1027Pro	PROT:Q13402	MYO7A	L	1027	P	L1027P	Likely pathogenic	1	1	6	82
MUT:MYO7A:Leu1197Pro	PROT:Q13402	MYO7A	L	1197	P	L1197P	Pathogenic/Likely pathogenic	1	2	6	252
MUT:MYO7A:Leu1312Pro	PROT:Q13402	MYO7A	L	1312	P	L1312P	Likely pathogenic	1	1	6	168
MUT:MYO7A:Leu16Ser	PROT:Q13402	MYO7A	L	16	S	L16S	Benign/Likely benign	0	4	6	223
MUT:MYO7A:Leu1837His	PROT:Q13402	MYO7A	L	1837	H	L1837H	Pathogenic	1	2	6	299
MUT:MYO7A:Leu1837Pro	PROT:Q13402	MYO7A	L	1837	P	L1837P	Pathogenic/Likely pathogenic	1	5	6	299
MUT:MYO7A:Leu1851Pro	PROT:Q13402	MYO7A	L	1851	P	L1851P	Likely pathogenic	1	1	6	285
MUT:MYO7A:Leu1858Pro	PROT:Q13402	MYO7A	L	1858	P	L1858P	Pathogenic/Likely pathogenic	1	6	6	278
MUT:MYO7A:Leu1935Pro	PROT:Q13402	MYO7A	L	1935	P	L1935P	Likely pathogenic	1	4	6	201
MUT:MYO7A:Leu1954Ile	PROT:Q13402	MYO7A	L	1954	I	L1954I	Benign/Likely benign	0	4	6	182
MUT:MYO7A:Leu326Gln	PROT:Q13402	MYO7A	L	326	Q	L326Q	Likely pathogenic	1	5	6	87
MUT:MYO7A:Leu366Pro	PROT:Q13402	MYO7A	L	366	P	L366P	Pathogenic/Likely pathogenic	1	2	6	127
MUT:MYO7A:Leu406Gln	PROT:Q13402	MYO7A	L	406	Q	L406Q	Likely pathogenic	1	1	6	167
MUT:MYO7A:Leu509Val	PROT:Q13402	MYO7A	L	509	V	L509V	Likely pathogenic	1	2	6	270
MUT:MYO7A:Leu528Arg	PROT:Q13402	MYO7A	L	528	R	L528R	Likely pathogenic	1	2	6	289
MUT:MYO7A:Leu618Arg	PROT:Q13402	MYO7A	L	618	R	L618R	Pathogenic	1	1	6	327
MUT:MYO7A:Lys2021Arg	PROT:Q13402	MYO7A	K	2021	R	K2021R	Likely pathogenic	1	3	6	115
MUT:MYO7A:Lys400Asn	PROT:Q13402	MYO7A	K	400	N	K400N	Likely pathogenic	1	1	6	161
MUT:MYO7A:Met1Ile	PROT:Q13402	MYO7A	M	1	I	M1I	Pathogenic/Likely pathogenic	1	3	6	238
MUT:MYO7A:Met1Val	PROT:Q13402	MYO7A	M	1	V	M1V	Pathogenic/Likely pathogenic	1	3	6	238
MUT:MYO7A:Met262Arg	PROT:Q13402	MYO7A	M	262	R	M262R	Likely pathogenic	1	1	6	23
MUT:MYO7A:Met599Ile	PROT:Q13402	MYO7A	M	599	I	M599I	Pathogenic	1	2	6	346
MUT:MYO7A:Met946Arg	PROT:Q13402	MYO7A	M	946	R	M946R	Pathogenic/Likely pathogenic	1	1	6	1
MUT:MYO7A:Pro1204Thr	PROT:Q13402	MYO7A	P	1204	T	P1204T	Pathogenic/Likely pathogenic	1	1	6	259
MUT:MYO7A:Pro1243Arg	PROT:Q13402	MYO7A	P	1243	R	P1243R	Pathogenic/Likely pathogenic	1	2	6	237
MUT:MYO7A:Pro1243Leu	PROT:Q13402	MYO7A	P	1243	L	P1243L	Pathogenic/Likely pathogenic	1	2	6	237
MUT:MYO7A:Pro1887Leu	PROT:Q13402	MYO7A	P	1887	L	P1887L	Pathogenic/Likely pathogenic	1	4	6	249
MUT:MYO7A:Pro1887Ser	PROT:Q13402	MYO7A	P	1887	S	P1887S	Likely pathogenic	1	1	6	249
MUT:MYO7A:Pro1887Thr	PROT:Q13402	MYO7A	P	1887	T	P1887T	Likely pathogenic	1	1	6	249
MUT:MYO7A:Pro194Ser	PROT:Q13402	MYO7A	P	194	S	P194S	Likely pathogenic	1	1	6	45
MUT:MYO7A:Pro350Leu	PROT:Q13402	MYO7A	P	350	L	P350L	Likely benign	0	1	6	111
MUT:MYO7A:Ser1471Pro	PROT:Q13402	MYO7A	S	1471	P	S1471P	Pathogenic/Likely pathogenic	1	2	6	9
MUT:MYO7A:Ser1530Leu	PROT:Q13402	MYO7A	S	1530	L	S1530L	Benign/Likely benign	0	4	6	47
MUT:MYO7A:Ser160Cys	PROT:Q13402	MYO7A	S	160	C	S160C	Likely pathogenic	1	1	6	79
MUT:MYO7A:Ser1666Cys	PROT:Q13402	MYO7A	S	1666	C	S1666C	Benign	0	4	6	183
MUT:MYO7A:Ser1940Leu	PROT:Q13402	MYO7A	S	1940	L	S1940L	Likely pathogenic	1	1	6	196
MUT:MYO7A:Ser211Gly	PROT:Q13402	MYO7A	S	211	G	S211G	Pathogenic	1	3	6	28
MUT:MYO7A:Ser508Pro	PROT:Q13402	MYO7A	S	508	P	S508P	Likely pathogenic	1	1	6	269
MUT:MYO7A:Ser617Pro	PROT:Q13402	MYO7A	S	617	P	S617P	Likely pathogenic	1	7	6	328
MUT:MYO7A:Thr1566Met	PROT:Q13402	MYO7A	T	1566	M	T1566M	Benign/Likely benign	0	4	6	83
MUT:MYO7A:Thr165Ala	PROT:Q13402	MYO7A	T	165	A	T165A	Likely pathogenic	1	1	6	74
MUT:MYO7A:Thr165Met	PROT:Q13402	MYO7A	T	165	M	T165M	Pathogenic/Likely pathogenic	1	5	6	74
MUT:MYO7A:Thr1822Pro	PROT:Q13402	MYO7A	T	1822	P	T1822P	Likely pathogenic	1	1	6	314
MUT:MYO7A:Thr1841Arg	PROT:Q13402	MYO7A	T	1841	R	T1841R	Pathogenic/Likely pathogenic	1	2	6	295
MUT:MYO7A:Thr2109Ile	PROT:Q13402	MYO7A	T	2109	I	T2109I	Likely pathogenic	1	2	6	27
MUT:MYO7A:Thr2184Met	PROT:Q13402	MYO7A	T	2184	M	T2184M	Pathogenic/Likely pathogenic	1	2	6	45
MUT:MYO7A:Thr96Lys	PROT:Q13402	MYO7A	T	96	K	T96K	Likely pathogenic	1	1	6	143
MUT:MYO7A:Tyr1380His	PROT:Q13402	MYO7A	Y	1380	H	Y1380H	Likely pathogenic	1	2	6	100
MUT:MYO7A:Tyr1719Cys	PROT:Q13402	MYO7A	Y	1719	C	Y1719C	Benign/Likely benign	0	5	6	236
MUT:MYO7A:Tyr2015His	PROT:Q13402	MYO7A	Y	2015	H	Y2015H	Pathogenic/Likely pathogenic	1	2	6	121
MUT:MYO7A:Tyr256Cys	PROT:Q13402	MYO7A	Y	256	C	Y256C	Likely pathogenic	1	1	6	17
MUT:MYO7A:Tyr403Cys	PROT:Q13402	MYO7A	Y	403	C	Y403C	Likely pathogenic	1	2	6	164
MUT:MYO7A:Tyr560Cys	PROT:Q13402	MYO7A	Y	560	C	Y560C	Pathogenic/Likely pathogenic	1	4	6	321
MUT:MYO7A:Val105Gly	PROT:Q13402	MYO7A	V	105	G	V105G	Likely pathogenic	1	1	6	134
MUT:MYO7A:Val1371Glu	PROT:Q13402	MYO7A	V	1371	E	V1371E	Likely pathogenic	1	1	6	109
MUT:MYO7A:Val1372Gly	PROT:Q13402	MYO7A	V	1372	G	V1372G	Likely pathogenic	1	3	6	108
MUT:MYO7A:Val1454Gly	PROT:Q13402	MYO7A	V	1454	G	V1454G	Likely pathogenic	1	1	6	26
MUT:MYO7A:Val1519Met	PROT:Q13402	MYO7A	V	1519	M	V1519M	Likely benign	0	1	6	36
MUT:MYO7A:Val679Ile	PROT:Q13402	MYO7A	V	679	I	V679I	Benign/Likely benign	0	4	6	266
MUT:MYO9B:Arg1148His	PROT:Q13459	MYO9B	R	1148	H	R1148H	Likely benign	0	1	45	5
MUT:MYO9B:Arg2095Gln	PROT:Q13459	MYO9B	R	2095	Q	R2095Q	Benign	0	1	45	46
MUT:MYO9B:Arg56Gln	PROT:Q13459	MYO9B	R	56	Q	R56Q	Benign/Likely benign	0	2	45	7
MUT:MYO9B:Glu1124Gly	PROT:Q13459	MYO9B	E	1124	G	E1124G	Benign	0	1	45	2
MUT:MYO9B:Gly1280Ser	PROT:Q13459	MYO9B	G	1280	S	G1280S	Benign	0	1	45	10
MUT:MYO9B:Gly1686Arg	PROT:Q13459	MYO9B	G	1686	R	G1686R	Benign	0	7	45	3
MUT:MYO9B:Gly2030Ser	PROT:Q13459	MYO9B	G	2030	S	G2030S	Likely benign	0	2	45	19
MUT:MYO9B:Pro1406Leu	PROT:Q13459	MYO9B	P	1406	L	P1406L	Likely benign	0	1	45	1
MUT:MYO9B:Pro1754Ala	PROT:Q13459	MYO9B	P	1754	A	P1754A	Likely benign	0	1	45	71
MUT:MYO9B:Ser2018Leu	PROT:Q13459	MYO9B	S	2018	L	S2018L	Benign	0	1	45	26
MUT:MYO9B:Thr2033Ala	PROT:Q13459	MYO9B	T	2033	A	T2033A	Likely benign	0	1	45	16
MUT:MYRF:Ala52Thr	PROT:Q9Y2G1	MYRF	A	52	T	A52T	Benign	0	1	6	71
MUT:MYRF:Ala681Asp	PROT:Q9Y2G1	MYRF	A	681	D	A681D	Likely pathogenic	1	1	6	2
MUT:MYRF:Ala723Thr	PROT:Q9Y2G1	MYRF	A	723	T	A723T	Benign	0	1	6	9
MUT:MYRF:Arg1040Gly	PROT:Q9Y2G1	MYRF	R	1040	G	R1040G	Pathogenic	1	1	6	326
MUT:MYRF:Arg1114His	PROT:Q9Y2G1	MYRF	R	1114	H	R1114H	Benign	0	2	6	400
MUT:MYRF:Arg174His	PROT:Q9Y2G1	MYRF	R	174	H	R174H	Likely benign	0	1	6	51
MUT:MYRF:Arg526His	PROT:Q9Y2G1	MYRF	R	526	H	R526H	Likely pathogenic	1	1	6	121
MUT:MYRF:Arg920His	PROT:Q9Y2G1	MYRF	R	920	H	R920H	Benign	0	1	6	206
MUT:MYRF:Asn105Asp	PROT:Q9Y2G1	MYRF	N	105	D	N105D	Likely pathogenic	1	1	6	18
MUT:MYRF:Gln403Arg	PROT:Q9Y2G1	MYRF	Q	403	R	Q403R	Pathogenic	1	1	6	2
MUT:MYRF:Gln403His	PROT:Q9Y2G1	MYRF	Q	403	H	Q403H	Likely pathogenic	1	1	6	2
MUT:MYRF:Gln403Leu	PROT:Q9Y2G1	MYRF	Q	403	L	Q403L	Pathogenic	1	1	6	2
MUT:MYRF:Glu700Lys	PROT:Q9Y2G1	MYRF	E	700	K	E700K	Likely pathogenic	1	1	6	14
MUT:MYRF:Gly435Arg	PROT:Q9Y2G1	MYRF	G	435	R	G435R	Pathogenic/Likely pathogenic	1	1	6	30
MUT:MYRF:Gly96Ser	PROT:Q9Y2G1	MYRF	G	96	S	G96S	Likely benign	0	1	6	27
MUT:MYRF:Ile1108Val	PROT:Q9Y2G1	MYRF	I	1108	V	I1108V	Likely benign	0	1	6	394
MUT:MYRF:Leu1009Pro	PROT:Q9Y2G1	MYRF	L	1009	P	L1009P	Likely benign	0	1	6	295
MUT:MYRF:Leu479Val	PROT:Q9Y2G1	MYRF	L	479	V	L479V	Likely pathogenic	1	1	6	74
MUT:MYRF:Leu692Val	PROT:Q9Y2G1	MYRF	L	692	V	L692V	Likely pathogenic	1	1	6	9
MUT:MYRF:Met207Thr	PROT:Q9Y2G1	MYRF	M	207	T	M207T	Likely benign	0	1	6	52
MUT:MYRF:Phe387Ser	PROT:Q9Y2G1	MYRF	F	387	S	F387S	Likely pathogenic	1	1	6	18
MUT:MYRF:Pro115Leu	PROT:Q9Y2G1	MYRF	P	115	L	P115L	Likely benign	0	1	6	8
MUT:MYRF:Pro302Leu	PROT:Q9Y2G1	MYRF	P	302	L	P302L	Likely benign	0	1	6	43
MUT:MYRF:Pro414Leu	PROT:Q9Y2G1	MYRF	P	414	L	P414L	Likely pathogenic	1	1	6	9
MUT:MYRF:Pro881Ala	PROT:Q9Y2G1	MYRF	P	881	A	P881A	Likely benign	0	1	6	167
MUT:MYRF:Ser234Phe	PROT:Q9Y2G1	MYRF	S	234	F	S234F	Benign	0	1	6	25
MUT:MYRF:Ser803Phe	PROT:Q9Y2G1	MYRF	S	803	F	S803F	Likely benign	0	1	6	89
MUT:MYRF:Thr283Ile	PROT:Q9Y2G1	MYRF	T	283	I	T283I	Likely benign	0	1	6	24
MUT:MYRF:Thr97Pro	PROT:Q9Y2G1	MYRF	T	97	P	T97P	Likely benign	0	1	6	26
MUT:MYRF:Val1073Met	PROT:Q9Y2G1	MYRF	V	1073	M	V1073M	Likely benign	0	1	6	359
MUT:N4BP2:Met196Val	PROT:Q86UW6	N4BP2	M	196	V	M196V	Benign	0	9	42	64
MUT:N4BP2:Met882Ile	PROT:Q86UW6	N4BP2	M	882	I	M882I	Benign	0	4	42	24
MUT:NAA30:Pro151His	PROT:Q147X3	NAA30	P	151	H	P151H	Likely pathogenic	1	1	8	45
MUT:NAA35:Asp334Gly	PROT:Q5VZE5	NAA35	D	334	G	D334G	Likely benign	0	2	9	74
MUT:NAA60:Arg44Cys	PROT:Q9H7X0	NAA60	R	44	C	R44C	Pathogenic	1	1	3	35
MUT:NAA60:Asn143Thr	PROT:Q9H7X0	NAA60	N	143	T	N143T	Pathogenic	1	1	3	13
MUT:NAA60:His131Tyr	PROT:Q9H7X0	NAA60	H	131	Y	H131Y	Pathogenic	1	1	3	25
MUT:NAA60:Leu17Arg	PROT:Q9H7X0	NAA60	L	17	R	L17R	Pathogenic	1	1	3	62
MUT:NAF1:Ser89Leu	PROT:Q96HR8	NAF1	S	89	L	S89L	Benign/Likely benign	0	1	5	45
MUT:NAGA:Arg329Trp	PROT:P17050	NAGA	R	329	W	R329W	Likely pathogenic	1	2	1	7
MUT:NAGA:Leu263Ile	PROT:P17050	NAGA	L	263	I	L263I	Likely benign	0	1	1	59
MUT:NAGA:Leu280Ile	PROT:P17050	NAGA	L	280	I	L280I	Benign	0	1	1	42
MUT:NAGA:Leu280Phe	PROT:P17050	NAGA	L	280	F	L280F	Likely pathogenic	1	1	1	42
MUT:NAGPA:Ala501Thr	PROT:Q9UK23	NAGPA	A	501	T	A501T	Benign	0	1	1	15
MUT:NAGPA:Asn214Ser	PROT:Q9UK23	NAGPA	N	214	S	N214S	Likely benign	0	1	1	272
MUT:NAGPA:Gly440Ala	PROT:Q9UK23	NAGPA	G	440	A	G440A	Likely benign	0	1	1	46
MUT:NAGPA:Leu47Phe	PROT:Q9UK23	NAGPA	L	47	F	L47F	Likely benign	0	1	1	439
MUT:NAGS:Ala279Thr	PROT:Q8N159	NAGS	A	279	T	A279T	Pathogenic	1	1	4	4
MUT:NAGS:Ala314Thr	PROT:Q8N159	NAGS	A	314	T	A314T	Likely benign	0	1	4	25
MUT:NAGS:Cys200Arg	PROT:Q8N159	NAGS	C	200	R	C200R	Likely pathogenic	1	1	4	83
MUT:NAGS:Gln151Pro	PROT:Q8N159	NAGS	Q	151	P	Q151P	Likely benign	0	1	4	132
MUT:NAGS:Glu433Asp	PROT:Q8N159	NAGS	E	433	D	E433D	Pathogenic	1	1	4	51
MUT:NAGS:Glu61Gly	PROT:Q8N159	NAGS	E	61	G	E61G	Benign	0	1	4	222
MUT:NAGS:Leu430Pro	PROT:Q8N159	NAGS	L	430	P	L430P	Likely pathogenic	1	1	4	48
MUT:NAGS:Met167Val	PROT:Q8N159	NAGS	M	167	V	M167V	Likely pathogenic	1	1	4	116
MUT:NAGS:Met169Leu	PROT:Q8N159	NAGS	M	169	L	M169L	Likely benign	0	2	4	114
MUT:NAGS:Pro95Leu	PROT:Q8N159	NAGS	P	95	L	P95L	Benign/Likely benign	0	1	4	188
MUT:NAGS:Ser410Pro	PROT:Q8N159	NAGS	S	410	P	S410P	Pathogenic/Likely pathogenic	1	1	4	28
MUT:NAGS:Thr264Met	PROT:Q8N159	NAGS	T	264	M	T264M	Likely pathogenic	1	1	4	19
MUT:NAGS:Thr431Ile	PROT:Q8N159	NAGS	T	431	I	T431I	Pathogenic/Likely pathogenic	1	1	4	49
MUT:NAGS:Trp248Cys	PROT:Q8N159	NAGS	W	248	C	W248C	Likely pathogenic	1	1	4	35
MUT:NAGS:Trp484Arg	PROT:Q8N159	NAGS	W	484	R	W484R	Pathogenic	1	1	4	3
MUT:NANS:Gly133Val	PROT:Q9NR45	NANS	G	133	V	G133V	Pathogenic	1	1	23	1
MUT:NANS:Met117Ile	PROT:Q9NR45	NANS	M	117	I	M117I	Benign/Likely benign	0	7	23	17
MUT:NANS:Met159Arg	PROT:Q9NR45	NANS	M	159	R	M159R	Likely pathogenic	1	1	23	14
MUT:NANS:Met1Val	PROT:Q9NR45	NANS	M	1	V	M1V	Likely pathogenic	1	1	23	51
MUT:NANS:Pro18Leu	PROT:Q9NR45	NANS	P	18	L	P18L	Likely benign	0	1	23	34
MUT:NANS:Tyr188His	PROT:Q9NR45	NANS	Y	188	H	Y188H	Pathogenic/Likely pathogenic	1	1	23	0
MUT:NANS:Tyr203His	PROT:Q9NR45	NANS	Y	203	H	Y203H	Likely pathogenic	1	1	23	15
MUT:NAPB:Lys22Arg	PROT:Q9H115	NAPB	K	22	R	K22R	Benign	0	2	1	242
MUT:NAPEPLD:Trp315Cys	PROT:Q6IQ20	NAPEPLD	W	315	C	W315C	Pathogenic	1	1	2	19
MUT:NARS2:Arg9Trp	PROT:Q96I59	NARS2	R	9	W	R9W	Likely benign	0	1	8	107
MUT:NARS2:Asn361Ser	PROT:Q96I59	NARS2	N	361	S	N361S	Benign/Likely benign	0	1	8	4
MUT:NARS2:Asn381Ser	PROT:Q96I59	NARS2	N	381	S	N381S	Likely pathogenic	1	1	8	24
MUT:NARS2:Asn87Thr	PROT:Q96I59	NARS2	N	87	T	N87T	Benign	0	2	8	29
MUT:NARS2:Gln274His	PROT:Q96I59	NARS2	Q	274	H	Q274H	Pathogenic	1	1	8	72
MUT:NARS2:His473Asn	PROT:Q96I59	NARS2	H	473	N	H473N	Likely benign	0	1	8	10
MUT:NARS2:Ile182Lys	PROT:Q96I59	NARS2	I	182	K	I182K	Pathogenic	1	1	8	20
MUT:NARS2:Leu395Arg	PROT:Q96I59	NARS2	L	395	R	L395R	Pathogenic	1	1	8	38
MUT:NARS2:Phe211Ile	PROT:Q96I59	NARS2	F	211	I	F211I	Likely pathogenic	1	1	8	9
MUT:NARS2:Phe236Cys	PROT:Q96I59	NARS2	F	236	C	F236C	Pathogenic	1	1	8	34
MUT:NARS2:Pro214Leu	PROT:Q96I59	NARS2	P	214	L	P214L	Likely pathogenic	1	1	8	12
MUT:NAT1:Val149Ile	PROT:P18440	NAT1	V	149	I	V149I	Benign	0	1	8	36
MUT:NAXD:Arg181Trp	PROT:Q8IW45	NAXD	R	181	W	R181W	Benign/Likely benign	0	1	6	9
MUT:NAXD:Asn34Lys	PROT:Q8IW45	NAXD	N	34	K	N34K	Benign/Likely benign	0	2	6	12
MUT:NAXD:Gly63Ser	PROT:Q8IW45	NAXD	G	63	S	G63S	Pathogenic	1	1	6	17
MUT:NAXD:Ile106Met	PROT:Q8IW45	NAXD	I	106	M	I106M	Pathogenic	1	1	6	20
MUT:NAXD:Lys122Glu	PROT:Q8IW45	NAXD	K	122	E	K122E	Benign	0	1	6	36
MUT:NAXD:Ser235Phe	PROT:Q8IW45	NAXD	S	235	F	S235F	Likely pathogenic	1	1	6	11
MUT:NAXD:Val131Ile	PROT:Q8IW45	NAXD	V	131	I	V131I	Benign	0	1	6	41
MUT:NBEAL2:Ala1129Val	PROT:Q6ZNJ1	NBEAL2	A	1129	V	A1129V	Likely benign	0	1	26	52
MUT:NBEAL2:Ala2293Thr	PROT:Q6ZNJ1	NBEAL2	A	2293	T	A2293T	Likely pathogenic	1	1	26	28
MUT:NBEAL2:Ala753Thr	PROT:Q6ZNJ1	NBEAL2	A	753	T	A753T	Likely benign	0	1	26	4
MUT:NBEAL2:Ala786Thr	PROT:Q6ZNJ1	NBEAL2	A	786	T	A786T	Benign/Likely benign	0	2	26	29
MUT:NBEAL2:Arg127Gln	PROT:Q6ZNJ1	NBEAL2	R	127	Q	R127Q	Likely benign	0	1	26	37
MUT:NBEAL2:Arg1660Cys	PROT:Q6ZNJ1	NBEAL2	R	1660	C	R1660C	Likely benign	0	1	26	56
MUT:NBEAL2:Arg1826His	PROT:Q6ZNJ1	NBEAL2	R	1826	H	R1826H	Likely benign	0	1	26	2
MUT:NBEAL2:Arg2120Gln	PROT:Q6ZNJ1	NBEAL2	R	2120	Q	R2120Q	Likely pathogenic	1	1	26	4
MUT:NBEAL2:Arg2172Cys	PROT:Q6ZNJ1	NBEAL2	R	2172	C	R2172C	Likely pathogenic	1	1	26	19
MUT:NBEAL2:Arg2530Gln	PROT:Q6ZNJ1	NBEAL2	R	2530	Q	R2530Q	Likely benign	0	1	26	209
MUT:NBEAL2:Arg2592Gln	PROT:Q6ZNJ1	NBEAL2	R	2592	Q	R2592Q	Likely benign	0	1	26	271
MUT:NBEAL2:Arg447Cys	PROT:Q6ZNJ1	NBEAL2	R	447	C	R447C	Likely benign	0	1	26	44
MUT:NBEAL2:Arg447His	PROT:Q6ZNJ1	NBEAL2	R	447	H	R447H	Benign	0	1	26	44
MUT:NBEAL2:Arg511Gly	PROT:Q6ZNJ1	NBEAL2	R	511	G	R511G	Benign	0	1	26	43
MUT:NBEAL2:Arg534Cys	PROT:Q6ZNJ1	NBEAL2	R	534	C	R534C	Likely benign	0	1	26	20
MUT:NBEAL2:Asn2298Lys	PROT:Q6ZNJ1	NBEAL2	N	2298	K	N2298K	Likely pathogenic	1	1	26	23
MUT:NBEAL2:Asn2298Ser	PROT:Q6ZNJ1	NBEAL2	N	2298	S	N2298S	Likely pathogenic	1	1	26	23
MUT:NBEAL2:Asn929Lys	PROT:Q6ZNJ1	NBEAL2	N	929	K	N929K	Likely benign	0	1	26	22
MUT:NBEAL2:Asp287Ala	PROT:Q6ZNJ1	NBEAL2	D	287	A	D287A	Benign	0	2	26	57
MUT:NBEAL2:Cys1926Tyr	PROT:Q6ZNJ1	NBEAL2	C	1926	Y	C1926Y	Likely pathogenic	1	1	26	83
MUT:NBEAL2:Gln185Arg	PROT:Q6ZNJ1	NBEAL2	Q	185	R	Q185R	Likely benign	0	1	26	21
MUT:NBEAL2:Glu1833Lys	PROT:Q6ZNJ1	NBEAL2	E	1833	K	E1833K	Likely pathogenic	1	1	26	2
MUT:NBEAL2:Glu643Val	PROT:Q6ZNJ1	NBEAL2	E	643	V	E643V	Pathogenic	1	1	26	89
MUT:NBEAL2:Glu717Asp	PROT:Q6ZNJ1	NBEAL2	E	717	D	E717D	Likely pathogenic	1	1	26	40
MUT:NBEAL2:Gly1373Arg	PROT:Q6ZNJ1	NBEAL2	G	1373	R	G1373R	Likely benign	0	1	26	37
MUT:NBEAL2:Gly2403Val	PROT:Q6ZNJ1	NBEAL2	G	2403	V	G2403V	Likely benign	0	1	26	82
MUT:NBEAL2:Leu1557Val	PROT:Q6ZNJ1	NBEAL2	L	1557	V	L1557V	Benign/Likely benign	0	2	26	64
MUT:NBEAL2:Leu388Pro	PROT:Q6ZNJ1	NBEAL2	L	388	P	L388P	Pathogenic	1	1	26	11
MUT:NBEAL2:Met1747Thr	PROT:Q6ZNJ1	NBEAL2	M	1747	T	M1747T	Likely benign	0	1	26	31
MUT:NBEAL2:Met2080Lys	PROT:Q6ZNJ1	NBEAL2	M	2080	K	M2080K	Likely pathogenic	1	1	26	13
MUT:NBEAL2:Pro1888Ala	PROT:Q6ZNJ1	NBEAL2	P	1888	A	P1888A	Likely benign	0	1	26	47
MUT:NBEAL2:Pro2100Leu	PROT:Q6ZNJ1	NBEAL2	P	2100	L	P2100L	Pathogenic	1	1	26	24
MUT:NBEAL2:Pro744Leu	PROT:Q6ZNJ1	NBEAL2	P	744	L	P744L	Benign	0	1	26	13
MUT:NBEAL2:Pro913Leu	PROT:Q6ZNJ1	NBEAL2	P	913	L	P913L	Likely benign	0	1	26	6
MUT:NBEAL2:Ser2054Phe	PROT:Q6ZNJ1	NBEAL2	S	2054	F	S2054F	Benign	0	1	26	13
MUT:NBEAL2:Thr1113Met	PROT:Q6ZNJ1	NBEAL2	T	1113	M	T1113M	Benign/Likely benign	0	2	26	68
MUT:NBEAL2:Thr2446Met	PROT:Q6ZNJ1	NBEAL2	T	2446	M	T2446M	Likely benign	0	1	26	125
MUT:NBEAL2:Thr616Ile	PROT:Q6ZNJ1	NBEAL2	T	616	I	T616I	Likely benign	0	1	26	62
MUT:NBEAL2:Val683Ile	PROT:Q6ZNJ1	NBEAL2	V	683	I	V683I	Likely benign	0	1	26	74
MUT:NBN:Ala32Gly	PROT:O60934	NBN	A	32	G	A32G	Likely benign	0	1	67	8
MUT:NBN:Ala446Val	PROT:O60934	NBN	A	446	V	A446V	Likely benign	0	1	67	1
MUT:NBN:Arg445Trp	PROT:O60934	NBN	R	445	W	R445W	Likely benign	0	1	67	2
MUT:NBN:Asn414Lys	PROT:O60934	NBN	N	414	K	N414K	Likely benign	0	1	67	9
MUT:NBN:Asn548Lys	PROT:O60934	NBN	N	548	K	N548K	Likely benign	0	1	67	4
MUT:NBN:Asn716Asp	PROT:O60934	NBN	N	716	D	N716D	Benign/Likely benign	0	3	67	1
MUT:NBN:Asp525Gly	PROT:O60934	NBN	D	525	G	D525G	Likely pathogenic	1	1	67	1
MUT:NBN:Glu185Gln	PROT:O60934	NBN	E	185	Q	E185Q	Benign	0	4	67	3
MUT:NBN:Glu36Asp	PROT:O60934	NBN	E	36	D	E36D	Likely benign	0	1	67	12
MUT:NBN:Glu564Lys	PROT:O60934	NBN	E	564	K	E564K	Benign/Likely benign	0	3	67	20
MUT:NBN:Glu628Lys	PROT:O60934	NBN	E	628	K	E628K	Benign/Likely benign	0	4	67	1
MUT:NBN:Gly674Ser	PROT:O60934	NBN	G	674	S	G674S	Likely benign	0	1	67	1
MUT:NBN:Leu264Ser	PROT:O60934	NBN	L	264	S	L264S	Likely benign	0	1	67	14
MUT:NBN:Leu68Ile	PROT:O60934	NBN	L	68	I	L68I	Likely benign	0	1	67	5
MUT:NBN:Lys408Glu	PROT:O60934	NBN	K	408	E	K408E	Benign/Likely benign	0	4	67	6
MUT:NBN:Lys443Arg	PROT:O60934	NBN	K	443	R	K443R	Likely benign	0	1	67	1
MUT:NBN:Lys642Glu	PROT:O60934	NBN	K	642	E	K642E	Likely benign	0	1	67	7
MUT:NBN:Lys683Asn	PROT:O60934	NBN	K	683	N	K683N	Likely benign	0	1	67	0
MUT:NBN:Met152Thr	PROT:O60934	NBN	M	152	T	M152T	Likely pathogenic	1	1	67	36
MUT:NBN:Pro266Leu	PROT:O60934	NBN	P	266	L	P266L	Benign/Likely benign	0	4	67	12
MUT:NBN:Pro401Ser	PROT:O60934	NBN	P	401	S	P401S	Likely benign	0	1	67	1
MUT:NBN:Pro672Ala	PROT:O60934	NBN	P	672	A	P672A	Likely benign	0	1	67	1
MUT:NBN:Ser207Asn	PROT:O60934	NBN	S	207	N	S207N	Likely benign	0	1	67	1
MUT:NBN:Ser647Gly	PROT:O60934	NBN	S	647	G	S647G	Likely benign	0	2	67	12
MUT:NBN:Ser669Ala	PROT:O60934	NBN	S	669	A	S669A	Likely benign	0	1	67	4
MUT:NBN:Thr497Ala	PROT:O60934	NBN	T	497	A	T497A	Benign/Likely benign	0	5	67	0
MUT:NBN:Tyr693Phe	PROT:O60934	NBN	Y	693	F	Y693F	Likely benign	0	1	67	3
MUT:NBN:Tyr749Asn	PROT:O60934	NBN	Y	749	N	Y749N	Likely benign	0	1	67	2
MUT:NCAN:Gln1288His	PROT:O14594	NCAN	Q	1288	H	Q1288H	Likely benign	0	1	2	743
MUT:NCAPH2:Arg20Pro	PROT:Q6IBW4	NCAPH2	R	20	P	R20P	Benign	0	3	24	75
MUT:NCF2:Ala128Val	PROT:P19878	NCF2	A	128	V	A128V	Likely pathogenic	1	2	6	3
MUT:NCF2:Ala202Val	PROT:P19878	NCF2	A	202	V	A202V	Pathogenic/Likely pathogenic	1	3	6	31
MUT:NCF2:Arg386Gln	PROT:P19878	NCF2	R	386	Q	R386Q	Benign/Likely benign	0	1	6	54
MUT:NCF2:Arg395Trp	PROT:P19878	NCF2	R	395	W	R395W	Benign/Likely benign	0	1	6	63
MUT:NCF2:Asn419Ile	PROT:P19878	NCF2	N	419	I	N419I	Benign/Likely benign	0	2	6	87
MUT:NCF2:Asn448Asp	PROT:P19878	NCF2	N	448	D	N448D	Benign	0	2	6	116
MUT:NCF2:Asp518His	PROT:P19878	NCF2	D	518	H	D518H	Likely benign	0	1	6	186
MUT:NCF2:Gln285His	PROT:P19878	NCF2	Q	285	H	Q285H	Pathogenic/Likely pathogenic	1	1	6	27
MUT:NCF2:Glu235Lys	PROT:P19878	NCF2	E	235	K	E235K	Benign	0	1	6	2
MUT:NCF2:His389Gln	PROT:P19878	NCF2	H	389	Q	H389Q	Benign/Likely benign	0	1	6	57
MUT:NCF2:Lys181Arg	PROT:P19878	NCF2	K	181	R	K181R	Benign/Likely benign	0	1	6	24
MUT:NCF2:Met1Thr	PROT:P19878	NCF2	M	1	T	M1T	Pathogenic	1	1	6	1
MUT:NCF2:Pro454Ser	PROT:P19878	NCF2	P	454	S	P454S	Benign/Likely benign	0	2	6	122
MUT:NCF2:Thr279Met	PROT:P19878	NCF2	T	279	M	T279M	Benign/Likely benign	0	2	6	33
MUT:NCF2:Tyr394Asp	PROT:P19878	NCF2	Y	394	D	Y394D	Pathogenic/Likely pathogenic	1	2	6	62
MUT:NCF2:Val297Ala	PROT:P19878	NCF2	V	297	A	V297A	Benign/Likely benign	0	1	6	15
MUT:NCF4:Ala256Thr	PROT:Q15080	NCF4	A	256	T	A256T	Likely benign	0	1	6	13
MUT:NCF4:Arg105Gln	PROT:Q15080	NCF4	R	105	Q	R105Q	Pathogenic	1	2	6	49
MUT:NCF4:Arg308Gln	PROT:Q15080	NCF4	R	308	Q	R308Q	Likely benign	0	1	6	7
MUT:NCF4:Asp254Asn	PROT:Q15080	NCF4	D	254	N	D254N	Likely benign	0	1	6	11
MUT:NCF4:Met1Ile	PROT:Q15080	NCF4	M	1	I	M1I	Likely pathogenic	1	1	6	153
MUT:NCF4:Pro265Ser	PROT:Q15080	NCF4	P	265	S	P265S	Likely benign	0	1	6	22
MUT:NCF4:Thr36Pro	PROT:Q15080	NCF4	T	36	P	T36P	Likely benign	0	1	6	118
MUT:NCF4:Thr85Asn	PROT:Q15080	NCF4	T	85	N	T85N	Benign/Likely benign	0	1	6	69
MUT:NCF4:Val160Met	PROT:Q15080	NCF4	V	160	M	V160M	Benign/Likely benign	0	2	6	1
MUT:NCKAP1:Arg669Ser	PROT:Q9Y2A7	NCKAP1	R	669	S	R669S	Likely pathogenic	1	1	16	24
MUT:NCKAP1:Gly362Ala	PROT:Q9Y2A7	NCKAP1	G	362	A	G362A	Likely benign	0	1	16	11
MUT:NCKAP1:Ile939Val	PROT:Q9Y2A7	NCKAP1	I	939	V	I939V	Likely benign	0	2	16	37
MUT:NCKAP1L:Ala1116Thr	PROT:P55160	NCKAP1L	A	1116	T	A1116T	Likely pathogenic	1	1	17	445
MUT:NCKAP1L:Arg129Trp	PROT:P55160	NCKAP1L	R	129	W	R129W	Pathogenic	1	1	17	48
MUT:NCKAP1L:Arg258Leu	PROT:P55160	NCKAP1L	R	258	L	R258L	Likely pathogenic	1	1	17	55
MUT:NCKAP1L:Asp66His	PROT:P55160	NCKAP1L	D	66	H	D66H	Benign	0	1	17	5
MUT:NCKAP1L:Ile58Val	PROT:P55160	NCKAP1L	I	58	V	I58V	Likely benign	0	1	17	2
MUT:NCKAP1L:Met1Thr	PROT:P55160	NCKAP1L	M	1	T	M1T	Likely pathogenic	1	1	17	32
MUT:NCKAP1L:Met371Leu	PROT:P55160	NCKAP1L	M	371	L	M371L	Likely pathogenic	1	1	17	22
MUT:NCKAP1L:Met371Val	PROT:P55160	NCKAP1L	M	371	V	M371V	Pathogenic/Likely pathogenic	1	1	17	22
MUT:NCKAP1L:Pro359Leu	PROT:P55160	NCKAP1L	P	359	L	P359L	Pathogenic/Likely pathogenic	1	1	17	10
MUT:NCKAP1L:Val141Phe	PROT:P55160	NCKAP1L	V	141	F	V141F	Pathogenic	1	1	17	60
MUT:NCKAP1L:Val498Met	PROT:P55160	NCKAP1L	V	498	M	V498M	Likely pathogenic	1	1	17	2
MUT:NCKAP1L:Val519Leu	PROT:P55160	NCKAP1L	V	519	L	V519L	Likely pathogenic	1	1	17	19
MUT:NCOA4:Asn248Ser	PROT:Q13772	NCOA4	N	248	S	N248S	Benign	0	15	27	11
MUT:NCOA6:Ser1913Asn	PROT:Q14686	NCOA6	S	1913	N	S1913N	Benign	0	1	15	105
MUT:NCOR1:Ala2182Thr	PROT:O75376	NCOR1	A	2182	T	A2182T	Benign	0	1	78	2
MUT:NCOR1:Arg1113Gln	PROT:O75376	NCOR1	R	1113	Q	R1113Q	Benign	0	1	78	30
MUT:NCOR1:Arg1229Gln	PROT:O75376	NCOR1	R	1229	Q	R1229Q	Likely benign	0	1	78	3
MUT:NCOR1:Gly838Ala	PROT:O75376	NCOR1	G	838	A	G838A	Benign/Likely benign	0	1	78	17
MUT:NCOR1:Leu1406Phe	PROT:O75376	NCOR1	L	1406	F	L1406F	Benign	0	1	78	6
MUT:NCOR1:Leu915Arg	PROT:O75376	NCOR1	L	915	R	L915R	Likely benign	0	1	78	50
MUT:NCOR1:Met2226Ile	PROT:O75376	NCOR1	M	2226	I	M2226I	Likely benign	0	1	78	27
MUT:NCOR1:Met2290Ile	PROT:O75376	NCOR1	M	2290	I	M2290I	Benign/Likely benign	0	2	78	25
MUT:NCOR1:Ser789Thr	PROT:O75376	NCOR1	S	789	T	S789T	Likely benign	0	1	78	32
MUT:NDP:Ala105Thr	PROT:Q00604	NDP	A	105	T	A105T	Pathogenic	1	1	1	91
MUT:NDP:Arg121Gln	PROT:Q00604	NDP	R	121	Q	R121Q	Pathogenic	1	1	1	107
MUT:NDP:Arg121Leu	PROT:Q00604	NDP	R	121	L	R121L	Pathogenic	1	1	1	107
MUT:NDP:Arg121Trp	PROT:Q00604	NDP	R	121	W	R121W	Pathogenic/Likely pathogenic	1	3	1	107
MUT:NDP:Arg74Cys	PROT:Q00604	NDP	R	74	C	R74C	Pathogenic	1	1	1	60
MUT:NDP:Arg90Cys	PROT:Q00604	NDP	R	90	C	R90C	Likely pathogenic	1	2	1	76
MUT:NDP:Cys110Gly	PROT:Q00604	NDP	C	110	G	C110G	Pathogenic	1	1	1	96
MUT:NDP:Cys110Phe	PROT:Q00604	NDP	C	110	F	C110F	Likely pathogenic	1	1	1	96
MUT:NDP:Cys128Trp	PROT:Q00604	NDP	C	128	W	C128W	Pathogenic	1	1	1	114
MUT:NDP:Cys69Ser	PROT:Q00604	NDP	C	69	S	C69S	Pathogenic	1	1	1	55
MUT:NDP:Cys96Trp	PROT:Q00604	NDP	C	96	W	C96W	Pathogenic	1	1	1	82
MUT:NDP:Cys96Tyr	PROT:Q00604	NDP	C	96	Y	C96Y	Pathogenic	1	1	1	82
MUT:NDP:Gly67Trp	PROT:Q00604	NDP	G	67	W	G67W	Pathogenic	1	1	1	53
MUT:NDP:Gly67Val	PROT:Q00604	NDP	G	67	V	G67V	Likely pathogenic	1	1	1	53
MUT:NDP:His42Arg	PROT:Q00604	NDP	H	42	R	H42R	Pathogenic	1	2	1	28
MUT:NDP:His43Arg	PROT:Q00604	NDP	H	43	R	H43R	Likely pathogenic	1	1	1	29
MUT:NDP:Ile48Thr	PROT:Q00604	NDP	I	48	T	I48T	Likely pathogenic	1	1	1	34
MUT:NDP:Leu103Val	PROT:Q00604	NDP	L	103	V	L103V	Likely pathogenic	1	1	1	89
MUT:NDP:Leu124Phe	PROT:Q00604	NDP	L	124	F	L124F	Pathogenic	1	1	1	110
MUT:NDP:Leu13Arg	PROT:Q00604	NDP	L	13	R	L13R	Pathogenic	1	1	1	1
MUT:NDP:Leu61Ile	PROT:Q00604	NDP	L	61	I	L61I	Likely pathogenic	1	1	1	47
MUT:NDP:Leu61Phe	PROT:Q00604	NDP	L	61	F	L61F	Pathogenic	1	2	1	47
MUT:NDP:Lys104Gln	PROT:Q00604	NDP	K	104	Q	K104Q	Pathogenic	1	1	1	90
MUT:NDP:Lys54Asn	PROT:Q00604	NDP	K	54	N	K54N	Pathogenic	1	1	1	40
MUT:NDP:Met1Val	PROT:Q00604	NDP	M	1	V	M1V	Pathogenic	1	1	1	13
MUT:NDP:Phe81Ser	PROT:Q00604	NDP	F	81	S	F81S	Likely pathogenic	1	1	1	67
MUT:NDP:Pro98Leu	PROT:Q00604	NDP	P	98	L	P98L	Likely pathogenic	1	1	1	84
MUT:NDP:Ser101Phe	PROT:Q00604	NDP	S	101	F	S101F	Pathogenic	1	1	1	87
MUT:NDP:Ser75Cys	PROT:Q00604	NDP	S	75	C	S75C	Likely pathogenic	1	2	1	61
MUT:NDP:Thr119Pro	PROT:Q00604	NDP	T	119	P	T119P	Likely pathogenic	1	1	1	105
MUT:NDP:Tyr44Cys	PROT:Q00604	NDP	Y	44	C	Y44C	Likely pathogenic	1	1	1	30
MUT:NDP:Val45Glu	PROT:Q00604	NDP	V	45	E	V45E	Pathogenic	1	1	1	31
MUT:NDP:Val60Glu	PROT:Q00604	NDP	V	60	E	V60E	Pathogenic	1	1	1	46
MUT:NDRG1:Met67Val	PROT:Q92597	NDRG1	M	67	V	M67V	Benign/Likely benign	0	3	34	48
MUT:NDST1:Arg709Gln	PROT:P52848	NDST1	R	709	Q	R709Q	Pathogenic	1	1	5	2
MUT:NDST1:Glu642Asp	PROT:P52848	NDST1	E	642	D	E642D	Pathogenic	1	1	5	69
MUT:NDST1:Gly611Ser	PROT:P52848	NDST1	G	611	S	G611S	Pathogenic/Likely pathogenic	1	2	5	100
MUT:NDST1:Met390Ile	PROT:P52848	NDST1	M	390	I	M390I	Likely benign	0	1	5	321
MUT:NDST1:Phe640Leu	PROT:P52848	NDST1	F	640	L	F640L	Likely pathogenic	1	1	5	71
MUT:NDST1:Val14Met	PROT:P52848	NDST1	V	14	M	V14M	Likely benign	0	1	5	697
MUT:NDUFA10:Ala2Gly	PROT:O95299	NDUFA10	A	2	G	A2G	Benign	0	2	13	78
MUT:NDUFA10:Arg139Cys	PROT:O95299	NDUFA10	R	139	C	R139C	Likely pathogenic	1	1	13	42
MUT:NDUFA10:Arg217Trp	PROT:O95299	NDUFA10	R	217	W	R217W	Likely benign	0	1	13	14
MUT:NDUFA10:Asn65Ser	PROT:O95299	NDUFA10	N	65	S	N65S	Benign/Likely benign	0	3	13	15
MUT:NDUFA10:Gln142Arg	PROT:O95299	NDUFA10	Q	142	R	Q142R	Pathogenic	1	1	13	39
MUT:NDUFA10:Glu238Lys	PROT:O95299	NDUFA10	E	238	K	E238K	Benign/Likely benign	0	3	13	3
MUT:NDUFA10:His329Arg	PROT:O95299	NDUFA10	H	329	R	H329R	Likely benign	0	1	13	9
MUT:NDUFA10:Leu294Pro	PROT:O95299	NDUFA10	L	294	P	L294P	Pathogenic	1	1	13	9
MUT:NDUFA10:Leu297Pro	PROT:O95299	NDUFA10	L	297	P	L297P	Likely pathogenic	1	1	13	12
MUT:NDUFA10:Met1Val	PROT:O95299	NDUFA10	M	1	V	M1V	Likely pathogenic	1	1	13	79
MUT:NDUFA10:Val18Leu	PROT:O95299	NDUFA10	V	18	L	V18L	Likely benign	0	1	13	62
MUT:NDUFA13:Arg57His	PROT:Q9P0J0	NDUFA13	R	57	H	R57H	Likely pathogenic	1	2	5	22
MUT:NDUFA13:Leu25Trp	PROT:Q9P0J0	NDUFA13	L	25	W	L25W	Benign	0	1	5	18
MUT:NDUFA13:Leu36Pro	PROT:Q9P0J0	NDUFA13	L	36	P	L36P	Pathogenic	1	2	5	29
MUT:NDUFA13:Lys5Asn	PROT:Q9P0J0	NDUFA13	K	5	N	K5N	Pathogenic	1	1	5	2
MUT:NDUFA1:Arg37Ser	PROT:O15239	NDUFA1	R	37	S	R37S	Pathogenic	1	1	1	18
MUT:NDUFA1:Gly32Arg	PROT:O15239	NDUFA1	G	32	R	G32R	Benign/Likely benign	0	5	1	23
MUT:NDUFA1:Gly8Arg	PROT:O15239	NDUFA1	G	8	R	G8R	Pathogenic	1	1	1	47
MUT:NDUFA9:Ala5Val	PROT:Q16795	NDUFA9	A	5	V	A5V	Likely benign	0	1	11	2
MUT:NDUFA9:Arg222Trp	PROT:Q16795	NDUFA9	R	222	W	R222W	Likely benign	0	1	11	12
MUT:NDUFA9:Arg321Pro	PROT:Q16795	NDUFA9	R	321	P	R321P	Pathogenic	1	1	11	7
MUT:NDUFA9:Arg354Gln	PROT:Q16795	NDUFA9	R	354	Q	R354Q	Likely pathogenic	1	1	11	11
MUT:NDUFA9:Arg357Gly	PROT:Q16795	NDUFA9	R	357	G	R357G	Pathogenic	1	1	11	14
MUT:NDUFA9:Arg360Gly	PROT:Q16795	NDUFA9	R	360	G	R360G	Pathogenic	1	1	11	17
MUT:NDUFA9:Arg75His	PROT:Q16795	NDUFA9	R	75	H	R75H	Likely benign	0	1	11	3
MUT:NDUFA9:Asn259Ser	PROT:Q16795	NDUFA9	N	259	S	N259S	Likely benign	0	1	11	5
MUT:NDUFA9:Gly267Val	PROT:Q16795	NDUFA9	G	267	V	G267V	Pathogenic	1	1	11	13
MUT:NDUFA9:Lys237Ile	PROT:Q16795	NDUFA9	K	237	I	K237I	Pathogenic	1	1	11	0
MUT:NDUFA9:Pro294Leu	PROT:Q16795	NDUFA9	P	294	L	P294L	Benign	0	1	11	34
MUT:NDUFA9:Ser7Pro	PROT:Q16795	NDUFA9	S	7	P	S7P	Likely benign	0	1	11	0
MUT:NDUFA9:Val201Ile	PROT:Q16795	NDUFA9	V	201	I	V201I	Likely benign	0	1	11	12
MUT:NDUFAB1:Asn101Asp	PROT:O14561	NDUFAB1	N	101	D	N101D	Likely benign	0	1	4	2
MUT:NDUFAF5:Arg49Leu	PROT:Q5TEU4	NDUFAF5	R	49	L	R49L	Likely pathogenic	1	1	3	15
MUT:NDUFAF5:Arg61Trp	PROT:Q5TEU4	NDUFAF5	R	61	W	R61W	Likely benign	0	1	3	27
MUT:NDUFAF5:Asn150Ser	PROT:Q5TEU4	NDUFAF5	N	150	S	N150S	Benign/Likely benign	0	5	3	41
MUT:NDUFAF5:Gln55Lys	PROT:Q5TEU4	NDUFAF5	Q	55	K	Q55K	Pathogenic	1	1	3	21
MUT:NDUFAF5:Glu142Ala	PROT:Q5TEU4	NDUFAF5	E	142	A	E142A	Likely pathogenic	1	2	3	33
MUT:NDUFAF5:Glu205Ala	PROT:Q5TEU4	NDUFAF5	E	205	A	E205A	Likely pathogenic	1	1	3	96
MUT:NDUFAF5:Glu263Lys	PROT:Q5TEU4	NDUFAF5	E	263	K	E263K	Likely pathogenic	1	1	3	154
MUT:NDUFAF5:Glu64Lys	PROT:Q5TEU4	NDUFAF5	E	64	K	E64K	Likely benign	0	1	3	30
MUT:NDUFAF5:Gly250Val	PROT:Q5TEU4	NDUFAF5	G	250	V	G250V	Pathogenic/Likely pathogenic	1	3	3	141
MUT:NDUFAF5:Gly97Asp	PROT:Q5TEU4	NDUFAF5	G	97	D	G97D	Likely pathogenic	1	1	3	12
MUT:NDUFAF5:Leu159Phe	PROT:Q5TEU4	NDUFAF5	L	159	F	L159F	Pathogenic	1	1	3	50
MUT:NDUFAF5:Lys109Asn	PROT:Q5TEU4	NDUFAF5	K	109	N	K109N	Pathogenic/Likely pathogenic	1	7	3	0
MUT:NDUFAF5:Lys52Thr	PROT:Q5TEU4	NDUFAF5	K	52	T	K52T	Likely pathogenic	1	2	3	18
MUT:NDUFAF5:Met1Ile	PROT:Q5TEU4	NDUFAF5	M	1	I	M1I	Pathogenic	1	1	3	30
MUT:NDUFAF5:Met1Leu	PROT:Q5TEU4	NDUFAF5	M	1	L	M1L	Pathogenic/Likely pathogenic	1	2	3	30
MUT:NDUFAF5:Met1Thr	PROT:Q5TEU4	NDUFAF5	M	1	T	M1T	Likely pathogenic	1	1	3	30
MUT:NDUFAF5:Met251Arg	PROT:Q5TEU4	NDUFAF5	M	251	R	M251R	Likely pathogenic	1	1	3	142
MUT:NDUFAF5:Met261Thr	PROT:Q5TEU4	NDUFAF5	M	261	T	M261T	Likely pathogenic	1	1	3	152
MUT:NDUFAF5:Met279Arg	PROT:Q5TEU4	NDUFAF5	M	279	R	M279R	Pathogenic/Likely pathogenic	1	3	3	170
MUT:NDUFB3:Trp22Arg	PROT:O43676	NDUFB3	W	22	R	W22R	Pathogenic/Likely pathogenic	1	2	3	1
MUT:NDUFB8:Cys144Trp	PROT:O95169	NDUFB8	C	144	W	C144W	Pathogenic	1	1	1	67
MUT:NDUFB8:Gln12Arg	PROT:O95169	NDUFB8	Q	12	R	Q12R	Likely benign	0	1	1	65
MUT:NDUFB8:Pro104Leu	PROT:O95169	NDUFB8	P	104	L	P104L	Benign	0	1	1	27
MUT:NDUFB8:Pro123Arg	PROT:O95169	NDUFB8	P	123	R	P123R	Likely benign	0	1	1	46
MUT:NDUFB8:Pro76Gln	PROT:O95169	NDUFB8	P	76	Q	P76Q	Pathogenic	1	1	1	1
MUT:NDUFB8:Tyr62His	PROT:O95169	NDUFB8	Y	62	H	Y62H	Pathogenic	1	1	1	15
MUT:NDUFB8:Val149Met	PROT:O95169	NDUFB8	V	149	M	V149M	Benign	0	1	1	72
MUT:NDUFS1:Arg408His	PROT:P28331	NDUFS1	R	408	H	R408H	Likely pathogenic	1	1	29	26
MUT:NDUFS1:Asn282Ser	PROT:P28331	NDUFS1	N	282	S	N282S	Likely pathogenic	1	1	29	7
MUT:NDUFS1:Asp252Gly	PROT:P28331	NDUFS1	D	252	G	D252G	Pathogenic	1	1	29	2
MUT:NDUFS1:Asp619Asn	PROT:P28331	NDUFS1	D	619	N	D619N	Pathogenic	1	1	29	2
MUT:NDUFS1:Gln140Arg	PROT:P28331	NDUFS1	Q	140	R	Q140R	Likely pathogenic	1	1	29	32
MUT:NDUFS1:Ile183Ser	PROT:P28331	NDUFS1	I	183	S	I183S	Likely pathogenic	1	2	29	53
MUT:NDUFS1:Met173Arg	PROT:P28331	NDUFS1	M	173	R	M173R	Likely pathogenic	1	1	29	63
MUT:NDUFS1:Met707Ile	PROT:P28331	NDUFS1	M	707	I	M707I	Likely pathogenic	1	1	29	2
MUT:NDUFS1:Thr595Ala	PROT:P28331	NDUFS1	T	595	A	T595A	Likely pathogenic	1	1	29	0
MUT:NDUFS1:Val228Ala	PROT:P28331	NDUFS1	V	228	A	V228A	Pathogenic/Likely pathogenic	1	1	29	8
MUT:NDUFS1:Val253Gly	PROT:P28331	NDUFS1	V	253	G	V253G	Likely pathogenic	1	1	29	3
MUT:NDUFS1:Val371Asp	PROT:P28331	NDUFS1	V	371	D	V371D	Likely pathogenic	1	1	29	54
MUT:NDUFS2:Ala90Thr	PROT:O75306	NDUFS2	A	90	T	A90T	Likely pathogenic	1	1	3	17
MUT:NDUFS2:Pro20Thr	PROT:O75306	NDUFS2	P	20	T	P20T	Benign	0	2	3	42
MUT:NDUFS2:Pro229Gln	PROT:O75306	NDUFS2	P	229	Q	P229Q	Pathogenic	1	1	3	156
MUT:NDUFS2:Pro352Ala	PROT:O75306	NDUFS2	P	352	A	P352A	Benign/Likely benign	0	2	3	73
MUT:NDUFS2:Ser413Pro	PROT:O75306	NDUFS2	S	413	P	S413P	Likely pathogenic	1	1	3	12
MUT:NDUFS2:Tyr308Cys	PROT:O75306	NDUFS2	Y	308	C	Y308C	Pathogenic	1	1	3	117
MUT:NDUFS3:Arg140Gly	PROT:O75489	NDUFS3	R	140	G	R140G	Likely pathogenic	1	1	15	4
MUT:NDUFS3:Arg199Trp	PROT:O75489	NDUFS3	R	199	W	R199W	Pathogenic/Likely pathogenic	1	1	15	1
MUT:NDUFS3:Met1Ile	PROT:O75489	NDUFS3	M	1	I	M1I	Likely pathogenic	1	1	15	37
MUT:NDUFS3:Thr145Ile	PROT:O75489	NDUFS3	T	145	I	T145I	Pathogenic/Likely pathogenic	1	2	15	1
MUT:NDUFS4:Asp119His	PROT:O43181	NDUFS4	D	119	H	D119H	Pathogenic/Likely pathogenic	1	3	5	38
MUT:NDUFS4:Val9Ala	PROT:O43181	NDUFS4	V	9	A	V9A	Likely benign	0	1	5	23
MUT:NDUFV1:Ala341Val	PROT:P49821	NDUFV1	A	341	V	A341V	Pathogenic/Likely pathogenic	1	3	15	17
MUT:NDUFV1:Arg386Cys	PROT:P49821	NDUFV1	R	386	C	R386C	Pathogenic/Likely pathogenic	1	2	15	3
MUT:NDUFV1:Arg386His	PROT:P49821	NDUFV1	R	386	H	R386H	Pathogenic/Likely pathogenic	1	4	15	3
MUT:NDUFV1:Arg401Lys	PROT:P49821	NDUFV1	R	401	K	R401K	Likely benign	0	1	15	7
MUT:NDUFV1:Arg40Trp	PROT:P49821	NDUFV1	R	40	W	R40W	Likely pathogenic	1	1	15	11
MUT:NDUFV1:Arg52Ser	PROT:P49821	NDUFV1	R	52	S	R52S	Likely benign	0	1	15	14
MUT:NDUFV1:Asp127Gly	PROT:P49821	NDUFV1	D	127	G	D127G	Likely pathogenic	1	1	15	1
MUT:NDUFV1:Glu214Lys	PROT:P49821	NDUFV1	E	214	K	E214K	Pathogenic	1	2	15	37
MUT:NDUFV1:Gly388Asp	PROT:P49821	NDUFV1	G	388	D	G388D	Likely pathogenic	1	1	15	5
MUT:NDUFV1:Met1Ile	PROT:P49821	NDUFV1	M	1	I	M1I	Likely pathogenic	1	1	15	28
MUT:NDUFV1:Phe373Ser	PROT:P49821	NDUFV1	F	373	S	F373S	Likely pathogenic	1	2	15	2
MUT:NDUFV1:Pro122Leu	PROT:P49821	NDUFV1	P	122	L	P122L	Pathogenic/Likely pathogenic	1	2	15	4
MUT:NDUFV1:Thr423Met	PROT:P49821	NDUFV1	T	423	M	T423M	Pathogenic/Likely pathogenic	1	4	15	29
MUT:NDUFV1:Tyr204Cys	PROT:P49821	NDUFV1	Y	204	C	Y204C	Pathogenic/Likely pathogenic	1	1	15	47
MUT:NDUFV1:Val115Glu	PROT:P49821	NDUFV1	V	115	E	V115E	Likely pathogenic	1	1	15	4
MUT:NDUFV2:Ala116Pro	PROT:P19404	NDUFV2	A	116	P	A116P	Likely pathogenic	1	1	5	31
MUT:NDUFV2:Ala183Thr	PROT:P19404	NDUFV2	A	183	T	A183T	Pathogenic/Likely pathogenic	1	1	5	10
MUT:NDUFV2:Val29Ala	PROT:P19404	NDUFV2	V	29	A	V29A	Benign	0	3	5	14
MUT:NDUFV2:Val40Met	PROT:P19404	NDUFV2	V	40	M	V40M	Benign/Likely benign	0	1	5	21
MUT:NDUFV3:Ala3Asp	PROT:P56181	NDUFV3	A	3	D	A3D	Likely benign	0	1	1	102
MUT:NDUFV3:Lys56Asn	PROT:P56181	NDUFV3	K	56	N	K56N	Likely benign	0	21	1	49
MUT:NDUFV3:Pro4Ser	PROT:P56181	NDUFV3	P	4	S	P4S	Likely benign	0	1	1	101
MUT:NEB:Ala1010Thr	PROT:P20929	NEB	A	1010	T	A1010T	Likely benign	0	1	10	855
MUT:NEB:Ala1070Gly	PROT:P20929	NEB	A	1070	G	A1070G	Likely benign	0	1	10	795
MUT:NEB:Ala1075Asp	PROT:P20929	NEB	A	1075	D	A1075D	Likely benign	0	1	10	790
MUT:NEB:Ala1083Val	PROT:P20929	NEB	A	1083	V	A1083V	Benign	0	1	10	782
MUT:NEB:Ala114Val	PROT:P20929	NEB	A	114	V	A114V	Likely benign	0	1	10	1751
MUT:NEB:Ala1288Ser	PROT:P20929	NEB	A	1288	S	A1288S	Likely benign	0	1	10	577
MUT:NEB:Ala1396Val	PROT:P20929	NEB	A	1396	V	A1396V	Likely benign	0	1	10	469
MUT:NEB:Ala1647Thr	PROT:P20929	NEB	A	1647	T	A1647T	Likely benign	0	1	10	218
MUT:NEB:Ala1728Thr	PROT:P20929	NEB	A	1728	T	A1728T	Likely benign	0	1	10	137
MUT:NEB:Ala1881Thr	PROT:P20929	NEB	A	1881	T	A1881T	Likely benign	0	1	10	16
MUT:NEB:Ala1888Val	PROT:P20929	NEB	A	1888	V	A1888V	Likely benign	0	1	10	23
MUT:NEB:Ala1999Val	PROT:P20929	NEB	A	1999	V	A1999V	Likely benign	0	1	10	3
MUT:NEB:Ala2018Thr	PROT:P20929	NEB	A	2018	T	A2018T	Likely benign	0	1	10	16
MUT:NEB:Ala2052Asp	PROT:P20929	NEB	A	2052	D	A2052D	Likely benign	0	1	10	50
MUT:NEB:Ala2054Ser	PROT:P20929	NEB	A	2054	S	A2054S	Likely benign	0	1	10	52
MUT:NEB:Ala2130Asp	PROT:P20929	NEB	A	2130	D	A2130D	Likely benign	0	1	10	128
MUT:NEB:Ala2298Val	PROT:P20929	NEB	A	2298	V	A2298V	Likely benign	0	1	10	296
MUT:NEB:Ala2505Glu	PROT:P20929	NEB	A	2505	E	A2505E	Benign/Likely benign	0	1	10	503
MUT:NEB:Ala2765Thr	PROT:P20929	NEB	A	2765	T	A2765T	Likely benign	0	1	10	717
MUT:NEB:Ala2958Val	PROT:P20929	NEB	A	2958	V	A2958V	Likely benign	0	1	10	524
MUT:NEB:Ala3251Glu	PROT:P20929	NEB	A	3251	E	A3251E	Likely benign	0	1	10	231
MUT:NEB:Ala3262Thr	PROT:P20929	NEB	A	3262	T	A3262T	Likely benign	0	1	10	220
MUT:NEB:Ala339Thr	PROT:P20929	NEB	A	339	T	A339T	Likely benign	0	1	10	1526
MUT:NEB:Ala4223Thr	PROT:P20929	NEB	A	4223	T	A4223T	Benign/Likely benign	0	1	10	695
MUT:NEB:Ala514Gly	PROT:P20929	NEB	A	514	G	A514G	Likely benign	0	1	10	1351
MUT:NEB:Ala5484Thr	PROT:P20929	NEB	A	5484	T	A5484T	Benign/Likely benign	0	1	10	230
MUT:NEB:Ala5756Thr	PROT:P20929	NEB	A	5756	T	A5756T	Likely benign	0	1	10	444
MUT:NEB:Ala5775Thr	PROT:P20929	NEB	A	5775	T	A5775T	Likely benign	0	1	10	425
MUT:NEB:Ala6094Ser	PROT:P20929	NEB	A	6094	S	A6094S	Likely benign	0	1	10	106
MUT:NEB:Ala6231Glu	PROT:P20929	NEB	A	6231	E	A6231E	Likely benign	0	1	10	14
MUT:NEB:Ala6231Thr	PROT:P20929	NEB	A	6231	T	A6231T	Likely benign	0	1	10	14
MUT:NEB:Ala6429Asp	PROT:P20929	NEB	A	6429	D	A6429D	Benign/Likely benign	0	1	10	101
MUT:NEB:Ala6429Thr	PROT:P20929	NEB	A	6429	T	A6429T	Benign/Likely benign	0	1	10	101
MUT:NEB:Ala6642Val	PROT:P20929	NEB	A	6642	V	A6642V	Likely benign	0	1	10	314
MUT:NEB:Ala6695Pro	PROT:P20929	NEB	A	6695	P	A6695P	Likely benign	0	1	10	367
MUT:NEB:Ala6865Thr	PROT:P20929	NEB	A	6865	T	A6865T	Likely benign	0	1	10	537
MUT:NEB:Ala6910Thr	PROT:P20929	NEB	A	6910	T	A6910T	Likely benign	0	1	10	582
MUT:NEB:Ala697Ser	PROT:P20929	NEB	A	697	S	A697S	Likely benign	0	1	10	1168
MUT:NEB:Ala7230Val	PROT:P20929	NEB	A	7230	V	A7230V	Likely benign	0	1	10	902
MUT:NEB:Ala7236Pro	PROT:P20929	NEB	A	7236	P	A7236P	Likely benign	0	1	10	908
MUT:NEB:Ala728Val	PROT:P20929	NEB	A	728	V	A728V	Likely benign	0	1	10	1137
MUT:NEB:Ala7306Thr	PROT:P20929	NEB	A	7306	T	A7306T	Likely benign	0	1	10	978
MUT:NEB:Ala7449Ser	PROT:P20929	NEB	A	7449	S	A7449S	Likely benign	0	1	10	1121
MUT:NEB:Ala751Val	PROT:P20929	NEB	A	751	V	A751V	Likely benign	0	1	10	1114
MUT:NEB:Ala7528Thr	PROT:P20929	NEB	A	7528	T	A7528T	Likely benign	0	1	10	1200
MUT:NEB:Ala8145Pro	PROT:P20929	NEB	A	8145	P	A8145P	Benign	0	2	10	1817
MUT:NEB:Ala8480Ser	PROT:P20929	NEB	A	8480	S	A8480S	Likely benign	0	1	10	2152
MUT:NEB:Arg1080Lys	PROT:P20929	NEB	R	1080	K	R1080K	Likely benign	0	1	10	785
MUT:NEB:Arg124Thr	PROT:P20929	NEB	R	124	T	R124T	Likely benign	0	1	10	1741
MUT:NEB:Arg1298Gln	PROT:P20929	NEB	R	1298	Q	R1298Q	Likely benign	0	1	10	567
MUT:NEB:Arg1298Trp	PROT:P20929	NEB	R	1298	W	R1298W	Benign	0	1	10	567
MUT:NEB:Arg1856Gln	PROT:P20929	NEB	R	1856	Q	R1856Q	Benign/Likely benign	0	1	10	9
MUT:NEB:Arg1894Trp	PROT:P20929	NEB	R	1894	W	R1894W	Likely benign	0	1	10	29
MUT:NEB:Arg2056Gly	PROT:P20929	NEB	R	2056	G	R2056G	Benign/Likely benign	0	2	10	54
MUT:NEB:Arg2079Cys	PROT:P20929	NEB	R	2079	C	R2079C	Likely benign	0	1	10	77
MUT:NEB:Arg2079His	PROT:P20929	NEB	R	2079	H	R2079H	Likely benign	0	1	10	77
MUT:NEB:Arg2157Gly	PROT:P20929	NEB	R	2157	G	R2157G	Likely benign	0	1	10	155
MUT:NEB:Arg2437Gln	PROT:P20929	NEB	R	2437	Q	R2437Q	Benign/Likely benign	0	1	10	435
MUT:NEB:Arg2773Gln	PROT:P20929	NEB	R	2773	Q	R2773Q	Benign	0	5	10	709
MUT:NEB:Arg2939Thr	PROT:P20929	NEB	R	2939	T	R2939T	Likely benign	0	1	10	543
MUT:NEB:Arg3488Cys	PROT:P20929	NEB	R	3488	C	R3488C	Likely benign	0	1	10	6
MUT:NEB:Arg3488His	PROT:P20929	NEB	R	3488	H	R3488H	Benign	0	1	10	6
MUT:NEB:Arg3538Gln	PROT:P20929	NEB	R	3538	Q	R3538Q	Likely benign	0	1	10	56
MUT:NEB:Arg3559Gly	PROT:P20929	NEB	R	3559	G	R3559G	Likely pathogenic	1	1	10	77
MUT:NEB:Arg373Gly	PROT:P20929	NEB	R	373	G	R373G	Likely benign	0	1	10	1492
MUT:NEB:Arg3781Trp	PROT:P20929	NEB	R	3781	W	R3781W	Likely benign	0	2	10	299
MUT:NEB:Arg3906Cys	PROT:P20929	NEB	R	3906	C	R3906C	Likely benign	0	1	10	424
MUT:NEB:Arg5607Gln	PROT:P20929	NEB	R	5607	Q	R5607Q	Benign	0	1	10	353
MUT:NEB:Arg5607Trp	PROT:P20929	NEB	R	5607	W	R5607W	Likely benign	0	1	10	353
MUT:NEB:Arg5882Gly	PROT:P20929	NEB	R	5882	G	R5882G	Likely benign	0	1	10	318
MUT:NEB:Arg6102Thr	PROT:P20929	NEB	R	6102	T	R6102T	Benign	0	2	10	98
MUT:NEB:Arg6723Gln	PROT:P20929	NEB	R	6723	Q	R6723Q	Likely benign	0	1	10	395
MUT:NEB:Arg6743Cys	PROT:P20929	NEB	R	6743	C	R6743C	Likely benign	0	1	10	415
MUT:NEB:Arg6816Trp	PROT:P20929	NEB	R	6816	W	R6816W	Likely benign	0	1	10	488
MUT:NEB:Arg6884Gly	PROT:P20929	NEB	R	6884	G	R6884G	Likely benign	0	1	10	556
MUT:NEB:Arg6966His	PROT:P20929	NEB	R	6966	H	R6966H	Likely benign	0	1	10	638
MUT:NEB:Arg7124Cys	PROT:P20929	NEB	R	7124	C	R7124C	Likely benign	0	1	10	796
MUT:NEB:Arg7373Gln	PROT:P20929	NEB	R	7373	Q	R7373Q	Likely benign	0	1	10	1045
MUT:NEB:Arg7684Cys	PROT:P20929	NEB	R	7684	C	R7684C	Likely benign	0	1	10	1356
MUT:NEB:Arg7737Thr	PROT:P20929	NEB	R	7737	T	R7737T	Likely benign	0	1	10	1409
MUT:NEB:Arg7809Gln	PROT:P20929	NEB	R	7809	Q	R7809Q	Likely benign	0	1	10	1481
MUT:NEB:Arg7809Trp	PROT:P20929	NEB	R	7809	W	R7809W	Likely benign	0	1	10	1481
MUT:NEB:Arg7904His	PROT:P20929	NEB	R	7904	H	R7904H	Likely benign	0	1	10	1576
MUT:NEB:Arg7997Gln	PROT:P20929	NEB	R	7997	Q	R7997Q	Likely benign	0	1	10	1669
MUT:NEB:Arg8059Gly	PROT:P20929	NEB	R	8059	G	R8059G	Likely benign	0	1	10	1731
MUT:NEB:Arg8217Cys	PROT:P20929	NEB	R	8217	C	R8217C	Likely benign	0	1	10	1889
MUT:NEB:Arg8287Trp	PROT:P20929	NEB	R	8287	W	R8287W	Likely benign	0	1	10	1959
MUT:NEB:Arg8316Gln	PROT:P20929	NEB	R	8316	Q	R8316Q	Likely benign	0	1	10	1988
MUT:NEB:Arg8377Gln	PROT:P20929	NEB	R	8377	Q	R8377Q	Likely benign	0	1	10	2049
MUT:NEB:Arg8446Gln	PROT:P20929	NEB	R	8446	Q	R8446Q	Likely benign	0	1	10	2118
MUT:NEB:Arg883Gln	PROT:P20929	NEB	R	883	Q	R883Q	Likely benign	0	1	10	982
MUT:NEB:Arg985His	PROT:P20929	NEB	R	985	H	R985H	Likely benign	0	1	10	880
MUT:NEB:Asn1029His	PROT:P20929	NEB	N	1029	H	N1029H	Likely benign	0	1	10	836
MUT:NEB:Asn1138Asp	PROT:P20929	NEB	N	1138	D	N1138D	Benign	0	1	10	727
MUT:NEB:Asn1402Asp	PROT:P20929	NEB	N	1402	D	N1402D	Likely benign	0	1	10	463
MUT:NEB:Asn2131Ile	PROT:P20929	NEB	N	2131	I	N2131I	Likely benign	0	1	10	129
MUT:NEB:Asn3005Lys	PROT:P20929	NEB	N	3005	K	N3005K	Benign	0	1	10	477
MUT:NEB:Asn3238Ile	PROT:P20929	NEB	N	3238	I	N3238I	Likely benign	0	1	10	244
MUT:NEB:Asn5834Ser	PROT:P20929	NEB	N	5834	S	N5834S	Likely benign	0	1	10	366
MUT:NEB:Asn6038Ser	PROT:P20929	NEB	N	6038	S	N6038S	Benign/Likely benign	0	1	10	162
MUT:NEB:Asn6119Ser	PROT:P20929	NEB	N	6119	S	N6119S	Likely benign	0	1	10	81
MUT:NEB:Asn7702Ser	PROT:P20929	NEB	N	7702	S	N7702S	Likely benign	0	1	10	1374
MUT:NEB:Asn7730Ser	PROT:P20929	NEB	N	7730	S	N7730S	Benign	0	1	10	1402
MUT:NEB:Asn8187Lys	PROT:P20929	NEB	N	8187	K	N8187K	Likely benign	0	1	10	1859
MUT:NEB:Asn8252Asp	PROT:P20929	NEB	N	8252	D	N8252D	Likely benign	0	1	10	1924
MUT:NEB:Asn8373Lys	PROT:P20929	NEB	N	8373	K	N8373K	Likely benign	0	1	10	2045
MUT:NEB:Asn953Lys	PROT:P20929	NEB	N	953	K	N953K	Likely benign	0	1	10	912
MUT:NEB:Asn953Ser	PROT:P20929	NEB	N	953	S	N953S	Likely benign	0	1	10	912
MUT:NEB:Asn980Ser	PROT:P20929	NEB	N	980	S	N980S	Likely benign	0	1	10	885
MUT:NEB:Asp1091Tyr	PROT:P20929	NEB	D	1091	Y	D1091Y	Likely benign	0	1	10	774
MUT:NEB:Asp1212Glu	PROT:P20929	NEB	D	1212	E	D1212E	Likely benign	0	1	10	653
MUT:NEB:Asp1417Glu	PROT:P20929	NEB	D	1417	E	D1417E	Likely benign	0	1	10	448
MUT:NEB:Asp1465Asn	PROT:P20929	NEB	D	1465	N	D1465N	Likely benign	0	1	10	400
MUT:NEB:Asp1768Ala	PROT:P20929	NEB	D	1768	A	D1768A	Likely benign	0	1	10	97
MUT:NEB:Asp2009His	PROT:P20929	NEB	D	2009	H	D2009H	Likely benign	0	1	10	7
MUT:NEB:Asp2118Asn	PROT:P20929	NEB	D	2118	N	D2118N	Likely benign	0	1	10	116
MUT:NEB:Asp2485Asn	PROT:P20929	NEB	D	2485	N	D2485N	Likely benign	0	1	10	483
MUT:NEB:Asp2730Gly	PROT:P20929	NEB	D	2730	G	D2730G	Benign	0	2	10	728
MUT:NEB:Asp2917Tyr	PROT:P20929	NEB	D	2917	Y	D2917Y	Likely benign	0	1	10	565
MUT:NEB:Asp2973Ala	PROT:P20929	NEB	D	2973	A	D2973A	Likely benign	0	1	10	509
MUT:NEB:Asp3018Asn	PROT:P20929	NEB	D	3018	N	D3018N	Benign/Likely benign	0	1	10	464
MUT:NEB:Asp305Gly	PROT:P20929	NEB	D	305	G	D305G	Benign/Likely benign	0	1	10	1560
MUT:NEB:Asp3214Glu	PROT:P20929	NEB	D	3214	E	D3214E	Likely benign	0	1	10	268
MUT:NEB:Asp3504Gly	PROT:P20929	NEB	D	3504	G	D3504G	Likely benign	0	1	10	22
MUT:NEB:Asp3659Gly	PROT:P20929	NEB	D	3659	G	D3659G	Likely benign	0	1	10	177
MUT:NEB:Asp3727Glu	PROT:P20929	NEB	D	3727	E	D3727E	Benign	0	2	10	245
MUT:NEB:Asp3910Gly	PROT:P20929	NEB	D	3910	G	D3910G	Benign/Likely benign	0	1	10	428
MUT:NEB:Asp3919His	PROT:P20929	NEB	D	3919	H	D3919H	Likely benign	0	1	10	437
MUT:NEB:Asp3990Ala	PROT:P20929	NEB	D	3990	A	D3990A	Likely pathogenic	1	1	10	508
MUT:NEB:Asp4106Asn	PROT:P20929	NEB	D	4106	N	D4106N	Likely benign	0	2	10	624
MUT:NEB:Asp4539Asn	PROT:P20929	NEB	D	4539	N	D4539N	Likely benign	0	1	10	379
MUT:NEB:Asp465Gly	PROT:P20929	NEB	D	465	G	D465G	Likely benign	0	1	10	1400
MUT:NEB:Asp498Gly	PROT:P20929	NEB	D	498	G	D498G	Likely pathogenic	1	3	10	1367
MUT:NEB:Asp5201Gly	PROT:P20929	NEB	D	5201	G	D5201G	Likely benign	0	1	10	53
MUT:NEB:Asp5712Gly	PROT:P20929	NEB	D	5712	G	D5712G	Benign	0	1	10	458
MUT:NEB:Asp5877Asn	PROT:P20929	NEB	D	5877	N	D5877N	Likely benign	0	1	10	323
MUT:NEB:Asp5911Glu	PROT:P20929	NEB	D	5911	E	D5911E	Likely benign	0	1	10	289
MUT:NEB:Asp6074Val	PROT:P20929	NEB	D	6074	V	D6074V	Likely benign	0	1	10	126
MUT:NEB:Asp6141Glu	PROT:P20929	NEB	D	6141	E	D6141E	Likely benign	0	1	10	59
MUT:NEB:Asp6302Asn	PROT:P20929	NEB	D	6302	N	D6302N	Likely benign	0	1	10	22
MUT:NEB:Asp6328Asn	PROT:P20929	NEB	D	6328	N	D6328N	Likely benign	0	1	10	0
MUT:NEB:Asp6476Asn	PROT:P20929	NEB	D	6476	N	D6476N	Likely benign	0	1	10	148
MUT:NEB:Asp6504Val	PROT:P20929	NEB	D	6504	V	D6504V	Likely benign	0	1	10	176
MUT:NEB:Asp6731Val	PROT:P20929	NEB	D	6731	V	D6731V	Benign	0	1	10	403
MUT:NEB:Asp7030Glu	PROT:P20929	NEB	D	7030	E	D7030E	Likely benign	0	1	10	702
MUT:NEB:Asp7116Asn	PROT:P20929	NEB	D	7116	N	D7116N	Likely benign	0	1	10	788
MUT:NEB:Asp7194Asn	PROT:P20929	NEB	D	7194	N	D7194N	Likely benign	0	1	10	866
MUT:NEB:Asp7238Asn	PROT:P20929	NEB	D	7238	N	D7238N	Likely benign	0	1	10	910
MUT:NEB:Asp7264Glu	PROT:P20929	NEB	D	7264	E	D7264E	Likely benign	0	1	10	936
MUT:NEB:Asp7286Asn	PROT:P20929	NEB	D	7286	N	D7286N	Benign	0	1	10	958
MUT:NEB:Asp7584Asn	PROT:P20929	NEB	D	7584	N	D7584N	Likely benign	0	1	10	1256
MUT:NEB:Asp7678Glu	PROT:P20929	NEB	D	7678	E	D7678E	Benign	0	1	10	1350
MUT:NEB:Asp8323Asn	PROT:P20929	NEB	D	8323	N	D8323N	Likely benign	0	1	10	1995
MUT:NEB:Asp8347His	PROT:P20929	NEB	D	8347	H	D8347H	Likely benign	0	1	10	2019
MUT:NEB:Asp929Asn	PROT:P20929	NEB	D	929	N	D929N	Likely benign	0	1	10	936
MUT:NEB:Asp929Gly	PROT:P20929	NEB	D	929	G	D929G	Likely benign	0	1	10	936
MUT:NEB:Cys3042Arg	PROT:P20929	NEB	C	3042	R	C3042R	Benign	0	2	10	440
MUT:NEB:Cys6222Tyr	PROT:P20929	NEB	C	6222	Y	C6222Y	Likely benign	0	1	10	5
MUT:NEB:Cys7119Tyr	PROT:P20929	NEB	C	7119	Y	C7119Y	Benign	0	1	10	791
MUT:NEB:Gln1081Lys	PROT:P20929	NEB	Q	1081	K	Q1081K	Likely benign	0	1	10	784
MUT:NEB:Gln1121His	PROT:P20929	NEB	Q	1121	H	Q1121H	Likely benign	0	1	10	744
MUT:NEB:Gln1494Arg	PROT:P20929	NEB	Q	1494	R	Q1494R	Benign	0	1	10	371
MUT:NEB:Gln1776Lys	PROT:P20929	NEB	Q	1776	K	Q1776K	Likely benign	0	1	10	89
MUT:NEB:Gln2012His	PROT:P20929	NEB	Q	2012	H	Q2012H	Likely benign	0	1	10	10
MUT:NEB:Gln487Leu	PROT:P20929	NEB	Q	487	L	Q487L	Likely benign	0	1	10	1378
MUT:NEB:Gln6275Glu	PROT:P20929	NEB	Q	6275	E	Q6275E	Likely benign	0	1	10	49
MUT:NEB:Gln6432Arg	PROT:P20929	NEB	Q	6432	R	Q6432R	Benign/Likely benign	0	1	10	104
MUT:NEB:Gln7493His	PROT:P20929	NEB	Q	7493	H	Q7493H	Pathogenic/Likely pathogenic	1	1	10	1165
MUT:NEB:Gln8058Arg	PROT:P20929	NEB	Q	8058	R	Q8058R	Likely benign	0	1	10	1730
MUT:NEB:Glu1214Lys	PROT:P20929	NEB	E	1214	K	E1214K	Likely benign	0	1	10	651
MUT:NEB:Glu1422Ala	PROT:P20929	NEB	E	1422	A	E1422A	Likely benign	0	1	10	443
MUT:NEB:Glu1469Asp	PROT:P20929	NEB	E	1469	D	E1469D	Benign	0	1	10	396
MUT:NEB:Glu1709Gln	PROT:P20929	NEB	E	1709	Q	E1709Q	Likely benign	0	1	10	156
MUT:NEB:Glu1838Ala	PROT:P20929	NEB	E	1838	A	E1838A	Likely benign	0	1	10	27
MUT:NEB:Glu1990Lys	PROT:P20929	NEB	E	1990	K	E1990K	Benign/Likely benign	0	2	10	12
MUT:NEB:Glu2676Lys	PROT:P20929	NEB	E	2676	K	E2676K	Likely benign	0	1	10	674
MUT:NEB:Glu3007Lys	PROT:P20929	NEB	E	3007	K	E3007K	Likely benign	0	1	10	475
MUT:NEB:Glu3116Lys	PROT:P20929	NEB	E	3116	K	E3116K	Likely benign	0	1	10	366
MUT:NEB:Glu314Lys	PROT:P20929	NEB	E	314	K	E314K	Likely benign	0	1	10	1551
MUT:NEB:Glu353Asp	PROT:P20929	NEB	E	353	D	E353D	Likely benign	0	1	10	1512
MUT:NEB:Glu3922Asp	PROT:P20929	NEB	E	3922	D	E3922D	Likely benign	0	1	10	440
MUT:NEB:Glu6859Gln	PROT:P20929	NEB	E	6859	Q	E6859Q	Likely benign	0	1	10	531
MUT:NEB:Glu7147Lys	PROT:P20929	NEB	E	7147	K	E7147K	Likely benign	0	1	10	819
MUT:NEB:Glu7411Lys	PROT:P20929	NEB	E	7411	K	E7411K	Likely benign	0	1	10	1083
MUT:NEB:Glu7417Gln	PROT:P20929	NEB	E	7417	Q	E7417Q	Likely benign	0	1	10	1089
MUT:NEB:Glu7468Ala	PROT:P20929	NEB	E	7468	A	E7468A	Likely benign	0	1	10	1140
MUT:NEB:Glu7605Lys	PROT:P20929	NEB	E	7605	K	E7605K	Likely benign	0	1	10	1277
MUT:NEB:Glu7637Val	PROT:P20929	NEB	E	7637	V	E7637V	Likely benign	0	1	10	1309
MUT:NEB:Glu7804Lys	PROT:P20929	NEB	E	7804	K	E7804K	Likely benign	0	1	10	1476
MUT:NEB:Glu7888Lys	PROT:P20929	NEB	E	7888	K	E7888K	Likely benign	0	1	10	1560
MUT:NEB:Glu8012Gln	PROT:P20929	NEB	E	8012	Q	E8012Q	Likely benign	0	1	10	1684
MUT:NEB:Glu8220Asp	PROT:P20929	NEB	E	8220	D	E8220D	Likely benign	0	1	10	1892
MUT:NEB:Glu8410Lys	PROT:P20929	NEB	E	8410	K	E8410K	Likely benign	0	1	10	2082
MUT:NEB:Gly110Ala	PROT:P20929	NEB	G	110	A	G110A	Likely benign	0	1	10	1755
MUT:NEB:Gly1385Glu	PROT:P20929	NEB	G	1385	E	G1385E	Likely benign	0	1	10	480
MUT:NEB:Gly1446Asp	PROT:P20929	NEB	G	1446	D	G1446D	Likely benign	0	1	10	419
MUT:NEB:Gly1446Val	PROT:P20929	NEB	G	1446	V	G1446V	Likely pathogenic	1	2	10	419
MUT:NEB:Gly1448Ala	PROT:P20929	NEB	G	1448	A	G1448A	Likely benign	0	1	10	417
MUT:NEB:Gly1448Arg	PROT:P20929	NEB	G	1448	R	G1448R	Benign	0	1	10	417
MUT:NEB:Gly1617Asp	PROT:P20929	NEB	G	1617	D	G1617D	Likely benign	0	1	10	248
MUT:NEB:Gly1861Arg	PROT:P20929	NEB	G	1861	R	G1861R	Likely benign	0	1	10	4
MUT:NEB:Gly2311Ala	PROT:P20929	NEB	G	2311	A	G2311A	Likely benign	0	1	10	309
MUT:NEB:Gly2317Ala	PROT:P20929	NEB	G	2317	A	G2317A	Likely benign	0	1	10	315
MUT:NEB:Gly2761Ser	PROT:P20929	NEB	G	2761	S	G2761S	Likely benign	0	1	10	721
MUT:NEB:Gly340Asp	PROT:P20929	NEB	G	340	D	G340D	Likely benign	0	1	10	1525
MUT:NEB:Gly3879Val	PROT:P20929	NEB	G	3879	V	G3879V	Likely benign	0	1	10	397
MUT:NEB:Gly5926Asp	PROT:P20929	NEB	G	5926	D	G5926D	Likely benign	0	1	10	274
MUT:NEB:Gly6661Arg	PROT:P20929	NEB	G	6661	R	G6661R	Likely benign	0	1	10	333
MUT:NEB:Gly6697Arg	PROT:P20929	NEB	G	6697	R	G6697R	Benign/Likely benign	0	1	10	369
MUT:NEB:Gly683Asp	PROT:P20929	NEB	G	683	D	G683D	Likely benign	0	1	10	1182
MUT:NEB:Gly7118Arg	PROT:P20929	NEB	G	7118	R	G7118R	Likely benign	0	1	10	790
MUT:NEB:Gly7188Val	PROT:P20929	NEB	G	7188	V	G7188V	Likely benign	0	1	10	860
MUT:NEB:Gly7292Asp	PROT:P20929	NEB	G	7292	D	G7292D	Likely benign	0	1	10	964
MUT:NEB:Gly7635Glu	PROT:P20929	NEB	G	7635	E	G7635E	Benign	0	4	10	1307
MUT:NEB:Gly7687Asp	PROT:P20929	NEB	G	7687	D	G7687D	Likely benign	0	1	10	1359
MUT:NEB:Gly779Asp	PROT:P20929	NEB	G	779	D	G779D	Likely benign	0	1	10	1086
MUT:NEB:Gly8015Glu	PROT:P20929	NEB	G	8015	E	G8015E	Likely benign	0	1	10	1687
MUT:NEB:Gly8046Arg	PROT:P20929	NEB	G	8046	R	G8046R	Likely benign	0	1	10	1718
MUT:NEB:Gly8425Arg	PROT:P20929	NEB	G	8425	R	G8425R	Likely benign	0	1	10	2097
MUT:NEB:His1026Arg	PROT:P20929	NEB	H	1026	R	H1026R	Likely benign	0	1	10	839
MUT:NEB:His1026Tyr	PROT:P20929	NEB	H	1026	Y	H1026Y	Benign	0	1	10	839
MUT:NEB:His1343Gln	PROT:P20929	NEB	H	1343	Q	H1343Q	Likely benign	0	1	10	522
MUT:NEB:His1382Arg	PROT:P20929	NEB	H	1382	R	H1382R	Likely benign	0	1	10	483
MUT:NEB:His1991Tyr	PROT:P20929	NEB	H	1991	Y	H1991Y	Benign	0	2	10	11
MUT:NEB:His2249Pro	PROT:P20929	NEB	H	2249	P	H2249P	Likely benign	0	1	10	247
MUT:NEB:His2319Arg	PROT:P20929	NEB	H	2319	R	H2319R	Likely benign	0	1	10	317
MUT:NEB:His3221Gln	PROT:P20929	NEB	H	3221	Q	H3221Q	Likely benign	0	1	10	261
MUT:NEB:His3534Tyr	PROT:P20929	NEB	H	3534	Y	H3534Y	Likely benign	0	1	10	52
MUT:NEB:His4574Arg	PROT:P20929	NEB	H	4574	R	H4574R	Benign/Likely benign	0	1	10	344
MUT:NEB:His6075Arg	PROT:P20929	NEB	H	6075	R	H6075R	Likely benign	0	1	10	125
MUT:NEB:His6144Leu	PROT:P20929	NEB	H	6144	L	H6144L	Likely benign	0	1	10	56
MUT:NEB:His6221Pro	PROT:P20929	NEB	H	6221	P	H6221P	Likely benign	0	1	10	4
MUT:NEB:His6567Arg	PROT:P20929	NEB	H	6567	R	H6567R	Likely benign	0	1	10	239
MUT:NEB:His6909Tyr	PROT:P20929	NEB	H	6909	Y	H6909Y	Likely benign	0	1	10	581
MUT:NEB:His7117Asn	PROT:P20929	NEB	H	7117	N	H7117N	Likely benign	0	1	10	789
MUT:NEB:His7330Asp	PROT:P20929	NEB	H	7330	D	H7330D	Likely benign	0	1	10	1002
MUT:NEB:His7555Tyr	PROT:P20929	NEB	H	7555	Y	H7555Y	Likely benign	0	1	10	1227
MUT:NEB:His7578Asp	PROT:P20929	NEB	H	7578	D	H7578D	Likely benign	0	1	10	1250
MUT:NEB:His7772Arg	PROT:P20929	NEB	H	7772	R	H7772R	Likely benign	0	1	10	1444
MUT:NEB:His8062Gln	PROT:P20929	NEB	H	8062	Q	H8062Q	Benign	0	1	10	1734
MUT:NEB:His8301Asn	PROT:P20929	NEB	H	8301	N	H8301N	Likely benign	0	1	10	1973
MUT:NEB:His8380Gln	PROT:P20929	NEB	H	8380	Q	H8380Q	Likely benign	0	1	10	2052
MUT:NEB:Ile1001Val	PROT:P20929	NEB	I	1001	V	I1001V	Likely benign	0	1	10	864
MUT:NEB:Ile1452Thr	PROT:P20929	NEB	I	1452	T	I1452T	Likely benign	0	1	10	413
MUT:NEB:Ile1452Val	PROT:P20929	NEB	I	1452	V	I1452V	Likely benign	0	1	10	413
MUT:NEB:Ile1518Val	PROT:P20929	NEB	I	1518	V	I1518V	Likely benign	0	1	10	347
MUT:NEB:Ile157Val	PROT:P20929	NEB	I	157	V	I157V	Benign	0	1	10	1708
MUT:NEB:Ile1805Val	PROT:P20929	NEB	I	1805	V	I1805V	Likely benign	0	1	10	60
MUT:NEB:Ile2058Phe	PROT:P20929	NEB	I	2058	F	I2058F	Benign/Likely benign	0	1	10	56
MUT:NEB:Ile2239Met	PROT:P20929	NEB	I	2239	M	I2239M	Benign	0	1	10	237
MUT:NEB:Ile2500Val	PROT:P20929	NEB	I	2500	V	I2500V	Likely benign	0	1	10	498
MUT:NEB:Ile2779Val	PROT:P20929	NEB	I	2779	V	I2779V	Benign/Likely benign	0	1	10	703
MUT:NEB:Ile3156Asn	PROT:P20929	NEB	I	3156	N	I3156N	Benign/Likely benign	0	1	10	326
MUT:NEB:Ile323Asn	PROT:P20929	NEB	I	323	N	I323N	Likely benign	0	1	10	1542
MUT:NEB:Ile3265Leu	PROT:P20929	NEB	I	3265	L	I3265L	Likely benign	0	1	10	217
MUT:NEB:Ile3275Thr	PROT:P20929	NEB	I	3275	T	I3275T	Likely benign	0	1	10	207
MUT:NEB:Ile3674Val	PROT:P20929	NEB	I	3674	V	I3674V	Likely benign	0	1	10	192
MUT:NEB:Ile3992Val	PROT:P20929	NEB	I	3992	V	I3992V	Likely benign	0	1	10	510
MUT:NEB:Ile3994Phe	PROT:P20929	NEB	I	3994	F	I3994F	Likely benign	0	1	10	512
MUT:NEB:Ile5652Leu	PROT:P20929	NEB	I	5652	L	I5652L	Likely benign	0	1	10	398
MUT:NEB:Ile5928Phe	PROT:P20929	NEB	I	5928	F	I5928F	Likely benign	0	1	10	272
MUT:NEB:Ile6000Ser	PROT:P20929	NEB	I	6000	S	I6000S	Likely benign	0	1	10	200
MUT:NEB:Ile6286Met	PROT:P20929	NEB	I	6286	M	I6286M	Likely benign	0	1	10	38
MUT:NEB:Ile6294Thr	PROT:P20929	NEB	I	6294	T	I6294T	Likely benign	0	1	10	30
MUT:NEB:Ile6756Thr	PROT:P20929	NEB	I	6756	T	I6756T	Likely benign	0	1	10	428
MUT:NEB:Ile7016Phe	PROT:P20929	NEB	I	7016	F	I7016F	Likely benign	0	1	10	688
MUT:NEB:Ile786Met	PROT:P20929	NEB	I	786	M	I786M	Likely benign	0	1	10	1079
MUT:NEB:Ile7890Thr	PROT:P20929	NEB	I	7890	T	I7890T	Likely benign	0	1	10	1562
MUT:NEB:Ile8020Val	PROT:P20929	NEB	I	8020	V	I8020V	Likely benign	0	1	10	1692
MUT:NEB:Ile8053Val	PROT:P20929	NEB	I	8053	V	I8053V	Likely benign	0	1	10	1725
MUT:NEB:Ile8253Thr	PROT:P20929	NEB	I	8253	T	I8253T	Likely benign	0	1	10	1925
MUT:NEB:Ile8402Val	PROT:P20929	NEB	I	8402	V	I8402V	Benign	0	2	10	2074
MUT:NEB:Ile86Thr	PROT:P20929	NEB	I	86	T	I86T	Likely benign	0	1	10	1779
MUT:NEB:Ile892Val	PROT:P20929	NEB	I	892	V	I892V	Likely benign	0	1	10	973
MUT:NEB:Ile911Val	PROT:P20929	NEB	I	911	V	I911V	Likely benign	0	1	10	954
MUT:NEB:Ile996Asn	PROT:P20929	NEB	I	996	N	I996N	Likely benign	0	1	10	869
MUT:NEB:Ile996Thr	PROT:P20929	NEB	I	996	T	I996T	Likely benign	0	1	10	869
MUT:NEB:Leu1364Pro	PROT:P20929	NEB	L	1364	P	L1364P	Likely benign	0	1	10	501
MUT:NEB:Leu1522Phe	PROT:P20929	NEB	L	1522	F	L1522F	Likely benign	0	1	10	343
MUT:NEB:Leu1658Phe	PROT:P20929	NEB	L	1658	F	L1658F	Likely benign	0	1	10	207
MUT:NEB:Leu1876Phe	PROT:P20929	NEB	L	1876	F	L1876F	Likely benign	0	1	10	11
MUT:NEB:Leu1940Met	PROT:P20929	NEB	L	1940	M	L1940M	Likely benign	0	1	10	62
MUT:NEB:Leu1943Gln	PROT:P20929	NEB	L	1943	Q	L1943Q	Likely benign	0	1	10	59
MUT:NEB:Leu2953Ser	PROT:P20929	NEB	L	2953	S	L2953S	Likely benign	0	1	10	529
MUT:NEB:Leu3015Ser	PROT:P20929	NEB	L	3015	S	L3015S	Likely benign	0	1	10	467
MUT:NEB:Leu3045Phe	PROT:P20929	NEB	L	3045	F	L3045F	Likely benign	0	1	10	437
MUT:NEB:Leu3451Phe	PROT:P20929	NEB	L	3451	F	L3451F	Likely benign	0	1	10	31
MUT:NEB:Leu521Met	PROT:P20929	NEB	L	521	M	L521M	Likely benign	0	1	10	1344
MUT:NEB:Leu6028Ser	PROT:P20929	NEB	L	6028	S	L6028S	Likely benign	0	1	10	172
MUT:NEB:Leu6280Pro	PROT:P20929	NEB	L	6280	P	L6280P	Likely benign	0	1	10	44
MUT:NEB:Leu6404Val	PROT:P20929	NEB	L	6404	V	L6404V	Likely benign	0	1	10	76
MUT:NEB:Leu6725Phe	PROT:P20929	NEB	L	6725	F	L6725F	Likely benign	0	1	10	397
MUT:NEB:Leu672Ser	PROT:P20929	NEB	L	672	S	L672S	Likely benign	0	1	10	1193
MUT:NEB:Leu6806Gln	PROT:P20929	NEB	L	6806	Q	L6806Q	Likely benign	0	1	10	478
MUT:NEB:Leu7725Val	PROT:P20929	NEB	L	7725	V	L7725V	Likely benign	0	1	10	1397
MUT:NEB:Leu7952Phe	PROT:P20929	NEB	L	7952	F	L7952F	Likely benign	0	1	10	1624
MUT:NEB:Leu8045Arg	PROT:P20929	NEB	L	8045	R	L8045R	Likely benign	0	1	10	1717
MUT:NEB:Leu8257Ile	PROT:P20929	NEB	L	8257	I	L8257I	Likely benign	0	1	10	1929
MUT:NEB:Leu868Pro	PROT:P20929	NEB	L	868	P	L868P	Benign/Likely benign	0	1	10	997
MUT:NEB:Leu935Phe	PROT:P20929	NEB	L	935	F	L935F	Likely benign	0	1	10	930
MUT:NEB:Leu95Ile	PROT:P20929	NEB	L	95	I	L95I	Likely benign	0	1	10	1770
MUT:NEB:Lys1027Asn	PROT:P20929	NEB	K	1027	N	K1027N	Benign	0	2	10	838
MUT:NEB:Lys102Asn	PROT:P20929	NEB	K	102	N	K102N	Likely benign	0	1	10	1763
MUT:NEB:Lys1181Glu	PROT:P20929	NEB	K	1181	E	K1181E	Likely benign	0	1	10	684
MUT:NEB:Lys1227Gln	PROT:P20929	NEB	K	1227	Q	K1227Q	Likely benign	0	1	10	638
MUT:NEB:Lys1236Asn	PROT:P20929	NEB	K	1236	N	K1236N	Likely benign	0	1	10	629
MUT:NEB:Lys1378Arg	PROT:P20929	NEB	K	1378	R	K1378R	Likely benign	0	1	10	487
MUT:NEB:Lys1461Gln	PROT:P20929	NEB	K	1461	Q	K1461Q	Likely benign	0	1	10	404
MUT:NEB:Lys1575Asn	PROT:P20929	NEB	K	1575	N	K1575N	Likely benign	0	1	10	290
MUT:NEB:Lys1624Gln	PROT:P20929	NEB	K	1624	Q	K1624Q	Likely benign	0	1	10	241
MUT:NEB:Lys1821Thr	PROT:P20929	NEB	K	1821	T	K1821T	Likely benign	0	1	10	44
MUT:NEB:Lys1851Glu	PROT:P20929	NEB	K	1851	E	K1851E	Likely benign	0	1	10	14
MUT:NEB:Lys1860Arg	PROT:P20929	NEB	K	1860	R	K1860R	Likely benign	0	1	10	5
MUT:NEB:Lys1959Thr	PROT:P20929	NEB	K	1959	T	K1959T	Likely benign	0	1	10	43
MUT:NEB:Lys2063Arg	PROT:P20929	NEB	K	2063	R	K2063R	Likely benign	0	1	10	61
MUT:NEB:Lys2103Arg	PROT:P20929	NEB	K	2103	R	K2103R	Likely benign	0	1	10	101
MUT:NEB:Lys2402Arg	PROT:P20929	NEB	K	2402	R	K2402R	Likely benign	0	1	10	400
MUT:NEB:Lys2537Thr	PROT:P20929	NEB	K	2537	T	K2537T	Likely benign	0	1	10	535
MUT:NEB:Lys2613Asn	PROT:P20929	NEB	K	2613	N	K2613N	Benign	0	2	10	611
MUT:NEB:Lys288Arg	PROT:P20929	NEB	K	288	R	K288R	Benign	0	1	10	1577
MUT:NEB:Lys3009Gln	PROT:P20929	NEB	K	3009	Q	K3009Q	Likely benign	0	1	10	473
MUT:NEB:Lys3512Arg	PROT:P20929	NEB	K	3512	R	K3512R	Likely benign	0	1	10	30
MUT:NEB:Lys3522Gln	PROT:P20929	NEB	K	3522	Q	K3522Q	Likely benign	0	1	10	40
MUT:NEB:Lys3670Thr	PROT:P20929	NEB	K	3670	T	K3670T	Likely benign	0	1	10	188
MUT:NEB:Lys4543Thr	PROT:P20929	NEB	K	4543	T	K4543T	Benign/Likely benign	0	1	10	375
MUT:NEB:Lys494Asn	PROT:P20929	NEB	K	494	N	K494N	Likely benign	0	1	10	1371
MUT:NEB:Lys529Glu	PROT:P20929	NEB	K	529	E	K529E	Likely benign	0	1	10	1336
MUT:NEB:Lys5916Arg	PROT:P20929	NEB	K	5916	R	K5916R	Benign/Likely benign	0	2	10	284
MUT:NEB:Lys619Arg	PROT:P20929	NEB	K	619	R	K619R	Benign/Likely benign	0	1	10	1246
MUT:NEB:Lys6308Arg	PROT:P20929	NEB	K	6308	R	K6308R	Likely benign	0	1	10	16
MUT:NEB:Lys6378Glu	PROT:P20929	NEB	K	6378	E	K6378E	Likely benign	0	1	10	50
MUT:NEB:Lys6535Arg	PROT:P20929	NEB	K	6535	R	K6535R	Likely benign	0	1	10	207
MUT:NEB:Lys6644Thr	PROT:P20929	NEB	K	6644	T	K6644T	Likely benign	0	1	10	316
MUT:NEB:Lys675Thr	PROT:P20929	NEB	K	675	T	K675T	Likely benign	0	1	10	1190
MUT:NEB:Lys6968Glu	PROT:P20929	NEB	K	6968	E	K6968E	Likely benign	0	1	10	640
MUT:NEB:Lys7106Arg	PROT:P20929	NEB	K	7106	R	K7106R	Likely benign	0	1	10	778
MUT:NEB:Lys7108Ile	PROT:P20929	NEB	K	7108	I	K7108I	Benign	0	1	10	780
MUT:NEB:Lys7144Arg	PROT:P20929	NEB	K	7144	R	K7144R	Likely benign	0	1	10	816
MUT:NEB:Lys7319Arg	PROT:P20929	NEB	K	7319	R	K7319R	Likely benign	0	1	10	991
MUT:NEB:Lys7319Thr	PROT:P20929	NEB	K	7319	T	K7319T	Likely benign	0	1	10	991
MUT:NEB:Lys7342Asn	PROT:P20929	NEB	K	7342	N	K7342N	Likely benign	0	1	10	1014
MUT:NEB:Lys7383Thr	PROT:P20929	NEB	K	7383	T	K7383T	Likely benign	0	1	10	1055
MUT:NEB:Lys7421Glu	PROT:P20929	NEB	K	7421	E	K7421E	Likely benign	0	1	10	1093
MUT:NEB:Lys7538Met	PROT:P20929	NEB	K	7538	M	K7538M	Likely benign	0	1	10	1210
MUT:NEB:Lys7668Glu	PROT:P20929	NEB	K	7668	E	K7668E	Likely benign	0	1	10	1340
MUT:NEB:Lys7721Thr	PROT:P20929	NEB	K	7721	T	K7721T	Likely benign	0	1	10	1393
MUT:NEB:Lys7867Gln	PROT:P20929	NEB	K	7867	Q	K7867Q	Benign	0	1	10	1539
MUT:NEB:Lys7980Asn	PROT:P20929	NEB	K	7980	N	K7980N	Likely benign	0	1	10	1652
MUT:NEB:Lys7985Glu	PROT:P20929	NEB	K	7985	E	K7985E	Likely benign	0	1	10	1657
MUT:NEB:Lys8488Arg	PROT:P20929	NEB	K	8488	R	K8488R	Likely benign	0	3	10	2160
MUT:NEB:Met1184Ile	PROT:P20929	NEB	M	1184	I	M1184I	Likely benign	0	1	10	681
MUT:NEB:Met1419Thr	PROT:P20929	NEB	M	1419	T	M1419T	Likely benign	0	1	10	446
MUT:NEB:Met1603Val	PROT:P20929	NEB	M	1603	V	M1603V	Likely benign	0	1	10	262
MUT:NEB:Met1729Thr	PROT:P20929	NEB	M	1729	T	M1729T	Likely benign	0	1	10	136
MUT:NEB:Met1729Val	PROT:P20929	NEB	M	1729	V	M1729V	Likely benign	0	1	10	136
MUT:NEB:Met1907Ile	PROT:P20929	NEB	M	1907	I	M1907I	Likely benign	0	1	10	42
MUT:NEB:Met2023Ile	PROT:P20929	NEB	M	2023	I	M2023I	Benign/Likely benign	0	1	10	21
MUT:NEB:Met2091Val	PROT:P20929	NEB	M	2091	V	M2091V	Likely benign	0	1	10	89
MUT:NEB:Met2159Arg	PROT:P20929	NEB	M	2159	R	M2159R	Likely benign	0	1	10	157
MUT:NEB:Met2708Val	PROT:P20929	NEB	M	2708	V	M2708V	Likely benign	0	1	10	706
MUT:NEB:Met2897Thr	PROT:P20929	NEB	M	2897	T	M2897T	Likely benign	0	1	10	585
MUT:NEB:Met2961Val	PROT:P20929	NEB	M	2961	V	M2961V	Likely benign	0	1	10	521
MUT:NEB:Met2991Arg	PROT:P20929	NEB	M	2991	R	M2991R	Likely benign	0	1	10	491
MUT:NEB:Met319Leu	PROT:P20929	NEB	M	319	L	M319L	Likely benign	0	1	10	1546
MUT:NEB:Met3716Ile	PROT:P20929	NEB	M	3716	I	M3716I	Benign	0	1	10	234
MUT:NEB:Met447Val	PROT:P20929	NEB	M	447	V	M447V	Likely benign	0	1	10	1418
MUT:NEB:Met6006Thr	PROT:P20929	NEB	M	6006	T	M6006T	Likely benign	0	1	10	194
MUT:NEB:Met6499Thr	PROT:P20929	NEB	M	6499	T	M6499T	Likely benign	0	1	10	171
MUT:NEB:Met685Val	PROT:P20929	NEB	M	685	V	M685V	Likely benign	0	1	10	1180
MUT:NEB:Met694Val	PROT:P20929	NEB	M	694	V	M694V	Likely benign	0	1	10	1171
MUT:NEB:Met7475Thr	PROT:P20929	NEB	M	7475	T	M7475T	Likely benign	0	1	10	1147
MUT:NEB:Met7615Thr	PROT:P20929	NEB	M	7615	T	M7615T	Likely benign	0	1	10	1287
MUT:NEB:Met8026Ile	PROT:P20929	NEB	M	8026	I	M8026I	Likely benign	0	1	10	1698
MUT:NEB:Met8088Ile	PROT:P20929	NEB	M	8088	I	M8088I	Benign	0	1	10	1760
MUT:NEB:Phe1525Leu	PROT:P20929	NEB	F	1525	L	F1525L	Likely benign	0	1	10	340
MUT:NEB:Phe407Leu	PROT:P20929	NEB	F	407	L	F407L	Likely benign	0	1	10	1458
MUT:NEB:Phe470Cys	PROT:P20929	NEB	F	470	C	F470C	Likely benign	0	1	10	1395
MUT:NEB:Phe471Leu	PROT:P20929	NEB	F	471	L	F471L	Likely benign	0	1	10	1394
MUT:NEB:Phe8005Cys	PROT:P20929	NEB	F	8005	C	F8005C	Likely benign	0	1	10	1677
MUT:NEB:Phe8036Leu	PROT:P20929	NEB	F	8036	L	F8036L	Likely benign	0	1	10	1708
MUT:NEB:Phe8324Leu	PROT:P20929	NEB	F	8324	L	F8324L	Likely benign	0	1	10	1996
MUT:NEB:Pro1276Thr	PROT:P20929	NEB	P	1276	T	P1276T	Benign/Likely benign	0	1	10	589
MUT:NEB:Pro1800Ser	PROT:P20929	NEB	P	1800	S	P1800S	Likely benign	0	1	10	65
MUT:NEB:Pro1872Ala	PROT:P20929	NEB	P	1872	A	P1872A	Likely benign	0	1	10	7
MUT:NEB:Pro2048Thr	PROT:P20929	NEB	P	2048	T	P2048T	Likely benign	0	1	10	46
MUT:NEB:Pro225Leu	PROT:P20929	NEB	P	225	L	P225L	Likely benign	0	1	10	1640
MUT:NEB:Pro293Ser	PROT:P20929	NEB	P	293	S	P293S	Likely benign	0	1	10	1572
MUT:NEB:Pro331Arg	PROT:P20929	NEB	P	331	R	P331R	Likely benign	0	1	10	1534
MUT:NEB:Pro509Ser	PROT:P20929	NEB	P	509	S	P509S	Likely benign	0	1	10	1356
MUT:NEB:Pro541Arg	PROT:P20929	NEB	P	541	R	P541R	Benign	0	1	10	1324
MUT:NEB:Pro5609Arg	PROT:P20929	NEB	P	5609	R	P5609R	Likely benign	0	1	10	355
MUT:NEB:Pro6563Thr	PROT:P20929	NEB	P	6563	T	P6563T	Likely benign	0	1	10	235
MUT:NEB:Pro6845Thr	PROT:P20929	NEB	P	6845	T	P6845T	Likely benign	0	1	10	517
MUT:NEB:Pro6880His	PROT:P20929	NEB	P	6880	H	P6880H	Likely benign	0	1	10	552
MUT:NEB:Pro688Ser	PROT:P20929	NEB	P	688	S	P688S	Likely benign	0	1	10	1177
MUT:NEB:Pro6945Leu	PROT:P20929	NEB	P	6945	L	P6945L	Likely benign	0	1	10	617
MUT:NEB:Pro719Thr	PROT:P20929	NEB	P	719	T	P719T	Likely benign	0	1	10	1146
MUT:NEB:Pro8019Leu	PROT:P20929	NEB	P	8019	L	P8019L	Benign/Likely benign	0	1	10	1691
MUT:NEB:Pro896Leu	PROT:P20929	NEB	P	896	L	P896L	Likely benign	0	1	10	969
MUT:NEB:Ser1060Asn	PROT:P20929	NEB	S	1060	N	S1060N	Likely benign	0	1	10	805
MUT:NEB:Ser1292Gly	PROT:P20929	NEB	S	1292	G	S1292G	Pathogenic/Likely pathogenic	1	3	10	573
MUT:NEB:Ser1366Tyr	PROT:P20929	NEB	S	1366	Y	S1366Y	Likely benign	0	1	10	499
MUT:NEB:Ser1536Asn	PROT:P20929	NEB	S	1536	N	S1536N	Likely benign	0	1	10	329
MUT:NEB:Ser1610Pro	PROT:P20929	NEB	S	1610	P	S1610P	Likely benign	0	1	10	255
MUT:NEB:Ser164Leu	PROT:P20929	NEB	S	164	L	S164L	Likely benign	0	1	10	1701
MUT:NEB:Ser1652Pro	PROT:P20929	NEB	S	1652	P	S1652P	Likely benign	0	1	10	213
MUT:NEB:Ser1836Arg	PROT:P20929	NEB	S	1836	R	S1836R	Likely benign	0	1	10	29
MUT:NEB:Ser1836Gly	PROT:P20929	NEB	S	1836	G	S1836G	Likely benign	0	1	10	29
MUT:NEB:Ser2055Phe	PROT:P20929	NEB	S	2055	F	S2055F	Likely benign	0	1	10	53
MUT:NEB:Ser2359Thr	PROT:P20929	NEB	S	2359	T	S2359T	Likely benign	0	1	10	357
MUT:NEB:Ser2439Leu	PROT:P20929	NEB	S	2439	L	S2439L	Likely benign	0	1	10	437
MUT:NEB:Ser273Asn	PROT:P20929	NEB	S	273	N	S273N	Likely benign	0	1	10	1592
MUT:NEB:Ser2912Pro	PROT:P20929	NEB	S	2912	P	S2912P	Benign	0	2	10	570
MUT:NEB:Ser3240Thr	PROT:P20929	NEB	S	3240	T	S3240T	Likely benign	0	1	10	242
MUT:NEB:Ser3673Thr	PROT:P20929	NEB	S	3673	T	S3673T	Likely benign	0	1	10	191
MUT:NEB:Ser3948Phe	PROT:P20929	NEB	S	3948	F	S3948F	Likely benign	0	1	10	466
MUT:NEB:Ser3996Arg	PROT:P20929	NEB	S	3996	R	S3996R	Likely benign	0	1	10	514
MUT:NEB:Ser5588Thr	PROT:P20929	NEB	S	5588	T	S5588T	Benign	0	1	10	334
MUT:NEB:Ser5705Asn	PROT:P20929	NEB	S	5705	N	S5705N	Likely benign	0	1	10	451
MUT:NEB:Ser5947Asn	PROT:P20929	NEB	S	5947	N	S5947N	Likely benign	0	1	10	253
MUT:NEB:Ser6103Ile	PROT:P20929	NEB	S	6103	I	S6103I	Likely benign	0	1	10	97
MUT:NEB:Ser6366Ile	PROT:P20929	NEB	S	6366	I	S6366I	Pathogenic	1	2	10	38
MUT:NEB:Ser6541Arg	PROT:P20929	NEB	S	6541	R	S6541R	Likely benign	0	1	10	213
MUT:NEB:Ser6648Leu	PROT:P20929	NEB	S	6648	L	S6648L	Likely benign	0	1	10	320
MUT:NEB:Ser665Ile	PROT:P20929	NEB	S	665	I	S665I	Likely benign	0	1	10	1200
MUT:NEB:Ser7015Cys	PROT:P20929	NEB	S	7015	C	S7015C	Benign/Likely benign	0	8	10	687
MUT:NEB:Ser701Asn	PROT:P20929	NEB	S	701	N	S701N	Likely benign	0	1	10	1164
MUT:NEB:Ser7089Cys	PROT:P20929	NEB	S	7089	C	S7089C	Likely benign	0	1	10	761
MUT:NEB:Ser7275Cys	PROT:P20929	NEB	S	7275	C	S7275C	Likely benign	0	1	10	947
MUT:NEB:Ser7345Thr	PROT:P20929	NEB	S	7345	T	S7345T	Likely benign	0	1	10	1017
MUT:NEB:Ser755Cys	PROT:P20929	NEB	S	755	C	S755C	Likely benign	0	1	10	1110
MUT:NEB:Ser7634Gly	PROT:P20929	NEB	S	7634	G	S7634G	Likely benign	0	1	10	1306
MUT:NEB:Ser7781Cys	PROT:P20929	NEB	S	7781	C	S7781C	Likely benign	0	1	10	1453
MUT:NEB:Ser7794Leu	PROT:P20929	NEB	S	7794	L	S7794L	Benign/Likely benign	0	1	10	1466
MUT:NEB:Ser7852Leu	PROT:P20929	NEB	S	7852	L	S7852L	Likely benign	0	1	10	1524
MUT:NEB:Ser8006Gly	PROT:P20929	NEB	S	8006	G	S8006G	Likely benign	0	1	10	1678
MUT:NEB:Ser8007Leu	PROT:P20929	NEB	S	8007	L	S8007L	Benign	0	1	10	1679
MUT:NEB:Ser8069Leu	PROT:P20929	NEB	S	8069	L	S8069L	Likely benign	0	1	10	1741
MUT:NEB:Ser8223Asn	PROT:P20929	NEB	S	8223	N	S8223N	Likely benign	0	1	10	1895
MUT:NEB:Ser8398Arg	PROT:P20929	NEB	S	8398	R	S8398R	Likely benign	0	1	10	2070
MUT:NEB:Ser8403Asn	PROT:P20929	NEB	S	8403	N	S8403N	Likely benign	0	1	10	2075
MUT:NEB:Ser8448Phe	PROT:P20929	NEB	S	8448	F	S8448F	Likely benign	0	1	10	2120
MUT:NEB:Ser995Leu	PROT:P20929	NEB	S	995	L	S995L	Likely benign	0	1	10	870
MUT:NEB:Thr108Ala	PROT:P20929	NEB	T	108	A	T108A	Likely benign	0	1	10	1757
MUT:NEB:Thr146Ile	PROT:P20929	NEB	T	146	I	T146I	Likely benign	0	1	10	1719
MUT:NEB:Thr1867Ile	PROT:P20929	NEB	T	1867	I	T1867I	Likely benign	0	1	10	2
MUT:NEB:Thr1899Asn	PROT:P20929	NEB	T	1899	N	T1899N	Likely benign	0	1	10	34
MUT:NEB:Thr199Ala	PROT:P20929	NEB	T	199	A	T199A	Likely benign	0	1	10	1666
MUT:NEB:Thr254Met	PROT:P20929	NEB	T	254	M	T254M	Likely benign	0	1	10	1611
MUT:NEB:Thr2960Ile	PROT:P20929	NEB	T	2960	I	T2960I	Likely benign	0	1	10	522
MUT:NEB:Thr3210Ile	PROT:P20929	NEB	T	3210	I	T3210I	Likely benign	0	1	10	272
MUT:NEB:Thr3453Arg	PROT:P20929	NEB	T	3453	R	T3453R	Likely benign	0	1	10	29
MUT:NEB:Thr35Met	PROT:P20929	NEB	T	35	M	T35M	Likely benign	0	1	10	1830
MUT:NEB:Thr3668Met	PROT:P20929	NEB	T	3668	M	T3668M	Likely benign	0	1	10	186
MUT:NEB:Thr3696Ile	PROT:P20929	NEB	T	3696	I	T3696I	Likely benign	0	1	10	214
MUT:NEB:Thr3705Ser	PROT:P20929	NEB	T	3705	S	T3705S	Likely benign	0	1	10	223
MUT:NEB:Thr47Ala	PROT:P20929	NEB	T	47	A	T47A	Likely benign	0	1	10	1818
MUT:NEB:Thr5656Ser	PROT:P20929	NEB	T	5656	S	T5656S	Likely benign	0	1	10	402
MUT:NEB:Thr5723Ile	PROT:P20929	NEB	T	5723	I	T5723I	Likely benign	0	1	10	469
MUT:NEB:Thr5858Met	PROT:P20929	NEB	T	5858	M	T5858M	Likely benign	0	1	10	342
MUT:NEB:Thr6142Ile	PROT:P20929	NEB	T	6142	I	T6142I	Likely benign	0	1	10	58
MUT:NEB:Thr6352Arg	PROT:P20929	NEB	T	6352	R	T6352R	Likely benign	0	1	10	24
MUT:NEB:Thr6352Met	PROT:P20929	NEB	T	6352	M	T6352M	Likely benign	0	1	10	24
MUT:NEB:Thr6693Ile	PROT:P20929	NEB	T	6693	I	T6693I	Benign/Likely benign	0	1	10	365
MUT:NEB:Thr6717Ile	PROT:P20929	NEB	T	6717	I	T6717I	Likely benign	0	1	10	389
MUT:NEB:Thr6787Ile	PROT:P20929	NEB	T	6787	I	T6787I	Likely benign	0	1	10	459
MUT:NEB:Thr7303Met	PROT:P20929	NEB	T	7303	M	T7303M	Likely benign	0	1	10	975
MUT:NEB:Thr7372Pro	PROT:P20929	NEB	T	7372	P	T7372P	Likely benign	0	1	10	1044
MUT:NEB:Thr7382Pro	PROT:P20929	NEB	T	7382	P	T7382P	Pathogenic	1	2	10	1054
MUT:NEB:Thr7450Ile	PROT:P20929	NEB	T	7450	I	T7450I	Likely benign	0	1	10	1122
MUT:NEB:Thr7507Ile	PROT:P20929	NEB	T	7507	I	T7507I	Likely benign	0	1	10	1179
MUT:NEB:Thr765Met	PROT:P20929	NEB	T	765	M	T765M	Likely benign	0	1	10	1100
MUT:NEB:Thr7832Ile	PROT:P20929	NEB	T	7832	I	T7832I	Benign/Likely benign	0	1	10	1504
MUT:NEB:Thr7908Met	PROT:P20929	NEB	T	7908	M	T7908M	Likely benign	0	1	10	1580
MUT:NEB:Thr7958Pro	PROT:P20929	NEB	T	7958	P	T7958P	Likely benign	0	1	10	1630
MUT:NEB:Thr7987Pro	PROT:P20929	NEB	T	7987	P	T7987P	Likely benign	0	1	10	1659
MUT:NEB:Thr8240Pro	PROT:P20929	NEB	T	8240	P	T8240P	Likely benign	0	1	10	1912
MUT:NEB:Thr8276Asn	PROT:P20929	NEB	T	8276	N	T8276N	Likely benign	0	1	10	1948
MUT:NEB:Thr8276Ser	PROT:P20929	NEB	T	8276	S	T8276S	Likely benign	0	1	10	1948
MUT:NEB:Thr8514Ala	PROT:P20929	NEB	T	8514	A	T8514A	Likely benign	0	1	10	2186
MUT:NEB:Trp2661Cys	PROT:P20929	NEB	W	2661	C	W2661C	Likely benign	0	1	10	659
MUT:NEB:Trp3603Cys	PROT:P20929	NEB	W	3603	C	W3603C	Benign	0	2	10	121
MUT:NEB:Tyr1064Cys	PROT:P20929	NEB	Y	1064	C	Y1064C	Benign/Likely benign	0	1	10	801
MUT:NEB:Tyr1130Cys	PROT:P20929	NEB	Y	1130	C	Y1130C	Likely benign	0	1	10	735
MUT:NEB:Tyr1301His	PROT:P20929	NEB	Y	1301	H	Y1301H	Benign	0	2	10	564
MUT:NEB:Tyr1472His	PROT:P20929	NEB	Y	1472	H	Y1472H	Likely benign	0	1	10	393
MUT:NEB:Tyr1653Cys	PROT:P20929	NEB	Y	1653	C	Y1653C	Likely benign	0	1	10	212
MUT:NEB:Tyr1680Cys	PROT:P20929	NEB	Y	1680	C	Y1680C	Likely pathogenic	1	1	10	185
MUT:NEB:Tyr1928Ser	PROT:P20929	NEB	Y	1928	S	Y1928S	Likely benign	0	1	10	63
MUT:NEB:Tyr2102Cys	PROT:P20929	NEB	Y	2102	C	Y2102C	Likely benign	0	1	10	100
MUT:NEB:Tyr2272Cys	PROT:P20929	NEB	Y	2272	C	Y2272C	Likely benign	0	1	10	270
MUT:NEB:Tyr2404Cys	PROT:P20929	NEB	Y	2404	C	Y2404C	Likely benign	0	1	10	402
MUT:NEB:Tyr2690His	PROT:P20929	NEB	Y	2690	H	Y2690H	Likely benign	0	1	10	688
MUT:NEB:Tyr2753His	PROT:P20929	NEB	Y	2753	H	Y2753H	Likely benign	0	1	10	729
MUT:NEB:Tyr2794Phe	PROT:P20929	NEB	Y	2794	F	Y2794F	Pathogenic/Likely pathogenic	1	3	10	688
MUT:NEB:Tyr32Cys	PROT:P20929	NEB	Y	32	C	Y32C	Likely benign	0	1	10	1833
MUT:NEB:Tyr3985Cys	PROT:P20929	NEB	Y	3985	C	Y3985C	Likely benign	0	1	10	503
MUT:NEB:Tyr526His	PROT:P20929	NEB	Y	526	H	Y526H	Likely benign	0	1	10	1339
MUT:NEB:Tyr6155Ser	PROT:P20929	NEB	Y	6155	S	Y6155S	Likely benign	0	4	10	45
MUT:NEB:Tyr6381Cys	PROT:P20929	NEB	Y	6381	C	Y6381C	Likely benign	0	1	10	53
MUT:NEB:Tyr6400His	PROT:P20929	NEB	Y	6400	H	Y6400H	Likely benign	0	1	10	72
MUT:NEB:Tyr6479Cys	PROT:P20929	NEB	Y	6479	C	Y6479C	Likely benign	0	1	10	151
MUT:NEB:Tyr6572Cys	PROT:P20929	NEB	Y	6572	C	Y6572C	Likely benign	0	1	10	244
MUT:NEB:Tyr6619Cys	PROT:P20929	NEB	Y	6619	C	Y6619C	Likely benign	0	1	10	291
MUT:NEB:Tyr6696Cys	PROT:P20929	NEB	Y	6696	C	Y6696C	Likely benign	0	1	10	368
MUT:NEB:Tyr6757His	PROT:P20929	NEB	Y	6757	H	Y6757H	Likely benign	0	1	10	429
MUT:NEB:Tyr6989Phe	PROT:P20929	NEB	Y	6989	F	Y6989F	Likely benign	0	1	10	661
MUT:NEB:Tyr7107Cys	PROT:P20929	NEB	Y	7107	C	Y7107C	Likely benign	0	1	10	779
MUT:NEB:Tyr717Cys	PROT:P20929	NEB	Y	717	C	Y717C	Likely benign	0	1	10	1148
MUT:NEB:Tyr7217His	PROT:P20929	NEB	Y	7217	H	Y7217H	Likely benign	0	1	10	889
MUT:NEB:Tyr7366His	PROT:P20929	NEB	Y	7366	H	Y7366H	Likely benign	0	1	10	1038
MUT:NEB:Tyr7623Ser	PROT:P20929	NEB	Y	7623	S	Y7623S	Likely benign	0	1	10	1295
MUT:NEB:Tyr7712Cys	PROT:P20929	NEB	Y	7712	C	Y7712C	Likely benign	0	1	10	1384
MUT:NEB:Tyr773Cys	PROT:P20929	NEB	Y	773	C	Y773C	Benign	0	1	10	1092
MUT:NEB:Tyr8010Cys	PROT:P20929	NEB	Y	8010	C	Y8010C	Likely benign	0	1	10	1682
MUT:NEB:Tyr8165His	PROT:P20929	NEB	Y	8165	H	Y8165H	Likely benign	0	1	10	1837
MUT:NEB:Tyr8196His	PROT:P20929	NEB	Y	8196	H	Y8196H	Likely benign	0	1	10	1868
MUT:NEB:Tyr952Cys	PROT:P20929	NEB	Y	952	C	Y952C	Likely benign	0	1	10	913
MUT:NEB:Val1147Met	PROT:P20929	NEB	V	1147	M	V1147M	Likely benign	0	1	10	718
MUT:NEB:Val11Leu	PROT:P20929	NEB	V	11	L	V11L	Likely benign	0	1	10	1854
MUT:NEB:Val1247Phe	PROT:P20929	NEB	V	1247	F	V1247F	Likely benign	0	1	10	618
MUT:NEB:Val1435Ala	PROT:P20929	NEB	V	1435	A	V1435A	Likely benign	0	1	10	430
MUT:NEB:Val1479Ile	PROT:P20929	NEB	V	1479	I	V1479I	Benign	0	2	10	386
MUT:NEB:Val1491Met	PROT:P20929	NEB	V	1491	M	V1491M	Benign	0	2	10	374
MUT:NEB:Val1562Ala	PROT:P20929	NEB	V	1562	A	V1562A	Likely benign	0	1	10	303
MUT:NEB:Val1701Ala	PROT:P20929	NEB	V	1701	A	V1701A	Benign	0	1	10	164
MUT:NEB:Val1979Ile	PROT:P20929	NEB	V	1979	I	V1979I	Likely benign	0	1	10	23
MUT:NEB:Val2379Met	PROT:P20929	NEB	V	2379	M	V2379M	Likely benign	0	1	10	377
MUT:NEB:Val2403Asp	PROT:P20929	NEB	V	2403	D	V2403D	Likely benign	0	1	10	401
MUT:NEB:Val2709Gly	PROT:P20929	NEB	V	2709	G	V2709G	Likely benign	0	1	10	707
MUT:NEB:Val272Met	PROT:P20929	NEB	V	272	M	V272M	Likely benign	0	1	10	1593
MUT:NEB:Val2734Leu	PROT:P20929	NEB	V	2734	L	V2734L	Likely benign	0	1	10	732
MUT:NEB:Val2911Gly	PROT:P20929	NEB	V	2911	G	V2911G	Likely benign	0	1	10	571
MUT:NEB:Val3266Met	PROT:P20929	NEB	V	3266	M	V3266M	Likely benign	0	1	10	216
MUT:NEB:Val3463Ile	PROT:P20929	NEB	V	3463	I	V3463I	Likely benign	0	1	10	19
MUT:NEB:Val3681Leu	PROT:P20929	NEB	V	3681	L	V3681L	Likely benign	0	1	10	199
MUT:NEB:Val435Ile	PROT:P20929	NEB	V	435	I	V435I	Likely benign	0	1	10	1430
MUT:NEB:Val510Phe	PROT:P20929	NEB	V	510	F	V510F	Likely benign	0	1	10	1355
MUT:NEB:Val5831Met	PROT:P20929	NEB	V	5831	M	V5831M	Likely benign	0	1	10	369
MUT:NEB:Val5867Met	PROT:P20929	NEB	V	5867	M	V5867M	Likely benign	0	1	10	333
MUT:NEB:Val5963Ile	PROT:P20929	NEB	V	5963	I	V5963I	Benign	0	1	10	237
MUT:NEB:Val6076Leu	PROT:P20929	NEB	V	6076	L	V6076L	Likely benign	0	2	10	124
MUT:NEB:Val6493Met	PROT:P20929	NEB	V	6493	M	V6493M	Likely benign	0	1	10	165
MUT:NEB:Val6614Leu	PROT:P20929	NEB	V	6614	L	V6614L	Likely benign	0	1	10	286
MUT:NEB:Val6752Gly	PROT:P20929	NEB	V	6752	G	V6752G	Likely benign	0	1	10	424
MUT:NEB:Val6876Ile	PROT:P20929	NEB	V	6876	I	V6876I	Likely benign	0	1	10	548
MUT:NEB:Val696Ala	PROT:P20929	NEB	V	696	A	V696A	Likely benign	0	1	10	1169
MUT:NEB:Val7385Phe	PROT:P20929	NEB	V	7385	F	V7385F	Likely benign	0	1	10	1057
MUT:NEB:Val8308Ala	PROT:P20929	NEB	V	8308	A	V8308A	Likely benign	0	1	10	1980
MUT:NEB:Val8337Ile	PROT:P20929	NEB	V	8337	I	V8337I	Likely benign	0	1	10	2009
MUT:NEB:Val8508Met	PROT:P20929	NEB	V	8508	M	V8508M	Likely benign	0	1	10	2180
MUT:NEB:Val915Ile	PROT:P20929	NEB	V	915	I	V915I	Likely benign	0	1	10	950
MUT:NEB:Val962Met	PROT:P20929	NEB	V	962	M	V962M	Likely benign	0	1	10	903
MUT:NECAP1:Val237Leu	PROT:Q8NC96	NECAP1	V	237	L	V237L	Likely benign	0	2	3	26
MUT:NECTIN2:Ala355Thr	PROT:Q92692	NECTIN2	A	355	T	A355T	Benign	0	1	10	35
MUT:NECTIN2:Arg222Cys	PROT:Q92692	NECTIN2	R	222	C	R222C	Likely benign	0	1	10	122
MUT:NECTIN2:Asp176His	PROT:Q92692	NECTIN2	D	176	H	D176H	Benign	0	1	10	76
MUT:NECTIN2:Glu401Gln	PROT:Q92692	NECTIN2	E	401	Q	E401Q	Benign	0	4	10	11
MUT:NECTIN2:Pro404Leu	PROT:Q92692	NECTIN2	P	404	L	P404L	Likely benign	0	1	10	14
MUT:NECTIN2:Thr178Met	PROT:Q92692	NECTIN2	T	178	M	T178M	Likely benign	0	1	10	78
MUT:NECTIN4:Arg284Gln	PROT:Q96NY8	NECTIN4	R	284	Q	R284Q	Pathogenic	1	1	8	142
MUT:NECTIN4:Arg506Trp	PROT:Q96NY8	NECTIN4	R	506	W	R506W	Likely pathogenic	1	1	8	4
MUT:NECTIN4:Pro104Thr	PROT:Q96NY8	NECTIN4	P	104	T	P104T	Benign	0	1	8	46
MUT:NECTIN4:Pro212Arg	PROT:Q96NY8	NECTIN4	P	212	R	P212R	Pathogenic	1	1	8	154
MUT:NECTIN4:Thr185Met	PROT:Q96NY8	NECTIN4	T	185	M	T185M	Pathogenic	1	1	8	127
MUT:NECTIN4:Val242Met	PROT:Q96NY8	NECTIN4	V	242	M	V242M	Pathogenic	1	1	8	184
MUT:NEDD4L:Arg208Gln	PROT:Q96PU5	NEDD4L	R	208	Q	R208Q	Pathogenic/Likely pathogenic	1	2	36	17
MUT:NEDD4L:Arg468Gln	PROT:Q96PU5	NEDD4L	R	468	Q	R468Q	Likely benign	0	2	36	3
MUT:NEDD4L:Arg468Trp	PROT:Q96PU5	NEDD4L	R	468	W	R468W	Likely benign	0	1	36	3
MUT:NEDD4L:Asn281Ile	PROT:Q96PU5	NEDD4L	N	281	I	N281I	Likely benign	0	2	36	16
MUT:NEDD4L:Gln694His	PROT:Q96PU5	NEDD4L	Q	694	H	Q694H	Pathogenic	1	2	36	14
MUT:NEDD4L:Glu619Gln	PROT:Q96PU5	NEDD4L	E	619	Q	E619Q	Likely pathogenic	1	1	36	20
MUT:NEDD4L:Glu893Lys	PROT:Q96PU5	NEDD4L	E	893	K	E893K	Pathogenic/Likely pathogenic	1	3	36	10
MUT:NEDD4L:His172Tyr	PROT:Q96PU5	NEDD4L	H	172	Y	H172Y	Likely benign	0	1	36	53
MUT:NEDD4L:Leu5Phe	PROT:Q96PU5	NEDD4L	L	5	F	L5F	Likely benign	0	1	36	8
MUT:NEDD4L:Lys531Arg	PROT:Q96PU5	NEDD4L	K	531	R	K531R	Likely benign	0	1	36	41
MUT:NEDD4L:Met749Val	PROT:Q96PU5	NEDD4L	M	749	V	M749V	Likely pathogenic	1	1	36	69
MUT:NEDD4L:Ser179Thr	PROT:Q96PU5	NEDD4L	S	179	T	S179T	Benign/Likely benign	0	1	36	46
MUT:NEDD4L:Ser233Leu	PROT:Q96PU5	NEDD4L	S	233	L	S233L	Benign/Likely benign	0	2	36	8
MUT:NEDD4L:Thr369Arg	PROT:Q96PU5	NEDD4L	T	369	R	T369R	Benign	0	1	36	0
MUT:NEDD4L:Thr800Lys	PROT:Q96PU5	NEDD4L	T	800	K	T800K	Likely benign	0	1	36	103
MUT:NEDD4L:Tyr679Cys	PROT:Q96PU5	NEDD4L	Y	679	C	Y679C	Pathogenic	1	2	36	0
MUT:NEDD9:His504Arg	PROT:Q14511	NEDD9	H	504	R	H504R	Likely benign	0	1	20	104
MUT:NEFL:Ala195Val	PROT:P07196	NEFL	A	195	V	A195V	Benign/Likely benign	0	2	24	20
MUT:NEFL:Asn98His	PROT:P07196	NEFL	N	98	H	N98H	Likely pathogenic	1	1	24	5
MUT:NEFL:Asn98Ser	PROT:P07196	NEFL	N	98	S	N98S	Pathogenic/Likely pathogenic	1	5	24	5
MUT:NEFL:Asp468Asn	PROT:P07196	NEFL	D	468	N	D468N	Benign/Likely benign	0	3	24	4
MUT:NEFL:Gln332Pro	PROT:P07196	NEFL	Q	332	P	Q332P	Pathogenic	1	1	24	1
MUT:NEFL:Glu194Asp	PROT:P07196	NEFL	E	194	D	E194D	Benign/Likely benign	0	3	24	21
MUT:NEFL:Glu396Lys	PROT:P07196	NEFL	E	396	K	E396K	Pathogenic	1	4	24	5
MUT:NEFL:Glu90Lys	PROT:P07196	NEFL	E	90	K	E90K	Pathogenic	1	1	24	1
MUT:NEFL:Ile384Phe	PROT:P07196	NEFL	I	384	F	I384F	Pathogenic/Likely pathogenic	1	1	24	5
MUT:NEFL:Leu268Arg	PROT:P07196	NEFL	L	268	R	L268R	Likely pathogenic	1	1	24	1
MUT:NEFL:Leu268Pro	PROT:P07196	NEFL	L	268	P	L268P	Pathogenic	1	1	24	1
MUT:NEFL:Leu336Val	PROT:P07196	NEFL	L	336	V	L336V	Likely benign	0	2	24	3
MUT:NEFL:Leu94Pro	PROT:P07196	NEFL	L	94	P	L94P	Pathogenic	1	1	24	3
MUT:NEFL:Pro22Ser	PROT:P07196	NEFL	P	22	S	P22S	Pathogenic/Likely pathogenic	1	3	24	1
MUT:NEFL:Pro8Arg	PROT:P07196	NEFL	P	8	R	P8R	Pathogenic	1	3	24	5
MUT:NEFL:Pro8Gln	PROT:P07196	NEFL	P	8	Q	P8Q	Pathogenic	1	1	24	5
MUT:NEFL:Pro8Leu	PROT:P07196	NEFL	P	8	L	P8L	Pathogenic/Likely pathogenic	1	1	24	5
MUT:NEFL:Tyr265Asn	PROT:P07196	NEFL	Y	265	N	Y265N	Likely pathogenic	1	1	24	2
MUT:NEFL:Tyr265Cys	PROT:P07196	NEFL	Y	265	C	Y265C	Likely pathogenic	1	1	24	2
MUT:NEGR1:Ser277Asn	PROT:Q7Z3B1	NEGR1	S	277	N	S277N	Likely benign	0	1	6	46
MUT:NEK10:Arg773Cys	PROT:Q6ZWH5	NEK10	R	773	C	R773C	Pathogenic	1	1	1	731
MUT:NEK10:Leu513Ser	PROT:Q6ZWH5	NEK10	L	513	S	L513S	Benign	0	1	1	471
MUT:NEK10:Met662Lys	PROT:Q6ZWH5	NEK10	M	662	K	M662K	Pathogenic	1	1	1	620
MUT:NEK10:Pro728Ser	PROT:Q6ZWH5	NEK10	P	728	S	P728S	Likely pathogenic	1	1	1	686
MUT:NEK10:Pro748Leu	PROT:Q6ZWH5	NEK10	P	748	L	P748L	Pathogenic	1	1	1	706
MUT:NEK1:Ala320Thr	PROT:Q96PY6	NEK1	A	320	T	A320T	Likely benign	0	1	33	5
MUT:NEK1:Ala320Val	PROT:Q96PY6	NEK1	A	320	V	A320V	Likely benign	0	1	33	5
MUT:NEK1:Ala463Val	PROT:Q96PY6	NEK1	A	463	V	A463V	Benign/Likely benign	0	2	33	7
MUT:NEK1:Ala626Thr	PROT:Q96PY6	NEK1	A	626	T	A626T	Benign	0	1	33	27
MUT:NEK1:Ala790Thr	PROT:Q96PY6	NEK1	A	790	T	A790T	Likely benign	0	1	33	16
MUT:NEK1:Arg484Gly	PROT:Q96PY6	NEK1	R	484	G	R484G	Likely benign	0	2	33	14
MUT:NEK1:Asn242Ile	PROT:Q96PY6	NEK1	N	242	I	N242I	Likely benign	0	1	33	9
MUT:NEK1:Asp1131His	PROT:Q96PY6	NEK1	D	1131	H	D1131H	Likely pathogenic	1	1	33	5
MUT:NEK1:Asp1277Ala	PROT:Q96PY6	NEK1	D	1277	A	D1277A	Pathogenic	1	1	33	151
MUT:NEK1:Gln911Glu	PROT:Q96PY6	NEK1	Q	911	E	Q911E	Benign/Likely benign	0	2	33	14
MUT:NEK1:Glu1012Ala	PROT:Q96PY6	NEK1	E	1012	A	E1012A	Likely benign	0	1	33	4
MUT:NEK1:Glu752Gly	PROT:Q96PY6	NEK1	E	752	G	E752G	Benign	0	1	33	17
MUT:NEK1:Gly145Arg	PROT:Q96PY6	NEK1	G	145	R	G145R	Pathogenic	1	1	33	4
MUT:NEK1:Gly690Ser	PROT:Q96PY6	NEK1	G	690	S	G690S	Likely benign	0	1	33	15
MUT:NEK1:Ile129Ser	PROT:Q96PY6	NEK1	I	129	S	I129S	Likely pathogenic	1	1	33	1
MUT:NEK1:Leu413Pro	PROT:Q96PY6	NEK1	L	413	P	L413P	Likely benign	0	1	33	15
MUT:NEK1:Met628Val	PROT:Q96PY6	NEK1	M	628	V	M628V	Likely benign	0	1	33	25
MUT:NEK1:Met698Thr	PROT:Q96PY6	NEK1	M	698	T	M698T	Benign/Likely benign	0	2	33	23
MUT:NEK1:Pro172Ser	PROT:Q96PY6	NEK1	P	172	S	P172S	Pathogenic	1	1	33	16
MUT:NEK1:Pro475Arg	PROT:Q96PY6	NEK1	P	475	R	P475R	Benign/Likely benign	0	2	33	5
MUT:NEK1:Ser155Thr	PROT:Q96PY6	NEK1	S	155	T	S155T	Pathogenic	1	1	33	0
MUT:NEK1:Ser909Cys	PROT:Q96PY6	NEK1	S	909	C	S909C	Benign/Likely benign	0	2	33	16
MUT:NEK2:Arg288Gln	PROT:P51955	NEK2	R	288	Q	R288Q	Benign/Likely benign	0	2	37	7
MUT:NEK2:Arg337Pro	PROT:P51955	NEK2	R	337	P	R337P	Likely pathogenic	1	1	37	7
MUT:NEK2:Asn354Ser	PROT:P51955	NEK2	N	354	S	N354S	Benign	0	1	37	1
MUT:NEK2:Asp343Asn	PROT:P51955	NEK2	D	343	N	D343N	Likely pathogenic	1	1	37	1
MUT:NEK4:Lys463Arg	PROT:P51957	NEK4	K	463	R	K463R	Likely benign	0	1	22	21
MUT:NELFA:Ile338Val	PROT:Q9H3P2	NELFA	I	338	V	I338V	Likely benign	0	1	14	26
MUT:NEO1:His1093Gln	PROT:Q92859	NEO1	H	1093	Q	H1093Q	Likely benign	0	1	9	13
MUT:NEO1:Pro181Leu	PROT:Q92859	NEO1	P	181	L	P181L	Likely benign	0	1	9	890
MUT:NEO1:Ser304Asn	PROT:Q92859	NEO1	S	304	N	S304N	Likely benign	0	1	9	767
MUT:NEO1:Val963Ile	PROT:Q92859	NEO1	V	963	I	V963I	Likely benign	0	1	9	108
MUT:NET1:Leu195Phe	PROT:Q7Z628	NET1	L	195	F	L195F	Likely benign	0	1	14	1
MUT:NEUROG3:Arg107Ser	PROT:Q9Y4Z2	NEUROG3	R	107	S	R107S	Pathogenic/Likely pathogenic	1	2	1	5
MUT:NEUROG3:Arg41Leu	PROT:Q9Y4Z2	NEUROG3	R	41	L	R41L	Likely benign	0	1	1	71
MUT:NEUROG3:Arg93Leu	PROT:Q9Y4Z2	NEUROG3	R	93	L	R93L	Pathogenic/Likely pathogenic	1	1	1	19
MUT:NEUROG3:Arg95Pro	PROT:Q9Y4Z2	NEUROG3	R	95	P	R95P	Pathogenic	1	1	1	17
MUT:NEUROG3:Gln137Arg	PROT:Q9Y4Z2	NEUROG3	Q	137	R	Q137R	Likely pathogenic	1	1	1	25
MUT:NEUROG3:Ile132Phe	PROT:Q9Y4Z2	NEUROG3	I	132	F	I132F	Likely pathogenic	1	1	1	20
MUT:NEUROG3:Phe199Ser	PROT:Q9Y4Z2	NEUROG3	F	199	S	F199S	Benign	0	1	1	87
MUT:NEUROG3:Thr124Arg	PROT:Q9Y4Z2	NEUROG3	T	124	R	T124R	Pathogenic	1	1	1	12
MUT:NEXMIF:Arg1423His	PROT:Q5QGS0	NEXMIF	R	1423	H	R1423H	Benign/Likely benign	0	1	7	333
MUT:NEXMIF:Asn116Ser	PROT:Q5QGS0	NEXMIF	N	116	S	N116S	Likely benign	0	2	7	50
MUT:NEXMIF:Asn1402Ser	PROT:Q5QGS0	NEXMIF	N	1402	S	N1402S	Benign/Likely benign	0	1	7	312
MUT:NEXMIF:Asp951Asn	PROT:Q5QGS0	NEXMIF	D	951	N	D951N	Benign/Likely benign	0	1	7	88
MUT:NEXMIF:Gln1276Glu	PROT:Q5QGS0	NEXMIF	Q	1276	E	Q1276E	Benign/Likely benign	0	1	7	186
MUT:NEXMIF:Gln31Glu	PROT:Q5QGS0	NEXMIF	Q	31	E	Q31E	Benign/Likely benign	0	1	7	135
MUT:NEXMIF:His89Tyr	PROT:Q5QGS0	NEXMIF	H	89	Y	H89Y	Benign/Likely benign	0	1	7	77
MUT:NEXMIF:Ile1407Val	PROT:Q5QGS0	NEXMIF	I	1407	V	I1407V	Benign	0	1	7	317
MUT:NEXMIF:Met1237Leu	PROT:Q5QGS0	NEXMIF	M	1237	L	M1237L	Benign/Likely benign	0	1	7	147
MUT:NEXMIF:Pro1416Ser	PROT:Q5QGS0	NEXMIF	P	1416	S	P1416S	Benign	0	1	7	326
MUT:NEXMIF:Pro1442Leu	PROT:Q5QGS0	NEXMIF	P	1442	L	P1442L	Benign/Likely benign	0	1	7	352
MUT:NEXMIF:Pro51Thr	PROT:Q5QGS0	NEXMIF	P	51	T	P51T	Benign/Likely benign	0	1	7	115
MUT:NEXMIF:Ser1146Tyr	PROT:Q5QGS0	NEXMIF	S	1146	Y	S1146Y	Likely pathogenic	1	1	7	56
MUT:NEXMIF:Thr326Ser	PROT:Q5QGS0	NEXMIF	T	326	S	T326S	Likely benign	0	1	7	30
MUT:NEXMIF:Val1001Leu	PROT:Q5QGS0	NEXMIF	V	1001	L	V1001L	Likely benign	0	1	7	38
MUT:NEXMIF:Val700Leu	PROT:Q5QGS0	NEXMIF	V	700	L	V700L	Benign/Likely benign	0	1	7	57
MUT:NF1:Ala1071Pro	PROT:P21359	NF1	A	1071	P	A1071P	Pathogenic/Likely pathogenic	1	1	71	35
MUT:NF1:Ala1148Glu	PROT:P21359	NF1	A	1148	E	A1148E	Pathogenic	1	2	71	21
MUT:NF1:Ala1155Asp	PROT:P21359	NF1	A	1155	D	A1155D	Pathogenic/Likely pathogenic	1	2	71	14
MUT:NF1:Ala138Pro	PROT:P21359	NF1	A	138	P	A138P	Pathogenic/Likely pathogenic	1	1	71	17
MUT:NF1:Ala1540Pro	PROT:P21359	NF1	A	1540	P	A1540P	Pathogenic	1	1	71	23
MUT:NF1:Ala1610Glu	PROT:P21359	NF1	A	1610	E	A1610E	Likely pathogenic	1	1	71	29
MUT:NF1:Ala1610Ile	PROT:P21359	NF1	A	1610	I	A1610I	Likely pathogenic	1	1	71	29
MUT:NF1:Ala1716Pro	PROT:P21359	NF1	A	1716	P	A1716P	Benign/Likely benign	0	1	71	15
MUT:NF1:Ala1966Ile	PROT:P21359	NF1	A	1966	I	A1966I	Likely benign	0	1	71	83
MUT:NF1:Ala2274Ser	PROT:P21359	NF1	A	2274	S	A2274S	Pathogenic	1	1	71	82
MUT:NF1:Ala2389Ser	PROT:P21359	NF1	A	2389	S	A2389S	Likely benign	0	1	71	71
MUT:NF1:Ala2440Val	PROT:P21359	NF1	A	2440	V	A2440V	Pathogenic	1	1	71	20
MUT:NF1:Ala246Glu	PROT:P21359	NF1	A	246	E	A246E	Pathogenic/Likely pathogenic	1	1	71	15
MUT:NF1:Ala2532Val	PROT:P21359	NF1	A	2532	V	A2532V	Benign/Likely benign	0	6	71	9
MUT:NF1:Ala2737Asp	PROT:P21359	NF1	A	2737	D	A2737D	Likely pathogenic	1	1	71	65
MUT:NF1:Ala320Asp	PROT:P21359	NF1	A	320	D	A320D	Likely pathogenic	1	1	71	23
MUT:NF1:Ala323Asp	PROT:P21359	NF1	A	323	D	A323D	Pathogenic/Likely pathogenic	1	1	71	26
MUT:NF1:Ala330Val	PROT:P21359	NF1	A	330	V	A330V	Pathogenic/Likely pathogenic	1	1	71	32
MUT:NF1:Ala545Glu	PROT:P21359	NF1	A	545	E	A545E	Likely pathogenic	1	1	71	29
MUT:NF1:Ala742Ser	PROT:P21359	NF1	A	742	S	A742S	Likely benign	0	3	71	41
MUT:NF1:Ala846Asp	PROT:P21359	NF1	A	846	D	A846D	Pathogenic	1	1	71	16
MUT:NF1:Ala846Pro	PROT:P21359	NF1	A	846	P	A846P	Pathogenic/Likely pathogenic	1	2	71	16
MUT:NF1:Arg1000Pro	PROT:P21359	NF1	R	1000	P	R1000P	Pathogenic/Likely pathogenic	1	1	71	36
MUT:NF1:Arg1000Ser	PROT:P21359	NF1	R	1000	S	R1000S	Likely pathogenic	1	1	71	36
MUT:NF1:Arg1038Gly	PROT:P21359	NF1	R	1038	G	R1038G	Likely pathogenic	1	1	71	2
MUT:NF1:Arg1038Thr	PROT:P21359	NF1	R	1038	T	R1038T	Pathogenic	1	1	71	2
MUT:NF1:Arg1066Lys	PROT:P21359	NF1	R	1066	K	R1066K	Pathogenic/Likely pathogenic	1	1	71	30
MUT:NF1:Arg1204Gly	PROT:P21359	NF1	R	1204	G	R1204G	Pathogenic/Likely pathogenic	1	2	71	35
MUT:NF1:Arg1204Leu	PROT:P21359	NF1	R	1204	L	R1204L	Pathogenic/Likely pathogenic	1	2	71	35
MUT:NF1:Arg1204Trp	PROT:P21359	NF1	R	1204	W	R1204W	Pathogenic/Likely pathogenic	1	2	71	35
MUT:NF1:Arg1276Gln	PROT:P21359	NF1	R	1276	Q	R1276Q	Pathogenic	1	1	71	107
MUT:NF1:Arg1276Gly	PROT:P21359	NF1	R	1276	G	R1276G	Pathogenic/Likely pathogenic	1	2	71	107
MUT:NF1:Arg1276Leu	PROT:P21359	NF1	R	1276	L	R1276L	Pathogenic/Likely pathogenic	1	1	71	107
MUT:NF1:Arg1276Pro	PROT:P21359	NF1	R	1276	P	R1276P	Pathogenic/Likely pathogenic	1	2	71	107
MUT:NF1:Arg1325Lys	PROT:P21359	NF1	R	1325	K	R1325K	Pathogenic/Likely pathogenic	1	2	71	82
MUT:NF1:Arg1325Met	PROT:P21359	NF1	R	1325	M	R1325M	Likely pathogenic	1	2	71	82
MUT:NF1:Arg1325Thr	PROT:P21359	NF1	R	1325	T	R1325T	Pathogenic/Likely pathogenic	1	2	71	82
MUT:NF1:Arg1412Gly	PROT:P21359	NF1	R	1412	G	R1412G	Pathogenic	1	1	71	5
MUT:NF1:Arg1412Ile	PROT:P21359	NF1	R	1412	I	R1412I	Pathogenic/Likely pathogenic	1	2	71	5
MUT:NF1:Arg1412Lys	PROT:P21359	NF1	R	1412	K	R1412K	Likely pathogenic	1	2	71	5
MUT:NF1:Arg1412Ser	PROT:P21359	NF1	R	1412	S	R1412S	Pathogenic/Likely pathogenic	1	1	71	5
MUT:NF1:Arg1412Thr	PROT:P21359	NF1	R	1412	T	R1412T	Pathogenic/Likely pathogenic	1	1	71	5
MUT:NF1:Arg160Lys	PROT:P21359	NF1	R	160	K	R160K	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Arg160Thr	PROT:P21359	NF1	R	160	T	R160T	Pathogenic	1	1	71	1
MUT:NF1:Arg1611Leu	PROT:P21359	NF1	R	1611	L	R1611L	Pathogenic	1	1	71	30
MUT:NF1:Arg1830Cys	PROT:P21359	NF1	R	1830	C	R1830C	Pathogenic	1	6	71	85
MUT:NF1:Arg1830Gly	PROT:P21359	NF1	R	1830	G	R1830G	Pathogenic/Likely pathogenic	1	1	71	85
MUT:NF1:Arg1830Leu	PROT:P21359	NF1	R	1830	L	R1830L	Pathogenic/Likely pathogenic	1	1	71	85
MUT:NF1:Arg1830Pro	PROT:P21359	NF1	R	1830	P	R1830P	Pathogenic	1	1	71	85
MUT:NF1:Arg1830Ser	PROT:P21359	NF1	R	1830	S	R1830S	Pathogenic	1	1	71	85
MUT:NF1:Arg1870Gln	PROT:P21359	NF1	R	1870	Q	R1870Q	Pathogenic	1	8	71	125
MUT:NF1:Arg1870Leu	PROT:P21359	NF1	R	1870	L	R1870L	Pathogenic	1	1	71	125
MUT:NF1:Arg2349Gly	PROT:P21359	NF1	R	2349	G	R2349G	Likely benign	0	1	71	111
MUT:NF1:Arg873Gly	PROT:P21359	NF1	R	873	G	R873G	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Arg997Lys	PROT:P21359	NF1	R	997	K	R997K	Pathogenic/Likely pathogenic	1	2	71	39
MUT:NF1:Arg997Met	PROT:P21359	NF1	R	997	M	R997M	Likely pathogenic	1	1	71	39
MUT:NF1:Arg997Ser	PROT:P21359	NF1	R	997	S	R997S	Likely pathogenic	1	2	71	39
MUT:NF1:Arg997Thr	PROT:P21359	NF1	R	997	T	R997T	Pathogenic	1	2	71	39
MUT:NF1:Asn1154Ile	PROT:P21359	NF1	N	1154	I	N1154I	Pathogenic/Likely pathogenic	1	1	71	15
MUT:NF1:Asn1154Thr	PROT:P21359	NF1	N	1154	T	N1154T	Pathogenic	1	1	71	15
MUT:NF1:Asn1156His	PROT:P21359	NF1	N	1156	H	N1156H	Likely pathogenic	1	1	71	13
MUT:NF1:Asn1156Lys	PROT:P21359	NF1	N	1156	K	N1156K	Likely pathogenic	1	2	71	13
MUT:NF1:Asn1156Thr	PROT:P21359	NF1	N	1156	T	N1156T	Likely pathogenic	1	1	71	13
MUT:NF1:Asn1278Ile	PROT:P21359	NF1	N	1278	I	N1278I	Likely pathogenic	1	1	71	109
MUT:NF1:Asn1278Lys	PROT:P21359	NF1	N	1278	K	N1278K	Pathogenic/Likely pathogenic	1	1	71	109
MUT:NF1:Asn1415Lys	PROT:P21359	NF1	N	1415	K	N1415K	Pathogenic	1	1	71	8
MUT:NF1:Asn1415Tyr	PROT:P21359	NF1	N	1415	Y	N1415Y	Pathogenic/Likely pathogenic	1	1	71	8
MUT:NF1:Asn1451Asp	PROT:P21359	NF1	N	1451	D	N1451D	Pathogenic/Likely pathogenic	1	2	71	5
MUT:NF1:Asn1451His	PROT:P21359	NF1	N	1451	H	N1451H	Likely pathogenic	1	1	71	5
MUT:NF1:Asn1451Ile	PROT:P21359	NF1	N	1451	I	N1451I	Pathogenic/Likely pathogenic	1	1	71	5
MUT:NF1:Asn1451Lys	PROT:P21359	NF1	N	1451	K	N1451K	Pathogenic	1	1	71	5
MUT:NF1:Asn1683Lys	PROT:P21359	NF1	N	1683	K	N1683K	Pathogenic	1	1	71	18
MUT:NF1:Asn1861Lys	PROT:P21359	NF1	N	1861	K	N1861K	Likely pathogenic	1	1	71	116
MUT:NF1:Asn957Ile	PROT:P21359	NF1	N	957	I	N957I	Pathogenic/Likely pathogenic	1	1	71	31
MUT:NF1:Asp1067Tyr	PROT:P21359	NF1	D	1067	Y	D1067Y	Likely benign	0	1	71	31
MUT:NF1:Asp1067Val	PROT:P21359	NF1	D	1067	V	D1067V	Likely benign	0	1	71	31
MUT:NF1:Asp1217Asn	PROT:P21359	NF1	D	1217	N	D1217N	Likely pathogenic	1	1	71	48
MUT:NF1:Asp1217Glu	PROT:P21359	NF1	D	1217	E	D1217E	Likely pathogenic	1	2	71	48
MUT:NF1:Asp1217Gly	PROT:P21359	NF1	D	1217	G	D1217G	Pathogenic	1	1	71	48
MUT:NF1:Asp1217Tyr	PROT:P21359	NF1	D	1217	Y	D1217Y	Pathogenic	1	1	71	48
MUT:NF1:Asp1217Val	PROT:P21359	NF1	D	1217	V	D1217V	Likely pathogenic	1	1	71	48
MUT:NF1:Asp1644Ala	PROT:P21359	NF1	D	1644	A	D1644A	Pathogenic	1	1	71	57
MUT:NF1:Asp1644Asn	PROT:P21359	NF1	D	1644	N	D1644N	Pathogenic/Likely pathogenic	1	1	71	57
MUT:NF1:Asp1644Gly	PROT:P21359	NF1	D	1644	G	D1644G	Pathogenic/Likely pathogenic	1	1	71	57
MUT:NF1:Asp1644His	PROT:P21359	NF1	D	1644	H	D1644H	Likely pathogenic	1	1	71	57
MUT:NF1:Asp1644Tyr	PROT:P21359	NF1	D	1644	Y	D1644Y	Likely pathogenic	1	1	71	57
MUT:NF1:Asp1644Val	PROT:P21359	NF1	D	1644	V	D1644V	Likely pathogenic	1	1	71	57
MUT:NF1:Asp1849Tyr	PROT:P21359	NF1	D	1849	Y	D1849Y	Pathogenic	1	1	71	104
MUT:NF1:Asp186Val	PROT:P21359	NF1	D	186	V	D186V	Likely pathogenic	1	1	71	27
MUT:NF1:Asp2008Ala	PROT:P21359	NF1	D	2008	A	D2008A	Likely pathogenic	1	1	71	41
MUT:NF1:Asp2008His	PROT:P21359	NF1	D	2008	H	D2008H	Pathogenic/Likely pathogenic	1	1	71	41
MUT:NF1:Asp2008Tyr	PROT:P21359	NF1	D	2008	Y	D2008Y	Pathogenic	1	1	71	41
MUT:NF1:Asp2632Gly	PROT:P21359	NF1	D	2632	G	D2632G	Pathogenic/Likely pathogenic	1	2	71	35
MUT:NF1:Asp2736Asn	PROT:P21359	NF1	D	2736	N	D2736N	Benign/Likely benign	0	1	71	66
MUT:NF1:Asp338Asn	PROT:P21359	NF1	D	338	N	D338N	Pathogenic	1	1	71	24
MUT:NF1:Asp338Gly	PROT:P21359	NF1	D	338	G	D338G	Pathogenic/Likely pathogenic	1	1	71	24
MUT:NF1:Cys1016Arg	PROT:P21359	NF1	C	1016	R	C1016R	Pathogenic	1	1	71	20
MUT:NF1:Cys1016Trp	PROT:P21359	NF1	C	1016	W	C1016W	Likely pathogenic	1	1	71	20
MUT:NF1:Cys1016Tyr	PROT:P21359	NF1	C	1016	Y	C1016Y	Pathogenic/Likely pathogenic	1	1	71	20
MUT:NF1:Cys1930Arg	PROT:P21359	NF1	C	1930	R	C1930R	Pathogenic/Likely pathogenic	1	1	71	119
MUT:NF1:Cys324Arg	PROT:P21359	NF1	C	324	R	C324R	Likely pathogenic	1	1	71	27
MUT:NF1:Cys379Arg	PROT:P21359	NF1	C	379	R	C379R	Pathogenic/Likely pathogenic	1	1	71	17
MUT:NF1:Cys582Phe	PROT:P21359	NF1	C	582	F	C582F	Likely pathogenic	1	1	71	8
MUT:NF1:Cys709Arg	PROT:P21359	NF1	C	709	R	C709R	Pathogenic/Likely pathogenic	1	2	71	52
MUT:NF1:Cys845Arg	PROT:P21359	NF1	C	845	R	C845R	Pathogenic/Likely pathogenic	1	1	71	17
MUT:NF1:Cys845Tyr	PROT:P21359	NF1	C	845	Y	C845Y	Pathogenic	1	1	71	17
MUT:NF1:Cys93Arg	PROT:P21359	NF1	C	93	R	C93R	Pathogenic/Likely pathogenic	1	1	71	53
MUT:NF1:Cys93Trp	PROT:P21359	NF1	C	93	W	C93W	Pathogenic/Likely pathogenic	1	1	71	53
MUT:NF1:Cys93Tyr	PROT:P21359	NF1	C	93	Y	C93Y	Pathogenic/Likely pathogenic	1	2	71	53
MUT:NF1:Gln1017Glu	PROT:P21359	NF1	Q	1017	E	Q1017E	Likely pathogenic	1	1	71	19
MUT:NF1:Gln1101Leu	PROT:P21359	NF1	Q	1101	L	Q1101L	Likely pathogenic	1	1	71	65
MUT:NF1:Gln1189Arg	PROT:P21359	NF1	Q	1189	R	Q1189R	Pathogenic/Likely pathogenic	1	1	71	20
MUT:NF1:Gln1447Arg	PROT:P21359	NF1	Q	1447	R	Q1447R	Pathogenic/Likely pathogenic	1	2	71	9
MUT:NF1:Gln1447Glu	PROT:P21359	NF1	Q	1447	E	Q1447E	Pathogenic	1	1	71	9
MUT:NF1:Gln1447His	PROT:P21359	NF1	Q	1447	H	Q1447H	Pathogenic/Likely pathogenic	1	3	71	9
MUT:NF1:Gln1447Lys	PROT:P21359	NF1	Q	1447	K	Q1447K	Pathogenic	1	1	71	9
MUT:NF1:Gln1447Pro	PROT:P21359	NF1	Q	1447	P	Q1447P	Pathogenic/Likely pathogenic	1	2	71	9
MUT:NF1:Gln1515Arg	PROT:P21359	NF1	Q	1515	R	Q1515R	Pathogenic/Likely pathogenic	1	1	71	2
MUT:NF1:Gln20His	PROT:P21359	NF1	Q	20	H	Q20H	Likely pathogenic	1	2	71	4
MUT:NF1:Gln270Pro	PROT:P21359	NF1	Q	270	P	Q270P	Likely pathogenic	1	1	71	9
MUT:NF1:Gln83Pro	PROT:P21359	NF1	Q	83	P	Q83P	Pathogenic/Likely pathogenic	1	1	71	43
MUT:NF1:Gln950His	PROT:P21359	NF1	Q	950	H	Q950H	Pathogenic	1	1	71	24
MUT:NF1:Glu1458Lys	PROT:P21359	NF1	E	1458	K	E1458K	Pathogenic	1	1	71	2
MUT:NF1:Glu1768Asp	PROT:P21359	NF1	E	1768	D	E1768D	Benign	0	1	71	23
MUT:NF1:Glu2143Lys	PROT:P21359	NF1	E	2143	K	E2143K	Pathogenic	1	1	71	45
MUT:NF1:Glu2214Asp	PROT:P21359	NF1	E	2214	D	E2214D	Likely pathogenic	1	1	71	22
MUT:NF1:Glu2339Lys	PROT:P21359	NF1	E	2339	K	E2339K	Benign	0	1	71	121
MUT:NF1:Glu244Lys	PROT:P21359	NF1	E	244	K	E244K	Pathogenic/Likely pathogenic	1	1	71	17
MUT:NF1:Glu41Val	PROT:P21359	NF1	E	41	V	E41V	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Glu775Ala	PROT:P21359	NF1	E	775	A	E775A	Pathogenic	1	1	71	8
MUT:NF1:Glu775Asp	PROT:P21359	NF1	E	775	D	E775D	Pathogenic	1	1	71	8
MUT:NF1:Gly1166Cys	PROT:P21359	NF1	G	1166	C	G1166C	Pathogenic	1	1	71	3
MUT:NF1:Gly1166Ser	PROT:P21359	NF1	G	1166	S	G1166S	Pathogenic/Likely pathogenic	1	1	71	3
MUT:NF1:Gly1168Arg	PROT:P21359	NF1	G	1168	R	G1168R	Pathogenic/Likely pathogenic	1	2	71	1
MUT:NF1:Gly1168Asp	PROT:P21359	NF1	G	1168	D	G1168D	Likely pathogenic	1	1	71	1
MUT:NF1:Gly1190Asp	PROT:P21359	NF1	G	1190	D	G1190D	Pathogenic/Likely pathogenic	1	1	71	21
MUT:NF1:Gly1190Ser	PROT:P21359	NF1	G	1190	S	G1190S	Pathogenic/Likely pathogenic	1	2	71	21
MUT:NF1:Gly1219Val	PROT:P21359	NF1	G	1219	V	G1219V	Pathogenic	1	1	71	50
MUT:NF1:Gly1277Arg	PROT:P21359	NF1	G	1277	R	G1277R	Likely pathogenic	1	1	71	108
MUT:NF1:Gly1519Glu	PROT:P21359	NF1	G	1519	E	G1519E	Pathogenic/Likely pathogenic	1	1	71	2
MUT:NF1:Gly1890Ala	PROT:P21359	NF1	G	1890	A	G1890A	Pathogenic	1	1	71	145
MUT:NF1:Gly1890Arg	PROT:P21359	NF1	G	1890	R	G1890R	Likely pathogenic	1	1	71	145
MUT:NF1:Gly2001Arg	PROT:P21359	NF1	G	2001	R	G2001R	Likely pathogenic	1	1	71	48
MUT:NF1:Gly2334Asp	PROT:P21359	NF1	G	2334	D	G2334D	Pathogenic	1	1	71	126
MUT:NF1:Gly2397Arg	PROT:P21359	NF1	G	2397	R	G2397R	Pathogenic/Likely pathogenic	1	1	71	63
MUT:NF1:Gly2397Trp	PROT:P21359	NF1	G	2397	W	G2397W	Pathogenic	1	1	71	63
MUT:NF1:Gly629Arg	PROT:P21359	NF1	G	629	R	G629R	Pathogenic	1	7	71	28
MUT:NF1:Gly751Arg	PROT:P21359	NF1	G	751	R	G751R	Pathogenic/Likely pathogenic	1	3	71	32
MUT:NF1:Gly848Arg	PROT:P21359	NF1	G	848	R	G848R	Pathogenic/Likely pathogenic	1	1	71	14
MUT:NF1:Gly848Glu	PROT:P21359	NF1	G	848	E	G848E	Pathogenic	1	1	71	14
MUT:NF1:Gly922Ser	PROT:P21359	NF1	G	922	S	G922S	Pathogenic/Likely pathogenic	1	1	71	4
MUT:NF1:His1143Tyr	PROT:P21359	NF1	H	1143	Y	H1143Y	Pathogenic/Likely pathogenic	1	2	71	26
MUT:NF1:His1460Pro	PROT:P21359	NF1	H	1460	P	H1460P	Likely pathogenic	1	1	71	4
MUT:NF1:His1626Pro	PROT:P21359	NF1	H	1626	P	H1626P	Likely pathogenic	1	1	71	45
MUT:NF1:His1826Asn	PROT:P21359	NF1	H	1826	N	H1826N	Likely pathogenic	1	1	71	81
MUT:NF1:His2658Tyr	PROT:P21359	NF1	H	2658	Y	H2658Y	Likely pathogenic	1	1	71	61
MUT:NF1:His553Arg	PROT:P21359	NF1	H	553	R	H553R	Pathogenic/Likely pathogenic	1	1	71	21
MUT:NF1:His553Asp	PROT:P21359	NF1	H	553	D	H553D	Likely pathogenic	1	1	71	21
MUT:NF1:His553Pro	PROT:P21359	NF1	H	553	P	H553P	Pathogenic/Likely pathogenic	1	1	71	21
MUT:NF1:His781Pro	PROT:P21359	NF1	H	781	P	H781P	Pathogenic/Likely pathogenic	1	1	71	2
MUT:NF1:Ile1165Lys	PROT:P21359	NF1	I	1165	K	I1165K	Pathogenic	1	1	71	4
MUT:NF1:Ile117Asn	PROT:P21359	NF1	I	117	N	I117N	Pathogenic	1	1	71	38
MUT:NF1:Ile1284Arg	PROT:P21359	NF1	I	1284	R	I1284R	Pathogenic	1	1	71	115
MUT:NF1:Ile1351Val	PROT:P21359	NF1	I	1351	V	I1351V	Likely benign	0	1	71	56
MUT:NF1:Ile1679Val	PROT:P21359	NF1	I	1679	V	I1679V	Benign/Likely benign	0	5	71	22
MUT:NF1:Ile177Arg	PROT:P21359	NF1	I	177	R	I177R	Likely pathogenic	1	1	71	18
MUT:NF1:Ile177Lys	PROT:P21359	NF1	I	177	K	I177K	Likely pathogenic	1	1	71	18
MUT:NF1:Ile1845Ser	PROT:P21359	NF1	I	1845	S	I1845S	Pathogenic/Likely pathogenic	1	1	71	100
MUT:NF1:Ile1845Thr	PROT:P21359	NF1	I	1845	T	I1845T	Pathogenic/Likely pathogenic	1	1	71	100
MUT:NF1:Ile581Ser	PROT:P21359	NF1	I	581	S	I581S	Likely pathogenic	1	1	71	7
MUT:NF1:Ile603Lys	PROT:P21359	NF1	I	603	K	I603K	Likely pathogenic	1	1	71	29
MUT:NF1:Ile634Thr	PROT:P21359	NF1	I	634	T	I634T	Benign/Likely benign	0	3	71	23
MUT:NF1:Ile766Ser	PROT:P21359	NF1	I	766	S	I766S	Pathogenic	1	1	71	17
MUT:NF1:Ile826Val	PROT:P21359	NF1	I	826	V	I826V	Benign/Likely benign	0	1	71	16
MUT:NF1:Ile965Arg	PROT:P21359	NF1	I	965	R	I965R	Likely pathogenic	1	1	71	39
MUT:NF1:Leu1015Arg	PROT:P21359	NF1	L	1015	R	L1015R	Pathogenic	1	1	71	21
MUT:NF1:Leu1015Pro	PROT:P21359	NF1	L	1015	P	L1015P	Pathogenic/Likely pathogenic	1	1	71	21
MUT:NF1:Leu1079Pro	PROT:P21359	NF1	L	1079	P	L1079P	Likely pathogenic	1	1	71	43
MUT:NF1:Leu1080Pro	PROT:P21359	NF1	L	1080	P	L1080P	Pathogenic/Likely pathogenic	1	1	71	44
MUT:NF1:Leu1104Arg	PROT:P21359	NF1	L	1104	R	L1104R	Pathogenic/Likely pathogenic	1	1	71	65
MUT:NF1:Leu1183Arg	PROT:P21359	NF1	L	1183	R	L1183R	Pathogenic	1	1	71	14
MUT:NF1:Leu1187Arg	PROT:P21359	NF1	L	1187	R	L1187R	Likely pathogenic	1	1	71	18
MUT:NF1:Leu1196Arg	PROT:P21359	NF1	L	1196	R	L1196R	Pathogenic/Likely pathogenic	1	2	71	27
MUT:NF1:Leu1196Phe	PROT:P21359	NF1	L	1196	F	L1196F	Pathogenic/Likely pathogenic	1	2	71	27
MUT:NF1:Leu1196Pro	PROT:P21359	NF1	L	1196	P	L1196P	Pathogenic/Likely pathogenic	1	1	71	27
MUT:NF1:Leu1196Val	PROT:P21359	NF1	L	1196	V	L1196V	Pathogenic/Likely pathogenic	1	1	71	27
MUT:NF1:Leu1208Trp	PROT:P21359	NF1	L	1208	W	L1208W	Pathogenic/Likely pathogenic	1	1	71	39
MUT:NF1:Leu1221Arg	PROT:P21359	NF1	L	1221	R	L1221R	Pathogenic/Likely pathogenic	1	1	71	52
MUT:NF1:Leu1243Arg	PROT:P21359	NF1	L	1243	R	L1243R	Likely pathogenic	1	1	71	74
MUT:NF1:Leu1243Pro	PROT:P21359	NF1	L	1243	P	L1243P	Pathogenic/Likely pathogenic	1	1	71	74
MUT:NF1:Leu1339Arg	PROT:P21359	NF1	L	1339	R	L1339R	Pathogenic/Likely pathogenic	1	1	71	68
MUT:NF1:Leu1411Arg	PROT:P21359	NF1	L	1411	R	L1411R	Pathogenic/Likely pathogenic	1	2	71	4
MUT:NF1:Leu1411Phe	PROT:P21359	NF1	L	1411	F	L1411F	Pathogenic/Likely pathogenic	1	2	71	4
MUT:NF1:Leu1411Pro	PROT:P21359	NF1	L	1411	P	L1411P	Pathogenic/Likely pathogenic	1	1	71	4
MUT:NF1:Leu1411Val	PROT:P21359	NF1	L	1411	V	L1411V	Pathogenic/Likely pathogenic	1	1	71	4
MUT:NF1:Leu1446Arg	PROT:P21359	NF1	L	1446	R	L1446R	Pathogenic	1	1	71	10
MUT:NF1:Leu1446Pro	PROT:P21359	NF1	L	1446	P	L1446P	Pathogenic/Likely pathogenic	1	1	71	10
MUT:NF1:Leu145Arg	PROT:P21359	NF1	L	145	R	L145R	Likely pathogenic	1	1	71	10
MUT:NF1:Leu145Pro	PROT:P21359	NF1	L	145	P	L145P	Pathogenic	1	1	71	10
MUT:NF1:Leu1511Arg	PROT:P21359	NF1	L	1511	R	L1511R	Likely pathogenic	1	1	71	6
MUT:NF1:Leu1511Pro	PROT:P21359	NF1	L	1511	P	L1511P	Pathogenic/Likely pathogenic	1	1	71	6
MUT:NF1:Leu1854Arg	PROT:P21359	NF1	L	1854	R	L1854R	Pathogenic	1	1	71	109
MUT:NF1:Leu1854Pro	PROT:P21359	NF1	L	1854	P	L1854P	Likely pathogenic	1	1	71	109
MUT:NF1:Leu1855Arg	PROT:P21359	NF1	L	1855	R	L1855R	Likely pathogenic	1	1	71	110
MUT:NF1:Leu1877Met	PROT:P21359	NF1	L	1877	M	L1877M	Likely pathogenic	1	1	71	132
MUT:NF1:Leu1877Pro	PROT:P21359	NF1	L	1877	P	L1877P	Pathogenic/Likely pathogenic	1	1	71	132
MUT:NF1:Leu1915Arg	PROT:P21359	NF1	L	1915	R	L1915R	Pathogenic	1	1	71	134
MUT:NF1:Leu1915Pro	PROT:P21359	NF1	L	1915	P	L1915P	Pathogenic/Likely pathogenic	1	1	71	134
MUT:NF1:Leu194Arg	PROT:P21359	NF1	L	194	R	L194R	Pathogenic	1	1	71	35
MUT:NF1:Leu194Pro	PROT:P21359	NF1	L	194	P	L194P	Pathogenic	1	1	71	35
MUT:NF1:Leu1953Val	PROT:P21359	NF1	L	1953	V	L1953V	Likely pathogenic	1	1	71	96
MUT:NF1:Leu1978Pro	PROT:P21359	NF1	L	1978	P	L1978P	Pathogenic/Likely pathogenic	1	1	71	71
MUT:NF1:Leu2103Pro	PROT:P21359	NF1	L	2103	P	L2103P	Pathogenic	1	1	71	54
MUT:NF1:Leu2125Arg	PROT:P21359	NF1	L	2125	R	L2125R	Likely pathogenic	1	1	71	63
MUT:NF1:Leu2125Gln	PROT:P21359	NF1	L	2125	Q	L2125Q	Likely pathogenic	1	1	71	63
MUT:NF1:Leu2133Arg	PROT:P21359	NF1	L	2133	R	L2133R	Likely pathogenic	1	1	71	55
MUT:NF1:Leu2133Val	PROT:P21359	NF1	L	2133	V	L2133V	Pathogenic	1	1	71	55
MUT:NF1:Leu2153Pro	PROT:P21359	NF1	L	2153	P	L2153P	Pathogenic/Likely pathogenic	1	1	71	35
MUT:NF1:Leu2164Met	PROT:P21359	NF1	L	2164	M	L2164M	Pathogenic	1	1	71	24
MUT:NF1:Leu2298Arg	PROT:P21359	NF1	L	2298	R	L2298R	Pathogenic	1	1	71	106
MUT:NF1:Leu2315Arg	PROT:P21359	NF1	L	2315	R	L2315R	Likely pathogenic	1	1	71	123
MUT:NF1:Leu2337Pro	PROT:P21359	NF1	L	2337	P	L2337P	Pathogenic	1	1	71	123
MUT:NF1:Leu2338Arg	PROT:P21359	NF1	L	2338	R	L2338R	Likely pathogenic	1	1	71	122
MUT:NF1:Leu2338Pro	PROT:P21359	NF1	L	2338	P	L2338P	Pathogenic/Likely pathogenic	1	1	71	122
MUT:NF1:Leu2394Arg	PROT:P21359	NF1	L	2394	R	L2394R	Pathogenic/Likely pathogenic	1	1	71	66
MUT:NF1:Leu2394Pro	PROT:P21359	NF1	L	2394	P	L2394P	Pathogenic/Likely pathogenic	1	1	71	66
MUT:NF1:Leu2416Pro	PROT:P21359	NF1	L	2416	P	L2416P	Pathogenic	1	1	71	44
MUT:NF1:Leu2461Phe	PROT:P21359	NF1	L	2461	F	L2461F	Likely benign	0	1	71	1
MUT:NF1:Leu273Pro	PROT:P21359	NF1	L	273	P	L273P	Pathogenic	1	1	71	12
MUT:NF1:Leu316Met	PROT:P21359	NF1	L	316	M	L316M	Pathogenic	1	1	71	19
MUT:NF1:Leu357Pro	PROT:P21359	NF1	L	357	P	L357P	Pathogenic/Likely pathogenic	1	2	71	5
MUT:NF1:Leu380His	PROT:P21359	NF1	L	380	H	L380H	Likely pathogenic	1	1	71	18
MUT:NF1:Leu380Pro	PROT:P21359	NF1	L	380	P	L380P	Pathogenic/Likely pathogenic	1	2	71	18
MUT:NF1:Leu410Pro	PROT:P21359	NF1	L	410	P	L410P	Pathogenic/Likely pathogenic	1	1	71	39
MUT:NF1:Leu43Arg	PROT:P21359	NF1	L	43	R	L43R	Pathogenic	1	1	71	3
MUT:NF1:Leu43Gln	PROT:P21359	NF1	L	43	Q	L43Q	Likely pathogenic	1	1	71	3
MUT:NF1:Leu43Pro	PROT:P21359	NF1	L	43	P	L43P	Pathogenic/Likely pathogenic	1	1	71	3
MUT:NF1:Leu447Pro	PROT:P21359	NF1	L	447	P	L447P	Pathogenic	1	1	71	2
MUT:NF1:Leu508Pro	PROT:P21359	NF1	L	508	P	L508P	Pathogenic/Likely pathogenic	1	2	71	3
MUT:NF1:Leu529Pro	PROT:P21359	NF1	L	529	P	L529P	Pathogenic/Likely pathogenic	1	2	71	24
MUT:NF1:Leu532Arg	PROT:P21359	NF1	L	532	R	L532R	Pathogenic/Likely pathogenic	1	2	71	27
MUT:NF1:Leu549Arg	PROT:P21359	NF1	L	549	R	L549R	Pathogenic/Likely pathogenic	1	1	71	25
MUT:NF1:Leu549Pro	PROT:P21359	NF1	L	549	P	L549P	Pathogenic/Likely pathogenic	1	1	71	25
MUT:NF1:Leu550Pro	PROT:P21359	NF1	L	550	P	L550P	Likely pathogenic	1	1	71	24
MUT:NF1:Leu552His	PROT:P21359	NF1	L	552	H	L552H	Likely pathogenic	1	1	71	22
MUT:NF1:Leu578Arg	PROT:P21359	NF1	L	578	R	L578R	Pathogenic/Likely pathogenic	1	1	71	4
MUT:NF1:Leu578Pro	PROT:P21359	NF1	L	578	P	L578P	Pathogenic/Likely pathogenic	1	1	71	4
MUT:NF1:Leu58Arg	PROT:P21359	NF1	L	58	R	L58R	Likely pathogenic	1	1	71	18
MUT:NF1:Leu58Pro	PROT:P21359	NF1	L	58	P	L58P	Likely pathogenic	1	1	71	18
MUT:NF1:Leu691Arg	PROT:P21359	NF1	L	691	R	L691R	Pathogenic/Likely pathogenic	1	1	71	34
MUT:NF1:Leu691Pro	PROT:P21359	NF1	L	691	P	L691P	Pathogenic/Likely pathogenic	1	1	71	34
MUT:NF1:Leu695Arg	PROT:P21359	NF1	L	695	R	L695R	Likely pathogenic	1	1	71	38
MUT:NF1:Leu695Pro	PROT:P21359	NF1	L	695	P	L695P	Pathogenic/Likely pathogenic	1	1	71	38
MUT:NF1:Leu763Arg	PROT:P21359	NF1	L	763	R	L763R	Pathogenic/Likely pathogenic	1	2	71	20
MUT:NF1:Leu763Pro	PROT:P21359	NF1	L	763	P	L763P	Pathogenic/Likely pathogenic	1	2	71	20
MUT:NF1:Leu792His	PROT:P21359	NF1	L	792	H	L792H	Likely pathogenic	1	3	71	4
MUT:NF1:Leu844Arg	PROT:P21359	NF1	L	844	R	L844R	Pathogenic	1	1	71	18
MUT:NF1:Leu844His	PROT:P21359	NF1	L	844	H	L844H	Pathogenic	1	1	71	18
MUT:NF1:Leu844Phe	PROT:P21359	NF1	L	844	F	L844F	Pathogenic/Likely pathogenic	1	3	71	18
MUT:NF1:Leu844Pro	PROT:P21359	NF1	L	844	P	L844P	Pathogenic/Likely pathogenic	1	1	71	18
MUT:NF1:Leu847Arg	PROT:P21359	NF1	L	847	R	L847R	Pathogenic	1	1	71	15
MUT:NF1:Leu847Pro	PROT:P21359	NF1	L	847	P	L847P	Pathogenic/Likely pathogenic	1	6	71	15
MUT:NF1:Leu898Arg	PROT:P21359	NF1	L	898	R	L898R	Pathogenic	1	1	71	15
MUT:NF1:Leu898Gln	PROT:P21359	NF1	L	898	Q	L898Q	Likely pathogenic	1	1	71	15
MUT:NF1:Leu898Pro	PROT:P21359	NF1	L	898	P	L898P	Pathogenic/Likely pathogenic	1	2	71	15
MUT:NF1:Leu90Gln	PROT:P21359	NF1	L	90	Q	L90Q	Likely pathogenic	1	1	71	50
MUT:NF1:Leu90Pro	PROT:P21359	NF1	L	90	P	L90P	Pathogenic/Likely pathogenic	1	1	71	50
MUT:NF1:Leu929Arg	PROT:P21359	NF1	L	929	R	L929R	Pathogenic	1	1	71	3
MUT:NF1:Leu929Pro	PROT:P21359	NF1	L	929	P	L929P	Pathogenic/Likely pathogenic	1	1	71	3
MUT:NF1:Leu933Pro	PROT:P21359	NF1	L	933	P	L933P	Pathogenic/Likely pathogenic	1	1	71	7
MUT:NF1:Leu995Pro	PROT:P21359	NF1	L	995	P	L995P	Pathogenic/Likely pathogenic	1	1	71	41
MUT:NF1:Lys1099Glu	PROT:P21359	NF1	K	1099	E	K1099E	Likely pathogenic	1	1	71	63
MUT:NF1:Lys1290Asn	PROT:P21359	NF1	K	1290	N	K1290N	Likely pathogenic	1	1	71	117
MUT:NF1:Lys1440Glu	PROT:P21359	NF1	K	1440	E	K1440E	Pathogenic	1	1	71	16
MUT:NF1:Lys1444Arg	PROT:P21359	NF1	K	1444	R	K1444R	Pathogenic	1	2	71	12
MUT:NF1:Lys1444Asn	PROT:P21359	NF1	K	1444	N	K1444N	Pathogenic/Likely pathogenic	1	1	71	12
MUT:NF1:Lys1444Gln	PROT:P21359	NF1	K	1444	Q	K1444Q	Pathogenic/Likely pathogenic	1	1	71	12
MUT:NF1:Lys1444Glu	PROT:P21359	NF1	K	1444	E	K1444E	Pathogenic	1	5	71	12
MUT:NF1:Lys1444Thr	PROT:P21359	NF1	K	1444	T	K1444T	Pathogenic	1	1	71	12
MUT:NF1:Lys1457Arg	PROT:P21359	NF1	K	1457	R	K1457R	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Lys1457Asn	PROT:P21359	NF1	K	1457	N	K1457N	Pathogenic	1	1	71	1
MUT:NF1:Lys1457Gln	PROT:P21359	NF1	K	1457	Q	K1457Q	Pathogenic	1	1	71	1
MUT:NF1:Lys1457Glu	PROT:P21359	NF1	K	1457	E	K1457E	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Lys1457Thr	PROT:P21359	NF1	K	1457	T	K1457T	Likely pathogenic	1	1	71	1
MUT:NF1:Lys1529Arg	PROT:P21359	NF1	K	1529	R	K1529R	Pathogenic	1	1	71	12
MUT:NF1:Lys1771Glu	PROT:P21359	NF1	K	1771	E	K1771E	Pathogenic/Likely pathogenic	1	3	71	26
MUT:NF1:Lys2273Asn	PROT:P21359	NF1	K	2273	N	K2273N	Likely pathogenic	1	1	71	81
MUT:NF1:Lys2273Met	PROT:P21359	NF1	K	2273	M	K2273M	Pathogenic	1	1	71	81
MUT:NF1:Lys2273Thr	PROT:P21359	NF1	K	2273	T	K2273T	Likely pathogenic	1	1	71	81
MUT:NF1:Lys263Glu	PROT:P21359	NF1	K	263	E	K263E	Likely pathogenic	1	1	71	2
MUT:NF1:Lys2823Asn	PROT:P21359	NF1	K	2823	N	K2823N	Benign/Likely benign	0	1	71	6
MUT:NF1:Lys354Arg	PROT:P21359	NF1	K	354	R	K354R	Pathogenic/Likely pathogenic	1	1	71	8
MUT:NF1:Lys354Asn	PROT:P21359	NF1	K	354	N	K354N	Pathogenic/Likely pathogenic	1	1	71	8
MUT:NF1:Lys395Asn	PROT:P21359	NF1	K	395	N	K395N	Pathogenic/Likely pathogenic	1	2	71	33
MUT:NF1:Lys476Glu	PROT:P21359	NF1	K	476	E	K476E	Pathogenic	1	1	71	0
MUT:NF1:Lys505Glu	PROT:P21359	NF1	K	505	E	K505E	Likely pathogenic	1	1	71	0
MUT:NF1:Lys583Arg	PROT:P21359	NF1	K	583	R	K583R	Pathogenic/Likely pathogenic	1	2	71	9
MUT:NF1:Lys615Asn	PROT:P21359	NF1	K	615	N	K615N	Pathogenic/Likely pathogenic	1	2	71	41
MUT:NF1:Lys798Gln	PROT:P21359	NF1	K	798	Q	K798Q	Likely pathogenic	1	1	71	0
MUT:NF1:Met1035Arg	PROT:P21359	NF1	M	1035	R	M1035R	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Met1035Lys	PROT:P21359	NF1	M	1035	K	M1035K	Pathogenic/Likely pathogenic	1	2	71	1
MUT:NF1:Met1149Ile	PROT:P21359	NF1	M	1149	I	M1149I	Pathogenic/Likely pathogenic	1	1	71	20
MUT:NF1:Met1149Thr	PROT:P21359	NF1	M	1149	T	M1149T	Pathogenic	1	1	71	20
MUT:NF1:Met1149Val	PROT:P21359	NF1	M	1149	V	M1149V	Pathogenic/Likely pathogenic	1	4	71	20
MUT:NF1:Met1180Arg	PROT:P21359	NF1	M	1180	R	M1180R	Pathogenic	1	1	71	11
MUT:NF1:Met1214Arg	PROT:P21359	NF1	M	1214	R	M1214R	Pathogenic/Likely pathogenic	1	1	71	45
MUT:NF1:Met1214Lys	PROT:P21359	NF1	M	1214	K	M1214K	Likely pathogenic	1	1	71	45
MUT:NF1:Met1215Arg	PROT:P21359	NF1	M	1215	R	M1215R	Pathogenic	1	1	71	46
MUT:NF1:Met1461Lys	PROT:P21359	NF1	M	1461	K	M1461K	Pathogenic/Likely pathogenic	1	1	71	5
MUT:NF1:Met1Arg	PROT:P21359	NF1	M	1	R	M1R	Pathogenic	1	1	71	23
MUT:NF1:Met1Ile	PROT:P21359	NF1	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	71	23
MUT:NF1:Met1Leu	PROT:P21359	NF1	M	1	L	M1L	Pathogenic/Likely pathogenic	1	1	71	23
MUT:NF1:Met1Thr	PROT:P21359	NF1	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	71	23
MUT:NF1:Met1Val	PROT:P21359	NF1	M	1	V	M1V	Pathogenic	1	1	71	23
MUT:NF1:Met2213Arg	PROT:P21359	NF1	M	2213	R	M2213R	Likely pathogenic	1	1	71	21
MUT:NF1:Met242Arg	PROT:P21359	NF1	M	242	R	M242R	Pathogenic	1	1	71	19
MUT:NF1:Met349Leu	PROT:P21359	NF1	M	349	L	M349L	Benign	0	1	71	13
MUT:NF1:Met577Arg	PROT:P21359	NF1	M	577	R	M577R	Pathogenic	1	1	71	3
MUT:NF1:Met645Val	PROT:P21359	NF1	M	645	V	M645V	Benign/Likely benign	0	5	71	12
MUT:NF1:Met895Arg	PROT:P21359	NF1	M	895	R	M895R	Pathogenic/Likely pathogenic	1	1	71	12
MUT:NF1:Met895Ile	PROT:P21359	NF1	M	895	I	M895I	Likely benign	0	1	71	12
MUT:NF1:Met968Arg	PROT:P21359	NF1	M	968	R	M968R	Pathogenic/Likely pathogenic	1	2	71	42
MUT:NF1:Met991Arg	PROT:P21359	NF1	M	991	R	M991R	Likely pathogenic	1	1	71	45
MUT:NF1:Met992Arg	PROT:P21359	NF1	M	992	R	M992R	Likely pathogenic	1	1	71	44
MUT:NF1:Phe1193Cys	PROT:P21359	NF1	F	1193	C	F1193C	Pathogenic	1	1	71	24
MUT:NF1:Phe1193Leu	PROT:P21359	NF1	F	1193	L	F1193L	Pathogenic	1	1	71	24
MUT:NF1:Phe1193Ser	PROT:P21359	NF1	F	1193	S	F1193S	Pathogenic	1	1	71	24
MUT:NF1:Phe1193Tyr	PROT:P21359	NF1	F	1193	Y	F1193Y	Pathogenic/Likely pathogenic	1	1	71	24
MUT:NF1:Phe1247Ile	PROT:P21359	NF1	F	1247	I	F1247I	Likely pathogenic	1	1	71	78
MUT:NF1:Phe1536Ser	PROT:P21359	NF1	F	1536	S	F1536S	Pathogenic/Likely pathogenic	1	1	71	19
MUT:NF1:Phe1536Val	PROT:P21359	NF1	F	1536	V	F1536V	Likely pathogenic	1	1	71	19
MUT:NF1:Phe1884Leu	PROT:P21359	NF1	F	1884	L	F1884L	Pathogenic/Likely pathogenic	1	2	71	139
MUT:NF1:Phe2386Ile	PROT:P21359	NF1	F	2386	I	F2386I	Likely pathogenic	1	1	71	74
MUT:NF1:Phe894Ser	PROT:P21359	NF1	F	894	S	F894S	Pathogenic/Likely pathogenic	1	1	71	11
MUT:NF1:Pro1084Arg	PROT:P21359	NF1	P	1084	R	P1084R	Pathogenic/Likely pathogenic	1	2	71	48
MUT:NF1:Pro1084Ser	PROT:P21359	NF1	P	1084	S	P1084S	Pathogenic/Likely pathogenic	1	1	71	48
MUT:NF1:Pro1222Leu	PROT:P21359	NF1	P	1222	L	P1222L	Benign/Likely benign	0	1	71	53
MUT:NF1:Pro1851Ser	PROT:P21359	NF1	P	1851	S	P1851S	Pathogenic/Likely pathogenic	1	1	71	106
MUT:NF1:Pro2282Leu	PROT:P21359	NF1	P	2282	L	P2282L	Likely pathogenic	1	1	71	90
MUT:NF1:Ser1150Pro	PROT:P21359	NF1	S	1150	P	S1150P	Pathogenic/Likely pathogenic	1	1	71	19
MUT:NF1:Ser1279Arg	PROT:P21359	NF1	S	1279	R	S1279R	Likely pathogenic	1	1	71	110
MUT:NF1:Ser1282Arg	PROT:P21359	NF1	S	1282	R	S1282R	Pathogenic	1	1	71	113
MUT:NF1:Ser1420Pro	PROT:P21359	NF1	S	1420	P	S1420P	Likely pathogenic	1	1	71	13
MUT:NF1:Ser1489Gly	PROT:P21359	NF1	S	1489	G	S1489G	Pathogenic	1	1	71	28
MUT:NF1:Ser1500Gly	PROT:P21359	NF1	S	1500	G	S1500G	Pathogenic	1	1	71	17
MUT:NF1:Ser1599Tyr	PROT:P21359	NF1	S	1599	Y	S1599Y	Pathogenic/Likely pathogenic	1	1	71	18
MUT:NF1:Ser2018Arg	PROT:P21359	NF1	S	2018	R	S2018R	Pathogenic/Likely pathogenic	1	2	71	31
MUT:NF1:Ser2018Asn	PROT:P21359	NF1	S	2018	N	S2018N	Pathogenic/Likely pathogenic	1	1	71	31
MUT:NF1:Ser2018Ile	PROT:P21359	NF1	S	2018	I	S2018I	Likely pathogenic	1	1	71	31
MUT:NF1:Ser47Phe	PROT:P21359	NF1	S	47	F	S47F	Likely pathogenic	1	1	71	7
MUT:NF1:Ser47Pro	PROT:P21359	NF1	S	47	P	S47P	Pathogenic/Likely pathogenic	1	1	71	7
MUT:NF1:Ser574Asn	PROT:P21359	NF1	S	574	N	S574N	Pathogenic/Likely pathogenic	1	3	71	0
MUT:NF1:Ser574Ile	PROT:P21359	NF1	S	574	I	S574I	Pathogenic/Likely pathogenic	1	1	71	0
MUT:NF1:Ser574Thr	PROT:P21359	NF1	S	574	T	S574T	Pathogenic	1	3	71	0
MUT:NF1:Ser807Asn	PROT:P21359	NF1	S	807	N	S807N	Likely benign	0	1	71	0
MUT:NF1:Ser82Phe	PROT:P21359	NF1	S	82	F	S82F	Pathogenic/Likely pathogenic	1	1	71	42
MUT:NF1:Ser82Pro	PROT:P21359	NF1	S	82	P	S82P	Pathogenic/Likely pathogenic	1	1	71	42
MUT:NF1:Ser82Tyr	PROT:P21359	NF1	S	82	Y	S82Y	Pathogenic	1	1	71	42
MUT:NF1:Thr1175Ala	PROT:P21359	NF1	T	1175	A	T1175A	Pathogenic/Likely pathogenic	1	1	71	6
MUT:NF1:Thr1191Arg	PROT:P21359	NF1	T	1191	R	T1191R	Pathogenic/Likely pathogenic	1	1	71	22
MUT:NF1:Thr1191Pro	PROT:P21359	NF1	T	1191	P	T1191P	Pathogenic	1	1	71	22
MUT:NF1:Thr1191Ser	PROT:P21359	NF1	T	1191	S	T1191S	Pathogenic/Likely pathogenic	1	1	71	22
MUT:NF1:Thr1199Pro	PROT:P21359	NF1	T	1199	P	T1199P	Likely pathogenic	1	1	71	30
MUT:NF1:Thr1630Pro	PROT:P21359	NF1	T	1630	P	T1630P	Likely pathogenic	1	1	71	49
MUT:NF1:Thr1646Pro	PROT:P21359	NF1	T	1646	P	T1646P	Pathogenic	1	1	71	55
MUT:NF1:Thr1800Pro	PROT:P21359	NF1	T	1800	P	T1800P	Likely pathogenic	1	1	71	55
MUT:NF1:Thr1923Arg	PROT:P21359	NF1	T	1923	R	T1923R	Pathogenic/Likely pathogenic	1	2	71	126
MUT:NF1:Thr1923Ser	PROT:P21359	NF1	T	1923	S	T1923S	Likely pathogenic	1	1	71	126
MUT:NF1:Thr2135Ile	PROT:P21359	NF1	T	2135	I	T2135I	Pathogenic/Likely pathogenic	1	1	71	53
MUT:NF1:Thr2409Arg	PROT:P21359	NF1	T	2409	R	T2409R	Likely pathogenic	1	1	71	51
MUT:NF1:Thr408Ala	PROT:P21359	NF1	T	408	A	T408A	Likely benign	0	1	71	41
MUT:NF1:Thr59Pro	PROT:P21359	NF1	T	59	P	T59P	Likely pathogenic	1	2	71	19
MUT:NF1:Thr780Arg	PROT:P21359	NF1	T	780	R	T780R	Pathogenic/Likely pathogenic	1	2	71	3
MUT:NF1:Thr780Lys	PROT:P21359	NF1	T	780	K	T780K	Pathogenic/Likely pathogenic	1	1	71	3
MUT:NF1:Thr780Pro	PROT:P21359	NF1	T	780	P	T780P	Pathogenic/Likely pathogenic	1	1	71	3
MUT:NF1:Thr841Pro	PROT:P21359	NF1	T	841	P	T841P	Pathogenic/Likely pathogenic	1	1	71	21
MUT:NF1:Trp1048Arg	PROT:P21359	NF1	W	1048	R	W1048R	Pathogenic	1	1	71	12
MUT:NF1:Trp1048Gly	PROT:P21359	NF1	W	1048	G	W1048G	Pathogenic	1	1	71	12
MUT:NF1:Trp1236Arg	PROT:P21359	NF1	W	1236	R	W1236R	Likely pathogenic	1	1	71	67
MUT:NF1:Trp1258Arg	PROT:P21359	NF1	W	1258	R	W1258R	Pathogenic/Likely pathogenic	1	1	71	89
MUT:NF1:Trp1314Arg	PROT:P21359	NF1	W	1314	R	W1314R	Benign/Likely benign	0	1	71	93
MUT:NF1:Trp1952Arg	PROT:P21359	NF1	W	1952	R	W1952R	Pathogenic/Likely pathogenic	1	2	71	97
MUT:NF1:Trp2229Arg	PROT:P21359	NF1	W	2229	R	W2229R	Pathogenic/Likely pathogenic	1	2	71	37
MUT:NF1:Trp2229Gly	PROT:P21359	NF1	W	2229	G	W2229G	Likely pathogenic	1	1	71	37
MUT:NF1:Trp223Arg	PROT:P21359	NF1	W	223	R	W223R	Pathogenic/Likely pathogenic	1	1	71	38
MUT:NF1:Trp2317Arg	PROT:P21359	NF1	W	2317	R	W2317R	Likely pathogenic	1	1	71	125
MUT:NF1:Trp777Arg	PROT:P21359	NF1	W	777	R	W777R	Pathogenic/Likely pathogenic	1	2	71	6
MUT:NF1:Trp777Gly	PROT:P21359	NF1	W	777	G	W777G	Pathogenic/Likely pathogenic	1	1	71	6
MUT:NF1:Trp777Ser	PROT:P21359	NF1	W	777	S	W777S	Pathogenic/Likely pathogenic	1	1	71	6
MUT:NF1:Trp784Arg	PROT:P21359	NF1	W	784	R	W784R	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Trp784Cys	PROT:P21359	NF1	W	784	C	W784C	Pathogenic/Likely pathogenic	1	1	71	1
MUT:NF1:Trp784Gly	PROT:P21359	NF1	W	784	G	W784G	Likely pathogenic	1	1	71	1
MUT:NF1:Trp837Arg	PROT:P21359	NF1	W	837	R	W837R	Likely pathogenic	1	2	71	25
MUT:NF1:Trp837Gly	PROT:P21359	NF1	W	837	G	W837G	Pathogenic/Likely pathogenic	1	1	71	25
MUT:NF1:Tyr1169Asn	PROT:P21359	NF1	Y	1169	N	Y1169N	Pathogenic	1	1	71	0
MUT:NF1:Tyr1639Asn	PROT:P21359	NF1	Y	1639	N	Y1639N	Pathogenic	1	1	71	58
MUT:NF1:Tyr1639Asp	PROT:P21359	NF1	Y	1639	D	Y1639D	Likely pathogenic	1	1	71	58
MUT:NF1:Tyr1678Asp	PROT:P21359	NF1	Y	1678	D	Y1678D	Likely pathogenic	1	1	71	23
MUT:NF1:Tyr2192Asn	PROT:P21359	NF1	Y	2192	N	Y2192N	Pathogenic	1	1	71	0
MUT:NF1:Tyr489Cys	PROT:P21359	NF1	Y	489	C	Y489C	Pathogenic	1	9	71	2
MUT:NF1:Val1093Glu	PROT:P21359	NF1	V	1093	E	V1093E	Pathogenic/Likely pathogenic	1	1	71	57
MUT:NF1:Val1093Met	PROT:P21359	NF1	V	1093	M	V1093M	Pathogenic	1	1	71	57
MUT:NF1:Val1146Leu	PROT:P21359	NF1	V	1146	L	V1146L	Likely pathogenic	1	1	71	23
MUT:NF1:Val1146Phe	PROT:P21359	NF1	V	1146	F	V1146F	Pathogenic/Likely pathogenic	1	1	71	23
MUT:NF1:Val1182Leu	PROT:P21359	NF1	V	1182	L	V1182L	Pathogenic/Likely pathogenic	1	1	71	13
MUT:NF1:Val1182Phe	PROT:P21359	NF1	V	1182	F	V1182F	Pathogenic/Likely pathogenic	1	1	71	13
MUT:NF1:Val1419Asp	PROT:P21359	NF1	V	1419	D	V1419D	Likely pathogenic	1	1	71	12
MUT:NF1:Val1468Gly	PROT:P21359	NF1	V	1468	G	V1468G	Likely pathogenic	1	1	71	12
MUT:NF1:Val1627Asp	PROT:P21359	NF1	V	1627	D	V1627D	Pathogenic/Likely pathogenic	1	1	71	46
MUT:NF1:Val2391Asp	PROT:P21359	NF1	V	2391	D	V2391D	Likely pathogenic	1	1	71	69
MUT:NF1:Val2511Leu	PROT:P21359	NF1	V	2511	L	V2511L	Benign/Likely benign	0	3	71	3
MUT:NF1:Val2603Ile	PROT:P21359	NF1	V	2603	I	V2603I	Benign/Likely benign	0	1	71	6
MUT:NF1:Val289Leu	PROT:P21359	NF1	V	289	L	V289L	Likely benign	0	1	71	8
MUT:NF1:Val54Asp	PROT:P21359	NF1	V	54	D	V54D	Pathogenic	1	1	71	14
MUT:NF1:Val630Glu	PROT:P21359	NF1	V	630	E	V630E	Likely benign	0	1	71	27
MUT:NF1:Val917Asp	PROT:P21359	NF1	V	917	D	V917D	Likely pathogenic	1	1	71	2
MUT:NF1:Val917Gly	PROT:P21359	NF1	V	917	G	V917G	Likely pathogenic	1	1	71	2
MUT:NF1:Val951Phe	PROT:P21359	NF1	V	951	F	V951F	Pathogenic/Likely pathogenic	1	2	71	25
MUT:NF2:Asn220Tyr	PROT:P35240	NF2	N	220	Y	N220Y	Pathogenic	1	2	33	10
MUT:NF2:Gln538Pro	PROT:P35240	NF2	Q	538	P	Q538P	Pathogenic	1	1	33	5
MUT:NF2:Glu463Lys	PROT:P35240	NF2	E	463	K	E463K	Benign/Likely benign	0	2	33	8
MUT:NF2:Ile68Met	PROT:P35240	NF2	I	68	M	I68M	Likely benign	0	1	33	12
MUT:NF2:Leu360Pro	PROT:P35240	NF2	L	360	P	L360P	Pathogenic	1	1	33	4
MUT:NF2:Leu517Pro	PROT:P35240	NF2	L	517	P	L517P	Pathogenic/Likely pathogenic	1	2	33	1
MUT:NF2:Leu535Pro	PROT:P35240	NF2	L	535	P	L535P	Pathogenic	1	1	33	2
MUT:NF2:Leu542His	PROT:P35240	NF2	L	542	H	L542H	Likely pathogenic	1	1	33	1
MUT:NF2:Leu64Pro	PROT:P35240	NF2	L	64	P	L64P	Likely pathogenic	1	1	33	16
MUT:NF2:Met484Thr	PROT:P35240	NF2	M	484	T	M484T	Benign/Likely benign	0	3	33	7
MUT:NF2:Val589Glu	PROT:P35240	NF2	V	589	E	V589E	Likely benign	0	1	33	2
MUT:NFAT5:Ala1520Ser	PROT:O94916	NFAT5	A	1520	S	A1520S	Likely benign	0	1	33	273
MUT:NFAT5:Ala566Gly	PROT:O94916	NFAT5	A	566	G	A566G	Benign	0	2	33	10
MUT:NFAT5:Asn837Ser	PROT:O94916	NFAT5	N	837	S	N837S	Likely benign	0	2	33	153
MUT:NFAT5:Gln1251Arg	PROT:O94916	NFAT5	Q	1251	R	Q1251R	Benign	0	2	33	4
MUT:NFAT5:Val130Met	PROT:O94916	NFAT5	V	130	M	V130M	Benign	0	1	33	4
MUT:NFIA:Arg116Gly	PROT:Q12857	NFIA	R	116	G	R116G	Likely pathogenic	1	1	31	29
MUT:NFIA:Asp109Tyr	PROT:Q12857	NFIA	D	109	Y	D109Y	Likely pathogenic	1	1	31	36
MUT:NFIA:Asp118His	PROT:Q12857	NFIA	D	118	H	D118H	Likely pathogenic	1	1	31	27
MUT:NFIA:Asp124Gly	PROT:Q12857	NFIA	D	124	G	D124G	Likely pathogenic	1	1	31	21
MUT:NFIA:Asp199Glu	PROT:Q12857	NFIA	D	199	E	D199E	Likely benign	0	1	31	54
MUT:NFIA:Lys125Glu	PROT:Q12857	NFIA	K	125	E	K125E	Pathogenic	1	1	31	20
MUT:NFIA:Ser216Thr	PROT:Q12857	NFIA	S	216	T	S216T	Likely benign	0	1	31	40
MUT:NFIA:Thr8Ser	PROT:Q12857	NFIA	T	8	S	T8S	Likely benign	0	1	31	137
MUT:NFIA:Val14Met	PROT:Q12857	NFIA	V	14	M	V14M	Likely benign	0	1	31	131
MUT:NFIB:Arg39Cys	PROT:O00712	NFIB	R	39	C	R39C	Pathogenic/Likely pathogenic	1	1	34	11
MUT:NFIB:Arg85Leu	PROT:O00712	NFIB	R	85	L	R85L	Likely benign	0	1	34	15
MUT:NFIB:Gly418Ser	PROT:O00712	NFIB	G	418	S	G418S	Likely benign	0	1	34	5
MUT:NFIB:Ile24Phe	PROT:O00712	NFIB	I	24	F	I24F	Benign	0	1	34	20
MUT:NFIB:Leu132Pro	PROT:O00712	NFIB	L	132	P	L132P	Pathogenic/Likely pathogenic	1	1	34	20
MUT:NFIB:Lys114Glu	PROT:O00712	NFIB	K	114	E	K114E	Likely pathogenic	1	1	34	2
MUT:NFIB:Lys114Thr	PROT:O00712	NFIB	K	114	T	K114T	Pathogenic	1	1	34	2
MUT:NFIB:Lys126Glu	PROT:O00712	NFIB	K	126	E	K126E	Pathogenic/Likely pathogenic	1	2	34	14
MUT:NFIB:Pro285Ser	PROT:O00712	NFIB	P	285	S	P285S	Likely benign	0	1	34	1
MUT:NFIB:Pro319Thr	PROT:O00712	NFIB	P	319	T	P319T	Likely benign	0	1	34	6
MUT:NFIB:Pro66Ala	PROT:O00712	NFIB	P	66	A	P66A	Benign	0	1	34	8
MUT:NFIB:Thr431Ser	PROT:O00712	NFIB	T	431	S	T431S	Likely benign	0	1	34	18
MUT:NFIB:Val257Leu	PROT:O00712	NFIB	V	257	L	V257L	Likely benign	0	1	34	5
MUT:NFIB:Val422Leu	PROT:O00712	NFIB	V	422	L	V422L	Likely benign	0	1	34	9
MUT:NFIL3:Met170Ile	PROT:Q16649	NFIL3	M	170	I	M170I	Likely benign	0	1	15	54
MUT:NFIL3:Met26Leu	PROT:Q16649	NFIL3	M	26	L	M26L	Likely benign	0	1	15	90
MUT:NFIX:Arg115Gln	PROT:Q14938	NFIX	R	115	Q	R115Q	Pathogenic/Likely pathogenic	1	1	5	51
MUT:NFIX:Arg115Leu	PROT:Q14938	NFIX	R	115	L	R115L	Likely pathogenic	1	1	5	51
MUT:NFIX:Arg115Trp	PROT:Q14938	NFIX	R	115	W	R115W	Likely pathogenic	1	1	5	51
MUT:NFIX:Arg116Gln	PROT:Q14938	NFIX	R	116	Q	R116Q	Pathogenic/Likely pathogenic	1	2	5	52
MUT:NFIX:Arg116Leu	PROT:Q14938	NFIX	R	116	L	R116L	Pathogenic	1	1	5	52
MUT:NFIX:Arg116Trp	PROT:Q14938	NFIX	R	116	W	R116W	Pathogenic	1	2	5	52
MUT:NFIX:Arg121Pro	PROT:Q14938	NFIX	R	121	P	R121P	Pathogenic	1	1	5	57
MUT:NFIX:Arg128Gln	PROT:Q14938	NFIX	R	128	Q	R128Q	Likely pathogenic	1	1	5	64
MUT:NFIX:Arg128Trp	PROT:Q14938	NFIX	R	128	W	R128W	Pathogenic	1	1	5	64
MUT:NFIX:Arg38His	PROT:Q14938	NFIX	R	38	H	R38H	Pathogenic/Likely pathogenic	1	1	5	2
MUT:NFIX:Asp109Tyr	PROT:Q14938	NFIX	D	109	Y	D109Y	Pathogenic/Likely pathogenic	1	1	5	45
MUT:NFIX:Asp118Asn	PROT:Q14938	NFIX	D	118	N	D118N	Likely pathogenic	1	1	5	54
MUT:NFIX:Cys156Ser	PROT:Q14938	NFIX	C	156	S	C156S	Likely pathogenic	1	1	5	92
MUT:NFIX:Gly139Glu	PROT:Q14938	NFIX	G	139	E	G139E	Pathogenic	1	1	5	75
MUT:NFIX:Leu60Pro	PROT:Q14938	NFIX	L	60	P	L60P	Pathogenic	1	1	5	3
MUT:NFIX:Leu79Pro	PROT:Q14938	NFIX	L	79	P	L79P	Pathogenic	1	1	5	15
MUT:NFIX:Lys113Glu	PROT:Q14938	NFIX	K	113	E	K113E	Likely pathogenic	1	2	5	49
MUT:NFIX:Met48Arg	PROT:Q14938	NFIX	M	48	R	M48R	Pathogenic	1	1	5	8
MUT:NFIX:Met48Lys	PROT:Q14938	NFIX	M	48	K	M48K	Pathogenic/Likely pathogenic	1	1	5	8
MUT:NFIX:Ser106Phe	PROT:Q14938	NFIX	S	106	F	S106F	Pathogenic/Likely pathogenic	1	1	5	42
MUT:NFIX:Ser106Pro	PROT:Q14938	NFIX	S	106	P	S106P	Likely pathogenic	1	1	5	42
MUT:NFIX:Trp127Cys	PROT:Q14938	NFIX	W	127	C	W127C	Likely pathogenic	1	1	5	63
MUT:NFIX:Trp30Arg	PROT:Q14938	NFIX	W	30	R	W30R	Likely pathogenic	1	1	5	10
MUT:NFKB1:Ala36Pro	PROT:P19838	NFKB1	A	36	P	A36P	Likely benign	0	1	38	27
MUT:NFKB1:Arg198His	PROT:P19838	NFKB1	R	198	H	R198H	Likely benign	0	1	38	42
MUT:NFKB1:Arg534His	PROT:P19838	NFKB1	R	534	H	R534H	Benign/Likely benign	0	1	38	2
MUT:NFKB1:Cys88Phe	PROT:P19838	NFKB1	C	88	F	C88F	Pathogenic	1	1	38	8
MUT:NFKB1:His712Gln	PROT:P19838	NFKB1	H	712	Q	H712Q	Benign/Likely benign	0	4	38	47
MUT:NFKB1:Ile281Met	PROT:P19838	NFKB1	I	281	M	I281M	Pathogenic	1	1	38	5
MUT:NFKB1:Ile463Thr	PROT:P19838	NFKB1	I	463	T	I463T	Likely benign	0	1	38	14
MUT:NFKB1:Ile87Ser	PROT:P19838	NFKB1	I	87	S	I87S	Pathogenic	1	2	38	7
MUT:NFKB1:Leu615Phe	PROT:P19838	NFKB1	L	615	F	L615F	Benign/Likely benign	0	1	38	9
MUT:NFKB1:Met507Val	PROT:P19838	NFKB1	M	507	V	M507V	Benign/Likely benign	0	1	38	29
MUT:NFKB1:Pro222Ala	PROT:P19838	NFKB1	P	222	A	P222A	Likely benign	0	1	38	18
MUT:NFKB1:Thr567Ile	PROT:P19838	NFKB1	T	567	I	T567I	Benign	0	1	38	31
MUT:NFKB1:Val330Met	PROT:P19838	NFKB1	V	330	M	V330M	Likely pathogenic	1	1	38	2
MUT:NFKB1:Val98Asp	PROT:P19838	NFKB1	V	98	D	V98D	Pathogenic	1	1	38	18
MUT:NFKBIA:Arg264Gln	PROT:P25963	NFKBIA	R	264	Q	R264Q	Likely benign	0	1	17	19
MUT:NFKBIA:Arg314His	PROT:P25963	NFKBIA	R	314	H	R314H	Benign	0	1	17	9
MUT:NFKBIA:Asn109Ser	PROT:P25963	NFKBIA	N	109	S	N109S	Benign	0	1	17	19
MUT:NFKBIA:Asn180Thr	PROT:P25963	NFKBIA	N	180	T	N180T	Likely benign	0	1	17	90
MUT:NFKBIA:Asn229Asp	PROT:P25963	NFKBIA	N	229	D	N229D	Likely benign	0	1	17	54
MUT:NFKBIA:Glu51Lys	PROT:P25963	NFKBIA	E	51	K	E51K	Benign	0	1	17	4
MUT:NFKBIA:Gly194Ala	PROT:P25963	NFKBIA	G	194	A	G194A	Benign/Likely benign	0	2	17	89
MUT:NFKBIA:Gly74Ala	PROT:P25963	NFKBIA	G	74	A	G74A	Benign/Likely benign	0	2	17	7
MUT:NFKBIA:His193Asn	PROT:P25963	NFKBIA	H	193	N	H193N	Benign	0	1	17	90
MUT:NFKBIA:Leu187Pro	PROT:P25963	NFKBIA	L	187	P	L187P	Likely benign	0	1	17	96
MUT:NFKBIA:Leu34Pro	PROT:P25963	NFKBIA	L	34	P	L34P	Pathogenic	1	1	17	2
MUT:NFKBIA:Lys47Arg	PROT:P25963	NFKBIA	K	47	R	K47R	Benign	0	1	17	0
MUT:NFKBIA:Met1Thr	PROT:P25963	NFKBIA	M	1	T	M1T	Likely benign	0	1	17	20
MUT:NFKBIA:Pro170Arg	PROT:P25963	NFKBIA	P	170	R	P170R	Benign	0	1	17	80
MUT:NFKBIA:Ser283Cys	PROT:P25963	NFKBIA	S	283	C	S283C	Likely benign	0	1	17	0
MUT:NFKBIA:Ser288Gly	PROT:P25963	NFKBIA	S	288	G	S288G	Likely benign	0	1	17	0
MUT:NFKBIA:Ser32Arg	PROT:P25963	NFKBIA	S	32	R	S32R	Pathogenic	1	1	17	0
MUT:NFKBIA:Ser32Asn	PROT:P25963	NFKBIA	S	32	N	S32N	Pathogenic	1	1	17	0
MUT:NFKBIA:Ser32Gly	PROT:P25963	NFKBIA	S	32	G	S32G	Pathogenic	1	1	17	0
MUT:NFKBIA:Ser32Ile	PROT:P25963	NFKBIA	S	32	I	S32I	Pathogenic	1	1	17	0
MUT:NFKBIA:Ser36Ala	PROT:P25963	NFKBIA	S	36	A	S36A	Likely pathogenic	1	1	17	0
MUT:NFKBIA:Ser36Tyr	PROT:P25963	NFKBIA	S	36	Y	S36Y	Pathogenic	1	1	17	0
MUT:NFKBIA:Thr185Met	PROT:P25963	NFKBIA	T	185	M	T185M	Benign	0	1	17	95
MUT:NFKBIA:Val160Met	PROT:P25963	NFKBIA	V	160	M	V160M	Likely benign	0	1	17	70
MUT:NFKBIA:Val203Met	PROT:P25963	NFKBIA	V	203	M	V203M	Likely benign	0	1	17	80
MUT:NFKBIL1:Arg224Cys	PROT:Q9UBC1	NFKBIL1	R	224	C	R224C	Benign	0	1	3	12
MUT:NFKBIL1:Arg251Gln	PROT:Q9UBC1	NFKBIL1	R	251	Q	R251Q	Benign	0	1	3	2
MUT:NFKBIL1:Arg272Gly	PROT:Q9UBC1	NFKBIL1	R	272	G	R272G	Likely benign	0	1	3	19
MUT:NFXL1:Arg432Cys	PROT:Q6ZNB6	NFXL1	R	432	C	R432C	Likely benign	0	1	27	12
MUT:NFXL1:Arg569His	PROT:Q6ZNB6	NFXL1	R	569	H	R569H	Benign	0	1	27	15
MUT:NFXL1:Asn150Lys	PROT:Q6ZNB6	NFXL1	N	150	K	N150K	Benign	0	1	27	41
MUT:NFXL1:Pro246Leu	PROT:Q6ZNB6	NFXL1	P	246	L	P246L	Benign	0	1	27	36
MUT:NFXL1:Thr753Arg	PROT:Q6ZNB6	NFXL1	T	753	R	T753R	Benign	0	1	27	10
MUT:NFXL1:Thr907Ala	PROT:Q6ZNB6	NFXL1	T	907	A	T907A	Benign	0	1	27	57
MUT:NGF:Ala35Val	PROT:P01138	NGF	A	35	V	A35V	Benign	0	1	1	49
MUT:NGF:Ala58Val	PROT:P01138	NGF	A	58	V	A58V	Benign/Likely benign	0	2	1	26
MUT:NGF:Arg221Trp	PROT:P01138	NGF	R	221	W	R221W	Likely pathogenic	1	1	1	137
MUT:NGF:Arg80Gln	PROT:P01138	NGF	R	80	Q	R80Q	Benign/Likely benign	0	2	1	4
MUT:NGF:Arg95His	PROT:P01138	NGF	R	95	H	R95H	Likely benign	0	1	1	11
MUT:NGF:Val72Met	PROT:P01138	NGF	V	72	M	V72M	Benign/Likely benign	0	2	1	12
MUT:NGLY1:Ala130Thr	PROT:Q96IV0	NGLY1	A	130	T	A130T	Likely benign	0	2	21	7
MUT:NGLY1:Arg215Gly	PROT:Q96IV0	NGLY1	R	215	G	R215G	Likely benign	0	1	21	5
MUT:NGLY1:Arg328Cys	PROT:Q96IV0	NGLY1	R	328	C	R328C	Likely pathogenic	1	2	21	28
MUT:NGLY1:Arg390Gln	PROT:Q96IV0	NGLY1	R	390	Q	R390Q	Likely pathogenic	1	1	21	4
MUT:NGLY1:Arg503His	PROT:Q96IV0	NGLY1	R	503	H	R503H	Likely benign	0	1	21	2
MUT:NGLY1:Cys283Trp	PROT:Q96IV0	NGLY1	C	283	W	C283W	Pathogenic	1	1	21	7
MUT:NGLY1:Cys286Tyr	PROT:Q96IV0	NGLY1	C	286	Y	C286Y	Likely pathogenic	1	1	21	10
MUT:NGLY1:Cys484Ser	PROT:Q96IV0	NGLY1	C	484	S	C484S	Benign/Likely benign	0	1	21	4
MUT:NGLY1:Gln97His	PROT:Q96IV0	NGLY1	Q	97	H	Q97H	Likely benign	0	1	21	3
MUT:NGLY1:Glu311Lys	PROT:Q96IV0	NGLY1	E	311	K	E311K	Pathogenic/Likely pathogenic	1	2	21	11
MUT:NGLY1:Glu356Gly	PROT:Q96IV0	NGLY1	E	356	G	E356G	Pathogenic	1	1	21	38
MUT:NGLY1:His536Gln	PROT:Q96IV0	NGLY1	H	536	Q	H536Q	Likely benign	0	1	21	35
MUT:NGLY1:His601Arg	PROT:Q96IV0	NGLY1	H	601	R	H601R	Likely benign	0	1	21	17
MUT:NGLY1:Ile105Ser	PROT:Q96IV0	NGLY1	I	105	S	I105S	Likely pathogenic	1	1	21	5
MUT:NGLY1:Ile527Val	PROT:Q96IV0	NGLY1	I	527	V	I527V	Likely benign	0	1	21	26
MUT:NGLY1:Phe237Ser	PROT:Q96IV0	NGLY1	F	237	S	F237S	Pathogenic	1	1	21	27
MUT:NGLY1:Thr479Ile	PROT:Q96IV0	NGLY1	T	479	I	T479I	Benign/Likely benign	0	1	21	2
MUT:NGLY1:Trp244Arg	PROT:Q96IV0	NGLY1	W	244	R	W244R	Pathogenic	1	1	21	28
MUT:NGLY1:Tyr342Cys	PROT:Q96IV0	NGLY1	Y	342	C	Y342C	Pathogenic/Likely pathogenic	1	2	21	42
MUT:NGLY1:Val184Phe	PROT:Q96IV0	NGLY1	V	184	F	V184F	Benign/Likely benign	0	2	21	7
MUT:NHLRC2:Ala285Thr	PROT:Q8NBF2	NHLRC2	A	285	T	A285T	Benign	0	1	10	70
MUT:NHLRC2:Asn519Ser	PROT:Q8NBF2	NHLRC2	N	519	S	N519S	Likely benign	0	1	10	48
MUT:NHLRC2:Asp148Tyr	PROT:Q8NBF2	NHLRC2	D	148	Y	D148Y	Pathogenic	1	2	10	15
MUT:NHLRC2:Asp372Gly	PROT:Q8NBF2	NHLRC2	D	372	G	D372G	Likely benign	0	1	10	34
MUT:NHLRC2:Asp75Val	PROT:Q8NBF2	NHLRC2	D	75	V	D75V	Pathogenic	1	1	10	52
MUT:NHLRC2:Glu562Lys	PROT:Q8NBF2	NHLRC2	E	562	K	E562K	Benign	0	1	10	5
MUT:NHLRC2:Gly353Asp	PROT:Q8NBF2	NHLRC2	G	353	D	G353D	Likely benign	0	1	10	53
MUT:NHLRC2:His143Pro	PROT:Q8NBF2	NHLRC2	H	143	P	H143P	Pathogenic	1	1	10	10
MUT:NHLRC2:Ile679Val	PROT:Q8NBF2	NHLRC2	I	679	V	I679V	Benign	0	1	10	83
MUT:NHLRC2:Leu15Val	PROT:Q8NBF2	NHLRC2	L	15	V	L15V	Likely benign	0	1	10	112
MUT:NHLRC2:Met145Val	PROT:Q8NBF2	NHLRC2	M	145	V	M145V	Likely benign	0	1	10	12
MUT:NHLRC2:Pro338Leu	PROT:Q8NBF2	NHLRC2	P	338	L	P338L	Pathogenic	1	1	10	68
MUT:NHLRC2:Val314Ile	PROT:Q8NBF2	NHLRC2	V	314	I	V314I	Benign	0	1	10	92
MUT:NHP2:Ala118Thr	PROT:Q9NX24	NHP2	A	118	T	A118T	Benign/Likely benign	0	2	7	3
MUT:NHP2:Arg101Gln	PROT:Q9NX24	NHP2	R	101	Q	R101Q	Benign/Likely benign	0	3	7	10
MUT:NHP2:Tyr139His	PROT:Q9NX24	NHP2	Y	139	H	Y139H	Pathogenic	1	2	7	18
MUT:NHP2:Val126Met	PROT:Q9NX24	NHP2	V	126	M	V126M	Pathogenic	1	2	7	5
MUT:NHSL1:Ile395Val	PROT:Q5SYE7	NHSL1	I	395	V	I395V	Likely benign	0	1	19	67
MUT:NIN:Ala996Val	PROT:Q8N4C6	NIN	A	996	V	A996V	Likely benign	0	6	33	149
MUT:NIN:Arg1999Cys	PROT:Q8N4C6	NIN	R	1999	C	R1999C	Likely benign	0	2	33	29
MUT:NIN:Asp520His	PROT:Q8N4C6	NIN	D	520	H	D520H	Benign	0	1	33	17
MUT:NIN:Gln1125Pro	PROT:Q8N4C6	NIN	Q	1125	P	Q1125P	Benign	0	1	33	20
MUT:NIN:Gln1222Arg	PROT:Q8N4C6	NIN	Q	1222	R	Q1222R	Likely benign	0	1	33	4
MUT:NIN:Gln1934Glu	PROT:Q8N4C6	NIN	Q	1934	E	Q1934E	Benign	0	1	33	3
MUT:NIN:Glu1622Asp	PROT:Q8N4C6	NIN	E	1622	D	E1622D	Benign/Likely benign	0	2	33	16
MUT:NIN:Gly1320Glu	PROT:Q8N4C6	NIN	G	1320	E	G1320E	Benign	0	1	33	83
MUT:NIN:His1382Asp	PROT:Q8N4C6	NIN	H	1382	D	H1382D	Benign	0	1	33	21
MUT:NIN:His691Arg	PROT:Q8N4C6	NIN	H	691	R	H691R	Benign	0	1	33	18
MUT:NIN:Ile1430Leu	PROT:Q8N4C6	NIN	I	1430	L	I1430L	Likely benign	0	1	33	27
MUT:NIN:Leu1713Pro	PROT:Q8N4C6	NIN	L	1713	P	L1713P	Likely benign	0	1	33	6
MUT:NIN:Pro1111Ala	PROT:Q8N4C6	NIN	P	1111	A	P1111A	Benign	0	1	33	34
MUT:NIN:Ser91Leu	PROT:Q8N4C6	NIN	S	91	L	S91L	Likely benign	0	1	33	6
MUT:NIN:Val1152Phe	PROT:Q8N4C6	NIN	V	1152	F	V1152F	Benign	0	1	33	5
MUT:NIPBL:Ala1246Gly	PROT:Q6KC79	NIPBL	A	1246	G	A1246G	Pathogenic	1	1	126	1
MUT:NIPBL:Ala1792Pro	PROT:Q6KC79	NIPBL	A	1792	P	A1792P	Likely pathogenic	1	1	126	53
MUT:NIPBL:Ala179Thr	PROT:Q6KC79	NIPBL	A	179	T	A179T	Benign/Likely benign	0	1	126	3
MUT:NIPBL:Ala2338Pro	PROT:Q6KC79	NIPBL	A	2338	P	A2338P	Pathogenic/Likely pathogenic	1	1	126	1
MUT:NIPBL:Ala2390Thr	PROT:Q6KC79	NIPBL	A	2390	T	A2390T	Pathogenic/Likely pathogenic	1	2	126	43
MUT:NIPBL:Ala2390Val	PROT:Q6KC79	NIPBL	A	2390	V	A2390V	Likely pathogenic	1	1	126	43
MUT:NIPBL:Ala2436Thr	PROT:Q6KC79	NIPBL	A	2436	T	A2436T	Likely pathogenic	1	1	126	54
MUT:NIPBL:Ala2436Val	PROT:Q6KC79	NIPBL	A	2436	V	A2436V	Pathogenic	1	1	126	54
MUT:NIPBL:Ala2531Val	PROT:Q6KC79	NIPBL	A	2531	V	A2531V	Likely benign	0	1	126	16
MUT:NIPBL:Ala2645Val	PROT:Q6KC79	NIPBL	A	2645	V	A2645V	Benign	0	1	126	6
MUT:NIPBL:Ala2725Pro	PROT:Q6KC79	NIPBL	A	2725	P	A2725P	Likely pathogenic	1	1	126	41
MUT:NIPBL:Ala445Thr	PROT:Q6KC79	NIPBL	A	445	T	A445T	Likely benign	0	1	126	39
MUT:NIPBL:Arg1068His	PROT:Q6KC79	NIPBL	R	1068	H	R1068H	Likely benign	0	1	126	9
MUT:NIPBL:Arg1120His	PROT:Q6KC79	NIPBL	R	1120	H	R1120H	Likely benign	0	1	126	24
MUT:NIPBL:Arg1145His	PROT:Q6KC79	NIPBL	R	1145	H	R1145H	Likely benign	0	1	126	5
MUT:NIPBL:Arg1147Gln	PROT:Q6KC79	NIPBL	R	1147	Q	R1147Q	Likely pathogenic	1	1	126	3
MUT:NIPBL:Arg1474Thr	PROT:Q6KC79	NIPBL	R	1474	T	R1474T	Likely pathogenic	1	1	126	35
MUT:NIPBL:Arg1828Pro	PROT:Q6KC79	NIPBL	R	1828	P	R1828P	Likely pathogenic	1	1	126	76
MUT:NIPBL:Arg1856Gly	PROT:Q6KC79	NIPBL	R	1856	G	R1856G	Likely pathogenic	1	1	126	48
MUT:NIPBL:Arg1856Ile	PROT:Q6KC79	NIPBL	R	1856	I	R1856I	Pathogenic	1	1	126	48
MUT:NIPBL:Arg1895Thr	PROT:Q6KC79	NIPBL	R	1895	T	R1895T	Likely pathogenic	1	1	126	9
MUT:NIPBL:Arg2152Pro	PROT:Q6KC79	NIPBL	R	2152	P	R2152P	Likely pathogenic	1	1	126	10
MUT:NIPBL:Arg2298Cys	PROT:Q6KC79	NIPBL	R	2298	C	R2298C	Pathogenic	1	1	126	39
MUT:NIPBL:Arg2298Gly	PROT:Q6KC79	NIPBL	R	2298	G	R2298G	Pathogenic/Likely pathogenic	1	1	126	39
MUT:NIPBL:Arg2298His	PROT:Q6KC79	NIPBL	R	2298	H	R2298H	Pathogenic/Likely pathogenic	1	2	126	39
MUT:NIPBL:Arg2400Pro	PROT:Q6KC79	NIPBL	R	2400	P	R2400P	Pathogenic	1	1	126	53
MUT:NIPBL:Arg2504Gln	PROT:Q6KC79	NIPBL	R	2504	Q	R2504Q	Likely benign	0	1	126	5
MUT:NIPBL:Arg479Gly	PROT:Q6KC79	NIPBL	R	479	G	R479G	Likely pathogenic	1	1	126	21
MUT:NIPBL:Arg629Gln	PROT:Q6KC79	NIPBL	R	629	Q	R629Q	Benign/Likely benign	0	2	126	13
MUT:NIPBL:Arg743His	PROT:Q6KC79	NIPBL	R	743	H	R743H	Benign/Likely benign	0	1	126	14
MUT:NIPBL:Asn1316Ser	PROT:Q6KC79	NIPBL	N	1316	S	N1316S	Likely benign	0	1	126	27
MUT:NIPBL:Asn1823Asp	PROT:Q6KC79	NIPBL	N	1823	D	N1823D	Likely pathogenic	1	1	126	81
MUT:NIPBL:Asn2236Asp	PROT:Q6KC79	NIPBL	N	2236	D	N2236D	Likely pathogenic	1	1	126	1
MUT:NIPBL:Asn2434Ser	PROT:Q6KC79	NIPBL	N	2434	S	N2434S	Likely pathogenic	1	1	126	56
MUT:NIPBL:Asn2603Tyr	PROT:Q6KC79	NIPBL	N	2603	Y	N2603Y	Likely benign	0	2	126	12
MUT:NIPBL:Asn384Ser	PROT:Q6KC79	NIPBL	N	384	S	N384S	Benign/Likely benign	0	1	126	6
MUT:NIPBL:Asn393Ser	PROT:Q6KC79	NIPBL	N	393	S	N393S	Likely benign	0	1	126	13
MUT:NIPBL:Asn415Asp	PROT:Q6KC79	NIPBL	N	415	D	N415D	Likely benign	0	1	126	9
MUT:NIPBL:Asn60Ser	PROT:Q6KC79	NIPBL	N	60	S	N60S	Benign/Likely benign	0	1	126	8
MUT:NIPBL:Asn626Ser	PROT:Q6KC79	NIPBL	N	626	S	N626S	Likely benign	0	1	126	10
MUT:NIPBL:Asn674Ser	PROT:Q6KC79	NIPBL	N	674	S	N674S	Benign	0	3	126	28
MUT:NIPBL:Asn852Ser	PROT:Q6KC79	NIPBL	N	852	S	N852S	Likely benign	0	1	126	22
MUT:NIPBL:Asp1288Asn	PROT:Q6KC79	NIPBL	D	1288	N	D1288N	Likely benign	0	1	126	1
MUT:NIPBL:Asp1749Asn	PROT:Q6KC79	NIPBL	D	1749	N	D1749N	Likely benign	0	1	126	10
MUT:NIPBL:Asp1822Asn	PROT:Q6KC79	NIPBL	D	1822	N	D1822N	Likely pathogenic	1	1	126	82
MUT:NIPBL:Asp1822Glu	PROT:Q6KC79	NIPBL	D	1822	E	D1822E	Likely pathogenic	1	1	126	82
MUT:NIPBL:Asp1822Gly	PROT:Q6KC79	NIPBL	D	1822	G	D1822G	Likely pathogenic	1	1	126	82
MUT:NIPBL:Asp2157Gly	PROT:Q6KC79	NIPBL	D	2157	G	D2157G	Likely pathogenic	1	1	126	5
MUT:NIPBL:Asp220His	PROT:Q6KC79	NIPBL	D	220	H	D220H	Likely benign	0	1	126	2
MUT:NIPBL:Asp499His	PROT:Q6KC79	NIPBL	D	499	H	D499H	Pathogenic	1	1	126	1
MUT:NIPBL:Asp789Glu	PROT:Q6KC79	NIPBL	D	789	E	D789E	Likely benign	0	1	126	1
MUT:NIPBL:Asp86Asn	PROT:Q6KC79	NIPBL	D	86	N	D86N	Likely benign	0	1	126	1
MUT:NIPBL:Cys1311Tyr	PROT:Q6KC79	NIPBL	C	1311	Y	C1311Y	Likely pathogenic	1	1	126	22
MUT:NIPBL:Cys1754Ser	PROT:Q6KC79	NIPBL	C	1754	S	C1754S	Likely benign	0	1	126	15
MUT:NIPBL:Gln1567Lys	PROT:Q6KC79	NIPBL	Q	1567	K	Q1567K	Likely benign	0	1	126	34
MUT:NIPBL:Gln1776Arg	PROT:Q6KC79	NIPBL	Q	1776	R	Q1776R	Pathogenic	1	1	126	37
MUT:NIPBL:Gln1776Leu	PROT:Q6KC79	NIPBL	Q	1776	L	Q1776L	Likely pathogenic	1	1	126	37
MUT:NIPBL:Gln1911Pro	PROT:Q6KC79	NIPBL	Q	1911	P	Q1911P	Likely pathogenic	1	1	126	7
MUT:NIPBL:Gln2366Pro	PROT:Q6KC79	NIPBL	Q	2366	P	Q2366P	Pathogenic	1	1	126	19
MUT:NIPBL:Gln547Arg	PROT:Q6KC79	NIPBL	Q	547	R	Q547R	Likely benign	0	1	126	6
MUT:NIPBL:Glu1647Gly	PROT:Q6KC79	NIPBL	E	1647	G	E1647G	Likely benign	0	1	126	5
MUT:NIPBL:Glu2496Asp	PROT:Q6KC79	NIPBL	E	2496	D	E2496D	Likely benign	0	1	126	2
MUT:NIPBL:Glu655Asp	PROT:Q6KC79	NIPBL	E	655	D	E655D	Benign/Likely benign	0	1	126	9
MUT:NIPBL:Glu799Gly	PROT:Q6KC79	NIPBL	E	799	G	E799G	Likely benign	0	1	126	9
MUT:NIPBL:Gly1363Arg	PROT:Q6KC79	NIPBL	G	1363	R	G1363R	Likely pathogenic	1	1	126	74
MUT:NIPBL:Gly15Arg	PROT:Q6KC79	NIPBL	G	15	R	G15R	Pathogenic/Likely pathogenic	1	1	126	53
MUT:NIPBL:Gly1836Asp	PROT:Q6KC79	NIPBL	G	1836	D	G1836D	Pathogenic	1	1	126	68
MUT:NIPBL:Gly2081Val	PROT:Q6KC79	NIPBL	G	2081	V	G2081V	Likely pathogenic	1	1	126	56
MUT:NIPBL:Gly2115Ser	PROT:Q6KC79	NIPBL	G	2115	S	G2115S	Likely pathogenic	1	1	126	22
MUT:NIPBL:Gly2197Glu	PROT:Q6KC79	NIPBL	G	2197	E	G2197E	Pathogenic	1	1	126	26
MUT:NIPBL:Gly2312Val	PROT:Q6KC79	NIPBL	G	2312	V	G2312V	Likely pathogenic	1	1	126	25
MUT:NIPBL:Gly2360Asp	PROT:Q6KC79	NIPBL	G	2360	D	G2360D	Likely pathogenic	1	1	126	13
MUT:NIPBL:Gly2360Val	PROT:Q6KC79	NIPBL	G	2360	V	G2360V	Pathogenic	1	1	126	13
MUT:NIPBL:Gly2381Arg	PROT:Q6KC79	NIPBL	G	2381	R	G2381R	Pathogenic	1	1	126	34
MUT:NIPBL:Gly2381Ser	PROT:Q6KC79	NIPBL	G	2381	S	G2381S	Likely pathogenic	1	1	126	34
MUT:NIPBL:Gly290Ser	PROT:Q6KC79	NIPBL	G	290	S	G290S	Likely pathogenic	1	1	126	6
MUT:NIPBL:Gly980Glu	PROT:Q6KC79	NIPBL	G	980	E	G980E	Likely benign	0	1	126	20
MUT:NIPBL:His2552Leu	PROT:Q6KC79	NIPBL	H	2552	L	H2552L	Likely pathogenic	1	1	126	2
MUT:NIPBL:His721Tyr	PROT:Q6KC79	NIPBL	H	721	Y	H721Y	Likely benign	0	1	126	3
MUT:NIPBL:His782Tyr	PROT:Q6KC79	NIPBL	H	782	Y	H782Y	Likely benign	0	1	126	8
MUT:NIPBL:Ile1031Met	PROT:Q6KC79	NIPBL	I	1031	M	I1031M	Likely benign	0	1	126	2
MUT:NIPBL:Ile1273Ser	PROT:Q6KC79	NIPBL	I	1273	S	I1273S	Likely pathogenic	1	1	126	2
MUT:NIPBL:Ile1756Val	PROT:Q6KC79	NIPBL	I	1756	V	I1756V	Likely benign	0	1	126	17
MUT:NIPBL:Ile459Arg	PROT:Q6KC79	NIPBL	I	459	R	I459R	Benign/Likely benign	0	1	126	41
MUT:NIPBL:Ile92Val	PROT:Q6KC79	NIPBL	I	92	V	I92V	Likely benign	0	1	126	7
MUT:NIPBL:Leu1233Ser	PROT:Q6KC79	NIPBL	L	1233	S	L1233S	Likely pathogenic	1	1	126	10
MUT:NIPBL:Leu1610Pro	PROT:Q6KC79	NIPBL	L	1610	P	L1610P	Likely pathogenic	1	1	126	1
MUT:NIPBL:Leu1931Phe	PROT:Q6KC79	NIPBL	L	1931	F	L1931F	Likely benign	0	1	126	27
MUT:NIPBL:Leu2053Pro	PROT:Q6KC79	NIPBL	L	2053	P	L2053P	Likely pathogenic	1	1	126	69
MUT:NIPBL:Leu2057Pro	PROT:Q6KC79	NIPBL	L	2057	P	L2057P	Likely pathogenic	1	1	126	73
MUT:NIPBL:Leu2073Gln	PROT:Q6KC79	NIPBL	L	2073	Q	L2073Q	Pathogenic	1	1	126	64
MUT:NIPBL:Leu2092Arg	PROT:Q6KC79	NIPBL	L	2092	R	L2092R	Likely pathogenic	1	1	126	45
MUT:NIPBL:Leu2150Val	PROT:Q6KC79	NIPBL	L	2150	V	L2150V	Pathogenic	1	1	126	12
MUT:NIPBL:Leu2176Pro	PROT:Q6KC79	NIPBL	L	2176	P	L2176P	Likely pathogenic	1	1	126	14
MUT:NIPBL:Leu2287Pro	PROT:Q6KC79	NIPBL	L	2287	P	L2287P	Likely pathogenic	1	1	126	50
MUT:NIPBL:Leu2546Pro	PROT:Q6KC79	NIPBL	L	2546	P	L2546P	Pathogenic/Likely pathogenic	1	1	126	8
MUT:NIPBL:Leu2553Trp	PROT:Q6KC79	NIPBL	L	2553	W	L2553W	Likely pathogenic	1	1	126	1
MUT:NIPBL:Leu2795Pro	PROT:Q6KC79	NIPBL	L	2795	P	L2795P	Likely pathogenic	1	1	126	20
MUT:NIPBL:Leu651Pro	PROT:Q6KC79	NIPBL	L	651	P	L651P	Likely benign	0	1	126	5
MUT:NIPBL:Leu69Pro	PROT:Q6KC79	NIPBL	L	69	P	L69P	Likely pathogenic	1	1	126	1
MUT:NIPBL:Lys1732Arg	PROT:Q6KC79	NIPBL	K	1732	R	K1732R	Likely benign	0	1	126	1
MUT:NIPBL:Lys2257Glu	PROT:Q6KC79	NIPBL	K	2257	E	K2257E	Likely benign	0	1	126	22
MUT:NIPBL:Lys2566Arg	PROT:Q6KC79	NIPBL	K	2566	R	K2566R	Likely benign	0	1	126	0
MUT:NIPBL:Lys2605Arg	PROT:Q6KC79	NIPBL	K	2605	R	K2605R	Likely benign	0	1	126	14
MUT:NIPBL:Lys2611Arg	PROT:Q6KC79	NIPBL	K	2611	R	K2611R	Likely pathogenic	1	1	126	20
MUT:NIPBL:Lys2758Arg	PROT:Q6KC79	NIPBL	K	2758	R	K2758R	Likely benign	0	1	126	17
MUT:NIPBL:Lys493Glu	PROT:Q6KC79	NIPBL	K	493	E	K493E	Likely pathogenic	1	1	126	7
MUT:NIPBL:Lys498Glu	PROT:Q6KC79	NIPBL	K	498	E	K498E	Likely pathogenic	1	1	126	2
MUT:NIPBL:Lys603Gln	PROT:Q6KC79	NIPBL	K	603	Q	K603Q	Likely benign	0	2	126	6
MUT:NIPBL:Lys662Arg	PROT:Q6KC79	NIPBL	K	662	R	K662R	Benign/Likely benign	0	1	126	16
MUT:NIPBL:Lys662Asn	PROT:Q6KC79	NIPBL	K	662	N	K662N	Benign	0	1	126	16
MUT:NIPBL:Met1301Arg	PROT:Q6KC79	NIPBL	M	1301	R	M1301R	Likely pathogenic	1	1	126	12
MUT:NIPBL:Met1Ile	PROT:Q6KC79	NIPBL	M	1	I	M1I	Pathogenic	1	1	126	67
MUT:NIPBL:Met1Lys	PROT:Q6KC79	NIPBL	M	1	K	M1K	Pathogenic/Likely pathogenic	1	1	126	67
MUT:NIPBL:Met2042Val	PROT:Q6KC79	NIPBL	M	2042	V	M2042V	Likely benign	0	1	126	58
MUT:NIPBL:Met2207Thr	PROT:Q6KC79	NIPBL	M	2207	T	M2207T	Pathogenic/Likely pathogenic	1	1	126	16
MUT:NIPBL:Met2267Arg	PROT:Q6KC79	NIPBL	M	2267	R	M2267R	Likely pathogenic	1	1	126	32
MUT:NIPBL:Met2326Arg	PROT:Q6KC79	NIPBL	M	2326	R	M2326R	Pathogenic	1	1	126	11
MUT:NIPBL:Phe2156Cys	PROT:Q6KC79	NIPBL	F	2156	C	F2156C	Pathogenic	1	1	126	6
MUT:NIPBL:Pro1151Leu	PROT:Q6KC79	NIPBL	P	1151	L	P1151L	Likely benign	0	1	126	1
MUT:NIPBL:Pro2056Thr	PROT:Q6KC79	NIPBL	P	2056	T	P2056T	Likely pathogenic	1	1	126	72
MUT:NIPBL:Pro226Leu	PROT:Q6KC79	NIPBL	P	226	L	P226L	Likely benign	0	2	126	2
MUT:NIPBL:Pro2532Leu	PROT:Q6KC79	NIPBL	P	2532	L	P2532L	Likely benign	0	1	126	17
MUT:NIPBL:Ser2013Asn	PROT:Q6KC79	NIPBL	S	2013	N	S2013N	Likely pathogenic	1	1	126	29
MUT:NIPBL:Ser2205Gly	PROT:Q6KC79	NIPBL	S	2205	G	S2205G	Likely benign	0	1	126	18
MUT:NIPBL:Ser2276Arg	PROT:Q6KC79	NIPBL	S	2276	R	S2276R	Pathogenic	1	1	126	41
MUT:NIPBL:Ser261Ala	PROT:Q6KC79	NIPBL	S	261	A	S261A	Benign	0	1	126	5
MUT:NIPBL:Ser2733Asn	PROT:Q6KC79	NIPBL	S	2733	N	S2733N	Likely benign	0	1	126	42
MUT:NIPBL:Ser698Pro	PROT:Q6KC79	NIPBL	S	698	P	S698P	Likely benign	0	1	126	4
MUT:NIPBL:Thr1313Pro	PROT:Q6KC79	NIPBL	T	1313	P	T1313P	Likely pathogenic	1	1	126	24
MUT:NIPBL:Thr1734Ile	PROT:Q6KC79	NIPBL	T	1734	I	T1734I	Likely pathogenic	1	1	126	0
MUT:NIPBL:Thr2068Pro	PROT:Q6KC79	NIPBL	T	2068	P	T2068P	Pathogenic	1	1	126	69
MUT:NIPBL:Thr441Ala	PROT:Q6KC79	NIPBL	T	441	A	T441A	Likely benign	0	1	126	35
MUT:NIPBL:Trp1914Ser	PROT:Q6KC79	NIPBL	W	1914	S	W1914S	Pathogenic	1	1	126	10
MUT:NIPBL:Tyr2216His	PROT:Q6KC79	NIPBL	Y	2216	H	Y2216H	Pathogenic/Likely pathogenic	1	1	126	7
MUT:NIPBL:Tyr2430Cys	PROT:Q6KC79	NIPBL	Y	2430	C	Y2430C	Pathogenic	1	1	126	60
MUT:NIPBL:Tyr2430His	PROT:Q6KC79	NIPBL	Y	2430	H	Y2430H	Likely pathogenic	1	1	126	60
MUT:NIPBL:Val1441Leu	PROT:Q6KC79	NIPBL	V	1441	L	V1441L	Pathogenic	1	1	126	2
MUT:NIPBL:Val1975Phe	PROT:Q6KC79	NIPBL	V	1975	F	V1975F	Likely pathogenic	1	1	126	9
MUT:NIPBL:Val1979Gly	PROT:Q6KC79	NIPBL	V	1979	G	V1979G	Likely pathogenic	1	1	126	5
MUT:NIPBL:Val2084Leu	PROT:Q6KC79	NIPBL	V	2084	L	V2084L	Likely pathogenic	1	1	126	53
MUT:NIPBL:Val2089Gly	PROT:Q6KC79	NIPBL	V	2089	G	V2089G	Likely pathogenic	1	1	126	48
MUT:NIPBL:Val2106Leu	PROT:Q6KC79	NIPBL	V	2106	L	V2106L	Likely pathogenic	1	2	126	31
MUT:NIPBL:Val2147Gly	PROT:Q6KC79	NIPBL	V	2147	G	V2147G	Likely pathogenic	1	1	126	10
MUT:NIPBL:Val2233Met	PROT:Q6KC79	NIPBL	V	2233	M	V2233M	Pathogenic/Likely pathogenic	1	2	126	2
MUT:NIPBL:Val631Leu	PROT:Q6KC79	NIPBL	V	631	L	V631L	Benign/Likely benign	0	2	126	15
MUT:NKX2-1:Ala146Thr	PROT:P43699	NKX2-1	A	146	T	A146T	Likely pathogenic	1	1	4	38
MUT:NKX2-1:Ala365Ser	PROT:P43699	NKX2-1	A	365	S	A365S	Benign/Likely benign	0	2	4	29
MUT:NKX2-1:Arg10Gln	PROT:P43699	NKX2-1	R	10	Q	R10Q	Benign/Likely benign	0	3	4	13
MUT:NKX2-1:Arg195Trp	PROT:P43699	NKX2-1	R	195	W	R195W	Likely pathogenic	1	2	4	11
MUT:NKX2-1:Arg209Pro	PROT:P43699	NKX2-1	R	209	P	R209P	Pathogenic/Likely pathogenic	1	1	4	25
MUT:NKX2-1:Arg243Cys	PROT:P43699	NKX2-1	R	243	C	R243C	Pathogenic/Likely pathogenic	1	1	4	11
MUT:NKX2-1:Arg243Pro	PROT:P43699	NKX2-1	R	243	P	R243P	Likely pathogenic	1	1	4	11
MUT:NKX2-1:Arg243Ser	PROT:P43699	NKX2-1	R	243	S	R243S	Pathogenic	1	1	4	11
MUT:NKX2-1:Gln202Leu	PROT:P43699	NKX2-1	Q	202	L	Q202L	Likely pathogenic	1	1	4	18
MUT:NKX2-1:Gln234Leu	PROT:P43699	NKX2-1	Q	234	L	Q234L	Likely pathogenic	1	1	4	20
MUT:NKX2-1:His242Asp	PROT:P43699	NKX2-1	H	242	D	H242D	Likely pathogenic	1	1	4	12
MUT:NKX2-1:Ile237Met	PROT:P43699	NKX2-1	I	237	M	I237M	Pathogenic	1	1	4	17
MUT:NKX2-1:Leu206Gln	PROT:P43699	NKX2-1	L	206	Q	L206Q	Pathogenic	1	1	4	22
MUT:NKX2-1:Leu224Met	PROT:P43699	NKX2-1	L	224	M	L224M	Likely pathogenic	1	1	4	30
MUT:NKX2-1:Leu224Pro	PROT:P43699	NKX2-1	L	224	P	L224P	Likely pathogenic	1	1	4	30
MUT:NKX2-1:Pro232Leu	PROT:P43699	NKX2-1	P	232	L	P232L	Pathogenic/Likely pathogenic	1	1	4	22
MUT:NKX2-1:Pro291Arg	PROT:P43699	NKX2-1	P	291	R	P291R	Likely pathogenic	1	1	4	37
MUT:NKX2-1:Trp238Gly	PROT:P43699	NKX2-1	W	238	G	W238G	Likely pathogenic	1	1	4	16
MUT:NKX2-1:Trp238Leu	PROT:P43699	NKX2-1	W	238	L	W238L	Pathogenic/Likely pathogenic	1	3	4	16
MUT:NKX2-1:Trp238Ser	PROT:P43699	NKX2-1	W	238	S	W238S	Likely pathogenic	1	1	4	16
MUT:NKX2-1:Val179Leu	PROT:P43699	NKX2-1	V	179	L	V179L	Benign	0	2	4	5
MUT:NKX2-1:Val235Ala	PROT:P43699	NKX2-1	V	235	A	V235A	Likely pathogenic	1	1	4	19
MUT:NKX2-1:Val235Phe	PROT:P43699	NKX2-1	V	235	F	V235F	Pathogenic	1	1	4	19
MUT:NKX2-2:Pro41Ser	PROT:O95096	NKX2-2	P	41	S	P41S	Likely benign	0	1	4	96
MUT:NKX2-6:Ala129Glu	PROT:A6NCS4	NKX2-6	A	129	E	A129E	Benign/Likely benign	0	1	1	38
MUT:NKX2-6:Arg120Pro	PROT:A6NCS4	NKX2-6	R	120	P	R120P	Likely benign	0	1	1	47
MUT:NKX2-6:Asn114Ser	PROT:A6NCS4	NKX2-6	N	114	S	N114S	Likely benign	0	1	1	53
MUT:NKX2-6:Lys66Gln	PROT:A6NCS4	NKX2-6	K	66	Q	K66Q	Likely benign	0	1	1	101
MUT:NKX2-6:Phe151Leu	PROT:A6NCS4	NKX2-6	F	151	L	F151L	Likely pathogenic	1	2	1	16
MUT:NKX2-6:Pro10Arg	PROT:A6NCS4	NKX2-6	P	10	R	P10R	Likely benign	0	2	1	157
MUT:NKX2-6:Val34Met	PROT:A6NCS4	NKX2-6	V	34	M	V34M	Likely benign	0	1	1	133
MUT:NLGN3:Ala683Val	PROT:Q9NZ94	NLGN3	A	683	V	A683V	Likely benign	0	1	1	62
MUT:NLGN3:Arg617Trp	PROT:Q9NZ94	NLGN3	R	617	W	R617W	Likely pathogenic	1	1	1	128
MUT:NLGN3:Arg660Cys	PROT:Q9NZ94	NLGN3	R	660	C	R660C	Likely pathogenic	1	1	1	85
MUT:NLGN3:Asn138Ser	PROT:Q9NZ94	NLGN3	N	138	S	N138S	Likely benign	0	1	1	607
MUT:NLGN3:Gly208Arg	PROT:Q9NZ94	NLGN3	G	208	R	G208R	Likely pathogenic	1	2	1	537
MUT:NLGN3:Leu741Arg	PROT:Q9NZ94	NLGN3	L	741	R	L741R	Likely pathogenic	1	1	1	4
MUT:NLGN3:Lys82Gln	PROT:Q9NZ94	NLGN3	K	82	Q	K82Q	Likely benign	0	1	1	663
MUT:NLGN3:Met558Val	PROT:Q9NZ94	NLGN3	M	558	V	M558V	Likely pathogenic	1	1	1	187
MUT:NLGN3:Thr652Ala	PROT:Q9NZ94	NLGN3	T	652	A	T652A	Benign/Likely benign	0	1	1	93
MUT:NLGN3:Val204Ala	PROT:Q9NZ94	NLGN3	V	204	A	V204A	Pathogenic	1	1	1	541
MUT:NLGN4X:Arg583Trp	PROT:Q8N0W4	NLGN4X	R	583	W	R583W	Pathogenic	1	1	2	124
MUT:NLGN4X:Asn64Ser	PROT:Q8N0W4	NLGN4X	N	64	S	N64S	Likely benign	0	1	2	643
MUT:NLGN4X:Asp347Asn	PROT:Q8N0W4	NLGN4X	D	347	N	D347N	Likely benign	0	1	2	360
MUT:NLGN4X:Glu659Asp	PROT:Q8N0W4	NLGN4X	E	659	D	E659D	Benign/Likely benign	0	2	2	48
MUT:NLGN4X:Gly182Ser	PROT:Q8N0W4	NLGN4X	G	182	S	G182S	Likely benign	0	1	2	525
MUT:NLGN4X:Leu593Phe	PROT:Q8N0W4	NLGN4X	L	593	F	L593F	Benign/Likely benign	0	1	2	114
MUT:NLGN4X:Lys35Asn	PROT:Q8N0W4	NLGN4X	K	35	N	K35N	Likely benign	0	1	2	672
MUT:NLGN4X:Pro63Ser	PROT:Q8N0W4	NLGN4X	P	63	S	P63S	Likely benign	0	1	2	644
MUT:NLGN4X:Thr103Ala	PROT:Q8N0W4	NLGN4X	T	103	A	T103A	Likely benign	0	1	2	604
MUT:NLGN4X:Tyr138Phe	PROT:Q8N0W4	NLGN4X	Y	138	F	Y138F	Likely benign	0	1	2	569
MUT:NLGN4X:Tyr52His	PROT:Q8N0W4	NLGN4X	Y	52	H	Y52H	Likely benign	0	1	2	655
MUT:NLRC4:Ala929Ser	PROT:Q9NPP4	NLRC4	A	929	S	A929S	Benign/Likely benign	0	2	1	396
MUT:NLRC4:Ala982Gly	PROT:Q9NPP4	NLRC4	A	982	G	A982G	Likely benign	0	2	1	449
MUT:NLRC4:Asn876Lys	PROT:Q9NPP4	NLRC4	N	876	K	N876K	Likely benign	0	1	1	343
MUT:NLRC4:Cys890Arg	PROT:Q9NPP4	NLRC4	C	890	R	C890R	Benign	0	1	1	357
MUT:NLRC4:Gly211Glu	PROT:Q9NPP4	NLRC4	G	211	E	G211E	Benign/Likely benign	0	2	1	322
MUT:NLRC4:His443Pro	PROT:Q9NPP4	NLRC4	H	443	P	H443P	Pathogenic	1	1	1	90
MUT:NLRC4:Leu339Pro	PROT:Q9NPP4	NLRC4	L	339	P	L339P	Pathogenic	1	1	1	194
MUT:NLRC4:Leu339Val	PROT:Q9NPP4	NLRC4	L	339	V	L339V	Likely pathogenic	1	1	1	194
MUT:NLRC4:Leu70Phe	PROT:Q9NPP4	NLRC4	L	70	F	L70F	Likely benign	0	1	1	463
MUT:NLRC4:Lys315Glu	PROT:Q9NPP4	NLRC4	K	315	E	K315E	Likely benign	0	1	1	218
MUT:NLRC4:Phe199Leu	PROT:Q9NPP4	NLRC4	F	199	L	F199L	Likely benign	0	1	1	334
MUT:NLRC4:Ser171Phe	PROT:Q9NPP4	NLRC4	S	171	F	S171F	Likely pathogenic	1	1	1	362
MUT:NLRC4:Thr337Ser	PROT:Q9NPP4	NLRC4	T	337	S	T337S	Pathogenic	1	1	1	196
MUT:NLRC4:Trp624Arg	PROT:Q9NPP4	NLRC4	W	624	R	W624R	Benign/Likely benign	0	1	1	91
MUT:NLRC4:Val341Ala	PROT:Q9NPP4	NLRC4	V	341	A	V341A	Pathogenic	1	2	1	192
MUT:NLRC4:Val341Leu	PROT:Q9NPP4	NLRC4	V	341	L	V341L	Pathogenic	1	1	1	192
MUT:NLRC4:Val499Ala	PROT:Q9NPP4	NLRC4	V	499	A	V499A	Likely benign	0	1	1	34
MUT:NLRP12:Ala929Thr	PROT:P59046	NLRP12	A	929	T	A929T	Benign/Likely benign	0	1	2	202
MUT:NLRP12:Arg138Trp	PROT:P59046	NLRP12	R	138	W	R138W	Likely benign	0	2	2	54
MUT:NLRP12:Arg146Gly	PROT:P59046	NLRP12	R	146	G	R146G	Likely benign	0	1	2	46
MUT:NLRP12:Arg318Gly	PROT:P59046	NLRP12	R	318	G	R318G	Likely benign	0	1	2	126
MUT:NLRP12:Arg451His	PROT:P59046	NLRP12	R	451	H	R451H	Benign/Likely benign	0	2	2	259
MUT:NLRP12:Arg859Gln	PROT:P59046	NLRP12	R	859	Q	R859Q	Benign/Likely benign	0	2	2	132
MUT:NLRP12:Arg867His	PROT:P59046	NLRP12	R	867	H	R867H	Benign/Likely benign	0	1	2	140
MUT:NLRP12:Arg919Trp	PROT:P59046	NLRP12	R	919	W	R919W	Benign	0	2	2	192
MUT:NLRP12:Asn714Ser	PROT:P59046	NLRP12	N	714	S	N714S	Benign/Likely benign	0	2	2	13
MUT:NLRP12:Asp1002Asn	PROT:P59046	NLRP12	D	1002	N	D1002N	Benign/Likely benign	0	3	2	275
MUT:NLRP12:Asp142Asn	PROT:P59046	NLRP12	D	142	N	D142N	Benign/Likely benign	0	2	2	50
MUT:NLRP12:Asp294Glu	PROT:P59046	NLRP12	D	294	E	D294E	Pathogenic/Likely pathogenic	1	1	2	102
MUT:NLRP12:Gln171Arg	PROT:P59046	NLRP12	Q	171	R	Q171R	Likely benign	0	1	2	21
MUT:NLRP12:Gly39Val	PROT:P59046	NLRP12	G	39	V	G39V	Benign/Likely benign	0	2	2	153
MUT:NLRP12:Gly729Arg	PROT:P59046	NLRP12	G	729	R	G729R	Likely benign	0	2	2	2
MUT:NLRP12:Ile499Val	PROT:P59046	NLRP12	I	499	V	I499V	Likely benign	0	1	2	228
MUT:NLRP12:Leu439Gln	PROT:P59046	NLRP12	L	439	Q	L439Q	Benign	0	2	2	247
MUT:NLRP12:Lys743Gln	PROT:P59046	NLRP12	K	743	Q	K743Q	Benign/Likely benign	0	2	2	16
MUT:NLRP12:Phe402Leu	PROT:P59046	NLRP12	F	402	L	F402L	Benign/Likely benign	0	4	2	210
MUT:NLRP12:Pro319Arg	PROT:P59046	NLRP12	P	319	R	P319R	Benign/Likely benign	0	2	2	127
MUT:NLRP12:Val901Leu	PROT:P59046	NLRP12	V	901	L	V901L	Benign/Likely benign	0	2	2	174
MUT:NLRP1:Ala54Thr	PROT:Q9C000	NLRP1	A	54	T	A54T	Pathogenic	1	1	5	13
MUT:NLRP1:Ala66Val	PROT:Q9C000	NLRP1	A	66	V	A66V	Likely pathogenic	1	1	5	25
MUT:NLRP1:Arg308Gln	PROT:Q9C000	NLRP1	R	308	Q	R308Q	Benign/Likely benign	0	1	5	11
MUT:NLRP1:Arg836His	PROT:Q9C000	NLRP1	R	836	H	R836H	Benign	0	1	5	19
MUT:NLRP1:Gln397Glu	PROT:Q9C000	NLRP1	Q	397	E	Q397E	Likely benign	0	1	5	57
MUT:NLRP1:Gln533His	PROT:Q9C000	NLRP1	Q	533	H	Q533H	Likely benign	0	1	5	193
MUT:NLRP1:Gly1298Glu	PROT:Q9C000	NLRP1	G	1298	E	G1298E	Likely benign	0	1	5	443
MUT:NLRP1:Gly388Glu	PROT:Q9C000	NLRP1	G	388	E	G388E	Likely benign	0	1	5	48
MUT:NLRP1:Ile601Phe	PROT:Q9C000	NLRP1	I	601	F	I601F	Benign/Likely benign	0	1	5	254
MUT:NLRP1:Leu155His	PROT:Q9C000	NLRP1	L	155	H	L155H	Benign/Likely benign	0	4	5	114
MUT:NLRP1:Met1119Val	PROT:Q9C000	NLRP1	M	1119	V	M1119V	Benign/Likely benign	0	8	5	264
MUT:NLRP1:Met1184Val	PROT:Q9C000	NLRP1	M	1184	V	M1184V	Benign/Likely benign	0	3	5	329
MUT:NLRP1:Met77Thr	PROT:Q9C000	NLRP1	M	77	T	M77T	Pathogenic	1	1	5	36
MUT:NLRP1:Pro1214Arg	PROT:Q9C000	NLRP1	P	1214	R	P1214R	Pathogenic/Likely pathogenic	1	1	5	359
MUT:NLRP1:Ser368Thr	PROT:Q9C000	NLRP1	S	368	T	S368T	Benign/Likely benign	0	2	5	28
MUT:NLRP1:Thr755Asn	PROT:Q9C000	NLRP1	T	755	N	T755N	Pathogenic	1	1	5	100
MUT:NLRP1:Val136Ile	PROT:Q9C000	NLRP1	V	136	I	V136I	Likely benign	0	1	5	95
MUT:NLRP2:Ala1052Glu	PROT:Q9NX02	NLRP2	A	1052	E	A1052E	Benign	0	1	6	381
MUT:NLRP2:Ala131Val	PROT:Q9NX02	NLRP2	A	131	V	A131V	Likely pathogenic	1	1	6	3
MUT:NLRP2:Ala561Thr	PROT:Q9NX02	NLRP2	A	561	T	A561T	Benign	0	1	6	6
MUT:NLRP2:Ala801Thr	PROT:Q9NX02	NLRP2	A	801	T	A801T	Benign	0	1	6	130
MUT:NLRP2:Arg364Lys	PROT:Q9NX02	NLRP2	R	364	K	R364K	Likely benign	0	1	6	203
MUT:NLRP2:Arg380Cys	PROT:Q9NX02	NLRP2	R	380	C	R380C	Benign	0	2	6	187
MUT:NLRP2:Arg467Gln	PROT:Q9NX02	NLRP2	R	467	Q	R467Q	Likely benign	0	1	6	100
MUT:NLRP2:Arg576Gln	PROT:Q9NX02	NLRP2	R	576	Q	R576Q	Likely benign	0	1	6	9
MUT:NLRP2:Asp271Asn	PROT:Q9NX02	NLRP2	D	271	N	D271N	Likely benign	0	1	6	136
MUT:NLRP2:Asp492Asn	PROT:Q9NX02	NLRP2	D	492	N	D492N	Likely benign	0	1	6	75
MUT:NLRP2:Glu1032Val	PROT:Q9NX02	NLRP2	E	1032	V	E1032V	Benign	0	1	6	361
MUT:NLRP2:Glu302Gln	PROT:Q9NX02	NLRP2	E	302	Q	E302Q	Likely benign	0	1	6	167
MUT:NLRP2:Glu349Gln	PROT:Q9NX02	NLRP2	E	349	Q	E349Q	Benign	0	1	6	214
MUT:NLRP2:Glu350Gln	PROT:Q9NX02	NLRP2	E	350	Q	E350Q	Benign	0	1	6	215
MUT:NLRP2:His596Tyr	PROT:Q9NX02	NLRP2	H	596	Y	H596Y	Likely benign	0	1	6	29
MUT:NLRP2:Ile1034Val	PROT:Q9NX02	NLRP2	I	1034	V	I1034V	Benign	0	1	6	363
MUT:NLRP2:Ile1042Val	PROT:Q9NX02	NLRP2	I	1042	V	I1042V	Likely benign	0	1	6	371
MUT:NLRP2:Ile352Ser	PROT:Q9NX02	NLRP2	I	352	S	I352S	Likely benign	0	1	6	215
MUT:NLRP2:Ile354Val	PROT:Q9NX02	NLRP2	I	354	V	I354V	Likely benign	0	5	6	213
MUT:NLRP2:Met326Val	PROT:Q9NX02	NLRP2	M	326	V	M326V	Likely pathogenic	1	1	6	191
MUT:NLRP2:Phe258Ser	PROT:Q9NX02	NLRP2	F	258	S	F258S	Pathogenic	1	1	6	123
MUT:NLRP2:Phe359Leu	PROT:Q9NX02	NLRP2	F	359	L	F359L	Benign	0	1	6	208
MUT:NLRP2:Pro579Leu	PROT:Q9NX02	NLRP2	P	579	L	P579L	Likely benign	0	1	6	12
MUT:NLRP2:Ser24Arg	PROT:Q9NX02	NLRP2	S	24	R	S24R	Benign	0	1	6	83
MUT:NLRP2:Ser4Leu	PROT:Q9NX02	NLRP2	S	4	L	S4L	Benign	0	1	6	103
MUT:NLRP2:Thr221Met	PROT:Q9NX02	NLRP2	T	221	M	T221M	Benign	0	1	6	86
MUT:NLRP2:Thr406Arg	PROT:Q9NX02	NLRP2	T	406	R	T406R	Benign/Likely benign	0	1	6	161
MUT:NLRP2:Thr529Ala	PROT:Q9NX02	NLRP2	T	529	A	T529A	Benign	0	1	6	38
MUT:NLRP5:Ala1046Thr	PROT:P59047	NLRP5	A	1046	T	A1046T	Benign	0	1	2	404
MUT:NLRP5:Ala421Thr	PROT:P59047	NLRP5	A	421	T	A421T	Benign	0	1	2	213
MUT:NLRP5:Ala952Val	PROT:P59047	NLRP5	A	952	V	A952V	Benign	0	1	2	310
MUT:NLRP5:Arg1144Gln	PROT:P59047	NLRP5	R	1144	Q	R1144Q	Benign	0	1	2	502
MUT:NLRP5:Arg229His	PROT:P59047	NLRP5	R	229	H	R229H	Benign	0	1	2	405
MUT:NLRP5:Arg405His	PROT:P59047	NLRP5	R	405	H	R405H	Likely benign	0	1	2	229
MUT:NLRP5:Arg710Leu	PROT:P59047	NLRP5	R	710	L	R710L	Benign	0	1	2	68
MUT:NLRP5:Cys468Arg	PROT:P59047	NLRP5	C	468	R	C468R	Likely benign	0	1	2	166
MUT:NLRP5:Glu89Gly	PROT:P59047	NLRP5	E	89	G	E89G	Likely benign	0	1	2	545
MUT:NLRP5:His731Tyr	PROT:P59047	NLRP5	H	731	Y	H731Y	Benign	0	1	2	89
MUT:NLRP5:Leu320Phe	PROT:P59047	NLRP5	L	320	F	L320F	Likely benign	0	1	2	314
MUT:NLRP5:Met408Ile	PROT:P59047	NLRP5	M	408	I	M408I	Benign	0	1	2	226
MUT:NLRP5:Met861Thr	PROT:P59047	NLRP5	M	861	T	M861T	Benign	0	1	2	219
MUT:NLRP5:Ser1057Cys	PROT:P59047	NLRP5	S	1057	C	S1057C	Benign	0	2	2	415
MUT:NLRP5:Ser1084Gly	PROT:P59047	NLRP5	S	1084	G	S1084G	Likely benign	0	1	2	442
MUT:NLRP5:Ser1093Leu	PROT:P59047	NLRP5	S	1093	L	S1093L	Likely benign	0	1	2	451
MUT:NLRP5:Thr230Met	PROT:P59047	NLRP5	T	230	M	T230M	Likely benign	0	1	2	404
MUT:NLRP5:Val1130Ile	PROT:P59047	NLRP5	V	1130	I	V1130I	Benign	0	1	2	488
MUT:NLRP7:Ala420Thr	PROT:Q8WX94	NLRP7	A	420	T	A420T	Likely pathogenic	1	1	9	41
MUT:NLRP7:Ala481Thr	PROT:Q8WX94	NLRP7	A	481	T	A481T	Benign	0	2	9	51
MUT:NLRP7:Ala584Val	PROT:Q8WX94	NLRP7	A	584	V	A584V	Likely benign	0	1	9	52
MUT:NLRP7:Ala726Val	PROT:Q8WX94	NLRP7	A	726	V	A726V	Likely pathogenic	1	1	9	84
MUT:NLRP7:Arg156Gln	PROT:Q8WX94	NLRP7	R	156	Q	R156Q	Benign/Likely benign	0	1	9	132
MUT:NLRP7:Arg437Ser	PROT:Q8WX94	NLRP7	R	437	S	R437S	Likely benign	0	1	9	58
MUT:NLRP7:Arg693Gln	PROT:Q8WX94	NLRP7	R	693	Q	R693Q	Pathogenic	1	2	9	117
MUT:NLRP7:Arg693Pro	PROT:Q8WX94	NLRP7	R	693	P	R693P	Pathogenic	1	1	9	117
MUT:NLRP7:Arg693Trp	PROT:Q8WX94	NLRP7	R	693	W	R693W	Pathogenic	1	1	9	117
MUT:NLRP7:Arg721Trp	PROT:Q8WX94	NLRP7	R	721	W	R721W	Pathogenic	1	1	9	89
MUT:NLRP7:Arg795Cys	PROT:Q8WX94	NLRP7	R	795	C	R795C	Benign	0	2	9	15
MUT:NLRP7:Arg815His	PROT:Q8WX94	NLRP7	R	815	H	R815H	Likely benign	0	1	9	2
MUT:NLRP7:Asn913Ser	PROT:Q8WX94	NLRP7	N	913	S	N913S	Likely pathogenic	1	1	9	58
MUT:NLRP7:Cys1037Ser	PROT:Q8WX94	NLRP7	C	1037	S	C1037S	Likely benign	0	1	9	182
MUT:NLRP7:Gln310Arg	PROT:Q8WX94	NLRP7	Q	310	R	Q310R	Likely benign	0	1	9	8
MUT:NLRP7:Gln552Arg	PROT:Q8WX94	NLRP7	Q	552	R	Q552R	Likely benign	0	1	9	20
MUT:NLRP7:Glu743Lys	PROT:Q8WX94	NLRP7	E	743	K	E743K	Pathogenic/Likely pathogenic	1	1	9	67
MUT:NLRP7:Gly487Glu	PROT:Q8WX94	NLRP7	G	487	E	G487E	Benign	0	2	9	45
MUT:NLRP7:Leu311Ile	PROT:Q8WX94	NLRP7	L	311	I	L311I	Likely benign	0	1	9	7
MUT:NLRP7:Leu398Arg	PROT:Q8WX94	NLRP7	L	398	R	L398R	Pathogenic	1	1	9	19
MUT:NLRP7:Leu670Val	PROT:Q8WX94	NLRP7	L	670	V	L670V	Likely benign	0	1	9	138
MUT:NLRP7:Leu750Val	PROT:Q8WX94	NLRP7	L	750	V	L750V	Pathogenic	1	1	9	60
MUT:NLRP7:Lys511Arg	PROT:Q8WX94	NLRP7	K	511	R	K511R	Benign	0	1	9	21
MUT:NLRP7:Met427Thr	PROT:Q8WX94	NLRP7	M	427	T	M427T	Likely benign	0	1	9	48
MUT:NLRP7:Pro651Ser	PROT:Q8WX94	NLRP7	P	651	S	P651S	Pathogenic	1	1	9	119
MUT:NLRP7:Pro775Ser	PROT:Q8WX94	NLRP7	P	775	S	P775S	Likely pathogenic	1	1	9	35
MUT:NLRP7:Thr1028Ala	PROT:Q8WX94	NLRP7	T	1028	A	T1028A	Likely benign	0	1	9	173
MUT:NLRP7:Thr151Ile	PROT:Q8WX94	NLRP7	T	151	I	T151I	Likely benign	0	1	9	137
MUT:NLRP7:Thr814Arg	PROT:Q8WX94	NLRP7	T	814	R	T814R	Likely benign	0	1	9	3
MUT:NLRP7:Trp123Arg	PROT:Q8WX94	NLRP7	W	123	R	W123R	Likely benign	0	1	9	165
MUT:NLRP7:Val319Ile	PROT:Q8WX94	NLRP7	V	319	I	V319I	Benign	0	1	9	1
MUT:NLRP7:Val565Met	PROT:Q8WX94	NLRP7	V	565	M	V565M	Likely benign	0	1	9	33
MUT:NLRP7:Val604Met	PROT:Q8WX94	NLRP7	V	604	M	V604M	Likely benign	0	1	9	72
MUT:NMNAT1:Ala13Asp	PROT:Q9HAN9	NMNAT1	A	13	D	A13D	Likely pathogenic	1	1	12	6
MUT:NMNAT1:Ala147Pro	PROT:Q9HAN9	NMNAT1	A	147	P	A147P	Likely pathogenic	1	1	12	2
MUT:NMNAT1:Arg207Trp	PROT:Q9HAN9	NMNAT1	R	207	W	R207W	Pathogenic	1	3	12	1
MUT:NMNAT1:Arg227Gln	PROT:Q9HAN9	NMNAT1	R	227	Q	R227Q	Pathogenic/Likely pathogenic	1	3	12	19
MUT:NMNAT1:Arg227Trp	PROT:Q9HAN9	NMNAT1	R	227	W	R227W	Likely pathogenic	1	1	12	19
MUT:NMNAT1:Arg237Cys	PROT:Q9HAN9	NMNAT1	R	237	C	R237C	Pathogenic/Likely pathogenic	1	2	12	13
MUT:NMNAT1:Arg237Leu	PROT:Q9HAN9	NMNAT1	R	237	L	R237L	Pathogenic	1	1	12	13
MUT:NMNAT1:Arg66Trp	PROT:Q9HAN9	NMNAT1	R	66	W	R66W	Pathogenic/Likely pathogenic	1	1	12	2
MUT:NMNAT1:Asn167Ile	PROT:Q9HAN9	NMNAT1	N	167	I	N167I	Likely pathogenic	1	1	12	22
MUT:NMNAT1:Asn167Ser	PROT:Q9HAN9	NMNAT1	N	167	S	N167S	Pathogenic/Likely pathogenic	1	1	12	22
MUT:NMNAT1:Asn18Ser	PROT:Q9HAN9	NMNAT1	N	18	S	N18S	Pathogenic/Likely pathogenic	1	2	12	11
MUT:NMNAT1:Asn273Asp	PROT:Q9HAN9	NMNAT1	N	273	D	N273D	Pathogenic	1	1	12	17
MUT:NMNAT1:Asp173Gly	PROT:Q9HAN9	NMNAT1	D	173	G	D173G	Likely pathogenic	1	1	12	28
MUT:NMNAT1:Glu246Gln	PROT:Q9HAN9	NMNAT1	E	246	Q	E246Q	Likely pathogenic	1	1	12	4
MUT:NMNAT1:Glu257Lys	PROT:Q9HAN9	NMNAT1	E	257	K	E257K	Pathogenic/Likely pathogenic	1	9	12	1
MUT:NMNAT1:Glu91Lys	PROT:Q9HAN9	NMNAT1	E	91	K	E91K	Pathogenic/Likely pathogenic	1	2	12	1
MUT:NMNAT1:Ile210Thr	PROT:Q9HAN9	NMNAT1	I	210	T	I210T	Pathogenic	1	1	12	2
MUT:NMNAT1:Ile217Asn	PROT:Q9HAN9	NMNAT1	I	217	N	I217N	Likely pathogenic	1	1	12	9
MUT:NMNAT1:Ile47Asn	PROT:Q9HAN9	NMNAT1	I	47	N	I47N	Pathogenic	1	1	12	8
MUT:NMNAT1:Leu153Pro	PROT:Q9HAN9	NMNAT1	L	153	P	L153P	Likely pathogenic	1	1	12	8
MUT:NMNAT1:Leu153Val	PROT:Q9HAN9	NMNAT1	L	153	V	L153V	Pathogenic	1	1	12	8
MUT:NMNAT1:Leu239Phe	PROT:Q9HAN9	NMNAT1	L	239	F	L239F	Likely pathogenic	1	1	12	11
MUT:NMNAT1:Leu239Ser	PROT:Q9HAN9	NMNAT1	L	239	S	L239S	Pathogenic/Likely pathogenic	1	2	12	11
MUT:NMNAT1:Leu60Arg	PROT:Q9HAN9	NMNAT1	L	60	R	L60R	Likely pathogenic	1	1	12	4
MUT:NMNAT1:Met1Val	PROT:Q9HAN9	NMNAT1	M	1	V	M1V	Pathogenic	1	1	12	6
MUT:NMNAT1:Met35Thr	PROT:Q9HAN9	NMNAT1	M	35	T	M35T	Likely pathogenic	1	1	12	20
MUT:NMNAT1:Met69Leu	PROT:Q9HAN9	NMNAT1	M	69	L	M69L	Likely pathogenic	1	1	12	5
MUT:NMNAT1:Met69Val	PROT:Q9HAN9	NMNAT1	M	69	V	M69V	Pathogenic	1	1	12	5
MUT:NMNAT1:Phe163Ser	PROT:Q9HAN9	NMNAT1	F	163	S	F163S	Likely pathogenic	1	1	12	18
MUT:NMNAT1:Pro241Ser	PROT:Q9HAN9	NMNAT1	P	241	S	P241S	Pathogenic	1	1	12	9
MUT:NMNAT1:Ser162Tyr	PROT:Q9HAN9	NMNAT1	S	162	Y	S162Y	Likely pathogenic	1	1	12	17
MUT:NMNAT1:Ser255Asn	PROT:Q9HAN9	NMNAT1	S	255	N	S255N	Benign/Likely benign	0	1	12	1
MUT:NMNAT1:Trp216Ser	PROT:Q9HAN9	NMNAT1	W	216	S	W216S	Likely pathogenic	1	1	12	8
MUT:NMNAT1:Val178Met	PROT:Q9HAN9	NMNAT1	V	178	M	V178M	Likely pathogenic	1	1	12	30
MUT:NMNAT1:Val80Met	PROT:Q9HAN9	NMNAT1	V	80	M	V80M	Likely pathogenic	1	1	12	10
MUT:NMNAT1:Val82Ala	PROT:Q9HAN9	NMNAT1	V	82	A	V82A	Likely pathogenic	1	2	12	8
MUT:NMNAT1:Val82Phe	PROT:Q9HAN9	NMNAT1	V	82	F	V82F	Likely pathogenic	1	1	12	8
MUT:NMNAT1:Val98Gly	PROT:Q9HAN9	NMNAT1	V	98	G	V98G	Pathogenic/Likely pathogenic	1	3	12	8
MUT:NMNAT1:Val9Met	PROT:Q9HAN9	NMNAT1	V	9	M	V9M	Pathogenic	1	2	12	2
MUT:NOBOX:Ala356Pro	PROT:O60393	NOBOX	A	356	P	A356P	Likely benign	0	1	5	44
MUT:NOBOX:Arg187Lys	PROT:O60393	NOBOX	R	187	K	R187K	Likely benign	0	1	5	13
MUT:NOBOX:Arg243Gln	PROT:O60393	NOBOX	R	243	Q	R243Q	Likely benign	0	1	5	14
MUT:NOBOX:Arg32Trp	PROT:O60393	NOBOX	R	32	W	R32W	Benign/Likely benign	0	2	5	64
MUT:NOBOX:Arg44Leu	PROT:O60393	NOBOX	R	44	L	R44L	Benign/Likely benign	0	1	5	52
MUT:NOBOX:Arg78Gly	PROT:O60393	NOBOX	R	78	G	R78G	Likely benign	0	1	5	18
MUT:NOBOX:Asp335Asn	PROT:O60393	NOBOX	D	335	N	D335N	Benign	0	1	5	23
MUT:NOBOX:Cys516Tyr	PROT:O60393	NOBOX	C	516	Y	C516Y	Likely benign	0	1	5	72
MUT:NOBOX:Gly23Asp	PROT:O60393	NOBOX	G	23	D	G23D	Benign	0	1	5	73
MUT:NOBOX:Gly316Val	PROT:O60393	NOBOX	G	316	V	G316V	Likely pathogenic	1	1	5	4
MUT:NOBOX:Gly365Ser	PROT:O60393	NOBOX	G	365	S	G365S	Benign	0	1	5	53
MUT:NOBOX:Gly67Arg	PROT:O60393	NOBOX	G	67	R	G67R	Benign	0	1	5	29
MUT:NOBOX:Lys363Asn	PROT:O60393	NOBOX	K	363	N	K363N	Likely pathogenic	1	1	5	51
MUT:NOBOX:Lys547Arg	PROT:O60393	NOBOX	K	547	R	K547R	Benign	0	1	5	103
MUT:NOBOX:Phe400Leu	PROT:O60393	NOBOX	F	400	L	F400L	Benign	0	1	5	44
MUT:NOBOX:Pro257Ala	PROT:O60393	NOBOX	P	257	A	P257A	Likely benign	0	1	5	28
MUT:NOBOX:Pro283Leu	PROT:O60393	NOBOX	P	283	L	P283L	Likely pathogenic	1	1	5	29
MUT:NOBOX:Pro379His	PROT:O60393	NOBOX	P	379	H	P379H	Likely benign	0	1	5	65
MUT:NOBOX:Pro482His	PROT:O60393	NOBOX	P	482	H	P482H	Benign	0	1	5	38
MUT:NOBOX:Pro502Leu	PROT:O60393	NOBOX	P	502	L	P502L	Benign	0	1	5	58
MUT:NOBOX:Ser453Leu	PROT:O60393	NOBOX	S	453	L	S453L	Benign	0	1	5	9
MUT:NOBOX:Val233Leu	PROT:O60393	NOBOX	V	233	L	V233L	Pathogenic	1	1	5	4
MUT:NOL3:Asp26Tyr	PROT:O60936	NOL3	D	26	Y	D26Y	Likely benign	0	1	1	57
MUT:NOL9:Asn290Ser	PROT:Q5SY16	NOL9	N	290	S	N290S	Likely benign	0	1	13	41
MUT:NONO:Ala404Thr	PROT:Q15233	NONO	A	404	T	A404T	Benign/Likely benign	0	1	44	14
MUT:NONO:Gly391Cys	PROT:Q15233	NONO	G	391	C	G391C	Pathogenic	1	1	44	18
MUT:NONO:Met269Thr	PROT:Q15233	NONO	M	269	T	M269T	Likely benign	0	1	44	2
MUT:NOP10:Thr16Met	PROT:Q9NPE3	NOP10	T	16	M	T16M	Pathogenic	1	1	8	0
MUT:NOP14:Glu775Gln	PROT:P78316	NOP14	E	775	Q	E775Q	Likely benign	0	2	20	34
MUT:NOP56:Ala456Val	PROT:O00567	NOP56	A	456	V	A456V	Benign	0	1	34	11
MUT:NOP56:Ala460Val	PROT:O00567	NOP56	A	460	V	A460V	Likely benign	0	1	34	7
MUT:NOP56:Asp226Glu	PROT:O00567	NOP56	D	226	E	D226E	Likely benign	0	1	34	1
MUT:NOS1:Asn725Asp	PROT:P29475	NOS1	N	725	D	N725D	Benign	0	1	9	21
MUT:NOS1:Asp241Asn	PROT:P29475	NOS1	D	241	N	D241N	Benign/Likely benign	0	2	9	51
MUT:NOS1:Asp394Ala	PROT:P29475	NOS1	D	394	A	D394A	Benign/Likely benign	0	1	9	102
MUT:NOS1:Gly595Ser	PROT:P29475	NOS1	G	595	S	G595S	Benign/Likely benign	0	1	9	14
MUT:NOS1:Gly864Asp	PROT:P29475	NOS1	G	864	D	G864D	Likely benign	0	1	9	1
MUT:NOS1:Pro187Ser	PROT:P29475	NOS1	P	187	S	P187S	Likely benign	0	1	9	105
MUT:NOS1:Ser153Leu	PROT:P29475	NOS1	S	153	L	S153L	Benign	0	1	9	139
MUT:NOS1AP:Cys143Tyr	PROT:O75052	NOS1AP	C	143	Y	C143Y	Pathogenic	1	1	16	43
MUT:NOS1AP:Val335Met	PROT:O75052	NOS1AP	V	335	M	V335M	Likely benign	0	1	16	29
MUT:NOS3:Ala422Thr	PROT:P29474	NOS3	A	422	T	A422T	Likely benign	0	1	20	73
MUT:NOS3:Ala423Thr	PROT:P29474	NOS3	A	423	T	A423T	Benign	0	1	20	72
MUT:NOS3:Arg112Gln	PROT:P29474	NOS3	R	112	Q	R112Q	Benign	0	1	20	2
MUT:NOS3:Arg128Gln	PROT:P29474	NOS3	R	128	Q	R128Q	Benign	0	1	20	14
MUT:NOS3:Asp298Glu	PROT:P29474	NOS3	D	298	E	D298E	Benign	0	1	20	38
MUT:NOS3:Gln982Leu	PROT:P29474	NOS3	Q	982	L	Q982L	Likely benign	0	1	20	78
MUT:NOS3:Glu169Lys	PROT:P29474	NOS3	E	169	K	E169K	Likely pathogenic	1	1	20	55
MUT:NOS3:Pro58Ser	PROT:P29474	NOS3	P	58	S	P58S	Likely pathogenic	1	1	20	5
MUT:NOTCH1:Ala1278Val	PROT:P46531	NOTCH1	A	1278	V	A1278V	Likely benign	0	1	30	513
MUT:NOTCH1:Ala1325Thr	PROT:P46531	NOTCH1	A	1325	T	A1325T	Likely benign	0	1	30	466
MUT:NOTCH1:Ala1343Val	PROT:P46531	NOTCH1	A	1343	V	A1343V	Benign/Likely benign	0	4	30	448
MUT:NOTCH1:Ala1418Thr	PROT:P46531	NOTCH1	A	1418	T	A1418T	Benign	0	1	30	373
MUT:NOTCH1:Ala1570Val	PROT:P46531	NOTCH1	A	1570	V	A1570V	Likely benign	0	1	30	221
MUT:NOTCH1:Ala1634Thr	PROT:P46531	NOTCH1	A	1634	T	A1634T	Benign	0	1	30	157
MUT:NOTCH1:Ala1635Thr	PROT:P46531	NOTCH1	A	1635	T	A1635T	Benign	0	1	30	156
MUT:NOTCH1:Ala1640Ser	PROT:P46531	NOTCH1	A	1640	S	A1640S	Likely benign	0	1	30	151
MUT:NOTCH1:Ala1707Thr	PROT:P46531	NOTCH1	A	1707	T	A1707T	Likely benign	0	1	30	84
MUT:NOTCH1:Ala1732Pro	PROT:P46531	NOTCH1	A	1732	P	A1732P	Likely benign	0	1	30	59
MUT:NOTCH1:Ala1732Val	PROT:P46531	NOTCH1	A	1732	V	A1732V	Likely benign	0	1	30	59
MUT:NOTCH1:Ala1743Thr	PROT:P46531	NOTCH1	A	1743	T	A1743T	Likely benign	0	1	30	48
MUT:NOTCH1:Ala1869Ser	PROT:P46531	NOTCH1	A	1869	S	A1869S	Likely benign	0	1	30	8
MUT:NOTCH1:Ala1869Thr	PROT:P46531	NOTCH1	A	1869	T	A1869T	Benign	0	1	30	8
MUT:NOTCH1:Ala18Thr	PROT:P46531	NOTCH1	A	18	T	A18T	Benign	0	5	30	1773
MUT:NOTCH1:Ala1906Val	PROT:P46531	NOTCH1	A	1906	V	A1906V	Likely benign	0	1	30	6
MUT:NOTCH1:Ala1973Thr	PROT:P46531	NOTCH1	A	1973	T	A1973T	Likely benign	0	1	30	13
MUT:NOTCH1:Ala2036Thr	PROT:P46531	NOTCH1	A	2036	T	A2036T	Benign	0	1	30	38
MUT:NOTCH1:Ala2085Val	PROT:P46531	NOTCH1	A	2085	V	A2085V	Benign	0	1	30	5
MUT:NOTCH1:Ala2331Thr	PROT:P46531	NOTCH1	A	2331	T	A2331T	Benign/Likely benign	0	3	30	8
MUT:NOTCH1:Ala2374Ser	PROT:P46531	NOTCH1	A	2374	S	A2374S	Benign	0	1	30	51
MUT:NOTCH1:Ala2478Thr	PROT:P46531	NOTCH1	A	2478	T	A2478T	Benign/Likely benign	0	2	30	33
MUT:NOTCH1:Ala2548Val	PROT:P46531	NOTCH1	A	2548	V	A2548V	Benign	0	1	30	24
MUT:NOTCH1:Ala348Pro	PROT:P46531	NOTCH1	A	348	P	A348P	Likely benign	0	1	30	1443
MUT:NOTCH1:Ala39Val	PROT:P46531	NOTCH1	A	39	V	A39V	Likely benign	0	1	30	1752
MUT:NOTCH1:Ala426Val	PROT:P46531	NOTCH1	A	426	V	A426V	Benign	0	1	30	1365
MUT:NOTCH1:Ala495Thr	PROT:P46531	NOTCH1	A	495	T	A495T	Benign	0	1	30	1296
MUT:NOTCH1:Ala683Val	PROT:P46531	NOTCH1	A	683	V	A683V	Likely benign	0	1	30	1108
MUT:NOTCH1:Ala83Thr	PROT:P46531	NOTCH1	A	83	T	A83T	Benign	0	1	30	1708
MUT:NOTCH1:Ala882Val	PROT:P46531	NOTCH1	A	882	V	A882V	Likely benign	0	1	30	909
MUT:NOTCH1:Ala929Asp	PROT:P46531	NOTCH1	A	929	D	A929D	Likely benign	0	1	30	862
MUT:NOTCH1:Arg1107Gln	PROT:P46531	NOTCH1	R	1107	Q	R1107Q	Benign/Likely benign	0	2	30	684
MUT:NOTCH1:Arg112Leu	PROT:P46531	NOTCH1	R	112	L	R112L	Benign	0	1	30	1679
MUT:NOTCH1:Arg1132Cys	PROT:P46531	NOTCH1	R	1132	C	R1132C	Benign	0	1	30	659
MUT:NOTCH1:Arg1211Trp	PROT:P46531	NOTCH1	R	1211	W	R1211W	Benign	0	1	30	580
MUT:NOTCH1:Arg1263Leu	PROT:P46531	NOTCH1	R	1263	L	R1263L	Benign	0	1	30	528
MUT:NOTCH1:Arg1279His	PROT:P46531	NOTCH1	R	1279	H	R1279H	Benign/Likely benign	0	4	30	512
MUT:NOTCH1:Arg1296His	PROT:P46531	NOTCH1	R	1296	H	R1296H	Benign	0	1	30	495
MUT:NOTCH1:Arg1356His	PROT:P46531	NOTCH1	R	1356	H	R1356H	Likely benign	0	1	30	435
MUT:NOTCH1:Arg1368Cys	PROT:P46531	NOTCH1	R	1368	C	R1368C	Likely benign	0	1	30	423
MUT:NOTCH1:Arg1438Cys	PROT:P46531	NOTCH1	R	1438	C	R1438C	Likely benign	0	1	30	353
MUT:NOTCH1:Arg1608His	PROT:P46531	NOTCH1	R	1608	H	R1608H	Benign/Likely benign	0	3	30	183
MUT:NOTCH1:Arg1633Ser	PROT:P46531	NOTCH1	R	1633	S	R1633S	Likely benign	0	1	30	158
MUT:NOTCH1:Arg1672Cys	PROT:P46531	NOTCH1	R	1672	C	R1672C	Benign	0	1	30	119
MUT:NOTCH1:Arg1672His	PROT:P46531	NOTCH1	R	1672	H	R1672H	Likely benign	0	1	30	119
MUT:NOTCH1:Arg1758Cys	PROT:P46531	NOTCH1	R	1758	C	R1758C	Likely benign	0	1	30	33
MUT:NOTCH1:Arg1761Trp	PROT:P46531	NOTCH1	R	1761	W	R1761W	Likely benign	0	1	30	30
MUT:NOTCH1:Arg1926Leu	PROT:P46531	NOTCH1	R	1926	L	R1926L	Likely benign	0	1	30	15
MUT:NOTCH1:Arg1946His	PROT:P46531	NOTCH1	R	1946	H	R1946H	Benign/Likely benign	0	2	30	5
MUT:NOTCH1:Arg1982Gln	PROT:P46531	NOTCH1	R	1982	Q	R1982Q	Likely benign	0	1	30	4
MUT:NOTCH1:Arg1991Cys	PROT:P46531	NOTCH1	R	1991	C	R1991C	Likely benign	0	2	30	5
MUT:NOTCH1:Arg203His	PROT:P46531	NOTCH1	R	203	H	R203H	Likely benign	0	3	30	1588
MUT:NOTCH1:Arg2098Cys	PROT:P46531	NOTCH1	R	2098	C	R2098C	Likely benign	0	1	30	8
MUT:NOTCH1:Arg2159Cys	PROT:P46531	NOTCH1	R	2159	C	R2159C	Likely benign	0	1	30	1
MUT:NOTCH1:Arg2179Gln	PROT:P46531	NOTCH1	R	2179	Q	R2179Q	Likely benign	0	1	30	5
MUT:NOTCH1:Arg2179Pro	PROT:P46531	NOTCH1	R	2179	P	R2179P	Likely benign	0	1	30	5
MUT:NOTCH1:Arg2263Trp	PROT:P46531	NOTCH1	R	2263	W	R2263W	Likely benign	0	1	30	60
MUT:NOTCH1:Arg234His	PROT:P46531	NOTCH1	R	234	H	R234H	Benign/Likely benign	0	4	30	1557
MUT:NOTCH1:Arg23Leu	PROT:P46531	NOTCH1	R	23	L	R23L	Likely benign	0	1	30	1768
MUT:NOTCH1:Arg2549His	PROT:P46531	NOTCH1	R	2549	H	R2549H	Benign	0	1	30	25
MUT:NOTCH1:Arg448Gln	PROT:P46531	NOTCH1	R	448	Q	R448Q	Pathogenic	1	1	30	1343
MUT:NOTCH1:Arg504His	PROT:P46531	NOTCH1	R	504	H	R504H	Benign/Likely benign	0	4	30	1287
MUT:NOTCH1:Arg621His	PROT:P46531	NOTCH1	R	621	H	R621H	Benign/Likely benign	0	4	30	1170
MUT:NOTCH1:Arg780Gln	PROT:P46531	NOTCH1	R	780	Q	R780Q	Likely benign	0	1	30	1011
MUT:NOTCH1:Arg879Trp	PROT:P46531	NOTCH1	R	879	W	R879W	Benign	0	1	30	912
MUT:NOTCH1:Arg892His	PROT:P46531	NOTCH1	R	892	H	R892H	Likely benign	0	1	30	899
MUT:NOTCH1:Arg938Gln	PROT:P46531	NOTCH1	R	938	Q	R938Q	Benign/Likely benign	0	3	30	853
MUT:NOTCH1:Arg955Leu	PROT:P46531	NOTCH1	R	955	L	R955L	Likely benign	0	1	30	836
MUT:NOTCH1:Asn1023Asp	PROT:P46531	NOTCH1	N	1023	D	N1023D	Likely benign	0	1	30	768
MUT:NOTCH1:Asn104Ser	PROT:P46531	NOTCH1	N	104	S	N104S	Benign/Likely benign	0	5	30	1687
MUT:NOTCH1:Asn1226Ser	PROT:P46531	NOTCH1	N	1226	S	N1226S	Benign/Likely benign	0	2	30	565
MUT:NOTCH1:Asn1421Ser	PROT:P46531	NOTCH1	N	1421	S	N1421S	Likely benign	0	3	30	370
MUT:NOTCH1:Asn2058Asp	PROT:P46531	NOTCH1	N	2058	D	N2058D	Benign	0	1	30	16
MUT:NOTCH1:Asn2117Lys	PROT:P46531	NOTCH1	N	2117	K	N2117K	Likely benign	0	1	30	4
MUT:NOTCH1:Asn2117Tyr	PROT:P46531	NOTCH1	N	2117	Y	N2117Y	Likely benign	0	1	30	4
MUT:NOTCH1:Asn2295Ser	PROT:P46531	NOTCH1	N	2295	S	N2295S	Benign	0	1	30	28
MUT:NOTCH1:Asn265Ser	PROT:P46531	NOTCH1	N	265	S	N265S	Likely benign	0	1	30	1526
MUT:NOTCH1:Asn280Lys	PROT:P46531	NOTCH1	N	280	K	N280K	Likely benign	0	1	30	1511
MUT:NOTCH1:Asn335Lys	PROT:P46531	NOTCH1	N	335	K	N335K	Likely benign	0	1	30	1456
MUT:NOTCH1:Asn379Ser	PROT:P46531	NOTCH1	N	379	S	N379S	Benign	0	1	30	1412
MUT:NOTCH1:Asn459Ser	PROT:P46531	NOTCH1	N	459	S	N459S	Benign	0	1	30	1332
MUT:NOTCH1:Asn676Tyr	PROT:P46531	NOTCH1	N	676	Y	N676Y	Likely benign	0	1	30	1115
MUT:NOTCH1:Asn678Ser	PROT:P46531	NOTCH1	N	678	S	N678S	Likely benign	0	1	30	1113
MUT:NOTCH1:Asn956Ser	PROT:P46531	NOTCH1	N	956	S	N956S	Likely benign	0	1	30	835
MUT:NOTCH1:Asn959Thr	PROT:P46531	NOTCH1	N	959	T	N959T	Benign	0	1	30	832
MUT:NOTCH1:Asp1064Glu	PROT:P46531	NOTCH1	D	1064	E	D1064E	Likely benign	0	1	30	727
MUT:NOTCH1:Asp1517Asn	PROT:P46531	NOTCH1	D	1517	N	D1517N	Pathogenic/Likely pathogenic	1	1	30	274
MUT:NOTCH1:Asp1517His	PROT:P46531	NOTCH1	D	1517	H	D1517H	Likely pathogenic	1	1	30	274
MUT:NOTCH1:Asp1533Asn	PROT:P46531	NOTCH1	D	1533	N	D1533N	Benign	0	1	30	258
MUT:NOTCH1:Asp1815Gly	PROT:P46531	NOTCH1	D	1815	G	D1815G	Benign	0	1	30	6
MUT:NOTCH1:Asp1836Asn	PROT:P46531	NOTCH1	D	1836	N	D1836N	Benign/Likely benign	0	3	30	15
MUT:NOTCH1:Asp568Asn	PROT:P46531	NOTCH1	D	568	N	D568N	Likely benign	0	1	30	1223
MUT:NOTCH1:Asp622Asn	PROT:P46531	NOTCH1	D	622	N	D622N	Benign/Likely benign	0	2	30	1169
MUT:NOTCH1:Asp651Asn	PROT:P46531	NOTCH1	D	651	N	D651N	Benign	0	1	30	1140
MUT:NOTCH1:Asp660Asn	PROT:P46531	NOTCH1	D	660	N	D660N	Benign	0	1	30	1131
MUT:NOTCH1:Asp78Asn	PROT:P46531	NOTCH1	D	78	N	D78N	Likely benign	0	1	30	1713
MUT:NOTCH1:Asp809Asn	PROT:P46531	NOTCH1	D	809	N	D809N	Benign	0	1	30	982
MUT:NOTCH1:Asp809Glu	PROT:P46531	NOTCH1	D	809	E	D809E	Benign	0	1	30	982
MUT:NOTCH1:Asp909Asn	PROT:P46531	NOTCH1	D	909	N	D909N	Benign/Likely benign	0	2	30	882
MUT:NOTCH1:Asp932Asn	PROT:P46531	NOTCH1	D	932	N	D932N	Likely benign	0	1	30	859
MUT:NOTCH1:Cys1094Tyr	PROT:P46531	NOTCH1	C	1094	Y	C1094Y	Pathogenic	1	1	30	697
MUT:NOTCH1:Cys1374Arg	PROT:P46531	NOTCH1	C	1374	R	C1374R	Likely pathogenic	1	1	30	417
MUT:NOTCH1:Cys1479Tyr	PROT:P46531	NOTCH1	C	1479	Y	C1479Y	Likely pathogenic	1	1	30	312
MUT:NOTCH1:Cys1496Tyr	PROT:P46531	NOTCH1	C	1496	Y	C1496Y	Pathogenic/Likely pathogenic	1	2	30	295
MUT:NOTCH1:Cys429Arg	PROT:P46531	NOTCH1	C	429	R	C429R	Pathogenic/Likely pathogenic	1	1	30	1362
MUT:NOTCH1:Cys449Arg	PROT:P46531	NOTCH1	C	449	R	C449R	Likely pathogenic	1	1	30	1342
MUT:NOTCH1:Cys456Tyr	PROT:P46531	NOTCH1	C	456	Y	C456Y	Likely pathogenic	1	1	30	1335
MUT:NOTCH1:Cys833Ser	PROT:P46531	NOTCH1	C	833	S	C833S	Likely benign	0	1	30	958
MUT:NOTCH1:Gln1134Arg	PROT:P46531	NOTCH1	Q	1134	R	Q1134R	Benign/Likely benign	0	3	30	657
MUT:NOTCH1:Gln1522Glu	PROT:P46531	NOTCH1	Q	1522	E	Q1522E	Likely benign	0	1	30	269
MUT:NOTCH1:Gln1687His	PROT:P46531	NOTCH1	Q	1687	H	Q1687H	Likely pathogenic	1	1	30	104
MUT:NOTCH1:Gln1691His	PROT:P46531	NOTCH1	Q	1691	H	Q1691H	Likely benign	0	1	30	100
MUT:NOTCH1:Gln1733Pro	PROT:P46531	NOTCH1	Q	1733	P	Q1733P	Likely benign	0	1	30	58
MUT:NOTCH1:Gln1957Pro	PROT:P46531	NOTCH1	Q	1957	P	Q1957P	Benign	0	1	30	16
MUT:NOTCH1:Gln2123Pro	PROT:P46531	NOTCH1	Q	2123	P	Q2123P	Likely benign	0	1	30	2
MUT:NOTCH1:Gln2544His	PROT:P46531	NOTCH1	Q	2544	H	Q2544H	Benign	0	1	30	20
MUT:NOTCH1:Gln307Glu	PROT:P46531	NOTCH1	Q	307	E	Q307E	Likely benign	0	1	30	1484
MUT:NOTCH1:Glu1183Lys	PROT:P46531	NOTCH1	E	1183	K	E1183K	Likely benign	0	1	30	608
MUT:NOTCH1:Glu1270Lys	PROT:P46531	NOTCH1	E	1270	K	E1270K	Likely benign	0	1	30	521
MUT:NOTCH1:Glu1341Lys	PROT:P46531	NOTCH1	E	1341	K	E1341K	Benign/Likely benign	0	2	30	450
MUT:NOTCH1:Glu1382Lys	PROT:P46531	NOTCH1	E	1382	K	E1382K	Likely benign	0	1	30	409
MUT:NOTCH1:Glu1408Lys	PROT:P46531	NOTCH1	E	1408	K	E1408K	Benign	0	1	30	383
MUT:NOTCH1:Glu1446Lys	PROT:P46531	NOTCH1	E	1446	K	E1446K	Likely benign	0	1	30	345
MUT:NOTCH1:Glu1453Lys	PROT:P46531	NOTCH1	E	1453	K	E1453K	Likely benign	0	1	30	338
MUT:NOTCH1:Glu1555Val	PROT:P46531	NOTCH1	E	1555	V	E1555V	Likely benign	0	1	30	236
MUT:NOTCH1:Glu159Gln	PROT:P46531	NOTCH1	E	159	Q	E159Q	Likely benign	0	1	30	1632
MUT:NOTCH1:Glu1636Lys	PROT:P46531	NOTCH1	E	1636	K	E1636K	Benign	0	1	30	155
MUT:NOTCH1:Glu1789Lys	PROT:P46531	NOTCH1	E	1789	K	E1789K	Likely benign	0	1	30	2
MUT:NOTCH1:Glu294Lys	PROT:P46531	NOTCH1	E	294	K	E294K	Benign	0	1	30	1497
MUT:NOTCH1:Glu360Lys	PROT:P46531	NOTCH1	E	360	K	E360K	Benign	0	1	30	1431
MUT:NOTCH1:Glu383Lys	PROT:P46531	NOTCH1	E	383	K	E383K	Benign	0	1	30	1408
MUT:NOTCH1:Glu483Lys	PROT:P46531	NOTCH1	E	483	K	E483K	Likely benign	0	1	30	1308
MUT:NOTCH1:Glu488Lys	PROT:P46531	NOTCH1	E	488	K	E488K	Likely benign	0	1	30	1303
MUT:NOTCH1:Glu515Lys	PROT:P46531	NOTCH1	E	515	K	E515K	Likely benign	0	1	30	1276
MUT:NOTCH1:Glu564Lys	PROT:P46531	NOTCH1	E	564	K	E564K	Likely benign	0	1	30	1227
MUT:NOTCH1:Glu663Val	PROT:P46531	NOTCH1	E	663	V	E663V	Likely benign	0	1	30	1128
MUT:NOTCH1:Glu694Lys	PROT:P46531	NOTCH1	E	694	K	E694K	Benign/Likely benign	0	4	30	1097
MUT:NOTCH1:Glu706Lys	PROT:P46531	NOTCH1	E	706	K	E706K	Benign	0	1	30	1085
MUT:NOTCH1:Glu843Gly	PROT:P46531	NOTCH1	E	843	G	E843G	Likely benign	0	1	30	948
MUT:NOTCH1:Glu848Lys	PROT:P46531	NOTCH1	E	848	K	E848K	Benign/Likely benign	0	4	30	943
MUT:NOTCH1:Gly1039Ser	PROT:P46531	NOTCH1	G	1039	S	G1039S	Benign/Likely benign	0	4	30	752
MUT:NOTCH1:Gly1195Arg	PROT:P46531	NOTCH1	G	1195	R	G1195R	Likely benign	0	1	30	596
MUT:NOTCH1:Gly1250Ser	PROT:P46531	NOTCH1	G	1250	S	G1250S	Benign	0	1	30	541
MUT:NOTCH1:Gly1459Asp	PROT:P46531	NOTCH1	G	1459	D	G1459D	Likely benign	0	1	30	332
MUT:NOTCH1:Gly1621Ser	PROT:P46531	NOTCH1	G	1621	S	G1621S	Likely benign	0	1	30	170
MUT:NOTCH1:Gly1660Glu	PROT:P46531	NOTCH1	G	1660	E	G1660E	Likely benign	0	1	30	131
MUT:NOTCH1:Gly1894Ser	PROT:P46531	NOTCH1	G	1894	S	G1894S	Likely benign	0	1	30	3
MUT:NOTCH1:Gly193Asp	PROT:P46531	NOTCH1	G	193	D	G193D	Pathogenic	1	1	30	1598
MUT:NOTCH1:Gly200Val	PROT:P46531	NOTCH1	G	200	V	G200V	Likely pathogenic	1	1	30	1591
MUT:NOTCH1:Gly2152Arg	PROT:P46531	NOTCH1	G	2152	R	G2152R	Benign/Likely benign	0	3	30	5
MUT:NOTCH1:Gly2186Ser	PROT:P46531	NOTCH1	G	2186	S	G2186S	Likely benign	0	1	30	12
MUT:NOTCH1:Gly2291Arg	PROT:P46531	NOTCH1	G	2291	R	G2291R	Benign	0	1	30	32
MUT:NOTCH1:Gly2328Val	PROT:P46531	NOTCH1	G	2328	V	G2328V	Benign	0	1	30	5
MUT:NOTCH1:Gly2430Ala	PROT:P46531	NOTCH1	G	2430	A	G2430A	Benign/Likely benign	0	3	30	81
MUT:NOTCH1:Gly248Arg	PROT:P46531	NOTCH1	G	248	R	G248R	Likely pathogenic	1	1	30	1543
MUT:NOTCH1:Gly251Asp	PROT:P46531	NOTCH1	G	251	D	G251D	Likely benign	0	1	30	1540
MUT:NOTCH1:Gly317Arg	PROT:P46531	NOTCH1	G	317	R	G317R	Likely benign	0	1	30	1474
MUT:NOTCH1:Gly347Ser	PROT:P46531	NOTCH1	G	347	S	G347S	Likely benign	0	1	30	1444
MUT:NOTCH1:Gly42Asp	PROT:P46531	NOTCH1	G	42	D	G42D	Benign	0	1	30	1749
MUT:NOTCH1:Gly81Asp	PROT:P46531	NOTCH1	G	81	D	G81D	Likely benign	0	1	30	1710
MUT:NOTCH1:Gly841Arg	PROT:P46531	NOTCH1	G	841	R	G841R	Likely benign	0	1	30	950
MUT:NOTCH1:Gly881Ser	PROT:P46531	NOTCH1	G	881	S	G881S	Benign	0	1	30	910
MUT:NOTCH1:Gly936Ser	PROT:P46531	NOTCH1	G	936	S	G936S	Likely benign	0	2	30	855
MUT:NOTCH1:His196Arg	PROT:P46531	NOTCH1	H	196	R	H196R	Benign	0	1	30	1595
MUT:NOTCH1:His2018Gln	PROT:P46531	NOTCH1	H	2018	Q	H2018Q	Likely benign	0	1	30	32
MUT:NOTCH1:His501Gln	PROT:P46531	NOTCH1	H	501	Q	H501Q	Likely benign	0	1	30	1290
MUT:NOTCH1:His523Tyr	PROT:P46531	NOTCH1	H	523	Y	H523Y	Benign/Likely benign	0	3	30	1268
MUT:NOTCH1:His979Tyr	PROT:P46531	NOTCH1	H	979	Y	H979Y	Likely benign	0	1	30	812
MUT:NOTCH1:Ile2089Val	PROT:P46531	NOTCH1	I	2089	V	I2089V	Benign	0	1	30	1
MUT:NOTCH1:Ile2456Val	PROT:P46531	NOTCH1	I	2456	V	I2456V	Likely benign	0	2	30	55
MUT:NOTCH1:Ile2550Val	PROT:P46531	NOTCH1	I	2550	V	I2550V	Likely benign	0	5	30	26
MUT:NOTCH1:Ile258Val	PROT:P46531	NOTCH1	I	258	V	I258V	Likely benign	0	1	30	1533
MUT:NOTCH1:Leu102Met	PROT:P46531	NOTCH1	L	102	M	L102M	Likely benign	0	1	30	1689
MUT:NOTCH1:Leu1392Val	PROT:P46531	NOTCH1	L	1392	V	L1392V	Likely benign	0	1	30	399
MUT:NOTCH1:Leu1734Gln	PROT:P46531	NOTCH1	L	1734	Q	L1734Q	Likely benign	0	1	30	57
MUT:NOTCH1:Leu2258Pro	PROT:P46531	NOTCH1	L	2258	P	L2258P	Likely benign	0	1	30	65
MUT:NOTCH1:Leu2457Val	PROT:P46531	NOTCH1	L	2457	V	L2457V	Benign/Likely benign	0	4	30	54
MUT:NOTCH1:Leu590Phe	PROT:P46531	NOTCH1	L	590	F	L590F	Benign	0	1	30	1201
MUT:NOTCH1:Leu819Pro	PROT:P46531	NOTCH1	L	819	P	L819P	Likely benign	0	1	30	972
MUT:NOTCH1:Lys1170Glu	PROT:P46531	NOTCH1	K	1170	E	K1170E	Likely benign	0	1	30	621
MUT:NOTCH1:Lys1335Arg	PROT:P46531	NOTCH1	K	1335	R	K1335R	Likely benign	0	1	30	456
MUT:NOTCH1:Lys1537Glu	PROT:P46531	NOTCH1	K	1537	E	K1537E	Likely benign	0	1	30	254
MUT:NOTCH1:Lys1632Glu	PROT:P46531	NOTCH1	K	1632	E	K1632E	Likely benign	0	1	30	159
MUT:NOTCH1:Lys1781Arg	PROT:P46531	NOTCH1	K	1781	R	K1781R	Benign	0	1	30	10
MUT:NOTCH1:Lys1782Gln	PROT:P46531	NOTCH1	K	1782	Q	K1782Q	Benign	0	1	30	9
MUT:NOTCH1:Lys185Gln	PROT:P46531	NOTCH1	K	185	Q	K185Q	Likely benign	0	1	30	1606
MUT:NOTCH1:Lys2150Asn	PROT:P46531	NOTCH1	K	2150	N	K2150N	Likely benign	0	1	30	7
MUT:NOTCH1:Lys2156Glu	PROT:P46531	NOTCH1	K	2156	E	K2156E	Likely benign	0	1	30	1
MUT:NOTCH1:Lys2160Glu	PROT:P46531	NOTCH1	K	2160	E	K2160E	Benign	0	1	30	0
MUT:NOTCH1:Lys267Arg	PROT:P46531	NOTCH1	K	267	R	K267R	Likely benign	0	1	30	1524
MUT:NOTCH1:Lys631Thr	PROT:P46531	NOTCH1	K	631	T	K631T	Likely benign	0	1	30	1160
MUT:NOTCH1:Met771Val	PROT:P46531	NOTCH1	M	771	V	M771V	Benign	0	1	30	1020
MUT:NOTCH1:Phe1239Val	PROT:P46531	NOTCH1	F	1239	V	F1239V	Benign	0	1	30	552
MUT:NOTCH1:Phe1590Leu	PROT:P46531	NOTCH1	F	1590	L	F1590L	Likely benign	0	1	30	201
MUT:NOTCH1:Phe1592Cys	PROT:P46531	NOTCH1	F	1592	C	F1592C	Pathogenic	1	1	30	199
MUT:NOTCH1:Phe1693Ser	PROT:P46531	NOTCH1	F	1693	S	F1693S	Pathogenic	1	1	30	98
MUT:NOTCH1:Phe1744Leu	PROT:P46531	NOTCH1	F	1744	L	F1744L	Likely benign	0	2	30	47
MUT:NOTCH1:Pro101Thr	PROT:P46531	NOTCH1	P	101	T	P101T	Benign	0	1	30	1690
MUT:NOTCH1:Pro1256Leu	PROT:P46531	NOTCH1	P	1256	L	P1256L	Benign/Likely benign	0	3	30	535
MUT:NOTCH1:Pro1377Ser	PROT:P46531	NOTCH1	P	1377	S	P1377S	Benign/Likely benign	0	4	30	414
MUT:NOTCH1:Pro1417Arg	PROT:P46531	NOTCH1	P	1417	R	P1417R	Likely benign	0	1	30	374
MUT:NOTCH1:Pro1641Ser	PROT:P46531	NOTCH1	P	1641	S	P1641S	Benign/Likely benign	0	3	30	150
MUT:NOTCH1:Pro1907Leu	PROT:P46531	NOTCH1	P	1907	L	P1907L	Benign	0	1	30	7
MUT:NOTCH1:Pro2128Ala	PROT:P46531	NOTCH1	P	2128	A	P2128A	Likely benign	0	1	30	4
MUT:NOTCH1:Pro2133Ser	PROT:P46531	NOTCH1	P	2133	S	P2133S	Benign/Likely benign	0	4	30	1
MUT:NOTCH1:Pro2137Ser	PROT:P46531	NOTCH1	P	2137	S	P2137S	Likely benign	0	3	30	1
MUT:NOTCH1:Pro2216Leu	PROT:P46531	NOTCH1	P	2216	L	P2216L	Likely benign	0	1	30	42
MUT:NOTCH1:Pro2222Leu	PROT:P46531	NOTCH1	P	2222	L	P2222L	Benign	0	1	30	48
MUT:NOTCH1:Pro22Ser	PROT:P46531	NOTCH1	P	22	S	P22S	Benign/Likely benign	0	4	30	1769
MUT:NOTCH1:Pro2320Leu	PROT:P46531	NOTCH1	P	2320	L	P2320L	Benign	0	1	30	3
MUT:NOTCH1:Pro2334Ser	PROT:P46531	NOTCH1	P	2334	S	P2334S	Benign/Likely benign	0	2	30	11
MUT:NOTCH1:Pro2349Ala	PROT:P46531	NOTCH1	P	2349	A	P2349A	Likely benign	0	1	30	26
MUT:NOTCH1:Pro2438Ser	PROT:P46531	NOTCH1	P	2438	S	P2438S	Likely benign	0	1	30	73
MUT:NOTCH1:Pro2551Leu	PROT:P46531	NOTCH1	P	2551	L	P2551L	Benign	0	1	30	27
MUT:NOTCH1:Pro2Ala	PROT:P46531	NOTCH1	P	2	A	P2A	Benign	0	1	30	1789
MUT:NOTCH1:Pro55Leu	PROT:P46531	NOTCH1	P	55	L	P55L	Benign	0	1	30	1736
MUT:NOTCH1:Pro572His	PROT:P46531	NOTCH1	P	572	H	P572H	Benign	0	1	30	1219
MUT:NOTCH1:Pro574Leu	PROT:P46531	NOTCH1	P	574	L	P574L	Likely benign	0	1	30	1217
MUT:NOTCH1:Pro60Ser	PROT:P46531	NOTCH1	P	60	S	P60S	Benign	0	1	30	1731
MUT:NOTCH1:Pro743Ala	PROT:P46531	NOTCH1	P	743	A	P743A	Benign	0	1	30	1048
MUT:NOTCH1:Pro820His	PROT:P46531	NOTCH1	P	820	H	P820H	Likely benign	0	1	30	971
MUT:NOTCH1:Pro835Ser	PROT:P46531	NOTCH1	P	835	S	P835S	Likely benign	0	1	30	956
MUT:NOTCH1:Pro877Leu	PROT:P46531	NOTCH1	P	877	L	P877L	Benign	0	1	30	914
MUT:NOTCH1:Ser1087Arg	PROT:P46531	NOTCH1	S	1087	R	S1087R	Likely benign	0	1	30	704
MUT:NOTCH1:Ser1181Phe	PROT:P46531	NOTCH1	S	1181	F	S1181F	Likely benign	0	1	30	610
MUT:NOTCH1:Ser1326Phe	PROT:P46531	NOTCH1	S	1326	F	S1326F	Benign	0	1	30	465
MUT:NOTCH1:Ser137Leu	PROT:P46531	NOTCH1	S	137	L	S137L	Benign	0	1	30	1654
MUT:NOTCH1:Ser169Gly	PROT:P46531	NOTCH1	S	169	G	S169G	Benign/Likely benign	0	2	30	1622
MUT:NOTCH1:Ser2121Arg	PROT:P46531	NOTCH1	S	2121	R	S2121R	Likely benign	0	1	30	0
MUT:NOTCH1:Ser2121Asn	PROT:P46531	NOTCH1	S	2121	N	S2121N	Likely benign	0	1	30	0
MUT:NOTCH1:Ser2303Gly	PROT:P46531	NOTCH1	S	2303	G	S2303G	Likely benign	0	1	30	20
MUT:NOTCH1:Ser2364Gly	PROT:P46531	NOTCH1	S	2364	G	S2364G	Likely benign	0	3	30	41
MUT:NOTCH1:Ser2370Asn	PROT:P46531	NOTCH1	S	2370	N	S2370N	Likely benign	0	1	30	47
MUT:NOTCH1:Ser2471Leu	PROT:P46531	NOTCH1	S	2471	L	S2471L	Likely benign	0	1	30	40
MUT:NOTCH1:Ser746Arg	PROT:P46531	NOTCH1	S	746	R	S746R	Likely benign	0	1	30	1045
MUT:NOTCH1:Ser773Ile	PROT:P46531	NOTCH1	S	773	I	S773I	Likely benign	0	1	30	1018
MUT:NOTCH1:Ser88Asn	PROT:P46531	NOTCH1	S	88	N	S88N	Benign/Likely benign	0	4	30	1703
MUT:NOTCH1:Thr123Met	PROT:P46531	NOTCH1	T	123	M	T123M	Benign/Likely benign	0	4	30	1668
MUT:NOTCH1:Thr1344Met	PROT:P46531	NOTCH1	T	1344	M	T1344M	Likely benign	0	2	30	447
MUT:NOTCH1:Thr1379Met	PROT:P46531	NOTCH1	T	1379	M	T1379M	Likely benign	0	1	30	412
MUT:NOTCH1:Thr194Pro	PROT:P46531	NOTCH1	T	194	P	T194P	Benign/Likely benign	0	3	30	1597
MUT:NOTCH1:Thr2076Ile	PROT:P46531	NOTCH1	T	2076	I	T2076I	Likely benign	0	2	30	2
MUT:NOTCH1:Thr2297Ala	PROT:P46531	NOTCH1	T	2297	A	T2297A	Likely benign	0	1	30	26
MUT:NOTCH1:Thr232Asn	PROT:P46531	NOTCH1	T	232	N	T232N	Likely benign	0	1	30	1559
MUT:NOTCH1:Thr311Ala	PROT:P46531	NOTCH1	T	311	A	T311A	Likely benign	0	1	30	1480
MUT:NOTCH1:Thr311Pro	PROT:P46531	NOTCH1	T	311	P	T311P	Likely benign	0	1	30	1480
MUT:NOTCH1:Thr349Pro	PROT:P46531	NOTCH1	T	349	P	T349P	Benign/Likely benign	0	3	30	1442
MUT:NOTCH1:Thr491Ile	PROT:P46531	NOTCH1	T	491	I	T491I	Benign	0	1	30	1300
MUT:NOTCH1:Thr551Ile	PROT:P46531	NOTCH1	T	551	I	T551I	Likely benign	0	1	30	1240
MUT:NOTCH1:Thr586Pro	PROT:P46531	NOTCH1	T	586	P	T586P	Likely benign	0	1	30	1205
MUT:NOTCH1:Thr66Ile	PROT:P46531	NOTCH1	T	66	I	T66I	Benign/Likely benign	0	2	30	1725
MUT:NOTCH1:Thr712Ala	PROT:P46531	NOTCH1	T	712	A	T712A	Benign	0	1	30	1079
MUT:NOTCH1:Thr790Ile	PROT:P46531	NOTCH1	T	790	I	T790I	Benign	0	1	30	1001
MUT:NOTCH1:Thr822Ala	PROT:P46531	NOTCH1	T	822	A	T822A	Likely benign	0	1	30	969
MUT:NOTCH1:Thr984Met	PROT:P46531	NOTCH1	T	984	M	T984M	Benign	0	1	30	807
MUT:NOTCH1:Trp1813Ser	PROT:P46531	NOTCH1	W	1813	S	W1813S	Likely benign	0	1	30	8
MUT:NOTCH1:Tyr670Cys	PROT:P46531	NOTCH1	Y	670	C	Y670C	Likely pathogenic	1	1	30	1121
MUT:NOTCH1:Val1307Ile	PROT:P46531	NOTCH1	V	1307	I	V1307I	Benign	0	1	30	484
MUT:NOTCH1:Val1671Ile	PROT:P46531	NOTCH1	V	1671	I	V1671I	Benign/Likely benign	0	3	30	120
MUT:NOTCH1:Val1676Asp	PROT:P46531	NOTCH1	V	1676	D	V1676D	Likely pathogenic	1	1	30	115
MUT:NOTCH1:Val1792Met	PROT:P46531	NOTCH1	V	1792	M	V1792M	Likely benign	0	1	30	1
MUT:NOTCH1:Val1874Ile	PROT:P46531	NOTCH1	V	1874	I	V1874I	Benign	0	1	30	13
MUT:NOTCH1:Val1976Asp	PROT:P46531	NOTCH1	V	1976	D	V1976D	Likely pathogenic	1	1	30	10
MUT:NOTCH1:Val220Met	PROT:P46531	NOTCH1	V	220	M	V220M	Benign	0	1	30	1571
MUT:NOTCH1:Val2229Met	PROT:P46531	NOTCH1	V	2229	M	V2229M	Likely benign	0	3	30	55
MUT:NOTCH1:Val2285Ile	PROT:P46531	NOTCH1	V	2285	I	V2285I	Benign/Likely benign	0	4	30	38
MUT:NOTCH1:Val2421Met	PROT:P46531	NOTCH1	V	2421	M	V2421M	Benign	0	1	30	90
MUT:NOTCH1:Val2443Met	PROT:P46531	NOTCH1	V	2443	M	V2443M	Benign/Likely benign	0	2	30	68
MUT:NOTCH1:Val2453Met	PROT:P46531	NOTCH1	V	2453	M	V2453M	Benign/Likely benign	0	2	30	58
MUT:NOTCH1:Val2529Ile	PROT:P46531	NOTCH1	V	2529	I	V2529I	Benign/Likely benign	0	2	30	5
MUT:NOTCH1:Val457Ile	PROT:P46531	NOTCH1	V	457	I	V457I	Likely benign	0	2	30	1334
MUT:NOTCH1:Val726Ile	PROT:P46531	NOTCH1	V	726	I	V726I	Benign/Likely benign	0	2	30	1065
MUT:NOTCH1:Val76Met	PROT:P46531	NOTCH1	V	76	M	V76M	Benign	0	1	30	1715
MUT:NOTCH1:Val776Met	PROT:P46531	NOTCH1	V	776	M	V776M	Benign	0	1	30	1015
MUT:NOTCH3:Ala1020Pro	PROT:Q9UM47	NOTCH3	A	1020	P	A1020P	Benign	0	1	13	652
MUT:NOTCH3:Ala1450Thr	PROT:Q9UM47	NOTCH3	A	1450	T	A1450T	Benign/Likely benign	0	1	13	222
MUT:NOTCH3:Ala198Val	PROT:Q9UM47	NOTCH3	A	198	V	A198V	Benign/Likely benign	0	1	13	13
MUT:NOTCH3:Ala2223Val	PROT:Q9UM47	NOTCH3	A	2223	V	A2223V	Benign	0	2	13	154
MUT:NOTCH3:Ala63Thr	PROT:Q9UM47	NOTCH3	A	63	T	A63T	Pathogenic	1	1	13	21
MUT:NOTCH3:Arg1006Cys	PROT:Q9UM47	NOTCH3	R	1006	C	R1006C	Pathogenic	1	1	13	666
MUT:NOTCH3:Arg1076Cys	PROT:Q9UM47	NOTCH3	R	1076	C	R1076C	Pathogenic/Likely pathogenic	1	1	13	596
MUT:NOTCH3:Arg110Cys	PROT:Q9UM47	NOTCH3	R	110	C	R110C	Pathogenic	1	2	13	8
MUT:NOTCH3:Arg113Gln	PROT:Q9UM47	NOTCH3	R	113	Q	R113Q	Benign/Likely benign	0	1	13	5
MUT:NOTCH3:Arg1175Trp	PROT:Q9UM47	NOTCH3	R	1175	W	R1175W	Benign/Likely benign	0	2	13	497
MUT:NOTCH3:Arg133Cys	PROT:Q9UM47	NOTCH3	R	133	C	R133C	Pathogenic/Likely pathogenic	1	3	13	2
MUT:NOTCH3:Arg133Leu	PROT:Q9UM47	NOTCH3	R	133	L	R133L	Likely pathogenic	1	1	13	2
MUT:NOTCH3:Arg141Cys	PROT:Q9UM47	NOTCH3	R	141	C	R141C	Pathogenic	1	2	13	6
MUT:NOTCH3:Arg153Cys	PROT:Q9UM47	NOTCH3	R	153	C	R153C	Pathogenic	1	1	13	18
MUT:NOTCH3:Arg1560Pro	PROT:Q9UM47	NOTCH3	R	1560	P	R1560P	Benign/Likely benign	0	1	13	112
MUT:NOTCH3:Arg169Cys	PROT:Q9UM47	NOTCH3	R	169	C	R169C	Pathogenic/Likely pathogenic	1	3	13	34
MUT:NOTCH3:Arg182Cys	PROT:Q9UM47	NOTCH3	R	182	C	R182C	Pathogenic	1	2	13	29
MUT:NOTCH3:Arg1893Gln	PROT:Q9UM47	NOTCH3	R	1893	Q	R1893Q	Benign/Likely benign	0	1	13	139
MUT:NOTCH3:Arg207Cys	PROT:Q9UM47	NOTCH3	R	207	C	R207C	Pathogenic/Likely pathogenic	1	3	13	4
MUT:NOTCH3:Arg332Cys	PROT:Q9UM47	NOTCH3	R	332	C	R332C	Pathogenic	1	2	13	121
MUT:NOTCH3:Arg427Cys	PROT:Q9UM47	NOTCH3	R	427	C	R427C	Pathogenic/Likely pathogenic	1	1	13	216
MUT:NOTCH3:Arg449His	PROT:Q9UM47	NOTCH3	R	449	H	R449H	Likely pathogenic	1	1	13	238
MUT:NOTCH3:Arg532Cys	PROT:Q9UM47	NOTCH3	R	532	C	R532C	Pathogenic/Likely pathogenic	1	1	13	321
MUT:NOTCH3:Arg544Cys	PROT:Q9UM47	NOTCH3	R	544	C	R544C	Pathogenic/Likely pathogenic	1	3	13	333
MUT:NOTCH3:Arg54Cys	PROT:Q9UM47	NOTCH3	R	54	C	R54C	Pathogenic/Likely pathogenic	1	2	13	30
MUT:NOTCH3:Arg558Cys	PROT:Q9UM47	NOTCH3	R	558	C	R558C	Pathogenic/Likely pathogenic	1	2	13	347
MUT:NOTCH3:Arg558Gly	PROT:Q9UM47	NOTCH3	R	558	G	R558G	Likely benign	0	1	13	347
MUT:NOTCH3:Arg578Cys	PROT:Q9UM47	NOTCH3	R	578	C	R578C	Pathogenic/Likely pathogenic	1	3	13	367
MUT:NOTCH3:Arg587His	PROT:Q9UM47	NOTCH3	R	587	H	R587H	Benign/Likely benign	0	1	13	376
MUT:NOTCH3:Arg607Cys	PROT:Q9UM47	NOTCH3	R	607	C	R607C	Pathogenic/Likely pathogenic	1	1	13	396
MUT:NOTCH3:Arg61Trp	PROT:Q9UM47	NOTCH3	R	61	W	R61W	Likely benign	0	1	13	23
MUT:NOTCH3:Arg640Cys	PROT:Q9UM47	NOTCH3	R	640	C	R640C	Pathogenic/Likely pathogenic	1	2	13	429
MUT:NOTCH3:Arg680His	PROT:Q9UM47	NOTCH3	R	680	H	R680H	Benign/Likely benign	0	2	13	469
MUT:NOTCH3:Arg75Pro	PROT:Q9UM47	NOTCH3	R	75	P	R75P	Pathogenic/Likely pathogenic	1	1	13	9
MUT:NOTCH3:Arg90Cys	PROT:Q9UM47	NOTCH3	R	90	C	R90C	Pathogenic	1	1	13	6
MUT:NOTCH3:Arg985Cys	PROT:Q9UM47	NOTCH3	R	985	C	R985C	Pathogenic/Likely pathogenic	1	1	13	687
MUT:NOTCH3:Asp139Asn	PROT:Q9UM47	NOTCH3	D	139	N	D139N	Likely benign	0	1	13	4
MUT:NOTCH3:Asp1598Val	PROT:Q9UM47	NOTCH3	D	1598	V	D1598V	Benign/Likely benign	0	1	13	74
MUT:NOTCH3:Asp2002Asn	PROT:Q9UM47	NOTCH3	D	2002	N	D2002N	Likely benign	0	1	13	30
MUT:NOTCH3:Cys1004Tyr	PROT:Q9UM47	NOTCH3	C	1004	Y	C1004Y	Pathogenic	1	1	13	668
MUT:NOTCH3:Cys1015Arg	PROT:Q9UM47	NOTCH3	C	1015	R	C1015R	Pathogenic/Likely pathogenic	1	1	13	657
MUT:NOTCH3:Cys1015Phe	PROT:Q9UM47	NOTCH3	C	1015	F	C1015F	Pathogenic	1	1	13	657
MUT:NOTCH3:Cys1033Arg	PROT:Q9UM47	NOTCH3	C	1033	R	C1033R	Likely pathogenic	1	1	13	639
MUT:NOTCH3:Cys1061Tyr	PROT:Q9UM47	NOTCH3	C	1061	Y	C1061Y	Pathogenic/Likely pathogenic	1	1	13	611
MUT:NOTCH3:Cys1081Arg	PROT:Q9UM47	NOTCH3	C	1081	R	C1081R	Pathogenic	1	1	13	591
MUT:NOTCH3:Cys108Tyr	PROT:Q9UM47	NOTCH3	C	108	Y	C108Y	Pathogenic	1	1	13	10
MUT:NOTCH3:Cys1099Tyr	PROT:Q9UM47	NOTCH3	C	1099	Y	C1099Y	Pathogenic/Likely pathogenic	1	1	13	573
MUT:NOTCH3:Cys117Arg	PROT:Q9UM47	NOTCH3	C	117	R	C117R	Pathogenic	1	1	13	1
MUT:NOTCH3:Cys117Phe	PROT:Q9UM47	NOTCH3	C	117	F	C117F	Pathogenic	1	1	13	1
MUT:NOTCH3:Cys117Trp	PROT:Q9UM47	NOTCH3	C	117	W	C117W	Likely pathogenic	1	1	13	1
MUT:NOTCH3:Cys117Tyr	PROT:Q9UM47	NOTCH3	C	117	Y	C117Y	Pathogenic	1	1	13	1
MUT:NOTCH3:Cys123Phe	PROT:Q9UM47	NOTCH3	C	123	F	C123F	Pathogenic/Likely pathogenic	1	1	13	2
MUT:NOTCH3:Cys1250Ser	PROT:Q9UM47	NOTCH3	C	1250	S	C1250S	Likely benign	0	1	13	422
MUT:NOTCH3:Cys128Arg	PROT:Q9UM47	NOTCH3	C	128	R	C128R	Likely pathogenic	1	1	13	2
MUT:NOTCH3:Cys128Gly	PROT:Q9UM47	NOTCH3	C	128	G	C128G	Pathogenic	1	2	13	2
MUT:NOTCH3:Cys1315Trp	PROT:Q9UM47	NOTCH3	C	1315	W	C1315W	Likely pathogenic	1	1	13	357
MUT:NOTCH3:Cys134Tyr	PROT:Q9UM47	NOTCH3	C	134	Y	C134Y	Pathogenic	1	1	13	1
MUT:NOTCH3:Cys144Phe	PROT:Q9UM47	NOTCH3	C	144	F	C144F	Pathogenic/Likely pathogenic	1	1	13	9
MUT:NOTCH3:Cys146Arg	PROT:Q9UM47	NOTCH3	C	146	R	C146R	Pathogenic/Likely pathogenic	1	1	13	11
MUT:NOTCH3:Cys146Gly	PROT:Q9UM47	NOTCH3	C	146	G	C146G	Likely pathogenic	1	1	13	11
MUT:NOTCH3:Cys146Trp	PROT:Q9UM47	NOTCH3	C	146	W	C146W	Likely pathogenic	1	1	13	11
MUT:NOTCH3:Cys146Tyr	PROT:Q9UM47	NOTCH3	C	146	Y	C146Y	Pathogenic	1	1	13	11
MUT:NOTCH3:Cys155Gly	PROT:Q9UM47	NOTCH3	C	155	G	C155G	Likely pathogenic	1	1	13	20
MUT:NOTCH3:Cys162Ser	PROT:Q9UM47	NOTCH3	C	162	S	C162S	Likely pathogenic	1	1	13	27
MUT:NOTCH3:Cys174Arg	PROT:Q9UM47	NOTCH3	C	174	R	C174R	Pathogenic/Likely pathogenic	1	1	13	37
MUT:NOTCH3:Cys174Ser	PROT:Q9UM47	NOTCH3	C	174	S	C174S	Pathogenic	1	1	13	37
MUT:NOTCH3:Cys174Tyr	PROT:Q9UM47	NOTCH3	C	174	Y	C174Y	Pathogenic	1	2	13	37
MUT:NOTCH3:Cys183Arg	PROT:Q9UM47	NOTCH3	C	183	R	C183R	Likely pathogenic	1	1	13	28
MUT:NOTCH3:Cys183Phe	PROT:Q9UM47	NOTCH3	C	183	F	C183F	Pathogenic/Likely pathogenic	1	1	13	28
MUT:NOTCH3:Cys183Ser	PROT:Q9UM47	NOTCH3	C	183	S	C183S	Pathogenic	1	1	13	28
MUT:NOTCH3:Cys185Trp	PROT:Q9UM47	NOTCH3	C	185	W	C185W	Likely pathogenic	1	1	13	26
MUT:NOTCH3:Cys194Phe	PROT:Q9UM47	NOTCH3	C	194	F	C194F	Pathogenic	1	1	13	17
MUT:NOTCH3:Cys194Ser	PROT:Q9UM47	NOTCH3	C	194	S	C194S	Pathogenic	1	2	13	17
MUT:NOTCH3:Cys194Tyr	PROT:Q9UM47	NOTCH3	C	194	Y	C194Y	Pathogenic	1	1	13	17
MUT:NOTCH3:Cys201Arg	PROT:Q9UM47	NOTCH3	C	201	R	C201R	Likely pathogenic	1	1	13	10
MUT:NOTCH3:Cys201Gly	PROT:Q9UM47	NOTCH3	C	201	G	C201G	Likely pathogenic	1	1	13	10
MUT:NOTCH3:Cys222Tyr	PROT:Q9UM47	NOTCH3	C	222	Y	C222Y	Pathogenic/Likely pathogenic	1	1	13	11
MUT:NOTCH3:Cys224Ser	PROT:Q9UM47	NOTCH3	C	224	S	C224S	Likely pathogenic	1	1	13	13
MUT:NOTCH3:Cys224Tyr	PROT:Q9UM47	NOTCH3	C	224	Y	C224Y	Pathogenic	1	1	13	13
MUT:NOTCH3:Cys233Arg	PROT:Q9UM47	NOTCH3	C	233	R	C233R	Pathogenic	1	1	13	22
MUT:NOTCH3:Cys233Trp	PROT:Q9UM47	NOTCH3	C	233	W	C233W	Pathogenic	1	1	13	22
MUT:NOTCH3:Cys233Tyr	PROT:Q9UM47	NOTCH3	C	233	Y	C233Y	Pathogenic/Likely pathogenic	1	2	13	22
MUT:NOTCH3:Cys245Ser	PROT:Q9UM47	NOTCH3	C	245	S	C245S	Pathogenic/Likely pathogenic	1	1	13	34
MUT:NOTCH3:Cys251Arg	PROT:Q9UM47	NOTCH3	C	251	R	C251R	Pathogenic	1	1	13	40
MUT:NOTCH3:Cys251Phe	PROT:Q9UM47	NOTCH3	C	251	F	C251F	Likely pathogenic	1	1	13	40
MUT:NOTCH3:Cys260Phe	PROT:Q9UM47	NOTCH3	C	260	F	C260F	Pathogenic/Likely pathogenic	1	1	13	49
MUT:NOTCH3:Cys271Phe	PROT:Q9UM47	NOTCH3	C	271	F	C271F	Pathogenic	1	1	13	60
MUT:NOTCH3:Cys291Tyr	PROT:Q9UM47	NOTCH3	C	291	Y	C291Y	Pathogenic	1	1	13	80
MUT:NOTCH3:Cys311Phe	PROT:Q9UM47	NOTCH3	C	311	F	C311F	Likely pathogenic	1	1	13	100
MUT:NOTCH3:Cys318Phe	PROT:Q9UM47	NOTCH3	C	318	F	C318F	Pathogenic/Likely pathogenic	1	1	13	107
MUT:NOTCH3:Cys323Ser	PROT:Q9UM47	NOTCH3	C	323	S	C323S	Pathogenic	1	1	13	112
MUT:NOTCH3:Cys329Tyr	PROT:Q9UM47	NOTCH3	C	329	Y	C329Y	Pathogenic	1	1	13	118
MUT:NOTCH3:Cys338Ser	PROT:Q9UM47	NOTCH3	C	338	S	C338S	Pathogenic	1	1	13	127
MUT:NOTCH3:Cys340Tyr	PROT:Q9UM47	NOTCH3	C	340	Y	C340Y	Pathogenic	1	1	13	129
MUT:NOTCH3:Cys379Tyr	PROT:Q9UM47	NOTCH3	C	379	Y	C379Y	Pathogenic	1	1	13	168
MUT:NOTCH3:Cys388Tyr	PROT:Q9UM47	NOTCH3	C	388	Y	C388Y	Pathogenic	1	1	13	177
MUT:NOTCH3:Cys419Gly	PROT:Q9UM47	NOTCH3	C	419	G	C419G	Pathogenic/Likely pathogenic	1	1	13	208
MUT:NOTCH3:Cys428Ser	PROT:Q9UM47	NOTCH3	C	428	S	C428S	Pathogenic	1	1	13	217
MUT:NOTCH3:Cys428Tyr	PROT:Q9UM47	NOTCH3	C	428	Y	C428Y	Pathogenic/Likely pathogenic	1	1	13	217
MUT:NOTCH3:Cys43Gly	PROT:Q9UM47	NOTCH3	C	43	G	C43G	Likely pathogenic	1	1	13	41
MUT:NOTCH3:Cys43Tyr	PROT:Q9UM47	NOTCH3	C	43	Y	C43Y	Pathogenic/Likely pathogenic	1	1	13	41
MUT:NOTCH3:Cys455Arg	PROT:Q9UM47	NOTCH3	C	455	R	C455R	Pathogenic/Likely pathogenic	1	1	13	244
MUT:NOTCH3:Cys455Phe	PROT:Q9UM47	NOTCH3	C	455	F	C455F	Pathogenic	1	1	13	244
MUT:NOTCH3:Cys466Trp	PROT:Q9UM47	NOTCH3	C	466	W	C466W	Likely pathogenic	1	1	13	255
MUT:NOTCH3:Cys493Ser	PROT:Q9UM47	NOTCH3	C	493	S	C493S	Likely pathogenic	1	1	13	282
MUT:NOTCH3:Cys49Arg	PROT:Q9UM47	NOTCH3	C	49	R	C49R	Pathogenic	1	1	13	35
MUT:NOTCH3:Cys49Gly	PROT:Q9UM47	NOTCH3	C	49	G	C49G	Pathogenic/Likely pathogenic	1	1	13	35
MUT:NOTCH3:Cys49Phe	PROT:Q9UM47	NOTCH3	C	49	F	C49F	Pathogenic	1	1	13	35
MUT:NOTCH3:Cys49Tyr	PROT:Q9UM47	NOTCH3	C	49	Y	C49Y	Pathogenic	1	1	13	35
MUT:NOTCH3:Cys504Tyr	PROT:Q9UM47	NOTCH3	C	504	Y	C504Y	Likely pathogenic	1	1	13	293
MUT:NOTCH3:Cys511Arg	PROT:Q9UM47	NOTCH3	C	511	R	C511R	Pathogenic/Likely pathogenic	1	1	13	300
MUT:NOTCH3:Cys511Gly	PROT:Q9UM47	NOTCH3	C	511	G	C511G	Pathogenic	1	1	13	300
MUT:NOTCH3:Cys516Phe	PROT:Q9UM47	NOTCH3	C	516	F	C516F	Pathogenic/Likely pathogenic	1	1	13	305
MUT:NOTCH3:Cys516Tyr	PROT:Q9UM47	NOTCH3	C	516	Y	C516Y	Pathogenic/Likely pathogenic	1	1	13	305
MUT:NOTCH3:Cys542Arg	PROT:Q9UM47	NOTCH3	C	542	R	C542R	Pathogenic/Likely pathogenic	1	1	13	331
MUT:NOTCH3:Cys559Tyr	PROT:Q9UM47	NOTCH3	C	559	Y	C559Y	Likely pathogenic	1	1	13	348
MUT:NOTCH3:Cys55Gly	PROT:Q9UM47	NOTCH3	C	55	G	C55G	Likely pathogenic	1	1	13	29
MUT:NOTCH3:Cys55Tyr	PROT:Q9UM47	NOTCH3	C	55	Y	C55Y	Pathogenic/Likely pathogenic	1	1	13	29
MUT:NOTCH3:Cys568Arg	PROT:Q9UM47	NOTCH3	C	568	R	C568R	Likely pathogenic	1	1	13	357
MUT:NOTCH3:Cys597Trp	PROT:Q9UM47	NOTCH3	C	597	W	C597W	Pathogenic/Likely pathogenic	1	1	13	386
MUT:NOTCH3:Cys65Phe	PROT:Q9UM47	NOTCH3	C	65	F	C65F	Pathogenic	1	2	13	19
MUT:NOTCH3:Cys65Ser	PROT:Q9UM47	NOTCH3	C	65	S	C65S	Pathogenic/Likely pathogenic	1	2	13	19
MUT:NOTCH3:Cys65Tyr	PROT:Q9UM47	NOTCH3	C	65	Y	C65Y	Pathogenic/Likely pathogenic	1	2	13	19
MUT:NOTCH3:Cys67Phe	PROT:Q9UM47	NOTCH3	C	67	F	C67F	Pathogenic/Likely pathogenic	1	1	13	17
MUT:NOTCH3:Cys709Tyr	PROT:Q9UM47	NOTCH3	C	709	Y	C709Y	Likely pathogenic	1	1	13	498
MUT:NOTCH3:Cys76Tyr	PROT:Q9UM47	NOTCH3	C	76	Y	C76Y	Pathogenic	1	1	13	8
MUT:NOTCH3:Cys82Arg	PROT:Q9UM47	NOTCH3	C	82	R	C82R	Pathogenic	1	1	13	2
MUT:NOTCH3:Cys82Phe	PROT:Q9UM47	NOTCH3	C	82	F	C82F	Pathogenic/Likely pathogenic	1	2	13	2
MUT:NOTCH3:Cys82Tyr	PROT:Q9UM47	NOTCH3	C	82	Y	C82Y	Likely pathogenic	1	1	13	2
MUT:NOTCH3:Cys901Arg	PROT:Q9UM47	NOTCH3	C	901	R	C901R	Likely pathogenic	1	1	13	690
MUT:NOTCH3:Cys939Arg	PROT:Q9UM47	NOTCH3	C	939	R	C939R	Likely pathogenic	1	1	13	728
MUT:NOTCH3:Cys988Tyr	PROT:Q9UM47	NOTCH3	C	988	Y	C988Y	Pathogenic	1	1	13	684
MUT:NOTCH3:Glu1384Asp	PROT:Q9UM47	NOTCH3	E	1384	D	E1384D	Likely benign	0	1	13	288
MUT:NOTCH3:Gly1105Ala	PROT:Q9UM47	NOTCH3	G	1105	A	G1105A	Benign/Likely benign	0	1	13	567
MUT:NOTCH3:Gly1105Cys	PROT:Q9UM47	NOTCH3	G	1105	C	G1105C	Likely pathogenic	1	1	13	567
MUT:NOTCH3:Gly1710Asp	PROT:Q9UM47	NOTCH3	G	1710	D	G1710D	Benign/Likely benign	0	1	13	2
MUT:NOTCH3:Gly210Asp	PROT:Q9UM47	NOTCH3	G	210	D	G210D	Likely pathogenic	1	1	13	1
MUT:NOTCH3:Gly382Cys	PROT:Q9UM47	NOTCH3	G	382	C	G382C	Pathogenic/Likely pathogenic	1	1	13	171
MUT:NOTCH3:Gly420Cys	PROT:Q9UM47	NOTCH3	G	420	C	G420C	Pathogenic/Likely pathogenic	1	1	13	209
MUT:NOTCH3:Gly498Cys	PROT:Q9UM47	NOTCH3	G	498	C	G498C	Pathogenic	1	1	13	287
MUT:NOTCH3:Gly557Cys	PROT:Q9UM47	NOTCH3	G	557	C	G557C	Pathogenic	1	1	13	346
MUT:NOTCH3:Gly804Cys	PROT:Q9UM47	NOTCH3	G	804	C	G804C	Pathogenic	1	1	13	593
MUT:NOTCH3:Gly89Cys	PROT:Q9UM47	NOTCH3	G	89	C	G89C	Likely pathogenic	1	1	13	5
MUT:NOTCH3:His1133Gln	PROT:Q9UM47	NOTCH3	H	1133	Q	H1133Q	Benign/Likely benign	0	2	13	539
MUT:NOTCH3:His170Arg	PROT:Q9UM47	NOTCH3	H	170	R	H170R	Benign/Likely benign	0	2	13	35
MUT:NOTCH3:His920Arg	PROT:Q9UM47	NOTCH3	H	920	R	H920R	Likely benign	0	1	13	709
MUT:NOTCH3:Leu1518Met	PROT:Q9UM47	NOTCH3	L	1518	M	L1518M	Benign/Likely benign	0	1	13	154
MUT:NOTCH3:Leu1519Pro	PROT:Q9UM47	NOTCH3	L	1519	P	L1519P	Pathogenic	1	2	13	153
MUT:NOTCH3:Pro167Ser	PROT:Q9UM47	NOTCH3	P	167	S	P167S	Benign	0	2	13	32
MUT:NOTCH3:Pro2074Leu	PROT:Q9UM47	NOTCH3	P	2074	L	P2074L	Benign	0	2	13	5
MUT:NOTCH3:Pro496Leu	PROT:Q9UM47	NOTCH3	P	496	L	P496L	Benign/Likely benign	0	1	13	285
MUT:NOTCH3:Ser396Cys	PROT:Q9UM47	NOTCH3	S	396	C	S396C	Pathogenic	1	1	13	185
MUT:NOTCH3:Ser497Leu	PROT:Q9UM47	NOTCH3	S	497	L	S497L	Benign/Likely benign	0	7	13	286
MUT:NOTCH3:Thr2270Met	PROT:Q9UM47	NOTCH3	T	2270	M	T2270M	Benign/Likely benign	0	3	13	201
MUT:NOTCH3:Trp1003Cys	PROT:Q9UM47	NOTCH3	W	1003	C	W1003C	Pathogenic/Likely pathogenic	1	1	13	669
MUT:NOTCH3:Trp71Cys	PROT:Q9UM47	NOTCH3	W	71	C	W71C	Pathogenic	1	1	13	13
MUT:NOTCH3:Tyr1021Cys	PROT:Q9UM47	NOTCH3	Y	1021	C	Y1021C	Pathogenic/Likely pathogenic	1	1	13	651
MUT:NOTCH3:Tyr189Asp	PROT:Q9UM47	NOTCH3	Y	189	D	Y189D	Likely pathogenic	1	1	13	22
MUT:NOTCH3:Tyr258Cys	PROT:Q9UM47	NOTCH3	Y	258	C	Y258C	Pathogenic/Likely pathogenic	1	1	13	47
MUT:NOTCH3:Tyr710Cys	PROT:Q9UM47	NOTCH3	Y	710	C	Y710C	Likely pathogenic	1	3	13	499
MUT:NOTCH3:Val1183Met	PROT:Q9UM47	NOTCH3	V	1183	M	V1183M	Benign	0	1	13	489
MUT:NOTCH3:Val1762Met	PROT:Q9UM47	NOTCH3	V	1762	M	V1762M	Benign/Likely benign	0	1	13	50
MUT:NOTCH3:Val1952Met	PROT:Q9UM47	NOTCH3	V	1952	M	V1952M	Benign/Likely benign	0	1	13	80
MUT:NOTCH3:Val2011Ile	PROT:Q9UM47	NOTCH3	V	2011	I	V2011I	Benign/Likely benign	0	1	13	21
MUT:NOTCH3:Val237Leu	PROT:Q9UM47	NOTCH3	V	237	L	V237L	Likely pathogenic	1	1	13	26
MUT:NOTCH3:Val322Met	PROT:Q9UM47	NOTCH3	V	322	M	V322M	Likely benign	0	2	13	111
MUT:NOTUM:Gly4Glu	PROT:Q6P988	NOTUM	G	4	E	G4E	Likely benign	0	1	1	77
MUT:NPAP1:Asp1016Tyr	PROT:Q9NZP6	NPAP1	D	1016	Y	D1016Y	Benign/Likely benign	0	1	2	920
MUT:NPAP1:Met221Ile	PROT:Q9NZP6	NPAP1	M	221	I	M221I	Benign/Likely benign	0	1	2	125
MUT:NPC1:Ala1035Val	PROT:O15118	NPC1	A	1035	V	A1035V	Pathogenic/Likely pathogenic	1	1	19	22
MUT:NPC1:Ala1054Thr	PROT:O15118	NPC1	A	1054	T	A1054T	Pathogenic/Likely pathogenic	1	2	19	3
MUT:NPC1:Ala1062Val	PROT:O15118	NPC1	A	1062	V	A1062V	Likely pathogenic	1	1	19	5
MUT:NPC1:Ala1151Ser	PROT:O15118	NPC1	A	1151	S	A1151S	Likely pathogenic	1	1	19	29
MUT:NPC1:Ala1151Thr	PROT:O15118	NPC1	A	1151	T	A1151T	Pathogenic/Likely pathogenic	1	2	19	29
MUT:NPC1:Ala1174Val	PROT:O15118	NPC1	A	1174	V	A1174V	Likely pathogenic	1	1	19	6
MUT:NPC1:Ala1216Val	PROT:O15118	NPC1	A	1216	V	A1216V	Likely pathogenic	1	1	19	1
MUT:NPC1:Ala558Thr	PROT:O15118	NPC1	A	558	T	A558T	Pathogenic/Likely pathogenic	1	2	19	27
MUT:NPC1:Ala764Glu	PROT:O15118	NPC1	A	764	E	A764E	Pathogenic	1	1	19	58
MUT:NPC1:Ala764Ser	PROT:O15118	NPC1	A	764	S	A764S	Likely pathogenic	1	1	19	58
MUT:NPC1:Ala764Val	PROT:O15118	NPC1	A	764	V	A764V	Pathogenic	1	1	19	58
MUT:NPC1:Ala840Glu	PROT:O15118	NPC1	A	840	E	A840E	Likely pathogenic	1	1	19	14
MUT:NPC1:Ala926Thr	PROT:O15118	NPC1	A	926	T	A926T	Pathogenic/Likely pathogenic	1	2	19	23
MUT:NPC1:Ala926Val	PROT:O15118	NPC1	A	926	V	A926V	Pathogenic/Likely pathogenic	1	1	19	23
MUT:NPC1:Ala927Gly	PROT:O15118	NPC1	A	927	G	A927G	Pathogenic	1	1	19	24
MUT:NPC1:Ala927Val	PROT:O15118	NPC1	A	927	V	A927V	Pathogenic/Likely pathogenic	1	2	19	24
MUT:NPC1:Arg1186His	PROT:O15118	NPC1	R	1186	H	R1186H	Pathogenic/Likely pathogenic	1	2	19	6
MUT:NPC1:Arg1186Leu	PROT:O15118	NPC1	R	1186	L	R1186L	Likely pathogenic	1	1	19	6
MUT:NPC1:Arg1266Gln	PROT:O15118	NPC1	R	1266	Q	R1266Q	Benign	0	1	19	4
MUT:NPC1:Arg372Trp	PROT:O15118	NPC1	R	372	W	R372W	Pathogenic/Likely pathogenic	1	2	19	10
MUT:NPC1:Arg389His	PROT:O15118	NPC1	R	389	H	R389H	Likely pathogenic	1	1	19	3
MUT:NPC1:Arg389Leu	PROT:O15118	NPC1	R	389	L	R389L	Likely pathogenic	1	1	19	3
MUT:NPC1:Arg404Gln	PROT:O15118	NPC1	R	404	Q	R404Q	Pathogenic	1	2	19	10
MUT:NPC1:Arg404Trp	PROT:O15118	NPC1	R	404	W	R404W	Pathogenic/Likely pathogenic	1	2	19	10
MUT:NPC1:Arg411Gln	PROT:O15118	NPC1	R	411	Q	R411Q	Benign/Likely benign	0	2	19	17
MUT:NPC1:Arg518Gln	PROT:O15118	NPC1	R	518	Q	R518Q	Pathogenic	1	2	19	67
MUT:NPC1:Arg518Trp	PROT:O15118	NPC1	R	518	W	R518W	Pathogenic/Likely pathogenic	1	2	19	67
MUT:NPC1:Arg615Cys	PROT:O15118	NPC1	R	615	C	R615C	Pathogenic/Likely pathogenic	1	2	19	30
MUT:NPC1:Arg615Gly	PROT:O15118	NPC1	R	615	G	R615G	Likely pathogenic	1	1	19	30
MUT:NPC1:Arg615His	PROT:O15118	NPC1	R	615	H	R615H	Likely pathogenic	1	1	19	30
MUT:NPC1:Arg615Leu	PROT:O15118	NPC1	R	615	L	R615L	Likely pathogenic	1	1	19	30
MUT:NPC1:Arg615Ser	PROT:O15118	NPC1	R	615	S	R615S	Likely pathogenic	1	1	19	30
MUT:NPC1:Arg726Thr	PROT:O15118	NPC1	R	726	T	R726T	Pathogenic	1	1	19	96
MUT:NPC1:Arg789Cys	PROT:O15118	NPC1	R	789	C	R789C	Pathogenic/Likely pathogenic	1	2	19	33
MUT:NPC1:Arg789Gly	PROT:O15118	NPC1	R	789	G	R789G	Likely pathogenic	1	1	19	33
MUT:NPC1:Arg934Gln	PROT:O15118	NPC1	R	934	Q	R934Q	Pathogenic/Likely pathogenic	1	1	19	31
MUT:NPC1:Arg958Gln	PROT:O15118	NPC1	R	958	Q	R958Q	Pathogenic/Likely pathogenic	1	2	19	29
MUT:NPC1:Arg958Gly	PROT:O15118	NPC1	R	958	G	R958G	Likely pathogenic	1	1	19	29
MUT:NPC1:Arg978Cys	PROT:O15118	NPC1	R	978	C	R978C	Pathogenic/Likely pathogenic	1	2	19	9
MUT:NPC1:Arg978Ser	PROT:O15118	NPC1	R	978	S	R978S	Likely pathogenic	1	1	19	9
MUT:NPC1:Asn1150Lys	PROT:O15118	NPC1	N	1150	K	N1150K	Likely pathogenic	1	1	19	30
MUT:NPC1:Asn1156Ile	PROT:O15118	NPC1	N	1156	I	N1156I	Pathogenic/Likely pathogenic	1	1	19	24
MUT:NPC1:Asn1156Ser	PROT:O15118	NPC1	N	1156	S	N1156S	Pathogenic	1	2	19	24
MUT:NPC1:Asn169Ile	PROT:O15118	NPC1	N	169	I	N169I	Pathogenic/Likely pathogenic	1	1	19	2
MUT:NPC1:Asn478Thr	PROT:O15118	NPC1	N	478	T	N478T	Likely pathogenic	1	1	19	84
MUT:NPC1:Asn968Ser	PROT:O15118	NPC1	N	968	S	N968S	Pathogenic/Likely pathogenic	1	2	19	19
MUT:NPC1:Asp501Tyr	PROT:O15118	NPC1	D	501	Y	D501Y	Pathogenic	1	2	19	84
MUT:NPC1:Asp501Val	PROT:O15118	NPC1	D	501	V	D501V	Pathogenic	1	1	19	84
MUT:NPC1:Asp502Glu	PROT:O15118	NPC1	D	502	E	D502E	Likely benign	0	1	19	83
MUT:NPC1:Asp611Gly	PROT:O15118	NPC1	D	611	G	D611G	Pathogenic	1	1	19	26
MUT:NPC1:Asp712Asn	PROT:O15118	NPC1	D	712	N	D712N	Pathogenic/Likely pathogenic	1	1	19	110
MUT:NPC1:Asp712Tyr	PROT:O15118	NPC1	D	712	Y	D712Y	Likely pathogenic	1	1	19	110
MUT:NPC1:Asp874Tyr	PROT:O15118	NPC1	D	874	Y	D874Y	Likely pathogenic	1	1	19	3
MUT:NPC1:Asp874Val	PROT:O15118	NPC1	D	874	V	D874V	Pathogenic/Likely pathogenic	1	3	19	3
MUT:NPC1:Asp944Asn	PROT:O15118	NPC1	D	944	N	D944N	Pathogenic	1	1	19	41
MUT:NPC1:Asp945Asn	PROT:O15118	NPC1	D	945	N	D945N	Pathogenic/Likely pathogenic	1	2	19	42
MUT:NPC1:Asp948Asn	PROT:O15118	NPC1	D	948	N	D948N	Pathogenic/Likely pathogenic	1	2	19	39
MUT:NPC1:Asp948Glu	PROT:O15118	NPC1	D	948	E	D948E	Likely pathogenic	1	1	19	39
MUT:NPC1:Cys113Arg	PROT:O15118	NPC1	C	113	R	C113R	Pathogenic/Likely pathogenic	1	2	19	18
MUT:NPC1:Cys113Tyr	PROT:O15118	NPC1	C	113	Y	C113Y	Likely pathogenic	1	1	19	18
MUT:NPC1:Cys1168Gly	PROT:O15118	NPC1	C	1168	G	C1168G	Likely pathogenic	1	1	19	12
MUT:NPC1:Cys1168Tyr	PROT:O15118	NPC1	C	1168	Y	C1168Y	Pathogenic/Likely pathogenic	1	1	19	12
MUT:NPC1:Cys177Arg	PROT:O15118	NPC1	C	177	R	C177R	Likely pathogenic	1	1	19	6
MUT:NPC1:Cys177Tyr	PROT:O15118	NPC1	C	177	Y	C177Y	Pathogenic/Likely pathogenic	1	1	19	6
MUT:NPC1:Cys468Arg	PROT:O15118	NPC1	C	468	R	C468R	Likely pathogenic	1	1	19	74
MUT:NPC1:Cys479Ser	PROT:O15118	NPC1	C	479	S	C479S	Likely pathogenic	1	1	19	85
MUT:NPC1:Cys63Arg	PROT:O15118	NPC1	C	63	R	C63R	Likely pathogenic	1	2	19	21
MUT:NPC1:Cys63Ser	PROT:O15118	NPC1	C	63	S	C63S	Likely pathogenic	1	1	19	21
MUT:NPC1:Cys63Tyr	PROT:O15118	NPC1	C	63	Y	C63Y	Likely pathogenic	1	1	19	21
MUT:NPC1:Cys914Ser	PROT:O15118	NPC1	C	914	S	C914S	Pathogenic	1	1	19	11
MUT:NPC1:Cys957Ser	PROT:O15118	NPC1	C	957	S	C957S	Likely pathogenic	1	1	19	30
MUT:NPC1:Cys976Arg	PROT:O15118	NPC1	C	976	R	C976R	Likely pathogenic	1	1	19	11
MUT:NPC1:Gln117Arg	PROT:O15118	NPC1	Q	117	R	Q117R	Likely pathogenic	1	1	19	22
MUT:NPC1:Gln775Pro	PROT:O15118	NPC1	Q	775	P	Q775P	Pathogenic	1	3	19	47
MUT:NPC1:Gln928Pro	PROT:O15118	NPC1	Q	928	P	Q928P	Pathogenic	1	1	19	25
MUT:NPC1:Gln92Arg	PROT:O15118	NPC1	Q	92	R	Q92R	Pathogenic	1	1	19	3
MUT:NPC1:Glu1089Gln	PROT:O15118	NPC1	E	1089	Q	E1089Q	Likely pathogenic	1	1	19	32
MUT:NPC1:Glu1089Gly	PROT:O15118	NPC1	E	1089	G	E1089G	Likely pathogenic	1	1	19	32
MUT:NPC1:Glu1089Lys	PROT:O15118	NPC1	E	1089	K	E1089K	Pathogenic	1	1	19	32
MUT:NPC1:Glu1189Gly	PROT:O15118	NPC1	E	1189	G	E1189G	Pathogenic/Likely pathogenic	1	2	19	9
MUT:NPC1:Glu612Asp	PROT:O15118	NPC1	E	612	D	E612D	Pathogenic/Likely pathogenic	1	1	19	27
MUT:NPC1:Glu805Lys	PROT:O15118	NPC1	E	805	K	E805K	Likely benign	0	1	19	17
MUT:NPC1:Gly1012Asp	PROT:O15118	NPC1	G	1012	D	G1012D	Likely pathogenic	1	1	19	1
MUT:NPC1:Gly1015Val	PROT:O15118	NPC1	G	1015	V	G1015V	Pathogenic/Likely pathogenic	1	1	19	2
MUT:NPC1:Gly1034Arg	PROT:O15118	NPC1	G	1034	R	G1034R	Pathogenic/Likely pathogenic	1	3	19	21
MUT:NPC1:Gly1140Val	PROT:O15118	NPC1	G	1140	V	G1140V	Likely pathogenic	1	1	19	40
MUT:NPC1:Gly1162Ala	PROT:O15118	NPC1	G	1162	A	G1162A	Likely pathogenic	1	1	19	18
MUT:NPC1:Gly1240Arg	PROT:O15118	NPC1	G	1240	R	G1240R	Likely pathogenic	1	2	19	23
MUT:NPC1:Gly1252Arg	PROT:O15118	NPC1	G	1252	R	G1252R	Likely pathogenic	1	1	19	18
MUT:NPC1:Gly149Arg	PROT:O15118	NPC1	G	149	R	G149R	Benign/Likely benign	0	2	19	22
MUT:NPC1:Gly178Arg	PROT:O15118	NPC1	G	178	R	G178R	Likely pathogenic	1	1	19	7
MUT:NPC1:Gly248Val	PROT:O15118	NPC1	G	248	V	G248V	Likely pathogenic	1	2	19	77
MUT:NPC1:Gly343Ala	PROT:O15118	NPC1	G	343	A	G343A	Likely pathogenic	1	1	19	39
MUT:NPC1:Gly343Glu	PROT:O15118	NPC1	G	343	E	G343E	Pathogenic	1	1	19	39
MUT:NPC1:Gly538Arg	PROT:O15118	NPC1	G	538	R	G538R	Likely pathogenic	1	1	19	47
MUT:NPC1:Gly539Arg	PROT:O15118	NPC1	G	539	R	G539R	Likely pathogenic	1	1	19	46
MUT:NPC1:Gly548Glu	PROT:O15118	NPC1	G	548	E	G548E	Pathogenic	1	1	19	37
MUT:NPC1:Gly640Arg	PROT:O15118	NPC1	G	640	R	G640R	Pathogenic/Likely pathogenic	1	1	19	55
MUT:NPC1:Gly69Asp	PROT:O15118	NPC1	G	69	D	G69D	Likely benign	0	1	19	15
MUT:NPC1:Gly910Ser	PROT:O15118	NPC1	G	910	S	G910S	Pathogenic/Likely pathogenic	1	1	19	7
MUT:NPC1:Gly911Ser	PROT:O15118	NPC1	G	911	S	G911S	Benign/Likely benign	0	1	19	8
MUT:NPC1:Gly992Ala	PROT:O15118	NPC1	G	992	A	G992A	Pathogenic/Likely pathogenic	1	2	19	5
MUT:NPC1:Gly992Arg	PROT:O15118	NPC1	G	992	R	G992R	Pathogenic/Likely pathogenic	1	2	19	5
MUT:NPC1:His215Arg	PROT:O15118	NPC1	H	215	R	H215R	Benign	0	1	19	44
MUT:NPC1:His512Tyr	PROT:O15118	NPC1	H	512	Y	H512Y	Likely pathogenic	1	2	19	73
MUT:NPC1:His530Tyr	PROT:O15118	NPC1	H	530	Y	H530Y	Likely pathogenic	1	1	19	55
MUT:NPC1:Ile1061Thr	PROT:O15118	NPC1	I	1061	T	I1061T	Pathogenic	1	5	19	4
MUT:NPC1:Ile685Leu	PROT:O15118	NPC1	I	685	L	I685L	Likely pathogenic	1	1	19	100
MUT:NPC1:Ile685Thr	PROT:O15118	NPC1	I	685	T	I685T	Likely pathogenic	1	2	19	100
MUT:NPC1:Ile841Lys	PROT:O15118	NPC1	I	841	K	I841K	Likely pathogenic	1	1	19	15
MUT:NPC1:Ile858Val	PROT:O15118	NPC1	I	858	V	I858V	Benign	0	1	19	19
MUT:NPC1:Leu1191Val	PROT:O15118	NPC1	L	1191	V	L1191V	Likely pathogenic	1	1	19	11
MUT:NPC1:Leu1213Phe	PROT:O15118	NPC1	L	1213	F	L1213F	Likely pathogenic	1	3	19	4
MUT:NPC1:Leu1213Val	PROT:O15118	NPC1	L	1213	V	L1213V	Pathogenic/Likely pathogenic	1	2	19	4
MUT:NPC1:Leu1244Pro	PROT:O15118	NPC1	L	1244	P	L1244P	Likely pathogenic	1	2	19	26
MUT:NPC1:Leu472Pro	PROT:O15118	NPC1	L	472	P	L472P	Likely pathogenic	1	1	19	78
MUT:NPC1:Leu684Phe	PROT:O15118	NPC1	L	684	F	L684F	Likely pathogenic	1	1	19	99
MUT:NPC1:Leu724Pro	PROT:O15118	NPC1	L	724	P	L724P	Pathogenic/Likely pathogenic	1	2	19	98
MUT:NPC1:Met1001Val	PROT:O15118	NPC1	M	1001	V	M1001V	Pathogenic/Likely pathogenic	1	2	19	12
MUT:NPC1:Met1142Ile	PROT:O15118	NPC1	M	1142	I	M1142I	Pathogenic	1	1	19	38
MUT:NPC1:Met1142Thr	PROT:O15118	NPC1	M	1142	T	M1142T	Pathogenic/Likely pathogenic	1	1	19	38
MUT:NPC1:Met1179Val	PROT:O15118	NPC1	M	1179	V	M1179V	Benign	0	1	19	1
MUT:NPC1:Met1194Thr	PROT:O15118	NPC1	M	1194	T	M1194T	Likely pathogenic	1	1	19	14
MUT:NPC1:Met156Lys	PROT:O15118	NPC1	M	156	K	M156K	Likely pathogenic	1	1	19	15
MUT:NPC1:Met1Ile	PROT:O15118	NPC1	M	1	I	M1I	Pathogenic/Likely pathogenic	1	1	19	83
MUT:NPC1:Met1Val	PROT:O15118	NPC1	M	1	V	M1V	Likely pathogenic	1	1	19	83
MUT:NPC1:Met642Ile	PROT:O15118	NPC1	M	642	I	M642I	Benign	0	1	19	57
MUT:NPC1:Met866Thr	PROT:O15118	NPC1	M	866	T	M866T	Likely pathogenic	1	1	19	11
MUT:NPC1:Phe1087Leu	PROT:O15118	NPC1	F	1087	L	F1087L	Pathogenic/Likely pathogenic	1	2	19	30
MUT:NPC1:Phe1167Cys	PROT:O15118	NPC1	F	1167	C	F1167C	Pathogenic/Likely pathogenic	1	2	19	13
MUT:NPC1:Phe1224Leu	PROT:O15118	NPC1	F	1224	L	F1224L	Pathogenic	1	1	19	7
MUT:NPC1:Phe703Ile	PROT:O15118	NPC1	F	703	I	F703I	Likely pathogenic	1	1	19	118
MUT:NPC1:Phe703Ser	PROT:O15118	NPC1	F	703	S	F703S	Likely pathogenic	1	1	19	118
MUT:NPC1:Phe763Leu	PROT:O15118	NPC1	F	763	L	F763L	Likely pathogenic	1	1	19	59
MUT:NPC1:Phe842Ser	PROT:O15118	NPC1	F	842	S	F842S	Likely pathogenic	1	1	19	16
MUT:NPC1:Phe995Leu	PROT:O15118	NPC1	F	995	L	F995L	Likely pathogenic	1	1	19	8
MUT:NPC1:Pro1007Ala	PROT:O15118	NPC1	P	1007	A	P1007A	Pathogenic	1	3	19	6
MUT:NPC1:Pro1007Leu	PROT:O15118	NPC1	P	1007	L	P1007L	Pathogenic	1	1	19	6
MUT:NPC1:Pro166His	PROT:O15118	NPC1	P	166	H	P166H	Likely pathogenic	1	1	19	5
MUT:NPC1:Pro166Leu	PROT:O15118	NPC1	P	166	L	P166L	Likely pathogenic	1	1	19	5
MUT:NPC1:Pro249Ser	PROT:O15118	NPC1	P	249	S	P249S	Likely pathogenic	1	1	19	78
MUT:NPC1:Pro401Thr	PROT:O15118	NPC1	P	401	T	P401T	Pathogenic	1	1	19	7
MUT:NPC1:Pro434Leu	PROT:O15118	NPC1	P	434	L	P434L	Pathogenic/Likely pathogenic	1	1	19	40
MUT:NPC1:Pro434Ser	PROT:O15118	NPC1	P	434	S	P434S	Benign/Likely benign	0	1	19	40
MUT:NPC1:Pro471Leu	PROT:O15118	NPC1	P	471	L	P471L	Pathogenic/Likely pathogenic	1	1	19	77
MUT:NPC1:Pro474Ala	PROT:O15118	NPC1	P	474	A	P474A	Likely pathogenic	1	1	19	80
MUT:NPC1:Pro474Leu	PROT:O15118	NPC1	P	474	L	P474L	Pathogenic	1	1	19	80
MUT:NPC1:Pro540Arg	PROT:O15118	NPC1	P	540	R	P540R	Likely pathogenic	1	1	19	45
MUT:NPC1:Pro543Leu	PROT:O15118	NPC1	P	543	L	P543L	Pathogenic	1	2	19	42
MUT:NPC1:Pro543Ser	PROT:O15118	NPC1	P	543	S	P543S	Likely pathogenic	1	1	19	42
MUT:NPC1:Pro691Ala	PROT:O15118	NPC1	P	691	A	P691A	Pathogenic/Likely pathogenic	1	2	19	106
MUT:NPC1:Pro691Gln	PROT:O15118	NPC1	P	691	Q	P691Q	Likely pathogenic	1	3	19	106
MUT:NPC1:Pro691Leu	PROT:O15118	NPC1	P	691	L	P691L	Pathogenic/Likely pathogenic	1	1	19	106
MUT:NPC1:Pro691Ser	PROT:O15118	NPC1	P	691	S	P691S	Likely pathogenic	1	1	19	106
MUT:NPC1:Pro887Leu	PROT:O15118	NPC1	P	887	L	P887L	Pathogenic/Likely pathogenic	1	1	19	10
MUT:NPC1:Pro888Ser	PROT:O15118	NPC1	P	888	S	P888S	Pathogenic	1	1	19	11
MUT:NPC1:Pro90Arg	PROT:O15118	NPC1	P	90	R	P90R	Likely pathogenic	1	2	19	5
MUT:NPC1:Ser1082Arg	PROT:O15118	NPC1	S	1082	R	S1082R	Likely pathogenic	1	1	19	25
MUT:NPC1:Ser1105Tyr	PROT:O15118	NPC1	S	1105	Y	S1105Y	Likely pathogenic	1	1	19	48
MUT:NPC1:Ser1164Pro	PROT:O15118	NPC1	S	1164	P	S1164P	Likely pathogenic	1	1	19	16
MUT:NPC1:Ser1169Arg	PROT:O15118	NPC1	S	1169	R	S1169R	Likely pathogenic	1	1	19	11
MUT:NPC1:Ser1197Phe	PROT:O15118	NPC1	S	1197	F	S1197F	Likely pathogenic	1	1	19	17
MUT:NPC1:Ser1200Gly	PROT:O15118	NPC1	S	1200	G	S1200G	Benign/Likely benign	0	1	19	17
MUT:NPC1:Ser167Leu	PROT:O15118	NPC1	S	167	L	S167L	Likely pathogenic	1	1	19	4
MUT:NPC1:Ser652Trp	PROT:O15118	NPC1	S	652	W	S652W	Pathogenic/Likely pathogenic	1	2	19	67
MUT:NPC1:Ser667Leu	PROT:O15118	NPC1	S	667	L	S667L	Pathogenic	1	1	19	82
MUT:NPC1:Ser676Ile	PROT:O15118	NPC1	S	676	I	S676I	Likely pathogenic	1	1	19	91
MUT:NPC1:Ser734Cys	PROT:O15118	NPC1	S	734	C	S734C	Likely pathogenic	1	1	19	88
MUT:NPC1:Ser734Gly	PROT:O15118	NPC1	S	734	G	S734G	Likely pathogenic	1	1	19	88
MUT:NPC1:Ser734Ile	PROT:O15118	NPC1	S	734	I	S734I	Pathogenic/Likely pathogenic	1	2	19	88
MUT:NPC1:Ser865Leu	PROT:O15118	NPC1	S	865	L	S865L	Pathogenic	1	1	19	12
MUT:NPC1:Ser865Pro	PROT:O15118	NPC1	S	865	P	S865P	Likely pathogenic	1	1	19	12
MUT:NPC1:Ser865Thr	PROT:O15118	NPC1	S	865	T	S865T	Likely pathogenic	1	1	19	12
MUT:NPC1:Ser870Thr	PROT:O15118	NPC1	S	870	T	S870T	Pathogenic	1	1	19	7
MUT:NPC1:Ser940Leu	PROT:O15118	NPC1	S	940	L	S940L	Pathogenic/Likely pathogenic	1	2	19	37
MUT:NPC1:Ser940Pro	PROT:O15118	NPC1	S	940	P	S940P	Likely pathogenic	1	1	19	37
MUT:NPC1:Ser954Leu	PROT:O15118	NPC1	S	954	L	S954L	Pathogenic	1	3	19	33
MUT:NPC1:Thr1036Ala	PROT:O15118	NPC1	T	1036	A	T1036A	Pathogenic/Likely pathogenic	1	2	19	21
MUT:NPC1:Thr1036Lys	PROT:O15118	NPC1	T	1036	K	T1036K	Likely pathogenic	1	1	19	21
MUT:NPC1:Thr1036Ser	PROT:O15118	NPC1	T	1036	S	T1036S	Likely pathogenic	1	1	19	21
MUT:NPC1:Thr1043Ala	PROT:O15118	NPC1	T	1043	A	T1043A	Pathogenic	1	1	19	14
MUT:NPC1:Thr1205Arg	PROT:O15118	NPC1	T	1205	R	T1205R	Pathogenic/Likely pathogenic	1	2	19	12
MUT:NPC1:Thr1205Ile	PROT:O15118	NPC1	T	1205	I	T1205I	Likely pathogenic	1	1	19	12
MUT:NPC1:Thr1205Lys	PROT:O15118	NPC1	T	1205	K	T1205K	Pathogenic/Likely pathogenic	1	3	19	12
MUT:NPC1:Thr375Ala	PROT:O15118	NPC1	T	375	A	T375A	Pathogenic/Likely pathogenic	1	1	19	7
MUT:NPC1:Thr511Met	PROT:O15118	NPC1	T	511	M	T511M	Benign/Likely benign	0	1	19	74
MUT:NPC1:Trp1145Arg	PROT:O15118	NPC1	W	1145	R	W1145R	Likely pathogenic	1	2	19	35
MUT:NPC1:Trp1145Cys	PROT:O15118	NPC1	W	1145	C	W1145C	Likely pathogenic	1	1	19	35
MUT:NPC1:Trp583Gly	PROT:O15118	NPC1	W	583	G	W583G	Likely pathogenic	1	1	19	2
MUT:NPC1:Trp942Cys	PROT:O15118	NPC1	W	942	C	W942C	Likely pathogenic	1	1	19	39
MUT:NPC1:Tyr1019Cys	PROT:O15118	NPC1	Y	1019	C	Y1019C	Pathogenic/Likely pathogenic	1	1	19	6
MUT:NPC1:Tyr1088Cys	PROT:O15118	NPC1	Y	1088	C	Y1088C	Pathogenic/Likely pathogenic	1	2	19	31
MUT:NPC1:Tyr509Ser	PROT:O15118	NPC1	Y	509	S	Y509S	Pathogenic/Likely pathogenic	1	2	19	76
MUT:NPC1:Tyr634Cys	PROT:O15118	NPC1	Y	634	C	Y634C	Pathogenic/Likely pathogenic	1	2	19	49
MUT:NPC1:Tyr634Phe	PROT:O15118	NPC1	Y	634	F	Y634F	Pathogenic/Likely pathogenic	1	2	19	49
MUT:NPC1:Tyr825Cys	PROT:O15118	NPC1	Y	825	C	Y825C	Pathogenic/Likely pathogenic	1	1	19	1
MUT:NPC1:Tyr899His	PROT:O15118	NPC1	Y	899	H	Y899H	Likely pathogenic	1	1	19	4
MUT:NPC1:Val1023Gly	PROT:O15118	NPC1	V	1023	G	V1023G	Pathogenic	1	1	19	10
MUT:NPC1:Val1141Gly	PROT:O15118	NPC1	V	1141	G	V1141G	Pathogenic/Likely pathogenic	1	2	19	39
MUT:NPC1:Val1212Leu	PROT:O15118	NPC1	V	1212	L	V1212L	Pathogenic/Likely pathogenic	1	3	19	5
MUT:NPC1:Val1212Met	PROT:O15118	NPC1	V	1212	M	V1212M	Likely pathogenic	1	2	19	5
MUT:NPC1:Val378Ala	PROT:O15118	NPC1	V	378	A	V378A	Pathogenic/Likely pathogenic	1	2	19	4
MUT:NPC1:Val378Phe	PROT:O15118	NPC1	V	378	F	V378F	Likely pathogenic	1	1	19	4
MUT:NPC1:Val429Gly	PROT:O15118	NPC1	V	429	G	V429G	Likely pathogenic	1	1	19	35
MUT:NPC1:Val517Glu	PROT:O15118	NPC1	V	517	E	V517E	Likely pathogenic	1	1	19	68
MUT:NPC1:Val664Leu	PROT:O15118	NPC1	V	664	L	V664L	Likely pathogenic	1	1	19	79
MUT:NPC1:Val664Met	PROT:O15118	NPC1	V	664	M	V664M	Pathogenic	1	3	19	79
MUT:NPC1:Val810Ile	PROT:O15118	NPC1	V	810	I	V810I	Likely benign	0	2	19	12
MUT:NPC1:Val889Met	PROT:O15118	NPC1	V	889	M	V889M	Pathogenic	1	1	19	12
MUT:NPC1:Val920Met	PROT:O15118	NPC1	V	920	M	V920M	Likely pathogenic	1	1	19	17
MUT:NPC1:Val950Gly	PROT:O15118	NPC1	V	950	G	V950G	Pathogenic/Likely pathogenic	1	2	19	37
MUT:NPC1:Val950Met	PROT:O15118	NPC1	V	950	M	V950M	Pathogenic/Likely pathogenic	1	2	19	37
MUT:NPC1L1:Ala310Ser	PROT:Q9UHC9	NPC1L1	A	310	S	A310S	Benign	0	6	2	254
MUT:NPC1L1:Arg417Trp	PROT:Q9UHC9	NPC1L1	R	417	W	R417W	Likely benign	0	1	2	361
MUT:NPC1L1:Glu1281Lys	PROT:Q9UHC9	NPC1L1	E	1281	K	E1281K	Benign	0	1	2	49
MUT:NPC1L1:Ile1206Asn	PROT:Q9UHC9	NPC1L1	I	1206	N	I1206N	Likely benign	0	1	2	26
MUT:NPC1L1:Val360Ile	PROT:Q9UHC9	NPC1L1	V	360	I	V360I	Benign	0	1	2	304
MUT:NPHP3:Ala150Val	PROT:Q7Z494	NPHP3	A	150	V	A150V	Benign/Likely benign	0	5	7	29
MUT:NPHP3:Arg1074His	PROT:Q7Z494	NPHP3	R	1074	H	R1074H	Likely benign	0	2	7	143
MUT:NPHP3:Arg1305Cys	PROT:Q7Z494	NPHP3	R	1305	C	R1305C	Benign/Likely benign	0	5	7	3
MUT:NPHP3:Arg170Ser	PROT:Q7Z494	NPHP3	R	170	S	R170S	Likely benign	0	1	7	9
MUT:NPHP3:Asp640Glu	PROT:Q7Z494	NPHP3	D	640	E	D640E	Pathogenic/Likely pathogenic	1	1	7	461
MUT:NPHP3:Glu330Lys	PROT:Q7Z494	NPHP3	E	330	K	E330K	Pathogenic	1	1	7	151
MUT:NPHP3:Gly505Glu	PROT:Q7Z494	NPHP3	G	505	E	G505E	Likely benign	0	2	7	326
MUT:NPHP3:Gly533Asp	PROT:Q7Z494	NPHP3	G	533	D	G533D	Likely pathogenic	1	1	7	354
MUT:NPHP3:Ile484Met	PROT:Q7Z494	NPHP3	I	484	M	I484M	Likely benign	0	2	7	305
MUT:NPHP3:Leu1253Val	PROT:Q7Z494	NPHP3	L	1253	V	L1253V	Likely pathogenic	1	3	7	33
MUT:NPHP3:Leu790Pro	PROT:Q7Z494	NPHP3	L	790	P	L790P	Pathogenic/Likely pathogenic	1	4	7	427
MUT:NPHP3:Pro643Leu	PROT:Q7Z494	NPHP3	P	643	L	P643L	Likely pathogenic	1	2	7	464
MUT:NPHP3:Ser1314Thr	PROT:Q7Z494	NPHP3	S	1314	T	S1314T	Benign/Likely benign	0	4	7	6
MUT:NPHP3:Ser360Thr	PROT:Q7Z494	NPHP3	S	360	T	S360T	Pathogenic	1	1	7	181
MUT:NPHS2:Ala213Thr	PROT:Q9NP85	NPHS2	A	213	T	A213T	Likely pathogenic	1	1	8	2
MUT:NPHS2:Ala248Thr	PROT:Q9NP85	NPHS2	A	248	T	A248T	Likely pathogenic	1	1	8	29
MUT:NPHS2:Ala284Val	PROT:Q9NP85	NPHS2	A	284	V	A284V	Pathogenic/Likely pathogenic	1	3	8	7
MUT:NPHS2:Ala297Val	PROT:Q9NP85	NPHS2	A	297	V	A297V	Pathogenic/Likely pathogenic	1	4	8	2
MUT:NPHS2:Ala308Val	PROT:Q9NP85	NPHS2	A	308	V	A308V	Likely pathogenic	1	2	8	5
MUT:NPHS2:Ala61Val	PROT:Q9NP85	NPHS2	A	61	V	A61V	Benign/Likely benign	0	1	8	70
MUT:NPHS2:Arg138Gln	PROT:Q9NP85	NPHS2	R	138	Q	R138Q	Pathogenic/Likely pathogenic	1	6	8	7
MUT:NPHS2:Arg138Pro	PROT:Q9NP85	NPHS2	R	138	P	R138P	Likely pathogenic	1	1	8	7
MUT:NPHS2:Arg168Cys	PROT:Q9NP85	NPHS2	R	168	C	R168C	Pathogenic/Likely pathogenic	1	2	8	26
MUT:NPHS2:Arg168His	PROT:Q9NP85	NPHS2	R	168	H	R168H	Pathogenic/Likely pathogenic	1	4	8	26
MUT:NPHS2:Arg238Ser	PROT:Q9NP85	NPHS2	R	238	S	R238S	Pathogenic/Likely pathogenic	1	4	8	27
MUT:NPHS2:Arg291Trp	PROT:Q9NP85	NPHS2	R	291	W	R291W	Pathogenic/Likely pathogenic	1	2	8	8
MUT:NPHS2:Arg322Gly	PROT:Q9NP85	NPHS2	R	322	G	R322G	Likely pathogenic	1	2	8	9
MUT:NPHS2:Asn374Tyr	PROT:Q9NP85	NPHS2	N	374	Y	N374Y	Likely pathogenic	1	1	8	6
MUT:NPHS2:Asp160Gly	PROT:Q9NP85	NPHS2	D	160	G	D160G	Likely pathogenic	1	1	8	29
MUT:NPHS2:Asp160Val	PROT:Q9NP85	NPHS2	D	160	V	D160V	Likely pathogenic	1	1	8	29
MUT:NPHS2:Cys124Arg	PROT:Q9NP85	NPHS2	C	124	R	C124R	Pathogenic/Likely pathogenic	1	1	8	7
MUT:NPHS2:Glu198Ala	PROT:Q9NP85	NPHS2	E	198	A	E198A	Likely pathogenic	1	1	8	3
MUT:NPHS2:Glu281Lys	PROT:Q9NP85	NPHS2	E	281	K	E281K	Likely pathogenic	1	1	8	4
MUT:NPHS2:Glu310Lys	PROT:Q9NP85	NPHS2	E	310	K	E310K	Pathogenic/Likely pathogenic	1	3	8	3
MUT:NPHS2:Glu310Val	PROT:Q9NP85	NPHS2	E	310	V	E310V	Pathogenic	1	1	8	3
MUT:NPHS2:Gly42Arg	PROT:Q9NP85	NPHS2	G	42	R	G42R	Benign/Likely benign	0	2	8	89
MUT:NPHS2:Gly92Cys	PROT:Q9NP85	NPHS2	G	92	C	G92C	Pathogenic	1	1	8	39
MUT:NPHS2:Leu139Pro	PROT:Q9NP85	NPHS2	L	139	P	L139P	Likely pathogenic	1	1	8	8
MUT:NPHS2:Leu169Pro	PROT:Q9NP85	NPHS2	L	169	P	L169P	Pathogenic	1	2	8	25
MUT:NPHS2:Leu327Phe	PROT:Q9NP85	NPHS2	L	327	F	L327F	Likely pathogenic	1	1	8	14
MUT:NPHS2:Lys126Asn	PROT:Q9NP85	NPHS2	K	126	N	K126N	Likely pathogenic	1	2	8	5
MUT:NPHS2:Lys289Glu	PROT:Q9NP85	NPHS2	K	289	E	K289E	Likely pathogenic	1	1	8	10
MUT:NPHS2:Met1Ile	PROT:Q9NP85	NPHS2	M	1	I	M1I	Likely pathogenic	1	1	8	130
MUT:NPHS2:Met1Leu	PROT:Q9NP85	NPHS2	M	1	L	M1L	Pathogenic	1	2	8	130
MUT:NPHS2:Met1Thr	PROT:Q9NP85	NPHS2	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	8	130
MUT:NPHS2:Pro118Leu	PROT:Q9NP85	NPHS2	P	118	L	P118L	Pathogenic/Likely pathogenic	1	2	8	13
MUT:NPHS2:Pro271Leu	PROT:Q9NP85	NPHS2	P	271	L	P271L	Likely pathogenic	1	1	8	6
MUT:NPHS2:Ser120Pro	PROT:Q9NP85	NPHS2	S	120	P	S120P	Likely pathogenic	1	1	8	11
MUT:NPHS2:Val127Ile	PROT:Q9NP85	NPHS2	V	127	I	V127I	Likely pathogenic	1	1	8	4
MUT:NPHS2:Val180Met	PROT:Q9NP85	NPHS2	V	180	M	V180M	Pathogenic	1	2	8	14
MUT:NPHS2:Val260Glu	PROT:Q9NP85	NPHS2	V	260	E	V260E	Pathogenic	1	3	8	17
MUT:NPHS2:Val290Met	PROT:Q9NP85	NPHS2	V	290	M	V290M	Pathogenic/Likely pathogenic	1	3	8	9
MUT:NPPA:Gln91Arg	PROT:P01160	NPPA	Q	91	R	Q91R	Benign/Likely benign	0	1	2	38
MUT:NPPA:Gly98Arg	PROT:P01160	NPPA	G	98	R	G98R	Likely benign	0	1	2	31
MUT:NPPA:Leu118Met	PROT:P01160	NPPA	L	118	M	L118M	Likely benign	0	1	2	11
MUT:NPPA:Met28Thr	PROT:P01160	NPPA	M	28	T	M28T	Benign/Likely benign	0	1	2	101
MUT:NPPA:Pro66Thr	PROT:P01160	NPPA	P	66	T	P66T	Likely benign	0	1	2	63
MUT:NPPA:Ser64Arg	PROT:P01160	NPPA	S	64	R	S64R	Benign/Likely benign	0	2	2	65
MUT:NPPA:Val32Met	PROT:P01160	NPPA	V	32	M	V32M	Benign	0	1	2	97
MUT:NPR2:Ala488Pro	PROT:P20594	NPR2	A	488	P	A488P	Pathogenic	1	1	11	1
MUT:NPR2:Arg388Gln	PROT:P20594	NPR2	R	388	Q	R388Q	Pathogenic	1	1	11	101
MUT:NPR2:Arg655Cys	PROT:P20594	NPR2	R	655	C	R655C	Pathogenic	1	1	11	94
MUT:NPR2:Arg749Trp	PROT:P20594	NPR2	R	749	W	R749W	Pathogenic/Likely pathogenic	1	1	11	42
MUT:NPR2:Arg787Trp	PROT:P20594	NPR2	R	787	W	R787W	Benign/Likely benign	0	2	11	4
MUT:NPR2:Arg957Cys	PROT:P20594	NPR2	R	957	C	R957C	Likely pathogenic	1	1	11	137
MUT:NPR2:Arg957His	PROT:P20594	NPR2	R	957	H	R957H	Likely pathogenic	1	1	11	137
MUT:NPR2:Arg989Gln	PROT:P20594	NPR2	R	989	Q	R989Q	Pathogenic	1	2	11	169
MUT:NPR2:Arg989Leu	PROT:P20594	NPR2	R	989	L	R989L	Pathogenic/Likely pathogenic	1	2	11	169
MUT:NPR2:Asp176Glu	PROT:P20594	NPR2	D	176	E	D176E	Pathogenic	1	1	11	13
MUT:NPR2:Asp706His	PROT:P20594	NPR2	D	706	H	D706H	Likely pathogenic	1	1	11	85
MUT:NPR2:Asp982Asn	PROT:P20594	NPR2	D	982	N	D982N	Pathogenic	1	1	11	162
MUT:NPR2:Asp982Val	PROT:P20594	NPR2	D	982	V	D982V	Likely pathogenic	1	1	11	162
MUT:NPR2:Cys768Arg	PROT:P20594	NPR2	C	768	R	C768R	Pathogenic	1	1	11	23
MUT:NPR2:Gln417Lys	PROT:P20594	NPR2	Q	417	K	Q417K	Likely pathogenic	1	1	11	72
MUT:NPR2:Glu260Val	PROT:P20594	NPR2	E	260	V	E260V	Likely pathogenic	1	1	11	97
MUT:NPR2:Gly100Ser	PROT:P20594	NPR2	G	100	S	G100S	Likely pathogenic	1	1	11	63
MUT:NPR2:Leu348Pro	PROT:P20594	NPR2	L	348	P	L348P	Likely pathogenic	1	1	11	141
MUT:NPR2:Leu527Phe	PROT:P20594	NPR2	L	527	F	L527F	Pathogenic	1	1	11	1
MUT:NPR2:Met702Lys	PROT:P20594	NPR2	M	702	K	M702K	Likely benign	0	2	11	89
MUT:NPR2:Pro689Ser	PROT:P20594	NPR2	P	689	S	P689S	Likely pathogenic	1	1	11	102
MUT:NPR2:Pro93Thr	PROT:P20594	NPR2	P	93	T	P93T	Likely pathogenic	1	1	11	70
MUT:NPR2:Ser76Pro	PROT:P20594	NPR2	S	76	P	S76P	Pathogenic	1	1	11	87
MUT:NPR2:Thr907Met	PROT:P20594	NPR2	T	907	M	T907M	Pathogenic/Likely pathogenic	1	2	11	87
MUT:NPR2:Trp115Gly	PROT:P20594	NPR2	W	115	G	W115G	Pathogenic	1	1	11	48
MUT:NPR2:Tyr225Cys	PROT:P20594	NPR2	Y	225	C	Y225C	Pathogenic	1	1	11	62
MUT:NPR2:Val187Asp	PROT:P20594	NPR2	V	187	D	V187D	Pathogenic	1	1	11	24
MUT:NPR2:Val883Met	PROT:P20594	NPR2	V	883	M	V883M	Pathogenic	1	1	11	63
MUT:NPRL3:Ala496Thr	PROT:Q12980	NPRL3	A	496	T	A496T	Benign/Likely benign	0	1	2	243
MUT:NPRL3:Arg218Trp	PROT:Q12980	NPRL3	R	218	W	R218W	Benign	0	2	2	35
MUT:NPRL3:Asn184His	PROT:Q12980	NPRL3	N	184	H	N184H	Benign	0	1	2	69
MUT:NPRL3:Asn506Tyr	PROT:Q12980	NPRL3	N	506	Y	N506Y	Benign/Likely benign	0	1	2	253
MUT:NPRL3:Asp426Glu	PROT:Q12980	NPRL3	D	426	E	D426E	Benign	0	2	2	173
MUT:NPRL3:Asp56Glu	PROT:Q12980	NPRL3	D	56	E	D56E	Likely benign	0	1	2	31
MUT:NPRL3:Gln308His	PROT:Q12980	NPRL3	Q	308	H	Q308H	Pathogenic	1	1	2	55
MUT:NPRL3:Met542Thr	PROT:Q12980	NPRL3	M	542	T	M542T	Benign/Likely benign	0	1	2	289
MUT:NPRL3:Pro423Gln	PROT:Q12980	NPRL3	P	423	Q	P423Q	Benign	0	1	2	170
MUT:NPRL3:Thr388Ile	PROT:Q12980	NPRL3	T	388	I	T388I	Likely benign	0	2	2	135
MUT:NPRL3:Val342Leu	PROT:Q12980	NPRL3	V	342	L	V342L	Benign/Likely benign	0	2	2	89
MUT:NPY:Leu7Pro	PROT:P01303	NPY	L	7	P	L7P	Benign	0	1	4	43
MUT:NQO2:Lys16Arg	PROT:P16083	NQO2	K	16	R	K16R	Benign	0	1	8	61
MUT:NR0B1:Ala258Asp	PROT:P51843	NR0B1	A	258	D	A258D	Pathogenic	1	1	1	12
MUT:NR0B1:Arg267Pro	PROT:P51843	NR0B1	R	267	P	R267P	Pathogenic/Likely pathogenic	1	1	1	3
MUT:NR0B1:Arg425Gly	PROT:P51843	NR0B1	R	425	G	R425G	Pathogenic/Likely pathogenic	1	3	1	155
MUT:NR0B1:Arg425Ile	PROT:P51843	NR0B1	R	425	I	R425I	Pathogenic	1	1	1	155
MUT:NR0B1:Asn440Ile	PROT:P51843	NR0B1	N	440	I	N440I	Pathogenic	1	1	1	170
MUT:NR0B1:Cys200Trp	PROT:P51843	NR0B1	C	200	W	C200W	Benign/Likely benign	0	1	1	70
MUT:NR0B1:Gln283Pro	PROT:P51843	NR0B1	Q	283	P	Q283P	Likely pathogenic	1	1	1	13
MUT:NR0B1:Ile439Ser	PROT:P51843	NR0B1	I	439	S	I439S	Pathogenic	1	1	1	169
MUT:NR0B1:Ile470Met	PROT:P51843	NR0B1	I	470	M	I470M	Benign/Likely benign	0	1	1	200
MUT:NR0B1:Leu365Pro	PROT:P51843	NR0B1	L	365	P	L365P	Likely pathogenic	1	1	1	95
MUT:NR0B1:Leu381His	PROT:P51843	NR0B1	L	381	H	L381H	Pathogenic	1	1	1	111
MUT:NR0B1:Leu381Phe	PROT:P51843	NR0B1	L	381	F	L381F	Pathogenic/Likely pathogenic	1	1	1	111
MUT:NR0B1:Leu381Pro	PROT:P51843	NR0B1	L	381	P	L381P	Likely pathogenic	1	1	1	111
MUT:NR0B1:Leu447Pro	PROT:P51843	NR0B1	L	447	P	L447P	Pathogenic	1	1	1	177
MUT:NR0B1:Lys382Asn	PROT:P51843	NR0B1	K	382	N	K382N	Pathogenic	1	1	1	112
MUT:NR0B1:Met1Val	PROT:P51843	NR0B1	M	1	V	M1V	Likely pathogenic	1	1	1	269
MUT:NR0B1:Thr193Met	PROT:P51843	NR0B1	T	193	M	T193M	Likely benign	0	1	1	77
MUT:NR0B1:Trp291Arg	PROT:P51843	NR0B1	W	291	R	W291R	Pathogenic	1	1	1	21
MUT:NR0B1:Trp291Cys	PROT:P51843	NR0B1	W	291	C	W291C	Pathogenic	1	1	1	21
MUT:NR0B1:Trp291Ser	PROT:P51843	NR0B1	W	291	S	W291S	Pathogenic	1	1	1	21
MUT:NR0B1:Tyr380Asp	PROT:P51843	NR0B1	Y	380	D	Y380D	Pathogenic	1	1	1	110
MUT:NR0B1:Val269Asp	PROT:P51843	NR0B1	V	269	D	V269D	Pathogenic	1	1	1	1
MUT:NR1D2:Arg175Trp	PROT:Q14995	NR1D2	R	175	W	R175W	Likely pathogenic	1	1	4	12
MUT:NR1H4:Ala116Thr	PROT:Q96RI1	NR1H4	A	116	T	A116T	Likely benign	0	1	5	38
MUT:NR1H4:Gly27Cys	PROT:Q96RI1	NR1H4	G	27	C	G27C	Pathogenic	1	1	5	40
MUT:NR1H4:Gly326Arg	PROT:Q96RI1	NR1H4	G	326	R	G326R	Likely pathogenic	1	1	5	99
MUT:NR1H4:Met173Thr	PROT:Q96RI1	NR1H4	M	173	T	M173T	Likely benign	0	1	5	16
MUT:NR1H4:Thr296Ile	PROT:Q96RI1	NR1H4	T	296	I	T296I	Likely pathogenic	1	1	5	69
MUT:NR1I3:Arg97Trp	PROT:Q14994	NR1I3	R	97	W	R97W	Benign	0	1	2	59
MUT:NR3C2:Arg150His	PROT:P08235	NR3C2	R	150	H	R150H	Benign	0	1	29	18
MUT:NR3C2:Arg28His	PROT:P08235	NR3C2	R	28	H	R28H	Likely benign	0	1	29	20
MUT:NR3C2:Arg569Gly	PROT:P08235	NR3C2	R	569	G	R569G	Benign/Likely benign	0	1	29	26
MUT:NR3C2:Arg771His	PROT:P08235	NR3C2	R	771	H	R771H	Benign/Likely benign	0	1	29	10
MUT:NR3C2:Asn256Ser	PROT:P08235	NR3C2	N	256	S	N256S	Benign	0	1	29	1
MUT:NR3C2:Asn444Thr	PROT:P08235	NR3C2	N	444	T	N444T	Benign	0	2	29	15
MUT:NR3C2:Asn554Ser	PROT:P08235	NR3C2	N	554	S	N554S	Benign/Likely benign	0	5	29	11
MUT:NR3C2:Asn78Ser	PROT:P08235	NR3C2	N	78	S	N78S	Likely benign	0	1	29	33
MUT:NR3C2:Gln776Arg	PROT:P08235	NR3C2	Q	776	R	Q776R	Pathogenic	1	1	29	15
MUT:NR3C2:Glu35Gln	PROT:P08235	NR3C2	E	35	Q	E35Q	Benign/Likely benign	0	1	29	27
MUT:NR3C2:Glu972Gly	PROT:P08235	NR3C2	E	972	G	E972G	Pathogenic	1	1	29	2
MUT:NR3C2:Gly633Arg	PROT:P08235	NR3C2	G	633	R	G633R	Pathogenic	1	1	29	70
MUT:NR3C2:Leu886Arg	PROT:P08235	NR3C2	L	886	R	L886R	Likely pathogenic	1	1	29	84
MUT:NR3C2:Leu886His	PROT:P08235	NR3C2	L	886	H	L886H	Likely pathogenic	1	1	29	84
MUT:NR3C2:Leu924Pro	PROT:P08235	NR3C2	L	924	P	L924P	Likely pathogenic	1	1	29	46
MUT:NR3C2:Leu979Pro	PROT:P08235	NR3C2	L	979	P	L979P	Pathogenic	1	1	29	2
MUT:NR3C2:Ser352Tyr	PROT:P08235	NR3C2	S	352	Y	S352Y	Likely benign	0	1	29	9
MUT:NR3C2:Ser818Leu	PROT:P08235	NR3C2	S	818	L	S818L	Pathogenic	1	1	29	18
MUT:NR3C2:Ser818Trp	PROT:P08235	NR3C2	S	818	W	S818W	Likely pathogenic	1	1	29	18
MUT:NR3C2:Thr709Met	PROT:P08235	NR3C2	T	709	M	T709M	Likely benign	0	1	29	6
MUT:NR3C2:Val180Ile	PROT:P08235	NR3C2	V	180	I	V180I	Benign	0	1	29	3
MUT:NR3C2:Val860Ile	PROT:P08235	NR3C2	V	860	I	V860I	Benign/Likely benign	0	1	29	60
MUT:NR5A2:Gln351Leu	PROT:O00482	NR5A2	Q	351	L	Q351L	Likely benign	0	1	2	159
MUT:NR5A2:Thr295Met	PROT:O00482	NR5A2	T	295	M	T295M	Likely benign	0	1	2	215
MUT:NRAS:Ala59Asp	PROT:P01111	NRAS	A	59	D	A59D	Likely pathogenic	1	2	10	5
MUT:NRAS:Ala59Thr	PROT:P01111	NRAS	A	59	T	A59T	Pathogenic/Likely pathogenic	1	2	10	5
MUT:NRAS:Arg68Ser	PROT:P01111	NRAS	R	68	S	R68S	Likely pathogenic	1	1	10	4
MUT:NRAS:Gln150Arg	PROT:P01111	NRAS	Q	150	R	Q150R	Likely pathogenic	1	1	10	3
MUT:NRAS:Gln61Arg	PROT:P01111	NRAS	Q	61	R	Q61R	Pathogenic	1	16	10	3
MUT:NRAS:Gln61Pro	PROT:P01111	NRAS	Q	61	P	Q61P	Pathogenic	1	1	10	3
MUT:NRAS:Gly12Ala	PROT:P01111	NRAS	G	12	A	G12A	Pathogenic/Likely pathogenic	1	8	10	20
MUT:NRAS:Gly12Arg	PROT:P01111	NRAS	G	12	R	G12R	Pathogenic	1	2	10	20
MUT:NRAS:Gly12Asp	PROT:P01111	NRAS	G	12	D	G12D	Pathogenic/Likely pathogenic	1	11	10	20
MUT:NRAS:Gly12Cys	PROT:P01111	NRAS	G	12	C	G12C	Pathogenic	1	4	10	20
MUT:NRAS:Gly12Phe	PROT:P01111	NRAS	G	12	F	G12F	Likely pathogenic	1	1	10	20
MUT:NRAS:Gly12Ser	PROT:P01111	NRAS	G	12	S	G12S	Pathogenic	1	5	10	20
MUT:NRAS:Gly12Val	PROT:P01111	NRAS	G	12	V	G12V	Pathogenic/Likely pathogenic	1	7	10	20
MUT:NRAS:Gly13Arg	PROT:P01111	NRAS	G	13	R	G13R	Likely pathogenic	1	6	10	19
MUT:NRAS:Gly13Asp	PROT:P01111	NRAS	G	13	D	G13D	Pathogenic/Likely pathogenic	1	14	10	19
MUT:NRAS:Gly13Val	PROT:P01111	NRAS	G	13	V	G13V	Likely pathogenic	1	3	10	19
MUT:NRAS:Gly60Glu	PROT:P01111	NRAS	G	60	E	G60E	Pathogenic	1	4	10	4
MUT:NRAS:Ile24Asn	PROT:P01111	NRAS	I	24	N	I24N	Likely pathogenic	1	2	10	8
MUT:NRAS:Ile36Met	PROT:P01111	NRAS	I	36	M	I36M	Likely pathogenic	1	1	10	3
MUT:NRAS:Pro34Leu	PROT:P01111	NRAS	P	34	L	P34L	Pathogenic	1	3	10	2
MUT:NRAS:Thr148Ile	PROT:P01111	NRAS	T	148	I	T148I	Likely benign	0	1	10	1
MUT:NRAS:Thr50Asn	PROT:P01111	NRAS	T	50	N	T50N	Likely pathogenic	1	1	10	10
MUT:NRAS:Thr50Ile	PROT:P01111	NRAS	T	50	I	T50I	Pathogenic	1	4	10	10
MUT:NRAS:Thr58Ile	PROT:P01111	NRAS	T	58	I	T58I	Pathogenic	1	5	10	6
MUT:NRCAM:Ala1285Thr	PROT:Q92823	NRCAM	A	1285	T	A1285T	Benign	0	1	14	5
MUT:NRCAM:Arg11Cys	PROT:Q92823	NRCAM	R	11	C	R11C	Likely benign	0	1	14	87
MUT:NRCAM:Arg853His	PROT:Q92823	NRCAM	R	853	H	R853H	Likely benign	0	1	14	28
MUT:NRCAM:Asn469Ser	PROT:Q92823	NRCAM	N	469	S	N469S	Pathogenic	1	2	14	270
MUT:NRCAM:Asn858Asp	PROT:Q92823	NRCAM	N	858	D	N858D	Likely benign	0	1	14	23
MUT:NRCAM:Asp55Gly	PROT:Q92823	NRCAM	D	55	G	D55G	Pathogenic	1	1	14	43
MUT:NRCAM:Glu900Gly	PROT:Q92823	NRCAM	E	900	G	E900G	Likely benign	0	1	14	19
MUT:NRCAM:Gly197Asp	PROT:Q92823	NRCAM	G	197	D	G197D	Pathogenic	1	2	14	99
MUT:NRCAM:Gly913Asp	PROT:Q92823	NRCAM	G	913	D	G913D	Pathogenic	1	2	14	32
MUT:NRCAM:Pro453Ala	PROT:Q92823	NRCAM	P	453	A	P453A	Likely benign	0	1	14	286
MUT:NRCAM:Ser744Ala	PROT:Q92823	NRCAM	S	744	A	S744A	Likely benign	0	1	14	5
MUT:NRCAM:Thr678Ala	PROT:Q92823	NRCAM	T	678	A	T678A	Likely benign	0	1	14	61
MUT:NRG1:Ala158Val	PROT:Q02297	NRG1	A	158	V	A158V	Benign	0	1	6	237
MUT:NRG1:Ala547Val	PROT:Q02297	NRG1	A	547	V	A547V	Likely benign	0	1	6	19
MUT:NRG1:Arg38Gln	PROT:Q02297	NRG1	R	38	Q	R38Q	Benign	0	1	6	357
MUT:NRG1:Arg4Gln	PROT:Q02297	NRG1	R	4	Q	R4Q	Benign	0	1	6	391
MUT:NRG1:Arg545Gln	PROT:Q02297	NRG1	R	545	Q	R545Q	Benign	0	1	6	17
MUT:NRG1:Arg9His	PROT:Q02297	NRG1	R	9	H	R9H	Likely benign	0	1	6	386
MUT:NRG1:Glu366Lys	PROT:Q02297	NRG1	E	366	K	E366K	Benign	0	1	6	29
MUT:NRG1:Gly616Val	PROT:Q02297	NRG1	G	616	V	G616V	Benign	0	1	6	88
MUT:NRG1:Leu75Pro	PROT:Q02297	NRG1	L	75	P	L75P	Benign	0	1	6	320
MUT:NRG1:Met289Thr	PROT:Q02297	NRG1	M	289	T	M289T	Benign	0	1	6	106
MUT:NRG1:Pro603His	PROT:Q02297	NRG1	P	603	H	P603H	Benign	0	1	6	75
MUT:NRG1:Thr411Ser	PROT:Q02297	NRG1	T	411	S	T411S	Likely benign	0	1	6	7
MUT:NRIP1:Ala680Thr	PROT:P48552	NRIP1	A	680	T	A680T	Likely benign	0	2	24	9
MUT:NRIP1:Ala792Thr	PROT:P48552	NRIP1	A	792	T	A792T	Likely benign	0	1	24	15
MUT:NRIP1:Arg214Gly	PROT:P48552	NRIP1	R	214	G	R214G	Likely benign	0	1	24	4
MUT:NRIP1:Arg947Gln	PROT:P48552	NRIP1	R	947	Q	R947Q	Likely benign	0	2	24	16
MUT:NRIP1:Asn326Lys	PROT:P48552	NRIP1	N	326	K	N326K	Benign	0	1	24	16
MUT:NRIP1:His221Arg	PROT:P48552	NRIP1	H	221	R	H221R	Benign	0	1	24	3
MUT:NRIP1:His44Arg	PROT:P48552	NRIP1	H	44	R	H44R	Likely benign	0	1	24	58
MUT:NRIP1:Ile441Val	PROT:P48552	NRIP1	I	441	V	I441V	Likely benign	0	1	24	5
MUT:NRIP1:Ile877Val	PROT:P48552	NRIP1	I	877	V	I877V	Likely benign	0	1	24	14
MUT:NRIP1:Leu1068Pro	PROT:P48552	NRIP1	L	1068	P	L1068P	Likely pathogenic	1	1	24	17
MUT:NRIP1:Phe902Cys	PROT:P48552	NRIP1	F	902	C	F902C	Likely benign	0	1	24	39
MUT:NRIP1:Pro691Ser	PROT:P48552	NRIP1	P	691	S	P691S	Likely benign	0	1	24	20
MUT:NRIP1:Ser1138Gly	PROT:P48552	NRIP1	S	1138	G	S1138G	Benign/Likely benign	0	1	24	23
MUT:NRIP1:Ser122Asn	PROT:P48552	NRIP1	S	122	N	S122N	Likely benign	0	1	24	11
MUT:NRIP1:Ser165Asn	PROT:P48552	NRIP1	S	165	N	S165N	Likely benign	0	1	24	7
MUT:NRIP1:Thr1152Met	PROT:P48552	NRIP1	T	1152	M	T1152M	Likely benign	0	2	24	37
MUT:NRIP1:Thr517Ala	PROT:P48552	NRIP1	T	517	A	T517A	Likely benign	0	1	24	1
MUT:NRIP1:Tyr1144Asp	PROT:P48552	NRIP1	Y	1144	D	Y1144D	Benign/Likely benign	0	1	24	29
MUT:NRL:Arg207Cys	PROT:P54845	NRL	R	207	C	R207C	Likely pathogenic	1	1	4	90
MUT:NRL:Asp64Asn	PROT:P54845	NRL	D	64	N	D64N	Benign/Likely benign	0	1	4	12
MUT:NRL:Gln124Pro	PROT:P54845	NRL	Q	124	P	Q124P	Likely pathogenic	1	1	4	7
MUT:NRL:Leu160Pro	PROT:P54845	NRL	L	160	P	L160P	Likely pathogenic	1	1	4	43
MUT:NRL:Leu235Phe	PROT:P54845	NRL	L	235	F	L235F	Benign	0	1	4	118
MUT:NRL:Pro51Arg	PROT:P54845	NRL	P	51	R	P51R	Likely pathogenic	1	1	4	1
MUT:NRL:Pro51Leu	PROT:P54845	NRL	P	51	L	P51L	Pathogenic/Likely pathogenic	1	2	4	1
MUT:NRL:Pro51Ser	PROT:P54845	NRL	P	51	S	P51S	Pathogenic/Likely pathogenic	1	2	4	1
MUT:NRL:Ser50Leu	PROT:P54845	NRL	S	50	L	S50L	Pathogenic/Likely pathogenic	1	1	4	0
MUT:NRL:Ser50Pro	PROT:P54845	NRL	S	50	P	S50P	Pathogenic/Likely pathogenic	1	1	4	0
MUT:NRL:Ser50Thr	PROT:P54845	NRL	S	50	T	S50T	Pathogenic	1	1	4	0
MUT:NRP1:Glu834Lys	PROT:O14786	NRP1	E	834	K	E834K	Benign/Likely benign	0	1	9	60
MUT:NRP1:Ile370Thr	PROT:O14786	NRP1	I	370	T	I370T	Likely benign	0	1	9	6
MUT:NRP1:Leu574Val	PROT:O14786	NRP1	L	574	V	L574V	Likely benign	0	1	9	142
MUT:NRP1:Phe561Leu	PROT:O14786	NRP1	F	561	L	F561L	Benign	0	1	9	129
MUT:NRP1:Ser267Asn	PROT:O14786	NRP1	S	267	N	S267N	Benign	0	1	9	97
MUT:NRP1:Ser432Phe	PROT:O14786	NRP1	S	432	F	S432F	Likely benign	0	1	9	0
MUT:NRP1:Ser520Gly	PROT:O14786	NRP1	S	520	G	S520G	Likely benign	0	1	9	88
MUT:NRP1:Ser524Leu	PROT:O14786	NRP1	S	524	L	S524L	Benign	0	1	9	92
MUT:NRP1:Val15Ala	PROT:O14786	NRP1	V	15	A	V15A	Likely benign	0	1	9	38
MUT:NRP1:Val733Ile	PROT:O14786	NRP1	V	733	I	V733I	Benign	0	1	9	161
MUT:NRROS:Arg449Gln	PROT:Q86YC3	NRROS	R	449	Q	R449Q	Likely benign	0	1	2	291
MUT:NRROS:Arg639Gln	PROT:Q86YC3	NRROS	R	639	Q	R639Q	Likely benign	0	1	2	481
MUT:NRROS:Arg645Gln	PROT:Q86YC3	NRROS	R	645	Q	R645Q	Likely benign	0	1	2	487
MUT:NRROS:Arg685His	PROT:Q86YC3	NRROS	R	685	H	R685H	Likely benign	0	1	2	527
MUT:NRROS:Cys116Ser	PROT:Q86YC3	NRROS	C	116	S	C116S	Likely benign	0	1	2	42
MUT:NRROS:Gly203Ser	PROT:Q86YC3	NRROS	G	203	S	G203S	Likely benign	0	1	2	45
MUT:NRROS:Gly38Asp	PROT:Q86YC3	NRROS	G	38	D	G38D	Likely benign	0	1	2	3
MUT:NRROS:Leu10Pro	PROT:Q86YC3	NRROS	L	10	P	L10P	Pathogenic	1	1	2	25
MUT:NRROS:Leu541Ile	PROT:Q86YC3	NRROS	L	541	I	L541I	Likely benign	0	1	2	383
MUT:NRROS:Leu62Pro	PROT:Q86YC3	NRROS	L	62	P	L62P	Pathogenic	1	1	2	27
MUT:NRROS:Ser54Asn	PROT:Q86YC3	NRROS	S	54	N	S54N	Likely benign	0	1	2	19
MUT:NRROS:Ser583Leu	PROT:Q86YC3	NRROS	S	583	L	S583L	Likely benign	0	1	2	425
MUT:NRROS:Val630Leu	PROT:Q86YC3	NRROS	V	630	L	V630L	Likely benign	0	1	2	472
MUT:NRROS:Val654Met	PROT:Q86YC3	NRROS	V	654	M	V654M	Likely benign	0	1	2	496
MUT:NRXN1:Ala1199Thr	PROT:Q9ULB1	NRXN1	A	1199	T	A1199T	Likely benign	0	1	6	242
MUT:NRXN1:Asp611Val	PROT:Q9ULB1	NRXN1	D	611	V	D611V	Likely benign	0	1	6	53
MUT:NRXN1:Leu566Pro	PROT:Q9ULB1	NRXN1	L	566	P	L566P	Likely benign	0	1	6	98
MUT:NRXN1:Leu708Ile	PROT:Q9ULB1	NRXN1	L	708	I	L708I	Benign/Likely benign	0	1	6	37
MUT:NRXN1:Pro429Ser	PROT:Q9ULB1	NRXN1	P	429	S	P429S	Benign/Likely benign	0	2	6	88
MUT:NRXN1:Ser1038Ala	PROT:Q9ULB1	NRXN1	S	1038	A	S1038A	Likely benign	0	1	6	367
MUT:NSD1:Ala1036Pro	PROT:Q96L73	NSD1	A	1036	P	A1036P	Benign	0	1	56	9
MUT:NSD1:Ala1837Asp	PROT:Q96L73	NSD1	A	1837	D	A1837D	Likely pathogenic	1	1	56	22
MUT:NSD1:Ala1927Asp	PROT:Q96L73	NSD1	A	1927	D	A1927D	Likely pathogenic	1	1	56	37
MUT:NSD1:Ala24Ser	PROT:Q96L73	NSD1	A	24	S	A24S	Likely pathogenic	1	1	56	200
MUT:NSD1:Ala2546Thr	PROT:Q96L73	NSD1	A	2546	T	A2546T	Benign	0	1	56	14
MUT:NSD1:Ala2594Thr	PROT:Q96L73	NSD1	A	2594	T	A2594T	Likely benign	0	1	56	5
MUT:NSD1:Ala495Thr	PROT:Q96L73	NSD1	A	495	T	A495T	Likely benign	0	1	56	9
MUT:NSD1:Ala499Thr	PROT:Q96L73	NSD1	A	499	T	A499T	Benign/Likely benign	0	1	56	13
MUT:NSD1:Ala564Ser	PROT:Q96L73	NSD1	A	564	S	A564S	Benign/Likely benign	0	1	56	1
MUT:NSD1:Ala691Thr	PROT:Q96L73	NSD1	A	691	T	A691T	Benign	0	1	56	43
MUT:NSD1:Ala719Thr	PROT:Q96L73	NSD1	A	719	T	A719T	Likely benign	0	1	56	15
MUT:NSD1:Ala750Val	PROT:Q96L73	NSD1	A	750	V	A750V	Likely benign	0	1	56	2
MUT:NSD1:Arg1074His	PROT:Q96L73	NSD1	R	1074	H	R1074H	Benign	0	1	56	3
MUT:NSD1:Arg1188Ser	PROT:Q96L73	NSD1	R	1188	S	R1188S	Benign/Likely benign	0	1	56	45
MUT:NSD1:Arg1200Trp	PROT:Q96L73	NSD1	R	1200	W	R1200W	Benign/Likely benign	0	1	56	43
MUT:NSD1:Arg1233Gln	PROT:Q96L73	NSD1	R	1233	Q	R1233Q	Likely benign	0	1	56	10
MUT:NSD1:Arg1268Gln	PROT:Q96L73	NSD1	R	1268	Q	R1268Q	Benign/Likely benign	0	2	56	1
MUT:NSD1:Arg1322Gln	PROT:Q96L73	NSD1	R	1322	Q	R1322Q	Likely benign	0	1	56	53
MUT:NSD1:Arg1473Gln	PROT:Q96L73	NSD1	R	1473	Q	R1473Q	Likely benign	0	1	56	34
MUT:NSD1:Arg1660His	PROT:Q96L73	NSD1	R	1660	H	R1660H	Likely pathogenic	1	1	56	118
MUT:NSD1:Arg1811Gln	PROT:Q96L73	NSD1	R	1811	Q	R1811Q	Pathogenic	1	1	56	4
MUT:NSD1:Arg1914Cys	PROT:Q96L73	NSD1	R	1914	C	R1914C	Pathogenic	1	1	56	43
MUT:NSD1:Arg1914Leu	PROT:Q96L73	NSD1	R	1914	L	R1914L	Pathogenic	1	1	56	43
MUT:NSD1:Arg1914Pro	PROT:Q96L73	NSD1	R	1914	P	R1914P	Likely pathogenic	1	1	56	43
MUT:NSD1:Arg1952Trp	PROT:Q96L73	NSD1	R	1952	W	R1952W	Pathogenic/Likely pathogenic	1	2	56	12
MUT:NSD1:Arg1984Gln	PROT:Q96L73	NSD1	R	1984	Q	R1984Q	Pathogenic	1	1	56	3
MUT:NSD1:Arg2005Gln	PROT:Q96L73	NSD1	R	2005	Q	R2005Q	Pathogenic/Likely pathogenic	1	2	56	7
MUT:NSD1:Arg2005Gly	PROT:Q96L73	NSD1	R	2005	G	R2005G	Likely pathogenic	1	1	56	7
MUT:NSD1:Arg2005Pro	PROT:Q96L73	NSD1	R	2005	P	R2005P	Pathogenic	1	1	56	7
MUT:NSD1:Arg2017Gln	PROT:Q96L73	NSD1	R	2017	Q	R2017Q	Pathogenic/Likely pathogenic	1	1	56	5
MUT:NSD1:Arg2017Trp	PROT:Q96L73	NSD1	R	2017	W	R2017W	Pathogenic	1	1	56	5
MUT:NSD1:Arg2039His	PROT:Q96L73	NSD1	R	2039	H	R2039H	Likely pathogenic	1	1	56	27
MUT:NSD1:Arg2152Gln	PROT:Q96L73	NSD1	R	2152	Q	R2152Q	Pathogenic/Likely pathogenic	1	1	56	57
MUT:NSD1:Arg2219His	PROT:Q96L73	NSD1	R	2219	H	R2219H	Pathogenic	1	1	56	69
MUT:NSD1:Arg2468Gln	PROT:Q96L73	NSD1	R	2468	Q	R2468Q	Benign/Likely benign	0	1	56	3
MUT:NSD1:Arg2537Ser	PROT:Q96L73	NSD1	R	2537	S	R2537S	Likely benign	0	1	56	6
MUT:NSD1:Arg358Trp	PROT:Q96L73	NSD1	R	358	W	R358W	Likely benign	0	1	56	93
MUT:NSD1:Arg440Gln	PROT:Q96L73	NSD1	R	440	Q	R440Q	Likely benign	0	1	56	11
MUT:NSD1:Arg525Gln	PROT:Q96L73	NSD1	R	525	Q	R525Q	Benign/Likely benign	0	1	56	3
MUT:NSD1:Arg553Lys	PROT:Q96L73	NSD1	R	553	K	R553K	Likely benign	0	1	56	10
MUT:NSD1:Arg604Gln	PROT:Q96L73	NSD1	R	604	Q	R604Q	Benign/Likely benign	0	1	56	3
MUT:NSD1:Arg604Leu	PROT:Q96L73	NSD1	R	604	L	R604L	Benign	0	2	56	3
MUT:NSD1:Arg926Gln	PROT:Q96L73	NSD1	R	926	Q	R926Q	Likely benign	0	1	56	10
MUT:NSD1:Asn1650Ser	PROT:Q96L73	NSD1	N	1650	S	N1650S	Benign/Likely benign	0	1	56	108
MUT:NSD1:Asn190Ser	PROT:Q96L73	NSD1	N	190	S	N190S	Likely benign	0	1	56	34
MUT:NSD1:Asn1913Ser	PROT:Q96L73	NSD1	N	1913	S	N1913S	Pathogenic	1	1	56	42
MUT:NSD1:Asn1933Ser	PROT:Q96L73	NSD1	N	1933	S	N1933S	Likely pathogenic	1	1	56	31
MUT:NSD1:Asn2020His	PROT:Q96L73	NSD1	N	2020	H	N2020H	Likely pathogenic	1	1	56	8
MUT:NSD1:Asn2020Ser	PROT:Q96L73	NSD1	N	2020	S	N2020S	Pathogenic	1	1	56	8
MUT:NSD1:Asp1001Asn	PROT:Q96L73	NSD1	D	1001	N	D1001N	Benign	0	1	56	23
MUT:NSD1:Asp1004Glu	PROT:Q96L73	NSD1	D	1004	E	D1004E	Likely benign	0	1	56	20
MUT:NSD1:Asp1419Glu	PROT:Q96L73	NSD1	D	1419	E	D1419E	Likely benign	0	1	56	37
MUT:NSD1:Asp1522Asn	PROT:Q96L73	NSD1	D	1522	N	D1522N	Benign/Likely benign	0	1	56	12
MUT:NSD1:Asp1819Gly	PROT:Q96L73	NSD1	D	1819	G	D1819G	Likely pathogenic	1	1	56	4
MUT:NSD1:Asp1824Gly	PROT:Q96L73	NSD1	D	1824	G	D1824G	Likely pathogenic	1	1	56	9
MUT:NSD1:Asp2119Gly	PROT:Q96L73	NSD1	D	2119	G	D2119G	Pathogenic/Likely pathogenic	1	1	56	24
MUT:NSD1:Asp2126Val	PROT:Q96L73	NSD1	D	2126	V	D2126V	Pathogenic	1	1	56	31
MUT:NSD1:Asp2331Asn	PROT:Q96L73	NSD1	D	2331	N	D2331N	Likely benign	0	2	56	3
MUT:NSD1:Asp2460Gly	PROT:Q96L73	NSD1	D	2460	G	D2460G	Benign	0	1	56	2
MUT:NSD1:Asp732Asn	PROT:Q96L73	NSD1	D	732	N	D732N	Benign/Likely benign	0	1	56	2
MUT:NSD1:Cys132Ser	PROT:Q96L73	NSD1	C	132	S	C132S	Benign/Likely benign	0	1	56	92
MUT:NSD1:Cys1586Arg	PROT:Q96L73	NSD1	C	1586	R	C1586R	Likely pathogenic	1	1	56	44
MUT:NSD1:Cys1606Tyr	PROT:Q96L73	NSD1	C	1606	Y	C1606Y	Pathogenic/Likely pathogenic	1	1	56	64
MUT:NSD1:Cys1611Arg	PROT:Q96L73	NSD1	C	1611	R	C1611R	Likely pathogenic	1	1	56	69
MUT:NSD1:Cys1619Gly	PROT:Q96L73	NSD1	C	1619	G	C1619G	Pathogenic	1	1	56	77
MUT:NSD1:Cys1619Ser	PROT:Q96L73	NSD1	C	1619	S	C1619S	Pathogenic	1	1	56	77
MUT:NSD1:Cys1635Gly	PROT:Q96L73	NSD1	C	1635	G	C1635G	Likely pathogenic	1	1	56	93
MUT:NSD1:Cys1640Tyr	PROT:Q96L73	NSD1	C	1640	Y	C1640Y	Pathogenic	1	1	56	98
MUT:NSD1:Cys1643Ser	PROT:Q96L73	NSD1	C	1643	S	C1643S	Pathogenic	1	1	56	101
MUT:NSD1:Cys1674Tyr	PROT:Q96L73	NSD1	C	1674	Y	C1674Y	Likely pathogenic	1	1	56	132
MUT:NSD1:Cys1689Ser	PROT:Q96L73	NSD1	C	1689	S	C1689S	Likely pathogenic	1	1	56	126
MUT:NSD1:Cys1733Phe	PROT:Q96L73	NSD1	C	1733	F	C1733F	Pathogenic/Likely pathogenic	1	1	56	82
MUT:NSD1:Cys1733Tyr	PROT:Q96L73	NSD1	C	1733	Y	C1733Y	Likely pathogenic	1	1	56	82
MUT:NSD1:Cys1905Gly	PROT:Q96L73	NSD1	C	1905	G	C1905G	Likely pathogenic	1	1	56	34
MUT:NSD1:Cys1920Arg	PROT:Q96L73	NSD1	C	1920	R	C1920R	Likely pathogenic	1	1	56	44
MUT:NSD1:Cys1920Ser	PROT:Q96L73	NSD1	C	1920	S	C1920S	Likely pathogenic	1	1	56	44
MUT:NSD1:Cys2027Ser	PROT:Q96L73	NSD1	C	2027	S	C2027S	Likely pathogenic	1	1	56	15
MUT:NSD1:Cys2070Arg	PROT:Q96L73	NSD1	C	2070	R	C2070R	Likely pathogenic	1	1	56	16
MUT:NSD1:Cys2072Trp	PROT:Q96L73	NSD1	C	2072	W	C2072W	Likely pathogenic	1	1	56	14
MUT:NSD1:Cys2121Phe	PROT:Q96L73	NSD1	C	2121	F	C2121F	Likely pathogenic	1	1	56	26
MUT:NSD1:Cys2121Tyr	PROT:Q96L73	NSD1	C	2121	Y	C2121Y	Likely pathogenic	1	1	56	26
MUT:NSD1:Cys2159Tyr	PROT:Q96L73	NSD1	C	2159	Y	C2159Y	Pathogenic	1	1	56	64
MUT:NSD1:Cys2183Gly	PROT:Q96L73	NSD1	C	2183	G	C2183G	Pathogenic/Likely pathogenic	1	1	56	88
MUT:NSD1:Cys2183Ser	PROT:Q96L73	NSD1	C	2183	S	C2183S	Pathogenic	1	1	56	88
MUT:NSD1:Cys2202Ser	PROT:Q96L73	NSD1	C	2202	S	C2202S	Pathogenic	1	1	56	86
MUT:NSD1:Cys2202Tyr	PROT:Q96L73	NSD1	C	2202	Y	C2202Y	Pathogenic/Likely pathogenic	1	1	56	86
MUT:NSD1:Gln1259His	PROT:Q96L73	NSD1	Q	1259	H	Q1259H	Likely benign	0	1	56	2
MUT:NSD1:Gln2030Pro	PROT:Q96L73	NSD1	Q	2030	P	Q2030P	Likely pathogenic	1	1	56	18
MUT:NSD1:Gln236His	PROT:Q96L73	NSD1	Q	236	H	Q236H	Benign/Likely benign	0	1	56	3
MUT:NSD1:Gln2474Pro	PROT:Q96L73	NSD1	Q	2474	P	Q2474P	Benign/Likely benign	0	1	56	2
MUT:NSD1:Glu1248Gly	PROT:Q96L73	NSD1	E	1248	G	E1248G	Likely benign	0	1	56	5
MUT:NSD1:Glu1388Lys	PROT:Q96L73	NSD1	E	1388	K	E1388K	Benign	0	1	56	6
MUT:NSD1:Glu2217Asp	PROT:Q96L73	NSD1	E	2217	D	E2217D	Pathogenic	1	1	56	71
MUT:NSD1:Glu26Gly	PROT:Q96L73	NSD1	E	26	G	E26G	Benign/Likely benign	0	1	56	198
MUT:NSD1:Glu489Asp	PROT:Q96L73	NSD1	E	489	D	E489D	Benign/Likely benign	0	1	56	3
MUT:NSD1:Glu924Lys	PROT:Q96L73	NSD1	E	924	K	E924K	Likely benign	0	1	56	12
MUT:NSD1:Glu990Lys	PROT:Q96L73	NSD1	E	990	K	E990K	Benign/Likely benign	0	1	56	25
MUT:NSD1:Gly1150Ala	PROT:Q96L73	NSD1	G	1150	A	G1150A	Likely benign	0	1	56	7
MUT:NSD1:Gly1497Asp	PROT:Q96L73	NSD1	G	1497	D	G1497D	Likely benign	0	1	56	10
MUT:NSD1:Gly1589Arg	PROT:Q96L73	NSD1	G	1589	R	G1589R	Likely pathogenic	1	2	56	47
MUT:NSD1:Gly1656Cys	PROT:Q96L73	NSD1	G	1656	C	G1656C	Pathogenic	1	1	56	114
MUT:NSD1:Gly1717Ser	PROT:Q96L73	NSD1	G	1717	S	G1717S	Likely pathogenic	1	1	56	98
MUT:NSD1:Gly1792Arg	PROT:Q96L73	NSD1	G	1792	R	G1792R	Likely pathogenic	1	1	56	23
MUT:NSD1:Gly1792Glu	PROT:Q96L73	NSD1	G	1792	E	G1792E	Pathogenic/Likely pathogenic	1	1	56	23
MUT:NSD1:Gly1953Val	PROT:Q96L73	NSD1	G	1953	V	G1953V	Likely pathogenic	1	1	56	11
MUT:NSD1:Gly1973Asp	PROT:Q96L73	NSD1	G	1973	D	G1973D	Likely pathogenic	1	1	56	9
MUT:NSD1:Gly1973Val	PROT:Q96L73	NSD1	G	1973	V	G1973V	Likely pathogenic	1	1	56	9
MUT:NSD1:Gly2010Val	PROT:Q96L73	NSD1	G	2010	V	G2010V	Likely pathogenic	1	1	56	2
MUT:NSD1:Gly2216Glu	PROT:Q96L73	NSD1	G	2216	E	G2216E	Likely pathogenic	1	1	56	72
MUT:NSD1:His1096Tyr	PROT:Q96L73	NSD1	H	1096	Y	H1096Y	Benign/Likely benign	0	1	56	19
MUT:NSD1:His152Tyr	PROT:Q96L73	NSD1	H	152	Y	H152Y	Likely benign	0	1	56	72
MUT:NSD1:His1591Tyr	PROT:Q96L73	NSD1	H	1591	Y	H1591Y	Pathogenic	1	1	56	49
MUT:NSD1:His1616Arg	PROT:Q96L73	NSD1	H	1616	R	H1616R	Pathogenic	1	1	56	74
MUT:NSD1:His1872Gln	PROT:Q96L73	NSD1	H	1872	Q	H1872Q	Likely pathogenic	1	1	56	1
MUT:NSD1:His2143Gln	PROT:Q96L73	NSD1	H	2143	Q	H2143Q	Pathogenic	1	1	56	48
MUT:NSD1:His2162Gln	PROT:Q96L73	NSD1	H	2162	Q	H2162Q	Likely pathogenic	1	1	56	67
MUT:NSD1:His2162Pro	PROT:Q96L73	NSD1	H	2162	P	H2162P	Likely pathogenic	1	1	56	67
MUT:NSD1:His2186Arg	PROT:Q96L73	NSD1	H	2186	R	H2186R	Pathogenic/Likely pathogenic	1	1	56	91
MUT:NSD1:His2205Tyr	PROT:Q96L73	NSD1	H	2205	Y	H2205Y	Likely pathogenic	1	1	56	83
MUT:NSD1:His485Arg	PROT:Q96L73	NSD1	H	485	R	H485R	Benign/Likely benign	0	1	56	1
MUT:NSD1:Ile111Val	PROT:Q96L73	NSD1	I	111	V	I111V	Likely benign	0	1	56	113
MUT:NSD1:Ile1213Met	PROT:Q96L73	NSD1	I	1213	M	I1213M	Likely benign	0	1	56	30
MUT:NSD1:Ile146Val	PROT:Q96L73	NSD1	I	146	V	I146V	Benign/Likely benign	0	1	56	78
MUT:NSD1:Ile1641Val	PROT:Q96L73	NSD1	I	1641	V	I1641V	Likely benign	0	1	56	99
MUT:NSD1:Ile1962Thr	PROT:Q96L73	NSD1	I	1962	T	I1962T	Pathogenic	1	1	56	2
MUT:NSD1:Ile1976Lys	PROT:Q96L73	NSD1	I	1976	K	I1976K	Likely pathogenic	1	1	56	11
MUT:NSD1:Ile1976Thr	PROT:Q96L73	NSD1	I	1976	T	I1976T	Pathogenic/Likely pathogenic	1	1	56	11
MUT:NSD1:Ile2007Phe	PROT:Q96L73	NSD1	I	2007	F	I2007F	Likely pathogenic	1	1	56	5
MUT:NSD1:Ile2007Thr	PROT:Q96L73	NSD1	I	2007	T	I2007T	Pathogenic/Likely pathogenic	1	2	56	5
MUT:NSD1:Ile516Val	PROT:Q96L73	NSD1	I	516	V	I516V	Benign/Likely benign	0	1	56	12
MUT:NSD1:Ile790Met	PROT:Q96L73	NSD1	I	790	M	I790M	Likely benign	0	1	56	10
MUT:NSD1:Leu1030Phe	PROT:Q96L73	NSD1	L	1030	F	L1030F	Likely benign	0	1	56	3
MUT:NSD1:Leu1030Ser	PROT:Q96L73	NSD1	L	1030	S	L1030S	Benign/Likely benign	0	3	56	3
MUT:NSD1:Leu1091Ile	PROT:Q96L73	NSD1	L	1091	I	L1091I	Benign/Likely benign	0	1	56	14
MUT:NSD1:Leu1361Val	PROT:Q96L73	NSD1	L	1361	V	L1361V	Likely benign	0	1	56	21
MUT:NSD1:Leu1797Pro	PROT:Q96L73	NSD1	L	1797	P	L1797P	Likely pathogenic	1	1	56	18
MUT:NSD1:Leu2042Arg	PROT:Q96L73	NSD1	L	2042	R	L2042R	Pathogenic	1	1	56	30
MUT:NSD1:Leu2060Gln	PROT:Q96L73	NSD1	L	2060	Q	L2060Q	Likely pathogenic	1	1	56	26
MUT:NSD1:Leu254Phe	PROT:Q96L73	NSD1	L	254	F	L254F	Benign/Likely benign	0	2	56	21
MUT:NSD1:Leu2617Ser	PROT:Q96L73	NSD1	L	2617	S	L2617S	Benign/Likely benign	0	2	56	1
MUT:NSD1:Leu472Ile	PROT:Q96L73	NSD1	L	472	I	L472I	Likely benign	0	1	56	11
MUT:NSD1:Leu472Phe	PROT:Q96L73	NSD1	L	472	F	L472F	Benign/Likely benign	0	1	56	11
MUT:NSD1:Lys1272Ile	PROT:Q96L73	NSD1	K	1272	I	K1272I	Likely benign	0	1	56	3
MUT:NSD1:Lys127Asn	PROT:Q96L73	NSD1	K	127	N	K127N	Likely benign	0	1	56	97
MUT:NSD1:Lys2140Glu	PROT:Q96L73	NSD1	K	2140	E	K2140E	Likely pathogenic	1	1	56	45
MUT:NSD1:Lys2399Thr	PROT:Q96L73	NSD1	K	2399	T	K2399T	Benign/Likely benign	0	1	56	21
MUT:NSD1:Met1423Thr	PROT:Q96L73	NSD1	M	1423	T	M1423T	Likely benign	0	1	56	41
MUT:NSD1:Met1503Ile	PROT:Q96L73	NSD1	M	1503	I	M1503I	Benign/Likely benign	0	2	56	4
MUT:NSD1:Met1628Thr	PROT:Q96L73	NSD1	M	1628	T	M1628T	Benign/Likely benign	0	1	56	86
MUT:NSD1:Met1787Val	PROT:Q96L73	NSD1	M	1787	V	M1787V	Pathogenic	1	1	56	28
MUT:NSD1:Met2250Ile	PROT:Q96L73	NSD1	M	2250	I	M2250I	Benign	0	1	56	38
MUT:NSD1:Met2261Thr	PROT:Q96L73	NSD1	M	2261	T	M2261T	Benign	0	1	56	27
MUT:NSD1:Met842Val	PROT:Q96L73	NSD1	M	842	V	M842V	Likely benign	0	1	56	5
MUT:NSD1:Phe2122Leu	PROT:Q96L73	NSD1	F	2122	L	F2122L	Likely pathogenic	1	2	56	27
MUT:NSD1:Pro1170Leu	PROT:Q96L73	NSD1	P	1170	L	P1170L	Likely benign	0	1	56	27
MUT:NSD1:Pro1523Ser	PROT:Q96L73	NSD1	P	1523	S	P1523S	Likely benign	0	1	56	13
MUT:NSD1:Pro1726Leu	PROT:Q96L73	NSD1	P	1726	L	P1726L	Likely pathogenic	1	1	56	89
MUT:NSD1:Pro1904Leu	PROT:Q96L73	NSD1	P	1904	L	P1904L	Likely pathogenic	1	1	56	33
MUT:NSD1:Pro1904Ser	PROT:Q96L73	NSD1	P	1904	S	P1904S	Likely pathogenic	1	1	56	33
MUT:NSD1:Pro2089Ser	PROT:Q96L73	NSD1	P	2089	S	P2089S	Likely benign	0	1	56	3
MUT:NSD1:Pro2153Ser	PROT:Q96L73	NSD1	P	2153	S	P2153S	Pathogenic	1	1	56	58
MUT:NSD1:Pro2349Ser	PROT:Q96L73	NSD1	P	2349	S	P2349S	Likely benign	0	1	56	15
MUT:NSD1:Pro2388Leu	PROT:Q96L73	NSD1	P	2388	L	P2388L	Benign/Likely benign	0	1	56	10
MUT:NSD1:Pro493Ala	PROT:Q96L73	NSD1	P	493	A	P493A	Benign/Likely benign	0	2	56	7
MUT:NSD1:Pro651Ser	PROT:Q96L73	NSD1	P	651	S	P651S	Likely benign	0	1	56	50
MUT:NSD1:Pro8Ser	PROT:Q96L73	NSD1	P	8	S	P8S	Likely benign	0	1	56	216
MUT:NSD1:Ser1027Ala	PROT:Q96L73	NSD1	S	1027	A	S1027A	Likely benign	0	1	56	0
MUT:NSD1:Ser1086Gly	PROT:Q96L73	NSD1	S	1086	G	S1086G	Likely benign	0	1	56	9
MUT:NSD1:Ser1241Thr	PROT:Q96L73	NSD1	S	1241	T	S1241T	Likely benign	0	1	56	2
MUT:NSD1:Ser2181Phe	PROT:Q96L73	NSD1	S	2181	F	S2181F	Likely pathogenic	1	1	56	86
MUT:NSD1:Ser2334Phe	PROT:Q96L73	NSD1	S	2334	F	S2334F	Likely benign	0	1	56	0
MUT:NSD1:Ser2342Pro	PROT:Q96L73	NSD1	S	2342	P	S2342P	Likely benign	0	1	56	8
MUT:NSD1:Ser2379Pro	PROT:Q96L73	NSD1	S	2379	P	S2379P	Likely benign	0	1	56	1
MUT:NSD1:Ser510Gly	PROT:Q96L73	NSD1	S	510	G	S510G	Likely benign	0	1	56	18
MUT:NSD1:Ser646Asn	PROT:Q96L73	NSD1	S	646	N	S646N	Likely benign	0	1	56	45
MUT:NSD1:Ser677Pro	PROT:Q96L73	NSD1	S	677	P	S677P	Benign	0	1	56	57
MUT:NSD1:Ser726Pro	PROT:Q96L73	NSD1	S	726	P	S726P	Benign	0	1	56	8
MUT:NSD1:Ser780Leu	PROT:Q96L73	NSD1	S	780	L	S780L	Benign/Likely benign	0	2	56	0
MUT:NSD1:Ser817Phe	PROT:Q96L73	NSD1	S	817	F	S817F	Benign/Likely benign	0	1	56	5
MUT:NSD1:Thr1063Ala	PROT:Q96L73	NSD1	T	1063	A	T1063A	Benign/Likely benign	0	2	56	14
MUT:NSD1:Thr1507Met	PROT:Q96L73	NSD1	T	1507	M	T1507M	Benign/Likely benign	0	1	56	0
MUT:NSD1:Thr1807Pro	PROT:Q96L73	NSD1	T	1807	P	T1807P	Likely pathogenic	1	1	56	8
MUT:NSD1:Thr2241Ile	PROT:Q96L73	NSD1	T	2241	I	T2241I	Likely benign	0	1	56	47
MUT:NSD1:Thr2356Met	PROT:Q96L73	NSD1	T	2356	M	T2356M	Likely benign	0	1	56	8
MUT:NSD1:Thr2382Ile	PROT:Q96L73	NSD1	T	2382	I	T2382I	Benign/Likely benign	0	1	56	4
MUT:NSD1:Trp1954Cys	PROT:Q96L73	NSD1	W	1954	C	W1954C	Pathogenic	1	1	56	10
MUT:NSD1:Trp2032Cys	PROT:Q96L73	NSD1	W	2032	C	W2032C	Likely pathogenic	1	1	56	20
MUT:NSD1:Tyr1615Ser	PROT:Q96L73	NSD1	Y	1615	S	Y1615S	Likely pathogenic	1	1	56	73
MUT:NSD1:Tyr1804Asn	PROT:Q96L73	NSD1	Y	1804	N	Y1804N	Likely pathogenic	1	1	56	11
MUT:NSD1:Tyr1997Cys	PROT:Q96L73	NSD1	Y	1997	C	Y1997C	Pathogenic/Likely pathogenic	1	1	56	3
MUT:NSD1:Tyr1997His	PROT:Q96L73	NSD1	Y	1997	H	Y1997H	Pathogenic	1	1	56	3
MUT:NSD1:Tyr2142His	PROT:Q96L73	NSD1	Y	2142	H	Y2142H	Pathogenic	1	1	56	47
MUT:NSD1:Val1620Ile	PROT:Q96L73	NSD1	V	1620	I	V1620I	Benign/Likely benign	0	1	56	78
MUT:NSD1:Val2618Ile	PROT:Q96L73	NSD1	V	2618	I	V2618I	Benign/Likely benign	0	1	56	2
MUT:NSD1:Val2640Met	PROT:Q96L73	NSD1	V	2640	M	V2640M	Likely benign	0	1	56	17
MUT:NSD1:Val614Leu	PROT:Q96L73	NSD1	V	614	L	V614L	Benign	0	1	56	13
MUT:NSD1:Val799Ile	PROT:Q96L73	NSD1	V	799	I	V799I	Likely benign	0	1	56	12
MUT:NSD3:Ser855Gly	PROT:Q9BZ95	NSD3	S	855	G	S855G	Benign	0	1	36	200
MUT:NSD3:Val1175Ile	PROT:Q9BZ95	NSD3	V	1175	I	V1175I	Likely benign	0	1	36	8
MUT:NSDHL:Ala105Val	PROT:Q15738	NSDHL	A	105	V	A105V	Likely pathogenic	1	1	14	1
MUT:NSDHL:Ala182Pro	PROT:Q15738	NSDHL	A	182	P	A182P	Pathogenic	1	1	14	6
MUT:NSDHL:Ala358Gly	PROT:Q15738	NSDHL	A	358	G	A358G	Benign/Likely benign	0	1	14	13
MUT:NSDHL:Arg119Lys	PROT:Q15738	NSDHL	R	119	K	R119K	Benign/Likely benign	0	1	14	7
MUT:NSDHL:Arg281Cys	PROT:Q15738	NSDHL	R	281	C	R281C	Likely benign	0	1	14	3
MUT:NSDHL:Arg367Cys	PROT:Q15738	NSDHL	R	367	C	R367C	Benign/Likely benign	0	1	14	22
MUT:NSDHL:Arg370Gln	PROT:Q15738	NSDHL	R	370	Q	R370Q	Benign	0	1	14	25
MUT:NSDHL:Asp28Gly	PROT:Q15738	NSDHL	D	28	G	D28G	Benign/Likely benign	0	1	14	3
MUT:NSDHL:Cys40Tyr	PROT:Q15738	NSDHL	C	40	Y	C40Y	Likely benign	0	1	14	9
MUT:NSDHL:Gly205Ser	PROT:Q15738	NSDHL	G	205	S	G205S	Pathogenic	1	1	14	14
MUT:NSDHL:Ile198Leu	PROT:Q15738	NSDHL	I	198	L	I198L	Benign/Likely benign	0	1	14	7
MUT:NSDHL:Leu310Met	PROT:Q15738	NSDHL	L	310	M	L310M	Likely benign	0	1	14	22
MUT:NSDHL:Leu95Val	PROT:Q15738	NSDHL	L	95	V	L95V	Benign	0	1	14	1
MUT:NSDHL:Lys38Arg	PROT:Q15738	NSDHL	K	38	R	K38R	Likely benign	0	2	14	7
MUT:NSDHL:Met9Val	PROT:Q15738	NSDHL	M	9	V	M9V	Benign/Likely benign	0	6	14	10
MUT:NSDHL:Ser106Leu	PROT:Q15738	NSDHL	S	106	L	S106L	Likely pathogenic	1	1	14	0
MUT:NSDHL:Trp298Leu	PROT:Q15738	NSDHL	W	298	L	W298L	Likely benign	0	1	14	10
MUT:NSDHL:Tyr349Cys	PROT:Q15738	NSDHL	Y	349	C	Y349C	Likely pathogenic	1	1	14	4
MUT:NSDHL:Val227Met	PROT:Q15738	NSDHL	V	227	M	V227M	Likely benign	0	1	14	36
MUT:NSDHL:Val363Met	PROT:Q15738	NSDHL	V	363	M	V363M	Benign/Likely benign	0	2	14	18
MUT:NSDHL:Val78Ala	PROT:Q15738	NSDHL	V	78	A	V78A	Benign	0	1	14	9
MUT:NSMF:Glu95Asp	PROT:Q6X4W1	NSMF	E	95	D	E95D	Likely benign	0	1	1	109
MUT:NSUN3:Ala141Pro	PROT:Q9H649	NSUN3	A	141	P	A141P	Pathogenic	1	1	7	21
MUT:NSUN3:Cys152Ser	PROT:Q9H649	NSUN3	C	152	S	C152S	Pathogenic	1	1	7	32
MUT:NSUN3:Gly284Ser	PROT:Q9H649	NSUN3	G	284	S	G284S	Likely benign	0	1	7	35
MUT:NSUN3:Ile147Val	PROT:Q9H649	NSUN3	I	147	V	I147V	Likely benign	0	1	7	27
MUT:NSUN3:Met289Val	PROT:Q9H649	NSUN3	M	289	V	M289V	Likely benign	0	1	7	30
MUT:NT5C2:Gln136Arg	PROT:P49902	NT5C2	Q	136	R	Q136R	Likely benign	0	1	17	81
MUT:NT5C2:His486Asn	PROT:P49902	NT5C2	H	486	N	H486N	Likely pathogenic	1	1	17	16
MUT:NT5C2:Leu468Pro	PROT:P49902	NT5C2	L	468	P	L468P	Pathogenic	1	1	17	34
MUT:NT5C2:Phe369Ser	PROT:P49902	NT5C2	F	369	S	F369S	Likely pathogenic	1	1	17	10
MUT:NT5C2:Thr3Ala	PROT:P49902	NT5C2	T	3	A	T3A	Benign	0	1	17	18
MUT:NT5C2:Val219Ala	PROT:P49902	NT5C2	V	219	A	V219A	Likely benign	0	2	17	2
MUT:NT5C3A:Asn224Ser	PROT:Q9H0P0	NT5C3A	N	224	S	N224S	Pathogenic	1	1	4	1
MUT:NT5C3A:Asp132Val	PROT:Q9H0P0	NT5C3A	D	132	V	D132V	Pathogenic/Likely pathogenic	1	1	4	93
MUT:NT5C3A:Gly275Arg	PROT:Q9H0P0	NT5C3A	G	275	R	G275R	Pathogenic	1	1	4	3
MUT:NT5C3A:Phe31Leu	PROT:Q9H0P0	NT5C3A	F	31	L	F31L	Benign/Likely benign	0	1	4	194
MUT:NT5E:Ala26Ser	PROT:P21589	NT5E	A	26	S	A26S	Likely benign	0	1	2	107
MUT:NT5E:Asn403His	PROT:P21589	NT5E	N	403	H	N403H	Likely benign	0	1	2	141
MUT:NT5E:Cys358Tyr	PROT:P21589	NT5E	C	358	Y	C358Y	Pathogenic	1	1	2	96
MUT:NT5E:Gln153Glu	PROT:P21589	NT5E	Q	153	E	Q153E	Benign	0	1	2	20
MUT:NT5E:Glu491Lys	PROT:P21589	NT5E	E	491	K	E491K	Likely benign	0	1	2	229
MUT:NT5E:Met58Val	PROT:P21589	NT5E	M	58	V	M58V	Likely benign	0	1	2	75
MUT:NT5E:Thr376Ala	PROT:P21589	NT5E	T	376	A	T376A	Benign	0	1	2	114
MUT:NTM:Ser335Leu	PROT:Q9P121	NTM	S	335	L	S335L	Likely benign	0	1	2	136
MUT:NTM:Val313Met	PROT:Q9P121	NTM	V	313	M	V313M	Likely benign	0	1	2	114
MUT:NTRK2:Ala203Thr	PROT:Q16620	NTRK2	A	203	T	A203T	Likely benign	0	1	16	53
MUT:NTRK2:Arg551Gln	PROT:Q16620	NTRK2	R	551	Q	R551Q	Likely pathogenic	1	2	16	7
MUT:NTRK2:Leu140Phe	PROT:Q16620	NTRK2	L	140	F	L140F	Likely benign	0	1	16	1
MUT:NTRK2:Lys160Arg	PROT:Q16620	NTRK2	K	160	R	K160R	Likely benign	0	1	16	19
MUT:NTRK2:Pro204His	PROT:Q16620	NTRK2	P	204	H	P204H	Benign	0	1	16	52
MUT:NTRK2:Pro660Leu	PROT:Q16620	NTRK2	P	660	L	P660L	Benign/Likely benign	0	1	16	38
MUT:NTRK2:Ser167Tyr	PROT:Q16620	NTRK2	S	167	Y	S167Y	Likely benign	0	1	16	26
MUT:NTRK2:Thr411Met	PROT:Q16620	NTRK2	T	411	M	T411M	Likely benign	0	1	16	23
MUT:NTRK2:Thr720Ile	PROT:Q16620	NTRK2	T	720	I	T720I	Pathogenic	1	1	16	2
MUT:NTRK2:Tyr434Cys	PROT:Q16620	NTRK2	Y	434	C	Y434C	Pathogenic/Likely pathogenic	1	1	16	0
MUT:NTRK2:Tyr722Cys	PROT:Q16620	NTRK2	Y	722	C	Y722C	Pathogenic	1	1	16	0
MUT:NUBPL:Ile101Val	PROT:Q8TB37	NUBPL	I	101	V	I101V	Likely benign	0	1	1	8
MUT:NUBPL:Leu104Pro	PROT:Q8TB37	NUBPL	L	104	P	L104P	Pathogenic/Likely pathogenic	1	2	1	5
MUT:NUBPL:Leu193Phe	PROT:Q8TB37	NUBPL	L	193	F	L193F	Pathogenic	1	1	1	84
MUT:NUBPL:Met117Ile	PROT:Q8TB37	NUBPL	M	117	I	M117I	Pathogenic	1	1	1	8
MUT:NUBPL:Phe242Leu	PROT:Q8TB37	NUBPL	F	242	L	F242L	Pathogenic	1	1	1	133
MUT:NUP133:Ala199Thr	PROT:Q8WUM0	NUP133	A	199	T	A199T	Benign	0	1	38	59
MUT:NUP133:Ala667Thr	PROT:Q8WUM0	NUP133	A	667	T	A667T	Benign	0	1	38	7
MUT:NUP133:Arg231Gly	PROT:Q8WUM0	NUP133	R	231	G	R231G	Likely pathogenic	1	1	38	27
MUT:NUP133:Arg314Lys	PROT:Q8WUM0	NUP133	R	314	K	R314K	Benign/Likely benign	0	1	38	3
MUT:NUP133:Arg61Gln	PROT:Q8WUM0	NUP133	R	61	Q	R61Q	Likely benign	0	2	38	21
MUT:NUP133:Arg962His	PROT:Q8WUM0	NUP133	R	962	H	R962H	Benign	0	1	38	6
MUT:NUP133:Gly854Asp	PROT:Q8WUM0	NUP133	G	854	D	G854D	Likely benign	0	1	38	12
MUT:NUP133:Phe200Ser	PROT:Q8WUM0	NUP133	F	200	S	F200S	Benign	0	1	38	58
MUT:NUP133:Ser399Phe	PROT:Q8WUM0	NUP133	S	399	F	S399F	Likely benign	0	1	38	64
MUT:NUP133:Ser974Arg	PROT:Q8WUM0	NUP133	S	974	R	S974R	Likely pathogenic	1	1	38	0
MUT:NUP153:Asn1220Ser	PROT:P49790	NUP153	N	1220	S	N1220S	Likely benign	0	1	115	52
MUT:NUP205:Ala1623Ser	PROT:Q92621	NUP205	A	1623	S	A1623S	Likely benign	0	3	32	58
MUT:NUP205:Asn1184Ser	PROT:Q92621	NUP205	N	1184	S	N1184S	Likely benign	0	1	32	7
MUT:NUP205:Glu1356Gln	PROT:Q92621	NUP205	E	1356	Q	E1356Q	Benign	0	1	32	77
MUT:NUP205:Ile1314Thr	PROT:Q92621	NUP205	I	1314	T	I1314T	Likely benign	0	1	32	35
MUT:NUP205:Leu1110Pro	PROT:Q92621	NUP205	L	1110	P	L1110P	Likely pathogenic	1	1	32	55
MUT:NUP205:Met373Ile	PROT:Q92621	NUP205	M	373	I	M373I	Benign	0	16	32	45
MUT:NUP205:Phe1600Tyr	PROT:Q92621	NUP205	F	1600	Y	F1600Y	Likely benign	0	1	32	35
MUT:NUP205:Phe1995Ser	PROT:Q92621	NUP205	F	1995	S	F1995S	Pathogenic	1	1	32	7
MUT:NUP205:Pro4Leu	PROT:Q92621	NUP205	P	4	L	P4L	Benign/Likely benign	0	1	32	37
MUT:NUP205:Ser1771Ile	PROT:Q92621	NUP205	S	1771	I	S1771I	Likely benign	0	1	32	28
MUT:NUP205:Tyr1428Cys	PROT:Q92621	NUP205	Y	1428	C	Y1428C	Likely benign	0	1	32	18
MUT:NUP210:Arg364His	PROT:Q8TEM1	NUP210	R	364	H	R364H	Likely benign	0	1	23	15
MUT:NUP210:His867Tyr	PROT:Q8TEM1	NUP210	H	867	Y	H867Y	Likely benign	0	1	23	1
MUT:NUP210:Pro733Thr	PROT:Q8TEM1	NUP210	P	733	T	P733T	Likely benign	0	1	23	41
MUT:NUP210:Val1717Ile	PROT:Q8TEM1	NUP210	V	1717	I	V1717I	Likely benign	0	1	23	7
MUT:NUP214:Arg38Cys	PROT:P35658	NUP214	R	38	C	R38C	Pathogenic/Likely pathogenic	1	1	64	2
MUT:NUP214:Gly1592Ala	PROT:P35658	NUP214	G	1592	A	G1592A	Benign	0	2	64	236
MUT:NUP214:Ile310Thr	PROT:P35658	NUP214	I	310	T	I310T	Likely pathogenic	1	1	64	5
MUT:NUP214:Ile336Phe	PROT:P35658	NUP214	I	336	F	I336F	Likely benign	0	1	64	31
MUT:NUP214:Ile765Val	PROT:P35658	NUP214	I	765	V	I765V	Benign	0	8	64	4
MUT:NUP214:Pro387Ser	PROT:P35658	NUP214	P	387	S	P387S	Likely pathogenic	1	1	64	34
MUT:NUP214:Pro532Leu	PROT:P35658	NUP214	P	532	L	P532L	Likely benign	0	1	64	1
MUT:NUP214:Pro574Ser	PROT:P35658	NUP214	P	574	S	P574S	Benign	0	1	64	7
MUT:NUP214:Ser1307Thr	PROT:P35658	NUP214	S	1307	T	S1307T	Benign	0	1	64	5
MUT:NUP62:Gln391Pro	PROT:P37198	NUP62	Q	391	P	Q391P	Likely pathogenic	1	2	13	17
MUT:NUP62:Thr165Met	PROT:P37198	NUP62	T	165	M	T165M	Likely benign	0	1	13	104
MUT:NUP93:Ala334Thr	PROT:Q8N1F7	NUP93	A	334	T	A334T	Likely benign	0	1	36	15
MUT:NUP93:Arg578Pro	PROT:Q8N1F7	NUP93	R	578	P	R578P	Likely pathogenic	1	1	36	8
MUT:NUP93:Arg781His	PROT:Q8N1F7	NUP93	R	781	H	R781H	Likely benign	0	1	36	9
MUT:NUP93:Gln264Glu	PROT:Q8N1F7	NUP93	Q	264	E	Q264E	Likely benign	0	2	36	74
MUT:NUP93:Gly591Val	PROT:Q8N1F7	NUP93	G	591	V	G591V	Pathogenic/Likely pathogenic	1	4	36	1
MUT:NUP93:Ile583Met	PROT:Q8N1F7	NUP93	I	583	M	I583M	Benign/Likely benign	0	2	36	3
MUT:NUP93:Lys633Gln	PROT:Q8N1F7	NUP93	K	633	Q	K633Q	Benign	0	1	36	0
MUT:NUP93:Lys637Glu	PROT:Q8N1F7	NUP93	K	637	E	K637E	Likely pathogenic	1	1	36	0
MUT:NUP93:Thr791Ala	PROT:Q8N1F7	NUP93	T	791	A	T791A	Likely benign	0	1	36	19
MUT:NUP93:Tyr192Cys	PROT:Q8N1F7	NUP93	Y	192	C	Y192C	Likely pathogenic	1	1	36	2
MUT:NUP93:Tyr629Cys	PROT:Q8N1F7	NUP93	Y	629	C	Y629C	Pathogenic/Likely pathogenic	1	2	36	2
MUT:NUP93:Val570Glu	PROT:Q8N1F7	NUP93	V	570	E	V570E	Likely pathogenic	1	1	36	16
MUT:NXF3:Thr9Met	PROT:Q9H4D5	NXF3	T	9	M	T9M	Likely benign	0	1	1	115
MUT:NXPE3:Gly319Ala	PROT:Q969Y0	NXPE3	G	319	A	G319A	Benign	0	1	2	4
MUT:ODAD1:Ala285Thr	PROT:Q96M63	ODAD1	A	285	T	A285T	Pathogenic/Likely pathogenic	1	6	1	232
MUT:ODAD1:Ala367Thr	PROT:Q96M63	ODAD1	A	367	T	A367T	Likely benign	0	1	1	150
MUT:ODAD1:Ala536Ser	PROT:Q96M63	ODAD1	A	536	S	A536S	Benign	0	1	1	19
MUT:ODAD1:Ala544Thr	PROT:Q96M63	ODAD1	A	544	T	A544T	Benign/Likely benign	0	2	1	27
MUT:ODAD1:Ala546Thr	PROT:Q96M63	ODAD1	A	546	T	A546T	Benign/Likely benign	0	2	1	29
MUT:ODAD1:Ala558Thr	PROT:Q96M63	ODAD1	A	558	T	A558T	Benign/Likely benign	0	2	1	41
MUT:ODAD1:Ala643Ser	PROT:Q96M63	ODAD1	A	643	S	A643S	Likely benign	0	1	1	126
MUT:ODAD1:Arg189Cys	PROT:Q96M63	ODAD1	R	189	C	R189C	Benign/Likely benign	0	1	1	328
MUT:ODAD1:Arg366His	PROT:Q96M63	ODAD1	R	366	H	R366H	Benign	0	1	1	151
MUT:ODAD1:Arg405Gln	PROT:Q96M63	ODAD1	R	405	Q	R405Q	Benign	0	2	1	112
MUT:ODAD1:Arg538His	PROT:Q96M63	ODAD1	R	538	H	R538H	Likely benign	0	1	1	21
MUT:ODAD1:Arg62His	PROT:Q96M63	ODAD1	R	62	H	R62H	Benign	0	2	1	455
MUT:ODAD1:Arg706Gln	PROT:Q96M63	ODAD1	R	706	Q	R706Q	Likely benign	0	1	1	189
MUT:ODAD1:Arg83Trp	PROT:Q96M63	ODAD1	R	83	W	R83W	Benign/Likely benign	0	2	1	434
MUT:ODAD1:Arg89Pro	PROT:Q96M63	ODAD1	R	89	P	R89P	Benign	0	2	1	428
MUT:ODAD1:Arg95His	PROT:Q96M63	ODAD1	R	95	H	R95H	Likely benign	0	1	1	422
MUT:ODAD1:Asp186Tyr	PROT:Q96M63	ODAD1	D	186	Y	D186Y	Likely benign	0	2	1	331
MUT:ODAD1:Asp270Asn	PROT:Q96M63	ODAD1	D	270	N	D270N	Benign	0	2	1	247
MUT:ODAD1:Asp425Asn	PROT:Q96M63	ODAD1	D	425	N	D425N	Likely benign	0	1	1	92
MUT:ODAD1:Glu108Lys	PROT:Q96M63	ODAD1	E	108	K	E108K	Likely benign	0	1	1	409
MUT:ODAD1:Glu109Lys	PROT:Q96M63	ODAD1	E	109	K	E109K	Likely benign	0	1	1	408
MUT:ODAD1:Glu13Gly	PROT:Q96M63	ODAD1	E	13	G	E13G	Likely benign	0	1	1	504
MUT:ODAD1:Glu244Lys	PROT:Q96M63	ODAD1	E	244	K	E244K	Benign/Likely benign	0	1	1	273
MUT:ODAD1:Gly286Arg	PROT:Q96M63	ODAD1	G	286	R	G286R	Benign/Likely benign	0	1	1	231
MUT:ODAD1:Gly440Arg	PROT:Q96M63	ODAD1	G	440	R	G440R	Likely benign	0	1	1	77
MUT:ODAD1:Gly564Ser	PROT:Q96M63	ODAD1	G	564	S	G564S	Likely benign	0	1	1	47
MUT:ODAD1:His262Arg	PROT:Q96M63	ODAD1	H	262	R	H262R	Likely benign	0	1	1	255
MUT:ODAD1:Lys421Arg	PROT:Q96M63	ODAD1	K	421	R	K421R	Likely benign	0	1	1	96
MUT:ODAD1:Pro505Leu	PROT:Q96M63	ODAD1	P	505	L	P505L	Benign	0	1	1	12
MUT:ODAD1:Ser675Leu	PROT:Q96M63	ODAD1	S	675	L	S675L	Benign	0	1	1	158
MUT:ODAD1:Ser676Asn	PROT:Q96M63	ODAD1	S	676	N	S676N	Benign	0	2	1	159
MUT:ODAD1:Val193Met	PROT:Q96M63	ODAD1	V	193	M	V193M	Likely benign	0	1	1	324
MUT:ODAD1:Val292Ile	PROT:Q96M63	ODAD1	V	292	I	V292I	Likely benign	0	1	1	225
MUT:ODAD1:Val382Glu	PROT:Q96M63	ODAD1	V	382	E	V382E	Likely benign	0	1	1	135
MUT:ODAD1:Val568Ile	PROT:Q96M63	ODAD1	V	568	I	V568I	Benign/Likely benign	0	1	1	51
MUT:ODAD2:Ala1041Ser	PROT:Q5T2S8	ODAD2	A	1041	S	A1041S	Benign	0	2	8	1
MUT:ODAD2:Ala858Thr	PROT:Q5T2S8	ODAD2	A	858	T	A858T	Likely benign	0	2	8	71
MUT:ODAD2:Arg244His	PROT:Q5T2S8	ODAD2	R	244	H	R244H	Likely benign	0	1	8	212
MUT:ODAD2:Arg349Ser	PROT:Q5T2S8	ODAD2	R	349	S	R349S	Likely benign	0	2	8	107
MUT:ODAD2:Arg413Gln	PROT:Q5T2S8	ODAD2	R	413	Q	R413Q	Benign	0	2	8	43
MUT:ODAD2:Arg413Gly	PROT:Q5T2S8	ODAD2	R	413	G	R413G	Benign	0	2	8	43
MUT:ODAD2:Arg413Trp	PROT:Q5T2S8	ODAD2	R	413	W	R413W	Likely benign	0	1	8	43
MUT:ODAD2:Arg666Gln	PROT:Q5T2S8	ODAD2	R	666	Q	R666Q	Benign	0	2	8	51
MUT:ODAD2:Arg666Pro	PROT:Q5T2S8	ODAD2	R	666	P	R666P	Benign/Likely benign	0	3	8	51
MUT:ODAD2:Arg787Cys	PROT:Q5T2S8	ODAD2	R	787	C	R787C	Benign	0	2	8	36
MUT:ODAD2:Asn935Lys	PROT:Q5T2S8	ODAD2	N	935	K	N935K	Benign	0	2	8	6
MUT:ODAD2:Asp161Gly	PROT:Q5T2S8	ODAD2	D	161	G	D161G	Likely benign	0	1	8	295
MUT:ODAD2:Asp204Glu	PROT:Q5T2S8	ODAD2	D	204	E	D204E	Benign/Likely benign	0	2	8	252
MUT:ODAD2:Asp425Tyr	PROT:Q5T2S8	ODAD2	D	425	Y	D425Y	Benign	0	2	8	31
MUT:ODAD2:Asp995Asn	PROT:Q5T2S8	ODAD2	D	995	N	D995N	Benign/Likely benign	0	3	8	22
MUT:ODAD2:Gln410Glu	PROT:Q5T2S8	ODAD2	Q	410	E	Q410E	Likely benign	0	3	8	46
MUT:ODAD2:Gln487Leu	PROT:Q5T2S8	ODAD2	Q	487	L	Q487L	Likely benign	0	2	8	31
MUT:ODAD2:Glu434Asp	PROT:Q5T2S8	ODAD2	E	434	D	E434D	Likely benign	0	1	8	22
MUT:ODAD2:Glu69Gln	PROT:Q5T2S8	ODAD2	E	69	Q	E69Q	Benign/Likely benign	0	2	8	387
MUT:ODAD2:Gly922Glu	PROT:Q5T2S8	ODAD2	G	922	E	G922E	Likely pathogenic	1	1	8	7
MUT:ODAD2:Ile343Thr	PROT:Q5T2S8	ODAD2	I	343	T	I343T	Benign	0	2	8	113
MUT:ODAD2:Leu178Phe	PROT:Q5T2S8	ODAD2	L	178	F	L178F	Likely benign	0	2	8	278
MUT:ODAD2:Leu927Trp	PROT:Q5T2S8	ODAD2	L	927	W	L927W	Pathogenic/Likely pathogenic	1	2	8	2
MUT:ODAD2:Lys332Arg	PROT:Q5T2S8	ODAD2	K	332	R	K332R	Benign/Likely benign	0	2	8	124
MUT:ODAD2:Lys552Gln	PROT:Q5T2S8	ODAD2	K	552	Q	K552Q	Benign/Likely benign	0	2	8	33
MUT:ODAD2:Lys867Glu	PROT:Q5T2S8	ODAD2	K	867	E	K867E	Likely benign	0	1	8	62
MUT:ODAD2:Pro769His	PROT:Q5T2S8	ODAD2	P	769	H	P769H	Likely benign	0	2	8	18
MUT:ODAD2:Ser191Pro	PROT:Q5T2S8	ODAD2	S	191	P	S191P	Likely benign	0	1	8	265
MUT:ODAD2:Ser195Cys	PROT:Q5T2S8	ODAD2	S	195	C	S195C	Likely benign	0	3	8	261
MUT:ODAD2:Ser403Thr	PROT:Q5T2S8	ODAD2	S	403	T	S403T	Likely benign	0	3	8	53
MUT:ODAD2:Ser444Asn	PROT:Q5T2S8	ODAD2	S	444	N	S444N	Likely benign	0	1	8	12
MUT:ODC1:Ala20Thr	PROT:P11926	ODC1	A	20	T	A20T	Likely benign	0	1	5	37
MUT:ODC1:Ala452Thr	PROT:P11926	ODC1	A	452	T	A452T	Likely benign	0	1	5	149
MUT:ODC1:Arg178Lys	PROT:P11926	ODC1	R	178	K	R178K	Likely benign	0	1	5	63
MUT:ODC1:Arg365Leu	PROT:P11926	ODC1	R	365	L	R365L	Likely benign	0	1	5	62
MUT:ODC1:Arg449Cys	PROT:P11926	ODC1	R	449	C	R449C	Likely benign	0	1	5	146
MUT:ODC1:Asn3Thr	PROT:P11926	ODC1	N	3	T	N3T	Likely benign	0	1	5	54
MUT:ODC1:Cys217Gly	PROT:P11926	ODC1	C	217	G	C217G	Likely benign	0	1	5	86
MUT:ODC1:Gln129Arg	PROT:P11926	ODC1	Q	129	R	Q129R	Likely benign	0	1	5	14
MUT:ODC1:Gly253Arg	PROT:P11926	ODC1	G	253	R	G253R	Benign/Likely benign	0	2	5	50
MUT:ODC1:Gly84Arg	PROT:P11926	ODC1	G	84	R	G84R	Likely benign	0	2	5	6
MUT:ODC1:Ile189Thr	PROT:P11926	ODC1	I	189	T	I189T	Likely benign	0	1	5	74
MUT:ODC1:Met381Ile	PROT:P11926	ODC1	M	381	I	M381I	Likely benign	0	1	5	78
MUT:ODC1:Ser309Leu	PROT:P11926	ODC1	S	309	L	S309L	Likely benign	0	1	5	6
MUT:ODC1:Ser32Phe	PROT:P11926	ODC1	S	32	F	S32F	Likely benign	0	1	5	25
MUT:ODC1:Ser33Phe	PROT:P11926	ODC1	S	33	F	S33F	Likely benign	0	1	5	24
MUT:ODC1:Thr157Ala	PROT:P11926	ODC1	T	157	A	T157A	Likely benign	0	1	5	42
MUT:ODC1:Thr173Met	PROT:P11926	ODC1	T	173	M	T173M	Likely benign	0	1	5	58
MUT:ODC1:Val225Ala	PROT:P11926	ODC1	V	225	A	V225A	Likely benign	0	1	5	78
MUT:ODC1:Val296Glu	PROT:P11926	ODC1	V	296	E	V296E	Likely benign	0	1	5	7
MUT:ODC1:Val77Met	PROT:P11926	ODC1	V	77	M	V77M	Likely benign	0	1	5	1
MUT:OGDHL:Ala630Val	PROT:Q9ULD0	OGDHL	A	630	V	A630V	Benign	0	1	10	39
MUT:OGDHL:Ala877Ser	PROT:Q9ULD0	OGDHL	A	877	S	A877S	Likely benign	0	1	10	20
MUT:OGDHL:Ala940Thr	PROT:Q9ULD0	OGDHL	A	940	T	A940T	Likely benign	0	1	10	83
MUT:OGDHL:Arg299Gly	PROT:Q9ULD0	OGDHL	R	299	G	R299G	Likely pathogenic	1	1	10	55
MUT:OGDHL:Arg673Gln	PROT:Q9ULD0	OGDHL	R	673	Q	R673Q	Pathogenic	1	1	10	2
MUT:OGDHL:Arg89Gln	PROT:Q9ULD0	OGDHL	R	89	Q	R89Q	Likely benign	0	1	10	95
MUT:OGDHL:Lys44Arg	PROT:Q9ULD0	OGDHL	K	44	R	K44R	Likely benign	0	1	10	140
MUT:OGDHL:Met296Leu	PROT:Q9ULD0	OGDHL	M	296	L	M296L	Likely benign	0	3	10	58
MUT:OGDHL:Phe734Ser	PROT:Q9ULD0	OGDHL	F	734	S	F734S	Likely benign	0	2	10	63
MUT:OGDHL:Ser623Cys	PROT:Q9ULD0	OGDHL	S	623	C	S623C	Benign/Likely benign	0	1	10	46
MUT:OGDHL:Ser778Leu	PROT:Q9ULD0	OGDHL	S	778	L	S778L	Likely pathogenic	1	2	10	66
MUT:OGDHL:Thr637Met	PROT:Q9ULD0	OGDHL	T	637	M	T637M	Benign	0	1	10	32
MUT:OGG1:Gly308Glu	PROT:O15527	OGG1	G	308	E	G308E	Likely benign	0	1	8	11
MUT:OGG1:Gly348Glu	PROT:O15527	OGG1	G	348	E	G348E	Likely benign	0	1	8	7
MUT:OGG1:Leu359Phe	PROT:O15527	OGG1	L	359	F	L359F	Likely benign	0	1	8	18
MUT:OGG1:Ser326Cys	PROT:O15527	OGG1	S	326	C	S326C	Benign	0	1	8	0
MUT:OGT:Arg284Pro	PROT:O15294	OGT	R	284	P	R284P	Pathogenic	1	1	21	48
MUT:OGT:Asn648Tyr	PROT:O15294	OGT	N	648	Y	N648Y	Pathogenic	1	1	21	4
MUT:OGT:Glu339Gly	PROT:O15294	OGT	E	339	G	E339G	Pathogenic	1	1	21	13
MUT:OGT:Leu254Phe	PROT:O15294	OGT	L	254	F	L254F	Pathogenic	1	1	21	18
MUT:OGT:Met1Val	PROT:O15294	OGT	M	1	V	M1V	Pathogenic	1	1	21	99
MUT:OGT:Ser510Asn	PROT:O15294	OGT	S	510	N	S510N	Likely pathogenic	1	1	21	24
MUT:OGT:Ser571Pro	PROT:O15294	OGT	S	571	P	S571P	Likely pathogenic	1	1	21	21
MUT:OGT:Thr404Ile	PROT:O15294	OGT	T	404	I	T404I	Likely pathogenic	1	1	21	52
MUT:OGT:Thr932Ile	PROT:O15294	OGT	T	932	I	T932I	Likely pathogenic	1	1	21	24
MUT:OLFML2A:Ala365Thr	PROT:Q68BL7	OLFML2A	A	365	T	A365T	Likely benign	0	1	1	31
MUT:OMA1:Asp365Tyr	PROT:Q96E52	OMA1	D	365	Y	D365Y	Likely benign	0	11	3	135
MUT:OMA1:Ile294Val	PROT:Q96E52	OMA1	I	294	V	I294V	Benign	0	9	3	64
MUT:OMG:Gly21Asp	PROT:P23515	OMG	G	21	D	G21D	Benign	0	1	1	111
MUT:OMG:Val435Ala	PROT:P23515	OMG	V	435	A	V435A	Likely benign	0	1	1	303
MUT:OPRM1:Cys192Phe	PROT:P35372	OPRM1	C	192	F	C192F	Likely benign	0	1	8	24
MUT:OPRM1:Ser147Cys	PROT:P35372	OPRM1	S	147	C	S147C	Benign	0	1	8	21
MUT:OPTN:Asn286Lys	PROT:Q96CV9	OPTN	N	286	K	N286K	Likely benign	0	1	23	47
MUT:OPTN:Asn303Lys	PROT:Q96CV9	OPTN	N	303	K	N303K	Likely benign	0	1	23	30
MUT:OPTN:Gln467Pro	PROT:Q96CV9	OPTN	Q	467	P	Q467P	Likely pathogenic	1	1	23	6
MUT:OPTN:Glu478Gly	PROT:Q96CV9	OPTN	E	478	G	E478G	Pathogenic	1	1	23	5
MUT:OPTN:Glu50Lys	PROT:Q96CV9	OPTN	E	50	K	E50K	Pathogenic	1	1	23	41
MUT:OPTN:Met98Lys	PROT:Q96CV9	OPTN	M	98	K	M98K	Benign/Likely benign	0	4	23	3
MUT:ORC1:Ala372Val	PROT:Q13415	ORC1	A	372	V	A372V	Benign	0	1	36	2
MUT:ORC1:Arg105Gln	PROT:Q13415	ORC1	R	105	Q	R105Q	Pathogenic/Likely pathogenic	1	3	36	6
MUT:ORC1:Arg105Trp	PROT:Q13415	ORC1	R	105	W	R105W	Likely pathogenic	1	1	36	6
MUT:ORC1:Arg19Ser	PROT:Q13415	ORC1	R	19	S	R19S	Benign/Likely benign	0	2	36	6
MUT:ORC1:Arg222Cys	PROT:Q13415	ORC1	R	222	C	R222C	Likely benign	0	1	36	12
MUT:ORC1:Arg24Gln	PROT:Q13415	ORC1	R	24	Q	R24Q	Likely benign	0	1	36	1
MUT:ORC1:Arg331Lys	PROT:Q13415	ORC1	R	331	K	R331K	Likely benign	0	1	36	6
MUT:ORC1:Arg396Trp	PROT:Q13415	ORC1	R	396	W	R396W	Benign/Likely benign	0	1	36	9
MUT:ORC1:Arg608Gln	PROT:Q13415	ORC1	R	608	Q	R608Q	Likely benign	0	1	36	2
MUT:ORC1:Arg720Gln	PROT:Q13415	ORC1	R	720	Q	R720Q	Likely pathogenic	1	2	36	110
MUT:ORC1:Cys469Tyr	PROT:Q13415	ORC1	C	469	Y	C469Y	Benign	0	1	36	7
MUT:ORC1:Gln180His	PROT:Q13415	ORC1	Q	180	H	Q180H	Benign	0	1	36	2
MUT:ORC1:Gln582Arg	PROT:Q13415	ORC1	Q	582	R	Q582R	Benign/Likely benign	0	2	36	4
MUT:ORC1:Glu127Gly	PROT:Q13415	ORC1	E	127	G	E127G	Pathogenic	1	1	36	28
MUT:ORC1:Glu73Lys	PROT:Q13415	ORC1	E	73	K	E73K	Pathogenic	1	1	36	8
MUT:ORC1:Leu622Pro	PROT:Q13415	ORC1	L	622	P	L622P	Pathogenic	1	1	36	12
MUT:ORC1:Met816Thr	PROT:Q13415	ORC1	M	816	T	M816T	Benign	0	1	36	34
MUT:ORC1:Ser269Leu	PROT:Q13415	ORC1	S	269	L	S269L	Benign/Likely benign	0	2	36	0
MUT:ORC1:Thr466Met	PROT:Q13415	ORC1	T	466	M	T466M	Benign	0	1	36	10
MUT:ORC1:Val144Ile	PROT:Q13415	ORC1	V	144	I	V144I	Likely benign	0	1	36	34
MUT:ORC1:Val190Met	PROT:Q13415	ORC1	V	190	M	V190M	Benign	0	1	36	5
MUT:ORC1:Val457Met	PROT:Q13415	ORC1	V	457	M	V457M	Likely benign	0	1	36	1
MUT:ORC1:Val772Ile	PROT:Q13415	ORC1	V	772	I	V772I	Benign/Likely benign	0	2	36	78
MUT:ORC3:Val216Asp	PROT:Q9UBD5	ORC3	V	216	D	V216D	Likely pathogenic	1	1	14	8
MUT:ORC4:Asn78Ser	PROT:O43929	ORC4	N	78	S	N78S	Benign	0	1	7	43
MUT:ORC4:His319Arg	PROT:O43929	ORC4	H	319	R	H319R	Likely pathogenic	1	1	7	41
MUT:ORC4:Met1Val	PROT:O43929	ORC4	M	1	V	M1V	Pathogenic	1	1	7	7
MUT:ORC4:Tyr174Cys	PROT:O43929	ORC4	Y	174	C	Y174C	Pathogenic/Likely pathogenic	1	1	7	57
MUT:ORC4:Val300Ile	PROT:O43929	ORC4	V	300	I	V300I	Likely benign	0	1	7	57
MUT:OSBP:Ala62Ser	PROT:P22059	OSBP	A	62	S	A62S	Likely benign	0	1	25	35
MUT:OTC:Ala135Pro	PROT:P00480	OTC	A	135	P	A135P	Likely pathogenic	1	1	20	2
MUT:OTC:Ala135Thr	PROT:P00480	OTC	A	135	T	A135T	Likely benign	0	1	20	2
MUT:OTC:Ala140Pro	PROT:P00480	OTC	A	140	P	A140P	Likely pathogenic	1	1	20	4
MUT:OTC:Ala208Thr	PROT:P00480	OTC	A	208	T	A208T	Pathogenic	1	2	20	13
MUT:OTC:Ala209Glu	PROT:P00480	OTC	A	209	E	A209E	Pathogenic	1	1	20	12
MUT:OTC:Ala209Val	PROT:P00480	OTC	A	209	V	A209V	Pathogenic	1	1	20	12
MUT:OTC:Ala218Pro	PROT:P00480	OTC	A	218	P	A218P	Pathogenic	1	1	20	3
MUT:OTC:Ala233Val	PROT:P00480	OTC	A	233	V	A233V	Likely pathogenic	1	1	20	2
MUT:OTC:Ala253Glu	PROT:P00480	OTC	A	253	E	A253E	Likely pathogenic	1	1	20	15
MUT:OTC:Arg129His	PROT:P00480	OTC	R	129	H	R129H	Pathogenic	1	2	20	3
MUT:OTC:Arg129Leu	PROT:P00480	OTC	R	129	L	R129L	Pathogenic	1	1	20	3
MUT:OTC:Arg141Gln	PROT:P00480	OTC	R	141	Q	R141Q	Pathogenic	1	1	20	3
MUT:OTC:Arg141Pro	PROT:P00480	OTC	R	141	P	R141P	Likely pathogenic	1	1	20	3
MUT:OTC:Arg26Gln	PROT:P00480	OTC	R	26	Q	R26Q	Pathogenic/Likely pathogenic	1	1	20	20
MUT:OTC:Arg26Leu	PROT:P00480	OTC	R	26	L	R26L	Likely pathogenic	1	1	20	20
MUT:OTC:Arg277Gln	PROT:P00480	OTC	R	277	Q	R277Q	Pathogenic	1	1	20	1
MUT:OTC:Arg277Leu	PROT:P00480	OTC	R	277	L	R277L	Likely pathogenic	1	1	20	1
MUT:OTC:Arg277Trp	PROT:P00480	OTC	R	277	W	R277W	Pathogenic	1	1	20	1
MUT:OTC:Arg320Leu	PROT:P00480	OTC	R	320	L	R320L	Pathogenic	1	1	20	3
MUT:OTC:Arg320Pro	PROT:P00480	OTC	R	320	P	R320P	Pathogenic	1	1	20	3
MUT:OTC:Arg330Gly	PROT:P00480	OTC	R	330	G	R330G	Pathogenic/Likely pathogenic	1	1	20	13
MUT:OTC:Arg40Cys	PROT:P00480	OTC	R	40	C	R40C	Pathogenic/Likely pathogenic	1	1	20	6
MUT:OTC:Arg40His	PROT:P00480	OTC	R	40	H	R40H	Pathogenic/Likely pathogenic	1	1	20	6
MUT:OTC:Arg40Leu	PROT:P00480	OTC	R	40	L	R40L	Likely pathogenic	1	1	20	6
MUT:OTC:Arg92Gln	PROT:P00480	OTC	R	92	Q	R92Q	Pathogenic	1	1	20	4
MUT:OTC:Arg94Thr	PROT:P00480	OTC	R	94	T	R94T	Pathogenic	1	1	20	6
MUT:OTC:Asn161Ser	PROT:P00480	OTC	N	161	S	N161S	Pathogenic	1	1	20	15
MUT:OTC:Asn198Lys	PROT:P00480	OTC	N	198	K	N198K	Pathogenic	1	1	20	23
MUT:OTC:Asn198Ser	PROT:P00480	OTC	N	198	S	N198S	Pathogenic	1	1	20	23
MUT:OTC:Asn199Ile	PROT:P00480	OTC	N	199	I	N199I	Pathogenic	1	1	20	22
MUT:OTC:Asn199Ser	PROT:P00480	OTC	N	199	S	N199S	Pathogenic/Likely pathogenic	1	1	20	22
MUT:OTC:Asn329Lys	PROT:P00480	OTC	N	329	K	N329K	Likely pathogenic	1	1	20	12
MUT:OTC:Asn47Ile	PROT:P00480	OTC	N	47	I	N47I	Pathogenic	1	1	20	1
MUT:OTC:Asp126Asn	PROT:P00480	OTC	D	126	N	D126N	Likely pathogenic	1	1	20	6
MUT:OTC:Asp136Val	PROT:P00480	OTC	D	136	V	D136V	Pathogenic	1	1	20	3
MUT:OTC:Asp175His	PROT:P00480	OTC	D	175	H	D175H	Likely pathogenic	1	1	20	29
MUT:OTC:Asp175Tyr	PROT:P00480	OTC	D	175	Y	D175Y	Likely pathogenic	1	1	20	29
MUT:OTC:Asp196Asn	PROT:P00480	OTC	D	196	N	D196N	Pathogenic	1	1	20	25
MUT:OTC:Asp196Glu	PROT:P00480	OTC	D	196	E	D196E	Likely pathogenic	1	1	20	25
MUT:OTC:Asp196Tyr	PROT:P00480	OTC	D	196	Y	D196Y	Likely pathogenic	1	1	20	25
MUT:OTC:Asp263Gly	PROT:P00480	OTC	D	263	G	D263G	Likely pathogenic	1	2	20	11
MUT:OTC:Asp41Gly	PROT:P00480	OTC	D	41	G	D41G	Likely pathogenic	1	1	20	5
MUT:OTC:Cys303Gly	PROT:P00480	OTC	C	303	G	C303G	Pathogenic/Likely pathogenic	1	1	20	4
MUT:OTC:Gln171His	PROT:P00480	OTC	Q	171	H	Q171H	Likely pathogenic	1	1	20	25
MUT:OTC:Gln180His	PROT:P00480	OTC	Q	180	H	Q180H	Pathogenic	1	1	20	34
MUT:OTC:Gln180Pro	PROT:P00480	OTC	Q	180	P	Q180P	Likely pathogenic	1	1	20	34
MUT:OTC:Gln216Glu	PROT:P00480	OTC	Q	216	E	Q216E	Pathogenic	1	1	20	5
MUT:OTC:Gln270Arg	PROT:P00480	OTC	Q	270	R	Q270R	Benign/Likely benign	0	1	20	4
MUT:OTC:Glu122Gly	PROT:P00480	OTC	E	122	G	E122G	Likely pathogenic	1	1	20	10
MUT:OTC:Glu181Lys	PROT:P00480	OTC	E	181	K	E181K	Likely pathogenic	1	1	20	35
MUT:OTC:Glu239Asp	PROT:P00480	OTC	E	239	D	E239D	Likely pathogenic	1	1	20	1
MUT:OTC:Glu310Val	PROT:P00480	OTC	E	310	V	E310V	Pathogenic	1	1	20	3
MUT:OTC:Glu52Lys	PROT:P00480	OTC	E	52	K	E52K	Pathogenic	1	1	20	3
MUT:OTC:Glu72Lys	PROT:P00480	OTC	E	72	K	E72K	Pathogenic	1	1	20	8
MUT:OTC:Glu87Lys	PROT:P00480	OTC	E	87	K	E87K	Pathogenic	1	1	20	1
MUT:OTC:Gly100Cys	PROT:P00480	OTC	G	100	C	G100C	Pathogenic	1	1	20	12
MUT:OTC:Gly162Arg	PROT:P00480	OTC	G	162	R	G162R	Pathogenic	1	1	20	16
MUT:OTC:Gly162Val	PROT:P00480	OTC	G	162	V	G162V	Likely pathogenic	1	1	20	16
MUT:OTC:Gly188Ala	PROT:P00480	OTC	G	188	A	G188A	Likely pathogenic	1	2	20	33
MUT:OTC:Gly188Arg	PROT:P00480	OTC	G	188	R	G188R	Likely pathogenic	1	1	20	33
MUT:OTC:Gly188Ser	PROT:P00480	OTC	G	188	S	G188S	Likely pathogenic	1	1	20	33
MUT:OTC:Gly188Val	PROT:P00480	OTC	G	188	V	G188V	Likely pathogenic	1	1	20	33
MUT:OTC:Gly195Ala	PROT:P00480	OTC	G	195	A	G195A	Pathogenic	1	1	20	26
MUT:OTC:Gly195Arg	PROT:P00480	OTC	G	195	R	G195R	Pathogenic	1	1	20	26
MUT:OTC:Gly197Arg	PROT:P00480	OTC	G	197	R	G197R	Pathogenic/Likely pathogenic	1	1	20	24
MUT:OTC:Gly212Arg	PROT:P00480	OTC	G	212	R	G212R	Likely benign	0	1	20	9
MUT:OTC:Gly212Val	PROT:P00480	OTC	G	212	V	G212V	Pathogenic	1	1	20	9
MUT:OTC:Gly222Ser	PROT:P00480	OTC	G	222	S	G222S	Likely benign	0	1	20	1
MUT:OTC:Gly269Glu	PROT:P00480	OTC	G	269	E	G269E	Pathogenic	1	1	20	5
MUT:OTC:Gly39Ala	PROT:P00480	OTC	G	39	A	G39A	Pathogenic	1	1	20	7
MUT:OTC:Gly39Val	PROT:P00480	OTC	G	39	V	G39V	Likely pathogenic	1	1	20	7
MUT:OTC:Gly79Glu	PROT:P00480	OTC	G	79	E	G79E	Likely pathogenic	1	1	20	1
MUT:OTC:His117Pro	PROT:P00480	OTC	H	117	P	H117P	Likely pathogenic	1	1	20	15
MUT:OTC:His168Arg	PROT:P00480	OTC	H	168	R	H168R	Pathogenic	1	1	20	22
MUT:OTC:His168Tyr	PROT:P00480	OTC	H	168	Y	H168Y	Likely pathogenic	1	1	20	22
MUT:OTC:His202Asp	PROT:P00480	OTC	H	202	D	H202D	Likely pathogenic	1	1	20	19
MUT:OTC:His202Tyr	PROT:P00480	OTC	H	202	Y	H202Y	Pathogenic	1	1	20	19
MUT:OTC:His214Tyr	PROT:P00480	OTC	H	214	Y	H214Y	Likely pathogenic	1	1	20	7
MUT:OTC:His302Asp	PROT:P00480	OTC	H	302	D	H302D	Likely pathogenic	1	1	20	5
MUT:OTC:Ile159Met	PROT:P00480	OTC	I	159	M	I159M	Likely pathogenic	1	1	20	13
MUT:OTC:Ile160Met	PROT:P00480	OTC	I	160	M	I160M	Likely pathogenic	1	1	20	14
MUT:OTC:Ile160Phe	PROT:P00480	OTC	I	160	F	I160F	Likely pathogenic	1	1	20	14
MUT:OTC:Ile53Thr	PROT:P00480	OTC	I	53	T	I53T	Pathogenic/Likely pathogenic	1	1	20	2
MUT:OTC:Ile85Thr	PROT:P00480	OTC	I	85	T	I85T	Likely pathogenic	1	1	20	3
MUT:OTC:Leu111Pro	PROT:P00480	OTC	L	111	P	L111P	Pathogenic	1	1	20	21
MUT:OTC:Leu139Ser	PROT:P00480	OTC	L	139	S	L139S	Pathogenic/Likely pathogenic	1	2	20	5
MUT:OTC:Leu148Phe	PROT:P00480	OTC	L	148	F	L148F	Pathogenic	1	1	20	2
MUT:OTC:Leu148Ser	PROT:P00480	OTC	L	148	S	L148S	Likely pathogenic	1	1	20	2
MUT:OTC:Leu163Arg	PROT:P00480	OTC	L	163	R	L163R	Pathogenic	1	1	20	17
MUT:OTC:Leu163Gln	PROT:P00480	OTC	L	163	Q	L163Q	Likely pathogenic	1	1	20	17
MUT:OTC:Leu173Val	PROT:P00480	OTC	L	173	V	L173V	Pathogenic	1	1	20	27
MUT:OTC:Leu179Phe	PROT:P00480	OTC	L	179	F	L179F	Pathogenic	1	1	20	33
MUT:OTC:Leu201Pro	PROT:P00480	OTC	L	201	P	L201P	Likely pathogenic	1	1	20	20
MUT:OTC:Leu244Pro	PROT:P00480	OTC	L	244	P	L244P	Likely pathogenic	1	1	20	6
MUT:OTC:Leu301Phe	PROT:P00480	OTC	L	301	F	L301F	Pathogenic/Likely pathogenic	1	1	20	5
MUT:OTC:Leu304Phe	PROT:P00480	OTC	L	304	F	L304F	Pathogenic	1	1	20	3
MUT:OTC:Leu43Pro	PROT:P00480	OTC	L	43	P	L43P	Pathogenic	1	1	20	3
MUT:OTC:Leu45Arg	PROT:P00480	OTC	L	45	R	L45R	Likely pathogenic	1	1	20	1
MUT:OTC:Leu45Pro	PROT:P00480	OTC	L	45	P	L45P	Pathogenic	1	1	20	1
MUT:OTC:Leu45Val	PROT:P00480	OTC	L	45	V	L45V	Pathogenic	1	1	20	1
MUT:OTC:Leu77Phe	PROT:P00480	OTC	L	77	F	L77F	Pathogenic	1	1	20	3
MUT:OTC:Lys210Glu	PROT:P00480	OTC	K	210	E	K210E	Likely pathogenic	1	1	20	11
MUT:OTC:Lys210Ile	PROT:P00480	OTC	K	210	I	K210I	Likely pathogenic	1	1	20	11
MUT:OTC:Lys210Thr	PROT:P00480	OTC	K	210	T	K210T	Likely pathogenic	1	1	20	11
MUT:OTC:Lys221Asn	PROT:P00480	OTC	K	221	N	K221N	Pathogenic	1	2	20	0
MUT:OTC:Lys46Arg	PROT:P00480	OTC	K	46	R	K46R	Benign	0	2	20	0
MUT:OTC:Lys80Glu	PROT:P00480	OTC	K	80	E	K80E	Pathogenic	1	1	20	0
MUT:OTC:Met1Ile	PROT:P00480	OTC	M	1	I	M1I	Pathogenic	1	1	20	45
MUT:OTC:Met1Thr	PROT:P00480	OTC	M	1	T	M1T	Pathogenic	1	1	20	45
MUT:OTC:Met1Val	PROT:P00480	OTC	M	1	V	M1V	Likely pathogenic	1	1	20	45
MUT:OTC:Met205Lys	PROT:P00480	OTC	M	205	K	M205K	Likely pathogenic	1	1	20	16
MUT:OTC:Met205Thr	PROT:P00480	OTC	M	205	T	M205T	Pathogenic/Likely pathogenic	1	1	20	16
MUT:OTC:Met205Val	PROT:P00480	OTC	M	205	V	M205V	Pathogenic	1	1	20	16
MUT:OTC:Met206Arg	PROT:P00480	OTC	M	206	R	M206R	Pathogenic/Likely pathogenic	1	1	20	15
MUT:OTC:Met206Ile	PROT:P00480	OTC	M	206	I	M206I	Pathogenic	1	1	20	15
MUT:OTC:Met206Lys	PROT:P00480	OTC	M	206	K	M206K	Likely pathogenic	1	1	20	15
MUT:OTC:Met21Val	PROT:P00480	OTC	M	21	V	M21V	Likely benign	0	1	20	25
MUT:OTC:Met268Lys	PROT:P00480	OTC	M	268	K	M268K	Likely pathogenic	1	1	20	6
MUT:OTC:Met268Thr	PROT:P00480	OTC	M	268	T	M268T	Pathogenic/Likely pathogenic	1	1	20	6
MUT:OTC:Met338Leu	PROT:P00480	OTC	M	338	L	M338L	Likely benign	0	1	20	7
MUT:OTC:Phe316Val	PROT:P00480	OTC	F	316	V	F316V	Pathogenic	1	1	20	1
MUT:OTC:Pro158Leu	PROT:P00480	OTC	P	158	L	P158L	Pathogenic/Likely pathogenic	1	1	20	12
MUT:OTC:Pro169Ala	PROT:P00480	OTC	P	169	A	P169A	Pathogenic	1	1	20	23
MUT:OTC:Pro169Leu	PROT:P00480	OTC	P	169	L	P169L	Pathogenic/Likely pathogenic	1	1	20	23
MUT:OTC:Pro169Ser	PROT:P00480	OTC	P	169	S	P169S	Pathogenic	1	1	20	23
MUT:OTC:Pro225Gln	PROT:P00480	OTC	P	225	Q	P225Q	Likely pathogenic	1	1	20	2
MUT:OTC:Pro225Leu	PROT:P00480	OTC	P	225	L	P225L	Pathogenic	1	1	20	2
MUT:OTC:Pro225Ser	PROT:P00480	OTC	P	225	S	P225S	Likely pathogenic	1	1	20	2
MUT:OTC:Pro305Arg	PROT:P00480	OTC	P	305	R	P305R	Pathogenic	1	1	20	2
MUT:OTC:Pro347Ser	PROT:P00480	OTC	P	347	S	P347S	Pathogenic	1	1	20	2
MUT:OTC:Pro347Thr	PROT:P00480	OTC	P	347	T	P347T	Likely pathogenic	1	1	20	2
MUT:OTC:Ser132Tyr	PROT:P00480	OTC	S	132	Y	S132Y	Pathogenic	1	1	20	0
MUT:OTC:Ser164Leu	PROT:P00480	OTC	S	164	L	S164L	Likely pathogenic	1	1	20	18
MUT:OTC:Ser203Cys	PROT:P00480	OTC	S	203	C	S203C	Pathogenic	1	1	20	18
MUT:OTC:Ser203Pro	PROT:P00480	OTC	S	203	P	S203P	Likely pathogenic	1	1	20	18
MUT:OTC:Ser207Arg	PROT:P00480	OTC	S	207	R	S207R	Likely pathogenic	1	1	20	14
MUT:OTC:Ser321Pro	PROT:P00480	OTC	S	321	P	S321P	Likely pathogenic	1	1	20	4
MUT:OTC:Ser340Phe	PROT:P00480	OTC	S	340	F	S340F	Pathogenic/Likely pathogenic	1	1	20	5
MUT:OTC:Ser81Pro	PROT:P00480	OTC	S	81	P	S81P	Pathogenic/Likely pathogenic	1	1	20	1
MUT:OTC:Thr150Ala	PROT:P00480	OTC	T	150	A	T150A	Likely benign	0	1	20	4
MUT:OTC:Thr150Ile	PROT:P00480	OTC	T	150	I	T150I	Benign	0	1	20	4
MUT:OTC:Thr178Met	PROT:P00480	OTC	T	178	M	T178M	Pathogenic	1	1	20	32
MUT:OTC:Thr242Ile	PROT:P00480	OTC	T	242	I	T242I	Pathogenic	1	1	20	4
MUT:OTC:Thr247Arg	PROT:P00480	OTC	T	247	R	T247R	Pathogenic	1	1	20	9
MUT:OTC:Thr264Ala	PROT:P00480	OTC	T	264	A	T264A	Pathogenic	1	1	20	10
MUT:OTC:Thr343Arg	PROT:P00480	OTC	T	343	R	T343R	Likely pathogenic	1	1	20	2
MUT:OTC:Thr44Ile	PROT:P00480	OTC	T	44	I	T44I	Pathogenic	1	1	20	2
MUT:OTC:Thr93Arg	PROT:P00480	OTC	T	93	R	T93R	Likely pathogenic	1	1	20	5
MUT:OTC:Trp193Arg	PROT:P00480	OTC	W	193	R	W193R	Likely pathogenic	1	1	20	28
MUT:OTC:Trp193Cys	PROT:P00480	OTC	W	193	C	W193C	Pathogenic	1	1	20	28
MUT:OTC:Trp332Arg	PROT:P00480	OTC	W	332	R	W332R	Pathogenic	1	1	20	13
MUT:OTC:Tyr183Cys	PROT:P00480	OTC	Y	183	C	Y183C	Pathogenic	1	1	20	37
MUT:OTC:Tyr345Asp	PROT:P00480	OTC	Y	345	D	Y345D	Pathogenic	1	1	20	0
MUT:OTC:Tyr345Phe	PROT:P00480	OTC	Y	345	F	Y345F	Likely pathogenic	1	1	20	0
MUT:OTC:Val315Ala	PROT:P00480	OTC	V	315	A	V315A	Pathogenic	1	1	20	2
MUT:OTC:Val315Asp	PROT:P00480	OTC	V	315	D	V315D	Pathogenic	1	1	20	2
MUT:OTC:Val315Gly	PROT:P00480	OTC	V	315	G	V315G	Pathogenic	1	1	20	2
MUT:OTC:Val315Ile	PROT:P00480	OTC	V	315	I	V315I	Likely pathogenic	1	1	20	2
MUT:OTC:Val315Leu	PROT:P00480	OTC	V	315	L	V315L	Likely pathogenic	1	1	20	2
MUT:OTC:Val315Phe	PROT:P00480	OTC	V	315	F	V315F	Likely pathogenic	1	1	20	2
MUT:OTC:Val339Met	PROT:P00480	OTC	V	339	M	V339M	Likely pathogenic	1	1	20	6
MUT:OTUD4:Ala216Thr	PROT:Q01804	OTUD4	A	216	T	A216T	Benign	0	1	2	244
MUT:OTUD4:Val567Met	PROT:Q01804	OTUD4	V	567	M	V567M	Likely benign	0	1	2	107
MUT:OTUD6B:Glu134Gly	PROT:Q8N6M0	OTUD6B	E	134	G	E134G	Likely pathogenic	1	1	7	17
MUT:OTUD6B:Ile244Arg	PROT:Q8N6M0	OTUD6B	I	244	R	I244R	Likely pathogenic	1	1	7	55
MUT:OTUD6B:Ile253Val	PROT:Q8N6M0	OTUD6B	I	253	V	I253V	Likely benign	0	1	7	64
MUT:OTUD6B:Leu229Pro	PROT:Q8N6M0	OTUD6B	L	229	P	L229P	Likely pathogenic	1	1	7	40
MUT:OTUD6B:Thr14Ala	PROT:Q8N6M0	OTUD6B	T	14	A	T14A	Likely benign	0	1	7	40
MUT:OTUD6B:Trp10Arg	PROT:Q8N6M0	OTUD6B	W	10	R	W10R	Likely benign	0	1	7	44
MUT:OTUD6B:Tyr186Cys	PROT:Q8N6M0	OTUD6B	Y	186	C	Y186C	Likely pathogenic	1	1	7	3
MUT:OTULIN:Arg306Gln	PROT:Q96BN8	OTULIN	R	306	Q	R306Q	Pathogenic	1	1	7	62
MUT:OTULIN:Asn311Ser	PROT:Q96BN8	OTULIN	N	311	S	N311S	Benign/Likely benign	0	1	7	67
MUT:OTULIN:Gln115His	PROT:Q96BN8	OTULIN	Q	115	H	Q115H	Benign/Likely benign	0	1	7	49
MUT:OTULIN:Gly281Arg	PROT:Q96BN8	OTULIN	G	281	R	G281R	Pathogenic	1	1	7	37
MUT:OTULIN:Leu272Pro	PROT:Q96BN8	OTULIN	L	272	P	L272P	Pathogenic	1	1	7	28
MUT:OTULIN:Met155Leu	PROT:Q96BN8	OTULIN	M	155	L	M155L	Benign/Likely benign	0	1	7	9
MUT:OTULIN:Met86Ile	PROT:Q96BN8	OTULIN	M	86	I	M86I	Pathogenic	1	1	7	78
MUT:OTULIN:Trp167Ser	PROT:Q96BN8	OTULIN	W	167	S	W167S	Pathogenic	1	1	7	2
MUT:OTX1:Gly226Ser	PROT:P32242	OTX1	G	226	S	G226S	Benign	0	3	2	111
MUT:OVOL2:Asp228Glu	PROT:Q9BRP0	OVOL2	D	228	E	D228E	Benign/Likely benign	0	1	4	38
MUT:OXA1L:Cys147Phe	PROT:Q15070	OXA1L	C	147	F	C147F	Pathogenic	1	1	7	91
MUT:OXA1L:Thr375Met	PROT:Q15070	OXA1L	T	375	M	T375M	Likely benign	0	1	7	28
MUT:OXTR:Ala238Thr	PROT:P30559	OXTR	A	238	T	A238T	Benign	0	1	3	128
MUT:OXTR:Glu339Lys	PROT:P30559	OXTR	E	339	K	E339K	Benign	0	1	3	27
MUT:P2RY12:Arg265Pro	PROT:Q9H244	P2RY12	R	265	P	R265P	Pathogenic/Likely pathogenic	1	2	3	1
MUT:P2RY12:Glu330Gly	PROT:Q9H244	P2RY12	E	330	G	E330G	Benign	0	1	3	66
MUT:P2RY12:His187Gln	PROT:Q9H244	P2RY12	H	187	Q	H187Q	Likely pathogenic	1	1	3	75
MUT:P2RY12:Lys174Glu	PROT:Q9H244	P2RY12	K	174	E	K174E	Likely pathogenic	1	1	3	85
MUT:P2RY8:Pro290Arg	PROT:Q86VZ1	P2RY8	P	290	R	P290R	Likely pathogenic	1	1	8	34
MUT:P3H2:Ala105Thr	PROT:Q8IVL5	P3H2	A	105	T	A105T	Benign/Likely benign	0	1	15	7
MUT:P3H2:Ala267Thr	PROT:Q8IVL5	P3H2	A	267	T	A267T	Likely benign	0	1	15	59
MUT:P3H2:Asn215Ser	PROT:Q8IVL5	P3H2	N	215	S	N215S	Likely benign	0	1	15	7
MUT:P3H2:Gly390Glu	PROT:Q8IVL5	P3H2	G	390	E	G390E	Benign	0	1	15	7
MUT:P3H2:Gly508Val	PROT:Q8IVL5	P3H2	G	508	V	G508V	Pathogenic/Likely pathogenic	1	1	15	3
MUT:PABPC1:Asp45Gly	PROT:P11940	PABPC1	D	45	G	D45G	Likely pathogenic	1	1	44	13
MUT:PABPC1:Leu562Ser	PROT:P11940	PABPC1	L	562	S	L562S	Pathogenic	1	1	44	37
MUT:PABPC1:Thr319Ile	PROT:P11940	PABPC1	T	319	I	T319I	Likely benign	0	1	44	0
MUT:PABPC1:Thr416Ser	PROT:P11940	PABPC1	T	416	S	T416S	Likely benign	0	1	44	6
MUT:PADI6:Ala220Glu	PROT:Q6TGC4	PADI6	A	220	E	A220E	Likely pathogenic	1	1	1	226
MUT:PADI6:Ala96Gly	PROT:Q6TGC4	PADI6	A	96	G	A96G	Likely benign	0	1	1	350
MUT:PADI6:Arg352Cys	PROT:Q6TGC4	PADI6	R	352	C	R352C	Likely pathogenic	1	1	1	94
MUT:PADI6:Glu127Asp	PROT:Q6TGC4	PADI6	E	127	D	E127D	Likely benign	0	1	1	319
MUT:PADI6:Gly540Arg	PROT:Q6TGC4	PADI6	G	540	R	G540R	Likely pathogenic	1	1	1	94
MUT:PADI6:His211Gln	PROT:Q6TGC4	PADI6	H	211	Q	H211Q	Pathogenic	1	1	1	235
MUT:PADI6:Ile181Phe	PROT:Q6TGC4	PADI6	I	181	F	I181F	Likely benign	0	1	1	265
MUT:PADI6:Lys409Arg	PROT:Q6TGC4	PADI6	K	409	R	K409R	Likely benign	0	1	1	37
MUT:PADI6:Pro632Thr	PROT:Q6TGC4	PADI6	P	632	T	P632T	Likely pathogenic	1	1	1	186
MUT:PADI6:Thr333Met	PROT:Q6TGC4	PADI6	T	333	M	T333M	Likely benign	0	1	1	113
MUT:PADI6:Thr81Met	PROT:Q6TGC4	PADI6	T	81	M	T81M	Likely benign	0	1	1	365
MUT:PADI6:Trp224Arg	PROT:Q6TGC4	PADI6	W	224	R	W224R	Likely benign	0	1	1	222
MUT:PADI6:Tyr275Phe	PROT:Q6TGC4	PADI6	Y	275	F	Y275F	Likely benign	0	1	1	171
MUT:PADI6:Val259Ile	PROT:Q6TGC4	PADI6	V	259	I	V259I	Benign	0	1	1	187
MUT:PADI6:Val26Ile	PROT:Q6TGC4	PADI6	V	26	I	V26I	Likely benign	0	1	1	420
MUT:PAH:Ala104Asp	PROT:P00439	PAH	A	104	D	A104D	Pathogenic	1	2	21	6
MUT:PAH:Ala104Val	PROT:P00439	PAH	A	104	V	A104V	Likely pathogenic	1	1	21	6
MUT:PAH:Ala132Val	PROT:P00439	PAH	A	132	V	A132V	Likely pathogenic	1	1	21	15
MUT:PAH:Ala156Gly	PROT:P00439	PAH	A	156	G	A156G	Likely pathogenic	1	1	21	3
MUT:PAH:Ala156Pro	PROT:P00439	PAH	A	156	P	A156P	Pathogenic	1	1	21	3
MUT:PAH:Ala156Val	PROT:P00439	PAH	A	156	V	A156V	Likely pathogenic	1	1	21	3
MUT:PAH:Ala165Asp	PROT:P00439	PAH	A	165	D	A165D	Likely pathogenic	1	1	21	1
MUT:PAH:Ala165Thr	PROT:P00439	PAH	A	165	T	A165T	Likely pathogenic	1	1	21	1
MUT:PAH:Ala202Thr	PROT:P00439	PAH	A	202	T	A202T	Likely pathogenic	1	1	21	3
MUT:PAH:Ala202Val	PROT:P00439	PAH	A	202	V	A202V	Likely pathogenic	1	1	21	3
MUT:PAH:Ala246Val	PROT:P00439	PAH	A	246	V	A246V	Likely pathogenic	1	1	21	28
MUT:PAH:Ala259Thr	PROT:P00439	PAH	A	259	T	A259T	Pathogenic	1	1	21	15
MUT:PAH:Ala259Val	PROT:P00439	PAH	A	259	V	A259V	Pathogenic	1	1	21	15
MUT:PAH:Ala300Gly	PROT:P00439	PAH	A	300	G	A300G	Likely pathogenic	1	1	21	26
MUT:PAH:Ala300Ser	PROT:P00439	PAH	A	300	S	A300S	Pathogenic	1	3	21	26
MUT:PAH:Ala300Val	PROT:P00439	PAH	A	300	V	A300V	Likely pathogenic	1	1	21	26
MUT:PAH:Ala309Asp	PROT:P00439	PAH	A	309	D	A309D	Pathogenic	1	1	21	35
MUT:PAH:Ala309Ser	PROT:P00439	PAH	A	309	S	A309S	Likely pathogenic	1	1	21	35
MUT:PAH:Ala309Thr	PROT:P00439	PAH	A	309	T	A309T	Likely pathogenic	1	1	21	35
MUT:PAH:Ala309Val	PROT:P00439	PAH	A	309	V	A309V	Pathogenic	1	2	21	35
MUT:PAH:Ala313Glu	PROT:P00439	PAH	A	313	E	A313E	Likely pathogenic	1	1	21	39
MUT:PAH:Ala313Val	PROT:P00439	PAH	A	313	V	A313V	Pathogenic	1	1	21	39
MUT:PAH:Ala322Asp	PROT:P00439	PAH	A	322	D	A322D	Pathogenic	1	1	21	39
MUT:PAH:Ala322Gly	PROT:P00439	PAH	A	322	G	A322G	Likely pathogenic	1	2	21	39
MUT:PAH:Ala322Thr	PROT:P00439	PAH	A	322	T	A322T	Pathogenic	1	2	21	39
MUT:PAH:Ala342Glu	PROT:P00439	PAH	A	342	E	A342E	Likely pathogenic	1	1	21	19
MUT:PAH:Ala342Pro	PROT:P00439	PAH	A	342	P	A342P	Pathogenic	1	1	21	19
MUT:PAH:Ala342Thr	PROT:P00439	PAH	A	342	T	A342T	Pathogenic/Likely pathogenic	1	1	21	19
MUT:PAH:Ala345Ser	PROT:P00439	PAH	A	345	S	A345S	Pathogenic	1	2	21	16
MUT:PAH:Ala345Thr	PROT:P00439	PAH	A	345	T	A345T	Likely pathogenic	1	1	21	16
MUT:PAH:Ala373Asp	PROT:P00439	PAH	A	373	D	A373D	Likely pathogenic	1	1	21	10
MUT:PAH:Ala373Thr	PROT:P00439	PAH	A	373	T	A373T	Likely pathogenic	1	1	21	10
MUT:PAH:Ala395Asp	PROT:P00439	PAH	A	395	D	A395D	Likely pathogenic	1	1	21	16
MUT:PAH:Ala395Gly	PROT:P00439	PAH	A	395	G	A395G	Pathogenic	1	1	21	16
MUT:PAH:Ala395Pro	PROT:P00439	PAH	A	395	P	A395P	Pathogenic	1	1	21	16
MUT:PAH:Ala403Val	PROT:P00439	PAH	A	403	V	A403V	Pathogenic	1	3	21	8
MUT:PAH:Ala434Asp	PROT:P00439	PAH	A	434	D	A434D	Pathogenic	1	1	21	2
MUT:PAH:Ala434Val	PROT:P00439	PAH	A	434	V	A434V	Likely pathogenic	1	1	21	2
MUT:PAH:Ala447Asp	PROT:P00439	PAH	A	447	D	A447D	Pathogenic	1	2	21	11
MUT:PAH:Ala447Thr	PROT:P00439	PAH	A	447	T	A447T	Pathogenic	1	1	21	11
MUT:PAH:Ala47Val	PROT:P00439	PAH	A	47	V	A47V	Likely pathogenic	1	2	21	3
MUT:PAH:Arg155Cys	PROT:P00439	PAH	R	155	C	R155C	Likely pathogenic	1	1	21	4
MUT:PAH:Arg155His	PROT:P00439	PAH	R	155	H	R155H	Pathogenic	1	1	21	4
MUT:PAH:Arg155Pro	PROT:P00439	PAH	R	155	P	R155P	Likely pathogenic	1	1	21	4
MUT:PAH:Arg157Ile	PROT:P00439	PAH	R	157	I	R157I	Likely pathogenic	1	1	21	2
MUT:PAH:Arg157Lys	PROT:P00439	PAH	R	157	K	R157K	Likely pathogenic	1	1	21	2
MUT:PAH:Arg158Gln	PROT:P00439	PAH	R	158	Q	R158Q	Pathogenic	1	2	21	1
MUT:PAH:Arg158Gly	PROT:P00439	PAH	R	158	G	R158G	Pathogenic	1	1	21	1
MUT:PAH:Arg158Trp	PROT:P00439	PAH	R	158	W	R158W	Pathogenic	1	1	21	1
MUT:PAH:Arg169Cys	PROT:P00439	PAH	R	169	C	R169C	Likely pathogenic	1	1	21	3
MUT:PAH:Arg169Gly	PROT:P00439	PAH	R	169	G	R169G	Pathogenic	1	1	21	3
MUT:PAH:Arg169His	PROT:P00439	PAH	R	169	H	R169H	Likely pathogenic	1	3	21	3
MUT:PAH:Arg169Leu	PROT:P00439	PAH	R	169	L	R169L	Pathogenic	1	1	21	3
MUT:PAH:Arg169Ser	PROT:P00439	PAH	R	169	S	R169S	Pathogenic	1	1	21	3
MUT:PAH:Arg176Gln	PROT:P00439	PAH	R	176	Q	R176Q	Pathogenic	1	3	21	9
MUT:PAH:Arg176Leu	PROT:P00439	PAH	R	176	L	R176L	Pathogenic	1	3	21	9
MUT:PAH:Arg176Pro	PROT:P00439	PAH	R	176	P	R176P	Pathogenic	1	1	21	9
MUT:PAH:Arg241Cys	PROT:P00439	PAH	R	241	C	R241C	Pathogenic	1	2	21	33
MUT:PAH:Arg241His	PROT:P00439	PAH	R	241	H	R241H	Pathogenic	1	1	21	33
MUT:PAH:Arg241Leu	PROT:P00439	PAH	R	241	L	R241L	Pathogenic	1	1	21	33
MUT:PAH:Arg241Ser	PROT:P00439	PAH	R	241	S	R241S	Likely pathogenic	1	1	21	33
MUT:PAH:Arg243Gln	PROT:P00439	PAH	R	243	Q	R243Q	Pathogenic/Likely pathogenic	1	2	21	31
MUT:PAH:Arg243Leu	PROT:P00439	PAH	R	243	L	R243L	Likely pathogenic	1	1	21	31
MUT:PAH:Arg252Gln	PROT:P00439	PAH	R	252	Q	R252Q	Pathogenic	1	1	21	22
MUT:PAH:Arg252Gly	PROT:P00439	PAH	R	252	G	R252G	Pathogenic	1	1	21	22
MUT:PAH:Arg252Pro	PROT:P00439	PAH	R	252	P	R252P	Likely pathogenic	1	1	21	22
MUT:PAH:Arg252Trp	PROT:P00439	PAH	R	252	W	R252W	Pathogenic	1	2	21	22
MUT:PAH:Arg261Gln	PROT:P00439	PAH	R	261	Q	R261Q	Pathogenic	1	2	21	13
MUT:PAH:Arg261Leu	PROT:P00439	PAH	R	261	L	R261L	Likely pathogenic	1	1	21	13
MUT:PAH:Arg261Pro	PROT:P00439	PAH	R	261	P	R261P	Pathogenic	1	1	21	13
MUT:PAH:Arg270Gly	PROT:P00439	PAH	R	270	G	R270G	Pathogenic	1	1	21	4
MUT:PAH:Arg270Lys	PROT:P00439	PAH	R	270	K	R270K	Pathogenic	1	1	21	4
MUT:PAH:Arg270Ser	PROT:P00439	PAH	R	270	S	R270S	Pathogenic	1	1	21	4
MUT:PAH:Arg297Cys	PROT:P00439	PAH	R	297	C	R297C	Likely pathogenic	1	1	21	23
MUT:PAH:Arg297His	PROT:P00439	PAH	R	297	H	R297H	Pathogenic	1	2	21	23
MUT:PAH:Arg297Leu	PROT:P00439	PAH	R	297	L	R297L	Likely pathogenic	1	1	21	23
MUT:PAH:Arg400Lys	PROT:P00439	PAH	R	400	K	R400K	Pathogenic	1	1	21	11
MUT:PAH:Arg400Ser	PROT:P00439	PAH	R	400	S	R400S	Likely pathogenic	1	1	21	11
MUT:PAH:Arg400Thr	PROT:P00439	PAH	R	400	T	R400T	Pathogenic	1	1	21	11
MUT:PAH:Arg408Gln	PROT:P00439	PAH	R	408	Q	R408Q	Pathogenic	1	3	21	3
MUT:PAH:Arg408Trp	PROT:P00439	PAH	R	408	W	R408W	Pathogenic	1	2	21	3
MUT:PAH:Arg413His	PROT:P00439	PAH	R	413	H	R413H	Pathogenic/Likely pathogenic	1	1	21	2
MUT:PAH:Arg413Pro	PROT:P00439	PAH	R	413	P	R413P	Pathogenic	1	1	21	2
MUT:PAH:Arg413Ser	PROT:P00439	PAH	R	413	S	R413S	Pathogenic	1	1	21	2
MUT:PAH:Arg420Gly	PROT:P00439	PAH	R	420	G	R420G	Pathogenic/Likely pathogenic	1	1	21	9
MUT:PAH:Arg420Met	PROT:P00439	PAH	R	420	M	R420M	Likely pathogenic	1	1	21	9
MUT:PAH:Arg53Cys	PROT:P00439	PAH	R	53	C	R53C	Likely pathogenic	1	2	21	3
MUT:PAH:Arg53Ser	PROT:P00439	PAH	R	53	S	R53S	Likely pathogenic	1	1	21	3
MUT:PAH:Arg68Gly	PROT:P00439	PAH	R	68	G	R68G	Pathogenic	1	1	21	18
MUT:PAH:Arg68Ser	PROT:P00439	PAH	R	68	S	R68S	Pathogenic	1	2	21	18
MUT:PAH:Arg71His	PROT:P00439	PAH	R	71	H	R71H	Likely pathogenic	1	2	21	16
MUT:PAH:Arg86Pro	PROT:P00439	PAH	R	86	P	R86P	Likely pathogenic	1	1	21	1
MUT:PAH:Asn167Ile	PROT:P00439	PAH	N	167	I	N167I	Likely pathogenic	1	1	21	1
MUT:PAH:Asn207Asp	PROT:P00439	PAH	N	207	D	N207D	Likely pathogenic	1	1	21	8
MUT:PAH:Asn207Ser	PROT:P00439	PAH	N	207	S	N207S	Likely pathogenic	1	1	21	8
MUT:PAH:Asn223Ile	PROT:P00439	PAH	N	223	I	N223I	Likely pathogenic	1	2	21	24
MUT:PAH:Asn61Asp	PROT:P00439	PAH	N	61	D	N61D	Likely pathogenic	1	1	21	11
MUT:PAH:Asn61Lys	PROT:P00439	PAH	N	61	K	N61K	Likely pathogenic	1	1	21	11
MUT:PAH:Asp101Asn	PROT:P00439	PAH	D	101	N	D101N	Likely pathogenic	1	1	21	5
MUT:PAH:Asp129Gly	PROT:P00439	PAH	D	129	G	D129G	Likely pathogenic	1	1	21	12
MUT:PAH:Asp129Tyr	PROT:P00439	PAH	D	129	Y	D129Y	Pathogenic/Likely pathogenic	1	1	21	12
MUT:PAH:Asp143Gly	PROT:P00439	PAH	D	143	G	D143G	Pathogenic/Likely pathogenic	1	1	21	7
MUT:PAH:Asp143Val	PROT:P00439	PAH	D	143	V	D143V	Pathogenic/Likely pathogenic	1	1	21	7
MUT:PAH:Asp145Glu	PROT:P00439	PAH	D	145	E	D145E	Likely pathogenic	1	1	21	5
MUT:PAH:Asp145Val	PROT:P00439	PAH	D	145	V	D145V	Likely pathogenic	1	2	21	5
MUT:PAH:Asp151Asn	PROT:P00439	PAH	D	151	N	D151N	Likely pathogenic	1	1	21	1
MUT:PAH:Asp151Glu	PROT:P00439	PAH	D	151	E	D151E	Likely pathogenic	1	1	21	1
MUT:PAH:Asp151Gly	PROT:P00439	PAH	D	151	G	D151G	Likely pathogenic	1	1	21	1
MUT:PAH:Asp151His	PROT:P00439	PAH	D	151	H	D151H	Likely pathogenic	1	1	21	1
MUT:PAH:Asp222Glu	PROT:P00439	PAH	D	222	E	D222E	Likely pathogenic	1	1	21	23
MUT:PAH:Asp222Gly	PROT:P00439	PAH	D	222	G	D222G	Likely pathogenic	1	1	21	23
MUT:PAH:Asp222Val	PROT:P00439	PAH	D	222	V	D222V	Likely pathogenic	1	1	21	23
MUT:PAH:Asp229Gly	PROT:P00439	PAH	D	229	G	D229G	Likely pathogenic	1	1	21	30
MUT:PAH:Asp282Asn	PROT:P00439	PAH	D	282	N	D282N	Pathogenic	1	1	21	8
MUT:PAH:Asp282Gly	PROT:P00439	PAH	D	282	G	D282G	Pathogenic/Likely pathogenic	1	1	21	8
MUT:PAH:Asp296Asn	PROT:P00439	PAH	D	296	N	D296N	Likely pathogenic	1	1	21	22
MUT:PAH:Asp315Tyr	PROT:P00439	PAH	D	315	Y	D315Y	Likely pathogenic	1	1	21	41
MUT:PAH:Asp338Tyr	PROT:P00439	PAH	D	338	Y	D338Y	Pathogenic	1	1	21	23
MUT:PAH:Asp338Val	PROT:P00439	PAH	D	338	V	D338V	Pathogenic	1	1	21	23
MUT:PAH:Asp394Ala	PROT:P00439	PAH	D	394	A	D394A	Likely pathogenic	1	1	21	17
MUT:PAH:Asp394Gly	PROT:P00439	PAH	D	394	G	D394G	Pathogenic	1	1	21	17
MUT:PAH:Asp394His	PROT:P00439	PAH	D	394	H	D394H	Likely pathogenic	1	1	21	17
MUT:PAH:Asp394Tyr	PROT:P00439	PAH	D	394	Y	D394Y	Likely pathogenic	1	1	21	17
MUT:PAH:Asp415Asn	PROT:P00439	PAH	D	415	N	D415N	Pathogenic	1	4	21	4
MUT:PAH:Asp415Tyr	PROT:P00439	PAH	D	415	Y	D415Y	Pathogenic	1	1	21	4
MUT:PAH:Asp415Val	PROT:P00439	PAH	D	415	V	D415V	Pathogenic	1	1	21	4
MUT:PAH:Asp435Val	PROT:P00439	PAH	D	435	V	D435V	Likely pathogenic	1	1	21	1
MUT:PAH:Asp75Asn	PROT:P00439	PAH	D	75	N	D75N	Likely pathogenic	1	1	21	12
MUT:PAH:Asp75Gly	PROT:P00439	PAH	D	75	G	D75G	Likely pathogenic	1	1	21	12
MUT:PAH:Asp75His	PROT:P00439	PAH	D	75	H	D75H	Likely pathogenic	1	3	21	12
MUT:PAH:Asp75Val	PROT:P00439	PAH	D	75	V	D75V	Likely pathogenic	1	1	21	12
MUT:PAH:Asp84Asn	PROT:P00439	PAH	D	84	N	D84N	Likely pathogenic	1	1	21	3
MUT:PAH:Asp84Tyr	PROT:P00439	PAH	D	84	Y	D84Y	Pathogenic	1	2	21	3
MUT:PAH:Cys203Gly	PROT:P00439	PAH	C	203	G	C203G	Likely pathogenic	1	1	21	4
MUT:PAH:Cys203Trp	PROT:P00439	PAH	C	203	W	C203W	Likely pathogenic	1	1	21	4
MUT:PAH:Cys203Tyr	PROT:P00439	PAH	C	203	Y	C203Y	Likely pathogenic	1	1	21	4
MUT:PAH:Cys217Arg	PROT:P00439	PAH	C	217	R	C217R	Likely pathogenic	1	1	21	18
MUT:PAH:Cys217Gly	PROT:P00439	PAH	C	217	G	C217G	Likely pathogenic	1	1	21	18
MUT:PAH:Cys217Phe	PROT:P00439	PAH	C	217	F	C217F	Likely pathogenic	1	1	21	18
MUT:PAH:Cys265Tyr	PROT:P00439	PAH	C	265	Y	C265Y	Likely pathogenic	1	1	21	9
MUT:PAH:Cys284Arg	PROT:P00439	PAH	C	284	R	C284R	Likely pathogenic	1	1	21	10
MUT:PAH:Cys284Tyr	PROT:P00439	PAH	C	284	Y	C284Y	Likely pathogenic	1	1	21	10
MUT:PAH:Cys334Ser	PROT:P00439	PAH	C	334	S	C334S	Likely pathogenic	1	1	21	27
MUT:PAH:Cys357Arg	PROT:P00439	PAH	C	357	R	C357R	Pathogenic/Likely pathogenic	1	1	21	4
MUT:PAH:Cys357Gly	PROT:P00439	PAH	C	357	G	C357G	Likely pathogenic	1	1	21	4
MUT:PAH:Gln172Arg	PROT:P00439	PAH	Q	172	R	Q172R	Likely pathogenic	1	1	21	6
MUT:PAH:Gln172His	PROT:P00439	PAH	Q	172	H	Q172H	Likely pathogenic	1	3	21	6
MUT:PAH:Gln226His	PROT:P00439	PAH	Q	226	H	Q226H	Pathogenic	1	1	21	27
MUT:PAH:Gln226Lys	PROT:P00439	PAH	Q	226	K	Q226K	Likely pathogenic	1	1	21	27
MUT:PAH:Gln232Glu	PROT:P00439	PAH	Q	232	E	Q232E	Likely pathogenic	1	1	21	33
MUT:PAH:Gln235Pro	PROT:P00439	PAH	Q	235	P	Q235P	Likely pathogenic	1	1	21	36
MUT:PAH:Gln267Arg	PROT:P00439	PAH	Q	267	R	Q267R	Pathogenic	1	1	21	7
MUT:PAH:Gln267Glu	PROT:P00439	PAH	Q	267	E	Q267E	Pathogenic	1	1	21	7
MUT:PAH:Gln267His	PROT:P00439	PAH	Q	267	H	Q267H	Likely pathogenic	1	1	21	7
MUT:PAH:Gln301His	PROT:P00439	PAH	Q	301	H	Q301H	Likely pathogenic	1	1	21	27
MUT:PAH:Gln301Pro	PROT:P00439	PAH	Q	301	P	Q301P	Pathogenic	1	1	21	27
MUT:PAH:Gln304Arg	PROT:P00439	PAH	Q	304	R	Q304R	Likely pathogenic	1	1	21	30
MUT:PAH:Gln304Lys	PROT:P00439	PAH	Q	304	K	Q304K	Likely pathogenic	1	1	21	30
MUT:PAH:Gln304Pro	PROT:P00439	PAH	Q	304	P	Q304P	Likely pathogenic	1	1	21	30
MUT:PAH:Gln336Arg	PROT:P00439	PAH	Q	336	R	Q336R	Likely pathogenic	1	1	21	25
MUT:PAH:Gln375Glu	PROT:P00439	PAH	Q	375	E	Q375E	Likely pathogenic	1	1	21	12
MUT:PAH:Gln375His	PROT:P00439	PAH	Q	375	H	Q375H	Likely pathogenic	1	1	21	12
MUT:PAH:Gln419Arg	PROT:P00439	PAH	Q	419	R	Q419R	Pathogenic	1	1	21	8
MUT:PAH:Gln429Lys	PROT:P00439	PAH	Q	429	K	Q429K	Likely pathogenic	1	1	21	7
MUT:PAH:Glu178Gly	PROT:P00439	PAH	E	178	G	E178G	Pathogenic	1	4	21	7
MUT:PAH:Glu178Lys	PROT:P00439	PAH	E	178	K	E178K	Pathogenic	1	2	21	7
MUT:PAH:Glu178Val	PROT:P00439	PAH	E	178	V	E178V	Likely pathogenic	1	1	21	7
MUT:PAH:Glu182Gly	PROT:P00439	PAH	E	182	G	E182G	Likely pathogenic	1	1	21	3
MUT:PAH:Glu182Lys	PROT:P00439	PAH	E	182	K	E182K	Pathogenic	1	1	21	3
MUT:PAH:Glu183Gln	PROT:P00439	PAH	E	183	Q	E183Q	Likely pathogenic	1	1	21	2
MUT:PAH:Glu183Gly	PROT:P00439	PAH	E	183	G	E183G	Pathogenic	1	1	21	2
MUT:PAH:Glu183Leu	PROT:P00439	PAH	E	183	L	E183L	Likely pathogenic	1	1	21	2
MUT:PAH:Glu205Ala	PROT:P00439	PAH	E	205	A	E205A	Likely pathogenic	1	1	21	6
MUT:PAH:Glu205Asp	PROT:P00439	PAH	E	205	D	E205D	Pathogenic/Likely pathogenic	1	1	21	6
MUT:PAH:Glu205Gly	PROT:P00439	PAH	E	205	G	E205G	Likely pathogenic	1	1	21	6
MUT:PAH:Glu205Lys	PROT:P00439	PAH	E	205	K	E205K	Likely pathogenic	1	1	21	6
MUT:PAH:Glu214Gly	PROT:P00439	PAH	E	214	G	E214G	Likely pathogenic	1	1	21	15
MUT:PAH:Glu221Gly	PROT:P00439	PAH	E	221	G	E221G	Likely pathogenic	1	1	21	22
MUT:PAH:Glu228Asp	PROT:P00439	PAH	E	228	D	E228D	Likely pathogenic	1	1	21	29
MUT:PAH:Glu280Ala	PROT:P00439	PAH	E	280	A	E280A	Pathogenic	1	1	21	6
MUT:PAH:Glu280Gln	PROT:P00439	PAH	E	280	Q	E280Q	Likely pathogenic	1	1	21	6
MUT:PAH:Glu280Gly	PROT:P00439	PAH	E	280	G	E280G	Pathogenic	1	1	21	6
MUT:PAH:Glu280Lys	PROT:P00439	PAH	E	280	K	E280K	Pathogenic	1	3	21	6
MUT:PAH:Glu286Lys	PROT:P00439	PAH	E	286	K	E286K	Pathogenic	1	1	21	12
MUT:PAH:Glu330Asp	PROT:P00439	PAH	E	330	D	E330D	Likely pathogenic	1	1	21	31
MUT:PAH:Glu368Lys	PROT:P00439	PAH	E	368	K	E368K	Likely pathogenic	1	1	21	5
MUT:PAH:Glu370Gly	PROT:P00439	PAH	E	370	G	E370G	Likely pathogenic	1	1	21	7
MUT:PAH:Glu390Gly	PROT:P00439	PAH	E	390	G	E390G	Pathogenic	1	4	21	21
MUT:PAH:Glu56Asp	PROT:P00439	PAH	E	56	D	E56D	Pathogenic	1	1	21	6
MUT:PAH:Glu66Lys	PROT:P00439	PAH	E	66	K	E66K	Likely pathogenic	1	1	21	16
MUT:PAH:Glu76Ala	PROT:P00439	PAH	E	76	A	E76A	Pathogenic	1	1	21	11
MUT:PAH:Glu76Gly	PROT:P00439	PAH	E	76	G	E76G	Pathogenic/Likely pathogenic	1	2	21	11
MUT:PAH:Glu78Lys	PROT:P00439	PAH	E	78	K	E78K	Likely pathogenic	1	1	21	9
MUT:PAH:Gly103Asp	PROT:P00439	PAH	G	103	D	G103D	Pathogenic	1	1	21	7
MUT:PAH:Gly103Ser	PROT:P00439	PAH	G	103	S	G103S	Likely pathogenic	1	1	21	7
MUT:PAH:Gly148Arg	PROT:P00439	PAH	G	148	R	G148R	Likely pathogenic	1	1	21	2
MUT:PAH:Gly148Asp	PROT:P00439	PAH	G	148	D	G148D	Likely pathogenic	1	1	21	2
MUT:PAH:Gly148Ser	PROT:P00439	PAH	G	148	S	G148S	Likely pathogenic	1	2	21	2
MUT:PAH:Gly148Val	PROT:P00439	PAH	G	148	V	G148V	Likely pathogenic	1	1	21	2
MUT:PAH:Gly171Ala	PROT:P00439	PAH	G	171	A	G171A	Likely pathogenic	1	1	21	5
MUT:PAH:Gly171Arg	PROT:P00439	PAH	G	171	R	G171R	Likely pathogenic	1	1	21	5
MUT:PAH:Gly171Glu	PROT:P00439	PAH	G	171	E	G171E	Likely pathogenic	1	1	21	5
MUT:PAH:Gly188Asp	PROT:P00439	PAH	G	188	D	G188D	Likely pathogenic	1	1	21	3
MUT:PAH:Gly188Val	PROT:P00439	PAH	G	188	V	G188V	Likely pathogenic	1	1	21	3
MUT:PAH:Gly218Val	PROT:P00439	PAH	G	218	V	G218V	Pathogenic	1	2	21	19
MUT:PAH:Gly239Ala	PROT:P00439	PAH	G	239	A	G239A	Pathogenic	1	1	21	35
MUT:PAH:Gly239Asp	PROT:P00439	PAH	G	239	D	G239D	Pathogenic	1	1	21	35
MUT:PAH:Gly239Ser	PROT:P00439	PAH	G	239	S	G239S	Pathogenic	1	1	21	35
MUT:PAH:Gly239Val	PROT:P00439	PAH	G	239	V	G239V	Likely pathogenic	1	1	21	35
MUT:PAH:Gly247Arg	PROT:P00439	PAH	G	247	R	G247R	Likely pathogenic	1	1	21	27
MUT:PAH:Gly247Ser	PROT:P00439	PAH	G	247	S	G247S	Likely pathogenic	1	1	21	27
MUT:PAH:Gly247Val	PROT:P00439	PAH	G	247	V	G247V	Pathogenic	1	1	21	27
MUT:PAH:Gly257Ser	PROT:P00439	PAH	G	257	S	G257S	Likely pathogenic	1	1	21	17
MUT:PAH:Gly257Val	PROT:P00439	PAH	G	257	V	G257V	Pathogenic	1	1	21	17
MUT:PAH:Gly289Arg	PROT:P00439	PAH	G	289	R	G289R	Pathogenic	1	1	21	15
MUT:PAH:Gly289Glu	PROT:P00439	PAH	G	289	E	G289E	Pathogenic	1	1	21	15
MUT:PAH:Gly307Asp	PROT:P00439	PAH	G	307	D	G307D	Likely pathogenic	1	1	21	33
MUT:PAH:Gly307Val	PROT:P00439	PAH	G	307	V	G307V	Likely pathogenic	1	1	21	33
MUT:PAH:Gly312Asp	PROT:P00439	PAH	G	312	D	G312D	Likely pathogenic	1	1	21	38
MUT:PAH:Gly312Cys	PROT:P00439	PAH	G	312	C	G312C	Likely pathogenic	1	1	21	38
MUT:PAH:Gly312Val	PROT:P00439	PAH	G	312	V	G312V	Pathogenic	1	1	21	38
MUT:PAH:Gly332Arg	PROT:P00439	PAH	G	332	R	G332R	Likely pathogenic	1	1	21	29
MUT:PAH:Gly344Asp	PROT:P00439	PAH	G	344	D	G344D	Likely pathogenic	1	1	21	17
MUT:PAH:Gly344Ser	PROT:P00439	PAH	G	344	S	G344S	Likely pathogenic	1	1	21	17
MUT:PAH:Gly346Arg	PROT:P00439	PAH	G	346	R	G346R	Likely pathogenic	1	1	21	15
MUT:PAH:Gly346Glu	PROT:P00439	PAH	G	346	E	G346E	Likely pathogenic	1	1	21	15
MUT:PAH:Gly352Arg	PROT:P00439	PAH	G	352	R	G352R	Likely pathogenic	1	1	21	9
MUT:PAH:Gly352Cys	PROT:P00439	PAH	G	352	C	G352C	Pathogenic	1	1	21	9
MUT:PAH:Gly46Arg	PROT:P00439	PAH	G	46	R	G46R	Likely pathogenic	1	1	21	4
MUT:PAH:Gly46Ser	PROT:P00439	PAH	G	46	S	G46S	Pathogenic	1	1	21	4
MUT:PAH:His107Arg	PROT:P00439	PAH	H	107	R	H107R	Pathogenic	1	1	21	3
MUT:PAH:His107Pro	PROT:P00439	PAH	H	107	P	H107P	Likely pathogenic	1	1	21	3
MUT:PAH:His170Asp	PROT:P00439	PAH	H	170	D	H170D	Pathogenic	1	1	21	4
MUT:PAH:His170Gln	PROT:P00439	PAH	H	170	Q	H170Q	Pathogenic/Likely pathogenic	1	1	21	4
MUT:PAH:His170Pro	PROT:P00439	PAH	H	170	P	H170P	Pathogenic/Likely pathogenic	1	1	21	4
MUT:PAH:His201Arg	PROT:P00439	PAH	H	201	R	H201R	Pathogenic	1	2	21	2
MUT:PAH:His201Gln	PROT:P00439	PAH	H	201	Q	H201Q	Likely pathogenic	1	1	21	2
MUT:PAH:His201Tyr	PROT:P00439	PAH	H	201	Y	H201Y	Likely pathogenic	1	2	21	2
MUT:PAH:His220Pro	PROT:P00439	PAH	H	220	P	H220P	Likely pathogenic	1	1	21	21
MUT:PAH:His271Arg	PROT:P00439	PAH	H	271	R	H271R	Likely pathogenic	1	1	21	3
MUT:PAH:His271Asn	PROT:P00439	PAH	H	271	N	H271N	Pathogenic	1	1	21	3
MUT:PAH:His271Gln	PROT:P00439	PAH	H	271	Q	H271Q	Likely pathogenic	1	1	21	3
MUT:PAH:His290Gln	PROT:P00439	PAH	H	290	Q	H290Q	Likely pathogenic	1	1	21	16
MUT:PAH:His290Tyr	PROT:P00439	PAH	H	290	Y	H290Y	Likely pathogenic	1	1	21	16
MUT:PAH:Ile102Thr	PROT:P00439	PAH	I	102	T	I102T	Pathogenic/Likely pathogenic	1	1	21	6
MUT:PAH:Ile164Thr	PROT:P00439	PAH	I	164	T	I164T	Pathogenic	1	1	21	2
MUT:PAH:Ile164Val	PROT:P00439	PAH	I	164	V	I164V	Likely pathogenic	1	2	21	2
MUT:PAH:Ile174Asn	PROT:P00439	PAH	I	174	N	I174N	Likely pathogenic	1	1	21	8
MUT:PAH:Ile174Thr	PROT:P00439	PAH	I	174	T	I174T	Pathogenic	1	1	21	8
MUT:PAH:Ile174Val	PROT:P00439	PAH	I	174	V	I174V	Likely pathogenic	1	1	21	8
MUT:PAH:Ile224Leu	PROT:P00439	PAH	I	224	L	I224L	Likely pathogenic	1	1	21	25
MUT:PAH:Ile224Thr	PROT:P00439	PAH	I	224	T	I224T	Pathogenic/Likely pathogenic	1	1	21	25
MUT:PAH:Ile224Val	PROT:P00439	PAH	I	224	V	I224V	Likely pathogenic	1	1	21	25
MUT:PAH:Ile269Asn	PROT:P00439	PAH	I	269	N	I269N	Likely pathogenic	1	1	21	5
MUT:PAH:Ile269Leu	PROT:P00439	PAH	I	269	L	I269L	Pathogenic	1	1	21	5
MUT:PAH:Ile269Val	PROT:P00439	PAH	I	269	V	I269V	Likely pathogenic	1	1	21	5
MUT:PAH:Ile283Asn	PROT:P00439	PAH	I	283	N	I283N	Pathogenic	1	1	21	9
MUT:PAH:Ile283Phe	PROT:P00439	PAH	I	283	F	I283F	Pathogenic	1	1	21	9
MUT:PAH:Ile283Val	PROT:P00439	PAH	I	283	V	I283V	Likely pathogenic	1	1	21	9
MUT:PAH:Ile306Val	PROT:P00439	PAH	I	306	V	I306V	Pathogenic	1	2	21	32
MUT:PAH:Ile324Asn	PROT:P00439	PAH	I	324	N	I324N	Pathogenic	1	1	21	37
MUT:PAH:Ile406Arg	PROT:P00439	PAH	I	406	R	I406R	Likely pathogenic	1	1	21	5
MUT:PAH:Ile406Met	PROT:P00439	PAH	I	406	M	I406M	Likely pathogenic	1	1	21	5
MUT:PAH:Ile406Thr	PROT:P00439	PAH	I	406	T	I406T	Likely pathogenic	1	1	21	5
MUT:PAH:Ile406Val	PROT:P00439	PAH	I	406	V	I406V	Likely pathogenic	1	1	21	5
MUT:PAH:Ile421Ser	PROT:P00439	PAH	I	421	S	I421S	Likely pathogenic	1	1	21	10
MUT:PAH:Ile421Thr	PROT:P00439	PAH	I	421	T	I421T	Likely pathogenic	1	1	21	10
MUT:PAH:Ile65Asn	PROT:P00439	PAH	I	65	N	I65N	Likely pathogenic	1	1	21	15
MUT:PAH:Ile65Ser	PROT:P00439	PAH	I	65	S	I65S	Pathogenic	1	1	21	15
MUT:PAH:Ile65Thr	PROT:P00439	PAH	I	65	T	I65T	Pathogenic	1	2	21	15
MUT:PAH:Ile65Val	PROT:P00439	PAH	I	65	V	I65V	Pathogenic	1	1	21	15
MUT:PAH:Ile94Ser	PROT:P00439	PAH	I	94	S	I94S	Pathogenic/Likely pathogenic	1	1	21	2
MUT:PAH:Ile95Phe	PROT:P00439	PAH	I	95	F	I95F	Likely pathogenic	1	1	21	1
MUT:PAH:Leu194Arg	PROT:P00439	PAH	L	194	R	L194R	Likely pathogenic	1	1	21	1
MUT:PAH:Leu194Pro	PROT:P00439	PAH	L	194	P	L194P	Likely pathogenic	1	1	21	1
MUT:PAH:Leu197Phe	PROT:P00439	PAH	L	197	F	L197F	Likely pathogenic	1	1	21	2
MUT:PAH:Leu212Pro	PROT:P00439	PAH	L	212	P	L212P	Likely pathogenic	1	1	21	13
MUT:PAH:Leu213Pro	PROT:P00439	PAH	L	213	P	L213P	Pathogenic	1	1	21	14
MUT:PAH:Leu227Gln	PROT:P00439	PAH	L	227	Q	L227Q	Likely pathogenic	1	1	21	28
MUT:PAH:Leu227Val	PROT:P00439	PAH	L	227	V	L227V	Likely pathogenic	1	1	21	28
MUT:PAH:Leu242Phe	PROT:P00439	PAH	L	242	F	L242F	Pathogenic	1	1	21	32
MUT:PAH:Leu249His	PROT:P00439	PAH	L	249	H	L249H	Likely pathogenic	1	1	21	25
MUT:PAH:Leu249Phe	PROT:P00439	PAH	L	249	F	L249F	Pathogenic	1	1	21	25
MUT:PAH:Leu255Ser	PROT:P00439	PAH	L	255	S	L255S	Pathogenic/Likely pathogenic	1	1	21	19
MUT:PAH:Leu258Pro	PROT:P00439	PAH	L	258	P	L258P	Likely pathogenic	1	1	21	16
MUT:PAH:Leu287Met	PROT:P00439	PAH	L	287	M	L287M	Likely pathogenic	1	1	21	13
MUT:PAH:Leu287Val	PROT:P00439	PAH	L	287	V	L287V	Likely pathogenic	1	1	21	13
MUT:PAH:Leu293Met	PROT:P00439	PAH	L	293	M	L293M	Likely pathogenic	1	1	21	19
MUT:PAH:Leu293Ser	PROT:P00439	PAH	L	293	S	L293S	Likely pathogenic	1	1	21	19
MUT:PAH:Leu308Phe	PROT:P00439	PAH	L	308	F	L308F	Pathogenic	1	2	21	34
MUT:PAH:Leu308Val	PROT:P00439	PAH	L	308	V	L308V	Likely pathogenic	1	1	21	34
MUT:PAH:Leu311Pro	PROT:P00439	PAH	L	311	P	L311P	Pathogenic	1	1	21	37
MUT:PAH:Leu333Phe	PROT:P00439	PAH	L	333	F	L333F	Pathogenic	1	2	21	28
MUT:PAH:Leu333Pro	PROT:P00439	PAH	L	333	P	L333P	Likely pathogenic	1	1	21	28
MUT:PAH:Leu347Phe	PROT:P00439	PAH	L	347	F	L347F	Likely pathogenic	1	1	21	14
MUT:PAH:Leu348Pro	PROT:P00439	PAH	L	348	P	L348P	Likely pathogenic	1	1	21	13
MUT:PAH:Leu348Val	PROT:P00439	PAH	L	348	V	L348V	Pathogenic	1	3	21	13
MUT:PAH:Leu358Phe	PROT:P00439	PAH	L	358	F	L358F	Likely pathogenic	1	2	21	3
MUT:PAH:Leu369Val	PROT:P00439	PAH	L	369	V	L369V	Likely pathogenic	1	1	21	6
MUT:PAH:Leu37Pro	PROT:P00439	PAH	L	37	P	L37P	Likely pathogenic	1	1	21	13
MUT:PAH:Leu385Pro	PROT:P00439	PAH	L	385	P	L385P	Likely pathogenic	1	1	21	22
MUT:PAH:Leu41Phe	PROT:P00439	PAH	L	41	F	L41F	Pathogenic	1	1	21	9
MUT:PAH:Leu41Pro	PROT:P00439	PAH	L	41	P	L41P	Likely pathogenic	1	1	21	9
MUT:PAH:Leu430Pro	PROT:P00439	PAH	L	430	P	L430P	Likely pathogenic	1	1	21	6
MUT:PAH:Leu444Phe	PROT:P00439	PAH	L	444	F	L444F	Likely pathogenic	1	1	21	8
MUT:PAH:Leu48Ser	PROT:P00439	PAH	L	48	S	L48S	Pathogenic	1	2	21	2
MUT:PAH:Leu52Ser	PROT:P00439	PAH	L	52	S	L52S	Likely pathogenic	1	1	21	2
MUT:PAH:Leu54Ser	PROT:P00439	PAH	L	54	S	L54S	Likely pathogenic	1	1	21	4
MUT:PAH:Leu62Pro	PROT:P00439	PAH	L	62	P	L62P	Likely pathogenic	1	1	21	12
MUT:PAH:Leu98Ser	PROT:P00439	PAH	L	98	S	L98S	Likely pathogenic	1	3	21	2
MUT:PAH:Leu98Val	PROT:P00439	PAH	L	98	V	L98V	Likely pathogenic	1	1	21	2
MUT:PAH:Lys184Asn	PROT:P00439	PAH	K	184	N	K184N	Likely pathogenic	1	1	21	1
MUT:PAH:Lys274Glu	PROT:P00439	PAH	K	274	E	K274E	Likely benign	0	1	21	0
MUT:PAH:Lys320Asn	PROT:P00439	PAH	K	320	N	K320N	Pathogenic	1	1	21	41
MUT:PAH:Lys341Asn	PROT:P00439	PAH	K	341	N	K341N	Likely pathogenic	1	1	21	20
MUT:PAH:Lys341Thr	PROT:P00439	PAH	K	341	T	K341T	Likely pathogenic	1	1	21	20
MUT:PAH:Lys361Gln	PROT:P00439	PAH	K	361	Q	K361Q	Likely pathogenic	1	1	21	0
MUT:PAH:Lys396Arg	PROT:P00439	PAH	K	396	R	K396R	Likely pathogenic	1	2	21	15
MUT:PAH:Lys42Arg	PROT:P00439	PAH	K	42	R	K42R	Likely pathogenic	1	1	21	8
MUT:PAH:Lys42Ile	PROT:P00439	PAH	K	42	I	K42I	Likely pathogenic	1	1	21	8
MUT:PAH:Met1Arg	PROT:P00439	PAH	M	1	R	M1R	Pathogenic	1	1	21	15
MUT:PAH:Met1Ile	PROT:P00439	PAH	M	1	I	M1I	Pathogenic	1	1	21	15
MUT:PAH:Met1Leu	PROT:P00439	PAH	M	1	L	M1L	Pathogenic	1	1	21	15
MUT:PAH:Met1Thr	PROT:P00439	PAH	M	1	T	M1T	Likely pathogenic	1	1	21	15
MUT:PAH:Met1Val	PROT:P00439	PAH	M	1	V	M1V	Pathogenic	1	2	21	15
MUT:PAH:Met276Arg	PROT:P00439	PAH	M	276	R	M276R	Likely pathogenic	1	1	21	2
MUT:PAH:Met276Lys	PROT:P00439	PAH	M	276	K	M276K	Likely pathogenic	1	1	21	2
MUT:PAH:Met276Thr	PROT:P00439	PAH	M	276	T	M276T	Pathogenic/Likely pathogenic	1	1	21	2
MUT:PAH:Met276Val	PROT:P00439	PAH	M	276	V	M276V	Likely pathogenic	1	1	21	2
MUT:PAH:Phe121Leu	PROT:P00439	PAH	F	121	L	F121L	Pathogenic	1	1	21	4
MUT:PAH:Phe121Val	PROT:P00439	PAH	F	121	V	F121V	Likely pathogenic	1	1	21	4
MUT:PAH:Phe161Ser	PROT:P00439	PAH	F	161	S	F161S	Pathogenic	1	1	21	2
MUT:PAH:Phe233Ile	PROT:P00439	PAH	F	233	I	F233I	Pathogenic	1	1	21	34
MUT:PAH:Phe233Leu	PROT:P00439	PAH	F	233	L	F233L	Pathogenic	1	1	21	34
MUT:PAH:Phe240Ser	PROT:P00439	PAH	F	240	S	F240S	Likely pathogenic	1	1	21	34
MUT:PAH:Phe240Val	PROT:P00439	PAH	F	240	V	F240V	Likely pathogenic	1	1	21	34
MUT:PAH:Phe260Leu	PROT:P00439	PAH	F	260	L	F260L	Likely pathogenic	1	1	21	14
MUT:PAH:Phe263Ser	PROT:P00439	PAH	F	263	S	F263S	Pathogenic	1	1	21	11
MUT:PAH:Phe299Cys	PROT:P00439	PAH	F	299	C	F299C	Pathogenic	1	2	21	25
MUT:PAH:Phe331Cys	PROT:P00439	PAH	F	331	C	F331C	Pathogenic/Likely pathogenic	1	1	21	30
MUT:PAH:Phe331Ser	PROT:P00439	PAH	F	331	S	F331S	Pathogenic/Likely pathogenic	1	1	21	30
MUT:PAH:Phe382Leu	PROT:P00439	PAH	F	382	L	F382L	Pathogenic	1	1	21	19
MUT:PAH:Phe392Ile	PROT:P00439	PAH	F	392	I	F392I	Pathogenic	1	2	21	19
MUT:PAH:Phe392Ser	PROT:P00439	PAH	F	392	S	F392S	Likely pathogenic	1	1	21	19
MUT:PAH:Phe39Leu	PROT:P00439	PAH	F	39	L	F39L	Pathogenic	1	2	21	11
MUT:PAH:Phe402Cys	PROT:P00439	PAH	F	402	C	F402C	Likely pathogenic	1	1	21	9
MUT:PAH:Phe402Leu	PROT:P00439	PAH	F	402	L	F402L	Likely pathogenic	1	1	21	9
MUT:PAH:Phe402Val	PROT:P00439	PAH	F	402	V	F402V	Likely pathogenic	1	1	21	9
MUT:PAH:Phe410Cys	PROT:P00439	PAH	F	410	C	F410C	Likely pathogenic	1	1	21	1
MUT:PAH:Phe410Ile	PROT:P00439	PAH	F	410	I	F410I	Likely pathogenic	1	1	21	1
MUT:PAH:Phe410Ser	PROT:P00439	PAH	F	410	S	F410S	Pathogenic	1	1	21	1
MUT:PAH:Phe55Leu	PROT:P00439	PAH	F	55	L	F55L	Pathogenic/Likely pathogenic	1	3	21	5
MUT:PAH:Phe55Ser	PROT:P00439	PAH	F	55	S	F55S	Likely pathogenic	1	1	21	5
MUT:PAH:Pro119Ser	PROT:P00439	PAH	P	119	S	P119S	Likely pathogenic	1	1	21	2
MUT:PAH:Pro122Gln	PROT:P00439	PAH	P	122	Q	P122Q	Pathogenic	1	1	21	5
MUT:PAH:Pro122Ser	PROT:P00439	PAH	P	122	S	P122S	Likely pathogenic	1	1	21	5
MUT:PAH:Pro147Leu	PROT:P00439	PAH	P	147	L	P147L	Likely pathogenic	1	1	21	3
MUT:PAH:Pro147Ser	PROT:P00439	PAH	P	147	S	P147S	Likely pathogenic	1	1	21	3
MUT:PAH:Pro175Ser	PROT:P00439	PAH	P	175	S	P175S	Likely pathogenic	1	1	21	9
MUT:PAH:Pro211Gln	PROT:P00439	PAH	P	211	Q	P211Q	Likely pathogenic	1	1	21	12
MUT:PAH:Pro211Leu	PROT:P00439	PAH	P	211	L	P211L	Pathogenic/Likely pathogenic	1	1	21	12
MUT:PAH:Pro211Thr	PROT:P00439	PAH	P	211	T	P211T	Pathogenic	1	3	21	12
MUT:PAH:Pro225Ala	PROT:P00439	PAH	P	225	A	P225A	Likely pathogenic	1	1	21	26
MUT:PAH:Pro225Leu	PROT:P00439	PAH	P	225	L	P225L	Likely pathogenic	1	1	21	26
MUT:PAH:Pro225Thr	PROT:P00439	PAH	P	225	T	P225T	Pathogenic	1	2	21	26
MUT:PAH:Pro244Leu	PROT:P00439	PAH	P	244	L	P244L	Likely pathogenic	1	1	21	30
MUT:PAH:Pro244Ser	PROT:P00439	PAH	P	244	S	P244S	Likely pathogenic	1	1	21	30
MUT:PAH:Pro275Arg	PROT:P00439	PAH	P	275	R	P275R	Likely pathogenic	1	1	21	1
MUT:PAH:Pro275Leu	PROT:P00439	PAH	P	275	L	P275L	Pathogenic	1	1	21	1
MUT:PAH:Pro275Ser	PROT:P00439	PAH	P	275	S	P275S	Pathogenic	1	1	21	1
MUT:PAH:Pro279Ala	PROT:P00439	PAH	P	279	A	P279A	Pathogenic/Likely pathogenic	1	1	21	5
MUT:PAH:Pro279Cys	PROT:P00439	PAH	P	279	C	P279C	Likely pathogenic	1	1	21	5
MUT:PAH:Pro279Leu	PROT:P00439	PAH	P	279	L	P279L	Pathogenic/Likely pathogenic	1	1	21	5
MUT:PAH:Pro279Thr	PROT:P00439	PAH	P	279	T	P279T	Pathogenic	1	1	21	5
MUT:PAH:Pro281Ala	PROT:P00439	PAH	P	281	A	P281A	Likely pathogenic	1	1	21	7
MUT:PAH:Pro281Arg	PROT:P00439	PAH	P	281	R	P281R	Pathogenic	1	1	21	7
MUT:PAH:Pro281His	PROT:P00439	PAH	P	281	H	P281H	Pathogenic/Likely pathogenic	1	1	21	7
MUT:PAH:Pro281Leu	PROT:P00439	PAH	P	281	L	P281L	Likely pathogenic	1	2	21	7
MUT:PAH:Pro281Ser	PROT:P00439	PAH	P	281	S	P281S	Likely pathogenic	1	1	21	7
MUT:PAH:Pro292Leu	PROT:P00439	PAH	P	292	L	P292L	Likely pathogenic	1	1	21	18
MUT:PAH:Pro314His	PROT:P00439	PAH	P	314	H	P314H	Pathogenic	1	1	21	40
MUT:PAH:Pro314Ser	PROT:P00439	PAH	P	314	S	P314S	Pathogenic	1	1	21	40
MUT:PAH:Pro314Thr	PROT:P00439	PAH	P	314	T	P314T	Pathogenic	1	1	21	40
MUT:PAH:Pro362Arg	PROT:P00439	PAH	P	362	R	P362R	Likely pathogenic	1	1	21	1
MUT:PAH:Pro362Leu	PROT:P00439	PAH	P	362	L	P362L	Pathogenic	1	1	21	1
MUT:PAH:Pro362Ser	PROT:P00439	PAH	P	362	S	P362S	Likely pathogenic	1	1	21	1
MUT:PAH:Pro362Thr	PROT:P00439	PAH	P	362	T	P362T	Pathogenic	1	1	21	1
MUT:PAH:Pro366His	PROT:P00439	PAH	P	366	H	P366H	Likely pathogenic	1	1	21	3
MUT:PAH:Pro366Ser	PROT:P00439	PAH	P	366	S	P366S	Likely pathogenic	1	1	21	3
MUT:PAH:Pro407Leu	PROT:P00439	PAH	P	407	L	P407L	Likely pathogenic	1	1	21	4
MUT:PAH:Pro407Ser	PROT:P00439	PAH	P	407	S	P407S	Pathogenic	1	1	21	4
MUT:PAH:Pro407Thr	PROT:P00439	PAH	P	407	T	P407T	Likely pathogenic	1	1	21	4
MUT:PAH:Pro416Gln	PROT:P00439	PAH	P	416	Q	P416Q	Likely pathogenic	1	1	21	5
MUT:PAH:Pro416Leu	PROT:P00439	PAH	P	416	L	P416L	Pathogenic	1	1	21	5
MUT:PAH:Pro416Thr	PROT:P00439	PAH	P	416	T	P416T	Likely pathogenic	1	1	21	5
MUT:PAH:Pro69Ser	PROT:P00439	PAH	P	69	S	P69S	Likely pathogenic	1	1	21	18
MUT:PAH:Pro89Ser	PROT:P00439	PAH	P	89	S	P89S	Pathogenic/Likely pathogenic	1	1	21	2
MUT:PAH:Pro89Thr	PROT:P00439	PAH	P	89	T	P89T	Likely pathogenic	1	1	21	2
MUT:PAH:Ser110Leu	PROT:P00439	PAH	S	110	L	S110L	Likely pathogenic	1	1	21	0
MUT:PAH:Ser231Phe	PROT:P00439	PAH	S	231	F	S231F	Pathogenic	1	1	21	32
MUT:PAH:Ser231Pro	PROT:P00439	PAH	S	231	P	S231P	Pathogenic	1	1	21	32
MUT:PAH:Ser250Phe	PROT:P00439	PAH	S	250	F	S250F	Likely pathogenic	1	1	21	24
MUT:PAH:Ser273Phe	PROT:P00439	PAH	S	273	F	S273F	Likely pathogenic	1	1	21	1
MUT:PAH:Ser303Ala	PROT:P00439	PAH	S	303	A	S303A	Likely pathogenic	1	1	21	29
MUT:PAH:Ser303Pro	PROT:P00439	PAH	S	303	P	S303P	Likely pathogenic	1	1	21	29
MUT:PAH:Ser310Cys	PROT:P00439	PAH	S	310	C	S310C	Likely pathogenic	1	1	21	36
MUT:PAH:Ser310Phe	PROT:P00439	PAH	S	310	F	S310F	Pathogenic	1	1	21	36
MUT:PAH:Ser310Tyr	PROT:P00439	PAH	S	310	Y	S310Y	Pathogenic	1	1	21	36
MUT:PAH:Ser339Phe	PROT:P00439	PAH	S	339	F	S339F	Likely pathogenic	1	1	21	22
MUT:PAH:Ser349Ala	PROT:P00439	PAH	S	349	A	S349A	Pathogenic/Likely pathogenic	1	1	21	12
MUT:PAH:Ser349Leu	PROT:P00439	PAH	S	349	L	S349L	Pathogenic	1	1	21	12
MUT:PAH:Ser349Pro	PROT:P00439	PAH	S	349	P	S349P	Pathogenic/Likely pathogenic	1	1	21	12
MUT:PAH:Ser350Cys	PROT:P00439	PAH	S	350	C	S350C	Likely pathogenic	1	1	21	11
MUT:PAH:Ser350Thr	PROT:P00439	PAH	S	350	T	S350T	Likely pathogenic	1	1	21	11
MUT:PAH:Ser350Tyr	PROT:P00439	PAH	S	350	Y	S350Y	Pathogenic/Likely pathogenic	1	1	21	11
MUT:PAH:Ser359Leu	PROT:P00439	PAH	S	359	L	S359L	Likely pathogenic	1	1	21	2
MUT:PAH:Ser391Ile	PROT:P00439	PAH	S	391	I	S391I	Pathogenic/Likely pathogenic	1	1	21	20
MUT:PAH:Ser391Thr	PROT:P00439	PAH	S	391	T	S391T	Likely pathogenic	1	1	21	20
MUT:PAH:Ser67Ala	PROT:P00439	PAH	S	67	A	S67A	Pathogenic	1	1	21	17
MUT:PAH:Ser67Pro	PROT:P00439	PAH	S	67	P	S67P	Pathogenic	1	1	21	17
MUT:PAH:Ser67Tyr	PROT:P00439	PAH	S	67	Y	S67Y	Likely pathogenic	1	1	21	17
MUT:PAH:Ser70Phe	PROT:P00439	PAH	S	70	F	S70F	Likely pathogenic	1	1	21	17
MUT:PAH:Ser70Pro	PROT:P00439	PAH	S	70	P	S70P	Likely pathogenic	1	1	21	17
MUT:PAH:Ser87Arg	PROT:P00439	PAH	S	87	R	S87R	Pathogenic	1	3	21	0
MUT:PAH:Thr186Ala	PROT:P00439	PAH	T	186	A	T186A	Pathogenic	1	1	21	1
MUT:PAH:Thr186Ile	PROT:P00439	PAH	T	186	I	T186I	Likely pathogenic	1	1	21	1
MUT:PAH:Thr238Ala	PROT:P00439	PAH	T	238	A	T238A	Likely pathogenic	1	1	21	36
MUT:PAH:Thr238Ile	PROT:P00439	PAH	T	238	I	T238I	Pathogenic	1	1	21	36
MUT:PAH:Thr238Pro	PROT:P00439	PAH	T	238	P	T238P	Likely pathogenic	1	1	21	36
MUT:PAH:Thr266Ile	PROT:P00439	PAH	T	266	I	T266I	Likely pathogenic	1	1	21	8
MUT:PAH:Thr266Pro	PROT:P00439	PAH	T	266	P	T266P	Likely pathogenic	1	1	21	8
MUT:PAH:Thr278Ala	PROT:P00439	PAH	T	278	A	T278A	Likely pathogenic	1	1	21	4
MUT:PAH:Thr278Asn	PROT:P00439	PAH	T	278	N	T278N	Pathogenic	1	1	21	4
MUT:PAH:Thr278Ile	PROT:P00439	PAH	T	278	I	T278I	Pathogenic	1	1	21	4
MUT:PAH:Thr278Ser	PROT:P00439	PAH	T	278	S	T278S	Likely pathogenic	1	1	21	4
MUT:PAH:Thr328Ala	PROT:P00439	PAH	T	328	A	T328A	Likely pathogenic	1	1	21	33
MUT:PAH:Thr372Arg	PROT:P00439	PAH	T	372	R	T372R	Likely pathogenic	1	1	21	9
MUT:PAH:Thr372Ser	PROT:P00439	PAH	T	372	S	T372S	Likely pathogenic	1	1	21	9
MUT:PAH:Thr380Met	PROT:P00439	PAH	T	380	M	T380M	Pathogenic	1	5	21	17
MUT:PAH:Thr418Asn	PROT:P00439	PAH	T	418	N	T418N	Pathogenic	1	1	21	7
MUT:PAH:Thr418Ile	PROT:P00439	PAH	T	418	I	T418I	Likely pathogenic	1	1	21	7
MUT:PAH:Thr418Pro	PROT:P00439	PAH	T	418	P	T418P	Pathogenic	1	1	21	7
MUT:PAH:Thr81Asn	PROT:P00439	PAH	T	81	N	T81N	Likely pathogenic	1	1	21	6
MUT:PAH:Thr81Pro	PROT:P00439	PAH	T	81	P	T81P	Likely pathogenic	1	1	21	6
MUT:PAH:Thr92Ile	PROT:P00439	PAH	T	92	I	T92I	Pathogenic/Likely pathogenic	1	1	21	0
MUT:PAH:Trp187Arg	PROT:P00439	PAH	W	187	R	W187R	Likely pathogenic	1	1	21	2
MUT:PAH:Trp187Cys	PROT:P00439	PAH	W	187	C	W187C	Likely pathogenic	1	1	21	2
MUT:PAH:Trp326Ser	PROT:P00439	PAH	W	326	S	W326S	Likely pathogenic	1	1	21	35
MUT:PAH:Tyr154Cys	PROT:P00439	PAH	Y	154	C	Y154C	Likely pathogenic	1	1	21	4
MUT:PAH:Tyr154His	PROT:P00439	PAH	Y	154	H	Y154H	Likely pathogenic	1	1	21	4
MUT:PAH:Tyr154Phe	PROT:P00439	PAH	Y	154	F	Y154F	Likely pathogenic	1	1	21	4
MUT:PAH:Tyr179Asn	PROT:P00439	PAH	Y	179	N	Y179N	Likely pathogenic	1	1	21	6
MUT:PAH:Tyr179His	PROT:P00439	PAH	Y	179	H	Y179H	Likely pathogenic	1	1	21	6
MUT:PAH:Tyr204Cys	PROT:P00439	PAH	Y	204	C	Y204C	Pathogenic	1	1	21	5
MUT:PAH:Tyr206Cys	PROT:P00439	PAH	Y	206	C	Y206C	Likely pathogenic	1	1	21	7
MUT:PAH:Tyr268Cys	PROT:P00439	PAH	Y	268	C	Y268C	Likely pathogenic	1	1	21	6
MUT:PAH:Tyr277Asp	PROT:P00439	PAH	Y	277	D	Y277D	Pathogenic	1	2	21	3
MUT:PAH:Tyr277Cys	PROT:P00439	PAH	Y	277	C	Y277C	Pathogenic	1	1	21	3
MUT:PAH:Tyr277His	PROT:P00439	PAH	Y	277	H	Y277H	Likely pathogenic	1	1	21	3
MUT:PAH:Tyr325Cys	PROT:P00439	PAH	Y	325	C	Y325C	Likely pathogenic	1	1	21	36
MUT:PAH:Tyr343Asn	PROT:P00439	PAH	Y	343	N	Y343N	Likely pathogenic	1	1	21	18
MUT:PAH:Tyr343Asp	PROT:P00439	PAH	Y	343	D	Y343D	Likely pathogenic	1	1	21	18
MUT:PAH:Tyr343Cys	PROT:P00439	PAH	Y	343	C	Y343C	Pathogenic/Likely pathogenic	1	1	21	18
MUT:PAH:Tyr377Asp	PROT:P00439	PAH	Y	377	D	Y377D	Likely pathogenic	1	1	21	14
MUT:PAH:Tyr377Cys	PROT:P00439	PAH	Y	377	C	Y377C	Likely pathogenic	1	1	21	14
MUT:PAH:Tyr386Asp	PROT:P00439	PAH	Y	386	D	Y386D	Likely pathogenic	1	1	21	23
MUT:PAH:Tyr386Cys	PROT:P00439	PAH	Y	386	C	Y386C	Pathogenic	1	3	21	23
MUT:PAH:Tyr387Asp	PROT:P00439	PAH	Y	387	D	Y387D	Likely pathogenic	1	1	21	24
MUT:PAH:Tyr387His	PROT:P00439	PAH	Y	387	H	Y387H	Likely pathogenic	1	2	21	24
MUT:PAH:Tyr414Cys	PROT:P00439	PAH	Y	414	C	Y414C	Pathogenic	1	3	21	3
MUT:PAH:Tyr417Asn	PROT:P00439	PAH	Y	417	N	Y417N	Likely pathogenic	1	1	21	6
MUT:PAH:Tyr417Asp	PROT:P00439	PAH	Y	417	D	Y417D	Likely pathogenic	1	1	21	6
MUT:PAH:Tyr417Cys	PROT:P00439	PAH	Y	417	C	Y417C	Likely pathogenic	1	1	21	6
MUT:PAH:Val177Ala	PROT:P00439	PAH	V	177	A	V177A	Likely pathogenic	1	1	21	8
MUT:PAH:Val177Leu	PROT:P00439	PAH	V	177	L	V177L	Pathogenic	1	2	21	8
MUT:PAH:Val177Met	PROT:P00439	PAH	V	177	M	V177M	Pathogenic	1	3	21	8
MUT:PAH:Val190Ala	PROT:P00439	PAH	V	190	A	V190A	Pathogenic	1	1	21	5
MUT:PAH:Val230Ala	PROT:P00439	PAH	V	230	A	V230A	Likely pathogenic	1	1	21	31
MUT:PAH:Val230Ile	PROT:P00439	PAH	V	230	I	V230I	Likely pathogenic	1	2	21	31
MUT:PAH:Val245Ala	PROT:P00439	PAH	V	245	A	V245A	Pathogenic	1	2	21	29
MUT:PAH:Val245Glu	PROT:P00439	PAH	V	245	E	V245E	Pathogenic	1	1	21	29
MUT:PAH:Val245Leu	PROT:P00439	PAH	V	245	L	V245L	Pathogenic	1	1	21	29
MUT:PAH:Val245Met	PROT:P00439	PAH	V	245	M	V245M	Pathogenic	1	1	21	29
MUT:PAH:Val262Gly	PROT:P00439	PAH	V	262	G	V262G	Likely pathogenic	1	1	21	12
MUT:PAH:Val388Ala	PROT:P00439	PAH	V	388	A	V388A	Likely pathogenic	1	1	21	23
MUT:PAH:Val388Leu	PROT:P00439	PAH	V	388	L	V388L	Pathogenic	1	1	21	23
MUT:PAH:Val388Met	PROT:P00439	PAH	V	388	M	V388M	Pathogenic	1	1	21	23
MUT:PAH:Val399Ala	PROT:P00439	PAH	V	399	A	V399A	Likely pathogenic	1	1	21	12
MUT:PAH:Val45Phe	PROT:P00439	PAH	V	45	F	V45F	Pathogenic	1	1	21	5
MUT:PAK1:Arg105Cys	PROT:Q13153	PAK1	R	105	C	R105C	Likely pathogenic	1	1	37	4
MUT:PAK1:Arg371Cys	PROT:Q13153	PAK1	R	371	C	R371C	Likely pathogenic	1	1	37	44
MUT:PAK1:Arg421Trp	PROT:Q13153	PAK1	R	421	W	R421W	Likely pathogenic	1	1	37	1
MUT:PAK1:Glu226Ala	PROT:Q13153	PAK1	E	226	A	E226A	Likely benign	0	1	37	1
MUT:PAK1:Glu372Ala	PROT:Q13153	PAK1	E	372	A	E372A	Likely pathogenic	1	1	37	43
MUT:PAK1:Gly88Ser	PROT:Q13153	PAK1	G	88	S	G88S	Likely pathogenic	1	1	37	21
MUT:PAK1:Ile312Ser	PROT:Q13153	PAK1	I	312	S	I312S	Likely pathogenic	1	1	37	3
MUT:PAK1:Ile476Thr	PROT:Q13153	PAK1	I	476	T	I476T	Pathogenic/Likely pathogenic	1	1	37	2
MUT:PAK1:Ile476Val	PROT:Q13153	PAK1	I	476	V	I476V	Likely pathogenic	1	1	37	2
MUT:PAK1:Leu470Arg	PROT:Q13153	PAK1	L	470	R	L470R	Likely pathogenic	1	1	37	4
MUT:PAK1:Leu470Gln	PROT:Q13153	PAK1	L	470	Q	L470Q	Likely pathogenic	1	1	37	4
MUT:PAK1:Leu527His	PROT:Q13153	PAK1	L	527	H	L527H	Likely benign	0	1	37	16
MUT:PAK1:Met143Thr	PROT:Q13153	PAK1	M	143	T	M143T	Likely pathogenic	1	1	37	1
MUT:PAK1:Met143Val	PROT:Q13153	PAK1	M	143	V	M143V	Likely pathogenic	1	1	37	1
MUT:PAK1:Pro121Leu	PROT:Q13153	PAK1	P	121	L	P121L	Pathogenic	1	3	37	10
MUT:PAK1:Pro121Ser	PROT:Q13153	PAK1	P	121	S	P121S	Pathogenic/Likely pathogenic	1	1	37	10
MUT:PAK1:Pro186Leu	PROT:Q13153	PAK1	P	186	L	P186L	Likely benign	0	1	37	12
MUT:PAK1:Ser110Thr	PROT:Q13153	PAK1	S	110	T	S110T	Likely pathogenic	1	1	37	0
MUT:PAK1:Ser133Pro	PROT:Q13153	PAK1	S	133	P	S133P	Likely pathogenic	1	1	37	0
MUT:PAK1:Thr84Arg	PROT:Q13153	PAK1	T	84	R	T84R	Likely pathogenic	1	1	37	21
MUT:PAK1:Tyr131Asn	PROT:Q13153	PAK1	Y	131	N	Y131N	Pathogenic	1	1	37	0
MUT:PAK1:Tyr131Cys	PROT:Q13153	PAK1	Y	131	C	Y131C	Likely pathogenic	1	1	37	0
MUT:PAK1:Tyr142His	PROT:Q13153	PAK1	Y	142	H	Y142H	Likely pathogenic	1	1	37	2
MUT:PAK1:Tyr429Cys	PROT:Q13153	PAK1	Y	429	C	Y429C	Likely pathogenic	1	1	37	2
MUT:PAK1:Tyr474His	PROT:Q13153	PAK1	Y	474	H	Y474H	Likely pathogenic	1	1	37	0
MUT:PAK1:Val217Met	PROT:Q13153	PAK1	V	217	M	V217M	Likely benign	0	1	37	2
MUT:PAK1:Val284Met	PROT:Q13153	PAK1	V	284	M	V284M	Likely pathogenic	1	1	37	1
MUT:PAK2:Asp425Asn	PROT:Q13177	PAK2	D	425	N	D425N	Likely pathogenic	1	1	54	23
MUT:PAK2:Gln279Pro	PROT:Q13177	PAK2	Q	279	P	Q279P	Likely pathogenic	1	1	54	44
MUT:PAK2:Glu435Lys	PROT:Q13177	PAK2	E	435	K	E435K	Pathogenic	1	1	54	18
MUT:PAK3:Ala365Glu	PROT:O75914	PAK3	A	365	E	A365E	Pathogenic	1	1	19	63
MUT:PAK3:Arg67Cys	PROT:O75914	PAK3	R	67	C	R67C	Pathogenic	1	1	19	5
MUT:PAK3:Cys371Tyr	PROT:O75914	PAK3	C	371	Y	C371Y	Likely pathogenic	1	1	19	57
MUT:PAK3:Gly424Arg	PROT:O75914	PAK3	G	424	R	G424R	Likely pathogenic	1	2	19	4
MUT:PAK3:Gly4Ser	PROT:O75914	PAK3	G	4	S	G4S	Benign/Likely benign	0	1	19	41
MUT:PAK3:Pro222Gln	PROT:O75914	PAK3	P	222	Q	P222Q	Benign/Likely benign	0	1	19	2
MUT:PAK3:Trp428Arg	PROT:O75914	PAK3	W	428	R	W428R	Likely pathogenic	1	1	19	0
MUT:PAK3:Trp446Ser	PROT:O75914	PAK3	W	446	S	W446S	Pathogenic	1	1	19	6
MUT:PAK3:Tyr427His	PROT:O75914	PAK3	Y	427	H	Y427H	Likely pathogenic	1	1	19	1
MUT:PAK3:Val423Glu	PROT:O75914	PAK3	V	423	E	V423E	Likely pathogenic	1	1	19	5
MUT:PALLD:Arg1122Gln	PROT:Q8WX93	PALLD	R	1122	Q	R1122Q	Likely benign	0	1	18	86
MUT:PALLD:Arg138Gln	PROT:Q8WX93	PALLD	R	138	Q	R138Q	Likely benign	0	1	18	2
MUT:PALLD:Arg255His	PROT:Q8WX93	PALLD	R	255	H	R255H	Benign/Likely benign	0	2	18	119
MUT:PALLD:Arg617Cys	PROT:Q8WX93	PALLD	R	617	C	R617C	Benign/Likely benign	0	1	18	52
MUT:PALLD:Gly203Val	PROT:Q8WX93	PALLD	G	203	V	G203V	Likely benign	0	1	18	67
MUT:PALLD:Gly3Val	PROT:Q8WX93	PALLD	G	3	V	G3V	Benign/Likely benign	0	2	18	109
MUT:PALLD:His158Asn	PROT:Q8WX93	PALLD	H	158	N	H158N	Likely benign	0	1	18	22
MUT:PALLD:His614Gln	PROT:Q8WX93	PALLD	H	614	Q	H614Q	Likely benign	0	1	18	55
MUT:PALLD:Met224Ile	PROT:Q8WX93	PALLD	M	224	I	M224I	Benign	0	1	18	88
MUT:PALLD:Met224Thr	PROT:Q8WX93	PALLD	M	224	T	M224T	Benign	0	2	18	88
MUT:PALLD:Thr156Met	PROT:Q8WX93	PALLD	T	156	M	T156M	Likely benign	0	2	18	20
MUT:PALLD:Thr425Asn	PROT:Q8WX93	PALLD	T	425	N	T425N	Benign	0	1	18	2
MUT:PALS1:Glu207Ala	PROT:Q8N3R9	PALS1	E	207	A	E207A	Likely benign	0	1	14	36
MUT:PANK4:Ala547Val	PROT:Q9NVE7	PANK4	A	547	V	A547V	Benign	0	1	12	93
MUT:PANX1:Cys347Ser	PROT:Q96RD7	PANX1	C	347	S	C347S	Pathogenic	1	1	7	4
MUT:PANX1:Gln5His	PROT:Q96RD7	PANX1	Q	5	H	Q5H	Benign	0	1	7	193
MUT:PANX1:Ile272Val	PROT:Q96RD7	PANX1	I	272	V	I272V	Benign	0	1	7	71
MUT:PANX1:Lys346Glu	PROT:Q96RD7	PANX1	K	346	E	K346E	Pathogenic	1	1	7	3
MUT:PANX1:Thr396Met	PROT:Q96RD7	PANX1	T	396	M	T396M	Benign	0	1	7	13
MUT:PANX1:Val290Met	PROT:Q96RD7	PANX1	V	290	M	V290M	Likely benign	0	1	7	53
MUT:PAPPA2:Ala1033Val	PROT:Q9BXP8	PAPPA2	A	1033	V	A1033V	Pathogenic	1	1	3	125
MUT:PAPPA2:Arg1194Gln	PROT:Q9BXP8	PAPPA2	R	1194	Q	R1194Q	Likely benign	0	1	3	286
MUT:PAPPA2:Arg1230His	PROT:Q9BXP8	PAPPA2	R	1230	H	R1230H	Likely benign	0	1	3	322
MUT:PAPPA2:Arg1362His	PROT:Q9BXP8	PAPPA2	R	1362	H	R1362H	Likely benign	0	1	3	454
MUT:PAPPA2:Arg653His	PROT:Q9BXP8	PAPPA2	R	653	H	R653H	Likely benign	0	1	3	176
MUT:PAPPA2:Asn23Ser	PROT:Q9BXP8	PAPPA2	N	23	S	N23S	Likely benign	0	1	3	806
MUT:PAPPA2:Asp208Gly	PROT:Q9BXP8	PAPPA2	D	208	G	D208G	Likely benign	0	1	3	621
MUT:PAPPA2:Asp729Asn	PROT:Q9BXP8	PAPPA2	D	729	N	D729N	Likely benign	0	1	3	100
MUT:PAPPA2:Cys20Ser	PROT:Q9BXP8	PAPPA2	C	20	S	C20S	Likely benign	0	1	3	809
MUT:PAPPA2:Glu414Gln	PROT:Q9BXP8	PAPPA2	E	414	Q	E414Q	Likely benign	0	1	3	415
MUT:PAPPA2:Gly1364Ser	PROT:Q9BXP8	PAPPA2	G	1364	S	G1364S	Likely benign	0	1	3	456
MUT:PAPPA2:Gly246Asp	PROT:Q9BXP8	PAPPA2	G	246	D	G246D	Likely benign	0	1	3	583
MUT:PAPPA2:Ile1695Val	PROT:Q9BXP8	PAPPA2	I	1695	V	I1695V	Likely benign	0	1	3	787
MUT:PAPPA2:Ile215Val	PROT:Q9BXP8	PAPPA2	I	215	V	I215V	Likely benign	0	1	3	614
MUT:PAPPA2:Ile541Thr	PROT:Q9BXP8	PAPPA2	I	541	T	I541T	Likely benign	0	1	3	288
MUT:PAPPA2:Leu955Pro	PROT:Q9BXP8	PAPPA2	L	955	P	L955P	Likely benign	0	1	3	47
MUT:PAPPA2:Pro109Arg	PROT:Q9BXP8	PAPPA2	P	109	R	P109R	Likely benign	0	1	3	720
MUT:PAPPA2:Ser62Ala	PROT:Q9BXP8	PAPPA2	S	62	A	S62A	Likely benign	0	1	3	767
MUT:PAPPA2:Thr792Ile	PROT:Q9BXP8	PAPPA2	T	792	I	T792I	Likely benign	0	1	3	37
MUT:PAPPA2:Val1079Met	PROT:Q9BXP8	PAPPA2	V	1079	M	V1079M	Likely benign	0	1	3	171
MUT:PAPPA:Val449Met	PROT:Q13219	PAPPA	V	449	M	V449M	Likely benign	0	1	2	1
MUT:PARD3:Ala934Val	PROT:Q8TEW0	PARD3	A	934	V	A934V	Benign	0	1	69	1
MUT:PARD3:Asn452Asp	PROT:Q8TEW0	PARD3	N	452	D	N452D	Likely benign	0	1	69	33
MUT:PARD3:Asp780Gly	PROT:Q8TEW0	PARD3	D	780	G	D780G	Pathogenic	1	1	69	12
MUT:PARD3:Glu1066Gln	PROT:Q8TEW0	PARD3	E	1066	Q	E1066Q	Likely benign	0	1	69	14
MUT:PARD3:Glu107Asp	PROT:Q8TEW0	PARD3	E	107	D	E107D	Benign	0	1	69	12
MUT:PARD3:Gly1097Arg	PROT:Q8TEW0	PARD3	G	1097	R	G1097R	Benign	0	1	69	1
MUT:PARD3:Ile415Thr	PROT:Q8TEW0	PARD3	I	415	T	I415T	Likely benign	0	1	69	27
MUT:PARD3:Lys981Arg	PROT:Q8TEW0	PARD3	K	981	R	K981R	Likely benign	0	1	69	8
MUT:PARD3:Pro910Gln	PROT:Q8TEW0	PARD3	P	910	Q	P910Q	Pathogenic	1	1	69	14
MUT:PARD3:Ser292Thr	PROT:Q8TEW0	PARD3	S	292	T	S292T	Likely benign	0	1	69	57
MUT:PARD3:Thr1187Met	PROT:Q8TEW0	PARD3	T	1187	M	T1187M	Benign	0	1	69	9
MUT:PARD6A:Pro182Arg	PROT:Q9NPB6	PARD6A	P	182	R	P182R	Likely benign	0	1	6	81
MUT:PARD6A:Val285Ile	PROT:Q9NPB6	PARD6A	V	285	I	V285I	Benign	0	1	6	3
MUT:PARP14:Ala1513Val	PROT:Q460N5	PARP14	A	1513	V	A1513V	Benign	0	3	3	102
MUT:PARP14:Pro695Thr	PROT:Q460N5	PARP14	P	695	T	P695T	Benign	0	1	3	281
MUT:PARP14:Ser485Arg	PROT:Q460N5	PARP14	S	485	R	S485R	Benign	0	1	3	71
MUT:PARP1:Ala188Thr	PROT:P09874	PARP1	A	188	T	A188T	Benign	0	1	76	1
MUT:PARP1:Ala220Val	PROT:P09874	PARP1	A	220	V	A220V	Likely benign	0	3	76	1
MUT:PARP1:Glu296Lys	PROT:P09874	PARP1	E	296	K	E296K	Likely benign	0	1	76	19
MUT:PARP1:Lys940Arg	PROT:P09874	PARP1	K	940	R	K940R	Benign	0	1	76	0
MUT:PARP1:Pro377Ser	PROT:P09874	PARP1	P	377	S	P377S	Benign/Likely benign	0	1	76	4
MUT:PARP1:Ser383Tyr	PROT:P09874	PARP1	S	383	Y	S383Y	Likely benign	0	1	76	10
MUT:PARP1:Ser5Trp	PROT:P09874	PARP1	S	5	W	S5W	Likely benign	0	1	76	0
MUT:PARP1:Val219Ala	PROT:P09874	PARP1	V	219	A	V219A	Likely benign	0	1	76	2
MUT:PARP1:Val334Ile	PROT:P09874	PARP1	V	334	I	V334I	Likely benign	0	1	76	3
MUT:PARP9:Thr616Ala	PROT:Q8IXQ6	PARP9	T	616	A	T616A	Benign	0	2	23	16
MUT:PARS2:Ala385Val	PROT:Q7L3T8	PARS2	A	385	V	A385V	Benign/Likely benign	0	1	2	246
MUT:PARS2:Arg19His	PROT:Q7L3T8	PARS2	R	19	H	R19H	Likely benign	0	1	2	74
MUT:PARS2:Arg28Ser	PROT:Q7L3T8	PARS2	R	28	S	R28S	Benign	0	1	2	65
MUT:PARS2:Asp424Val	PROT:Q7L3T8	PARS2	D	424	V	D424V	Likely pathogenic	1	1	2	285
MUT:PARS2:Ile390Thr	PROT:Q7L3T8	PARS2	I	390	T	I390T	Likely benign	0	1	2	251
MUT:PARS2:Leu21Arg	PROT:Q7L3T8	PARS2	L	21	R	L21R	Benign	0	1	2	72
MUT:PARS2:Met282Leu	PROT:Q7L3T8	PARS2	M	282	L	M282L	Likely benign	0	1	2	143
MUT:PARS2:Pro293Ala	PROT:Q7L3T8	PARS2	P	293	A	P293A	Likely pathogenic	1	1	2	154
MUT:PARS2:Val449Ile	PROT:Q7L3T8	PARS2	V	449	I	V449I	Likely benign	0	1	2	310
MUT:PASK:Arg1120His	PROT:Q96RG2	PASK	R	1120	H	R1120H	Likely benign	0	1	32	2
MUT:PASK:Leu1051Val	PROT:Q96RG2	PASK	L	1051	V	L1051V	Likely benign	0	1	32	6
MUT:PASK:Thr763Met	PROT:Q96RG2	PASK	T	763	M	T763M	Likely benign	0	1	32	80
MUT:PAX2:Arg140Trp	PROT:Q02962	PAX2	R	140	W	R140W	Pathogenic	1	1	4	61
MUT:PAX2:Arg243Gln	PROT:Q02962	PAX2	R	243	Q	R243Q	Likely benign	0	1	4	17
MUT:PAX2:Arg31Pro	PROT:Q02962	PAX2	R	31	P	R31P	Likely pathogenic	1	1	4	41
MUT:PAX2:Arg31Trp	PROT:Q02962	PAX2	R	31	W	R31W	Likely pathogenic	1	1	4	41
MUT:PAX2:Arg50Gly	PROT:Q02962	PAX2	R	50	G	R50G	Likely pathogenic	1	1	4	22
MUT:PAX2:Arg50Trp	PROT:Q02962	PAX2	R	50	W	R50W	Likely pathogenic	1	2	4	22
MUT:PAX2:Arg56Trp	PROT:Q02962	PAX2	R	56	W	R56W	Likely pathogenic	1	1	4	16
MUT:PAX2:Arg59Trp	PROT:Q02962	PAX2	R	59	W	R59W	Likely pathogenic	1	1	4	13
MUT:PAX2:Arg71Gly	PROT:Q02962	PAX2	R	71	G	R71G	Likely pathogenic	1	1	4	1
MUT:PAX2:Arg71Met	PROT:Q02962	PAX2	R	71	M	R71M	Likely pathogenic	1	1	4	1
MUT:PAX2:Arg71Thr	PROT:Q02962	PAX2	R	71	T	R71T	Pathogenic	1	1	4	1
MUT:PAX2:Gln353Pro	PROT:Q02962	PAX2	Q	353	P	Q353P	Likely benign	0	2	4	127
MUT:PAX2:Gly189Arg	PROT:Q02962	PAX2	G	189	R	G189R	Pathogenic	1	1	4	37
MUT:PAX2:Gly24Trp	PROT:Q02962	PAX2	G	24	W	G24W	Likely pathogenic	1	1	4	48
MUT:PAX2:Gly25Glu	PROT:Q02962	PAX2	G	25	E	G25E	Likely pathogenic	1	1	4	47
MUT:PAX2:Gly328Val	PROT:Q02962	PAX2	G	328	V	G328V	Likely pathogenic	1	1	4	102
MUT:PAX2:Gly63Ser	PROT:Q02962	PAX2	G	63	S	G63S	Pathogenic/Likely pathogenic	1	1	4	9
MUT:PAX2:Gly76Arg	PROT:Q02962	PAX2	G	76	R	G76R	Likely pathogenic	1	3	4	3
MUT:PAX2:Gly76Ser	PROT:Q02962	PAX2	G	76	S	G76S	Pathogenic/Likely pathogenic	1	1	4	3
MUT:PAX2:Gly85Asp	PROT:Q02962	PAX2	G	85	D	G85D	Pathogenic	1	1	4	6
MUT:PAX2:Gly85Cys	PROT:Q02962	PAX2	G	85	C	G85C	Likely pathogenic	1	1	4	6
MUT:PAX2:Ile78Met	PROT:Q02962	PAX2	I	78	M	I78M	Likely pathogenic	1	1	4	1
MUT:PAX2:Leu33Val	PROT:Q02962	PAX2	L	33	V	L33V	Likely pathogenic	1	1	4	39
MUT:PAX2:Leu69Pro	PROT:Q02962	PAX2	L	69	P	L69P	Likely pathogenic	1	2	4	3
MUT:PAX2:Pro130Arg	PROT:Q02962	PAX2	P	130	R	P130R	Likely pathogenic	1	1	4	51
MUT:PAX2:Pro130Ser	PROT:Q02962	PAX2	P	130	S	P130S	Likely pathogenic	1	1	4	51
MUT:PAX2:Pro80Gln	PROT:Q02962	PAX2	P	80	Q	P80Q	Likely pathogenic	1	1	4	1
MUT:PAX2:Pro80Leu	PROT:Q02962	PAX2	P	80	L	P80L	Pathogenic/Likely pathogenic	1	1	4	1
MUT:PAX2:Pro88Arg	PROT:Q02962	PAX2	P	88	R	P88R	Pathogenic	1	1	4	9
MUT:PAX2:Ser61Ile	PROT:Q02962	PAX2	S	61	I	S61I	Likely pathogenic	1	1	4	11
MUT:PAX2:Thr92Met	PROT:Q02962	PAX2	T	92	M	T92M	Likely pathogenic	1	1	4	13
MUT:PAX2:Tyr73His	PROT:Q02962	PAX2	Y	73	H	Y73H	Likely pathogenic	1	1	4	0
MUT:PAX8:Arg133Gln	PROT:Q06710	PAX8	R	133	Q	R133Q	Likely pathogenic	1	2	2	118
MUT:PAX8:Arg133Trp	PROT:Q06710	PAX8	R	133	W	R133W	Pathogenic	1	1	2	118
MUT:PAX8:Arg31Cys	PROT:Q06710	PAX8	R	31	C	R31C	Pathogenic/Likely pathogenic	1	1	2	220
MUT:PAX8:Arg31His	PROT:Q06710	PAX8	R	31	H	R31H	Pathogenic	1	1	2	220
MUT:PAX8:Arg364Gln	PROT:Q06710	PAX8	R	364	Q	R364Q	Likely benign	0	1	2	61
MUT:PAX8:Arg72Gln	PROT:Q06710	PAX8	R	72	Q	R72Q	Likely benign	0	1	2	179
MUT:PAX8:Cys57Tyr	PROT:Q06710	PAX8	C	57	Y	C57Y	Pathogenic	1	1	2	194
MUT:PAX8:Gln40Pro	PROT:Q06710	PAX8	Q	40	P	Q40P	Pathogenic	1	1	2	211
MUT:PAX8:Glu237Gln	PROT:Q06710	PAX8	E	237	Q	E237Q	Likely benign	0	1	2	14
MUT:PAX8:Gly177Asp	PROT:Q06710	PAX8	G	177	D	G177D	Likely benign	0	1	2	74
MUT:PAX8:Gly382Arg	PROT:Q06710	PAX8	G	382	R	G382R	Likely benign	0	1	2	79
MUT:PAX8:Gly69Ser	PROT:Q06710	PAX8	G	69	S	G69S	Likely pathogenic	1	1	2	182
MUT:PAX8:Ile34Asn	PROT:Q06710	PAX8	I	34	N	I34N	Pathogenic	1	1	2	217
MUT:PAX8:Leu62Arg	PROT:Q06710	PAX8	L	62	R	L62R	Pathogenic	1	1	2	189
MUT:PAX8:Lys135Arg	PROT:Q06710	PAX8	K	135	R	K135R	Benign/Likely benign	0	1	2	116
MUT:PAX8:Phe329Leu	PROT:Q06710	PAX8	F	329	L	F329L	Benign/Likely benign	0	3	2	26
MUT:PAX8:Ser48Phe	PROT:Q06710	PAX8	S	48	F	S48F	Pathogenic	1	1	2	203
MUT:PAX8:Ser54Cys	PROT:Q06710	PAX8	S	54	C	S54C	Likely pathogenic	1	1	2	197
MUT:PAX8:Ser54Gly	PROT:Q06710	PAX8	S	54	G	S54G	Pathogenic	1	1	2	197
MUT:PAX8:Ser79Phe	PROT:Q06710	PAX8	S	79	F	S79F	Likely pathogenic	1	1	2	172
MUT:PAX8:Thr380Ile	PROT:Q06710	PAX8	T	380	I	T380I	Likely benign	0	1	2	77
MUT:PBRM1:Glu1333Lys	PROT:Q86U86	PBRM1	E	1333	K	E1333K	Likely benign	0	1	9	644
MUT:PCARE:Ala252Asp	PROT:A6NGG8	PCARE	A	252	D	A252D	Benign	0	2	5	21
MUT:PCARE:Ala628Thr	PROT:A6NGG8	PCARE	A	628	T	A628T	Benign	0	1	5	111
MUT:PCARE:Ala648Thr	PROT:A6NGG8	PCARE	A	648	T	A648T	Benign	0	2	5	91
MUT:PCARE:Ala959Thr	PROT:A6NGG8	PCARE	A	959	T	A959T	Benign	0	2	5	220
MUT:PCARE:Arg258Ile	PROT:A6NGG8	PCARE	R	258	I	R258I	Benign	0	1	5	15
MUT:PCARE:Glu136Gly	PROT:A6NGG8	PCARE	E	136	G	E136G	Likely benign	0	1	5	137
MUT:PCARE:Glu227Lys	PROT:A6NGG8	PCARE	E	227	K	E227K	Benign	0	2	5	46
MUT:PCARE:Gly1247Ser	PROT:A6NGG8	PCARE	G	1247	S	G1247S	Benign/Likely benign	0	3	5	508
MUT:PCARE:Ile783Thr	PROT:A6NGG8	PCARE	I	783	T	I783T	Likely benign	0	1	5	44
MUT:PCARE:Leu792Val	PROT:A6NGG8	PCARE	L	792	V	L792V	Benign	0	3	5	53
MUT:PCARE:Lys421Arg	PROT:A6NGG8	PCARE	K	421	R	K421R	Benign	0	2	5	51
MUT:PCARE:Pro1013Ala	PROT:A6NGG8	PCARE	P	1013	A	P1013A	Likely benign	0	1	5	274
MUT:PCARE:Pro1254Leu	PROT:A6NGG8	PCARE	P	1254	L	P1254L	Benign	0	1	5	515
MUT:PCARE:Ser13Cys	PROT:A6NGG8	PCARE	S	13	C	S13C	Benign	0	1	5	260
MUT:PCARE:Thr580Met	PROT:A6NGG8	PCARE	T	580	M	T580M	Benign	0	3	5	159
MUT:PCARE:Val463Phe	PROT:A6NGG8	PCARE	V	463	F	V463F	Benign	0	1	5	93
MUT:PCARE:Val615Asp	PROT:A6NGG8	PCARE	V	615	D	V615D	Benign/Likely benign	0	2	5	124
MUT:PCDH11X:Asp760Val	PROT:Q9BZA7	PCDH11X	D	760	V	D760V	Likely benign	0	1	4	118
MUT:PCDH9:Asp616Glu	PROT:Q9HC56	PCDH9	D	616	E	D616E	Likely benign	0	1	5	316
MUT:PCDHA12:Arg498Trp	PROT:Q9UN75	PCDHA12	R	498	W	R498W	Likely benign	0	1	3	301
MUT:PCDHA2:Ser751Leu	PROT:Q9Y5H9	PCDHA2	S	751	L	S751L	Likely benign	0	1	1	140
MUT:PCDHA3:Cys759Tyr	PROT:Q9Y5H8	PCDHA3	C	759	Y	C759Y	Benign	0	1	1	134
MUT:PCDHA3:Ile289Thr	PROT:Q9Y5H8	PCDHA3	I	289	T	I289T	Benign	0	1	1	604
MUT:PCDHA3:Ile318Val	PROT:Q9Y5H8	PCDHA3	I	318	V	I318V	Benign	0	1	1	575
MUT:PCDHA3:Leu647Pro	PROT:Q9Y5H8	PCDHA3	L	647	P	L647P	Likely benign	0	1	1	246
MUT:PCDHA3:Pro61Gln	PROT:Q9Y5H8	PCDHA3	P	61	Q	P61Q	Benign	0	1	1	832
MUT:PCDHA3:Ser440Ile	PROT:Q9Y5H8	PCDHA3	S	440	I	S440I	Benign	0	1	1	453
MUT:PCDHA3:Thr662Met	PROT:Q9Y5H8	PCDHA3	T	662	M	T662M	Benign	0	1	1	231
MUT:PCDHA6:Thr390Met	PROT:Q9UN73	PCDHA6	T	390	M	T390M	Likely benign	0	1	3	124
MUT:PCDHA9:Ala636Val	PROT:Q9Y5H5	PCDHA9	A	636	V	A636V	Likely benign	0	1	1	257
MUT:PCDHA9:Ala686Asp	PROT:Q9Y5H5	PCDHA9	A	686	D	A686D	Likely benign	0	1	1	207
MUT:PCDHA9:Arg681Gln	PROT:Q9Y5H5	PCDHA9	R	681	Q	R681Q	Likely benign	0	1	1	212
MUT:PCDHA9:Asp111Glu	PROT:Q9Y5H5	PCDHA9	D	111	E	D111E	Likely benign	0	1	1	782
MUT:PCDHA9:Gln612Lys	PROT:Q9Y5H5	PCDHA9	Q	612	K	Q612K	Likely benign	0	1	1	281
MUT:PCDHA9:Glu40Lys	PROT:Q9Y5H5	PCDHA9	E	40	K	E40K	Likely benign	0	1	1	853
MUT:PCDHA9:Glu501Gln	PROT:Q9Y5H5	PCDHA9	E	501	Q	E501Q	Benign	0	1	1	392
MUT:PCDHA9:Gly430Arg	PROT:Q9Y5H5	PCDHA9	G	430	R	G430R	Likely benign	0	1	1	463
MUT:PCDHA9:Gly572Arg	PROT:Q9Y5H5	PCDHA9	G	572	R	G572R	Likely benign	0	1	1	321
MUT:PCDHA9:Leu336Val	PROT:Q9Y5H5	PCDHA9	L	336	V	L336V	Likely benign	0	1	1	557
MUT:PCDHA9:Lys764Gln	PROT:Q9Y5H5	PCDHA9	K	764	Q	K764Q	Likely benign	0	1	1	129
MUT:PCDHA9:Lys764Thr	PROT:Q9Y5H5	PCDHA9	K	764	T	K764T	Likely benign	0	1	1	129
MUT:PCDHA9:Phe64Leu	PROT:Q9Y5H5	PCDHA9	F	64	L	F64L	Likely benign	0	1	1	829
MUT:PCDHA9:Ser28Arg	PROT:Q9Y5H5	PCDHA9	S	28	R	S28R	Likely benign	0	1	1	865
MUT:PCDHGA11:Arg628His	PROT:Q9Y5H2	PCDHGA11	R	628	H	R628H	Benign	0	3	8	1
MUT:PCDHGA2:Ile683Lys	PROT:Q9Y5H1	PCDHGA2	I	683	K	I683K	Likely benign	0	1	12	54
MUT:PCDHGA5:Gly482Ser	PROT:Q9Y5G8	PCDHGA5	G	482	S	G482S	Likely benign	0	1	7	146
MUT:PCDHGB1:Arg643His	PROT:Q9Y5G3	PCDHGB1	R	643	H	R643H	Likely benign	0	1	6	103
MUT:PCDHGB6:Arg641Cys	PROT:Q9Y5F9	PCDHGB6	R	641	C	R641C	Likely benign	0	1	4	236
MUT:PCDHGC4:Arg623Gln	PROT:Q9Y5F7	PCDHGC4	R	623	Q	R623Q	Likely benign	0	1	6	73
MUT:PCDHGC4:Asp483Glu	PROT:Q9Y5F7	PCDHGC4	D	483	E	D483E	Pathogenic	1	1	6	63
MUT:PCGF2:Ala313Val	PROT:P35227	PCGF2	A	313	V	A313V	Benign/Likely benign	0	2	3	21
MUT:PCGF2:Arg182Cys	PROT:P35227	PCGF2	R	182	C	R182C	Likely benign	0	1	3	44
MUT:PCGF2:Pro65Leu	PROT:P35227	PCGF2	P	65	L	P65L	Pathogenic/Likely pathogenic	1	3	3	8
MUT:PCGF2:Pro65Ser	PROT:P35227	PCGF2	P	65	S	P65S	Likely pathogenic	1	1	3	8
MUT:PCGF2:Thr281Pro	PROT:P35227	PCGF2	T	281	P	T281P	Benign	0	1	3	53
MUT:PCGF2:Val340Met	PROT:P35227	PCGF2	V	340	M	V340M	Likely benign	0	1	3	6
MUT:PCK1:Cys192Arg	PROT:P35558	PCK1	C	192	R	C192R	Pathogenic	1	1	9	14
MUT:PCK1:Glu276Lys	PROT:P35558	PCK1	E	276	K	E276K	Benign	0	1	9	33
MUT:PCK1:Glu611Gln	PROT:P35558	PCK1	E	611	Q	E611Q	Likely benign	0	1	9	138
MUT:PCK1:Ile267Val	PROT:P35558	PCK1	I	267	V	I267V	Benign	0	1	9	24
MUT:PCK1:Leu11Phe	PROT:P35558	PCK1	L	11	F	L11F	Likely benign	0	1	9	8
MUT:PCK1:Met60Thr	PROT:P35558	PCK1	M	60	T	M60T	Likely benign	0	1	9	10
MUT:PCK1:Pro427Ser	PROT:P35558	PCK1	P	427	S	P427S	Likely benign	0	2	9	46
MUT:PCK1:Ser579Arg	PROT:P35558	PCK1	S	579	R	S579R	Benign/Likely benign	0	1	9	106
MUT:PCK1:Val184Leu	PROT:P35558	PCK1	V	184	L	V184L	Benign	0	1	9	6
MUT:PCK1:Val368Ile	PROT:P35558	PCK1	V	368	I	V368I	Benign	0	1	9	105
MUT:PCK2:Ala581Thr	PROT:Q16822	PCK2	A	581	T	A581T	Benign/Likely benign	0	1	4	90
MUT:PCK2:Pro441Leu	PROT:Q16822	PCK2	P	441	L	P441L	Likely benign	0	1	4	50
MUT:PCK2:Pro599Ser	PROT:Q16822	PCK2	P	599	S	P599S	Likely benign	0	1	4	108
MUT:PCSK5:Arg1757Gln	PROT:Q92824	PCSK5	R	1757	Q	R1757Q	Likely benign	0	1	3	161
MUT:PCSK5:Gln1561His	PROT:Q92824	PCSK5	Q	1561	H	Q1561H	Likely benign	0	1	3	35
MUT:PCSK5:Glu1368Ala	PROT:Q92824	PCSK5	E	1368	A	E1368A	Likely benign	0	1	3	228
MUT:PCSK5:Glu1575Lys	PROT:Q92824	PCSK5	E	1575	K	E1575K	Likely benign	0	1	3	21
MUT:PCSK5:Lys1347Arg	PROT:Q92824	PCSK5	K	1347	R	K1347R	Benign	0	3	3	249
MUT:PCSK5:Ser1266Phe	PROT:Q92824	PCSK5	S	1266	F	S1266F	Likely benign	0	1	3	330
MUT:PCYT1A:Ala99Thr	PROT:P49585	PCYT1A	A	99	T	A99T	Pathogenic	1	1	20	66
MUT:PCYT1A:Ala99Val	PROT:P49585	PCYT1A	A	99	V	A99V	Pathogenic	1	1	20	66
MUT:PCYT1A:Arg223Ser	PROT:P49585	PCYT1A	R	223	S	R223S	Pathogenic/Likely pathogenic	1	1	20	5
MUT:PCYT1A:Arg328His	PROT:P49585	PCYT1A	R	328	H	R328H	Likely benign	0	1	20	1
MUT:PCYT1A:Glu129Lys	PROT:P49585	PCYT1A	E	129	K	E129K	Pathogenic	1	1	20	57
MUT:PCYT1A:Gly20Arg	PROT:P49585	PCYT1A	G	20	R	G20R	Benign	0	1	20	12
MUT:PCYT1A:His138Arg	PROT:P49585	PCYT1A	H	138	R	H138R	Likely pathogenic	1	1	20	48
MUT:PCYT1A:Phe191Leu	PROT:P49585	PCYT1A	F	191	L	F191L	Pathogenic	1	1	20	5
MUT:PCYT1A:Pro150Ala	PROT:P49585	PCYT1A	P	150	A	P150A	Pathogenic/Likely pathogenic	1	1	20	36
MUT:PCYT1A:Pro337Ser	PROT:P49585	PCYT1A	P	337	S	P337S	Likely benign	0	1	20	4
MUT:PCYT1A:Val142Met	PROT:P49585	PCYT1A	V	142	M	V142M	Pathogenic	1	1	20	44
MUT:PDCD10:Val72Leu	PROT:Q9BUL8	PDCD10	V	72	L	V72L	Benign/Likely benign	0	1	9	7
MUT:PDE11A:Ala678Thr	PROT:Q9HCR9	PDE11A	A	678	T	A678T	Benign	0	1	5	237
MUT:PDE11A:Arg184Gln	PROT:Q9HCR9	PDE11A	R	184	Q	R184Q	Benign	0	1	5	21
MUT:PDE11A:Asn298Ser	PROT:Q9HCR9	PDE11A	N	298	S	N298S	Benign	0	2	5	59
MUT:PDE11A:Glu691Lys	PROT:Q9HCR9	PDE11A	E	691	K	E691K	Benign	0	1	5	250
MUT:PDE11A:Ser570Pro	PROT:Q9HCR9	PDE11A	S	570	P	S570P	Benign	0	2	5	129
MUT:PDE11A:Thr51Ile	PROT:Q9HCR9	PDE11A	T	51	I	T51I	Benign	0	1	5	66
MUT:PDE1A:Arg176His	PROT:P54750	PDE1A	R	176	H	R176H	Likely benign	0	1	6	105
MUT:PDE2A:Asp480Gly	PROT:O00408	PDE2A	D	480	G	D480G	Pathogenic	1	1	3	232
MUT:PDE2A:His364Arg	PROT:O00408	PDE2A	H	364	R	H364R	Likely benign	0	1	3	348
MUT:PDE2A:Met148Ile	PROT:O00408	PDE2A	M	148	I	M148I	Likely benign	0	1	3	564
MUT:PDE2A:Pro149Leu	PROT:O00408	PDE2A	P	149	L	P149L	Pathogenic	1	1	3	563
MUT:PDE3A:Ala447Thr	PROT:Q14432	PDE3A	A	447	T	A447T	Pathogenic	1	1	59	2
MUT:PDE3A:Ala447Val	PROT:Q14432	PDE3A	A	447	V	A447V	Pathogenic	1	1	59	2
MUT:PDE3A:Arg459Gln	PROT:Q14432	PDE3A	R	459	Q	R459Q	Benign/Likely benign	0	2	59	4
MUT:PDE3A:Asp282Glu	PROT:Q14432	PDE3A	D	282	E	D282E	Likely benign	0	1	59	5
MUT:PDE3A:Gly169Trp	PROT:Q14432	PDE3A	G	169	W	G169W	Likely benign	0	1	59	118
MUT:PDE3A:Gly449Asp	PROT:Q14432	PDE3A	G	449	D	G449D	Pathogenic	1	1	59	4
MUT:PDE3A:Gly449Cys	PROT:Q14432	PDE3A	G	449	C	G449C	Likely pathogenic	1	1	59	4
MUT:PDE3A:Gly449Val	PROT:Q14432	PDE3A	G	449	V	G449V	Pathogenic	1	1	59	4
MUT:PDE3A:His504Gln	PROT:Q14432	PDE3A	H	504	Q	H504Q	Benign	0	1	59	2
MUT:PDE3A:Thr445Ala	PROT:Q14432	PDE3A	T	445	A	T445A	Pathogenic	1	1	59	0
MUT:PDE3A:Thr445Asn	PROT:Q14432	PDE3A	T	445	N	T445N	Pathogenic	1	1	59	0
MUT:PDE3A:Thr445Ser	PROT:Q14432	PDE3A	T	445	S	T445S	Pathogenic	1	1	59	0
MUT:PDE3A:Tyr254Cys	PROT:Q14432	PDE3A	Y	254	C	Y254C	Benign/Likely benign	0	1	59	33
MUT:PDE3A:Tyr497Cys	PROT:Q14432	PDE3A	Y	497	C	Y497C	Benign	0	1	59	0
MUT:PDE3A:Val349Ile	PROT:Q14432	PDE3A	V	349	I	V349I	Likely benign	0	1	59	37
MUT:PDE4D:Ala304Val	PROT:Q08499	PDE4D	A	304	V	A304V	Pathogenic	1	1	25	1
MUT:PDE4D:Ala799Gly	PROT:Q08499	PDE4D	A	799	G	A799G	Benign	0	1	25	38
MUT:PDE4D:Arg727Gln	PROT:Q08499	PDE4D	R	727	Q	R727Q	Benign/Likely benign	0	1	25	12
MUT:PDE4D:Arg805His	PROT:Q08499	PDE4D	R	805	H	R805H	Likely benign	0	1	25	44
MUT:PDE4D:Gln228Glu	PROT:Q08499	PDE4D	Q	228	E	Q228E	Pathogenic	1	1	25	14
MUT:PDE4D:Glu651Ala	PROT:Q08499	PDE4D	E	651	A	E651A	Pathogenic	1	1	25	6
MUT:PDE4D:Glu684Gly	PROT:Q08499	PDE4D	E	684	G	E684G	Likely pathogenic	1	1	25	27
MUT:PDE4D:Glu745Asp	PROT:Q08499	PDE4D	E	745	D	E745D	Likely benign	0	1	25	1
MUT:PDE4D:Gly673Asp	PROT:Q08499	PDE4D	G	673	D	G673D	Likely pathogenic	1	1	25	16
MUT:PDE4D:Ile333Thr	PROT:Q08499	PDE4D	I	333	T	I333T	Pathogenic	1	1	25	1
MUT:PDE4D:Ile678Thr	PROT:Q08499	PDE4D	I	678	T	I678T	Pathogenic	1	1	25	21
MUT:PDE4D:Leu27Ile	PROT:Q08499	PDE4D	L	27	I	L27I	Likely benign	0	1	25	2
MUT:PDE4D:Leu312Pro	PROT:Q08499	PDE4D	L	312	P	L312P	Likely pathogenic	1	1	25	5
MUT:PDE4D:Leu316His	PROT:Q08499	PDE4D	L	316	H	L316H	Likely pathogenic	1	1	25	1
MUT:PDE4D:Phe226Cys	PROT:Q08499	PDE4D	F	226	C	F226C	Pathogenic	1	1	25	12
MUT:PDE4D:Phe226Ser	PROT:Q08499	PDE4D	F	226	S	F226S	Pathogenic	1	1	25	12
MUT:PDE4D:Pro225Leu	PROT:Q08499	PDE4D	P	225	L	P225L	Pathogenic	1	1	25	11
MUT:PDE4D:Pro225Ser	PROT:Q08499	PDE4D	P	225	S	P225S	Likely pathogenic	1	1	25	11
MUT:PDE4D:Pro225Thr	PROT:Q08499	PDE4D	P	225	T	P225T	Pathogenic	1	1	25	11
MUT:PDE4D:Pro39Thr	PROT:Q08499	PDE4D	P	39	T	P39T	Benign	0	1	25	14
MUT:PDE4D:Ser190Ala	PROT:Q08499	PDE4D	S	190	A	S190A	Pathogenic	1	1	25	0
MUT:PDE4D:Ser190Phe	PROT:Q08499	PDE4D	S	190	F	S190F	Likely pathogenic	1	1	25	0
MUT:PDE4D:Ser746Leu	PROT:Q08499	PDE4D	S	746	L	S746L	Likely benign	0	1	25	0
MUT:PDE4D:Thr587Pro	PROT:Q08499	PDE4D	T	587	P	T587P	Pathogenic	1	1	25	70
MUT:PDE4D:Val801Ile	PROT:Q08499	PDE4D	V	801	I	V801I	Benign	0	1	25	40
MUT:PDE6A:Arg102Cys	PROT:P16499	PDE6A	R	102	C	R102C	Pathogenic/Likely pathogenic	1	1	1	365
MUT:PDE6A:Arg102His	PROT:P16499	PDE6A	R	102	H	R102H	Pathogenic/Likely pathogenic	1	2	1	365
MUT:PDE6A:Arg544Trp	PROT:P16499	PDE6A	R	544	W	R544W	Pathogenic/Likely pathogenic	1	3	1	77
MUT:PDE6A:Arg562Gln	PROT:P16499	PDE6A	R	562	Q	R562Q	Likely pathogenic	1	1	1	95
MUT:PDE6A:Arg562Trp	PROT:P16499	PDE6A	R	562	W	R562W	Pathogenic/Likely pathogenic	1	3	1	95
MUT:PDE6A:Asn216Ser	PROT:P16499	PDE6A	N	216	S	N216S	Benign/Likely benign	0	2	1	251
MUT:PDE6A:Gln733Arg	PROT:P16499	PDE6A	Q	733	R	Q733R	Likely pathogenic	1	1	1	266
MUT:PDE6A:Leu13Gln	PROT:P16499	PDE6A	L	13	Q	L13Q	Pathogenic	1	1	1	454
MUT:PDE6A:Leu263Pro	PROT:P16499	PDE6A	L	263	P	L263P	Likely pathogenic	1	1	1	204
MUT:PDE6A:Leu575Pro	PROT:P16499	PDE6A	L	575	P	L575P	Pathogenic/Likely pathogenic	1	1	1	108
MUT:PDE6A:Met1Thr	PROT:P16499	PDE6A	M	1	T	M1T	Likely pathogenic	1	1	1	466
MUT:PDE6A:Met1Val	PROT:P16499	PDE6A	M	1	V	M1V	Likely pathogenic	1	1	1	466
MUT:PDE6A:Pro389Leu	PROT:P16499	PDE6A	P	389	L	P389L	Likely pathogenic	1	1	1	78
MUT:PDE6A:Ser303Cys	PROT:P16499	PDE6A	S	303	C	S303C	Benign/Likely benign	0	1	1	164
MUT:PDE6A:Ser344Arg	PROT:P16499	PDE6A	S	344	R	S344R	Pathogenic	1	1	1	123
MUT:PDE6A:Thr402Lys	PROT:P16499	PDE6A	T	402	K	T402K	Likely pathogenic	1	1	1	65
MUT:PDE6A:Val391Met	PROT:P16499	PDE6A	V	391	M	V391M	Benign/Likely benign	0	2	1	76
MUT:PDE6A:Val685Met	PROT:P16499	PDE6A	V	685	M	V685M	Pathogenic	1	3	1	218
MUT:PDE6B:Ala733Pro	PROT:P35913	PDE6B	A	733	P	A733P	Pathogenic/Likely pathogenic	1	1	5	177
MUT:PDE6B:Arg48Gln	PROT:P35913	PDE6B	R	48	Q	R48Q	Benign/Likely benign	0	2	5	45
MUT:PDE6B:Arg552Gln	PROT:P35913	PDE6B	R	552	Q	R552Q	Pathogenic/Likely pathogenic	1	2	5	4
MUT:PDE6B:Arg552Trp	PROT:P35913	PDE6B	R	552	W	R552W	Pathogenic	1	1	5	4
MUT:PDE6B:Arg560Cys	PROT:P35913	PDE6B	R	560	C	R560C	Pathogenic/Likely pathogenic	1	3	5	4
MUT:PDE6B:Arg98Pro	PROT:P35913	PDE6B	R	98	P	R98P	Likely pathogenic	1	1	5	5
MUT:PDE6B:Asp49Tyr	PROT:P35913	PDE6B	D	49	Y	D49Y	Benign/Likely benign	0	3	5	44
MUT:PDE6B:Asp600Asn	PROT:P35913	PDE6B	D	600	N	D600N	Pathogenic/Likely pathogenic	1	2	5	44
MUT:PDE6B:Asp668Gly	PROT:P35913	PDE6B	D	668	G	D668G	Pathogenic/Likely pathogenic	1	3	5	112
MUT:PDE6B:Asp776Asn	PROT:P35913	PDE6B	D	776	N	D776N	Pathogenic/Likely pathogenic	1	2	5	220
MUT:PDE6B:Glu526Lys	PROT:P35913	PDE6B	E	526	K	E526K	Likely pathogenic	1	2	5	30
MUT:PDE6B:Gly562Ser	PROT:P35913	PDE6B	G	562	S	G562S	Likely pathogenic	1	1	5	6
MUT:PDE6B:Gly576Ser	PROT:P35913	PDE6B	G	576	S	G576S	Likely pathogenic	1	2	5	20
MUT:PDE6B:His258Asn	PROT:P35913	PDE6B	H	258	N	H258N	Pathogenic	1	1	5	31
MUT:PDE6B:His258Gln	PROT:P35913	PDE6B	H	258	Q	H258Q	Likely pathogenic	1	1	5	31
MUT:PDE6B:His337Arg	PROT:P35913	PDE6B	H	337	R	H337R	Likely pathogenic	1	1	5	110
MUT:PDE6B:His557Arg	PROT:P35913	PDE6B	H	557	R	H557R	Likely pathogenic	1	4	5	1
MUT:PDE6B:His557Tyr	PROT:P35913	PDE6B	H	557	Y	H557Y	Pathogenic	1	3	5	1
MUT:PDE6B:His561Arg	PROT:P35913	PDE6B	H	561	R	H561R	Likely pathogenic	1	1	5	5
MUT:PDE6B:Ile357Asn	PROT:P35913	PDE6B	I	357	N	I357N	Likely pathogenic	1	1	5	130
MUT:PDE6B:Ile535Asn	PROT:P35913	PDE6B	I	535	N	I535N	Pathogenic	1	3	5	21
MUT:PDE6B:Leu344Pro	PROT:P35913	PDE6B	L	344	P	L344P	Likely pathogenic	1	1	5	117
MUT:PDE6B:Leu516Pro	PROT:P35913	PDE6B	L	516	P	L516P	Likely pathogenic	1	1	5	40
MUT:PDE6B:Lys724Gln	PROT:P35913	PDE6B	K	724	Q	K724Q	Likely pathogenic	1	1	5	168
MUT:PDE6B:Met1Val	PROT:P35913	PDE6B	M	1	V	M1V	Likely pathogenic	1	2	5	92
MUT:PDE6B:Met714Leu	PROT:P35913	PDE6B	M	714	L	M714L	Pathogenic/Likely pathogenic	1	2	5	158
MUT:PDE6B:Pro125Ala	PROT:P35913	PDE6B	P	125	A	P125A	Benign	0	2	5	32
MUT:PDE6B:Pro387Leu	PROT:P35913	PDE6B	P	387	L	P387L	Pathogenic	1	1	5	160
MUT:PDE6B:Pro41Leu	PROT:P35913	PDE6B	P	41	L	P41L	Likely benign	0	1	5	52
MUT:PDE6B:Thr571Met	PROT:P35913	PDE6B	T	571	M	T571M	Likely pathogenic	1	1	5	15
MUT:PDE6B:Thr592Ile	PROT:P35913	PDE6B	T	592	I	T592I	Likely pathogenic	1	2	5	36
MUT:PDE6B:Trp807Arg	PROT:P35913	PDE6B	W	807	R	W807R	Pathogenic	1	3	5	251
MUT:PDE6B:Tyr582His	PROT:P35913	PDE6B	Y	582	H	Y582H	Pathogenic	1	2	5	26
MUT:PDE6B:Val320Ile	PROT:P35913	PDE6B	V	320	I	V320I	Benign	0	3	5	93
MUT:PDE8B:Arg121His	PROT:O95263	PDE8B	R	121	H	R121H	Benign	0	1	23	191
MUT:PDE8B:Arg216Gln	PROT:O95263	PDE8B	R	216	Q	R216Q	Likely benign	0	1	23	96
MUT:PDE8B:Asp641Asn	PROT:O95263	PDE8B	D	641	N	D641N	Benign	0	1	23	4
MUT:PDE8B:Asp755Asn	PROT:O95263	PDE8B	D	755	N	D755N	Benign	0	1	23	1
MUT:PDE8B:His305Pro	PROT:O95263	PDE8B	H	305	P	H305P	Pathogenic	1	1	23	7
MUT:PDE8B:Ile423Val	PROT:O95263	PDE8B	I	423	V	I423V	Benign	0	2	23	2
MUT:PDE8B:Thr715Met	PROT:O95263	PDE8B	T	715	M	T715M	Likely benign	0	1	23	30
MUT:PDE8B:Val344Gly	PROT:O95263	PDE8B	V	344	G	V344G	Likely benign	0	1	23	6
MUT:PDGFB:Arg224Trp	PROT:P01127	PDGFB	R	224	W	R224W	Benign/Likely benign	0	1	1	28
MUT:PDGFB:Leu119Pro	PROT:P01127	PDGFB	L	119	P	L119P	Pathogenic	1	1	1	77
MUT:PDGFB:Met1Ile	PROT:P01127	PDGFB	M	1	I	M1I	Pathogenic	1	1	1	195
MUT:PDGFB:Met1Val	PROT:P01127	PDGFB	M	1	V	M1V	Likely pathogenic	1	1	1	195
MUT:PDGFB:Thr212Met	PROT:P01127	PDGFB	T	212	M	T212M	Benign/Likely benign	0	1	1	16
MUT:PDGFRA:Ala326Val	PROT:P16234	PDGFRA	A	326	V	A326V	Likely benign	0	1	29	246
MUT:PDGFRA:Ala401Asp	PROT:P16234	PDGFRA	A	401	D	A401D	Benign/Likely benign	0	5	29	171
MUT:PDGFRA:Arg340Gln	PROT:P16234	PDGFRA	R	340	Q	R340Q	Benign	0	3	29	232
MUT:PDGFRA:Arg374Ser	PROT:P16234	PDGFRA	R	374	S	R374S	Benign/Likely benign	0	4	29	198
MUT:PDGFRA:Arg376Gln	PROT:P16234	PDGFRA	R	376	Q	R376Q	Likely benign	0	3	29	196
MUT:PDGFRA:Asn110Ser	PROT:P16234	PDGFRA	N	110	S	N110S	Likely benign	0	1	29	462
MUT:PDGFRA:Asn352Asp	PROT:P16234	PDGFRA	N	352	D	N352D	Likely benign	0	1	29	220
MUT:PDGFRA:Asp846Val	PROT:P16234	PDGFRA	D	846	V	D846V	Pathogenic	1	1	29	1
MUT:PDGFRA:Glu301Ala	PROT:P16234	PDGFRA	E	301	A	E301A	Likely benign	0	1	29	271
MUT:PDGFRA:Gly1005Ser	PROT:P16234	PDGFRA	G	1005	S	G1005S	Likely benign	0	1	29	12
MUT:PDGFRA:Gly79Asp	PROT:P16234	PDGFRA	G	79	D	G79D	Benign/Likely benign	0	3	29	493
MUT:PDGFRA:Ile1060Thr	PROT:P16234	PDGFRA	I	1060	T	I1060T	Likely benign	0	1	29	12
MUT:PDGFRA:Ile1076Met	PROT:P16234	PDGFRA	I	1076	M	I1076M	Benign/Likely benign	0	3	29	28
MUT:PDGFRA:Ile497Phe	PROT:P16234	PDGFRA	I	497	F	I497F	Likely benign	0	1	29	75
MUT:PDGFRA:Leu221Phe	PROT:P16234	PDGFRA	L	221	F	L221F	Benign/Likely benign	0	4	29	351
MUT:PDGFRA:Leu27Ser	PROT:P16234	PDGFRA	L	27	S	L27S	Benign	0	1	29	545
MUT:PDGFRA:Leu761Arg	PROT:P16234	PDGFRA	L	761	R	L761R	Benign	0	2	29	1
MUT:PDGFRA:Leu967Val	PROT:P16234	PDGFRA	L	967	V	L967V	Benign/Likely benign	0	3	29	5
MUT:PDGFRA:Lys196Arg	PROT:P16234	PDGFRA	K	196	R	K196R	Likely benign	0	1	29	376
MUT:PDGFRA:Pro1027Leu	PROT:P16234	PDGFRA	P	1027	L	P1027L	Likely benign	0	1	29	9
MUT:PDGFRA:Pro653Leu	PROT:P16234	PDGFRA	P	653	L	P653L	Pathogenic	1	2	29	15
MUT:PDGFRA:Pro744Ser	PROT:P16234	PDGFRA	P	744	S	P744S	Benign/Likely benign	0	2	29	2
MUT:PDGFRA:Ser268Thr	PROT:P16234	PDGFRA	S	268	T	S268T	Likely benign	0	3	29	304
MUT:PDGFRA:Ser478Pro	PROT:P16234	PDGFRA	S	478	P	S478P	Benign	0	4	29	94
MUT:PDGFRA:Ser67Pro	PROT:P16234	PDGFRA	S	67	P	S67P	Likely benign	0	1	29	505
MUT:PDGFRA:Thr105Ser	PROT:P16234	PDGFRA	T	105	S	T105S	Likely benign	0	1	29	467
MUT:PDGFRA:Tyr555Cys	PROT:P16234	PDGFRA	Y	555	C	Y555C	Pathogenic	1	2	29	17
MUT:PDGFRB:Ala1096Val	PROT:P09619	PDGFRB	A	1096	V	A1096V	Benign/Likely benign	0	1	23	8
MUT:PDGFRB:Ala342Val	PROT:P09619	PDGFRB	A	342	V	A342V	Likely pathogenic	1	1	23	220
MUT:PDGFRB:Ala6Val	PROT:P09619	PDGFRB	A	6	V	A6V	Likely benign	0	1	23	556
MUT:PDGFRB:Arg197Lys	PROT:P09619	PDGFRB	R	197	K	R197K	Benign	0	1	23	365
MUT:PDGFRB:Arg561Cys	PROT:P09619	PDGFRB	R	561	C	R561C	Pathogenic	1	3	23	1
MUT:PDGFRB:Arg919Gln	PROT:P09619	PDGFRB	R	919	Q	R919Q	Likely benign	0	1	23	15
MUT:PDGFRB:Arg987Gln	PROT:P09619	PDGFRB	R	987	Q	R987Q	Benign/Likely benign	0	1	23	17
MUT:PDGFRB:Asn666Lys	PROT:P09619	PDGFRB	N	666	K	N666K	Pathogenic/Likely pathogenic	1	2	23	20
MUT:PDGFRB:Asn666Ser	PROT:P09619	PDGFRB	N	666	S	N666S	Pathogenic/Likely pathogenic	1	2	23	20
MUT:PDGFRB:Asn856Ile	PROT:P09619	PDGFRB	N	856	I	N856I	Likely pathogenic	1	1	23	1
MUT:PDGFRB:Asp850Tyr	PROT:P09619	PDGFRB	D	850	Y	D850Y	Pathogenic	1	1	23	7
MUT:PDGFRB:Asp850Val	PROT:P09619	PDGFRB	D	850	V	D850V	Pathogenic	1	1	23	7
MUT:PDGFRB:Glu485Lys	PROT:P09619	PDGFRB	E	485	K	E485K	Benign/Likely benign	0	2	23	77
MUT:PDGFRB:Gly1040Val	PROT:P09619	PDGFRB	G	1040	V	G1040V	Benign/Likely benign	0	2	23	19
MUT:PDGFRB:Ile194Thr	PROT:P09619	PDGFRB	I	194	T	I194T	Benign/Likely benign	0	1	23	368
MUT:PDGFRB:Ile29Phe	PROT:P09619	PDGFRB	I	29	F	I29F	Benign	0	13	23	533
MUT:PDGFRB:Ile538Asn	PROT:P09619	PDGFRB	I	538	N	I538N	Pathogenic	1	1	23	24
MUT:PDGFRB:Leu658Pro	PROT:P09619	PDGFRB	L	658	P	L658P	Pathogenic	1	1	23	13
MUT:PDGFRB:Lys567Glu	PROT:P09619	PDGFRB	K	567	E	K567E	Pathogenic	1	1	23	5
MUT:PDGFRB:Pro345Ser	PROT:P09619	PDGFRB	P	345	S	P345S	Benign/Likely benign	0	3	23	217
MUT:PDGFRB:Pro427Ser	PROT:P09619	PDGFRB	P	427	S	P427S	Benign/Likely benign	0	1	23	135
MUT:PDGFRB:Pro584Arg	PROT:P09619	PDGFRB	P	584	R	P584R	Pathogenic	1	2	23	3
MUT:PDGFRB:Ser408Cys	PROT:P09619	PDGFRB	S	408	C	S408C	Benign/Likely benign	0	1	23	154
MUT:PDGFRB:Thr324Ile	PROT:P09619	PDGFRB	T	324	I	T324I	Benign/Likely benign	0	1	23	238
MUT:PDGFRB:Thr464Met	PROT:P09619	PDGFRB	T	464	M	T464M	Benign	0	2	23	98
MUT:PDGFRB:Thr88Ile	PROT:P09619	PDGFRB	T	88	I	T88I	Likely benign	0	1	23	474
MUT:PDGFRB:Thr902Asn	PROT:P09619	PDGFRB	T	902	N	T902N	Likely benign	0	1	23	32
MUT:PDGFRB:Trp566Arg	PROT:P09619	PDGFRB	W	566	R	W566R	Pathogenic	1	3	23	4
MUT:PDGFRB:Tyr562Asn	PROT:P09619	PDGFRB	Y	562	N	Y562N	Likely pathogenic	1	1	23	0
MUT:PDGFRB:Tyr562Asp	PROT:P09619	PDGFRB	Y	562	D	Y562D	Pathogenic	1	1	23	0
MUT:PDGFRB:Val316Met	PROT:P09619	PDGFRB	V	316	M	V316M	Benign/Likely benign	0	2	23	246
MUT:PDGFRB:Val35Ile	PROT:P09619	PDGFRB	V	35	I	V35I	Likely benign	0	1	23	527
MUT:PDGFRB:Val43Ala	PROT:P09619	PDGFRB	V	43	A	V43A	Likely benign	0	1	23	519
MUT:PDGFRB:Val46Ile	PROT:P09619	PDGFRB	V	46	I	V46I	Likely benign	0	1	23	516
MUT:PDGFRB:Val491Ala	PROT:P09619	PDGFRB	V	491	A	V491A	Likely benign	0	1	23	71
MUT:PDGFRB:Val665Ala	PROT:P09619	PDGFRB	V	665	A	V665A	Pathogenic	1	1	23	20
MUT:PDGFRB:Val84Met	PROT:P09619	PDGFRB	V	84	M	V84M	Benign	0	1	23	478
MUT:PDHA1:Ala136Val	PROT:P08559	PDHA1	A	136	V	A136V	Likely pathogenic	1	1	30	3
MUT:PDHA1:Ala169Val	PROT:P08559	PDHA1	A	169	V	A169V	Pathogenic	1	2	30	30
MUT:PDHA1:Ala175Pro	PROT:P08559	PDHA1	A	175	P	A175P	Likely pathogenic	1	1	30	36
MUT:PDHA1:Ala175Thr	PROT:P08559	PDHA1	A	175	T	A175T	Pathogenic	1	1	30	36
MUT:PDHA1:Ala198Thr	PROT:P08559	PDHA1	A	198	T	A198T	Pathogenic	1	1	30	29
MUT:PDHA1:Ala198Val	PROT:P08559	PDHA1	A	198	V	A198V	Likely pathogenic	1	1	30	29
MUT:PDHA1:Ala199Thr	PROT:P08559	PDHA1	A	199	T	A199T	Pathogenic	1	1	30	28
MUT:PDHA1:Ala207Pro	PROT:P08559	PDHA1	A	207	P	A207P	Likely pathogenic	1	1	30	20
MUT:PDHA1:Ala236Glu	PROT:P08559	PDHA1	A	236	E	A236E	Likely pathogenic	1	1	30	3
MUT:PDHA1:Ala330Gly	PROT:P08559	PDHA1	A	330	G	A330G	Likely pathogenic	1	1	30	3
MUT:PDHA1:Ala353Pro	PROT:P08559	PDHA1	A	353	P	A353P	Likely pathogenic	1	1	30	9
MUT:PDHA1:Ala353Thr	PROT:P08559	PDHA1	A	353	T	A353T	Likely pathogenic	1	1	30	9
MUT:PDHA1:Arg10Pro	PROT:P08559	PDHA1	R	10	P	R10P	Pathogenic/Likely pathogenic	1	1	30	8
MUT:PDHA1:Arg119Trp	PROT:P08559	PDHA1	R	119	W	R119W	Pathogenic/Likely pathogenic	1	1	30	1
MUT:PDHA1:Arg127Gln	PROT:P08559	PDHA1	R	127	Q	R127Q	Pathogenic/Likely pathogenic	1	2	30	9
MUT:PDHA1:Arg127Trp	PROT:P08559	PDHA1	R	127	W	R127W	Pathogenic/Likely pathogenic	1	1	30	9
MUT:PDHA1:Arg141Gln	PROT:P08559	PDHA1	R	141	Q	R141Q	Pathogenic/Likely pathogenic	1	1	30	2
MUT:PDHA1:Arg141Gly	PROT:P08559	PDHA1	R	141	G	R141G	Likely pathogenic	1	1	30	2
MUT:PDHA1:Arg141Leu	PROT:P08559	PDHA1	R	141	L	R141L	Pathogenic	1	1	30	2
MUT:PDHA1:Arg226His	PROT:P08559	PDHA1	R	226	H	R226H	Likely pathogenic	1	2	30	1
MUT:PDHA1:Arg235Gly	PROT:P08559	PDHA1	R	235	G	R235G	Pathogenic	1	1	30	3
MUT:PDHA1:Arg245Gly	PROT:P08559	PDHA1	R	245	G	R245G	Likely pathogenic	1	2	30	1
MUT:PDHA1:Arg245Lys	PROT:P08559	PDHA1	R	245	K	R245K	Likely pathogenic	1	1	30	1
MUT:PDHA1:Arg245Ser	PROT:P08559	PDHA1	R	245	S	R245S	Pathogenic	1	1	30	1
MUT:PDHA1:Arg253Gly	PROT:P08559	PDHA1	R	253	G	R253G	Pathogenic	1	1	30	9
MUT:PDHA1:Arg263Gln	PROT:P08559	PDHA1	R	263	Q	R263Q	Pathogenic	1	1	30	19
MUT:PDHA1:Arg263Gly	PROT:P08559	PDHA1	R	263	G	R263G	Pathogenic	1	1	30	19
MUT:PDHA1:Arg263Leu	PROT:P08559	PDHA1	R	263	L	R263L	Likely pathogenic	1	1	30	19
MUT:PDHA1:Arg288Cys	PROT:P08559	PDHA1	R	288	C	R288C	Pathogenic/Likely pathogenic	1	1	30	1
MUT:PDHA1:Arg288His	PROT:P08559	PDHA1	R	288	H	R288H	Pathogenic	1	2	30	1
MUT:PDHA1:Arg288Leu	PROT:P08559	PDHA1	R	288	L	R288L	Likely pathogenic	1	1	30	1
MUT:PDHA1:Arg288Ser	PROT:P08559	PDHA1	R	288	S	R288S	Pathogenic	1	1	30	1
MUT:PDHA1:Arg2Thr	PROT:P08559	PDHA1	R	2	T	R2T	Likely benign	0	1	30	16
MUT:PDHA1:Arg302Cys	PROT:P08559	PDHA1	R	302	C	R302C	Pathogenic	1	2	30	1
MUT:PDHA1:Arg302His	PROT:P08559	PDHA1	R	302	H	R302H	Pathogenic/Likely pathogenic	1	1	30	1
MUT:PDHA1:Arg302Leu	PROT:P08559	PDHA1	R	302	L	R302L	Pathogenic	1	1	30	1
MUT:PDHA1:Arg378Cys	PROT:P08559	PDHA1	R	378	C	R378C	Pathogenic	1	3	30	9
MUT:PDHA1:Arg378His	PROT:P08559	PDHA1	R	378	H	R378H	Pathogenic/Likely pathogenic	1	2	30	9
MUT:PDHA1:Arg45Gln	PROT:P08559	PDHA1	R	45	Q	R45Q	Likely benign	0	1	30	18
MUT:PDHA1:Arg72Cys	PROT:P08559	PDHA1	R	72	C	R72C	Likely pathogenic	1	3	30	5
MUT:PDHA1:Arg88Cys	PROT:P08559	PDHA1	R	88	C	R88C	Pathogenic	1	1	30	11
MUT:PDHA1:Arg88Ser	PROT:P08559	PDHA1	R	88	S	R88S	Pathogenic	1	1	30	11
MUT:PDHA1:Asn164Asp	PROT:P08559	PDHA1	N	164	D	N164D	Likely pathogenic	1	1	30	25
MUT:PDHA1:Asn164Ser	PROT:P08559	PDHA1	N	164	S	N164S	Pathogenic/Likely pathogenic	1	2	30	25
MUT:PDHA1:Asn200Thr	PROT:P08559	PDHA1	N	200	T	N200T	Likely pathogenic	1	1	30	27
MUT:PDHA1:Asn209Ser	PROT:P08559	PDHA1	N	209	S	N209S	Likely pathogenic	1	1	30	18
MUT:PDHA1:Asn328Ser	PROT:P08559	PDHA1	N	328	S	N328S	Likely benign	0	1	30	1
MUT:PDHA1:Asp112Gly	PROT:P08559	PDHA1	D	112	G	D112G	Likely pathogenic	1	1	30	4
MUT:PDHA1:Asp196Asn	PROT:P08559	PDHA1	D	196	N	D196N	Likely pathogenic	1	1	30	31
MUT:PDHA1:Asp258Ala	PROT:P08559	PDHA1	D	258	A	D258A	Pathogenic	1	1	30	14
MUT:PDHA1:Asp296Asn	PROT:P08559	PDHA1	D	296	N	D296N	Pathogenic	1	1	30	1
MUT:PDHA1:Asp296Glu	PROT:P08559	PDHA1	D	296	E	D296E	Pathogenic	1	1	30	1
MUT:PDHA1:Asp315Asn	PROT:P08559	PDHA1	D	315	N	D315N	Likely pathogenic	1	1	30	1
MUT:PDHA1:Asp33His	PROT:P08559	PDHA1	D	33	H	D33H	Benign/Likely benign	0	2	30	15
MUT:PDHA1:Asp372Asn	PROT:P08559	PDHA1	D	372	N	D372N	Benign/Likely benign	0	2	30	3
MUT:PDHA1:Asp42Glu	PROT:P08559	PDHA1	D	42	E	D42E	Likely benign	0	2	30	21
MUT:PDHA1:Cys101Arg	PROT:P08559	PDHA1	C	101	R	C101R	Likely pathogenic	1	1	30	15
MUT:PDHA1:Cys101Phe	PROT:P08559	PDHA1	C	101	F	C101F	Pathogenic	1	1	30	15
MUT:PDHA1:Cys181Tyr	PROT:P08559	PDHA1	C	181	Y	C181Y	Pathogenic	1	1	30	42
MUT:PDHA1:Cys218Tyr	PROT:P08559	PDHA1	C	218	Y	C218Y	Pathogenic	1	1	30	9
MUT:PDHA1:Cys91Ser	PROT:P08559	PDHA1	C	91	S	C91S	Likely pathogenic	1	1	30	14
MUT:PDHA1:Gln308His	PROT:P08559	PDHA1	Q	308	H	Q308H	Likely pathogenic	1	1	30	5
MUT:PDHA1:Gln351Pro	PROT:P08559	PDHA1	Q	351	P	Q351P	Likely pathogenic	1	1	30	7
MUT:PDHA1:Glu137Gln	PROT:P08559	PDHA1	E	137	Q	E137Q	Likely pathogenic	1	1	30	2
MUT:PDHA1:Glu137Gly	PROT:P08559	PDHA1	E	137	G	E137G	Likely pathogenic	1	1	30	2
MUT:PDHA1:Glu137Lys	PROT:P08559	PDHA1	E	137	K	E137K	Likely pathogenic	1	1	30	2
MUT:PDHA1:Glu188Lys	PROT:P08559	PDHA1	E	188	K	E188K	Pathogenic	1	1	30	39
MUT:PDHA1:Glu206Gln	PROT:P08559	PDHA1	E	206	Q	E206Q	Likely pathogenic	1	1	30	21
MUT:PDHA1:Glu206Lys	PROT:P08559	PDHA1	E	206	K	E206K	Pathogenic	1	1	30	21
MUT:PDHA1:Glu283Lys	PROT:P08559	PDHA1	E	283	K	E283K	Pathogenic	1	1	30	6
MUT:PDHA1:Glu333Asp	PROT:P08559	PDHA1	E	333	D	E333D	Benign	0	3	30	6
MUT:PDHA1:Glu358Lys	PROT:P08559	PDHA1	E	358	K	E358K	Likely pathogenic	1	1	30	11
MUT:PDHA1:Glu47Lys	PROT:P08559	PDHA1	E	47	K	E47K	Likely benign	0	1	30	16
MUT:PDHA1:Glu75Ala	PROT:P08559	PDHA1	E	75	A	E75A	Pathogenic	1	1	30	2
MUT:PDHA1:Glu75Asp	PROT:P08559	PDHA1	E	75	D	E75D	Pathogenic	1	2	30	2
MUT:PDHA1:Glu75Gly	PROT:P08559	PDHA1	E	75	G	E75G	Likely pathogenic	1	1	30	2
MUT:PDHA1:Glu75Val	PROT:P08559	PDHA1	E	75	V	E75V	Likely pathogenic	1	1	30	2
MUT:PDHA1:Gly122Arg	PROT:P08559	PDHA1	G	122	R	G122R	Likely pathogenic	1	1	30	4
MUT:PDHA1:Gly122Ser	PROT:P08559	PDHA1	G	122	S	G122S	Likely pathogenic	1	1	30	4
MUT:PDHA1:Gly128Asp	PROT:P08559	PDHA1	G	128	D	G128D	Likely pathogenic	1	1	30	10
MUT:PDHA1:Gly144Arg	PROT:P08559	PDHA1	G	144	R	G144R	Likely pathogenic	1	1	30	5
MUT:PDHA1:Gly144Asp	PROT:P08559	PDHA1	G	144	D	G144D	Likely pathogenic	1	1	30	5
MUT:PDHA1:Gly144Ser	PROT:P08559	PDHA1	G	144	S	G144S	Likely pathogenic	1	1	30	5
MUT:PDHA1:Gly148Arg	PROT:P08559	PDHA1	G	148	R	G148R	Pathogenic	1	1	30	9
MUT:PDHA1:Gly150Glu	PROT:P08559	PDHA1	G	150	E	G150E	Pathogenic	1	1	30	11
MUT:PDHA1:Gly151Arg	PROT:P08559	PDHA1	G	151	R	G151R	Likely pathogenic	1	1	30	12
MUT:PDHA1:Gly162Arg	PROT:P08559	PDHA1	G	162	R	G162R	Pathogenic	1	1	30	23
MUT:PDHA1:Gly174Arg	PROT:P08559	PDHA1	G	174	R	G174R	Likely pathogenic	1	1	30	35
MUT:PDHA1:Gly195Ala	PROT:P08559	PDHA1	G	195	A	G195A	Pathogenic	1	1	30	32
MUT:PDHA1:Gly230Arg	PROT:P08559	PDHA1	G	230	R	G230R	Likely pathogenic	1	1	30	1
MUT:PDHA1:Gly278Arg	PROT:P08559	PDHA1	G	278	R	G278R	Pathogenic/Likely pathogenic	1	2	30	11
MUT:PDHA1:Gly278Glu	PROT:P08559	PDHA1	G	278	E	G278E	Likely pathogenic	1	1	30	11
MUT:PDHA1:Gly298Arg	PROT:P08559	PDHA1	G	298	R	G298R	Likely pathogenic	1	1	30	2
MUT:PDHA1:Gly298Glu	PROT:P08559	PDHA1	G	298	E	G298E	Pathogenic	1	1	30	2
MUT:PDHA1:Gly379Val	PROT:P08559	PDHA1	G	379	V	G379V	Likely pathogenic	1	1	30	10
MUT:PDHA1:His113Asp	PROT:P08559	PDHA1	H	113	D	H113D	Likely pathogenic	1	1	30	3
MUT:PDHA1:His121Gln	PROT:P08559	PDHA1	H	121	Q	H121Q	Pathogenic	1	1	30	3
MUT:PDHA1:His154Arg	PROT:P08559	PDHA1	H	154	R	H154R	Likely pathogenic	1	1	30	15
MUT:PDHA1:His290Pro	PROT:P08559	PDHA1	H	290	P	H290P	Likely pathogenic	1	1	30	1
MUT:PDHA1:His290Tyr	PROT:P08559	PDHA1	H	290	Y	H290Y	Likely pathogenic	1	1	30	1
MUT:PDHA1:His292Leu	PROT:P08559	PDHA1	H	292	L	H292L	Pathogenic	1	1	30	1
MUT:PDHA1:His367Arg	PROT:P08559	PDHA1	H	367	R	H367R	Likely pathogenic	1	1	30	2
MUT:PDHA1:His367Leu	PROT:P08559	PDHA1	H	367	L	H367L	Pathogenic	1	1	30	2
MUT:PDHA1:His367Tyr	PROT:P08559	PDHA1	H	367	Y	H367Y	Likely benign	0	1	30	2
MUT:PDHA1:His44Arg	PROT:P08559	PDHA1	H	44	R	H44R	Likely pathogenic	1	1	30	19
MUT:PDHA1:Ile177Thr	PROT:P08559	PDHA1	I	177	T	I177T	Pathogenic	1	1	30	38
MUT:PDHA1:Ile87Met	PROT:P08559	PDHA1	I	87	M	I87M	Pathogenic	1	1	30	10
MUT:PDHA1:Ile87Thr	PROT:P08559	PDHA1	I	87	T	I87T	Likely pathogenic	1	1	30	10
MUT:PDHA1:Leu138Phe	PROT:P08559	PDHA1	L	138	F	L138F	Pathogenic	1	1	30	1
MUT:PDHA1:Leu173Pro	PROT:P08559	PDHA1	L	173	P	L173P	Likely pathogenic	1	1	30	34
MUT:PDHA1:Leu179Arg	PROT:P08559	PDHA1	L	179	R	L179R	Likely pathogenic	1	1	30	40
MUT:PDHA1:Leu216Phe	PROT:P08559	PDHA1	L	216	F	L216F	Pathogenic/Likely pathogenic	1	1	30	11
MUT:PDHA1:Leu216Ser	PROT:P08559	PDHA1	L	216	S	L216S	Pathogenic	1	1	30	11
MUT:PDHA1:Leu252Val	PROT:P08559	PDHA1	L	252	V	L252V	Likely pathogenic	1	1	30	8
MUT:PDHA1:Leu260Val	PROT:P08559	PDHA1	L	260	V	L260V	Pathogenic	1	1	30	16
MUT:PDHA1:Leu329Arg	PROT:P08559	PDHA1	L	329	R	L329R	Likely pathogenic	1	1	30	2
MUT:PDHA1:Lys215Gln	PROT:P08559	PDHA1	K	215	Q	K215Q	Likely pathogenic	1	1	30	12
MUT:PDHA1:Met153Val	PROT:P08559	PDHA1	M	153	V	M153V	Pathogenic	1	1	30	14
MUT:PDHA1:Met155Ile	PROT:P08559	PDHA1	M	155	I	M155I	Likely pathogenic	1	1	30	16
MUT:PDHA1:Met155Thr	PROT:P08559	PDHA1	M	155	T	M155T	Pathogenic	1	1	30	16
MUT:PDHA1:Met210Thr	PROT:P08559	PDHA1	M	210	T	M210T	Pathogenic	1	1	30	17
MUT:PDHA1:Met229Ile	PROT:P08559	PDHA1	M	229	I	M229I	Pathogenic	1	1	30	2
MUT:PDHA1:Met229Leu	PROT:P08559	PDHA1	M	229	L	M229L	Likely pathogenic	1	1	30	2
MUT:PDHA1:Met282Arg	PROT:P08559	PDHA1	M	282	R	M282R	Pathogenic	1	1	30	7
MUT:PDHA1:Met282Leu	PROT:P08559	PDHA1	M	282	L	M282L	Benign	0	2	30	7
MUT:PDHA1:Met282Val	PROT:P08559	PDHA1	M	282	V	M282V	Pathogenic	1	1	30	7
MUT:PDHA1:Phe160Asn	PROT:P08559	PDHA1	F	160	N	F160N	Likely pathogenic	1	1	30	21
MUT:PDHA1:Phe205Leu	PROT:P08559	PDHA1	F	205	L	F205L	Pathogenic/Likely pathogenic	1	1	30	22
MUT:PDHA1:Phe90Ser	PROT:P08559	PDHA1	F	90	S	F90S	Likely pathogenic	1	1	30	13
MUT:PDHA1:Pro110His	PROT:P08559	PDHA1	P	110	H	P110H	Pathogenic	1	1	30	6
MUT:PDHA1:Pro172Leu	PROT:P08559	PDHA1	P	172	L	P172L	Pathogenic	1	1	30	33
MUT:PDHA1:Pro217Ala	PROT:P08559	PDHA1	P	217	A	P217A	Likely pathogenic	1	1	30	10
MUT:PDHA1:Pro217Arg	PROT:P08559	PDHA1	P	217	R	P217R	Pathogenic	1	1	30	10
MUT:PDHA1:Pro217Leu	PROT:P08559	PDHA1	P	217	L	P217L	Pathogenic	1	1	30	10
MUT:PDHA1:Pro217Thr	PROT:P08559	PDHA1	P	217	T	P217T	Likely pathogenic	1	1	30	10
MUT:PDHA1:Pro250Leu	PROT:P08559	PDHA1	P	250	L	P250L	Likely pathogenic	1	1	30	6
MUT:PDHA1:Pro250Thr	PROT:P08559	PDHA1	P	250	T	P250T	Likely pathogenic	1	1	30	6
MUT:PDHA1:Pro316Leu	PROT:P08559	PDHA1	P	316	L	P316L	Pathogenic	1	1	30	2
MUT:PDHA1:Pro50Arg	PROT:P08559	PDHA1	P	50	R	P50R	Likely pathogenic	1	1	30	13
MUT:PDHA1:Pro50Ser	PROT:P08559	PDHA1	P	50	S	P50S	Likely pathogenic	1	1	30	13
MUT:PDHA1:Ser152Leu	PROT:P08559	PDHA1	S	152	L	S152L	Likely pathogenic	1	1	30	13
MUT:PDHA1:Ser152Pro	PROT:P08559	PDHA1	S	152	P	S152P	Likely pathogenic	1	1	30	13
MUT:PDHA1:Ser152Thr	PROT:P08559	PDHA1	S	152	T	S152T	Likely pathogenic	1	1	30	13
MUT:PDHA1:Ser295Gly	PROT:P08559	PDHA1	S	295	G	S295G	Pathogenic	1	1	30	0
MUT:PDHA1:Ser314Cys	PROT:P08559	PDHA1	S	314	C	S314C	Likely pathogenic	1	1	30	0
MUT:PDHA1:Ser388Pro	PROT:P08559	PDHA1	S	388	P	S388P	Likely pathogenic	1	1	30	19
MUT:PDHA1:Thr111Ile	PROT:P08559	PDHA1	T	111	I	T111I	Likely pathogenic	1	1	30	5
MUT:PDHA1:Thr139Arg	PROT:P08559	PDHA1	T	139	R	T139R	Likely pathogenic	1	1	30	0
MUT:PDHA1:Thr231Ala	PROT:P08559	PDHA1	T	231	A	T231A	Pathogenic	1	1	30	0
MUT:PDHA1:Thr231Arg	PROT:P08559	PDHA1	T	231	R	T231R	Pathogenic/Likely pathogenic	1	1	30	0
MUT:PDHA1:Thr231Lys	PROT:P08559	PDHA1	T	231	K	T231K	Likely pathogenic	1	1	30	0
MUT:PDHA1:Thr354Ala	PROT:P08559	PDHA1	T	354	A	T354A	Likely benign	0	1	30	10
MUT:PDHA1:Thr354Pro	PROT:P08559	PDHA1	T	354	P	T354P	Likely pathogenic	1	1	30	10
MUT:PDHA1:Trp214Arg	PROT:P08559	PDHA1	W	214	R	W214R	Likely pathogenic	1	1	30	13
MUT:PDHA1:Trp214Cys	PROT:P08559	PDHA1	W	214	C	W214C	Pathogenic	1	1	30	13
MUT:PDHA1:Trp214Gly	PROT:P08559	PDHA1	W	214	G	W214G	Likely pathogenic	1	1	30	13
MUT:PDHA1:Trp383Arg	PROT:P08559	PDHA1	W	383	R	W383R	Pathogenic	1	1	30	14
MUT:PDHA1:Tyr161Cys	PROT:P08559	PDHA1	Y	161	C	Y161C	Pathogenic	1	1	30	22
MUT:PDHA1:Tyr227Cys	PROT:P08559	PDHA1	Y	227	C	Y227C	Likely pathogenic	1	1	30	0
MUT:PDHA1:Tyr227His	PROT:P08559	PDHA1	Y	227	H	Y227H	Likely pathogenic	1	1	30	0
MUT:PDHA1:Tyr243Asn	PROT:P08559	PDHA1	Y	243	N	Y243N	Pathogenic	1	1	30	0
MUT:PDHA1:Tyr243Cys	PROT:P08559	PDHA1	Y	243	C	Y243C	Pathogenic	1	1	30	0
MUT:PDHA1:Tyr243Ser	PROT:P08559	PDHA1	Y	243	S	Y243S	Pathogenic	1	1	30	0
MUT:PDHA1:Tyr369His	PROT:P08559	PDHA1	Y	369	H	Y369H	Likely pathogenic	1	1	30	0
MUT:PDHA1:Tyr65Gln	PROT:P08559	PDHA1	Y	65	Q	Y65Q	Pathogenic	1	1	30	2
MUT:PDHA1:Val167Met	PROT:P08559	PDHA1	V	167	M	V167M	Pathogenic/Likely pathogenic	1	2	30	28
MUT:PDHA1:Val171Met	PROT:P08559	PDHA1	V	171	M	V171M	Likely pathogenic	1	1	30	32
MUT:PDHA1:Val262Ile	PROT:P08559	PDHA1	V	262	I	V262I	Benign/Likely benign	0	2	30	18
MUT:PDHA1:Val262Leu	PROT:P08559	PDHA1	V	262	L	V262L	Likely pathogenic	1	1	30	18
MUT:PDHA1:Val71Ala	PROT:P08559	PDHA1	V	71	A	V71A	Likely pathogenic	1	1	30	6
MUT:PDHA1:Val71Ile	PROT:P08559	PDHA1	V	71	I	V71I	Likely benign	0	1	30	6
MUT:PDHB:Ala3Val	PROT:P11177	PDHB	A	3	V	A3V	Likely benign	0	1	5	127
MUT:PDHB:Arg192Gln	PROT:P11177	PDHB	R	192	Q	R192Q	Likely pathogenic	1	2	5	62
MUT:PDHB:Asp37Glu	PROT:P11177	PDHB	D	37	E	D37E	Likely benign	0	1	5	93
MUT:PDHB:Leu104Val	PROT:P11177	PDHB	L	104	V	L104V	Likely pathogenic	1	6	5	26
MUT:PDHB:Met101Thr	PROT:P11177	PDHB	M	101	T	M101T	Pathogenic	1	1	5	29
MUT:PDHB:Met101Val	PROT:P11177	PDHB	M	101	V	M101V	Pathogenic	1	1	5	29
MUT:PDHB:Met1Thr	PROT:P11177	PDHB	M	1	T	M1T	Likely pathogenic	1	1	5	129
MUT:PDHB:Met1Val	PROT:P11177	PDHB	M	1	V	M1V	Pathogenic	1	1	5	129
MUT:PDHB:Pro139Ser	PROT:P11177	PDHB	P	139	S	P139S	Likely benign	0	1	5	9
MUT:PDHB:Pro344Ser	PROT:P11177	PDHB	P	344	S	P344S	Pathogenic	1	1	5	8
MUT:PDHB:Trp165Ser	PROT:P11177	PDHB	W	165	S	W165S	Pathogenic	1	1	5	35
MUT:PDHB:Tyr132Cys	PROT:P11177	PDHB	Y	132	C	Y132C	Likely pathogenic	1	1	5	2
MUT:PDIA4:Gln17Leu	PROT:P13667	PDIA4	Q	17	L	Q17L	Likely benign	0	1	33	146
MUT:PDK3:Arg332His	PROT:Q15120	PDK3	R	332	H	R332H	Likely benign	0	1	1	49
MUT:PDK3:Glu17Asp	PROT:Q15120	PDK3	E	17	D	E17D	Benign	0	2	1	364
MUT:PDK3:Gly173Trp	PROT:Q15120	PDK3	G	173	W	G173W	Likely benign	0	1	1	208
MUT:PDK3:Gly349Arg	PROT:Q15120	PDK3	G	349	R	G349R	Benign	0	1	1	32
MUT:PDK3:Lys410Gln	PROT:Q15120	PDK3	K	410	Q	K410Q	Benign/Likely benign	0	1	1	29
MUT:PDLIM3:Val233Leu	PROT:Q53GG5	PDLIM3	V	233	L	V233L	Likely benign	0	2	15	17
MUT:PDSS1:Asp308Glu	PROT:Q5T2R2	PDSS1	D	308	E	D308E	Pathogenic	1	1	3	204
MUT:PDSS1:Gln245His	PROT:Q5T2R2	PDSS1	Q	245	H	Q245H	Pathogenic	1	1	3	141
MUT:PDSS1:Gly223Val	PROT:Q5T2R2	PDSS1	G	223	V	G223V	Likely pathogenic	1	1	3	119
MUT:PDSS1:Gly30Val	PROT:Q5T2R2	PDSS1	G	30	V	G30V	Benign	0	1	3	67
MUT:PDSS1:Ile55Met	PROT:Q5T2R2	PDSS1	I	55	M	I55M	Likely benign	0	1	3	42
MUT:PDSS1:Phe136Cys	PROT:Q5T2R2	PDSS1	F	136	C	F136C	Benign	0	2	3	32
MUT:PDSS1:Ser370Arg	PROT:Q5T2R2	PDSS1	S	370	R	S370R	Pathogenic	1	1	3	266
MUT:PDSS1:Val239Gly	PROT:Q5T2R2	PDSS1	V	239	G	V239G	Pathogenic	1	1	3	135
MUT:PDX1:Arg148Gly	PROT:P52945	PDX1	R	148	G	R148G	Likely pathogenic	1	1	3	82
MUT:PDX1:Glu178Ala	PROT:P52945	PDX1	E	178	A	E178A	Likely pathogenic	1	1	3	112
MUT:PDX1:Glu178Gly	PROT:P52945	PDX1	E	178	G	E178G	Pathogenic	1	2	3	112
MUT:PDX1:Glu178Lys	PROT:P52945	PDX1	E	178	K	E178K	Pathogenic	1	1	3	112
MUT:PDX1:Lys163Arg	PROT:P52945	PDX1	K	163	R	K163R	Likely pathogenic	1	1	3	97
MUT:PDX1:Lys191Gln	PROT:P52945	PDX1	K	191	Q	K191Q	Likely pathogenic	1	1	3	125
MUT:PDXDC1:Asn608Thr	PROT:Q6P996	PDXDC1	N	608	T	N608T	Likely benign	0	1	31	7
MUT:PDXDC1:Ser533Asn	PROT:Q6P996	PDXDC1	S	533	N	S533N	Benign	0	1	31	35
MUT:PDXDC1:Ser721Asn	PROT:Q6P996	PDXDC1	S	721	N	S721N	Likely benign	0	1	31	0
MUT:PDXDC1:Val479Ile	PROT:Q6P996	PDXDC1	V	479	I	V479I	Likely benign	0	1	31	9
MUT:PDZD2:Ala1084Thr	PROT:O15018	PDZD2	A	1084	T	A1084T	Benign	0	1	29	53
MUT:PDZD2:Ala1649Val	PROT:O15018	PDZD2	A	1649	V	A1649V	Benign	0	1	29	55
MUT:PDZD2:Ala422Thr	PROT:O15018	PDZD2	A	422	T	A422T	Likely benign	0	1	29	1
MUT:PDZD2:Arg1471His	PROT:O15018	PDZD2	R	1471	H	R1471H	Likely benign	0	1	29	107
MUT:PDZD2:Arg215Gln	PROT:O15018	PDZD2	R	215	Q	R215Q	Likely benign	0	1	29	105
MUT:PDZD2:Arg2247Gln	PROT:O15018	PDZD2	R	2247	Q	R2247Q	Benign	0	1	29	88
MUT:PDZD2:Asn1213Asp	PROT:O15018	PDZD2	N	1213	D	N1213D	Benign	0	1	29	182
MUT:PDZD2:Asp1154His	PROT:O15018	PDZD2	D	1154	H	D1154H	Benign/Likely benign	0	1	29	123
MUT:PDZD2:Asp1343Glu	PROT:O15018	PDZD2	D	1343	E	D1343E	Benign	0	1	29	235
MUT:PDZD2:Asp6Asn	PROT:O15018	PDZD2	D	6	N	D6N	Benign	0	1	29	314
MUT:PDZD2:Asp966Asn	PROT:O15018	PDZD2	D	966	N	D966N	Likely benign	0	1	29	39
MUT:PDZD2:Gln1258Lys	PROT:O15018	PDZD2	Q	1258	K	Q1258K	Benign	0	1	29	227
MUT:PDZD2:Gln2275Arg	PROT:O15018	PDZD2	Q	2275	R	Q2275R	Benign	0	1	29	66
MUT:PDZD2:Glu1178Gly	PROT:O15018	PDZD2	E	1178	G	E1178G	Benign	0	1	29	147
MUT:PDZD2:Gly1576Ser	PROT:O15018	PDZD2	G	1576	S	G1576S	Likely benign	0	1	29	2
MUT:PDZD2:Gly2356Arg	PROT:O15018	PDZD2	G	2356	R	G2356R	Likely benign	0	1	29	15
MUT:PDZD2:His1286Asn	PROT:O15018	PDZD2	H	1286	N	H1286N	Benign	0	1	29	255
MUT:PDZD2:His292Arg	PROT:O15018	PDZD2	H	292	R	H292R	Benign	0	1	29	28
MUT:PDZD2:Ile1507Val	PROT:O15018	PDZD2	I	1507	V	I1507V	Likely benign	0	2	29	71
MUT:PDZD2:Ile2369Thr	PROT:O15018	PDZD2	I	2369	T	I2369T	Benign	0	1	29	28
MUT:PDZD2:Pro226Thr	PROT:O15018	PDZD2	P	226	T	P226T	Benign	0	1	29	94
MUT:PDZD2:Pro990Leu	PROT:O15018	PDZD2	P	990	L	P990L	Benign	0	1	29	15
MUT:PDZD2:Ser1106Phe	PROT:O15018	PDZD2	S	1106	F	S1106F	Benign	0	1	29	75
MUT:PDZD2:Ser1208Asn	PROT:O15018	PDZD2	S	1208	N	S1208N	Benign	0	1	29	177
MUT:PDZD2:Thr1425Met	PROT:O15018	PDZD2	T	1425	M	T1425M	Benign	0	1	29	153
MUT:PDZD2:Thr56Met	PROT:O15018	PDZD2	T	56	M	T56M	Benign	0	1	29	264
MUT:PDZD2:Thr718Asn	PROT:O15018	PDZD2	T	718	N	T718N	Benign	0	1	29	150
MUT:PDZD2:Tyr160Phe	PROT:O15018	PDZD2	Y	160	F	Y160F	Likely benign	0	1	29	160
MUT:PDZD2:Val1014Ile	PROT:O15018	PDZD2	V	1014	I	V1014I	Likely benign	0	1	29	9
MUT:PDZD2:Val1121Met	PROT:O15018	PDZD2	V	1121	M	V1121M	Likely benign	0	1	29	90
MUT:PDZD2:Val2253Ala	PROT:O15018	PDZD2	V	2253	A	V2253A	Likely benign	0	1	29	88
MUT:PDZD8:Glu978Lys	PROT:Q8NEN9	PDZD8	E	978	K	E978K	Likely benign	0	1	8	2
MUT:PEAK1:Glu1166Asp	PROT:Q9H792	PEAK1	E	1166	D	E1166D	Benign	0	1	47	1
MUT:PEAK1:Ile1243Val	PROT:Q9H792	PEAK1	I	1243	V	I1243V	Benign	0	1	47	5
MUT:PEAK1:Lys1453Arg	PROT:Q9H792	PEAK1	K	1453	R	K1453R	Likely benign	0	1	47	79
MUT:PEAK1:Ser1104Asn	PROT:Q9H792	PEAK1	S	1104	N	S1104N	Likely benign	0	1	47	61
MUT:PEAK1:Ser440Pro	PROT:Q9H792	PEAK1	S	440	P	S440P	Likely benign	0	1	47	51
MUT:PEAK1:Thr1077Pro	PROT:Q9H792	PEAK1	T	1077	P	T1077P	Benign	0	1	47	39
MUT:PEAK1:Val771Met	PROT:Q9H792	PEAK1	V	771	M	V771M	Likely benign	0	1	47	8
MUT:PEPD:Ala212Pro	PROT:P12955	PEPD	A	212	P	A212P	Pathogenic/Likely pathogenic	1	1	8	24
MUT:PEPD:Ala432Thr	PROT:P12955	PEPD	A	432	T	A432T	Benign/Likely benign	0	2	8	244
MUT:PEPD:Arg148Cys	PROT:P12955	PEPD	R	148	C	R148C	Benign	0	1	8	19
MUT:PEPD:Arg184Gln	PROT:P12955	PEPD	R	184	Q	R184Q	Pathogenic	1	2	8	4
MUT:PEPD:Arg388His	PROT:P12955	PEPD	R	388	H	R388H	Benign/Likely benign	0	1	8	200
MUT:PEPD:Arg395Gln	PROT:P12955	PEPD	R	395	Q	R395Q	Likely benign	0	1	8	207
MUT:PEPD:Asp276Asn	PROT:P12955	PEPD	D	276	N	D276N	Pathogenic	1	1	8	88
MUT:PEPD:Asp419Gly	PROT:P12955	PEPD	D	419	G	D419G	Benign/Likely benign	0	1	8	231
MUT:PEPD:Glu170Val	PROT:P12955	PEPD	E	170	V	E170V	Benign	0	1	8	3
MUT:PEPD:Glu412Lys	PROT:P12955	PEPD	E	412	K	E412K	Pathogenic	1	1	8	224
MUT:PEPD:Gly278Asp	PROT:P12955	PEPD	G	278	D	G278D	Pathogenic/Likely pathogenic	1	1	8	90
MUT:PEPD:Gly318Ser	PROT:P12955	PEPD	G	318	S	G318S	Likely benign	0	1	8	130
MUT:PEPD:Gly448Arg	PROT:P12955	PEPD	G	448	R	G448R	Pathogenic/Likely pathogenic	1	1	8	260
MUT:PEPD:Ile288Thr	PROT:P12955	PEPD	I	288	T	I288T	Benign	0	2	8	100
MUT:PEPD:Ile462Thr	PROT:P12955	PEPD	I	462	T	I462T	Benign/Likely benign	0	1	8	274
MUT:PEPD:Leu368Arg	PROT:P12955	PEPD	L	368	R	L368R	Pathogenic/Likely pathogenic	1	1	8	180
MUT:PEPD:Leu435Phe	PROT:P12955	PEPD	L	435	F	L435F	Benign	0	1	8	247
MUT:PEPD:Met1Arg	PROT:P12955	PEPD	M	1	R	M1R	Pathogenic	1	1	8	35
MUT:PEPD:Met1Thr	PROT:P12955	PEPD	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	8	35
MUT:PEPD:Ser202Phe	PROT:P12955	PEPD	S	202	F	S202F	Pathogenic	1	1	8	14
MUT:PER3:Ala18Ser	PROT:P56645	PER3	A	18	S	A18S	Likely benign	0	1	11	462
MUT:PER3:Ala723Val	PROT:P56645	PER3	A	723	V	A723V	Likely benign	0	1	11	90
MUT:PER3:Arg749Trp	PROT:P56645	PER3	R	749	W	R749W	Benign	0	1	11	116
MUT:PER3:Leu812Pro	PROT:P56645	PER3	L	812	P	L812P	Likely benign	0	1	11	107
MUT:PER3:Met1037Thr	PROT:P56645	PER3	M	1037	T	M1037T	Likely benign	0	1	11	11
MUT:PER3:Thr1120Ile	PROT:P56645	PER3	T	1120	I	T1120I	Likely benign	0	1	11	1
MUT:PER3:Thr527Ala	PROT:P56645	PER3	T	527	A	T527A	Likely benign	0	1	11	45
MUT:PER3:Val647Gly	PROT:P56645	PER3	V	647	G	V647G	Likely benign	0	1	11	14
MUT:PEX11B:Cys153Tyr	PROT:O96011	PEX11B	C	153	Y	C153Y	Benign/Likely benign	0	1	9	5
MUT:PEX11B:Met1Val	PROT:O96011	PEX11B	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	9	42
MUT:PEX14:Ala117Ser	PROT:O75381	PEX14	A	117	S	A117S	Benign/Likely benign	0	6	23	78
MUT:PEX14:Arg320Lys	PROT:O75381	PEX14	R	320	K	R320K	Benign/Likely benign	0	2	23	15
MUT:PEX14:His336Arg	PROT:O75381	PEX14	H	336	R	H336R	Likely benign	0	1	23	1
MUT:PEX14:Leu134Val	PROT:O75381	PEX14	L	134	V	L134V	Benign/Likely benign	0	3	23	61
MUT:PEX14:Ser70Ala	PROT:O75381	PEX14	S	70	A	S70A	Benign/Likely benign	0	2	23	36
MUT:PEX14:Val159Met	PROT:O75381	PEX14	V	159	M	V159M	Benign	0	2	23	36
MUT:PEX2:Ala245Thr	PROT:P28328	PEX2	A	245	T	A245T	Benign	0	2	3	145
MUT:PEX2:Arg160Lys	PROT:P28328	PEX2	R	160	K	R160K	Likely benign	0	1	3	60
MUT:PEX2:Cys184Arg	PROT:P28328	PEX2	C	184	R	C184R	Benign	0	3	3	84
MUT:PEX2:Cys247Arg	PROT:P28328	PEX2	C	247	R	C247R	Pathogenic	1	1	3	147
MUT:PEX2:Glu55Lys	PROT:P28328	PEX2	E	55	K	E55K	Likely pathogenic	1	2	3	29
MUT:PEX3:Asp347Tyr	PROT:P56589	PEX3	D	347	Y	D347Y	Likely pathogenic	1	1	5	126
MUT:PEX3:Gln82Arg	PROT:P56589	PEX3	Q	82	R	Q82R	Benign/Likely benign	0	1	5	115
MUT:PEX3:Gly25Val	PROT:P56589	PEX3	G	25	V	G25V	Likely pathogenic	1	1	5	172
MUT:PEX3:Thr282Pro	PROT:P56589	PEX3	T	282	P	T282P	Likely pathogenic	1	1	5	61
MUT:PEX7:Ala218Val	PROT:O00628	PEX7	A	218	V	A218V	Pathogenic/Likely pathogenic	1	4	3	32
MUT:PEX7:Asp134Asn	PROT:O00628	PEX7	D	134	N	D134N	Pathogenic/Likely pathogenic	1	3	3	52
MUT:PEX7:Asp177Glu	PROT:O00628	PEX7	D	177	E	D177E	Likely pathogenic	1	1	3	9
MUT:PEX7:Cys86Tyr	PROT:O00628	PEX7	C	86	Y	C86Y	Likely pathogenic	1	2	3	100
MUT:PEX7:Gln126Pro	PROT:O00628	PEX7	Q	126	P	Q126P	Benign/Likely benign	0	4	3	60
MUT:PEX7:Gly217Arg	PROT:O00628	PEX7	G	217	R	G217R	Pathogenic/Likely pathogenic	1	3	3	31
MUT:PEX7:His285Arg	PROT:O00628	PEX7	H	285	R	H285R	Pathogenic/Likely pathogenic	1	2	3	25
MUT:PEX7:Leu70Trp	PROT:O00628	PEX7	L	70	W	L70W	Likely pathogenic	1	1	3	116
MUT:PEX7:Thr14Pro	PROT:O00628	PEX7	T	14	P	T14P	Pathogenic/Likely pathogenic	1	3	3	172
MUT:PEX7:Trp95Gly	PROT:O00628	PEX7	W	95	G	W95G	Pathogenic	1	1	3	91
MUT:PEX7:Tyr20Cys	PROT:O00628	PEX7	Y	20	C	Y20C	Likely benign	0	1	3	166
MUT:PFAS:Arg811Trp	PROT:O15067	PFAS	R	811	W	R811W	Likely pathogenic	1	1	18	128
MUT:PFAS:Asn264Lys	PROT:O15067	PFAS	N	264	K	N264K	Likely pathogenic	1	1	18	15
MUT:PFKL:Asp705Glu	PROT:P17858	PFKL	D	705	E	D705E	Likely benign	0	1	18	8
MUT:PFKM:Arg100Gln	PROT:P08237	PFKM	R	100	Q	R100Q	Benign/Likely benign	0	1	31	30
MUT:PFKM:Arg376Gln	PROT:P08237	PFKM	R	376	Q	R376Q	Pathogenic/Likely pathogenic	1	1	31	1
MUT:PFKM:Arg39Gln	PROT:P08237	PFKM	R	39	Q	R39Q	Likely pathogenic	1	1	31	23
MUT:PFKM:Arg39Leu	PROT:P08237	PFKM	R	39	L	R39L	Pathogenic	1	1	31	23
MUT:PFKM:Arg39Pro	PROT:P08237	PFKM	R	39	P	R39P	Pathogenic/Likely pathogenic	1	1	31	23
MUT:PFKM:Arg696His	PROT:P08237	PFKM	R	696	H	R696H	Benign/Likely benign	0	1	31	14
MUT:PFKM:Asp591Ala	PROT:P08237	PFKM	D	591	A	D591A	Likely pathogenic	1	1	31	24
MUT:PFKM:Gln76Lys	PROT:P08237	PFKM	Q	76	K	Q76K	Benign	0	1	31	54
MUT:PFKM:Gly209Asp	PROT:P08237	PFKM	G	209	D	G209D	Likely pathogenic	1	1	31	7
MUT:PFKM:His2Leu	PROT:P08237	PFKM	H	2	L	H2L	Benign	0	1	31	0
MUT:PFKM:Lys727Gln	PROT:P08237	PFKM	K	727	Q	K727Q	Likely benign	0	1	31	0
MUT:PFKM:Ser180Cys	PROT:P08237	PFKM	S	180	C	S180C	Likely pathogenic	1	1	31	22
MUT:PFKM:Trp686Cys	PROT:P08237	PFKM	W	686	C	W686C	Pathogenic	1	1	31	4
MUT:PFKM:Val335Ala	PROT:P08237	PFKM	V	335	A	V335A	Benign	0	1	31	31
MUT:PFKP:Lys709Ile	PROT:Q01813	PFKP	K	709	I	K709I	Likely benign	0	1	33	21
MUT:PFN1:Cys71Gly	PROT:P07737	PFN1	C	71	G	C71G	Pathogenic	1	1	27	1
MUT:PFN1:Glu117Asp	PROT:P07737	PFN1	E	117	D	E117D	Benign/Likely benign	0	1	27	1
MUT:PFN1:Gly118Val	PROT:P07737	PFN1	G	118	V	G118V	Pathogenic	1	1	27	2
MUT:PFN1:Met114Arg	PROT:P07737	PFN1	M	114	R	M114R	Likely pathogenic	1	1	27	2
MUT:PFN1:Met114Thr	PROT:P07737	PFN1	M	114	T	M114T	Pathogenic	1	2	27	2
MUT:PGAP1:Ala63Thr	PROT:Q75T13	PGAP1	A	63	T	A63T	Likely benign	0	1	4	96
MUT:PGAP1:Arg447His	PROT:Q75T13	PGAP1	R	447	H	R447H	Likely benign	0	1	4	288
MUT:PGAP1:Gln585Glu	PROT:Q75T13	PGAP1	Q	585	E	Q585E	Benign/Likely benign	0	7	4	197
MUT:PGAP1:Ile104Val	PROT:Q75T13	PGAP1	I	104	V	I104V	Likely benign	0	2	4	55
MUT:PGAP1:Ile799Val	PROT:Q75T13	PGAP1	I	799	V	I799V	Likely benign	0	1	4	2
MUT:PGAP1:Pro912Ser	PROT:Q75T13	PGAP1	P	912	S	P912S	Benign/Likely benign	0	2	4	100
MUT:PGAP1:Thr883Ala	PROT:Q75T13	PGAP1	T	883	A	T883A	Benign/Likely benign	0	2	4	71
MUT:PGAP1:Val670Ile	PROT:Q75T13	PGAP1	V	670	I	V670I	Likely benign	0	1	4	112
MUT:PGM2L1:Arg237Lys	PROT:Q6PCE3	PGM2L1	R	237	K	R237K	Likely benign	0	1	1	168
MUT:PGM2L1:Thr522Ile	PROT:Q6PCE3	PGM2L1	T	522	I	T522I	Likely benign	0	1	1	453
MUT:PGM3:Asn17Ser	PROT:O95394	PGM3	N	17	S	N17S	Benign/Likely benign	0	1	23	9
MUT:PGM3:Asn246Ser	PROT:O95394	PGM3	N	246	S	N246S	Pathogenic/Likely pathogenic	1	2	23	2
MUT:PGM3:Asp239His	PROT:O95394	PGM3	D	239	H	D239H	Pathogenic	1	1	23	5
MUT:PGM3:Asp297Glu	PROT:O95394	PGM3	D	297	E	D297E	Pathogenic	1	1	23	22
MUT:PGM3:Asp466Asn	PROT:O95394	PGM3	D	466	N	D466N	Benign/Likely benign	0	1	23	3
MUT:PGM3:Asp502Tyr	PROT:O95394	PGM3	D	502	Y	D502Y	Pathogenic	1	2	23	2
MUT:PGM3:Gln451Arg	PROT:O95394	PGM3	Q	451	R	Q451R	Pathogenic	1	1	23	2
MUT:PGM3:Glu392Gln	PROT:O95394	PGM3	E	392	Q	E392Q	Likely benign	0	2	23	4
MUT:PGM3:Glu501Gln	PROT:O95394	PGM3	E	501	Q	E501Q	Likely pathogenic	1	1	23	1
MUT:PGM3:His521Tyr	PROT:O95394	PGM3	H	521	Y	H521Y	Likely benign	0	1	23	21
MUT:PGM3:Leu117Met	PROT:O95394	PGM3	L	117	M	L117M	Benign	0	1	23	25
MUT:PGM3:Leu156Phe	PROT:O95394	PGM3	L	156	F	L156F	Likely benign	0	1	23	21
MUT:PGM3:Leu83Ser	PROT:O95394	PGM3	L	83	S	L83S	Pathogenic	1	2	23	9
MUT:PGM3:Ser515Asn	PROT:O95394	PGM3	S	515	N	S515N	Likely benign	0	1	23	15
MUT:PGRMC1:Asp140His	PROT:O00264	PGRMC1	D	140	H	D140H	Likely pathogenic	1	1	14	4
MUT:PGRMC1:His165Arg	PROT:O00264	PGRMC1	H	165	R	H165R	Likely benign	0	1	14	2
MUT:PGRMC1:Met91Thr	PROT:O00264	PGRMC1	M	91	T	M91T	Likely pathogenic	1	1	14	5
MUT:PHB1:Arg43Leu	PROT:P35232	PHB1	R	43	L	R43L	Benign	0	15	18	39
MUT:PHB1:Val22Met	PROT:P35232	PHB1	V	22	M	V22M	Benign	0	1	18	18
MUT:PHC1:Ala704Thr	PROT:P78364	PHC1	A	704	T	A704T	Likely benign	0	1	7	40
MUT:PHC1:Leu992Phe	PROT:P78364	PHC1	L	992	F	L992F	Pathogenic/Likely pathogenic	1	1	7	5
MUT:PHC1:Thr693Ala	PROT:P78364	PHC1	T	693	A	T693A	Benign	0	1	7	29
MUT:PHF12:Ala887Gly	PROT:Q96QT6	PHF12	A	887	G	A887G	Likely benign	0	1	27	3
MUT:PHF5A:Met1Thr	PROT:Q7RTV0	PHF5A	M	1	T	M1T	Likely pathogenic	1	1	7	12
MUT:PHKA1:Arg802Gln	PROT:P46020	PHKA1	R	802	Q	R802Q	Likely benign	0	2	33	14
MUT:PHKA1:Arg821His	PROT:P46020	PHKA1	R	821	H	R821H	Benign/Likely benign	0	1	33	5
MUT:PHKA1:Asp160Asn	PROT:P46020	PHKA1	D	160	N	D160N	Benign/Likely benign	0	1	33	45
MUT:PHKA1:Asp299Val	PROT:P46020	PHKA1	D	299	V	D299V	Pathogenic	1	1	33	62
MUT:PHKA1:Asp381Asn	PROT:P46020	PHKA1	D	381	N	D381N	Benign/Likely benign	0	4	33	20
MUT:PHKA1:Asp756Ala	PROT:P46020	PHKA1	D	756	A	D756A	Likely benign	0	1	33	2
MUT:PHKA1:Gly223Arg	PROT:P46020	PHKA1	G	223	R	G223R	Pathogenic	1	1	33	108
MUT:PHKA1:Met1175Val	PROT:P46020	PHKA1	M	1175	V	M1175V	Benign	0	2	33	31
MUT:PHKA1:Met789Val	PROT:P46020	PHKA1	M	789	V	M789V	Benign	0	2	33	27
MUT:PHKA1:Pro738Ser	PROT:P46020	PHKA1	P	738	S	P738S	Likely benign	0	1	33	9
MUT:PHYH:Ala277Glu	PROT:O14832	PHYH	A	277	E	A277E	Pathogenic/Likely pathogenic	1	1	9	11
MUT:PHYH:Arg275Gln	PROT:O14832	PHYH	R	275	Q	R275Q	Pathogenic/Likely pathogenic	1	2	9	9
MUT:PHYH:Arg275Trp	PROT:O14832	PHYH	R	275	W	R275W	Pathogenic/Likely pathogenic	1	3	9	9
MUT:PHYH:Arg327Gln	PROT:O14832	PHYH	R	327	Q	R327Q	Likely benign	0	2	9	25
MUT:PHYH:Asn269His	PROT:O14832	PHYH	N	269	H	N269H	Pathogenic	1	1	9	3
MUT:PHYH:Gln176Lys	PROT:O14832	PHYH	Q	176	K	Q176K	Pathogenic	1	1	9	40
MUT:PHYH:Gly204Ser	PROT:O14832	PHYH	G	204	S	G204S	Likely pathogenic	1	2	9	12
MUT:PHYH:Gly215Ser	PROT:O14832	PHYH	G	215	S	G215S	Benign/Likely benign	0	1	9	1
MUT:PHYH:Pro29Ser	PROT:O14832	PHYH	P	29	S	P29S	Benign	0	1	9	78
MUT:PI3:Arg82Gln	PROT:P19957	PI3	R	82	Q	R82Q	Likely benign	0	1	3	57
MUT:PI4KB:Gln121Arg	PROT:Q9UBF8	PI4KB	Q	121	R	Q121R	Pathogenic	1	1	18	49
MUT:PI4KB:Glu682Lys	PROT:Q9UBF8	PI4KB	E	682	K	E682K	Pathogenic	1	1	18	74
MUT:PI4KB:Met754Arg	PROT:Q9UBF8	PI4KB	M	754	R	M754R	Pathogenic	1	1	18	146
MUT:PI4KB:Val449Gly	PROT:Q9UBF8	PI4KB	V	449	G	V449G	Pathogenic	1	1	18	9
MUT:PIAS1:Ser106Leu	PROT:O75925	PIAS1	S	106	L	S106L	Likely pathogenic	1	1	28	31
MUT:PIDD1:Ala166Thr	PROT:Q9HB75	PIDD1	A	166	T	A166T	Likely benign	0	1	5	68
MUT:PIDD1:Ala16Thr	PROT:Q9HB75	PIDD1	A	16	T	A16T	Likely benign	0	1	5	14
MUT:PIDD1:Arg261His	PROT:Q9HB75	PIDD1	R	261	H	R261H	Likely benign	0	1	5	163
MUT:PIDD1:Arg357Cys	PROT:Q9HB75	PIDD1	R	357	C	R357C	Likely benign	0	1	5	128
MUT:PIDD1:Arg497His	PROT:Q9HB75	PIDD1	R	497	H	R497H	Likely benign	0	1	5	12
MUT:PIDD1:Arg549Leu	PROT:Q9HB75	PIDD1	R	549	L	R549L	Likely benign	0	1	5	64
MUT:PIDD1:Arg652Trp	PROT:Q9HB75	PIDD1	R	652	W	R652W	Benign	0	1	5	13
MUT:PIDD1:Arg731Gln	PROT:Q9HB75	PIDD1	R	731	Q	R731Q	Likely benign	0	1	5	83
MUT:PIDD1:Arg815Trp	PROT:Q9HB75	PIDD1	R	815	W	R815W	Pathogenic	1	1	5	1
MUT:PIDD1:Arg862Trp	PROT:Q9HB75	PIDD1	R	862	W	R862W	Pathogenic	1	1	5	48
MUT:PIDD1:Arg877Cys	PROT:Q9HB75	PIDD1	R	877	C	R877C	Likely benign	0	1	5	63
MUT:PIDD1:Arg885Gln	PROT:Q9HB75	PIDD1	R	885	Q	R885Q	Likely benign	0	1	5	71
MUT:PIDD1:Asn457Asp	PROT:Q9HB75	PIDD1	N	457	D	N457D	Likely benign	0	1	5	28
MUT:PIDD1:Asn598Thr	PROT:Q9HB75	PIDD1	N	598	T	N598T	Likely benign	0	1	5	41
MUT:PIDD1:Gly217Ser	PROT:Q9HB75	PIDD1	G	217	S	G217S	Likely benign	0	1	5	119
MUT:PIDD1:Gly500Ser	PROT:Q9HB75	PIDD1	G	500	S	G500S	Likely benign	0	1	5	15
MUT:PIDD1:Ile542Val	PROT:Q9HB75	PIDD1	I	542	V	I542V	Likely benign	0	1	5	57
MUT:PIDD1:Leu245Ile	PROT:Q9HB75	PIDD1	L	245	I	L245I	Likely benign	0	1	5	147
MUT:PIDD1:Leu748Val	PROT:Q9HB75	PIDD1	L	748	V	L748V	Likely benign	0	1	5	66
MUT:PIDD1:Pro372Ser	PROT:Q9HB75	PIDD1	P	372	S	P372S	Likely benign	0	1	5	113
MUT:PIDD1:Pro482Ser	PROT:Q9HB75	PIDD1	P	482	S	P482S	Likely benign	0	1	5	3
MUT:PIDD1:Ser161Phe	PROT:Q9HB75	PIDD1	S	161	F	S161F	Benign	0	1	5	63
MUT:PIDD1:Ser527Ile	PROT:Q9HB75	PIDD1	S	527	I	S527I	Likely benign	0	1	5	42
MUT:PIDD1:Thr139Ser	PROT:Q9HB75	PIDD1	T	139	S	T139S	Benign	0	1	5	41
MUT:PIDD1:Thr659Met	PROT:Q9HB75	PIDD1	T	659	M	T659M	Likely benign	0	1	5	20
MUT:PIGC:Asp26Gly	PROT:Q92535	PIGC	D	26	G	D26G	Pathogenic	1	1	1	263
MUT:PIGC:Leu189Trp	PROT:Q92535	PIGC	L	189	W	L189W	Likely pathogenic	1	1	1	100
MUT:PIGC:Leu212Pro	PROT:Q92535	PIGC	L	212	P	L212P	Likely pathogenic	1	1	1	77
MUT:PIGC:Pro266Ser	PROT:Q92535	PIGC	P	266	S	P266S	Benign	0	1	1	23
MUT:PIGH:Met1Leu	PROT:Q14442	PIGH	M	1	L	M1L	Pathogenic	1	1	1	5
MUT:PIGH:Ser103Pro	PROT:Q14442	PIGH	S	103	P	S103P	Pathogenic	1	1	1	97
MUT:PIGK:Ala87Val	PROT:Q92643	PIGK	A	87	V	A87V	Pathogenic	1	1	9	11
MUT:PIGK:Asp204His	PROT:Q92643	PIGK	D	204	H	D204H	Pathogenic	1	1	9	11
MUT:PIGK:Cys275Arg	PROT:Q92643	PIGK	C	275	R	C275R	Pathogenic	1	1	9	21
MUT:PIGK:Ser21Ala	PROT:Q92643	PIGK	S	21	A	S21A	Likely benign	0	1	9	77
MUT:PIGK:Ser53Phe	PROT:Q92643	PIGK	S	53	F	S53F	Pathogenic	1	1	9	45
MUT:PIGK:Tyr160Ser	PROT:Q92643	PIGK	Y	160	S	Y160S	Pathogenic	1	1	9	5
MUT:PIGK:Val25Leu	PROT:Q92643	PIGK	V	25	L	V25L	Likely benign	0	1	9	73
MUT:PIGL:Arg235His	PROT:Q9Y2B2	PIGL	R	235	H	R235H	Likely benign	0	1	1	154
MUT:PIGL:Arg88Cys	PROT:Q9Y2B2	PIGL	R	88	C	R88C	Likely pathogenic	1	1	1	7
MUT:PIGL:Leu103Pro	PROT:Q9Y2B2	PIGL	L	103	P	L103P	Likely benign	0	1	1	22
MUT:PIGL:Leu167Pro	PROT:Q9Y2B2	PIGL	L	167	P	L167P	Pathogenic	1	3	1	86
MUT:PIGL:Phe146Leu	PROT:Q9Y2B2	PIGL	F	146	L	F146L	Likely pathogenic	1	1	1	65
MUT:PIGN:Ala56Val	PROT:O95427	PIGN	A	56	V	A56V	Benign	0	2	6	61
MUT:PIGN:Arg583Gln	PROT:O95427	PIGN	R	583	Q	R583Q	Benign/Likely benign	0	1	6	112
MUT:PIGN:Arg709Gln	PROT:O95427	PIGN	R	709	Q	R709Q	Pathogenic	1	1	6	238
MUT:PIGN:Arg785His	PROT:O95427	PIGN	R	785	H	R785H	Likely pathogenic	1	1	6	314
MUT:PIGN:Arg95Gln	PROT:O95427	PIGN	R	95	Q	R95Q	Pathogenic/Likely pathogenic	1	1	6	22
MUT:PIGN:Arg95Trp	PROT:O95427	PIGN	R	95	W	R95W	Pathogenic/Likely pathogenic	1	1	6	22
MUT:PIGN:Asp252Val	PROT:O95427	PIGN	D	252	V	D252V	Pathogenic	1	1	6	25
MUT:PIGN:Gln370Pro	PROT:O95427	PIGN	Q	370	P	Q370P	Likely pathogenic	1	1	6	101
MUT:PIGN:Gly554Arg	PROT:O95427	PIGN	G	554	R	G554R	Pathogenic	1	1	6	83
MUT:PIGN:Gly800Glu	PROT:O95427	PIGN	G	800	E	G800E	Pathogenic/Likely pathogenic	1	1	6	329
MUT:PIGN:His218Gln	PROT:O95427	PIGN	H	218	Q	H218Q	Likely pathogenic	1	1	6	5
MUT:PIGN:His229Asp	PROT:O95427	PIGN	H	229	D	H229D	Benign	0	1	6	2
MUT:PIGN:Ile231Val	PROT:O95427	PIGN	I	231	V	I231V	Likely benign	0	1	6	4
MUT:PIGN:Ile470Leu	PROT:O95427	PIGN	I	470	L	I470L	Benign	0	7	6	1
MUT:PIGN:Ile746Met	PROT:O95427	PIGN	I	746	M	I746M	Benign/Likely benign	0	1	6	275
MUT:PIGN:Ile804Met	PROT:O95427	PIGN	I	804	M	I804M	Likely benign	0	2	6	333
MUT:PIGN:Leu311Trp	PROT:O95427	PIGN	L	311	W	L311W	Pathogenic/Likely pathogenic	1	1	6	84
MUT:PIGN:Lys162Glu	PROT:O95427	PIGN	K	162	E	K162E	Benign	0	1	6	0
MUT:PIGN:Met664Ile	PROT:O95427	PIGN	M	664	I	M664I	Likely benign	0	1	6	193
MUT:PIGN:Phe904Leu	PROT:O95427	PIGN	F	904	L	F904L	Benign	0	1	6	433
MUT:PIGN:Ser270Pro	PROT:O95427	PIGN	S	270	P	S270P	Pathogenic	1	1	6	43
MUT:PIGS:Ala344Ser	PROT:Q96S52	PIGS	A	344	S	A344S	Benign	0	1	4	114
MUT:PIGS:Ala490Thr	PROT:Q96S52	PIGS	A	490	T	A490T	Likely benign	0	1	4	23
MUT:PIGS:Ala494Gly	PROT:Q96S52	PIGS	A	494	G	A494G	Benign	0	1	4	27
MUT:PIGS:Arg185Cys	PROT:Q96S52	PIGS	R	185	C	R185C	Benign/Likely benign	0	1	4	90
MUT:PIGS:Arg185His	PROT:Q96S52	PIGS	R	185	H	R185H	Likely benign	0	1	4	90
MUT:PIGS:Arg253His	PROT:Q96S52	PIGS	R	253	H	R253H	Benign	0	1	4	158
MUT:PIGS:Arg545His	PROT:Q96S52	PIGS	R	545	H	R545H	Likely benign	0	1	4	78
MUT:PIGS:Gln58His	PROT:Q96S52	PIGS	Q	58	H	Q58H	Pathogenic	1	1	4	23
MUT:PIGS:Glu72Ala	PROT:Q96S52	PIGS	E	72	A	E72A	Benign	0	1	4	9
MUT:PIGS:Gly263Ser	PROT:Q96S52	PIGS	G	263	S	G263S	Likely benign	0	1	4	168
MUT:PIGS:Gly357Asp	PROT:Q96S52	PIGS	G	357	D	G357D	Pathogenic	1	1	4	101
MUT:PIGS:Leu204Val	PROT:Q96S52	PIGS	L	204	V	L204V	Likely benign	0	1	4	109
MUT:PIGS:Leu34Pro	PROT:Q96S52	PIGS	L	34	P	L34P	Likely pathogenic	1	1	4	47
MUT:PIGS:Met62Ile	PROT:Q96S52	PIGS	M	62	I	M62I	Likely benign	0	1	4	19
MUT:PIGS:Pro329Arg	PROT:Q96S52	PIGS	P	329	R	P329R	Pathogenic	1	1	4	129
MUT:PIGS:Val472Ile	PROT:Q96S52	PIGS	V	472	I	V472I	Benign/Likely benign	0	1	4	5
MUT:PIGS:Val495Leu	PROT:Q96S52	PIGS	V	495	L	V495L	Likely benign	0	1	4	28
MUT:PIGV:Ala341Glu	PROT:Q9NUD9	PIGV	A	341	E	A341E	Pathogenic/Likely pathogenic	1	3	1	58
MUT:PIGV:Ala341Val	PROT:Q9NUD9	PIGV	A	341	V	A341V	Pathogenic	1	1	1	58
MUT:PIGV:Ala418Asp	PROT:Q9NUD9	PIGV	A	418	D	A418D	Likely pathogenic	1	1	1	135
MUT:PIGV:Arg19Cys	PROT:Q9NUD9	PIGV	R	19	C	R19C	Likely pathogenic	1	1	1	264
MUT:PIGV:Arg203Cys	PROT:Q9NUD9	PIGV	R	203	C	R203C	Pathogenic/Likely pathogenic	1	1	1	80
MUT:PIGV:Cys156Tyr	PROT:Q9NUD9	PIGV	C	156	Y	C156Y	Pathogenic/Likely pathogenic	1	1	1	127
MUT:PIGV:Gln256Lys	PROT:Q9NUD9	PIGV	Q	256	K	Q256K	Pathogenic	1	1	1	27
MUT:PIGV:His385Pro	PROT:Q9NUD9	PIGV	H	385	P	H385P	Pathogenic	1	1	1	102
MUT:PIGV:Pro230Ala	PROT:Q9NUD9	PIGV	P	230	A	P230A	Likely benign	0	1	1	53
MUT:PIGV:Pro34Leu	PROT:Q9NUD9	PIGV	P	34	L	P34L	Benign/Likely benign	0	2	1	249
MUT:PIGV:Ser158Asn	PROT:Q9NUD9	PIGV	S	158	N	S158N	Likely benign	0	1	1	125
MUT:PIGV:Tyr470Cys	PROT:Q9NUD9	PIGV	Y	470	C	Y470C	Likely benign	0	1	1	187
MUT:PIK3AP1:Ala73Ser	PROT:Q6ZUJ8	PIK3AP1	A	73	S	A73S	Likely benign	0	2	18	101
MUT:PIK3AP1:Ala83Ser	PROT:Q6ZUJ8	PIK3AP1	A	83	S	A83S	Benign	0	1	18	91
MUT:PIK3AP1:Arg565Trp	PROT:Q6ZUJ8	PIK3AP1	R	565	W	R565W	Likely benign	0	1	18	3
MUT:PIK3AP1:Arg577Thr	PROT:Q6ZUJ8	PIK3AP1	R	577	T	R577T	Likely benign	0	1	18	7
MUT:PIK3AP1:Arg729His	PROT:Q6ZUJ8	PIK3AP1	R	729	H	R729H	Benign	0	2	18	11
MUT:PIK3AP1:Asn498Asp	PROT:Q6ZUJ8	PIK3AP1	N	498	D	N498D	Likely benign	0	1	18	15
MUT:PIK3AP1:Cys256Tyr	PROT:Q6ZUJ8	PIK3AP1	C	256	Y	C256Y	Benign	0	2	18	82
MUT:PIK3AP1:Glu21Lys	PROT:Q6ZUJ8	PIK3AP1	E	21	K	E21K	Benign	0	1	18	153
MUT:PIK3AP1:Glu551Lys	PROT:Q6ZUJ8	PIK3AP1	E	551	K	E551K	Benign	0	1	18	11
MUT:PIK3AP1:Gly579Arg	PROT:Q6ZUJ8	PIK3AP1	G	579	R	G579R	Benign	0	2	18	9
MUT:PIK3AP1:Ile471Asn	PROT:Q6ZUJ8	PIK3AP1	I	471	N	I471N	Likely benign	0	1	18	42
MUT:PIK3AP1:Lys638Arg	PROT:Q6ZUJ8	PIK3AP1	K	638	R	K638R	Benign	0	1	18	2
MUT:PIK3AP1:Pro7Leu	PROT:Q6ZUJ8	PIK3AP1	P	7	L	P7L	Benign	0	1	18	167
MUT:PIK3AP1:Thr171Met	PROT:Q6ZUJ8	PIK3AP1	T	171	M	T171M	Likely benign	0	1	18	3
MUT:PIK3AP1:Val751Phe	PROT:Q6ZUJ8	PIK3AP1	V	751	F	V751F	Likely benign	0	1	18	6
MUT:PIK3C2A:Ala300Val	PROT:O00443	PIK3C2A	A	300	V	A300V	Benign	0	1	34	1
MUT:PIK3C2A:Leu1150Ser	PROT:O00443	PIK3C2A	L	1150	S	L1150S	Benign	0	1	34	8
MUT:PIK3C2A:Phe1232Ser	PROT:O00443	PIK3C2A	F	1232	S	F1232S	Pathogenic	1	1	34	23
MUT:PIK3C2A:Phe133Leu	PROT:O00443	PIK3C2A	F	133	L	F133L	Benign/Likely benign	0	1	34	21
MUT:PIK3C2A:Ser586Asn	PROT:O00443	PIK3C2A	S	586	N	S586N	Benign/Likely benign	0	1	34	44
MUT:PIK3C2A:Thr1415Ala	PROT:O00443	PIK3C2A	T	1415	A	T1415A	Benign	0	6	34	1
MUT:PIK3C2A:Thr204Ile	PROT:O00443	PIK3C2A	T	204	I	T204I	Benign	0	1	34	48
MUT:PIK3R1:Arg649Trp	PROT:P27986	PIK3R1	R	649	W	R649W	Pathogenic/Likely pathogenic	1	2	40	3
MUT:PIK3R1:Asn564Asp	PROT:P27986	PIK3R1	N	564	D	N564D	Pathogenic	1	4	40	3
MUT:PIK3R1:Glu489Lys	PROT:P27986	PIK3R1	E	489	K	E489K	Pathogenic	1	2	40	1
MUT:PIK3R1:Gly376Arg	PROT:P27986	PIK3R1	G	376	R	G376R	Pathogenic	1	2	40	3
MUT:PIK3R1:Ile338Thr	PROT:P27986	PIK3R1	I	338	T	I338T	Likely benign	0	1	40	23
MUT:PIK3R1:Leu158Pro	PROT:P27986	PIK3R1	L	158	P	L158P	Likely benign	0	1	40	4
MUT:PIK3R1:Leu573Pro	PROT:P27986	PIK3R1	L	573	P	L573P	Pathogenic	1	1	40	6
MUT:PIK3R1:Lys567Glu	PROT:P27986	PIK3R1	K	567	E	K567E	Likely pathogenic	1	3	40	0
MUT:PIK3R1:Phe487Ser	PROT:P27986	PIK3R1	F	487	S	F487S	Likely pathogenic	1	1	40	3
MUT:PIK3R1:Thr369Ile	PROT:P27986	PIK3R1	T	369	I	T369I	Likely pathogenic	1	1	40	1
MUT:PIP5K1B:Glu116Lys	PROT:O14986	PIP5K1B	E	116	K	E116K	Pathogenic	1	1	7	11
MUT:PIP5K1C:Ala633Thr	PROT:O60331	PIP5K1C	A	633	T	A633T	Likely benign	0	1	14	6
MUT:PIP5K1C:Asp253Asn	PROT:O60331	PIP5K1C	D	253	N	D253N	Pathogenic	1	1	14	2
MUT:PIP5K1C:Gly603Ser	PROT:O60331	PIP5K1C	G	603	S	G603S	Benign	0	1	14	36
MUT:PIP5K1C:Met281Ile	PROT:O60331	PIP5K1C	M	281	I	M281I	Likely benign	0	1	14	26
MUT:PIP5K1C:Thr41Ala	PROT:O60331	PIP5K1C	T	41	A	T41A	Likely benign	0	1	14	32
MUT:PIP5K1C:Tyr221Cys	PROT:O60331	PIP5K1C	Y	221	C	Y221C	Pathogenic	1	2	14	21
MUT:PITPNM3:Ala280Thr	PROT:Q9BZ71	PITPNM3	A	280	T	A280T	Benign	0	1	11	63
MUT:PITPNM3:Ala80Thr	PROT:Q9BZ71	PITPNM3	A	80	T	A80T	Benign	0	1	11	15
MUT:PITPNM3:Arg493Trp	PROT:Q9BZ71	PITPNM3	R	493	W	R493W	Benign	0	1	11	11
MUT:PITPNM3:Arg703Trp	PROT:Q9BZ71	PITPNM3	R	703	W	R703W	Benign/Likely benign	0	1	11	91
MUT:PITPNM3:Glu489Ala	PROT:Q9BZ71	PITPNM3	E	489	A	E489A	Likely benign	0	1	11	15
MUT:PITPNM3:Pro17Ser	PROT:Q9BZ71	PITPNM3	P	17	S	P17S	Benign	0	1	11	13
MUT:PITPNM3:Val181Ile	PROT:Q9BZ71	PITPNM3	V	181	I	V181I	Benign/Likely benign	0	2	11	83
MUT:PITPNM3:Val62Met	PROT:Q9BZ71	PITPNM3	V	62	M	V62M	Likely benign	0	1	11	31
MUT:PITRM1:Ala554Asp	PROT:Q5JRX3	PITRM1	A	554	D	A554D	Likely benign	0	1	9	24
MUT:PITRM1:Arg183Gln	PROT:Q5JRX3	PITRM1	R	183	Q	R183Q	Pathogenic	1	1	9	75
MUT:PITRM1:Arg32Gln	PROT:Q5JRX3	PITRM1	R	32	Q	R32Q	Likely benign	0	1	9	226
MUT:PITRM1:Arg805Gln	PROT:Q5JRX3	PITRM1	R	805	Q	R805Q	Benign	0	5	9	46
MUT:PITRM1:Gln8Arg	PROT:Q5JRX3	PITRM1	Q	8	R	Q8R	Benign	0	1	9	250
MUT:PITRM1:Gly1017Ser	PROT:Q5JRX3	PITRM1	G	1017	S	G1017S	Benign	0	1	9	6
MUT:PITRM1:Gly9Val	PROT:Q5JRX3	PITRM1	G	9	V	G9V	Benign	0	1	9	249
MUT:PITRM1:Ile952Met	PROT:Q5JRX3	PITRM1	I	952	M	I952M	Benign	0	1	9	59
MUT:PITRM1:Leu145Val	PROT:Q5JRX3	PITRM1	L	145	V	L145V	Benign	0	1	9	113
MUT:PITRM1:Leu883Phe	PROT:Q5JRX3	PITRM1	L	883	F	L883F	Benign/Likely benign	0	1	9	124
MUT:PITRM1:Lys807Arg	PROT:Q5JRX3	PITRM1	K	807	R	K807R	Likely benign	0	1	9	48
MUT:PITRM1:Phe169Ser	PROT:Q5JRX3	PITRM1	F	169	S	F169S	Benign	0	1	9	89
MUT:PITRM1:Phe618Leu	PROT:Q5JRX3	PITRM1	F	618	L	F618L	Benign	0	1	9	88
MUT:PITRM1:Ser355Cys	PROT:Q5JRX3	PITRM1	S	355	C	S355C	Benign	0	1	9	65
MUT:PITRM1:Thr501Ile	PROT:Q5JRX3	PITRM1	T	501	I	T501I	Likely benign	0	1	9	29
MUT:PITRM1:Thr876Met	PROT:Q5JRX3	PITRM1	T	876	M	T876M	Benign	0	1	9	117
MUT:PITRM1:Thr931Met	PROT:Q5JRX3	PITRM1	T	931	M	T931M	Pathogenic/Likely pathogenic	1	1	9	80
MUT:PITRM1:Val621Ile	PROT:Q5JRX3	PITRM1	V	621	I	V621I	Benign	0	1	9	91
MUT:PITRM1:Val963Ile	PROT:Q5JRX3	PITRM1	V	963	I	V963I	Benign	0	1	9	48
MUT:PITX3:Ser13Asn	PROT:O75364	PITX3	S	13	N	S13N	Likely pathogenic	1	1	1	39
MUT:PIWIL1:Arg419Cys	PROT:Q96J94	PIWIL1	R	419	C	R419C	Likely benign	0	1	2	81
MUT:PIWIL1:Arg527Lys	PROT:Q96J94	PIWIL1	R	527	K	R527K	Benign	0	1	2	76
MUT:PIWIL1:Tyr32Asp	PROT:Q96J94	PIWIL1	Y	32	D	Y32D	Likely benign	0	2	2	306
MUT:PJA1:Val84Ala	PROT:Q8NG27	PJA1	V	84	A	V84A	Benign/Likely benign	0	1	14	6
MUT:PJVK:Arg183Trp	PROT:Q0ZLH3	PJVK	R	183	W	R183W	Pathogenic/Likely pathogenic	1	2	1	48
MUT:PJVK:Asp29Glu	PROT:Q0ZLH3	PJVK	D	29	E	D29E	Likely benign	0	1	1	106
MUT:PJVK:Cys343Ser	PROT:Q0ZLH3	PJVK	C	343	S	C343S	Pathogenic	1	1	1	208
MUT:PJVK:Gly292Arg	PROT:Q0ZLH3	PJVK	G	292	R	G292R	Benign/Likely benign	0	1	1	157
MUT:PJVK:Ile118Val	PROT:Q0ZLH3	PJVK	I	118	V	I118V	Likely benign	0	1	1	17
MUT:PJVK:Leu224Arg	PROT:Q0ZLH3	PJVK	L	224	R	L224R	Pathogenic	1	1	1	89
MUT:PJVK:Thr54Ile	PROT:Q0ZLH3	PJVK	T	54	I	T54I	Pathogenic	1	1	1	81
MUT:PKD1:Ala1110Thr	PROT:P98161	PKD1	A	1110	T	A1110T	Likely benign	0	1	21	252
MUT:PKD1:Ala1200Gly	PROT:P98161	PKD1	A	1200	G	A1200G	Likely benign	0	1	21	342
MUT:PKD1:Ala1227Ser	PROT:P98161	PKD1	A	1227	S	A1227S	Benign/Likely benign	0	3	21	369
MUT:PKD1:Ala1311Ser	PROT:P98161	PKD1	A	1311	S	A1311S	Likely benign	0	2	21	453
MUT:PKD1:Ala1311Thr	PROT:P98161	PKD1	A	1311	T	A1311T	Benign/Likely benign	0	2	21	453
MUT:PKD1:Ala134Val	PROT:P98161	PKD1	A	134	V	A134V	Likely benign	0	1	21	709
MUT:PKD1:Ala140Val	PROT:P98161	PKD1	A	140	V	A140V	Likely benign	0	1	21	703
MUT:PKD1:Ala1422Thr	PROT:P98161	PKD1	A	1422	T	A1422T	Benign/Likely benign	0	4	21	564
MUT:PKD1:Ala1447Val	PROT:P98161	PKD1	A	1447	V	A1447V	Likely benign	0	1	21	589
MUT:PKD1:Ala1516Thr	PROT:P98161	PKD1	A	1516	T	A1516T	Benign/Likely benign	0	2	21	658
MUT:PKD1:Ala153Asp	PROT:P98161	PKD1	A	153	D	A153D	Likely pathogenic	1	1	21	690
MUT:PKD1:Ala1819Ser	PROT:P98161	PKD1	A	1819	S	A1819S	Benign/Likely benign	0	2	21	505
MUT:PKD1:Ala1871Thr	PROT:P98161	PKD1	A	1871	T	A1871T	Benign/Likely benign	0	3	21	453
MUT:PKD1:Ala194Thr	PROT:P98161	PKD1	A	194	T	A194T	Benign/Likely benign	0	3	21	649
MUT:PKD1:Ala1961Val	PROT:P98161	PKD1	A	1961	V	A1961V	Benign/Likely benign	0	1	21	363
MUT:PKD1:Ala2003Thr	PROT:P98161	PKD1	A	2003	T	A2003T	Likely benign	0	3	21	321
MUT:PKD1:Ala2193Thr	PROT:P98161	PKD1	A	2193	T	A2193T	Likely benign	0	1	21	131
MUT:PKD1:Ala222Pro	PROT:P98161	PKD1	A	222	P	A222P	Likely pathogenic	1	2	21	621
MUT:PKD1:Ala2312Val	PROT:P98161	PKD1	A	2312	V	A2312V	Likely benign	0	2	21	12
MUT:PKD1:Ala2581Val	PROT:P98161	PKD1	A	2581	V	A2581V	Likely benign	0	1	21	71
MUT:PKD1:Ala2629Val	PROT:P98161	PKD1	A	2629	V	A2629V	Likely benign	0	1	21	23
MUT:PKD1:Ala2700Thr	PROT:P98161	PKD1	A	2700	T	A2700T	Pathogenic	1	1	21	48
MUT:PKD1:Ala2815Val	PROT:P98161	PKD1	A	2815	V	A2815V	Benign/Likely benign	0	1	21	2
MUT:PKD1:Ala2852Pro	PROT:P98161	PKD1	A	2852	P	A2852P	Likely pathogenic	1	1	21	39
MUT:PKD1:Ala2988Val	PROT:P98161	PKD1	A	2988	V	A2988V	Likely benign	0	2	21	155
MUT:PKD1:Ala341Thr	PROT:P98161	PKD1	A	341	T	A341T	Benign	0	1	21	502
MUT:PKD1:Ala3467Val	PROT:P98161	PKD1	A	3467	V	A3467V	Likely benign	0	2	21	324
MUT:PKD1:Ala3512Val	PROT:P98161	PKD1	A	3512	V	A3512V	Benign/Likely benign	0	3	21	369
MUT:PKD1:Ala3552Ser	PROT:P98161	PKD1	A	3552	S	A3552S	Benign/Likely benign	0	2	21	409
MUT:PKD1:Ala3805Val	PROT:P98161	PKD1	A	3805	V	A3805V	Likely benign	0	1	21	361
MUT:PKD1:Ala3875Val	PROT:P98161	PKD1	A	3875	V	A3875V	Likely benign	0	1	21	291
MUT:PKD1:Ala3919Val	PROT:P98161	PKD1	A	3919	V	A3919V	Likely benign	0	1	21	247
MUT:PKD1:Ala3943Val	PROT:P98161	PKD1	A	3943	V	A3943V	Likely benign	0	1	21	223
MUT:PKD1:Ala401Val	PROT:P98161	PKD1	A	401	V	A401V	Likely benign	0	2	21	442
MUT:PKD1:Ala4059Val	PROT:P98161	PKD1	A	4059	V	A4059V	Benign/Likely benign	0	3	21	107
MUT:PKD1:Ala4294Pro	PROT:P98161	PKD1	A	4294	P	A4294P	Likely benign	0	1	21	6
MUT:PKD1:Ala432Glu	PROT:P98161	PKD1	A	432	E	A432E	Likely pathogenic	1	1	21	411
MUT:PKD1:Ala548Val	PROT:P98161	PKD1	A	548	V	A548V	Likely benign	0	1	21	295
MUT:PKD1:Ala561Thr	PROT:P98161	PKD1	A	561	T	A561T	Likely benign	0	1	21	282
MUT:PKD1:Ala637Val	PROT:P98161	PKD1	A	637	V	A637V	Likely benign	0	1	21	206
MUT:PKD1:Ala696Thr	PROT:P98161	PKD1	A	696	T	A696T	Likely benign	0	1	21	147
MUT:PKD1:Ala725Thr	PROT:P98161	PKD1	A	725	T	A725T	Likely benign	0	1	21	118
MUT:PKD1:Ala747Thr	PROT:P98161	PKD1	A	747	T	A747T	Likely benign	0	1	21	96
MUT:PKD1:Ala756Thr	PROT:P98161	PKD1	A	756	T	A756T	Benign	0	1	21	87
MUT:PKD1:Ala81Val	PROT:P98161	PKD1	A	81	V	A81V	Likely benign	0	1	21	762
MUT:PKD1:Ala898Val	PROT:P98161	PKD1	A	898	V	A898V	Likely benign	0	1	21	40
MUT:PKD1:Ala920Gly	PROT:P98161	PKD1	A	920	G	A920G	Likely benign	0	1	21	62
MUT:PKD1:Arg1142Trp	PROT:P98161	PKD1	R	1142	W	R1142W	Benign/Likely benign	0	2	21	284
MUT:PKD1:Arg1285Trp	PROT:P98161	PKD1	R	1285	W	R1285W	Benign/Likely benign	0	2	21	427
MUT:PKD1:Arg1312Gln	PROT:P98161	PKD1	R	1312	Q	R1312Q	Benign/Likely benign	0	3	21	454
MUT:PKD1:Arg1340Trp	PROT:P98161	PKD1	R	1340	W	R1340W	Benign/Likely benign	0	3	21	482
MUT:PKD1:Arg1494His	PROT:P98161	PKD1	R	1494	H	R1494H	Likely benign	0	1	21	636
MUT:PKD1:Arg1547Cys	PROT:P98161	PKD1	R	1547	C	R1547C	Likely benign	0	3	21	689
MUT:PKD1:Arg1642His	PROT:P98161	PKD1	R	1642	H	R1642H	Likely benign	0	1	21	682
MUT:PKD1:Arg1848Cys	PROT:P98161	PKD1	R	1848	C	R1848C	Likely benign	0	2	21	476
MUT:PKD1:Arg2051His	PROT:P98161	PKD1	R	2051	H	R2051H	Likely benign	0	1	21	273
MUT:PKD1:Arg2163Gln	PROT:P98161	PKD1	R	2163	Q	R2163Q	Benign/Likely benign	0	3	21	161
MUT:PKD1:Arg2166Cys	PROT:P98161	PKD1	R	2166	C	R2166C	Benign/Likely benign	0	1	21	158
MUT:PKD1:Arg2166His	PROT:P98161	PKD1	R	2166	H	R2166H	Likely benign	0	1	21	158
MUT:PKD1:Arg2191His	PROT:P98161	PKD1	R	2191	H	R2191H	Likely benign	0	1	21	133
MUT:PKD1:Arg2200Cys	PROT:P98161	PKD1	R	2200	C	R2200C	Benign/Likely benign	0	4	21	124
MUT:PKD1:Arg2408His	PROT:P98161	PKD1	R	2408	H	R2408H	Likely benign	0	1	21	3
MUT:PKD1:Arg2453His	PROT:P98161	PKD1	R	2453	H	R2453H	Likely benign	0	1	21	27
MUT:PKD1:Arg2516Cys	PROT:P98161	PKD1	R	2516	C	R2516C	Pathogenic/Likely pathogenic	1	1	21	90
MUT:PKD1:Arg2516Pro	PROT:P98161	PKD1	R	2516	P	R2516P	Likely pathogenic	1	1	21	90
MUT:PKD1:Arg2643Cys	PROT:P98161	PKD1	R	2643	C	R2643C	Pathogenic/Likely pathogenic	1	3	21	9
MUT:PKD1:Arg2681His	PROT:P98161	PKD1	R	2681	H	R2681H	Likely benign	0	2	21	29
MUT:PKD1:Arg2767Cys	PROT:P98161	PKD1	R	2767	C	R2767C	Pathogenic/Likely pathogenic	1	2	21	46
MUT:PKD1:Arg2767Pro	PROT:P98161	PKD1	R	2767	P	R2767P	Likely pathogenic	1	1	21	46
MUT:PKD1:Arg2865Gln	PROT:P98161	PKD1	R	2865	Q	R2865Q	Likely benign	0	2	21	52
MUT:PKD1:Arg2951Gln	PROT:P98161	PKD1	R	2951	Q	R2951Q	Likely benign	0	1	21	138
MUT:PKD1:Arg3039Ser	PROT:P98161	PKD1	R	3039	S	R3039S	Likely benign	0	1	21	104
MUT:PKD1:Arg304Cys	PROT:P98161	PKD1	R	304	C	R304C	Likely benign	0	2	21	539
MUT:PKD1:Arg304His	PROT:P98161	PKD1	R	304	H	R304H	Likely benign	0	2	21	539
MUT:PKD1:Arg3152Gly	PROT:P98161	PKD1	R	3152	G	R3152G	Likely pathogenic	1	1	21	9
MUT:PKD1:Arg3269Gln	PROT:P98161	PKD1	R	3269	Q	R3269Q	Likely pathogenic	1	1	21	126
MUT:PKD1:Arg3277Cys	PROT:P98161	PKD1	R	3277	C	R3277C	Pathogenic/Likely pathogenic	1	4	21	134
MUT:PKD1:Arg3435Gln	PROT:P98161	PKD1	R	3435	Q	R3435Q	Likely benign	0	3	21	292
MUT:PKD1:Arg3439Gln	PROT:P98161	PKD1	R	3439	Q	R3439Q	Likely benign	0	1	21	296
MUT:PKD1:Arg3546Gln	PROT:P98161	PKD1	R	3546	Q	R3546Q	Likely benign	0	1	21	403
MUT:PKD1:Arg3719Gln	PROT:P98161	PKD1	R	3719	Q	R3719Q	Pathogenic	1	2	21	447
MUT:PKD1:Arg3750Gly	PROT:P98161	PKD1	R	3750	G	R3750G	Pathogenic	1	1	21	416
MUT:PKD1:Arg3750Pro	PROT:P98161	PKD1	R	3750	P	R3750P	Likely pathogenic	1	1	21	416
MUT:PKD1:Arg3750Trp	PROT:P98161	PKD1	R	3750	W	R3750W	Likely pathogenic	1	1	21	416
MUT:PKD1:Arg3753Gly	PROT:P98161	PKD1	R	3753	G	R3753G	Likely pathogenic	1	2	21	413
MUT:PKD1:Arg3753Trp	PROT:P98161	PKD1	R	3753	W	R3753W	Pathogenic	1	3	21	413
MUT:PKD1:Arg3886Pro	PROT:P98161	PKD1	R	3886	P	R3886P	Likely pathogenic	1	1	21	280
MUT:PKD1:Arg4007His	PROT:P98161	PKD1	R	4007	H	R4007H	Likely pathogenic	1	1	21	159
MUT:PKD1:Arg400Gln	PROT:P98161	PKD1	R	400	Q	R400Q	Likely benign	0	1	21	443
MUT:PKD1:Arg4136Thr	PROT:P98161	PKD1	R	4136	T	R4136T	Likely pathogenic	1	1	21	30
MUT:PKD1:Arg4228Pro	PROT:P98161	PKD1	R	4228	P	R4228P	Likely pathogenic	1	2	21	9
MUT:PKD1:Arg4260His	PROT:P98161	PKD1	R	4260	H	R4260H	Likely benign	0	1	21	8
MUT:PKD1:Arg4267Gln	PROT:P98161	PKD1	R	4267	Q	R4267Q	Likely benign	0	1	21	15
MUT:PKD1:Arg4276Trp	PROT:P98161	PKD1	R	4276	W	R4276W	Benign/Likely benign	0	2	21	12
MUT:PKD1:Arg510Pro	PROT:P98161	PKD1	R	510	P	R510P	Likely pathogenic	1	2	21	333
MUT:PKD1:Arg739Gln	PROT:P98161	PKD1	R	739	Q	R739Q	Benign	0	1	21	104
MUT:PKD1:Arg739Trp	PROT:P98161	PKD1	R	739	W	R739W	Pathogenic	1	1	21	104
MUT:PKD1:Arg791Gln	PROT:P98161	PKD1	R	791	Q	R791Q	Likely benign	0	1	21	52
MUT:PKD1:Arg80Trp	PROT:P98161	PKD1	R	80	W	R80W	Benign/Likely benign	0	2	21	763
MUT:PKD1:Asn1034Ser	PROT:P98161	PKD1	N	1034	S	N1034S	Benign/Likely benign	0	4	21	176
MUT:PKD1:Asn1072Asp	PROT:P98161	PKD1	N	1072	D	N1072D	Likely benign	0	1	21	214
MUT:PKD1:Asn1072Lys	PROT:P98161	PKD1	N	1072	K	N1072K	Likely benign	0	1	21	214
MUT:PKD1:Asn1090Ser	PROT:P98161	PKD1	N	1090	S	N1090S	Likely benign	0	1	21	232
MUT:PKD1:Asn1791Ser	PROT:P98161	PKD1	N	1791	S	N1791S	Likely benign	0	1	21	533
MUT:PKD1:Asn1870His	PROT:P98161	PKD1	N	1870	H	N1870H	Likely pathogenic	1	1	21	454
MUT:PKD1:Asn1870Ser	PROT:P98161	PKD1	N	1870	S	N1870S	Pathogenic/Likely pathogenic	1	2	21	454
MUT:PKD1:Asn3188Asp	PROT:P98161	PKD1	N	3188	D	N3188D	Likely pathogenic	1	2	21	45
MUT:PKD1:Asn3188Tyr	PROT:P98161	PKD1	N	3188	Y	N3188Y	Likely pathogenic	1	1	21	45
MUT:PKD1:Asp1797Gly	PROT:P98161	PKD1	D	1797	G	D1797G	Likely benign	0	1	21	527
MUT:PKD1:Asp2098Asn	PROT:P98161	PKD1	D	2098	N	D2098N	Likely pathogenic	1	1	21	226
MUT:PKD1:Asp2604Asn	PROT:P98161	PKD1	D	2604	N	D2604N	Benign/Likely benign	0	2	21	48
MUT:PKD1:Asp2789Gly	PROT:P98161	PKD1	D	2789	G	D2789G	Likely benign	0	2	21	24
MUT:PKD1:Asp3187Tyr	PROT:P98161	PKD1	D	3187	Y	D3187Y	Likely pathogenic	1	1	21	44
MUT:PKD1:Asp3204Gly	PROT:P98161	PKD1	D	3204	G	D3204G	Likely pathogenic	1	1	21	61
MUT:PKD1:Asp3844His	PROT:P98161	PKD1	D	3844	H	D3844H	Likely pathogenic	1	1	21	322
MUT:PKD1:Asp962His	PROT:P98161	PKD1	D	962	H	D962H	Likely benign	0	1	21	104
MUT:PKD1:Asp97Gly	PROT:P98161	PKD1	D	97	G	D97G	Likely pathogenic	1	1	21	746
MUT:PKD1:Cys210Arg	PROT:P98161	PKD1	C	210	R	C210R	Likely pathogenic	1	1	21	633
MUT:PKD1:Cys210Tyr	PROT:P98161	PKD1	C	210	Y	C210Y	Likely pathogenic	1	1	21	633
MUT:PKD1:Cys214Ser	PROT:P98161	PKD1	C	214	S	C214S	Likely pathogenic	1	1	21	629
MUT:PKD1:Cys230Phe	PROT:P98161	PKD1	C	230	F	C230F	Likely pathogenic	1	1	21	613
MUT:PKD1:Cys232Arg	PROT:P98161	PKD1	C	232	R	C232R	Likely pathogenic	1	1	21	611
MUT:PKD1:Cys232Ser	PROT:P98161	PKD1	C	232	S	C232S	Pathogenic	1	1	21	611
MUT:PKD1:Cys232Trp	PROT:P98161	PKD1	C	232	W	C232W	Likely pathogenic	1	1	21	611
MUT:PKD1:Cys2370Arg	PROT:P98161	PKD1	C	2370	R	C2370R	Pathogenic/Likely pathogenic	1	1	21	33
MUT:PKD1:Cys2370Phe	PROT:P98161	PKD1	C	2370	F	C2370F	Pathogenic	1	1	21	33
MUT:PKD1:Cys2370Ser	PROT:P98161	PKD1	C	2370	S	C2370S	Likely pathogenic	1	1	21	33
MUT:PKD1:Cys2370Tyr	PROT:P98161	PKD1	C	2370	Y	C2370Y	Pathogenic/Likely pathogenic	1	1	21	33
MUT:PKD1:Cys2373Tyr	PROT:P98161	PKD1	C	2373	Y	C2373Y	Likely pathogenic	1	2	21	36
MUT:PKD1:Cys2495Arg	PROT:P98161	PKD1	C	2495	R	C2495R	Pathogenic/Likely pathogenic	1	1	21	69
MUT:PKD1:Cys2495Tyr	PROT:P98161	PKD1	C	2495	Y	C2495Y	Pathogenic/Likely pathogenic	1	1	21	69
MUT:PKD1:Cys3112Tyr	PROT:P98161	PKD1	C	3112	Y	C3112Y	Likely pathogenic	1	1	21	31
MUT:PKD1:Cys3284Arg	PROT:P98161	PKD1	C	3284	R	C3284R	Likely pathogenic	1	1	21	141
MUT:PKD1:Cys436Phe	PROT:P98161	PKD1	C	436	F	C436F	Likely pathogenic	1	1	21	407
MUT:PKD1:Cys508Ser	PROT:P98161	PKD1	C	508	S	C508S	Likely pathogenic	1	1	21	335
MUT:PKD1:Cys530Tyr	PROT:P98161	PKD1	C	530	Y	C530Y	Pathogenic	1	1	21	313
MUT:PKD1:Gln1828Arg	PROT:P98161	PKD1	Q	1828	R	Q1828R	Likely benign	0	1	21	496
MUT:PKD1:Gln2182Arg	PROT:P98161	PKD1	Q	2182	R	Q2182R	Benign/Likely benign	0	2	21	142
MUT:PKD1:Gln2969Glu	PROT:P98161	PKD1	Q	2969	E	Q2969E	Likely benign	0	1	21	156
MUT:PKD1:Gln3016Arg	PROT:P98161	PKD1	Q	3016	R	Q3016R	Likely pathogenic	1	1	21	127
MUT:PKD1:Gln3751His	PROT:P98161	PKD1	Q	3751	H	Q3751H	Likely pathogenic	1	1	21	415
MUT:PKD1:Gln4238His	PROT:P98161	PKD1	Q	4238	H	Q4238H	Likely benign	0	1	21	1
MUT:PKD1:Gln435Arg	PROT:P98161	PKD1	Q	435	R	Q435R	Likely benign	0	1	21	408
MUT:PKD1:Gln848Pro	PROT:P98161	PKD1	Q	848	P	Q848P	Likely pathogenic	1	1	21	5
MUT:PKD1:Glu128Ala	PROT:P98161	PKD1	E	128	A	E128A	Likely benign	0	1	21	715
MUT:PKD1:Glu1379Val	PROT:P98161	PKD1	E	1379	V	E1379V	Likely benign	0	1	21	521
MUT:PKD1:Glu1811Lys	PROT:P98161	PKD1	E	1811	K	E1811K	Pathogenic	1	2	21	513
MUT:PKD1:Glu2111Lys	PROT:P98161	PKD1	E	2111	K	E2111K	Benign/Likely benign	0	2	21	213
MUT:PKD1:Glu2280Lys	PROT:P98161	PKD1	E	2280	K	E2280K	Likely benign	0	1	21	44
MUT:PKD1:Glu2456Gly	PROT:P98161	PKD1	E	2456	G	E2456G	Likely benign	0	1	21	30
MUT:PKD1:Glu2548Gln	PROT:P98161	PKD1	E	2548	Q	E2548Q	Benign/Likely benign	0	2	21	104
MUT:PKD1:Glu2771Lys	PROT:P98161	PKD1	E	2771	K	E2771K	Pathogenic/Likely pathogenic	1	4	21	42
MUT:PKD1:Glu2779Lys	PROT:P98161	PKD1	E	2779	K	E2779K	Benign/Likely benign	0	1	21	34
MUT:PKD1:Glu2966Asp	PROT:P98161	PKD1	E	2966	D	E2966D	Benign/Likely benign	0	3	21	153
MUT:PKD1:Glu3068Asp	PROT:P98161	PKD1	E	3068	D	E3068D	Benign	0	1	21	75
MUT:PKD1:Glu313Lys	PROT:P98161	PKD1	E	313	K	E313K	Likely benign	0	1	21	530
MUT:PKD1:Glu3604Lys	PROT:P98161	PKD1	E	3604	K	E3604K	Likely pathogenic	1	1	21	461
MUT:PKD1:Glu3872Val	PROT:P98161	PKD1	E	3872	V	E3872V	Likely pathogenic	1	1	21	294
MUT:PKD1:Glu542Lys	PROT:P98161	PKD1	E	542	K	E542K	Likely benign	0	1	21	301
MUT:PKD1:Gly1281Ser	PROT:P98161	PKD1	G	1281	S	G1281S	Likely benign	0	1	21	423
MUT:PKD1:Gly1319Arg	PROT:P98161	PKD1	G	1319	R	G1319R	Pathogenic/Likely pathogenic	1	3	21	461
MUT:PKD1:Gly163Val	PROT:P98161	PKD1	G	163	V	G163V	Likely pathogenic	1	1	21	680
MUT:PKD1:Gly1719Arg	PROT:P98161	PKD1	G	1719	R	G1719R	Pathogenic	1	1	21	605
MUT:PKD1:Gly1832Cys	PROT:P98161	PKD1	G	1832	C	G1832C	Likely pathogenic	1	1	21	492
MUT:PKD1:Gly1832Val	PROT:P98161	PKD1	G	1832	V	G1832V	Likely pathogenic	1	2	21	492
MUT:PKD1:Gly2047Ser	PROT:P98161	PKD1	G	2047	S	G2047S	Likely pathogenic	1	1	21	277
MUT:PKD1:Gly2278Arg	PROT:P98161	PKD1	G	2278	R	G2278R	Likely pathogenic	1	1	21	46
MUT:PKD1:Gly2391Asp	PROT:P98161	PKD1	G	2391	D	G2391D	Pathogenic	1	1	21	20
MUT:PKD1:Gly250Ser	PROT:P98161	PKD1	G	250	S	G250S	Likely benign	0	1	21	593
MUT:PKD1:Gly2814Arg	PROT:P98161	PKD1	G	2814	R	G2814R	Benign/Likely benign	0	7	21	1
MUT:PKD1:Gly3029Val	PROT:P98161	PKD1	G	3029	V	G3029V	Likely pathogenic	1	1	21	114
MUT:PKD1:Gly3144Glu	PROT:P98161	PKD1	G	3144	E	G3144E	Likely pathogenic	1	1	21	1
MUT:PKD1:Gly3190Arg	PROT:P98161	PKD1	G	3190	R	G3190R	Likely pathogenic	1	1	21	47
MUT:PKD1:Gly3190Trp	PROT:P98161	PKD1	G	3190	W	G3190W	Likely pathogenic	1	1	21	47
MUT:PKD1:Gly3361Arg	PROT:P98161	PKD1	G	3361	R	G3361R	Likely benign	0	1	21	218
MUT:PKD1:Gly3540Arg	PROT:P98161	PKD1	G	3540	R	G3540R	Likely pathogenic	1	1	21	397
MUT:PKD1:Gly3560Arg	PROT:P98161	PKD1	G	3560	R	G3560R	Benign/Likely benign	0	4	21	417
MUT:PKD1:Gly3602Arg	PROT:P98161	PKD1	G	3602	R	G3602R	Likely pathogenic	1	1	21	459
MUT:PKD1:Gly3818Cys	PROT:P98161	PKD1	G	3818	C	G3818C	Likely pathogenic	1	2	21	348
MUT:PKD1:Gly3818Val	PROT:P98161	PKD1	G	3818	V	G3818V	Likely pathogenic	1	1	21	348
MUT:PKD1:Gly4257Arg	PROT:P98161	PKD1	G	4257	R	G4257R	Benign/Likely benign	0	2	21	5
MUT:PKD1:Gly515Trp	PROT:P98161	PKD1	G	515	W	G515W	Likely pathogenic	1	1	21	328
MUT:PKD1:Gly622Ser	PROT:P98161	PKD1	G	622	S	G622S	Likely benign	0	1	21	221
MUT:PKD1:His1093Tyr	PROT:P98161	PKD1	H	1093	Y	H1093Y	Benign/Likely benign	0	2	21	235
MUT:PKD1:His2297Pro	PROT:P98161	PKD1	H	2297	P	H2297P	Likely pathogenic	1	1	21	27
MUT:PKD1:His2638Arg	PROT:P98161	PKD1	H	2638	R	H2638R	Benign/Likely benign	0	3	21	14
MUT:PKD1:His2921Arg	PROT:P98161	PKD1	H	2921	R	H2921R	Likely pathogenic	1	1	21	108
MUT:PKD1:His3137Gln	PROT:P98161	PKD1	H	3137	Q	H3137Q	Likely pathogenic	1	1	21	6
MUT:PKD1:His3186Asp	PROT:P98161	PKD1	H	3186	D	H3186D	Likely pathogenic	1	1	21	43
MUT:PKD1:His3261Arg	PROT:P98161	PKD1	H	3261	R	H3261R	Pathogenic	1	1	21	118
MUT:PKD1:His3840Pro	PROT:P98161	PKD1	H	3840	P	H3840P	Likely pathogenic	1	2	21	326
MUT:PKD1:His3913Tyr	PROT:P98161	PKD1	H	3913	Y	H3913Y	Likely benign	0	1	21	253
MUT:PKD1:His728Arg	PROT:P98161	PKD1	H	728	R	H728R	Likely benign	0	3	21	115
MUT:PKD1:His753Leu	PROT:P98161	PKD1	H	753	L	H753L	Likely benign	0	1	21	90
MUT:PKD1:Ile1451Val	PROT:P98161	PKD1	I	1451	V	I1451V	Likely benign	0	1	21	593
MUT:PKD1:Ile3122Ser	PROT:P98161	PKD1	I	3122	S	I3122S	Likely pathogenic	1	1	21	21
MUT:PKD1:Ile3717Phe	PROT:P98161	PKD1	I	3717	F	I3717F	Likely pathogenic	1	1	21	449
MUT:PKD1:Ile4045Val	PROT:P98161	PKD1	I	4045	V	I4045V	Benign/Likely benign	0	3	21	121
MUT:PKD1:Ile4105Leu	PROT:P98161	PKD1	I	4105	L	I4105L	Likely benign	0	1	21	61
MUT:PKD1:Ile932Thr	PROT:P98161	PKD1	I	932	T	I932T	Likely pathogenic	1	1	21	74
MUT:PKD1:Leu1086Val	PROT:P98161	PKD1	L	1086	V	L1086V	Likely benign	0	1	21	228
MUT:PKD1:Leu1106Val	PROT:P98161	PKD1	L	1106	V	L1106V	Benign/Likely benign	0	2	21	248
MUT:PKD1:Leu1290Val	PROT:P98161	PKD1	L	1290	V	L1290V	Likely benign	0	1	21	432
MUT:PKD1:Leu2055Val	PROT:P98161	PKD1	L	2055	V	L2055V	Likely benign	0	1	21	269
MUT:PKD1:Leu2066Pro	PROT:P98161	PKD1	L	2066	P	L2066P	Likely pathogenic	1	1	21	258
MUT:PKD1:Leu2431Gln	PROT:P98161	PKD1	L	2431	Q	L2431Q	Pathogenic/Likely pathogenic	1	2	21	5
MUT:PKD1:Leu2433Arg	PROT:P98161	PKD1	L	2433	R	L2433R	Likely pathogenic	1	1	21	7
MUT:PKD1:Leu2438Pro	PROT:P98161	PKD1	L	2438	P	L2438P	Likely pathogenic	1	1	21	12
MUT:PKD1:Leu247Phe	PROT:P98161	PKD1	L	247	F	L247F	Likely benign	0	1	21	596
MUT:PKD1:Leu2512Arg	PROT:P98161	PKD1	L	2512	R	L2512R	Likely pathogenic	1	1	21	86
MUT:PKD1:Leu2816Gln	PROT:P98161	PKD1	L	2816	Q	L2816Q	Likely pathogenic	1	1	21	3
MUT:PKD1:Leu2816Pro	PROT:P98161	PKD1	L	2816	P	L2816P	Pathogenic/Likely pathogenic	1	1	21	3
MUT:PKD1:Leu2828Pro	PROT:P98161	PKD1	L	2828	P	L2828P	Likely pathogenic	1	1	21	15
MUT:PKD1:Leu2866Pro	PROT:P98161	PKD1	L	2866	P	L2866P	Likely pathogenic	1	1	21	53
MUT:PKD1:Leu3511Val	PROT:P98161	PKD1	L	3511	V	L3511V	Benign/Likely benign	0	1	21	368
MUT:PKD1:Leu3565Arg	PROT:P98161	PKD1	L	3565	R	L3565R	Likely pathogenic	1	1	21	422
MUT:PKD1:Leu375Ile	PROT:P98161	PKD1	L	375	I	L375I	Likely benign	0	1	21	468
MUT:PKD1:Leu3852Pro	PROT:P98161	PKD1	L	3852	P	L3852P	Likely pathogenic	1	2	21	314
MUT:PKD1:Leu3869Arg	PROT:P98161	PKD1	L	3869	R	L3869R	Likely pathogenic	1	1	21	297
MUT:PKD1:Leu3908Pro	PROT:P98161	PKD1	L	3908	P	L3908P	Pathogenic	1	1	21	258
MUT:PKD1:Leu4143Phe	PROT:P98161	PKD1	L	4143	F	L4143F	Likely benign	0	1	21	23
MUT:PKD1:Leu4197Pro	PROT:P98161	PKD1	L	4197	P	L4197P	Likely benign	0	1	21	1
MUT:PKD1:Leu422Pro	PROT:P98161	PKD1	L	422	P	L422P	Likely pathogenic	1	1	21	421
MUT:PKD1:Leu613Ile	PROT:P98161	PKD1	L	613	I	L613I	Likely benign	0	1	21	230
MUT:PKD1:Leu727Pro	PROT:P98161	PKD1	L	727	P	L727P	Pathogenic/Likely pathogenic	1	4	21	116
MUT:PKD1:Leu845Ser	PROT:P98161	PKD1	L	845	S	L845S	Pathogenic/Likely pathogenic	1	5	21	2
MUT:PKD1:Leu93Pro	PROT:P98161	PKD1	L	93	P	L93P	Likely pathogenic	1	1	21	750
MUT:PKD1:Lys3181Asn	PROT:P98161	PKD1	K	3181	N	K3181N	Likely pathogenic	1	2	21	38
MUT:PKD1:Lys3658Glu	PROT:P98161	PKD1	K	3658	E	K3658E	Likely pathogenic	1	1	21	508
MUT:PKD1:Lys4152Thr	PROT:P98161	PKD1	K	4152	T	K4152T	Likely benign	0	1	21	14
MUT:PKD1:Met1092Thr	PROT:P98161	PKD1	M	1092	T	M1092T	Benign/Likely benign	0	3	21	234
MUT:PKD1:Met1247Ile	PROT:P98161	PKD1	M	1247	I	M1247I	Likely pathogenic	1	2	21	389
MUT:PKD1:Met1Leu	PROT:P98161	PKD1	M	1	L	M1L	Pathogenic	1	1	21	842
MUT:PKD1:Phe1146Val	PROT:P98161	PKD1	F	1146	V	F1146V	Likely pathogenic	1	1	21	288
MUT:PKD1:Phe127Cys	PROT:P98161	PKD1	F	127	C	F127C	Likely pathogenic	1	1	21	716
MUT:PKD1:Phe2978Ser	PROT:P98161	PKD1	F	2978	S	F2978S	Likely pathogenic	1	1	21	165
MUT:PKD1:Phe3066Leu	PROT:P98161	PKD1	F	3066	L	F3066L	Benign/Likely benign	0	2	21	77
MUT:PKD1:Phe3168Ser	PROT:P98161	PKD1	F	3168	S	F3168S	Likely pathogenic	1	1	21	25
MUT:PKD1:Pro1076Arg	PROT:P98161	PKD1	P	1076	R	P1076R	Likely benign	0	1	21	218
MUT:PKD1:Pro1168Ser	PROT:P98161	PKD1	P	1168	S	P1168S	Benign/Likely benign	0	2	21	310
MUT:PKD1:Pro137Leu	PROT:P98161	PKD1	P	137	L	P137L	Likely benign	0	1	21	706
MUT:PKD1:Pro1771Leu	PROT:P98161	PKD1	P	1771	L	P1771L	Benign/Likely benign	0	5	21	553
MUT:PKD1:Pro2219Arg	PROT:P98161	PKD1	P	2219	R	P2219R	Likely pathogenic	1	1	21	105
MUT:PKD1:Pro2597Ala	PROT:P98161	PKD1	P	2597	A	P2597A	Likely benign	0	1	21	55
MUT:PKD1:Pro2674Ser	PROT:P98161	PKD1	P	2674	S	P2674S	Benign/Likely benign	0	2	21	22
MUT:PKD1:Pro2802Leu	PROT:P98161	PKD1	P	2802	L	P2802L	Likely benign	0	1	21	11
MUT:PKD1:Pro3412Ser	PROT:P98161	PKD1	P	3412	S	P3412S	Benign/Likely benign	0	2	21	269
MUT:PKD1:Pro3484Leu	PROT:P98161	PKD1	P	3484	L	P3484L	Likely benign	0	1	21	341
MUT:PKD1:Pro3649Arg	PROT:P98161	PKD1	P	3649	R	P3649R	Likely pathogenic	1	1	21	506
MUT:PKD1:Pro36His	PROT:P98161	PKD1	P	36	H	P36H	Benign/Likely benign	0	4	21	807
MUT:PKD1:Pro572Ser	PROT:P98161	PKD1	P	572	S	P572S	Benign/Likely benign	0	2	21	271
MUT:PKD1:Pro619Leu	PROT:P98161	PKD1	P	619	L	P619L	Likely benign	0	1	21	224
MUT:PKD1:Pro630Leu	PROT:P98161	PKD1	P	630	L	P630L	Likely benign	0	1	21	213
MUT:PKD1:Pro673Ala	PROT:P98161	PKD1	P	673	A	P673A	Likely benign	0	2	21	170
MUT:PKD1:Pro673Leu	PROT:P98161	PKD1	P	673	L	P673L	Likely benign	0	1	21	170
MUT:PKD1:Pro839Ser	PROT:P98161	PKD1	P	839	S	P839S	Likely benign	0	2	21	4
MUT:PKD1:Ser1047Leu	PROT:P98161	PKD1	S	1047	L	S1047L	Benign/Likely benign	0	2	21	189
MUT:PKD1:Ser1081Leu	PROT:P98161	PKD1	S	1081	L	S1081L	Benign	0	2	21	223
MUT:PKD1:Ser1125Ala	PROT:P98161	PKD1	S	1125	A	S1125A	Likely benign	0	1	21	267
MUT:PKD1:Ser1183Trp	PROT:P98161	PKD1	S	1183	W	S1183W	Likely benign	0	1	21	325
MUT:PKD1:Ser1684Leu	PROT:P98161	PKD1	S	1684	L	S1684L	Benign/Likely benign	0	3	21	640
MUT:PKD1:Ser1774Thr	PROT:P98161	PKD1	S	1774	T	S1774T	Benign/Likely benign	0	4	21	550
MUT:PKD1:Ser1915Leu	PROT:P98161	PKD1	S	1915	L	S1915L	Likely benign	0	1	21	409
MUT:PKD1:Ser2131Arg	PROT:P98161	PKD1	S	2131	R	S2131R	Pathogenic	1	1	21	193
MUT:PKD1:Ser2372Ala	PROT:P98161	PKD1	S	2372	A	S2372A	Likely pathogenic	1	1	21	35
MUT:PKD1:Ser2372Cys	PROT:P98161	PKD1	S	2372	C	S2372C	Pathogenic/Likely pathogenic	1	1	21	35
MUT:PKD1:Ser2423Phe	PROT:P98161	PKD1	S	2423	F	S2423F	Likely pathogenic	1	1	21	1
MUT:PKD1:Ser2423Tyr	PROT:P98161	PKD1	S	2423	Y	S2423Y	Likely pathogenic	1	1	21	1
MUT:PKD1:Ser3329Phe	PROT:P98161	PKD1	S	3329	F	S3329F	Likely pathogenic	1	1	21	186
MUT:PKD1:Ser3379Phe	PROT:P98161	PKD1	S	3379	F	S3379F	Likely benign	0	1	21	236
MUT:PKD1:Ser3466Leu	PROT:P98161	PKD1	S	3466	L	S3466L	Benign/Likely benign	0	2	21	323
MUT:PKD1:Ser372Asn	PROT:P98161	PKD1	S	372	N	S372N	Likely benign	0	1	21	471
MUT:PKD1:Ser3779Arg	PROT:P98161	PKD1	S	3779	R	S3779R	Benign/Likely benign	0	1	21	387
MUT:PKD1:Ser699Pro	PROT:P98161	PKD1	S	699	P	S699P	Likely pathogenic	1	1	21	144
MUT:PKD1:Ser75Phe	PROT:P98161	PKD1	S	75	F	S75F	Likely pathogenic	1	1	21	768
MUT:PKD1:Ser843Pro	PROT:P98161	PKD1	S	843	P	S843P	Likely benign	0	1	21	0
MUT:PKD1:Thr1773Ile	PROT:P98161	PKD1	T	1773	I	T1773I	Benign/Likely benign	0	3	21	551
MUT:PKD1:Thr2424Arg	PROT:P98161	PKD1	T	2424	R	T2424R	Likely pathogenic	1	1	21	0
MUT:PKD1:Thr2488Ile	PROT:P98161	PKD1	T	2488	I	T2488I	Benign/Likely benign	0	1	21	62
MUT:PKD1:Thr2489Ser	PROT:P98161	PKD1	T	2489	S	T2489S	Likely benign	0	2	21	63
MUT:PKD1:Thr2582Ala	PROT:P98161	PKD1	T	2582	A	T2582A	Likely benign	0	1	21	70
MUT:PKD1:Thr2708Met	PROT:P98161	PKD1	T	2708	M	T2708M	Benign/Likely benign	0	4	21	56
MUT:PKD1:Thr2756Ile	PROT:P98161	PKD1	T	2756	I	T2756I	Likely benign	0	1	21	57
MUT:PKD1:Thr276Ile	PROT:P98161	PKD1	T	276	I	T276I	Likely benign	0	1	21	567
MUT:PKD1:Thr2977Ile	PROT:P98161	PKD1	T	2977	I	T2977I	Likely pathogenic	1	1	21	164
MUT:PKD1:Thr3510Met	PROT:P98161	PKD1	T	3510	M	T3510M	Benign/Likely benign	0	3	21	367
MUT:PKD1:Thr3778Asn	PROT:P98161	PKD1	T	3778	N	T3778N	Likely benign	0	1	21	388
MUT:PKD1:Thr938Met	PROT:P98161	PKD1	T	938	M	T938M	Benign	0	1	21	80
MUT:PKD1:Trp1328Arg	PROT:P98161	PKD1	W	1328	R	W1328R	Likely pathogenic	1	1	21	470
MUT:PKD1:Trp1328Cys	PROT:P98161	PKD1	W	1328	C	W1328C	Likely pathogenic	1	1	21	470
MUT:PKD1:Trp1328Gly	PROT:P98161	PKD1	W	1328	G	W1328G	Likely pathogenic	1	1	21	470
MUT:PKD1:Trp1399Arg	PROT:P98161	PKD1	W	1399	R	W1399R	Benign/Likely benign	0	3	21	541
MUT:PKD1:Trp139Cys	PROT:P98161	PKD1	W	139	C	W139C	Likely pathogenic	1	1	21	704
MUT:PKD1:Trp139Gly	PROT:P98161	PKD1	W	139	G	W139G	Likely pathogenic	1	1	21	704
MUT:PKD1:Trp1414Gly	PROT:P98161	PKD1	W	1414	G	W1414G	Likely pathogenic	1	1	21	556
MUT:PKD1:Trp1414Ser	PROT:P98161	PKD1	W	1414	S	W1414S	Likely pathogenic	1	1	21	556
MUT:PKD1:Trp1582Cys	PROT:P98161	PKD1	W	1582	C	W1582C	Likely pathogenic	1	1	21	724
MUT:PKD1:Trp2094Gly	PROT:P98161	PKD1	W	2094	G	W2094G	Likely pathogenic	1	1	21	230
MUT:PKD1:Trp2298Cys	PROT:P98161	PKD1	W	2298	C	W2298C	Pathogenic	1	1	21	26
MUT:PKD1:Trp2298Gly	PROT:P98161	PKD1	W	2298	G	W2298G	Likely pathogenic	1	1	21	26
MUT:PKD1:Trp2405Cys	PROT:P98161	PKD1	W	2405	C	W2405C	Likely pathogenic	1	1	21	6
MUT:PKD1:Trp2405Gly	PROT:P98161	PKD1	W	2405	G	W2405G	Likely pathogenic	1	1	21	6
MUT:PKD1:Trp2882Arg	PROT:P98161	PKD1	W	2882	R	W2882R	Benign/Likely benign	0	3	21	69
MUT:PKD1:Trp3726Arg	PROT:P98161	PKD1	W	3726	R	W3726R	Pathogenic/Likely pathogenic	1	1	21	440
MUT:PKD1:Trp3806Gly	PROT:P98161	PKD1	W	3806	G	W3806G	Likely pathogenic	1	1	21	360
MUT:PKD1:Trp3842Arg	PROT:P98161	PKD1	W	3842	R	W3842R	Pathogenic/Likely pathogenic	1	1	21	324
MUT:PKD1:Tyr1095Cys	PROT:P98161	PKD1	Y	1095	C	Y1095C	Likely pathogenic	1	1	21	237
MUT:PKD1:Tyr1181Cys	PROT:P98161	PKD1	Y	1181	C	Y1181C	Likely pathogenic	1	2	21	323
MUT:PKD1:Tyr1412Asp	PROT:P98161	PKD1	Y	1412	D	Y1412D	Likely pathogenic	1	1	21	554
MUT:PKD1:Tyr2379Cys	PROT:P98161	PKD1	Y	2379	C	Y2379C	Pathogenic	1	1	21	32
MUT:PKD1:Tyr2991Asp	PROT:P98161	PKD1	Y	2991	D	Y2991D	Likely pathogenic	1	1	21	152
MUT:PKD1:Tyr528Cys	PROT:P98161	PKD1	Y	528	C	Y528C	Pathogenic	1	3	21	315
MUT:PKD1:Tyr680Phe	PROT:P98161	PKD1	Y	680	F	Y680F	Benign/Likely benign	0	1	21	163
MUT:PKD1:Val1289Met	PROT:P98161	PKD1	V	1289	M	V1289M	Likely pathogenic	1	1	21	431
MUT:PKD1:Val1604Met	PROT:P98161	PKD1	V	1604	M	V1604M	Likely benign	0	2	21	720
MUT:PKD1:Val1711Met	PROT:P98161	PKD1	V	1711	M	V1711M	Benign/Likely benign	0	4	21	613
MUT:PKD1:Val1794Met	PROT:P98161	PKD1	V	1794	M	V1794M	Likely benign	0	1	21	530
MUT:PKD1:Val1943Ile	PROT:P98161	PKD1	V	1943	I	V1943I	Benign/Likely benign	0	2	21	381
MUT:PKD1:Val2209Leu	PROT:P98161	PKD1	V	2209	L	V2209L	Likely benign	0	1	21	115
MUT:PKD1:Val2234Glu	PROT:P98161	PKD1	V	2234	E	V2234E	Likely pathogenic	1	1	21	90
MUT:PKD1:Val2378Met	PROT:P98161	PKD1	V	2378	M	V2378M	Likely benign	0	1	21	33
MUT:PKD1:Val2555Gly	PROT:P98161	PKD1	V	2555	G	V2555G	Likely pathogenic	1	1	21	97
MUT:PKD1:Val2897Ile	PROT:P98161	PKD1	V	2897	I	V2897I	Likely benign	0	2	21	84
MUT:PKD1:Val3008Met	PROT:P98161	PKD1	V	3008	M	V3008M	Benign/Likely benign	0	1	21	135
MUT:PKD1:Val3057Met	PROT:P98161	PKD1	V	3057	M	V3057M	Benign/Likely benign	0	2	21	86
MUT:PKD1:Val3124Asp	PROT:P98161	PKD1	V	3124	D	V3124D	Likely pathogenic	1	1	21	19
MUT:PKD1:Val3138Glu	PROT:P98161	PKD1	V	3138	E	V3138E	Likely pathogenic	1	1	21	5
MUT:PKD1:Val3320Ile	PROT:P98161	PKD1	V	3320	I	V3320I	Likely benign	0	1	21	177
MUT:PKD1:Val336Met	PROT:P98161	PKD1	V	336	M	V336M	Likely benign	0	1	21	507
MUT:PKD1:Val3409Leu	PROT:P98161	PKD1	V	3409	L	V3409L	Benign/Likely benign	0	2	21	266
MUT:PKD1:Val4146Ile	PROT:P98161	PKD1	V	4146	I	V4146I	Benign/Likely benign	0	2	21	20
MUT:PKD1:Val690Ile	PROT:P98161	PKD1	V	690	I	V690I	Likely benign	0	1	21	153
MUT:PKD1:Val74Ile	PROT:P98161	PKD1	V	74	I	V74I	Likely benign	0	1	21	769
MUT:PKD1:Val849Met	PROT:P98161	PKD1	V	849	M	V849M	Pathogenic	1	1	21	6
MUT:PKD1:Val882Met	PROT:P98161	PKD1	V	882	M	V882M	Likely benign	0	1	21	24
MUT:PKHD1:Ala1148Thr	PROT:P08F94	PKHD1	A	1148	T	A1148T	Likely benign	0	1	11	62
MUT:PKHD1:Ala1262Val	PROT:P08F94	PKHD1	A	1262	V	A1262V	Benign	0	3	11	176
MUT:PKHD1:Ala2009Thr	PROT:P08F94	PKHD1	A	2009	T	A2009T	Likely pathogenic	1	1	11	223
MUT:PKHD1:Ala2729Val	PROT:P08F94	PKHD1	A	2729	V	A2729V	Likely benign	0	1	11	71
MUT:PKHD1:Ala3207Thr	PROT:P08F94	PKHD1	A	3207	T	A3207T	Pathogenic/Likely pathogenic	1	3	11	2
MUT:PKHD1:Arg1235Gln	PROT:P08F94	PKHD1	R	1235	Q	R1235Q	Likely benign	0	2	11	149
MUT:PKHD1:Arg1624Trp	PROT:P08F94	PKHD1	R	1624	W	R1624W	Pathogenic/Likely pathogenic	1	8	11	162
MUT:PKHD1:Arg1909Trp	PROT:P08F94	PKHD1	R	1909	W	R1909W	Benign/Likely benign	0	2	11	123
MUT:PKHD1:Arg2298Ile	PROT:P08F94	PKHD1	R	2298	I	R2298I	Likely pathogenic	1	1	11	502
MUT:PKHD1:Arg2840Cys	PROT:P08F94	PKHD1	R	2840	C	R2840C	Pathogenic/Likely pathogenic	1	4	11	40
MUT:PKHD1:Arg2955Gln	PROT:P08F94	PKHD1	R	2955	Q	R2955Q	Likely pathogenic	1	1	11	1
MUT:PKHD1:Arg2955Leu	PROT:P08F94	PKHD1	R	2955	L	R2955L	Likely pathogenic	1	1	11	1
MUT:PKHD1:Arg3107Gln	PROT:P08F94	PKHD1	R	3107	Q	R3107Q	Likely benign	0	1	11	102
MUT:PKHD1:Arg3240Gln	PROT:P08F94	PKHD1	R	3240	Q	R3240Q	Pathogenic/Likely pathogenic	1	2	11	31
MUT:PKHD1:Arg328Gly	PROT:P08F94	PKHD1	R	328	G	R328G	Likely pathogenic	1	1	11	71
MUT:PKHD1:Arg3333Lys	PROT:P08F94	PKHD1	R	3333	K	R3333K	Likely pathogenic	1	1	11	124
MUT:PKHD1:Arg3333Thr	PROT:P08F94	PKHD1	R	3333	T	R3333T	Pathogenic/Likely pathogenic	1	2	11	124
MUT:PKHD1:Arg3482Cys	PROT:P08F94	PKHD1	R	3482	C	R3482C	Pathogenic/Likely pathogenic	1	3	11	137
MUT:PKHD1:Arg375Trp	PROT:P08F94	PKHD1	R	375	W	R375W	Pathogenic/Likely pathogenic	1	3	11	118
MUT:PKHD1:Arg3773Ile	PROT:P08F94	PKHD1	R	3773	I	R3773I	Likely benign	0	2	11	67
MUT:PKHD1:Arg3842Gln	PROT:P08F94	PKHD1	R	3842	Q	R3842Q	Likely benign	0	2	11	2
MUT:PKHD1:Arg3842Leu	PROT:P08F94	PKHD1	R	3842	L	R3842L	Benign	0	2	11	2
MUT:PKHD1:Arg3913His	PROT:P08F94	PKHD1	R	3913	H	R3913H	Benign/Likely benign	0	2	11	73
MUT:PKHD1:Arg559Trp	PROT:P08F94	PKHD1	R	559	W	R559W	Benign	0	1	11	302
MUT:PKHD1:Arg760Cys	PROT:P08F94	PKHD1	R	760	C	R760C	Benign	0	3	11	111
MUT:PKHD1:Arg760His	PROT:P08F94	PKHD1	R	760	H	R760H	Pathogenic/Likely pathogenic	1	3	11	111
MUT:PKHD1:Arg783Gln	PROT:P08F94	PKHD1	R	783	Q	R783Q	Benign	0	1	11	88
MUT:PKHD1:Asn1744His	PROT:P08F94	PKHD1	N	1744	H	N1744H	Likely pathogenic	1	1	11	42
MUT:PKHD1:Asn1779Ser	PROT:P08F94	PKHD1	N	1779	S	N1779S	Likely pathogenic	1	1	11	7
MUT:PKHD1:Asn1915Ser	PROT:P08F94	PKHD1	N	1915	S	N1915S	Likely benign	0	1	11	129
MUT:PKHD1:Asn2071His	PROT:P08F94	PKHD1	N	2071	H	N2071H	Benign/Likely benign	0	2	11	285
MUT:PKHD1:Asn3063Tyr	PROT:P08F94	PKHD1	N	3063	Y	N3063Y	Likely pathogenic	1	1	11	109
MUT:PKHD1:Asn830Ser	PROT:P08F94	PKHD1	N	830	S	N830S	Benign	0	3	11	41
MUT:PKHD1:Asn901Thr	PROT:P08F94	PKHD1	N	901	T	N901T	Pathogenic/Likely pathogenic	1	3	11	30
MUT:PKHD1:Asp1450Glu	PROT:P08F94	PKHD1	D	1450	E	D1450E	Likely benign	0	1	11	336
MUT:PKHD1:Asp1942Gly	PROT:P08F94	PKHD1	D	1942	G	D1942G	Pathogenic/Likely pathogenic	1	3	11	156
MUT:PKHD1:Asp1944Asn	PROT:P08F94	PKHD1	D	1944	N	D1944N	Pathogenic/Likely pathogenic	1	2	11	158
MUT:PKHD1:Asp2433Val	PROT:P08F94	PKHD1	D	2433	V	D2433V	Benign	0	2	11	367
MUT:PKHD1:Asp2762Val	PROT:P08F94	PKHD1	D	2762	V	D2762V	Likely pathogenic	1	1	11	38
MUT:PKHD1:Asp3154Asn	PROT:P08F94	PKHD1	D	3154	N	D3154N	Likely pathogenic	1	1	11	55
MUT:PKHD1:Asp3154Gly	PROT:P08F94	PKHD1	D	3154	G	D3154G	Pathogenic/Likely pathogenic	1	3	11	55
MUT:PKHD1:Asp3293Asn	PROT:P08F94	PKHD1	D	3293	N	D3293N	Likely pathogenic	1	2	11	84
MUT:PKHD1:Asp3409Val	PROT:P08F94	PKHD1	D	3409	V	D3409V	Likely pathogenic	1	2	11	200
MUT:PKHD1:Asp703Asn	PROT:P08F94	PKHD1	D	703	N	D703N	Pathogenic/Likely pathogenic	1	2	11	168
MUT:PKHD1:Cys1249Trp	PROT:P08F94	PKHD1	C	1249	W	C1249W	Pathogenic/Likely pathogenic	1	3	11	163
MUT:PKHD1:Cys1431Phe	PROT:P08F94	PKHD1	C	1431	F	C1431F	Likely pathogenic	1	1	11	345
MUT:PKHD1:Cys1431Ser	PROT:P08F94	PKHD1	C	1431	S	C1431S	Pathogenic/Likely pathogenic	1	2	11	345
MUT:PKHD1:Cys1431Trp	PROT:P08F94	PKHD1	C	1431	W	C1431W	Likely pathogenic	1	1	11	345
MUT:PKHD1:Cys1472Tyr	PROT:P08F94	PKHD1	C	1472	Y	C1472Y	Pathogenic	1	1	11	314
MUT:PKHD1:Cys1561Tyr	PROT:P08F94	PKHD1	C	1561	Y	C1561Y	Likely pathogenic	1	2	11	225
MUT:PKHD1:Cys1613Phe	PROT:P08F94	PKHD1	C	1613	F	C1613F	Likely pathogenic	1	1	11	173
MUT:PKHD1:Cys1613Tyr	PROT:P08F94	PKHD1	C	1613	Y	C1613Y	Pathogenic/Likely pathogenic	1	2	11	173
MUT:PKHD1:Cys1692Ser	PROT:P08F94	PKHD1	C	1692	S	C1692S	Pathogenic	1	1	11	94
MUT:PKHD1:Cys1692Tyr	PROT:P08F94	PKHD1	C	1692	Y	C1692Y	Pathogenic/Likely pathogenic	1	1	11	94
MUT:PKHD1:Cys2050Ser	PROT:P08F94	PKHD1	C	2050	S	C2050S	Likely benign	0	1	11	264
MUT:PKHD1:Cys2422Arg	PROT:P08F94	PKHD1	C	2422	R	C2422R	Pathogenic/Likely pathogenic	1	2	11	378
MUT:PKHD1:Cys2803Arg	PROT:P08F94	PKHD1	C	2803	R	C2803R	Pathogenic/Likely pathogenic	1	3	11	3
MUT:PKHD1:Cys2803Tyr	PROT:P08F94	PKHD1	C	2803	Y	C2803Y	Likely pathogenic	1	2	11	3
MUT:PKHD1:Cys2965Arg	PROT:P08F94	PKHD1	C	2965	R	C2965R	Pathogenic/Likely pathogenic	1	2	11	11
MUT:PKHD1:Cys3394Arg	PROT:P08F94	PKHD1	C	3394	R	C3394R	Likely pathogenic	1	1	11	185
MUT:PKHD1:Cys3472Gly	PROT:P08F94	PKHD1	C	3472	G	C3472G	Likely pathogenic	1	2	11	147
MUT:PKHD1:Cys971Arg	PROT:P08F94	PKHD1	C	971	R	C971R	Likely pathogenic	1	1	11	100
MUT:PKHD1:Gln225Glu	PROT:P08F94	PKHD1	Q	225	E	Q225E	Likely pathogenic	1	2	11	30
MUT:PKHD1:Gln2304Arg	PROT:P08F94	PKHD1	Q	2304	R	Q2304R	Likely benign	0	1	11	496
MUT:PKHD1:Gln3899Arg	PROT:P08F94	PKHD1	Q	3899	R	Q3899R	Benign	0	3	11	59
MUT:PKHD1:Gln4026Glu	PROT:P08F94	PKHD1	Q	4026	E	Q4026E	Likely benign	0	1	11	186
MUT:PKHD1:Gln4048Arg	PROT:P08F94	PKHD1	Q	4048	R	Q4048R	Benign	0	3	11	208
MUT:PKHD1:Glu1995Gly	PROT:P08F94	PKHD1	E	1995	G	E1995G	Likely pathogenic	1	1	11	209
MUT:PKHD1:Glu3166Gln	PROT:P08F94	PKHD1	E	3166	Q	E3166Q	Likely benign	0	1	11	43
MUT:PKHD1:Glu3502Val	PROT:P08F94	PKHD1	E	3502	V	E3502V	Likely pathogenic	1	2	11	117
MUT:PKHD1:Glu3529Gln	PROT:P08F94	PKHD1	E	3529	Q	E3529Q	Benign/Likely benign	0	2	11	90
MUT:PKHD1:Glu3582Ala	PROT:P08F94	PKHD1	E	3582	A	E3582A	Pathogenic	1	1	11	37
MUT:PKHD1:Gly1046Asp	PROT:P08F94	PKHD1	G	1046	D	G1046D	Likely benign	0	1	11	32
MUT:PKHD1:Gly1053Arg	PROT:P08F94	PKHD1	G	1053	R	G1053R	Likely pathogenic	1	2	11	25
MUT:PKHD1:Gly1122Ser	PROT:P08F94	PKHD1	G	1122	S	G1122S	Pathogenic/Likely pathogenic	1	1	11	36
MUT:PKHD1:Gly1123Ser	PROT:P08F94	PKHD1	G	1123	S	G1123S	Pathogenic/Likely pathogenic	1	2	11	37
MUT:PKHD1:Gly1180Glu	PROT:P08F94	PKHD1	G	1180	E	G1180E	Likely pathogenic	1	1	11	94
MUT:PKHD1:Gly1449Val	PROT:P08F94	PKHD1	G	1449	V	G1449V	Likely pathogenic	1	1	11	337
MUT:PKHD1:Gly157Asp	PROT:P08F94	PKHD1	G	157	D	G157D	Pathogenic	1	2	11	98
MUT:PKHD1:Gly1600Arg	PROT:P08F94	PKHD1	G	1600	R	G1600R	Likely pathogenic	1	1	11	186
MUT:PKHD1:Gly1971Asp	PROT:P08F94	PKHD1	G	1971	D	G1971D	Pathogenic/Likely pathogenic	1	3	11	185
MUT:PKHD1:Gly1979Arg	PROT:P08F94	PKHD1	G	1979	R	G1979R	Pathogenic/Likely pathogenic	1	3	11	193
MUT:PKHD1:Gly2007Val	PROT:P08F94	PKHD1	G	2007	V	G2007V	Likely pathogenic	1	1	11	221
MUT:PKHD1:Gly2233Asp	PROT:P08F94	PKHD1	G	2233	D	G2233D	Likely benign	0	1	11	447
MUT:PKHD1:Gly223Ser	PROT:P08F94	PKHD1	G	223	S	G223S	Pathogenic/Likely pathogenic	1	2	11	32
MUT:PKHD1:Gly2402Ala	PROT:P08F94	PKHD1	G	2402	A	G2402A	Likely pathogenic	1	1	11	398
MUT:PKHD1:Gly2648Ser	PROT:P08F94	PKHD1	G	2648	S	G2648S	Benign	0	3	11	152
MUT:PKHD1:Gly2744Asp	PROT:P08F94	PKHD1	G	2744	D	G2744D	Likely benign	0	1	11	56
MUT:PKHD1:Gly2809Glu	PROT:P08F94	PKHD1	G	2809	E	G2809E	Likely pathogenic	1	1	11	9
MUT:PKHD1:Gly281Glu	PROT:P08F94	PKHD1	G	281	E	G281E	Likely pathogenic	1	1	11	24
MUT:PKHD1:Gly2984Ala	PROT:P08F94	PKHD1	G	2984	A	G2984A	Likely pathogenic	1	1	11	30
MUT:PKHD1:Gly3103Arg	PROT:P08F94	PKHD1	G	3103	R	G3103R	Likely pathogenic	1	1	11	106
MUT:PKHD1:Gly3178Cys	PROT:P08F94	PKHD1	G	3178	C	G3178C	Likely pathogenic	1	1	11	31
MUT:PKHD1:Gly3178Val	PROT:P08F94	PKHD1	G	3178	V	G3178V	Likely pathogenic	1	2	11	31
MUT:PKHD1:Gly3239Ser	PROT:P08F94	PKHD1	G	3239	S	G3239S	Likely pathogenic	1	1	11	30
MUT:PKHD1:Gly363Glu	PROT:P08F94	PKHD1	G	363	E	G363E	Benign/Likely benign	0	3	11	106
MUT:PKHD1:Gly466Ala	PROT:P08F94	PKHD1	G	466	A	G466A	Likely pathogenic	1	2	11	209
MUT:PKHD1:Gly466Arg	PROT:P08F94	PKHD1	G	466	R	G466R	Likely pathogenic	1	2	11	209
MUT:PKHD1:Gly466Glu	PROT:P08F94	PKHD1	G	466	E	G466E	Pathogenic/Likely pathogenic	1	2	11	209
MUT:PKHD1:Gly470Val	PROT:P08F94	PKHD1	G	470	V	G470V	Likely pathogenic	1	2	11	213
MUT:PKHD1:Gly952Arg	PROT:P08F94	PKHD1	G	952	R	G952R	Pathogenic/Likely pathogenic	1	3	11	81
MUT:PKHD1:Gly952Glu	PROT:P08F94	PKHD1	G	952	E	G952E	Likely pathogenic	1	1	11	81
MUT:PKHD1:His2265Leu	PROT:P08F94	PKHD1	H	2265	L	H2265L	Pathogenic/Likely pathogenic	1	1	11	479
MUT:PKHD1:His2265Tyr	PROT:P08F94	PKHD1	H	2265	Y	H2265Y	Likely pathogenic	1	2	11	479
MUT:PKHD1:His2655Arg	PROT:P08F94	PKHD1	H	2655	R	H2655R	Pathogenic/Likely pathogenic	1	1	11	145
MUT:PKHD1:His2655Asn	PROT:P08F94	PKHD1	H	2655	N	H2655N	Likely pathogenic	1	1	11	145
MUT:PKHD1:His2845Arg	PROT:P08F94	PKHD1	H	2845	R	H2845R	Likely benign	0	1	11	45
MUT:PKHD1:His3049Arg	PROT:P08F94	PKHD1	H	3049	R	H3049R	Likely pathogenic	1	3	11	95
MUT:PKHD1:His3124Arg	PROT:P08F94	PKHD1	H	3124	R	H3124R	Likely pathogenic	1	1	11	85
MUT:PKHD1:His3124Pro	PROT:P08F94	PKHD1	H	3124	P	H3124P	Pathogenic/Likely pathogenic	1	2	11	85
MUT:PKHD1:His3124Tyr	PROT:P08F94	PKHD1	H	3124	Y	H3124Y	Pathogenic/Likely pathogenic	1	2	11	85
MUT:PKHD1:His401Tyr	PROT:P08F94	PKHD1	H	401	Y	H401Y	Likely benign	0	1	11	144
MUT:PKHD1:His491Pro	PROT:P08F94	PKHD1	H	491	P	H491P	Likely pathogenic	1	1	11	234
MUT:PKHD1:His916Pro	PROT:P08F94	PKHD1	H	916	P	H916P	Likely pathogenic	1	1	11	45
MUT:PKHD1:Ile153Thr	PROT:P08F94	PKHD1	I	153	T	I153T	Likely pathogenic	1	1	11	102
MUT:PKHD1:Ile1687Arg	PROT:P08F94	PKHD1	I	1687	R	I1687R	Likely pathogenic	1	1	11	99
MUT:PKHD1:Ile1687Thr	PROT:P08F94	PKHD1	I	1687	T	I1687T	Pathogenic/Likely pathogenic	1	2	11	99
MUT:PKHD1:Ile1988Thr	PROT:P08F94	PKHD1	I	1988	T	I1988T	Likely pathogenic	1	1	11	202
MUT:PKHD1:Ile1998Thr	PROT:P08F94	PKHD1	I	1998	T	I1998T	Likely pathogenic	1	2	11	212
MUT:PKHD1:Ile222Met	PROT:P08F94	PKHD1	I	222	M	I222M	Likely pathogenic	1	1	11	33
MUT:PKHD1:Ile222Val	PROT:P08F94	PKHD1	I	222	V	I222V	Pathogenic/Likely pathogenic	1	4	11	33
MUT:PKHD1:Ile2303Phe	PROT:P08F94	PKHD1	I	2303	F	I2303F	Pathogenic/Likely pathogenic	1	2	11	497
MUT:PKHD1:Ile2331Lys	PROT:P08F94	PKHD1	I	2331	K	I2331K	Pathogenic/Likely pathogenic	1	4	11	469
MUT:PKHD1:Ile246Thr	PROT:P08F94	PKHD1	I	246	T	I246T	Pathogenic/Likely pathogenic	1	2	11	9
MUT:PKHD1:Ile2851Thr	PROT:P08F94	PKHD1	I	2851	T	I2851T	Pathogenic/Likely pathogenic	1	2	11	51
MUT:PKHD1:Ile2957Thr	PROT:P08F94	PKHD1	I	2957	T	I2957T	Pathogenic	1	5	11	3
MUT:PKHD1:Ile3051Thr	PROT:P08F94	PKHD1	I	3051	T	I3051T	Likely pathogenic	1	2	11	97
MUT:PKHD1:Ile307Thr	PROT:P08F94	PKHD1	I	307	T	I307T	Pathogenic/Likely pathogenic	1	2	11	50
MUT:PKHD1:Ile3319Met	PROT:P08F94	PKHD1	I	3319	M	I3319M	Likely benign	0	1	11	110
MUT:PKHD1:Ile3553Thr	PROT:P08F94	PKHD1	I	3553	T	I3553T	Pathogenic/Likely pathogenic	1	3	11	66
MUT:PKHD1:Ile3905Asn	PROT:P08F94	PKHD1	I	3905	N	I3905N	Benign	0	2	11	65
MUT:PKHD1:Ile473Ser	PROT:P08F94	PKHD1	I	473	S	I473S	Likely pathogenic	1	1	11	216
MUT:PKHD1:Ile539Thr	PROT:P08F94	PKHD1	I	539	T	I539T	Likely pathogenic	1	1	11	282
MUT:PKHD1:Ile707Thr	PROT:P08F94	PKHD1	I	707	T	I707T	Pathogenic	1	1	11	164
MUT:PKHD1:Leu1096Pro	PROT:P08F94	PKHD1	L	1096	P	L1096P	Likely pathogenic	1	1	11	10
MUT:PKHD1:Leu1315Arg	PROT:P08F94	PKHD1	L	1315	R	L1315R	Likely pathogenic	1	1	11	229
MUT:PKHD1:Leu1407Arg	PROT:P08F94	PKHD1	L	1407	R	L1407R	Pathogenic/Likely pathogenic	1	2	11	321
MUT:PKHD1:Leu1407Pro	PROT:P08F94	PKHD1	L	1407	P	L1407P	Likely pathogenic	1	1	11	321
MUT:PKHD1:Leu1425Arg	PROT:P08F94	PKHD1	L	1425	R	L1425R	Likely pathogenic	1	1	11	339
MUT:PKHD1:Leu1870Val	PROT:P08F94	PKHD1	L	1870	V	L1870V	Benign	0	3	11	84
MUT:PKHD1:Leu2220His	PROT:P08F94	PKHD1	L	2220	H	L2220H	Likely pathogenic	1	1	11	434
MUT:PKHD1:Leu2244His	PROT:P08F94	PKHD1	L	2244	H	L2244H	Likely pathogenic	1	1	11	458
MUT:PKHD1:Leu2531Pro	PROT:P08F94	PKHD1	L	2531	P	L2531P	Likely pathogenic	1	1	11	269
MUT:PKHD1:Leu271His	PROT:P08F94	PKHD1	L	271	H	L271H	Likely benign	0	2	11	14
MUT:PKHD1:Leu2988His	PROT:P08F94	PKHD1	L	2988	H	L2988H	Likely pathogenic	1	1	11	34
MUT:PKHD1:Leu3353His	PROT:P08F94	PKHD1	L	3353	H	L3353H	Likely pathogenic	1	1	11	144
MUT:PKHD1:Leu3543Ser	PROT:P08F94	PKHD1	L	3543	S	L3543S	Pathogenic	1	1	11	76
MUT:PKHD1:Leu400Ser	PROT:P08F94	PKHD1	L	400	S	L400S	Likely pathogenic	1	2	11	143
MUT:PKHD1:Lys626Arg	PROT:P08F94	PKHD1	K	626	R	K626R	Benign/Likely benign	0	2	11	245
MUT:PKHD1:Met198Val	PROT:P08F94	PKHD1	M	198	V	M198V	Likely benign	0	1	11	57
MUT:PKHD1:Met1Ile	PROT:P08F94	PKHD1	M	1	I	M1I	Pathogenic/Likely pathogenic	1	1	11	254
MUT:PKHD1:Met1Thr	PROT:P08F94	PKHD1	M	1	T	M1T	Pathogenic	1	1	11	254
MUT:PKHD1:Met1Val	PROT:P08F94	PKHD1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	3	11	254
MUT:PKHD1:Met2574Arg	PROT:P08F94	PKHD1	M	2574	R	M2574R	Likely pathogenic	1	1	11	226
MUT:PKHD1:Met2804Lys	PROT:P08F94	PKHD1	M	2804	K	M2804K	Likely pathogenic	1	2	11	4
MUT:PKHD1:Met3158Thr	PROT:P08F94	PKHD1	M	3158	T	M3158T	Likely pathogenic	1	1	11	51
MUT:PKHD1:Met627Lys	PROT:P08F94	PKHD1	M	627	K	M627K	Pathogenic/Likely pathogenic	1	3	11	244
MUT:PKHD1:Phe283Ile	PROT:P08F94	PKHD1	F	283	I	F283I	Likely pathogenic	1	1	11	26
MUT:PKHD1:Pro1628Ala	PROT:P08F94	PKHD1	P	1628	A	P1628A	Pathogenic	1	2	11	158
MUT:PKHD1:Pro3762Leu	PROT:P08F94	PKHD1	P	3762	L	P3762L	Likely pathogenic	1	1	11	78
MUT:PKHD1:Pro3762Thr	PROT:P08F94	PKHD1	P	3762	T	P3762T	Likely pathogenic	1	2	11	78
MUT:PKHD1:Pro676Arg	PROT:P08F94	PKHD1	P	676	R	P676R	Benign/Likely benign	0	2	11	195
MUT:PKHD1:Pro739Leu	PROT:P08F94	PKHD1	P	739	L	P739L	Pathogenic/Likely pathogenic	1	2	11	132
MUT:PKHD1:Pro755Leu	PROT:P08F94	PKHD1	P	755	L	P755L	Pathogenic/Likely pathogenic	1	3	11	116
MUT:PKHD1:Ser1093Phe	PROT:P08F94	PKHD1	S	1093	F	S1093F	Likely benign	0	1	11	7
MUT:PKHD1:Ser1104Ala	PROT:P08F94	PKHD1	S	1104	A	S1104A	Likely benign	0	1	11	18
MUT:PKHD1:Ser1156Leu	PROT:P08F94	PKHD1	S	1156	L	S1156L	Pathogenic/Likely pathogenic	1	5	11	70
MUT:PKHD1:Ser1664Phe	PROT:P08F94	PKHD1	S	1664	F	S1664F	Pathogenic	1	1	11	122
MUT:PKHD1:Ser1929Pro	PROT:P08F94	PKHD1	S	1929	P	S1929P	Likely pathogenic	1	1	11	143
MUT:PKHD1:Ser2510Tyr	PROT:P08F94	PKHD1	S	2510	Y	S2510Y	Likely pathogenic	1	1	11	290
MUT:PKHD1:Ser270Gly	PROT:P08F94	PKHD1	S	270	G	S270G	Likely pathogenic	1	1	11	13
MUT:PKHD1:Ser2833Pro	PROT:P08F94	PKHD1	S	2833	P	S2833P	Likely pathogenic	1	1	11	33
MUT:PKHD1:Ser3505Arg	PROT:P08F94	PKHD1	S	3505	R	S3505R	Benign/Likely benign	0	2	11	114
MUT:PKHD1:Thr1264Ser	PROT:P08F94	PKHD1	T	1264	S	T1264S	Benign	0	1	11	178
MUT:PKHD1:Thr1615Met	PROT:P08F94	PKHD1	T	1615	M	T1615M	Benign/Likely benign	0	3	11	171
MUT:PKHD1:Thr1960Arg	PROT:P08F94	PKHD1	T	1960	R	T1960R	Likely pathogenic	1	1	11	174
MUT:PKHD1:Thr2318Pro	PROT:P08F94	PKHD1	T	2318	P	T2318P	Likely pathogenic	1	1	11	482
MUT:PKHD1:Thr2641Ala	PROT:P08F94	PKHD1	T	2641	A	T2641A	Benign/Likely benign	0	5	11	159
MUT:PKHD1:Thr2869Lys	PROT:P08F94	PKHD1	T	2869	K	T2869K	Benign/Likely benign	0	3	11	69
MUT:PKHD1:Thr311Ala	PROT:P08F94	PKHD1	T	311	A	T311A	Likely pathogenic	1	2	11	54
MUT:PKHD1:Thr311Ile	PROT:P08F94	PKHD1	T	311	I	T311I	Likely pathogenic	1	1	11	54
MUT:PKHD1:Thr36Ala	PROT:P08F94	PKHD1	T	36	A	T36A	Likely pathogenic	1	1	11	219
MUT:PKHD1:Thr36Met	PROT:P08F94	PKHD1	T	36	M	T36M	Pathogenic/Likely pathogenic	1	7	11	219
MUT:PKHD1:Thr579Met	PROT:P08F94	PKHD1	T	579	M	T579M	Benign/Likely benign	0	3	11	292
MUT:PKHD1:Thr661Pro	PROT:P08F94	PKHD1	T	661	P	T661P	Likely pathogenic	1	1	11	210
MUT:PKHD1:Thr764Ile	PROT:P08F94	PKHD1	T	764	I	T764I	Likely benign	0	2	11	107
MUT:PKHD1:Thr842Pro	PROT:P08F94	PKHD1	T	842	P	T842P	Likely pathogenic	1	1	11	29
MUT:PKHD1:Thr979Ile	PROT:P08F94	PKHD1	T	979	I	T979I	Pathogenic/Likely pathogenic	1	2	11	99
MUT:PKHD1:Trp1229Ser	PROT:P08F94	PKHD1	W	1229	S	W1229S	Benign/Likely benign	0	2	11	143
MUT:PKHD1:Trp1725Ser	PROT:P08F94	PKHD1	W	1725	S	W1725S	Pathogenic/Likely pathogenic	1	2	11	61
MUT:PKHD1:Trp2690Arg	PROT:P08F94	PKHD1	W	2690	R	W2690R	Pathogenic/Likely pathogenic	1	3	11	110
MUT:PKHD1:Trp2690Gly	PROT:P08F94	PKHD1	W	2690	G	W2690G	Likely pathogenic	1	1	11	110
MUT:PKHD1:Trp2690Ser	PROT:P08F94	PKHD1	W	2690	S	W2690S	Likely pathogenic	1	1	11	110
MUT:PKHD1:Trp2736Arg	PROT:P08F94	PKHD1	W	2736	R	W2736R	Likely pathogenic	1	1	11	64
MUT:PKHD1:Trp3077Ser	PROT:P08F94	PKHD1	W	3077	S	W3077S	Likely pathogenic	1	1	11	123
MUT:PKHD1:Trp3576Leu	PROT:P08F94	PKHD1	W	3576	L	W3576L	Likely pathogenic	1	1	11	43
MUT:PKHD1:Trp3871Arg	PROT:P08F94	PKHD1	W	3871	R	W3871R	Pathogenic/Likely pathogenic	1	2	11	31
MUT:PKHD1:Trp656Cys	PROT:P08F94	PKHD1	W	656	C	W656C	Pathogenic	1	1	11	215
MUT:PKHD1:Trp848Arg	PROT:P08F94	PKHD1	W	848	R	W848R	Likely pathogenic	1	1	11	23
MUT:PKHD1:Tyr1838Cys	PROT:P08F94	PKHD1	Y	1838	C	Y1838C	Pathogenic/Likely pathogenic	1	2	11	52
MUT:PKHD1:Tyr3155Cys	PROT:P08F94	PKHD1	Y	3155	C	Y3155C	Pathogenic/Likely pathogenic	1	2	11	54
MUT:PKHD1:Val1287Gly	PROT:P08F94	PKHD1	V	1287	G	V1287G	Likely benign	0	1	11	201
MUT:PKHD1:Val1338Ala	PROT:P08F94	PKHD1	V	1338	A	V1338A	Likely benign	0	1	11	252
MUT:PKHD1:Val1674Gly	PROT:P08F94	PKHD1	V	1674	G	V1674G	Likely pathogenic	1	1	11	112
MUT:PKHD1:Val1849Met	PROT:P08F94	PKHD1	V	1849	M	V1849M	Likely benign	0	1	11	63
MUT:PKHD1:Val1875Gly	PROT:P08F94	PKHD1	V	1875	G	V1875G	Likely pathogenic	1	2	11	89
MUT:PKHD1:Val2154Ala	PROT:P08F94	PKHD1	V	2154	A	V2154A	Likely benign	0	1	11	368
MUT:PKHD1:Val2254Gly	PROT:P08F94	PKHD1	V	2254	G	V2254G	Pathogenic/Likely pathogenic	1	2	11	468
MUT:PKHD1:Val264Met	PROT:P08F94	PKHD1	V	264	M	V264M	Likely pathogenic	1	1	11	7
MUT:PKHD1:Val2771Ala	PROT:P08F94	PKHD1	V	2771	A	V2771A	Likely pathogenic	1	1	11	29
MUT:PKHD1:Val2773Gly	PROT:P08F94	PKHD1	V	2773	G	V2773G	Likely pathogenic	1	2	11	27
MUT:PKHD1:Val2773Leu	PROT:P08F94	PKHD1	V	2773	L	V2773L	Pathogenic/Likely pathogenic	1	3	11	27
MUT:PKHD1:Val2836Ile	PROT:P08F94	PKHD1	V	2836	I	V2836I	Likely benign	0	1	11	36
MUT:PKHD1:Val3193Ile	PROT:P08F94	PKHD1	V	3193	I	V3193I	Benign/Likely benign	0	2	11	16
MUT:PKHD1:Val334Asp	PROT:P08F94	PKHD1	V	334	D	V334D	Likely pathogenic	1	1	11	77
MUT:PKHD1:Val3433Met	PROT:P08F94	PKHD1	V	3433	M	V3433M	Likely benign	0	1	11	186
MUT:PKHD1:Val3471Gly	PROT:P08F94	PKHD1	V	3471	G	V3471G	Pathogenic/Likely pathogenic	1	2	11	148
MUT:PKHD1:Val3837Ile	PROT:P08F94	PKHD1	V	3837	I	V3837I	Benign	0	2	11	3
MUT:PKHD1:Val3960Ile	PROT:P08F94	PKHD1	V	3960	I	V3960I	Benign/Likely benign	0	2	11	120
MUT:PKHD1L1:Ala3103Pro	PROT:Q86WI1	PKHD1L1	A	3103	P	A3103P	Likely benign	0	1	9	404
MUT:PKHD1L1:Arg3279Cys	PROT:Q86WI1	PKHD1L1	R	3279	C	R3279C	Likely benign	0	1	9	580
MUT:PKHD1L1:Glu1631Lys	PROT:Q86WI1	PKHD1L1	E	1631	K	E1631K	Likely benign	0	1	9	827
MUT:PKHD1L1:Gly129Ser	PROT:Q86WI1	PKHD1L1	G	129	S	G129S	Pathogenic	1	1	9	44
MUT:PKHD1L1:Gly1314Val	PROT:Q86WI1	PKHD1L1	G	1314	V	G1314V	Pathogenic	1	1	9	510
MUT:PKHD1L1:Gly605Arg	PROT:Q86WI1	PKHD1L1	G	605	R	G605R	Pathogenic	1	1	9	99
MUT:PKHD1L1:Thr2635Met	PROT:Q86WI1	PKHD1L1	T	2635	M	T2635M	Likely benign	0	1	9	57
MUT:PKHD1L1:Trp2402Arg	PROT:Q86WI1	PKHD1L1	W	2402	R	W2402R	Likely benign	0	1	9	290
MUT:PKHD1L1:Tyr884Cys	PROT:Q86WI1	PKHD1L1	Y	884	C	Y884C	Likely benign	0	1	9	80
MUT:PKHD1L1:Val3391Ile	PROT:Q86WI1	PKHD1L1	V	3391	I	V3391I	Likely benign	0	1	9	692
MUT:PKLR:Arg337Pro	PROT:P30613	PKLR	R	337	P	R337P	Likely pathogenic	1	1	21	11
MUT:PKLR:Arg359Pro	PROT:P30613	PKLR	R	359	P	R359P	Likely pathogenic	1	1	21	5
MUT:PKLR:Arg385Lys	PROT:P30613	PKLR	R	385	K	R385K	Likely pathogenic	1	1	21	3
MUT:PKLR:Arg479His	PROT:P30613	PKLR	R	479	H	R479H	Pathogenic	1	1	21	1
MUT:PKLR:Arg486Trp	PROT:P30613	PKLR	R	486	W	R486W	Pathogenic/Likely pathogenic	1	3	21	6
MUT:PKLR:Arg490Leu	PROT:P30613	PKLR	R	490	L	R490L	Likely pathogenic	1	1	21	10
MUT:PKLR:Arg498Ser	PROT:P30613	PKLR	R	498	S	R498S	Likely pathogenic	1	1	21	18
MUT:PKLR:Arg504His	PROT:P30613	PKLR	R	504	H	R504H	Likely pathogenic	1	1	21	24
MUT:PKLR:Arg504Leu	PROT:P30613	PKLR	R	504	L	R504L	Likely pathogenic	1	1	21	24
MUT:PKLR:Arg510Gln	PROT:P30613	PKLR	R	510	Q	R510Q	Pathogenic	1	3	21	30
MUT:PKLR:Arg531Ser	PROT:P30613	PKLR	R	531	S	R531S	Likely pathogenic	1	1	21	25
MUT:PKLR:Arg532Pro	PROT:P30613	PKLR	R	532	P	R532P	Likely pathogenic	1	1	21	24
MUT:PKLR:Arg532Trp	PROT:P30613	PKLR	R	532	W	R532W	Pathogenic	1	2	21	24
MUT:PKLR:Asn393Ser	PROT:P30613	PKLR	N	393	S	N393S	Pathogenic/Likely pathogenic	1	2	21	5
MUT:PKLR:Asp331Glu	PROT:P30613	PKLR	D	331	E	D331E	Pathogenic/Likely pathogenic	1	1	21	17
MUT:PKLR:Gln421Lys	PROT:P30613	PKLR	Q	421	K	Q421K	Pathogenic	1	1	21	2
MUT:PKLR:Gly111Arg	PROT:P30613	PKLR	G	111	R	G111R	Pathogenic/Likely pathogenic	1	1	21	2
MUT:PKLR:Gly275Arg	PROT:P30613	PKLR	G	275	R	G275R	Likely pathogenic	1	1	21	17
MUT:PKLR:Gly305Glu	PROT:P30613	PKLR	G	305	E	G305E	Likely pathogenic	1	1	21	4
MUT:PKLR:Gly332Ser	PROT:P30613	PKLR	G	332	S	G332S	Pathogenic	1	1	21	16
MUT:PKLR:Gly341Ala	PROT:P30613	PKLR	G	341	A	G341A	Pathogenic/Likely pathogenic	1	1	21	7
MUT:PKLR:Gly364Asp	PROT:P30613	PKLR	G	364	D	G364D	Pathogenic	1	1	21	10
MUT:PKLR:Ile471Phe	PROT:P30613	PKLR	I	471	F	I471F	Likely pathogenic	1	1	21	9
MUT:PKLR:Leu75Pro	PROT:P30613	PKLR	L	75	P	L75P	Likely pathogenic	1	1	21	32
MUT:PKLR:Met356Arg	PROT:P30613	PKLR	M	356	R	M356R	Likely pathogenic	1	1	21	2
MUT:PKLR:Pro414Arg	PROT:P30613	PKLR	P	414	R	P414R	Likely pathogenic	1	1	21	5
MUT:PKLR:Ser130Tyr	PROT:P30613	PKLR	S	130	Y	S130Y	Pathogenic	1	1	21	21
MUT:PKLR:Ser286Phe	PROT:P30613	PKLR	S	286	F	S286F	Likely pathogenic	1	1	21	6
MUT:PKLR:Thr384Met	PROT:P30613	PKLR	T	384	M	T384M	Pathogenic/Likely pathogenic	1	1	21	4
MUT:PKLR:Trp201Leu	PROT:P30613	PKLR	W	201	L	W201L	Likely pathogenic	1	1	21	17
MUT:PKLR:Val134Asp	PROT:P30613	PKLR	V	134	D	V134D	Pathogenic/Likely pathogenic	1	1	21	24
MUT:PKLR:Val294Met	PROT:P30613	PKLR	V	294	M	V294M	Likely pathogenic	1	1	21	2
MUT:PKLR:Val320Met	PROT:P30613	PKLR	V	320	M	V320M	Likely pathogenic	1	1	21	7
MUT:PKP2:Ala236Ser	PROT:Q99959	PKP2	A	236	S	A236S	Benign/Likely benign	0	2	77	3
MUT:PKP2:Ala264Val	PROT:Q99959	PKP2	A	264	V	A264V	Benign/Likely benign	0	8	77	3
MUT:PKP2:Ala324Gly	PROT:Q99959	PKP2	A	324	G	A324G	Likely benign	0	1	77	5
MUT:PKP2:Ala502Thr	PROT:Q99959	PKP2	A	502	T	A502T	Benign/Likely benign	0	4	77	55
MUT:PKP2:Ala780Thr	PROT:Q99959	PKP2	A	780	T	A780T	Likely benign	0	1	77	19
MUT:PKP2:Arg388Trp	PROT:Q99959	PKP2	R	388	W	R388W	Pathogenic/Likely pathogenic	1	3	77	17
MUT:PKP2:Asp26Asn	PROT:Q99959	PKP2	D	26	N	D26N	Benign/Likely benign	0	3	77	11
MUT:PKP2:Asp785Asn	PROT:Q99959	PKP2	D	785	N	D785N	Benign/Likely benign	0	3	77	24
MUT:PKP2:Cys752Arg	PROT:Q99959	PKP2	C	752	R	C752R	Pathogenic	1	3	77	5
MUT:PKP2:Gln573His	PROT:Q99959	PKP2	Q	573	H	Q573H	Likely pathogenic	1	1	77	43
MUT:PKP2:Glu58Asp	PROT:Q99959	PKP2	E	58	D	E58D	Benign/Likely benign	0	2	77	5
MUT:PKP2:Gly322Cys	PROT:Q99959	PKP2	G	322	C	G322C	Likely benign	0	5	77	7
MUT:PKP2:Gly460Ser	PROT:Q99959	PKP2	G	460	S	G460S	Likely pathogenic	1	2	77	13
MUT:PKP2:His318Pro	PROT:Q99959	PKP2	H	318	P	H318P	Likely benign	0	3	77	6
MUT:PKP2:Ile487Ser	PROT:Q99959	PKP2	I	487	S	I487S	Benign/Likely benign	0	4	77	40
MUT:PKP2:Leu366Pro	PROT:Q99959	PKP2	L	366	P	L366P	Benign	0	3	77	8
MUT:PKP2:Leu452Val	PROT:Q99959	PKP2	L	452	V	L452V	Likely benign	0	1	77	5
MUT:PKP2:Met1Leu	PROT:Q99959	PKP2	M	1	L	M1L	Pathogenic	1	1	77	9
MUT:PKP2:Met1Thr	PROT:Q99959	PKP2	M	1	T	M1T	Likely pathogenic	1	3	77	9
MUT:PKP2:Met1Val	PROT:Q99959	PKP2	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	77	9
MUT:PKP2:Ser571Phe	PROT:Q99959	PKP2	S	571	F	S571F	Pathogenic	1	1	77	45
MUT:PKP2:Ser70Ile	PROT:Q99959	PKP2	S	70	I	S70I	Benign/Likely benign	0	3	77	1
MUT:PKP2:Thr177Ile	PROT:Q99959	PKP2	T	177	I	T177I	Likely benign	0	1	77	0
MUT:PKP2:Thr338Ala	PROT:Q99959	PKP2	T	338	A	T338A	Benign/Likely benign	0	5	77	4
MUT:PKP2:Val136Met	PROT:Q99959	PKP2	V	136	M	V136M	Benign/Likely benign	0	3	77	1
MUT:PLA2G2D:Gly45Ser	PROT:Q9UNK4	PLA2G2D	G	45	S	G45S	Likely benign	0	6	1	4
MUT:PLA2G4C:Ala18Val	PROT:Q9UP65	PLA2G4C	A	18	V	A18V	Likely benign	0	1	1	319
MUT:PLA2G4C:Pro10Leu	PROT:Q9UP65	PLA2G4C	P	10	L	P10L	Likely benign	0	1	1	327
MUT:PLA2G7:Arg92His	PROT:Q13093	PLA2G7	R	92	H	R92H	Benign	0	1	1	160
MUT:PLA2G7:Ile198Thr	PROT:Q13093	PLA2G7	I	198	T	I198T	Benign	0	2	1	54
MUT:PLA2G7:Phe51Ile	PROT:Q13093	PLA2G7	F	51	I	F51I	Likely benign	0	1	1	201
MUT:PLA2G7:Val279Phe	PROT:Q13093	PLA2G7	V	279	F	V279F	Benign	0	2	1	27
MUT:PLA2G7:Val379Ala	PROT:Q13093	PLA2G7	V	379	A	V379A	Benign	0	2	1	127
MUT:PLAA:Asp100Glu	PROT:Q9Y263	PLAA	D	100	E	D100E	Likely benign	0	1	19	88
MUT:PLAA:Asp40Glu	PROT:Q9Y263	PLAA	D	40	E	D40E	Pathogenic	1	1	19	148
MUT:PLAA:Asp755Gly	PROT:Q9Y263	PLAA	D	755	G	D755G	Likely benign	0	2	19	18
MUT:PLAA:Cys277Arg	PROT:Q9Y263	PLAA	C	277	R	C277R	Pathogenic	1	1	19	38
MUT:PLAA:Glu350Val	PROT:Q9Y263	PLAA	E	350	V	E350V	Pathogenic	1	1	19	11
MUT:PLAA:Gly23Val	PROT:Q9Y263	PLAA	G	23	V	G23V	Pathogenic	1	1	19	165
MUT:PLAA:Leu752Phe	PROT:Q9Y263	PLAA	L	752	F	L752F	Pathogenic	1	1	19	21
MUT:PLAG1:Asp385Glu	PROT:Q6DJT9	PLAG1	D	385	E	D385E	Likely benign	0	1	1	328
MUT:PLAG1:Ile65Thr	PROT:Q6DJT9	PLAG1	I	65	T	I65T	Likely benign	0	1	1	8
MUT:PLAG1:Lys93Met	PROT:Q6DJT9	PLAG1	K	93	M	K93M	Likely benign	0	1	1	36
MUT:PLAG1:Val453Leu	PROT:Q6DJT9	PLAG1	V	453	L	V453L	Likely benign	0	1	1	396
MUT:PLAT:Thr287Met	PROT:P00750	PLAT	T	287	M	T287M	Likely benign	0	1	1	169
MUT:PLAUR:Gly94Glu	PROT:Q03405	PLAUR	G	94	E	G94E	Likely benign	0	8	1	160
MUT:PLCB1:Arg213Ser	PROT:Q9NQ66	PLCB1	R	213	S	R213S	Benign/Likely benign	0	2	18	143
MUT:PLCB1:Glu153Val	PROT:Q9NQ66	PLCB1	E	153	V	E153V	Benign/Likely benign	0	3	18	83
MUT:PLCB1:Gly1180Ser	PROT:Q9NQ66	PLCB1	G	1180	S	G1180S	Likely benign	0	1	18	19
MUT:PLCB1:His1128Tyr	PROT:Q9NQ66	PLCB1	H	1128	Y	H1128Y	Pathogenic	1	1	18	71
MUT:PLCB1:Lys23Glu	PROT:Q9NQ66	PLCB1	K	23	E	K23E	Benign	0	1	18	47
MUT:PLCB1:Lys939Arg	PROT:Q9NQ66	PLCB1	K	939	R	K939R	Likely benign	0	1	18	21
MUT:PLCB1:Met496Thr	PROT:Q9NQ66	PLCB1	M	496	T	M496T	Likely benign	0	1	18	13
MUT:PLCB1:Pro731Ala	PROT:Q9NQ66	PLCB1	P	731	A	P731A	Benign/Likely benign	0	1	18	4
MUT:PLCB1:Trp727Arg	PROT:Q9NQ66	PLCB1	W	727	R	W727R	Likely pathogenic	1	1	18	8
MUT:PLCB1:Tyr490Cys	PROT:Q9NQ66	PLCB1	Y	490	C	Y490C	Benign/Likely benign	0	2	18	19
MUT:PLCE1:Ala720Thr	PROT:Q9P212	PLCE1	A	720	T	A720T	Likely benign	0	1	14	68
MUT:PLCE1:Ala76Val	PROT:Q9P212	PLCE1	A	76	V	A76V	Benign/Likely benign	0	5	14	414
MUT:PLCE1:Arg1434Gln	PROT:Q9P212	PLCE1	R	1434	Q	R1434Q	Likely pathogenic	1	1	14	32
MUT:PLCE1:Arg1575Pro	PROT:Q9P212	PLCE1	R	1575	P	R1575P	Benign	0	2	14	134
MUT:PLCE1:Arg548Leu	PROT:Q9P212	PLCE1	R	548	L	R548L	Benign	0	2	14	28
MUT:PLCE1:Asn1578Ser	PROT:Q9P212	PLCE1	N	1578	S	N1578S	Benign/Likely benign	0	2	14	131
MUT:PLCE1:Asn1995Ser	PROT:Q9P212	PLCE1	N	1995	S	N1995S	Likely benign	0	1	14	275
MUT:PLCE1:Asn2120Ser	PROT:Q9P212	PLCE1	N	2120	S	N2120S	Likely benign	0	1	14	400
MUT:PLCE1:Asn37Ser	PROT:Q9P212	PLCE1	N	37	S	N37S	Likely benign	0	1	14	453
MUT:PLCE1:Asn509Ser	PROT:Q9P212	PLCE1	N	509	S	N509S	Likely benign	0	1	14	19
MUT:PLCE1:Glu410Lys	PROT:Q9P212	PLCE1	E	410	K	E410K	Likely benign	0	1	14	80
MUT:PLCE1:Gly222Arg	PROT:Q9P212	PLCE1	G	222	R	G222R	Benign	0	1	14	268
MUT:PLCE1:Gly502Ser	PROT:Q9P212	PLCE1	G	502	S	G502S	Likely benign	0	1	14	12
MUT:PLCE1:His1927Arg	PROT:Q9P212	PLCE1	H	1927	R	H1927R	Benign	0	2	14	207
MUT:PLCE1:Ile1314Val	PROT:Q9P212	PLCE1	I	1314	V	I1314V	Likely benign	0	1	14	86
MUT:PLCE1:Ile1627Leu	PROT:Q9P212	PLCE1	I	1627	L	I1627L	Likely benign	0	1	14	82
MUT:PLCE1:Ile810Val	PROT:Q9P212	PLCE1	I	810	V	I810V	Likely benign	0	2	14	22
MUT:PLCE1:Leu1233Pro	PROT:Q9P212	PLCE1	L	1233	P	L1233P	Likely pathogenic	1	1	14	137
MUT:PLCE1:Lys1841Glu	PROT:Q9P212	PLCE1	K	1841	E	K1841E	Likely pathogenic	1	1	14	121
MUT:PLCE1:Lys2173Arg	PROT:Q9P212	PLCE1	K	2173	R	K2173R	Benign/Likely benign	0	1	14	453
MUT:PLCE1:Met1012Ile	PROT:Q9P212	PLCE1	M	1012	I	M1012I	Likely benign	0	1	14	6
MUT:PLCE1:Met1073Val	PROT:Q9P212	PLCE1	M	1073	V	M1073V	Likely benign	0	1	14	23
MUT:PLCE1:Met1803Leu	PROT:Q9P212	PLCE1	M	1803	L	M1803L	Likely benign	0	1	14	83
MUT:PLCE1:Met599Val	PROT:Q9P212	PLCE1	M	599	V	M599V	Likely benign	0	1	14	23
MUT:PLCE1:Pro2288Thr	PROT:Q9P212	PLCE1	P	2288	T	P2288T	Benign/Likely benign	0	2	14	568
MUT:PLCE1:Pro371Leu	PROT:Q9P212	PLCE1	P	371	L	P371L	Likely benign	0	1	14	119
MUT:PLCE1:Ser1189Gly	PROT:Q9P212	PLCE1	S	1189	G	S1189G	Likely benign	0	1	14	93
MUT:PLCE1:Ser1484Leu	PROT:Q9P212	PLCE1	S	1484	L	S1484L	Pathogenic	1	1	14	82
MUT:PLCE1:Ser2001Leu	PROT:Q9P212	PLCE1	S	2001	L	S2001L	Likely benign	0	1	14	281
MUT:PLCE1:Ser469Thr	PROT:Q9P212	PLCE1	S	469	T	S469T	Benign/Likely benign	0	2	14	21
MUT:PLCE1:Ser964Arg	PROT:Q9P212	PLCE1	S	964	R	S964R	Likely benign	0	1	14	30
MUT:PLCE1:Thr1777Ile	PROT:Q9P212	PLCE1	T	1777	I	T1777I	Benign	0	2	14	57
MUT:PLCE1:Thr486Ile	PROT:Q9P212	PLCE1	T	486	I	T486I	Likely benign	0	1	14	4
MUT:PLCE1:Val1436Ile	PROT:Q9P212	PLCE1	V	1436	I	V1436I	Likely benign	0	1	14	34
MUT:PLCE1:Val438Ala	PROT:Q9P212	PLCE1	V	438	A	V438A	Likely benign	0	2	14	52
MUT:PLCE1:Val438Ile	PROT:Q9P212	PLCE1	V	438	I	V438I	Likely benign	0	1	14	52
MUT:PLCG1:Ser1021Phe	PROT:P19174	PLCG1	S	1021	F	S1021F	Pathogenic	1	1	37	18
MUT:PLCZ1:Arg197His	PROT:Q86YW0	PLCZ1	R	197	H	R197H	Likely pathogenic	1	1	1	385
MUT:PLCZ1:Asn425Ser	PROT:Q86YW0	PLCZ1	N	425	S	N425S	Pathogenic	1	1	1	157
MUT:PLCZ1:Gly453Asp	PROT:Q86YW0	PLCZ1	G	453	D	G453D	Pathogenic	1	1	1	129
MUT:PLCZ1:Ile120Met	PROT:Q86YW0	PLCZ1	I	120	M	I120M	Benign	0	1	1	462
MUT:PLCZ1:Ile489Phe	PROT:Q86YW0	PLCZ1	I	489	F	I489F	Likely pathogenic	1	2	1	93
MUT:PLCZ1:Leu246Phe	PROT:Q86YW0	PLCZ1	L	246	F	L246F	Pathogenic	1	1	1	336
MUT:PLCZ1:Ser350Pro	PROT:Q86YW0	PLCZ1	S	350	P	S350P	Pathogenic	1	1	1	232
MUT:PLD1:Ala622Ser	PROT:Q13393	PLD1	A	622	S	A622S	Benign	0	1	21	7
MUT:PLD1:Ala684Val	PROT:Q13393	PLD1	A	684	V	A684V	Likely benign	0	1	21	4
MUT:PLD1:Ala764Thr	PROT:Q13393	PLD1	A	764	T	A764T	Likely benign	0	1	21	32
MUT:PLD1:Arg398Cys	PROT:Q13393	PLD1	R	398	C	R398C	Benign	0	1	21	101
MUT:PLD1:Arg407Gln	PROT:Q13393	PLD1	R	407	Q	R407Q	Likely benign	0	1	21	92
MUT:PLD1:Arg675Trp	PROT:Q13393	PLD1	R	675	W	R675W	Likely pathogenic	1	1	21	13
MUT:PLD1:Glu290Gln	PROT:Q13393	PLD1	E	290	Q	E290Q	Likely benign	0	1	21	4
MUT:PLD1:Gly859Glu	PROT:Q13393	PLD1	G	859	E	G859E	Likely benign	0	1	21	63
MUT:PLD1:His442Pro	PROT:Q13393	PLD1	H	442	P	H442P	Pathogenic	1	1	21	57
MUT:PLD1:His608Arg	PROT:Q13393	PLD1	H	608	R	H608R	Likely benign	0	1	21	2
MUT:PLD1:Ile668Phe	PROT:Q13393	PLD1	I	668	F	I668F	Benign	0	1	21	6
MUT:PLD1:Ile797Val	PROT:Q13393	PLD1	I	797	V	I797V	Likely benign	0	1	21	1
MUT:PLD1:Pro49Ala	PROT:Q13393	PLD1	P	49	A	P49A	Benign	0	1	21	1
MUT:PLD1:Thr673Met	PROT:Q13393	PLD1	T	673	M	T673M	Likely benign	0	1	21	11
MUT:PLD1:Val1024Ile	PROT:Q13393	PLD1	V	1024	I	V1024I	Benign	0	1	21	3
MUT:PLD1:Val468Asp	PROT:Q13393	PLD1	V	468	D	V468D	Likely pathogenic	1	1	21	31
MUT:PLD1:Val792Leu	PROT:Q13393	PLD1	V	792	L	V792L	Benign	0	1	21	4
MUT:PLD1:Val820Met	PROT:Q13393	PLD1	V	820	M	V820M	Benign	0	1	21	24
MUT:PLEK2:Ala23Val	PROT:Q9NYT0	PLEK2	A	23	V	A23V	Likely benign	0	1	7	22
MUT:PLEKHA3:Glu172Gly	PROT:Q9HB20	PLEKHA3	E	172	G	E172G	Pathogenic	1	1	9	29
MUT:PLEKHA5:Asp4Asn	PROT:Q9HAU0	PLEKHA5	D	4	N	D4N	Likely benign	0	1	35	51
MUT:PLEKHA5:His965Tyr	PROT:Q9HAU0	PLEKHA5	H	965	Y	H965Y	Benign	0	1	35	26
MUT:PLEKHA5:Pro948Ser	PROT:Q9HAU0	PLEKHA5	P	948	S	P948S	Likely benign	0	1	35	9
MUT:PLEKHA5:Ser378Asn	PROT:Q9HAU0	PLEKHA5	S	378	N	S378N	Benign	0	1	35	4
MUT:PLEKHA5:Ser388Gly	PROT:Q9HAU0	PLEKHA5	S	388	G	S388G	Benign	0	1	35	6
MUT:PLEKHA5:Tyr596Cys	PROT:Q9HAU0	PLEKHA5	Y	596	C	Y596C	Likely pathogenic	1	1	35	11
MUT:PLEKHA5:Val304Met	PROT:Q9HAU0	PLEKHA5	V	304	M	V304M	Likely benign	0	1	35	49
MUT:PLEKHA5:Val387Ala	PROT:Q9HAU0	PLEKHA5	V	387	A	V387A	Benign	0	1	35	5
MUT:PLEKHA7:Arg315Trp	PROT:Q6IQ23	PLEKHA7	R	315	W	R315W	Benign	0	1	33	48
MUT:PLEKHA7:Arg513Trp	PROT:Q6IQ23	PLEKHA7	R	513	W	R513W	Likely pathogenic	1	1	33	17
MUT:PLEKHA7:Arg874Gln	PROT:Q6IQ23	PLEKHA7	R	874	Q	R874Q	Likely benign	0	1	33	1
MUT:PLEKHA7:Asn776Asp	PROT:Q6IQ23	PLEKHA7	N	776	D	N776D	Benign	0	1	33	25
MUT:PLEKHA7:Asp662Gly	PROT:Q6IQ23	PLEKHA7	D	662	G	D662G	Likely pathogenic	1	1	33	6
MUT:PLEKHA7:Gly544Asp	PROT:Q6IQ23	PLEKHA7	G	544	D	G544D	Likely pathogenic	1	1	33	8
MUT:PLEKHA7:Ile209Met	PROT:Q6IQ23	PLEKHA7	I	209	M	I209M	Benign	0	1	33	34
MUT:PLEKHA7:Leu241Ile	PROT:Q6IQ23	PLEKHA7	L	241	I	L241I	Benign	0	1	33	2
MUT:PLEKHA7:Ser108Leu	PROT:Q6IQ23	PLEKHA7	S	108	L	S108L	Likely benign	0	1	33	13
MUT:PLEKHA7:Ser563Thr	PROT:Q6IQ23	PLEKHA7	S	563	T	S563T	Likely benign	0	1	33	2
MUT:PLEKHG2:Arg844Pro	PROT:Q9H7P9	PLEKHG2	R	844	P	R844P	Likely benign	0	1	24	67
MUT:PLEKHG2:Glu734Lys	PROT:Q9H7P9	PLEKHG2	E	734	K	E734K	Benign	0	1	24	8
MUT:PLEKHG2:Gly1297Arg	PROT:Q9H7P9	PLEKHG2	G	1297	R	G1297R	Likely benign	0	1	24	8
MUT:PLEKHG2:Gly135Ser	PROT:Q9H7P9	PLEKHG2	G	135	S	G135S	Benign	0	1	24	34
MUT:PLEKHG2:Gly332Val	PROT:Q9H7P9	PLEKHG2	G	332	V	G332V	Benign	0	3	24	54
MUT:PLEKHG2:Leu1358Ser	PROT:Q9H7P9	PLEKHG2	L	1358	S	L1358S	Benign	0	1	24	24
MUT:PLEKHG2:Met43Thr	PROT:Q9H7P9	PLEKHG2	M	43	T	M43T	Likely benign	0	1	24	58
MUT:PLEKHG2:Phe172Cys	PROT:Q9H7P9	PLEKHG2	F	172	C	F172C	Benign	0	2	24	71
MUT:PLEKHG2:Phe410Leu	PROT:Q9H7P9	PLEKHG2	F	410	L	F410L	Benign	0	1	24	16
MUT:PLEKHG2:Pro453Arg	PROT:Q9H7P9	PLEKHG2	P	453	R	P453R	Benign	0	1	24	3
MUT:PLEKHG2:Ser890Phe	PROT:Q9H7P9	PLEKHG2	S	890	F	S890F	Benign	0	1	24	21
MUT:PLEKHG6:Arg609Cys	PROT:Q3KR16	PLEKHG6	R	609	C	R609C	Likely benign	0	1	8	11
MUT:PLEKHH1:Arg732Gln	PROT:Q9ULM0	PLEKHH1	R	732	Q	R732Q	Likely benign	0	9	5	348
MUT:PLEKHM1:Arg714Cys	PROT:Q9Y4G2	PLEKHM1	R	714	C	R714C	Pathogenic	1	1	11	6
MUT:PLG:Ala494Val	PROT:P00747	PLG	A	494	V	A494V	Benign	0	4	7	17
MUT:PLG:Arg235His	PROT:P00747	PLG	R	235	H	R235H	Pathogenic	1	1	7	46
MUT:PLG:Asn286Asp	PROT:P00747	PLG	N	286	D	N286D	Likely benign	0	1	7	97
MUT:PLG:Asp472Asn	PROT:P00747	PLG	D	472	N	D472N	Benign	0	1	7	5
MUT:PLG:Asp665Val	PROT:P00747	PLG	D	665	V	D665V	Likely pathogenic	1	1	7	23
MUT:PLG:Cys296Gly	PROT:P00747	PLG	C	296	G	C296G	Pathogenic	1	1	7	107
MUT:PLG:Lys231Met	PROT:P00747	PLG	K	231	M	K231M	Likely benign	0	1	7	42
MUT:PLG:Lys330Glu	PROT:P00747	PLG	K	330	E	K330E	Pathogenic	1	3	7	141
MUT:PLG:Lys38Glu	PROT:P00747	PLG	K	38	E	K38E	Pathogenic/Likely pathogenic	1	4	7	3
MUT:PLG:Ser591Pro	PROT:P00747	PLG	S	591	P	S591P	Pathogenic	1	1	7	97
MUT:PLG:Val374Phe	PROT:P00747	PLG	V	374	F	V374F	Pathogenic	1	1	7	103
MUT:PLG:Val728Glu	PROT:P00747	PLG	V	728	E	V728E	Pathogenic	1	2	7	40
MUT:PLIN1:Ala271Val	PROT:O60240	PLIN1	A	271	V	A271V	Benign	0	1	11	60
MUT:PLIN1:Arg231Leu	PROT:O60240	PLIN1	R	231	L	R231L	Benign	0	2	11	20
MUT:PLIN1:Arg23Trp	PROT:O60240	PLIN1	R	23	W	R23W	Likely benign	0	1	11	15
MUT:PLIN1:Arg280Trp	PROT:O60240	PLIN1	R	280	W	R280W	Likely benign	0	1	11	69
MUT:PLIN1:Cys36Phe	PROT:O60240	PLIN1	C	36	F	C36F	Benign/Likely benign	0	1	11	17
MUT:PLIN1:Pro194Ala	PROT:O60240	PLIN1	P	194	A	P194A	Benign	0	1	11	11
MUT:PLIN1:Ser348Leu	PROT:O60240	PLIN1	S	348	L	S348L	Benign	0	2	11	26
MUT:PLIN1:Thr82Ile	PROT:O60240	PLIN1	T	82	I	T82I	Benign/Likely benign	0	2	11	29
MUT:PLIN1:Val156Leu	PROT:O60240	PLIN1	V	156	L	V156L	Benign	0	1	11	26
MUT:PLIN1:Val272Met	PROT:O60240	PLIN1	V	272	M	V272M	Benign/Likely benign	0	1	11	61
MUT:PLN:Arg9Cys	PROT:P26678	PLN	R	9	C	R9C	Pathogenic	1	3	1	7
MUT:PLN:Arg9Leu	PROT:P26678	PLN	R	9	L	R9L	Likely pathogenic	1	1	1	7
MUT:PLN:Met1Arg	PROT:P26678	PLN	M	1	R	M1R	Pathogenic	1	1	1	15
MUT:PLOD1:Ala120Ser	PROT:Q02809	PLOD1	A	120	S	A120S	Benign/Likely benign	0	2	11	34
MUT:PLOD1:Ala228Val	PROT:Q02809	PLOD1	A	228	V	A228V	Likely benign	0	2	11	63
MUT:PLOD1:Ala667Thr	PROT:Q02809	PLOD1	A	667	T	A667T	Likely pathogenic	1	2	11	8
MUT:PLOD1:Ala84Thr	PROT:Q02809	PLOD1	A	84	T	A84T	Benign/Likely benign	0	3	11	16
MUT:PLOD1:Ala99Thr	PROT:Q02809	PLOD1	A	99	T	A99T	Benign/Likely benign	0	3	11	31
MUT:PLOD1:Arg499Trp	PROT:Q02809	PLOD1	R	499	W	R499W	Benign/Likely benign	0	3	11	42
MUT:PLOD1:Asn391Asp	PROT:Q02809	PLOD1	N	391	D	N391D	Likely benign	0	1	11	10
MUT:PLOD1:Asp179Tyr	PROT:Q02809	PLOD1	D	179	Y	D179Y	Likely benign	0	2	11	14
MUT:PLOD1:Asp93Asn	PROT:Q02809	PLOD1	D	93	N	D93N	Likely benign	0	1	11	25
MUT:PLOD1:Glu170Val	PROT:Q02809	PLOD1	E	170	V	E170V	Benign/Likely benign	0	3	11	5
MUT:PLOD1:Gly678Arg	PROT:Q02809	PLOD1	G	678	R	G678R	Pathogenic/Likely pathogenic	1	1	11	3
MUT:PLOD1:Ile454Val	PROT:Q02809	PLOD1	I	454	V	I454V	Likely benign	0	1	11	20
MUT:PLOD1:Ile689Val	PROT:Q02809	PLOD1	I	689	V	I689V	Likely benign	0	1	11	14
MUT:PLOD1:Leu85Pro	PROT:Q02809	PLOD1	L	85	P	L85P	Likely pathogenic	1	1	11	17
MUT:PLOD1:Lys185Asn	PROT:Q02809	PLOD1	K	185	N	K185N	Benign/Likely benign	0	3	11	20
MUT:PLOD1:Met1Ile	PROT:Q02809	PLOD1	M	1	I	M1I	Pathogenic	1	1	11	67
MUT:PLOD1:Thr268Ala	PROT:Q02809	PLOD1	T	268	A	T268A	Benign/Likely benign	0	2	11	76
MUT:PLOD1:Trp612Cys	PROT:Q02809	PLOD1	W	612	C	W612C	Pathogenic	1	1	11	7
MUT:PLOD1:Val381Met	PROT:Q02809	PLOD1	V	381	M	V381M	Benign/Likely benign	0	3	11	20
MUT:PLOD2:Arg178Cys	PROT:O00469	PLOD2	R	178	C	R178C	Benign	0	2	28	25
MUT:PLOD2:Arg619His	PROT:O00469	PLOD2	R	619	H	R619H	Likely pathogenic	1	1	28	11
MUT:PLOD2:Asp585Val	PROT:O00469	PLOD2	D	585	V	D585V	Likely pathogenic	1	1	28	3
MUT:PLOD2:Cys4Ser	PROT:O00469	PLOD2	C	4	S	C4S	Benign/Likely benign	0	1	28	85
MUT:PLOD2:Gly622Val	PROT:O00469	PLOD2	G	622	V	G622V	Pathogenic	1	1	28	12
MUT:PLOD2:His295Tyr	PROT:O00469	PLOD2	H	295	Y	H295Y	Likely benign	0	1	28	25
MUT:PLOD2:Ile218Val	PROT:O00469	PLOD2	I	218	V	I218V	Benign/Likely benign	0	3	28	14
MUT:PLOD2:Thr629Ile	PROT:O00469	PLOD2	T	629	I	T629I	Pathogenic	1	1	28	5
MUT:PLOD2:Val269Ile	PROT:O00469	PLOD2	V	269	I	V269I	Benign/Likely benign	0	3	28	28
MUT:PLOD2:Val391Leu	PROT:O00469	PLOD2	V	391	L	V391L	Benign/Likely benign	0	3	28	1
MUT:PLOD3:Arg162Cys	PROT:O60568	PLOD3	R	162	C	R162C	Likely benign	0	1	7	24
MUT:PLOD3:Arg468Gly	PROT:O60568	PLOD3	R	468	G	R468G	Benign	0	1	7	27
MUT:PLOD3:Asp382His	PROT:O60568	PLOD3	D	382	H	D382H	Benign/Likely benign	0	1	7	15
MUT:PLOD3:Gln284Arg	PROT:O60568	PLOD3	Q	284	R	Q284R	Likely benign	0	1	7	4
MUT:PLOD3:Gln509Arg	PROT:O60568	PLOD3	Q	509	R	Q509R	Likely benign	0	1	7	9
MUT:PLOD3:Glu560Gln	PROT:O60568	PLOD3	E	560	Q	E560Q	Benign/Likely benign	0	2	7	60
MUT:PLOD3:Gly70Asp	PROT:O60568	PLOD3	G	70	D	G70D	Likely pathogenic	1	1	7	58
MUT:PLOD3:Ile179Val	PROT:O60568	PLOD3	I	179	V	I179V	Benign/Likely benign	0	1	7	7
MUT:PLOD3:Ile250Val	PROT:O60568	PLOD3	I	250	V	I250V	Likely benign	0	1	7	38
MUT:PLOD3:Met474Thr	PROT:O60568	PLOD3	M	474	T	M474T	Likely benign	0	1	7	21
MUT:PLOD3:Met634Val	PROT:O60568	PLOD3	M	634	V	M634V	Likely benign	0	1	7	11
MUT:PLOD3:Pro270Leu	PROT:O60568	PLOD3	P	270	L	P270L	Likely pathogenic	1	1	7	18
MUT:PLOD3:Thr635Ile	PROT:O60568	PLOD3	T	635	I	T635I	Likely benign	0	1	7	10
MUT:PLS3:Ala206Val	PROT:P13797	PLS3	A	206	V	A206V	Likely pathogenic	1	2	24	1
MUT:PLS3:Arg256Gln	PROT:P13797	PLS3	R	256	Q	R256Q	Likely benign	0	1	24	10
MUT:PLS3:Glu270Lys	PROT:P13797	PLS3	E	270	K	E270K	Likely pathogenic	1	1	24	2
MUT:PLS3:Ile309Val	PROT:P13797	PLS3	I	309	V	I309V	Benign/Likely benign	0	9	24	12
MUT:PLS3:Trp499Cys	PROT:P13797	PLS3	W	499	C	W499C	Likely pathogenic	1	1	24	7
MUT:PLVAP:Ala193Val	PROT:Q9BX97	PLVAP	A	193	V	A193V	Likely benign	0	1	3	134
MUT:PLVAP:Ala292Thr	PROT:Q9BX97	PLVAP	A	292	T	A292T	Likely benign	0	1	3	35
MUT:PLVAP:Ala311Val	PROT:Q9BX97	PLVAP	A	311	V	A311V	Likely benign	0	1	3	16
MUT:PLVAP:Ala347Val	PROT:Q9BX97	PLVAP	A	347	V	A347V	Likely benign	0	1	3	20
MUT:PLVAP:Arg316Trp	PROT:Q9BX97	PLVAP	R	316	W	R316W	Likely benign	0	1	3	11
MUT:PLVAP:Gln219Arg	PROT:Q9BX97	PLVAP	Q	219	R	Q219R	Likely benign	0	1	3	108
MUT:PLVAP:Gln411Pro	PROT:Q9BX97	PLVAP	Q	411	P	Q411P	Likely benign	0	1	3	84
MUT:PLVAP:His208Gln	PROT:Q9BX97	PLVAP	H	208	Q	H208Q	Likely benign	0	1	3	119
MUT:PLVAP:Ile178Val	PROT:Q9BX97	PLVAP	I	178	V	I178V	Likely benign	0	1	3	149
MUT:PLVAP:Leu34Pro	PROT:Q9BX97	PLVAP	L	34	P	L34P	Pathogenic	1	1	3	23
MUT:PLVAP:Lys391Arg	PROT:Q9BX97	PLVAP	K	391	R	K391R	Likely benign	0	1	3	64
MUT:PLVAP:Met235Thr	PROT:Q9BX97	PLVAP	M	235	T	M235T	Likely benign	0	1	3	92
MUT:PLVAP:Met397Ile	PROT:Q9BX97	PLVAP	M	397	I	M397I	Likely benign	0	1	3	70
MUT:PLVAP:Pro396Leu	PROT:Q9BX97	PLVAP	P	396	L	P396L	Benign/Likely benign	0	1	3	69
MUT:PLXNB3:Arg102His	PROT:Q9ULL4	PLXNB3	R	102	H	R102H	Likely benign	0	1	4	141
MUT:PLXNB3:Arg1831Cys	PROT:Q9ULL4	PLXNB3	R	1831	C	R1831C	Likely benign	0	1	4	242
MUT:PLXNB3:Thr1335Ser	PROT:Q9ULL4	PLXNB3	T	1335	S	T1335S	Likely benign	0	1	4	2
MUT:PLXNB3:Val675Met	PROT:Q9ULL4	PLXNB3	V	675	M	V675M	Likely benign	0	1	4	432
MUT:PLXNC1:Cys1217Arg	PROT:O60486	PLXNC1	C	1217	R	C1217R	Likely benign	0	1	2	133
MUT:PLXND1:Ala297Thr	PROT:Q9Y4D7	PLXND1	A	297	T	A297T	Likely benign	0	1	11	1027
MUT:PLXND1:Ala850Thr	PROT:Q9Y4D7	PLXND1	A	850	T	A850T	Benign	0	1	11	474
MUT:PLXND1:Arg1169Cys	PROT:Q9Y4D7	PLXND1	R	1169	C	R1169C	Benign	0	1	11	155
MUT:PLXND1:Arg1214Gln	PROT:Q9Y4D7	PLXND1	R	1214	Q	R1214Q	Benign	0	3	11	110
MUT:PLXND1:Arg1299Cys	PROT:Q9Y4D7	PLXND1	R	1299	C	R1299C	Pathogenic	1	1	11	25
MUT:PLXND1:Arg599Cys	PROT:Q9Y4D7	PLXND1	R	599	C	R599C	Likely benign	0	1	11	725
MUT:PLXND1:Arg973Gln	PROT:Q9Y4D7	PLXND1	R	973	Q	R973Q	Benign	0	1	11	351
MUT:PLXND1:Asp526Glu	PROT:Q9Y4D7	PLXND1	D	526	E	D526E	Likely benign	0	1	11	798
MUT:PLXND1:Gln504Arg	PROT:Q9Y4D7	PLXND1	Q	504	R	Q504R	Benign	0	1	11	820
MUT:PLXND1:Gln721Arg	PROT:Q9Y4D7	PLXND1	Q	721	R	Q721R	Benign	0	1	11	603
MUT:PLXND1:Glu501Lys	PROT:Q9Y4D7	PLXND1	E	501	K	E501K	Benign	0	1	11	823
MUT:PLXND1:Gly531Ser	PROT:Q9Y4D7	PLXND1	G	531	S	G531S	Benign	0	1	11	793
MUT:PLXND1:Gly531Val	PROT:Q9Y4D7	PLXND1	G	531	V	G531V	Benign	0	1	11	793
MUT:PLXND1:Ile1775Phe	PROT:Q9Y4D7	PLXND1	I	1775	F	I1775F	Pathogenic	1	1	11	25
MUT:PLXND1:Ile911Met	PROT:Q9Y4D7	PLXND1	I	911	M	I911M	Pathogenic	1	1	11	413
MUT:PLXND1:Leu1412Val	PROT:Q9Y4D7	PLXND1	L	1412	V	L1412V	Benign	0	1	11	45
MUT:PLXND1:Leu1678Met	PROT:Q9Y4D7	PLXND1	L	1678	M	L1678M	Benign	0	1	11	33
MUT:PLXND1:Met870Val	PROT:Q9Y4D7	PLXND1	M	870	V	M870V	Benign	0	1	11	454
MUT:PLXND1:Pro617Ser	PROT:Q9Y4D7	PLXND1	P	617	S	P617S	Benign	0	14	11	707
MUT:PLXND1:Pro759Ser	PROT:Q9Y4D7	PLXND1	P	759	S	P759S	Benign/Likely benign	0	1	11	565
MUT:PLXND1:Ser218Cys	PROT:Q9Y4D7	PLXND1	S	218	C	S218C	Pathogenic	1	1	11	1106
MUT:PLXND1:Thr755Ala	PROT:Q9Y4D7	PLXND1	T	755	A	T755A	Benign/Likely benign	0	2	11	569
MUT:PLXND1:Val1150Leu	PROT:Q9Y4D7	PLXND1	V	1150	L	V1150L	Likely benign	0	1	11	174
MUT:PLXND1:Val505Leu	PROT:Q9Y4D7	PLXND1	V	505	L	V505L	Benign	0	1	11	819
MUT:PMP2:Asn60Ile	PROT:P02689	PMP2	N	60	I	N60I	Benign	0	1	5	1
MUT:PMP2:Gly122Asp	PROT:P02689	PMP2	G	122	D	G122D	Benign	0	1	5	4
MUT:PMP2:Gly34Arg	PROT:P02689	PMP2	G	34	R	G34R	Likely benign	0	1	5	27
MUT:PMP2:Ile43Asn	PROT:P02689	PMP2	I	43	N	I43N	Pathogenic/Likely pathogenic	1	2	5	18
MUT:PMP2:Ile43Ser	PROT:P02689	PMP2	I	43	S	I43S	Likely pathogenic	1	1	5	18
MUT:PMP2:Ile50Thr	PROT:P02689	PMP2	I	50	T	I50T	Benign	0	1	5	11
MUT:PMP2:Ile52Thr	PROT:P02689	PMP2	I	52	T	I52T	Pathogenic/Likely pathogenic	1	1	5	9
MUT:PMP2:Ser56Ile	PROT:P02689	PMP2	S	56	I	S56I	Likely pathogenic	1	1	5	5
MUT:PMP2:Thr51Pro	PROT:P02689	PMP2	T	51	P	T51P	Pathogenic	1	1	5	10
MUT:PMPCA:Ala377Thr	PROT:Q10713	PMPCA	A	377	T	A377T	Pathogenic	1	1	14	78
MUT:PMPCA:Ala7Glu	PROT:Q10713	PMPCA	A	7	E	A7E	Benign	0	1	14	46
MUT:PMPCA:Arg185Gln	PROT:Q10713	PMPCA	R	185	Q	R185Q	Pathogenic	1	1	14	34
MUT:PMPCA:Arg22Trp	PROT:Q10713	PMPCA	R	22	W	R22W	Pathogenic	1	1	14	31
MUT:PMPCA:Arg457His	PROT:Q10713	PMPCA	R	457	H	R457H	Likely benign	0	1	14	16
MUT:PMPCA:Gly515Arg	PROT:Q10713	PMPCA	G	515	R	G515R	Pathogenic	1	1	14	2
MUT:PMPCA:Ser96Leu	PROT:Q10713	PMPCA	S	96	L	S96L	Pathogenic	1	1	14	7
MUT:PMPCA:Val230Ile	PROT:Q10713	PMPCA	V	230	I	V230I	Likely benign	0	1	14	69
MUT:PMS1:Ala96Gly	PROT:P54277	PMS1	A	96	G	A96G	Likely pathogenic	1	1	10	34
MUT:PMS1:Arg202Lys	PROT:P54277	PMS1	R	202	K	R202K	Likely benign	0	1	10	68
MUT:PMS1:Asn382Thr	PROT:P54277	PMS1	N	382	T	N382T	Benign	0	1	10	4
MUT:PMS1:Gln226Pro	PROT:P54277	PMS1	Q	226	P	Q226P	Benign	0	1	10	44
MUT:PMS1:Glu537Lys	PROT:P54277	PMS1	E	537	K	E537K	Likely benign	0	1	10	15
MUT:PMS1:Glu780Lys	PROT:P54277	PMS1	E	780	K	E780K	Benign	0	1	10	107
MUT:PMS1:Gly501Arg	PROT:P54277	PMS1	G	501	R	G501R	Benign	0	1	10	21
MUT:PMS1:Ile535Val	PROT:P54277	PMS1	I	535	V	I535V	Benign	0	1	10	13
MUT:PMS1:Lys455Glu	PROT:P54277	PMS1	K	455	E	K455E	Likely benign	0	1	10	67
MUT:PMS1:Lys548Arg	PROT:P54277	PMS1	K	548	R	K548R	Benign/Likely benign	0	1	10	26
MUT:PMS1:Met394Thr	PROT:P54277	PMS1	M	394	T	M394T	Benign	0	1	10	16
MUT:PMS1:Tyr927Cys	PROT:P54277	PMS1	Y	927	C	Y927C	Likely pathogenic	1	1	10	22
MUT:PMS1:Val744Ile	PROT:P54277	PMS1	V	744	I	V744I	Benign	0	1	10	71
MUT:PNPLA2:Ala495Thr	PROT:Q96AD5	PNPLA2	A	495	T	A495T	Likely benign	0	1	13	5
MUT:PNPLA2:Arg221Pro	PROT:Q96AD5	PNPLA2	R	221	P	R221P	Pathogenic	1	1	13	3
MUT:PNPLA2:Asn252Lys	PROT:Q96AD5	PNPLA2	N	252	K	N252K	Benign/Likely benign	0	1	13	28
MUT:PNPLA2:Asp274Glu	PROT:Q96AD5	PNPLA2	D	274	E	D274E	Likely benign	0	1	13	50
MUT:PNPLA2:Gln250Pro	PROT:Q96AD5	PNPLA2	Q	250	P	Q250P	Pathogenic	1	1	13	26
MUT:PNPLA2:Gly82Asp	PROT:Q96AD5	PNPLA2	G	82	D	G82D	Pathogenic	1	1	13	8
MUT:PNPLA2:Leu481Pro	PROT:Q96AD5	PNPLA2	L	481	P	L481P	Benign	0	1	13	5
MUT:PNPLA2:Pro195Leu	PROT:Q96AD5	PNPLA2	P	195	L	P195L	Pathogenic	1	1	13	29
MUT:PNPLA2:Pro265Ser	PROT:Q96AD5	PNPLA2	P	265	S	P265S	Benign	0	1	13	41
MUT:PNPLA2:Pro477Arg	PROT:Q96AD5	PNPLA2	P	477	R	P477R	Benign/Likely benign	0	1	13	1
MUT:PNPLA2:Ser11Leu	PROT:Q96AD5	PNPLA2	S	11	L	S11L	Likely pathogenic	1	2	13	63
MUT:PNPLA2:Ser288Trp	PROT:Q96AD5	PNPLA2	S	288	W	S288W	Benign/Likely benign	0	1	13	64
MUT:PNPLA2:Ser489Ile	PROT:Q96AD5	PNPLA2	S	489	I	S489I	Benign/Likely benign	0	1	13	1
MUT:PNPLA3:Cys99Gly	PROT:Q9NST1	PNPLA3	C	99	G	C99G	Benign	0	1	2	101
MUT:PNPLA3:Glu288Lys	PROT:Q9NST1	PNPLA3	E	288	K	E288K	Likely benign	0	1	2	77
MUT:PNPLA3:Glu331Gly	PROT:Q9NST1	PNPLA3	E	331	G	E331G	Likely benign	0	1	2	120
MUT:PNPLA3:Gly115Cys	PROT:Q9NST1	PNPLA3	G	115	C	G115C	Benign	0	1	2	85
MUT:PNPLA3:Ser453Arg	PROT:Q9NST1	PNPLA3	S	453	R	S453R	Benign	0	1	2	242
MUT:PNPLA3:Ser453Ile	PROT:Q9NST1	PNPLA3	S	453	I	S453I	Likely benign	0	1	2	242
MUT:PNPLA3:Tyr220Cys	PROT:Q9NST1	PNPLA3	Y	220	C	Y220C	Likely benign	0	1	2	9
MUT:PNPO:Arg116Gln	PROT:Q9NVS9	PNPO	R	116	Q	R116Q	Benign/Likely benign	0	1	6	48
MUT:PNPO:Arg138Cys	PROT:Q9NVS9	PNPO	R	138	C	R138C	Pathogenic/Likely pathogenic	1	1	6	26
MUT:PNPO:Arg141Cys	PROT:Q9NVS9	PNPO	R	141	C	R141C	Pathogenic/Likely pathogenic	1	1	6	23
MUT:PNPO:Arg161Cys	PROT:Q9NVS9	PNPO	R	161	C	R161C	Pathogenic/Likely pathogenic	1	1	6	3
MUT:PNPO:Arg225Cys	PROT:Q9NVS9	PNPO	R	225	C	R225C	Pathogenic/Likely pathogenic	1	2	6	13
MUT:PNPO:Arg225His	PROT:Q9NVS9	PNPO	R	225	H	R225H	Pathogenic	1	2	6	13
MUT:PNPO:Arg225Leu	PROT:Q9NVS9	PNPO	R	225	L	R225L	Pathogenic	1	1	6	13
MUT:PNPO:Arg229Gln	PROT:Q9NVS9	PNPO	R	229	Q	R229Q	Pathogenic/Likely pathogenic	1	2	6	9
MUT:PNPO:Arg229Trp	PROT:Q9NVS9	PNPO	R	229	W	R229W	Pathogenic/Likely pathogenic	1	1	6	9
MUT:PNPO:Arg95Cys	PROT:Q9NVS9	PNPO	R	95	C	R95C	Pathogenic/Likely pathogenic	1	2	6	55
MUT:PNPO:Arg95His	PROT:Q9NVS9	PNPO	R	95	H	R95H	Pathogenic	1	1	6	55
MUT:PNPO:Asp33Val	PROT:Q9NVS9	PNPO	D	33	V	D33V	Pathogenic	1	1	6	7
MUT:PNPO:Gly118Arg	PROT:Q9NVS9	PNPO	G	118	R	G118R	Likely pathogenic	1	1	6	46
MUT:PNPO:Pro213Ser	PROT:Q9NVS9	PNPO	P	213	S	P213S	Likely pathogenic	1	1	6	25
MUT:POC1A:Arg217Trp	PROT:Q8NBT0	POC1A	R	217	W	R217W	Pathogenic/Likely pathogenic	1	1	6	43
MUT:POC1A:His307Tyr	PROT:Q8NBT0	POC1A	H	307	Y	H307Y	Likely benign	0	1	6	85
MUT:POC1A:Leu171Pro	PROT:Q8NBT0	POC1A	L	171	P	L171P	Pathogenic	1	1	6	1
MUT:POC1A:Met1Val	PROT:Q8NBT0	POC1A	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	6	60
MUT:POC1A:Ser240Leu	PROT:Q8NBT0	POC1A	S	240	L	S240L	Pathogenic	1	1	6	66
MUT:POC1A:Val22Phe	PROT:Q8NBT0	POC1A	V	22	F	V22F	Likely pathogenic	1	1	6	39
MUT:POC1A:Val64Ile	PROT:Q8NBT0	POC1A	V	64	I	V64I	Likely benign	0	1	6	3
MUT:PODXL:Asp433Glu	PROT:O00592	PODXL	D	433	E	D433E	Likely benign	0	1	10	2
MUT:PODXL:Glu121Lys	PROT:O00592	PODXL	E	121	K	E121K	Likely benign	0	1	10	1
MUT:PODXL:Glu426Lys	PROT:O00592	PODXL	E	426	K	E426K	Likely benign	0	1	10	4
MUT:PODXL:Gly396Ser	PROT:O00592	PODXL	G	396	S	G396S	Likely benign	0	2	10	26
MUT:PODXL:Thr131Ala	PROT:O00592	PODXL	T	131	A	T131A	Likely benign	0	1	10	9
MUT:PODXL:Thr303Met	PROT:O00592	PODXL	T	303	M	T303M	Likely benign	0	1	10	4
MUT:PODXL:Thr330Ile	PROT:O00592	PODXL	T	330	I	T330I	Likely benign	0	1	10	31
MUT:PODXL:Val358Ile	PROT:O00592	PODXL	V	358	I	V358I	Benign	0	1	10	59
MUT:PODXL:Val540Ile	PROT:O00592	PODXL	V	540	I	V540I	Likely benign	0	1	10	3
MUT:POF1B:Cys239Ser	PROT:Q8WVV4	POF1B	C	239	S	C239S	Benign	0	1	2	94
MUT:POF1B:Gln214Arg	PROT:Q8WVV4	POF1B	Q	214	R	Q214R	Benign	0	1	2	119
MUT:POF1B:Gln38Pro	PROT:Q8WVV4	POF1B	Q	38	P	Q38P	Benign/Likely benign	0	2	2	295
MUT:POF1B:Gln434Lys	PROT:Q8WVV4	POF1B	Q	434	K	Q434K	Likely benign	0	1	2	10
MUT:POF1B:Met349Leu	PROT:Q8WVV4	POF1B	M	349	L	M349L	Benign	0	2	2	16
MUT:POF1B:Pro207Ser	PROT:Q8WVV4	POF1B	P	207	S	P207S	Benign	0	1	2	126
MUT:POFUT1:Arg122Gln	PROT:Q9H488	POFUT1	R	122	Q	R122Q	Likely benign	0	1	2	30
MUT:POFUT1:Asp348Asn	PROT:Q9H488	POFUT1	D	348	N	D348N	Benign	0	2	2	102
MUT:POFUT1:Glu313Lys	PROT:Q9H488	POFUT1	E	313	K	E313K	Benign	0	2	2	67
MUT:POFUT1:Leu322Phe	PROT:Q9H488	POFUT1	L	322	F	L322F	Benign	0	1	2	76
MUT:POFUT1:Met24Leu	PROT:Q9H488	POFUT1	M	24	L	M24L	Likely benign	0	1	2	68
MUT:POFUT1:Met251Val	PROT:Q9H488	POFUT1	M	251	V	M251V	Benign/Likely benign	0	2	2	5
MUT:POGLUT1:Arg98Trp	PROT:Q8NBL1	POGLUT1	R	98	W	R98W	Likely pathogenic	1	1	4	91
MUT:POGLUT1:Asp233Glu	PROT:Q8NBL1	POGLUT1	D	233	E	D233E	Pathogenic	1	1	4	3
MUT:POGLUT1:Met387Leu	PROT:Q8NBL1	POGLUT1	M	387	L	M387L	Benign	0	1	4	149
MUT:POGLUT1:Ser371Pro	PROT:Q8NBL1	POGLUT1	S	371	P	S371P	Benign/Likely benign	0	1	4	133
MUT:POLA1:Arg1342His	PROT:P09884	POLA1	R	1342	H	R1342H	Benign/Likely benign	0	1	30	34
MUT:POLA1:Arg1402Gln	PROT:P09884	POLA1	R	1402	Q	R1402Q	Benign	0	1	30	17
MUT:POLA1:Arg622Gly	PROT:P09884	POLA1	R	622	G	R622G	Likely pathogenic	1	1	30	23
MUT:POLA1:Asp403Asn	PROT:P09884	POLA1	D	403	N	D403N	Likely pathogenic	1	1	30	1
MUT:POLA1:Gly116Arg	PROT:P09884	POLA1	G	116	R	G116R	Pathogenic	1	2	30	7
MUT:POLA1:Gly1451Ser	PROT:P09884	POLA1	G	1451	S	G1451S	Benign/Likely benign	0	1	30	11
MUT:POLA1:Ile707Met	PROT:P09884	POLA1	I	707	M	I707M	Likely pathogenic	1	2	30	46
MUT:POLA1:Ile85Ser	PROT:P09884	POLA1	I	85	S	I85S	Pathogenic	1	1	30	19
MUT:POLA1:Leu105Phe	PROT:P09884	POLA1	L	105	F	L105F	Likely benign	0	1	30	4
MUT:POLA1:Leu543Ile	PROT:P09884	POLA1	L	543	I	L543I	Likely pathogenic	1	1	30	40
MUT:POLA1:Lys756Arg	PROT:P09884	POLA1	K	756	R	K756R	Benign/Likely benign	0	1	30	73
MUT:POLA1:Met695Val	PROT:P09884	POLA1	M	695	V	M695V	Benign/Likely benign	0	1	30	34
MUT:POLA1:Pro1387Leu	PROT:P09884	POLA1	P	1387	L	P1387L	Pathogenic	1	1	30	11
MUT:POLA1:Pro502Ser	PROT:P09884	POLA1	P	502	S	P502S	Likely benign	0	1	30	1
MUT:POLA1:Thr1415Ile	PROT:P09884	POLA1	T	1415	I	T1415I	Likely benign	0	1	30	4
MUT:POLA1:Thr429Ala	PROT:P09884	POLA1	T	429	A	T429A	Likely benign	0	1	30	9
MUT:POLA1:Tyr1152Cys	PROT:P09884	POLA1	Y	1152	C	Y1152C	Likely pathogenic	1	1	30	77
MUT:POLA1:Tyr746His	PROT:P09884	POLA1	Y	746	H	Y746H	Benign/Likely benign	0	1	30	83
MUT:POLA1:Val1049Ile	PROT:P09884	POLA1	V	1049	I	V1049I	Benign/Likely benign	0	1	30	5
MUT:POLA2:Ile96Thr	PROT:Q14181	POLA2	I	96	T	I96T	Likely pathogenic	1	1	20	13
MUT:POLD1:Ala145Thr	PROT:P28340	POLD1	A	145	T	A145T	Benign/Likely benign	0	5	45	68
MUT:POLD1:Ala171Ser	PROT:P28340	POLD1	A	171	S	A171S	Likely benign	0	2	45	42
MUT:POLD1:Ala354Val	PROT:P28340	POLD1	A	354	V	A354V	Benign/Likely benign	0	3	45	13
MUT:POLD1:Ala599Val	PROT:P28340	POLD1	A	599	V	A599V	Likely benign	0	1	45	18
MUT:POLD1:Ala846Thr	PROT:P28340	POLD1	A	846	T	A846T	Likely benign	0	1	45	1
MUT:POLD1:Ala895Thr	PROT:P28340	POLD1	A	895	T	A895T	Likely benign	0	1	45	2
MUT:POLD1:Arg1086Gly	PROT:P28340	POLD1	R	1086	G	R1086G	Likely benign	0	1	45	1
MUT:POLD1:Arg119His	PROT:P28340	POLD1	R	119	H	R119H	Benign	0	3	45	94
MUT:POLD1:Arg180Lys	PROT:P28340	POLD1	R	180	K	R180K	Likely benign	0	1	45	33
MUT:POLD1:Arg19His	PROT:P28340	POLD1	R	19	H	R19H	Benign/Likely benign	0	3	45	194
MUT:POLD1:Arg30Trp	PROT:P28340	POLD1	R	30	W	R30W	Benign/Likely benign	0	2	45	183
MUT:POLD1:Arg507Cys	PROT:P28340	POLD1	R	507	C	R507C	Likely pathogenic	1	1	45	7
MUT:POLD1:Arg849His	PROT:P28340	POLD1	R	849	H	R849H	Benign/Likely benign	0	3	45	2
MUT:POLD1:Asp37Glu	PROT:P28340	POLD1	D	37	E	D37E	Likely benign	0	1	45	176
MUT:POLD1:Asp644Glu	PROT:P28340	POLD1	D	644	E	D644E	Benign/Likely benign	0	2	45	4
MUT:POLD1:Gln1022Arg	PROT:P28340	POLD1	Q	1022	R	Q1022R	Likely benign	0	1	45	15
MUT:POLD1:Gln283His	PROT:P28340	POLD1	Q	283	H	Q283H	Benign/Likely benign	0	3	45	3
MUT:POLD1:Gln90His	PROT:P28340	POLD1	Q	90	H	Q90H	Likely benign	0	2	45	123
MUT:POLD1:Glu279Lys	PROT:P28340	POLD1	E	279	K	E279K	Likely benign	0	1	45	1
MUT:POLD1:Glu375Gly	PROT:P28340	POLD1	E	375	G	E375G	Likely benign	0	1	45	2
MUT:POLD1:Gly426Arg	PROT:P28340	POLD1	G	426	R	G426R	Likely benign	0	1	45	12
MUT:POLD1:Leu170Ser	PROT:P28340	POLD1	L	170	S	L170S	Likely benign	0	1	45	43
MUT:POLD1:Leu474Pro	PROT:P28340	POLD1	L	474	P	L474P	Pathogenic/Likely pathogenic	1	2	45	12
MUT:POLD1:Lys931Asn	PROT:P28340	POLD1	K	931	N	K931N	Likely benign	0	1	45	0
MUT:POLD1:Pro303Gln	PROT:P28340	POLD1	P	303	Q	P303Q	Likely benign	0	1	45	20
MUT:POLD1:Ser1073Arg	PROT:P28340	POLD1	S	1073	R	S1073R	Likely pathogenic	1	1	45	14
MUT:POLD1:Ser173Asn	PROT:P28340	POLD1	S	173	N	S173N	Benign	0	3	45	40
MUT:POLD1:Ser194Cys	PROT:P28340	POLD1	S	194	C	S194C	Benign/Likely benign	0	3	45	19
MUT:POLD1:Ser478Arg	PROT:P28340	POLD1	S	478	R	S478R	Likely pathogenic	1	1	45	8
MUT:POLD1:Ser478Asn	PROT:P28340	POLD1	S	478	N	S478N	Pathogenic/Likely pathogenic	1	2	45	8
MUT:POLD1:Ser748Asn	PROT:P28340	POLD1	S	748	N	S748N	Likely benign	0	1	45	2
MUT:POLD1:Ser788Pro	PROT:P28340	POLD1	S	788	P	S788P	Likely benign	0	1	45	0
MUT:POLD1:Thr412Asn	PROT:P28340	POLD1	T	412	N	T412N	Likely benign	0	1	45	2
MUT:POLD1:Thr441Lys	PROT:P28340	POLD1	T	441	K	T441K	Likely benign	0	1	45	2
MUT:POLD1:Thr446Ser	PROT:P28340	POLD1	T	446	S	T446S	Likely benign	0	1	45	1
MUT:POLD1:Tyr517Phe	PROT:P28340	POLD1	Y	517	F	Y517F	Likely benign	0	1	45	3
MUT:POLD1:Tyr517Ser	PROT:P28340	POLD1	Y	517	S	Y517S	Likely benign	0	1	45	3
MUT:POLD1:Val65Ala	PROT:P28340	POLD1	V	65	A	V65A	Likely benign	0	1	45	148
MUT:POLE2:His84Pro	PROT:P56282	POLE2	H	84	P	H84P	Benign	0	1	8	21
MUT:POLE2:Leu456Val	PROT:P56282	POLE2	L	456	V	L456V	Benign	0	1	8	34
MUT:POLE2:Ser12Phe	PROT:P56282	POLE2	S	12	F	S12F	Benign	0	1	8	3
MUT:POLE2:Tyr472His	PROT:P56282	POLE2	Y	472	H	Y472H	Benign/Likely benign	0	1	8	50
MUT:POLK:Asp551Val	PROT:Q9UBT6	POLK	D	551	V	D551V	Pathogenic	1	1	22	6
MUT:POLK:Asp581Asn	PROT:Q9UBT6	POLK	D	581	N	D581N	Pathogenic	1	1	22	17
MUT:POLK:Asp866Glu	PROT:Q9UBT6	POLK	D	866	E	D866E	Pathogenic	1	1	22	17
MUT:POLK:Glu419Gly	PROT:Q9UBT6	POLK	E	419	G	E419G	Pathogenic	1	1	22	47
MUT:POLK:Glu430Gly	PROT:Q9UBT6	POLK	E	430	G	E430G	Pathogenic	1	1	22	58
MUT:POLK:Glu449Lys	PROT:Q9UBT6	POLK	E	449	K	E449K	Pathogenic	1	1	22	74
MUT:POLK:Gly154Glu	PROT:Q9UBT6	POLK	G	154	E	G154E	Pathogenic	1	1	22	4
MUT:POLK:Ile487Thr	PROT:Q9UBT6	POLK	I	487	T	I487T	Pathogenic	1	1	22	36
MUT:POLK:Leu442Phe	PROT:Q9UBT6	POLK	L	442	F	L442F	Pathogenic	1	1	22	70
MUT:POLK:Leu731His	PROT:Q9UBT6	POLK	L	731	H	L731H	Pathogenic	1	1	22	6
MUT:POLK:Lys461Glu	PROT:Q9UBT6	POLK	K	461	E	K461E	Pathogenic	1	1	22	62
MUT:POLK:Phe155Ser	PROT:Q9UBT6	POLK	F	155	S	F155S	Pathogenic	1	1	22	3
MUT:POLK:Phe171Ser	PROT:Q9UBT6	POLK	F	171	S	F171S	Pathogenic	1	1	22	2
MUT:POLK:Ser528Cys	PROT:Q9UBT6	POLK	S	528	C	S528C	Pathogenic	1	1	22	5
MUT:POLK:Ser678Phe	PROT:Q9UBT6	POLK	S	678	F	S678F	Pathogenic	1	1	22	5
MUT:POLL:Ile491Val	PROT:Q9UGP5	POLL	I	491	V	I491V	Likely benign	0	1	5	261
MUT:POLL:Ser497Arg	PROT:Q9UGP5	POLL	S	497	R	S497R	Likely benign	0	1	5	267
MUT:POLQ:Ala2304Val	PROT:O75417	POLQ	A	2304	V	A2304V	Benign	0	1	19	9
MUT:POLQ:Ala2464Thr	PROT:O75417	POLQ	A	2464	T	A2464T	Benign/Likely benign	0	1	19	47
MUT:POLQ:Ala2547Val	PROT:O75417	POLQ	A	2547	V	A2547V	Benign	0	1	19	130
MUT:POLQ:Ala581Val	PROT:O75417	POLQ	A	581	V	A581V	Benign	0	1	19	263
MUT:POLQ:Ala72Thr	PROT:O75417	POLQ	A	72	T	A72T	Likely benign	0	1	19	104
MUT:POLQ:Arg1953Gln	PROT:O75417	POLQ	R	1953	Q	R1953Q	Benign	0	1	19	13
MUT:POLQ:Arg516Cys	PROT:O75417	POLQ	R	516	C	R516C	Benign	0	1	19	208
MUT:POLQ:Arg66Ile	PROT:O75417	POLQ	R	66	I	R66I	Benign	0	1	19	110
MUT:POLQ:Arg6Gly	PROT:O75417	POLQ	R	6	G	R6G	Likely benign	0	1	19	170
MUT:POLQ:Asp1562Tyr	PROT:O75417	POLQ	D	1562	Y	D1562Y	Benign	0	2	19	25
MUT:POLQ:Asp1784Tyr	PROT:O75417	POLQ	D	1784	Y	D1784Y	Benign	0	5	19	82
MUT:POLQ:Asp250Ala	PROT:O75417	POLQ	D	250	A	D250A	Likely benign	0	1	19	58
MUT:POLQ:Gln1565His	PROT:O75417	POLQ	Q	1565	H	Q1565H	Benign	0	1	19	22
MUT:POLQ:Gln2513Arg	PROT:O75417	POLQ	Q	2513	R	Q2513R	Benign	0	1	19	96
MUT:POLQ:Glu964Ala	PROT:O75417	POLQ	E	964	A	E964A	Benign	0	1	19	3
MUT:POLQ:Gly1256Glu	PROT:O75417	POLQ	G	1256	E	G1256E	Benign	0	1	19	4
MUT:POLQ:Gly1751Trp	PROT:O75417	POLQ	G	1751	W	G1751W	Benign/Likely benign	0	1	19	80
MUT:POLQ:His1201Arg	PROT:O75417	POLQ	H	1201	R	H1201R	Benign	0	1	19	59
MUT:POLQ:His1545Gln	PROT:O75417	POLQ	H	1545	Q	H1545Q	Benign	0	1	19	42
MUT:POLQ:His225Tyr	PROT:O75417	POLQ	H	225	Y	H225Y	Benign	0	1	19	49
MUT:POLQ:Leu2538Val	PROT:O75417	POLQ	L	2538	V	L2538V	Benign	0	1	19	121
MUT:POLQ:Lys513Asn	PROT:O75417	POLQ	K	513	N	K513N	Likely benign	0	1	19	205
MUT:POLQ:Lys91Asn	PROT:O75417	POLQ	K	91	N	K91N	Benign	0	1	19	85
MUT:POLQ:Met1507Thr	PROT:O75417	POLQ	M	1507	T	M1507T	Likely benign	0	1	19	80
MUT:POLQ:Pro1056Leu	PROT:O75417	POLQ	P	1056	L	P1056L	Benign	0	1	19	95
MUT:POLQ:Pro1381Thr	PROT:O75417	POLQ	P	1381	T	P1381T	Benign	0	1	19	33
MUT:POLQ:Ser1879Leu	PROT:O75417	POLQ	S	1879	L	S1879L	Benign/Likely benign	0	1	19	13
MUT:POLQ:Ser305Ala	PROT:O75417	POLQ	S	305	A	S305A	Likely benign	0	1	19	3
MUT:POLQ:Ser962Gly	PROT:O75417	POLQ	S	962	G	S962G	Benign	0	6	19	1
MUT:POLQ:Thr1299Ala	PROT:O75417	POLQ	T	1299	A	T1299A	Likely benign	0	1	19	5
MUT:POLQ:Thr982Arg	PROT:O75417	POLQ	T	982	R	T982R	Benign	0	1	19	21
MUT:POLQ:Trp661Gly	PROT:O75417	POLQ	W	661	G	W661G	Likely benign	0	1	19	183
MUT:POLQ:Val2183Ile	PROT:O75417	POLQ	V	2183	I	V2183I	Benign	0	1	19	22
MUT:POLQ:Val310Gly	PROT:O75417	POLQ	V	310	G	V310G	Benign	0	1	19	2
MUT:POLQ:Val489Leu	PROT:O75417	POLQ	V	489	L	V489L	Likely benign	0	1	19	181
MUT:POLR1A:Ala2Val	PROT:O95602	POLR1A	A	2	V	A2V	Benign	0	4	31	29
MUT:POLR1A:Arg1387Gln	PROT:O95602	POLR1A	R	1387	Q	R1387Q	Benign	0	1	31	26
MUT:POLR1A:Arg158Pro	PROT:O95602	POLR1A	R	158	P	R158P	Benign/Likely benign	0	1	31	18
MUT:POLR1A:Arg310Cys	PROT:O95602	POLR1A	R	310	C	R310C	Likely pathogenic	1	1	31	58
MUT:POLR1A:Cys1562Phe	PROT:O95602	POLR1A	C	1562	F	C1562F	Likely pathogenic	1	1	31	73
MUT:POLR1A:Glu1471Gly	PROT:O95602	POLR1A	E	1471	G	E1471G	Likely benign	0	1	31	18
MUT:POLR1A:Glu593Gln	PROT:O95602	POLR1A	E	593	Q	E593Q	Pathogenic	1	1	31	57
MUT:POLR1A:Lys364Glu	PROT:O95602	POLR1A	K	364	E	K364E	Benign	0	12	31	112
MUT:POLR1A:Met1445Thr	PROT:O95602	POLR1A	M	1445	T	M1445T	Likely benign	0	1	31	32
MUT:POLR1A:Pro150Ala	PROT:O95602	POLR1A	P	150	A	P150A	Benign	0	1	31	26
MUT:POLR1A:Thr527Met	PROT:O95602	POLR1A	T	527	M	T527M	Likely benign	0	2	31	4
MUT:POLR1A:Thr643Ile	PROT:O95602	POLR1A	T	643	I	T643I	Likely benign	0	1	31	21
MUT:POLR1A:Thr786Ile	PROT:O95602	POLR1A	T	786	I	T786I	Pathogenic	1	1	31	19
MUT:POLR1B:Arg1003Cys	PROT:Q9H9Y6	POLR1B	R	1003	C	R1003C	Pathogenic	1	3	12	4
MUT:POLR1B:Arg1003Ser	PROT:Q9H9Y6	POLR1B	R	1003	S	R1003S	Pathogenic	1	2	12	4
MUT:POLR1B:Arg1064Gln	PROT:Q9H9Y6	POLR1B	R	1064	Q	R1064Q	Likely benign	0	1	12	19
MUT:POLR1B:Gln688Arg	PROT:Q9H9Y6	POLR1B	Q	688	R	Q688R	Likely pathogenic	1	1	12	96
MUT:POLR1B:Pro546Ser	PROT:Q9H9Y6	POLR1B	P	546	S	P546S	Likely benign	0	1	12	140
MUT:POLR1B:Ser682Arg	PROT:Q9H9Y6	POLR1B	S	682	R	S682R	Pathogenic	1	2	12	102
MUT:POLR1B:Val867Ala	PROT:Q9H9Y6	POLR1B	V	867	A	V867A	Benign	0	1	12	81
MUT:POLR1C:Ala117Pro	PROT:O15160	POLR1C	A	117	P	A117P	Pathogenic	1	1	19	7
MUT:POLR1C:Ala315Val	PROT:O15160	POLR1C	A	315	V	A315V	Benign	0	1	19	17
MUT:POLR1C:Arg109Cys	PROT:O15160	POLR1C	R	109	C	R109C	Pathogenic/Likely pathogenic	1	1	19	15
MUT:POLR1C:Arg109His	PROT:O15160	POLR1C	R	109	H	R109H	Pathogenic/Likely pathogenic	1	3	19	15
MUT:POLR1C:Arg279Gln	PROT:O15160	POLR1C	R	279	Q	R279Q	Pathogenic/Likely pathogenic	1	3	19	3
MUT:POLR1C:Arg279Trp	PROT:O15160	POLR1C	R	279	W	R279W	Pathogenic/Likely pathogenic	1	2	19	3
MUT:POLR1C:Asn32Ile	PROT:O15160	POLR1C	N	32	I	N32I	Pathogenic	1	1	19	1
MUT:POLR1C:Cys146Arg	PROT:O15160	POLR1C	C	146	R	C146R	Pathogenic	1	1	19	8
MUT:POLR1C:Glu324Lys	PROT:O15160	POLR1C	E	324	K	E324K	Pathogenic	1	1	19	8
MUT:POLR1C:Glu8Gly	PROT:O15160	POLR1C	E	8	G	E8G	Likely benign	0	1	19	4
MUT:POLR1C:Gly342Val	PROT:O15160	POLR1C	G	342	V	G342V	Benign	0	1	19	10
MUT:POLR1C:Ile105Phe	PROT:O15160	POLR1C	I	105	F	I105F	Pathogenic/Likely pathogenic	1	1	19	14
MUT:POLR1C:Ile262Thr	PROT:O15160	POLR1C	I	262	T	I262T	Pathogenic/Likely pathogenic	1	1	19	4
MUT:POLR1C:Met212Val	PROT:O15160	POLR1C	M	212	V	M212V	Benign	0	1	19	8
MUT:POLR1C:Phe122Ile	PROT:O15160	POLR1C	F	122	I	F122I	Likely pathogenic	1	2	19	2
MUT:POLR1C:Pro30Ser	PROT:O15160	POLR1C	P	30	S	P30S	Pathogenic/Likely pathogenic	1	2	19	3
MUT:POLR1C:Ser312Pro	PROT:O15160	POLR1C	S	312	P	S312P	Likely pathogenic	1	1	19	20
MUT:POLR1C:Thr26Ile	PROT:O15160	POLR1C	T	26	I	T26I	Pathogenic	1	1	19	7
MUT:POLR1C:Val168Met	PROT:O15160	POLR1C	V	168	M	V168M	Pathogenic	1	1	19	1
MUT:POLR1C:Val94Ala	PROT:O15160	POLR1C	V	94	A	V94A	Pathogenic	1	1	19	3
MUT:POLR2C:Thr26Ser	PROT:P19387	POLR2C	T	26	S	T26S	Likely pathogenic	1	1	8	14
MUT:POLR2C:Val182Leu	PROT:P19387	POLR2C	V	182	L	V182L	Likely pathogenic	1	1	8	7
MUT:POLR3A:Ala387Gly	PROT:O14802	POLR3A	A	387	G	A387G	Likely pathogenic	1	1	45	1
MUT:POLR3A:Arg1005Cys	PROT:O14802	POLR3A	R	1005	C	R1005C	Pathogenic/Likely pathogenic	1	3	45	8
MUT:POLR3A:Arg1069Trp	PROT:O14802	POLR3A	R	1069	W	R1069W	Likely pathogenic	1	2	45	2
MUT:POLR3A:Arg1245Gln	PROT:O14802	POLR3A	R	1245	Q	R1245Q	Likely benign	0	2	45	3
MUT:POLR3A:Arg582His	PROT:O14802	POLR3A	R	582	H	R582H	Benign/Likely benign	0	1	45	8
MUT:POLR3A:Arg582Leu	PROT:O14802	POLR3A	R	582	L	R582L	Benign/Likely benign	0	1	45	8
MUT:POLR3A:Asn775Lys	PROT:O14802	POLR3A	N	775	K	N775K	Pathogenic	1	1	45	1
MUT:POLR3A:Cys724Tyr	PROT:O14802	POLR3A	C	724	Y	C724Y	Pathogenic	1	2	45	1
MUT:POLR3A:Gly1302Val	PROT:O14802	POLR3A	G	1302	V	G1302V	Likely pathogenic	1	1	45	46
MUT:POLR3A:Gly1358Glu	PROT:O14802	POLR3A	G	1358	E	G1358E	Likely pathogenic	1	1	45	7
MUT:POLR3A:Gly648Asp	PROT:O14802	POLR3A	G	648	D	G648D	Likely pathogenic	1	1	45	4
MUT:POLR3A:Gly672Glu	PROT:O14802	POLR3A	G	672	E	G672E	Pathogenic/Likely pathogenic	1	3	45	12
MUT:POLR3A:Gly784Ser	PROT:O14802	POLR3A	G	784	S	G784S	Likely pathogenic	1	2	45	10
MUT:POLR3A:Gly84Glu	PROT:O14802	POLR3A	G	84	E	G84E	Likely pathogenic	1	1	45	60
MUT:POLR3A:His824Pro	PROT:O14802	POLR3A	H	824	P	H824P	Likely pathogenic	1	1	45	50
MUT:POLR3A:Ile897Asn	PROT:O14802	POLR3A	I	897	N	I897N	Pathogenic	1	1	45	20
MUT:POLR3A:Ile980Val	PROT:O14802	POLR3A	I	980	V	I980V	Benign/Likely benign	0	13	45	3
MUT:POLR3A:Lys575Met	PROT:O14802	POLR3A	K	575	M	K575M	Benign/Likely benign	0	2	45	15
MUT:POLR3A:Met1Ile	PROT:O14802	POLR3A	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	45	22
MUT:POLR3A:Met852Val	PROT:O14802	POLR3A	M	852	V	M852V	Pathogenic/Likely pathogenic	1	2	45	25
MUT:POLR3A:Pro466Leu	PROT:O14802	POLR3A	P	466	L	P466L	Likely pathogenic	1	1	45	21
MUT:POLR3A:Pro705Ala	PROT:O14802	POLR3A	P	705	A	P705A	Likely pathogenic	1	1	45	17
MUT:POLR3A:Ser941Arg	PROT:O14802	POLR3A	S	941	R	S941R	Likely pathogenic	1	1	45	0
MUT:POLR3A:Trp671Arg	PROT:O14802	POLR3A	W	671	R	W671R	Likely pathogenic	1	1	45	11
MUT:POLR3B:Ala365Val	PROT:Q9NW08	POLR3B	A	365	V	A365V	Pathogenic	1	2	17	29
MUT:POLR3B:Ala5Val	PROT:Q9NW08	POLR3B	A	5	V	A5V	Likely benign	0	1	17	167
MUT:POLR3B:Arg1046His	PROT:Q9NW08	POLR3B	R	1046	H	R1046H	Pathogenic/Likely pathogenic	1	1	17	76
MUT:POLR3B:Asn700Thr	PROT:Q9NW08	POLR3B	N	700	T	N700T	Likely pathogenic	1	1	17	20
MUT:POLR3B:Asp375Val	PROT:Q9NW08	POLR3B	D	375	V	D375V	Likely pathogenic	1	2	17	19
MUT:POLR3B:Asp653Val	PROT:Q9NW08	POLR3B	D	653	V	D653V	Benign/Likely benign	0	1	17	27
MUT:POLR3B:Asp926Glu	PROT:Q9NW08	POLR3B	D	926	E	D926E	Pathogenic	1	1	17	30
MUT:POLR3B:Glu258Ala	PROT:Q9NW08	POLR3B	E	258	A	E258A	Benign/Likely benign	0	1	17	48
MUT:POLR3B:Glu363Lys	PROT:Q9NW08	POLR3B	E	363	K	E363K	Likely pathogenic	1	1	17	31
MUT:POLR3B:Gly1087Glu	PROT:Q9NW08	POLR3B	G	1087	E	G1087E	Likely pathogenic	1	1	17	117
MUT:POLR3B:Gly435Val	PROT:Q9NW08	POLR3B	G	435	V	G435V	Likely pathogenic	1	1	17	31
MUT:POLR3B:Ile343Thr	PROT:Q9NW08	POLR3B	I	343	T	I343T	Likely pathogenic	1	1	17	19
MUT:POLR3B:Leu104Phe	PROT:Q9NW08	POLR3B	L	104	F	L104F	Pathogenic	1	1	17	68
MUT:POLR3B:Pro925Gln	PROT:Q9NW08	POLR3B	P	925	Q	P925Q	Pathogenic	1	1	17	29
MUT:POLR3B:Ser457Phe	PROT:Q9NW08	POLR3B	S	457	F	S457F	Likely pathogenic	1	1	17	53
MUT:POLR3B:Thr437Ile	PROT:Q9NW08	POLR3B	T	437	I	T437I	Likely pathogenic	1	1	17	33
MUT:POLR3B:Thr503Lys	PROT:Q9NW08	POLR3B	T	503	K	T503K	Pathogenic	1	1	17	98
MUT:POLR3B:Thr663Ile	PROT:Q9NW08	POLR3B	T	663	I	T663I	Likely pathogenic	1	1	17	17
MUT:POLR3B:Thr740Ala	PROT:Q9NW08	POLR3B	T	740	A	T740A	Benign	0	1	17	60
MUT:POLR3B:Tyr746Cys	PROT:Q9NW08	POLR3B	Y	746	C	Y746C	Likely pathogenic	1	1	17	66
MUT:POLR3B:Val523Glu	PROT:Q9NW08	POLR3B	V	523	E	V523E	Pathogenic/Likely pathogenic	1	6	17	78
MUT:POLR3C:Arg367His	PROT:Q9BUI4	POLR3C	R	367	H	R367H	Likely benign	0	1	16	53
MUT:POLR3C:Glu143Asp	PROT:Q9BUI4	POLR3C	E	143	D	E143D	Likely benign	0	1	16	51
MUT:POLR3C:Glu184Gly	PROT:Q9BUI4	POLR3C	E	184	G	E184G	Likely benign	0	1	16	10
MUT:POLR3C:Lys192Thr	PROT:Q9BUI4	POLR3C	K	192	T	K192T	Likely benign	0	1	16	2
MUT:POLR3K:Arg41Trp	PROT:Q9Y2Y1	POLR3K	R	41	W	R41W	Pathogenic	1	1	1	30
MUT:POLR3K:Asp108Tyr	PROT:Q9Y2Y1	POLR3K	D	108	Y	D108Y	Pathogenic	1	1	1	37
MUT:POLRMT:Arg1013Cys	PROT:O00411	POLRMT	R	1013	C	R1013C	Pathogenic	1	1	9	184
MUT:POLRMT:Gln47His	PROT:O00411	POLRMT	Q	47	H	Q47H	Likely benign	0	1	9	30
MUT:POLRMT:Glu555Ala	PROT:O00411	POLRMT	E	555	A	E555A	Benign	0	1	9	23
MUT:POLRMT:Glu900Lys	PROT:O00411	POLRMT	E	900	K	E900K	Likely benign	0	1	9	297
MUT:POLRMT:His250Asp	PROT:O00411	POLRMT	H	250	D	H250D	Likely pathogenic	1	1	9	100
MUT:POLRMT:Phe641Leu	PROT:O00411	POLRMT	F	641	L	F641L	Pathogenic	1	1	9	109
MUT:POLRMT:Phe813Ser	PROT:O00411	POLRMT	F	813	S	F813S	Pathogenic	1	1	9	281
MUT:POLRMT:Pro647Leu	PROT:O00411	POLRMT	P	647	L	P647L	Pathogenic	1	1	9	115
MUT:POLRMT:Ser611Phe	PROT:O00411	POLRMT	S	611	F	S611F	Pathogenic	1	1	9	79
MUT:POLRMT:Ser784Leu	PROT:O00411	POLRMT	S	784	L	S784L	Likely pathogenic	1	1	9	252
MUT:POLRMT:Val60Met	PROT:O00411	POLRMT	V	60	M	V60M	Benign/Likely benign	0	1	9	17
MUT:POLRMT:Val901Met	PROT:O00411	POLRMT	V	901	M	V901M	Likely benign	0	1	9	296
MUT:POMGNT1:Arg129Trp	PROT:Q8WZA1	POMGNT1	R	129	W	R129W	Pathogenic/Likely pathogenic	1	4	8	53
MUT:POMGNT1:Arg265Pro	PROT:Q8WZA1	POMGNT1	R	265	P	R265P	Likely pathogenic	1	2	8	77
MUT:POMGNT1:Arg311Gln	PROT:Q8WZA1	POMGNT1	R	311	Q	R311Q	Pathogenic/Likely pathogenic	1	4	8	123
MUT:POMGNT1:Arg442Cys	PROT:Q8WZA1	POMGNT1	R	442	C	R442C	Pathogenic/Likely pathogenic	1	8	8	79
MUT:POMGNT1:Arg442His	PROT:Q8WZA1	POMGNT1	R	442	H	R442H	Pathogenic/Likely pathogenic	1	4	8	79
MUT:POMGNT1:Arg605Gly	PROT:Q8WZA1	POMGNT1	R	605	G	R605G	Likely pathogenic	1	1	8	55
MUT:POMGNT1:Arg605His	PROT:Q8WZA1	POMGNT1	R	605	H	R605H	Pathogenic/Likely pathogenic	1	3	8	55
MUT:POMGNT1:Arg605Pro	PROT:Q8WZA1	POMGNT1	R	605	P	R605P	Pathogenic/Likely pathogenic	1	4	8	55
MUT:POMGNT1:Arg605Ser	PROT:Q8WZA1	POMGNT1	R	605	S	R605S	Likely pathogenic	1	1	8	55
MUT:POMGNT1:Arg97Trp	PROT:Q8WZA1	POMGNT1	R	97	W	R97W	Benign/Likely benign	0	1	8	85
MUT:POMGNT1:Cys269Tyr	PROT:Q8WZA1	POMGNT1	C	269	Y	C269Y	Likely pathogenic	1	1	8	81
MUT:POMGNT1:Cys490Tyr	PROT:Q8WZA1	POMGNT1	C	490	Y	C490Y	Pathogenic/Likely pathogenic	1	5	8	31
MUT:POMGNT1:Glu156Lys	PROT:Q8WZA1	POMGNT1	E	156	K	E156K	Pathogenic	1	1	8	26
MUT:POMGNT1:Gly429Val	PROT:Q8WZA1	POMGNT1	G	429	V	G429V	Likely pathogenic	1	1	8	92
MUT:POMGNT1:Gly502Ala	PROT:Q8WZA1	POMGNT1	G	502	A	G502A	Pathogenic	1	1	8	19
MUT:POMGNT1:Gly625Arg	PROT:Q8WZA1	POMGNT1	G	625	R	G625R	Likely pathogenic	1	1	8	75
MUT:POMGNT1:Leu120Arg	PROT:Q8WZA1	POMGNT1	L	120	R	L120R	Pathogenic	1	1	8	62
MUT:POMGNT1:Leu440Arg	PROT:Q8WZA1	POMGNT1	L	440	R	L440R	Likely pathogenic	1	1	8	81
MUT:POMGNT1:Leu99Pro	PROT:Q8WZA1	POMGNT1	L	99	P	L99P	Likely pathogenic	1	2	8	83
MUT:POMGNT1:Met623Val	PROT:Q8WZA1	POMGNT1	M	623	V	M623V	Benign	0	6	8	73
MUT:POMGNT1:Pro493Arg	PROT:Q8WZA1	POMGNT1	P	493	R	P493R	Pathogenic	1	1	8	28
MUT:POMGNT1:Ser198Arg	PROT:Q8WZA1	POMGNT1	S	198	R	S198R	Likely pathogenic	1	2	8	10
MUT:POMGNT1:Ser423Phe	PROT:Q8WZA1	POMGNT1	S	423	F	S423F	Likely pathogenic	1	1	8	98
MUT:POMGNT1:Ser550Asn	PROT:Q8WZA1	POMGNT1	S	550	N	S550N	Pathogenic/Likely pathogenic	1	3	8	0
MUT:POMGNT1:Thr433Met	PROT:Q8WZA1	POMGNT1	T	433	M	T433M	Benign/Likely benign	0	3	8	88
MUT:POMGNT1:Trp210Cys	PROT:Q8WZA1	POMGNT1	W	210	C	W210C	Pathogenic/Likely pathogenic	1	1	8	22
MUT:POP1:Ala360Thr	PROT:Q99575	POP1	A	360	T	A360T	Likely benign	0	1	15	11
MUT:POP1:Ala775Thr	PROT:Q99575	POP1	A	775	T	A775T	Likely benign	0	1	15	152
MUT:POP1:Asp511Tyr	PROT:Q99575	POP1	D	511	Y	D511Y	Pathogenic	1	1	15	73
MUT:POP1:Glu460Ala	PROT:Q99575	POP1	E	460	A	E460A	Benign	0	1	15	56
MUT:POP1:His591Arg	PROT:Q99575	POP1	H	591	R	H591R	Likely benign	0	1	15	7
MUT:POP1:Ile1022Val	PROT:Q99575	POP1	I	1022	V	I1022V	Likely benign	0	1	15	95
MUT:POP1:Ile421Val	PROT:Q99575	POP1	I	421	V	I421V	Likely benign	0	1	15	17
MUT:POP1:Leu994Val	PROT:Q99575	POP1	L	994	V	L994V	Benign	0	1	15	67
MUT:POP1:Lys522Asn	PROT:Q99575	POP1	K	522	N	K522N	Benign	0	1	15	62
MUT:POP1:Pro525Ser	PROT:Q99575	POP1	P	525	S	P525S	Pathogenic	1	1	15	59
MUT:POP1:Pro582Ser	PROT:Q99575	POP1	P	582	S	P582S	Pathogenic	1	1	15	2
MUT:POP1:Trp890Arg	PROT:Q99575	POP1	W	890	R	W890R	Likely benign	0	1	15	37
MUT:POP1:Val477Ile	PROT:Q99575	POP1	V	477	I	V477I	Likely benign	0	1	15	73
MUT:POP1:Val696Asp	PROT:Q99575	POP1	V	696	D	V696D	Likely pathogenic	1	1	15	91
MUT:POR:Ala112Val	PROT:P16435	POR	A	112	V	A112V	Likely benign	0	1	18	50
MUT:POR:Ala284Pro	PROT:P16435	POR	A	284	P	A284P	Pathogenic	1	6	18	5
MUT:POR:Ala500Val	PROT:P16435	POR	A	500	V	A500V	Benign/Likely benign	0	2	18	13
MUT:POR:Arg454His	PROT:P16435	POR	R	454	H	R454H	Pathogenic/Likely pathogenic	1	2	18	33
MUT:POR:Arg495Pro	PROT:P16435	POR	R	495	P	R495P	Likely pathogenic	1	1	18	8
MUT:POR:Cys566Tyr	PROT:P16435	POR	C	566	Y	C566Y	Likely pathogenic	1	3	18	2
MUT:POR:Gly536Arg	PROT:P16435	POR	G	536	R	G536R	Pathogenic	1	4	18	7
MUT:POR:Gly85Ser	PROT:P16435	POR	G	85	S	G85S	Pathogenic	1	1	18	23
MUT:POR:His625Pro	PROT:P16435	POR	H	625	P	H625P	Likely pathogenic	1	1	18	12
MUT:POR:Leu371His	PROT:P16435	POR	L	371	H	L371H	Likely pathogenic	1	1	18	57
MUT:POR:Leu562Pro	PROT:P16435	POR	L	562	P	L562P	Likely pathogenic	1	2	18	2
MUT:POR:Trp493Arg	PROT:P16435	POR	W	493	R	W493R	Likely pathogenic	1	1	18	6
MUT:POR:Tyr178Asp	PROT:P16435	POR	Y	178	D	Y178D	Pathogenic	1	1	18	2
MUT:POR:Tyr575Cys	PROT:P16435	POR	Y	575	C	Y575C	Pathogenic	1	1	18	0
MUT:POR:Tyr604Cys	PROT:P16435	POR	Y	604	C	Y604C	Likely pathogenic	1	2	18	0
MUT:POR:Val489Glu	PROT:P16435	POR	V	489	E	V489E	Pathogenic	1	1	18	2
MUT:POR:Val605Phe	PROT:P16435	POR	V	605	F	V605F	Pathogenic	1	1	18	1
MUT:PORCN:Ala38Thr	PROT:Q9H237	PORCN	A	38	T	A38T	Likely benign	0	1	2	340
MUT:PORCN:Arg195Gln	PROT:Q9H237	PORCN	R	195	Q	R195Q	Likely benign	0	1	2	183
MUT:PORCN:Arg323His	PROT:Q9H237	PORCN	R	323	H	R323H	Likely benign	0	1	2	55
MUT:PORCN:Arg365Gln	PROT:Q9H237	PORCN	R	365	Q	R365Q	Pathogenic	1	1	2	13
MUT:PORCN:Cys209Ser	PROT:Q9H237	PORCN	C	209	S	C209S	Pathogenic	1	1	2	169
MUT:PORCN:Gly168Arg	PROT:Q9H237	PORCN	G	168	R	G168R	Pathogenic	1	2	2	210
MUT:PORCN:Gly168Val	PROT:Q9H237	PORCN	G	168	V	G168V	Likely pathogenic	1	1	2	210
MUT:PORCN:Gly60Arg	PROT:Q9H237	PORCN	G	60	R	G60R	Pathogenic	1	1	2	318
MUT:PORCN:Leu261Pro	PROT:Q9H237	PORCN	L	261	P	L261P	Likely pathogenic	1	1	2	117
MUT:PORCN:Met109Val	PROT:Q9H237	PORCN	M	109	V	M109V	Benign/Likely benign	0	1	2	269
MUT:PORCN:Met114Arg	PROT:Q9H237	PORCN	M	114	R	M114R	Likely pathogenic	1	1	2	264
MUT:PORCN:Pro295Leu	PROT:Q9H237	PORCN	P	295	L	P295L	Likely pathogenic	1	1	2	83
MUT:PORCN:Thr425Ile	PROT:Q9H237	PORCN	T	425	I	T425I	Benign/Likely benign	0	2	2	46
MUT:PORCN:Trp189Arg	PROT:Q9H237	PORCN	W	189	R	W189R	Likely pathogenic	1	1	2	189
MUT:PORCN:Trp454Ser	PROT:Q9H237	PORCN	W	454	S	W454S	Likely benign	0	1	2	75
MUT:PORCN:Val101Ile	PROT:Q9H237	PORCN	V	101	I	V101I	Benign/Likely benign	0	1	2	277
MUT:PORCN:Val330Leu	PROT:Q9H237	PORCN	V	330	L	V330L	Likely benign	0	1	2	48
MUT:POTEF:Ile211Thr	PROT:A5A3E0	POTEF	I	211	T	I211T	Likely benign	0	1	27	57
MUT:POU1F1:Ala158Pro	PROT:P28069	POU1F1	A	158	P	A158P	Pathogenic	1	2	2	116
MUT:POU1F1:Arg143Gln	PROT:P28069	POU1F1	R	143	Q	R143Q	Pathogenic	1	2	2	131
MUT:POU1F1:Arg172Gln	PROT:P28069	POU1F1	R	172	Q	R172Q	Pathogenic/Likely pathogenic	1	3	2	102
MUT:POU1F1:Arg265Trp	PROT:P28069	POU1F1	R	265	W	R265W	Pathogenic/Likely pathogenic	1	1	2	9
MUT:POU1F1:Gln167Pro	PROT:P28069	POU1F1	Q	167	P	Q167P	Likely pathogenic	1	1	2	107
MUT:POU1F1:Glu230Lys	PROT:P28069	POU1F1	E	230	K	E230K	Pathogenic/Likely pathogenic	1	3	2	44
MUT:POU1F1:Ile221Thr	PROT:P28069	POU1F1	I	221	T	I221T	Likely pathogenic	1	1	2	53
MUT:POU1F1:Ile244Thr	PROT:P28069	POU1F1	I	244	T	I244T	Likely pathogenic	1	1	2	30
MUT:POU1F1:Phe135Cys	PROT:P28069	POU1F1	F	135	C	F135C	Pathogenic	1	1	2	139
MUT:POU1F1:Pro239Ser	PROT:P28069	POU1F1	P	239	S	P239S	Pathogenic	1	1	2	35
MUT:POU1F1:Pro24Leu	PROT:P28069	POU1F1	P	24	L	P24L	Likely pathogenic	1	1	2	250
MUT:POU1F1:Ser179Arg	PROT:P28069	POU1F1	S	179	R	S179R	Pathogenic	1	1	2	95
MUT:POU1F1:Trp193Arg	PROT:P28069	POU1F1	W	193	R	W193R	Pathogenic	1	1	2	81
MUT:POU3F3:Arg333Pro	PROT:P20264	POU3F3	R	333	P	R333P	Likely pathogenic	1	1	3	44
MUT:POU3F3:Arg362Leu	PROT:P20264	POU3F3	R	362	L	R362L	Pathogenic/Likely pathogenic	1	1	3	15
MUT:POU3F3:Arg362Ser	PROT:P20264	POU3F3	R	362	S	R362S	Pathogenic	1	1	3	15
MUT:POU3F3:Arg407His	PROT:P20264	POU3F3	R	407	H	R407H	Likely pathogenic	1	1	3	5
MUT:POU3F3:Arg407Leu	PROT:P20264	POU3F3	R	407	L	R407L	Pathogenic/Likely pathogenic	1	1	3	5
MUT:POU3F3:Arg457Pro	PROT:P20264	POU3F3	R	457	P	R457P	Likely pathogenic	1	1	3	45
MUT:POU3F3:Arg458His	PROT:P20264	POU3F3	R	458	H	R458H	Likely pathogenic	1	1	3	46
MUT:POU3F3:Asn456Asp	PROT:P20264	POU3F3	N	456	D	N456D	Likely pathogenic	1	1	3	44
MUT:POU3F3:Asn456Ser	PROT:P20264	POU3F3	N	456	S	N456S	Likely pathogenic	1	2	3	44
MUT:POU3F3:Asp66Asn	PROT:P20264	POU3F3	D	66	N	D66N	Likely benign	0	1	3	311
MUT:POU3F3:Asp66Glu	PROT:P20264	POU3F3	D	66	E	D66E	Likely benign	0	1	3	311
MUT:POU3F3:Cys455Arg	PROT:P20264	POU3F3	C	455	R	C455R	Likely pathogenic	1	1	3	43
MUT:POU3F3:Gln328Pro	PROT:P20264	POU3F3	Q	328	P	Q328P	Pathogenic	1	1	3	49
MUT:POU3F3:Gln340Leu	PROT:P20264	POU3F3	Q	340	L	Q340L	Likely pathogenic	1	1	3	37
MUT:POU3F3:Gln340Pro	PROT:P20264	POU3F3	Q	340	P	Q340P	Likely pathogenic	1	1	3	37
MUT:POU3F3:Gly337Ser	PROT:P20264	POU3F3	G	337	S	G337S	Likely pathogenic	1	1	3	40
MUT:POU3F3:Gly494Trp	PROT:P20264	POU3F3	G	494	W	G494W	Likely benign	0	1	3	82
MUT:POU3F3:Lys406Arg	PROT:P20264	POU3F3	K	406	R	K406R	Likely pathogenic	1	1	3	6
MUT:POU3F3:Pro207Leu	PROT:P20264	POU3F3	P	207	L	P207L	Pathogenic/Likely pathogenic	1	1	3	170
MUT:POU3F3:Pro292Gln	PROT:P20264	POU3F3	P	292	Q	P292Q	Benign/Likely benign	0	1	3	85
MUT:POU3F3:Ser389Ala	PROT:P20264	POU3F3	S	389	A	S389A	Likely pathogenic	1	1	3	4
MUT:POU3F3:Ser68Ala	PROT:P20264	POU3F3	S	68	A	S68A	Likely benign	0	1	3	309
MUT:POU3F3:Val452Gly	PROT:P20264	POU3F3	V	452	G	V452G	Likely pathogenic	1	1	3	40
MUT:POU3F4:Ala116Ser	PROT:P49335	POU3F4	A	116	S	A116S	Pathogenic	1	1	3	133
MUT:POU3F4:Ala312Glu	PROT:P49335	POU3F4	A	312	E	A312E	Likely pathogenic	1	1	3	28
MUT:POU3F4:Ala312Val	PROT:P49335	POU3F4	A	312	V	A312V	Pathogenic	1	1	3	28
MUT:POU3F4:Arg234Gly	PROT:P49335	POU3F4	R	234	G	R234G	Likely pathogenic	1	1	3	15
MUT:POU3F4:Arg234Trp	PROT:P49335	POU3F4	R	234	W	R234W	Likely pathogenic	1	1	3	15
MUT:POU3F4:Arg282Trp	PROT:P49335	POU3F4	R	282	W	R282W	Likely pathogenic	1	1	3	2
MUT:POU3F4:Arg323Gly	PROT:P49335	POU3F4	R	323	G	R323G	Pathogenic	1	1	3	39
MUT:POU3F4:Arg323His	PROT:P49335	POU3F4	R	323	H	R323H	Likely pathogenic	1	2	3	39
MUT:POU3F4:Arg329Gly	PROT:P49335	POU3F4	R	329	G	R329G	Likely pathogenic	1	1	3	45
MUT:POU3F4:Arg329Pro	PROT:P49335	POU3F4	R	329	P	R329P	Likely pathogenic	1	1	3	45
MUT:POU3F4:Arg330Ser	PROT:P49335	POU3F4	R	330	S	R330S	Pathogenic	1	1	3	46
MUT:POU3F4:Asn328Ser	PROT:P49335	POU3F4	N	328	S	N328S	Likely pathogenic	1	1	3	44
MUT:POU3F4:Glu257Lys	PROT:P49335	POU3F4	E	257	K	E257K	Likely pathogenic	1	1	3	8
MUT:POU3F4:Gly64Glu	PROT:P49335	POU3F4	G	64	E	G64E	Likely pathogenic	1	1	3	185
MUT:POU3F4:His147Gln	PROT:P49335	POU3F4	H	147	Q	H147Q	Pathogenic	1	1	3	102
MUT:POU3F4:Ile232Thr	PROT:P49335	POU3F4	I	232	T	I232T	Likely pathogenic	1	3	3	17
MUT:POU3F4:Ile308Asn	PROT:P49335	POU3F4	I	308	N	I308N	Likely pathogenic	1	1	3	24
MUT:POU3F4:Leu256Pro	PROT:P49335	POU3F4	L	256	P	L256P	Likely pathogenic	1	1	3	7
MUT:POU3F4:Leu311Gln	PROT:P49335	POU3F4	L	311	Q	L311Q	Likely pathogenic	1	1	3	27
MUT:POU3F4:Leu317Trp	PROT:P49335	POU3F4	L	317	W	L317W	Pathogenic	1	1	3	33
MUT:POU3F4:Lys334Glu	PROT:P49335	POU3F4	K	334	E	K334E	Likely pathogenic	1	1	3	50
MUT:POU3F4:Phe227Ser	PROT:P49335	POU3F4	F	227	S	F227S	Likely pathogenic	1	1	3	22
MUT:POU3F4:Phe326Ile	PROT:P49335	POU3F4	F	326	I	F326I	Pathogenic	1	1	3	42
MUT:POU3F4:Pro47Ser	PROT:P49335	POU3F4	P	47	S	P47S	Benign/Likely benign	0	2	3	202
MUT:POU3F4:Ser228Leu	PROT:P49335	POU3F4	S	228	L	S228L	Likely pathogenic	1	1	3	21
MUT:POU3F4:Val321Ala	PROT:P49335	POU3F4	V	321	A	V321A	Likely pathogenic	1	1	3	37
MUT:POU3F4:Val321Glu	PROT:P49335	POU3F4	V	321	E	V321E	Likely pathogenic	1	1	3	37
MUT:PPA2:Arg127Leu	PROT:Q9H2U2	PPA2	R	127	L	R127L	Pathogenic/Likely pathogenic	1	1	16	46
MUT:PPA2:Gln294Pro	PROT:Q9H2U2	PPA2	Q	294	P	Q294P	Pathogenic	1	1	16	18
MUT:PPA2:Glu172Lys	PROT:Q9H2U2	PPA2	E	172	K	E172K	Pathogenic/Likely pathogenic	1	2	16	4
MUT:PPA2:Leu18Arg	PROT:Q9H2U2	PPA2	L	18	R	L18R	Likely benign	0	1	16	8
MUT:PPA2:Leu18Met	PROT:Q9H2U2	PPA2	L	18	M	L18M	Likely benign	0	1	16	8
MUT:PPA2:Leu34Pro	PROT:Q9H2U2	PPA2	L	34	P	L34P	Likely benign	0	1	16	3
MUT:PPA2:Lys282Asn	PROT:Q9H2U2	PPA2	K	282	N	K282N	Benign	0	1	16	6
MUT:PPA2:Met106Ile	PROT:Q9H2U2	PPA2	M	106	I	M106I	Pathogenic	1	1	16	25
MUT:PPA2:Met94Val	PROT:Q9H2U2	PPA2	M	94	V	M94V	Pathogenic	1	1	16	13
MUT:PPA2:Pro167Leu	PROT:Q9H2U2	PPA2	P	167	L	P167L	Likely pathogenic	1	1	16	9
MUT:PPA2:Pro228Leu	PROT:Q9H2U2	PPA2	P	228	L	P228L	Pathogenic/Likely pathogenic	1	2	16	3
MUT:PPA2:Pro99Thr	PROT:Q9H2U2	PPA2	P	99	T	P99T	Likely pathogenic	1	1	16	18
MUT:PPA2:Ser61Phe	PROT:Q9H2U2	PPA2	S	61	F	S61F	Likely pathogenic	1	1	16	2
MUT:PPA2:Thr148Ser	PROT:Q9H2U2	PPA2	T	148	S	T148S	Likely pathogenic	1	2	16	28
MUT:PPA2:Thr159Met	PROT:Q9H2U2	PPA2	T	159	M	T159M	Pathogenic/Likely pathogenic	1	2	16	17
MUT:PPA2:Trp202Cys	PROT:Q9H2U2	PPA2	W	202	C	W202C	Likely pathogenic	1	2	16	22
MUT:PPAT:Arg351Trp	PROT:Q06203	PPAT	R	351	W	R351W	Likely benign	0	1	11	46
MUT:PPFIA1:Arg508Lys	PROT:Q13136	PPFIA1	R	508	K	R508K	Likely benign	0	1	38	12
MUT:PPFIA1:Asp362Gly	PROT:Q13136	PPFIA1	D	362	G	D362G	Likely benign	0	1	38	42
MUT:PPFIA1:Gln29His	PROT:Q13136	PPFIA1	Q	29	H	Q29H	Benign	0	1	38	109
MUT:PPFIA1:Val71Ile	PROT:Q13136	PPFIA1	V	71	I	V71I	Benign	0	1	38	67
MUT:PPFIA3:Ala315Ser	PROT:O75145	PPFIA3	A	315	S	A315S	Likely pathogenic	1	1	26	72
MUT:PPFIA3:Arg39Cys	PROT:O75145	PPFIA3	R	39	C	R39C	Pathogenic	1	1	26	36
MUT:PPFIA3:Arg415Trp	PROT:O75145	PPFIA3	R	415	W	R415W	Pathogenic/Likely pathogenic	1	2	26	28
MUT:PPFIA3:Arg429Trp	PROT:O75145	PPFIA3	R	429	W	R429W	Likely pathogenic	1	1	26	21
MUT:PPFIA3:Arg498Trp	PROT:O75145	PPFIA3	R	498	W	R498W	Likely pathogenic	1	2	26	10
MUT:PPFIA3:Arg559Trp	PROT:O75145	PPFIA3	R	559	W	R559W	Likely pathogenic	1	1	26	22
MUT:PPFIA3:Arg784Trp	PROT:O75145	PPFIA3	R	784	W	R784W	Pathogenic	1	1	26	10
MUT:PPFIA3:Glu40Lys	PROT:O75145	PPFIA3	E	40	K	E40K	Likely pathogenic	1	1	26	35
MUT:PPFIA3:Pro793Thr	PROT:O75145	PPFIA3	P	793	T	P793T	Likely benign	0	1	26	1
MUT:PPFIA3:Ser906Leu	PROT:O75145	PPFIA3	S	906	L	S906L	Pathogenic/Likely pathogenic	1	2	26	40
MUT:PPIB:Ala19Val	PROT:P23284	PPIB	A	19	V	A19V	Likely benign	0	1	10	28
MUT:PPIB:Gly105Arg	PROT:P23284	PPIB	G	105	R	G105R	Pathogenic/Likely pathogenic	1	2	10	7
MUT:PPIB:Gly170Asp	PROT:P23284	PPIB	G	170	D	G170D	Pathogenic	1	1	10	39
MUT:PPIB:Gly29Arg	PROT:P23284	PPIB	G	29	R	G29R	Benign/Likely benign	0	2	10	18
MUT:PPIB:His166Pro	PROT:P23284	PPIB	H	166	P	H166P	Likely pathogenic	1	1	10	37
MUT:PPIB:Met1Leu	PROT:P23284	PPIB	M	1	L	M1L	Likely pathogenic	1	1	10	46
MUT:PPIB:Met9Lys	PROT:P23284	PPIB	M	9	K	M9K	Likely pathogenic	1	1	10	38
MUT:PPIB:Met9Val	PROT:P23284	PPIB	M	9	V	M9V	Likely pathogenic	1	1	10	38
MUT:PPIL1:Ala99Thr	PROT:Q9Y3C6	PPIL1	A	99	T	A99T	Pathogenic/Likely pathogenic	1	2	8	19
MUT:PPIL1:Arg131Gln	PROT:Q9Y3C6	PPIL1	R	131	Q	R131Q	Likely pathogenic	1	1	8	6
MUT:PPIL1:Gly109Cys	PROT:Q9Y3C6	PPIL1	G	109	C	G109C	Likely pathogenic	1	1	8	16
MUT:PPIL1:Phe82Ser	PROT:Q9Y3C6	PPIL1	F	82	S	F82S	Likely pathogenic	1	1	8	2
MUT:PPIL1:Thr107Ala	PROT:Q9Y3C6	PPIL1	T	107	A	T107A	Pathogenic/Likely pathogenic	1	2	8	18
MUT:PPIL1:Tyr78Cys	PROT:Q9Y3C6	PPIL1	Y	78	C	Y78C	Likely pathogenic	1	1	8	0
MUT:PPIL2:Thr340Met	PROT:Q13356	PPIL2	T	340	M	T340M	Likely benign	0	1	6	27
MUT:PPM1D:Ala56Gly	PROT:O15297	PPM1D	A	56	G	A56G	Likely benign	0	1	9	2
MUT:PPM1D:Arg117Gly	PROT:O15297	PPM1D	R	117	G	R117G	Likely benign	0	1	9	20
MUT:PPM1D:Cys346Phe	PROT:O15297	PPM1D	C	346	F	C346F	Likely benign	0	1	9	123
MUT:PPM1D:Gly463Asp	PROT:O15297	PPM1D	G	463	D	G463D	Likely benign	0	1	9	6
MUT:PPM1D:Gly83Trp	PROT:O15297	PPM1D	G	83	W	G83W	Likely pathogenic	1	1	9	6
MUT:PPM1D:Leu578Phe	PROT:O15297	PPM1D	L	578	F	L578F	Benign/Likely benign	0	1	9	11
MUT:PPM1D:Thr517Ile	PROT:O15297	PPM1D	T	517	I	T517I	Likely benign	0	1	9	24
MUT:PPM1J:Leu213Phe	PROT:Q5JR12	PPM1J	L	213	F	L213F	Benign	0	4	1	67
MUT:PPP1R12A:Arg523Gln	PROT:O14974	PPP1R12A	R	523	Q	R523Q	Benign	0	1	44	14
MUT:PPP1R12A:Asp296Glu	PROT:O14974	PPP1R12A	D	296	E	D296E	Likely benign	0	1	44	8
MUT:PPP1R12A:Leu110Gln	PROT:O14974	PPP1R12A	L	110	Q	L110Q	Likely pathogenic	1	1	44	88
MUT:PPP1R12A:Met1003Leu	PROT:O14974	PPP1R12A	M	1003	L	M1003L	Likely benign	0	1	44	93
MUT:PPP1R12A:Ser554Phe	PROT:O14974	PPP1R12A	S	554	F	S554F	Likely benign	0	1	44	0
MUT:PPP1R12A:Thr778Ala	PROT:O14974	PPP1R12A	T	778	A	T778A	Likely benign	0	1	44	12
MUT:PPP1R13B:Arg72Gln	PROT:Q96KQ4	PPP1R13B	R	72	Q	R72Q	Benign	0	1	10	41
MUT:PPP1R13L:Gly92Ser	PROT:Q8WUF5	PPP1R13L	G	92	S	G92S	Likely benign	0	1	47	3
MUT:PPP1R13L:Phe79Cys	PROT:Q8WUF5	PPP1R13L	F	79	C	F79C	Likely benign	0	1	47	2
MUT:PPP1R18:Arg130Trp	PROT:Q6NYC8	PPP1R18	R	130	W	R130W	Benign	0	2	15	3
MUT:PPP1R21:Asn619Ser	PROT:Q6ZMI0	PPP1R21	N	619	S	N619S	Likely benign	0	1	7	25
MUT:PPP1R21:Leu699Pro	PROT:Q6ZMI0	PPP1R21	L	699	P	L699P	Pathogenic	1	1	7	37
MUT:PPP1R21:Leu75Arg	PROT:Q6ZMI0	PPP1R21	L	75	R	L75R	Pathogenic	1	1	7	8
MUT:PPP1R21:Lys88Glu	PROT:Q6ZMI0	PPP1R21	K	88	E	K88E	Likely benign	0	1	7	5
MUT:PPP1R21:Tyr500Cys	PROT:Q6ZMI0	PPP1R21	Y	500	C	Y500C	Likely benign	0	2	7	10
MUT:PPP1R21:Val226Ala	PROT:Q6ZMI0	PPP1R21	V	226	A	V226A	Likely benign	0	1	7	133
MUT:PPP1R21:Val437Ile	PROT:Q6ZMI0	PPP1R21	V	437	I	V437I	Likely benign	0	1	7	73
MUT:PPP1R9A:Ala1287Asp	PROT:Q9ULJ8	PPP1R9A	A	1287	D	A1287D	Likely benign	0	1	27	327
MUT:PPP1R9A:Arg1039Gln	PROT:Q9ULJ8	PPP1R9A	R	1039	Q	R1039Q	Benign	0	1	27	79
MUT:PPP1R9A:Arg1259Gln	PROT:Q9ULJ8	PPP1R9A	R	1259	Q	R1259Q	Benign/Likely benign	0	1	27	299
MUT:PPP1R9A:Arg917Cys	PROT:Q9ULJ8	PPP1R9A	R	917	C	R917C	Benign	0	1	27	2
MUT:PPP1R9A:Asn388His	PROT:Q9ULJ8	PPP1R9A	N	388	H	N388H	Likely benign	0	1	27	13
MUT:PPP1R9A:Asp368Asn	PROT:Q9ULJ8	PPP1R9A	D	368	N	D368N	Benign	0	1	27	7
MUT:PPP1R9A:Asp400Asn	PROT:Q9ULJ8	PPP1R9A	D	400	N	D400N	Likely benign	0	1	27	25
MUT:PPP1R9A:Gly827Ala	PROT:Q9ULJ8	PPP1R9A	G	827	A	G827A	Benign	0	1	27	13
MUT:PPP1R9A:Met1125Thr	PROT:Q9ULJ8	PPP1R9A	M	1125	T	M1125T	Likely benign	0	1	27	165
MUT:PPP1R9A:Met331Val	PROT:Q9ULJ8	PPP1R9A	M	331	V	M331V	Benign	0	1	27	3
MUT:PPP1R9A:Ser1079Asn	PROT:Q9ULJ8	PPP1R9A	S	1079	N	S1079N	Benign	0	1	27	119
MUT:PPP1R9A:Ser1098Asn	PROT:Q9ULJ8	PPP1R9A	S	1098	N	S1098N	Benign	0	6	27	138
MUT:PPP1R9B:Arg364Ser	PROT:Q96SB3	PPP1R9B	R	364	S	R364S	Likely benign	0	1	1	292
MUT:PPP1R9B:Arg584Gln	PROT:Q96SB3	PPP1R9B	R	584	Q	R584Q	Likely benign	0	1	1	72
MUT:PPP1R9B:Glu363Asp	PROT:Q96SB3	PPP1R9B	E	363	D	E363D	Benign	0	1	1	293
MUT:PPP1R9B:Pro424Leu	PROT:Q96SB3	PPP1R9B	P	424	L	P424L	Likely benign	0	1	1	232
MUT:PPP2CA:Ala102Val	PROT:P67775	PPP2CA	A	102	V	A102V	Likely benign	0	1	20	16
MUT:PPP2CA:Asn271Asp	PROT:P67775	PPP2CA	N	271	D	N271D	Likely pathogenic	1	1	20	6
MUT:PPP2CA:Asp131His	PROT:P67775	PPP2CA	D	131	H	D131H	Likely pathogenic	1	1	20	4
MUT:PPP2CA:Asp223His	PROT:P67775	PPP2CA	D	223	H	D223H	Pathogenic/Likely pathogenic	1	1	20	11
MUT:PPP2CA:Asp223Val	PROT:P67775	PPP2CA	D	223	V	D223V	Likely pathogenic	1	1	20	11
MUT:PPP2CA:Asp88Gly	PROT:P67775	PPP2CA	D	88	G	D88G	Pathogenic/Likely pathogenic	1	1	20	2
MUT:PPP2CA:Cys266Arg	PROT:P67775	PPP2CA	C	266	R	C266R	Likely pathogenic	1	1	20	1
MUT:PPP2CA:Gln122His	PROT:P67775	PPP2CA	Q	122	H	Q122H	Likely pathogenic	1	1	20	5
MUT:PPP2CA:Gln125Lys	PROT:P67775	PPP2CA	Q	125	K	Q125K	Likely pathogenic	1	1	20	2
MUT:PPP2CA:Gln242Glu	PROT:P67775	PPP2CA	Q	242	E	Q242E	Pathogenic	1	1	20	6
MUT:PPP2CA:His191Arg	PROT:P67775	PPP2CA	H	191	R	H191R	Pathogenic/Likely pathogenic	1	1	20	21
MUT:PPP2CA:His241Arg	PROT:P67775	PPP2CA	H	241	R	H241R	Likely pathogenic	1	1	20	7
MUT:PPP2CA:Tyr127Cys	PROT:P67775	PPP2CA	Y	127	C	Y127C	Likely pathogenic	1	1	20	0
MUT:PPP2CA:Tyr265Cys	PROT:P67775	PPP2CA	Y	265	C	Y265C	Likely pathogenic	1	1	20	0
MUT:PPP2CA:Val45Met	PROT:P67775	PPP2CA	V	45	M	V45M	Likely pathogenic	1	1	20	4
MUT:PPP2CB:Ser43Leu	PROT:P62714	PPP2CB	S	43	L	S43L	Likely benign	0	1	8	22
MUT:PPP2R1B:Asn559Tyr	PROT:P30154	PPP2R1B	N	559	Y	N559Y	Likely benign	0	1	17	1
MUT:PPP2R1B:Asp667Val	PROT:P30154	PPP2R1B	D	667	V	D667V	Likely benign	0	1	17	109
MUT:PPP2R1B:Gly90Asp	PROT:P30154	PPP2R1B	G	90	D	G90D	Pathogenic	1	1	17	29
MUT:PPP2R1B:Ile595Val	PROT:P30154	PPP2R1B	I	595	V	I595V	Likely benign	0	4	17	37
MUT:PPP2R1B:Val545Leu	PROT:P30154	PPP2R1B	V	545	L	V545L	Benign	0	1	17	9
MUT:PPP2R2B:Ala191Ser	PROT:Q00005	PPP2R2B	A	191	S	A191S	Likely benign	0	1	5	1
MUT:PPP2R2B:Ile50Met	PROT:Q00005	PPP2R2B	I	50	M	I50M	Likely benign	0	1	5	65
MUT:PPP2R2B:Thr222Met	PROT:Q00005	PPP2R2B	T	222	M	T222M	Likely benign	0	1	5	9
MUT:PPP2R2B:Thr7Ser	PROT:Q00005	PPP2R2B	T	7	S	T7S	Benign	0	1	5	108
MUT:PRDM6:Ala291Thr	PROT:Q9NQX0	PRDM6	A	291	T	A291T	Benign	0	1	2	259
MUT:PRDM6:Arg549Gln	PROT:Q9NQX0	PRDM6	R	549	Q	R549Q	Pathogenic	1	1	2	1
MUT:PRDM6:Cys263Ser	PROT:Q9NQX0	PRDM6	C	263	S	C263S	Pathogenic	1	1	2	287
MUT:PRDM6:Gln462Arg	PROT:Q9NQX0	PRDM6	Q	462	R	Q462R	Pathogenic	1	1	2	88
MUT:PRDM6:Gly333Arg	PROT:Q9NQX0	PRDM6	G	333	R	G333R	Likely benign	0	1	2	217
MUT:PRDM6:Leu43Pro	PROT:Q9NQX0	PRDM6	L	43	P	L43P	Likely benign	0	1	2	507
MUT:PRDM6:Pro47Arg	PROT:Q9NQX0	PRDM6	P	47	R	P47R	Likely benign	0	1	2	503
MUT:PRDM6:Ser38Gly	PROT:Q9NQX0	PRDM6	S	38	G	S38G	Likely benign	0	1	2	512
MUT:PRDM6:Val419Ile	PROT:Q9NQX0	PRDM6	V	419	I	V419I	Benign	0	1	2	131
MUT:PREPL:Asn23Ser	PROT:Q4J6C6	PREPL	N	23	S	N23S	Likely benign	0	1	12	72
MUT:PREPL:Asn278Ser	PROT:Q4J6C6	PREPL	N	278	S	N278S	Likely benign	0	1	12	110
MUT:PREPL:Asn501Ser	PROT:Q4J6C6	PREPL	N	501	S	N501S	Benign	0	10	12	22
MUT:PREPL:Asn50Ser	PROT:Q4J6C6	PREPL	N	50	S	N50S	Benign/Likely benign	0	2	12	45
MUT:PREPL:Glu619Lys	PROT:Q4J6C6	PREPL	E	619	K	E619K	Benign/Likely benign	0	1	12	42
MUT:PREPL:Lys532Arg	PROT:Q4J6C6	PREPL	K	532	R	K532R	Likely benign	0	1	12	53
MUT:PREPL:Lys609Asn	PROT:Q4J6C6	PREPL	K	609	N	K609N	Likely pathogenic	1	2	12	52
MUT:PREPL:Met306Thr	PROT:Q4J6C6	PREPL	M	306	T	M306T	Likely benign	0	1	12	104
MUT:PREPL:Ser101Arg	PROT:Q4J6C6	PREPL	S	101	R	S101R	Benign	0	1	12	2
MUT:PREPL:Thr507Lys	PROT:Q4J6C6	PREPL	T	507	K	T507K	Likely benign	0	1	12	28
MUT:PREPL:Thr588Ala	PROT:Q4J6C6	PREPL	T	588	A	T588A	Likely benign	0	1	12	73
MUT:PREPL:Val387Ile	PROT:Q4J6C6	PREPL	V	387	I	V387I	Likely benign	0	1	12	23
MUT:PREX2:Ala1119Thr	PROT:Q70Z35	PREX2	A	1119	T	A1119T	Likely pathogenic	1	1	6	12
MUT:PREX2:Arg1230Gln	PROT:Q70Z35	PREX2	R	1230	Q	R1230Q	Benign	0	1	6	123
MUT:PREX2:Arg1394Trp	PROT:Q70Z35	PREX2	R	1394	W	R1394W	Benign	0	1	6	287
MUT:PREX2:Asp312Asn	PROT:Q70Z35	PREX2	D	312	N	D312N	Likely benign	0	1	6	37
MUT:PREX2:Ile1218Val	PROT:Q70Z35	PREX2	I	1218	V	I1218V	Benign	0	1	6	111
MUT:PREX2:Met1298Leu	PROT:Q70Z35	PREX2	M	1298	L	M1298L	Likely benign	0	1	6	191
MUT:PREX2:Pro1599Leu	PROT:Q70Z35	PREX2	P	1599	L	P1599L	Benign	0	1	6	492
MUT:PREX2:Ser1488Leu	PROT:Q70Z35	PREX2	S	1488	L	S1488L	Benign	0	1	6	381
MUT:PREX2:Ser977Leu	PROT:Q70Z35	PREX2	S	977	L	S977L	Likely benign	0	1	6	130
MUT:PREX2:Thr706Ser	PROT:Q70Z35	PREX2	T	706	S	T706S	Benign	0	1	6	27
MUT:PRG4:Ala641Thr	PROT:Q92954	PRG4	A	641	T	A641T	Likely benign	0	1	11	44
MUT:PRG4:Ala888Val	PROT:Q92954	PRG4	A	888	V	A888V	Likely benign	0	1	11	15
MUT:PRG4:Arg180Trp	PROT:Q92954	PRG4	R	180	W	R180W	Benign	0	1	11	103
MUT:PRG4:Arg62Lys	PROT:Q92954	PRG4	R	62	K	R62K	Likely benign	0	1	11	15
MUT:PRG4:Glu403Lys	PROT:Q92954	PRG4	E	403	K	E403K	Likely benign	0	1	11	24
MUT:PRG4:Glu481Lys	PROT:Q92954	PRG4	E	481	K	E481K	Likely benign	0	1	11	37
MUT:PRG4:Glu505Lys	PROT:Q92954	PRG4	E	505	K	E505K	Likely benign	0	1	11	13
MUT:PRG4:Glu630Lys	PROT:Q92954	PRG4	E	630	K	E630K	Likely benign	0	1	11	33
MUT:PRG4:Gly897Ser	PROT:Q92954	PRG4	G	897	S	G897S	Likely benign	0	1	11	6
MUT:PRG4:Leu632Pro	PROT:Q92954	PRG4	L	632	P	L632P	Likely benign	0	1	11	35
MUT:PRG4:Leu880Phe	PROT:Q92954	PRG4	L	880	F	L880F	Likely benign	0	1	11	23
MUT:PRG4:Lys1086Glu	PROT:Q92954	PRG4	K	1086	E	K1086E	Likely benign	0	1	11	159
MUT:PRG4:Lys575Glu	PROT:Q92954	PRG4	K	575	E	K575E	Likely benign	0	1	11	5
MUT:PRG4:Lys817Glu	PROT:Q92954	PRG4	K	817	E	K817E	Likely benign	0	1	11	86
MUT:PRG4:Pro1111Ser	PROT:Q92954	PRG4	P	1111	S	P1111S	Likely benign	0	1	11	184
MUT:PRG4:Pro212Ser	PROT:Q92954	PRG4	P	212	S	P212S	Likely benign	0	1	11	135
MUT:PRG4:Ser743Pro	PROT:Q92954	PRG4	S	743	P	S743P	Likely benign	0	1	11	146
MUT:PRG4:Thr1119Ile	PROT:Q92954	PRG4	T	1119	I	T1119I	Likely benign	0	1	11	192
MUT:PRG4:Thr1296Met	PROT:Q92954	PRG4	T	1296	M	T1296M	Benign	0	1	11	69
MUT:PRG4:Thr238Met	PROT:Q92954	PRG4	T	238	M	T238M	Benign	0	1	11	161
MUT:PRG4:Thr557Pro	PROT:Q92954	PRG4	T	557	P	T557P	Likely benign	0	1	11	13
MUT:PRG4:Thr604Ala	PROT:Q92954	PRG4	T	604	A	T604A	Benign	0	1	11	7
MUT:PRKAA2:Gln250Arg	PROT:P54646	PRKAA2	Q	250	R	Q250R	Likely benign	0	1	21	10
MUT:PRKAA2:Thr243Ile	PROT:P54646	PRKAA2	T	243	I	T243I	Likely benign	0	1	21	17
MUT:PRKACA:Gly137Arg	PROT:P17612	PRKACA	G	137	R	G137R	Pathogenic/Likely pathogenic	1	1	23	3
MUT:PRKACA:Leu206Arg	PROT:P17612	PRKACA	L	206	R	L206R	Pathogenic/Likely pathogenic	1	3	23	1
MUT:PRKACB:Gly282Arg	PROT:P22694	PRKACB	G	282	R	G282R	Pathogenic	1	1	18	11
MUT:PRKACB:His135Arg	PROT:P22694	PRKACB	H	135	R	H135R	Pathogenic	1	1	18	42
MUT:PRKACB:His135Asn	PROT:P22694	PRKACB	H	135	N	H135N	Pathogenic	1	1	18	42
MUT:PRKACB:His135Leu	PROT:P22694	PRKACB	H	135	L	H135L	Pathogenic	1	1	18	42
MUT:PRKACB:Lys333Glu	PROT:P22694	PRKACB	K	333	E	K333E	Likely pathogenic	1	1	18	6
MUT:PRKACB:Ser101Leu	PROT:P22694	PRKACB	S	101	L	S101L	Pathogenic	1	1	18	8
MUT:PRKAG1:Lys330Asn	PROT:P54619	PRKAG1	K	330	N	K330N	Likely benign	0	1	8	46
MUT:PRKAG2:Ala238Thr	PROT:Q9UGJ0	PRKAG2	A	238	T	A238T	Benign/Likely benign	0	3	40	15
MUT:PRKAG2:Arg302Gln	PROT:Q9UGJ0	PRKAG2	R	302	Q	R302Q	Pathogenic	1	7	40	7
MUT:PRKAG2:Arg302Pro	PROT:Q9UGJ0	PRKAG2	R	302	P	R302P	Pathogenic/Likely pathogenic	1	1	40	7
MUT:PRKAG2:Arg384Gly	PROT:Q9UGJ0	PRKAG2	R	384	G	R384G	Likely pathogenic	1	1	40	75
MUT:PRKAG2:Arg384Thr	PROT:Q9UGJ0	PRKAG2	R	384	T	R384T	Pathogenic	1	1	40	75
MUT:PRKAG2:Arg531Gln	PROT:Q9UGJ0	PRKAG2	R	531	Q	R531Q	Pathogenic	1	3	40	56
MUT:PRKAG2:Arg531Gly	PROT:Q9UGJ0	PRKAG2	R	531	G	R531G	Pathogenic	1	1	40	56
MUT:PRKAG2:Arg531Trp	PROT:Q9UGJ0	PRKAG2	R	531	W	R531W	Likely pathogenic	1	1	40	56
MUT:PRKAG2:Asn488Ile	PROT:Q9UGJ0	PRKAG2	N	488	I	N488I	Pathogenic	1	1	40	13
MUT:PRKAG2:Gln111Lys	PROT:Q9UGJ0	PRKAG2	Q	111	K	Q111K	Likely benign	0	2	40	2
MUT:PRKAG2:Glu342Asp	PROT:Q9UGJ0	PRKAG2	E	342	D	E342D	Pathogenic	1	1	40	33
MUT:PRKAG2:Glu506Gln	PROT:Q9UGJ0	PRKAG2	E	506	Q	E506Q	Likely pathogenic	1	2	40	31
MUT:PRKAG2:Glu506Lys	PROT:Q9UGJ0	PRKAG2	E	506	K	E506K	Pathogenic	1	1	40	31
MUT:PRKAG2:Gly158Ser	PROT:Q9UGJ0	PRKAG2	G	158	S	G158S	Likely benign	0	2	40	1
MUT:PRKAG2:Gly68Ser	PROT:Q9UGJ0	PRKAG2	G	68	S	G68S	Likely benign	0	2	40	3
MUT:PRKAG2:His182Gln	PROT:Q9UGJ0	PRKAG2	H	182	Q	H182Q	Likely benign	0	1	40	2
MUT:PRKAG2:His344Tyr	PROT:Q9UGJ0	PRKAG2	H	344	Y	H344Y	Likely pathogenic	1	1	40	35
MUT:PRKAG2:His401Asp	PROT:Q9UGJ0	PRKAG2	H	401	D	H401D	Likely pathogenic	1	1	40	74
MUT:PRKAG2:His530Arg	PROT:Q9UGJ0	PRKAG2	H	530	R	H530R	Pathogenic	1	3	40	55
MUT:PRKAG2:His530Asp	PROT:Q9UGJ0	PRKAG2	H	530	D	H530D	Pathogenic	1	1	40	55
MUT:PRKAG2:Leu341Ser	PROT:Q9UGJ0	PRKAG2	L	341	S	L341S	Likely pathogenic	1	1	40	32
MUT:PRKAG2:Lys290Ile	PROT:Q9UGJ0	PRKAG2	K	290	I	K290I	Pathogenic	1	1	40	19
MUT:PRKAG2:Lys485Glu	PROT:Q9UGJ0	PRKAG2	K	485	E	K485E	Pathogenic	1	1	40	10
MUT:PRKAG2:Met89Val	PROT:Q9UGJ0	PRKAG2	M	89	V	M89V	Likely benign	0	2	40	1
MUT:PRKAG2:Phe293Leu	PROT:Q9UGJ0	PRKAG2	F	293	L	F293L	Pathogenic/Likely pathogenic	1	3	40	16
MUT:PRKAG2:Phe323Ile	PROT:Q9UGJ0	PRKAG2	F	323	I	F323I	Likely pathogenic	1	1	40	14
MUT:PRKAG2:Pro136Ala	PROT:Q9UGJ0	PRKAG2	P	136	A	P136A	Likely benign	0	1	40	1
MUT:PRKAG2:Ser16Thr	PROT:Q9UGJ0	PRKAG2	S	16	T	S16T	Likely benign	0	1	40	7
MUT:PRKAG2:Ser20Ile	PROT:Q9UGJ0	PRKAG2	S	20	I	S20I	Benign	0	5	40	11
MUT:PRKAG2:Ser333Pro	PROT:Q9UGJ0	PRKAG2	S	333	P	S333P	Pathogenic	1	1	40	24
MUT:PRKAG2:Ser548Ala	PROT:Q9UGJ0	PRKAG2	S	548	A	S548A	Likely pathogenic	1	1	40	73
MUT:PRKAG2:Thr104Ala	PROT:Q9UGJ0	PRKAG2	T	104	A	T104A	Likely benign	0	1	40	3
MUT:PRKAG2:Thr400Asn	PROT:Q9UGJ0	PRKAG2	T	400	N	T400N	Likely pathogenic	1	3	40	75
MUT:PRKAG2:Val336Ala	PROT:Q9UGJ0	PRKAG2	V	336	A	V336A	Pathogenic	1	1	40	27
MUT:PRKAR1B:Arg306Gln	PROT:P31321	PRKAR1B	R	306	Q	R306Q	Likely pathogenic	1	1	18	32
MUT:PRKAR1B:Arg333Gln	PROT:P31321	PRKAR1B	R	333	Q	R333Q	Likely benign	0	1	18	5
MUT:PRKAR1B:Arg335Trp	PROT:P31321	PRKAR1B	R	335	W	R335W	Pathogenic/Likely pathogenic	1	2	18	3
MUT:PRKAR1B:Asn309Thr	PROT:P31321	PRKAR1B	N	309	T	N309T	Likely pathogenic	1	1	18	29
MUT:PRKAR1B:Gln167Leu	PROT:P31321	PRKAR1B	Q	167	L	Q167L	Pathogenic	1	1	18	55
MUT:PRKAR1B:Val302Met	PROT:P31321	PRKAR1B	V	302	M	V302M	Pathogenic	1	1	18	36
MUT:PRKCB:Asn298Ser	PROT:P05771	PRKCB	N	298	S	N298S	Likely benign	0	1	40	13
MUT:PRKCB:Gly92Val	PROT:P05771	PRKCB	G	92	V	G92V	Pathogenic	1	1	40	1
MUT:PRKCD:Arg132His	PROT:Q05655	PRKCD	R	132	H	R132H	Likely benign	0	1	52	1
MUT:PRKCD:Arg300Gln	PROT:Q05655	PRKCD	R	300	Q	R300Q	Likely benign	0	1	52	1
MUT:PRKCD:Asp228Asn	PROT:Q05655	PRKCD	D	228	N	D228N	Likely benign	0	1	52	6
MUT:PRKCD:Cys415Tyr	PROT:Q05655	PRKCD	C	415	Y	C415Y	Likely benign	0	1	52	36
MUT:PRKCD:Gly358Asp	PROT:Q05655	PRKCD	G	358	D	G358D	Likely pathogenic	1	1	52	1
MUT:PRKCD:Gly510Ser	PROT:Q05655	PRKCD	G	510	S	G510S	Pathogenic	1	1	52	1
MUT:PRKCD:Val72Leu	PROT:Q05655	PRKCD	V	72	L	V72L	Benign	0	1	52	8
MUT:PRKCH:Pro612Ser	PROT:P24723	PRKCH	P	612	S	P612S	Likely benign	0	1	17	11
MUT:PRKCH:Val374Ile	PROT:P24723	PRKCH	V	374	I	V374I	Benign	0	1	17	14
MUT:PRKD2:Ala191Val	PROT:Q9BZL6	PRKD2	A	191	V	A191V	Likely benign	0	1	29	2
MUT:PRKD2:Ala494Thr	PROT:Q9BZL6	PRKD2	A	494	T	A494T	Likely benign	0	1	29	24
MUT:PRKG2:Asp544Tyr	PROT:Q13237	PRKG2	D	544	Y	D544Y	Likely pathogenic	1	1	3	113
MUT:PRKG2:Met180Ile	PROT:Q13237	PRKG2	M	180	I	M180I	Likely benign	0	1	3	49
MUT:PRKG2:Val470Gly	PROT:Q13237	PRKG2	V	470	G	V470G	Likely pathogenic	1	1	3	39
MUT:PRKN:Ala46Thr	PROT:O60260	PRKN	A	46	T	A46T	Benign/Likely benign	0	1	16	2
MUT:PRKN:Ala82Glu	PROT:O60260	PRKN	A	82	E	A82E	Benign/Likely benign	0	1	16	6
MUT:PRKN:Ala91Thr	PROT:O60260	PRKN	A	91	T	A91T	Likely benign	0	1	16	15
MUT:PRKN:Arg275Trp	PROT:O60260	PRKN	R	275	W	R275W	Pathogenic/Likely pathogenic	1	5	16	21
MUT:PRKN:Arg33Gln	PROT:O60260	PRKN	R	33	Q	R33Q	Pathogenic/Likely pathogenic	1	2	16	6
MUT:PRKN:Arg42Pro	PROT:O60260	PRKN	R	42	P	R42P	Pathogenic	1	1	16	6
MUT:PRKN:Asp394Asn	PROT:O60260	PRKN	D	394	N	D394N	Benign/Likely benign	0	1	16	16
MUT:PRKN:Asp62Glu	PROT:O60260	PRKN	D	62	E	D62E	Likely benign	0	1	16	3
MUT:PRKN:Cys212Tyr	PROT:O60260	PRKN	C	212	Y	C212Y	Pathogenic	1	1	16	19
MUT:PRKN:Cys253Tyr	PROT:O60260	PRKN	C	253	Y	C253Y	Pathogenic/Likely pathogenic	1	2	16	43
MUT:PRKN:Cys431Phe	PROT:O60260	PRKN	C	431	F	C431F	Pathogenic	1	1	16	4
MUT:PRKN:Cys441Arg	PROT:O60260	PRKN	C	441	R	C441R	Pathogenic/Likely pathogenic	1	1	16	6
MUT:PRKN:Gln34Arg	PROT:O60260	PRKN	Q	34	R	Q34R	Benign/Likely benign	0	1	16	7
MUT:PRKN:Gly284Arg	PROT:O60260	PRKN	G	284	R	G284R	Pathogenic	1	2	16	12
MUT:PRKN:Gly430Asp	PROT:O60260	PRKN	G	430	D	G430D	Pathogenic/Likely pathogenic	1	4	16	5
MUT:PRKN:Lys161Asn	PROT:O60260	PRKN	K	161	N	K161N	Pathogenic	1	1	16	18
MUT:PRKN:Lys211Asn	PROT:O60260	PRKN	K	211	N	K211N	Pathogenic/Likely pathogenic	1	2	16	18
MUT:PRKN:Met192Leu	PROT:O60260	PRKN	M	192	L	M192L	Benign	0	1	16	1
MUT:PRKN:Met1Thr	PROT:O60260	PRKN	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	16	8
MUT:PRKN:Met1Val	PROT:O60260	PRKN	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	16	8
MUT:PRKN:Met434Thr	PROT:O60260	PRKN	M	434	T	M434T	Likely pathogenic	1	1	16	1
MUT:PRKN:Pro153Arg	PROT:O60260	PRKN	P	153	R	P153R	Benign/Likely benign	0	1	16	10
MUT:PRKN:Ser167Asn	PROT:O60260	PRKN	S	167	N	S167N	Benign/Likely benign	0	1	16	24
MUT:PRKN:Thr240Arg	PROT:O60260	PRKN	T	240	R	T240R	Pathogenic	1	1	16	47
MUT:PRKN:Val380Leu	PROT:O60260	PRKN	V	380	L	V380L	Benign	0	1	16	2
MUT:PRKN:Val56Glu	PROT:O60260	PRKN	V	56	E	V56E	Pathogenic/Likely pathogenic	1	1	16	8
MUT:PRLR:Glu175Lys	PROT:P16471	PRLR	E	175	K	E175K	Likely benign	0	1	5	174
MUT:PRLR:His212Arg	PROT:P16471	PRLR	H	212	R	H212R	Pathogenic	1	1	5	137
MUT:PRLR:Leu284Trp	PROT:P16471	PRLR	L	284	W	L284W	Likely pathogenic	1	1	5	65
MUT:PRLR:Pro269Leu	PROT:P16471	PRLR	P	269	L	P269L	Pathogenic	1	1	5	80
MUT:PRMT6:Ala194Val	PROT:Q96LA8	PRMT6	A	194	V	A194V	Benign	0	1	4	21
MUT:PRMT6:Leu9Val	PROT:Q96LA8	PRMT6	L	9	V	L9V	Likely benign	0	1	4	2
MUT:PRMT7:Ala655Val	PROT:Q9NVM4	PRMT7	A	655	V	A655V	Likely benign	0	1	6	198
MUT:PRMT7:Arg164Gly	PROT:Q9NVM4	PRMT7	R	164	G	R164G	Likely benign	0	1	6	117
MUT:PRMT7:Arg274Gln	PROT:Q9NVM4	PRMT7	R	274	Q	R274Q	Likely benign	0	1	6	170
MUT:PRMT7:Arg32Thr	PROT:Q9NVM4	PRMT7	R	32	T	R32T	Likely pathogenic	1	1	6	10
MUT:PRMT7:Arg360His	PROT:Q9NVM4	PRMT7	R	360	H	R360H	Benign/Likely benign	0	1	6	84
MUT:PRMT7:Arg387Gly	PROT:Q9NVM4	PRMT7	R	387	G	R387G	Likely pathogenic	1	1	6	57
MUT:PRMT7:Cys366Tyr	PROT:Q9NVM4	PRMT7	C	366	Y	C366Y	Pathogenic	1	1	6	78
MUT:PRMT7:Cys407Tyr	PROT:Q9NVM4	PRMT7	C	407	Y	C407Y	Likely pathogenic	1	1	6	37
MUT:PRMT7:Gln309His	PROT:Q9NVM4	PRMT7	Q	309	H	Q309H	Likely pathogenic	1	1	6	135
MUT:PRMT7:Glu597Lys	PROT:Q9NVM4	PRMT7	E	597	K	E597K	Benign	0	1	6	140
MUT:PRMT7:His313Tyr	PROT:Q9NVM4	PRMT7	H	313	Y	H313Y	Likely pathogenic	1	1	6	131
MUT:PRMT7:Ile116Asn	PROT:Q9NVM4	PRMT7	I	116	N	I116N	Likely pathogenic	1	1	6	69
MUT:PRMT7:Pro691Leu	PROT:Q9NVM4	PRMT7	P	691	L	P691L	Likely benign	0	1	6	234
MUT:PRMT7:Thr271Ala	PROT:Q9NVM4	PRMT7	T	271	A	T271A	Likely benign	0	1	6	173
MUT:PRMT7:Thr428Arg	PROT:Q9NVM4	PRMT7	T	428	R	T428R	Likely pathogenic	1	1	6	16
MUT:PRMT7:Val600Met	PROT:Q9NVM4	PRMT7	V	600	M	V600M	Likely benign	0	1	6	143
MUT:PRMT9:Gly189Arg	PROT:Q6P2P2	PRMT9	G	189	R	G189R	Pathogenic	1	1	7	8
MUT:PRNP:Ala117Val	PROT:P04156	PRNP	A	117	V	A117V	Pathogenic	1	2	5	28
MUT:PRNP:Ala118Val	PROT:P04156	PRNP	A	118	V	A118V	Likely pathogenic	1	1	5	27
MUT:PRNP:Ala133Val	PROT:P04156	PRNP	A	133	V	A133V	Pathogenic	1	1	5	12
MUT:PRNP:Arg148His	PROT:P04156	PRNP	R	148	H	R148H	Likely pathogenic	1	2	5	3
MUT:PRNP:Arg208His	PROT:P04156	PRNP	R	208	H	R208H	Pathogenic/Likely pathogenic	1	3	5	4
MUT:PRNP:Asn171Ser	PROT:P04156	PRNP	N	171	S	N171S	Benign	0	3	5	23
MUT:PRNP:Asp178Asn	PROT:P04156	PRNP	D	178	N	D178N	Pathogenic/Likely pathogenic	1	2	5	16
MUT:PRNP:Gln217Arg	PROT:P04156	PRNP	Q	217	R	Q217R	Likely pathogenic	1	3	5	1
MUT:PRNP:Glu200Lys	PROT:P04156	PRNP	E	200	K	E200K	Pathogenic	1	3	5	4
MUT:PRNP:Glu211Gln	PROT:P04156	PRNP	E	211	Q	E211Q	Pathogenic	1	1	5	7
MUT:PRNP:Glu219Lys	PROT:P04156	PRNP	E	219	K	E219K	Benign	0	3	5	1
MUT:PRNP:Gly131Glu	PROT:P04156	PRNP	G	131	E	G131E	Likely pathogenic	1	1	5	14
MUT:PRNP:Gly131Val	PROT:P04156	PRNP	G	131	V	G131V	Pathogenic/Likely pathogenic	1	2	5	14
MUT:PRNP:Gly142Ser	PROT:P04156	PRNP	G	142	S	G142S	Benign/Likely benign	0	2	5	3
MUT:PRNP:Gly54Ser	PROT:P04156	PRNP	G	54	S	G54S	Benign/Likely benign	0	2	5	11
MUT:PRNP:His187Arg	PROT:P04156	PRNP	H	187	R	H187R	Pathogenic	1	2	5	7
MUT:PRNP:Leu234Phe	PROT:P04156	PRNP	L	234	F	L234F	Likely benign	0	1	5	16
MUT:PRNP:Met129Val	PROT:P04156	PRNP	M	129	V	M129V	Benign/Likely benign	0	5	5	16
MUT:PRNP:Phe198Ser	PROT:P04156	PRNP	F	198	S	F198S	Pathogenic	1	2	5	4
MUT:PRNP:Pro102Leu	PROT:P04156	PRNP	P	102	L	P102L	Pathogenic	1	4	5	43
MUT:PRNP:Pro102Ser	PROT:P04156	PRNP	P	102	S	P102S	Likely pathogenic	1	1	5	43
MUT:PRNP:Pro105Leu	PROT:P04156	PRNP	P	105	L	P105L	Pathogenic	1	1	5	40
MUT:PRNP:Pro105Thr	PROT:P04156	PRNP	P	105	T	P105T	Pathogenic	1	1	5	40
MUT:PRNP:Thr183Ala	PROT:P04156	PRNP	T	183	A	T183A	Pathogenic	1	2	5	11
MUT:PRNP:Thr188Arg	PROT:P04156	PRNP	T	188	R	T188R	Likely pathogenic	1	2	5	6
MUT:PRODH2:Ala35Val	PROT:Q9UF12	PRODH2	A	35	V	A35V	Likely benign	0	1	1	228
MUT:PRODH2:Arg229Gln	PROT:Q9UF12	PRODH2	R	229	Q	R229Q	Likely benign	0	1	1	34
MUT:PRODH2:Asn200Ser	PROT:Q9UF12	PRODH2	N	200	S	N200S	Benign	0	1	1	63
MUT:PRODH2:Ser197Cys	PROT:Q9UF12	PRODH2	S	197	C	S197C	Likely benign	0	1	1	66
MUT:PROKR1:Lys230Thr	PROT:Q8TCW9	PROKR1	K	230	T	K230T	Likely benign	0	1	1	121
MUT:PROS1:Ala139Val	PROT:P07225	PROS1	A	139	V	A139V	Likely benign	0	1	8	17
MUT:PROS1:Arg355Cys	PROT:P07225	PROS1	R	355	C	R355C	Pathogenic/Likely pathogenic	1	2	8	89
MUT:PROS1:Arg355His	PROT:P07225	PROS1	R	355	H	R355H	Likely pathogenic	1	1	8	89
MUT:PROS1:Arg515Cys	PROT:P07225	PROS1	R	515	C	R515C	Likely pathogenic	1	1	8	249
MUT:PROS1:Arg515Pro	PROT:P07225	PROS1	R	515	P	R515P	Likely pathogenic	1	1	8	249
MUT:PROS1:Arg561Trp	PROT:P07225	PROS1	R	561	W	R561W	Pathogenic	1	1	8	295
MUT:PROS1:Asn258Ser	PROT:P07225	PROS1	N	258	S	N258S	Pathogenic	1	1	8	1
MUT:PROS1:Asn418Tyr	PROT:P07225	PROS1	N	418	Y	N418Y	Likely pathogenic	1	1	8	152
MUT:PROS1:Asp278Tyr	PROT:P07225	PROS1	D	278	Y	D278Y	Likely pathogenic	1	1	8	12
MUT:PROS1:Asp376Asn	PROT:P07225	PROS1	D	376	N	D376N	Likely pathogenic	1	2	8	110
MUT:PROS1:Asp406Asn	PROT:P07225	PROS1	D	406	N	D406N	Likely benign	0	1	8	140
MUT:PROS1:Cys186Arg	PROT:P07225	PROS1	C	186	R	C186R	Likely pathogenic	1	1	8	64
MUT:PROS1:Cys186Tyr	PROT:P07225	PROS1	C	186	Y	C186Y	Pathogenic/Likely pathogenic	1	2	8	64
MUT:PROS1:Cys199Arg	PROT:P07225	PROS1	C	199	R	C199R	Likely pathogenic	1	1	8	60
MUT:PROS1:Cys228Trp	PROT:P07225	PROS1	C	228	W	C228W	Likely pathogenic	1	1	8	31
MUT:PROS1:Cys247Ser	PROT:P07225	PROS1	C	247	S	C247S	Pathogenic	1	1	8	12
MUT:PROS1:Cys256Ser	PROT:P07225	PROS1	C	256	S	C256S	Likely pathogenic	1	1	8	3
MUT:PROS1:Cys475Phe	PROT:P07225	PROS1	C	475	F	C475F	Pathogenic	1	2	8	209
MUT:PROS1:Cys639Tyr	PROT:P07225	PROS1	C	639	Y	C639Y	Pathogenic/Likely pathogenic	1	2	8	373
MUT:PROS1:Cys666Arg	PROT:P07225	PROS1	C	666	R	C666R	Pathogenic	1	1	8	400
MUT:PROS1:Gln362Arg	PROT:P07225	PROS1	Q	362	R	Q362R	Likely pathogenic	1	1	8	96
MUT:PROS1:Gly487Arg	PROT:P07225	PROS1	G	487	R	G487R	Likely pathogenic	1	1	8	221
MUT:PROS1:Gly52Arg	PROT:P07225	PROS1	G	52	R	G52R	Likely pathogenic	1	1	8	3
MUT:PROS1:Gly621Val	PROT:P07225	PROS1	G	621	V	G621V	Likely pathogenic	1	1	8	355
MUT:PROS1:Ile562Leu	PROT:P07225	PROS1	I	562	L	I562L	Likely pathogenic	1	1	8	296
MUT:PROS1:Leu446Pro	PROT:P07225	PROS1	L	446	P	L446P	Likely pathogenic	1	2	8	180
MUT:PROS1:Lys196Glu	PROT:P07225	PROS1	K	196	E	K196E	Pathogenic	1	3	8	63
MUT:PROS1:Met1Ile	PROT:P07225	PROS1	M	1	I	M1I	Pathogenic	1	1	8	48
MUT:PROS1:Met1Leu	PROT:P07225	PROS1	M	1	L	M1L	Pathogenic	1	1	8	48
MUT:PROS1:Met1Val	PROT:P07225	PROS1	M	1	V	M1V	Pathogenic	1	1	8	48
MUT:PROS1:Met640Thr	PROT:P07225	PROS1	M	640	T	M640T	Pathogenic	1	1	8	374
MUT:PROS1:Phe635Ser	PROT:P07225	PROS1	F	635	S	F635S	Likely pathogenic	1	1	8	369
MUT:PROS1:Phe72Ser	PROT:P07225	PROS1	F	72	S	F72S	Likely pathogenic	1	1	8	6
MUT:PROS1:Pro118Leu	PROT:P07225	PROS1	P	118	L	P118L	Likely pathogenic	1	1	8	4
MUT:PROS1:Ser324Pro	PROT:P07225	PROS1	S	324	P	S324P	Likely pathogenic	1	1	8	58
MUT:PROSER1:Val557Ile	PROT:Q86XN7	PROSER1	V	557	I	V557I	Likely benign	0	1	5	56
MUT:PRPF31:Ala194Glu	PROT:Q8WWY3	PRPF31	A	194	E	A194E	Pathogenic	1	1	25	11
MUT:PRPF31:Ala216Pro	PROT:Q8WWY3	PRPF31	A	216	P	A216P	Pathogenic	1	1	25	3
MUT:PRPF31:Ala216Thr	PROT:Q8WWY3	PRPF31	A	216	T	A216T	Likely pathogenic	1	1	25	3
MUT:PRPF31:Ala303Asp	PROT:Q8WWY3	PRPF31	A	303	D	A303D	Likely pathogenic	1	1	25	4
MUT:PRPF31:Cys299Arg	PROT:Q8WWY3	PRPF31	C	299	R	C299R	Pathogenic/Likely pathogenic	1	4	25	1
MUT:PRPF31:Gln255Leu	PROT:Q8WWY3	PRPF31	Q	255	L	Q255L	Likely pathogenic	1	1	25	18
MUT:PRPF31:Gly253Arg	PROT:Q8WWY3	PRPF31	G	253	R	G253R	Pathogenic/Likely pathogenic	1	1	25	20
MUT:PRPF31:Met1Ile	PROT:Q8WWY3	PRPF31	M	1	I	M1I	Likely pathogenic	1	1	25	52
MUT:PRPF31:Met1Leu	PROT:Q8WWY3	PRPF31	M	1	L	M1L	Likely pathogenic	1	1	25	52
MUT:PRPF31:Met1Val	PROT:Q8WWY3	PRPF31	M	1	V	M1V	Pathogenic	1	1	25	52
MUT:PRPF3:Ala489Asp	PROT:O43395	PRPF3	A	489	D	A489D	Pathogenic	1	1	28	5
MUT:PRPF3:Ala502Pro	PROT:O43395	PRPF3	A	502	P	A502P	Likely pathogenic	1	1	28	8
MUT:PRPF3:Arg449Gly	PROT:O43395	PRPF3	R	449	G	R449G	Pathogenic/Likely pathogenic	1	1	28	17
MUT:PRPF3:Asp429Tyr	PROT:O43395	PRPF3	D	429	Y	D429Y	Pathogenic	1	1	28	3
MUT:PRPF3:His499Pro	PROT:O43395	PRPF3	H	499	P	H499P	Pathogenic	1	1	28	5
MUT:PRPF3:His511Pro	PROT:O43395	PRPF3	H	511	P	H511P	Likely pathogenic	1	1	28	17
MUT:PRPF3:Met469Ile	PROT:O43395	PRPF3	M	469	I	M469I	Benign/Likely benign	0	1	28	25
MUT:PRPF3:Pro493Ser	PROT:O43395	PRPF3	P	493	S	P493S	Pathogenic	1	2	28	1
MUT:PRPF3:Thr326Ala	PROT:O43395	PRPF3	T	326	A	T326A	Likely benign	0	1	28	24
MUT:PRPF3:Thr494Met	PROT:O43395	PRPF3	T	494	M	T494M	Pathogenic	1	4	28	0
MUT:PRPF3:Val633Leu	PROT:O43395	PRPF3	V	633	L	V633L	Benign	0	1	28	14
MUT:PRPF4:Pro314Leu	PROT:O43172	PRPF4	P	314	L	P314L	Likely pathogenic	1	2	10	74
MUT:PRPF6:Arg936Cys	PROT:O94906	PRPF6	R	936	C	R936C	Benign/Likely benign	0	1	45	11
MUT:PRPF6:Asp184His	PROT:O94906	PRPF6	D	184	H	D184H	Likely pathogenic	1	1	45	4
MUT:PRPF6:Val915Met	PROT:O94906	PRPF6	V	915	M	V915M	Benign/Likely benign	0	1	45	2
MUT:PRPH:Ala277Thr	PROT:P41219	PRPH	A	277	T	A277T	Likely benign	0	1	6	128
MUT:PRPH:Arg9Gln	PROT:P41219	PRPH	R	9	Q	R9Q	Benign	0	1	6	41
MUT:PRR14L:Arg1910Gln	PROT:Q5THK1	PRR14L	R	1910	Q	R1910Q	Likely benign	0	1	14	38
MUT:PRR4:Arg96Gln	PROT:Q16378	PRR4	R	96	Q	R96Q	Benign	0	1	1	7
MUT:PRR4:Gln120Arg	PROT:Q16378	PRR4	Q	120	R	Q120R	Benign	0	1	1	17
MUT:PRRC2A:Ala1283Thr	PROT:P48634	PRRC2A	A	1283	T	A1283T	Benign	0	1	82	23
MUT:PRRC2A:Arg1563Gln	PROT:P48634	PRRC2A	R	1563	Q	R1563Q	Benign	0	1	82	9
MUT:PRRC2A:Arg1740His	PROT:P48634	PRRC2A	R	1740	H	R1740H	Benign	0	1	82	24
MUT:PRRC2A:Arg2075Trp	PROT:P48634	PRRC2A	R	2075	W	R2075W	Benign	0	1	82	1
MUT:PRRC2A:Arg804Cys	PROT:P48634	PRRC2A	R	804	C	R804C	Benign	0	1	82	4
MUT:PRRC2A:Asp1766Gly	PROT:P48634	PRRC2A	D	1766	G	D1766G	Benign	0	1	82	2
MUT:PRRC2A:Glu974Gln	PROT:P48634	PRRC2A	E	974	Q	E974Q	Likely benign	0	1	82	1
MUT:PRRC2A:Gly1285Ala	PROT:P48634	PRRC2A	G	1285	A	G1285A	Benign	0	1	82	21
MUT:PRRC2A:Gly1416Ser	PROT:P48634	PRRC2A	G	1416	S	G1416S	Benign	0	1	82	16
MUT:PRRC2A:Ile937Met	PROT:P48634	PRRC2A	I	937	M	I937M	Benign	0	1	82	29
MUT:PRRC2A:Leu1503Pro	PROT:P48634	PRRC2A	L	1503	P	L1503P	Benign	0	1	82	14
MUT:PRRC2A:Leu1895Val	PROT:P48634	PRRC2A	L	1895	V	L1895V	Benign	0	2	82	131
MUT:PRRC2A:Leu1980Ile	PROT:P48634	PRRC2A	L	1980	I	L1980I	Benign	0	1	82	56
MUT:PRRC2A:Phe2083Ser	PROT:P48634	PRRC2A	F	2083	S	F2083S	Benign	0	1	82	1
MUT:PRRC2A:Pro106Leu	PROT:P48634	PRRC2A	P	106	L	P106L	Benign	0	1	82	8
MUT:PRRC2A:Pro1592Leu	PROT:P48634	PRRC2A	P	1592	L	P1592L	Likely benign	0	1	82	15
MUT:PRRC2A:Pro1687Leu	PROT:P48634	PRRC2A	P	1687	L	P1687L	Likely benign	0	1	82	3
MUT:PRRC2A:Pro2006Ser	PROT:P48634	PRRC2A	P	2006	S	P2006S	Benign	0	1	82	30
MUT:PRRC2A:Pro2130Leu	PROT:P48634	PRRC2A	P	2130	L	P2130L	Benign	0	1	82	7
MUT:PRRC2A:Pro515Leu	PROT:P48634	PRRC2A	P	515	L	P515L	Benign	0	1	82	2
MUT:PRRC2A:Pro559Ser	PROT:P48634	PRRC2A	P	559	S	P559S	Benign	0	1	82	42
MUT:PRRC2A:Ser1219Tyr	PROT:P48634	PRRC2A	S	1219	Y	S1219Y	Benign	0	1	82	0
MUT:PRRC2A:Ser1407Asn	PROT:P48634	PRRC2A	S	1407	N	S1407N	Benign	0	1	82	20
MUT:PRRC2A:Ser163Leu	PROT:P48634	PRRC2A	S	163	L	S163L	Benign	0	1	82	0
MUT:PRRC2A:Ser1808Phe	PROT:P48634	PRRC2A	S	1808	F	S1808F	Benign	0	1	82	44
MUT:PRRC2A:Ser1905Pro	PROT:P48634	PRRC2A	S	1905	P	S1905P	Benign	0	1	82	131
MUT:PRRC2A:Thr544Lys	PROT:P48634	PRRC2A	T	544	K	T544K	Benign	0	1	82	27
MUT:PRRC2A:Val1774Met	PROT:P48634	PRRC2A	V	1774	M	V1774M	Benign	0	1	82	10
MUT:PRRG4:Glu33Lys	PROT:Q9BZD6	PRRG4	E	33	K	E33K	Benign	0	1	5	5
MUT:PRRG4:Pro176Gln	PROT:Q9BZD6	PRRG4	P	176	Q	P176Q	Benign	0	1	5	24
MUT:PRRG4:Ser151Thr	PROT:Q9BZD6	PRRG4	S	151	T	S151T	Likely benign	0	1	5	49
MUT:PRRG4:Ser151Tyr	PROT:Q9BZD6	PRRG4	S	151	Y	S151Y	Likely benign	0	1	5	49
MUT:PRUNE1:Arg128Gln	PROT:Q86TP1	PRUNE1	R	128	Q	R128Q	Pathogenic/Likely pathogenic	1	2	5	72
MUT:PRUNE1:Arg297Trp	PROT:Q86TP1	PRUNE1	R	297	W	R297W	Pathogenic	1	1	5	75
MUT:PRUNE1:Asp106Asn	PROT:Q86TP1	PRUNE1	D	106	N	D106N	Pathogenic/Likely pathogenic	1	2	5	94
MUT:PRUNE1:Asp30Asn	PROT:Q86TP1	PRUNE1	D	30	N	D30N	Pathogenic/Likely pathogenic	1	2	5	170
MUT:PRUNE1:Cys135Tyr	PROT:Q86TP1	PRUNE1	C	135	Y	C135Y	Benign	0	1	5	65
MUT:PRUNE1:Glu154Lys	PROT:Q86TP1	PRUNE1	E	154	K	E154K	Benign	0	1	5	46
MUT:PRUNE1:Leu172Pro	PROT:Q86TP1	PRUNE1	L	172	P	L172P	Pathogenic	1	1	5	28
MUT:PRUNE1:Met1Ile	PROT:Q86TP1	PRUNE1	M	1	I	M1I	Likely pathogenic	1	1	5	199
MUT:PRUNE1:Pro353Arg	PROT:Q86TP1	PRUNE1	P	353	R	P353R	Benign/Likely benign	0	1	5	46
MUT:PRUNE1:Pro54Thr	PROT:Q86TP1	PRUNE1	P	54	T	P54T	Pathogenic	1	1	5	146
MUT:PRUNE1:Ser15Phe	PROT:Q86TP1	PRUNE1	S	15	F	S15F	Benign	0	1	5	185
MUT:PRUNE1:Val246Ile	PROT:Q86TP1	PRUNE1	V	246	I	V246I	Benign	0	1	5	24
MUT:PSD3:Arg342Cys	PROT:Q9NYI0	PSD3	R	342	C	R342C	Likely benign	0	1	9	117
MUT:PSD3:Asp113Val	PROT:Q9NYI0	PSD3	D	113	V	D113V	Likely benign	0	1	9	112
MUT:PSD3:Thr522Ile	PROT:Q9NYI0	PSD3	T	522	I	T522I	Likely benign	0	1	9	106
MUT:PSEN2:Ala85Val	PROT:P49810	PSEN2	A	85	V	A85V	Pathogenic	1	1	12	19
MUT:PSEN2:Arg435Trp	PROT:P49810	PSEN2	R	435	W	R435W	Likely benign	0	1	12	100
MUT:PSEN2:Arg62His	PROT:P49810	PSEN2	R	62	H	R62H	Benign/Likely benign	0	3	12	4
MUT:PSEN2:Arg71Trp	PROT:P49810	PSEN2	R	71	W	R71W	Benign/Likely benign	0	2	12	5
MUT:PSEN2:Asn141Ile	PROT:P49810	PSEN2	N	141	I	N141I	Pathogenic	1	1	12	26
MUT:PSEN2:Glu54Asp	PROT:P49810	PSEN2	E	54	D	E54D	Benign/Likely benign	0	1	12	5
MUT:PSEN2:His169Asn	PROT:P49810	PSEN2	H	169	N	H169N	Benign/Likely benign	0	1	12	54
MUT:PSEN2:Met174Val	PROT:P49810	PSEN2	M	174	V	M174V	Benign/Likely benign	0	1	12	59
MUT:PSEN2:Met239Ile	PROT:P49810	PSEN2	M	239	I	M239I	Pathogenic	1	1	12	88
MUT:PSEN2:Met239Val	PROT:P49810	PSEN2	M	239	V	M239V	Pathogenic	1	1	12	88
MUT:PSEN2:Ser130Leu	PROT:P49810	PSEN2	S	130	L	S130L	Benign/Likely benign	0	4	12	15
MUT:PSEN2:Ser175Phe	PROT:P49810	PSEN2	S	175	F	S175F	Pathogenic	1	1	12	60
MUT:PSEN2:Thr122Arg	PROT:P49810	PSEN2	T	122	R	T122R	Pathogenic	1	1	12	7
MUT:PSEN2:Thr122Pro	PROT:P49810	PSEN2	T	122	P	T122P	Pathogenic/Likely pathogenic	1	1	12	7
MUT:PSEN2:Thr388Met	PROT:P49810	PSEN2	T	388	M	T388M	Likely benign	0	1	12	53
MUT:PSEN2:Val214Leu	PROT:P49810	PSEN2	V	214	L	V214L	Benign/Likely benign	0	1	12	99
MUT:PSIP1:Leu478Val	PROT:O75475	PSIP1	L	478	V	L478V	Benign	0	2	41	18
MUT:PSMA6:Arg5Trp	PROT:P60900	PSMA6	R	5	W	R5W	Benign	0	1	24	0
MUT:PSMB10:Asp56His	PROT:P40306	PSMB10	D	56	H	D56H	Pathogenic	1	1	1	180
MUT:PSMB10:Gly167Asp	PROT:P40306	PSMB10	G	167	D	G167D	Pathogenic	1	1	1	69
MUT:PSMB10:Gly201Arg	PROT:P40306	PSMB10	G	201	R	G201R	Pathogenic	1	1	1	35
MUT:PSMB10:Phe14Ser	PROT:P40306	PSMB10	F	14	S	F14S	Pathogenic	1	1	1	222
MUT:PSMB9:Arg173Cys	PROT:P28065	PSMB9	R	173	C	R173C	Likely benign	0	18	4	42
MUT:PSMB9:Arg60His	PROT:P28065	PSMB9	R	60	H	R60H	Benign/Likely benign	0	2	4	49
MUT:PSMB9:Gly156Asp	PROT:P28065	PSMB9	G	156	D	G156D	Pathogenic	1	2	4	47
MUT:PSMB9:Gly9Glu	PROT:P28065	PSMB9	G	9	E	G9E	Likely benign	0	1	4	1
MUT:PSMB9:Val32Ile	PROT:P28065	PSMB9	V	32	I	V32I	Benign/Likely benign	0	1	4	24
MUT:PSMC3:Ala237Val	PROT:P17980	PSMC3	A	237	V	A237V	Pathogenic	1	1	26	4
MUT:PSMC3:Arg304Gly	PROT:P17980	PSMC3	R	304	G	R304G	Pathogenic	1	1	26	10
MUT:PSMC3:Arg304Trp	PROT:P17980	PSMC3	R	304	W	R304W	Pathogenic	1	1	26	10
MUT:PSMC3:Glu305Asp	PROT:P17980	PSMC3	E	305	D	E305D	Pathogenic	1	1	26	11
MUT:PSMC3:Glu383Lys	PROT:P17980	PSMC3	E	383	K	E383K	Pathogenic	1	1	26	32
MUT:PSMC3:Gly262Arg	PROT:P17980	PSMC3	G	262	R	G262R	Pathogenic	1	1	26	4
MUT:PSMC3:Lys155Arg	PROT:P17980	PSMC3	K	155	R	K155R	Likely pathogenic	1	1	26	8
MUT:PSMC3:Met259Ile	PROT:P17980	PSMC3	M	259	I	M259I	Pathogenic	1	1	26	7
MUT:PSMC3:Met259Val	PROT:P17980	PSMC3	M	259	V	M259V	Pathogenic	1	1	26	7
MUT:PSMC3:Met310Thr	PROT:P17980	PSMC3	M	310	T	M310T	Likely pathogenic	1	1	26	16
MUT:PSMC3IP:Arg108His	PROT:Q9P2W1	PSMC3IP	R	108	H	R108H	Likely benign	0	1	1	79
MUT:PSMC3IP:Asp216Asn	PROT:Q9P2W1	PSMC3IP	D	216	N	D216N	Likely benign	0	1	1	187
MUT:PSMC3IP:Phe72Ser	PROT:Q9P2W1	PSMC3IP	F	72	S	F72S	Pathogenic	1	1	1	43
MUT:PSMG2:Arg83Gly	PROT:Q969U7	PSMG2	R	83	G	R83G	Benign/Likely benign	0	4	3	28
MUT:PSTPIP1:Ala230Thr	PROT:O43586	PSTPIP1	A	230	T	A230T	Pathogenic	1	2	3	30
MUT:PSTPIP1:Ala382Thr	PROT:O43586	PSTPIP1	A	382	T	A382T	Benign/Likely benign	0	2	3	49
MUT:PSTPIP1:Arg340Trp	PROT:O43586	PSTPIP1	R	340	W	R340W	Likely benign	0	1	3	7
MUT:PSTPIP1:Asp384Gly	PROT:O43586	PSTPIP1	D	384	G	D384G	Benign/Likely benign	0	2	3	51
MUT:PSTPIP1:Gln219His	PROT:O43586	PSTPIP1	Q	219	H	Q219H	Benign/Likely benign	0	2	3	41
MUT:PSTPIP1:Glu250Gln	PROT:O43586	PSTPIP1	E	250	Q	E250Q	Pathogenic	1	1	3	10
MUT:PSTPIP1:Glu250Lys	PROT:O43586	PSTPIP1	E	250	K	E250K	Pathogenic	1	2	3	10
MUT:PSTPIP1:Glu257Lys	PROT:O43586	PSTPIP1	E	257	K	E257K	Pathogenic	1	1	3	3
MUT:PSTPIP1:Gly258Ala	PROT:O43586	PSTPIP1	G	258	A	G258A	Benign/Likely benign	0	2	3	2
MUT:PSTPIP1:Pro303Leu	PROT:O43586	PSTPIP1	P	303	L	P303L	Benign/Likely benign	0	2	3	30
MUT:PSTPIP1:Ser267Gly	PROT:O43586	PSTPIP1	S	267	G	S267G	Benign/Likely benign	0	1	3	7
MUT:PSTPIP1:Ser79Phe	PROT:O43586	PSTPIP1	S	79	F	S79F	Benign/Likely benign	0	2	3	16
MUT:PSTPIP1:Thr371Ile	PROT:O43586	PSTPIP1	T	371	I	T371I	Benign/Likely benign	0	2	3	38
MUT:PSTPIP1:Thr68Met	PROT:O43586	PSTPIP1	T	68	M	T68M	Benign/Likely benign	0	3	3	5
MUT:PTBP1:Arg14Gln	PROT:P26599	PTBP1	R	14	Q	R14Q	Pathogenic	1	2	30	1
MUT:PTBP1:Lys46Thr	PROT:P26599	PTBP1	K	46	T	K46T	Pathogenic	1	2	30	5
MUT:PTBP1:Lys48Asn	PROT:P26599	PTBP1	K	48	N	K48N	Pathogenic	1	1	30	3
MUT:PTBP1:Met1Arg	PROT:P26599	PTBP1	M	1	R	M1R	Pathogenic	1	2	30	0
MUT:PTBP1:Met1Ile	PROT:P26599	PTBP1	M	1	I	M1I	Pathogenic	1	2	30	0
MUT:PTBP1:Met1Leu	PROT:P26599	PTBP1	M	1	L	M1L	Pathogenic	1	2	30	0
MUT:PTBP1:Met1Lys	PROT:P26599	PTBP1	M	1	K	M1K	Pathogenic	1	2	30	0
MUT:PTBP1:Met1Thr	PROT:P26599	PTBP1	M	1	T	M1T	Pathogenic	1	2	30	0
MUT:PTCD1:Arg103Cys	PROT:O75127	PTCD1	R	103	C	R103C	Benign	0	1	3	62
MUT:PTCH1:Ala1061Thr	PROT:Q13635	PTCH1	A	1061	T	A1061T	Likely benign	0	1	5	68
MUT:PTCH1:Ala1088Thr	PROT:Q13635	PTCH1	A	1088	T	A1088T	Benign/Likely benign	0	2	5	95
MUT:PTCH1:Ala1115Val	PROT:Q13635	PTCH1	A	1115	V	A1115V	Benign/Likely benign	0	2	5	80
MUT:PTCH1:Ala119Thr	PROT:Q13635	PTCH1	A	119	T	A119T	Benign	0	1	5	44
MUT:PTCH1:Ala1265Thr	PROT:Q13635	PTCH1	A	1265	T	A1265T	Likely benign	0	2	5	68
MUT:PTCH1:Ala306Thr	PROT:Q13635	PTCH1	A	306	T	A306T	Likely benign	0	2	5	143
MUT:PTCH1:Ala393Thr	PROT:Q13635	PTCH1	A	393	T	A393T	Benign/Likely benign	0	4	5	230
MUT:PTCH1:Ala507Val	PROT:Q13635	PTCH1	A	507	V	A507V	Likely benign	0	1	5	344
MUT:PTCH1:Ala741Val	PROT:Q13635	PTCH1	A	741	V	A741V	Benign/Likely benign	0	3	5	252
MUT:PTCH1:Arg1114Trp	PROT:Q13635	PTCH1	R	1114	W	R1114W	Pathogenic	1	1	5	81
MUT:PTCH1:Arg1206Cys	PROT:Q13635	PTCH1	R	1206	C	R1206C	Likely benign	0	2	5	9
MUT:PTCH1:Arg1239Gln	PROT:Q13635	PTCH1	R	1239	Q	R1239Q	Likely benign	0	2	5	42
MUT:PTCH1:Arg1239Trp	PROT:Q13635	PTCH1	R	1239	W	R1239W	Likely benign	0	2	5	42
MUT:PTCH1:Arg1297Trp	PROT:Q13635	PTCH1	R	1297	W	R1297W	Likely benign	0	3	5	100
MUT:PTCH1:Arg1303Cys	PROT:Q13635	PTCH1	R	1303	C	R1303C	Benign/Likely benign	0	4	5	106
MUT:PTCH1:Arg1342His	PROT:Q13635	PTCH1	R	1342	H	R1342H	Benign/Likely benign	0	3	5	83
MUT:PTCH1:Arg1350Gly	PROT:Q13635	PTCH1	R	1350	G	R1350G	Benign	0	1	5	75
MUT:PTCH1:Arg1350Trp	PROT:Q13635	PTCH1	R	1350	W	R1350W	Benign/Likely benign	0	4	5	75
MUT:PTCH1:Arg1391Gln	PROT:Q13635	PTCH1	R	1391	Q	R1391Q	Likely benign	0	2	5	34
MUT:PTCH1:Arg1391Trp	PROT:Q13635	PTCH1	R	1391	W	R1391W	Likely benign	0	3	5	34
MUT:PTCH1:Arg1419Gln	PROT:Q13635	PTCH1	R	1419	Q	R1419Q	Likely benign	0	2	5	6
MUT:PTCH1:Arg195Lys	PROT:Q13635	PTCH1	R	195	K	R195K	Pathogenic	1	1	5	32
MUT:PTCH1:Arg255Gln	PROT:Q13635	PTCH1	R	255	Q	R255Q	Likely benign	0	2	5	92
MUT:PTCH1:Arg294Pro	PROT:Q13635	PTCH1	R	294	P	R294P	Likely benign	0	1	5	131
MUT:PTCH1:Arg332Gly	PROT:Q13635	PTCH1	R	332	G	R332G	Likely benign	0	1	5	169
MUT:PTCH1:Arg34Thr	PROT:Q13635	PTCH1	R	34	T	R34T	Benign	0	2	5	129
MUT:PTCH1:Arg536Gly	PROT:Q13635	PTCH1	R	536	G	R536G	Likely benign	0	1	5	373
MUT:PTCH1:Arg665His	PROT:Q13635	PTCH1	R	665	H	R665H	Benign/Likely benign	0	2	5	328
MUT:PTCH1:Arg682Cys	PROT:Q13635	PTCH1	R	682	C	R682C	Likely benign	0	3	5	311
MUT:PTCH1:Arg73Gly	PROT:Q13635	PTCH1	R	73	G	R73G	Benign	0	1	5	90
MUT:PTCH1:Arg770Gln	PROT:Q13635	PTCH1	R	770	Q	R770Q	Benign/Likely benign	0	2	5	223
MUT:PTCH1:Arg893His	PROT:Q13635	PTCH1	R	893	H	R893H	Benign/Likely benign	0	3	5	100
MUT:PTCH1:Asn388Ser	PROT:Q13635	PTCH1	N	388	S	N388S	Likely benign	0	1	5	225
MUT:PTCH1:Asn636Asp	PROT:Q13635	PTCH1	N	636	D	N636D	Likely benign	0	2	5	357
MUT:PTCH1:Asp436Asn	PROT:Q13635	PTCH1	D	436	N	D436N	Benign/Likely benign	0	5	5	273
MUT:PTCH1:Asp48Tyr	PROT:Q13635	PTCH1	D	48	Y	D48Y	Likely benign	0	3	5	115
MUT:PTCH1:Asp635Gly	PROT:Q13635	PTCH1	D	635	G	D635G	Benign	0	1	5	358
MUT:PTCH1:Asp717Asn	PROT:Q13635	PTCH1	D	717	N	D717N	Benign/Likely benign	0	2	5	276
MUT:PTCH1:Asp821Asn	PROT:Q13635	PTCH1	D	821	N	D821N	Benign	0	2	5	172
MUT:PTCH1:Asp898Asn	PROT:Q13635	PTCH1	D	898	N	D898N	Benign/Likely benign	0	4	5	95
MUT:PTCH1:Asp954Asn	PROT:Q13635	PTCH1	D	954	N	D954N	Likely benign	0	2	5	39
MUT:PTCH1:Cys1420Arg	PROT:Q13635	PTCH1	C	1420	R	C1420R	Likely benign	0	2	5	5
MUT:PTCH1:Cys304Arg	PROT:Q13635	PTCH1	C	304	R	C304R	Likely pathogenic	1	1	5	141
MUT:PTCH1:Cys488Arg	PROT:Q13635	PTCH1	C	488	R	C488R	Likely pathogenic	1	1	5	325
MUT:PTCH1:Cys727Arg	PROT:Q13635	PTCH1	C	727	R	C727R	Likely benign	0	2	5	266
MUT:PTCH1:Gln413Arg	PROT:Q13635	PTCH1	Q	413	R	Q413R	Benign/Likely benign	0	2	5	250
MUT:PTCH1:Gln501Arg	PROT:Q13635	PTCH1	Q	501	R	Q501R	Pathogenic/Likely pathogenic	1	1	5	338
MUT:PTCH1:Gln905Arg	PROT:Q13635	PTCH1	Q	905	R	Q905R	Likely benign	0	1	5	88
MUT:PTCH1:Glu1183Asp	PROT:Q13635	PTCH1	E	1183	D	E1183D	Likely pathogenic	1	1	5	12
MUT:PTCH1:Glu1242Lys	PROT:Q13635	PTCH1	E	1242	K	E1242K	Benign/Likely benign	0	2	5	45
MUT:PTCH1:Glu127Asp	PROT:Q13635	PTCH1	E	127	D	E127D	Likely benign	0	2	5	36
MUT:PTCH1:Glu237Lys	PROT:Q13635	PTCH1	E	237	K	E237K	Likely pathogenic	1	1	5	74
MUT:PTCH1:Glu44Gly	PROT:Q13635	PTCH1	E	44	G	E44G	Benign/Likely benign	0	1	5	119
MUT:PTCH1:Glu684Lys	PROT:Q13635	PTCH1	E	684	K	E684K	Benign/Likely benign	0	3	5	309
MUT:PTCH1:Glu724Lys	PROT:Q13635	PTCH1	E	724	K	E724K	Benign/Likely benign	0	2	5	269
MUT:PTCH1:Glu989Lys	PROT:Q13635	PTCH1	E	989	K	E989K	Likely benign	0	2	5	4
MUT:PTCH1:Gly1023Ser	PROT:Q13635	PTCH1	G	1023	S	G1023S	Benign/Likely benign	0	2	5	30
MUT:PTCH1:Gly1069Arg	PROT:Q13635	PTCH1	G	1069	R	G1069R	Likely pathogenic	1	1	5	76
MUT:PTCH1:Gly1093Arg	PROT:Q13635	PTCH1	G	1093	R	G1093R	Pathogenic	1	1	5	100
MUT:PTCH1:Gly1136Arg	PROT:Q13635	PTCH1	G	1136	R	G1136R	Pathogenic/Likely pathogenic	1	1	5	59
MUT:PTCH1:Gly1163Arg	PROT:Q13635	PTCH1	G	1163	R	G1163R	Likely pathogenic	1	1	5	32
MUT:PTCH1:Gly1163Val	PROT:Q13635	PTCH1	G	1163	V	G1163V	Likely pathogenic	1	2	5	32
MUT:PTCH1:Gly1167Arg	PROT:Q13635	PTCH1	G	1167	R	G1167R	Pathogenic	1	2	5	28
MUT:PTCH1:Gly1212Ser	PROT:Q13635	PTCH1	G	1212	S	G1212S	Benign/Likely benign	0	4	5	15
MUT:PTCH1:Gly1217Glu	PROT:Q13635	PTCH1	G	1217	E	G1217E	Benign	0	1	5	20
MUT:PTCH1:Gly1299Asp	PROT:Q13635	PTCH1	G	1299	D	G1299D	Benign	0	1	5	102
MUT:PTCH1:Gly1363Ser	PROT:Q13635	PTCH1	G	1363	S	G1363S	Likely benign	0	3	5	62
MUT:PTCH1:Gly1407Ser	PROT:Q13635	PTCH1	G	1407	S	G1407S	Benign/Likely benign	0	2	5	18
MUT:PTCH1:Gly29Val	PROT:Q13635	PTCH1	G	29	V	G29V	Likely benign	0	1	5	134
MUT:PTCH1:Gly31Glu	PROT:Q13635	PTCH1	G	31	E	G31E	Benign/Likely benign	0	2	5	132
MUT:PTCH1:Gly344Asp	PROT:Q13635	PTCH1	G	344	D	G344D	Likely benign	0	1	5	181
MUT:PTCH1:Gly37Arg	PROT:Q13635	PTCH1	G	37	R	G37R	Benign/Likely benign	0	3	5	126
MUT:PTCH1:Gly484Arg	PROT:Q13635	PTCH1	G	484	R	G484R	Pathogenic	1	1	5	321
MUT:PTCH1:Gly509Arg	PROT:Q13635	PTCH1	G	509	R	G509R	Pathogenic	1	1	5	346
MUT:PTCH1:Gly509Asp	PROT:Q13635	PTCH1	G	509	D	G509D	Pathogenic/Likely pathogenic	1	2	5	346
MUT:PTCH1:Gly509Val	PROT:Q13635	PTCH1	G	509	V	G509V	Pathogenic/Likely pathogenic	1	3	5	346
MUT:PTCH1:Gly511Arg	PROT:Q13635	PTCH1	G	511	R	G511R	Likely pathogenic	1	1	5	348
MUT:PTCH1:Gly91Arg	PROT:Q13635	PTCH1	G	91	R	G91R	Likely pathogenic	1	1	5	72
MUT:PTCH1:His1266Tyr	PROT:Q13635	PTCH1	H	1266	Y	H1266Y	Benign	0	1	5	69
MUT:PTCH1:His634Tyr	PROT:Q13635	PTCH1	H	634	Y	H634Y	Likely benign	0	1	5	359
MUT:PTCH1:His739Tyr	PROT:Q13635	PTCH1	H	739	Y	H739Y	Likely benign	0	2	5	254
MUT:PTCH1:His944Arg	PROT:Q13635	PTCH1	H	944	R	H944R	Benign	0	1	5	49
MUT:PTCH1:Ile1158Phe	PROT:Q13635	PTCH1	I	1158	F	I1158F	Benign/Likely benign	0	2	5	37
MUT:PTCH1:Ile1255Thr	PROT:Q13635	PTCH1	I	1255	T	I1255T	Likely benign	0	1	5	58
MUT:PTCH1:Ile21Leu	PROT:Q13635	PTCH1	I	21	L	I21L	Benign	0	2	5	142
MUT:PTCH1:Ile395Val	PROT:Q13635	PTCH1	I	395	V	I395V	Likely benign	0	3	5	232
MUT:PTCH1:Ile897Val	PROT:Q13635	PTCH1	I	897	V	I897V	Benign/Likely benign	0	2	5	96
MUT:PTCH1:Ile913Val	PROT:Q13635	PTCH1	I	913	V	I913V	Benign/Likely benign	0	2	5	80
MUT:PTCH1:Leu1156Arg	PROT:Q13635	PTCH1	L	1156	R	L1156R	Pathogenic/Likely pathogenic	1	2	5	39
MUT:PTCH1:Leu202Phe	PROT:Q13635	PTCH1	L	202	F	L202F	Benign	0	1	5	39
MUT:PTCH1:Leu487Arg	PROT:Q13635	PTCH1	L	487	R	L487R	Likely pathogenic	1	1	5	324
MUT:PTCH1:Leu777Val	PROT:Q13635	PTCH1	L	777	V	L777V	Likely benign	0	1	5	216
MUT:PTCH1:Leu822Pro	PROT:Q13635	PTCH1	L	822	P	L822P	Likely pathogenic	1	1	5	171
MUT:PTCH1:Lys353Arg	PROT:Q13635	PTCH1	K	353	R	K353R	Benign/Likely benign	0	2	5	190
MUT:PTCH1:Lys418Asn	PROT:Q13635	PTCH1	K	418	N	K418N	Benign	0	1	5	255
MUT:PTCH1:Lys69Asn	PROT:Q13635	PTCH1	K	69	N	K69N	Likely benign	0	1	5	94
MUT:PTCH1:Met1209Val	PROT:Q13635	PTCH1	M	1209	V	M1209V	Benign/Likely benign	0	2	5	12
MUT:PTCH1:Met1357Val	PROT:Q13635	PTCH1	M	1357	V	M1357V	Likely benign	0	2	5	68
MUT:PTCH1:Met1Leu	PROT:Q13635	PTCH1	M	1	L	M1L	Likely benign	0	1	5	162
MUT:PTCH1:Phe112Leu	PROT:Q13635	PTCH1	F	112	L	F112L	Benign	0	2	5	51
MUT:PTCH1:Phe1147Ser	PROT:Q13635	PTCH1	F	1147	S	F1147S	Likely pathogenic	1	1	5	48
MUT:PTCH1:Phe757Ser	PROT:Q13635	PTCH1	F	757	S	F757S	Benign/Likely benign	0	4	5	236
MUT:PTCH1:Pro1279Leu	PROT:Q13635	PTCH1	P	1279	L	P1279L	Benign/Likely benign	0	2	5	82
MUT:PTCH1:Pro1282Leu	PROT:Q13635	PTCH1	P	1282	L	P1282L	Benign/Likely benign	0	3	5	85
MUT:PTCH1:Pro1294Leu	PROT:Q13635	PTCH1	P	1294	L	P1294L	Benign/Likely benign	0	2	5	97
MUT:PTCH1:Pro1307Ala	PROT:Q13635	PTCH1	P	1307	A	P1307A	Benign	0	2	5	110
MUT:PTCH1:Pro1314Ser	PROT:Q13635	PTCH1	P	1314	S	P1314S	Benign/Likely benign	0	2	5	111
MUT:PTCH1:Pro1315Ala	PROT:Q13635	PTCH1	P	1315	A	P1315A	Benign	0	1	5	110
MUT:PTCH1:Pro1315Leu	PROT:Q13635	PTCH1	P	1315	L	P1315L	Benign	0	4	5	110
MUT:PTCH1:Pro1318Leu	PROT:Q13635	PTCH1	P	1318	L	P1318L	Benign/Likely benign	0	2	5	107
MUT:PTCH1:Pro1341Ser	PROT:Q13635	PTCH1	P	1341	S	P1341S	Likely benign	0	1	5	84
MUT:PTCH1:Pro1383Leu	PROT:Q13635	PTCH1	P	1383	L	P1383L	Likely benign	0	3	5	42
MUT:PTCH1:Pro231Leu	PROT:Q13635	PTCH1	P	231	L	P231L	Likely benign	0	1	5	68
MUT:PTCH1:Pro504Gln	PROT:Q13635	PTCH1	P	504	Q	P504Q	Likely pathogenic	1	1	5	341
MUT:PTCH1:Pro681Leu	PROT:Q13635	PTCH1	P	681	L	P681L	Pathogenic/Likely pathogenic	1	2	5	312
MUT:PTCH1:Pro725Ser	PROT:Q13635	PTCH1	P	725	S	P725S	Benign/Likely benign	0	4	5	268
MUT:PTCH1:Ser1132Phe	PROT:Q13635	PTCH1	S	1132	F	S1132F	Pathogenic/Likely pathogenic	1	2	5	63
MUT:PTCH1:Ser1132Pro	PROT:Q13635	PTCH1	S	1132	P	S1132P	Pathogenic/Likely pathogenic	1	2	5	63
MUT:PTCH1:Ser1220Cys	PROT:Q13635	PTCH1	S	1220	C	S1220C	Likely benign	0	1	5	23
MUT:PTCH1:Ser1280Leu	PROT:Q13635	PTCH1	S	1280	L	S1280L	Benign/Likely benign	0	5	5	83
MUT:PTCH1:Ser1331Cys	PROT:Q13635	PTCH1	S	1331	C	S1331C	Likely benign	0	2	5	94
MUT:PTCH1:Ser1425Leu	PROT:Q13635	PTCH1	S	1425	L	S1425L	Likely benign	0	2	5	0
MUT:PTCH1:Ser18Cys	PROT:Q13635	PTCH1	S	18	C	S18C	Benign	0	1	5	145
MUT:PTCH1:Ser554Arg	PROT:Q13635	PTCH1	S	554	R	S554R	Likely pathogenic	1	1	5	391
MUT:PTCH1:Ser554Asn	PROT:Q13635	PTCH1	S	554	N	S554N	Likely benign	0	3	5	391
MUT:PTCH1:Ser646Arg	PROT:Q13635	PTCH1	S	646	R	S646R	Benign	0	1	5	347
MUT:PTCH1:Ser827Gly	PROT:Q13635	PTCH1	S	827	G	S827G	Benign/Likely benign	0	5	5	166
MUT:PTCH1:Thr1133Ile	PROT:Q13635	PTCH1	T	1133	I	T1133I	Pathogenic	1	1	5	62
MUT:PTCH1:Thr1195Ser	PROT:Q13635	PTCH1	T	1195	S	T1195S	Benign/Likely benign	0	3	5	0
MUT:PTCH1:Thr1214Met	PROT:Q13635	PTCH1	T	1214	M	T1214M	Likely benign	0	4	5	17
MUT:PTCH1:Thr1404Ala	PROT:Q13635	PTCH1	T	1404	A	T1404A	Benign/Likely benign	0	3	5	21
MUT:PTCH1:Thr499Arg	PROT:Q13635	PTCH1	T	499	R	T499R	Likely pathogenic	1	2	5	336
MUT:PTCH1:Thr551Ala	PROT:Q13635	PTCH1	T	551	A	T551A	Likely benign	0	1	5	388
MUT:PTCH1:Thr672Ala	PROT:Q13635	PTCH1	T	672	A	T672A	Benign	0	1	5	321
MUT:PTCH1:Thr71Ile	PROT:Q13635	PTCH1	T	71	I	T71I	Likely benign	0	3	5	92
MUT:PTCH1:Thr728Met	PROT:Q13635	PTCH1	T	728	M	T728M	Benign/Likely benign	0	3	5	265
MUT:PTCH1:Thr778Pro	PROT:Q13635	PTCH1	T	778	P	T778P	Likely pathogenic	1	1	5	215
MUT:PTCH1:Trp129Arg	PROT:Q13635	PTCH1	W	129	R	W129R	Likely pathogenic	1	2	5	34
MUT:PTCH1:Trp844Arg	PROT:Q13635	PTCH1	W	844	R	W844R	Likely pathogenic	1	1	5	149
MUT:PTCH1:Trp844Cys	PROT:Q13635	PTCH1	W	844	C	W844C	Pathogenic	1	1	5	149
MUT:PTCH1:Trp844Ser	PROT:Q13635	PTCH1	W	844	S	W844S	Likely pathogenic	1	1	5	149
MUT:PTCH1:Trp926Gly	PROT:Q13635	PTCH1	W	926	G	W926G	Likely pathogenic	1	1	5	67
MUT:PTCH1:Trp926Ser	PROT:Q13635	PTCH1	W	926	S	W926S	Likely pathogenic	1	1	5	67
MUT:PTCH1:Tyr1021Cys	PROT:Q13635	PTCH1	Y	1021	C	Y1021C	Likely pathogenic	1	1	5	28
MUT:PTCH1:Tyr645Cys	PROT:Q13635	PTCH1	Y	645	C	Y645C	Likely benign	0	2	5	348
MUT:PTCH1:Tyr788Asp	PROT:Q13635	PTCH1	Y	788	D	Y788D	Likely benign	0	1	5	205
MUT:PTCH1:Val1256Met	PROT:Q13635	PTCH1	V	1256	M	V1256M	Benign/Likely benign	0	3	5	59
MUT:PTCH1:Val1270Ala	PROT:Q13635	PTCH1	V	1270	A	V1270A	Benign	0	1	5	73
MUT:PTCH1:Val1361Leu	PROT:Q13635	PTCH1	V	1361	L	V1361L	Likely benign	0	1	5	64
MUT:PTCH1:Val1414Met	PROT:Q13635	PTCH1	V	1414	M	V1414M	Likely benign	0	4	5	11
MUT:PTCH1:Val442Glu	PROT:Q13635	PTCH1	V	442	E	V442E	Pathogenic	1	1	5	279
MUT:PTCH1:Val690Ile	PROT:Q13635	PTCH1	V	690	I	V690I	Benign/Likely benign	0	2	5	303
MUT:PTCH1:Val832Asp	PROT:Q13635	PTCH1	V	832	D	V832D	Likely pathogenic	1	1	5	161
MUT:PTCH1:Val832Ile	PROT:Q13635	PTCH1	V	832	I	V832I	Likely benign	0	1	5	161
MUT:PTCH1:Val908Gly	PROT:Q13635	PTCH1	V	908	G	V908G	Pathogenic	1	1	5	85
MUT:PTCH2:Ala436Val	PROT:Q9Y6C5	PTCH2	A	436	V	A436V	Likely benign	0	1	4	257
MUT:PTCH2:Ala750Thr	PROT:Q9Y6C5	PTCH2	A	750	T	A750T	Benign/Likely benign	0	1	4	402
MUT:PTCH2:Arg208Cys	PROT:Q9Y6C5	PTCH2	R	208	C	R208C	Benign	0	3	4	29
MUT:PTCH2:Arg358His	PROT:Q9Y6C5	PTCH2	R	358	H	R358H	Benign/Likely benign	0	1	4	179
MUT:PTCH2:Arg665Cys	PROT:Q9Y6C5	PTCH2	R	665	C	R665C	Likely benign	0	2	4	486
MUT:PTCH2:Arg898His	PROT:Q9Y6C5	PTCH2	R	898	H	R898H	Likely benign	0	2	4	254
MUT:PTCH2:Gln245His	PROT:Q9Y6C5	PTCH2	Q	245	H	Q245H	Likely benign	0	1	4	66
MUT:PTCH2:Glu493Lys	PROT:Q9Y6C5	PTCH2	E	493	K	E493K	Likely benign	0	2	4	314
MUT:PTCH2:Gly1197Arg	PROT:Q9Y6C5	PTCH2	G	1197	R	G1197R	Benign	0	2	4	40
MUT:PTCH2:Gly587Glu	PROT:Q9Y6C5	PTCH2	G	587	E	G587E	Benign/Likely benign	0	2	4	408
MUT:PTCH2:His622Asn	PROT:Q9Y6C5	PTCH2	H	622	N	H622N	Benign/Likely benign	0	2	4	443
MUT:PTCH2:His622Tyr	PROT:Q9Y6C5	PTCH2	H	622	Y	H622Y	Benign/Likely benign	0	4	4	443
MUT:PTCH2:Ile1121Met	PROT:Q9Y6C5	PTCH2	I	1121	M	I1121M	Benign/Likely benign	0	1	4	31
MUT:PTCH2:Ile386Phe	PROT:Q9Y6C5	PTCH2	I	386	F	I386F	Likely benign	0	1	4	207
MUT:PTCH2:Leu435Pro	PROT:Q9Y6C5	PTCH2	L	435	P	L435P	Pathogenic	1	2	4	256
MUT:PTCH2:Ser573Phe	PROT:Q9Y6C5	PTCH2	S	573	F	S573F	Likely benign	0	1	4	394
MUT:PTCH2:Thr15Ile	PROT:Q9Y6C5	PTCH2	T	15	I	T15I	Benign	0	3	4	147
MUT:PTCH2:Thr498Met	PROT:Q9Y6C5	PTCH2	T	498	M	T498M	Benign/Likely benign	0	3	4	319
MUT:PTCH2:Thr988Met	PROT:Q9Y6C5	PTCH2	T	988	M	T988M	Benign	0	3	4	164
MUT:PTCH2:Val1062Met	PROT:Q9Y6C5	PTCH2	V	1062	M	V1062M	Likely benign	0	2	4	90
MUT:PTCH2:Val503Ile	PROT:Q9Y6C5	PTCH2	V	503	I	V503I	Likely benign	0	2	4	324
MUT:PTCHD3:Ala224Gly	PROT:Q3KNS1	PTCHD3	A	224	G	A224G	Benign	0	1	2	111
MUT:PTDSS1:Arg349Cys	PROT:P48651	PTDSS1	R	349	C	R349C	Likely benign	0	1	12	1
MUT:PTDSS1:Arg95Gln	PROT:P48651	PTDSS1	R	95	Q	R95Q	Pathogenic/Likely pathogenic	1	1	12	77
MUT:PTDSS1:Asn450His	PROT:P48651	PTDSS1	N	450	H	N450H	Likely benign	0	2	12	4
MUT:PTDSS1:Gln353Arg	PROT:P48651	PTDSS1	Q	353	R	Q353R	Pathogenic	1	1	12	5
MUT:PTDSS1:Gly401Ser	PROT:P48651	PTDSS1	G	401	S	G401S	Benign/Likely benign	0	1	12	14
MUT:PTDSS1:Leu265Pro	PROT:P48651	PTDSS1	L	265	P	L265P	Pathogenic	1	1	12	4
MUT:PTDSS1:Pro269Leu	PROT:P48651	PTDSS1	P	269	L	P269L	Pathogenic	1	1	12	5
MUT:PTDSS1:Pro269Ser	PROT:P48651	PTDSS1	P	269	S	P269S	Pathogenic	1	1	12	5
MUT:PTDSS1:Ser283Phe	PROT:P48651	PTDSS1	S	283	F	S283F	Likely pathogenic	1	1	12	9
MUT:PTEN:Ala121Glu	PROT:P60484	PTEN	A	121	E	A121E	Likely pathogenic	1	1	49	4
MUT:PTEN:Ala121Pro	PROT:P60484	PTEN	A	121	P	A121P	Likely pathogenic	1	1	49	4
MUT:PTEN:Ala121Ser	PROT:P60484	PTEN	A	121	S	A121S	Likely pathogenic	1	1	49	4
MUT:PTEN:Ala121Thr	PROT:P60484	PTEN	A	121	T	A121T	Likely pathogenic	1	1	49	4
MUT:PTEN:Ala126Pro	PROT:P60484	PTEN	A	126	P	A126P	Pathogenic	1	1	49	1
MUT:PTEN:Ala126Thr	PROT:P60484	PTEN	A	126	T	A126T	Likely pathogenic	1	3	49	1
MUT:PTEN:Ala126Val	PROT:P60484	PTEN	A	126	V	A126V	Pathogenic/Likely pathogenic	1	3	49	1
MUT:PTEN:Ala34Pro	PROT:P60484	PTEN	A	34	P	A34P	Pathogenic	1	2	49	7
MUT:PTEN:Ala39Thr	PROT:P60484	PTEN	A	39	T	A39T	Likely pathogenic	1	2	49	7
MUT:PTEN:Ala39Val	PROT:P60484	PTEN	A	39	V	A39V	Likely pathogenic	1	3	49	7
MUT:PTEN:Ala79Thr	PROT:P60484	PTEN	A	79	T	A79T	Benign	0	7	49	1
MUT:PTEN:Arg130Gln	PROT:P60484	PTEN	R	130	Q	R130Q	Pathogenic	1	6	49	2
MUT:PTEN:Arg130Gly	PROT:P60484	PTEN	R	130	G	R130G	Pathogenic	1	4	49	2
MUT:PTEN:Arg130Leu	PROT:P60484	PTEN	R	130	L	R130L	Pathogenic/Likely pathogenic	1	2	49	2
MUT:PTEN:Arg130Pro	PROT:P60484	PTEN	R	130	P	R130P	Pathogenic	1	2	49	2
MUT:PTEN:Arg142Pro	PROT:P60484	PTEN	R	142	P	R142P	Likely pathogenic	1	2	49	4
MUT:PTEN:Arg159Gly	PROT:P60484	PTEN	R	159	G	R159G	Pathogenic/Likely pathogenic	1	3	49	4
MUT:PTEN:Arg159Lys	PROT:P60484	PTEN	R	159	K	R159K	Pathogenic	1	2	49	4
MUT:PTEN:Arg159Ser	PROT:P60484	PTEN	R	159	S	R159S	Likely pathogenic	1	2	49	4
MUT:PTEN:Arg159Trp	PROT:P60484	PTEN	R	159	W	R159W	Pathogenic	1	1	49	4
MUT:PTEN:Arg15Gly	PROT:P60484	PTEN	R	15	G	R15G	Likely pathogenic	1	1	49	2
MUT:PTEN:Arg15Ile	PROT:P60484	PTEN	R	15	I	R15I	Likely pathogenic	1	2	49	2
MUT:PTEN:Arg15Lys	PROT:P60484	PTEN	R	15	K	R15K	Likely pathogenic	1	1	49	2
MUT:PTEN:Arg15Ser	PROT:P60484	PTEN	R	15	S	R15S	Pathogenic/Likely pathogenic	1	3	49	2
MUT:PTEN:Arg15Thr	PROT:P60484	PTEN	R	15	T	R15T	Likely pathogenic	1	2	49	2
MUT:PTEN:Arg173Cys	PROT:P60484	PTEN	R	173	C	R173C	Pathogenic	1	8	49	1
MUT:PTEN:Arg173His	PROT:P60484	PTEN	R	173	H	R173H	Pathogenic/Likely pathogenic	1	4	49	1
MUT:PTEN:Arg173Leu	PROT:P60484	PTEN	R	173	L	R173L	Likely pathogenic	1	3	49	1
MUT:PTEN:Arg173Pro	PROT:P60484	PTEN	R	173	P	R173P	Pathogenic	1	2	49	1
MUT:PTEN:Arg47Gly	PROT:P60484	PTEN	R	47	G	R47G	Pathogenic	1	2	49	1
MUT:PTEN:Arg47Lys	PROT:P60484	PTEN	R	47	K	R47K	Likely pathogenic	1	3	49	1
MUT:PTEN:Asn12Ile	PROT:P60484	PTEN	N	12	I	N12I	Likely pathogenic	1	1	49	1
MUT:PTEN:Asn12Thr	PROT:P60484	PTEN	N	12	T	N12T	Pathogenic	1	1	49	1
MUT:PTEN:Asn276Ser	PROT:P60484	PTEN	N	276	S	N276S	Pathogenic	1	3	49	13
MUT:PTEN:Asn31Asp	PROT:P60484	PTEN	N	31	D	N31D	Likely pathogenic	1	1	49	4
MUT:PTEN:Asn48Lys	PROT:P60484	PTEN	N	48	K	N48K	Pathogenic/Likely pathogenic	1	3	49	2
MUT:PTEN:Asn48Ser	PROT:P60484	PTEN	N	48	S	N48S	Pathogenic	1	1	49	2
MUT:PTEN:Asp107Gly	PROT:P60484	PTEN	D	107	G	D107G	Likely pathogenic	1	1	49	6
MUT:PTEN:Asp107Tyr	PROT:P60484	PTEN	D	107	Y	D107Y	Pathogenic	1	2	49	6
MUT:PTEN:Asp107Val	PROT:P60484	PTEN	D	107	V	D107V	Pathogenic	1	2	49	6
MUT:PTEN:Asp162Glu	PROT:P60484	PTEN	D	162	E	D162E	Likely pathogenic	1	1	49	1
MUT:PTEN:Asp19Val	PROT:P60484	PTEN	D	19	V	D19V	Pathogenic	1	2	49	6
MUT:PTEN:Asp22His	PROT:P60484	PTEN	D	22	H	D22H	Likely pathogenic	1	2	49	5
MUT:PTEN:Asp22Tyr	PROT:P60484	PTEN	D	22	Y	D22Y	Likely pathogenic	1	1	49	5
MUT:PTEN:Asp22Val	PROT:P60484	PTEN	D	22	V	D22V	Likely pathogenic	1	1	49	5
MUT:PTEN:Asp24Asn	PROT:P60484	PTEN	D	24	N	D24N	Pathogenic	1	2	49	3
MUT:PTEN:Asp24Gly	PROT:P60484	PTEN	D	24	G	D24G	Pathogenic/Likely pathogenic	1	2	49	3
MUT:PTEN:Asp24His	PROT:P60484	PTEN	D	24	H	D24H	Pathogenic	1	5	49	3
MUT:PTEN:Asp24Tyr	PROT:P60484	PTEN	D	24	Y	D24Y	Pathogenic	1	2	49	3
MUT:PTEN:Asp24Val	PROT:P60484	PTEN	D	24	V	D24V	Pathogenic/Likely pathogenic	1	1	49	3
MUT:PTEN:Asp252Gly	PROT:P60484	PTEN	D	252	G	D252G	Pathogenic	1	4	49	12
MUT:PTEN:Asp252Val	PROT:P60484	PTEN	D	252	V	D252V	Pathogenic/Likely pathogenic	1	3	49	12
MUT:PTEN:Asp310Gly	PROT:P60484	PTEN	D	310	G	D310G	Pathogenic/Likely pathogenic	1	3	49	5
MUT:PTEN:Asp326Asn	PROT:P60484	PTEN	D	326	N	D326N	Pathogenic	1	2	49	1
MUT:PTEN:Asp326Gly	PROT:P60484	PTEN	D	326	G	D326G	Likely pathogenic	1	2	49	1
MUT:PTEN:Asp326His	PROT:P60484	PTEN	D	326	H	D326H	Likely pathogenic	1	1	49	1
MUT:PTEN:Asp92Ala	PROT:P60484	PTEN	D	92	A	D92A	Pathogenic/Likely pathogenic	1	2	49	12
MUT:PTEN:Asp92Glu	PROT:P60484	PTEN	D	92	E	D92E	Likely pathogenic	1	2	49	12
MUT:PTEN:Asp92Gly	PROT:P60484	PTEN	D	92	G	D92G	Pathogenic/Likely pathogenic	1	4	49	12
MUT:PTEN:Asp92Tyr	PROT:P60484	PTEN	D	92	Y	D92Y	Pathogenic/Likely pathogenic	1	2	49	12
MUT:PTEN:Asp92Val	PROT:P60484	PTEN	D	92	V	D92V	Pathogenic/Likely pathogenic	1	3	49	12
MUT:PTEN:Cys105Arg	PROT:P60484	PTEN	C	105	R	C105R	Likely pathogenic	1	2	49	8
MUT:PTEN:Cys105Gly	PROT:P60484	PTEN	C	105	G	C105G	Likely pathogenic	1	2	49	8
MUT:PTEN:Cys105Tyr	PROT:P60484	PTEN	C	105	Y	C105Y	Pathogenic	1	2	49	8
MUT:PTEN:Cys124Arg	PROT:P60484	PTEN	C	124	R	C124R	Pathogenic	1	3	49	1
MUT:PTEN:Cys124Gly	PROT:P60484	PTEN	C	124	G	C124G	Pathogenic	1	3	49	1
MUT:PTEN:Cys124Phe	PROT:P60484	PTEN	C	124	F	C124F	Pathogenic	1	1	49	1
MUT:PTEN:Cys124Ser	PROT:P60484	PTEN	C	124	S	C124S	Likely pathogenic	1	3	49	1
MUT:PTEN:Cys124Trp	PROT:P60484	PTEN	C	124	W	C124W	Pathogenic/Likely pathogenic	1	3	49	1
MUT:PTEN:Cys124Tyr	PROT:P60484	PTEN	C	124	Y	C124Y	Pathogenic/Likely pathogenic	1	2	49	1
MUT:PTEN:Cys136Arg	PROT:P60484	PTEN	C	136	R	C136R	Pathogenic/Likely pathogenic	1	7	49	2
MUT:PTEN:Cys136Phe	PROT:P60484	PTEN	C	136	F	C136F	Pathogenic/Likely pathogenic	1	2	49	2
MUT:PTEN:Cys136Trp	PROT:P60484	PTEN	C	136	W	C136W	Pathogenic	1	3	49	2
MUT:PTEN:Cys136Tyr	PROT:P60484	PTEN	C	136	Y	C136Y	Pathogenic	1	4	49	2
MUT:PTEN:Cys211Trp	PROT:P60484	PTEN	C	211	W	C211W	Pathogenic	1	2	49	10
MUT:PTEN:Cys71Trp	PROT:P60484	PTEN	C	71	W	C71W	Likely pathogenic	1	2	49	3
MUT:PTEN:Cys71Tyr	PROT:P60484	PTEN	C	71	Y	C71Y	Pathogenic	1	2	49	3
MUT:PTEN:Gln171Arg	PROT:P60484	PTEN	Q	171	R	Q171R	Likely pathogenic	1	2	49	3
MUT:PTEN:Gln171Glu	PROT:P60484	PTEN	Q	171	E	Q171E	Likely pathogenic	1	3	49	3
MUT:PTEN:Gln298Glu	PROT:P60484	PTEN	Q	298	E	Q298E	Likely benign	0	6	49	4
MUT:PTEN:Gly127Arg	PROT:P60484	PTEN	G	127	R	G127R	Pathogenic/Likely pathogenic	1	3	49	1
MUT:PTEN:Gly127Glu	PROT:P60484	PTEN	G	127	E	G127E	Likely pathogenic	1	2	49	1
MUT:PTEN:Gly129Arg	PROT:P60484	PTEN	G	129	R	G129R	Pathogenic/Likely pathogenic	1	2	49	1
MUT:PTEN:Gly129Glu	PROT:P60484	PTEN	G	129	E	G129E	Pathogenic/Likely pathogenic	1	4	49	1
MUT:PTEN:Gly129Val	PROT:P60484	PTEN	G	129	V	G129V	Pathogenic	1	2	49	1
MUT:PTEN:Gly132Asp	PROT:P60484	PTEN	G	132	D	G132D	Pathogenic	1	3	49	4
MUT:PTEN:Gly132Ser	PROT:P60484	PTEN	G	132	S	G132S	Pathogenic/Likely pathogenic	1	4	49	4
MUT:PTEN:Gly132Val	PROT:P60484	PTEN	G	132	V	G132V	Pathogenic/Likely pathogenic	1	4	49	4
MUT:PTEN:Gly165Arg	PROT:P60484	PTEN	G	165	R	G165R	Pathogenic	1	4	49	1
MUT:PTEN:Gly165Val	PROT:P60484	PTEN	G	165	V	G165V	Pathogenic/Likely pathogenic	1	2	49	1
MUT:PTEN:Gly20Val	PROT:P60484	PTEN	G	20	V	G20V	Likely pathogenic	1	2	49	7
MUT:PTEN:Gly251Val	PROT:P60484	PTEN	G	251	V	G251V	Likely pathogenic	1	2	49	11
MUT:PTEN:Gly36Arg	PROT:P60484	PTEN	G	36	R	G36R	Likely pathogenic	1	4	49	9
MUT:PTEN:Gly36Glu	PROT:P60484	PTEN	G	36	E	G36E	Pathogenic	1	2	49	9
MUT:PTEN:Gly44Asp	PROT:P60484	PTEN	G	44	D	G44D	Pathogenic	1	2	49	2
MUT:PTEN:His118Pro	PROT:P60484	PTEN	H	118	P	H118P	Likely pathogenic	1	2	49	5
MUT:PTEN:His123Arg	PROT:P60484	PTEN	H	123	R	H123R	Pathogenic	1	3	49	2
MUT:PTEN:His123Asp	PROT:P60484	PTEN	H	123	D	H123D	Pathogenic	1	2	49	2
MUT:PTEN:His123Gln	PROT:P60484	PTEN	H	123	Q	H123Q	Pathogenic/Likely pathogenic	1	1	49	2
MUT:PTEN:His123Leu	PROT:P60484	PTEN	H	123	L	H123L	Likely pathogenic	1	1	49	2
MUT:PTEN:His123Tyr	PROT:P60484	PTEN	H	123	Y	H123Y	Pathogenic/Likely pathogenic	1	1	49	2
MUT:PTEN:His141Leu	PROT:P60484	PTEN	H	141	L	H141L	Likely pathogenic	1	1	49	3
MUT:PTEN:His141Pro	PROT:P60484	PTEN	H	141	P	H141P	Likely pathogenic	1	2	49	3
MUT:PTEN:His272Pro	PROT:P60484	PTEN	H	272	P	H272P	Likely pathogenic	1	1	49	17
MUT:PTEN:His61Arg	PROT:P60484	PTEN	H	61	R	H61R	Likely pathogenic	1	3	49	1
MUT:PTEN:His61Asp	PROT:P60484	PTEN	H	61	D	H61D	Likely pathogenic	1	2	49	1
MUT:PTEN:His61Pro	PROT:P60484	PTEN	H	61	P	H61P	Likely pathogenic	1	1	49	1
MUT:PTEN:His61Tyr	PROT:P60484	PTEN	H	61	Y	H61Y	Likely pathogenic	1	1	49	1
MUT:PTEN:His64Pro	PROT:P60484	PTEN	H	64	P	H64P	Pathogenic/Likely pathogenic	1	2	49	2
MUT:PTEN:His93Arg	PROT:P60484	PTEN	H	93	R	H93R	Pathogenic	1	3	49	13
MUT:PTEN:His93Asp	PROT:P60484	PTEN	H	93	D	H93D	Likely pathogenic	1	1	49	13
MUT:PTEN:His93Pro	PROT:P60484	PTEN	H	93	P	H93P	Likely pathogenic	1	2	49	13
MUT:PTEN:His93Tyr	PROT:P60484	PTEN	H	93	Y	H93Y	Pathogenic/Likely pathogenic	1	3	49	13
MUT:PTEN:Ile101Asn	PROT:P60484	PTEN	I	101	N	I101N	Pathogenic/Likely pathogenic	1	2	49	12
MUT:PTEN:Ile101Thr	PROT:P60484	PTEN	I	101	T	I101T	Pathogenic/Likely pathogenic	1	3	49	12
MUT:PTEN:Ile135Lys	PROT:P60484	PTEN	I	135	K	I135K	Pathogenic/Likely pathogenic	1	1	49	3
MUT:PTEN:Ile135Val	PROT:P60484	PTEN	I	135	V	I135V	Pathogenic/Likely pathogenic	1	3	49	3
MUT:PTEN:Ile253Asn	PROT:P60484	PTEN	I	253	N	I253N	Pathogenic/Likely pathogenic	1	3	49	13
MUT:PTEN:Ile32Ser	PROT:P60484	PTEN	I	32	S	I32S	Likely pathogenic	1	1	49	5
MUT:PTEN:Ile50Thr	PROT:P60484	PTEN	I	50	T	I50T	Pathogenic	1	3	49	4
MUT:PTEN:Ile5Thr	PROT:P60484	PTEN	I	5	T	I5T	Likely pathogenic	1	2	49	1
MUT:PTEN:Ile67Arg	PROT:P60484	PTEN	I	67	R	I67R	Likely pathogenic	1	1	49	1
MUT:PTEN:Leu108Arg	PROT:P60484	PTEN	L	108	R	L108R	Likely pathogenic	1	1	49	5
MUT:PTEN:Leu108Phe	PROT:P60484	PTEN	L	108	F	L108F	Likely pathogenic	1	2	49	5
MUT:PTEN:Leu108Pro	PROT:P60484	PTEN	L	108	P	L108P	Pathogenic/Likely pathogenic	1	3	49	5
MUT:PTEN:Leu112Arg	PROT:P60484	PTEN	L	112	R	L112R	Pathogenic	1	1	49	1
MUT:PTEN:Leu112Pro	PROT:P60484	PTEN	L	112	P	L112P	Pathogenic	1	1	49	1
MUT:PTEN:Leu112Val	PROT:P60484	PTEN	L	112	V	L112V	Likely pathogenic	1	4	49	1
MUT:PTEN:Leu152Gln	PROT:P60484	PTEN	L	152	Q	L152Q	Likely pathogenic	1	1	49	3
MUT:PTEN:Leu181Pro	PROT:P60484	PTEN	L	181	P	L181P	Pathogenic	1	3	49	1
MUT:PTEN:Leu23Val	PROT:P60484	PTEN	L	23	V	L23V	Likely pathogenic	1	2	49	4
MUT:PTEN:Leu247Ser	PROT:P60484	PTEN	L	247	S	L247S	Likely pathogenic	1	2	49	7
MUT:PTEN:Leu316Pro	PROT:P60484	PTEN	L	316	P	L316P	Likely pathogenic	1	1	49	1
MUT:PTEN:Leu320Ser	PROT:P60484	PTEN	L	320	S	L320S	Likely pathogenic	1	2	49	1
MUT:PTEN:Leu345Pro	PROT:P60484	PTEN	L	345	P	L345P	Pathogenic	1	2	49	9
MUT:PTEN:Leu57Trp	PROT:P60484	PTEN	L	57	W	L57W	Likely pathogenic	1	3	49	3
MUT:PTEN:Leu70Pro	PROT:P60484	PTEN	L	70	P	L70P	Likely pathogenic	1	3	49	2
MUT:PTEN:Leu98Arg	PROT:P60484	PTEN	L	98	R	L98R	Pathogenic/Likely pathogenic	1	3	49	15
MUT:PTEN:Leu98Pro	PROT:P60484	PTEN	L	98	P	L98P	Pathogenic/Likely pathogenic	1	1	49	15
MUT:PTEN:Lys125Arg	PROT:P60484	PTEN	K	125	R	K125R	Likely pathogenic	1	1	49	0
MUT:PTEN:Lys125Glu	PROT:P60484	PTEN	K	125	E	K125E	Pathogenic	1	3	49	0
MUT:PTEN:Lys128Arg	PROT:P60484	PTEN	K	128	R	K128R	Pathogenic/Likely pathogenic	1	2	49	0
MUT:PTEN:Lys128Asn	PROT:P60484	PTEN	K	128	N	K128N	Likely pathogenic	1	2	49	0
MUT:PTEN:Lys128Glu	PROT:P60484	PTEN	K	128	E	K128E	Likely pathogenic	1	3	49	0
MUT:PTEN:Lys13Gln	PROT:P60484	PTEN	K	13	Q	K13Q	Likely pathogenic	1	1	49	0
MUT:PTEN:Lys13Glu	PROT:P60484	PTEN	K	13	E	K13E	Pathogenic/Likely pathogenic	1	4	49	0
MUT:PTEN:Lys254Thr	PROT:P60484	PTEN	K	254	T	K254T	Likely pathogenic	1	1	49	14
MUT:PTEN:Lys267Asn	PROT:P60484	PTEN	K	267	N	K267N	Pathogenic	1	2	49	22
MUT:PTEN:Lys66Asn	PROT:P60484	PTEN	K	66	N	K66N	Likely pathogenic	1	1	49	0
MUT:PTEN:Lys6Glu	PROT:P60484	PTEN	K	6	E	K6E	Pathogenic	1	3	49	0
MUT:PTEN:Met134Ile	PROT:P60484	PTEN	M	134	I	M134I	Likely pathogenic	1	2	49	4
MUT:PTEN:Met134Thr	PROT:P60484	PTEN	M	134	T	M134T	Pathogenic/Likely pathogenic	1	2	49	4
MUT:PTEN:Met134Val	PROT:P60484	PTEN	M	134	V	M134V	Pathogenic	1	1	49	4
MUT:PTEN:Met198Lys	PROT:P60484	PTEN	M	198	K	M198K	Likely pathogenic	1	1	49	18
MUT:PTEN:Met1Arg	PROT:P60484	PTEN	M	1	R	M1R	Pathogenic/Likely pathogenic	1	4	49	5
MUT:PTEN:Met1Ile	PROT:P60484	PTEN	M	1	I	M1I	Pathogenic	1	1	49	5
MUT:PTEN:Met1Leu	PROT:P60484	PTEN	M	1	L	M1L	Likely pathogenic	1	1	49	5
MUT:PTEN:Met1Thr	PROT:P60484	PTEN	M	1	T	M1T	Pathogenic	1	1	49	5
MUT:PTEN:Met1Val	PROT:P60484	PTEN	M	1	V	M1V	Pathogenic	1	3	49	5
MUT:PTEN:Met35Arg	PROT:P60484	PTEN	M	35	R	M35R	Pathogenic	1	2	49	8
MUT:PTEN:Met35Leu	PROT:P60484	PTEN	M	35	L	M35L	Likely pathogenic	1	2	49	8
MUT:PTEN:Met35Thr	PROT:P60484	PTEN	M	35	T	M35T	Likely pathogenic	1	2	49	8
MUT:PTEN:Met35Val	PROT:P60484	PTEN	M	35	V	M35V	Pathogenic	1	3	49	8
MUT:PTEN:Phe195Ser	PROT:P60484	PTEN	F	195	S	F195S	Likely pathogenic	1	1	49	15
MUT:PTEN:Phe200Ser	PROT:P60484	PTEN	F	200	S	F200S	Likely pathogenic	1	1	49	20
MUT:PTEN:Phe200Val	PROT:P60484	PTEN	F	200	V	F200V	Likely pathogenic	1	1	49	20
MUT:PTEN:Phe241Ser	PROT:P60484	PTEN	F	241	S	F241S	Likely pathogenic	1	2	49	1
MUT:PTEN:Phe56Ser	PROT:P60484	PTEN	F	56	S	F56S	Likely pathogenic	1	1	49	4
MUT:PTEN:Phe90Leu	PROT:P60484	PTEN	F	90	L	F90L	Likely pathogenic	1	1	49	10
MUT:PTEN:Phe90Ser	PROT:P60484	PTEN	F	90	S	F90S	Pathogenic/Likely pathogenic	1	4	49	10
MUT:PTEN:Pro204Ala	PROT:P60484	PTEN	P	204	A	P204A	Pathogenic	1	2	49	17
MUT:PTEN:Pro246Leu	PROT:P60484	PTEN	P	246	L	P246L	Pathogenic	1	5	49	6
MUT:PTEN:Pro354Gln	PROT:P60484	PTEN	P	354	Q	P354Q	Likely benign	0	5	49	8
MUT:PTEN:Pro354Ser	PROT:P60484	PTEN	P	354	S	P354S	Likely benign	0	1	49	8
MUT:PTEN:Pro38His	PROT:P60484	PTEN	P	38	H	P38H	Likely pathogenic	1	1	49	8
MUT:PTEN:Pro38Leu	PROT:P60484	PTEN	P	38	L	P38L	Pathogenic	1	2	49	8
MUT:PTEN:Pro38Thr	PROT:P60484	PTEN	P	38	T	P38T	Likely pathogenic	1	1	49	8
MUT:PTEN:Pro95Leu	PROT:P60484	PTEN	P	95	L	P95L	Pathogenic	1	3	49	15
MUT:PTEN:Pro96Arg	PROT:P60484	PTEN	P	96	R	P96R	Pathogenic/Likely pathogenic	1	2	49	16
MUT:PTEN:Pro96Gln	PROT:P60484	PTEN	P	96	Q	P96Q	Pathogenic/Likely pathogenic	1	1	49	16
MUT:PTEN:Pro96Leu	PROT:P60484	PTEN	P	96	L	P96L	Likely pathogenic	1	3	49	16
MUT:PTEN:Ser170Arg	PROT:P60484	PTEN	S	170	R	S170R	Pathogenic	1	2	49	4
MUT:PTEN:Ser170Asn	PROT:P60484	PTEN	S	170	N	S170N	Likely pathogenic	1	3	49	4
MUT:PTEN:Ser170Ile	PROT:P60484	PTEN	S	170	I	S170I	Pathogenic	1	4	49	4
MUT:PTEN:Ser170Thr	PROT:P60484	PTEN	S	170	T	S170T	Likely pathogenic	1	1	49	4
MUT:PTEN:Ser229Thr	PROT:P60484	PTEN	S	229	T	S229T	Likely benign	0	2	49	0
MUT:PTEN:Ser294Arg	PROT:P60484	PTEN	S	294	R	S294R	Likely benign	0	3	49	0
MUT:PTEN:Ser360Gly	PROT:P60484	PTEN	S	360	G	S360G	Likely benign	0	3	49	2
MUT:PTEN:Thr131Ile	PROT:P60484	PTEN	T	131	I	T131I	Pathogenic	1	3	49	3
MUT:PTEN:Thr167Asn	PROT:P60484	PTEN	T	167	N	T167N	Likely pathogenic	1	2	49	3
MUT:PTEN:Thr202Ile	PROT:P60484	PTEN	T	202	I	T202I	Pathogenic	1	1	49	19
MUT:PTEN:Thr26Asn	PROT:P60484	PTEN	T	26	N	T26N	Likely pathogenic	1	2	49	1
MUT:PTEN:Thr26Ile	PROT:P60484	PTEN	T	26	I	T26I	Pathogenic/Likely pathogenic	1	3	49	1
MUT:PTEN:Thr26Pro	PROT:P60484	PTEN	T	26	P	T26P	Pathogenic	1	1	49	1
MUT:PTEN:Thr277Ala	PROT:P60484	PTEN	T	277	A	T277A	Pathogenic	1	1	49	12
MUT:PTEN:Thr277Arg	PROT:P60484	PTEN	T	277	R	T277R	Likely pathogenic	1	2	49	12
MUT:PTEN:Thr277Ile	PROT:P60484	PTEN	T	277	I	T277I	Pathogenic	1	5	49	12
MUT:PTEN:Trp111Arg	PROT:P60484	PTEN	W	111	R	W111R	Pathogenic	1	4	49	2
MUT:PTEN:Trp274Leu	PROT:P60484	PTEN	W	274	L	W274L	Pathogenic/Likely pathogenic	1	1	49	15
MUT:PTEN:Tyr155Asn	PROT:P60484	PTEN	Y	155	N	Y155N	Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr155Cys	PROT:P60484	PTEN	Y	155	C	Y155C	Pathogenic	1	8	49	0
MUT:PTEN:Tyr155His	PROT:P60484	PTEN	Y	155	H	Y155H	Pathogenic/Likely pathogenic	1	3	49	0
MUT:PTEN:Tyr155Ser	PROT:P60484	PTEN	Y	155	S	Y155S	Pathogenic/Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr16Asp	PROT:P60484	PTEN	Y	16	D	Y16D	Pathogenic/Likely pathogenic	1	1	49	3
MUT:PTEN:Tyr174Asn	PROT:P60484	PTEN	Y	174	N	Y174N	Likely pathogenic	1	2	49	0
MUT:PTEN:Tyr174Cys	PROT:P60484	PTEN	Y	174	C	Y174C	Likely pathogenic	1	2	49	0
MUT:PTEN:Tyr177Asn	PROT:P60484	PTEN	Y	177	N	Y177N	Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr177Cys	PROT:P60484	PTEN	Y	177	C	Y177C	Likely pathogenic	1	2	49	0
MUT:PTEN:Tyr177His	PROT:P60484	PTEN	Y	177	H	Y177H	Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr178Asn	PROT:P60484	PTEN	Y	178	N	Y178N	Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr27Asn	PROT:P60484	PTEN	Y	27	N	Y27N	Likely pathogenic	1	2	49	0
MUT:PTEN:Tyr27Cys	PROT:P60484	PTEN	Y	27	C	Y27C	Likely pathogenic	1	3	49	0
MUT:PTEN:Tyr27Ser	PROT:P60484	PTEN	Y	27	S	Y27S	Likely pathogenic	1	3	49	0
MUT:PTEN:Tyr46Asn	PROT:P60484	PTEN	Y	46	N	Y46N	Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr68Asp	PROT:P60484	PTEN	Y	68	D	Y68D	Pathogenic/Likely pathogenic	1	1	49	0
MUT:PTEN:Tyr68Cys	PROT:P60484	PTEN	Y	68	C	Y68C	Pathogenic/Likely pathogenic	1	3	49	0
MUT:PTEN:Tyr68His	PROT:P60484	PTEN	Y	68	H	Y68H	Pathogenic/Likely pathogenic	1	5	49	0
MUT:PTEN:Val119Ala	PROT:P60484	PTEN	V	119	A	V119A	Likely pathogenic	1	2	49	6
MUT:PTEN:Val119Gly	PROT:P60484	PTEN	V	119	G	V119G	Likely pathogenic	1	1	49	6
MUT:PTEN:Val119Leu	PROT:P60484	PTEN	V	119	L	V119L	Likely pathogenic	1	2	49	6
MUT:PTEN:Val119Phe	PROT:P60484	PTEN	V	119	F	V119F	Likely pathogenic	1	3	49	6
MUT:PTEN:Val166Glu	PROT:P60484	PTEN	V	166	E	V166E	Likely pathogenic	1	1	49	2
MUT:PTEN:Val175Met	PROT:P60484	PTEN	V	175	M	V175M	Pathogenic	1	2	49	1
MUT:PTEN:Val249Gly	PROT:P60484	PTEN	V	249	G	V249G	Likely pathogenic	1	1	49	9
MUT:PTEN:Val255Glu	PROT:P60484	PTEN	V	255	E	V255E	Likely pathogenic	1	2	49	15
MUT:PTEN:Val53Ile	PROT:P60484	PTEN	V	53	I	V53I	Pathogenic	1	1	49	7
MUT:PTH2R:Lys514Glu	PROT:P49190	PTH2R	K	514	E	K514E	Likely benign	0	1	1	32
MUT:PTH2R:Ser158Phe	PROT:P49190	PTH2R	S	158	F	S158F	Likely pathogenic	1	1	1	388
MUT:PTH2R:Tyr91Cys	PROT:P49190	PTH2R	Y	91	C	Y91C	Likely benign	0	1	1	455
MUT:PTH:Cys18Arg	PROT:P01270	PTH	C	18	R	C18R	Pathogenic	1	1	4	3
MUT:PTH:Ser23Pro	PROT:P01270	PTH	S	23	P	S23P	Pathogenic	1	1	4	0
MUT:PTH:Ser32Pro	PROT:P01270	PTH	S	32	P	S32P	Likely pathogenic	1	1	4	0
MUT:PTK7:Ala777Val	PROT:Q13308	PTK7	A	777	V	A777V	Benign	0	1	11	121
MUT:PTK7:Thr675Met	PROT:Q13308	PTK7	T	675	M	T675M	Likely benign	0	1	11	205
MUT:PTOV1:Lys212Met	PROT:Q86YD1	PTOV1	K	212	M	K212M	Likely benign	0	1	11	0
MUT:PTPA:Ala136Asp	PROT:Q15257	PTPA	A	136	D	A136D	Pathogenic	1	1	12	10
MUT:PTPA:Arg173Gln	PROT:Q15257	PTPA	R	173	Q	R173Q	Benign	0	7	12	47
MUT:PTPA:Met263Arg	PROT:Q15257	PTPA	M	263	R	M263R	Pathogenic	1	1	12	14
MUT:PTPN12:Glu706Lys	PROT:Q05209	PTPN12	E	706	K	E706K	Benign	0	1	41	2
MUT:PTPN12:Lys61Arg	PROT:Q05209	PTPN12	K	61	R	K61R	Pathogenic	1	1	41	3
MUT:PTPN12:Thr573Ala	PROT:Q05209	PTPN12	T	573	A	T573A	Benign	0	1	41	0
MUT:PTPN12:Val322Ile	PROT:Q05209	PTPN12	V	322	I	V322I	Benign	0	1	41	1
MUT:PTPN13:Arg2205Gln	PROT:Q12923	PTPN13	R	2205	Q	R2205Q	Likely benign	0	11	46	34
MUT:PTPN13:Arg500Pro	PROT:Q12923	PTPN13	R	500	P	R500P	Likely benign	0	1	46	1
MUT:PTPN13:Asp599Tyr	PROT:Q12923	PTPN13	D	599	Y	D599Y	Likely benign	0	1	46	32
MUT:PTPN13:Ile421Val	PROT:Q12923	PTPN13	I	421	V	I421V	Likely benign	0	1	46	73
MUT:PTPN13:Leu90Val	PROT:Q12923	PTPN13	L	90	V	L90V	Benign/Likely benign	0	1	46	12
MUT:PTPN14:Arg491Trp	PROT:Q15678	PTPN14	R	491	W	R491W	Likely benign	0	2	46	5
MUT:PTPN14:Arg640His	PROT:Q15678	PTPN14	R	640	H	R640H	Likely pathogenic	1	1	46	2
MUT:PTPN14:Arg668Cys	PROT:Q15678	PTPN14	R	668	C	R668C	Likely benign	0	1	46	2
MUT:PTPN14:Glu189Gly	PROT:Q15678	PTPN14	E	189	G	E189G	Benign	0	1	46	85
MUT:PTPN1:Gly209Arg	PROT:P18031	PTPN1	G	209	R	G209R	Pathogenic	1	1	21	30
MUT:PTPN6:Ala339Val	PROT:P29350	PTPN6	A	339	V	A339V	Likely benign	0	1	28	21
MUT:PTPRC:Arg341Lys	PROT:P08575	PTPRC	R	341	K	R341K	Likely benign	0	1	8	519
MUT:PTPRC:Asn199Ser	PROT:P08575	PTPRC	N	199	S	N199S	Likely benign	0	1	8	661
MUT:PTPRC:Asn351Ser	PROT:P08575	PTPRC	N	351	S	N351S	Benign/Likely benign	0	5	8	509
MUT:PTPRC:Asp123His	PROT:P08575	PTPRC	D	123	H	D123H	Benign/Likely benign	0	1	8	737
MUT:PTPRC:Gly1305Ala	PROT:P08575	PTPRC	G	1305	A	G1305A	Likely benign	0	1	8	300
MUT:PTPRC:His570Gln	PROT:P08575	PTPRC	H	570	Q	H570Q	Benign/Likely benign	0	1	8	290
MUT:PTPRC:Ile1050Val	PROT:P08575	PTPRC	I	1050	V	I1050V	Likely benign	0	1	8	45
MUT:PTPRC:Ile296Leu	PROT:P08575	PTPRC	I	296	L	I296L	Benign/Likely benign	0	1	8	564
MUT:PTPRC:Ile398Thr	PROT:P08575	PTPRC	I	398	T	I398T	Likely benign	0	1	8	462
MUT:PTPRC:Ser1299Arg	PROT:P08575	PTPRC	S	1299	R	S1299R	Likely pathogenic	1	1	8	294
MUT:PTPRC:Thr193Ala	PROT:P08575	PTPRC	T	193	A	T193A	Benign/Likely benign	0	2	8	667
MUT:PTPRC:Thr216Pro	PROT:P08575	PTPRC	T	216	P	T216P	Likely benign	0	2	8	644
MUT:PTPRC:Thr423Ile	PROT:P08575	PTPRC	T	423	I	T423I	Benign/Likely benign	0	1	8	437
MUT:PTPRC:Thr52Ala	PROT:P08575	PTPRC	T	52	A	T52A	Benign/Likely benign	0	1	8	808
MUT:PTPRC:Thr62Ile	PROT:P08575	PTPRC	T	62	I	T62I	Likely benign	0	1	8	798
MUT:PTPRD:Ala722Ser	PROT:P23468	PTPRD	A	722	S	A722S	Likely benign	0	1	10	168
MUT:PTPRD:Arg995Cys	PROT:P23468	PTPRD	R	995	C	R995C	Benign	0	1	10	104
MUT:PTPRD:Gln1010His	PROT:P23468	PTPRD	Q	1010	H	Q1010H	Benign	0	3	10	119
MUT:PTPRD:Gln447Glu	PROT:P23468	PTPRD	Q	447	E	Q447E	Benign	0	1	10	170
MUT:PTPRD:Glu1078Asp	PROT:P23468	PTPRD	E	1078	D	E1078D	Benign	0	1	10	187
MUT:PTPRD:Pro941Ala	PROT:P23468	PTPRD	P	941	A	P941A	Benign	0	1	10	50
MUT:PTPRD:Thr186Ser	PROT:P23468	PTPRD	T	186	S	T186S	Likely benign	0	1	10	91
MUT:PTPRD:Val31Ile	PROT:P23468	PTPRD	V	31	I	V31I	Likely benign	0	1	10	246
MUT:PTPRD:Val892Ala	PROT:P23468	PTPRD	V	892	A	V892A	Benign/Likely benign	0	1	10	1
MUT:PTPRK:Asn162Ser	PROT:Q15262	PTPRK	N	162	S	N162S	Benign/Likely benign	0	15	12	65
MUT:PTPRM:Met809Ile	PROT:P28827	PTPRM	M	809	I	M809I	Likely benign	0	2	8	11
MUT:PTPRM:Ser39Arg	PROT:P28827	PTPRM	S	39	R	S39R	Benign	0	1	8	687
MUT:PTPRO:Ala11Ser	PROT:Q16827	PTPRO	A	11	S	A11S	Benign/Likely benign	0	1	3	854
MUT:PTPRO:Asn238Tyr	PROT:Q16827	PTPRO	N	238	Y	N238Y	Likely benign	0	1	3	627
MUT:PTPRO:Asn370Lys	PROT:Q16827	PTPRO	N	370	K	N370K	Benign/Likely benign	0	1	3	495
MUT:PTPRO:Asp1074Glu	PROT:Q16827	PTPRO	D	1074	E	D1074E	Benign	0	1	3	132
MUT:PTPRO:Ile228Val	PROT:Q16827	PTPRO	I	228	V	I228V	Benign/Likely benign	0	1	3	637
MUT:PTPRO:Ser1177Phe	PROT:Q16827	PTPRO	S	1177	F	S1177F	Likely benign	0	2	3	29
MUT:PTPRS:Arg1032Gln	PROT:Q13332	PTPRS	R	1032	Q	R1032Q	Likely benign	0	1	14	4
MUT:PTPRS:Arg872Cys	PROT:Q13332	PTPRS	R	872	C	R872C	Likely benign	0	1	14	155
MUT:PTPRS:Cys27Tyr	PROT:Q13332	PTPRS	C	27	Y	C27Y	Benign	0	1	14	192
MUT:PTPRS:Pro1255Ala	PROT:Q13332	PTPRS	P	1255	A	P1255A	Benign	0	1	14	27
MUT:PTPRS:Ser1852Leu	PROT:Q13332	PTPRS	S	1852	L	S1852L	Likely benign	0	1	14	28
MUT:PTPRS:Val113Ala	PROT:Q13332	PTPRS	V	113	A	V113A	Benign	0	1	14	106
MUT:PTPRS:Val1586Met	PROT:Q13332	PTPRS	V	1586	M	V1586M	Likely pathogenic	1	1	14	120
MUT:PTPRU:Ala670Thr	PROT:Q92729	PTPRU	A	670	T	A670T	Benign	0	1	5	107
MUT:PTPRU:Arg633Gln	PROT:Q92729	PTPRU	R	633	Q	R633Q	Likely benign	0	1	5	70
MUT:PTPRU:Lys379Thr	PROT:Q92729	PTPRU	K	379	T	K379T	Likely benign	0	1	5	96
MUT:PTPRU:Met1389Leu	PROT:Q92729	PTPRU	M	1389	L	M1389L	Likely pathogenic	1	1	5	526
MUT:PTPRU:Pro844Leu	PROT:Q92729	PTPRU	P	844	L	P844L	Likely pathogenic	1	1	5	4
MUT:PTPRU:Val833Phe	PROT:Q92729	PTPRU	V	833	F	V833F	Benign	0	1	5	15
MUT:PTRH2:Gln85Pro	PROT:Q9Y3E5	PTRH2	Q	85	P	Q85P	Pathogenic	1	2	10	2
MUT:PTRH2:Gly18Ser	PROT:Q9Y3E5	PTRH2	G	18	S	G18S	Likely benign	0	1	10	30
MUT:PTRH2:Val21Ile	PROT:Q9Y3E5	PTRH2	V	21	I	V21I	Benign/Likely benign	0	1	10	27
MUT:PTRH2:Val23Ala	PROT:Q9Y3E5	PTRH2	V	23	A	V23A	Likely pathogenic	1	1	10	25
MUT:PTRHD1:Arg122Trp	PROT:Q6GMV3	PTRHD1	R	122	W	R122W	Pathogenic	1	1	4	12
MUT:PTRHD1:Cys52Tyr	PROT:Q6GMV3	PTRHD1	C	52	Y	C52Y	Pathogenic	1	2	4	40
MUT:PTRHD1:His53Tyr	PROT:Q6GMV3	PTRHD1	H	53	Y	H53Y	Pathogenic	1	1	4	39
MUT:PTRHD1:Pro43Thr	PROT:Q6GMV3	PTRHD1	P	43	T	P43T	Benign	0	1	4	49
MUT:PUF60:Arg123Pro	PROT:Q9UHX1	PUF60	R	123	P	R123P	Likely pathogenic	1	1	9	11
MUT:PUF60:Arg123Trp	PROT:Q9UHX1	PUF60	R	123	W	R123W	Likely pathogenic	1	1	9	11
MUT:PUF60:Arg130His	PROT:Q9UHX1	PUF60	R	130	H	R130H	Pathogenic/Likely pathogenic	1	2	9	18
MUT:PUF60:Arg130Pro	PROT:Q9UHX1	PUF60	R	130	P	R130P	Likely pathogenic	1	1	9	18
MUT:PUF60:Arg430Gln	PROT:Q9UHX1	PUF60	R	430	Q	R430Q	Likely benign	0	1	9	24
MUT:PUF60:Arg430Leu	PROT:Q9UHX1	PUF60	R	430	L	R430L	Likely benign	0	1	9	24
MUT:PUF60:Arg467Gly	PROT:Q9UHX1	PUF60	R	467	G	R467G	Likely pathogenic	1	1	9	13
MUT:PUF60:Asp159Asn	PROT:Q9UHX1	PUF60	D	159	N	D159N	Pathogenic/Likely pathogenic	1	1	9	9
MUT:PUF60:Asp553Gly	PROT:Q9UHX1	PUF60	D	553	G	D553G	Pathogenic	1	1	9	64
MUT:PUF60:Cys487Arg	PROT:Q9UHX1	PUF60	C	487	R	C487R	Likely pathogenic	1	1	9	2
MUT:PUF60:Glu181Lys	PROT:Q9UHX1	PUF60	E	181	K	E181K	Pathogenic/Likely pathogenic	1	1	9	13
MUT:PUF60:Gly134Ser	PROT:Q9UHX1	PUF60	G	134	S	G134S	Likely pathogenic	1	1	9	22
MUT:PUF60:Gly16Ala	PROT:Q9UHX1	PUF60	G	16	A	G16A	Likely benign	0	1	9	18
MUT:PUF60:Gly491Arg	PROT:Q9UHX1	PUF60	G	491	R	G491R	Pathogenic/Likely pathogenic	1	1	9	2
MUT:PUF60:His169Tyr	PROT:Q9UHX1	PUF60	H	169	Y	H169Y	Likely pathogenic	1	1	9	1
MUT:PUF60:Ser406Gly	PROT:Q9UHX1	PUF60	S	406	G	S406G	Likely benign	0	1	9	0
MUT:PUF60:Thr39Ile	PROT:Q9UHX1	PUF60	T	39	I	T39I	Likely benign	0	1	9	5
MUT:PUF60:Val27Ala	PROT:Q9UHX1	PUF60	V	27	A	V27A	Likely benign	0	1	9	7
MUT:PUF60:Val299Glu	PROT:Q9UHX1	PUF60	V	299	E	V299E	Likely pathogenic	1	1	9	15
MUT:PUF60:Val483Ala	PROT:Q9UHX1	PUF60	V	483	A	V483A	Pathogenic	1	1	9	6
MUT:PUF60:Val517Gly	PROT:Q9UHX1	PUF60	V	517	G	V517G	Likely pathogenic	1	1	9	28
MUT:PUF60:Val542Glu	PROT:Q9UHX1	PUF60	V	542	E	V542E	Likely pathogenic	1	1	9	53
MUT:PUM1:Ala666Ser	PROT:Q14671	PUM1	A	666	S	A666S	Likely benign	0	1	52	43
MUT:PUM1:Arg1139Trp	PROT:Q14671	PUM1	R	1139	W	R1139W	Likely pathogenic	1	2	52	11
MUT:PUM1:Arg1147Trp	PROT:Q14671	PUM1	R	1147	W	R1147W	Pathogenic/Likely pathogenic	1	2	52	3
MUT:PUM1:Arg74His	PROT:Q14671	PUM1	R	74	H	R74H	Likely pathogenic	1	1	52	1
MUT:PUM1:Asn280Ser	PROT:Q14671	PUM1	N	280	S	N280S	Likely benign	0	1	52	18
MUT:PUM1:Asn617Ser	PROT:Q14671	PUM1	N	617	S	N617S	Likely benign	0	1	52	92
MUT:PUM1:Asp16Tyr	PROT:Q14671	PUM1	D	16	Y	D16Y	Likely pathogenic	1	1	52	3
MUT:PUM1:Gln88Pro	PROT:Q14671	PUM1	Q	88	P	Q88P	Likely benign	0	1	52	10
MUT:PUM1:Ile952Val	PROT:Q14671	PUM1	I	952	V	I952V	Benign/Likely benign	0	10	52	11
MUT:PUM1:Met1118Ile	PROT:Q14671	PUM1	M	1118	I	M1118I	Likely benign	0	1	52	2
MUT:PUM1:Met340Leu	PROT:Q14671	PUM1	M	340	L	M340L	Benign	0	1	52	35
MUT:PUM1:Pro512Ala	PROT:Q14671	PUM1	P	512	A	P512A	Likely benign	0	1	52	197
MUT:PUM3:Thr414Ser	PROT:Q15397	PUM3	T	414	S	T414S	Benign	0	6	15	22
MUT:PUS1:Ala359Val	PROT:Q9Y606	PUS1	A	359	V	A359V	Likely benign	0	1	4	10
MUT:PUS1:Arg144Gln	PROT:Q9Y606	PUS1	R	144	Q	R144Q	Likely pathogenic	1	1	4	6
MUT:PUS1:Arg144Trp	PROT:Q9Y606	PUS1	R	144	W	R144W	Pathogenic/Likely pathogenic	1	2	4	6
MUT:PUS1:Arg283Lys	PROT:Q9Y606	PUS1	R	283	K	R283K	Likely benign	0	1	4	86
MUT:PUS1:Arg295Trp	PROT:Q9Y606	PUS1	R	295	W	R295W	Likely pathogenic	1	1	4	74
MUT:PUS1:Asp133Asn	PROT:Q9Y606	PUS1	D	133	N	D133N	Benign/Likely benign	0	2	4	5
MUT:PUS1:Gln389Arg	PROT:Q9Y606	PUS1	Q	389	R	Q389R	Likely benign	0	1	4	20
MUT:PUS1:Lys110Arg	PROT:Q9Y606	PUS1	K	110	R	K110R	Likely benign	0	1	4	28
MUT:PUS1:Met1Arg	PROT:Q9Y606	PUS1	M	1	R	M1R	Likely pathogenic	1	2	4	137
MUT:PUS1:Met1Leu	PROT:Q9Y606	PUS1	M	1	L	M1L	Likely pathogenic	1	1	4	137
MUT:PUS1:Pro37Arg	PROT:Q9Y606	PUS1	P	37	R	P37R	Benign/Likely benign	0	1	4	101
MUT:PUS1:Thr405Met	PROT:Q9Y606	PUS1	T	405	M	T405M	Likely benign	0	2	4	10
MUT:PUS7:Arg410Cys	PROT:Q96PZ0	PUS7	R	410	C	R410C	Likely pathogenic	1	1	20	69
MUT:PUS7:Asp494Glu	PROT:Q96PZ0	PUS7	D	494	E	D494E	Likely benign	0	1	20	1
MUT:PUS7:Asp503Tyr	PROT:Q96PZ0	PUS7	D	503	Y	D503Y	Pathogenic/Likely pathogenic	1	1	20	8
MUT:PUS7:Cys93Arg	PROT:Q96PZ0	PUS7	C	93	R	C93R	Likely benign	0	1	20	3
MUT:PUS7:Glu180Lys	PROT:Q96PZ0	PUS7	E	180	K	E180K	Likely benign	0	1	20	4
MUT:PUS7:His123Tyr	PROT:Q96PZ0	PUS7	H	123	Y	H123Y	Benign	0	1	20	4
MUT:PUS7:Ile167Val	PROT:Q96PZ0	PUS7	I	167	V	I167V	Likely benign	0	1	20	9
MUT:PUS7:Tyr374Ser	PROT:Q96PZ0	PUS7	Y	374	S	Y374S	Likely pathogenic	1	1	20	50
MUT:PUS7:Val196Phe	PROT:Q96PZ0	PUS7	V	196	F	V196F	Likely pathogenic	1	1	20	17
MUT:PUS7:Val390Ala	PROT:Q96PZ0	PUS7	V	390	A	V390A	Likely pathogenic	1	1	20	66
MUT:PVR:Ala295Thr	PROT:P15151	PVR	A	295	T	A295T	Benign	0	1	2	103
MUT:PVR:Ala67Thr	PROT:P15151	PVR	A	67	T	A67T	Benign	0	1	2	331
MUT:PVR:Asn316Ser	PROT:P15151	PVR	N	316	S	N316S	Likely benign	0	1	2	82
MUT:PVR:Glu226Lys	PROT:P15151	PVR	E	226	K	E226K	Benign	0	1	2	172
MUT:PWWP2A:Asp548Glu	PROT:Q96N64	PWWP2A	D	548	E	D548E	Likely benign	0	2	6	344
MUT:PYCR2:Ala181Ser	PROT:Q96C36	PYCR2	A	181	S	A181S	Likely pathogenic	1	1	8	65
MUT:PYCR2:Ala69Thr	PROT:Q96C36	PYCR2	A	69	T	A69T	Likely benign	0	1	8	38
MUT:PYCR2:Arg119Cys	PROT:Q96C36	PYCR2	R	119	C	R119C	Pathogenic/Likely pathogenic	1	1	8	3
MUT:PYCR2:Arg119His	PROT:Q96C36	PYCR2	R	119	H	R119H	Likely pathogenic	1	1	8	3
MUT:PYCR2:Arg251Cys	PROT:Q96C36	PYCR2	R	251	C	R251C	Pathogenic	1	1	8	1
MUT:PYCR2:Asp229Gly	PROT:Q96C36	PYCR2	D	229	G	D229G	Likely pathogenic	1	1	8	23
MUT:PYCR2:Cys232Gly	PROT:Q96C36	PYCR2	C	232	G	C232G	Pathogenic	1	1	8	20
MUT:PYCR2:Gly177Arg	PROT:Q96C36	PYCR2	G	177	R	G177R	Likely pathogenic	1	1	8	61
MUT:PYCR2:Tyr13Cys	PROT:Q96C36	PYCR2	Y	13	C	Y13C	Likely benign	0	1	8	13
MUT:PYCR2:Val134Met	PROT:Q96C36	PYCR2	V	134	M	V134M	Likely pathogenic	1	1	8	18
MUT:PYCR2:Val193Met	PROT:Q96C36	PYCR2	V	193	M	V193M	Likely pathogenic	1	1	8	59
MUT:PYCR2:Val258Ala	PROT:Q96C36	PYCR2	V	258	A	V258A	Likely pathogenic	1	1	8	6
MUT:PYCR2:Val86Gly	PROT:Q96C36	PYCR2	V	86	G	V86G	Likely pathogenic	1	1	8	21
MUT:PYHIN1:Arg469Lys	PROT:Q6K0P9	PYHIN1	R	469	K	R469K	Benign	0	1	9	15
MUT:PYROXD1:Asn155Ser	PROT:Q8WU10	PYROXD1	N	155	S	N155S	Pathogenic	1	1	12	13
MUT:PYROXD1:Gln372His	PROT:Q8WU10	PYROXD1	Q	372	H	Q372H	Pathogenic	1	1	12	52
MUT:PYROXD1:Lys278Asn	PROT:Q8WU10	PYROXD1	K	278	N	K278N	Benign/Likely benign	0	1	12	0
MUT:PYROXD1:Thr31Ile	PROT:Q8WU10	PYROXD1	T	31	I	T31I	Likely benign	0	1	12	77
MUT:PYROXD1:Tyr354Cys	PROT:Q8WU10	PYROXD1	Y	354	C	Y354C	Pathogenic	1	1	12	67
MUT:QRSL1:Asn263Ser	PROT:Q9H0R6	QRSL1	N	263	S	N263S	Benign	0	1	2	132
MUT:QRSL1:Glu387Asp	PROT:Q9H0R6	QRSL1	E	387	D	E387D	Likely benign	0	1	2	8
MUT:QRSL1:Gly117Glu	PROT:Q9H0R6	QRSL1	G	117	E	G117E	Pathogenic	1	1	2	103
MUT:QRSL1:Gly133Val	PROT:Q9H0R6	QRSL1	G	133	V	G133V	Pathogenic/Likely pathogenic	1	2	2	119
MUT:QRSL1:Ile232Val	PROT:Q9H0R6	QRSL1	I	232	V	I232V	Benign	0	1	2	163
MUT:QRSL1:Pro288Leu	PROT:Q9H0R6	QRSL1	P	288	L	P288L	Likely benign	0	1	2	107
MUT:QRSL1:Val355Leu	PROT:Q9H0R6	QRSL1	V	355	L	V355L	Benign	0	1	2	40
MUT:RAB11B:Ala68Thr	PROT:Q15907	RAB11B	A	68	T	A68T	Pathogenic/Likely pathogenic	1	1	13	5
MUT:RAB11B:Asp66Tyr	PROT:Q15907	RAB11B	D	66	Y	D66Y	Likely pathogenic	1	1	13	7
MUT:RAB11B:Ser29Pro	PROT:Q15907	RAB11B	S	29	P	S29P	Likely pathogenic	1	1	13	5
MUT:RAB11B:Val22Leu	PROT:Q15907	RAB11B	V	22	L	V22L	Pathogenic	1	1	13	2
MUT:RAB11B:Val22Met	PROT:Q15907	RAB11B	V	22	M	V22M	Pathogenic/Likely pathogenic	1	1	13	2
MUT:RAB18:Ala198Thr	PROT:Q9NP72	RAB18	A	198	T	A198T	Benign	0	2	12	4
MUT:RAB18:Leu24Gln	PROT:Q9NP72	RAB18	L	24	Q	L24Q	Pathogenic	1	1	12	3
MUT:RAB18:Thr91Ile	PROT:Q9NP72	RAB18	T	91	I	T91I	Likely pathogenic	1	1	12	17
MUT:RAB18:Thr95Arg	PROT:Q9NP72	RAB18	T	95	R	T95R	Pathogenic	1	1	12	21
MUT:RAB27A:Ala152Pro	PROT:P51159	RAB27A	A	152	P	A152P	Pathogenic	1	1	8	8
MUT:RAB27A:Ala76Val	PROT:P51159	RAB27A	A	76	V	A76V	Pathogenic	1	1	8	1
MUT:RAB27A:Ala87Ser	PROT:P51159	RAB27A	A	87	S	A87S	Likely pathogenic	1	1	8	4
MUT:RAB27A:Arg80Thr	PROT:P51159	RAB27A	R	80	T	R80T	Pathogenic	1	1	8	3
MUT:RAB27A:Arg82Cys	PROT:P51159	RAB27A	R	82	C	R82C	Pathogenic/Likely pathogenic	1	3	8	1
MUT:RAB27A:Asp74His	PROT:P51159	RAB27A	D	74	H	D74H	Likely pathogenic	1	1	8	1
MUT:RAB27A:Gly77Arg	PROT:P51159	RAB27A	G	77	R	G77R	Likely pathogenic	1	1	8	2
MUT:RAB27A:Leu130Pro	PROT:P51159	RAB27A	L	130	P	L130P	Pathogenic	1	1	8	14
MUT:RAB27A:Lys134Glu	PROT:P51159	RAB27A	K	134	E	K134E	Pathogenic	1	1	8	10
MUT:RAB27A:Phe46Cys	PROT:P51159	RAB27A	F	46	C	F46C	Pathogenic	1	1	8	29
MUT:RAB27A:Ser115Arg	PROT:P51159	RAB27A	S	115	R	S115R	Likely pathogenic	1	1	8	29
MUT:RAB27A:Ser135Asn	PROT:P51159	RAB27A	S	135	N	S135N	Likely benign	0	1	8	9
MUT:RAB27A:Ser56Asn	PROT:P51159	RAB27A	S	56	N	S56N	Benign/Likely benign	0	2	8	19
MUT:RAB27A:Thr41Pro	PROT:P51159	RAB27A	T	41	P	T41P	Likely pathogenic	1	1	8	34
MUT:RAB27A:Trp73Arg	PROT:P51159	RAB27A	W	73	R	W73R	Likely pathogenic	1	1	8	2
MUT:RAB27A:Trp73Gly	PROT:P51159	RAB27A	W	73	G	W73G	Pathogenic	1	1	8	2
MUT:RAB27A:Tyr159Cys	PROT:P51159	RAB27A	Y	159	C	Y159C	Likely pathogenic	1	1	8	15
MUT:RAB27A:Tyr159His	PROT:P51159	RAB27A	Y	159	H	Y159H	Likely pathogenic	1	1	8	15
MUT:RAB27A:Val143Ala	PROT:P51159	RAB27A	V	143	A	V143A	Likely pathogenic	1	1	8	1
MUT:RAB27A:Val143Met	PROT:P51159	RAB27A	V	143	M	V143M	Likely pathogenic	1	1	8	1
MUT:RAB28:Cys217Trp	PROT:P51157	RAB28	C	217	W	C217W	Pathogenic/Likely pathogenic	1	1	6	33
MUT:RAB28:Gly24Ala	PROT:P51157	RAB28	G	24	A	G24A	Likely pathogenic	1	1	6	15
MUT:RAB28:His144Tyr	PROT:P51157	RAB28	H	144	Y	H144Y	Likely pathogenic	1	1	6	1
MUT:RAB29:Gln104Glu	PROT:O14966	RAB29	Q	104	E	Q104E	Benign	0	1	10	32
MUT:RAB34:Arg211His	PROT:P0DI83	RAB34	R	211	H	R211H	Pathogenic	1	1	1	198
MUT:RAB34:Glu218Lys	PROT:P0DI83	RAB34	E	218	K	E218K	Pathogenic	1	1	1	205
MUT:RAB34:Ile85Thr	PROT:P0DI83	RAB34	I	85	T	I85T	Likely pathogenic	1	2	1	72
MUT:RAB3GAP1:Arg336Cys	PROT:Q15042	RAB3GAP1	R	336	C	R336C	Benign/Likely benign	0	2	28	19
MUT:RAB3GAP1:Asn598Ser	PROT:Q15042	RAB3GAP1	N	598	S	N598S	Benign	0	2	28	56
MUT:RAB3GAP1:Glu24Val	PROT:Q15042	RAB3GAP1	E	24	V	E24V	Pathogenic	1	1	28	5
MUT:RAB3GAP1:Ile305Val	PROT:Q15042	RAB3GAP1	I	305	V	I305V	Benign	0	2	28	11
MUT:RAB3GAP1:Ile746Val	PROT:Q15042	RAB3GAP1	I	746	V	I746V	Likely benign	0	1	28	26
MUT:RAB3GAP1:Ile770Val	PROT:Q15042	RAB3GAP1	I	770	V	I770V	Likely benign	0	1	28	2
MUT:RAB3GAP1:Leu223Phe	PROT:Q15042	RAB3GAP1	L	223	F	L223F	Benign	0	7	28	8
MUT:RAB3GAP1:Leu460Arg	PROT:Q15042	RAB3GAP1	L	460	R	L460R	Likely pathogenic	1	1	28	11
MUT:RAB3GAP1:Pro436Leu	PROT:Q15042	RAB3GAP1	P	436	L	P436L	Likely benign	0	2	28	13
MUT:RAB3GAP1:Pro934Ala	PROT:Q15042	RAB3GAP1	P	934	A	P934A	Benign/Likely benign	0	1	28	5
MUT:RAB3GAP1:Pro934His	PROT:Q15042	RAB3GAP1	P	934	H	P934H	Likely benign	0	1	28	5
MUT:RAB3GAP1:Thr18Pro	PROT:Q15042	RAB3GAP1	T	18	P	T18P	Pathogenic	1	1	28	9
MUT:RAB3GAP1:Tyr442Cys	PROT:Q15042	RAB3GAP1	Y	442	C	Y442C	Benign/Likely benign	0	4	28	7
MUT:RAB3GAP2:Ala1254Val	PROT:Q9H2M9	RAB3GAP2	A	1254	V	A1254V	Likely benign	0	1	29	69
MUT:RAB3GAP2:Ala428Glu	PROT:Q9H2M9	RAB3GAP2	A	428	E	A428E	Likely pathogenic	1	1	29	5
MUT:RAB3GAP2:Arg426Cys	PROT:Q9H2M9	RAB3GAP2	R	426	C	R426C	Pathogenic/Likely pathogenic	1	2	29	3
MUT:RAB3GAP2:Arg460Gln	PROT:Q9H2M9	RAB3GAP2	R	460	Q	R460Q	Likely pathogenic	1	1	29	5
MUT:RAB3GAP2:Asn570Ser	PROT:Q9H2M9	RAB3GAP2	N	570	S	N570S	Benign	0	3	29	3
MUT:RAB3GAP2:Asn638Ser	PROT:Q9H2M9	RAB3GAP2	N	638	S	N638S	Likely benign	0	1	29	1
MUT:RAB3GAP2:Asp1129Asn	PROT:Q9H2M9	RAB3GAP2	D	1129	N	D1129N	Likely pathogenic	1	1	29	56
MUT:RAB3GAP2:Glu1001Lys	PROT:Q9H2M9	RAB3GAP2	E	1001	K	E1001K	Likely benign	0	1	29	23
MUT:RAB3GAP2:Gly1052Cys	PROT:Q9H2M9	RAB3GAP2	G	1052	C	G1052C	Pathogenic	1	2	29	74
MUT:RAB3GAP2:Leu1331Ile	PROT:Q9H2M9	RAB3GAP2	L	1331	I	L1331I	Benign/Likely benign	0	3	29	28
MUT:RAB3GAP2:Ser1092Thr	PROT:Q9H2M9	RAB3GAP2	S	1092	T	S1092T	Benign	0	2	29	93
MUT:RAB3GAP2:Thr313Ile	PROT:Q9H2M9	RAB3GAP2	T	313	I	T313I	Likely benign	0	1	29	59
MUT:RAB3GAP2:Thr863Ala	PROT:Q9H2M9	RAB3GAP2	T	863	A	T863A	Benign	0	15	29	12
MUT:RAB3GAP2:Val1134Leu	PROT:Q9H2M9	RAB3GAP2	V	1134	L	V1134L	Likely benign	0	1	29	51
MUT:RAB40AL:Ile259Val	PROT:P0C0E4	RAB40AL	I	259	V	I259V	Likely benign	0	1	1	126
MUT:RAB5C:Gln80Arg	PROT:P51148	RAB5C	Q	80	R	Q80R	Likely pathogenic	1	1	7	44
MUT:RAC1:Ala159Thr	PROT:P63000	RAC1	A	159	T	A159T	Pathogenic	1	1	16	2
MUT:RAC1:Ala95Val	PROT:P63000	RAC1	A	95	V	A95V	Likely benign	0	1	16	1
MUT:RAC1:Arg68Gly	PROT:P63000	RAC1	R	68	G	R68G	Pathogenic	1	1	16	3
MUT:RAC1:Arg68Ser	PROT:P63000	RAC1	R	68	S	R68S	Pathogenic	1	1	16	3
MUT:RAC1:Asn26Ser	PROT:P63000	RAC1	N	26	S	N26S	Pathogenic	1	1	16	21
MUT:RAC1:Asn39Ser	PROT:P63000	RAC1	N	39	S	N39S	Pathogenic/Likely pathogenic	1	3	16	25
MUT:RAC1:Asn43Lys	PROT:P63000	RAC1	N	43	K	N43K	Likely pathogenic	1	1	16	21
MUT:RAC1:Asp57Glu	PROT:P63000	RAC1	D	57	E	D57E	Likely pathogenic	1	1	16	7
MUT:RAC1:Cys157Tyr	PROT:P63000	RAC1	C	157	Y	C157Y	Likely pathogenic	1	1	16	4
MUT:RAC1:Cys18Tyr	PROT:P63000	RAC1	C	18	Y	C18Y	Pathogenic	1	1	16	13
MUT:RAC1:Gln61Glu	PROT:P63000	RAC1	Q	61	E	Q61E	Pathogenic	1	1	16	3
MUT:RAC1:Glu62Lys	PROT:P63000	RAC1	E	62	K	E62K	Pathogenic	1	1	16	2
MUT:RAC1:Gly60Arg	PROT:P63000	RAC1	G	60	R	G60R	Likely pathogenic	1	1	16	4
MUT:RAC1:Pro73Leu	PROT:P63000	RAC1	P	73	L	P73L	Pathogenic/Likely pathogenic	1	1	16	2
MUT:RAC1:Ser71Phe	PROT:P63000	RAC1	S	71	F	S71F	Pathogenic/Likely pathogenic	1	1	16	0
MUT:RAC1:Trp56Cys	PROT:P63000	RAC1	W	56	C	W56C	Likely pathogenic	1	1	16	8
MUT:RAC1:Tyr32His	PROT:P63000	RAC1	Y	32	H	Y32H	Pathogenic	1	1	16	27
MUT:RAC1:Tyr64Asp	PROT:P63000	RAC1	Y	64	D	Y64D	Pathogenic/Likely pathogenic	1	1	16	0
MUT:RAC1:Tyr64Cys	PROT:P63000	RAC1	Y	64	C	Y64C	Likely pathogenic	1	1	16	0
MUT:RAC1:Tyr64His	PROT:P63000	RAC1	Y	64	H	Y64H	Likely pathogenic	1	1	16	0
MUT:RAC1:Val51Leu	PROT:P63000	RAC1	V	51	L	V51L	Likely pathogenic	1	2	16	13
MUT:RAC1:Val51Met	PROT:P63000	RAC1	V	51	M	V51M	Pathogenic/Likely pathogenic	1	1	16	13
MUT:RAC2:Asn92Thr	PROT:P15153	RAC2	N	92	T	N92T	Pathogenic	1	1	13	4
MUT:RAC2:Asp122Asn	PROT:P15153	RAC2	D	122	N	D122N	Likely benign	0	1	13	1
MUT:RAC2:Asp57Asn	PROT:P15153	RAC2	D	57	N	D57N	Pathogenic	1	1	13	7
MUT:RAC2:Gln61Lys	PROT:P15153	RAC2	Q	61	K	Q61K	Likely pathogenic	1	1	13	3
MUT:RAC2:Glu62Lys	PROT:P15153	RAC2	E	62	K	E62K	Pathogenic/Likely pathogenic	1	2	13	2
MUT:RAC2:Pro34His	PROT:P15153	RAC2	P	34	H	P34H	Likely pathogenic	1	2	13	2
MUT:RAC3:Asn92Lys	PROT:P60763	RAC3	N	92	K	N92K	Likely pathogenic	1	1	5	4
MUT:RAC3:Asp63Asn	PROT:P60763	RAC3	D	63	N	D63N	Pathogenic/Likely pathogenic	1	1	5	1
MUT:RAC3:Asp65Asn	PROT:P60763	RAC3	D	65	N	D65N	Likely pathogenic	1	1	5	1
MUT:RAC3:Glu62Lys	PROT:P60763	RAC3	E	62	K	E62K	Pathogenic	1	1	5	2
MUT:RAC3:Gly12Arg	PROT:P60763	RAC3	G	12	R	G12R	Likely pathogenic	1	1	5	52
MUT:RAC3:Lys116Asn	PROT:P60763	RAC3	K	116	N	K116N	Pathogenic/Likely pathogenic	1	1	5	17
MUT:RAC3:Phe192Ser	PROT:P60763	RAC3	F	192	S	F192S	Likely benign	0	1	5	8
MUT:RAC3:Pro29Arg	PROT:P60763	RAC3	P	29	R	P29R	Likely pathogenic	1	1	5	35
MUT:RAC3:Tyr64Cys	PROT:P60763	RAC3	Y	64	C	Y64C	Likely pathogenic	1	1	5	0
MUT:RAD1:Glu281Gly	PROT:O60671	RAD1	E	281	G	E281G	Benign	0	1	7	1
MUT:RAD1:Gly114Asp	PROT:O60671	RAD1	G	114	D	G114D	Benign	0	1	7	64
MUT:RAD1:Thr104Ser	PROT:O60671	RAD1	T	104	S	T104S	Benign	0	1	7	54
MUT:RAD1:Tyr203Cys	PROT:O60671	RAD1	Y	203	C	Y203C	Likely benign	0	1	7	2
MUT:RAD51:Ala293Thr	PROT:Q06609	RAD51	A	293	T	A293T	Pathogenic/Likely pathogenic	1	2	9	16
MUT:RAD51:Arg250Gln	PROT:Q06609	RAD51	R	250	Q	R250Q	Pathogenic	1	1	9	59
MUT:RAD51:Glu258Lys	PROT:Q06609	RAD51	E	258	K	E258K	Likely pathogenic	1	1	9	51
MUT:RAD51:Gly179Ser	PROT:Q06609	RAD51	G	179	S	G179S	Likely benign	0	1	9	23
MUT:RAD51:Gly305Glu	PROT:Q06609	RAD51	G	305	E	G305E	Likely pathogenic	1	1	9	4
MUT:RAD51:His294Arg	PROT:Q06609	RAD51	H	294	R	H294R	Likely pathogenic	1	1	9	15
MUT:RAD51:Ser233Leu	PROT:Q06609	RAD51	S	233	L	S233L	Likely benign	0	1	9	76
MUT:RAD51:Thr131Pro	PROT:Q06609	RAD51	T	131	P	T131P	Pathogenic	1	1	9	24
MUT:RAD51:Thr139Met	PROT:Q06609	RAD51	T	139	M	T139M	Likely benign	0	1	9	17
MUT:RAD51:Thr197Ile	PROT:Q06609	RAD51	T	197	I	T197I	Likely pathogenic	1	1	9	41
MUT:RAD54B:Asn593Ser	PROT:Q9Y620	RAD54B	N	593	S	N593S	Benign	0	1	14	3
MUT:RAD54B:Asp418Tyr	PROT:Q9Y620	RAD54B	D	418	Y	D418Y	Pathogenic	1	1	14	42
MUT:RAD54B:Leu30Val	PROT:Q9Y620	RAD54B	L	30	V	L30V	Benign	0	16	14	16
MUT:RAD54L2:Gln130Arg	PROT:Q9Y4B4	RAD54L2	Q	130	R	Q130R	Likely pathogenic	1	1	32	3
MUT:RALGDS:Lys222Arg	PROT:Q12967	RALGDS	K	222	R	K222R	Likely benign	0	2	2	447
MUT:RALGPS1:Gly310Ser	PROT:Q5JS13	RALGPS1	G	310	S	G310S	Likely benign	0	2	8	1
MUT:RANBP17:Ala177Thr	PROT:Q9H2T7	RANBP17	A	177	T	A177T	Benign	0	1	7	7
MUT:RANBP17:Asn91Ser	PROT:Q9H2T7	RANBP17	N	91	S	N91S	Likely benign	0	1	7	1
MUT:RANBP17:Glu353Gln	PROT:Q9H2T7	RANBP17	E	353	Q	E353Q	Likely benign	0	1	7	57
MUT:RANBP17:Lys852Thr	PROT:Q9H2T7	RANBP17	K	852	T	K852T	Likely benign	0	1	7	29
MUT:RANBP17:Phe5Leu	PROT:Q9H2T7	RANBP17	F	5	L	F5L	Benign	0	1	7	3
MUT:RANBP17:Thr183Ser	PROT:Q9H2T7	RANBP17	T	183	S	T183S	Benign	0	2	7	1
MUT:RANBP17:Thr764Ile	PROT:Q9H2T7	RANBP17	T	764	I	T764I	Benign	0	1	7	59
MUT:RAP1B:Ala59Gly	PROT:P61224	RAP1B	A	59	G	A59G	Likely pathogenic	1	1	11	17
MUT:RAP1B:Gly12Arg	PROT:P61224	RAP1B	G	12	R	G12R	Likely pathogenic	1	1	11	1
MUT:RAP1B:Gly12Glu	PROT:P61224	RAP1B	G	12	E	G12E	Pathogenic	1	2	11	1
MUT:RAP1B:Gly12Val	PROT:P61224	RAP1B	G	12	V	G12V	Pathogenic	1	1	11	1
MUT:RAP1B:Gly60Arg	PROT:P61224	RAP1B	G	60	R	G60R	Pathogenic	1	1	11	18
MUT:RAPGEF5:His811Tyr	PROT:Q92565	RAPGEF5	H	811	Y	H811Y	Likely pathogenic	1	1	3	436
MUT:RAPSN:Ala142Asp	PROT:Q13702	RAPSN	A	142	D	A142D	Pathogenic/Likely pathogenic	1	2	1	83
MUT:RAPSN:Ala153Ser	PROT:Q13702	RAPSN	A	153	S	A153S	Likely benign	0	2	1	94
MUT:RAPSN:Ala246Val	PROT:Q13702	RAPSN	A	246	V	A246V	Pathogenic/Likely pathogenic	1	2	1	187
MUT:RAPSN:Arg164Cys	PROT:Q13702	RAPSN	R	164	C	R164C	Pathogenic/Likely pathogenic	1	4	1	105
MUT:RAPSN:Arg164Gly	PROT:Q13702	RAPSN	R	164	G	R164G	Pathogenic/Likely pathogenic	1	1	1	105
MUT:RAPSN:Arg205Gln	PROT:Q13702	RAPSN	R	205	Q	R205Q	Benign	0	3	1	146
MUT:RAPSN:Arg397Trp	PROT:Q13702	RAPSN	R	397	W	R397W	Likely benign	0	1	1	338
MUT:RAPSN:Arg58Cys	PROT:Q13702	RAPSN	R	58	C	R58C	Benign/Likely benign	0	4	1	1
MUT:RAPSN:Arg91Cys	PROT:Q13702	RAPSN	R	91	C	R91C	Likely pathogenic	1	1	1	32
MUT:RAPSN:Asn88Lys	PROT:Q13702	RAPSN	N	88	K	N88K	Pathogenic/Likely pathogenic	1	7	1	29
MUT:RAPSN:Glu147Lys	PROT:Q13702	RAPSN	E	147	K	E147K	Pathogenic/Likely pathogenic	1	3	1	88
MUT:RAPSN:Glu162Gly	PROT:Q13702	RAPSN	E	162	G	E162G	Likely pathogenic	1	1	1	103
MUT:RAPSN:Glu162Lys	PROT:Q13702	RAPSN	E	162	K	E162K	Pathogenic/Likely pathogenic	1	4	1	103
MUT:RAPSN:Leu14Pro	PROT:Q13702	RAPSN	L	14	P	L14P	Pathogenic/Likely pathogenic	1	3	1	45
MUT:RAPSN:Met1Val	PROT:Q13702	RAPSN	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	1	58
MUT:RAPSN:Phe139Ser	PROT:Q13702	RAPSN	F	139	S	F139S	Pathogenic	1	1	1	80
MUT:RAPSN:Phe81Leu	PROT:Q13702	RAPSN	F	81	L	F81L	Benign	0	3	1	22
MUT:RAPSN:Val165Met	PROT:Q13702	RAPSN	V	165	M	V165M	Pathogenic/Likely pathogenic	1	3	1	106
MUT:RAPSN:Val45Met	PROT:Q13702	RAPSN	V	45	M	V45M	Pathogenic/Likely pathogenic	1	3	1	14
MUT:RARB:Ala225Asp	PROT:P10826	RARB	A	225	D	A225D	Likely pathogenic	1	1	2	148
MUT:RARB:Ala248Thr	PROT:P10826	RARB	A	248	T	A248T	Likely benign	0	1	2	149
MUT:RARB:Ala32Gly	PROT:P10826	RARB	A	32	G	A32G	Likely benign	0	1	2	45
MUT:RARB:Ala7Val	PROT:P10826	RARB	A	7	V	A7V	Likely benign	0	2	2	70
MUT:RARB:Arg387Cys	PROT:P10826	RARB	R	387	C	R387C	Pathogenic/Likely pathogenic	1	2	2	10
MUT:RARB:Arg387Ser	PROT:P10826	RARB	R	387	S	R387S	Pathogenic	1	1	2	10
MUT:RARB:Asn307Thr	PROT:P10826	RARB	N	307	T	N307T	Benign	0	2	2	90
MUT:RARB:Asp214Tyr	PROT:P10826	RARB	D	214	Y	D214Y	Likely pathogenic	1	1	2	137
MUT:RARB:Asp281Val	PROT:P10826	RARB	D	281	V	D281V	Likely pathogenic	1	1	2	116
MUT:RARB:Gly103Cys	PROT:P10826	RARB	G	103	C	G103C	Likely pathogenic	1	1	2	26
MUT:RARB:Gly282Ser	PROT:P10826	RARB	G	282	S	G282S	Pathogenic/Likely pathogenic	1	1	2	115
MUT:RARB:Gly294Val	PROT:P10826	RARB	G	294	V	G294V	Likely pathogenic	1	1	2	103
MUT:RARB:Gly296Ala	PROT:P10826	RARB	G	296	A	G296A	Likely pathogenic	1	1	2	101
MUT:RARB:Gly384Asp	PROT:P10826	RARB	G	384	D	G384D	Likely pathogenic	1	1	2	13
MUT:RARB:His291Leu	PROT:P10826	RARB	H	291	L	H291L	Likely pathogenic	1	1	2	106
MUT:RARB:Ile389Val	PROT:P10826	RARB	I	389	V	I389V	Likely benign	0	1	2	8
MUT:RARB:Leu213Pro	PROT:P10826	RARB	L	213	P	L213P	Pathogenic/Likely pathogenic	1	2	2	136
MUT:RARB:Leu402Pro	PROT:P10826	RARB	L	402	P	L402P	Likely pathogenic	1	1	2	5
MUT:RARB:Phe279Val	PROT:P10826	RARB	F	279	V	F279V	Likely pathogenic	1	1	2	118
MUT:RARB:Pro400Leu	PROT:P10826	RARB	P	400	L	P400L	Likely pathogenic	1	1	2	3
MUT:RARB:Ser439Thr	PROT:P10826	RARB	S	439	T	S439T	Benign	0	2	2	42
MUT:RARB:Thr203Met	PROT:P10826	RARB	T	203	M	T203M	Likely benign	0	1	2	126
MUT:RARB:Trp218Cys	PROT:P10826	RARB	W	218	C	W218C	Pathogenic	1	1	2	141
MUT:RARG:Pro82Leu	PROT:P13631	RARG	P	82	L	P82L	Likely benign	0	1	8	3
MUT:RARS1:Ala439Asp	PROT:P54136	RARS1	A	439	D	A439D	Likely pathogenic	1	2	22	32
MUT:RARS1:Arg28Trp	PROT:P54136	RARS1	R	28	W	R28W	Benign/Likely benign	0	1	22	32
MUT:RARS1:Arg512Gln	PROT:P54136	RARS1	R	512	Q	R512Q	Pathogenic/Likely pathogenic	1	1	22	4
MUT:RARS1:Arg59Gln	PROT:P54136	RARS1	R	59	Q	R59Q	Likely benign	0	1	22	1
MUT:RARS1:Asp2Gly	PROT:P54136	RARS1	D	2	G	D2G	Pathogenic	1	1	22	58
MUT:RARS1:Met1Thr	PROT:P54136	RARS1	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	22	59
MUT:RARS1:Met1Val	PROT:P54136	RARS1	M	1	V	M1V	Pathogenic	1	1	22	59
MUT:RARS1:Val328Ile	PROT:P54136	RARS1	V	328	I	V328I	Benign	0	1	22	7
MUT:RARS1:Val376Glu	PROT:P54136	RARS1	V	376	E	V376E	Benign/Likely benign	0	2	22	1
MUT:RARS1:Val3Ile	PROT:P54136	RARS1	V	3	I	V3I	Benign	0	1	22	57
MUT:RASA3:Val85Ala	PROT:Q14644	RASA3	V	85	A	V85A	Likely pathogenic	1	1	23	5
MUT:RASGRP1:Leu164Ile	PROT:O95267	RASGRP1	L	164	I	L164I	Benign	0	1	17	4
MUT:RASGRP1:Thr214Ile	PROT:O95267	RASGRP1	T	214	I	T214I	Pathogenic	1	1	17	1
MUT:RASIP1:Arg843Cys	PROT:Q5U651	RASIP1	R	843	C	R843C	Likely benign	0	1	10	119
MUT:RASIP1:Asp943Asn	PROT:Q5U651	RASIP1	D	943	N	D943N	Likely benign	0	1	10	19
MUT:RBBP5:Ala522Val	PROT:Q15291	RBBP5	A	522	V	A522V	Likely benign	0	1	18	3
MUT:RBBP5:Thr232Ile	PROT:Q15291	RBBP5	T	232	I	T232I	Pathogenic	1	1	18	20
MUT:RBCK1:Asn387Ser	PROT:Q9BYM8	RBCK1	N	387	S	N387S	Likely pathogenic	1	2	6	19
MUT:RBCK1:Asp23Glu	PROT:Q9BYM8	RBCK1	D	23	E	D23E	Likely benign	0	1	6	6
MUT:RBFOX3:Asp91Asn	PROT:A6NFN3	RBFOX3	D	91	N	D91N	Likely benign	0	2	2	28
MUT:RBFOX3:Pro214His	PROT:A6NFN3	RBFOX3	P	214	H	P214H	Benign	0	2	2	47
MUT:RBFOX3:Pro4Thr	PROT:A6NFN3	RBFOX3	P	4	T	P4T	Benign	0	2	2	59
MUT:RBFOX3:Thr183Met	PROT:A6NFN3	RBFOX3	T	183	M	T183M	Likely benign	0	1	2	16
MUT:RBL2:Ile459Val	PROT:Q08999	RBL2	I	459	V	I459V	Likely benign	0	1	37	42
MUT:RBM10:Ala631Pro	PROT:P98175	RBM10	A	631	P	A631P	Benign/Likely benign	0	1	31	9
MUT:RBM10:Arg157Gln	PROT:P98175	RBM10	R	157	Q	R157Q	Likely benign	0	1	31	37
MUT:RBM10:Arg163Trp	PROT:P98175	RBM10	R	163	W	R163W	Likely pathogenic	1	1	31	31
MUT:RBM10:Arg46His	PROT:P98175	RBM10	R	46	H	R46H	Likely benign	0	1	31	2
MUT:RBM10:Arg766Cys	PROT:P98175	RBM10	R	766	C	R766C	Likely pathogenic	1	1	31	15
MUT:RBM10:Arg776Trp	PROT:P98175	RBM10	R	776	W	R776W	Likely pathogenic	1	1	31	5
MUT:RBM10:Asn392Ser	PROT:P98175	RBM10	N	392	S	N392S	Likely benign	0	1	31	9
MUT:RBM10:Asp474Val	PROT:P98175	RBM10	D	474	V	D474V	Benign/Likely benign	0	1	31	57
MUT:RBM10:Asp489Asn	PROT:P98175	RBM10	D	489	N	D489N	Benign/Likely benign	0	1	31	42
MUT:RBM10:Gln891Lys	PROT:P98175	RBM10	Q	891	K	Q891K	Likely benign	0	1	31	5
MUT:RBM10:Trp658Cys	PROT:P98175	RBM10	W	658	C	W658C	Likely pathogenic	1	1	31	5
MUT:RBM12:Thr170Ala	PROT:Q9NTZ6	RBM12	T	170	A	T170A	Likely benign	0	1	15	166
MUT:RBM27:Met361Leu	PROT:Q9P2N5	RBM27	M	361	L	M361L	Likely benign	0	1	29	27
MUT:RBM28:Ala316Ser	PROT:Q9NW13	RBM28	A	316	S	A316S	Likely pathogenic	1	1	20	9
MUT:RBM28:Arg518Cys	PROT:Q9NW13	RBM28	R	518	C	R518C	Likely benign	0	1	20	121
MUT:RBM28:His693Tyr	PROT:Q9NW13	RBM28	H	693	Y	H693Y	Likely benign	0	1	20	15
MUT:RBM28:Leu351Pro	PROT:Q9NW13	RBM28	L	351	P	L351P	Pathogenic	1	1	20	5
MUT:RBM28:Ser712Leu	PROT:Q9NW13	RBM28	S	712	L	S712L	Likely benign	0	1	20	0
MUT:RBM5:Glu73Lys	PROT:P52756	RBM5	E	73	K	E73K	Likely pathogenic	1	1	12	4
MUT:RBM8A:Ile89Val	PROT:Q9Y5S9	RBM8A	I	89	V	I89V	Likely benign	0	1	11	11
MUT:RBMX:Asp130Tyr	PROT:P38159	RBMX	D	130	Y	D130Y	Likely pathogenic	1	1	65	4
MUT:RBMX:Gly13Arg	PROT:P38159	RBMX	G	13	R	G13R	Likely pathogenic	1	1	65	4
MUT:RBMX:Phe56Leu	PROT:P38159	RBMX	F	56	L	F56L	Likely pathogenic	1	1	65	1
MUT:RCC1:Met110Ile	PROT:P18754	RCC1	M	110	I	M110I	Pathogenic/Likely pathogenic	1	1	16	4
MUT:RCC1:Val261Met	PROT:P18754	RCC1	V	261	M	V261M	Pathogenic	1	1	16	13
MUT:RDH11:Arg218Trp	PROT:Q8TC12	RDH11	R	218	W	R218W	Likely benign	0	1	10	53
MUT:RDH11:Ile210Val	PROT:Q8TC12	RDH11	I	210	V	I210V	Likely benign	0	1	10	45
MUT:RDH5:Ala294Pro	PROT:Q92781	RDH5	A	294	P	A294P	Pathogenic	1	2	2	81
MUT:RDH5:Arg157Gln	PROT:Q92781	RDH5	R	157	Q	R157Q	Likely pathogenic	1	1	2	53
MUT:RDH5:Arg157Trp	PROT:Q92781	RDH5	R	157	W	R157W	Pathogenic	1	2	2	53
MUT:RDH5:Arg167His	PROT:Q92781	RDH5	R	167	H	R167H	Pathogenic/Likely pathogenic	1	1	2	43
MUT:RDH5:Arg280His	PROT:Q92781	RDH5	R	280	H	R280H	Pathogenic/Likely pathogenic	1	3	2	67
MUT:RDH5:Arg75His	PROT:Q92781	RDH5	R	75	H	R75H	Benign/Likely benign	0	1	2	135
MUT:RDH5:Asn28Asp	PROT:Q92781	RDH5	N	28	D	N28D	Likely benign	0	1	2	182
MUT:RDH5:Asp128Asn	PROT:Q92781	RDH5	D	128	N	D128N	Pathogenic/Likely pathogenic	1	1	2	82
MUT:RDH5:Gly238Ala	PROT:Q92781	RDH5	G	238	A	G238A	Likely pathogenic	1	1	2	25
MUT:RDH5:Gly238Trp	PROT:Q92781	RDH5	G	238	W	G238W	Pathogenic/Likely pathogenic	1	6	2	25
MUT:RDH5:Gly35Ser	PROT:Q92781	RDH5	G	35	S	G35S	Pathogenic	1	1	2	175
MUT:RDH5:Ile161Val	PROT:Q92781	RDH5	I	161	V	I161V	Benign/Likely benign	0	1	2	49
MUT:RDH5:Ile198Val	PROT:Q92781	RDH5	I	198	V	I198V	Likely benign	0	1	2	12
MUT:RDH5:Lys179Arg	PROT:Q92781	RDH5	K	179	R	K179R	Pathogenic	1	2	2	31
MUT:RDH5:Met253Arg	PROT:Q92781	RDH5	M	253	R	M253R	Pathogenic/Likely pathogenic	1	1	2	40
MUT:RDH5:Ser201Phe	PROT:Q92781	RDH5	S	201	F	S201F	Likely pathogenic	1	2	2	9
MUT:RDH5:Tyr281His	PROT:Q92781	RDH5	Y	281	H	Y281H	Pathogenic	1	1	2	68
MUT:RDH5:Val89Ile	PROT:Q92781	RDH5	V	89	I	V89I	Benign/Likely benign	0	1	2	121
MUT:REC114:Cys133Gly	PROT:Q7Z4M0	REC114	C	133	G	C133G	Pathogenic	1	1	1	11
MUT:REC114:Val148Met	PROT:Q7Z4M0	REC114	V	148	M	V148M	Benign	0	1	1	26
MUT:RECQL:Asn363Ser	PROT:P46063	RECQL	N	363	S	N363S	Benign/Likely benign	0	3	20	89
MUT:RECQL:Asp495His	PROT:P46063	RECQL	D	495	H	D495H	Benign/Likely benign	0	3	20	6
MUT:RECQL:Lys487Thr	PROT:P46063	RECQL	K	487	T	K487T	Benign	0	1	20	14
MUT:RECQL:Thr278Arg	PROT:P46063	RECQL	T	278	R	T278R	Benign	0	1	20	70
MUT:RECQL:Val102Ile	PROT:P46063	RECQL	V	102	I	V102I	Benign	0	1	20	3
MUT:REEP1:Ala20Glu	PROT:Q9H902	REEP1	A	20	E	A20E	Pathogenic/Likely pathogenic	1	3	5	79
MUT:REEP1:Ala20Pro	PROT:Q9H902	REEP1	A	20	P	A20P	Likely pathogenic	1	1	5	79
MUT:REEP1:Ala20Ser	PROT:Q9H902	REEP1	A	20	S	A20S	Likely pathogenic	1	1	5	79
MUT:REEP1:Ala20Val	PROT:Q9H902	REEP1	A	20	V	A20V	Likely pathogenic	1	1	5	79
MUT:REEP1:Arg265Lys	PROT:Q9H902	REEP1	R	265	K	R265K	Likely benign	0	1	5	113
MUT:REEP1:Arg270Cys	PROT:Q9H902	REEP1	R	270	C	R270C	Benign	0	2	5	118
MUT:REEP1:Asp56His	PROT:Q9H902	REEP1	D	56	H	D56H	Pathogenic	1	1	5	43
MUT:REEP1:Gly15Val	PROT:Q9H902	REEP1	G	15	V	G15V	Likely pathogenic	1	1	5	84
MUT:REEP1:Leu118Arg	PROT:Q9H902	REEP1	L	118	R	L118R	Likely pathogenic	1	1	5	4
MUT:REEP1:Leu59His	PROT:Q9H902	REEP1	L	59	H	L59H	Likely pathogenic	1	1	5	40
MUT:REEP1:Leu87Arg	PROT:Q9H902	REEP1	L	87	R	L87R	Pathogenic	1	1	5	12
MUT:REEP1:Met1Thr	PROT:Q9H902	REEP1	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	5	98
MUT:REEP1:Pro19Arg	PROT:Q9H902	REEP1	P	19	R	P19R	Likely pathogenic	1	1	5	80
MUT:REEP1:Pro19Leu	PROT:Q9H902	REEP1	P	19	L	P19L	Pathogenic/Likely pathogenic	1	1	5	80
MUT:REEP1:Pro263Leu	PROT:Q9H902	REEP1	P	263	L	P263L	Likely benign	0	1	5	111
MUT:REEP1:Ser23Pro	PROT:Q9H902	REEP1	S	23	P	S23P	Likely pathogenic	1	1	5	76
MUT:REEP1:Trp42Arg	PROT:Q9H902	REEP1	W	42	R	W42R	Pathogenic	1	2	5	57
MUT:REEP2:Met40Arg	PROT:Q9BRK0	REEP2	M	40	R	M40R	Pathogenic	1	1	7	57
MUT:REEP2:Phe72Tyr	PROT:Q9BRK0	REEP2	F	72	Y	F72Y	Pathogenic	1	1	7	25
MUT:REEP2:Val36Glu	PROT:Q9BRK0	REEP2	V	36	E	V36E	Pathogenic	1	1	7	61
MUT:RELA:Asp291Asn	PROT:Q04206	RELA	D	291	N	D291N	Benign/Likely benign	0	2	36	14
MUT:RELA:Gln508His	PROT:Q04206	RELA	Q	508	H	Q508H	Likely benign	0	1	36	3
MUT:RELA:Ile110Thr	PROT:Q04206	RELA	I	110	T	I110T	Likely pathogenic	1	1	36	2
MUT:RENBP:Ala210Val	PROT:P51606	RENBP	A	210	V	A210V	Benign	0	3	2	145
MUT:REPIN1:Val127Met	PROT:Q9BWE0	REPIN1	V	127	M	V127M	Likely benign	0	1	12	40
MUT:REPS1:Gln645Arg	PROT:Q96D71	REPS1	Q	645	R	Q645R	Likely benign	0	1	35	49
MUT:REPS1:Glu679Asp	PROT:Q96D71	REPS1	E	679	D	E679D	Benign	0	1	35	15
MUT:REPS1:Pro597Ser	PROT:Q96D71	REPS1	P	597	S	P597S	Benign/Likely benign	0	1	35	53
MUT:REPS1:Pro686Ser	PROT:Q96D71	REPS1	P	686	S	P686S	Benign/Likely benign	0	2	35	8
MUT:REPS1:Val78Leu	PROT:Q96D71	REPS1	V	78	L	V78L	Pathogenic	1	1	35	3
MUT:REST:Ala1055Val	PROT:Q13127	REST	A	1055	V	A1055V	Likely benign	0	1	12	7
MUT:REST:Ala793Val	PROT:Q13127	REST	A	793	V	A793V	Likely benign	0	1	12	43
MUT:REST:Cys415Ser	PROT:Q13127	REST	C	415	S	C415S	Likely pathogenic	1	2	12	85
MUT:REST:Gln746Lys	PROT:Q13127	REST	Q	746	K	Q746K	Benign/Likely benign	0	1	12	4
MUT:REST:Glu853Gln	PROT:Q13127	REST	E	853	Q	E853Q	Benign	0	1	12	103
MUT:REST:Gly92Arg	PROT:Q13127	REST	G	92	R	G92R	Benign/Likely benign	0	1	12	7
MUT:REST:Ile763Val	PROT:Q13127	REST	I	763	V	I763V	Likely benign	0	1	12	13
MUT:REST:Leu882Ile	PROT:Q13127	REST	L	882	I	L882I	Likely benign	0	1	12	89
MUT:REST:Lys569Ile	PROT:Q13127	REST	K	569	I	K569I	Likely benign	0	1	12	69
MUT:REST:Pro123Ala	PROT:Q13127	REST	P	123	A	P123A	Benign/Likely benign	0	1	12	38
MUT:REST:Pro736Ser	PROT:Q13127	REST	P	736	S	P736S	Benign/Likely benign	0	1	12	2
MUT:REST:Pro815Ser	PROT:Q13127	REST	P	815	S	P815S	Benign/Likely benign	0	1	12	65
MUT:REST:Val485Met	PROT:Q13127	REST	V	485	M	V485M	Likely benign	0	1	12	15
MUT:REST:Val670Met	PROT:Q13127	REST	V	670	M	V670M	Likely benign	0	1	12	64
MUT:RETREG3:Asn222His	PROT:Q86VR2	RETREG3	N	222	H	N222H	Likely pathogenic	1	1	17	14
MUT:RETSAT:Arg395Gln	PROT:Q6NUM9	RETSAT	R	395	Q	R395Q	Likely benign	0	1	12	58
MUT:REV3L:Arg187Trp	PROT:O60673	REV3L	R	187	W	R187W	Likely pathogenic	1	1	20	59
MUT:REV3L:Arg1970His	PROT:O60673	REV3L	R	1970	H	R1970H	Benign	0	1	20	201
MUT:REV3L:Arg2427Gln	PROT:O60673	REV3L	R	2427	Q	R2427Q	Likely benign	0	1	20	207
MUT:REV3L:Arg2762Gln	PROT:O60673	REV3L	R	2762	Q	R2762Q	Benign	0	1	20	542
MUT:REV3L:Arg438His	PROT:O60673	REV3L	R	438	H	R438H	Likely benign	0	1	20	11
MUT:REV3L:Asn1335Ser	PROT:O60673	REV3L	N	1335	S	N1335S	Likely benign	0	1	20	75
MUT:REV3L:Asn1795Ser	PROT:O60673	REV3L	N	1795	S	N1795S	Likely benign	0	1	20	71
MUT:REV3L:Asp1812His	PROT:O60673	REV3L	D	1812	H	D1812H	Benign	0	1	20	88
MUT:REV3L:Asp511Asn	PROT:O60673	REV3L	D	511	N	D511N	Likely benign	0	1	20	41
MUT:REV3L:Gln1309His	PROT:O60673	REV3L	Q	1309	H	Q1309H	Benign	0	5	20	101
MUT:REV3L:Glu2015Val	PROT:O60673	REV3L	E	2015	V	E2015V	Benign/Likely benign	0	1	20	156
MUT:REV3L:His696Leu	PROT:O60673	REV3L	H	696	L	H696L	Likely benign	0	1	20	8
MUT:REV3L:Ile1174Val	PROT:O60673	REV3L	I	1174	V	I1174V	Likely benign	0	1	20	44
MUT:REV3L:Ile2132Val	PROT:O60673	REV3L	I	2132	V	I2132V	Likely benign	0	1	20	39
MUT:REV3L:Met132Val	PROT:O60673	REV3L	M	132	V	M132V	Likely benign	0	1	20	4
MUT:REV3L:Pro1031Leu	PROT:O60673	REV3L	P	1031	L	P1031L	Likely benign	0	1	20	1
MUT:REV3L:Pro1791Ser	PROT:O60673	REV3L	P	1791	S	P1791S	Benign	0	1	20	67
MUT:REV3L:Pro697Ala	PROT:O60673	REV3L	P	697	A	P697A	Likely benign	0	1	20	7
MUT:REV3L:Ser1220Leu	PROT:O60673	REV3L	S	1220	L	S1220L	Benign	0	1	20	90
MUT:REV3L:Ser633Gly	PROT:O60673	REV3L	S	633	G	S633G	Benign	0	1	20	71
MUT:REV3L:Thr1224Ile	PROT:O60673	REV3L	T	1224	I	T1224I	Benign	0	1	20	94
MUT:REV3L:Thr496Ala	PROT:O60673	REV3L	T	496	A	T496A	Likely benign	0	1	20	26
MUT:REV3L:Tyr1156Cys	PROT:O60673	REV3L	Y	1156	C	Y1156C	Benign	0	4	20	26
MUT:REV3L:Val3064Ile	PROT:O60673	REV3L	V	3064	I	V3064I	Benign	0	1	20	844
MUT:REV3L:Val40Ile	PROT:O60673	REV3L	V	40	I	V40I	Likely benign	0	1	20	88
MUT:RFC4:Glu344Lys	PROT:P35249	RFC4	E	344	K	E344K	Pathogenic	1	1	23	14
MUT:RFC4:Leu289Arg	PROT:P35249	RFC4	L	289	R	L289R	Likely pathogenic	1	1	23	1
MUT:RFWD3:Ala297Thr	PROT:Q6PCD5	RFWD3	A	297	T	A297T	Likely benign	0	1	13	24
MUT:RFWD3:Ile639Lys	PROT:Q6PCD5	RFWD3	I	639	K	I639K	Pathogenic	1	1	13	19
MUT:RFWD3:Met367Thr	PROT:Q6PCD5	RFWD3	M	367	T	M367T	Benign	0	1	13	8
MUT:RFWD3:Met767Val	PROT:Q6PCD5	RFWD3	M	767	V	M767V	Likely benign	0	2	13	1
MUT:RFWD3:Ser361Phe	PROT:Q6PCD5	RFWD3	S	361	F	S361F	Benign/Likely benign	0	1	13	2
MUT:RFWD3:Thr90Asn	PROT:Q6PCD5	RFWD3	T	90	N	T90N	Benign	0	1	13	27
MUT:RFX1:Arg735Gln	PROT:P22670	RFX1	R	735	Q	R735Q	Benign	0	1	7	198
MUT:RFX1:Gly899Ser	PROT:P22670	RFX1	G	899	S	G899S	Benign	0	1	7	362
MUT:RFX2:Gly156Val	PROT:P48378	RFX2	G	156	V	G156V	Likely benign	0	5	7	48
MUT:RGR:Ser241Phe	PROT:P47804	RGR	S	241	F	S241F	Benign/Likely benign	0	2	2	22
MUT:RGS9:Arg623Pro	PROT:O75916	RGS9	R	623	P	R623P	Benign	0	1	5	204
MUT:RGS9:Arg79Lys	PROT:O75916	RGS9	R	79	K	R79K	Likely benign	0	1	5	62
MUT:RGS9:Gly544Arg	PROT:O75916	RGS9	G	544	R	G544R	Benign	0	1	5	125
MUT:RGS9:Pro106Gln	PROT:O75916	RGS9	P	106	Q	P106Q	Likely benign	0	1	5	35
MUT:RGS9:Ser626Pro	PROT:O75916	RGS9	S	626	P	S626P	Likely benign	0	1	5	207
MUT:RGS9:Trp299Arg	PROT:O75916	RGS9	W	299	R	W299R	Pathogenic	1	2	5	5
MUT:RHBDD3:Ala142Thr	PROT:Q9Y3P4	RHBDD3	A	142	T	A142T	Likely benign	0	1	1	232
MUT:RHBDF2:Ala220Thr	PROT:Q6PJF5	RHBDF2	A	220	T	A220T	Benign	0	2	26	7
MUT:RHBDF2:Ala332Val	PROT:Q6PJF5	RHBDF2	A	332	V	A332V	Benign/Likely benign	0	1	26	4
MUT:RHBDF2:Ala93Thr	PROT:Q6PJF5	RHBDF2	A	93	T	A93T	Benign/Likely benign	0	1	26	3
MUT:RHBDF2:Arg80Cys	PROT:Q6PJF5	RHBDF2	R	80	C	R80C	Benign/Likely benign	0	1	26	10
MUT:RHBDF2:Arg80His	PROT:Q6PJF5	RHBDF2	R	80	H	R80H	Benign/Likely benign	0	2	26	10
MUT:RHBDF2:Gln109His	PROT:Q6PJF5	RHBDF2	Q	109	H	Q109H	Benign/Likely benign	0	1	26	4
MUT:RHBDF2:Gly105Glu	PROT:Q6PJF5	RHBDF2	G	105	E	G105E	Benign/Likely benign	0	1	26	1
MUT:RHBDF2:His556Arg	PROT:Q6PJF5	RHBDF2	H	556	R	H556R	Likely benign	0	1	26	167
MUT:RHBDF2:Ile157Thr	PROT:Q6PJF5	RHBDF2	I	157	T	I157T	Pathogenic/Likely pathogenic	1	1	26	9
MUT:RHBDF2:Met562Val	PROT:Q6PJF5	RHBDF2	M	562	V	M562V	Benign/Likely benign	0	1	26	173
MUT:RHBDF2:Pro179Leu	PROT:Q6PJF5	RHBDF2	P	179	L	P179L	Benign	0	1	26	0
MUT:RHBDF2:Ser10Arg	PROT:Q6PJF5	RHBDF2	S	10	R	S10R	Benign	0	2	26	80
MUT:RHBDF2:Ser263Phe	PROT:Q6PJF5	RHBDF2	S	263	F	S263F	Benign	0	1	26	7
MUT:RHEB:Glu40Val	PROT:Q15382	RHEB	E	40	V	E40V	Likely pathogenic	1	1	5	24
MUT:RHEB:Tyr35Leu	PROT:Q15382	RHEB	Y	35	L	Y35L	Pathogenic	1	1	5	19
MUT:RHEX:Ala47Thr	PROT:Q6ZWK4	RHEX	A	47	T	A47T	Benign	0	1	3	9
MUT:RHEX:Val117Ile	PROT:Q6ZWK4	RHEX	V	117	I	V117I	Benign	0	1	3	15
MUT:RHOA:Arg70Gly	PROT:P61586	RHOA	R	70	G	R70G	Likely pathogenic	1	1	17	4
MUT:RHOA:Glu47Lys	PROT:P61586	RHOA	E	47	K	E47K	Pathogenic	1	2	17	5
MUT:RHOA:Gly17Val	PROT:P61586	RHOA	G	17	V	G17V	Pathogenic	1	2	17	2
MUT:RHOA:Pro71Ser	PROT:P61586	RHOA	P	71	S	P71S	Pathogenic	1	1	17	5
MUT:RHOT2:Ser375Arg	PROT:Q8IXI1	RHOT2	S	375	R	S375R	Likely benign	0	2	7	34
MUT:RIC1:Ala603Gly	PROT:Q4ADV7	RIC1	A	603	G	A603G	Likely benign	0	1	11	29
MUT:RIC1:Arg351Gly	PROT:Q4ADV7	RIC1	R	351	G	R351G	Likely benign	0	1	11	45
MUT:RIC1:Asn1204Ser	PROT:Q4ADV7	RIC1	N	1204	S	N1204S	Likely benign	0	6	11	32
MUT:RIC1:Pro443Arg	PROT:Q4ADV7	RIC1	P	443	R	P443R	Likely benign	0	1	11	47
MUT:RIC1:Pro778Leu	PROT:Q4ADV7	RIC1	P	778	L	P778L	Likely pathogenic	1	1	11	120
MUT:RIC1:Ser455Arg	PROT:Q4ADV7	RIC1	S	455	R	S455R	Likely benign	0	4	11	59
MUT:RICTOR:His442Arg	PROT:Q6R327	RICTOR	H	442	R	H442R	Likely pathogenic	1	1	84	35
MUT:RIGI:Arg546Gln	PROT:O95786	RIGI	R	546	Q	R546Q	Benign	0	9	28	88
MUT:RIGI:Arg71His	PROT:O95786	RIGI	R	71	H	R71H	Benign	0	1	28	25
MUT:RIGI:Asn245Ser	PROT:O95786	RIGI	N	245	S	N245S	Benign/Likely benign	0	1	28	11
MUT:RIGI:Asp529Glu	PROT:O95786	RIGI	D	529	E	D529E	Likely benign	0	1	28	71
MUT:RIGI:Asp580Glu	PROT:O95786	RIGI	D	580	E	D580E	Benign	0	1	28	64
MUT:RIGI:Cys268Phe	PROT:O95786	RIGI	C	268	F	C268F	Pathogenic	1	1	28	10
MUT:RIGI:Gln852Lys	PROT:O95786	RIGI	Q	852	K	Q852K	Likely benign	0	1	28	2
MUT:RIGI:Glu330Lys	PROT:O95786	RIGI	E	330	K	E330K	Likely pathogenic	1	1	28	72
MUT:RIGI:Glu373Ala	PROT:O95786	RIGI	E	373	A	E373A	Pathogenic	1	1	28	82
MUT:RIGI:Glu510Val	PROT:O95786	RIGI	E	510	V	E510V	Likely pathogenic	1	1	28	52
MUT:RIGI:Gly649Glu	PROT:O95786	RIGI	G	649	E	G649E	Likely benign	0	1	28	5
MUT:RIGI:Ile489Val	PROT:O95786	RIGI	I	489	V	I489V	Likely benign	0	1	28	31
MUT:RIGI:Phe33Leu	PROT:O95786	RIGI	F	33	L	F33L	Likely benign	0	1	28	12
MUT:RIN1:Gly460Ser	PROT:Q13671	RIN1	G	460	S	G460S	Likely benign	0	1	27	36
MUT:RIN2:Ala49Thr	PROT:Q8WYP3	RIN2	A	49	T	A49T	Likely benign	0	1	10	14
MUT:RIN2:Gly29Arg	PROT:Q8WYP3	RIN2	G	29	R	G29R	Benign	0	1	10	34
MUT:RIN2:Gly300Asp	PROT:Q8WYP3	RIN2	G	300	D	G300D	Likely benign	0	1	10	18
MUT:RIN2:His122Arg	PROT:Q8WYP3	RIN2	H	122	R	H122R	Benign/Likely benign	0	3	10	43
MUT:RIN2:His92Gln	PROT:Q8WYP3	RIN2	H	92	Q	H92Q	Likely benign	0	1	10	13
MUT:RIN2:Met616Val	PROT:Q8WYP3	RIN2	M	616	V	M616V	Likely benign	0	1	10	37
MUT:RIN2:Val656Ile	PROT:Q8WYP3	RIN2	V	656	I	V656I	Likely benign	0	1	10	3
MUT:RIPK1:Ala59Pro	PROT:Q13546	RIPK1	A	59	P	A59P	Likely benign	0	1	38	10
MUT:RIPK1:Asp324Asn	PROT:Q13546	RIPK1	D	324	N	D324N	Pathogenic	1	1	38	3
MUT:RIPK1:Asp324Gly	PROT:Q13546	RIPK1	D	324	G	D324G	Likely pathogenic	1	1	38	3
MUT:RIPK1:Asp324His	PROT:Q13546	RIPK1	D	324	H	D324H	Pathogenic	1	1	38	3
MUT:RIPK1:Asp324Tyr	PROT:Q13546	RIPK1	D	324	Y	D324Y	Pathogenic	1	1	38	3
MUT:RIPK1:Asp324Val	PROT:Q13546	RIPK1	D	324	V	D324V	Pathogenic	1	1	38	3
MUT:RIPK1:Glu234Lys	PROT:Q13546	RIPK1	E	234	K	E234K	Benign	0	1	38	28
MUT:RIPK4:Ala12Gly	PROT:P57078	RIPK4	A	12	G	A12G	Benign	0	1	1	172
MUT:RIPK4:Ala775Thr	PROT:P57078	RIPK4	A	775	T	A775T	Benign/Likely benign	0	2	1	591
MUT:RIPK4:Arg241His	PROT:P57078	RIPK4	R	241	H	R241H	Likely pathogenic	1	1	1	57
MUT:RIPK4:Arg780Gln	PROT:P57078	RIPK4	R	780	Q	R780Q	Likely benign	0	1	1	596
MUT:RIPK4:Asp669Glu	PROT:P57078	RIPK4	D	669	E	D669E	Likely benign	0	1	1	485
MUT:RIPK4:Asp729Asn	PROT:P57078	RIPK4	D	729	N	D729N	Likely benign	0	1	1	545
MUT:RIPK4:Glu284Lys	PROT:P57078	RIPK4	E	284	K	E284K	Pathogenic	1	1	1	100
MUT:RIPK4:Gly366Ser	PROT:P57078	RIPK4	G	366	S	G366S	Likely benign	0	1	1	182
MUT:RIPK4:Gly3Ser	PROT:P57078	RIPK4	G	3	S	G3S	Benign/Likely benign	0	1	1	181
MUT:RIPK4:Ile121Asn	PROT:P57078	RIPK4	I	121	N	I121N	Pathogenic	1	1	1	63
MUT:RIPK4:Ile81Asn	PROT:P57078	RIPK4	I	81	N	I81N	Pathogenic	1	1	1	103
MUT:RIPK4:Leu766Val	PROT:P57078	RIPK4	L	766	V	L766V	Likely benign	0	1	1	582
MUT:RIPK4:Met666Val	PROT:P57078	RIPK4	M	666	V	M666V	Benign	0	1	1	482
MUT:RIPK4:Pro307Leu	PROT:P57078	RIPK4	P	307	L	P307L	Likely benign	0	1	1	123
MUT:RIPK4:Pro701Ser	PROT:P57078	RIPK4	P	701	S	P701S	Benign/Likely benign	0	2	1	517
MUT:RIPK4:Ser367Ile	PROT:P57078	RIPK4	S	367	I	S367I	Likely benign	0	1	1	183
MUT:RIPK4:Tyr330Cys	PROT:P57078	RIPK4	Y	330	C	Y330C	Likely benign	0	1	1	146
MUT:RIPK4:Tyr671Cys	PROT:P57078	RIPK4	Y	671	C	Y671C	Likely benign	0	1	1	487
MUT:RIPK4:Val405Ile	PROT:P57078	RIPK4	V	405	I	V405I	Likely benign	0	1	1	221
MUT:RLIM:Arg127Gln	PROT:Q9NVW2	RLIM	R	127	Q	R127Q	Likely benign	0	1	19	37
MUT:RLIM:Arg240Gln	PROT:Q9NVW2	RLIM	R	240	Q	R240Q	Likely benign	0	1	19	4
MUT:RLIM:Arg365Cys	PROT:Q9NVW2	RLIM	R	365	C	R365C	Pathogenic/Likely pathogenic	1	1	19	12
MUT:RLIM:Arg387Cys	PROT:Q9NVW2	RLIM	R	387	C	R387C	Pathogenic/Likely pathogenic	1	2	19	34
MUT:RLIM:Arg599Cys	PROT:Q9NVW2	RLIM	R	599	C	R599C	Pathogenic	1	1	19	14
MUT:RLIM:Arg611Cys	PROT:Q9NVW2	RLIM	R	611	C	R611C	Likely pathogenic	1	1	19	26
MUT:RLIM:Asn178Thr	PROT:Q9NVW2	RLIM	N	178	T	N178T	Benign/Likely benign	0	1	19	14
MUT:RLIM:Asp598Asn	PROT:Q9NVW2	RLIM	D	598	N	D598N	Pathogenic/Likely pathogenic	1	1	19	13
MUT:RLIM:Gly331Glu	PROT:Q9NVW2	RLIM	G	331	E	G331E	Likely pathogenic	1	1	19	16
MUT:RLIM:Gly448Asp	PROT:Q9NVW2	RLIM	G	448	D	G448D	Likely benign	0	1	19	15
MUT:RLIM:Pro587Arg	PROT:Q9NVW2	RLIM	P	587	R	P587R	Pathogenic	1	1	19	2
MUT:RLIM:Ser453Gly	PROT:Q9NVW2	RLIM	S	453	G	S453G	Likely benign	0	1	19	10
MUT:RLIM:Ser459Leu	PROT:Q9NVW2	RLIM	S	459	L	S459L	Likely benign	0	1	19	4
MUT:RLIM:Ser500Phe	PROT:Q9NVW2	RLIM	S	500	F	S500F	Likely benign	0	1	19	37
MUT:RLIM:Ser6Phe	PROT:Q9NVW2	RLIM	S	6	F	S6F	Likely benign	0	1	19	3
MUT:RLIM:Thr196Ile	PROT:Q9NVW2	RLIM	T	196	I	T196I	Likely benign	0	1	19	0
MUT:RLIM:Thr310Ile	PROT:Q9NVW2	RLIM	T	310	I	T310I	Likely benign	0	1	19	34
MUT:RLIM:Tyr356Cys	PROT:Q9NVW2	RLIM	Y	356	C	Y356C	Pathogenic	1	3	19	3
MUT:RLIM:Tyr421Cys	PROT:Q9NVW2	RLIM	Y	421	C	Y421C	Likely pathogenic	1	1	19	42
MUT:RLIM:Tyr577His	PROT:Q9NVW2	RLIM	Y	577	H	Y577H	Likely pathogenic	1	1	19	5
MUT:RMP64:Glu133Lys	PROT:Q6NW34	RMP64	E	133	K	E133K	Benign	0	9	5	165
MUT:RMP64:Leu145Phe	PROT:Q6NW34	RMP64	L	145	F	L145F	Pathogenic	1	1	5	153
MUT:RMP64:Phe357Ile	PROT:Q6NW34	RMP64	F	357	I	F357I	Benign	0	1	5	29
MUT:RMP64:Pro31Ser	PROT:Q6NW34	RMP64	P	31	S	P31S	Benign	0	1	5	267
MUT:RMP64:Ser344Tyr	PROT:Q6NW34	RMP64	S	344	Y	S344Y	Benign	0	1	5	16
MUT:RNASEH2A:Ala279Thr	PROT:O75792	RNASEH2A	A	279	T	A279T	Likely benign	0	1	28	2
MUT:RNASEH2A:Ala92Val	PROT:O75792	RNASEH2A	A	92	V	A92V	Likely benign	0	1	28	6
MUT:RNASEH2A:Arg186Gln	PROT:O75792	RNASEH2A	R	186	Q	R186Q	Pathogenic/Likely pathogenic	1	3	28	3
MUT:RNASEH2A:Arg186Trp	PROT:O75792	RNASEH2A	R	186	W	R186W	Pathogenic/Likely pathogenic	1	3	28	3
MUT:RNASEH2A:Arg235Gln	PROT:O75792	RNASEH2A	R	235	Q	R235Q	Likely pathogenic	1	2	28	2
MUT:RNASEH2A:Arg235Pro	PROT:O75792	RNASEH2A	R	235	P	R235P	Likely pathogenic	1	1	28	2
MUT:RNASEH2A:Asp205Glu	PROT:O75792	RNASEH2A	D	205	E	D205E	Benign/Likely benign	0	1	28	1
MUT:RNASEH2A:Glu197Gly	PROT:O75792	RNASEH2A	E	197	G	E197G	Likely pathogenic	1	1	28	1
MUT:RNASEH2A:Gly107Glu	PROT:O75792	RNASEH2A	G	107	E	G107E	Likely pathogenic	1	1	28	4
MUT:RNASEH2A:Gly37Ser	PROT:O75792	RNASEH2A	G	37	S	G37S	Pathogenic	1	1	28	11
MUT:RNASEH2A:Leu202Ser	PROT:O75792	RNASEH2A	L	202	S	L202S	Benign/Likely benign	0	1	28	2
MUT:RNASEH2A:Lys221Arg	PROT:O75792	RNASEH2A	K	221	R	K221R	Benign/Likely benign	0	2	28	0
MUT:RNASEH2A:Trp193Arg	PROT:O75792	RNASEH2A	W	193	R	W193R	Likely pathogenic	1	1	28	1
MUT:RNASEH2A:Tyr287His	PROT:O75792	RNASEH2A	Y	287	H	Y287H	Pathogenic	1	1	28	10
MUT:RNASEH2B:Ala177Thr	PROT:Q5TBB1	RNASEH2B	A	177	T	A177T	Pathogenic/Likely pathogenic	1	8	22	2
MUT:RNASEH2B:Ala287Ser	PROT:Q5TBB1	RNASEH2B	A	287	S	A287S	Benign/Likely benign	0	1	22	3
MUT:RNASEH2B:Asp119Gly	PROT:Q5TBB1	RNASEH2B	D	119	G	D119G	Pathogenic/Likely pathogenic	1	2	22	17
MUT:RNASEH2B:Leu60Arg	PROT:Q5TBB1	RNASEH2B	L	60	R	L60R	Likely pathogenic	1	2	22	35
MUT:RNASEH2B:Thr163Ile	PROT:Q5TBB1	RNASEH2B	T	163	I	T163I	Pathogenic/Likely pathogenic	1	1	22	2
MUT:RNASEH2B:Thr263Ser	PROT:Q5TBB1	RNASEH2B	T	263	S	T263S	Benign	0	1	22	1
MUT:RNASEH2B:Thr299Ala	PROT:Q5TBB1	RNASEH2B	T	299	A	T299A	Benign/Likely benign	0	1	22	3
MUT:RNASEH2B:Val185Gly	PROT:Q5TBB1	RNASEH2B	V	185	G	V185G	Pathogenic/Likely pathogenic	1	1	22	6
MUT:RNF113A:Ser95Arg	PROT:O15541	RNF113A	S	95	R	S95R	Likely benign	0	1	18	5
MUT:RNF135:Ala126Val	PROT:Q8IUD6	RNF135	A	126	V	A126V	Likely benign	0	1	2	33
MUT:RNF135:Arg115Lys	PROT:Q8IUD6	RNF135	R	115	K	R115K	Benign	0	1	2	44
MUT:RNF135:His202Tyr	PROT:Q8IUD6	RNF135	H	202	Y	H202Y	Likely benign	0	1	2	6
MUT:RNF135:Pro98Ala	PROT:Q8IUD6	RNF135	P	98	A	P98A	Benign/Likely benign	0	1	2	61
MUT:RNF135:Trp415Cys	PROT:Q8IUD6	RNF135	W	415	C	W415C	Benign/Likely benign	0	1	2	219
MUT:RNF168:Ala101Val	PROT:Q8IYW5	RNF168	A	101	V	A101V	Likely benign	0	1	42	3
MUT:RNF168:Ala161Val	PROT:Q8IYW5	RNF168	A	161	V	A161V	Likely benign	0	1	42	12
MUT:RNF168:Arg350Lys	PROT:Q8IYW5	RNF168	R	350	K	R350K	Likely benign	0	1	42	9
MUT:RNF168:Asp103Asn	PROT:Q8IYW5	RNF168	D	103	N	D103N	Benign	0	1	42	1
MUT:RNF168:Cys378Arg	PROT:Q8IYW5	RNF168	C	378	R	C378R	Benign/Likely benign	0	1	42	28
MUT:RNF168:Glu170Lys	PROT:Q8IYW5	RNF168	E	170	K	E170K	Benign/Likely benign	0	2	42	3
MUT:RNF168:Glu413Lys	PROT:Q8IYW5	RNF168	E	413	K	E413K	Benign/Likely benign	0	2	42	1
MUT:RNF168:Lys387Arg	PROT:Q8IYW5	RNF168	K	387	R	K387R	Benign	0	1	42	19
MUT:RNF168:Pro401Gln	PROT:Q8IYW5	RNF168	P	401	Q	P401Q	Benign	0	1	42	5
MUT:RNF168:Pro494Leu	PROT:Q8IYW5	RNF168	P	494	L	P494L	Benign	0	1	42	1
MUT:RNF168:Pro510Ser	PROT:Q8IYW5	RNF168	P	510	S	P510S	Likely benign	0	1	42	4
MUT:RNF170:Ala38Val	PROT:Q96K19	RNF170	A	38	V	A38V	Likely benign	0	1	1	28
MUT:RNF170:Arg199Cys	PROT:Q96K19	RNF170	R	199	C	R199C	Pathogenic	1	2	1	189
MUT:RNF170:Cys107Trp	PROT:Q96K19	RNF170	C	107	W	C107W	Likely pathogenic	1	1	1	97
MUT:RNF170:Ser125Asn	PROT:Q96K19	RNF170	S	125	N	S125N	Benign/Likely benign	0	1	1	115
MUT:RNF213:Ala1135Val	PROT:Q63HN8	RNF213	A	1135	V	A1135V	Benign/Likely benign	0	2	97	56
MUT:RNF213:Ala1844Thr	PROT:Q63HN8	RNF213	A	1844	T	A1844T	Likely benign	0	1	97	127
MUT:RNF213:Ala324Gly	PROT:Q63HN8	RNF213	A	324	G	A324G	Benign	0	2	97	21
MUT:RNF213:Ala4399Thr	PROT:Q63HN8	RNF213	A	4399	T	A4399T	Benign	0	1	97	3
MUT:RNF213:Arg2945Cys	PROT:Q63HN8	RNF213	R	2945	C	R2945C	Likely benign	0	1	97	1
MUT:RNF213:Arg4131Cys	PROT:Q63HN8	RNF213	R	4131	C	R4131C	Pathogenic	1	1	97	10
MUT:RNF213:Arg4131His	PROT:Q63HN8	RNF213	R	4131	H	R4131H	Likely benign	0	1	97	10
MUT:RNF213:Asp4013Asn	PROT:Q63HN8	RNF213	D	4013	N	D4013N	Pathogenic	1	1	97	8
MUT:RNF213:Asp4122Ala	PROT:Q63HN8	RNF213	D	4122	A	D4122A	Likely pathogenic	1	1	97	6
MUT:RNF213:Asp4273Asn	PROT:Q63HN8	RNF213	D	4273	N	D4273N	Likely benign	0	1	97	9
MUT:RNF213:Cys118Arg	PROT:Q63HN8	RNF213	C	118	R	C118R	Benign	0	1	97	30
MUT:RNF213:Cys4017Tyr	PROT:Q63HN8	RNF213	C	4017	Y	C4017Y	Likely pathogenic	1	1	97	12
MUT:RNF213:Cys4020Phe	PROT:Q63HN8	RNF213	C	4020	F	C4020F	Likely pathogenic	1	1	97	14
MUT:RNF213:Gln2184Arg	PROT:Q63HN8	RNF213	Q	2184	R	Q2184R	Benign/Likely benign	0	1	97	48
MUT:RNF213:Gly2440Asp	PROT:Q63HN8	RNF213	G	2440	D	G2440D	Likely benign	0	1	97	9
MUT:RNF213:Gly2611Arg	PROT:Q63HN8	RNF213	G	2611	R	G2611R	Benign	0	1	97	17
MUT:RNF213:His4014Asn	PROT:Q63HN8	RNF213	H	4014	N	H4014N	Likely pathogenic	1	2	97	9
MUT:RNF213:Ile209Asn	PROT:Q63HN8	RNF213	I	209	N	I209N	Likely benign	0	2	97	8
MUT:RNF213:Ile3318Val	PROT:Q63HN8	RNF213	I	3318	V	I3318V	Benign/Likely benign	0	1	97	63
MUT:RNF213:Ile4535Thr	PROT:Q63HN8	RNF213	I	4535	T	I4535T	Benign/Likely benign	0	1	97	87
MUT:RNF213:Leu133Met	PROT:Q63HN8	RNF213	L	133	M	L133M	Likely benign	0	2	97	45
MUT:RNF213:Leu4627Val	PROT:Q63HN8	RNF213	L	4627	V	L4627V	Benign	0	1	97	5
MUT:RNF213:Lys4185Glu	PROT:Q63HN8	RNF213	K	4185	E	K4185E	Likely pathogenic	1	1	97	21
MUT:RNF213:Lys4732Glu	PROT:Q63HN8	RNF213	K	4732	E	K4732E	Benign	0	2	97	0
MUT:RNF213:Met270Thr	PROT:Q63HN8	RNF213	M	270	T	M270T	Benign	0	1	97	33
MUT:RNF213:Met321Thr	PROT:Q63HN8	RNF213	M	321	T	M321T	Benign	0	1	97	18
MUT:RNF213:Phe4120Leu	PROT:Q63HN8	RNF213	F	4120	L	F4120L	Likely pathogenic	1	2	97	4
MUT:RNF213:Ser102Cys	PROT:Q63HN8	RNF213	S	102	C	S102C	Likely benign	0	2	97	14
MUT:RNF213:Ser4118Phe	PROT:Q63HN8	RNF213	S	4118	F	S4118F	Pathogenic	1	1	97	2
MUT:RNF213:Ser4814Arg	PROT:Q63HN8	RNF213	S	4814	R	S4814R	Benign	0	1	97	1
MUT:RNF213:Thr1661Met	PROT:Q63HN8	RNF213	T	1661	M	T1661M	Benign	0	1	97	236
MUT:RNF213:Thr1705Lys	PROT:Q63HN8	RNF213	T	1705	K	T1705K	Benign/Likely benign	0	2	97	266
MUT:RNF213:Thr3243Ala	PROT:Q63HN8	RNF213	T	3243	A	T3243A	Benign	0	1	97	12
MUT:RNF213:Val1469Leu	PROT:Q63HN8	RNF213	V	1469	L	V1469L	Benign	0	1	97	44
MUT:RNF213:Val2052Met	PROT:Q63HN8	RNF213	V	2052	M	V2052M	Benign	0	1	97	31
MUT:RNF213:Val2757Ile	PROT:Q63HN8	RNF213	V	2757	I	V2757I	Likely benign	0	1	97	13
MUT:RNF213:Val3941Ile	PROT:Q63HN8	RNF213	V	3941	I	V3941I	Benign	0	1	97	16
MUT:RNF213:Val4941Glu	PROT:Q63HN8	RNF213	V	4941	E	V4941E	Likely pathogenic	1	1	97	14
MUT:RNF216:Ala50Gly	PROT:Q9NWF9	RNF216	A	50	G	A50G	Benign/Likely benign	0	2	2	426
MUT:RNF216:Ala860Val	PROT:Q9NWF9	RNF216	A	860	V	A860V	Likely benign	0	1	2	202
MUT:RNF216:Arg717Cys	PROT:Q9NWF9	RNF216	R	717	C	R717C	Pathogenic	1	1	2	59
MUT:RNF216:Arg751Cys	PROT:Q9NWF9	RNF216	R	751	C	R751C	Pathogenic	1	1	2	93
MUT:RNF216:Asn26Ser	PROT:Q9NWF9	RNF216	N	26	S	N26S	Likely benign	0	2	2	450
MUT:RNF216:Gln488Glu	PROT:Q9NWF9	RNF216	Q	488	E	Q488E	Likely benign	0	1	2	12
MUT:RNF216:Gly213Ala	PROT:Q9NWF9	RNF216	G	213	A	G213A	Benign	0	1	2	263
MUT:RNF216:Gly456Glu	PROT:Q9NWF9	RNF216	G	456	E	G456E	Pathogenic	1	1	2	20
MUT:RNF216:Met617Val	PROT:Q9NWF9	RNF216	M	617	V	M617V	Likely pathogenic	1	1	2	41
MUT:RNF216:Ser108Asn	PROT:Q9NWF9	RNF216	S	108	N	S108N	Likely benign	0	1	2	368
MUT:RNF216:Ser285Leu	PROT:Q9NWF9	RNF216	S	285	L	S285L	Benign/Likely benign	0	1	2	191
MUT:RNF216:Thr146Ile	PROT:Q9NWF9	RNF216	T	146	I	T146I	Likely benign	0	1	2	330
MUT:RNF216:Val341Ile	PROT:Q9NWF9	RNF216	V	341	I	V341I	Likely benign	0	1	2	135
MUT:RNF216:Val872Met	PROT:Q9NWF9	RNF216	V	872	M	V872M	Likely benign	0	1	2	214
MUT:RNF216:Val896Ile	PROT:Q9NWF9	RNF216	V	896	I	V896I	Likely benign	0	1	2	238
MUT:RNF2:Ser82Arg	PROT:Q99496	RNF2	S	82	R	S82R	Pathogenic	1	1	8	17
MUT:ROBO1:Arg522Gln	PROT:Q9Y6N7	ROBO1	R	522	Q	R522Q	Likely benign	0	2	38	408
MUT:ROBO1:Arg60Cys	PROT:Q9Y6N7	ROBO1	R	60	C	R60C	Likely benign	0	1	38	21
MUT:ROBO1:Arg922His	PROT:Q9Y6N7	ROBO1	R	922	H	R922H	Benign	0	1	38	8
MUT:ROBO1:Asp1600Glu	PROT:Q9Y6N7	ROBO1	D	1600	E	D1600E	Benign/Likely benign	0	2	38	4
MUT:ROBO1:Asp422Gly	PROT:Q9Y6N7	ROBO1	D	422	G	D422G	Pathogenic	1	1	38	341
MUT:ROBO1:Gln1272His	PROT:Q9Y6N7	ROBO1	Q	1272	H	Q1272H	Likely benign	0	1	38	6
MUT:ROBO1:Pro1187Leu	PROT:Q9Y6N7	ROBO1	P	1187	L	P1187L	Likely benign	0	1	38	53
MUT:ROBO1:Pro176Ser	PROT:Q9Y6N7	ROBO1	P	176	S	P176S	Likely pathogenic	1	2	38	95
MUT:ROBO1:Thr1135Ala	PROT:Q9Y6N7	ROBO1	T	1135	A	T1135A	Likely benign	0	1	38	9
MUT:ROBO1:Val1218Met	PROT:Q9Y6N7	ROBO1	V	1218	M	V1218M	Likely benign	0	2	38	22
MUT:ROBO1:Val1454Leu	PROT:Q9Y6N7	ROBO1	V	1454	L	V1454L	Benign/Likely benign	0	1	38	12
MUT:ROBO2:Ala390Val	PROT:Q9HCK4	ROBO2	A	390	V	A390V	Likely benign	0	1	10	401
MUT:ROBO2:Arg677His	PROT:Q9HCK4	ROBO2	R	677	H	R677H	Benign/Likely benign	0	2	10	114
MUT:ROBO2:Arg7Ser	PROT:Q9HCK4	ROBO2	R	7	S	R7S	Benign	0	2	10	784
MUT:ROBO2:Arg801Gln	PROT:Q9HCK4	ROBO2	R	801	Q	R801Q	Likely benign	0	1	10	10
MUT:ROBO2:Arg815Gln	PROT:Q9HCK4	ROBO2	R	815	Q	R815Q	Benign/Likely benign	0	1	10	24
MUT:ROBO2:Arg840His	PROT:Q9HCK4	ROBO2	R	840	H	R840H	Likely benign	0	1	10	49
MUT:ROBO2:Asn519Ile	PROT:Q9HCK4	ROBO2	N	519	I	N519I	Benign/Likely benign	0	2	10	272
MUT:ROBO2:Asp213Glu	PROT:Q9HCK4	ROBO2	D	213	E	D213E	Benign	0	1	10	578
MUT:ROBO2:Gly1422Ser	PROT:Q9HCK4	ROBO2	G	1422	S	G1422S	Benign	0	1	10	97
MUT:ROBO2:Ile602Thr	PROT:Q9HCK4	ROBO2	I	602	T	I602T	Benign	0	1	10	189
MUT:ROBO2:Pro1081His	PROT:Q9HCK4	ROBO2	P	1081	H	P1081H	Likely benign	0	1	10	46
MUT:ROBO2:Pro463Leu	PROT:Q9HCK4	ROBO2	P	463	L	P463L	Likely benign	0	1	10	328
MUT:ROBO2:Pro696Ser	PROT:Q9HCK4	ROBO2	P	696	S	P696S	Benign/Likely benign	0	2	10	95
MUT:ROBO2:Thr1156Ala	PROT:Q9HCK4	ROBO2	T	1156	A	T1156A	Likely benign	0	1	10	0
MUT:ROBO2:Thr984Ile	PROT:Q9HCK4	ROBO2	T	984	I	T984I	Likely benign	0	1	10	1
MUT:ROBO2:Tyr584Cys	PROT:Q9HCK4	ROBO2	Y	584	C	Y584C	Benign	0	2	10	207
MUT:ROBO2:Val1208Met	PROT:Q9HCK4	ROBO2	V	1208	M	V1208M	Likely benign	0	1	10	32
MUT:ROBO2:Val25Met	PROT:Q9HCK4	ROBO2	V	25	M	V25M	Benign	0	2	10	766
MUT:ROBO2:Val506Leu	PROT:Q9HCK4	ROBO2	V	506	L	V506L	Benign	0	1	10	285
MUT:ROBO4:Ala95Thr	PROT:Q8WZ75	ROBO4	A	95	T	A95T	Likely pathogenic	1	1	11	413
MUT:ROBO4:Arg144Trp	PROT:Q8WZ75	ROBO4	R	144	W	R144W	Benign	0	1	11	364
MUT:ROBO4:Arg329Trp	PROT:Q8WZ75	ROBO4	R	329	W	R329W	Likely benign	0	1	11	179
MUT:ROBO4:Arg380Cys	PROT:Q8WZ75	ROBO4	R	380	C	R380C	Benign	0	2	11	128
MUT:ROBO4:Arg547Trp	PROT:Q8WZ75	ROBO4	R	547	W	R547W	Benign	0	1	11	5
MUT:ROBO4:Arg606His	PROT:Q8WZ75	ROBO4	R	606	H	R606H	Benign/Likely benign	0	2	11	14
MUT:ROBO4:Arg669Gln	PROT:Q8WZ75	ROBO4	R	669	Q	R669Q	Benign	0	2	11	4
MUT:ROBO4:Arg669Trp	PROT:Q8WZ75	ROBO4	R	669	W	R669W	Likely benign	0	1	11	4
MUT:ROBO4:Arg776Cys	PROT:Q8WZ75	ROBO4	R	776	C	R776C	Benign/Likely benign	0	1	11	29
MUT:ROBO4:Gln293Pro	PROT:Q8WZ75	ROBO4	Q	293	P	Q293P	Benign	0	2	11	215
MUT:ROBO4:Gln54Arg	PROT:Q8WZ75	ROBO4	Q	54	R	Q54R	Benign	0	1	11	454
MUT:ROBO4:His490Asp	PROT:Q8WZ75	ROBO4	H	490	D	H490D	Benign	0	1	11	18
MUT:ROBO4:Leu563Phe	PROT:Q8WZ75	ROBO4	L	563	F	L563F	Benign	0	2	11	2
MUT:ROBO4:Pro718Leu	PROT:Q8WZ75	ROBO4	P	718	L	P718L	Benign	0	1	11	34
MUT:ROBO4:Pro760Leu	PROT:Q8WZ75	ROBO4	P	760	L	P760L	Benign	0	2	11	45
MUT:ROBO4:Ser592Asn	PROT:Q8WZ75	ROBO4	S	592	N	S592N	Benign	0	1	11	28
MUT:ROBO4:Val235Met	PROT:Q8WZ75	ROBO4	V	235	M	V235M	Likely pathogenic	1	1	11	273
MUT:ROBO4:Val384Ile	PROT:Q8WZ75	ROBO4	V	384	I	V384I	Benign	0	1	11	124
MUT:ROCK2:Ile41Val	PROT:O75116	ROCK2	I	41	V	I41V	Likely benign	0	1	37	51
MUT:ROCK2:Phe136Cys	PROT:O75116	ROCK2	F	136	C	F136C	Likely benign	0	1	37	40
MUT:ROGDI:Ala10Gly	PROT:Q9GZN7	ROGDI	A	10	G	A10G	Likely benign	0	1	1	217
MUT:ROGDI:Arg238His	PROT:Q9GZN7	ROGDI	R	238	H	R238H	Benign/Likely benign	0	2	1	11
MUT:ROGDI:Asp131Glu	PROT:Q9GZN7	ROGDI	D	131	E	D131E	Benign	0	1	1	96
MUT:ROGDI:Glu59Lys	PROT:Q9GZN7	ROGDI	E	59	K	E59K	Likely benign	0	1	1	168
MUT:ROR1:Arg815Leu	PROT:Q01973	ROR1	R	815	L	R815L	Likely benign	0	1	6	13
MUT:ROR1:Ser436Leu	PROT:Q01973	ROR1	S	436	L	S436L	Likely benign	0	1	6	140
MUT:ROR1:Thr518Met	PROT:Q01973	ROR1	T	518	M	T518M	Benign	0	1	6	58
MUT:ROR2:Ala894Thr	PROT:Q01974	ROR2	A	894	T	A894T	Likely benign	0	1	13	21
MUT:ROR2:Arg108Gln	PROT:Q01974	ROR2	R	108	Q	R108Q	Likely pathogenic	1	1	13	11
MUT:ROR2:Arg184Cys	PROT:Q01974	ROR2	R	184	C	R184C	Likely pathogenic	1	1	13	87
MUT:ROR2:Arg244Trp	PROT:Q01974	ROR2	R	244	W	R244W	Benign/Likely benign	0	2	13	147
MUT:ROR2:Arg312His	PROT:Q01974	ROR2	R	312	H	R312H	Benign/Likely benign	0	4	13	135
MUT:ROR2:Arg366Trp	PROT:Q01974	ROR2	R	366	W	R366W	Likely pathogenic	1	1	13	81
MUT:ROR2:Arg3Trp	PROT:Q01974	ROR2	R	3	W	R3W	Benign/Likely benign	0	2	13	94
MUT:ROR2:Arg530Gln	PROT:Q01974	ROR2	R	530	Q	R530Q	Benign/Likely benign	0	2	13	18
MUT:ROR2:Arg619Ser	PROT:Q01974	ROR2	R	619	S	R619S	Likely pathogenic	1	1	13	5
MUT:ROR2:Arg706Gln	PROT:Q01974	ROR2	R	706	Q	R706Q	Likely benign	0	1	13	59
MUT:ROR2:Asn367Ile	PROT:Q01974	ROR2	N	367	I	N367I	Likely pathogenic	1	1	13	80
MUT:ROR2:Asp644Asn	PROT:Q01974	ROR2	D	644	N	D644N	Likely benign	0	1	13	3
MUT:ROR2:Cys300Phe	PROT:Q01974	ROR2	C	300	F	C300F	Likely pathogenic	1	1	13	147
MUT:ROR2:Cys83Tyr	PROT:Q01974	ROR2	C	83	Y	C83Y	Likely pathogenic	1	1	13	14
MUT:ROR2:Gly214Arg	PROT:Q01974	ROR2	G	214	R	G214R	Likely pathogenic	1	1	13	117
MUT:ROR2:Gly695Arg	PROT:Q01974	ROR2	G	695	R	G695R	Benign	0	4	13	48
MUT:ROR2:His349Asp	PROT:Q01974	ROR2	H	349	D	H349D	Benign	0	2	13	98
MUT:ROR2:His571Arg	PROT:Q01974	ROR2	H	571	R	H571R	Benign/Likely benign	0	2	13	53
MUT:ROR2:Ile506Phe	PROT:Q01974	ROR2	I	506	F	I506F	Likely pathogenic	1	1	13	1
MUT:ROR2:Ile552Val	PROT:Q01974	ROR2	I	552	V	I552V	Likely benign	0	1	13	40
MUT:ROR2:Lys285Arg	PROT:Q01974	ROR2	K	285	R	K285R	Likely pathogenic	1	1	13	162
MUT:ROR2:Met1Arg	PROT:Q01974	ROR2	M	1	R	M1R	Pathogenic	1	1	13	96
MUT:ROR2:Met452Val	PROT:Q01974	ROR2	M	452	V	M452V	Likely benign	0	1	13	3
MUT:ROR2:Phe739Leu	PROT:Q01974	ROR2	F	739	L	F739L	Likely pathogenic	1	1	13	53
MUT:ROR2:Pro548Ser	PROT:Q01974	ROR2	P	548	S	P548S	Benign	0	2	13	36
MUT:ROR2:Pro692Thr	PROT:Q01974	ROR2	P	692	T	P692T	Likely pathogenic	1	1	13	45
MUT:ROR2:Thr245Ala	PROT:Q01974	ROR2	T	245	A	T245A	Benign	0	2	13	148
MUT:ROR2:Tyr317Cys	PROT:Q01974	ROR2	Y	317	C	Y317C	Likely pathogenic	1	1	13	130
MUT:ROR2:Val819Ile	PROT:Q01974	ROR2	V	819	I	V819I	Benign	0	3	13	5
MUT:RORA:Ala452Val	PROT:P35398	RORA	A	452	V	A452V	Likely benign	0	1	2	352
MUT:RORA:Arg124Cys	PROT:P35398	RORA	R	124	C	R124C	Likely pathogenic	1	1	2	24
MUT:RORA:Arg129Gln	PROT:P35398	RORA	R	129	Q	R129Q	Likely pathogenic	1	1	2	29
MUT:RORA:Gly92Ala	PROT:P35398	RORA	G	92	A	G92A	Pathogenic	1	1	2	8
MUT:RORA:Gly92Ser	PROT:P35398	RORA	G	92	S	G92S	Likely pathogenic	1	1	2	8
MUT:RORA:Ile68Asn	PROT:P35398	RORA	I	68	N	I68N	Likely pathogenic	1	1	2	32
MUT:RORA:Lys94Arg	PROT:P35398	RORA	K	94	R	K94R	Pathogenic	1	1	2	6
MUT:RORA:Phe372Ser	PROT:P35398	RORA	F	372	S	F372S	Likely pathogenic	1	1	2	272
MUT:RORA:Val218Ile	PROT:P35398	RORA	V	218	I	V218I	Likely benign	0	1	2	118
MUT:RORA:Val390Ile	PROT:P35398	RORA	V	390	I	V390I	Likely benign	0	1	2	290
MUT:RORC:Ala357Val	PROT:P51449	RORC	A	357	V	A357V	Likely benign	0	1	5	41
MUT:RORC:Ala464Gly	PROT:P51449	RORC	A	464	G	A464G	Benign/Likely benign	0	2	5	148
MUT:RORC:Asn445Ser	PROT:P51449	RORC	N	445	S	N445S	Likely benign	0	1	5	129
MUT:RORC:Gln124Arg	PROT:P51449	RORC	Q	124	R	Q124R	Likely benign	0	1	5	22
MUT:RORC:Lys469Arg	PROT:P51449	RORC	K	469	R	K469R	Benign	0	5	5	153
MUT:RORC:Ser250Asn	PROT:P51449	RORC	S	250	N	S250N	Likely benign	0	1	5	29
MUT:RORC:Ser38Leu	PROT:P51449	RORC	S	38	L	S38L	Pathogenic	1	1	5	1
MUT:RORC:Val331Met	PROT:P51449	RORC	V	331	M	V331M	Likely pathogenic	1	1	5	15
MUT:RP1:Ala1326Pro	PROT:P56715	RP1	A	1326	P	A1326P	Likely benign	0	1	13	199
MUT:RP1:Ala1670Thr	PROT:P56715	RP1	A	1670	T	A1670T	Benign	0	4	13	141
MUT:RP1:Ala851Thr	PROT:P56715	RP1	A	851	T	A851T	Likely benign	0	1	13	33
MUT:RP1:Arg1443Trp	PROT:P56715	RP1	R	1443	W	R1443W	Pathogenic/Likely pathogenic	1	1	13	82
MUT:RP1:Arg1595Gln	PROT:P56715	RP1	R	1595	Q	R1595Q	Benign	0	2	13	66
MUT:RP1:Arg1652Cys	PROT:P56715	RP1	R	1652	C	R1652C	Likely benign	0	1	13	123
MUT:RP1:Arg793Gly	PROT:P56715	RP1	R	793	G	R793G	Likely pathogenic	1	1	13	7
MUT:RP1:Arg872His	PROT:P56715	RP1	R	872	H	R872H	Benign	0	3	13	12
MUT:RP1:Asn1057Lys	PROT:P56715	RP1	N	1057	K	N1057K	Likely pathogenic	1	1	13	173
MUT:RP1:Asn1779Tyr	PROT:P56715	RP1	N	1779	Y	N1779Y	Likely benign	0	1	13	250
MUT:RP1:Asn625Thr	PROT:P56715	RP1	N	625	T	N625T	Likely benign	0	1	13	156
MUT:RP1:Asn960Ser	PROT:P56715	RP1	N	960	S	N960S	Likely benign	0	1	13	76
MUT:RP1:Asn985Tyr	PROT:P56715	RP1	N	985	Y	N985Y	Benign/Likely benign	0	4	13	101
MUT:RP1:Asp163Asn	PROT:P56715	RP1	D	163	N	D163N	Benign/Likely benign	0	1	13	29
MUT:RP1:Asp202Glu	PROT:P56715	RP1	D	202	E	D202E	Pathogenic/Likely pathogenic	1	3	13	1
MUT:RP1:Cys2033Tyr	PROT:P56715	RP1	C	2033	Y	C2033Y	Benign/Likely benign	0	3	13	504
MUT:RP1:Gly1626Arg	PROT:P56715	RP1	G	1626	R	G1626R	Benign	0	2	13	97
MUT:RP1:Gly1875Ala	PROT:P56715	RP1	G	1875	A	G1875A	Likely benign	0	2	13	346
MUT:RP1:Gly706Arg	PROT:P56715	RP1	G	706	R	G706R	Benign/Likely benign	0	1	13	75
MUT:RP1:Gly980Ser	PROT:P56715	RP1	G	980	S	G980S	Benign/Likely benign	0	1	13	96
MUT:RP1:Leu156Pro	PROT:P56715	RP1	L	156	P	L156P	Likely pathogenic	1	1	13	22
MUT:RP1:Leu1901Phe	PROT:P56715	RP1	L	1901	F	L1901F	Benign/Likely benign	0	2	13	372
MUT:RP1:Lys1558Asn	PROT:P56715	RP1	K	1558	N	K1558N	Likely benign	0	1	13	29
MUT:RP1:Lys2022Gln	PROT:P56715	RP1	K	2022	Q	K2022Q	Benign/Likely benign	0	1	13	493
MUT:RP1:Phe180Cys	PROT:P56715	RP1	F	180	C	F180C	Pathogenic/Likely pathogenic	1	1	13	19
MUT:RP1:Phe227Val	PROT:P56715	RP1	F	227	V	F227V	Pathogenic	1	1	13	26
MUT:RP1:Pro1793Ser	PROT:P56715	RP1	P	1793	S	P1793S	Benign/Likely benign	0	1	13	264
MUT:RP1:Ser1691Pro	PROT:P56715	RP1	S	1691	P	S1691P	Benign	0	3	13	162
MUT:RP1:Ser965Ile	PROT:P56715	RP1	S	965	I	S965I	Benign/Likely benign	0	2	13	81
MUT:RP1:Thr373Ile	PROT:P56715	RP1	T	373	I	T373I	Benign/Likely benign	0	2	13	0
MUT:RP1:Thr752Met	PROT:P56715	RP1	T	752	M	T752M	Benign	0	2	13	29
MUT:RP1:Tyr41His	PROT:P56715	RP1	Y	41	H	Y41H	Likely pathogenic	1	1	13	93
MUT:RP1:Val142Leu	PROT:P56715	RP1	V	142	L	V142L	Likely benign	0	1	13	8
MUT:RP1:Val944Met	PROT:P56715	RP1	V	944	M	V944M	Likely benign	0	1	13	60
MUT:RP1:Val945Leu	PROT:P56715	RP1	V	945	L	V945L	Benign	0	1	13	61
MUT:RP1L1:Ala1009Val	PROT:Q8IWN7	RP1L1	A	1009	V	A1009V	Benign/Likely benign	0	2	2	426
MUT:RP1L1:Ala1319Gly	PROT:Q8IWN7	RP1L1	A	1319	G	A1319G	Benign	0	2	2	736
MUT:RP1L1:Ala1319Thr	PROT:Q8IWN7	RP1L1	A	1319	T	A1319T	Benign/Likely benign	0	1	2	736
MUT:RP1L1:Ala1319Val	PROT:Q8IWN7	RP1L1	A	1319	V	A1319V	Benign	0	1	2	736
MUT:RP1L1:Ala1354Val	PROT:Q8IWN7	RP1L1	A	1354	V	A1354V	Benign	0	1	2	771
MUT:RP1L1:Ala1483Val	PROT:Q8IWN7	RP1L1	A	1483	V	A1483V	Benign	0	2	2	900
MUT:RP1L1:Ala1493Val	PROT:Q8IWN7	RP1L1	A	1493	V	A1493V	Benign	0	1	2	910
MUT:RP1L1:Ala1557Val	PROT:Q8IWN7	RP1L1	A	1557	V	A1557V	Likely benign	0	1	2	974
MUT:RP1L1:Ala1706Val	PROT:Q8IWN7	RP1L1	A	1706	V	A1706V	Likely benign	0	1	2	1123
MUT:RP1L1:Ala1709Val	PROT:Q8IWN7	RP1L1	A	1709	V	A1709V	Benign	0	2	2	1126
MUT:RP1L1:Ala1783Val	PROT:Q8IWN7	RP1L1	A	1783	V	A1783V	Benign/Likely benign	0	1	2	1200
MUT:RP1L1:Ala1840Gly	PROT:Q8IWN7	RP1L1	A	1840	G	A1840G	Benign	0	1	2	1257
MUT:RP1L1:Ala1946Glu	PROT:Q8IWN7	RP1L1	A	1946	E	A1946E	Benign	0	2	2	1363
MUT:RP1L1:Ala2103Thr	PROT:Q8IWN7	RP1L1	A	2103	T	A2103T	Likely benign	0	1	2	1520
MUT:RP1L1:Ala2113Ser	PROT:Q8IWN7	RP1L1	A	2113	S	A2113S	Likely benign	0	1	2	1530
MUT:RP1L1:Ala2182Asp	PROT:Q8IWN7	RP1L1	A	2182	D	A2182D	Benign/Likely benign	0	1	2	1599
MUT:RP1L1:Ala224Thr	PROT:Q8IWN7	RP1L1	A	224	T	A224T	Benign/Likely benign	0	2	2	3
MUT:RP1L1:Ala2366Val	PROT:Q8IWN7	RP1L1	A	2366	V	A2366V	Likely benign	0	1	2	1783
MUT:RP1L1:Ala487Val	PROT:Q8IWN7	RP1L1	A	487	V	A487V	Benign	0	1	2	96
MUT:RP1L1:Ala604Val	PROT:Q8IWN7	RP1L1	A	604	V	A604V	Benign	0	1	2	21
MUT:RP1L1:Ala624Thr	PROT:Q8IWN7	RP1L1	A	624	T	A624T	Benign/Likely benign	0	1	2	41
MUT:RP1L1:Ala760Val	PROT:Q8IWN7	RP1L1	A	760	V	A760V	Likely benign	0	1	2	177
MUT:RP1L1:Ala917Val	PROT:Q8IWN7	RP1L1	A	917	V	A917V	Likely benign	0	1	2	334
MUT:RP1L1:Ala976Val	PROT:Q8IWN7	RP1L1	A	976	V	A976V	Likely benign	0	3	2	393
MUT:RP1L1:Arg1146Trp	PROT:Q8IWN7	RP1L1	R	1146	W	R1146W	Benign	0	3	2	563
MUT:RP1L1:Arg118Trp	PROT:Q8IWN7	RP1L1	R	118	W	R118W	Benign/Likely benign	0	1	2	109
MUT:RP1L1:Arg136His	PROT:Q8IWN7	RP1L1	R	136	H	R136H	Benign/Likely benign	0	1	2	91
MUT:RP1L1:Arg1467Ser	PROT:Q8IWN7	RP1L1	R	1467	S	R1467S	Benign	0	2	2	884
MUT:RP1L1:Arg1567Cys	PROT:Q8IWN7	RP1L1	R	1567	C	R1567C	Likely benign	0	1	2	984
MUT:RP1L1:Arg1622Gln	PROT:Q8IWN7	RP1L1	R	1622	Q	R1622Q	Benign/Likely benign	0	8	2	1039
MUT:RP1L1:Arg163His	PROT:Q8IWN7	RP1L1	R	163	H	R163H	Benign/Likely benign	0	1	2	64
MUT:RP1L1:Arg1695Lys	PROT:Q8IWN7	RP1L1	R	1695	K	R1695K	Likely benign	0	1	2	1112
MUT:RP1L1:Arg190Cys	PROT:Q8IWN7	RP1L1	R	190	C	R190C	Benign/Likely benign	0	2	2	37
MUT:RP1L1:Arg23Cys	PROT:Q8IWN7	RP1L1	R	23	C	R23C	Likely benign	0	1	2	204
MUT:RP1L1:Arg314Cys	PROT:Q8IWN7	RP1L1	R	314	C	R314C	Benign/Likely benign	0	2	2	87
MUT:RP1L1:Arg314His	PROT:Q8IWN7	RP1L1	R	314	H	R314H	Likely benign	0	1	2	87
MUT:RP1L1:Arg397Gln	PROT:Q8IWN7	RP1L1	R	397	Q	R397Q	Likely benign	0	1	2	170
MUT:RP1L1:Arg45Trp	PROT:Q8IWN7	RP1L1	R	45	W	R45W	Pathogenic/Likely pathogenic	1	4	2	182
MUT:RP1L1:Arg493Gln	PROT:Q8IWN7	RP1L1	R	493	Q	R493Q	Benign	0	1	2	90
MUT:RP1L1:Arg551Gln	PROT:Q8IWN7	RP1L1	R	551	Q	R551Q	Likely benign	0	1	2	32
MUT:RP1L1:Arg56Cys	PROT:Q8IWN7	RP1L1	R	56	C	R56C	Benign	0	1	2	171
MUT:RP1L1:Arg822Gln	PROT:Q8IWN7	RP1L1	R	822	Q	R822Q	Benign/Likely benign	0	2	2	239
MUT:RP1L1:Arg839Trp	PROT:Q8IWN7	RP1L1	R	839	W	R839W	Likely benign	0	1	2	256
MUT:RP1L1:Arg85Trp	PROT:Q8IWN7	RP1L1	R	85	W	R85W	Benign/Likely benign	0	1	2	142
MUT:RP1L1:Arg860Gln	PROT:Q8IWN7	RP1L1	R	860	Q	R860Q	Likely benign	0	1	2	277
MUT:RP1L1:Arg860Trp	PROT:Q8IWN7	RP1L1	R	860	W	R860W	Benign	0	2	2	277
MUT:RP1L1:Arg866His	PROT:Q8IWN7	RP1L1	R	866	H	R866H	Likely benign	0	1	2	283
MUT:RP1L1:Arg882Trp	PROT:Q8IWN7	RP1L1	R	882	W	R882W	Benign/Likely benign	0	1	2	299
MUT:RP1L1:Arg893His	PROT:Q8IWN7	RP1L1	R	893	H	R893H	Likely benign	0	1	2	310
MUT:RP1L1:Asn1813Ser	PROT:Q8IWN7	RP1L1	N	1813	S	N1813S	Likely pathogenic	1	1	2	1230
MUT:RP1L1:Asn282His	PROT:Q8IWN7	RP1L1	N	282	H	N282H	Benign	0	1	2	55
MUT:RP1L1:Asn718Lys	PROT:Q8IWN7	RP1L1	N	718	K	N718K	Benign/Likely benign	0	1	2	135
MUT:RP1L1:Asp1425Glu	PROT:Q8IWN7	RP1L1	D	1425	E	D1425E	Benign	0	2	2	842
MUT:RP1L1:Asp1425His	PROT:Q8IWN7	RP1L1	D	1425	H	D1425H	Benign/Likely benign	0	2	2	842
MUT:RP1L1:Asp1549Asn	PROT:Q8IWN7	RP1L1	D	1549	N	D1549N	Likely benign	0	1	2	966
MUT:RP1L1:Asp1554Glu	PROT:Q8IWN7	RP1L1	D	1554	E	D1554E	Benign	0	1	2	971
MUT:RP1L1:Asp1859Glu	PROT:Q8IWN7	RP1L1	D	1859	E	D1859E	Benign	0	1	2	1276
MUT:RP1L1:Asp1873Gly	PROT:Q8IWN7	RP1L1	D	1873	G	D1873G	Benign	0	2	2	1290
MUT:RP1L1:Asp1889Val	PROT:Q8IWN7	RP1L1	D	1889	V	D1889V	Benign	0	2	2	1306
MUT:RP1L1:Asp588Gly	PROT:Q8IWN7	RP1L1	D	588	G	D588G	Benign/Likely benign	0	2	2	5
MUT:RP1L1:Asp66His	PROT:Q8IWN7	RP1L1	D	66	H	D66H	Likely pathogenic	1	1	2	161
MUT:RP1L1:Asp731Asn	PROT:Q8IWN7	RP1L1	D	731	N	D731N	Benign	0	1	2	148
MUT:RP1L1:Asp993Asn	PROT:Q8IWN7	RP1L1	D	993	N	D993N	Benign	0	1	2	410
MUT:RP1L1:Gln1321Glu	PROT:Q8IWN7	RP1L1	Q	1321	E	Q1321E	Benign	0	1	2	738
MUT:RP1L1:Gln1349Leu	PROT:Q8IWN7	RP1L1	Q	1349	L	Q1349L	Benign	0	1	2	766
MUT:RP1L1:Gln1941Glu	PROT:Q8IWN7	RP1L1	Q	1941	E	Q1941E	Benign	0	1	2	1358
MUT:RP1L1:Gln2088His	PROT:Q8IWN7	RP1L1	Q	2088	H	Q2088H	Benign	0	3	2	1505
MUT:RP1L1:Gln208Lys	PROT:Q8IWN7	RP1L1	Q	208	K	Q208K	Benign/Likely benign	0	3	2	19
MUT:RP1L1:Gln835Glu	PROT:Q8IWN7	RP1L1	Q	835	E	Q835E	Likely benign	0	1	2	252
MUT:RP1L1:Glu1305Gly	PROT:Q8IWN7	RP1L1	E	1305	G	E1305G	Benign	0	1	2	722
MUT:RP1L1:Glu1328Lys	PROT:Q8IWN7	RP1L1	E	1328	K	E1328K	Benign	0	1	2	745
MUT:RP1L1:Glu1328Val	PROT:Q8IWN7	RP1L1	E	1328	V	E1328V	Benign	0	1	2	745
MUT:RP1L1:Glu1340Gly	PROT:Q8IWN7	RP1L1	E	1340	G	E1340G	Benign	0	1	2	757
MUT:RP1L1:Glu1343Val	PROT:Q8IWN7	RP1L1	E	1343	V	E1343V	Benign	0	1	2	760
MUT:RP1L1:Glu1357Lys	PROT:Q8IWN7	RP1L1	E	1357	K	E1357K	Benign	0	1	2	774
MUT:RP1L1:Glu1369Lys	PROT:Q8IWN7	RP1L1	E	1369	K	E1369K	Benign	0	1	2	786
MUT:RP1L1:Glu1540Asp	PROT:Q8IWN7	RP1L1	E	1540	D	E1540D	Benign	0	1	2	957
MUT:RP1L1:Glu1636Lys	PROT:Q8IWN7	RP1L1	E	1636	K	E1636K	Benign/Likely benign	0	2	2	1053
MUT:RP1L1:Glu1780Lys	PROT:Q8IWN7	RP1L1	E	1780	K	E1780K	Likely benign	0	1	2	1197
MUT:RP1L1:Glu1866Asp	PROT:Q8IWN7	RP1L1	E	1866	D	E1866D	Benign	0	1	2	1283
MUT:RP1L1:Glu1882Asp	PROT:Q8IWN7	RP1L1	E	1882	D	E1882D	Benign	0	1	2	1299
MUT:RP1L1:Glu1932Lys	PROT:Q8IWN7	RP1L1	E	1932	K	E1932K	Benign	0	1	2	1349
MUT:RP1L1:Glu2070Val	PROT:Q8IWN7	RP1L1	E	2070	V	E2070V	Benign	0	3	2	1487
MUT:RP1L1:Glu2140Lys	PROT:Q8IWN7	RP1L1	E	2140	K	E2140K	Benign	0	2	2	1557
MUT:RP1L1:Glu2144Ala	PROT:Q8IWN7	RP1L1	E	2144	A	E2144A	Benign	0	1	2	1561
MUT:RP1L1:Glu2171Lys	PROT:Q8IWN7	RP1L1	E	2171	K	E2171K	Benign	0	3	2	1588
MUT:RP1L1:Glu2240Gln	PROT:Q8IWN7	RP1L1	E	2240	Q	E2240Q	Benign	0	1	2	1657
MUT:RP1L1:Glu529Asp	PROT:Q8IWN7	RP1L1	E	529	D	E529D	Likely benign	0	2	2	54
MUT:RP1L1:Glu599Lys	PROT:Q8IWN7	RP1L1	E	599	K	E599K	Benign/Likely benign	0	1	2	16
MUT:RP1L1:Glu795Lys	PROT:Q8IWN7	RP1L1	E	795	K	E795K	Likely benign	0	2	2	212
MUT:RP1L1:Glu814Gly	PROT:Q8IWN7	RP1L1	E	814	G	E814G	Benign/Likely benign	0	3	2	231
MUT:RP1L1:Glu938Asp	PROT:Q8IWN7	RP1L1	E	938	D	E938D	Likely benign	0	1	2	355
MUT:RP1L1:Glu967Lys	PROT:Q8IWN7	RP1L1	E	967	K	E967K	Benign/Likely benign	0	2	2	384
MUT:RP1L1:Glu97Gln	PROT:Q8IWN7	RP1L1	E	97	Q	E97Q	Benign	0	3	2	130
MUT:RP1L1:Gly1010Arg	PROT:Q8IWN7	RP1L1	G	1010	R	G1010R	Likely benign	0	1	2	427
MUT:RP1L1:Gly1059Arg	PROT:Q8IWN7	RP1L1	G	1059	R	G1059R	Likely benign	0	1	2	476
MUT:RP1L1:Gly1185Glu	PROT:Q8IWN7	RP1L1	G	1185	E	G1185E	Benign	0	1	2	602
MUT:RP1L1:Gly1200Val	PROT:Q8IWN7	RP1L1	G	1200	V	G1200V	Likely pathogenic	1	1	2	617
MUT:RP1L1:Gly1221Ser	PROT:Q8IWN7	RP1L1	G	1221	S	G1221S	Likely benign	0	1	2	638
MUT:RP1L1:Gly1335Ala	PROT:Q8IWN7	RP1L1	G	1335	A	G1335A	Likely benign	0	1	2	752
MUT:RP1L1:Gly1335Arg	PROT:Q8IWN7	RP1L1	G	1335	R	G1335R	Benign	0	2	2	752
MUT:RP1L1:Gly1335Val	PROT:Q8IWN7	RP1L1	G	1335	V	G1335V	Benign/Likely benign	0	1	2	752
MUT:RP1L1:Gly1364Ala	PROT:Q8IWN7	RP1L1	G	1364	A	G1364A	Benign	0	1	2	781
MUT:RP1L1:Gly1366Glu	PROT:Q8IWN7	RP1L1	G	1366	E	G1366E	Likely benign	0	1	2	783
MUT:RP1L1:Gly1384Arg	PROT:Q8IWN7	RP1L1	G	1384	R	G1384R	Likely benign	0	1	2	801
MUT:RP1L1:Gly1407Arg	PROT:Q8IWN7	RP1L1	G	1407	R	G1407R	Likely benign	0	1	2	824
MUT:RP1L1:Gly1482Arg	PROT:Q8IWN7	RP1L1	G	1482	R	G1482R	Benign/Likely benign	0	2	2	899
MUT:RP1L1:Gly1597Arg	PROT:Q8IWN7	RP1L1	G	1597	R	G1597R	Likely benign	0	1	2	1014
MUT:RP1L1:Gly1681Ala	PROT:Q8IWN7	RP1L1	G	1681	A	G1681A	Likely benign	0	1	2	1098
MUT:RP1L1:Gly1816Asp	PROT:Q8IWN7	RP1L1	G	1816	D	G1816D	Benign	0	1	2	1233
MUT:RP1L1:Gly183Ser	PROT:Q8IWN7	RP1L1	G	183	S	G183S	Benign	0	6	2	44
MUT:RP1L1:Gly2115Asp	PROT:Q8IWN7	RP1L1	G	2115	D	G2115D	Benign	0	1	2	1532
MUT:RP1L1:Gly2285Arg	PROT:Q8IWN7	RP1L1	G	2285	R	G2285R	Benign	0	3	2	1702
MUT:RP1L1:Gly371Val	PROT:Q8IWN7	RP1L1	G	371	V	G371V	Likely benign	0	1	2	144
MUT:RP1L1:Gly479Arg	PROT:Q8IWN7	RP1L1	G	479	R	G479R	Likely benign	0	1	2	104
MUT:RP1L1:Gly514Ser	PROT:Q8IWN7	RP1L1	G	514	S	G514S	Benign	0	3	2	69
MUT:RP1L1:Gly519Ser	PROT:Q8IWN7	RP1L1	G	519	S	G519S	Benign/Likely benign	0	2	2	64
MUT:RP1L1:Gly874Ser	PROT:Q8IWN7	RP1L1	G	874	S	G874S	Benign	0	1	2	291
MUT:RP1L1:Gly891Ala	PROT:Q8IWN7	RP1L1	G	891	A	G891A	Likely benign	0	1	2	308
MUT:RP1L1:Gly916Asp	PROT:Q8IWN7	RP1L1	G	916	D	G916D	Likely benign	0	1	2	333
MUT:RP1L1:His222Pro	PROT:Q8IWN7	RP1L1	H	222	P	H222P	Benign	0	3	2	5
MUT:RP1L1:His2335Arg	PROT:Q8IWN7	RP1L1	H	2335	R	H2335R	Benign	0	2	2	1752
MUT:RP1L1:His641Gln	PROT:Q8IWN7	RP1L1	H	641	Q	H641Q	Likely benign	0	1	2	58
MUT:RP1L1:His877Tyr	PROT:Q8IWN7	RP1L1	H	877	Y	H877Y	Likely benign	0	3	2	294
MUT:RP1L1:Ile1085Met	PROT:Q8IWN7	RP1L1	I	1085	M	I1085M	Benign	0	2	2	502
MUT:RP1L1:Ile1153Thr	PROT:Q8IWN7	RP1L1	I	1153	T	I1153T	Likely benign	0	1	2	570
MUT:RP1L1:Ile2116Val	PROT:Q8IWN7	RP1L1	I	2116	V	I2116V	Likely benign	0	1	2	1533
MUT:RP1L1:Leu1172Ile	PROT:Q8IWN7	RP1L1	L	1172	I	L1172I	Benign	0	2	2	589
MUT:RP1L1:Leu1399Phe	PROT:Q8IWN7	RP1L1	L	1399	F	L1399F	Likely benign	0	1	2	816
MUT:RP1L1:Leu1613Met	PROT:Q8IWN7	RP1L1	L	1613	M	L1613M	Likely benign	0	1	2	1030
MUT:RP1L1:Leu1629Phe	PROT:Q8IWN7	RP1L1	L	1629	F	L1629F	Likely benign	0	1	2	1046
MUT:RP1L1:Leu792Pro	PROT:Q8IWN7	RP1L1	L	792	P	L792P	Benign	0	3	2	209
MUT:RP1L1:Lys1573Glu	PROT:Q8IWN7	RP1L1	K	1573	E	K1573E	Likely benign	0	1	2	990
MUT:RP1L1:Met648Val	PROT:Q8IWN7	RP1L1	M	648	V	M648V	Likely benign	0	1	2	65
MUT:RP1L1:Phe376Leu	PROT:Q8IWN7	RP1L1	F	376	L	F376L	Benign/Likely benign	0	1	2	149
MUT:RP1L1:Pro1018His	PROT:Q8IWN7	RP1L1	P	1018	H	P1018H	Benign/Likely benign	0	2	2	435
MUT:RP1L1:Pro110Ser	PROT:Q8IWN7	RP1L1	P	110	S	P110S	Benign/Likely benign	0	2	2	117
MUT:RP1L1:Pro113Ser	PROT:Q8IWN7	RP1L1	P	113	S	P113S	Benign/Likely benign	0	1	2	114
MUT:RP1L1:Pro1231Ser	PROT:Q8IWN7	RP1L1	P	1231	S	P1231S	Benign/Likely benign	0	2	2	648
MUT:RP1L1:Pro1400Thr	PROT:Q8IWN7	RP1L1	P	1400	T	P1400T	Benign	0	1	2	817
MUT:RP1L1:Pro1480Leu	PROT:Q8IWN7	RP1L1	P	1480	L	P1480L	Likely benign	0	1	2	897
MUT:RP1L1:Pro1495Arg	PROT:Q8IWN7	RP1L1	P	1495	R	P1495R	Benign	0	3	2	912
MUT:RP1L1:Pro1495Ser	PROT:Q8IWN7	RP1L1	P	1495	S	P1495S	Likely pathogenic	1	1	2	912
MUT:RP1L1:Pro1590Leu	PROT:Q8IWN7	RP1L1	P	1590	L	P1590L	Likely benign	0	1	2	1007
MUT:RP1L1:Pro1995Thr	PROT:Q8IWN7	RP1L1	P	1995	T	P1995T	Likely benign	0	1	2	1412
MUT:RP1L1:Pro19His	PROT:Q8IWN7	RP1L1	P	19	H	P19H	Pathogenic	1	1	2	208
MUT:RP1L1:Pro2183Gln	PROT:Q8IWN7	RP1L1	P	2183	Q	P2183Q	Likely benign	0	1	2	1600
MUT:RP1L1:Pro2199Leu	PROT:Q8IWN7	RP1L1	P	2199	L	P2199L	Benign	0	2	2	1616
MUT:RP1L1:Pro2215Leu	PROT:Q8IWN7	RP1L1	P	2215	L	P2215L	Benign	0	1	2	1632
MUT:RP1L1:Pro2225Leu	PROT:Q8IWN7	RP1L1	P	2225	L	P2225L	Benign	0	1	2	1642
MUT:RP1L1:Pro2231Leu	PROT:Q8IWN7	RP1L1	P	2231	L	P2231L	Likely benign	0	1	2	1648
MUT:RP1L1:Pro2271Arg	PROT:Q8IWN7	RP1L1	P	2271	R	P2271R	Benign	0	1	2	1688
MUT:RP1L1:Pro259Gln	PROT:Q8IWN7	RP1L1	P	259	Q	P259Q	Benign/Likely benign	0	1	2	32
MUT:RP1L1:Pro272Ala	PROT:Q8IWN7	RP1L1	P	272	A	P272A	Benign	0	1	2	45
MUT:RP1L1:Pro275Ser	PROT:Q8IWN7	RP1L1	P	275	S	P275S	Likely benign	0	1	2	48
MUT:RP1L1:Pro284Ala	PROT:Q8IWN7	RP1L1	P	284	A	P284A	Benign	0	1	2	57
MUT:RP1L1:Pro284Leu	PROT:Q8IWN7	RP1L1	P	284	L	P284L	Benign	0	1	2	57
MUT:RP1L1:Pro44Ala	PROT:Q8IWN7	RP1L1	P	44	A	P44A	Benign	0	1	2	183
MUT:RP1L1:Pro476Leu	PROT:Q8IWN7	RP1L1	P	476	L	P476L	Likely benign	0	1	2	107
MUT:RP1L1:Pro654Ser	PROT:Q8IWN7	RP1L1	P	654	S	P654S	Likely benign	0	1	2	71
MUT:RP1L1:Pro754Leu	PROT:Q8IWN7	RP1L1	P	754	L	P754L	Likely benign	0	1	2	171
MUT:RP1L1:Pro800Thr	PROT:Q8IWN7	RP1L1	P	800	T	P800T	Likely benign	0	1	2	217
MUT:RP1L1:Pro833Leu	PROT:Q8IWN7	RP1L1	P	833	L	P833L	Likely benign	0	1	2	250
MUT:RP1L1:Pro899Leu	PROT:Q8IWN7	RP1L1	P	899	L	P899L	Benign	0	1	2	316
MUT:RP1L1:Ser1114Thr	PROT:Q8IWN7	RP1L1	S	1114	T	S1114T	Benign/Likely benign	0	2	2	531
MUT:RP1L1:Ser1213Gly	PROT:Q8IWN7	RP1L1	S	1213	G	S1213G	Likely benign	0	1	2	630
MUT:RP1L1:Ser1246Asn	PROT:Q8IWN7	RP1L1	S	1246	N	S1246N	Likely benign	0	1	2	663
MUT:RP1L1:Ser1505Leu	PROT:Q8IWN7	RP1L1	S	1505	L	S1505L	Benign	0	2	2	922
MUT:RP1L1:Ser1921Arg	PROT:Q8IWN7	RP1L1	S	1921	R	S1921R	Benign	0	1	2	1338
MUT:RP1L1:Ser2330Pro	PROT:Q8IWN7	RP1L1	S	2330	P	S2330P	Likely benign	0	1	2	1747
MUT:RP1L1:Ser353Thr	PROT:Q8IWN7	RP1L1	S	353	T	S353T	Likely benign	0	1	2	126
MUT:RP1L1:Ser564Cys	PROT:Q8IWN7	RP1L1	S	564	C	S564C	Benign/Likely benign	0	1	2	19
MUT:RP1L1:Ser676Arg	PROT:Q8IWN7	RP1L1	S	676	R	S676R	Likely benign	0	1	2	93
MUT:RP1L1:Ser676Cys	PROT:Q8IWN7	RP1L1	S	676	C	S676C	Likely benign	0	1	2	93
MUT:RP1L1:Ser724Leu	PROT:Q8IWN7	RP1L1	S	724	L	S724L	Likely benign	0	1	2	141
MUT:RP1L1:Ser772Leu	PROT:Q8IWN7	RP1L1	S	772	L	S772L	Likely benign	0	1	2	189
MUT:RP1L1:Ser923Phe	PROT:Q8IWN7	RP1L1	S	923	F	S923F	Likely benign	0	1	2	340
MUT:RP1L1:Thr112Ser	PROT:Q8IWN7	RP1L1	T	112	S	T112S	Benign	0	1	2	115
MUT:RP1L1:Thr1327Ala	PROT:Q8IWN7	RP1L1	T	1327	A	T1327A	Benign/Likely benign	0	1	2	744
MUT:RP1L1:Thr1327Ile	PROT:Q8IWN7	RP1L1	T	1327	I	T1327I	Benign	0	1	2	744
MUT:RP1L1:Thr1344Ile	PROT:Q8IWN7	RP1L1	T	1344	I	T1344I	Benign	0	1	2	761
MUT:RP1L1:Thr1715Met	PROT:Q8IWN7	RP1L1	T	1715	M	T1715M	Likely benign	0	1	2	1132
MUT:RP1L1:Thr1954Ala	PROT:Q8IWN7	RP1L1	T	1954	A	T1954A	Benign	0	3	2	1371
MUT:RP1L1:Thr2331Met	PROT:Q8IWN7	RP1L1	T	2331	M	T2331M	Benign/Likely benign	0	1	2	1748
MUT:RP1L1:Thr257Ala	PROT:Q8IWN7	RP1L1	T	257	A	T257A	Likely benign	0	1	2	30
MUT:RP1L1:Thr799Met	PROT:Q8IWN7	RP1L1	T	799	M	T799M	Benign	0	2	2	216
MUT:RP1L1:Thr880Ala	PROT:Q8IWN7	RP1L1	T	880	A	T880A	Likely benign	0	1	2	297
MUT:RP1L1:Thr927Asn	PROT:Q8IWN7	RP1L1	T	927	N	T927N	Benign	0	1	2	344
MUT:RP1L1:Trp2306Arg	PROT:Q8IWN7	RP1L1	W	2306	R	W2306R	Benign	0	1	2	1723
MUT:RP1L1:Val1163Leu	PROT:Q8IWN7	RP1L1	V	1163	L	V1163L	Likely benign	0	1	2	580
MUT:RP1L1:Val1215Ile	PROT:Q8IWN7	RP1L1	V	1215	I	V1215I	Likely benign	0	1	2	632
MUT:RP1L1:Val1663Met	PROT:Q8IWN7	RP1L1	V	1663	M	V1663M	Likely benign	0	1	2	1080
MUT:RP1L1:Val323Met	PROT:Q8IWN7	RP1L1	V	323	M	V323M	Likely benign	0	2	2	96
MUT:RP1L1:Val332Ala	PROT:Q8IWN7	RP1L1	V	332	A	V332A	Likely benign	0	1	2	105
MUT:RP1L1:Val332Ile	PROT:Q8IWN7	RP1L1	V	332	I	V332I	Likely benign	0	1	2	105
MUT:RP1L1:Val358Ile	PROT:Q8IWN7	RP1L1	V	358	I	V358I	Likely benign	0	1	2	131
MUT:RP2:Ala113Asp	PROT:O75695	RP2	A	113	D	A113D	Likely pathogenic	1	1	12	4
MUT:RP2:Arg118Cys	PROT:O75695	RP2	R	118	C	R118C	Pathogenic/Likely pathogenic	1	4	12	9
MUT:RP2:Arg118Gly	PROT:O75695	RP2	R	118	G	R118G	Likely pathogenic	1	2	12	9
MUT:RP2:Arg118His	PROT:O75695	RP2	R	118	H	R118H	Pathogenic/Likely pathogenic	1	2	12	9
MUT:RP2:Arg118Leu	PROT:O75695	RP2	R	118	L	R118L	Pathogenic	1	1	12	9
MUT:RP2:Arg251Gly	PROT:O75695	RP2	R	251	G	R251G	Benign/Likely benign	0	2	12	1
MUT:RP2:Arg282Trp	PROT:O75695	RP2	R	282	W	R282W	Benign/Likely benign	0	2	12	2
MUT:RP2:Cys122Tyr	PROT:O75695	RP2	C	122	Y	C122Y	Pathogenic/Likely pathogenic	1	1	12	13
MUT:RP2:Cys89Tyr	PROT:O75695	RP2	C	89	Y	C89Y	Likely pathogenic	1	1	12	20
MUT:RP2:Glu317Lys	PROT:O75695	RP2	E	317	K	E317K	Benign/Likely benign	0	1	12	33
MUT:RP2:His175Pro	PROT:O75695	RP2	H	175	P	H175P	Likely pathogenic	1	1	12	49
MUT:RP2:Ile201Val	PROT:O75695	RP2	I	201	V	I201V	Benign	0	1	12	23
MUT:RP2:Ile223Val	PROT:O75695	RP2	I	223	V	I223V	Likely benign	0	1	12	1
MUT:RP2:Leu253Arg	PROT:O75695	RP2	L	253	R	L253R	Likely pathogenic	1	1	12	1
MUT:RP2:Met1Leu	PROT:O75695	RP2	M	1	L	M1L	Pathogenic/Likely pathogenic	1	1	12	12
MUT:RP2:Met1Thr	PROT:O75695	RP2	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	12	12
MUT:RP2:Met272Val	PROT:O75695	RP2	M	272	V	M272V	Benign/Likely benign	0	2	12	1
MUT:RP2:Ser334Tyr	PROT:O75695	RP2	S	334	Y	S334Y	Benign/Likely benign	0	1	12	50
MUT:RP2:Thr87Ile	PROT:O75695	RP2	T	87	I	T87I	Benign/Likely benign	0	2	12	22
MUT:RP9:Arg207Gln	PROT:Q8TA86	RP9	R	207	Q	R207Q	Benign	0	1	5	65
MUT:RP9:Gly6Val	PROT:Q8TA86	RP9	G	6	V	G6V	Benign	0	1	5	46
MUT:RP9:Lys210Arg	PROT:Q8TA86	RP9	K	210	R	K210R	Benign	0	3	5	68
MUT:RP9:Ser212Phe	PROT:Q8TA86	RP9	S	212	F	S212F	Benign	0	1	5	70
MUT:RP9:Val155Ile	PROT:Q8TA86	RP9	V	155	I	V155I	Benign	0	1	5	13
MUT:RPA1:Glu240Lys	PROT:P27694	RPA1	E	240	K	E240K	Pathogenic	1	1	46	4
MUT:RPA1:Val227Ala	PROT:P27694	RPA1	V	227	A	V227A	Pathogenic	1	1	46	7
MUT:RPGRIP1:Ala101Thr	PROT:Q96KN7	RPGRIP1	A	101	T	A101T	Likely benign	0	1	8	401
MUT:RPGRIP1:Ala547Ser	PROT:Q96KN7	RPGRIP1	A	547	S	A547S	Benign/Likely benign	0	4	8	11
MUT:RPGRIP1:Arg598Gln	PROT:Q96KN7	RPGRIP1	R	598	Q	R598Q	Benign/Likely benign	0	3	8	62
MUT:RPGRIP1:Arg827Leu	PROT:Q96KN7	RPGRIP1	R	827	L	R827L	Likely pathogenic	1	2	8	1
MUT:RPGRIP1:Arg86Trp	PROT:Q96KN7	RPGRIP1	R	86	W	R86W	Benign/Likely benign	0	2	8	416
MUT:RPGRIP1:Asp1114Gly	PROT:Q96KN7	RPGRIP1	D	1114	G	D1114G	Benign/Likely benign	0	2	8	1
MUT:RPGRIP1:Cys808Trp	PROT:Q96KN7	RPGRIP1	C	808	W	C808W	Likely benign	0	1	8	15
MUT:RPGRIP1:Glu1033Gln	PROT:Q96KN7	RPGRIP1	E	1033	Q	E1033Q	Benign/Likely benign	0	2	8	82
MUT:RPGRIP1:Glu1058Lys	PROT:Q96KN7	RPGRIP1	E	1058	K	E1058K	Likely benign	0	1	8	57
MUT:RPGRIP1:Glu800Lys	PROT:Q96KN7	RPGRIP1	E	800	K	E800K	Pathogenic/Likely pathogenic	1	2	8	23
MUT:RPGRIP1:Gly1227Arg	PROT:Q96KN7	RPGRIP1	G	1227	R	G1227R	Likely pathogenic	1	1	8	112
MUT:RPGRIP1:Gly1240Glu	PROT:Q96KN7	RPGRIP1	G	1240	E	G1240E	Benign/Likely benign	0	2	8	125
MUT:RPGRIP1:Gly746Arg	PROT:Q96KN7	RPGRIP1	G	746	R	G746R	Pathogenic/Likely pathogenic	1	1	8	77
MUT:RPGRIP1:Gly746Glu	PROT:Q96KN7	RPGRIP1	G	746	E	G746E	Likely pathogenic	1	1	8	77
MUT:RPGRIP1:His631Arg	PROT:Q96KN7	RPGRIP1	H	631	R	H631R	Pathogenic/Likely pathogenic	1	3	8	95
MUT:RPGRIP1:His631Leu	PROT:Q96KN7	RPGRIP1	H	631	L	H631L	Pathogenic	1	1	8	95
MUT:RPGRIP1:Leu811His	PROT:Q96KN7	RPGRIP1	L	811	H	L811H	Pathogenic	1	1	8	12
MUT:RPGRIP1:Lys192Glu	PROT:Q96KN7	RPGRIP1	K	192	E	K192E	Benign	0	2	8	310
MUT:RPGRIP1:Pro174Arg	PROT:Q96KN7	RPGRIP1	P	174	R	P174R	Likely pathogenic	1	1	8	328
MUT:RPGRIP1:Pro37His	PROT:Q96KN7	RPGRIP1	P	37	H	P37H	Likely benign	0	1	8	465
MUT:RPGRIP1:Pro650Ser	PROT:Q96KN7	RPGRIP1	P	650	S	P650S	Likely pathogenic	1	1	8	114
MUT:RPGRIP1:Pro674His	PROT:Q96KN7	RPGRIP1	P	674	H	P674H	Likely pathogenic	1	1	8	138
MUT:RPGRIP1:Pro96Gln	PROT:Q96KN7	RPGRIP1	P	96	Q	P96Q	Benign	0	2	8	406
MUT:RPGRIP1:Thr1045Ala	PROT:Q96KN7	RPGRIP1	T	1045	A	T1045A	Likely benign	0	1	8	70
MUT:RPGRIP1:Thr806Ile	PROT:Q96KN7	RPGRIP1	T	806	I	T806I	Benign/Likely benign	0	3	8	17
MUT:RPGRIP1:Tyr750Cys	PROT:Q96KN7	RPGRIP1	Y	750	C	Y750C	Likely pathogenic	1	1	8	73
MUT:RPL21:Arg32Gln	PROT:P46778	RPL21	R	32	Q	R32Q	Pathogenic	1	1	9	2
MUT:RPL3L:Arg116His	PROT:Q92901	RPL3L	R	116	H	R116H	Pathogenic	1	1	6	72
MUT:RPL3L:Arg161Trp	PROT:Q92901	RPL3L	R	161	W	R161W	Pathogenic	1	1	6	89
MUT:RPL3L:Arg343Trp	PROT:Q92901	RPL3L	R	343	W	R343W	Pathogenic	1	1	6	30
MUT:RPL3L:Asp308Val	PROT:Q92901	RPL3L	D	308	V	D308V	Pathogenic	1	1	6	58
MUT:RPL3L:Thr189Met	PROT:Q92901	RPL3L	T	189	M	T189M	Pathogenic	1	1	6	61
MUT:RPL5:Arg54Pro	PROT:P46777	RPL5	R	54	P	R54P	Pathogenic	1	1	29	6
MUT:RPL5:Leu109Pro	PROT:P46777	RPL5	L	109	P	L109P	Likely pathogenic	1	1	29	49
MUT:RPL5:Met1Arg	PROT:P46777	RPL5	M	1	R	M1R	Pathogenic	1	1	29	1
MUT:RPL5:Met1Ile	PROT:P46777	RPL5	M	1	I	M1I	Pathogenic	1	1	29	1
MUT:RPL5:Met1Leu	PROT:P46777	RPL5	M	1	L	M1L	Pathogenic	1	1	29	1
MUT:RPL5:Tyr210Cys	PROT:P46777	RPL5	Y	210	C	Y210C	Benign/Likely benign	0	4	29	3
MUT:RPL5:Val261Leu	PROT:P46777	RPL5	V	261	L	V261L	Benign/Likely benign	0	2	29	9
MUT:RPP30:Ala11Val	PROT:P78346	RPP30	A	11	V	A11V	Likely benign	0	3	5	5
MUT:RPS10:Met1Ile	PROT:P46783	RPS10	M	1	I	M1I	Pathogenic	1	1	17	11
MUT:RPS10:Met1Val	PROT:P46783	RPS10	M	1	V	M1V	Pathogenic	1	1	17	11
MUT:RPS15:Arg47Pro	PROT:P62841	RPS15	R	47	P	R47P	Benign	0	1	5	8
MUT:RPS20:Ile84Asn	PROT:P60866	RPS20	I	84	N	I84N	Pathogenic	1	1	16	8
MUT:RPS20:Ile84Ser	PROT:P60866	RPS20	I	84	S	I84S	Pathogenic	1	1	16	8
MUT:RPS20:Pro141Ala	PROT:P60866	RPS20	P	141	A	P141A	Likely benign	0	1	16	46
MUT:RPS20:Ser115Pro	PROT:P60866	RPS20	S	115	P	S115P	Benign	0	1	16	20
MUT:RPS23:Arg67Lys	PROT:P62266	RPS23	R	67	K	R67K	Pathogenic	1	1	7	7
MUT:RPS23:Phe120Ile	PROT:P62266	RPS23	F	120	I	F120I	Pathogenic	1	1	7	9
MUT:RPS29:Ile31Phe	PROT:P62273	RPS29	I	31	F	I31F	Pathogenic	1	1	6	2
MUT:RPS29:Ile50Thr	PROT:P62273	RPS29	I	50	T	I50T	Likely pathogenic	1	1	6	2
MUT:RPS7:Leu133Phe	PROT:P62081	RPS7	L	133	F	L133F	Likely pathogenic	1	1	19	9
MUT:RPUSD3:Arg216Cys	PROT:Q6P087	RPUSD3	R	216	C	R216C	Likely pathogenic	1	1	1	121
MUT:RPUSD3:His242Tyr	PROT:Q6P087	RPUSD3	H	242	Y	H242Y	Likely pathogenic	1	1	1	147
MUT:RRM1:Arg381Cys	PROT:P23921	RRM1	R	381	C	R381C	Pathogenic	1	1	28	5
MUT:RRM1:Arg381His	PROT:P23921	RRM1	R	381	H	R381H	Likely pathogenic	1	2	28	5
MUT:RRM2B:Ala158Thr	PROT:Q7LG56	RRM2B	A	158	T	A158T	Likely pathogenic	1	1	11	8
MUT:RRM2B:Arg110Cys	PROT:Q7LG56	RRM2B	R	110	C	R110C	Likely pathogenic	1	2	11	38
MUT:RRM2B:Arg121His	PROT:Q7LG56	RRM2B	R	121	H	R121H	Pathogenic	1	2	11	45
MUT:RRM2B:Arg41Trp	PROT:Q7LG56	RRM2B	R	41	W	R41W	Pathogenic/Likely pathogenic	1	2	11	12
MUT:RRM2B:Asn343Asp	PROT:Q7LG56	RRM2B	N	343	D	N343D	Likely pathogenic	1	1	11	14
MUT:RRM2B:Cys236Phe	PROT:Q7LG56	RRM2B	C	236	F	C236F	Pathogenic	1	2	11	11
MUT:RRM2B:Glu194Lys	PROT:Q7LG56	RRM2B	E	194	K	E194K	Pathogenic	1	2	11	26
MUT:RRM2B:Gly229Val	PROT:Q7LG56	RRM2B	G	229	V	G229V	Pathogenic/Likely pathogenic	1	3	11	4
MUT:RRM2B:Ile224Ser	PROT:Q7LG56	RRM2B	I	224	S	I224S	Pathogenic/Likely pathogenic	1	3	11	1
MUT:RRM2B:Met282Ile	PROT:Q7LG56	RRM2B	M	282	I	M282I	Likely pathogenic	1	1	11	44
MUT:RRM2B:Val43Asp	PROT:Q7LG56	RRM2B	V	43	D	V43D	Likely pathogenic	1	1	11	14
MUT:RRP12:Glu477Lys	PROT:Q5JTH9	RRP12	E	477	K	E477K	Pathogenic	1	1	37	33
MUT:RRP12:Phe878Leu	PROT:Q5JTH9	RRP12	F	878	L	F878L	Pathogenic	1	1	37	32
MUT:RSRC1:Arg21His	PROT:Q96IZ7	RSRC1	R	21	H	R21H	Likely benign	0	1	15	15
MUT:RSRC1:Arg95Gly	PROT:Q96IZ7	RSRC1	R	95	G	R95G	Benign	0	1	15	21
MUT:RSRC1:Glu308Lys	PROT:Q96IZ7	RSRC1	E	308	K	E308K	Likely benign	0	3	15	1
MUT:RSRC1:Met1Ile	PROT:Q96IZ7	RSRC1	M	1	I	M1I	Pathogenic	1	1	15	4
MUT:RTN4IP1:Arg103His	PROT:Q8WWV3	RTN4IP1	R	103	H	R103H	Pathogenic	1	2	2	143
MUT:RTN4IP1:Gly321Glu	PROT:Q8WWV3	RTN4IP1	G	321	E	G321E	Pathogenic	1	1	2	25
MUT:RTN4IP1:Met1Thr	PROT:Q8WWV3	RTN4IP1	M	1	T	M1T	Pathogenic	1	1	2	245
MUT:RTN4IP1:Pro105Ser	PROT:Q8WWV3	RTN4IP1	P	105	S	P105S	Likely pathogenic	1	1	2	141
MUT:RTN4IP1:Ser167Phe	PROT:Q8WWV3	RTN4IP1	S	167	F	S167F	Pathogenic	1	1	2	79
MUT:RTN4IP1:Val365Ala	PROT:Q8WWV3	RTN4IP1	V	365	A	V365A	Likely benign	0	1	2	19
MUT:RTTN:Ala578Pro	PROT:Q86VV8	RTTN	A	578	P	A578P	Likely pathogenic	1	2	16	12
MUT:RTTN:Arg160Gln	PROT:Q86VV8	RTTN	R	160	Q	R160Q	Likely benign	0	1	16	11
MUT:RTTN:Arg1630Thr	PROT:Q86VV8	RTTN	R	1630	T	R1630T	Benign/Likely benign	0	5	16	102
MUT:RTTN:Arg985Gly	PROT:Q86VV8	RTTN	R	985	G	R985G	Pathogenic	1	1	16	60
MUT:RTTN:Asn1221Lys	PROT:Q86VV8	RTTN	N	1221	K	N1221K	Likely benign	0	2	16	176
MUT:RTTN:Asn1623Ser	PROT:Q86VV8	RTTN	N	1623	S	N1623S	Likely benign	0	1	16	95
MUT:RTTN:Asn1715Asp	PROT:Q86VV8	RTTN	N	1715	D	N1715D	Benign/Likely benign	0	2	16	121
MUT:RTTN:Asn278Ser	PROT:Q86VV8	RTTN	N	278	S	N278S	Benign	0	2	16	27
MUT:RTTN:Asp1917Gly	PROT:Q86VV8	RTTN	D	1917	G	D1917G	Likely pathogenic	1	2	16	35
MUT:RTTN:Asp212Ala	PROT:Q86VV8	RTTN	D	212	A	D212A	Likely benign	0	1	16	41
MUT:RTTN:Cys2013Phe	PROT:Q86VV8	RTTN	C	2013	F	C2013F	Benign/Likely benign	0	7	16	131
MUT:RTTN:Gln13Pro	PROT:Q86VV8	RTTN	Q	13	P	Q13P	Likely benign	0	1	16	158
MUT:RTTN:Gln165Pro	PROT:Q86VV8	RTTN	Q	165	P	Q165P	Benign/Likely benign	0	1	16	6
MUT:RTTN:Glu1194Gly	PROT:Q86VV8	RTTN	E	1194	G	E1194G	Benign/Likely benign	0	1	16	149
MUT:RTTN:Gly444Arg	PROT:Q86VV8	RTTN	G	444	R	G444R	Likely benign	0	1	16	122
MUT:RTTN:His1742Arg	PROT:Q86VV8	RTTN	H	1742	R	H1742R	Benign/Likely benign	0	1	16	94
MUT:RTTN:Ile1079Val	PROT:Q86VV8	RTTN	I	1079	V	I1079V	Likely benign	0	1	16	34
MUT:RTTN:Ile1757Val	PROT:Q86VV8	RTTN	I	1757	V	I1757V	Likely benign	0	1	16	79
MUT:RTTN:Ile641Val	PROT:Q86VV8	RTTN	I	641	V	I641V	Benign	0	1	16	24
MUT:RTTN:Leu1163Val	PROT:Q86VV8	RTTN	L	1163	V	L1163V	Likely benign	0	1	16	118
MUT:RTTN:Leu2213Ser	PROT:Q86VV8	RTTN	L	2213	S	L2213S	Likely pathogenic	1	1	16	16
MUT:RTTN:Leu224Phe	PROT:Q86VV8	RTTN	L	224	F	L224F	Likely pathogenic	1	1	16	53
MUT:RTTN:Leu932Phe	PROT:Q86VV8	RTTN	L	932	F	L932F	Pathogenic	1	1	16	83
MUT:RTTN:Lys1064Gln	PROT:Q86VV8	RTTN	K	1064	Q	K1064Q	Likely pathogenic	1	2	16	19
MUT:RTTN:Met760Val	PROT:Q86VV8	RTTN	M	760	V	M760V	Likely benign	0	1	16	10
MUT:RTTN:Phe1761Ser	PROT:Q86VV8	RTTN	F	1761	S	F1761S	Benign	0	1	16	75
MUT:RTTN:Phe269Leu	PROT:Q86VV8	RTTN	F	269	L	F269L	Benign/Likely benign	0	1	16	36
MUT:RTTN:Pro76Leu	PROT:Q86VV8	RTTN	P	76	L	P76L	Benign	0	1	16	95
MUT:RTTN:Ser126Ala	PROT:Q86VV8	RTTN	S	126	A	S126A	Benign	0	1	16	45
MUT:RTTN:Ser939Gly	PROT:Q86VV8	RTTN	S	939	G	S939G	Benign	0	1	16	90
MUT:RTTN:Val1824Met	PROT:Q86VV8	RTTN	V	1824	M	V1824M	Likely benign	0	1	16	12
MUT:RUBCNL:Gly179Arg	PROT:Q9H714	RUBCNL	G	179	R	G179R	Benign	0	7	5	22
MUT:RUNX2:Ala180Glu	PROT:Q13950	RUNX2	A	180	E	A180E	Pathogenic	1	1	26	4
MUT:RUNX2:Arg169Pro	PROT:Q13950	RUNX2	R	169	P	R169P	Pathogenic	1	1	26	7
MUT:RUNX2:Arg169Trp	PROT:Q13950	RUNX2	R	169	W	R169W	Pathogenic/Likely pathogenic	1	1	26	7
MUT:RUNX2:Arg190Gln	PROT:Q13950	RUNX2	R	190	Q	R190Q	Pathogenic	1	1	26	5
MUT:RUNX2:Arg190Trp	PROT:Q13950	RUNX2	R	190	W	R190W	Pathogenic	1	1	26	5
MUT:RUNX2:Arg225Gln	PROT:Q13950	RUNX2	R	225	Q	R225Q	Pathogenic	1	2	26	7
MUT:RUNX2:Arg225Trp	PROT:Q13950	RUNX2	R	225	W	R225W	Pathogenic	1	1	26	7
MUT:RUNX2:Gly159Asp	PROT:Q13950	RUNX2	G	159	D	G159D	Pathogenic/Likely pathogenic	1	1	26	17
MUT:RUNX2:Gly363Val	PROT:Q13950	RUNX2	G	363	V	G363V	Likely pathogenic	1	1	26	2
MUT:RUNX2:Gly511Ser	PROT:Q13950	RUNX2	G	511	S	G511S	Benign/Likely benign	0	1	26	8
MUT:RUNX2:Lys218Gln	PROT:Q13950	RUNX2	K	218	Q	K218Q	Likely pathogenic	1	1	26	0
MUT:RUNX2:Met175Arg	PROT:Q13950	RUNX2	M	175	R	M175R	Likely pathogenic	1	1	26	1
MUT:RUNX2:Ser191Asn	PROT:Q13950	RUNX2	S	191	N	S191N	Likely pathogenic	1	1	26	4
MUT:RUNX2:Ser191Gly	PROT:Q13950	RUNX2	S	191	G	S191G	Likely pathogenic	1	1	26	4
MUT:RUNX2:Thr200Ala	PROT:Q13950	RUNX2	T	200	A	T200A	Pathogenic	1	2	26	0
MUT:RUNX2:Trp130Arg	PROT:Q13950	RUNX2	W	130	R	W130R	Pathogenic	1	1	26	12
MUT:RUSC2:Arg163His	PROT:Q8N2Y8	RUSC2	R	163	H	R163H	Benign	0	1	15	160
MUT:RUSC2:Glu806Lys	PROT:Q8N2Y8	RUSC2	E	806	K	E806K	Benign/Likely benign	0	3	15	31
MUT:RUSC2:Gly512Cys	PROT:Q8N2Y8	RUSC2	G	512	C	G512C	Likely benign	0	1	15	6
MUT:RUSC2:Thr73Ala	PROT:Q8N2Y8	RUSC2	T	73	A	T73A	Benign	0	1	15	70
MUT:RXFP2:Asn339Asp	PROT:Q8WXD0	RXFP2	N	339	D	N339D	Likely pathogenic	1	1	1	95
MUT:RXRA:Ser224Asn	PROT:P19793	RXRA	S	224	N	S224N	Likely pathogenic	1	1	13	25
MUT:RXYLT1:Glu409Gly	PROT:Q9Y2B1	RXYLT1	E	409	G	E409G	Benign/Likely benign	0	1	1	346
MUT:RXYLT1:Gly333Arg	PROT:Q9Y2B1	RXYLT1	G	333	R	G333R	Pathogenic/Likely pathogenic	1	1	1	270
MUT:RXYLT1:Tyr339Cys	PROT:Q9Y2B1	RXYLT1	Y	339	C	Y339C	Pathogenic/Likely pathogenic	1	2	1	276
MUT:RXYLT1:Val237Met	PROT:Q9Y2B1	RXYLT1	V	237	M	V237M	Likely benign	0	1	1	174
MUT:RYR1:Ala1352Gly	PROT:P21817	RYR1	A	1352	G	A1352G	Benign	0	4	34	15
MUT:RYR1:Ala140Thr	PROT:P21817	RYR1	A	140	T	A140T	Likely benign	0	2	34	17
MUT:RYR1:Ala152Asp	PROT:P21817	RYR1	A	152	D	A152D	Likely pathogenic	1	1	34	5
MUT:RYR1:Ala1913Thr	PROT:P21817	RYR1	A	1913	T	A1913T	Likely benign	0	1	34	52
MUT:RYR1:Ala2200Val	PROT:P21817	RYR1	A	2200	V	A2200V	Likely pathogenic	1	4	34	115
MUT:RYR1:Ala2428Ser	PROT:P21817	RYR1	A	2428	S	A2428S	Likely pathogenic	1	1	34	2
MUT:RYR1:Ala2437Val	PROT:P21817	RYR1	A	2437	V	A2437V	Likely pathogenic	1	1	34	11
MUT:RYR1:Ala2727Thr	PROT:P21817	RYR1	A	2727	T	A2727T	Benign/Likely benign	0	2	34	87
MUT:RYR1:Ala3118Val	PROT:P21817	RYR1	A	3118	V	A3118V	Benign	0	4	34	39
MUT:RYR1:Ala3215Val	PROT:P21817	RYR1	A	3215	V	A3215V	Likely benign	0	1	34	136
MUT:RYR1:Ala3342Val	PROT:P21817	RYR1	A	3342	V	A3342V	Likely benign	0	2	34	263
MUT:RYR1:Ala4185Thr	PROT:P21817	RYR1	A	4185	T	A4185T	Likely benign	0	5	34	27
MUT:RYR1:Ala4295Val	PROT:P21817	RYR1	A	4295	V	A4295V	Benign	0	4	34	83
MUT:RYR1:Ala4329Asp	PROT:P21817	RYR1	A	4329	D	A4329D	Pathogenic	1	1	34	117
MUT:RYR1:Ala4408Pro	PROT:P21817	RYR1	A	4408	P	A4408P	Likely benign	0	1	34	143
MUT:RYR1:Ala4616Asp	PROT:P21817	RYR1	A	4616	D	A4616D	Likely benign	0	2	34	65
MUT:RYR1:Ala4753Thr	PROT:P21817	RYR1	A	4753	T	A4753T	Likely benign	0	2	34	70
MUT:RYR1:Ala4906Val	PROT:P21817	RYR1	A	4906	V	A4906V	Likely pathogenic	1	2	34	39
MUT:RYR1:Ala933Thr	PROT:P21817	RYR1	A	933	T	A933T	Benign	0	4	34	152
MUT:RYR1:Arg1075Gln	PROT:P21817	RYR1	R	1075	Q	R1075Q	Likely benign	0	5	34	262
MUT:RYR1:Arg1075Trp	PROT:P21817	RYR1	R	1075	W	R1075W	Pathogenic/Likely pathogenic	1	3	34	262
MUT:RYR1:Arg1109Lys	PROT:P21817	RYR1	R	1109	K	R1109K	Benign/Likely benign	0	4	34	228
MUT:RYR1:Arg1645Leu	PROT:P21817	RYR1	R	1645	L	R1645L	Likely pathogenic	1	1	34	251
MUT:RYR1:Arg1667Cys	PROT:P21817	RYR1	R	1667	C	R1667C	Benign	0	4	34	273
MUT:RYR1:Arg1679His	PROT:P21817	RYR1	R	1679	H	R1679H	Likely benign	0	5	34	285
MUT:RYR1:Arg177Cys	PROT:P21817	RYR1	R	177	C	R177C	Pathogenic	1	2	34	16
MUT:RYR1:Arg2071Gln	PROT:P21817	RYR1	R	2071	Q	R2071Q	Likely benign	0	2	34	2
MUT:RYR1:Arg2163Gly	PROT:P21817	RYR1	R	2163	G	R2163G	Likely pathogenic	1	1	34	78
MUT:RYR1:Arg2163Leu	PROT:P21817	RYR1	R	2163	L	R2163L	Likely pathogenic	1	2	34	78
MUT:RYR1:Arg2163Pro	PROT:P21817	RYR1	R	2163	P	R2163P	Likely pathogenic	1	1	34	78
MUT:RYR1:Arg2224Cys	PROT:P21817	RYR1	R	2224	C	R2224C	Likely benign	0	2	34	121
MUT:RYR1:Arg2234Ser	PROT:P21817	RYR1	R	2234	S	R2234S	Pathogenic	1	1	34	111
MUT:RYR1:Arg2336Cys	PROT:P21817	RYR1	R	2336	C	R2336C	Likely pathogenic	1	1	34	9
MUT:RYR1:Arg2336Leu	PROT:P21817	RYR1	R	2336	L	R2336L	Likely pathogenic	1	1	34	9
MUT:RYR1:Arg2359Gln	PROT:P21817	RYR1	R	2359	Q	R2359Q	Likely pathogenic	1	3	34	14
MUT:RYR1:Arg242Lys	PROT:P21817	RYR1	R	242	K	R242K	Likely pathogenic	1	1	34	3
MUT:RYR1:Arg2435Leu	PROT:P21817	RYR1	R	2435	L	R2435L	Likely pathogenic	1	3	34	9
MUT:RYR1:Arg2452Gly	PROT:P21817	RYR1	R	2452	G	R2452G	Likely pathogenic	1	1	34	7
MUT:RYR1:Arg2454Ser	PROT:P21817	RYR1	R	2454	S	R2454S	Likely pathogenic	1	1	34	5
MUT:RYR1:Arg2458Leu	PROT:P21817	RYR1	R	2458	L	R2458L	Likely pathogenic	1	1	34	1
MUT:RYR1:Arg2508Cys	PROT:P21817	RYR1	R	2508	C	R2508C	Likely pathogenic	1	6	34	49
MUT:RYR1:Arg2508Pro	PROT:P21817	RYR1	R	2508	P	R2508P	Likely pathogenic	1	1	34	49
MUT:RYR1:Arg2508Ser	PROT:P21817	RYR1	R	2508	S	R2508S	Likely pathogenic	1	1	34	49
MUT:RYR1:Arg2676Gln	PROT:P21817	RYR1	R	2676	Q	R2676Q	Likely pathogenic	1	1	34	80
MUT:RYR1:Arg2676Trp	PROT:P21817	RYR1	R	2676	W	R2676W	Likely pathogenic	1	3	34	80
MUT:RYR1:Arg3366His	PROT:P21817	RYR1	R	3366	H	R3366H	Likely benign	0	6	34	287
MUT:RYR1:Arg3539His	PROT:P21817	RYR1	R	3539	H	R3539H	Likely benign	0	5	34	129
MUT:RYR1:Arg3550Trp	PROT:P21817	RYR1	R	3550	W	R3550W	Likely pathogenic	1	5	34	118
MUT:RYR1:Arg3577Gly	PROT:P21817	RYR1	R	3577	G	R3577G	Likely pathogenic	1	1	34	91
MUT:RYR1:Arg3772Gln	PROT:P21817	RYR1	R	3772	Q	R3772Q	Pathogenic/Likely pathogenic	1	3	34	1
MUT:RYR1:Arg3903Gln	PROT:P21817	RYR1	R	3903	Q	R3903Q	Pathogenic/Likely pathogenic	1	4	34	15
MUT:RYR1:Arg3903Leu	PROT:P21817	RYR1	R	3903	L	R3903L	Likely pathogenic	1	1	34	15
MUT:RYR1:Arg3983His	PROT:P21817	RYR1	R	3983	H	R3983H	Likely pathogenic	1	1	34	62
MUT:RYR1:Arg401His	PROT:P21817	RYR1	R	401	H	R401H	Pathogenic	1	4	34	156
MUT:RYR1:Arg401Leu	PROT:P21817	RYR1	R	401	L	R401L	Likely pathogenic	1	2	34	156
MUT:RYR1:Arg4136Ser	PROT:P21817	RYR1	R	4136	S	R4136S	Likely benign	0	2	34	76
MUT:RYR1:Arg4179Cys	PROT:P21817	RYR1	R	4179	C	R4179C	Likely pathogenic	1	1	34	33
MUT:RYR1:Arg4179His	PROT:P21817	RYR1	R	4179	H	R4179H	Likely pathogenic	1	1	34	33
MUT:RYR1:Arg44Pro	PROT:P21817	RYR1	R	44	P	R44P	Likely pathogenic	1	1	34	15
MUT:RYR1:Arg4558Gly	PROT:P21817	RYR1	R	4558	G	R4558G	Pathogenic	1	1	34	7
MUT:RYR1:Arg4723His	PROT:P21817	RYR1	R	4723	H	R4723H	Likely benign	0	3	34	100
MUT:RYR1:Arg4737Gln	PROT:P21817	RYR1	R	4737	Q	R4737Q	Pathogenic	1	2	34	86
MUT:RYR1:Arg4737Trp	PROT:P21817	RYR1	R	4737	W	R4737W	Likely pathogenic	1	3	34	86
MUT:RYR1:Arg4825Cys	PROT:P21817	RYR1	R	4825	C	R4825C	Pathogenic/Likely pathogenic	1	4	34	1
MUT:RYR1:Arg4861Gly	PROT:P21817	RYR1	R	4861	G	R4861G	Likely pathogenic	1	1	34	3
MUT:RYR1:Arg4861Pro	PROT:P21817	RYR1	R	4861	P	R4861P	Pathogenic	1	1	34	3
MUT:RYR1:Arg4893Leu	PROT:P21817	RYR1	R	4893	L	R4893L	Likely pathogenic	1	1	34	26
MUT:RYR1:Arg4893Pro	PROT:P21817	RYR1	R	4893	P	R4893P	Pathogenic	1	1	34	26
MUT:RYR1:Arg4893Trp	PROT:P21817	RYR1	R	4893	W	R4893W	Pathogenic/Likely pathogenic	1	3	34	26
MUT:RYR1:Arg4914Gly	PROT:P21817	RYR1	R	4914	G	R4914G	Pathogenic	1	1	34	47
MUT:RYR1:Arg4914Thr	PROT:P21817	RYR1	R	4914	T	R4914T	Pathogenic	1	1	34	47
MUT:RYR1:Arg4914Trp	PROT:P21817	RYR1	R	4914	W	R4914W	Likely pathogenic	1	1	34	47
MUT:RYR1:Arg530His	PROT:P21817	RYR1	R	530	H	R530H	Likely pathogenic	1	5	34	251
MUT:RYR1:Arg530Ser	PROT:P21817	RYR1	R	530	S	R530S	Likely pathogenic	1	1	34	251
MUT:RYR1:Arg614Gly	PROT:P21817	RYR1	R	614	G	R614G	Likely pathogenic	1	1	34	167
MUT:RYR1:Arg614His	PROT:P21817	RYR1	R	614	H	R614H	Likely pathogenic	1	2	34	167
MUT:RYR1:Arg682Gly	PROT:P21817	RYR1	R	682	G	R682G	Likely pathogenic	1	1	34	99
MUT:RYR1:Arg789Leu	PROT:P21817	RYR1	R	789	L	R789L	Likely pathogenic	1	1	34	8
MUT:RYR1:Asn1972Ile	PROT:P21817	RYR1	N	1972	I	N1972I	Pathogenic/Likely pathogenic	1	2	34	7
MUT:RYR1:Asn2342Ser	PROT:P21817	RYR1	N	2342	S	N2342S	Benign/Likely benign	0	5	34	3
MUT:RYR1:Asn43Thr	PROT:P21817	RYR1	N	43	T	N43T	Likely pathogenic	1	1	34	14
MUT:RYR1:Asn4575Ser	PROT:P21817	RYR1	N	4575	S	N4575S	Likely pathogenic	1	1	34	24
MUT:RYR1:Asn4575Thr	PROT:P21817	RYR1	N	4575	T	N4575T	Pathogenic/Likely pathogenic	1	2	34	24
MUT:RYR1:Asn4806Asp	PROT:P21817	RYR1	N	4806	D	N4806D	Pathogenic/Likely pathogenic	1	3	34	17
MUT:RYR1:Asn4858Asp	PROT:P21817	RYR1	N	4858	D	N4858D	Pathogenic	1	1	34	6
MUT:RYR1:Asn759Ser	PROT:P21817	RYR1	N	759	S	N759S	Likely pathogenic	1	1	34	22
MUT:RYR1:Asp1056His	PROT:P21817	RYR1	D	1056	H	D1056H	Likely pathogenic	1	2	34	275
MUT:RYR1:Asp2129Glu	PROT:P21817	RYR1	D	2129	E	D2129E	Likely pathogenic	1	1	34	44
MUT:RYR1:Asp2252Glu	PROT:P21817	RYR1	D	2252	E	D2252E	Likely benign	0	1	34	93
MUT:RYR1:Asp2431Asn	PROT:P21817	RYR1	D	2431	N	D2431N	Likely pathogenic	1	4	34	5
MUT:RYR1:Asp2431Tyr	PROT:P21817	RYR1	D	2431	Y	D2431Y	Likely pathogenic	1	3	34	5
MUT:RYR1:Asp2431Val	PROT:P21817	RYR1	D	2431	V	D2431V	Likely pathogenic	1	1	34	5
MUT:RYR1:Asp2730Gly	PROT:P21817	RYR1	D	2730	G	D2730G	Likely pathogenic	1	2	34	84
MUT:RYR1:Asp2943Asn	PROT:P21817	RYR1	D	2943	N	D2943N	Benign/Likely benign	0	2	34	10
MUT:RYR1:Asp3986Glu	PROT:P21817	RYR1	D	3986	E	D3986E	Likely pathogenic	1	2	34	65
MUT:RYR1:Asp4505His	PROT:P21817	RYR1	D	4505	H	D4505H	Benign	0	4	34	46
MUT:RYR1:Asp4816Gly	PROT:P21817	RYR1	D	4816	G	D4816G	Pathogenic	1	1	34	7
MUT:RYR1:Asp4918Asn	PROT:P21817	RYR1	D	4918	N	D4918N	Pathogenic	1	2	34	51
MUT:RYR1:Asp544Tyr	PROT:P21817	RYR1	D	544	Y	D544Y	Likely pathogenic	1	1	34	237
MUT:RYR1:Asp60Gly	PROT:P21817	RYR1	D	60	G	D60G	Likely pathogenic	1	1	34	31
MUT:RYR1:Cys1685Arg	PROT:P21817	RYR1	C	1685	R	C1685R	Likely pathogenic	1	1	34	280
MUT:RYR1:Cys1685Gly	PROT:P21817	RYR1	C	1685	G	C1685G	Likely pathogenic	1	1	34	280
MUT:RYR1:Cys229Arg	PROT:P21817	RYR1	C	229	R	C229R	Likely pathogenic	1	1	34	16
MUT:RYR1:Cys2606Ser	PROT:P21817	RYR1	C	2606	S	C2606S	Likely benign	0	1	34	10
MUT:RYR1:Cys3304Arg	PROT:P21817	RYR1	C	3304	R	C3304R	Likely pathogenic	1	1	34	225
MUT:RYR1:Cys3402Gly	PROT:P21817	RYR1	C	3402	G	C3402G	Pathogenic	1	6	34	266
MUT:RYR1:Cys565Tyr	PROT:P21817	RYR1	C	565	Y	C565Y	Likely benign	0	1	34	216
MUT:RYR1:Gln1061Arg	PROT:P21817	RYR1	Q	1061	R	Q1061R	Likely benign	0	2	34	276
MUT:RYR1:Gln155Lys	PROT:P21817	RYR1	Q	155	K	Q155K	Likely pathogenic	1	1	34	2
MUT:RYR1:Gln1630Arg	PROT:P21817	RYR1	Q	1630	R	Q1630R	Likely benign	0	1	34	236
MUT:RYR1:Gln3756Glu	PROT:P21817	RYR1	Q	3756	E	Q3756E	Benign	0	3	34	5
MUT:RYR1:Gln3899Arg	PROT:P21817	RYR1	Q	3899	R	Q3899R	Likely pathogenic	1	1	34	19
MUT:RYR1:Gln3905His	PROT:P21817	RYR1	Q	3905	H	Q3905H	Likely pathogenic	1	1	34	13
MUT:RYR1:Gln4208Arg	PROT:P21817	RYR1	Q	4208	R	Q4208R	Likely pathogenic	1	1	34	4
MUT:RYR1:Gln464Lys	PROT:P21817	RYR1	Q	464	K	Q464K	Likely pathogenic	1	1	34	219
MUT:RYR1:Gln474Leu	PROT:P21817	RYR1	Q	474	L	Q474L	Likely pathogenic	1	1	34	229
MUT:RYR1:Gln4934Leu	PROT:P21817	RYR1	Q	4934	L	Q4934L	Likely pathogenic	1	1	34	67
MUT:RYR1:Glu1878Asp	PROT:P21817	RYR1	E	1878	D	E1878D	Benign/Likely benign	0	2	34	87
MUT:RYR1:Glu1997Lys	PROT:P21817	RYR1	E	1997	K	E1997K	Pathogenic/Likely pathogenic	1	3	34	32
MUT:RYR1:Glu2348Gly	PROT:P21817	RYR1	E	2348	G	E2348G	Likely pathogenic	1	1	34	3
MUT:RYR1:Glu2362Lys	PROT:P21817	RYR1	E	2362	K	E2362K	Likely pathogenic	1	3	34	17
MUT:RYR1:Glu2371Lys	PROT:P21817	RYR1	E	2371	K	E2371K	Pathogenic/Likely pathogenic	1	2	34	26
MUT:RYR1:Glu320Lys	PROT:P21817	RYR1	E	320	K	E320K	Pathogenic/Likely pathogenic	1	2	34	75
MUT:RYR1:Glu342Lys	PROT:P21817	RYR1	E	342	K	E342K	Likely pathogenic	1	1	34	97
MUT:RYR1:Glu3583Gln	PROT:P21817	RYR1	E	3583	Q	E3583Q	Benign	0	5	34	85
MUT:RYR1:Glu3853Gln	PROT:P21817	RYR1	E	3853	Q	E3853Q	Likely pathogenic	1	1	34	65
MUT:RYR1:Glu396Lys	PROT:P21817	RYR1	E	396	K	E396K	Likely pathogenic	1	1	34	151
MUT:RYR1:Glu4049Asp	PROT:P21817	RYR1	E	4049	D	E4049D	Likely pathogenic	1	1	34	128
MUT:RYR1:Glu4049Gln	PROT:P21817	RYR1	E	4049	Q	E4049Q	Likely pathogenic	1	1	34	128
MUT:RYR1:Glu4049Leu	PROT:P21817	RYR1	E	4049	L	E4049L	Likely pathogenic	1	1	34	128
MUT:RYR1:Glu4243Asp	PROT:P21817	RYR1	E	4243	D	E4243D	Likely pathogenic	1	1	34	31
MUT:RYR1:Glu4243Lys	PROT:P21817	RYR1	E	4243	K	E4243K	Pathogenic/Likely pathogenic	1	1	34	31
MUT:RYR1:Glu4283Lys	PROT:P21817	RYR1	E	4283	K	E4283K	Benign/Likely benign	0	1	34	71
MUT:RYR1:Glu4634Lys	PROT:P21817	RYR1	E	4634	K	E4634K	Pathogenic	1	1	34	83
MUT:RYR1:Glu4635Lys	PROT:P21817	RYR1	E	4635	K	E4635K	Pathogenic	1	1	34	84
MUT:RYR1:Glu664Gln	PROT:P21817	RYR1	E	664	Q	E664Q	Likely pathogenic	1	1	34	117
MUT:RYR1:Gly159Arg	PROT:P21817	RYR1	G	159	R	G159R	Likely pathogenic	1	1	34	2
MUT:RYR1:Gly1832Ala	PROT:P21817	RYR1	G	1832	A	G1832A	Benign	0	1	34	133
MUT:RYR1:Gly2060Cys	PROT:P21817	RYR1	G	2060	C	G2060C	Benign	0	4	34	9
MUT:RYR1:Gly2375Arg	PROT:P21817	RYR1	G	2375	R	G2375R	Likely pathogenic	1	3	34	30
MUT:RYR1:Gly2448Asp	PROT:P21817	RYR1	G	2448	D	G2448D	Pathogenic	1	1	34	11
MUT:RYR1:Gly248Arg	PROT:P21817	RYR1	G	248	R	G248R	Likely pathogenic	1	5	34	3
MUT:RYR1:Gly341Arg	PROT:P21817	RYR1	G	341	R	G341R	Pathogenic	1	2	34	96
MUT:RYR1:Gly341Trp	PROT:P21817	RYR1	G	341	W	G341W	Likely pathogenic	1	1	34	96
MUT:RYR1:Gly4104Arg	PROT:P21817	RYR1	G	4104	R	G4104R	Likely benign	0	1	34	108
MUT:RYR1:Gly4638Val	PROT:P21817	RYR1	G	4638	V	G4638V	Likely pathogenic	1	1	34	87
MUT:RYR1:Gly4743Ser	PROT:P21817	RYR1	G	4743	S	G4743S	Likely pathogenic	1	1	34	80
MUT:RYR1:Gly4743Val	PROT:P21817	RYR1	G	4743	V	G4743V	Likely pathogenic	1	1	34	80
MUT:RYR1:Gly4891Arg	PROT:P21817	RYR1	G	4891	R	G4891R	Pathogenic	1	1	34	24
MUT:RYR1:Gly4891Ser	PROT:P21817	RYR1	G	4891	S	G4891S	Likely pathogenic	1	1	34	24
MUT:RYR1:Gly4895Val	PROT:P21817	RYR1	G	4895	V	G4895V	Pathogenic	1	1	34	28
MUT:RYR1:Gly4897Asp	PROT:P21817	RYR1	G	4897	D	G4897D	Likely pathogenic	1	2	34	30
MUT:RYR1:Gly4897Val	PROT:P21817	RYR1	G	4897	V	G4897V	Pathogenic	1	1	34	30
MUT:RYR1:Gly4899Glu	PROT:P21817	RYR1	G	4899	E	G4899E	Pathogenic/Likely pathogenic	1	2	34	32
MUT:RYR1:Gly4935Ser	PROT:P21817	RYR1	G	4935	S	G4935S	Likely pathogenic	1	1	34	68
MUT:RYR1:Gly5006Ser	PROT:P21817	RYR1	G	5006	S	G5006S	Pathogenic/Likely pathogenic	1	2	34	139
MUT:RYR1:Gly707Ser	PROT:P21817	RYR1	G	707	S	G707S	Pathogenic/Likely pathogenic	1	2	34	74
MUT:RYR1:Gly893Ser	PROT:P21817	RYR1	G	893	S	G893S	Benign	0	5	34	112
MUT:RYR1:His2253Tyr	PROT:P21817	RYR1	H	2253	Y	H2253Y	Likely pathogenic	1	2	34	92
MUT:RYR1:His3647Gln	PROT:P21817	RYR1	H	3647	Q	H3647Q	Benign/Likely benign	0	2	34	21
MUT:RYR1:His3981Tyr	PROT:P21817	RYR1	H	3981	Y	H3981Y	Benign/Likely benign	0	3	34	60
MUT:RYR1:His4651Arg	PROT:P21817	RYR1	H	4651	R	H4651R	Pathogenic/Likely pathogenic	1	1	34	100
MUT:RYR1:His4651Pro	PROT:P21817	RYR1	H	4651	P	H4651P	Pathogenic	1	2	34	100
MUT:RYR1:His4804Arg	PROT:P21817	RYR1	H	4804	R	H4804R	Likely pathogenic	1	1	34	19
MUT:RYR1:His4813Arg	PROT:P21817	RYR1	H	4813	R	H4813R	Likely pathogenic	1	1	34	10
MUT:RYR1:His4813Tyr	PROT:P21817	RYR1	H	4813	Y	H4813Y	Pathogenic/Likely pathogenic	1	3	34	10
MUT:RYR1:His4887Tyr	PROT:P21817	RYR1	H	4887	Y	H4887Y	Likely pathogenic	1	2	34	20
MUT:RYR1:Ile1571Val	PROT:P21817	RYR1	I	1571	V	I1571V	Likely benign	0	5	34	177
MUT:RYR1:Ile2167Ser	PROT:P21817	RYR1	I	2167	S	I2167S	Likely pathogenic	1	1	34	82
MUT:RYR1:Ile2321Val	PROT:P21817	RYR1	I	2321	V	I2321V	Benign	0	4	34	24
MUT:RYR1:Ile2453Thr	PROT:P21817	RYR1	I	2453	T	I2453T	Likely pathogenic	1	3	34	6
MUT:RYR1:Ile448Phe	PROT:P21817	RYR1	I	448	F	I448F	Pathogenic/Likely pathogenic	1	3	34	203
MUT:RYR1:Ile4937Met	PROT:P21817	RYR1	I	4937	M	I4937M	Pathogenic/Likely pathogenic	1	2	34	70
MUT:RYR1:Leu13Arg	PROT:P21817	RYR1	L	13	R	L13R	Likely pathogenic	1	2	34	16
MUT:RYR1:Leu2286Val	PROT:P21817	RYR1	L	2286	V	L2286V	Likely pathogenic	1	3	34	59
MUT:RYR1:Leu2550Val	PROT:P21817	RYR1	L	2550	V	L2550V	Benign	0	1	34	44
MUT:RYR1:Leu2963Pro	PROT:P21817	RYR1	L	2963	P	L2963P	Pathogenic	1	6	34	10
MUT:RYR1:Leu3606Pro	PROT:P21817	RYR1	L	3606	P	L3606P	Likely pathogenic	1	2	34	62
MUT:RYR1:Leu3641Pro	PROT:P21817	RYR1	L	3641	P	L3641P	Likely pathogenic	1	1	34	27
MUT:RYR1:Leu417Pro	PROT:P21817	RYR1	L	417	P	L417P	Pathogenic/Likely pathogenic	1	5	34	172
MUT:RYR1:Leu4633Gln	PROT:P21817	RYR1	L	4633	Q	L4633Q	Likely pathogenic	1	1	34	82
MUT:RYR1:Leu4633Pro	PROT:P21817	RYR1	L	4633	P	L4633P	Likely pathogenic	1	1	34	82
MUT:RYR1:Leu4647Gln	PROT:P21817	RYR1	L	4647	Q	L4647Q	Likely pathogenic	1	1	34	96
MUT:RYR1:Leu4647Pro	PROT:P21817	RYR1	L	4647	P	L4647P	Likely pathogenic	1	1	34	96
MUT:RYR1:Leu4814Phe	PROT:P21817	RYR1	L	4814	F	L4814F	Pathogenic	1	1	34	9
MUT:RYR1:Leu4851Val	PROT:P21817	RYR1	L	4851	V	L4851V	Likely pathogenic	1	1	34	13
MUT:RYR1:Leu4930Trp	PROT:P21817	RYR1	L	4930	W	L4930W	Likely pathogenic	1	1	34	63
MUT:RYR1:Leu4936Arg	PROT:P21817	RYR1	L	4936	R	L4936R	Pathogenic/Likely pathogenic	1	1	34	69
MUT:RYR1:Leu931Pro	PROT:P21817	RYR1	L	931	P	L931P	Likely pathogenic	1	1	34	150
MUT:RYR1:Lys1393Arg	PROT:P21817	RYR1	K	1393	R	K1393R	Benign	0	5	34	1
MUT:RYR1:Lys33Asn	PROT:P21817	RYR1	K	33	N	K33N	Likely pathogenic	1	1	34	4
MUT:RYR1:Lys33Glu	PROT:P21817	RYR1	K	33	E	K33E	Likely pathogenic	1	3	34	4
MUT:RYR1:Lys4862Thr	PROT:P21817	RYR1	K	4862	T	K4862T	Pathogenic	1	1	34	2
MUT:RYR1:Lys4866Glu	PROT:P21817	RYR1	K	4866	E	K4866E	Likely pathogenic	1	1	34	1
MUT:RYR1:Lys4876Arg	PROT:P21817	RYR1	K	4876	R	K4876R	Pathogenic	1	1	34	9
MUT:RYR1:Lys597Asn	PROT:P21817	RYR1	K	597	N	K597N	Likely pathogenic	1	1	34	184
MUT:RYR1:Met115Ile	PROT:P21817	RYR1	M	115	I	M115I	Likely pathogenic	1	1	34	42
MUT:RYR1:Met1572Thr	PROT:P21817	RYR1	M	1572	T	M1572T	Likely pathogenic	1	1	34	178
MUT:RYR1:Met402Thr	PROT:P21817	RYR1	M	402	T	M402T	Likely pathogenic	1	3	34	157
MUT:RYR1:Met4640Arg	PROT:P21817	RYR1	M	4640	R	M4640R	Pathogenic/Likely pathogenic	1	1	34	89
MUT:RYR1:Phe2364Val	PROT:P21817	RYR1	F	2364	V	F2364V	Likely pathogenic	1	2	34	19
MUT:RYR1:Phe4194Leu	PROT:P21817	RYR1	F	4194	L	F4194L	Pathogenic/Likely pathogenic	1	1	34	18
MUT:RYR1:Phe4808Cys	PROT:P21817	RYR1	F	4808	C	F4808C	Likely pathogenic	1	1	34	15
MUT:RYR1:Phe4857Leu	PROT:P21817	RYR1	F	4857	L	F4857L	Pathogenic	1	2	34	7
MUT:RYR1:Phe4857Ser	PROT:P21817	RYR1	F	4857	S	F4857S	Pathogenic	1	1	34	7
MUT:RYR1:Phe4857Tyr	PROT:P21817	RYR1	F	4857	Y	F4857Y	Likely pathogenic	1	1	34	7
MUT:RYR1:Phe4921Ser	PROT:P21817	RYR1	F	4921	S	F4921S	Pathogenic	1	2	34	54
MUT:RYR1:Phe4921Thr	PROT:P21817	RYR1	F	4921	T	F4921T	Likely pathogenic	1	2	34	54
MUT:RYR1:Phe4976Leu	PROT:P21817	RYR1	F	4976	L	F4976L	Pathogenic	1	6	34	109
MUT:RYR1:Phe539Leu	PROT:P21817	RYR1	F	539	L	F539L	Likely pathogenic	1	2	34	242
MUT:RYR1:Phe539Val	PROT:P21817	RYR1	F	539	V	F539V	Likely pathogenic	1	1	34	242
MUT:RYR1:Pro1267Ala	PROT:P21817	RYR1	P	1267	A	P1267A	Likely pathogenic	1	1	34	70
MUT:RYR1:Pro1267Arg	PROT:P21817	RYR1	P	1267	R	P1267R	Pathogenic/Likely pathogenic	1	4	34	70
MUT:RYR1:Pro1316Thr	PROT:P21817	RYR1	P	1316	T	P1316T	Benign/Likely benign	0	2	34	21
MUT:RYR1:Pro1773Ser	PROT:P21817	RYR1	P	1773	S	P1773S	Benign	0	3	34	192
MUT:RYR1:Pro1787Leu	PROT:P21817	RYR1	P	1787	L	P1787L	Benign	0	5	34	178
MUT:RYR1:Pro1868Ala	PROT:P21817	RYR1	P	1868	A	P1868A	Likely benign	0	1	34	97
MUT:RYR1:Pro3527Ser	PROT:P21817	RYR1	P	3527	S	P3527S	Pathogenic	1	1	34	141
MUT:RYR1:Pro4175Ala	PROT:P21817	RYR1	P	4175	A	P4175A	Likely benign	0	2	34	37
MUT:RYR1:Pro4495Gln	PROT:P21817	RYR1	P	4495	Q	P4495Q	Likely benign	0	1	34	56
MUT:RYR1:Pro4501Leu	PROT:P21817	RYR1	P	4501	L	P4501L	Benign	0	3	34	50
MUT:RYR1:Pro4973Leu	PROT:P21817	RYR1	P	4973	L	P4973L	Pathogenic/Likely pathogenic	1	5	34	106
MUT:RYR1:Pro816Leu	PROT:P21817	RYR1	P	816	L	P816L	Likely benign	0	3	34	35
MUT:RYR1:Ser1342Gly	PROT:P21817	RYR1	S	1342	G	S1342G	Benign	0	4	34	5
MUT:RYR1:Ser1728Phe	PROT:P21817	RYR1	S	1728	F	S1728F	Likely pathogenic	1	4	34	237
MUT:RYR1:Ser2345Arg	PROT:P21817	RYR1	S	2345	R	S2345R	Likely pathogenic	1	3	34	0
MUT:RYR1:Ser2345Asn	PROT:P21817	RYR1	S	2345	N	S2345N	Likely pathogenic	1	1	34	0
MUT:RYR1:Ser2776Phe	PROT:P21817	RYR1	S	2776	F	S2776F	Likely benign	0	3	34	38
MUT:RYR1:Ser3074Phe	PROT:P21817	RYR1	S	3074	F	S3074F	Likely pathogenic	1	1	34	5
MUT:RYR1:Ser4050Tyr	PROT:P21817	RYR1	S	4050	Y	S4050Y	Likely pathogenic	1	2	34	129
MUT:RYR1:Ser4112Leu	PROT:P21817	RYR1	S	4112	L	S4112L	Likely pathogenic	1	3	34	100
MUT:RYR1:Ser4830Pro	PROT:P21817	RYR1	S	4830	P	S4830P	Likely pathogenic	1	1	34	1
MUT:RYR1:Ser4830Tyr	PROT:P21817	RYR1	S	4830	Y	S4830Y	Likely pathogenic	1	1	34	1
MUT:RYR1:Ser4867Arg	PROT:P21817	RYR1	S	4867	R	S4867R	Likely pathogenic	1	1	34	0
MUT:RYR1:Ser557Phe	PROT:P21817	RYR1	S	557	F	S557F	Pathogenic	1	1	34	224
MUT:RYR1:Thr2206Met	PROT:P21817	RYR1	T	2206	M	T2206M	Pathogenic	1	5	34	121
MUT:RYR1:Thr2675Lys	PROT:P21817	RYR1	T	2675	K	T2675K	Likely pathogenic	1	1	34	79
MUT:RYR1:Thr2787Ser	PROT:P21817	RYR1	T	2787	S	T2787S	Benign	0	6	34	27
MUT:RYR1:Thr3711Lys	PROT:P21817	RYR1	T	3711	K	T3711K	Likely pathogenic	1	1	34	40
MUT:RYR1:Thr4294Met	PROT:P21817	RYR1	T	4294	M	T4294M	Benign	0	4	34	82
MUT:RYR1:Thr4637Ala	PROT:P21817	RYR1	T	4637	A	T4637A	Pathogenic/Likely pathogenic	1	3	34	86
MUT:RYR1:Thr4637Ile	PROT:P21817	RYR1	T	4637	I	T4637I	Pathogenic	1	2	34	86
MUT:RYR1:Thr4709Arg	PROT:P21817	RYR1	T	4709	R	T4709R	Likely pathogenic	1	1	34	114
MUT:RYR1:Thr4853Asn	PROT:P21817	RYR1	T	4853	N	T4853N	Pathogenic	1	1	34	11
MUT:RYR1:Thr4920Asn	PROT:P21817	RYR1	T	4920	N	T4920N	Likely pathogenic	1	2	34	53
MUT:RYR1:Thr4920Ile	PROT:P21817	RYR1	T	4920	I	T4920I	Likely pathogenic	1	1	34	53
MUT:RYR1:Tyr1088Cys	PROT:P21817	RYR1	Y	1088	C	Y1088C	Likely pathogenic	1	1	34	249
MUT:RYR1:Tyr178Cys	PROT:P21817	RYR1	Y	178	C	Y178C	Likely pathogenic	1	1	34	17
MUT:RYR1:Tyr2805Ser	PROT:P21817	RYR1	Y	2805	S	Y2805S	Likely benign	0	1	34	9
MUT:RYR1:Tyr3016Cys	PROT:P21817	RYR1	Y	3016	C	Y3016C	Pathogenic/Likely pathogenic	1	1	34	11
MUT:RYR1:Tyr3642Asp	PROT:P21817	RYR1	Y	3642	D	Y3642D	Likely pathogenic	1	1	34	26
MUT:RYR1:Tyr3933Cys	PROT:P21817	RYR1	Y	3933	C	Y3933C	Likely benign	0	5	34	12
MUT:RYR1:Tyr4631Asn	PROT:P21817	RYR1	Y	4631	N	Y4631N	Pathogenic	1	1	34	80
MUT:RYR1:Tyr4631Cys	PROT:P21817	RYR1	Y	4631	C	Y4631C	Pathogenic/Likely pathogenic	1	2	34	80
MUT:RYR1:Tyr4631Ser	PROT:P21817	RYR1	Y	4631	S	Y4631S	Pathogenic/Likely pathogenic	1	2	34	80
MUT:RYR1:Tyr4852Cys	PROT:P21817	RYR1	Y	4852	C	Y4852C	Pathogenic/Likely pathogenic	1	1	34	12
MUT:RYR1:Tyr4864Cys	PROT:P21817	RYR1	Y	4864	C	Y4864C	Pathogenic	1	1	34	0
MUT:RYR1:Tyr4864Ser	PROT:P21817	RYR1	Y	4864	S	Y4864S	Likely pathogenic	1	1	34	0
MUT:RYR1:Tyr4884His	PROT:P21817	RYR1	Y	4884	H	Y4884H	Likely pathogenic	1	1	34	17
MUT:RYR1:Tyr4913Cys	PROT:P21817	RYR1	Y	4913	C	Y4913C	Likely pathogenic	1	1	34	46
MUT:RYR1:Tyr522Cys	PROT:P21817	RYR1	Y	522	C	Y522C	Likely pathogenic	1	1	34	259
MUT:RYR1:Val1294Phe	PROT:P21817	RYR1	V	1294	F	V1294F	Likely pathogenic	1	1	34	43
MUT:RYR1:Val2117Ala	PROT:P21817	RYR1	V	2117	A	V2117A	Likely pathogenic	1	1	34	32
MUT:RYR1:Val2117Leu	PROT:P21817	RYR1	V	2117	L	V2117L	Likely pathogenic	1	3	34	32
MUT:RYR1:Val2210Phe	PROT:P21817	RYR1	V	2210	F	V2210F	Likely pathogenic	1	2	34	125
MUT:RYR1:Val2280Ile	PROT:P21817	RYR1	V	2280	I	V2280I	Likely pathogenic	1	3	34	65
MUT:RYR1:Val2354Met	PROT:P21817	RYR1	V	2354	M	V2354M	Pathogenic	1	2	34	9
MUT:RYR1:Val2627Leu	PROT:P21817	RYR1	V	2627	L	V2627L	Pathogenic	1	2	34	31
MUT:RYR1:Val4234Leu	PROT:P21817	RYR1	V	4234	L	V4234L	Pathogenic	1	3	34	22
MUT:RYR1:Val4847Leu	PROT:P21817	RYR1	V	4847	L	V4847L	Likely pathogenic	1	2	34	15
MUT:RYR1:Val4849Phe	PROT:P21817	RYR1	V	4849	F	V4849F	Likely pathogenic	1	1	34	15
MUT:RYR1:Val4927Phe	PROT:P21817	RYR1	V	4927	F	V4927F	Likely pathogenic	1	1	34	60
MUT:RYR1:Val851Met	PROT:P21817	RYR1	V	851	M	V851M	Likely benign	0	4	34	70
MUT:RYR2:Ala1136Val	PROT:Q92736	RYR2	A	1136	V	A1136V	Benign/Likely benign	0	3	19	87
MUT:RYR2:Ala2387Thr	PROT:Q92736	RYR2	A	2387	T	A2387T	Pathogenic/Likely pathogenic	1	2	19	18
MUT:RYR2:Ala2387Val	PROT:Q92736	RYR2	A	2387	V	A2387V	Pathogenic/Likely pathogenic	1	1	19	18
MUT:RYR2:Ala391Asp	PROT:Q92736	RYR2	A	391	D	A391D	Likely pathogenic	1	1	19	217
MUT:RYR2:Ala3943Asp	PROT:Q92736	RYR2	A	3943	D	A3943D	Pathogenic	1	1	19	163
MUT:RYR2:Ala4091Gly	PROT:Q92736	RYR2	A	4091	G	A4091G	Likely pathogenic	1	1	19	311
MUT:RYR2:Ala4091Val	PROT:Q92736	RYR2	A	4091	V	A4091V	Pathogenic/Likely pathogenic	1	2	19	311
MUT:RYR2:Ala4142Thr	PROT:Q92736	RYR2	A	4142	T	A4142T	Pathogenic/Likely pathogenic	1	2	19	362
MUT:RYR2:Ala4357Thr	PROT:Q92736	RYR2	A	4357	T	A4357T	Likely benign	0	3	19	202
MUT:RYR2:Ala4510Pro	PROT:Q92736	RYR2	A	4510	P	A4510P	Pathogenic/Likely pathogenic	1	1	19	49
MUT:RYR2:Ala4510Ser	PROT:Q92736	RYR2	A	4510	S	A4510S	Likely pathogenic	1	1	19	49
MUT:RYR2:Ala624Thr	PROT:Q92736	RYR2	A	624	T	A624T	Pathogenic	1	1	19	346
MUT:RYR2:Ala77Val	PROT:Q92736	RYR2	A	77	V	A77V	Pathogenic/Likely pathogenic	1	1	19	93
MUT:RYR2:Arg15Pro	PROT:Q92736	RYR2	R	15	P	R15P	Likely pathogenic	1	1	19	155
MUT:RYR2:Arg169Gln	PROT:Q92736	RYR2	R	169	Q	R169Q	Pathogenic/Likely pathogenic	1	2	19	1
MUT:RYR2:Arg176Gln	PROT:Q92736	RYR2	R	176	Q	R176Q	Pathogenic	1	2	19	2
MUT:RYR2:Arg2401His	PROT:Q92736	RYR2	R	2401	H	R2401H	Pathogenic/Likely pathogenic	1	1	19	32
MUT:RYR2:Arg2401Leu	PROT:Q92736	RYR2	R	2401	L	R2401L	Pathogenic/Likely pathogenic	1	1	19	32
MUT:RYR2:Arg2474Gly	PROT:Q92736	RYR2	R	2474	G	R2474G	Pathogenic/Likely pathogenic	1	1	19	105
MUT:RYR2:Arg2474Lys	PROT:Q92736	RYR2	R	2474	K	R2474K	Pathogenic	1	1	19	105
MUT:RYR2:Arg2474Ser	PROT:Q92736	RYR2	R	2474	S	R2474S	Pathogenic	1	1	19	105
MUT:RYR2:Arg2642Lys	PROT:Q92736	RYR2	R	2642	K	R2642K	Likely benign	0	4	19	94
MUT:RYR2:Arg3734Cys	PROT:Q92736	RYR2	R	3734	C	R3734C	Likely pathogenic	1	1	19	21
MUT:RYR2:Arg4144Leu	PROT:Q92736	RYR2	R	4144	L	R4144L	Pathogenic	1	1	19	364
MUT:RYR2:Arg4157Gln	PROT:Q92736	RYR2	R	4157	Q	R4157Q	Pathogenic/Likely pathogenic	1	1	19	377
MUT:RYR2:Arg420Gln	PROT:Q92736	RYR2	R	420	Q	R420Q	Pathogenic	1	2	19	246
MUT:RYR2:Arg420Trp	PROT:Q92736	RYR2	R	420	W	R420W	Pathogenic	1	4	19	246
MUT:RYR2:Arg4497Cys	PROT:Q92736	RYR2	R	4497	C	R4497C	Pathogenic	1	2	19	62
MUT:RYR2:Arg4959Gln	PROT:Q92736	RYR2	R	4959	Q	R4959Q	Pathogenic/Likely pathogenic	1	1	19	400
MUT:RYR2:Asn1169Ser	PROT:Q92736	RYR2	N	1169	S	N1169S	Likely benign	0	1	19	120
MUT:RYR2:Asn1773Ser	PROT:Q92736	RYR2	N	1773	S	N1773S	Likely benign	0	1	19	96
MUT:RYR2:Asn2250Ile	PROT:Q92736	RYR2	N	2250	I	N2250I	Likely pathogenic	1	1	19	119
MUT:RYR2:Asn2291Lys	PROT:Q92736	RYR2	N	2291	K	N2291K	Likely pathogenic	1	1	19	78
MUT:RYR2:Asn2386Ile	PROT:Q92736	RYR2	N	2386	I	N2386I	Pathogenic	1	1	19	17
MUT:RYR2:Asn3308Ser	PROT:Q92736	RYR2	N	3308	S	N3308S	Benign/Likely benign	0	3	19	405
MUT:RYR2:Asn3864Asp	PROT:Q92736	RYR2	N	3864	D	N3864D	Pathogenic	1	1	19	84
MUT:RYR2:Asn3989Asp	PROT:Q92736	RYR2	N	3989	D	N3989D	Pathogenic/Likely pathogenic	1	1	19	209
MUT:RYR2:Asn4104Lys	PROT:Q92736	RYR2	N	4104	K	N4104K	Pathogenic	1	2	19	324
MUT:RYR2:Asn4178Ser	PROT:Q92736	RYR2	N	4178	S	N4178S	Pathogenic/Likely pathogenic	1	1	19	381
MUT:RYR2:Asn4763Ser	PROT:Q92736	RYR2	N	4763	S	N4763S	Pathogenic/Likely pathogenic	1	2	19	204
MUT:RYR2:Asn4895His	PROT:Q92736	RYR2	N	4895	H	N4895H	Likely pathogenic	1	1	19	336
MUT:RYR2:Asp179Glu	PROT:Q92736	RYR2	D	179	E	D179E	Likely pathogenic	1	1	19	5
MUT:RYR2:Asp2216Gly	PROT:Q92736	RYR2	D	2216	G	D2216G	Likely pathogenic	1	1	19	153
MUT:RYR2:Asp2216His	PROT:Q92736	RYR2	D	2216	H	D2216H	Pathogenic	1	1	19	153
MUT:RYR2:Asp2300Glu	PROT:Q92736	RYR2	D	2300	E	D2300E	Pathogenic	1	1	19	69
MUT:RYR2:Asp2300His	PROT:Q92736	RYR2	D	2300	H	D2300H	Likely pathogenic	1	1	19	69
MUT:RYR2:Asp2735Ala	PROT:Q92736	RYR2	D	2735	A	D2735A	Likely benign	0	2	19	1
MUT:RYR2:Asp3125His	PROT:Q92736	RYR2	D	3125	H	D3125H	Likely benign	0	1	19	303
MUT:RYR2:Asp3291Val	PROT:Q92736	RYR2	D	3291	V	D3291V	Pathogenic/Likely pathogenic	1	1	19	422
MUT:RYR2:Asp3539Asn	PROT:Q92736	RYR2	D	3539	N	D3539N	Likely benign	0	2	19	174
MUT:RYR2:Asp400Ala	PROT:Q92736	RYR2	D	400	A	D400A	Pathogenic	1	1	19	226
MUT:RYR2:Asp400Asn	PROT:Q92736	RYR2	D	400	N	D400N	Pathogenic	1	1	19	226
MUT:RYR2:Asp400Gly	PROT:Q92736	RYR2	D	400	G	D400G	Likely pathogenic	1	1	19	226
MUT:RYR2:Asp4112Asn	PROT:Q92736	RYR2	D	4112	N	D4112N	Pathogenic/Likely pathogenic	1	1	19	332
MUT:RYR2:Asp4646Ala	PROT:Q92736	RYR2	D	4646	A	D4646A	Pathogenic	1	2	19	87
MUT:RYR2:Asp4646Glu	PROT:Q92736	RYR2	D	4646	E	D4646E	Likely pathogenic	1	1	19	87
MUT:RYR2:Asp4745Gly	PROT:Q92736	RYR2	D	4745	G	D4745G	Pathogenic	1	1	19	186
MUT:RYR2:Cys2201Tyr	PROT:Q92736	RYR2	C	2201	Y	C2201Y	Pathogenic	1	1	19	163
MUT:RYR2:Cys3800Arg	PROT:Q92736	RYR2	C	3800	R	C3800R	Likely pathogenic	1	1	19	20
MUT:RYR2:Cys4193Phe	PROT:Q92736	RYR2	C	4193	F	C4193F	Likely pathogenic	1	1	19	366
MUT:RYR2:Cys4193Tyr	PROT:Q92736	RYR2	C	4193	Y	C4193Y	Likely pathogenic	1	1	19	366
MUT:RYR2:Cys47Arg	PROT:Q92736	RYR2	C	47	R	C47R	Likely pathogenic	1	1	19	123
MUT:RYR2:Gln2211Pro	PROT:Q92736	RYR2	Q	2211	P	Q2211P	Pathogenic	1	1	19	158
MUT:RYR2:Gln2958Arg	PROT:Q92736	RYR2	Q	2958	R	Q2958R	Benign/Likely benign	0	3	19	136
MUT:RYR2:Gln3230Arg	PROT:Q92736	RYR2	Q	3230	R	Q3230R	Likely pathogenic	1	1	19	408
MUT:RYR2:Gln3230Lys	PROT:Q92736	RYR2	Q	3230	K	Q3230K	Likely pathogenic	1	1	19	408
MUT:RYR2:Gln3774Arg	PROT:Q92736	RYR2	Q	3774	R	Q3774R	Likely pathogenic	1	1	19	6
MUT:RYR2:Gln3861His	PROT:Q92736	RYR2	Q	3861	H	Q3861H	Likely pathogenic	1	1	19	81
MUT:RYR2:Gln3932Glu	PROT:Q92736	RYR2	Q	3932	E	Q3932E	Likely pathogenic	1	1	19	152
MUT:RYR2:Gln3955Glu	PROT:Q92736	RYR2	Q	3955	E	Q3955E	Likely pathogenic	1	1	19	175
MUT:RYR2:Gln3955His	PROT:Q92736	RYR2	Q	3955	H	Q3955H	Likely pathogenic	1	1	19	175
MUT:RYR2:Gln3955Lys	PROT:Q92736	RYR2	Q	3955	K	Q3955K	Likely pathogenic	1	1	19	175
MUT:RYR2:Gln4159His	PROT:Q92736	RYR2	Q	4159	H	Q4159H	Pathogenic	1	1	19	379
MUT:RYR2:Gln4159Lys	PROT:Q92736	RYR2	Q	4159	K	Q4159K	Pathogenic	1	1	19	379
MUT:RYR2:Gln4171Glu	PROT:Q92736	RYR2	Q	4171	E	Q4171E	Likely pathogenic	1	1	19	388
MUT:RYR2:Gln4201Arg	PROT:Q92736	RYR2	Q	4201	R	Q4201R	Pathogenic	1	1	19	358
MUT:RYR2:Gln4201His	PROT:Q92736	RYR2	Q	4201	H	Q4201H	Pathogenic	1	1	19	358
MUT:RYR2:Gln4267Arg	PROT:Q92736	RYR2	Q	4267	R	Q4267R	Likely benign	0	1	19	292
MUT:RYR2:Gln4766Pro	PROT:Q92736	RYR2	Q	4766	P	Q4766P	Likely pathogenic	1	1	19	207
MUT:RYR2:Gln746His	PROT:Q92736	RYR2	Q	746	H	Q746H	Likely pathogenic	1	1	19	224
MUT:RYR2:Glu1132Gln	PROT:Q92736	RYR2	E	1132	Q	E1132Q	Likely benign	0	1	19	83
MUT:RYR2:Glu1492Asp	PROT:Q92736	RYR2	E	1492	D	E1492D	Likely benign	0	1	19	377
MUT:RYR2:Glu1649Gln	PROT:Q92736	RYR2	E	1649	Q	E1649Q	Likely benign	0	1	19	220
MUT:RYR2:Glu1724Lys	PROT:Q92736	RYR2	E	1724	K	E1724K	Pathogenic/Likely pathogenic	1	2	19	145
MUT:RYR2:Glu189Asp	PROT:Q92736	RYR2	E	189	D	E189D	Pathogenic	1	1	19	15
MUT:RYR2:Glu2138Lys	PROT:Q92736	RYR2	E	2138	K	E2138K	Likely pathogenic	1	1	19	100
MUT:RYR2:Glu2296Lys	PROT:Q92736	RYR2	E	2296	K	E2296K	Pathogenic	1	1	19	73
MUT:RYR2:Glu2311Asp	PROT:Q92736	RYR2	E	2311	D	E2311D	Pathogenic	1	1	19	58
MUT:RYR2:Glu2314Lys	PROT:Q92736	RYR2	E	2314	K	E2314K	Likely pathogenic	1	1	19	55
MUT:RYR2:Glu2405Lys	PROT:Q92736	RYR2	E	2405	K	E2405K	Pathogenic	1	1	19	36
MUT:RYR2:Glu2959Asp	PROT:Q92736	RYR2	E	2959	D	E2959D	Benign	0	1	19	137
MUT:RYR2:Glu3815Gly	PROT:Q92736	RYR2	E	3815	G	E3815G	Likely pathogenic	1	1	19	35
MUT:RYR2:Glu3987Gln	PROT:Q92736	RYR2	E	3987	Q	E3987Q	Pathogenic	1	1	19	207
MUT:RYR2:Glu4076Lys	PROT:Q92736	RYR2	E	4076	K	E4076K	Pathogenic	1	1	19	296
MUT:RYR2:Glu4167Lys	PROT:Q92736	RYR2	E	4167	K	E4167K	Likely pathogenic	1	1	19	387
MUT:RYR2:Glu4182Ala	PROT:Q92736	RYR2	E	4182	A	E4182A	Pathogenic/Likely pathogenic	1	2	19	377
MUT:RYR2:Glu4182Gln	PROT:Q92736	RYR2	E	4182	Q	E4182Q	Likely pathogenic	1	2	19	377
MUT:RYR2:Glu80Gly	PROT:Q92736	RYR2	E	80	G	E80G	Pathogenic	1	1	19	90
MUT:RYR2:Gly172Arg	PROT:Q92736	RYR2	G	172	R	G172R	Pathogenic	1	1	19	2
MUT:RYR2:Gly172Glu	PROT:Q92736	RYR2	G	172	E	G172E	Likely pathogenic	1	1	19	2
MUT:RYR2:Gly1885Glu	PROT:Q92736	RYR2	G	1885	E	G1885E	Benign/Likely benign	0	4	19	16
MUT:RYR2:Gly1886Ala	PROT:Q92736	RYR2	G	1886	A	G1886A	Benign/Likely benign	0	1	19	17
MUT:RYR2:Gly1886Ser	PROT:Q92736	RYR2	G	1886	S	G1886S	Benign/Likely benign	0	3	19	17
MUT:RYR2:Gly226Glu	PROT:Q92736	RYR2	G	226	E	G226E	Likely pathogenic	1	1	19	52
MUT:RYR2:Gly2284Asp	PROT:Q92736	RYR2	G	2284	D	G2284D	Likely pathogenic	1	1	19	85
MUT:RYR2:Gly2337Arg	PROT:Q92736	RYR2	G	2337	R	G2337R	Likely pathogenic	1	1	19	32
MUT:RYR2:Gly2367Arg	PROT:Q92736	RYR2	G	2367	R	G2367R	Likely benign	0	2	19	2
MUT:RYR2:Gly2949Ser	PROT:Q92736	RYR2	G	2949	S	G2949S	Likely benign	0	1	19	127
MUT:RYR2:Gly357Ser	PROT:Q92736	RYR2	G	357	S	G357S	Pathogenic	1	2	19	183
MUT:RYR2:Gly357Val	PROT:Q92736	RYR2	G	357	V	G357V	Likely pathogenic	1	1	19	183
MUT:RYR2:Gly3930Arg	PROT:Q92736	RYR2	G	3930	R	G3930R	Likely pathogenic	1	1	19	150
MUT:RYR2:Gly3946Asp	PROT:Q92736	RYR2	G	3946	D	G3946D	Pathogenic	1	1	19	166
MUT:RYR2:Gly3946Ser	PROT:Q92736	RYR2	G	3946	S	G3946S	Pathogenic	1	2	19	166
MUT:RYR2:Gly4180Val	PROT:Q92736	RYR2	G	4180	V	G4180V	Likely pathogenic	1	1	19	379
MUT:RYR2:Gly4671Asp	PROT:Q92736	RYR2	G	4671	D	G4671D	Pathogenic	1	1	19	112
MUT:RYR2:Gly4772Ser	PROT:Q92736	RYR2	G	4772	S	G4772S	Likely pathogenic	1	1	19	213
MUT:RYR2:Gly4825Arg	PROT:Q92736	RYR2	G	4825	R	G4825R	Pathogenic	1	1	19	266
MUT:RYR2:Gly4864Cys	PROT:Q92736	RYR2	G	4864	C	G4864C	Pathogenic	1	2	19	305
MUT:RYR2:Gly4904Ser	PROT:Q92736	RYR2	G	4904	S	G4904S	Pathogenic	1	1	19	345
MUT:RYR2:Gly4955Glu	PROT:Q92736	RYR2	G	4955	E	G4955E	Pathogenic	1	1	19	396
MUT:RYR2:Gly605Arg	PROT:Q92736	RYR2	G	605	R	G605R	Likely pathogenic	1	1	19	365
MUT:RYR2:Gly605Val	PROT:Q92736	RYR2	G	605	V	G605V	Pathogenic	1	1	19	365
MUT:RYR2:His2217Tyr	PROT:Q92736	RYR2	H	2217	Y	H2217Y	Pathogenic	1	1	19	152
MUT:RYR2:His4108Tyr	PROT:Q92736	RYR2	H	4108	Y	H4108Y	Pathogenic	1	1	19	328
MUT:RYR2:His4558Tyr	PROT:Q92736	RYR2	H	4558	Y	H4558Y	Likely benign	0	2	19	1
MUT:RYR2:His4579Gln	PROT:Q92736	RYR2	H	4579	Q	H4579Q	Likely pathogenic	1	1	19	20
MUT:RYR2:His469Asp	PROT:Q92736	RYR2	H	469	D	H469D	Likely benign	0	1	19	295
MUT:RYR2:His4742Gln	PROT:Q92736	RYR2	H	4742	Q	H4742Q	Likely pathogenic	1	1	19	183
MUT:RYR2:His4913Tyr	PROT:Q92736	RYR2	H	4913	Y	H4913Y	Likely pathogenic	1	1	19	354
MUT:RYR2:His877Pro	PROT:Q92736	RYR2	H	877	P	H877P	Benign/Likely benign	0	6	19	93
MUT:RYR2:Ile1833Val	PROT:Q92736	RYR2	I	1833	V	I1833V	Likely benign	0	1	19	36
MUT:RYR2:Ile2325Val	PROT:Q92736	RYR2	I	2325	V	I2325V	Pathogenic	1	1	19	44
MUT:RYR2:Ile2419Ser	PROT:Q92736	RYR2	I	2419	S	I2419S	Likely pathogenic	1	1	19	50
MUT:RYR2:Ile2419Thr	PROT:Q92736	RYR2	I	2419	T	I2419T	Likely pathogenic	1	1	19	50
MUT:RYR2:Ile2576Val	PROT:Q92736	RYR2	I	2576	V	I2576V	Likely benign	0	1	19	160
MUT:RYR2:Ile3238Val	PROT:Q92736	RYR2	I	3238	V	I3238V	Likely benign	0	1	19	416
MUT:RYR2:Ile3283Asn	PROT:Q92736	RYR2	I	3283	N	I3283N	Likely pathogenic	1	1	19	430
MUT:RYR2:Ile3995Leu	PROT:Q92736	RYR2	I	3995	L	I3995L	Pathogenic	1	1	19	215
MUT:RYR2:Ile4197Leu	PROT:Q92736	RYR2	I	4197	L	I4197L	Likely pathogenic	1	1	19	362
MUT:RYR2:Ile419Phe	PROT:Q92736	RYR2	I	419	F	I419F	Pathogenic	1	1	19	245
MUT:RYR2:Ile4701Val	PROT:Q92736	RYR2	I	4701	V	I4701V	Benign/Likely benign	0	2	19	142
MUT:RYR2:Ile4862Met	PROT:Q92736	RYR2	I	4862	M	I4862M	Pathogenic	1	1	19	303
MUT:RYR2:Ile4862Thr	PROT:Q92736	RYR2	I	4862	T	I4862T	Likely pathogenic	1	1	19	303
MUT:RYR2:Ile4867Thr	PROT:Q92736	RYR2	I	4867	T	I4867T	Pathogenic/Likely pathogenic	1	1	19	308
MUT:RYR2:Ile737Val	PROT:Q92736	RYR2	I	737	V	I737V	Likely benign	0	1	19	233
MUT:RYR2:Leu1864Pro	PROT:Q92736	RYR2	L	1864	P	L1864P	Likely benign	0	1	19	5
MUT:RYR2:Leu2229Ile	PROT:Q92736	RYR2	L	2229	I	L2229I	Likely pathogenic	1	1	19	140
MUT:RYR2:Leu2229Pro	PROT:Q92736	RYR2	L	2229	P	L2229P	Likely pathogenic	1	1	19	140
MUT:RYR2:Leu2426Arg	PROT:Q92736	RYR2	L	2426	R	L2426R	Pathogenic	1	1	19	57
MUT:RYR2:Leu2527Trp	PROT:Q92736	RYR2	L	2527	W	L2527W	Pathogenic	1	1	19	158
MUT:RYR2:Leu3140Val	PROT:Q92736	RYR2	L	3140	V	L3140V	Likely benign	0	1	19	318
MUT:RYR2:Leu3935Phe	PROT:Q92736	RYR2	L	3935	F	L3935F	Likely pathogenic	1	2	19	155
MUT:RYR2:Leu4101Phe	PROT:Q92736	RYR2	L	4101	F	L4101F	Likely pathogenic	1	1	19	321
MUT:RYR2:Leu4115Phe	PROT:Q92736	RYR2	L	4115	F	L4115F	Likely pathogenic	1	1	19	335
MUT:RYR2:Leu433Pro	PROT:Q92736	RYR2	L	433	P	L433P	Pathogenic	1	3	19	259
MUT:RYR2:Leu4593Ser	PROT:Q92736	RYR2	L	4593	S	L4593S	Likely pathogenic	1	1	19	34
MUT:RYR2:Leu4966Pro	PROT:Q92736	RYR2	L	4966	P	L4966P	Pathogenic	1	1	19	407
MUT:RYR2:Leu804Phe	PROT:Q92736	RYR2	L	804	F	L804F	Likely benign	0	3	19	166
MUT:RYR2:Lys3088Arg	PROT:Q92736	RYR2	K	3088	R	K3088R	Likely benign	0	1	19	266
MUT:RYR2:Lys3187Arg	PROT:Q92736	RYR2	K	3187	R	K3187R	Benign/Likely benign	0	3	19	365
MUT:RYR2:Lys4674Glu	PROT:Q92736	RYR2	K	4674	E	K4674E	Pathogenic	1	1	19	115
MUT:RYR2:Lys4751Glu	PROT:Q92736	RYR2	K	4751	E	K4751E	Pathogenic	1	1	19	192
MUT:RYR2:Lys4751Met	PROT:Q92736	RYR2	K	4751	M	K4751M	Likely pathogenic	1	1	19	192
MUT:RYR2:Met309Thr	PROT:Q92736	RYR2	M	309	T	M309T	Likely benign	0	2	19	135
MUT:RYR2:Met3461Val	PROT:Q92736	RYR2	M	3461	V	M3461V	Benign/Likely benign	0	3	19	252
MUT:RYR2:Met3972Val	PROT:Q92736	RYR2	M	3972	V	M3972V	Likely pathogenic	1	1	19	192
MUT:RYR2:Met3978Ile	PROT:Q92736	RYR2	M	3978	I	M3978I	Pathogenic/Likely pathogenic	1	1	19	198
MUT:RYR2:Met3999Thr	PROT:Q92736	RYR2	M	3999	T	M3999T	Likely pathogenic	1	1	19	219
MUT:RYR2:Met4002Ile	PROT:Q92736	RYR2	M	4002	I	M4002I	Likely pathogenic	1	1	19	222
MUT:RYR2:Met4923Ile	PROT:Q92736	RYR2	M	4923	I	M4923I	Likely pathogenic	1	1	19	364
MUT:RYR2:Phe4087Leu	PROT:Q92736	RYR2	F	4087	L	F4087L	Likely pathogenic	1	1	19	307
MUT:RYR2:Phe4174Ser	PROT:Q92736	RYR2	F	4174	S	F4174S	Pathogenic	1	1	19	385
MUT:RYR2:Phe4174Tyr	PROT:Q92736	RYR2	F	4174	Y	F4174Y	Pathogenic	1	1	19	385
MUT:RYR2:Phe4600Ile	PROT:Q92736	RYR2	F	4600	I	F4600I	Likely pathogenic	1	1	19	41
MUT:RYR2:Phe4600Leu	PROT:Q92736	RYR2	F	4600	L	F4600L	Pathogenic	1	1	19	41
MUT:RYR2:Phe4612Leu	PROT:Q92736	RYR2	F	4612	L	F4612L	Pathogenic	1	1	19	53
MUT:RYR2:Pro164Ser	PROT:Q92736	RYR2	P	164	S	P164S	Pathogenic	1	1	19	6
MUT:RYR2:Pro2328Ala	PROT:Q92736	RYR2	P	2328	A	P2328A	Pathogenic	1	1	19	41
MUT:RYR2:Pro2328Ser	PROT:Q92736	RYR2	P	2328	S	P2328S	Pathogenic	1	1	19	41
MUT:RYR2:Pro4090Ala	PROT:Q92736	RYR2	P	4090	A	P4090A	Likely pathogenic	1	1	19	310
MUT:RYR2:Pro4090Leu	PROT:Q92736	RYR2	P	4090	L	P4090L	Pathogenic	1	1	19	310
MUT:RYR2:Pro4090Ser	PROT:Q92736	RYR2	P	4090	S	P4090S	Likely pathogenic	1	1	19	310
MUT:RYR2:Ser1400Gly	PROT:Q92736	RYR2	S	1400	G	S1400G	Benign/Likely benign	0	3	19	351
MUT:RYR2:Ser1402Tyr	PROT:Q92736	RYR2	S	1402	Y	S1402Y	Likely benign	0	1	19	353
MUT:RYR2:Ser2016Thr	PROT:Q92736	RYR2	S	2016	T	S2016T	Likely benign	0	2	19	15
MUT:RYR2:Ser2246Leu	PROT:Q92736	RYR2	S	2246	L	S2246L	Pathogenic	1	2	19	123
MUT:RYR2:Ser2369Asn	PROT:Q92736	RYR2	S	2369	N	S2369N	Likely benign	0	1	19	0
MUT:RYR2:Ser285Ile	PROT:Q92736	RYR2	S	285	I	S285I	Likely pathogenic	1	1	19	111
MUT:RYR2:Ser4006Phe	PROT:Q92736	RYR2	S	4006	F	S4006F	Pathogenic	1	1	19	226
MUT:RYR2:Ser4124Arg	PROT:Q92736	RYR2	S	4124	R	S4124R	Pathogenic	1	1	19	344
MUT:RYR2:Ser4153Arg	PROT:Q92736	RYR2	S	4153	R	S4153R	Likely pathogenic	1	1	19	373
MUT:RYR2:Ser4155Tyr	PROT:Q92736	RYR2	S	4155	Y	S4155Y	Pathogenic	1	1	19	375
MUT:RYR2:Ser616Leu	PROT:Q92736	RYR2	S	616	L	S616L	Likely pathogenic	1	1	19	354
MUT:RYR2:Thr2390Ile	PROT:Q92736	RYR2	T	2390	I	T2390I	Likely pathogenic	1	1	19	21
MUT:RYR2:Thr3860Ile	PROT:Q92736	RYR2	T	3860	I	T3860I	Likely pathogenic	1	1	19	80
MUT:RYR2:Thr3874Ile	PROT:Q92736	RYR2	T	3874	I	T3874I	Likely pathogenic	1	1	19	94
MUT:RYR2:Thr415Ala	PROT:Q92736	RYR2	T	415	A	T415A	Likely benign	0	2	19	241
MUT:RYR2:Thr415Ile	PROT:Q92736	RYR2	T	415	I	T415I	Likely pathogenic	1	1	19	241
MUT:RYR2:Thr415Lys	PROT:Q92736	RYR2	T	415	K	T415K	Likely pathogenic	1	1	19	241
MUT:RYR2:Thr4196Ile	PROT:Q92736	RYR2	T	4196	I	T4196I	Likely pathogenic	1	2	19	363
MUT:RYR2:Thr4770Ala	PROT:Q92736	RYR2	T	4770	A	T4770A	Likely pathogenic	1	1	19	211
MUT:RYR2:Thr4770Ile	PROT:Q92736	RYR2	T	4770	I	T4770I	Pathogenic	1	1	19	211
MUT:RYR2:Trp4949Arg	PROT:Q92736	RYR2	W	4949	R	W4949R	Likely pathogenic	1	1	19	390
MUT:RYR2:Tyr115Cys	PROT:Q92736	RYR2	Y	115	C	Y115C	Pathogenic/Likely pathogenic	1	1	19	55
MUT:RYR2:Tyr2298Cys	PROT:Q92736	RYR2	Y	2298	C	Y2298C	Likely pathogenic	1	1	19	71
MUT:RYR2:Tyr2392Cys	PROT:Q92736	RYR2	Y	2392	C	Y2392C	Pathogenic	1	1	19	23
MUT:RYR2:Tyr2392Phe	PROT:Q92736	RYR2	Y	2392	F	Y2392F	Likely pathogenic	1	1	19	23
MUT:RYR2:Tyr4149Cys	PROT:Q92736	RYR2	Y	4149	C	Y4149C	Pathogenic/Likely pathogenic	1	1	19	369
MUT:RYR2:Tyr4725Cys	PROT:Q92736	RYR2	Y	4725	C	Y4725C	Pathogenic/Likely pathogenic	1	2	19	166
MUT:RYR2:Tyr4962Cys	PROT:Q92736	RYR2	Y	4962	C	Y4962C	Pathogenic/Likely pathogenic	1	1	19	403
MUT:RYR2:Val1096Ala	PROT:Q92736	RYR2	V	1096	A	V1096A	Likely benign	0	1	19	47
MUT:RYR2:Val1465Ile	PROT:Q92736	RYR2	V	1465	I	V1465I	Likely benign	0	1	19	404
MUT:RYR2:Val1579Glu	PROT:Q92736	RYR2	V	1579	E	V1579E	Likely benign	0	1	19	290
MUT:RYR2:Val2306Ile	PROT:Q92736	RYR2	V	2306	I	V2306I	Pathogenic/Likely pathogenic	1	1	19	63
MUT:RYR2:Val2306Phe	PROT:Q92736	RYR2	V	2306	F	V2306F	Likely pathogenic	1	1	19	63
MUT:RYR2:Val2475Ala	PROT:Q92736	RYR2	V	2475	A	V2475A	Likely pathogenic	1	1	19	106
MUT:RYR2:Val3711Met	PROT:Q92736	RYR2	V	3711	M	V3711M	Likely benign	0	1	19	2
MUT:RYR2:Val379Met	PROT:Q92736	RYR2	V	379	M	V379M	Likely benign	0	3	19	205
MUT:RYR2:Val3875Ala	PROT:Q92736	RYR2	V	3875	A	V3875A	Likely pathogenic	1	1	19	95
MUT:RYR2:Val3875Ile	PROT:Q92736	RYR2	V	3875	I	V3875I	Pathogenic/Likely pathogenic	1	1	19	95
MUT:RYR2:Val3875Leu	PROT:Q92736	RYR2	V	3875	L	V3875L	Likely pathogenic	1	2	19	95
MUT:RYR2:Val4190Met	PROT:Q92736	RYR2	V	4190	M	V4190M	Pathogenic	1	1	19	369
MUT:RYR2:Val4581Ile	PROT:Q92736	RYR2	V	4581	I	V4581I	Likely benign	0	1	19	22
MUT:RYR2:Val4653Phe	PROT:Q92736	RYR2	V	4653	F	V4653F	Pathogenic	1	1	19	94
MUT:RYR2:Val4771Ile	PROT:Q92736	RYR2	V	4771	I	V4771I	Pathogenic	1	1	19	212
MUT:RYR2:Val4771Phe	PROT:Q92736	RYR2	V	4771	F	V4771F	Likely pathogenic	1	1	19	212
MUT:RYR2:Val4880Ala	PROT:Q92736	RYR2	V	4880	A	V4880A	Likely pathogenic	1	1	19	321
MUT:RYR2:Val4880Ile	PROT:Q92736	RYR2	V	4880	I	V4880I	Pathogenic	1	1	19	321
MUT:RYR2:Val507Ile	PROT:Q92736	RYR2	V	507	I	V507I	Benign/Likely benign	0	3	19	333
MUT:S1PR2:Arg108Pro	PROT:O95136	S1PR2	R	108	P	R108P	Pathogenic	1	1	2	34
MUT:S1PR2:Arg307Trp	PROT:O95136	S1PR2	R	307	W	R307W	Likely benign	0	1	2	163
MUT:S1PR2:Tyr140Cys	PROT:O95136	S1PR2	Y	140	C	Y140C	Pathogenic	1	1	2	2
MUT:SACS:Ala1373Glu	PROT:Q9NZJ4	SACS	A	1373	E	A1373E	Likely pathogenic	1	1	52	31
MUT:SACS:Ala1373Leu	PROT:Q9NZJ4	SACS	A	1373	L	A1373L	Benign/Likely benign	0	1	52	31
MUT:SACS:Ala1373Ser	PROT:Q9NZJ4	SACS	A	1373	S	A1373S	Likely pathogenic	1	1	52	31
MUT:SACS:Ala162Thr	PROT:Q9NZJ4	SACS	A	162	T	A162T	Benign	0	1	52	47
MUT:SACS:Ala1735Thr	PROT:Q9NZJ4	SACS	A	1735	T	A1735T	Likely benign	0	1	52	20
MUT:SACS:Ala1932Thr	PROT:Q9NZJ4	SACS	A	1932	T	A1932T	Likely benign	0	1	52	57
MUT:SACS:Ala2154Thr	PROT:Q9NZJ4	SACS	A	2154	T	A2154T	Likely benign	0	1	52	111
MUT:SACS:Ala2167Val	PROT:Q9NZJ4	SACS	A	2167	V	A2167V	Likely benign	0	1	52	124
MUT:SACS:Ala2318Val	PROT:Q9NZJ4	SACS	A	2318	V	A2318V	Likely benign	0	1	52	40
MUT:SACS:Ala2735Thr	PROT:Q9NZJ4	SACS	A	2735	T	A2735T	Benign	0	1	52	26
MUT:SACS:Ala2735Val	PROT:Q9NZJ4	SACS	A	2735	V	A2735V	Benign	0	1	52	26
MUT:SACS:Ala2758Thr	PROT:Q9NZJ4	SACS	A	2758	T	A2758T	Likely benign	0	1	52	49
MUT:SACS:Ala2782Ile	PROT:Q9NZJ4	SACS	A	2782	I	A2782I	Benign	0	1	52	73
MUT:SACS:Ala2782Thr	PROT:Q9NZJ4	SACS	A	2782	T	A2782T	Benign/Likely benign	0	3	52	73
MUT:SACS:Ala2782Val	PROT:Q9NZJ4	SACS	A	2782	V	A2782V	Benign/Likely benign	0	3	52	73
MUT:SACS:Ala2998Pro	PROT:Q9NZJ4	SACS	A	2998	P	A2998P	Likely benign	0	1	52	51
MUT:SACS:Ala3086Val	PROT:Q9NZJ4	SACS	A	3086	V	A3086V	Likely benign	0	1	52	37
MUT:SACS:Ala3507Gly	PROT:Q9NZJ4	SACS	A	3507	G	A3507G	Likely benign	0	1	52	6
MUT:SACS:Ala3611Val	PROT:Q9NZJ4	SACS	A	3611	V	A3611V	Likely benign	0	1	52	97
MUT:SACS:Ala3659Pro	PROT:Q9NZJ4	SACS	A	3659	P	A3659P	Likely benign	0	1	52	145
MUT:SACS:Ala3661Thr	PROT:Q9NZJ4	SACS	A	3661	T	A3661T	Likely benign	0	1	52	147
MUT:SACS:Ala4029Gly	PROT:Q9NZJ4	SACS	A	4029	G	A4029G	Likely benign	0	1	52	111
MUT:SACS:Ala4074Pro	PROT:Q9NZJ4	SACS	A	4074	P	A4074P	Pathogenic	1	1	52	156
MUT:SACS:Ala4424Pro	PROT:Q9NZJ4	SACS	A	4424	P	A4424P	Likely benign	0	1	52	5
MUT:SACS:Ala4460Gly	PROT:Q9NZJ4	SACS	A	4460	G	A4460G	Likely benign	0	1	52	21
MUT:SACS:Ala4469Pro	PROT:Q9NZJ4	SACS	A	4469	P	A4469P	Likely pathogenic	1	1	52	30
MUT:SACS:Ala610Thr	PROT:Q9NZJ4	SACS	A	610	T	A610T	Likely benign	0	1	52	15
MUT:SACS:Ala610Val	PROT:Q9NZJ4	SACS	A	610	V	A610V	Benign	0	1	52	15
MUT:SACS:Ala694Thr	PROT:Q9NZJ4	SACS	A	694	T	A694T	Benign	0	3	52	20
MUT:SACS:Ala724Ser	PROT:Q9NZJ4	SACS	A	724	S	A724S	Likely benign	0	1	52	2
MUT:SACS:Ala973Gly	PROT:Q9NZJ4	SACS	A	973	G	A973G	Likely benign	0	1	52	9
MUT:SACS:Arg105Lys	PROT:Q9NZJ4	SACS	R	105	K	R105K	Likely benign	0	1	52	10
MUT:SACS:Arg1271Lys	PROT:Q9NZJ4	SACS	R	1271	K	R1271K	Likely benign	0	1	52	3
MUT:SACS:Arg1575Pro	PROT:Q9NZJ4	SACS	R	1575	P	R1575P	Pathogenic	1	1	52	110
MUT:SACS:Arg1645Gln	PROT:Q9NZJ4	SACS	R	1645	Q	R1645Q	Likely pathogenic	1	2	52	70
MUT:SACS:Arg1645Pro	PROT:Q9NZJ4	SACS	R	1645	P	R1645P	Likely pathogenic	1	1	52	70
MUT:SACS:Arg179Gly	PROT:Q9NZJ4	SACS	R	179	G	R179G	Likely benign	0	1	52	59
MUT:SACS:Arg1992Lys	PROT:Q9NZJ4	SACS	R	1992	K	R1992K	Likely benign	0	2	52	3
MUT:SACS:Arg2130Thr	PROT:Q9NZJ4	SACS	R	2130	T	R2130T	Benign	0	1	52	87
MUT:SACS:Arg2202Lys	PROT:Q9NZJ4	SACS	R	2202	K	R2202K	Benign	0	1	52	156
MUT:SACS:Arg2392Lys	PROT:Q9NZJ4	SACS	R	2392	K	R2392K	Likely benign	0	1	52	34
MUT:SACS:Arg2425Gln	PROT:Q9NZJ4	SACS	R	2425	Q	R2425Q	Likely benign	0	1	52	67
MUT:SACS:Arg2425Pro	PROT:Q9NZJ4	SACS	R	2425	P	R2425P	Pathogenic	1	1	52	67
MUT:SACS:Arg2665His	PROT:Q9NZJ4	SACS	R	2665	H	R2665H	Likely benign	0	1	52	44
MUT:SACS:Arg2703Cys	PROT:Q9NZJ4	SACS	R	2703	C	R2703C	Pathogenic/Likely pathogenic	1	2	52	6
MUT:SACS:Arg272Cys	PROT:Q9NZJ4	SACS	R	272	C	R272C	Pathogenic/Likely pathogenic	1	3	52	34
MUT:SACS:Arg272His	PROT:Q9NZJ4	SACS	R	272	H	R272H	Pathogenic/Likely pathogenic	1	2	52	34
MUT:SACS:Arg276Cys	PROT:Q9NZJ4	SACS	R	276	C	R276C	Pathogenic/Likely pathogenic	1	2	52	38
MUT:SACS:Arg3048Cys	PROT:Q9NZJ4	SACS	R	3048	C	R3048C	Likely benign	0	1	52	1
MUT:SACS:Arg3057Lys	PROT:Q9NZJ4	SACS	R	3057	K	R3057K	Likely benign	0	1	52	8
MUT:SACS:Arg3170Gln	PROT:Q9NZJ4	SACS	R	3170	Q	R3170Q	Likely benign	0	1	52	7
MUT:SACS:Arg345Gln	PROT:Q9NZJ4	SACS	R	345	Q	R345Q	Likely benign	0	1	52	7
MUT:SACS:Arg3658Trp	PROT:Q9NZJ4	SACS	R	3658	W	R3658W	Likely benign	0	1	52	144
MUT:SACS:Arg3753Lys	PROT:Q9NZJ4	SACS	R	3753	K	R3753K	Likely benign	0	1	52	165
MUT:SACS:Arg3792Gln	PROT:Q9NZJ4	SACS	R	3792	Q	R3792Q	Benign	0	1	52	126
MUT:SACS:Arg3859Leu	PROT:Q9NZJ4	SACS	R	3859	L	R3859L	Likely benign	0	1	52	59
MUT:SACS:Arg3972Gln	PROT:Q9NZJ4	SACS	R	3972	Q	R3972Q	Likely benign	0	1	52	54
MUT:SACS:Arg4078Gly	PROT:Q9NZJ4	SACS	R	4078	G	R4078G	Likely benign	0	1	52	160
MUT:SACS:Arg4078Pro	PROT:Q9NZJ4	SACS	R	4078	P	R4078P	Likely benign	0	1	52	160
MUT:SACS:Arg4325Gln	PROT:Q9NZJ4	SACS	R	4325	Q	R4325Q	Likely benign	0	1	52	8
MUT:SACS:Arg4331Gln	PROT:Q9NZJ4	SACS	R	4331	Q	R4331Q	Likely pathogenic	1	1	52	2
MUT:SACS:Arg4378Gln	PROT:Q9NZJ4	SACS	R	4378	Q	R4378Q	Benign	0	1	52	14
MUT:SACS:Arg4386Gln	PROT:Q9NZJ4	SACS	R	4386	Q	R4386Q	Likely benign	0	1	52	22
MUT:SACS:Arg4448His	PROT:Q9NZJ4	SACS	R	4448	H	R4448H	Likely benign	0	1	52	9
MUT:SACS:Arg50Gln	PROT:Q9NZJ4	SACS	R	50	Q	R50Q	Likely benign	0	1	52	65
MUT:SACS:Arg515His	PROT:Q9NZJ4	SACS	R	515	H	R515H	Benign	0	1	52	1
MUT:SACS:Arg745Ser	PROT:Q9NZJ4	SACS	R	745	S	R745S	Likely benign	0	1	52	23
MUT:SACS:Arg929Leu	PROT:Q9NZJ4	SACS	R	929	L	R929L	Likely benign	0	1	52	1
MUT:SACS:Asn1306Ser	PROT:Q9NZJ4	SACS	N	1306	S	N1306S	Benign/Likely benign	0	2	52	32
MUT:SACS:Asn1489Asp	PROT:Q9NZJ4	SACS	N	1489	D	N1489D	Likely benign	0	1	52	24
MUT:SACS:Asn1489His	PROT:Q9NZJ4	SACS	N	1489	H	N1489H	Likely benign	0	1	52	24
MUT:SACS:Asn1489Ser	PROT:Q9NZJ4	SACS	N	1489	S	N1489S	Benign/Likely benign	0	4	52	24
MUT:SACS:Asn1603Asp	PROT:Q9NZJ4	SACS	N	1603	D	N1603D	Likely benign	0	1	52	112
MUT:SACS:Asn1725Asp	PROT:Q9NZJ4	SACS	N	1725	D	N1725D	Likely benign	0	1	52	10
MUT:SACS:Asn1725Lys	PROT:Q9NZJ4	SACS	N	1725	K	N1725K	Likely benign	0	1	52	10
MUT:SACS:Asn2141Ser	PROT:Q9NZJ4	SACS	N	2141	S	N2141S	Likely benign	0	1	52	98
MUT:SACS:Asn232Lys	PROT:Q9NZJ4	SACS	N	232	K	N232K	Benign/Likely benign	0	3	52	6
MUT:SACS:Asn2642Ser	PROT:Q9NZJ4	SACS	N	2642	S	N2642S	Likely benign	0	1	52	67
MUT:SACS:Asn2983Ser	PROT:Q9NZJ4	SACS	N	2983	S	N2983S	Likely benign	0	2	52	66
MUT:SACS:Asn3021Lys	PROT:Q9NZJ4	SACS	N	3021	K	N3021K	Likely benign	0	1	52	28
MUT:SACS:Asn3068Ser	PROT:Q9NZJ4	SACS	N	3068	S	N3068S	Likely benign	0	2	52	19
MUT:SACS:Asn3190Ser	PROT:Q9NZJ4	SACS	N	3190	S	N3190S	Likely benign	0	1	52	13
MUT:SACS:Asn3237Ser	PROT:Q9NZJ4	SACS	N	3237	S	N3237S	Likely benign	0	1	52	60
MUT:SACS:Asn347Asp	PROT:Q9NZJ4	SACS	N	347	D	N347D	Likely benign	0	1	52	9
MUT:SACS:Asn358Ser	PROT:Q9NZJ4	SACS	N	358	S	N358S	Likely benign	0	1	52	3
MUT:SACS:Asn396Asp	PROT:Q9NZJ4	SACS	N	396	D	N396D	Likely benign	0	1	52	10
MUT:SACS:Asn4025Lys	PROT:Q9NZJ4	SACS	N	4025	K	N4025K	Benign	0	2	52	107
MUT:SACS:Asn4112Ser	PROT:Q9NZJ4	SACS	N	4112	S	N4112S	Likely benign	0	1	52	145
MUT:SACS:Asn4127Asp	PROT:Q9NZJ4	SACS	N	4127	D	N4127D	Likely benign	0	1	52	130
MUT:SACS:Asn4127Ser	PROT:Q9NZJ4	SACS	N	4127	S	N4127S	Likely benign	0	1	52	130
MUT:SACS:Asn4349Ser	PROT:Q9NZJ4	SACS	N	4349	S	N4349S	Likely benign	0	1	52	15
MUT:SACS:Asn559Asp	PROT:Q9NZJ4	SACS	N	559	D	N559D	Likely benign	0	1	52	26
MUT:SACS:Asn592Ser	PROT:Q9NZJ4	SACS	N	592	S	N592S	Benign	0	1	52	33
MUT:SACS:Asn675Tyr	PROT:Q9NZJ4	SACS	N	675	Y	N675Y	Likely benign	0	2	52	39
MUT:SACS:Asn772Thr	PROT:Q9NZJ4	SACS	N	772	T	N772T	Likely benign	0	1	52	50
MUT:SACS:Asn890Ser	PROT:Q9NZJ4	SACS	N	890	S	N890S	Likely benign	0	1	52	15
MUT:SACS:Asn979Ser	PROT:Q9NZJ4	SACS	N	979	S	N979S	Benign	0	1	52	3
MUT:SACS:Asp1102Asn	PROT:Q9NZJ4	SACS	D	1102	N	D1102N	Likely benign	0	1	52	7
MUT:SACS:Asp1185Gly	PROT:Q9NZJ4	SACS	D	1185	G	D1185G	Likely benign	0	1	52	76
MUT:SACS:Asp1551Gly	PROT:Q9NZJ4	SACS	D	1551	G	D1551G	Likely benign	0	1	52	86
MUT:SACS:Asp1582Asn	PROT:Q9NZJ4	SACS	D	1582	N	D1582N	Pathogenic/Likely pathogenic	1	3	52	117
MUT:SACS:Asp1582His	PROT:Q9NZJ4	SACS	D	1582	H	D1582H	Likely pathogenic	1	2	52	117
MUT:SACS:Asp1582Tyr	PROT:Q9NZJ4	SACS	D	1582	Y	D1582Y	Likely pathogenic	1	1	52	117
MUT:SACS:Asp1786Asn	PROT:Q9NZJ4	SACS	D	1786	N	D1786N	Likely benign	0	2	52	7
MUT:SACS:Asp1786Gly	PROT:Q9NZJ4	SACS	D	1786	G	D1786G	Likely benign	0	1	52	7
MUT:SACS:Asp1930Asn	PROT:Q9NZJ4	SACS	D	1930	N	D1930N	Likely benign	0	1	52	59
MUT:SACS:Asp1955Gly	PROT:Q9NZJ4	SACS	D	1955	G	D1955G	Likely benign	0	1	52	34
MUT:SACS:Asp1955Tyr	PROT:Q9NZJ4	SACS	D	1955	Y	D1955Y	Likely benign	0	1	52	34
MUT:SACS:Asp1966Asn	PROT:Q9NZJ4	SACS	D	1966	N	D1966N	Likely benign	0	1	52	23
MUT:SACS:Asp2086Gly	PROT:Q9NZJ4	SACS	D	2086	G	D2086G	Likely benign	0	1	52	43
MUT:SACS:Asp2086Val	PROT:Q9NZJ4	SACS	D	2086	V	D2086V	Likely benign	0	1	52	43
MUT:SACS:Asp2138Val	PROT:Q9NZJ4	SACS	D	2138	V	D2138V	Likely benign	0	1	52	95
MUT:SACS:Asp2228Tyr	PROT:Q9NZJ4	SACS	D	2228	Y	D2228Y	Likely benign	0	1	52	130
MUT:SACS:Asp2306His	PROT:Q9NZJ4	SACS	D	2306	H	D2306H	Likely benign	0	1	52	52
MUT:SACS:Asp2339Gly	PROT:Q9NZJ4	SACS	D	2339	G	D2339G	Likely benign	0	1	52	19
MUT:SACS:Asp2683Tyr	PROT:Q9NZJ4	SACS	D	2683	Y	D2683Y	Likely benign	0	1	52	26
MUT:SACS:Asp2753Gly	PROT:Q9NZJ4	SACS	D	2753	G	D2753G	Likely benign	0	1	52	44
MUT:SACS:Asp2753Val	PROT:Q9NZJ4	SACS	D	2753	V	D2753V	Likely benign	0	1	52	44
MUT:SACS:Asp3137Gly	PROT:Q9NZJ4	SACS	D	3137	G	D3137G	Likely benign	0	1	52	40
MUT:SACS:Asp3236Glu	PROT:Q9NZJ4	SACS	D	3236	E	D3236E	Likely benign	0	1	52	59
MUT:SACS:Asp4214Asn	PROT:Q9NZJ4	SACS	D	4214	N	D4214N	Likely benign	0	1	52	43
MUT:SACS:Asp4228Asn	PROT:Q9NZJ4	SACS	D	4228	N	D4228N	Likely benign	0	1	52	29
MUT:SACS:Asp4339Glu	PROT:Q9NZJ4	SACS	D	4339	E	D4339E	Pathogenic	1	1	52	6
MUT:SACS:Asp4464Val	PROT:Q9NZJ4	SACS	D	4464	V	D4464V	Likely pathogenic	1	1	52	25
MUT:SACS:Asp4540Asn	PROT:Q9NZJ4	SACS	D	4540	N	D4540N	Likely benign	0	1	52	101
MUT:SACS:Asp568Asn	PROT:Q9NZJ4	SACS	D	568	N	D568N	Likely benign	0	1	52	35
MUT:SACS:Asp711Gly	PROT:Q9NZJ4	SACS	D	711	G	D711G	Likely benign	0	1	52	3
MUT:SACS:Asp842His	PROT:Q9NZJ4	SACS	D	842	H	D842H	Likely benign	0	1	52	12
MUT:SACS:Asp901Val	PROT:Q9NZJ4	SACS	D	901	V	D901V	Likely benign	0	1	52	4
MUT:SACS:Asp912Asn	PROT:Q9NZJ4	SACS	D	912	N	D912N	Likely benign	0	1	52	7
MUT:SACS:Cys1066Phe	PROT:Q9NZJ4	SACS	C	1066	F	C1066F	Likely benign	0	1	52	43
MUT:SACS:Cys1815Arg	PROT:Q9NZJ4	SACS	C	1815	R	C1815R	Likely benign	0	1	52	18
MUT:SACS:Cys2395Trp	PROT:Q9NZJ4	SACS	C	2395	W	C2395W	Likely benign	0	1	52	37
MUT:SACS:Cys2562Trp	PROT:Q9NZJ4	SACS	C	2562	W	C2562W	Likely benign	0	1	52	51
MUT:SACS:Cys3231Tyr	PROT:Q9NZJ4	SACS	C	3231	Y	C3231Y	Likely benign	0	1	52	54
MUT:SACS:Cys567Trp	PROT:Q9NZJ4	SACS	C	567	W	C567W	Likely benign	0	1	52	34
MUT:SACS:Cys991Arg	PROT:Q9NZJ4	SACS	C	991	R	C991R	Likely pathogenic	1	1	52	2
MUT:SACS:Gln1859Arg	PROT:Q9NZJ4	SACS	Q	1859	R	Q1859R	Benign	0	1	52	62
MUT:SACS:Gln2055Arg	PROT:Q9NZJ4	SACS	Q	2055	R	Q2055R	Likely benign	0	1	52	12
MUT:SACS:Gln2055Lys	PROT:Q9NZJ4	SACS	Q	2055	K	Q2055K	Likely benign	0	1	52	12
MUT:SACS:Gln219Lys	PROT:Q9NZJ4	SACS	Q	219	K	Q219K	Likely benign	0	1	52	19
MUT:SACS:Gln2393Arg	PROT:Q9NZJ4	SACS	Q	2393	R	Q2393R	Likely benign	0	1	52	35
MUT:SACS:Gln3032His	PROT:Q9NZJ4	SACS	Q	3032	H	Q3032H	Likely benign	0	1	52	17
MUT:SACS:Gln3036Arg	PROT:Q9NZJ4	SACS	Q	3036	R	Q3036R	Likely benign	0	1	52	13
MUT:SACS:Gln314Arg	PROT:Q9NZJ4	SACS	Q	314	R	Q314R	Likely benign	0	1	52	24
MUT:SACS:Gln3634Leu	PROT:Q9NZJ4	SACS	Q	3634	L	Q3634L	Benign	0	1	52	120
MUT:SACS:Gln3732Glu	PROT:Q9NZJ4	SACS	Q	3732	E	Q3732E	Benign	0	1	52	186
MUT:SACS:Gln4226Leu	PROT:Q9NZJ4	SACS	Q	4226	L	Q4226L	Benign	0	1	52	31
MUT:SACS:Gln4413Arg	PROT:Q9NZJ4	SACS	Q	4413	R	Q4413R	Likely benign	0	1	52	6
MUT:SACS:Gln726Lys	PROT:Q9NZJ4	SACS	Q	726	K	Q726K	Benign	0	1	52	4
MUT:SACS:Gln845Arg	PROT:Q9NZJ4	SACS	Q	845	R	Q845R	Likely benign	0	1	52	9
MUT:SACS:Gln886His	PROT:Q9NZJ4	SACS	Q	886	H	Q886H	Likely benign	0	1	52	19
MUT:SACS:Glu1243Asp	PROT:Q9NZJ4	SACS	E	1243	D	E1243D	Likely benign	0	1	52	31
MUT:SACS:Glu1397Lys	PROT:Q9NZJ4	SACS	E	1397	K	E1397K	Likely benign	0	1	52	38
MUT:SACS:Glu1452Lys	PROT:Q9NZJ4	SACS	E	1452	K	E1452K	Likely benign	0	1	52	13
MUT:SACS:Glu1507Gln	PROT:Q9NZJ4	SACS	E	1507	Q	E1507Q	Benign	0	1	52	42
MUT:SACS:Glu1702Lys	PROT:Q9NZJ4	SACS	E	1702	K	E1702K	Likely benign	0	1	52	13
MUT:SACS:Glu2048Gly	PROT:Q9NZJ4	SACS	E	2048	G	E2048G	Likely benign	0	1	52	5
MUT:SACS:Glu2059Val	PROT:Q9NZJ4	SACS	E	2059	V	E2059V	Likely benign	0	1	52	16
MUT:SACS:Glu2357Gly	PROT:Q9NZJ4	SACS	E	2357	G	E2357G	Likely benign	0	1	52	1
MUT:SACS:Glu2442Gly	PROT:Q9NZJ4	SACS	E	2442	G	E2442G	Benign	0	1	52	53
MUT:SACS:Glu2830Asp	PROT:Q9NZJ4	SACS	E	2830	D	E2830D	Likely benign	0	1	52	121
MUT:SACS:Glu2876Ala	PROT:Q9NZJ4	SACS	E	2876	A	E2876A	Likely benign	0	1	52	167
MUT:SACS:Glu3263Gly	PROT:Q9NZJ4	SACS	E	3263	G	E3263G	Likely benign	0	2	52	86
MUT:SACS:Glu3356Asp	PROT:Q9NZJ4	SACS	E	3356	D	E3356D	Likely benign	0	1	52	79
MUT:SACS:Glu3486Asp	PROT:Q9NZJ4	SACS	E	3486	D	E3486D	Likely benign	0	1	52	9
MUT:SACS:Glu3522Asp	PROT:Q9NZJ4	SACS	E	3522	D	E3522D	Likely benign	0	1	52	8
MUT:SACS:Glu3606Asp	PROT:Q9NZJ4	SACS	E	3606	D	E3606D	Likely benign	0	1	52	92
MUT:SACS:Glu36Gly	PROT:Q9NZJ4	SACS	E	36	G	E36G	Likely benign	0	1	52	79
MUT:SACS:Glu3865Gln	PROT:Q9NZJ4	SACS	E	3865	Q	E3865Q	Likely benign	0	1	52	53
MUT:SACS:Glu4009Gln	PROT:Q9NZJ4	SACS	E	4009	Q	E4009Q	Likely benign	0	1	52	91
MUT:SACS:Glu4411Asp	PROT:Q9NZJ4	SACS	E	4411	D	E4411D	Likely benign	0	1	52	8
MUT:SACS:Glu809Gln	PROT:Q9NZJ4	SACS	E	809	Q	E809Q	Likely benign	0	1	52	45
MUT:SACS:Glu917Val	PROT:Q9NZJ4	SACS	E	917	V	E917V	Likely benign	0	1	52	11
MUT:SACS:Gly1116Val	PROT:Q9NZJ4	SACS	G	1116	V	G1116V	Likely benign	0	1	52	7
MUT:SACS:Gly1190Ala	PROT:Q9NZJ4	SACS	G	1190	A	G1190A	Likely benign	0	1	52	81
MUT:SACS:Gly125Ala	PROT:Q9NZJ4	SACS	G	125	A	G125A	Likely benign	0	1	52	10
MUT:SACS:Gly1266Glu	PROT:Q9NZJ4	SACS	G	1266	E	G1266E	Likely benign	0	1	52	8
MUT:SACS:Gly1680Arg	PROT:Q9NZJ4	SACS	G	1680	R	G1680R	Likely benign	0	1	52	35
MUT:SACS:Gly188Arg	PROT:Q9NZJ4	SACS	G	188	R	G188R	Pathogenic/Likely pathogenic	1	1	52	50
MUT:SACS:Gly188Glu	PROT:Q9NZJ4	SACS	G	188	E	G188E	Likely pathogenic	1	1	52	50
MUT:SACS:Gly1982Arg	PROT:Q9NZJ4	SACS	G	1982	R	G1982R	Likely benign	0	1	52	7
MUT:SACS:Gly2449Asp	PROT:Q9NZJ4	SACS	G	2449	D	G2449D	Likely benign	0	1	52	46
MUT:SACS:Gly2664Val	PROT:Q9NZJ4	SACS	G	2664	V	G2664V	Likely pathogenic	1	1	52	45
MUT:SACS:Gly2813Arg	PROT:Q9NZJ4	SACS	G	2813	R	G2813R	Likely benign	0	1	52	104
MUT:SACS:Gly3721Asp	PROT:Q9NZJ4	SACS	G	3721	D	G3721D	Likely benign	0	1	52	197
MUT:SACS:Gly402Arg	PROT:Q9NZJ4	SACS	G	402	R	G402R	Likely benign	0	1	52	4
MUT:SACS:Gly65Arg	PROT:Q9NZJ4	SACS	G	65	R	G65R	Likely benign	0	1	52	50
MUT:SACS:Gly65Glu	PROT:Q9NZJ4	SACS	G	65	E	G65E	Likely benign	0	1	52	50
MUT:SACS:Gly811Asp	PROT:Q9NZJ4	SACS	G	811	D	G811D	Likely benign	0	1	52	43
MUT:SACS:His1006Gln	PROT:Q9NZJ4	SACS	H	1006	Q	H1006Q	Likely benign	0	1	52	17
MUT:SACS:His1191Tyr	PROT:Q9NZJ4	SACS	H	1191	Y	H1191Y	Likely benign	0	1	52	82
MUT:SACS:His1206Arg	PROT:Q9NZJ4	SACS	H	1206	R	H1206R	Benign	0	1	52	68
MUT:SACS:His1206Tyr	PROT:Q9NZJ4	SACS	H	1206	Y	H1206Y	Likely benign	0	1	52	68
MUT:SACS:His1260Asp	PROT:Q9NZJ4	SACS	H	1260	D	H1260D	Likely benign	0	1	52	14
MUT:SACS:His1260Tyr	PROT:Q9NZJ4	SACS	H	1260	Y	H1260Y	Likely benign	0	1	52	14
MUT:SACS:His1331Asn	PROT:Q9NZJ4	SACS	H	1331	N	H1331N	Likely benign	0	1	52	11
MUT:SACS:His1357Asn	PROT:Q9NZJ4	SACS	H	1357	N	H1357N	Likely benign	0	1	52	15
MUT:SACS:His1396Asn	PROT:Q9NZJ4	SACS	H	1396	N	H1396N	Likely benign	0	1	52	39
MUT:SACS:His2266Asn	PROT:Q9NZJ4	SACS	H	2266	N	H2266N	Likely benign	0	1	52	92
MUT:SACS:His2324Asn	PROT:Q9NZJ4	SACS	H	2324	N	H2324N	Likely benign	0	1	52	34
MUT:SACS:His2503Gln	PROT:Q9NZJ4	SACS	H	2503	Q	H2503Q	Likely benign	0	1	52	6
MUT:SACS:His2950Pro	PROT:Q9NZJ4	SACS	H	2950	P	H2950P	Likely benign	0	1	52	99
MUT:SACS:His3081Tyr	PROT:Q9NZJ4	SACS	H	3081	Y	H3081Y	Likely benign	0	1	52	32
MUT:SACS:His3130Arg	PROT:Q9NZJ4	SACS	H	3130	R	H3130R	Likely benign	0	1	52	47
MUT:SACS:His3480Tyr	PROT:Q9NZJ4	SACS	H	3480	Y	H3480Y	Benign	0	2	52	3
MUT:SACS:His3575Arg	PROT:Q9NZJ4	SACS	H	3575	R	H3575R	Likely benign	0	1	52	61
MUT:SACS:His3841Arg	PROT:Q9NZJ4	SACS	H	3841	R	H3841R	Likely benign	0	1	52	77
MUT:SACS:His4090Asn	PROT:Q9NZJ4	SACS	H	4090	N	H4090N	Pathogenic	1	1	52	167
MUT:SACS:His4292Pro	PROT:Q9NZJ4	SACS	H	4292	P	H4292P	Likely benign	0	1	52	10
MUT:SACS:His4337Asp	PROT:Q9NZJ4	SACS	H	4337	D	H4337D	Likely pathogenic	1	1	52	4
MUT:SACS:His4466Arg	PROT:Q9NZJ4	SACS	H	4466	R	H4466R	Benign	0	1	52	27
MUT:SACS:His716Tyr	PROT:Q9NZJ4	SACS	H	716	Y	H716Y	Benign/Likely benign	0	4	52	2
MUT:SACS:His899Asn	PROT:Q9NZJ4	SACS	H	899	N	H899N	Likely benign	0	1	52	6
MUT:SACS:His951Asn	PROT:Q9NZJ4	SACS	H	951	N	H951N	Likely benign	0	1	52	4
MUT:SACS:His951Asp	PROT:Q9NZJ4	SACS	H	951	D	H951D	Likely benign	0	1	52	4
MUT:SACS:His952Tyr	PROT:Q9NZJ4	SACS	H	952	Y	H952Y	Likely benign	0	1	52	3
MUT:SACS:Ile1083Thr	PROT:Q9NZJ4	SACS	I	1083	T	I1083T	Likely benign	0	1	52	26
MUT:SACS:Ile1193Val	PROT:Q9NZJ4	SACS	I	1193	V	I1193V	Likely benign	0	1	52	81
MUT:SACS:Ile1195Val	PROT:Q9NZJ4	SACS	I	1195	V	I1195V	Likely benign	0	1	52	79
MUT:SACS:Ile1324Val	PROT:Q9NZJ4	SACS	I	1324	V	I1324V	Likely benign	0	1	52	18
MUT:SACS:Ile1497Met	PROT:Q9NZJ4	SACS	I	1497	M	I1497M	Likely benign	0	1	52	32
MUT:SACS:Ile1497Val	PROT:Q9NZJ4	SACS	I	1497	V	I1497V	Likely benign	0	1	52	32
MUT:SACS:Ile1571Phe	PROT:Q9NZJ4	SACS	I	1571	F	I1571F	Likely benign	0	1	52	106
MUT:SACS:Ile1622Val	PROT:Q9NZJ4	SACS	I	1622	V	I1622V	Likely benign	0	1	52	93
MUT:SACS:Ile1867Val	PROT:Q9NZJ4	SACS	I	1867	V	I1867V	Likely benign	0	1	52	70
MUT:SACS:Ile2045Leu	PROT:Q9NZJ4	SACS	I	2045	L	I2045L	Likely benign	0	1	52	2
MUT:SACS:Ile2213Val	PROT:Q9NZJ4	SACS	I	2213	V	I2213V	Likely benign	0	1	52	145
MUT:SACS:Ile2337Val	PROT:Q9NZJ4	SACS	I	2337	V	I2337V	Benign	0	1	52	21
MUT:SACS:Ile2407Met	PROT:Q9NZJ4	SACS	I	2407	M	I2407M	Likely benign	0	1	52	49
MUT:SACS:Ile240Leu	PROT:Q9NZJ4	SACS	I	240	L	I240L	Likely benign	0	1	52	2
MUT:SACS:Ile2451Leu	PROT:Q9NZJ4	SACS	I	2451	L	I2451L	Likely benign	0	1	52	44
MUT:SACS:Ile2451Thr	PROT:Q9NZJ4	SACS	I	2451	T	I2451T	Likely benign	0	1	52	44
MUT:SACS:Ile2451Val	PROT:Q9NZJ4	SACS	I	2451	V	I2451V	Likely benign	0	1	52	44
MUT:SACS:Ile262Val	PROT:Q9NZJ4	SACS	I	262	V	I262V	Likely benign	0	1	52	24
MUT:SACS:Ile2752Leu	PROT:Q9NZJ4	SACS	I	2752	L	I2752L	Likely benign	0	1	52	43
MUT:SACS:Ile2837Met	PROT:Q9NZJ4	SACS	I	2837	M	I2837M	Likely benign	0	1	52	128
MUT:SACS:Ile2837Val	PROT:Q9NZJ4	SACS	I	2837	V	I2837V	Likely benign	0	1	52	128
MUT:SACS:Ile3045Val	PROT:Q9NZJ4	SACS	I	3045	V	I3045V	Likely benign	0	1	52	4
MUT:SACS:Ile3098Ser	PROT:Q9NZJ4	SACS	I	3098	S	I3098S	Likely benign	0	1	52	49
MUT:SACS:Ile3148Thr	PROT:Q9NZJ4	SACS	I	3148	T	I3148T	Likely benign	0	1	52	29
MUT:SACS:Ile3309Met	PROT:Q9NZJ4	SACS	I	3309	M	I3309M	Likely benign	0	1	52	126
MUT:SACS:Ile3309Val	PROT:Q9NZJ4	SACS	I	3309	V	I3309V	Likely benign	0	1	52	126
MUT:SACS:Ile3361Val	PROT:Q9NZJ4	SACS	I	3361	V	I3361V	Likely benign	0	2	52	74
MUT:SACS:Ile3436Met	PROT:Q9NZJ4	SACS	I	3436	M	I3436M	Likely benign	0	1	52	1
MUT:SACS:Ile3466Met	PROT:Q9NZJ4	SACS	I	3466	M	I3466M	Likely benign	0	1	52	11
MUT:SACS:Ile3498Met	PROT:Q9NZJ4	SACS	I	3498	M	I3498M	Likely benign	0	1	52	3
MUT:SACS:Ile349Val	PROT:Q9NZJ4	SACS	I	349	V	I349V	Likely benign	0	1	52	11
MUT:SACS:Ile3716Val	PROT:Q9NZJ4	SACS	I	3716	V	I3716V	Likely benign	0	1	52	202
MUT:SACS:Ile3749Val	PROT:Q9NZJ4	SACS	I	3749	V	I3749V	Likely benign	0	1	52	169
MUT:SACS:Ile3755Thr	PROT:Q9NZJ4	SACS	I	3755	T	I3755T	Likely benign	0	2	52	163
MUT:SACS:Ile3758Val	PROT:Q9NZJ4	SACS	I	3758	V	I3758V	Likely benign	0	1	52	160
MUT:SACS:Ile377Val	PROT:Q9NZJ4	SACS	I	377	V	I377V	Likely benign	0	1	52	16
MUT:SACS:Ile3860Val	PROT:Q9NZJ4	SACS	I	3860	V	I3860V	Benign	0	1	52	58
MUT:SACS:Ile4035Val	PROT:Q9NZJ4	SACS	I	4035	V	I4035V	Likely benign	0	1	52	117
MUT:SACS:Ile4065Val	PROT:Q9NZJ4	SACS	I	4065	V	I4065V	Likely benign	0	1	52	147
MUT:SACS:Ile4193Val	PROT:Q9NZJ4	SACS	I	4193	V	I4193V	Likely benign	0	1	52	64
MUT:SACS:Ile4229Thr	PROT:Q9NZJ4	SACS	I	4229	T	I4229T	Likely benign	0	1	52	28
MUT:SACS:Ile422Val	PROT:Q9NZJ4	SACS	I	422	V	I422V	Likely benign	0	1	52	12
MUT:SACS:Ile4306Val	PROT:Q9NZJ4	SACS	I	4306	V	I4306V	Likely benign	0	1	52	4
MUT:SACS:Ile4347Leu	PROT:Q9NZJ4	SACS	I	4347	L	I4347L	Likely benign	0	1	52	14
MUT:SACS:Ile531Thr	PROT:Q9NZJ4	SACS	I	531	T	I531T	Likely benign	0	1	52	2
MUT:SACS:Ile565Val	PROT:Q9NZJ4	SACS	I	565	V	I565V	Likely benign	0	1	52	32
MUT:SACS:Ile709Val	PROT:Q9NZJ4	SACS	I	709	V	I709V	Likely benign	0	1	52	5
MUT:SACS:Ile920Thr	PROT:Q9NZJ4	SACS	I	920	T	I920T	Likely benign	0	1	52	8
MUT:SACS:Ile938Val	PROT:Q9NZJ4	SACS	I	938	V	I938V	Likely benign	0	1	52	5
MUT:SACS:Ile964Val	PROT:Q9NZJ4	SACS	I	964	V	I964V	Likely benign	0	1	52	9
MUT:SACS:Ile967Thr	PROT:Q9NZJ4	SACS	I	967	T	I967T	Likely benign	0	1	52	12
MUT:SACS:Ile975Val	PROT:Q9NZJ4	SACS	I	975	V	I975V	Likely benign	0	1	52	7
MUT:SACS:Ile983Val	PROT:Q9NZJ4	SACS	I	983	V	I983V	Likely benign	0	1	52	1
MUT:SACS:Leu1131Val	PROT:Q9NZJ4	SACS	L	1131	V	L1131V	Likely benign	0	1	52	22
MUT:SACS:Leu1132Phe	PROT:Q9NZJ4	SACS	L	1132	F	L1132F	Likely benign	0	1	52	23
MUT:SACS:Leu1631Phe	PROT:Q9NZJ4	SACS	L	1631	F	L1631F	Likely benign	0	1	52	84
MUT:SACS:Leu1678His	PROT:Q9NZJ4	SACS	L	1678	H	L1678H	Likely benign	0	1	52	37
MUT:SACS:Leu1792Phe	PROT:Q9NZJ4	SACS	L	1792	F	L1792F	Likely benign	0	1	52	5
MUT:SACS:Leu185Arg	PROT:Q9NZJ4	SACS	L	185	R	L185R	Likely benign	0	1	52	53
MUT:SACS:Leu2016Val	PROT:Q9NZJ4	SACS	L	2016	V	L2016V	Likely benign	0	1	52	19
MUT:SACS:Leu2047Pro	PROT:Q9NZJ4	SACS	L	2047	P	L2047P	Benign	0	1	52	4
MUT:SACS:Leu2076Val	PROT:Q9NZJ4	SACS	L	2076	V	L2076V	Likely benign	0	1	52	33
MUT:SACS:Leu2402Val	PROT:Q9NZJ4	SACS	L	2402	V	L2402V	Likely benign	0	1	52	44
MUT:SACS:Leu2435Pro	PROT:Q9NZJ4	SACS	L	2435	P	L2435P	Likely benign	0	2	52	60
MUT:SACS:Leu2692Met	PROT:Q9NZJ4	SACS	L	2692	M	L2692M	Likely benign	0	1	52	17
MUT:SACS:Leu308Phe	PROT:Q9NZJ4	SACS	L	308	F	L308F	Pathogenic	1	1	52	30
MUT:SACS:Leu3135Ser	PROT:Q9NZJ4	SACS	L	3135	S	L3135S	Pathogenic/Likely pathogenic	1	3	52	42
MUT:SACS:Leu3159Pro	PROT:Q9NZJ4	SACS	L	3159	P	L3159P	Likely benign	0	1	52	18
MUT:SACS:Leu3304Phe	PROT:Q9NZJ4	SACS	L	3304	F	L3304F	Likely benign	0	1	52	127
MUT:SACS:Leu3365Val	PROT:Q9NZJ4	SACS	L	3365	V	L3365V	Likely benign	0	1	52	70
MUT:SACS:Leu3398Phe	PROT:Q9NZJ4	SACS	L	3398	F	L3398F	Likely benign	0	1	52	37
MUT:SACS:Leu3500Phe	PROT:Q9NZJ4	SACS	L	3500	F	L3500F	Likely benign	0	1	52	1
MUT:SACS:Leu3600Phe	PROT:Q9NZJ4	SACS	L	3600	F	L3600F	Likely benign	0	1	52	86
MUT:SACS:Leu3648Pro	PROT:Q9NZJ4	SACS	L	3648	P	L3648P	Likely pathogenic	1	1	52	134
MUT:SACS:Leu3780Pro	PROT:Q9NZJ4	SACS	L	3780	P	L3780P	Likely pathogenic	1	1	52	138
MUT:SACS:Leu3791Met	PROT:Q9NZJ4	SACS	L	3791	M	L3791M	Likely benign	0	1	52	127
MUT:SACS:Leu3830Ile	PROT:Q9NZJ4	SACS	L	3830	I	L3830I	Likely benign	0	1	52	88
MUT:SACS:Leu4005Pro	PROT:Q9NZJ4	SACS	L	4005	P	L4005P	Pathogenic	1	1	52	87
MUT:SACS:Leu4451Pro	PROT:Q9NZJ4	SACS	L	4451	P	L4451P	Likely pathogenic	1	2	52	12
MUT:SACS:Leu516Val	PROT:Q9NZJ4	SACS	L	516	V	L516V	Benign	0	1	52	2
MUT:SACS:Leu534Val	PROT:Q9NZJ4	SACS	L	534	V	L534V	Likely benign	0	1	52	1
MUT:SACS:Leu556Pro	PROT:Q9NZJ4	SACS	L	556	P	L556P	Likely pathogenic	1	1	52	23
MUT:SACS:Leu717Phe	PROT:Q9NZJ4	SACS	L	717	F	L717F	Likely benign	0	1	52	3
MUT:SACS:Leu786Ile	PROT:Q9NZJ4	SACS	L	786	I	L786I	Likely benign	0	1	52	64
MUT:SACS:Leu855Phe	PROT:Q9NZJ4	SACS	L	855	F	L855F	Likely benign	0	1	52	1
MUT:SACS:Leu872Ser	PROT:Q9NZJ4	SACS	L	872	S	L872S	Likely benign	0	1	52	7
MUT:SACS:Lys1155Thr	PROT:Q9NZJ4	SACS	K	1155	T	K1155T	Likely benign	0	1	52	46
MUT:SACS:Lys1283Asn	PROT:Q9NZJ4	SACS	K	1283	N	K1283N	Likely benign	0	1	52	9
MUT:SACS:Lys1342Arg	PROT:Q9NZJ4	SACS	K	1342	R	K1342R	Likely benign	0	1	52	0
MUT:SACS:Lys1385Arg	PROT:Q9NZJ4	SACS	K	1385	R	K1385R	Likely benign	0	1	52	43
MUT:SACS:Lys1595Arg	PROT:Q9NZJ4	SACS	K	1595	R	K1595R	Likely benign	0	1	52	120
MUT:SACS:Lys1747Gln	PROT:Q9NZJ4	SACS	K	1747	Q	K1747Q	Likely benign	0	1	52	32
MUT:SACS:Lys1755Glu	PROT:Q9NZJ4	SACS	K	1755	E	K1755E	Likely benign	0	1	52	24
MUT:SACS:Lys1879Arg	PROT:Q9NZJ4	SACS	K	1879	R	K1879R	Likely benign	0	1	52	82
MUT:SACS:Lys2000Arg	PROT:Q9NZJ4	SACS	K	2000	R	K2000R	Likely benign	0	1	52	3
MUT:SACS:Lys2195Asn	PROT:Q9NZJ4	SACS	K	2195	N	K2195N	Likely benign	0	1	52	152
MUT:SACS:Lys2287Arg	PROT:Q9NZJ4	SACS	K	2287	R	K2287R	Likely benign	0	1	52	71
MUT:SACS:Lys2298Gln	PROT:Q9NZJ4	SACS	K	2298	Q	K2298Q	Benign	0	1	52	60
MUT:SACS:Lys2477Asn	PROT:Q9NZJ4	SACS	K	2477	N	K2477N	Benign	0	1	52	18
MUT:SACS:Lys2709Asn	PROT:Q9NZJ4	SACS	K	2709	N	K2709N	Benign/Likely benign	0	1	52	0
MUT:SACS:Lys2958Arg	PROT:Q9NZJ4	SACS	K	2958	R	K2958R	Benign	0	3	52	91
MUT:SACS:Lys3204Glu	PROT:Q9NZJ4	SACS	K	3204	E	K3204E	Likely benign	0	1	52	27
MUT:SACS:Lys3207Glu	PROT:Q9NZJ4	SACS	K	3207	E	K3207E	Likely benign	0	1	52	30
MUT:SACS:Lys3276Asn	PROT:Q9NZJ4	SACS	K	3276	N	K3276N	Likely benign	0	1	52	99
MUT:SACS:Lys3378Arg	PROT:Q9NZJ4	SACS	K	3378	R	K3378R	Likely benign	0	1	52	57
MUT:SACS:Lys3443Glu	PROT:Q9NZJ4	SACS	K	3443	E	K3443E	Likely benign	0	1	52	8
MUT:SACS:Lys3520Glu	PROT:Q9NZJ4	SACS	K	3520	E	K3520E	Likely benign	0	1	52	6
MUT:SACS:Lys3535Asn	PROT:Q9NZJ4	SACS	K	3535	N	K3535N	Likely benign	0	1	52	21
MUT:SACS:Lys362Arg	PROT:Q9NZJ4	SACS	K	362	R	K362R	Likely benign	0	1	52	1
MUT:SACS:Lys3840Arg	PROT:Q9NZJ4	SACS	K	3840	R	K3840R	Likely benign	0	1	52	78
MUT:SACS:Lys4326Glu	PROT:Q9NZJ4	SACS	K	4326	E	K4326E	Likely pathogenic	1	1	52	7
MUT:SACS:Lys4409Arg	PROT:Q9NZJ4	SACS	K	4409	R	K4409R	Likely benign	0	1	52	10
MUT:SACS:Lys520Asn	PROT:Q9NZJ4	SACS	K	520	N	K520N	Likely benign	0	1	52	6
MUT:SACS:Lys533Glu	PROT:Q9NZJ4	SACS	K	533	E	K533E	Likely benign	0	1	52	0
MUT:SACS:Lys542Thr	PROT:Q9NZJ4	SACS	K	542	T	K542T	Likely benign	0	1	52	9
MUT:SACS:Lys943Thr	PROT:Q9NZJ4	SACS	K	943	T	K943T	Likely benign	0	1	52	0
MUT:SACS:Met1149Arg	PROT:Q9NZJ4	SACS	M	1149	R	M1149R	Likely benign	0	1	52	40
MUT:SACS:Met1311Lys	PROT:Q9NZJ4	SACS	M	1311	K	M1311K	Likely pathogenic	1	1	52	31
MUT:SACS:Met148Val	PROT:Q9NZJ4	SACS	M	148	V	M148V	Likely benign	0	1	52	33
MUT:SACS:Met1499Leu	PROT:Q9NZJ4	SACS	M	1499	L	M1499L	Likely benign	0	1	52	34
MUT:SACS:Met1503Val	PROT:Q9NZJ4	SACS	M	1503	V	M1503V	Likely benign	0	1	52	38
MUT:SACS:Met1573Arg	PROT:Q9NZJ4	SACS	M	1573	R	M1573R	Pathogenic	1	1	52	108
MUT:SACS:Met1Thr	PROT:Q9NZJ4	SACS	M	1	T	M1T	Likely pathogenic	1	1	52	114
MUT:SACS:Met1Val	PROT:Q9NZJ4	SACS	M	1	V	M1V	Likely pathogenic	1	1	52	114
MUT:SACS:Met2335Thr	PROT:Q9NZJ4	SACS	M	2335	T	M2335T	Likely benign	0	1	52	23
MUT:SACS:Met2335Val	PROT:Q9NZJ4	SACS	M	2335	V	M2335V	Benign	0	1	52	23
MUT:SACS:Met2459Arg	PROT:Q9NZJ4	SACS	M	2459	R	M2459R	Likely benign	0	1	52	36
MUT:SACS:Met2697Val	PROT:Q9NZJ4	SACS	M	2697	V	M2697V	Likely benign	0	1	52	12
MUT:SACS:Met2806Thr	PROT:Q9NZJ4	SACS	M	2806	T	M2806T	Benign	0	1	52	97
MUT:SACS:Met2914Val	PROT:Q9NZJ4	SACS	M	2914	V	M2914V	Likely benign	0	1	52	135
MUT:SACS:Met3551Val	PROT:Q9NZJ4	SACS	M	3551	V	M3551V	Likely benign	0	1	52	37
MUT:SACS:Met3798Leu	PROT:Q9NZJ4	SACS	M	3798	L	M3798L	Likely benign	0	1	52	120
MUT:SACS:Met4019Val	PROT:Q9NZJ4	SACS	M	4019	V	M4019V	Likely benign	0	1	52	101
MUT:SACS:Met4558Ile	PROT:Q9NZJ4	SACS	M	4558	I	M4558I	Likely benign	0	1	52	119
MUT:SACS:Met4558Val	PROT:Q9NZJ4	SACS	M	4558	V	M4558V	Likely benign	0	1	52	119
MUT:SACS:Met4575Ile	PROT:Q9NZJ4	SACS	M	4575	I	M4575I	Likely benign	0	1	52	136
MUT:SACS:Met4575Leu	PROT:Q9NZJ4	SACS	M	4575	L	M4575L	Likely benign	0	1	52	136
MUT:SACS:Met883Ile	PROT:Q9NZJ4	SACS	M	883	I	M883I	Likely benign	0	1	52	18
MUT:SACS:Phe1054Ser	PROT:Q9NZJ4	SACS	F	1054	S	F1054S	Pathogenic	1	1	52	55
MUT:SACS:Phe1535Leu	PROT:Q9NZJ4	SACS	F	1535	L	F1535L	Likely benign	0	1	52	70
MUT:SACS:Phe2563Val	PROT:Q9NZJ4	SACS	F	2563	V	F2563V	Likely benign	0	1	52	52
MUT:SACS:Phe3129Ser	PROT:Q9NZJ4	SACS	F	3129	S	F3129S	Likely benign	0	1	52	48
MUT:SACS:Phe3286Leu	PROT:Q9NZJ4	SACS	F	3286	L	F3286L	Likely benign	0	1	52	109
MUT:SACS:Phe4387Tyr	PROT:Q9NZJ4	SACS	F	4387	Y	F4387Y	Likely benign	0	1	52	23
MUT:SACS:Phe553Leu	PROT:Q9NZJ4	SACS	F	553	L	F553L	Likely benign	0	1	52	20
MUT:SACS:Phe577Leu	PROT:Q9NZJ4	SACS	F	577	L	F577L	Likely benign	0	1	52	44
MUT:SACS:Phe708Tyr	PROT:Q9NZJ4	SACS	F	708	Y	F708Y	Likely benign	0	1	52	6
MUT:SACS:Phe850Leu	PROT:Q9NZJ4	SACS	F	850	L	F850L	Likely benign	0	1	52	4
MUT:SACS:Pro1028Ala	PROT:Q9NZJ4	SACS	P	1028	A	P1028A	Benign	0	1	52	39
MUT:SACS:Pro1028Leu	PROT:Q9NZJ4	SACS	P	1028	L	P1028L	Likely benign	0	1	52	39
MUT:SACS:Pro1028Ser	PROT:Q9NZJ4	SACS	P	1028	S	P1028S	Likely benign	0	1	52	39
MUT:SACS:Pro1075Leu	PROT:Q9NZJ4	SACS	P	1075	L	P1075L	Likely benign	0	1	52	34
MUT:SACS:Pro10Ser	PROT:Q9NZJ4	SACS	P	10	S	P10S	Benign	0	1	52	105
MUT:SACS:Pro1158Ser	PROT:Q9NZJ4	SACS	P	1158	S	P1158S	Likely benign	0	1	52	49
MUT:SACS:Pro1183Leu	PROT:Q9NZJ4	SACS	P	1183	L	P1183L	Benign	0	1	52	74
MUT:SACS:Pro1184Arg	PROT:Q9NZJ4	SACS	P	1184	R	P1184R	Likely benign	0	2	52	75
MUT:SACS:Pro1184Ser	PROT:Q9NZJ4	SACS	P	1184	S	P1184S	Likely benign	0	2	52	75
MUT:SACS:Pro1184Thr	PROT:Q9NZJ4	SACS	P	1184	T	P1184T	Likely benign	0	1	52	75
MUT:SACS:Pro1219Ser	PROT:Q9NZJ4	SACS	P	1219	S	P1219S	Likely benign	0	1	52	55
MUT:SACS:Pro1727Ser	PROT:Q9NZJ4	SACS	P	1727	S	P1727S	Likely benign	0	1	52	12
MUT:SACS:Pro2217Gln	PROT:Q9NZJ4	SACS	P	2217	Q	P2217Q	Pathogenic/Likely pathogenic	1	2	52	141
MUT:SACS:Pro2369Leu	PROT:Q9NZJ4	SACS	P	2369	L	P2369L	Pathogenic	1	1	52	11
MUT:SACS:Pro2462Ser	PROT:Q9NZJ4	SACS	P	2462	S	P2462S	Benign/Likely benign	0	2	52	33
MUT:SACS:Pro274Leu	PROT:Q9NZJ4	SACS	P	274	L	P274L	Likely pathogenic	1	1	52	36
MUT:SACS:Pro2935Leu	PROT:Q9NZJ4	SACS	P	2935	L	P2935L	Likely benign	0	1	52	114
MUT:SACS:Pro2939Leu	PROT:Q9NZJ4	SACS	P	2939	L	P2939L	Likely benign	0	1	52	110
MUT:SACS:Pro3025Ser	PROT:Q9NZJ4	SACS	P	3025	S	P3025S	Likely benign	0	1	52	24
MUT:SACS:Pro3089Leu	PROT:Q9NZJ4	SACS	P	3089	L	P3089L	Likely pathogenic	1	1	52	40
MUT:SACS:Pro3223Leu	PROT:Q9NZJ4	SACS	P	3223	L	P3223L	Likely benign	0	1	52	46
MUT:SACS:Pro3313Leu	PROT:Q9NZJ4	SACS	P	3313	L	P3313L	Likely benign	0	1	52	122
MUT:SACS:Pro3358Ala	PROT:Q9NZJ4	SACS	P	3358	A	P3358A	Likely benign	0	1	52	77
MUT:SACS:Pro3411Ala	PROT:Q9NZJ4	SACS	P	3411	A	P3411A	Likely benign	0	1	52	24
MUT:SACS:Pro346Leu	PROT:Q9NZJ4	SACS	P	346	L	P346L	Likely benign	0	1	52	8
MUT:SACS:Pro3572Ser	PROT:Q9NZJ4	SACS	P	3572	S	P3572S	Likely benign	0	1	52	58
MUT:SACS:Pro3656Thr	PROT:Q9NZJ4	SACS	P	3656	T	P3656T	Likely benign	0	1	52	142
MUT:SACS:Pro3678Ala	PROT:Q9NZJ4	SACS	P	3678	A	P3678A	Benign/Likely benign	0	3	52	164
MUT:SACS:Pro3823Thr	PROT:Q9NZJ4	SACS	P	3823	T	P3823T	Likely pathogenic	1	1	52	95
MUT:SACS:Pro4064Ser	PROT:Q9NZJ4	SACS	P	4064	S	P4064S	Likely benign	0	1	52	146
MUT:SACS:Pro4156Ser	PROT:Q9NZJ4	SACS	P	4156	S	P4156S	Likely benign	0	1	52	101
MUT:SACS:Pro4178Gln	PROT:Q9NZJ4	SACS	P	4178	Q	P4178Q	Likely benign	0	1	52	79
MUT:SACS:Pro4259Ala	PROT:Q9NZJ4	SACS	P	4259	A	P4259A	Likely benign	0	1	52	2
MUT:SACS:Pro4278Leu	PROT:Q9NZJ4	SACS	P	4278	L	P4278L	Likely benign	0	1	52	12
MUT:SACS:Pro4295His	PROT:Q9NZJ4	SACS	P	4295	H	P4295H	Likely benign	0	1	52	7
MUT:SACS:Pro4295Leu	PROT:Q9NZJ4	SACS	P	4295	L	P4295L	Likely benign	0	2	52	7
MUT:SACS:Pro4342Ser	PROT:Q9NZJ4	SACS	P	4342	S	P4342S	Likely benign	0	1	52	9
MUT:SACS:Pro4435Leu	PROT:Q9NZJ4	SACS	P	4435	L	P4435L	Likely benign	0	1	52	4
MUT:SACS:Pro536Leu	PROT:Q9NZJ4	SACS	P	536	L	P536L	Pathogenic/Likely pathogenic	1	2	52	3
MUT:SACS:Pro605Leu	PROT:Q9NZJ4	SACS	P	605	L	P605L	Likely pathogenic	1	1	52	20
MUT:SACS:Pro837Ser	PROT:Q9NZJ4	SACS	P	837	S	P837S	Likely benign	0	2	52	17
MUT:SACS:Ser1197Pro	PROT:Q9NZJ4	SACS	S	1197	P	S1197P	Likely pathogenic	1	1	52	77
MUT:SACS:Ser1368Ile	PROT:Q9NZJ4	SACS	S	1368	I	S1368I	Pathogenic	1	1	52	26
MUT:SACS:Ser1415Phe	PROT:Q9NZJ4	SACS	S	1415	F	S1415F	Likely benign	0	1	52	20
MUT:SACS:Ser1528Cys	PROT:Q9NZJ4	SACS	S	1528	C	S1528C	Likely benign	0	1	52	63
MUT:SACS:Ser1531Leu	PROT:Q9NZJ4	SACS	S	1531	L	S1531L	Likely benign	0	1	52	66
MUT:SACS:Ser1661Asn	PROT:Q9NZJ4	SACS	S	1661	N	S1661N	Likely benign	0	1	52	54
MUT:SACS:Ser1837Asn	PROT:Q9NZJ4	SACS	S	1837	N	S1837N	Likely benign	0	1	52	40
MUT:SACS:Ser1997Thr	PROT:Q9NZJ4	SACS	S	1997	T	S1997T	Likely benign	0	1	52	0
MUT:SACS:Ser2031Phe	PROT:Q9NZJ4	SACS	S	2031	F	S2031F	Likely benign	0	1	52	12
MUT:SACS:Ser2303Thr	PROT:Q9NZJ4	SACS	S	2303	T	S2303T	Likely benign	0	1	52	55
MUT:SACS:Ser2406Tyr	PROT:Q9NZJ4	SACS	S	2406	Y	S2406Y	Likely benign	0	1	52	48
MUT:SACS:Ser256Gly	PROT:Q9NZJ4	SACS	S	256	G	S256G	Likely benign	0	1	52	18
MUT:SACS:Ser2640Pro	PROT:Q9NZJ4	SACS	S	2640	P	S2640P	Likely pathogenic	1	1	52	69
MUT:SACS:Ser2828Gly	PROT:Q9NZJ4	SACS	S	2828	G	S2828G	Likely benign	0	2	52	119
MUT:SACS:Ser2937Thr	PROT:Q9NZJ4	SACS	S	2937	T	S2937T	Likely benign	0	1	52	112
MUT:SACS:Ser3100Tyr	PROT:Q9NZJ4	SACS	S	3100	Y	S3100Y	Benign/Likely benign	0	3	52	51
MUT:SACS:Ser3213Gly	PROT:Q9NZJ4	SACS	S	3213	G	S3213G	Likely benign	0	1	52	36
MUT:SACS:Ser3775Gly	PROT:Q9NZJ4	SACS	S	3775	G	S3775G	Likely benign	0	1	52	143
MUT:SACS:Ser397Gly	PROT:Q9NZJ4	SACS	S	397	G	S397G	Likely benign	0	1	52	9
MUT:SACS:Ser3997Phe	PROT:Q9NZJ4	SACS	S	3997	F	S3997F	Likely benign	0	1	52	79
MUT:SACS:Ser4138Asn	PROT:Q9NZJ4	SACS	S	4138	N	S4138N	Likely benign	0	1	52	119
MUT:SACS:Ser4146Leu	PROT:Q9NZJ4	SACS	S	4146	L	S4146L	Likely benign	0	1	52	111
MUT:SACS:Ser4260Cys	PROT:Q9NZJ4	SACS	S	4260	C	S4260C	Likely benign	0	1	52	1
MUT:SACS:Ser4260Pro	PROT:Q9NZJ4	SACS	S	4260	P	S4260P	Benign	0	1	52	1
MUT:SACS:Ser4533Gly	PROT:Q9NZJ4	SACS	S	4533	G	S4533G	Likely benign	0	1	52	94
MUT:SACS:Ser457Gly	PROT:Q9NZJ4	SACS	S	457	G	S457G	Likely benign	0	1	52	23
MUT:SACS:Ser465Gly	PROT:Q9NZJ4	SACS	S	465	G	S465G	Likely benign	0	1	52	31
MUT:SACS:Ser554Arg	PROT:Q9NZJ4	SACS	S	554	R	S554R	Likely benign	0	2	52	21
MUT:SACS:Ser661Gly	PROT:Q9NZJ4	SACS	S	661	G	S661G	Likely benign	0	1	52	36
MUT:SACS:Ser69Ala	PROT:Q9NZJ4	SACS	S	69	A	S69A	Likely benign	0	1	52	46
MUT:SACS:Ser832Pro	PROT:Q9NZJ4	SACS	S	832	P	S832P	Likely benign	0	2	52	22
MUT:SACS:Ser874Asn	PROT:Q9NZJ4	SACS	S	874	N	S874N	Likely benign	0	1	52	9
MUT:SACS:Ser969Asn	PROT:Q9NZJ4	SACS	S	969	N	S969N	Likely benign	0	1	52	13
MUT:SACS:Thr1217Arg	PROT:Q9NZJ4	SACS	T	1217	R	T1217R	Likely benign	0	1	52	57
MUT:SACS:Thr1632Pro	PROT:Q9NZJ4	SACS	T	1632	P	T1632P	Likely benign	0	1	52	83
MUT:SACS:Thr1711Ile	PROT:Q9NZJ4	SACS	T	1711	I	T1711I	Likely benign	0	1	52	4
MUT:SACS:Thr1904Lys	PROT:Q9NZJ4	SACS	T	1904	K	T1904K	Likely benign	0	1	52	85
MUT:SACS:Thr2243Ile	PROT:Q9NZJ4	SACS	T	2243	I	T2243I	Likely benign	0	1	52	115
MUT:SACS:Thr2289Ile	PROT:Q9NZJ4	SACS	T	2289	I	T2289I	Likely benign	0	1	52	69
MUT:SACS:Thr2396Ala	PROT:Q9NZJ4	SACS	T	2396	A	T2396A	Likely benign	0	1	52	38
MUT:SACS:Thr2479Ser	PROT:Q9NZJ4	SACS	T	2479	S	T2479S	Benign/Likely benign	0	1	52	16
MUT:SACS:Thr2688Ala	PROT:Q9NZJ4	SACS	T	2688	A	T2688A	Likely benign	0	1	52	21
MUT:SACS:Thr2756Ile	PROT:Q9NZJ4	SACS	T	2756	I	T2756I	Likely benign	0	1	52	47
MUT:SACS:Thr2955Asn	PROT:Q9NZJ4	SACS	T	2955	N	T2955N	Likely benign	0	1	52	94
MUT:SACS:Thr3228Ile	PROT:Q9NZJ4	SACS	T	3228	I	T3228I	Likely benign	0	1	52	51
MUT:SACS:Thr3264Lys	PROT:Q9NZJ4	SACS	T	3264	K	T3264K	Likely benign	0	1	52	87
MUT:SACS:Thr3284Ala	PROT:Q9NZJ4	SACS	T	3284	A	T3284A	Likely benign	0	1	52	107
MUT:SACS:Thr3702Ala	PROT:Q9NZJ4	SACS	T	3702	A	T3702A	Likely pathogenic	1	1	52	188
MUT:SACS:Thr3712Ile	PROT:Q9NZJ4	SACS	T	3712	I	T3712I	Likely benign	0	1	52	198
MUT:SACS:Thr3834Ile	PROT:Q9NZJ4	SACS	T	3834	I	T3834I	Likely benign	0	2	52	84
MUT:SACS:Thr4056Lys	PROT:Q9NZJ4	SACS	T	4056	K	T4056K	Likely benign	0	1	52	138
MUT:SACS:Thr4110Ala	PROT:Q9NZJ4	SACS	T	4110	A	T4110A	Benign	0	1	52	147
MUT:SACS:Thr4167Ile	PROT:Q9NZJ4	SACS	T	4167	I	T4167I	Likely benign	0	2	52	90
MUT:SACS:Thr4263Pro	PROT:Q9NZJ4	SACS	T	4263	P	T4263P	Likely benign	0	1	52	1
MUT:SACS:Thr4270Ile	PROT:Q9NZJ4	SACS	T	4270	I	T4270I	Likely benign	0	1	52	4
MUT:SACS:Thr4288Ile	PROT:Q9NZJ4	SACS	T	4288	I	T4288I	Likely benign	0	1	52	14
MUT:SACS:Thr42Ala	PROT:Q9NZJ4	SACS	T	42	A	T42A	Likely benign	0	1	52	73
MUT:SACS:Thr42Ile	PROT:Q9NZJ4	SACS	T	42	I	T42I	Likely benign	0	1	52	73
MUT:SACS:Thr4399Ala	PROT:Q9NZJ4	SACS	T	4399	A	T4399A	Likely benign	0	1	52	20
MUT:SACS:Thr4406Met	PROT:Q9NZJ4	SACS	T	4406	M	T4406M	Likely benign	0	1	52	13
MUT:SACS:Thr4525Ala	PROT:Q9NZJ4	SACS	T	4525	A	T4525A	Likely benign	0	1	52	86
MUT:SACS:Thr4525Arg	PROT:Q9NZJ4	SACS	T	4525	R	T4525R	Likely benign	0	2	52	86
MUT:SACS:Thr4553Ile	PROT:Q9NZJ4	SACS	T	4553	I	T4553I	Likely pathogenic	1	1	52	114
MUT:SACS:Thr627Met	PROT:Q9NZJ4	SACS	T	627	M	T627M	Benign	0	1	52	2
MUT:SACS:Thr692Asn	PROT:Q9NZJ4	SACS	T	692	N	T692N	Likely benign	0	1	52	22
MUT:SACS:Thr93Ala	PROT:Q9NZJ4	SACS	T	93	A	T93A	Likely benign	0	1	52	22
MUT:SACS:Thr93Met	PROT:Q9NZJ4	SACS	T	93	M	T93M	Likely benign	0	1	52	22
MUT:SACS:Thr942Ile	PROT:Q9NZJ4	SACS	T	942	I	T942I	Likely benign	0	1	52	1
MUT:SACS:Trp1946Arg	PROT:Q9NZJ4	SACS	W	1946	R	W1946R	Pathogenic/Likely pathogenic	1	3	52	43
MUT:SACS:Trp3248Arg	PROT:Q9NZJ4	SACS	W	3248	R	W3248R	Pathogenic	1	1	52	71
MUT:SACS:Tyr1235His	PROT:Q9NZJ4	SACS	Y	1235	H	Y1235H	Likely benign	0	1	52	39
MUT:SACS:Tyr1245Cys	PROT:Q9NZJ4	SACS	Y	1245	C	Y1245C	Likely benign	0	1	52	29
MUT:SACS:Tyr133His	PROT:Q9NZJ4	SACS	Y	133	H	Y133H	Likely benign	0	1	52	18
MUT:SACS:Tyr159Asp	PROT:Q9NZJ4	SACS	Y	159	D	Y159D	Likely pathogenic	1	1	52	44
MUT:SACS:Tyr1921Asp	PROT:Q9NZJ4	SACS	Y	1921	D	Y1921D	Pathogenic	1	1	52	68
MUT:SACS:Tyr2210Cys	PROT:Q9NZJ4	SACS	Y	2210	C	Y2210C	Likely benign	0	1	52	148
MUT:SACS:Tyr3043Cys	PROT:Q9NZJ4	SACS	Y	3043	C	Y3043C	Likely benign	0	2	52	6
MUT:SACS:Tyr3056Cys	PROT:Q9NZJ4	SACS	Y	3056	C	Y3056C	Likely benign	0	1	52	7
MUT:SACS:Tyr3071Cys	PROT:Q9NZJ4	SACS	Y	3071	C	Y3071C	Likely benign	0	1	52	22
MUT:SACS:Tyr3080His	PROT:Q9NZJ4	SACS	Y	3080	H	Y3080H	Benign	0	1	52	31
MUT:SACS:Tyr319Phe	PROT:Q9NZJ4	SACS	Y	319	F	Y319F	Benign	0	1	52	19
MUT:SACS:Tyr4197His	PROT:Q9NZJ4	SACS	Y	4197	H	Y4197H	Likely benign	0	1	52	60
MUT:SACS:Tyr787Cys	PROT:Q9NZJ4	SACS	Y	787	C	Y787C	Likely benign	0	1	52	65
MUT:SACS:Val1048Ile	PROT:Q9NZJ4	SACS	V	1048	I	V1048I	Benign	0	1	52	59
MUT:SACS:Val1115Ile	PROT:Q9NZJ4	SACS	V	1115	I	V1115I	Likely benign	0	2	52	6
MUT:SACS:Val1134Ala	PROT:Q9NZJ4	SACS	V	1134	A	V1134A	Likely benign	0	1	52	25
MUT:SACS:Val1536Met	PROT:Q9NZJ4	SACS	V	1536	M	V1536M	Likely benign	0	1	52	71
MUT:SACS:Val1624Leu	PROT:Q9NZJ4	SACS	V	1624	L	V1624L	Likely benign	0	1	52	91
MUT:SACS:Val1728Ile	PROT:Q9NZJ4	SACS	V	1728	I	V1728I	Benign	0	1	52	13
MUT:SACS:Val1770Met	PROT:Q9NZJ4	SACS	V	1770	M	V1770M	Likely benign	0	1	52	9
MUT:SACS:Val1863Met	PROT:Q9NZJ4	SACS	V	1863	M	V1863M	Likely benign	0	1	52	66
MUT:SACS:Val1870Met	PROT:Q9NZJ4	SACS	V	1870	M	V1870M	Likely benign	0	1	52	73
MUT:SACS:Val2004Ala	PROT:Q9NZJ4	SACS	V	2004	A	V2004A	Benign	0	1	52	7
MUT:SACS:Val2149Ile	PROT:Q9NZJ4	SACS	V	2149	I	V2149I	Likely benign	0	1	52	106
MUT:SACS:Val2304Ile	PROT:Q9NZJ4	SACS	V	2304	I	V2304I	Likely benign	0	1	52	54
MUT:SACS:Val2403Leu	PROT:Q9NZJ4	SACS	V	2403	L	V2403L	Likely benign	0	2	52	45
MUT:SACS:Val2476Ile	PROT:Q9NZJ4	SACS	V	2476	I	V2476I	Likely benign	0	1	52	19
MUT:SACS:Val2943Ala	PROT:Q9NZJ4	SACS	V	2943	A	V2943A	Benign	0	1	52	106
MUT:SACS:Val3055Ala	PROT:Q9NZJ4	SACS	V	3055	A	V3055A	Benign	0	1	52	6
MUT:SACS:Val3093Ala	PROT:Q9NZJ4	SACS	V	3093	A	V3093A	Likely benign	0	1	52	44
MUT:SACS:Val3162Ile	PROT:Q9NZJ4	SACS	V	3162	I	V3162I	Likely benign	0	1	52	15
MUT:SACS:Val3272Gly	PROT:Q9NZJ4	SACS	V	3272	G	V3272G	Likely benign	0	1	52	95
MUT:SACS:Val3369Ala	PROT:Q9NZJ4	SACS	V	3369	A	V3369A	Benign/Likely benign	0	3	52	66
MUT:SACS:Val3369Gly	PROT:Q9NZJ4	SACS	V	3369	G	V3369G	Benign	0	1	52	66
MUT:SACS:Val3465Gly	PROT:Q9NZJ4	SACS	V	3465	G	V3465G	Benign	0	1	52	12
MUT:SACS:Val3583Met	PROT:Q9NZJ4	SACS	V	3583	M	V3583M	Likely benign	0	1	52	69
MUT:SACS:Val3673Ile	PROT:Q9NZJ4	SACS	V	3673	I	V3673I	Likely benign	0	1	52	159
MUT:SACS:Val3895Glu	PROT:Q9NZJ4	SACS	V	3895	E	V3895E	Likely benign	0	1	52	23
MUT:SACS:Val3917Ile	PROT:Q9NZJ4	SACS	V	3917	I	V3917I	Likely benign	0	1	52	1
MUT:SACS:Val548Ala	PROT:Q9NZJ4	SACS	V	548	A	V548A	Likely benign	0	1	52	15
MUT:SACS:Val782Phe	PROT:Q9NZJ4	SACS	V	782	F	V782F	Benign	0	1	52	60
MUT:SACS:Val995Ile	PROT:Q9NZJ4	SACS	V	995	I	V995I	Likely benign	0	1	52	6
MUT:SACS:Val995Phe	PROT:Q9NZJ4	SACS	V	995	F	V995F	Benign/Likely benign	0	10	52	6
MUT:SAG:Cys147Phe	PROT:P10523	SAG	C	147	F	C147F	Pathogenic	1	2	1	4
MUT:SAG:Ile76Val	PROT:P10523	SAG	I	76	V	I76V	Benign	0	3	1	67
MUT:SAG:Val403Ala	PROT:P10523	SAG	V	403	A	V403A	Benign	0	3	1	260
MUT:SAG:Val403Ile	PROT:P10523	SAG	V	403	I	V403I	Benign	0	4	1	260
MUT:SAGE1:Asn690Ile	PROT:Q9NXZ1	SAGE1	N	690	I	N690I	Benign	0	1	9	19
MUT:SAGE1:Asp766Val	PROT:Q9NXZ1	SAGE1	D	766	V	D766V	Benign	0	1	9	25
MUT:SAGE1:Gly369Arg	PROT:Q9NXZ1	SAGE1	G	369	R	G369R	Likely benign	0	1	9	112
MUT:SAGE1:Ile268Phe	PROT:Q9NXZ1	SAGE1	I	268	F	I268F	Benign	0	1	9	30
MUT:SAGE1:Leu373Phe	PROT:Q9NXZ1	SAGE1	L	373	F	L373F	Benign	0	1	9	108
MUT:SAGE1:Leu805Ser	PROT:Q9NXZ1	SAGE1	L	805	S	L805S	Benign	0	1	9	13
MUT:SAGE1:Phe605Cys	PROT:Q9NXZ1	SAGE1	F	605	C	F605C	Likely benign	0	1	9	66
MUT:SAGE1:Pro11Leu	PROT:Q9NXZ1	SAGE1	P	11	L	P11L	Benign	0	1	9	34
MUT:SALL1:Ala1222Val	PROT:Q9NSC2	SALL1	A	1222	V	A1222V	Benign/Likely benign	0	1	14	24
MUT:SALL1:Ala702Val	PROT:Q9NSC2	SALL1	A	702	V	A702V	Likely benign	0	1	14	27
MUT:SALL1:Ala79Pro	PROT:Q9NSC2	SALL1	A	79	P	A79P	Benign	0	1	14	381
MUT:SALL1:Ala957Gly	PROT:Q9NSC2	SALL1	A	957	G	A957G	Likely benign	0	1	14	14
MUT:SALL1:Asn1291Ser	PROT:Q9NSC2	SALL1	N	1291	S	N1291S	Benign/Likely benign	0	2	14	93
MUT:SALL1:Asn632Ser	PROT:Q9NSC2	SALL1	N	632	S	N632S	Likely benign	0	1	14	37
MUT:SALL1:Asn795Ser	PROT:Q9NSC2	SALL1	N	795	S	N795S	Likely benign	0	1	14	59
MUT:SALL1:Asp120Val	PROT:Q9NSC2	SALL1	D	120	V	D120V	Likely benign	0	1	14	340
MUT:SALL1:Glu626Asp	PROT:Q9NSC2	SALL1	E	626	D	E626D	Benign/Likely benign	0	1	14	31
MUT:SALL1:Gly1265Glu	PROT:Q9NSC2	SALL1	G	1265	E	G1265E	Benign/Likely benign	0	3	14	67
MUT:SALL1:Gly160Ser	PROT:Q9NSC2	SALL1	G	160	S	G160S	Benign/Likely benign	0	1	14	300
MUT:SALL1:Gly217Ser	PROT:Q9NSC2	SALL1	G	217	S	G217S	Likely benign	0	1	14	243
MUT:SALL1:Gly556Ser	PROT:Q9NSC2	SALL1	G	556	S	G556S	Likely pathogenic	1	1	14	25
MUT:SALL1:Ile409Val	PROT:Q9NSC2	SALL1	I	409	V	I409V	Likely benign	0	1	14	51
MUT:SALL1:Met98Val	PROT:Q9NSC2	SALL1	M	98	V	M98V	Benign	0	4	14	362
MUT:SALL1:Phe670Leu	PROT:Q9NSC2	SALL1	F	670	L	F670L	Benign	0	2	14	59
MUT:SALL1:Pro1104Ala	PROT:Q9NSC2	SALL1	P	1104	A	P1104A	Benign/Likely benign	0	3	14	15
MUT:SALL1:Pro130Leu	PROT:Q9NSC2	SALL1	P	130	L	P130L	Likely benign	0	2	14	330
MUT:SALL1:Pro270Leu	PROT:Q9NSC2	SALL1	P	270	L	P270L	Benign/Likely benign	0	1	14	190
MUT:SALL1:Pro635Leu	PROT:Q9NSC2	SALL1	P	635	L	P635L	Benign	0	2	14	40
MUT:SALL1:Ser158Gly	PROT:Q9NSC2	SALL1	S	158	G	S158G	Benign/Likely benign	0	2	14	302
MUT:SALL1:Ser159Gly	PROT:Q9NSC2	SALL1	S	159	G	S159G	Benign	0	2	14	301
MUT:SALL1:Ser400Leu	PROT:Q9NSC2	SALL1	S	400	L	S400L	Likely benign	0	1	14	60
MUT:SALL1:Ser624Asn	PROT:Q9NSC2	SALL1	S	624	N	S624N	Likely benign	0	1	14	29
MUT:SALL1:Thr522Met	PROT:Q9NSC2	SALL1	T	522	M	T522M	Benign/Likely benign	0	2	14	50
MUT:SALL1:Val1108Ile	PROT:Q9NSC2	SALL1	V	1108	I	V1108I	Likely benign	0	2	14	11
MUT:SALL1:Val1275Ile	PROT:Q9NSC2	SALL1	V	1275	I	V1275I	Benign	0	2	14	77
MUT:SALL1:Val127Leu	PROT:Q9NSC2	SALL1	V	127	L	V127L	Benign/Likely benign	0	1	14	333
MUT:SALL1:Val195Ile	PROT:Q9NSC2	SALL1	V	195	I	V195I	Likely benign	0	1	14	265
MUT:SAMD11:Arg207Gln	PROT:Q96NU1	SAMD11	R	207	Q	R207Q	Benign	0	1	1	436
MUT:SAMD11:Arg220Gln	PROT:Q96NU1	SAMD11	R	220	Q	R220Q	Benign	0	1	1	423
MUT:SAMD11:Arg246Gln	PROT:Q96NU1	SAMD11	R	246	Q	R246Q	Likely benign	0	1	1	397
MUT:SAMD11:Gly235Ser	PROT:Q96NU1	SAMD11	G	235	S	G235S	Likely benign	0	1	1	408
MUT:SAMD11:Gly284Ser	PROT:Q96NU1	SAMD11	G	284	S	G284S	Benign/Likely benign	0	1	1	359
MUT:SAMD11:Gly828Ala	PROT:Q96NU1	SAMD11	G	828	A	G828A	Benign	0	1	1	185
MUT:SAMD11:His257Tyr	PROT:Q96NU1	SAMD11	H	257	Y	H257Y	Benign	0	1	1	386
MUT:SAMD11:Leu795Phe	PROT:Q96NU1	SAMD11	L	795	F	L795F	Benign	0	1	1	152
MUT:SAMD11:Pro647Leu	PROT:Q96NU1	SAMD11	P	647	L	P647L	Benign	0	1	1	4
MUT:SAMD11:Pro649Leu	PROT:Q96NU1	SAMD11	P	649	L	P649L	Benign	0	1	1	6
MUT:SAMD11:Val642Ala	PROT:Q96NU1	SAMD11	V	642	A	V642A	Benign/Likely benign	0	1	1	1
MUT:SAMD7:Asp331Val	PROT:Q7Z3H4	SAMD7	D	331	V	D331V	Pathogenic	1	1	2	60
MUT:SAMD7:Val385Ile	PROT:Q7Z3H4	SAMD7	V	385	I	V385I	Pathogenic	1	1	2	6
MUT:SAMM50:Val46Ile	PROT:Q9Y512	SAMM50	V	46	I	V46I	Likely benign	0	4	11	26
MUT:SAR1B:Asp137Asn	PROT:Q9Y6B6	SAR1B	D	137	N	D137N	Pathogenic/Likely pathogenic	1	1	6	21
MUT:SAR1B:Gly185Val	PROT:Q9Y6B6	SAR1B	G	185	V	G185V	Pathogenic	1	1	6	21
MUT:SAR1B:Gly37Arg	PROT:Q9Y6B6	SAR1B	G	37	R	G37R	Pathogenic	1	1	6	1
MUT:SAR1B:Ser179Arg	PROT:Q9Y6B6	SAR1B	S	179	R	S179R	Pathogenic/Likely pathogenic	1	2	6	15
MUT:SARDH:Ala174Val	PROT:Q9UL12	SARDH	A	174	V	A174V	Likely benign	0	1	4	601
MUT:SARDH:Arg614His	PROT:Q9UL12	SARDH	R	614	H	R614H	Benign	0	1	4	161
MUT:SARDH:Arg61Gln	PROT:Q9UL12	SARDH	R	61	Q	R61Q	Benign	0	1	4	714
MUT:SARDH:Asn158Ser	PROT:Q9UL12	SARDH	N	158	S	N158S	Benign	0	1	4	617
MUT:SARDH:Ile155Val	PROT:Q9UL12	SARDH	I	155	V	I155V	Likely benign	0	1	4	620
MUT:SARDH:Met648Val	PROT:Q9UL12	SARDH	M	648	V	M648V	Benign	0	1	4	127
MUT:SARDH:Met90Ile	PROT:Q9UL12	SARDH	M	90	I	M90I	Likely benign	0	1	4	685
MUT:SARDH:Thr189Ile	PROT:Q9UL12	SARDH	T	189	I	T189I	Benign	0	1	4	586
MUT:SARM1:Pro456Ser	PROT:Q6SZW1	SARM1	P	456	S	P456S	Benign/Likely benign	0	1	2	92
MUT:SARS1:Gly387Glu	PROT:P49591	SARS1	G	387	E	G387E	Benign/Likely benign	0	1	24	11
MUT:SARS1:Ile324Thr	PROT:P49591	SARS1	I	324	T	I324T	Pathogenic	1	1	24	1
MUT:SASH1:Ala1143Thr	PROT:O94885	SASH1	A	1143	T	A1143T	Likely benign	0	1	42	90
MUT:SASH1:Ala939Val	PROT:O94885	SASH1	A	939	V	A939V	Likely benign	0	1	42	7
MUT:SASH1:Arg644Trp	PROT:O94885	SASH1	R	644	W	R644W	Likely pathogenic	1	1	42	30
MUT:SASH1:Arg820Gln	PROT:O94885	SASH1	R	820	Q	R820Q	Benign/Likely benign	0	1	42	1
MUT:SASH1:Gln884Arg	PROT:O94885	SASH1	Q	884	R	Q884R	Benign	0	2	42	17
MUT:SASH1:Gln926Pro	PROT:O94885	SASH1	Q	926	P	Q926P	Likely benign	0	1	42	3
MUT:SASH1:Glu509Lys	PROT:O94885	SASH1	E	509	K	E509K	Likely pathogenic	1	1	42	1
MUT:SASH1:Glu617Lys	PROT:O94885	SASH1	E	617	K	E617K	Pathogenic/Likely pathogenic	1	1	42	3
MUT:SASH1:Gly1196Ser	PROT:O94885	SASH1	G	1196	S	G1196S	Likely benign	0	1	42	37
MUT:SASH1:Gly398Arg	PROT:O94885	SASH1	G	398	R	G398R	Likely benign	0	1	42	1
MUT:SASH1:Gly921Ser	PROT:O94885	SASH1	G	921	S	G921S	Likely benign	0	1	42	2
MUT:SASH1:Ile1228Val	PROT:O94885	SASH1	I	1228	V	I1228V	Likely benign	0	1	42	5
MUT:SASH1:Leu515Pro	PROT:O94885	SASH1	L	515	P	L515P	Likely pathogenic	1	1	42	5
MUT:SASH1:Pro828Ser	PROT:O94885	SASH1	P	828	S	P828S	Likely benign	0	1	42	7
MUT:SASH1:Ser1028Arg	PROT:O94885	SASH1	S	1028	R	S1028R	Benign/Likely benign	0	1	42	0
MUT:SASH1:Ser387Phe	PROT:O94885	SASH1	S	387	F	S387F	Benign	0	1	42	0
MUT:SASH1:Ser507Ala	PROT:O94885	SASH1	S	507	A	S507A	Likely pathogenic	1	1	42	0
MUT:SASH1:Ser516Arg	PROT:O94885	SASH1	S	516	R	S516R	Likely pathogenic	1	1	42	6
MUT:SASH1:Ser519Asn	PROT:O94885	SASH1	S	519	N	S519N	Likely pathogenic	1	1	42	9
MUT:SASH1:Thr1095Met	PROT:O94885	SASH1	T	1095	M	T1095M	Likely benign	0	1	42	44
MUT:SASH1:Thr525Ile	PROT:O94885	SASH1	T	525	I	T525I	Likely pathogenic	1	1	42	15
MUT:SASH1:Thr604Lys	PROT:O94885	SASH1	T	604	K	T604K	Likely pathogenic	1	1	42	10
MUT:SASH1:Tyr551Asp	PROT:O94885	SASH1	Y	551	D	Y551D	Likely pathogenic	1	1	42	0
MUT:SASH1:Tyr551His	PROT:O94885	SASH1	Y	551	H	Y551H	Likely pathogenic	1	1	42	0
MUT:SASH1:Val420Ile	PROT:O94885	SASH1	V	420	I	V420I	Likely benign	0	1	42	3
MUT:SASH3:Arg347Cys	PROT:O75995	SASH3	R	347	C	R347C	Pathogenic	1	1	26	2
MUT:SAXO6:Met1Thr	PROT:Q8TC05	SAXO6	M	1	T	M1T	Pathogenic	1	2	18	47
MUT:SBDS:Arg218Gln	PROT:Q9Y3A5	SBDS	R	218	Q	R218Q	Pathogenic/Likely pathogenic	1	2	24	15
MUT:SBDS:Asn34Ile	PROT:Q9Y3A5	SBDS	N	34	I	N34I	Likely pathogenic	1	1	24	1
MUT:SBDS:Cys119Tyr	PROT:Q9Y3A5	SBDS	C	119	Y	C119Y	Pathogenic	1	1	24	1
MUT:SBDS:Cys210Tyr	PROT:Q9Y3A5	SBDS	C	210	Y	C210Y	Likely pathogenic	1	1	24	23
MUT:SBDS:Gly63Ser	PROT:Q9Y3A5	SBDS	G	63	S	G63S	Likely pathogenic	1	1	24	1
MUT:SBDS:Ile212Thr	PROT:Q9Y3A5	SBDS	I	212	T	I212T	Benign/Likely benign	0	2	24	21
MUT:SBDS:Lys33Thr	PROT:Q9Y3A5	SBDS	K	33	T	K33T	Pathogenic/Likely pathogenic	1	2	24	0
MUT:SBDS:Tyr32Cys	PROT:Q9Y3A5	SBDS	Y	32	C	Y32C	Likely pathogenic	1	1	24	1
MUT:SBDS:Val56Ala	PROT:Q9Y3A5	SBDS	V	56	A	V56A	Likely pathogenic	1	1	24	6
MUT:SC5D:Arg277His	PROT:O75845	SC5D	R	277	H	R277H	Likely benign	0	1	6	7
MUT:SC5D:Arg29Gln	PROT:O75845	SC5D	R	29	Q	R29Q	Likely pathogenic	1	1	6	41
MUT:SC5D:Asp210Glu	PROT:O75845	SC5D	D	210	E	D210E	Pathogenic	1	1	6	43
MUT:SC5D:Gly211Asp	PROT:O75845	SC5D	G	211	D	G211D	Likely pathogenic	1	1	6	42
MUT:SC5D:Ile182Val	PROT:O75845	SC5D	I	182	V	I182V	Benign	0	1	6	71
MUT:SC5D:Ile99Val	PROT:O75845	SC5D	I	99	V	I99V	Likely benign	0	1	6	29
MUT:SC5D:Pro160Arg	PROT:O75845	SC5D	P	160	R	P160R	Pathogenic	1	1	6	90
MUT:SC5D:Tyr46Ser	PROT:O75845	SC5D	Y	46	S	Y46S	Pathogenic	1	1	6	24
MUT:SC5D:Val121Ile	PROT:O75845	SC5D	V	121	I	V121I	Likely benign	0	1	6	51
MUT:SCAF1:Pro974Leu	PROT:Q9H7N4	SCAF1	P	974	L	P974L	Likely benign	0	1	48	1
MUT:SCAF4:Ala309Thr	PROT:O95104	SCAF4	A	309	T	A309T	Likely benign	0	1	13	72
MUT:SCAF4:Ala796Thr	PROT:O95104	SCAF4	A	796	T	A796T	Likely benign	0	1	13	208
MUT:SCAF4:Arg1147Cys	PROT:O95104	SCAF4	R	1147	C	R1147C	Likely benign	0	1	13	16
MUT:SCAF4:Asn1007Asp	PROT:O95104	SCAF4	N	1007	D	N1007D	Likely benign	0	1	13	3
MUT:SCAF4:Asn147Ser	PROT:O95104	SCAF4	N	147	S	N147S	Likely benign	0	1	13	28
MUT:SCAF4:Asn639Ser	PROT:O95104	SCAF4	N	639	S	N639S	Likely benign	0	1	13	56
MUT:SCAF4:Asp1029Asn	PROT:O95104	SCAF4	D	1029	N	D1029N	Likely benign	0	1	13	8
MUT:SCAF4:Asp1058Glu	PROT:O95104	SCAF4	D	1058	E	D1058E	Likely benign	0	1	13	21
MUT:SCAF4:Glu146Gly	PROT:O95104	SCAF4	E	146	G	E146G	Likely benign	0	1	13	27
MUT:SCAF4:Glu935Gly	PROT:O95104	SCAF4	E	935	G	E935G	Likely benign	0	1	13	69
MUT:SCAF4:Gly688Ser	PROT:O95104	SCAF4	G	688	S	G688S	Likely benign	0	1	13	105
MUT:SCAF4:Gly73Ser	PROT:O95104	SCAF4	G	73	S	G73S	Likely pathogenic	1	1	13	24
MUT:SCAF4:Ile575Val	PROT:O95104	SCAF4	I	575	V	I575V	Likely benign	0	1	13	1
MUT:SCAF4:Ile763Leu	PROT:O95104	SCAF4	I	763	L	I763L	Likely benign	0	1	13	180
MUT:SCAF4:Pro1095Ser	PROT:O95104	SCAF4	P	1095	S	P1095S	Likely benign	0	1	13	36
MUT:SCAF4:Pro217Ala	PROT:O95104	SCAF4	P	217	A	P217A	Likely benign	0	1	13	19
MUT:SCAF4:Pro250Leu	PROT:O95104	SCAF4	P	250	L	P250L	Likely benign	0	1	13	13
MUT:SCAF4:Pro251Arg	PROT:O95104	SCAF4	P	251	R	P251R	Likely benign	0	1	13	14
MUT:SCAF4:Pro352Ala	PROT:O95104	SCAF4	P	352	A	P352A	Likely benign	0	1	13	112
MUT:SCAF4:Pro609Ser	PROT:O95104	SCAF4	P	609	S	P609S	Likely benign	0	1	13	26
MUT:SCAF4:Pro684Ala	PROT:O95104	SCAF4	P	684	A	P684A	Likely benign	0	1	13	101
MUT:SCAF4:Pro944Leu	PROT:O95104	SCAF4	P	944	L	P944L	Likely benign	0	1	13	60
MUT:SCAF4:Pro967Gln	PROT:O95104	SCAF4	P	967	Q	P967Q	Likely benign	0	1	13	37
MUT:SCAF4:Ser438Thr	PROT:O95104	SCAF4	S	438	T	S438T	Likely benign	0	1	13	26
MUT:SCAF4:Thr287Met	PROT:O95104	SCAF4	T	287	M	T287M	Likely benign	0	1	13	50
MUT:SCAF4:Val1133Ala	PROT:O95104	SCAF4	V	1133	A	V1133A	Likely benign	0	1	13	2
MUT:SCAF4:Val174Ile	PROT:O95104	SCAF4	V	174	I	V174I	Likely benign	0	1	13	55
MUT:SCAF4:Val357Ile	PROT:O95104	SCAF4	V	357	I	V357I	Likely benign	0	1	13	107
MUT:SCAF4:Val666Ile	PROT:O95104	SCAF4	V	666	I	V666I	Likely benign	0	1	13	83
MUT:SCAPER:Ala1140Thr	PROT:Q9BY12	SCAPER	A	1140	T	A1140T	Benign	0	1	19	54
MUT:SCAPER:Ala242Thr	PROT:Q9BY12	SCAPER	A	242	T	A242T	Likely benign	0	1	19	18
MUT:SCAPER:Ala973Val	PROT:Q9BY12	SCAPER	A	973	V	A973V	Likely benign	0	1	19	59
MUT:SCAPER:Asn1097Ser	PROT:Q9BY12	SCAPER	N	1097	S	N1097S	Benign	0	1	19	11
MUT:SCAPER:Gln1166Glu	PROT:Q9BY12	SCAPER	Q	1166	E	Q1166E	Likely benign	0	1	19	80
MUT:SCAPER:Ile1213Val	PROT:Q9BY12	SCAPER	I	1213	V	I1213V	Likely benign	0	1	19	127
MUT:SCAPER:Lys1114Thr	PROT:Q9BY12	SCAPER	K	1114	T	K1114T	Likely benign	0	1	19	28
MUT:SCAPER:Met1Val	PROT:Q9BY12	SCAPER	M	1	V	M1V	Benign	0	1	19	85
MUT:SCAPER:Met383Thr	PROT:Q9BY12	SCAPER	M	383	T	M383T	Likely benign	0	1	19	70
MUT:SCAPER:Pro1089Thr	PROT:Q9BY12	SCAPER	P	1089	T	P1089T	Benign	0	1	19	3
MUT:SCAPER:Pro1282Thr	PROT:Q9BY12	SCAPER	P	1282	T	P1282T	Likely benign	0	1	19	196
MUT:SCAPER:Ser32Asn	PROT:Q9BY12	SCAPER	S	32	N	S32N	Benign/Likely benign	0	1	19	54
MUT:SCAPER:Ser371Pro	PROT:Q9BY12	SCAPER	S	371	P	S371P	Likely benign	0	1	19	58
MUT:SCAPER:Ser75Leu	PROT:Q9BY12	SCAPER	S	75	L	S75L	Benign	0	1	19	11
MUT:SCAPER:Thr279Ala	PROT:Q9BY12	SCAPER	T	279	A	T279A	Likely benign	0	2	19	19
MUT:SCAPER:Thr77Met	PROT:Q9BY12	SCAPER	T	77	M	T77M	Likely benign	0	1	19	9
MUT:SCAPER:Tyr886Phe	PROT:Q9BY12	SCAPER	Y	886	F	Y886F	Benign/Likely benign	0	1	19	28
MUT:SCARB1:Val331Ile	PROT:Q8WTV0	SCARB1	V	331	I	V331I	Likely benign	0	1	4	159
MUT:SCARB2:Arg121Gln	PROT:Q14108	SCARB2	R	121	Q	R121Q	Benign	0	1	7	31
MUT:SCARB2:Gly462Glu	PROT:Q14108	SCARB2	G	462	E	G462E	Benign/Likely benign	0	1	7	16
MUT:SCARB2:Met159Val	PROT:Q14108	SCARB2	M	159	V	M159V	Benign	0	3	7	69
MUT:SCARB2:Val396Ile	PROT:Q14108	SCARB2	V	396	I	V396I	Benign	0	2	7	8
MUT:SCD5:Trp209Ser	PROT:Q86SK9	SCD5	W	209	S	W209S	Pathogenic	1	1	5	36
MUT:SCEL:Gly59Ser	PROT:O95171	SCEL	G	59	S	G59S	Likely pathogenic	1	1	17	47
MUT:SCGN:Leu150Gln	PROT:O76038	SCGN	L	150	Q	L150Q	Likely benign	0	1	2	58
MUT:SCLT1:Arg503Lys	PROT:Q96NL6	SCLT1	R	503	K	R503K	Benign	0	1	10	18
MUT:SCLT1:Asp104Glu	PROT:Q96NL6	SCLT1	D	104	E	D104E	Benign/Likely benign	0	1	10	5
MUT:SCLT1:Glu243Lys	PROT:Q96NL6	SCLT1	E	243	K	E243K	Benign	0	1	10	104
MUT:SCLT1:Glu354Asp	PROT:Q96NL6	SCLT1	E	354	D	E354D	Benign	0	1	10	7
MUT:SCLT1:Lys544Arg	PROT:Q96NL6	SCLT1	K	544	R	K544R	Pathogenic/Likely pathogenic	1	1	10	23
MUT:SCLT1:Met256Ile	PROT:Q96NL6	SCLT1	M	256	I	M256I	Benign	0	1	10	91
MUT:SCN1A:Ala104Asp	PROT:P35498	SCN1A	A	104	D	A104D	Pathogenic	1	2	22	16
MUT:SCN1A:Ala1118Ser	PROT:P35498	SCN1A	A	1118	S	A1118S	Pathogenic	1	1	22	52
MUT:SCN1A:Ala121Gly	PROT:P35498	SCN1A	A	121	G	A121G	Likely pathogenic	1	1	22	33
MUT:SCN1A:Ala121Pro	PROT:P35498	SCN1A	A	121	P	A121P	Pathogenic/Likely pathogenic	1	1	22	33
MUT:SCN1A:Ala1236Pro	PROT:P35498	SCN1A	A	1236	P	A1236P	Pathogenic/Likely pathogenic	1	2	22	170
MUT:SCN1A:Ala1236Thr	PROT:P35498	SCN1A	A	1236	T	A1236T	Pathogenic	1	1	22	170
MUT:SCN1A:Ala1255Pro	PROT:P35498	SCN1A	A	1255	P	A1255P	Pathogenic	1	1	22	189
MUT:SCN1A:Ala1273Val	PROT:P35498	SCN1A	A	1273	V	A1273V	Pathogenic/Likely pathogenic	1	1	22	207
MUT:SCN1A:Ala1311Thr	PROT:P35498	SCN1A	A	1311	T	A1311T	Likely benign	0	1	22	195
MUT:SCN1A:Ala1326Asp	PROT:P35498	SCN1A	A	1326	D	A1326D	Pathogenic/Likely pathogenic	1	2	22	180
MUT:SCN1A:Ala1326Thr	PROT:P35498	SCN1A	A	1326	T	A1326T	Likely pathogenic	1	1	22	180
MUT:SCN1A:Ala1339Asp	PROT:P35498	SCN1A	A	1339	D	A1339D	Pathogenic	1	1	22	167
MUT:SCN1A:Ala1339Thr	PROT:P35498	SCN1A	A	1339	T	A1339T	Likely pathogenic	1	1	22	167
MUT:SCN1A:Ala1339Val	PROT:P35498	SCN1A	A	1339	V	A1339V	Pathogenic	1	1	22	167
MUT:SCN1A:Ala1343Ser	PROT:P35498	SCN1A	A	1343	S	A1343S	Likely pathogenic	1	1	22	163
MUT:SCN1A:Ala1343Val	PROT:P35498	SCN1A	A	1343	V	A1343V	Likely pathogenic	1	1	22	163
MUT:SCN1A:Ala1370Pro	PROT:P35498	SCN1A	A	1370	P	A1370P	Likely pathogenic	1	1	22	136
MUT:SCN1A:Ala1370Val	PROT:P35498	SCN1A	A	1370	V	A1370V	Pathogenic	1	1	22	136
MUT:SCN1A:Ala1406Ser	PROT:P35498	SCN1A	A	1406	S	A1406S	Likely pathogenic	1	1	22	100
MUT:SCN1A:Ala1406Thr	PROT:P35498	SCN1A	A	1406	T	A1406T	Pathogenic/Likely pathogenic	1	2	22	100
MUT:SCN1A:Ala1429Thr	PROT:P35498	SCN1A	A	1429	T	A1429T	Pathogenic	1	1	22	77
MUT:SCN1A:Ala1429Val	PROT:P35498	SCN1A	A	1429	V	A1429V	Pathogenic	1	1	22	77
MUT:SCN1A:Ala1440Thr	PROT:P35498	SCN1A	A	1440	T	A1440T	Pathogenic	1	1	22	66
MUT:SCN1A:Ala1441Pro	PROT:P35498	SCN1A	A	1441	P	A1441P	Likely pathogenic	1	1	22	65
MUT:SCN1A:Ala1441Thr	PROT:P35498	SCN1A	A	1441	T	A1441T	Pathogenic/Likely pathogenic	1	1	22	65
MUT:SCN1A:Ala1441Val	PROT:P35498	SCN1A	A	1441	V	A1441V	Pathogenic/Likely pathogenic	1	1	22	65
MUT:SCN1A:Ala1641Thr	PROT:P35498	SCN1A	A	1641	T	A1641T	Pathogenic	1	1	22	43
MUT:SCN1A:Ala1653Val	PROT:P35498	SCN1A	A	1653	V	A1653V	Pathogenic	1	1	22	31
MUT:SCN1A:Ala1662Val	PROT:P35498	SCN1A	A	1662	V	A1662V	Pathogenic/Likely pathogenic	1	1	22	22
MUT:SCN1A:Ala1669Glu	PROT:P35498	SCN1A	A	1669	E	A1669E	Pathogenic	1	2	22	15
MUT:SCN1A:Ala1669Thr	PROT:P35498	SCN1A	A	1669	T	A1669T	Pathogenic	1	2	22	15
MUT:SCN1A:Ala1685Val	PROT:P35498	SCN1A	A	1685	V	A1685V	Pathogenic	1	3	22	1
MUT:SCN1A:Ala1724Pro	PROT:P35498	SCN1A	A	1724	P	A1724P	Pathogenic	1	1	22	30
MUT:SCN1A:Ala1724Thr	PROT:P35498	SCN1A	A	1724	T	A1724T	Pathogenic	1	1	22	30
MUT:SCN1A:Ala1724Val	PROT:P35498	SCN1A	A	1724	V	A1724V	Pathogenic	1	1	22	30
MUT:SCN1A:Ala175Thr	PROT:P35498	SCN1A	A	175	T	A175T	Pathogenic/Likely pathogenic	1	2	22	87
MUT:SCN1A:Ala175Val	PROT:P35498	SCN1A	A	175	V	A175V	Pathogenic	1	1	22	87
MUT:SCN1A:Ala1783Thr	PROT:P35498	SCN1A	A	1783	T	A1783T	Pathogenic	1	4	22	89
MUT:SCN1A:Ala1783Val	PROT:P35498	SCN1A	A	1783	V	A1783V	Pathogenic	1	2	22	89
MUT:SCN1A:Ala1792Thr	PROT:P35498	SCN1A	A	1792	T	A1792T	Pathogenic	1	1	22	98
MUT:SCN1A:Ala1819Thr	PROT:P35498	SCN1A	A	1819	T	A1819T	Likely pathogenic	1	1	22	89
MUT:SCN1A:Ala1919Gly	PROT:P35498	SCN1A	A	1919	G	A1919G	Likely pathogenic	1	1	22	1
MUT:SCN1A:Ala201Glu	PROT:P35498	SCN1A	A	201	E	A201E	Pathogenic	1	1	22	113
MUT:SCN1A:Ala201Val	PROT:P35498	SCN1A	A	201	V	A201V	Likely pathogenic	1	1	22	113
MUT:SCN1A:Ala239Asp	PROT:P35498	SCN1A	A	239	D	A239D	Pathogenic	1	1	22	151
MUT:SCN1A:Ala239Gly	PROT:P35498	SCN1A	A	239	G	A239G	Pathogenic	1	1	22	151
MUT:SCN1A:Ala239Thr	PROT:P35498	SCN1A	A	239	T	A239T	Pathogenic	1	2	22	151
MUT:SCN1A:Ala239Val	PROT:P35498	SCN1A	A	239	V	A239V	Pathogenic	1	1	22	151
MUT:SCN1A:Ala23Val	PROT:P35498	SCN1A	A	23	V	A23V	Benign/Likely benign	0	1	22	65
MUT:SCN1A:Ala24Thr	PROT:P35498	SCN1A	A	24	T	A24T	Pathogenic	1	1	22	64
MUT:SCN1A:Ala333Thr	PROT:P35498	SCN1A	A	333	T	A333T	Likely pathogenic	1	1	22	147
MUT:SCN1A:Ala342Glu	PROT:P35498	SCN1A	A	342	E	A342E	Likely pathogenic	1	1	22	138
MUT:SCN1A:Ala342Ser	PROT:P35498	SCN1A	A	342	S	A342S	Pathogenic/Likely pathogenic	1	1	22	138
MUT:SCN1A:Ala342Val	PROT:P35498	SCN1A	A	342	V	A342V	Pathogenic	1	1	22	138
MUT:SCN1A:Ala371Pro	PROT:P35498	SCN1A	A	371	P	A371P	Likely pathogenic	1	1	22	109
MUT:SCN1A:Ala394Val	PROT:P35498	SCN1A	A	394	V	A394V	Likely pathogenic	1	1	22	86
MUT:SCN1A:Ala395Asp	PROT:P35498	SCN1A	A	395	D	A395D	Pathogenic/Likely pathogenic	1	1	22	85
MUT:SCN1A:Ala395Gly	PROT:P35498	SCN1A	A	395	G	A395G	Likely pathogenic	1	1	22	85
MUT:SCN1A:Ala420Pro	PROT:P35498	SCN1A	A	420	P	A420P	Likely pathogenic	1	1	22	60
MUT:SCN1A:Ala420Val	PROT:P35498	SCN1A	A	420	V	A420V	Likely pathogenic	1	3	22	60
MUT:SCN1A:Ala464Pro	PROT:P35498	SCN1A	A	464	P	A464P	Likely benign	0	1	22	16
MUT:SCN1A:Ala786Val	PROT:P35498	SCN1A	A	786	V	A786V	Likely pathogenic	1	1	22	56
MUT:SCN1A:Ala821Pro	PROT:P35498	SCN1A	A	821	P	A821P	Likely pathogenic	1	1	22	91
MUT:SCN1A:Ala889Thr	PROT:P35498	SCN1A	A	889	T	A889T	Pathogenic/Likely pathogenic	1	2	22	159
MUT:SCN1A:Ala924Thr	PROT:P35498	SCN1A	A	924	T	A924T	Benign/Likely benign	0	3	22	139
MUT:SCN1A:Ala989Val	PROT:P35498	SCN1A	A	989	V	A989V	Pathogenic/Likely pathogenic	1	1	22	74
MUT:SCN1A:Arg101Gln	PROT:P35498	SCN1A	R	101	Q	R101Q	Pathogenic	1	4	22	13
MUT:SCN1A:Arg101Trp	PROT:P35498	SCN1A	R	101	W	R101W	Pathogenic/Likely pathogenic	1	3	22	13
MUT:SCN1A:Arg118Gly	PROT:P35498	SCN1A	R	118	G	R118G	Likely pathogenic	1	1	22	30
MUT:SCN1A:Arg1213Gln	PROT:P35498	SCN1A	R	1213	Q	R1213Q	Likely benign	0	1	22	147
MUT:SCN1A:Arg1245Gln	PROT:P35498	SCN1A	R	1245	Q	R1245Q	Pathogenic/Likely pathogenic	1	4	22	179
MUT:SCN1A:Arg1322Ser	PROT:P35498	SCN1A	R	1322	S	R1322S	Likely pathogenic	1	1	22	184
MUT:SCN1A:Arg1322Thr	PROT:P35498	SCN1A	R	1322	T	R1322T	Pathogenic	1	1	22	184
MUT:SCN1A:Arg1329Leu	PROT:P35498	SCN1A	R	1329	L	R1329L	Pathogenic	1	1	22	177
MUT:SCN1A:Arg1329Pro	PROT:P35498	SCN1A	R	1329	P	R1329P	Pathogenic	1	1	22	177
MUT:SCN1A:Arg1596Cys	PROT:P35498	SCN1A	R	1596	C	R1596C	Pathogenic/Likely pathogenic	1	6	22	80
MUT:SCN1A:Arg1596Ser	PROT:P35498	SCN1A	R	1596	S	R1596S	Likely pathogenic	1	1	22	80
MUT:SCN1A:Arg1636Gly	PROT:P35498	SCN1A	R	1636	G	R1636G	Likely pathogenic	1	1	22	48
MUT:SCN1A:Arg1636Leu	PROT:P35498	SCN1A	R	1636	L	R1636L	Likely pathogenic	1	1	22	48
MUT:SCN1A:Arg1636Pro	PROT:P35498	SCN1A	R	1636	P	R1636P	Likely pathogenic	1	2	22	48
MUT:SCN1A:Arg1639Cys	PROT:P35498	SCN1A	R	1639	C	R1639C	Likely pathogenic	1	1	22	45
MUT:SCN1A:Arg1639Gly	PROT:P35498	SCN1A	R	1639	G	R1639G	Pathogenic	1	1	22	45
MUT:SCN1A:Arg1639Leu	PROT:P35498	SCN1A	R	1639	L	R1639L	Likely pathogenic	1	1	22	45
MUT:SCN1A:Arg1639Pro	PROT:P35498	SCN1A	R	1639	P	R1639P	Pathogenic	1	2	22	45
MUT:SCN1A:Arg1642Gly	PROT:P35498	SCN1A	R	1642	G	R1642G	Likely pathogenic	1	1	22	42
MUT:SCN1A:Arg1642Met	PROT:P35498	SCN1A	R	1642	M	R1642M	Pathogenic/Likely pathogenic	1	1	22	42
MUT:SCN1A:Arg1642Ser	PROT:P35498	SCN1A	R	1642	S	R1642S	Likely pathogenic	1	1	22	42
MUT:SCN1A:Arg1645Gln	PROT:P35498	SCN1A	R	1645	Q	R1645Q	Pathogenic	1	4	22	39
MUT:SCN1A:Arg1645Gly	PROT:P35498	SCN1A	R	1645	G	R1645G	Pathogenic	1	1	22	39
MUT:SCN1A:Arg1645Pro	PROT:P35498	SCN1A	R	1645	P	R1645P	Pathogenic	1	1	22	39
MUT:SCN1A:Arg1648Cys	PROT:P35498	SCN1A	R	1648	C	R1648C	Pathogenic	1	2	22	36
MUT:SCN1A:Arg1648His	PROT:P35498	SCN1A	R	1648	H	R1648H	Pathogenic	1	4	22	36
MUT:SCN1A:Arg1648Leu	PROT:P35498	SCN1A	R	1648	L	R1648L	Pathogenic/Likely pathogenic	1	1	22	36
MUT:SCN1A:Arg1648Ser	PROT:P35498	SCN1A	R	1648	S	R1648S	Likely pathogenic	1	1	22	36
MUT:SCN1A:Arg1657Cys	PROT:P35498	SCN1A	R	1657	C	R1657C	Pathogenic	1	4	22	27
MUT:SCN1A:Arg1657His	PROT:P35498	SCN1A	R	1657	H	R1657H	Pathogenic/Likely pathogenic	1	4	22	27
MUT:SCN1A:Arg1657Leu	PROT:P35498	SCN1A	R	1657	L	R1657L	Likely pathogenic	1	1	22	27
MUT:SCN1A:Arg1657Pro	PROT:P35498	SCN1A	R	1657	P	R1657P	Pathogenic	1	1	22	27
MUT:SCN1A:Arg1657Ser	PROT:P35498	SCN1A	R	1657	S	R1657S	Likely pathogenic	1	1	22	27
MUT:SCN1A:Arg1861Trp	PROT:P35498	SCN1A	R	1861	W	R1861W	Pathogenic/Likely pathogenic	1	2	22	47
MUT:SCN1A:Arg1874Trp	PROT:P35498	SCN1A	R	1874	W	R1874W	Likely pathogenic	1	2	22	34
MUT:SCN1A:Arg187Pro	PROT:P35498	SCN1A	R	187	P	R187P	Pathogenic	1	1	22	99
MUT:SCN1A:Arg1912Gly	PROT:P35498	SCN1A	R	1912	G	R1912G	Pathogenic	1	1	22	3
MUT:SCN1A:Arg1927Thr	PROT:P35498	SCN1A	R	1927	T	R1927T	Pathogenic	1	1	22	1
MUT:SCN1A:Arg1928Gly	PROT:P35498	SCN1A	R	1928	G	R1928G	Benign/Likely benign	0	4	22	2
MUT:SCN1A:Arg219Gly	PROT:P35498	SCN1A	R	219	G	R219G	Pathogenic/Likely pathogenic	1	1	22	131
MUT:SCN1A:Arg219Thr	PROT:P35498	SCN1A	R	219	T	R219T	Pathogenic/Likely pathogenic	1	1	22	131
MUT:SCN1A:Arg28His	PROT:P35498	SCN1A	R	28	H	R28H	Likely benign	0	5	22	60
MUT:SCN1A:Arg28Leu	PROT:P35498	SCN1A	R	28	L	R28L	Likely pathogenic	1	1	22	60
MUT:SCN1A:Arg322Ile	PROT:P35498	SCN1A	R	322	I	R322I	Pathogenic	1	2	22	158
MUT:SCN1A:Arg377Gln	PROT:P35498	SCN1A	R	377	Q	R377Q	Pathogenic/Likely pathogenic	1	4	22	103
MUT:SCN1A:Arg377Gly	PROT:P35498	SCN1A	R	377	G	R377G	Likely pathogenic	1	1	22	103
MUT:SCN1A:Arg377His	PROT:P35498	SCN1A	R	377	H	R377H	Likely pathogenic	1	1	22	103
MUT:SCN1A:Arg377Leu	PROT:P35498	SCN1A	R	377	L	R377L	Pathogenic/Likely pathogenic	1	1	22	103
MUT:SCN1A:Arg377Pro	PROT:P35498	SCN1A	R	377	P	R377P	Likely pathogenic	1	1	22	103
MUT:SCN1A:Arg393Cys	PROT:P35498	SCN1A	R	393	C	R393C	Pathogenic/Likely pathogenic	1	3	22	87
MUT:SCN1A:Arg393Gly	PROT:P35498	SCN1A	R	393	G	R393G	Likely pathogenic	1	1	22	87
MUT:SCN1A:Arg393His	PROT:P35498	SCN1A	R	393	H	R393H	Pathogenic/Likely pathogenic	1	4	22	87
MUT:SCN1A:Arg393Leu	PROT:P35498	SCN1A	R	393	L	R393L	Likely pathogenic	1	1	22	87
MUT:SCN1A:Arg393Pro	PROT:P35498	SCN1A	R	393	P	R393P	Pathogenic	1	1	22	87
MUT:SCN1A:Arg393Ser	PROT:P35498	SCN1A	R	393	S	R393S	Pathogenic	1	2	22	87
MUT:SCN1A:Arg560Cys	PROT:P35498	SCN1A	R	560	C	R560C	Likely benign	0	3	22	16
MUT:SCN1A:Arg604His	PROT:P35498	SCN1A	R	604	H	R604H	Benign/Likely benign	0	5	22	3
MUT:SCN1A:Arg612Gln	PROT:P35498	SCN1A	R	612	Q	R612Q	Likely benign	0	1	22	5
MUT:SCN1A:Arg630Trp	PROT:P35498	SCN1A	R	630	W	R630W	Likely benign	0	1	22	23
MUT:SCN1A:Arg693Met	PROT:P35498	SCN1A	R	693	M	R693M	Likely benign	0	1	22	37
MUT:SCN1A:Arg859Cys	PROT:P35498	SCN1A	R	859	C	R859C	Pathogenic	1	6	22	129
MUT:SCN1A:Arg859His	PROT:P35498	SCN1A	R	859	H	R859H	Pathogenic	1	6	22	129
MUT:SCN1A:Arg859Leu	PROT:P35498	SCN1A	R	859	L	R859L	Likely pathogenic	1	1	22	129
MUT:SCN1A:Arg862Gly	PROT:P35498	SCN1A	R	862	G	R862G	Pathogenic	1	1	22	132
MUT:SCN1A:Arg862Leu	PROT:P35498	SCN1A	R	862	L	R862L	Pathogenic/Likely pathogenic	1	2	22	132
MUT:SCN1A:Arg862Pro	PROT:P35498	SCN1A	R	862	P	R862P	Pathogenic	1	1	22	132
MUT:SCN1A:Arg865Gln	PROT:P35498	SCN1A	R	865	Q	R865Q	Pathogenic/Likely pathogenic	1	2	22	135
MUT:SCN1A:Arg931Cys	PROT:P35498	SCN1A	R	931	C	R931C	Pathogenic/Likely pathogenic	1	3	22	132
MUT:SCN1A:Arg931Gly	PROT:P35498	SCN1A	R	931	G	R931G	Likely pathogenic	1	1	22	132
MUT:SCN1A:Arg931His	PROT:P35498	SCN1A	R	931	H	R931H	Pathogenic	1	3	22	132
MUT:SCN1A:Arg931Leu	PROT:P35498	SCN1A	R	931	L	R931L	Pathogenic/Likely pathogenic	1	2	22	132
MUT:SCN1A:Arg931Pro	PROT:P35498	SCN1A	R	931	P	R931P	Pathogenic/Likely pathogenic	1	2	22	132
MUT:SCN1A:Arg931Ser	PROT:P35498	SCN1A	R	931	S	R931S	Pathogenic/Likely pathogenic	1	2	22	132
MUT:SCN1A:Arg946Cys	PROT:P35498	SCN1A	R	946	C	R946C	Pathogenic	1	3	22	117
MUT:SCN1A:Arg946His	PROT:P35498	SCN1A	R	946	H	R946H	Pathogenic/Likely pathogenic	1	5	22	117
MUT:SCN1A:Arg946Leu	PROT:P35498	SCN1A	R	946	L	R946L	Likely pathogenic	1	1	22	117
MUT:SCN1A:Arg946Pro	PROT:P35498	SCN1A	R	946	P	R946P	Pathogenic/Likely pathogenic	1	1	22	117
MUT:SCN1A:Asn1055Lys	PROT:P35498	SCN1A	N	1055	K	N1055K	Likely benign	0	1	22	8
MUT:SCN1A:Asn1056Asp	PROT:P35498	SCN1A	N	1056	D	N1056D	Likely benign	0	1	22	7
MUT:SCN1A:Asn115Lys	PROT:P35498	SCN1A	N	115	K	N115K	Pathogenic	1	2	22	27
MUT:SCN1A:Asn1195Ser	PROT:P35498	SCN1A	N	1195	S	N1195S	Likely benign	0	1	22	129
MUT:SCN1A:Asn1338Asp	PROT:P35498	SCN1A	N	1338	D	N1338D	Likely pathogenic	1	1	22	168
MUT:SCN1A:Asn1338Ser	PROT:P35498	SCN1A	N	1338	S	N1338S	Likely pathogenic	1	1	22	168
MUT:SCN1A:Asn1338Thr	PROT:P35498	SCN1A	N	1338	T	N1338T	Pathogenic	1	1	22	168
MUT:SCN1A:Asn1349Thr	PROT:P35498	SCN1A	N	1349	T	N1349T	Pathogenic	1	1	22	157
MUT:SCN1A:Asn1378Thr	PROT:P35498	SCN1A	N	1378	T	N1378T	Pathogenic/Likely pathogenic	1	1	22	128
MUT:SCN1A:Asn1417His	PROT:P35498	SCN1A	N	1417	H	N1417H	Likely pathogenic	1	1	22	89
MUT:SCN1A:Asn141Lys	PROT:P35498	SCN1A	N	141	K	N141K	Pathogenic	1	1	22	53
MUT:SCN1A:Asn1476Ile	PROT:P35498	SCN1A	N	1476	I	N1476I	Likely pathogenic	1	1	22	30
MUT:SCN1A:Asn1476Lys	PROT:P35498	SCN1A	N	1476	K	N1476K	Pathogenic	1	2	22	30
MUT:SCN1A:Asn1476Ser	PROT:P35498	SCN1A	N	1476	S	N1476S	Pathogenic	1	1	22	30
MUT:SCN1A:Asn1476Tyr	PROT:P35498	SCN1A	N	1476	Y	N1476Y	Likely pathogenic	1	1	22	30
MUT:SCN1A:Asn1485Asp	PROT:P35498	SCN1A	N	1485	D	N1485D	Pathogenic	1	1	22	21
MUT:SCN1A:Asn1485Ser	PROT:P35498	SCN1A	N	1485	S	N1485S	Likely pathogenic	1	1	22	21
MUT:SCN1A:Asn1509His	PROT:P35498	SCN1A	N	1509	H	N1509H	Likely pathogenic	1	1	22	3
MUT:SCN1A:Asn1605Ile	PROT:P35498	SCN1A	N	1605	I	N1605I	Likely pathogenic	1	1	22	79
MUT:SCN1A:Asn1672His	PROT:P35498	SCN1A	N	1672	H	N1672H	Pathogenic	1	1	22	12
MUT:SCN1A:Asn1712Asp	PROT:P35498	SCN1A	N	1712	D	N1712D	Likely pathogenic	1	1	22	18
MUT:SCN1A:Asn1712Lys	PROT:P35498	SCN1A	N	1712	K	N1712K	Likely pathogenic	1	1	22	18
MUT:SCN1A:Asn1779Ser	PROT:P35498	SCN1A	N	1779	S	N1779S	Pathogenic/Likely pathogenic	1	2	22	85
MUT:SCN1A:Asn1845Lys	PROT:P35498	SCN1A	N	1845	K	N1845K	Likely pathogenic	1	1	22	63
MUT:SCN1A:Asn191Lys	PROT:P35498	SCN1A	N	191	K	N191K	Pathogenic	1	1	22	103
MUT:SCN1A:Asn299Asp	PROT:P35498	SCN1A	N	299	D	N299D	Likely benign	0	1	22	181
MUT:SCN1A:Asn338Ser	PROT:P35498	SCN1A	N	338	S	N338S	Pathogenic	1	1	22	142
MUT:SCN1A:Asn359Lys	PROT:P35498	SCN1A	N	359	K	N359K	Likely pathogenic	1	1	22	121
MUT:SCN1A:Asn386Lys	PROT:P35498	SCN1A	N	386	K	N386K	Pathogenic	1	1	22	94
MUT:SCN1A:Asn416Lys	PROT:P35498	SCN1A	N	416	K	N416K	Pathogenic	1	2	22	64
MUT:SCN1A:Asn416Ser	PROT:P35498	SCN1A	N	416	S	N416S	Likely pathogenic	1	1	22	64
MUT:SCN1A:Asn762His	PROT:P35498	SCN1A	N	762	H	N762H	Likely benign	0	1	22	32
MUT:SCN1A:Asn804Lys	PROT:P35498	SCN1A	N	804	K	N804K	Pathogenic	1	1	22	74
MUT:SCN1A:Asn851Asp	PROT:P35498	SCN1A	N	851	D	N851D	Likely benign	0	1	22	121
MUT:SCN1A:Asn94Tyr	PROT:P35498	SCN1A	N	94	Y	N94Y	Pathogenic	1	1	22	6
MUT:SCN1A:Asn980Lys	PROT:P35498	SCN1A	N	980	K	N980K	Pathogenic	1	1	22	83
MUT:SCN1A:Asn985Lys	PROT:P35498	SCN1A	N	985	K	N985K	Likely pathogenic	1	1	22	78
MUT:SCN1A:Asn999Lys	PROT:P35498	SCN1A	N	999	K	N999K	Likely pathogenic	1	1	22	64
MUT:SCN1A:Asp1137His	PROT:P35498	SCN1A	D	1137	H	D1137H	Likely pathogenic	1	1	22	71
MUT:SCN1A:Asp1256Ala	PROT:P35498	SCN1A	D	1256	A	D1256A	Pathogenic	1	1	22	190
MUT:SCN1A:Asp1288Ala	PROT:P35498	SCN1A	D	1288	A	D1288A	Likely pathogenic	1	1	22	218
MUT:SCN1A:Asp1288Asn	PROT:P35498	SCN1A	D	1288	N	D1288N	Pathogenic/Likely pathogenic	1	1	22	218
MUT:SCN1A:Asp1288Tyr	PROT:P35498	SCN1A	D	1288	Y	D1288Y	Likely pathogenic	1	1	22	218
MUT:SCN1A:Asp1416Gly	PROT:P35498	SCN1A	D	1416	G	D1416G	Pathogenic	1	1	22	90
MUT:SCN1A:Asp1443Gly	PROT:P35498	SCN1A	D	1443	G	D1443G	Pathogenic	1	1	22	63
MUT:SCN1A:Asp1443His	PROT:P35498	SCN1A	D	1443	H	D1443H	Likely pathogenic	1	1	22	63
MUT:SCN1A:Asp1497Gly	PROT:P35498	SCN1A	D	1497	G	D1497G	Pathogenic	1	1	22	9
MUT:SCN1A:Asp1544Asn	PROT:P35498	SCN1A	D	1544	N	D1544N	Likely pathogenic	1	2	22	28
MUT:SCN1A:Asp1544Gly	PROT:P35498	SCN1A	D	1544	G	D1544G	Pathogenic	1	1	22	28
MUT:SCN1A:Asp1608Tyr	PROT:P35498	SCN1A	D	1608	Y	D1608Y	Pathogenic/Likely pathogenic	1	2	22	76
MUT:SCN1A:Asp1702Glu	PROT:P35498	SCN1A	D	1702	E	D1702E	Pathogenic	1	1	22	8
MUT:SCN1A:Asp1703Tyr	PROT:P35498	SCN1A	D	1703	Y	D1703Y	Likely pathogenic	1	1	22	9
MUT:SCN1A:Asp1703Val	PROT:P35498	SCN1A	D	1703	V	D1703V	Pathogenic	1	1	22	9
MUT:SCN1A:Asp1727Gly	PROT:P35498	SCN1A	D	1727	G	D1727G	Pathogenic/Likely pathogenic	1	1	22	33
MUT:SCN1A:Asp1727His	PROT:P35498	SCN1A	D	1727	H	D1727H	Pathogenic	1	1	22	33
MUT:SCN1A:Asp1727Tyr	PROT:P35498	SCN1A	D	1727	Y	D1727Y	Likely pathogenic	1	1	22	33
MUT:SCN1A:Asp1740His	PROT:P35498	SCN1A	D	1740	H	D1740H	Likely pathogenic	1	2	22	46
MUT:SCN1A:Asp1742Ala	PROT:P35498	SCN1A	D	1742	A	D1742A	Likely pathogenic	1	1	22	48
MUT:SCN1A:Asp1742Asn	PROT:P35498	SCN1A	D	1742	N	D1742N	Likely pathogenic	1	1	22	48
MUT:SCN1A:Asp1742Tyr	PROT:P35498	SCN1A	D	1742	Y	D1742Y	Likely pathogenic	1	1	22	48
MUT:SCN1A:Asp1755Gly	PROT:P35498	SCN1A	D	1755	G	D1755G	Pathogenic	1	1	22	61
MUT:SCN1A:Asp1755His	PROT:P35498	SCN1A	D	1755	H	D1755H	Likely pathogenic	1	1	22	61
MUT:SCN1A:Asp1755Tyr	PROT:P35498	SCN1A	D	1755	Y	D1755Y	Pathogenic/Likely pathogenic	1	2	22	61
MUT:SCN1A:Asp1866Gly	PROT:P35498	SCN1A	D	1866	G	D1866G	Likely pathogenic	1	1	22	42
MUT:SCN1A:Asp1866Val	PROT:P35498	SCN1A	D	1866	V	D1866V	Likely pathogenic	1	1	22	42
MUT:SCN1A:Asp188Tyr	PROT:P35498	SCN1A	D	188	Y	D188Y	Likely pathogenic	1	1	22	100
MUT:SCN1A:Asp188Val	PROT:P35498	SCN1A	D	188	V	D188V	Likely pathogenic	1	3	22	100
MUT:SCN1A:Asp194Asn	PROT:P35498	SCN1A	D	194	N	D194N	Pathogenic/Likely pathogenic	1	5	22	106
MUT:SCN1A:Asp194Tyr	PROT:P35498	SCN1A	D	194	Y	D194Y	Pathogenic	1	1	22	106
MUT:SCN1A:Asp249Glu	PROT:P35498	SCN1A	D	249	E	D249E	Pathogenic	1	1	22	161
MUT:SCN1A:Asp320Asn	PROT:P35498	SCN1A	D	320	N	D320N	Likely benign	0	1	22	160
MUT:SCN1A:Asp320Gly	PROT:P35498	SCN1A	D	320	G	D320G	Likely pathogenic	1	1	22	160
MUT:SCN1A:Asp366His	PROT:P35498	SCN1A	D	366	H	D366H	Pathogenic/Likely pathogenic	1	1	22	114
MUT:SCN1A:Asp382Asn	PROT:P35498	SCN1A	D	382	N	D382N	Pathogenic	1	1	22	98
MUT:SCN1A:Asp382Glu	PROT:P35498	SCN1A	D	382	E	D382E	Pathogenic	1	2	22	98
MUT:SCN1A:Asp45Glu	PROT:P35498	SCN1A	D	45	E	D45E	Likely benign	0	1	22	43
MUT:SCN1A:Asp518Glu	PROT:P35498	SCN1A	D	518	E	D518E	Benign	0	1	22	5
MUT:SCN1A:Asp79Ala	PROT:P35498	SCN1A	D	79	A	D79A	Likely pathogenic	1	1	22	9
MUT:SCN1A:Asp79Glu	PROT:P35498	SCN1A	D	79	E	D79E	Likely pathogenic	1	1	22	9
MUT:SCN1A:Asp79Gly	PROT:P35498	SCN1A	D	79	G	D79G	Pathogenic	1	1	22	9
MUT:SCN1A:Asp81Glu	PROT:P35498	SCN1A	D	81	E	D81E	Likely pathogenic	1	1	22	7
MUT:SCN1A:Asp81Tyr	PROT:P35498	SCN1A	D	81	Y	D81Y	Likely pathogenic	1	1	22	7
MUT:SCN1A:Asp81Val	PROT:P35498	SCN1A	D	81	V	D81V	Likely pathogenic	1	1	22	7
MUT:SCN1A:Asp823Val	PROT:P35498	SCN1A	D	823	V	D823V	Likely pathogenic	1	1	22	93
MUT:SCN1A:Asp936Ala	PROT:P35498	SCN1A	D	936	A	D936A	Pathogenic	1	1	22	127
MUT:SCN1A:Asp936Glu	PROT:P35498	SCN1A	D	936	E	D936E	Likely pathogenic	1	1	22	127
MUT:SCN1A:Asp936Gly	PROT:P35498	SCN1A	D	936	G	D936G	Pathogenic	1	1	22	127
MUT:SCN1A:Asp936His	PROT:P35498	SCN1A	D	936	H	D936H	Likely pathogenic	1	1	22	127
MUT:SCN1A:Asp936Tyr	PROT:P35498	SCN1A	D	936	Y	D936Y	Pathogenic	1	1	22	127
MUT:SCN1A:Cys1354Gly	PROT:P35498	SCN1A	C	1354	G	C1354G	Likely pathogenic	1	1	22	152
MUT:SCN1A:Cys1354Phe	PROT:P35498	SCN1A	C	1354	F	C1354F	Pathogenic	1	1	22	152
MUT:SCN1A:Cys1376Ser	PROT:P35498	SCN1A	C	1376	S	C1376S	Likely pathogenic	1	1	22	130
MUT:SCN1A:Cys1376Tyr	PROT:P35498	SCN1A	C	1376	Y	C1376Y	Pathogenic	1	1	22	130
MUT:SCN1A:Cys1396Gly	PROT:P35498	SCN1A	C	1396	G	C1396G	Pathogenic	1	2	22	110
MUT:SCN1A:Cys1588Arg	PROT:P35498	SCN1A	C	1588	R	C1588R	Pathogenic/Likely pathogenic	1	2	22	72
MUT:SCN1A:Cys1588Ser	PROT:P35498	SCN1A	C	1588	S	C1588S	Likely pathogenic	1	1	22	72
MUT:SCN1A:Cys1588Tyr	PROT:P35498	SCN1A	C	1588	Y	C1588Y	Pathogenic/Likely pathogenic	1	2	22	72
MUT:SCN1A:Cys1716Arg	PROT:P35498	SCN1A	C	1716	R	C1716R	Pathogenic/Likely pathogenic	1	2	22	22
MUT:SCN1A:Cys1741Ser	PROT:P35498	SCN1A	C	1741	S	C1741S	Pathogenic	1	2	22	47
MUT:SCN1A:Cys1741Tyr	PROT:P35498	SCN1A	C	1741	Y	C1741Y	Pathogenic	1	2	22	47
MUT:SCN1A:Cys1756Arg	PROT:P35498	SCN1A	C	1756	R	C1756R	Pathogenic	1	1	22	62
MUT:SCN1A:Cys1756Tyr	PROT:P35498	SCN1A	C	1756	Y	C1756Y	Pathogenic	1	1	22	62
MUT:SCN1A:Cys257Arg	PROT:P35498	SCN1A	C	257	R	C257R	Pathogenic/Likely pathogenic	1	1	22	169
MUT:SCN1A:Cys277Arg	PROT:P35498	SCN1A	C	277	R	C277R	Pathogenic	1	1	22	189
MUT:SCN1A:Cys277Ser	PROT:P35498	SCN1A	C	277	S	C277S	Likely pathogenic	1	1	22	189
MUT:SCN1A:Cys277Tyr	PROT:P35498	SCN1A	C	277	Y	C277Y	Pathogenic/Likely pathogenic	1	2	22	189
MUT:SCN1A:Cys336Arg	PROT:P35498	SCN1A	C	336	R	C336R	Likely pathogenic	1	1	22	144
MUT:SCN1A:Cys336Trp	PROT:P35498	SCN1A	C	336	W	C336W	Likely pathogenic	1	1	22	144
MUT:SCN1A:Cys336Tyr	PROT:P35498	SCN1A	C	336	Y	C336Y	Pathogenic	1	2	22	144
MUT:SCN1A:Cys345Arg	PROT:P35498	SCN1A	C	345	R	C345R	Pathogenic	1	2	22	135
MUT:SCN1A:Cys345Phe	PROT:P35498	SCN1A	C	345	F	C345F	Pathogenic/Likely pathogenic	1	1	22	135
MUT:SCN1A:Cys351Gly	PROT:P35498	SCN1A	C	351	G	C351G	Likely pathogenic	1	1	22	129
MUT:SCN1A:Cys351Ser	PROT:P35498	SCN1A	C	351	S	C351S	Likely pathogenic	1	1	22	129
MUT:SCN1A:Cys927Arg	PROT:P35498	SCN1A	C	927	R	C927R	Pathogenic/Likely pathogenic	1	2	22	136
MUT:SCN1A:Cys949Phe	PROT:P35498	SCN1A	C	949	F	C949F	Pathogenic	1	1	22	114
MUT:SCN1A:Cys949Tyr	PROT:P35498	SCN1A	C	949	Y	C949Y	Pathogenic	1	2	22	114
MUT:SCN1A:Cys959Arg	PROT:P35498	SCN1A	C	959	R	C959R	Pathogenic/Likely pathogenic	1	2	22	104
MUT:SCN1A:Cys959Gly	PROT:P35498	SCN1A	C	959	G	C959G	Pathogenic	1	1	22	104
MUT:SCN1A:Cys959Tyr	PROT:P35498	SCN1A	C	959	Y	C959Y	Pathogenic	1	1	22	104
MUT:SCN1A:Cys968Phe	PROT:P35498	SCN1A	C	968	F	C968F	Pathogenic	1	1	22	95
MUT:SCN1A:Cys968Ser	PROT:P35498	SCN1A	C	968	S	C968S	Likely pathogenic	1	1	22	95
MUT:SCN1A:Cys968Trp	PROT:P35498	SCN1A	C	968	W	C968W	Likely pathogenic	1	1	22	95
MUT:SCN1A:Cys968Tyr	PROT:P35498	SCN1A	C	968	Y	C968Y	Pathogenic/Likely pathogenic	1	2	22	95
MUT:SCN1A:Gln1166Lys	PROT:P35498	SCN1A	Q	1166	K	Q1166K	Likely benign	0	1	22	100
MUT:SCN1A:Gln1427Lys	PROT:P35498	SCN1A	Q	1427	K	Q1427K	Likely pathogenic	1	1	22	79
MUT:SCN1A:Gln1489Glu	PROT:P35498	SCN1A	Q	1489	E	Q1489E	Likely pathogenic	1	1	22	17
MUT:SCN1A:Gln1489His	PROT:P35498	SCN1A	Q	1489	H	Q1489H	Pathogenic	1	2	22	17
MUT:SCN1A:Gln1489Lys	PROT:P35498	SCN1A	Q	1489	K	Q1489K	Pathogenic	1	2	22	17
MUT:SCN1A:Gln1504His	PROT:P35498	SCN1A	Q	1504	H	Q1504H	Pathogenic	1	2	22	2
MUT:SCN1A:Gln1504Lys	PROT:P35498	SCN1A	Q	1504	K	Q1504K	Pathogenic	1	1	22	2
MUT:SCN1A:Gln1719His	PROT:P35498	SCN1A	Q	1719	H	Q1719H	Pathogenic	1	1	22	25
MUT:SCN1A:Gln1821Pro	PROT:P35498	SCN1A	Q	1821	P	Q1821P	Likely pathogenic	1	1	22	87
MUT:SCN1A:Gln1914Pro	PROT:P35498	SCN1A	Q	1914	P	Q1914P	Pathogenic	1	1	22	4
MUT:SCN1A:Gln1923His	PROT:P35498	SCN1A	Q	1923	H	Q1923H	Pathogenic/Likely pathogenic	1	2	22	3
MUT:SCN1A:Gln1923Lys	PROT:P35498	SCN1A	Q	1923	K	Q1923K	Likely pathogenic	1	1	22	3
MUT:SCN1A:Gln1923Pro	PROT:P35498	SCN1A	Q	1923	P	Q1923P	Likely pathogenic	1	1	22	3
MUT:SCN1A:Gln242Arg	PROT:P35498	SCN1A	Q	242	R	Q242R	Likely pathogenic	1	1	22	154
MUT:SCN1A:Gln381Arg	PROT:P35498	SCN1A	Q	381	R	Q381R	Pathogenic	1	1	22	99
MUT:SCN1A:Gln459Arg	PROT:P35498	SCN1A	Q	459	R	Q459R	Likely pathogenic	1	1	22	21
MUT:SCN1A:Gln910Arg	PROT:P35498	SCN1A	Q	910	R	Q910R	Pathogenic/Likely pathogenic	1	1	22	153
MUT:SCN1A:Gln910Leu	PROT:P35498	SCN1A	Q	910	L	Q910L	Pathogenic	1	1	22	153
MUT:SCN1A:Gln910Lys	PROT:P35498	SCN1A	Q	910	K	Q910K	Pathogenic	1	1	22	153
MUT:SCN1A:Glu1216Gln	PROT:P35498	SCN1A	E	1216	Q	E1216Q	Pathogenic	1	1	22	150
MUT:SCN1A:Glu1221Asp	PROT:P35498	SCN1A	E	1221	D	E1221D	Likely pathogenic	1	1	22	155
MUT:SCN1A:Glu1221Gln	PROT:P35498	SCN1A	E	1221	Q	E1221Q	Pathogenic	1	2	22	155
MUT:SCN1A:Glu1221Gly	PROT:P35498	SCN1A	E	1221	G	E1221G	Likely pathogenic	1	1	22	155
MUT:SCN1A:Glu1221Lys	PROT:P35498	SCN1A	E	1221	K	E1221K	Pathogenic	1	2	22	155
MUT:SCN1A:Glu1454Lys	PROT:P35498	SCN1A	E	1454	K	E1454K	Pathogenic	1	1	22	52
MUT:SCN1A:Glu1503Lys	PROT:P35498	SCN1A	E	1503	K	E1503K	Pathogenic	1	1	22	3
MUT:SCN1A:Glu1561Gly	PROT:P35498	SCN1A	E	1561	G	E1561G	Likely pathogenic	1	1	22	45
MUT:SCN1A:Glu1561Lys	PROT:P35498	SCN1A	E	1561	K	E1561K	Likely pathogenic	1	1	22	45
MUT:SCN1A:Glu1587Gln	PROT:P35498	SCN1A	E	1587	Q	E1587Q	Likely pathogenic	1	1	22	71
MUT:SCN1A:Glu1623Gln	PROT:P35498	SCN1A	E	1623	Q	E1623Q	Likely pathogenic	1	1	22	61
MUT:SCN1A:Glu1708Lys	PROT:P35498	SCN1A	E	1708	K	E1708K	Pathogenic	1	1	22	14
MUT:SCN1A:Glu1878Asn	PROT:P35498	SCN1A	E	1878	N	E1878N	Likely benign	0	1	22	30
MUT:SCN1A:Glu289Val	PROT:P35498	SCN1A	E	289	V	E289V	Pathogenic	1	1	22	191
MUT:SCN1A:Glu307Lys	PROT:P35498	SCN1A	E	307	K	E307K	Likely benign	0	1	22	173
MUT:SCN1A:Glu311Gly	PROT:P35498	SCN1A	E	311	G	E311G	Likely benign	0	1	22	169
MUT:SCN1A:Glu385Ala	PROT:P35498	SCN1A	E	385	A	E385A	Likely pathogenic	1	1	22	95
MUT:SCN1A:Glu385Gln	PROT:P35498	SCN1A	E	385	Q	E385Q	Pathogenic	1	1	22	95
MUT:SCN1A:Glu385Lys	PROT:P35498	SCN1A	E	385	K	E385K	Pathogenic	1	1	22	95
MUT:SCN1A:Glu517Gly	PROT:P35498	SCN1A	E	517	G	E517G	Likely benign	0	1	22	6
MUT:SCN1A:Glu616Asp	PROT:P35498	SCN1A	E	616	D	E616D	Pathogenic	1	1	22	9
MUT:SCN1A:Glu788Gly	PROT:P35498	SCN1A	E	788	G	E788G	Likely pathogenic	1	1	22	58
MUT:SCN1A:Glu788Lys	PROT:P35498	SCN1A	E	788	K	E788K	Pathogenic	1	2	22	58
MUT:SCN1A:Glu788Val	PROT:P35498	SCN1A	E	788	V	E788V	Likely pathogenic	1	1	22	58
MUT:SCN1A:Glu78Lys	PROT:P35498	SCN1A	E	78	K	E78K	Likely pathogenic	1	1	22	10
MUT:SCN1A:Glu846Gly	PROT:P35498	SCN1A	E	846	G	E846G	Pathogenic	1	1	22	116
MUT:SCN1A:Glu951Lys	PROT:P35498	SCN1A	E	951	K	E951K	Pathogenic	1	1	22	112
MUT:SCN1A:Glu954Asp	PROT:P35498	SCN1A	E	954	D	E954D	Likely pathogenic	1	1	22	109
MUT:SCN1A:Glu954Gln	PROT:P35498	SCN1A	E	954	Q	E954Q	Likely pathogenic	1	1	22	109
MUT:SCN1A:Glu954Gly	PROT:P35498	SCN1A	E	954	G	E954G	Likely pathogenic	1	1	22	109
MUT:SCN1A:Glu954Lys	PROT:P35498	SCN1A	E	954	K	E954K	Pathogenic	1	2	22	109
MUT:SCN1A:Glu954Val	PROT:P35498	SCN1A	E	954	V	E954V	Pathogenic	1	1	22	109
MUT:SCN1A:Gly1081Arg	PROT:P35498	SCN1A	G	1081	R	G1081R	Likely pathogenic	1	1	22	15
MUT:SCN1A:Gly1233Arg	PROT:P35498	SCN1A	G	1233	R	G1233R	Pathogenic	1	2	22	167
MUT:SCN1A:Gly1275Asp	PROT:P35498	SCN1A	G	1275	D	G1275D	Pathogenic/Likely pathogenic	1	1	22	209
MUT:SCN1A:Gly1310Glu	PROT:P35498	SCN1A	G	1310	E	G1310E	Pathogenic	1	1	22	196
MUT:SCN1A:Gly1365Asp	PROT:P35498	SCN1A	G	1365	D	G1365D	Pathogenic/Likely pathogenic	1	2	22	141
MUT:SCN1A:Gly1371Asp	PROT:P35498	SCN1A	G	1371	D	G1371D	Pathogenic/Likely pathogenic	1	2	22	135
MUT:SCN1A:Gly1371Ser	PROT:P35498	SCN1A	G	1371	S	G1371S	Likely pathogenic	1	1	22	135
MUT:SCN1A:Gly1371Val	PROT:P35498	SCN1A	G	1371	V	G1371V	Likely pathogenic	1	1	22	135
MUT:SCN1A:Gly1419Val	PROT:P35498	SCN1A	G	1419	V	G1419V	Likely pathogenic	1	1	22	87
MUT:SCN1A:Gly1421Trp	PROT:P35498	SCN1A	G	1421	W	G1421W	Likely pathogenic	1	1	22	85
MUT:SCN1A:Gly1433Glu	PROT:P35498	SCN1A	G	1433	E	G1433E	Pathogenic/Likely pathogenic	1	2	22	73
MUT:SCN1A:Gly1480Val	PROT:P35498	SCN1A	G	1480	V	G1480V	Pathogenic	1	2	22	26
MUT:SCN1A:Gly1494Glu	PROT:P35498	SCN1A	G	1494	E	G1494E	Pathogenic	1	1	22	12
MUT:SCN1A:Gly1586Glu	PROT:P35498	SCN1A	G	1586	E	G1586E	Pathogenic	1	2	22	70
MUT:SCN1A:Gly1618Arg	PROT:P35498	SCN1A	G	1618	R	G1618R	Pathogenic	1	1	22	66
MUT:SCN1A:Gly1618Ser	PROT:P35498	SCN1A	G	1618	S	G1618S	Likely pathogenic	1	1	22	66
MUT:SCN1A:Gly163Glu	PROT:P35498	SCN1A	G	163	E	G163E	Pathogenic	1	1	22	75
MUT:SCN1A:Gly1644Asp	PROT:P35498	SCN1A	G	1644	D	G1644D	Pathogenic/Likely pathogenic	1	1	22	40
MUT:SCN1A:Gly1655Ala	PROT:P35498	SCN1A	G	1655	A	G1655A	Likely pathogenic	1	1	22	29
MUT:SCN1A:Gly1655Arg	PROT:P35498	SCN1A	G	1655	R	G1655R	Likely pathogenic	1	1	22	29
MUT:SCN1A:Gly1655Trp	PROT:P35498	SCN1A	G	1655	W	G1655W	Likely pathogenic	1	1	22	29
MUT:SCN1A:Gly1674Ser	PROT:P35498	SCN1A	G	1674	S	G1674S	Pathogenic/Likely pathogenic	1	1	22	10
MUT:SCN1A:Gly1688Val	PROT:P35498	SCN1A	G	1688	V	G1688V	Pathogenic	1	1	22	4
MUT:SCN1A:Gly1725Asp	PROT:P35498	SCN1A	G	1725	D	G1725D	Likely pathogenic	1	1	22	31
MUT:SCN1A:Gly1725Ser	PROT:P35498	SCN1A	G	1725	S	G1725S	Likely pathogenic	1	2	22	31
MUT:SCN1A:Gly1728Arg	PROT:P35498	SCN1A	G	1728	R	G1728R	Likely pathogenic	1	1	22	34
MUT:SCN1A:Gly1728Glu	PROT:P35498	SCN1A	G	1728	E	G1728E	Pathogenic	1	1	22	34
MUT:SCN1A:Gly1749Arg	PROT:P35498	SCN1A	G	1749	R	G1749R	Pathogenic/Likely pathogenic	1	1	22	55
MUT:SCN1A:Gly1754Ala	PROT:P35498	SCN1A	G	1754	A	G1754A	Pathogenic	1	1	22	60
MUT:SCN1A:Gly1754Glu	PROT:P35498	SCN1A	G	1754	E	G1754E	Pathogenic/Likely pathogenic	1	2	22	60
MUT:SCN1A:Gly1757Arg	PROT:P35498	SCN1A	G	1757	R	G1757R	Pathogenic	1	2	22	63
MUT:SCN1A:Gly1757Glu	PROT:P35498	SCN1A	G	1757	E	G1757E	Pathogenic/Likely pathogenic	1	1	22	63
MUT:SCN1A:Gly1762Glu	PROT:P35498	SCN1A	G	1762	E	G1762E	Pathogenic	1	1	22	68
MUT:SCN1A:Gly177Ala	PROT:P35498	SCN1A	G	177	A	G177A	Pathogenic	1	2	22	89
MUT:SCN1A:Gly177Glu	PROT:P35498	SCN1A	G	177	E	G177E	Pathogenic	1	2	22	89
MUT:SCN1A:Gly177Val	PROT:P35498	SCN1A	G	177	V	G177V	Pathogenic	1	1	22	89
MUT:SCN1A:Gly210Asp	PROT:P35498	SCN1A	G	210	D	G210D	Likely pathogenic	1	2	22	122
MUT:SCN1A:Gly238Val	PROT:P35498	SCN1A	G	238	V	G238V	Pathogenic	1	1	22	150
MUT:SCN1A:Gly271Asp	PROT:P35498	SCN1A	G	271	D	G271D	Pathogenic	1	1	22	183
MUT:SCN1A:Gly271Ser	PROT:P35498	SCN1A	G	271	S	G271S	Pathogenic/Likely pathogenic	1	1	22	183
MUT:SCN1A:Gly271Val	PROT:P35498	SCN1A	G	271	V	G271V	Pathogenic/Likely pathogenic	1	2	22	183
MUT:SCN1A:Gly329Ala	PROT:P35498	SCN1A	G	329	A	G329A	Pathogenic/Likely pathogenic	1	2	22	151
MUT:SCN1A:Gly329Asp	PROT:P35498	SCN1A	G	329	D	G329D	Likely pathogenic	1	1	22	151
MUT:SCN1A:Gly329Cys	PROT:P35498	SCN1A	G	329	C	G329C	Pathogenic/Likely pathogenic	1	4	22	151
MUT:SCN1A:Gly329Ser	PROT:P35498	SCN1A	G	329	S	G329S	Likely pathogenic	1	1	22	151
MUT:SCN1A:Gly329Val	PROT:P35498	SCN1A	G	329	V	G329V	Pathogenic/Likely pathogenic	1	2	22	151
MUT:SCN1A:Gly337Ala	PROT:P35498	SCN1A	G	337	A	G337A	Pathogenic	1	1	22	143
MUT:SCN1A:Gly343Ala	PROT:P35498	SCN1A	G	343	A	G343A	Likely pathogenic	1	1	22	137
MUT:SCN1A:Gly343Arg	PROT:P35498	SCN1A	G	343	R	G343R	Pathogenic	1	1	22	137
MUT:SCN1A:Gly343Asp	PROT:P35498	SCN1A	G	343	D	G343D	Pathogenic/Likely pathogenic	1	2	22	137
MUT:SCN1A:Gly343Cys	PROT:P35498	SCN1A	G	343	C	G343C	Pathogenic	1	1	22	137
MUT:SCN1A:Gly355Asp	PROT:P35498	SCN1A	G	355	D	G355D	Pathogenic	1	1	22	125
MUT:SCN1A:Gly361Cys	PROT:P35498	SCN1A	G	361	C	G361C	Pathogenic	1	1	22	119
MUT:SCN1A:Gly361Ser	PROT:P35498	SCN1A	G	361	S	G361S	Likely pathogenic	1	1	22	119
MUT:SCN1A:Gly361Val	PROT:P35498	SCN1A	G	361	V	G361V	Likely pathogenic	1	1	22	119
MUT:SCN1A:Gly396Arg	PROT:P35498	SCN1A	G	396	R	G396R	Pathogenic	1	2	22	84
MUT:SCN1A:Gly396Glu	PROT:P35498	SCN1A	G	396	E	G396E	Pathogenic	1	1	22	84
MUT:SCN1A:Gly410Val	PROT:P35498	SCN1A	G	410	V	G410V	Likely pathogenic	1	1	22	70
MUT:SCN1A:Gly585Ala	PROT:P35498	SCN1A	G	585	A	G585A	Likely benign	0	1	22	9
MUT:SCN1A:Gly58Arg	PROT:P35498	SCN1A	G	58	R	G58R	Pathogenic	1	1	22	30
MUT:SCN1A:Gly58Val	PROT:P35498	SCN1A	G	58	V	G58V	Likely pathogenic	1	1	22	30
MUT:SCN1A:Gly854Glu	PROT:P35498	SCN1A	G	854	E	G854E	Pathogenic	1	1	22	124
MUT:SCN1A:Gly891Arg	PROT:P35498	SCN1A	G	891	R	G891R	Likely pathogenic	1	1	22	161
MUT:SCN1A:Gly891Glu	PROT:P35498	SCN1A	G	891	E	G891E	Pathogenic	1	1	22	161
MUT:SCN1A:Gly950Arg	PROT:P35498	SCN1A	G	950	R	G950R	Pathogenic	1	1	22	113
MUT:SCN1A:Gly950Glu	PROT:P35498	SCN1A	G	950	E	G950E	Pathogenic	1	1	22	113
MUT:SCN1A:Gly979Arg	PROT:P35498	SCN1A	G	979	R	G979R	Pathogenic	1	2	22	84
MUT:SCN1A:Gly979Glu	PROT:P35498	SCN1A	G	979	E	G979E	Pathogenic	1	2	22	84
MUT:SCN1A:His127Leu	PROT:P35498	SCN1A	H	127	L	H127L	Pathogenic	1	1	22	39
MUT:SCN1A:His127Tyr	PROT:P35498	SCN1A	H	127	Y	H127Y	Pathogenic/Likely pathogenic	1	2	22	39
MUT:SCN1A:His1375Pro	PROT:P35498	SCN1A	H	1375	P	H1375P	Likely pathogenic	1	2	22	131
MUT:SCN1A:His1393Pro	PROT:P35498	SCN1A	H	1393	P	H1393P	Pathogenic	1	1	22	113
MUT:SCN1A:His1997Arg	PROT:P35498	SCN1A	H	1997	R	H1997R	Likely benign	0	1	22	63
MUT:SCN1A:His324Asn	PROT:P35498	SCN1A	H	324	N	H324N	Pathogenic	1	1	22	156
MUT:SCN1A:His789Leu	PROT:P35498	SCN1A	H	789	L	H789L	Pathogenic	1	1	22	59
MUT:SCN1A:His933Tyr	PROT:P35498	SCN1A	H	933	Y	H933Y	Pathogenic/Likely pathogenic	1	1	22	130
MUT:SCN1A:His939Asp	PROT:P35498	SCN1A	H	939	D	H939D	Likely pathogenic	1	1	22	124
MUT:SCN1A:His939Tyr	PROT:P35498	SCN1A	H	939	Y	H939Y	Pathogenic/Likely pathogenic	1	1	22	124
MUT:SCN1A:Ile1034Thr	PROT:P35498	SCN1A	I	1034	T	I1034T	Benign/Likely benign	0	3	22	29
MUT:SCN1A:Ile1214Lys	PROT:P35498	SCN1A	I	1214	K	I1214K	Pathogenic	1	1	22	148
MUT:SCN1A:Ile1347Asn	PROT:P35498	SCN1A	I	1347	N	I1347N	Likely pathogenic	1	2	22	159
MUT:SCN1A:Ile1347Phe	PROT:P35498	SCN1A	I	1347	F	I1347F	Likely pathogenic	1	1	22	159
MUT:SCN1A:Ile1347Thr	PROT:P35498	SCN1A	I	1347	T	I1347T	Pathogenic/Likely pathogenic	1	1	22	159
MUT:SCN1A:Ile1347Val	PROT:P35498	SCN1A	I	1347	V	I1347V	Pathogenic	1	1	22	159
MUT:SCN1A:Ile1363Asn	PROT:P35498	SCN1A	I	1363	N	I1363N	Pathogenic	1	1	22	143
MUT:SCN1A:Ile138Ser	PROT:P35498	SCN1A	I	138	S	I138S	Pathogenic/Likely pathogenic	1	2	22	50
MUT:SCN1A:Ile138Val	PROT:P35498	SCN1A	I	138	V	I138V	Likely pathogenic	1	1	22	50
MUT:SCN1A:Ile1437Lys	PROT:P35498	SCN1A	I	1437	K	I1437K	Likely pathogenic	1	1	22	69
MUT:SCN1A:Ile1465Val	PROT:P35498	SCN1A	I	1465	V	I1465V	Benign	0	2	22	41
MUT:SCN1A:Ile1482Asn	PROT:P35498	SCN1A	I	1482	N	I1482N	Pathogenic	1	1	22	24
MUT:SCN1A:Ile1482Leu	PROT:P35498	SCN1A	I	1482	L	I1482L	Likely pathogenic	1	1	22	24
MUT:SCN1A:Ile1483Met	PROT:P35498	SCN1A	I	1483	M	I1483M	Pathogenic	1	1	22	23
MUT:SCN1A:Ile1498Thr	PROT:P35498	SCN1A	I	1498	T	I1498T	Likely pathogenic	1	2	22	8
MUT:SCN1A:Ile1545Lys	PROT:P35498	SCN1A	I	1545	K	I1545K	Likely pathogenic	1	1	22	29
MUT:SCN1A:Ile1545Thr	PROT:P35498	SCN1A	I	1545	T	I1545T	Likely pathogenic	1	1	22	29
MUT:SCN1A:Ile1545Val	PROT:P35498	SCN1A	I	1545	V	I1545V	Pathogenic	1	3	22	29
MUT:SCN1A:Ile1593Asn	PROT:P35498	SCN1A	I	1593	N	I1593N	Likely pathogenic	1	1	22	77
MUT:SCN1A:Ile1616Thr	PROT:P35498	SCN1A	I	1616	T	I1616T	Pathogenic/Likely pathogenic	1	1	22	68
MUT:SCN1A:Ile1638Asn	PROT:P35498	SCN1A	I	1638	N	I1638N	Pathogenic/Likely pathogenic	1	1	22	46
MUT:SCN1A:Ile1646Asn	PROT:P35498	SCN1A	I	1646	N	I1646N	Likely pathogenic	1	1	22	38
MUT:SCN1A:Ile1656Met	PROT:P35498	SCN1A	I	1656	M	I1656M	Pathogenic	1	4	22	28
MUT:SCN1A:Ile1673Thr	PROT:P35498	SCN1A	I	1673	T	I1673T	Pathogenic/Likely pathogenic	1	1	22	11
MUT:SCN1A:Ile1673Val	PROT:P35498	SCN1A	I	1673	V	I1673V	Likely pathogenic	1	1	22	11
MUT:SCN1A:Ile1683Thr	PROT:P35498	SCN1A	I	1683	T	I1683T	Pathogenic	1	1	22	1
MUT:SCN1A:Ile173Asn	PROT:P35498	SCN1A	I	173	N	I173N	Pathogenic/Likely pathogenic	1	1	22	85
MUT:SCN1A:Ile173Phe	PROT:P35498	SCN1A	I	173	F	I173F	Pathogenic	1	1	22	85
MUT:SCN1A:Ile1770Asn	PROT:P35498	SCN1A	I	1770	N	I1770N	Pathogenic	1	1	22	76
MUT:SCN1A:Ile1770Phe	PROT:P35498	SCN1A	I	1770	F	I1770F	Likely pathogenic	1	1	22	76
MUT:SCN1A:Ile1771Ser	PROT:P35498	SCN1A	I	1771	S	I1771S	Pathogenic	1	1	22	77
MUT:SCN1A:Ile1782Leu	PROT:P35498	SCN1A	I	1782	L	I1782L	Pathogenic	1	1	22	88
MUT:SCN1A:Ile1782Met	PROT:P35498	SCN1A	I	1782	M	I1782M	Pathogenic	1	1	22	88
MUT:SCN1A:Ile1782Val	PROT:P35498	SCN1A	I	1782	V	I1782V	Likely pathogenic	1	1	22	88
MUT:SCN1A:Ile1867Asn	PROT:P35498	SCN1A	I	1867	N	I1867N	Likely pathogenic	1	1	22	41
MUT:SCN1A:Ile1867Thr	PROT:P35498	SCN1A	I	1867	T	I1867T	Pathogenic/Likely pathogenic	1	1	22	41
MUT:SCN1A:Ile1922Ser	PROT:P35498	SCN1A	I	1922	S	I1922S	Pathogenic	1	1	22	4
MUT:SCN1A:Ile1922Thr	PROT:P35498	SCN1A	I	1922	T	I1922T	Pathogenic/Likely pathogenic	1	2	22	4
MUT:SCN1A:Ile1955Thr	PROT:P35498	SCN1A	I	1955	T	I1955T	Benign/Likely benign	0	3	22	21
MUT:SCN1A:Ile227Ser	PROT:P35498	SCN1A	I	227	S	I227S	Pathogenic	1	2	22	139
MUT:SCN1A:Ile227Thr	PROT:P35498	SCN1A	I	227	T	I227T	Pathogenic/Likely pathogenic	1	1	22	139
MUT:SCN1A:Ile236Val	PROT:P35498	SCN1A	I	236	V	I236V	Likely pathogenic	1	2	22	148
MUT:SCN1A:Ile241Asn	PROT:P35498	SCN1A	I	241	N	I241N	Likely pathogenic	1	1	22	153
MUT:SCN1A:Ile252Asn	PROT:P35498	SCN1A	I	252	N	I252N	Pathogenic/Likely pathogenic	1	3	22	164
MUT:SCN1A:Ile252Leu	PROT:P35498	SCN1A	I	252	L	I252L	Likely pathogenic	1	1	22	164
MUT:SCN1A:Ile252Thr	PROT:P35498	SCN1A	I	252	T	I252T	Pathogenic	1	1	22	164
MUT:SCN1A:Ile278Lys	PROT:P35498	SCN1A	I	278	K	I278K	Likely pathogenic	1	1	22	190
MUT:SCN1A:Ile407Asn	PROT:P35498	SCN1A	I	407	N	I407N	Likely pathogenic	1	1	22	73
MUT:SCN1A:Ile415Lys	PROT:P35498	SCN1A	I	415	K	I415K	Pathogenic/Likely pathogenic	1	1	22	65
MUT:SCN1A:Ile415Thr	PROT:P35498	SCN1A	I	415	T	I415T	Likely pathogenic	1	1	22	65
MUT:SCN1A:Ile538Thr	PROT:P35498	SCN1A	I	538	T	I538T	Likely benign	0	1	22	10
MUT:SCN1A:Ile68Ser	PROT:P35498	SCN1A	I	68	S	I68S	Likely pathogenic	1	1	22	20
MUT:SCN1A:Ile810Asn	PROT:P35498	SCN1A	I	810	N	I810N	Pathogenic	1	1	22	80
MUT:SCN1A:Ile91Thr	PROT:P35498	SCN1A	I	91	T	I91T	Pathogenic	1	3	22	3
MUT:SCN1A:Ile953Met	PROT:P35498	SCN1A	I	953	M	I953M	Pathogenic	1	1	22	110
MUT:SCN1A:Ile978Thr	PROT:P35498	SCN1A	I	978	T	I978T	Likely pathogenic	1	1	22	85
MUT:SCN1A:Ile99Val	PROT:P35498	SCN1A	I	99	V	I99V	Likely pathogenic	1	1	22	11
MUT:SCN1A:Leu108Gln	PROT:P35498	SCN1A	L	108	Q	L108Q	Likely pathogenic	1	1	22	20
MUT:SCN1A:Leu108Pro	PROT:P35498	SCN1A	L	108	P	L108P	Pathogenic	1	1	22	20
MUT:SCN1A:Leu117Pro	PROT:P35498	SCN1A	L	117	P	L117P	Pathogenic/Likely pathogenic	1	2	22	29
MUT:SCN1A:Leu1207Pro	PROT:P35498	SCN1A	L	1207	P	L1207P	Pathogenic/Likely pathogenic	1	2	22	141
MUT:SCN1A:Leu1230Phe	PROT:P35498	SCN1A	L	1230	F	L1230F	Pathogenic	1	1	22	164
MUT:SCN1A:Leu1230Pro	PROT:P35498	SCN1A	L	1230	P	L1230P	Pathogenic	1	1	22	164
MUT:SCN1A:Leu1265Met	PROT:P35498	SCN1A	L	1265	M	L1265M	Likely pathogenic	1	1	22	199
MUT:SCN1A:Leu1268Arg	PROT:P35498	SCN1A	L	1268	R	L1268R	Pathogenic	1	1	22	202
MUT:SCN1A:Leu1287Pro	PROT:P35498	SCN1A	L	1287	P	L1287P	Pathogenic	1	2	22	219
MUT:SCN1A:Leu1309His	PROT:P35498	SCN1A	L	1309	H	L1309H	Pathogenic	1	1	22	197
MUT:SCN1A:Leu1309Pro	PROT:P35498	SCN1A	L	1309	P	L1309P	Likely pathogenic	1	1	22	197
MUT:SCN1A:Leu1309Val	PROT:P35498	SCN1A	L	1309	V	L1309V	Likely pathogenic	1	1	22	197
MUT:SCN1A:Leu1318Arg	PROT:P35498	SCN1A	L	1318	R	L1318R	Likely pathogenic	1	1	22	188
MUT:SCN1A:Leu1324Pro	PROT:P35498	SCN1A	L	1324	P	L1324P	Pathogenic	1	1	22	182
MUT:SCN1A:Leu133Pro	PROT:P35498	SCN1A	L	133	P	L133P	Pathogenic	1	1	22	45
MUT:SCN1A:Leu133Val	PROT:P35498	SCN1A	L	133	V	L133V	Likely benign	0	1	22	45
MUT:SCN1A:Leu1340Pro	PROT:P35498	SCN1A	L	1340	P	L1340P	Likely pathogenic	1	1	22	166
MUT:SCN1A:Leu1351Phe	PROT:P35498	SCN1A	L	1351	F	L1351F	Pathogenic/Likely pathogenic	1	2	22	155
MUT:SCN1A:Leu1352Pro	PROT:P35498	SCN1A	L	1352	P	L1352P	Pathogenic/Likely pathogenic	1	3	22	154
MUT:SCN1A:Leu1355Arg	PROT:P35498	SCN1A	L	1355	R	L1355R	Likely pathogenic	1	1	22	151
MUT:SCN1A:Leu1399Arg	PROT:P35498	SCN1A	L	1399	R	L1399R	Likely pathogenic	1	1	22	107
MUT:SCN1A:Leu1399Pro	PROT:P35498	SCN1A	L	1399	P	L1399P	Pathogenic	1	1	22	107
MUT:SCN1A:Leu139Phe	PROT:P35498	SCN1A	L	139	F	L139F	Likely pathogenic	1	1	22	51
MUT:SCN1A:Leu1423Phe	PROT:P35498	SCN1A	L	1423	F	L1423F	Pathogenic/Likely pathogenic	1	1	22	83
MUT:SCN1A:Leu1423Val	PROT:P35498	SCN1A	L	1423	V	L1423V	Pathogenic	1	1	22	83
MUT:SCN1A:Leu1475Val	PROT:P35498	SCN1A	L	1475	V	L1475V	Pathogenic	1	1	22	31
MUT:SCN1A:Leu1514Ile	PROT:P35498	SCN1A	L	1514	I	L1514I	Likely pathogenic	1	1	22	2
MUT:SCN1A:Leu1590Pro	PROT:P35498	SCN1A	L	1590	P	L1590P	Pathogenic	1	1	22	74
MUT:SCN1A:Leu1621Pro	PROT:P35498	SCN1A	L	1621	P	L1621P	Pathogenic/Likely pathogenic	1	2	22	63
MUT:SCN1A:Leu1624Pro	PROT:P35498	SCN1A	L	1624	P	L1624P	Likely pathogenic	1	1	22	60
MUT:SCN1A:Leu1640Arg	PROT:P35498	SCN1A	L	1640	R	L1640R	Pathogenic	1	1	22	44
MUT:SCN1A:Leu1659Pro	PROT:P35498	SCN1A	L	1659	P	L1659P	Pathogenic/Likely pathogenic	1	1	22	25
MUT:SCN1A:Leu1660Pro	PROT:P35498	SCN1A	L	1660	P	L1660P	Pathogenic	1	1	22	24
MUT:SCN1A:Leu1667Pro	PROT:P35498	SCN1A	L	1667	P	L1667P	Pathogenic/Likely pathogenic	1	1	22	17
MUT:SCN1A:Leu1675Phe	PROT:P35498	SCN1A	L	1675	F	L1675F	Likely pathogenic	1	1	22	9
MUT:SCN1A:Leu1677Phe	PROT:P35498	SCN1A	L	1677	F	L1677F	Pathogenic	1	1	22	7
MUT:SCN1A:Leu1679Pro	PROT:P35498	SCN1A	L	1679	P	L1679P	Likely pathogenic	1	1	22	5
MUT:SCN1A:Leu1717Arg	PROT:P35498	SCN1A	L	1717	R	L1717R	Pathogenic	1	1	22	23
MUT:SCN1A:Leu1775Pro	PROT:P35498	SCN1A	L	1775	P	L1775P	Pathogenic	1	1	22	81
MUT:SCN1A:Leu1800Arg	PROT:P35498	SCN1A	L	1800	R	L1800R	Pathogenic	1	1	22	106
MUT:SCN1A:Leu1835Phe	PROT:P35498	SCN1A	L	1835	F	L1835F	Pathogenic	1	1	22	73
MUT:SCN1A:Leu1839Val	PROT:P35498	SCN1A	L	1839	V	L1839V	Pathogenic/Likely pathogenic	1	1	22	69
MUT:SCN1A:Leu1849Pro	PROT:P35498	SCN1A	L	1849	P	L1849P	Likely pathogenic	1	1	22	59
MUT:SCN1A:Leu209Arg	PROT:P35498	SCN1A	L	209	R	L209R	Likely pathogenic	1	1	22	121
MUT:SCN1A:Leu209Pro	PROT:P35498	SCN1A	L	209	P	L209P	Pathogenic	1	1	22	121
MUT:SCN1A:Leu221Pro	PROT:P35498	SCN1A	L	221	P	L221P	Pathogenic/Likely pathogenic	1	1	22	133
MUT:SCN1A:Leu224Ser	PROT:P35498	SCN1A	L	224	S	L224S	Pathogenic	1	1	22	136
MUT:SCN1A:Leu224Trp	PROT:P35498	SCN1A	L	224	W	L224W	Pathogenic	1	1	22	136
MUT:SCN1A:Leu240Pro	PROT:P35498	SCN1A	L	240	P	L240P	Likely pathogenic	1	1	22	152
MUT:SCN1A:Leu247Pro	PROT:P35498	SCN1A	L	247	P	L247P	Pathogenic	1	1	22	159
MUT:SCN1A:Leu253Pro	PROT:P35498	SCN1A	L	253	P	L253P	Likely pathogenic	1	1	22	165
MUT:SCN1A:Leu263Pro	PROT:P35498	SCN1A	L	263	P	L263P	Likely pathogenic	1	1	22	175
MUT:SCN1A:Leu263Val	PROT:P35498	SCN1A	L	263	V	L263V	Pathogenic	1	3	22	175
MUT:SCN1A:Leu266Pro	PROT:P35498	SCN1A	L	266	P	L266P	Likely pathogenic	1	1	22	178
MUT:SCN1A:Leu334Pro	PROT:P35498	SCN1A	L	334	P	L334P	Pathogenic	1	1	22	146
MUT:SCN1A:Leu373Ser	PROT:P35498	SCN1A	L	373	S	L373S	Pathogenic/Likely pathogenic	1	2	22	107
MUT:SCN1A:Leu378Gln	PROT:P35498	SCN1A	L	378	Q	L378Q	Likely pathogenic	1	1	22	102
MUT:SCN1A:Leu378Pro	PROT:P35498	SCN1A	L	378	P	L378P	Pathogenic	1	1	22	102
MUT:SCN1A:Leu387Pro	PROT:P35498	SCN1A	L	387	P	L387P	Likely pathogenic	1	1	22	93
MUT:SCN1A:Leu390Pro	PROT:P35498	SCN1A	L	390	P	L390P	Pathogenic/Likely pathogenic	1	1	22	90
MUT:SCN1A:Leu405Ser	PROT:P35498	SCN1A	L	405	S	L405S	Likely pathogenic	1	1	22	75
MUT:SCN1A:Leu479Ile	PROT:P35498	SCN1A	L	479	I	L479I	Likely benign	0	1	22	1
MUT:SCN1A:Leu61Phe	PROT:P35498	SCN1A	L	61	F	L61F	Pathogenic	1	1	22	27
MUT:SCN1A:Leu61Pro	PROT:P35498	SCN1A	L	61	P	L61P	Likely pathogenic	1	1	22	27
MUT:SCN1A:Leu632Gln	PROT:P35498	SCN1A	L	632	Q	L632Q	Likely benign	0	1	22	25
MUT:SCN1A:Leu77Pro	PROT:P35498	SCN1A	L	77	P	L77P	Pathogenic/Likely pathogenic	1	1	22	11
MUT:SCN1A:Leu842Arg	PROT:P35498	SCN1A	L	842	R	L842R	Pathogenic	1	1	22	112
MUT:SCN1A:Leu863Trp	PROT:P35498	SCN1A	L	863	W	L863W	Pathogenic	1	1	22	133
MUT:SCN1A:Leu879Arg	PROT:P35498	SCN1A	L	879	R	L879R	Likely pathogenic	1	2	22	149
MUT:SCN1A:Leu890Pro	PROT:P35498	SCN1A	L	890	P	L890P	Pathogenic	1	1	22	160
MUT:SCN1A:Leu895Pro	PROT:P35498	SCN1A	L	895	P	L895P	Pathogenic	1	1	22	165
MUT:SCN1A:Leu897Phe	PROT:P35498	SCN1A	L	897	F	L897F	Pathogenic	1	1	22	166
MUT:SCN1A:Leu897Ser	PROT:P35498	SCN1A	L	897	S	L897S	Pathogenic	1	2	22	166
MUT:SCN1A:Leu911Arg	PROT:P35498	SCN1A	L	911	R	L911R	Likely pathogenic	1	1	22	152
MUT:SCN1A:Leu93Ser	PROT:P35498	SCN1A	L	93	S	L93S	Likely pathogenic	1	1	22	5
MUT:SCN1A:Leu942Pro	PROT:P35498	SCN1A	L	942	P	L942P	Pathogenic	1	2	22	121
MUT:SCN1A:Leu981Pro	PROT:P35498	SCN1A	L	981	P	L981P	Pathogenic	1	1	22	82
MUT:SCN1A:Leu984Arg	PROT:P35498	SCN1A	L	984	R	L984R	Likely pathogenic	1	1	22	79
MUT:SCN1A:Leu984Pro	PROT:P35498	SCN1A	L	984	P	L984P	Pathogenic	1	1	22	79
MUT:SCN1A:Leu984Val	PROT:P35498	SCN1A	L	984	V	L984V	Pathogenic	1	1	22	79
MUT:SCN1A:Leu986Phe	PROT:P35498	SCN1A	L	986	F	L986F	Pathogenic	1	2	22	77
MUT:SCN1A:Leu986Val	PROT:P35498	SCN1A	L	986	V	L986V	Pathogenic	1	1	22	77
MUT:SCN1A:Leu988Arg	PROT:P35498	SCN1A	L	988	R	L988R	Likely pathogenic	1	1	22	75
MUT:SCN1A:Leu990Phe	PROT:P35498	SCN1A	L	990	F	L990F	Likely pathogenic	1	1	22	73
MUT:SCN1A:Leu991Phe	PROT:P35498	SCN1A	L	991	F	L991F	Pathogenic/Likely pathogenic	1	2	22	72
MUT:SCN1A:Leu992Met	PROT:P35498	SCN1A	L	992	M	L992M	Pathogenic	1	1	22	71
MUT:SCN1A:Lys1094Ile	PROT:P35498	SCN1A	K	1094	I	K1094I	Likely pathogenic	1	1	22	28
MUT:SCN1A:Lys1270Thr	PROT:P35498	SCN1A	K	1270	T	K1270T	Pathogenic	1	3	22	204
MUT:SCN1A:Lys1432Ile	PROT:P35498	SCN1A	K	1432	I	K1432I	Pathogenic	1	1	22	74
MUT:SCN1A:Lys1591Glu	PROT:P35498	SCN1A	K	1591	E	K1591E	Likely pathogenic	1	1	22	75
MUT:SCN1A:Lys1591Ile	PROT:P35498	SCN1A	K	1591	I	K1591I	Pathogenic	1	1	22	75
MUT:SCN1A:Lys1627Met	PROT:P35498	SCN1A	K	1627	M	K1627M	Likely pathogenic	1	1	22	57
MUT:SCN1A:Lys225Asn	PROT:P35498	SCN1A	K	225	N	K225N	Pathogenic	1	1	22	137
MUT:SCN1A:Lys225Glu	PROT:P35498	SCN1A	K	225	E	K225E	Likely pathogenic	1	1	22	137
MUT:SCN1A:Lys276Asn	PROT:P35498	SCN1A	K	276	N	K276N	Pathogenic	1	1	22	188
MUT:SCN1A:Lys276Gln	PROT:P35498	SCN1A	K	276	Q	K276Q	Pathogenic	1	1	22	188
MUT:SCN1A:Lys276Glu	PROT:P35498	SCN1A	K	276	E	K276E	Pathogenic	1	1	22	188
MUT:SCN1A:Lys758Gln	PROT:P35498	SCN1A	K	758	Q	K758Q	Pathogenic	1	1	22	28
MUT:SCN1A:Lys758Thr	PROT:P35498	SCN1A	K	758	T	K758T	Likely pathogenic	1	1	22	28
MUT:SCN1A:Met132Ile	PROT:P35498	SCN1A	M	132	I	M132I	Likely benign	0	1	22	44
MUT:SCN1A:Met1333Ile	PROT:P35498	SCN1A	M	1333	I	M1333I	Likely pathogenic	1	1	22	173
MUT:SCN1A:Met1348Ile	PROT:P35498	SCN1A	M	1348	I	M1348I	Pathogenic	1	2	22	158
MUT:SCN1A:Met1348Thr	PROT:P35498	SCN1A	M	1348	T	M1348T	Likely pathogenic	1	1	22	158
MUT:SCN1A:Met1438Thr	PROT:P35498	SCN1A	M	1438	T	M1438T	Pathogenic/Likely pathogenic	1	3	22	68
MUT:SCN1A:Met145Arg	PROT:P35498	SCN1A	M	145	R	M145R	Likely pathogenic	1	1	22	57
MUT:SCN1A:Met145Thr	PROT:P35498	SCN1A	M	145	T	M145T	Pathogenic	1	3	22	57
MUT:SCN1A:Met145Val	PROT:P35498	SCN1A	M	145	V	M145V	Pathogenic	1	1	22	57
MUT:SCN1A:Met1533Ile	PROT:P35498	SCN1A	M	1533	I	M1533I	Likely benign	0	1	22	17
MUT:SCN1A:Met1555Arg	PROT:P35498	SCN1A	M	1555	R	M1555R	Likely pathogenic	1	1	22	39
MUT:SCN1A:Met1555Leu	PROT:P35498	SCN1A	M	1555	L	M1555L	Likely pathogenic	1	1	22	39
MUT:SCN1A:Met1559Arg	PROT:P35498	SCN1A	M	1559	R	M1559R	Pathogenic	1	1	22	43
MUT:SCN1A:Met1619Val	PROT:P35498	SCN1A	M	1619	V	M1619V	Benign	0	3	22	65
MUT:SCN1A:Met1664Leu	PROT:P35498	SCN1A	M	1664	L	M1664L	Pathogenic/Likely pathogenic	1	1	22	20
MUT:SCN1A:Met1664Thr	PROT:P35498	SCN1A	M	1664	T	M1664T	Likely pathogenic	1	1	22	20
MUT:SCN1A:Met1665Ile	PROT:P35498	SCN1A	M	1665	I	M1665I	Likely pathogenic	1	1	22	19
MUT:SCN1A:Met1704Thr	PROT:P35498	SCN1A	M	1704	T	M1704T	Likely pathogenic	1	1	22	10
MUT:SCN1A:Met1714Arg	PROT:P35498	SCN1A	M	1714	R	M1714R	Pathogenic	1	1	22	20
MUT:SCN1A:Met1780Thr	PROT:P35498	SCN1A	M	1780	T	M1780T	Pathogenic	1	2	22	86
MUT:SCN1A:Met1823Thr	PROT:P35498	SCN1A	M	1823	T	M1823T	Pathogenic/Likely pathogenic	1	2	22	85
MUT:SCN1A:Met1852Thr	PROT:P35498	SCN1A	M	1852	T	M1852T	Pathogenic	1	3	22	56
MUT:SCN1A:Met1852Val	PROT:P35498	SCN1A	M	1852	V	M1852V	Likely pathogenic	1	1	22	56
MUT:SCN1A:Met1856Arg	PROT:P35498	SCN1A	M	1856	R	M1856R	Pathogenic	1	1	22	52
MUT:SCN1A:Met1Ile	PROT:P35498	SCN1A	M	1	I	M1I	Pathogenic	1	1	22	87
MUT:SCN1A:Met1Thr	PROT:P35498	SCN1A	M	1	T	M1T	Pathogenic	1	1	22	87
MUT:SCN1A:Met251Arg	PROT:P35498	SCN1A	M	251	R	M251R	Likely pathogenic	1	1	22	163
MUT:SCN1A:Met251Leu	PROT:P35498	SCN1A	M	251	L	M251L	Likely pathogenic	1	1	22	163
MUT:SCN1A:Met350Val	PROT:P35498	SCN1A	M	350	V	M350V	Pathogenic	1	1	22	130
MUT:SCN1A:Met379Lys	PROT:P35498	SCN1A	M	379	K	M379K	Pathogenic	1	1	22	101
MUT:SCN1A:Met400Lys	PROT:P35498	SCN1A	M	400	K	M400K	Pathogenic	1	1	22	80
MUT:SCN1A:Met400Thr	PROT:P35498	SCN1A	M	400	T	M400T	Pathogenic	1	1	22	80
MUT:SCN1A:Met785Arg	PROT:P35498	SCN1A	M	785	R	M785R	Pathogenic	1	1	22	55
MUT:SCN1A:Met785Ile	PROT:P35498	SCN1A	M	785	I	M785I	Likely pathogenic	1	1	22	55
MUT:SCN1A:Met785Thr	PROT:P35498	SCN1A	M	785	T	M785T	Likely pathogenic	1	1	22	55
MUT:SCN1A:Met785Val	PROT:P35498	SCN1A	M	785	V	M785V	Pathogenic	1	3	22	55
MUT:SCN1A:Met934Arg	PROT:P35498	SCN1A	M	934	R	M934R	Pathogenic/Likely pathogenic	1	2	22	129
MUT:SCN1A:Met934Leu	PROT:P35498	SCN1A	M	934	L	M934L	Likely pathogenic	1	1	22	129
MUT:SCN1A:Met934Val	PROT:P35498	SCN1A	M	934	V	M934V	Pathogenic	1	2	22	129
MUT:SCN1A:Met956Ile	PROT:P35498	SCN1A	M	956	I	M956I	Likely pathogenic	1	2	22	107
MUT:SCN1A:Met956Thr	PROT:P35498	SCN1A	M	956	T	M956T	Pathogenic/Likely pathogenic	1	3	22	107
MUT:SCN1A:Met960Arg	PROT:P35498	SCN1A	M	960	R	M960R	Pathogenic	1	1	22	103
MUT:SCN1A:Met960Lys	PROT:P35498	SCN1A	M	960	K	M960K	Likely pathogenic	1	1	22	103
MUT:SCN1A:Met960Thr	PROT:P35498	SCN1A	M	960	T	M960T	Pathogenic	1	1	22	103
MUT:SCN1A:Met974Arg	PROT:P35498	SCN1A	M	974	R	M974R	Pathogenic	1	1	22	89
MUT:SCN1A:Met976Ile	PROT:P35498	SCN1A	M	976	I	M976I	Pathogenic/Likely pathogenic	1	1	22	87
MUT:SCN1A:Met976Thr	PROT:P35498	SCN1A	M	976	T	M976T	Pathogenic/Likely pathogenic	1	2	22	87
MUT:SCN1A:Phe100Leu	PROT:P35498	SCN1A	F	100	L	F100L	Likely pathogenic	1	1	22	12
MUT:SCN1A:Phe100Val	PROT:P35498	SCN1A	F	100	V	F100V	Pathogenic	1	1	22	12
MUT:SCN1A:Phe102Ser	PROT:P35498	SCN1A	F	102	S	F102S	Pathogenic	1	1	22	14
MUT:SCN1A:Phe1124Leu	PROT:P35498	SCN1A	F	1124	L	F1124L	Likely benign	0	1	22	58
MUT:SCN1A:Phe1220Leu	PROT:P35498	SCN1A	F	1220	L	F1220L	Pathogenic	1	1	22	154
MUT:SCN1A:Phe1223Cys	PROT:P35498	SCN1A	F	1223	C	F1223C	Likely pathogenic	1	1	22	157
MUT:SCN1A:Phe1361Leu	PROT:P35498	SCN1A	F	1361	L	F1361L	Pathogenic	1	1	22	145
MUT:SCN1A:Phe1361Val	PROT:P35498	SCN1A	F	1361	V	F1361V	Likely pathogenic	1	1	22	145
MUT:SCN1A:Phe1369Leu	PROT:P35498	SCN1A	F	1369	L	F1369L	Likely pathogenic	1	1	22	137
MUT:SCN1A:Phe1373Ile	PROT:P35498	SCN1A	F	1373	I	F1373I	Likely pathogenic	1	1	22	133
MUT:SCN1A:Phe1373Ser	PROT:P35498	SCN1A	F	1373	S	F1373S	Likely pathogenic	1	1	22	133
MUT:SCN1A:Phe1385Cys	PROT:P35498	SCN1A	F	1385	C	F1385C	Likely pathogenic	1	1	22	121
MUT:SCN1A:Phe1415Leu	PROT:P35498	SCN1A	F	1415	L	F1415L	Likely pathogenic	1	1	22	91
MUT:SCN1A:Phe1415Ser	PROT:P35498	SCN1A	F	1415	S	F1415S	Pathogenic	1	1	22	91
MUT:SCN1A:Phe1415Val	PROT:P35498	SCN1A	F	1415	V	F1415V	Likely pathogenic	1	1	22	91
MUT:SCN1A:Phe1431Ser	PROT:P35498	SCN1A	F	1431	S	F1431S	Pathogenic	1	1	22	75
MUT:SCN1A:Phe1472Leu	PROT:P35498	SCN1A	F	1472	L	F1472L	Likely pathogenic	1	1	22	34
MUT:SCN1A:Phe1472Ser	PROT:P35498	SCN1A	F	1472	S	F1472S	Pathogenic	1	1	22	34
MUT:SCN1A:Phe1473Ser	PROT:P35498	SCN1A	F	1473	S	F1473S	Pathogenic	1	1	22	33
MUT:SCN1A:Phe1486Leu	PROT:P35498	SCN1A	F	1486	L	F1486L	Likely pathogenic	1	1	22	20
MUT:SCN1A:Phe1499Leu	PROT:P35498	SCN1A	F	1499	L	F1499L	Pathogenic	1	3	22	7
MUT:SCN1A:Phe1620Leu	PROT:P35498	SCN1A	F	1620	L	F1620L	Likely pathogenic	1	1	22	64
MUT:SCN1A:Phe1661Ser	PROT:P35498	SCN1A	F	1661	S	F1661S	Pathogenic	1	1	22	23
MUT:SCN1A:Phe1692Cys	PROT:P35498	SCN1A	F	1692	C	F1692C	Likely pathogenic	1	1	22	2
MUT:SCN1A:Phe1692Ser	PROT:P35498	SCN1A	F	1692	S	F1692S	Likely pathogenic	1	2	22	2
MUT:SCN1A:Phe1705Cys	PROT:P35498	SCN1A	F	1705	C	F1705C	Likely pathogenic	1	1	22	11
MUT:SCN1A:Phe1707Ser	PROT:P35498	SCN1A	F	1707	S	F1707S	Pathogenic	1	1	22	13
MUT:SCN1A:Phe1710Ser	PROT:P35498	SCN1A	F	1710	S	F1710S	Likely pathogenic	1	1	22	16
MUT:SCN1A:Phe1765Leu	PROT:P35498	SCN1A	F	1765	L	F1765L	Pathogenic	1	2	22	71
MUT:SCN1A:Phe1765Ser	PROT:P35498	SCN1A	F	1765	S	F1765S	Pathogenic/Likely pathogenic	1	1	22	71
MUT:SCN1A:Phe1774Leu	PROT:P35498	SCN1A	F	1774	L	F1774L	Pathogenic	1	1	22	80
MUT:SCN1A:Phe1774Ser	PROT:P35498	SCN1A	F	1774	S	F1774S	Pathogenic	1	1	22	80
MUT:SCN1A:Phe1789Ser	PROT:P35498	SCN1A	F	1789	S	F1789S	Pathogenic	1	1	22	95
MUT:SCN1A:Phe1808Ile	PROT:P35498	SCN1A	F	1808	I	F1808I	Pathogenic	1	1	22	100
MUT:SCN1A:Phe1808Leu	PROT:P35498	SCN1A	F	1808	L	F1808L	Pathogenic	1	1	22	100
MUT:SCN1A:Phe1815Leu	PROT:P35498	SCN1A	F	1815	L	F1815L	Likely pathogenic	1	1	22	93
MUT:SCN1A:Phe1815Ser	PROT:P35498	SCN1A	F	1815	S	F1815S	Pathogenic	1	1	22	93
MUT:SCN1A:Phe218Leu	PROT:P35498	SCN1A	F	218	L	F218L	Pathogenic/Likely pathogenic	1	1	22	130
MUT:SCN1A:Phe312Ser	PROT:P35498	SCN1A	F	312	S	F312S	Pathogenic	1	1	22	168
MUT:SCN1A:Phe402Ile	PROT:P35498	SCN1A	F	402	I	F402I	Likely pathogenic	1	2	22	78
MUT:SCN1A:Phe403Leu	PROT:P35498	SCN1A	F	403	L	F403L	Pathogenic/Likely pathogenic	1	2	22	77
MUT:SCN1A:Phe412Leu	PROT:P35498	SCN1A	F	412	L	F412L	Likely pathogenic	1	2	22	68
MUT:SCN1A:Phe412Val	PROT:P35498	SCN1A	F	412	V	F412V	Pathogenic	1	1	22	68
MUT:SCN1A:Phe811Leu	PROT:P35498	SCN1A	F	811	L	F811L	Likely pathogenic	1	1	22	81
MUT:SCN1A:Phe811Ser	PROT:P35498	SCN1A	F	811	S	F811S	Likely pathogenic	1	1	22	81
MUT:SCN1A:Phe90Ser	PROT:P35498	SCN1A	F	90	S	F90S	Pathogenic/Likely pathogenic	1	2	22	2
MUT:SCN1A:Phe987Leu	PROT:P35498	SCN1A	F	987	L	F987L	Pathogenic	1	1	22	76
MUT:SCN1A:Phe995Cys	PROT:P35498	SCN1A	F	995	C	F995C	Likely pathogenic	1	2	22	68
MUT:SCN1A:Pro113Arg	PROT:P35498	SCN1A	P	113	R	P113R	Likely pathogenic	1	1	22	25
MUT:SCN1A:Pro113Leu	PROT:P35498	SCN1A	P	113	L	P113L	Pathogenic	1	1	22	25
MUT:SCN1A:Pro113Ser	PROT:P35498	SCN1A	P	113	S	P113S	Pathogenic	1	1	22	25
MUT:SCN1A:Pro113Thr	PROT:P35498	SCN1A	P	113	T	P113T	Pathogenic	1	2	22	25
MUT:SCN1A:Pro1323His	PROT:P35498	SCN1A	P	1323	H	P1323H	Pathogenic/Likely pathogenic	1	1	22	183
MUT:SCN1A:Pro1323Thr	PROT:P35498	SCN1A	P	1323	T	P1323T	Pathogenic	1	1	22	183
MUT:SCN1A:Pro1345Ser	PROT:P35498	SCN1A	P	1345	S	P1345S	Likely pathogenic	1	2	22	161
MUT:SCN1A:Pro1451Ala	PROT:P35498	SCN1A	P	1451	A	P1451A	Pathogenic	1	1	22	55
MUT:SCN1A:Pro1451Arg	PROT:P35498	SCN1A	P	1451	R	P1451R	Likely pathogenic	1	1	22	55
MUT:SCN1A:Pro1451Leu	PROT:P35498	SCN1A	P	1451	L	P1451L	Pathogenic/Likely pathogenic	1	2	22	55
MUT:SCN1A:Pro1451Thr	PROT:P35498	SCN1A	P	1451	T	P1451T	Pathogenic	1	2	22	55
MUT:SCN1A:Pro1519Arg	PROT:P35498	SCN1A	P	1519	R	P1519R	Pathogenic	1	1	22	3
MUT:SCN1A:Pro1519Ser	PROT:P35498	SCN1A	P	1519	S	P1519S	Pathogenic	1	1	22	3
MUT:SCN1A:Pro1519Thr	PROT:P35498	SCN1A	P	1519	T	P1519T	Pathogenic/Likely pathogenic	1	3	22	3
MUT:SCN1A:Pro1526Arg	PROT:P35498	SCN1A	P	1526	R	P1526R	Pathogenic/Likely pathogenic	1	1	22	10
MUT:SCN1A:Pro1668Arg	PROT:P35498	SCN1A	P	1668	R	P1668R	Pathogenic	1	1	22	16
MUT:SCN1A:Pro1732Leu	PROT:P35498	SCN1A	P	1732	L	P1732L	Pathogenic/Likely pathogenic	1	2	22	38
MUT:SCN1A:Pro1739Arg	PROT:P35498	SCN1A	P	1739	R	P1739R	Pathogenic	1	1	22	45
MUT:SCN1A:Pro1739Leu	PROT:P35498	SCN1A	P	1739	L	P1739L	Likely pathogenic	1	1	22	45
MUT:SCN1A:Pro1739Thr	PROT:P35498	SCN1A	P	1739	T	P1739T	Likely pathogenic	1	1	22	45
MUT:SCN1A:Pro1838Leu	PROT:P35498	SCN1A	P	1838	L	P1838L	Pathogenic	1	1	22	70
MUT:SCN1A:Pro1855His	PROT:P35498	SCN1A	P	1855	H	P1855H	Pathogenic	1	1	22	53
MUT:SCN1A:Pro1855Leu	PROT:P35498	SCN1A	P	1855	L	P1855L	Pathogenic/Likely pathogenic	1	1	22	53
MUT:SCN1A:Pro281Arg	PROT:P35498	SCN1A	P	281	R	P281R	Pathogenic	1	1	22	193
MUT:SCN1A:Pro281Leu	PROT:P35498	SCN1A	P	281	L	P281L	Pathogenic	1	1	22	193
MUT:SCN1A:Pro281Ser	PROT:P35498	SCN1A	P	281	S	P281S	Pathogenic	1	2	22	193
MUT:SCN1A:Pro281Thr	PROT:P35498	SCN1A	P	281	T	P281T	Likely pathogenic	1	1	22	193
MUT:SCN1A:Pro346Ser	PROT:P35498	SCN1A	P	346	S	P346S	Pathogenic	1	1	22	134
MUT:SCN1A:Pro358Ala	PROT:P35498	SCN1A	P	358	A	P358A	Likely pathogenic	1	1	22	122
MUT:SCN1A:Pro358Ser	PROT:P35498	SCN1A	P	358	S	P358S	Pathogenic	1	2	22	122
MUT:SCN1A:Pro358Thr	PROT:P35498	SCN1A	P	358	T	P358T	Likely pathogenic	1	1	22	122
MUT:SCN1A:Pro657Leu	PROT:P35498	SCN1A	P	657	L	P657L	Pathogenic	1	1	22	50
MUT:SCN1A:Pro657Thr	PROT:P35498	SCN1A	P	657	T	P657T	Likely benign	0	1	22	50
MUT:SCN1A:Pro707Ser	PROT:P35498	SCN1A	P	707	S	P707S	Likely benign	0	1	22	23
MUT:SCN1A:Pro768Ala	PROT:P35498	SCN1A	P	768	A	P768A	Likely pathogenic	1	1	22	38
MUT:SCN1A:Pro768Leu	PROT:P35498	SCN1A	P	768	L	P768L	Likely pathogenic	1	2	22	38
MUT:SCN1A:Pro76Leu	PROT:P35498	SCN1A	P	76	L	P76L	Likely pathogenic	1	1	22	12
MUT:SCN1A:Pro76Ser	PROT:P35498	SCN1A	P	76	S	P76S	Likely pathogenic	1	1	22	12
MUT:SCN1A:Pro76Thr	PROT:P35498	SCN1A	P	76	T	P76T	Pathogenic	1	1	22	12
MUT:SCN1A:Pro791Thr	PROT:P35498	SCN1A	P	791	T	P791T	Pathogenic	1	1	22	61
MUT:SCN1A:Ser103Ile	PROT:P35498	SCN1A	S	103	I	S103I	Pathogenic	1	1	22	15
MUT:SCN1A:Ser1150Asn	PROT:P35498	SCN1A	S	1150	N	S1150N	Likely benign	0	1	22	84
MUT:SCN1A:Ser1231Arg	PROT:P35498	SCN1A	S	1231	R	S1231R	Likely pathogenic	1	1	22	165
MUT:SCN1A:Ser1231Asn	PROT:P35498	SCN1A	S	1231	N	S1231N	Likely pathogenic	1	1	22	165
MUT:SCN1A:Ser1231Ile	PROT:P35498	SCN1A	S	1231	I	S1231I	Likely pathogenic	1	2	22	165
MUT:SCN1A:Ser1232Arg	PROT:P35498	SCN1A	S	1232	R	S1232R	Pathogenic	1	1	22	166
MUT:SCN1A:Ser1232Ile	PROT:P35498	SCN1A	S	1232	I	S1232I	Likely pathogenic	1	1	22	166
MUT:SCN1A:Ser1298Thr	PROT:P35498	SCN1A	S	1298	T	S1298T	Likely pathogenic	1	1	22	208
MUT:SCN1A:Ser1328Ala	PROT:P35498	SCN1A	S	1328	A	S1328A	Likely pathogenic	1	1	22	178
MUT:SCN1A:Ser1328Pro	PROT:P35498	SCN1A	S	1328	P	S1328P	Pathogenic/Likely pathogenic	1	2	22	178
MUT:SCN1A:Ser1362Arg	PROT:P35498	SCN1A	S	1362	R	S1362R	Pathogenic	1	2	22	144
MUT:SCN1A:Ser1444Tyr	PROT:P35498	SCN1A	S	1444	Y	S1444Y	Pathogenic	1	1	22	62
MUT:SCN1A:Ser1471Phe	PROT:P35498	SCN1A	S	1471	F	S1471F	Pathogenic	1	2	22	35
MUT:SCN1A:Ser1471Tyr	PROT:P35498	SCN1A	S	1471	Y	S1471Y	Likely pathogenic	1	1	22	35
MUT:SCN1A:Ser1516Trp	PROT:P35498	SCN1A	S	1516	W	S1516W	Pathogenic	1	1	22	0
MUT:SCN1A:Ser1594Pro	PROT:P35498	SCN1A	S	1594	P	S1594P	Likely pathogenic	1	1	22	78
MUT:SCN1A:Ser1666Phe	PROT:P35498	SCN1A	S	1666	F	S1666F	Pathogenic/Likely pathogenic	1	2	22	18
MUT:SCN1A:Ser1666Thr	PROT:P35498	SCN1A	S	1666	T	S1666T	Likely pathogenic	1	1	22	18
MUT:SCN1A:Ser169Pro	PROT:P35498	SCN1A	S	169	P	S169P	Likely pathogenic	1	1	22	81
MUT:SCN1A:Ser1713Ile	PROT:P35498	SCN1A	S	1713	I	S1713I	Pathogenic	1	1	22	19
MUT:SCN1A:Ser1723Phe	PROT:P35498	SCN1A	S	1723	F	S1723F	Pathogenic/Likely pathogenic	1	1	22	29
MUT:SCN1A:Ser1723Pro	PROT:P35498	SCN1A	S	1723	P	S1723P	Pathogenic	1	1	22	29
MUT:SCN1A:Ser1768Asn	PROT:P35498	SCN1A	S	1768	N	S1768N	Pathogenic	1	1	22	74
MUT:SCN1A:Ser1768Gly	PROT:P35498	SCN1A	S	1768	G	S1768G	Pathogenic	1	1	22	74
MUT:SCN1A:Ser1768Ile	PROT:P35498	SCN1A	S	1768	I	S1768I	Likely pathogenic	1	1	22	74
MUT:SCN1A:Ser1773Phe	PROT:P35498	SCN1A	S	1773	F	S1773F	Pathogenic	1	2	22	79
MUT:SCN1A:Ser1773Pro	PROT:P35498	SCN1A	S	1773	P	S1773P	Pathogenic	1	1	22	79
MUT:SCN1A:Ser1773Tyr	PROT:P35498	SCN1A	S	1773	Y	S1773Y	Pathogenic	1	1	22	79
MUT:SCN1A:Ser1796Arg	PROT:P35498	SCN1A	S	1796	R	S1796R	Pathogenic	1	1	22	102
MUT:SCN1A:Ser1918Phe	PROT:P35498	SCN1A	S	1918	F	S1918F	Pathogenic/Likely pathogenic	1	1	22	0
MUT:SCN1A:Ser228Leu	PROT:P35498	SCN1A	S	228	L	S228L	Likely pathogenic	1	1	22	140
MUT:SCN1A:Ser228Pro	PROT:P35498	SCN1A	S	228	P	S228P	Likely pathogenic	1	1	22	140
MUT:SCN1A:Ser243Pro	PROT:P35498	SCN1A	S	243	P	S243P	Likely pathogenic	1	1	22	155
MUT:SCN1A:Ser243Tyr	PROT:P35498	SCN1A	S	243	Y	S243Y	Pathogenic	1	1	22	155
MUT:SCN1A:Ser340Phe	PROT:P35498	SCN1A	S	340	F	S340F	Pathogenic	1	1	22	140
MUT:SCN1A:Ser340Pro	PROT:P35498	SCN1A	S	340	P	S340P	Pathogenic	1	1	22	140
MUT:SCN1A:Ser340Tyr	PROT:P35498	SCN1A	S	340	Y	S340Y	Pathogenic	1	1	22	140
MUT:SCN1A:Ser374Pro	PROT:P35498	SCN1A	S	374	P	S374P	Likely pathogenic	1	1	22	106
MUT:SCN1A:Ser374Tyr	PROT:P35498	SCN1A	S	374	Y	S374Y	Likely pathogenic	1	1	22	106
MUT:SCN1A:Ser411Leu	PROT:P35498	SCN1A	S	411	L	S411L	Pathogenic	1	1	22	69
MUT:SCN1A:Ser474Arg	PROT:P35498	SCN1A	S	474	R	S474R	Likely pathogenic	1	1	22	6
MUT:SCN1A:Ser525Phe	PROT:P35498	SCN1A	S	525	F	S525F	Likely pathogenic	1	1	22	0
MUT:SCN1A:Ser570Asn	PROT:P35498	SCN1A	S	570	N	S570N	Likely pathogenic	1	2	22	6
MUT:SCN1A:Ser626Gly	PROT:P35498	SCN1A	S	626	G	S626G	Pathogenic	1	2	22	19
MUT:SCN1A:Ser662Leu	PROT:P35498	SCN1A	S	662	L	S662L	Likely benign	0	1	22	55
MUT:SCN1A:Ser74Pro	PROT:P35498	SCN1A	S	74	P	S74P	Pathogenic	1	2	22	14
MUT:SCN1A:Ser843Gly	PROT:P35498	SCN1A	S	843	G	S843G	Likely pathogenic	1	1	22	113
MUT:SCN1A:Ser872Tyr	PROT:P35498	SCN1A	S	872	Y	S872Y	Pathogenic/Likely pathogenic	1	1	22	142
MUT:SCN1A:Ser886Phe	PROT:P35498	SCN1A	S	886	F	S886F	Pathogenic	1	1	22	156
MUT:SCN1A:Ser940Phe	PROT:P35498	SCN1A	S	940	F	S940F	Pathogenic/Likely pathogenic	1	1	22	123
MUT:SCN1A:Ser940Tyr	PROT:P35498	SCN1A	S	940	Y	S940Y	Likely pathogenic	1	1	22	123
MUT:SCN1A:Thr105Ser	PROT:P35498	SCN1A	T	105	S	T105S	Likely pathogenic	1	1	22	17
MUT:SCN1A:Thr112Ile	PROT:P35498	SCN1A	T	112	I	T112I	Likely pathogenic	1	2	22	24
MUT:SCN1A:Thr1210Lys	PROT:P35498	SCN1A	T	1210	K	T1210K	Pathogenic	1	1	22	144
MUT:SCN1A:Thr1210Met	PROT:P35498	SCN1A	T	1210	M	T1210M	Likely pathogenic	1	2	22	144
MUT:SCN1A:Thr1250Met	PROT:P35498	SCN1A	T	1250	M	T1250M	Benign/Likely benign	0	3	22	184
MUT:SCN1A:Thr1300Arg	PROT:P35498	SCN1A	T	1300	R	T1300R	Pathogenic	1	2	22	206
MUT:SCN1A:Thr1300Lys	PROT:P35498	SCN1A	T	1300	K	T1300K	Likely pathogenic	1	1	22	206
MUT:SCN1A:Thr1317Arg	PROT:P35498	SCN1A	T	1317	R	T1317R	Pathogenic	1	1	22	189
MUT:SCN1A:Thr137Pro	PROT:P35498	SCN1A	T	137	P	T137P	Pathogenic	1	1	22	49
MUT:SCN1A:Thr1394Ile	PROT:P35498	SCN1A	T	1394	I	T1394I	Pathogenic	1	1	22	112
MUT:SCN1A:Thr146Arg	PROT:P35498	SCN1A	T	146	R	T146R	Pathogenic	1	1	22	58
MUT:SCN1A:Thr146Lys	PROT:P35498	SCN1A	T	146	K	T146K	Likely pathogenic	1	1	22	58
MUT:SCN1A:Thr160Ser	PROT:P35498	SCN1A	T	160	S	T160S	Likely pathogenic	1	1	22	72
MUT:SCN1A:Thr162Ile	PROT:P35498	SCN1A	T	162	I	T162I	Pathogenic/Likely pathogenic	1	2	22	74
MUT:SCN1A:Thr1658Ala	PROT:P35498	SCN1A	T	1658	A	T1658A	Likely pathogenic	1	1	22	26
MUT:SCN1A:Thr1658Lys	PROT:P35498	SCN1A	T	1658	K	T1658K	Pathogenic	1	1	22	26
MUT:SCN1A:Thr1658Met	PROT:P35498	SCN1A	T	1658	M	T1658M	Pathogenic/Likely pathogenic	1	3	22	26
MUT:SCN1A:Thr1658Pro	PROT:P35498	SCN1A	T	1658	P	T1658P	Likely pathogenic	1	1	22	26
MUT:SCN1A:Thr1658Ser	PROT:P35498	SCN1A	T	1658	S	T1658S	Likely pathogenic	1	1	22	26
MUT:SCN1A:Thr1709Ala	PROT:P35498	SCN1A	T	1709	A	T1709A	Likely pathogenic	1	1	22	15
MUT:SCN1A:Thr1709Ile	PROT:P35498	SCN1A	T	1709	I	T1709I	Pathogenic	1	3	22	15
MUT:SCN1A:Thr1721Pro	PROT:P35498	SCN1A	T	1721	P	T1721P	Likely pathogenic	1	1	22	27
MUT:SCN1A:Thr1722Ala	PROT:P35498	SCN1A	T	1722	A	T1722A	Likely pathogenic	1	1	22	28
MUT:SCN1A:Thr1722Ile	PROT:P35498	SCN1A	T	1722	I	T1722I	Likely pathogenic	1	1	22	28
MUT:SCN1A:Thr184Pro	PROT:P35498	SCN1A	T	184	P	T184P	Likely pathogenic	1	1	22	96
MUT:SCN1A:Thr1872Ala	PROT:P35498	SCN1A	T	1872	A	T1872A	Likely pathogenic	1	1	22	36
MUT:SCN1A:Thr1909Ile	PROT:P35498	SCN1A	T	1909	I	T1909I	Pathogenic/Likely pathogenic	1	2	22	0
MUT:SCN1A:Thr204Ile	PROT:P35498	SCN1A	T	204	I	T204I	Likely pathogenic	1	1	22	116
MUT:SCN1A:Thr217Ile	PROT:P35498	SCN1A	T	217	I	T217I	Likely pathogenic	1	1	22	129
MUT:SCN1A:Thr217Lys	PROT:P35498	SCN1A	T	217	K	T217K	Pathogenic	1	2	22	129
MUT:SCN1A:Thr226Met	PROT:P35498	SCN1A	T	226	M	T226M	Pathogenic	1	4	22	138
MUT:SCN1A:Thr235Ala	PROT:P35498	SCN1A	T	235	A	T235A	Pathogenic	1	1	22	147
MUT:SCN1A:Thr363Pro	PROT:P35498	SCN1A	T	363	P	T363P	Pathogenic/Likely pathogenic	1	1	22	117
MUT:SCN1A:Thr463Met	PROT:P35498	SCN1A	T	463	M	T463M	Likely benign	0	1	22	17
MUT:SCN1A:Thr782Ala	PROT:P35498	SCN1A	T	782	A	T782A	Likely pathogenic	1	1	22	52
MUT:SCN1A:Thr782Pro	PROT:P35498	SCN1A	T	782	P	T782P	Pathogenic	1	1	22	52
MUT:SCN1A:Thr793Met	PROT:P35498	SCN1A	T	793	M	T793M	Likely benign	0	1	22	63
MUT:SCN1A:Thr812Arg	PROT:P35498	SCN1A	T	812	R	T812R	Pathogenic	1	2	22	82
MUT:SCN1A:Thr812Pro	PROT:P35498	SCN1A	T	812	P	T812P	Likely pathogenic	1	1	22	82
MUT:SCN1A:Thr841Arg	PROT:P35498	SCN1A	T	841	R	T841R	Pathogenic	1	1	22	111
MUT:SCN1A:Thr875Lys	PROT:P35498	SCN1A	T	875	K	T875K	Likely pathogenic	1	2	22	145
MUT:SCN1A:Thr875Met	PROT:P35498	SCN1A	T	875	M	T875M	Pathogenic/Likely pathogenic	1	7	22	145
MUT:SCN1A:Thr955Ile	PROT:P35498	SCN1A	T	955	I	T955I	Likely pathogenic	1	1	22	108
MUT:SCN1A:Thr955Ser	PROT:P35498	SCN1A	T	955	S	T955S	Likely pathogenic	1	1	22	108
MUT:SCN1A:Trp1204Arg	PROT:P35498	SCN1A	W	1204	R	W1204R	Pathogenic	1	3	22	138
MUT:SCN1A:Trp1204Ser	PROT:P35498	SCN1A	W	1204	S	W1204S	Likely pathogenic	1	1	22	138
MUT:SCN1A:Trp1284Arg	PROT:P35498	SCN1A	W	1284	R	W1284R	Pathogenic/Likely pathogenic	1	2	22	218
MUT:SCN1A:Trp1284Cys	PROT:P35498	SCN1A	W	1284	C	W1284C	Likely pathogenic	1	1	22	218
MUT:SCN1A:Trp1284Ser	PROT:P35498	SCN1A	W	1284	S	W1284S	Pathogenic	1	1	22	218
MUT:SCN1A:Trp1358Arg	PROT:P35498	SCN1A	W	1358	R	W1358R	Pathogenic/Likely pathogenic	1	2	22	148
MUT:SCN1A:Trp1358Leu	PROT:P35498	SCN1A	W	1358	L	W1358L	Pathogenic	1	1	22	148
MUT:SCN1A:Trp1434Arg	PROT:P35498	SCN1A	W	1434	R	W1434R	Pathogenic/Likely pathogenic	1	4	22	72
MUT:SCN1A:Trp1726Ser	PROT:P35498	SCN1A	W	1726	S	W1726S	Pathogenic	1	1	22	32
MUT:SCN1A:Trp1812Gly	PROT:P35498	SCN1A	W	1812	G	W1812G	Likely pathogenic	1	2	22	96
MUT:SCN1A:Trp1812Leu	PROT:P35498	SCN1A	W	1812	L	W1812L	Likely pathogenic	1	1	22	96
MUT:SCN1A:Trp1812Ser	PROT:P35498	SCN1A	W	1812	S	W1812S	Pathogenic	1	1	22	96
MUT:SCN1A:Trp190Arg	PROT:P35498	SCN1A	W	190	R	W190R	Pathogenic	1	2	22	102
MUT:SCN1A:Trp280Arg	PROT:P35498	SCN1A	W	280	R	W280R	Pathogenic	1	2	22	192
MUT:SCN1A:Trp314Arg	PROT:P35498	SCN1A	W	314	R	W314R	Likely pathogenic	1	1	22	166
MUT:SCN1A:Trp314Cys	PROT:P35498	SCN1A	W	314	C	W314C	Pathogenic	1	2	22	166
MUT:SCN1A:Trp384Arg	PROT:P35498	SCN1A	W	384	R	W384R	Pathogenic	1	1	22	96
MUT:SCN1A:Trp384Gly	PROT:P35498	SCN1A	W	384	G	W384G	Likely pathogenic	1	1	22	96
MUT:SCN1A:Trp384Ser	PROT:P35498	SCN1A	W	384	S	W384S	Pathogenic	1	1	22	96
MUT:SCN1A:Trp738Leu	PROT:P35498	SCN1A	W	738	L	W738L	Pathogenic	1	1	22	8
MUT:SCN1A:Trp754Leu	PROT:P35498	SCN1A	W	754	L	W754L	Pathogenic	1	1	22	24
MUT:SCN1A:Trp873Cys	PROT:P35498	SCN1A	W	873	C	W873C	Pathogenic	1	1	22	143
MUT:SCN1A:Trp873Ser	PROT:P35498	SCN1A	W	873	S	W873S	Likely pathogenic	1	1	22	143
MUT:SCN1A:Trp932Arg	PROT:P35498	SCN1A	W	932	R	W932R	Likely pathogenic	1	1	22	131
MUT:SCN1A:Trp932Cys	PROT:P35498	SCN1A	W	932	C	W932C	Likely pathogenic	1	1	22	131
MUT:SCN1A:Trp952Arg	PROT:P35498	SCN1A	W	952	R	W952R	Pathogenic	1	1	22	111
MUT:SCN1A:Trp952Cys	PROT:P35498	SCN1A	W	952	C	W952C	Pathogenic	1	1	22	111
MUT:SCN1A:Trp952Gly	PROT:P35498	SCN1A	W	952	G	W952G	Pathogenic	1	1	22	111
MUT:SCN1A:Trp952Leu	PROT:P35498	SCN1A	W	952	L	W952L	Likely pathogenic	1	2	22	111
MUT:SCN1A:Trp957Arg	PROT:P35498	SCN1A	W	957	R	W957R	Pathogenic	1	1	22	106
MUT:SCN1A:Trp957Gly	PROT:P35498	SCN1A	W	957	G	W957G	Likely pathogenic	1	1	22	106
MUT:SCN1A:Tyr1241Asp	PROT:P35498	SCN1A	Y	1241	D	Y1241D	Likely pathogenic	1	1	22	175
MUT:SCN1A:Tyr1274Ser	PROT:P35498	SCN1A	Y	1274	S	Y1274S	Pathogenic	1	1	22	208
MUT:SCN1A:Tyr1279His	PROT:P35498	SCN1A	Y	1279	H	Y1279H	Pathogenic	1	1	22	213
MUT:SCN1A:Tyr1422Cys	PROT:P35498	SCN1A	Y	1422	C	Y1422C	Pathogenic/Likely pathogenic	1	2	22	84
MUT:SCN1A:Tyr1422His	PROT:P35498	SCN1A	Y	1422	H	Y1422H	Likely pathogenic	1	2	22	84
MUT:SCN1A:Tyr1422Phe	PROT:P35498	SCN1A	Y	1422	F	Y1422F	Likely pathogenic	1	1	22	84
MUT:SCN1A:Tyr1453Asp	PROT:P35498	SCN1A	Y	1453	D	Y1453D	Likely pathogenic	1	1	22	53
MUT:SCN1A:Tyr1453Cys	PROT:P35498	SCN1A	Y	1453	C	Y1453C	Pathogenic	1	1	22	53
MUT:SCN1A:Tyr1462His	PROT:P35498	SCN1A	Y	1462	H	Y1462H	Pathogenic	1	1	22	44
MUT:SCN1A:Tyr1507His	PROT:P35498	SCN1A	Y	1507	H	Y1507H	Likely pathogenic	1	1	22	1
MUT:SCN1A:Tyr1599His	PROT:P35498	SCN1A	Y	1599	H	Y1599H	Pathogenic	1	1	22	83
MUT:SCN1A:Tyr165Cys	PROT:P35498	SCN1A	Y	165	C	Y165C	Likely pathogenic	1	1	22	77
MUT:SCN1A:Tyr165His	PROT:P35498	SCN1A	Y	165	H	Y165H	Pathogenic/Likely pathogenic	1	3	22	77
MUT:SCN1A:Tyr1684Cys	PROT:P35498	SCN1A	Y	1684	C	Y1684C	Pathogenic	1	2	22	0
MUT:SCN1A:Tyr1694Asp	PROT:P35498	SCN1A	Y	1694	D	Y1694D	Likely pathogenic	1	1	22	0
MUT:SCN1A:Tyr1694His	PROT:P35498	SCN1A	Y	1694	H	Y1694H	Likely pathogenic	1	1	22	0
MUT:SCN1A:Tyr1694Phe	PROT:P35498	SCN1A	Y	1694	F	Y1694F	Likely pathogenic	1	1	22	0
MUT:SCN1A:Tyr1781Cys	PROT:P35498	SCN1A	Y	1781	C	Y1781C	Pathogenic	1	2	22	87
MUT:SCN1A:Tyr1781His	PROT:P35498	SCN1A	Y	1781	H	Y1781H	Pathogenic	1	2	22	87
MUT:SCN1A:Tyr1903Asp	PROT:P35498	SCN1A	Y	1903	D	Y1903D	Likely pathogenic	1	1	22	5
MUT:SCN1A:Tyr317Cys	PROT:P35498	SCN1A	Y	317	C	Y317C	Pathogenic	1	1	22	163
MUT:SCN1A:Tyr317His	PROT:P35498	SCN1A	Y	317	H	Y317H	Pathogenic	1	1	22	163
MUT:SCN1A:Tyr325Cys	PROT:P35498	SCN1A	Y	325	C	Y325C	Pathogenic	1	1	22	155
MUT:SCN1A:Tyr349Cys	PROT:P35498	SCN1A	Y	349	C	Y349C	Pathogenic	1	2	22	131
MUT:SCN1A:Tyr388Cys	PROT:P35498	SCN1A	Y	388	C	Y388C	Likely pathogenic	1	1	22	92
MUT:SCN1A:Tyr388His	PROT:P35498	SCN1A	Y	388	H	Y388H	Pathogenic	1	2	22	92
MUT:SCN1A:Tyr413Asn	PROT:P35498	SCN1A	Y	413	N	Y413N	Pathogenic	1	1	22	67
MUT:SCN1A:Tyr426Cys	PROT:P35498	SCN1A	Y	426	C	Y426C	Pathogenic/Likely pathogenic	1	2	22	54
MUT:SCN1A:Tyr426His	PROT:P35498	SCN1A	Y	426	H	Y426H	Pathogenic	1	1	22	54
MUT:SCN1A:Tyr426Phe	PROT:P35498	SCN1A	Y	426	F	Y426F	Likely pathogenic	1	1	22	54
MUT:SCN1A:Tyr790Asn	PROT:P35498	SCN1A	Y	790	N	Y790N	Likely pathogenic	1	1	22	60
MUT:SCN1A:Tyr790Cys	PROT:P35498	SCN1A	Y	790	C	Y790C	Pathogenic	1	3	22	60
MUT:SCN1A:Tyr790Phe	PROT:P35498	SCN1A	Y	790	F	Y790F	Pathogenic/Likely pathogenic	1	3	22	60
MUT:SCN1A:Tyr827Asp	PROT:P35498	SCN1A	Y	827	D	Y827D	Pathogenic	1	1	22	97
MUT:SCN1A:Tyr83Asp	PROT:P35498	SCN1A	Y	83	D	Y83D	Pathogenic	1	1	22	5
MUT:SCN1A:Tyr83Cys	PROT:P35498	SCN1A	Y	83	C	Y83C	Pathogenic	1	1	22	5
MUT:SCN1A:Tyr84Cys	PROT:P35498	SCN1A	Y	84	C	Y84C	Pathogenic/Likely pathogenic	1	2	22	4
MUT:SCN1A:Val1169Gly	PROT:P35498	SCN1A	V	1169	G	V1169G	Likely benign	0	1	22	103
MUT:SCN1A:Val1196Met	PROT:P35498	SCN1A	V	1196	M	V1196M	Likely benign	0	1	22	130
MUT:SCN1A:Val1215Ile	PROT:P35498	SCN1A	V	1215	I	V1215I	Likely pathogenic	1	1	22	149
MUT:SCN1A:Val1292Leu	PROT:P35498	SCN1A	V	1292	L	V1292L	Pathogenic	1	1	22	214
MUT:SCN1A:Val1350Ala	PROT:P35498	SCN1A	V	1350	A	V1350A	Pathogenic	1	1	22	156
MUT:SCN1A:Val1350Leu	PROT:P35498	SCN1A	V	1350	L	V1350L	Pathogenic	1	1	22	156
MUT:SCN1A:Val1350Met	PROT:P35498	SCN1A	V	1350	M	V1350M	Pathogenic/Likely pathogenic	1	2	22	156
MUT:SCN1A:Val1353Leu	PROT:P35498	SCN1A	V	1353	L	V1353L	Pathogenic	1	3	22	153
MUT:SCN1A:Val1353Phe	PROT:P35498	SCN1A	V	1353	F	V1353F	Pathogenic	1	2	22	153
MUT:SCN1A:Val1366Leu	PROT:P35498	SCN1A	V	1366	L	V1366L	Likely pathogenic	1	1	22	140
MUT:SCN1A:Val1390Ala	PROT:P35498	SCN1A	V	1390	A	V1390A	Likely pathogenic	1	1	22	116
MUT:SCN1A:Val1390Leu	PROT:P35498	SCN1A	V	1390	L	V1390L	Pathogenic	1	2	22	116
MUT:SCN1A:Val1390Met	PROT:P35498	SCN1A	V	1390	M	V1390M	Pathogenic/Likely pathogenic	1	3	22	116
MUT:SCN1A:Val1428Ala	PROT:P35498	SCN1A	V	1428	A	V1428A	Pathogenic	1	2	22	78
MUT:SCN1A:Val1428Asp	PROT:P35498	SCN1A	V	1428	D	V1428D	Pathogenic	1	1	22	78
MUT:SCN1A:Val1428Phe	PROT:P35498	SCN1A	V	1428	F	V1428F	Pathogenic	1	1	22	78
MUT:SCN1A:Val1464Leu	PROT:P35498	SCN1A	V	1464	L	V1464L	Benign	0	1	22	42
MUT:SCN1A:Val1481Ile	PROT:P35498	SCN1A	V	1481	I	V1481I	Pathogenic/Likely pathogenic	1	1	22	25
MUT:SCN1A:Val1534Asp	PROT:P35498	SCN1A	V	1534	D	V1534D	Pathogenic/Likely pathogenic	1	2	22	18
MUT:SCN1A:Val1589Gly	PROT:P35498	SCN1A	V	1589	G	V1589G	Pathogenic	1	1	22	73
MUT:SCN1A:Val1611Phe	PROT:P35498	SCN1A	V	1611	F	V1611F	Pathogenic	1	2	22	73
MUT:SCN1A:Val1630Ala	PROT:P35498	SCN1A	V	1630	A	V1630A	Likely pathogenic	1	1	22	54
MUT:SCN1A:Val1630Leu	PROT:P35498	SCN1A	V	1630	L	V1630L	Pathogenic	1	1	22	54
MUT:SCN1A:Val1680Asp	PROT:P35498	SCN1A	V	1680	D	V1680D	Pathogenic	1	1	22	4
MUT:SCN1A:Val1680Phe	PROT:P35498	SCN1A	V	1680	F	V1680F	Likely pathogenic	1	1	22	4
MUT:SCN1A:Val1767Asp	PROT:P35498	SCN1A	V	1767	D	V1767D	Pathogenic	1	1	22	73
MUT:SCN1A:Val1767Phe	PROT:P35498	SCN1A	V	1767	F	V1767F	Likely pathogenic	1	1	22	73
MUT:SCN1A:Val1784Ala	PROT:P35498	SCN1A	V	1784	A	V1784A	Likely pathogenic	1	1	22	90
MUT:SCN1A:Val1784Asp	PROT:P35498	SCN1A	V	1784	D	V1784D	Likely pathogenic	1	2	22	90
MUT:SCN1A:Val1901Gly	PROT:P35498	SCN1A	V	1901	G	V1901G	Likely benign	0	1	22	7
MUT:SCN1A:Val1901Ile	PROT:P35498	SCN1A	V	1901	I	V1901I	Likely benign	0	1	22	7
MUT:SCN1A:Val220Asp	PROT:P35498	SCN1A	V	220	D	V220D	Pathogenic	1	1	22	132
MUT:SCN1A:Val237Leu	PROT:P35498	SCN1A	V	237	L	V237L	Likely pathogenic	1	1	22	149
MUT:SCN1A:Val298Met	PROT:P35498	SCN1A	V	298	M	V298M	Likely benign	0	1	22	182
MUT:SCN1A:Val309Asp	PROT:P35498	SCN1A	V	309	D	V309D	Likely benign	0	1	22	171
MUT:SCN1A:Val406Ala	PROT:P35498	SCN1A	V	406	A	V406A	Pathogenic	1	1	22	74
MUT:SCN1A:Val421Met	PROT:P35498	SCN1A	V	421	M	V421M	Pathogenic/Likely pathogenic	1	1	22	59
MUT:SCN1A:Val422Ala	PROT:P35498	SCN1A	V	422	A	V422A	Pathogenic	1	1	22	58
MUT:SCN1A:Val422Glu	PROT:P35498	SCN1A	V	422	E	V422E	Likely pathogenic	1	2	22	58
MUT:SCN1A:Val422Leu	PROT:P35498	SCN1A	V	422	L	V422L	Pathogenic	1	1	22	58
MUT:SCN1A:Val422Met	PROT:P35498	SCN1A	V	422	M	V422M	Pathogenic/Likely pathogenic	1	3	22	58
MUT:SCN1A:Val645Leu	PROT:P35498	SCN1A	V	645	L	V645L	Likely benign	0	1	22	38
MUT:SCN1A:Val659Leu	PROT:P35498	SCN1A	V	659	L	V659L	Likely benign	0	1	22	52
MUT:SCN1A:Val724Leu	PROT:P35498	SCN1A	V	724	L	V724L	Likely benign	0	1	22	6
MUT:SCN1A:Val760Ile	PROT:P35498	SCN1A	V	760	I	V760I	Likely benign	0	1	22	30
MUT:SCN1A:Val760Leu	PROT:P35498	SCN1A	V	760	L	V760L	Likely benign	0	1	22	30
MUT:SCN1A:Val866Leu	PROT:P35498	SCN1A	V	866	L	V866L	Pathogenic	1	1	22	136
MUT:SCN1A:Val887Glu	PROT:P35498	SCN1A	V	887	E	V887E	Pathogenic/Likely pathogenic	1	2	22	157
MUT:SCN1A:Val896Ile	PROT:P35498	SCN1A	V	896	I	V896I	Pathogenic/Likely pathogenic	1	1	22	166
MUT:SCN1A:Val907Gly	PROT:P35498	SCN1A	V	907	G	V907G	Likely pathogenic	1	1	22	156
MUT:SCN1A:Val944Ala	PROT:P35498	SCN1A	V	944	A	V944A	Pathogenic	1	2	22	119
MUT:SCN1A:Val944Met	PROT:P35498	SCN1A	V	944	M	V944M	Pathogenic	1	1	22	119
MUT:SCN1A:Val977Met	PROT:P35498	SCN1A	V	977	M	V977M	Pathogenic	1	1	22	86
MUT:SCN1A:Val983Asp	PROT:P35498	SCN1A	V	983	D	V983D	Pathogenic	1	1	22	80
MUT:SCN1A:Val983Gly	PROT:P35498	SCN1A	V	983	G	V983G	Likely pathogenic	1	1	22	80
MUT:SCN1A:Val983Ile	PROT:P35498	SCN1A	V	983	I	V983I	Pathogenic	1	1	22	80
MUT:SCN1A:Val983Phe	PROT:P35498	SCN1A	V	983	F	V983F	Likely pathogenic	1	1	22	80
MUT:SCN1B:Arg250Thr	PROT:Q07699	SCN1B	R	250	T	R250T	Benign	0	2	1	50
MUT:SCN1B:Arg85Cys	PROT:Q07699	SCN1B	R	85	C	R85C	Pathogenic/Likely pathogenic	1	3	1	115
MUT:SCN1B:Arg85His	PROT:Q07699	SCN1B	R	85	H	R85H	Pathogenic/Likely pathogenic	1	3	1	115
MUT:SCN1B:Asp103Val	PROT:Q07699	SCN1B	D	103	V	D103V	Pathogenic	1	1	1	97
MUT:SCN1B:Cys121Trp	PROT:Q07699	SCN1B	C	121	W	C121W	Pathogenic/Likely pathogenic	1	4	1	79
MUT:SCN1B:Ile106Phe	PROT:Q07699	SCN1B	I	106	F	I106F	Pathogenic	1	1	1	94
MUT:SCN1B:Leu170Phe	PROT:Q07699	SCN1B	L	170	F	L170F	Likely pathogenic	1	1	1	30
MUT:SCN1B:Thr189Met	PROT:Q07699	SCN1B	T	189	M	T189M	Likely benign	0	1	1	11
MUT:SCN1B:Tyr119Asp	PROT:Q07699	SCN1B	Y	119	D	Y119D	Pathogenic	1	1	1	81
MUT:SCN1B:Val138Ile	PROT:Q07699	SCN1B	V	138	I	V138I	Benign/Likely benign	0	4	1	62
MUT:SCN1B:Val158Met	PROT:Q07699	SCN1B	V	158	M	V158M	Pathogenic/Likely pathogenic	1	1	1	42
MUT:SCN2A:Ala1316Val	PROT:Q99250	SCN2A	A	1316	V	A1316V	Pathogenic/Likely pathogenic	1	1	17	332
MUT:SCN2A:Ala1333Ser	PROT:Q99250	SCN2A	A	1333	S	A1333S	Pathogenic	1	2	17	349
MUT:SCN2A:Ala1500Thr	PROT:Q99250	SCN2A	A	1500	T	A1500T	Pathogenic	1	1	17	393
MUT:SCN2A:Ala1500Val	PROT:Q99250	SCN2A	A	1500	V	A1500V	Likely pathogenic	1	1	17	393
MUT:SCN2A:Ala1612Gly	PROT:Q99250	SCN2A	A	1612	G	A1612G	Pathogenic	1	1	17	281
MUT:SCN2A:Ala1652Pro	PROT:Q99250	SCN2A	A	1652	P	A1652P	Pathogenic	1	1	17	241
MUT:SCN2A:Ala1659Val	PROT:Q99250	SCN2A	A	1659	V	A1659V	Pathogenic/Likely pathogenic	1	3	17	234
MUT:SCN2A:Ala1773Glu	PROT:Q99250	SCN2A	A	1773	E	A1773E	Likely pathogenic	1	2	17	120
MUT:SCN2A:Ala1773Thr	PROT:Q99250	SCN2A	A	1773	T	A1773T	Pathogenic	1	4	17	120
MUT:SCN2A:Ala1773Val	PROT:Q99250	SCN2A	A	1773	V	A1773V	Pathogenic/Likely pathogenic	1	1	17	120
MUT:SCN2A:Ala202Val	PROT:Q99250	SCN2A	A	202	V	A202V	Pathogenic/Likely pathogenic	1	4	17	198
MUT:SCN2A:Ala215Thr	PROT:Q99250	SCN2A	A	215	T	A215T	Pathogenic	1	1	17	211
MUT:SCN2A:Ala240Ser	PROT:Q99250	SCN2A	A	240	S	A240S	Pathogenic	1	1	17	236
MUT:SCN2A:Ala240Val	PROT:Q99250	SCN2A	A	240	V	A240V	Pathogenic/Likely pathogenic	1	2	17	236
MUT:SCN2A:Ala263Glu	PROT:Q99250	SCN2A	A	263	E	A263E	Likely pathogenic	1	1	17	251
MUT:SCN2A:Ala263Thr	PROT:Q99250	SCN2A	A	263	T	A263T	Pathogenic	1	1	17	251
MUT:SCN2A:Ala263Val	PROT:Q99250	SCN2A	A	263	V	A263V	Pathogenic	1	7	17	251
MUT:SCN2A:Ala467Thr	PROT:Q99250	SCN2A	A	467	T	A467T	Benign	0	2	17	47
MUT:SCN2A:Ala880Thr	PROT:Q99250	SCN2A	A	880	T	A880T	Pathogenic/Likely pathogenic	1	2	17	104
MUT:SCN2A:Ala896Val	PROT:Q99250	SCN2A	A	896	V	A896V	Pathogenic/Likely pathogenic	1	2	17	88
MUT:SCN2A:Ala980Pro	PROT:Q99250	SCN2A	A	980	P	A980P	Likely pathogenic	1	1	17	4
MUT:SCN2A:Arg102Gln	PROT:Q99250	SCN2A	R	102	Q	R102Q	Pathogenic	1	1	17	98
MUT:SCN2A:Arg102Gly	PROT:Q99250	SCN2A	R	102	G	R102G	Likely pathogenic	1	1	17	98
MUT:SCN2A:Arg1312Ser	PROT:Q99250	SCN2A	R	1312	S	R1312S	Pathogenic	1	1	17	328
MUT:SCN2A:Arg1312Thr	PROT:Q99250	SCN2A	R	1312	T	R1312T	Likely pathogenic	1	1	17	328
MUT:SCN2A:Arg1315Ser	PROT:Q99250	SCN2A	R	1315	S	R1315S	Likely pathogenic	1	1	17	331
MUT:SCN2A:Arg1319Gln	PROT:Q99250	SCN2A	R	1319	Q	R1319Q	Pathogenic	1	6	17	335
MUT:SCN2A:Arg1319Leu	PROT:Q99250	SCN2A	R	1319	L	R1319L	Pathogenic	1	4	17	335
MUT:SCN2A:Arg1319Pro	PROT:Q99250	SCN2A	R	1319	P	R1319P	Pathogenic/Likely pathogenic	1	1	17	335
MUT:SCN2A:Arg1319Trp	PROT:Q99250	SCN2A	R	1319	W	R1319W	Pathogenic/Likely pathogenic	1	1	17	335
MUT:SCN2A:Arg1626Gln	PROT:Q99250	SCN2A	R	1626	Q	R1626Q	Pathogenic	1	3	17	267
MUT:SCN2A:Arg1629Cys	PROT:Q99250	SCN2A	R	1629	C	R1629C	Likely pathogenic	1	1	17	264
MUT:SCN2A:Arg1629His	PROT:Q99250	SCN2A	R	1629	H	R1629H	Pathogenic/Likely pathogenic	1	7	17	264
MUT:SCN2A:Arg1632Met	PROT:Q99250	SCN2A	R	1632	M	R1632M	Likely pathogenic	1	1	17	261
MUT:SCN2A:Arg1635Gln	PROT:Q99250	SCN2A	R	1635	Q	R1635Q	Pathogenic/Likely pathogenic	1	4	17	258
MUT:SCN2A:Arg1638Pro	PROT:Q99250	SCN2A	R	1638	P	R1638P	Pathogenic/Likely pathogenic	1	3	17	255
MUT:SCN2A:Arg1882Gln	PROT:Q99250	SCN2A	R	1882	Q	R1882Q	Pathogenic/Likely pathogenic	1	4	17	11
MUT:SCN2A:Arg1882Gly	PROT:Q99250	SCN2A	R	1882	G	R1882G	Pathogenic	1	5	17	11
MUT:SCN2A:Arg1882Leu	PROT:Q99250	SCN2A	R	1882	L	R1882L	Pathogenic	1	1	17	11
MUT:SCN2A:Arg19Lys	PROT:Q99250	SCN2A	R	19	K	R19K	Benign	0	5	17	15
MUT:SCN2A:Arg223Gln	PROT:Q99250	SCN2A	R	223	Q	R223Q	Pathogenic/Likely pathogenic	1	5	17	219
MUT:SCN2A:Arg28Cys	PROT:Q99250	SCN2A	R	28	C	R28C	Benign/Likely benign	0	3	17	24
MUT:SCN2A:Arg379Cys	PROT:Q99250	SCN2A	R	379	C	R379C	Likely pathogenic	1	1	17	135
MUT:SCN2A:Arg379His	PROT:Q99250	SCN2A	R	379	H	R379H	Pathogenic/Likely pathogenic	1	2	17	135
MUT:SCN2A:Arg395Cys	PROT:Q99250	SCN2A	R	395	C	R395C	Likely pathogenic	1	1	17	119
MUT:SCN2A:Arg524Gln	PROT:Q99250	SCN2A	R	524	Q	R524Q	Benign	0	1	17	2
MUT:SCN2A:Arg701Ser	PROT:Q99250	SCN2A	R	701	S	R701S	Likely benign	0	1	17	15
MUT:SCN2A:Arg853Gln	PROT:Q99250	SCN2A	R	853	Q	R853Q	Pathogenic	1	3	17	131
MUT:SCN2A:Arg856Gln	PROT:Q99250	SCN2A	R	856	Q	R856Q	Pathogenic/Likely pathogenic	1	3	17	128
MUT:SCN2A:Arg937Cys	PROT:Q99250	SCN2A	R	937	C	R937C	Pathogenic	1	2	17	47
MUT:SCN2A:Arg937His	PROT:Q99250	SCN2A	R	937	H	R937H	Pathogenic/Likely pathogenic	1	4	17	47
MUT:SCN2A:Asn1339Asp	PROT:Q99250	SCN2A	N	1339	D	N1339D	Pathogenic	1	1	17	355
MUT:SCN2A:Asn1662Asp	PROT:Q99250	SCN2A	N	1662	D	N1662D	Likely pathogenic	1	1	17	231
MUT:SCN2A:Asn1778Ile	PROT:Q99250	SCN2A	N	1778	I	N1778I	Likely pathogenic	1	2	17	115
MUT:SCN2A:Asn212Asp	PROT:Q99250	SCN2A	N	212	D	N212D	Pathogenic	1	2	17	208
MUT:SCN2A:Asn273Lys	PROT:Q99250	SCN2A	N	273	K	N273K	Likely pathogenic	1	1	17	241
MUT:SCN2A:Asn418Ile	PROT:Q99250	SCN2A	N	418	I	N418I	Pathogenic	1	1	17	96
MUT:SCN2A:Asn876Ser	PROT:Q99250	SCN2A	N	876	S	N876S	Pathogenic/Likely pathogenic	1	1	17	108
MUT:SCN2A:Asp1015Asn	PROT:Q99250	SCN2A	D	1015	N	D1015N	Likely benign	0	4	17	31
MUT:SCN2A:Asp12Glu	PROT:Q99250	SCN2A	D	12	E	D12E	Likely benign	0	1	17	8
MUT:SCN2A:Asp1406Tyr	PROT:Q99250	SCN2A	D	1406	Y	D1406Y	Likely pathogenic	1	1	17	422
MUT:SCN2A:Asp343Ala	PROT:Q99250	SCN2A	D	343	A	D343A	Likely pathogenic	1	1	17	171
MUT:SCN2A:Asp343His	PROT:Q99250	SCN2A	D	343	H	D343H	Pathogenic	1	1	17	171
MUT:SCN2A:Asp55Ala	PROT:Q99250	SCN2A	D	55	A	D55A	Likely pathogenic	1	1	17	51
MUT:SCN2A:Asp996Asn	PROT:Q99250	SCN2A	D	996	N	D996N	Likely pathogenic	1	1	17	12
MUT:SCN2A:Cys1344Tyr	PROT:Q99250	SCN2A	C	1344	Y	C1344Y	Likely pathogenic	1	1	17	360
MUT:SCN2A:Cys1366Arg	PROT:Q99250	SCN2A	C	1366	R	C1366R	Likely pathogenic	1	1	17	382
MUT:SCN2A:Cys1746Tyr	PROT:Q99250	SCN2A	C	1746	Y	C1746Y	Pathogenic	1	1	17	147
MUT:SCN2A:Cys353Ser	PROT:Q99250	SCN2A	C	353	S	C353S	Likely pathogenic	1	1	17	161
MUT:SCN2A:Cys728Arg	PROT:Q99250	SCN2A	C	728	R	C728R	Pathogenic	1	1	17	42
MUT:SCN2A:Gln1478Lys	PROT:Q99250	SCN2A	Q	1478	K	Q1478K	Pathogenic	1	1	17	415
MUT:SCN2A:Gln1479His	PROT:Q99250	SCN2A	Q	1479	H	Q1479H	Likely pathogenic	1	2	17	414
MUT:SCN2A:Gln1479Lys	PROT:Q99250	SCN2A	Q	1479	K	Q1479K	Likely pathogenic	1	1	17	414
MUT:SCN2A:Gln1494Arg	PROT:Q99250	SCN2A	Q	1494	R	Q1494R	Likely pathogenic	1	1	17	399
MUT:SCN2A:Glu1133Asp	PROT:Q99250	SCN2A	E	1133	D	E1133D	Likely pathogenic	1	2	17	149
MUT:SCN2A:Glu1211Lys	PROT:Q99250	SCN2A	E	1211	K	E1211K	Pathogenic/Likely pathogenic	1	4	17	227
MUT:SCN2A:Glu1551Gly	PROT:Q99250	SCN2A	E	1551	G	E1551G	Likely pathogenic	1	1	17	342
MUT:SCN2A:Glu1784Lys	PROT:Q99250	SCN2A	E	1784	K	E1784K	Likely pathogenic	1	1	17	109
MUT:SCN2A:Glu1803Gly	PROT:Q99250	SCN2A	E	1803	G	E1803G	Likely pathogenic	1	2	17	90
MUT:SCN2A:Glu1880Asp	PROT:Q99250	SCN2A	E	1880	D	E1880D	Pathogenic	1	1	17	13
MUT:SCN2A:Glu1880Lys	PROT:Q99250	SCN2A	E	1880	K	E1880K	Pathogenic	1	1	17	13
MUT:SCN2A:Glu1939Gln	PROT:Q99250	SCN2A	E	1939	Q	E1939Q	Likely benign	0	1	17	4
MUT:SCN2A:Glu430Ala	PROT:Q99250	SCN2A	E	430	A	E430A	Pathogenic	1	1	17	84
MUT:SCN2A:Glu942Gln	PROT:Q99250	SCN2A	E	942	Q	E942Q	Likely pathogenic	1	1	17	42
MUT:SCN2A:Glu999Lys	PROT:Q99250	SCN2A	E	999	K	E999K	Pathogenic/Likely pathogenic	1	6	17	15
MUT:SCN2A:Gly1189Asp	PROT:Q99250	SCN2A	G	1189	D	G1189D	Likely benign	0	1	17	205
MUT:SCN2A:Gly1361Asp	PROT:Q99250	SCN2A	G	1361	D	G1361D	Likely pathogenic	1	1	17	377
MUT:SCN2A:Gly1485Asp	PROT:Q99250	SCN2A	G	1485	D	G1485D	Likely pathogenic	1	2	17	408
MUT:SCN2A:Gly1576Arg	PROT:Q99250	SCN2A	G	1576	R	G1576R	Pathogenic	1	2	17	317
MUT:SCN2A:Gly1593Arg	PROT:Q99250	SCN2A	G	1593	R	G1593R	Pathogenic	1	1	17	300
MUT:SCN2A:Gly1608Val	PROT:Q99250	SCN2A	G	1608	V	G1608V	Likely pathogenic	1	1	17	285
MUT:SCN2A:Gly1634Asp	PROT:Q99250	SCN2A	G	1634	D	G1634D	Pathogenic	1	1	17	259
MUT:SCN2A:Gly1634Val	PROT:Q99250	SCN2A	G	1634	V	G1634V	Pathogenic	1	1	17	259
MUT:SCN2A:Gly1645Arg	PROT:Q99250	SCN2A	G	1645	R	G1645R	Pathogenic	1	1	17	248
MUT:SCN2A:Gly1715Val	PROT:Q99250	SCN2A	G	1715	V	G1715V	Pathogenic	1	1	17	178
MUT:SCN2A:Gly211Asp	PROT:Q99250	SCN2A	G	211	D	G211D	Pathogenic	1	1	17	207
MUT:SCN2A:Gly266Arg	PROT:Q99250	SCN2A	G	266	R	G266R	Likely pathogenic	1	1	17	248
MUT:SCN2A:Gly659Asp	PROT:Q99250	SCN2A	G	659	D	G659D	Benign/Likely benign	0	2	17	27
MUT:SCN2A:Gly794Arg	PROT:Q99250	SCN2A	G	794	R	G794R	Likely pathogenic	1	1	17	108
MUT:SCN2A:Gly879Ala	PROT:Q99250	SCN2A	G	879	A	G879A	Likely pathogenic	1	1	17	105
MUT:SCN2A:Gly879Arg	PROT:Q99250	SCN2A	G	879	R	G879R	Pathogenic	1	2	17	105
MUT:SCN2A:Gly882Glu	PROT:Q99250	SCN2A	G	882	E	G882E	Pathogenic	1	1	17	102
MUT:SCN2A:Gly899Ser	PROT:Q99250	SCN2A	G	899	S	G899S	Pathogenic/Likely pathogenic	1	1	17	85
MUT:SCN2A:Gly970Ala	PROT:Q99250	SCN2A	G	970	A	G970A	Likely pathogenic	1	1	17	14
MUT:SCN2A:His1853Arg	PROT:Q99250	SCN2A	H	1853	R	H1853R	Pathogenic	1	1	17	40
MUT:SCN2A:His930Asp	PROT:Q99250	SCN2A	H	930	D	H930D	Likely pathogenic	1	1	17	54
MUT:SCN2A:Ile1455Asn	PROT:Q99250	SCN2A	I	1455	N	I1455N	Pathogenic	1	1	17	438
MUT:SCN2A:Ile1473Lys	PROT:Q99250	SCN2A	I	1473	K	I1473K	Likely pathogenic	1	1	17	420
MUT:SCN2A:Ile1473Met	PROT:Q99250	SCN2A	I	1473	M	I1473M	Pathogenic	1	2	17	420
MUT:SCN2A:Ile1537Thr	PROT:Q99250	SCN2A	I	1537	T	I1537T	Pathogenic	1	2	17	356
MUT:SCN2A:Ile1541Asn	PROT:Q99250	SCN2A	I	1541	N	I1541N	Likely pathogenic	1	1	17	352
MUT:SCN2A:Ile1571Thr	PROT:Q99250	SCN2A	I	1571	T	I1571T	Pathogenic	1	1	17	322
MUT:SCN2A:Ile1636Thr	PROT:Q99250	SCN2A	I	1636	T	I1636T	Likely pathogenic	1	1	17	257
MUT:SCN2A:Ile1640Phe	PROT:Q99250	SCN2A	I	1640	F	I1640F	Pathogenic/Likely pathogenic	1	1	17	253
MUT:SCN2A:Ile237Asn	PROT:Q99250	SCN2A	I	237	N	I237N	Likely pathogenic	1	1	17	233
MUT:SCN2A:Leu1280Pro	PROT:Q99250	SCN2A	L	1280	P	L1280P	Likely pathogenic	1	1	17	296
MUT:SCN2A:Leu1330Phe	PROT:Q99250	SCN2A	L	1330	F	L1330F	Pathogenic	1	2	17	346
MUT:SCN2A:Leu1342Arg	PROT:Q99250	SCN2A	L	1342	R	L1342R	Likely pathogenic	1	1	17	358
MUT:SCN2A:Leu1342Pro	PROT:Q99250	SCN2A	L	1342	P	L1342P	Pathogenic/Likely pathogenic	1	3	17	358
MUT:SCN2A:Leu1415Ile	PROT:Q99250	SCN2A	L	1415	I	L1415I	Likely pathogenic	1	1	17	431
MUT:SCN2A:Leu1467Val	PROT:Q99250	SCN2A	L	1467	V	L1467V	Pathogenic	1	1	17	426
MUT:SCN2A:Leu1563Arg	PROT:Q99250	SCN2A	L	1563	R	L1563R	Likely pathogenic	1	1	17	330
MUT:SCN2A:Leu1563Val	PROT:Q99250	SCN2A	L	1563	V	L1563V	Pathogenic	1	2	17	330
MUT:SCN2A:Leu1614Pro	PROT:Q99250	SCN2A	L	1614	P	L1614P	Likely pathogenic	1	1	17	279
MUT:SCN2A:Leu1649Pro	PROT:Q99250	SCN2A	L	1649	P	L1649P	Likely pathogenic	1	1	17	244
MUT:SCN2A:Leu1650Pro	PROT:Q99250	SCN2A	L	1650	P	L1650P	Pathogenic/Likely pathogenic	1	3	17	243
MUT:SCN2A:Leu1653Phe	PROT:Q99250	SCN2A	L	1653	F	L1653F	Pathogenic/Likely pathogenic	1	2	17	240
MUT:SCN2A:Leu1657Phe	PROT:Q99250	SCN2A	L	1657	F	L1657F	Pathogenic	1	1	17	236
MUT:SCN2A:Leu1660Val	PROT:Q99250	SCN2A	L	1660	V	L1660V	Likely pathogenic	1	1	17	233
MUT:SCN2A:Leu216Ser	PROT:Q99250	SCN2A	L	216	S	L216S	Likely pathogenic	1	1	17	212
MUT:SCN2A:Leu269Phe	PROT:Q99250	SCN2A	L	269	F	L269F	Pathogenic	1	1	17	245
MUT:SCN2A:Leu419Met	PROT:Q99250	SCN2A	L	419	M	L419M	Likely pathogenic	1	1	17	95
MUT:SCN2A:Leu436Ser	PROT:Q99250	SCN2A	L	436	S	L436S	Pathogenic	1	1	17	78
MUT:SCN2A:Leu846Phe	PROT:Q99250	SCN2A	L	846	F	L846F	Pathogenic	1	1	17	138
MUT:SCN2A:Leu886Ser	PROT:Q99250	SCN2A	L	886	S	L886S	Likely pathogenic	1	2	17	98
MUT:SCN2A:Leu939Pro	PROT:Q99250	SCN2A	L	939	P	L939P	Likely pathogenic	1	1	17	45
MUT:SCN2A:Leu939Val	PROT:Q99250	SCN2A	L	939	V	L939V	Likely pathogenic	1	1	17	45
MUT:SCN2A:Lys1260Gln	PROT:Q99250	SCN2A	K	1260	Q	K1260Q	Likely pathogenic	1	1	17	276
MUT:SCN2A:Lys1260Glu	PROT:Q99250	SCN2A	K	1260	E	K1260E	Likely pathogenic	1	1	17	276
MUT:SCN2A:Lys1422Glu	PROT:Q99250	SCN2A	K	1422	E	K1422E	Pathogenic	1	1	17	438
MUT:SCN2A:Lys1480Arg	PROT:Q99250	SCN2A	K	1480	R	K1480R	Likely pathogenic	1	1	17	413
MUT:SCN2A:Lys1502Asn	PROT:Q99250	SCN2A	K	1502	N	K1502N	Likely pathogenic	1	1	17	391
MUT:SCN2A:Lys156Asn	PROT:Q99250	SCN2A	K	156	N	K156N	Pathogenic/Likely pathogenic	1	1	17	152
MUT:SCN2A:Lys905Asn	PROT:Q99250	SCN2A	K	905	N	K905N	Pathogenic	1	1	17	79
MUT:SCN2A:Lys908Arg	PROT:Q99250	SCN2A	K	908	R	K908R	Benign	0	2	17	76
MUT:SCN2A:Lys908Glu	PROT:Q99250	SCN2A	K	908	E	K908E	Likely pathogenic	1	1	17	76
MUT:SCN2A:Met1323Val	PROT:Q99250	SCN2A	M	1323	V	M1323V	Pathogenic	1	1	17	339
MUT:SCN2A:Met136Ile	PROT:Q99250	SCN2A	M	136	I	M136I	Pathogenic/Likely pathogenic	1	2	17	132
MUT:SCN2A:Met1490Val	PROT:Q99250	SCN2A	M	1490	V	M1490V	Pathogenic	1	1	17	403
MUT:SCN2A:Met1501Thr	PROT:Q99250	SCN2A	M	1501	T	M1501T	Pathogenic/Likely pathogenic	1	2	17	392
MUT:SCN2A:Met1501Val	PROT:Q99250	SCN2A	M	1501	V	M1501V	Pathogenic	1	1	17	392
MUT:SCN2A:Met1545Ile	PROT:Q99250	SCN2A	M	1545	I	M1545I	Likely pathogenic	1	1	17	348
MUT:SCN2A:Met1548Ile	PROT:Q99250	SCN2A	M	1548	I	M1548I	Likely pathogenic	1	1	17	345
MUT:SCN2A:Met1548Thr	PROT:Q99250	SCN2A	M	1548	T	M1548T	Likely pathogenic	1	1	17	345
MUT:SCN2A:Met1548Val	PROT:Q99250	SCN2A	M	1548	V	M1548V	Pathogenic/Likely pathogenic	1	1	17	345
MUT:SCN2A:Met1654Ile	PROT:Q99250	SCN2A	M	1654	I	M1654I	Likely pathogenic	1	1	17	239
MUT:SCN2A:Met1770Leu	PROT:Q99250	SCN2A	M	1770	L	M1770L	Pathogenic	1	2	17	123
MUT:SCN2A:Met1770Val	PROT:Q99250	SCN2A	M	1770	V	M1770V	Pathogenic	1	1	17	123
MUT:SCN2A:Met1872Ile	PROT:Q99250	SCN2A	M	1872	I	M1872I	Likely pathogenic	1	1	17	21
MUT:SCN2A:Met1879Thr	PROT:Q99250	SCN2A	M	1879	T	M1879T	Likely pathogenic	1	2	17	14
MUT:SCN2A:Met1Leu	PROT:Q99250	SCN2A	M	1	L	M1L	Likely pathogenic	1	1	17	3
MUT:SCN2A:Met252Val	PROT:Q99250	SCN2A	M	252	V	M252V	Pathogenic	1	2	17	248
MUT:SCN2A:Met958Val	PROT:Q99250	SCN2A	M	958	V	M958V	Likely pathogenic	1	1	17	26
MUT:SCN2A:Met965Arg	PROT:Q99250	SCN2A	M	965	R	M965R	Likely pathogenic	1	1	17	19
MUT:SCN2A:Phe1476Ile	PROT:Q99250	SCN2A	F	1476	I	F1476I	Likely pathogenic	1	1	17	417
MUT:SCN2A:Phe1489Cys	PROT:Q99250	SCN2A	F	1489	C	F1489C	Likely pathogenic	1	2	17	404
MUT:SCN2A:Phe1597Leu	PROT:Q99250	SCN2A	F	1597	L	F1597L	Pathogenic	1	2	17	296
MUT:SCN2A:Phe1651Cys	PROT:Q99250	SCN2A	F	1651	C	F1651C	Likely pathogenic	1	1	17	242
MUT:SCN2A:Phe1812Tyr	PROT:Q99250	SCN2A	F	1812	Y	F1812Y	Likely pathogenic	1	1	17	81
MUT:SCN2A:Phe186Leu	PROT:Q99250	SCN2A	F	186	L	F186L	Likely benign	0	1	17	182
MUT:SCN2A:Phe207Ser	PROT:Q99250	SCN2A	F	207	S	F207S	Likely pathogenic	1	2	17	203
MUT:SCN2A:Phe219Ser	PROT:Q99250	SCN2A	F	219	S	F219S	Likely pathogenic	1	1	17	215
MUT:SCN2A:Phe262Ser	PROT:Q99250	SCN2A	F	262	S	F262S	Pathogenic/Likely pathogenic	1	1	17	252
MUT:SCN2A:Phe328Val	PROT:Q99250	SCN2A	F	328	V	F328V	Benign/Likely benign	0	1	17	186
MUT:SCN2A:Phe936Ser	PROT:Q99250	SCN2A	F	936	S	F936S	Likely pathogenic	1	1	17	48
MUT:SCN2A:Phe978Leu	PROT:Q99250	SCN2A	F	978	L	F978L	Likely pathogenic	1	1	17	6
MUT:SCN2A:Pro1335Gln	PROT:Q99250	SCN2A	P	1335	Q	P1335Q	Likely pathogenic	1	1	17	351
MUT:SCN2A:Pro1512Ala	PROT:Q99250	SCN2A	P	1512	A	P1512A	Likely pathogenic	1	1	17	381
MUT:SCN2A:Pro1622Ser	PROT:Q99250	SCN2A	P	1622	S	P1622S	Pathogenic	1	2	17	271
MUT:SCN2A:Pro1658Ser	PROT:Q99250	SCN2A	P	1658	S	P1658S	Pathogenic	1	2	17	235
MUT:SCN2A:Pro1728Leu	PROT:Q99250	SCN2A	P	1728	L	P1728L	Likely benign	0	1	17	165
MUT:SCN2A:Pro1973Arg	PROT:Q99250	SCN2A	P	1973	R	P1973R	Likely pathogenic	1	1	17	7
MUT:SCN2A:Pro360Ser	PROT:Q99250	SCN2A	P	360	S	P360S	Pathogenic/Likely pathogenic	1	1	17	154
MUT:SCN2A:Ser1222Arg	PROT:Q99250	SCN2A	S	1222	R	S1222R	Likely pathogenic	1	1	17	238
MUT:SCN2A:Ser1656Phe	PROT:Q99250	SCN2A	S	1656	F	S1656F	Pathogenic	1	1	17	237
MUT:SCN2A:Ser1656Pro	PROT:Q99250	SCN2A	S	1656	P	S1656P	Likely pathogenic	1	1	17	237
MUT:SCN2A:Ser1758Arg	PROT:Q99250	SCN2A	S	1758	R	S1758R	Pathogenic	1	2	17	135
MUT:SCN2A:Ser1780Ile	PROT:Q99250	SCN2A	S	1780	I	S1780I	Likely pathogenic	1	1	17	113
MUT:SCN2A:Ser214Pro	PROT:Q99250	SCN2A	S	214	P	S214P	Likely pathogenic	1	1	17	210
MUT:SCN2A:Ser229Ala	PROT:Q99250	SCN2A	S	229	A	S229A	Likely pathogenic	1	1	17	225
MUT:SCN2A:Ser229Thr	PROT:Q99250	SCN2A	S	229	T	S229T	Likely pathogenic	1	1	17	225
MUT:SCN2A:Ser579Arg	PROT:Q99250	SCN2A	S	579	R	S579R	Pathogenic	1	1	17	3
MUT:SCN2A:Ser834Asn	PROT:Q99250	SCN2A	S	834	N	S834N	Likely pathogenic	1	1	17	148
MUT:SCN2A:Ser851Leu	PROT:Q99250	SCN2A	S	851	L	S851L	Likely pathogenic	1	1	17	133
MUT:SCN2A:Ser863Tyr	PROT:Q99250	SCN2A	S	863	Y	S863Y	Pathogenic	1	1	17	121
MUT:SCN2A:Ser985Phe	PROT:Q99250	SCN2A	S	985	F	S985F	Likely pathogenic	1	1	17	1
MUT:SCN2A:Ser987Asn	PROT:Q99250	SCN2A	S	987	N	S987N	Likely pathogenic	1	1	17	3
MUT:SCN2A:Ser987Ile	PROT:Q99250	SCN2A	S	987	I	S987I	Pathogenic/Likely pathogenic	1	1	17	3
MUT:SCN2A:Thr1464Ile	PROT:Q99250	SCN2A	T	1464	I	T1464I	Pathogenic/Likely pathogenic	1	1	17	429
MUT:SCN2A:Thr1623Asn	PROT:Q99250	SCN2A	T	1623	N	T1623N	Pathogenic	1	1	17	270
MUT:SCN2A:Thr1711Ala	PROT:Q99250	SCN2A	T	1711	A	T1711A	Likely pathogenic	1	1	17	182
MUT:SCN2A:Thr236Ser	PROT:Q99250	SCN2A	T	236	S	T236S	Pathogenic	1	1	17	232
MUT:SCN2A:Thr365Met	PROT:Q99250	SCN2A	T	365	M	T365M	Likely pathogenic	1	2	17	149
MUT:SCN2A:Thr773Ala	PROT:Q99250	SCN2A	T	773	A	T773A	Pathogenic	1	1	17	87
MUT:SCN2A:Thr885Asn	PROT:Q99250	SCN2A	T	885	N	T885N	Likely pathogenic	1	1	17	99
MUT:SCN2A:Thr957Asn	PROT:Q99250	SCN2A	T	957	N	T957N	Likely pathogenic	1	1	17	27
MUT:SCN2A:Trp1398Arg	PROT:Q99250	SCN2A	W	1398	R	W1398R	Likely pathogenic	1	1	17	414
MUT:SCN2A:Trp1594Arg	PROT:Q99250	SCN2A	W	1594	R	W1594R	Likely pathogenic	1	1	17	299
MUT:SCN2A:Trp1594Cys	PROT:Q99250	SCN2A	W	1594	C	W1594C	Likely pathogenic	1	1	17	299
MUT:SCN2A:Trp191Gly	PROT:Q99250	SCN2A	W	191	G	W191G	Likely pathogenic	1	2	17	187
MUT:SCN2A:Trp729Cys	PROT:Q99250	SCN2A	W	729	C	W729C	Likely pathogenic	1	1	17	43
MUT:SCN2A:Tyr1498Ser	PROT:Q99250	SCN2A	Y	1498	S	Y1498S	Likely pathogenic	1	1	17	395
MUT:SCN2A:Tyr1589Cys	PROT:Q99250	SCN2A	Y	1589	C	Y1589C	Pathogenic/Likely pathogenic	1	3	17	304
MUT:SCN2A:Tyr1771Asn	PROT:Q99250	SCN2A	Y	1771	N	Y1771N	Likely pathogenic	1	1	17	122
MUT:SCN2A:Tyr415His	PROT:Q99250	SCN2A	Y	415	H	Y415H	Likely pathogenic	1	1	17	99
MUT:SCN2A:Tyr428Cys	PROT:Q99250	SCN2A	Y	428	C	Y428C	Pathogenic	1	1	17	86
MUT:SCN2A:Tyr428Phe	PROT:Q99250	SCN2A	Y	428	F	Y428F	Likely pathogenic	1	2	17	86
MUT:SCN2A:Val1340Ile	PROT:Q99250	SCN2A	V	1340	I	V1340I	Pathogenic	1	1	17	356
MUT:SCN2A:Val1380Phe	PROT:Q99250	SCN2A	V	1380	F	V1380F	Likely pathogenic	1	1	17	396
MUT:SCN2A:Val1408Ala	PROT:Q99250	SCN2A	V	1408	A	V1408A	Pathogenic/Likely pathogenic	1	3	17	424
MUT:SCN2A:Val1601Leu	PROT:Q99250	SCN2A	V	1601	L	V1601L	Likely pathogenic	1	1	17	292
MUT:SCN2A:Val1627Leu	PROT:Q99250	SCN2A	V	1627	L	V1627L	Likely pathogenic	1	1	17	266
MUT:SCN2A:Val1928Ile	PROT:Q99250	SCN2A	V	1928	I	V1928I	Likely benign	0	1	17	9
MUT:SCN2A:Val198Asp	PROT:Q99250	SCN2A	V	198	D	V198D	Likely pathogenic	1	1	17	194
MUT:SCN2A:Val213Ala	PROT:Q99250	SCN2A	V	213	A	V213A	Pathogenic/Likely pathogenic	1	2	17	209
MUT:SCN2A:Val221Asp	PROT:Q99250	SCN2A	V	221	D	V221D	Likely pathogenic	1	1	17	217
MUT:SCN2A:Val251Ala	PROT:Q99250	SCN2A	V	251	A	V251A	Pathogenic	1	1	17	247
MUT:SCN2A:Val251Ile	PROT:Q99250	SCN2A	V	251	I	V251I	Pathogenic/Likely pathogenic	1	2	17	247
MUT:SCN2A:Val261Leu	PROT:Q99250	SCN2A	V	261	L	V261L	Pathogenic	1	2	17	253
MUT:SCN2A:Val261Met	PROT:Q99250	SCN2A	V	261	M	V261M	Pathogenic	1	8	17	253
MUT:SCN2A:Val261Ser	PROT:Q99250	SCN2A	V	261	S	V261S	Likely pathogenic	1	1	17	253
MUT:SCN2A:Val423Leu	PROT:Q99250	SCN2A	V	423	L	V423L	Pathogenic/Likely pathogenic	1	2	17	91
MUT:SCN2A:Val424Ala	PROT:Q99250	SCN2A	V	424	A	V424A	Pathogenic	1	1	17	90
MUT:SCN2A:Val424Gly	PROT:Q99250	SCN2A	V	424	G	V424G	Pathogenic	1	1	17	90
MUT:SCN2A:Val424Met	PROT:Q99250	SCN2A	V	424	M	V424M	Pathogenic	1	1	17	90
MUT:SCN2A:Val887Leu	PROT:Q99250	SCN2A	V	887	L	V887L	Pathogenic/Likely pathogenic	1	3	17	97
MUT:SCN2A:Val892Ile	PROT:Q99250	SCN2A	V	892	I	V892I	Pathogenic/Likely pathogenic	1	2	17	92
MUT:SCN2A:Val966Leu	PROT:Q99250	SCN2A	V	966	L	V966L	Likely pathogenic	1	1	17	18
MUT:SCN4B:Gly214Ser	PROT:Q8IWT1	SCN4B	G	214	S	G214S	Likely benign	0	1	1	122
MUT:SCN4B:Ile166Leu	PROT:Q8IWT1	SCN4B	I	166	L	I166L	Pathogenic	1	1	1	74
MUT:SCN4B:Val162Gly	PROT:Q8IWT1	SCN4B	V	162	G	V162G	Pathogenic	1	1	1	70
MUT:SCN8A:Ala108Val	PROT:Q9UQD0	SCN8A	A	108	V	A108V	Likely pathogenic	1	1	11	369
MUT:SCN8A:Ala1319Ser	PROT:Q9UQD0	SCN8A	A	1319	S	A1319S	Pathogenic	1	1	11	168
MUT:SCN8A:Ala1323Asp	PROT:Q9UQD0	SCN8A	A	1323	D	A1323D	Likely pathogenic	1	1	11	164
MUT:SCN8A:Ala1323Ser	PROT:Q9UQD0	SCN8A	A	1323	S	A1323S	Pathogenic/Likely pathogenic	1	2	11	164
MUT:SCN8A:Ala1323Thr	PROT:Q9UQD0	SCN8A	A	1323	T	A1323T	Pathogenic/Likely pathogenic	1	3	11	164
MUT:SCN8A:Ala1350Val	PROT:Q9UQD0	SCN8A	A	1350	V	A1350V	Pathogenic	1	1	11	137
MUT:SCN8A:Ala1422Thr	PROT:Q9UQD0	SCN8A	A	1422	T	A1422T	Likely pathogenic	1	1	11	65
MUT:SCN8A:Ala1491Val	PROT:Q9UQD0	SCN8A	A	1491	V	A1491V	Pathogenic	1	2	11	4
MUT:SCN8A:Ala1523Asp	PROT:Q9UQD0	SCN8A	A	1523	D	A1523D	Pathogenic	1	1	11	26
MUT:SCN8A:Ala1622Asp	PROT:Q9UQD0	SCN8A	A	1622	D	A1622D	Pathogenic	1	1	11	125
MUT:SCN8A:Ala1650Asp	PROT:Q9UQD0	SCN8A	A	1650	D	A1650D	Likely pathogenic	1	1	11	153
MUT:SCN8A:Ala1650Pro	PROT:Q9UQD0	SCN8A	A	1650	P	A1650P	Likely pathogenic	1	1	11	153
MUT:SCN8A:Ala1650Ser	PROT:Q9UQD0	SCN8A	A	1650	S	A1650S	Likely pathogenic	1	2	11	153
MUT:SCN8A:Ala1650Thr	PROT:Q9UQD0	SCN8A	A	1650	T	A1650T	Pathogenic	1	2	11	153
MUT:SCN8A:Ala1650Val	PROT:Q9UQD0	SCN8A	A	1650	V	A1650V	Pathogenic/Likely pathogenic	1	1	11	153
MUT:SCN8A:Ala205Glu	PROT:Q9UQD0	SCN8A	A	205	E	A205E	Likely pathogenic	1	1	11	272
MUT:SCN8A:Ala243Ser	PROT:Q9UQD0	SCN8A	A	243	S	A243S	Pathogenic	1	1	11	234
MUT:SCN8A:Ala266Thr	PROT:Q9UQD0	SCN8A	A	266	T	A266T	Likely pathogenic	1	1	11	211
MUT:SCN8A:Ala408Ser	PROT:Q9UQD0	SCN8A	A	408	S	A408S	Likely pathogenic	1	1	11	69
MUT:SCN8A:Ala413Asp	PROT:Q9UQD0	SCN8A	A	413	D	A413D	Likely pathogenic	1	1	11	64
MUT:SCN8A:Ala874Thr	PROT:Q9UQD0	SCN8A	A	874	T	A874T	Pathogenic/Likely pathogenic	1	2	11	184
MUT:SCN8A:Ala890Pro	PROT:Q9UQD0	SCN8A	A	890	P	A890P	Likely pathogenic	1	1	11	200
MUT:SCN8A:Ala974Gly	PROT:Q9UQD0	SCN8A	A	974	G	A974G	Likely pathogenic	1	1	11	284
MUT:SCN8A:Ala982Val	PROT:Q9UQD0	SCN8A	A	982	V	A982V	Pathogenic/Likely pathogenic	1	2	11	292
MUT:SCN8A:Arg1188Trp	PROT:Q9UQD0	SCN8A	R	1188	W	R1188W	Likely pathogenic	1	1	11	299
MUT:SCN8A:Arg1229His	PROT:Q9UQD0	SCN8A	R	1229	H	R1229H	Likely benign	0	1	11	258
MUT:SCN8A:Arg1506His	PROT:Q9UQD0	SCN8A	R	1506	H	R1506H	Likely benign	0	1	11	9
MUT:SCN8A:Arg1617Gln	PROT:Q9UQD0	SCN8A	R	1617	Q	R1617Q	Pathogenic	1	4	11	120
MUT:SCN8A:Arg1617Leu	PROT:Q9UQD0	SCN8A	R	1617	L	R1617L	Pathogenic/Likely pathogenic	1	2	11	120
MUT:SCN8A:Arg1620Leu	PROT:Q9UQD0	SCN8A	R	1620	L	R1620L	Pathogenic	1	1	11	123
MUT:SCN8A:Arg1620Pro	PROT:Q9UQD0	SCN8A	R	1620	P	R1620P	Pathogenic	1	1	11	123
MUT:SCN8A:Arg1626Cys	PROT:Q9UQD0	SCN8A	R	1626	C	R1626C	Pathogenic/Likely pathogenic	1	2	11	129
MUT:SCN8A:Arg1626His	PROT:Q9UQD0	SCN8A	R	1626	H	R1626H	Pathogenic/Likely pathogenic	1	3	11	129
MUT:SCN8A:Arg1872Gln	PROT:Q9UQD0	SCN8A	R	1872	Q	R1872Q	Pathogenic	1	4	11	8
MUT:SCN8A:Arg1872Leu	PROT:Q9UQD0	SCN8A	R	1872	L	R1872L	Pathogenic	1	2	11	8
MUT:SCN8A:Arg1872Trp	PROT:Q9UQD0	SCN8A	R	1872	W	R1872W	Pathogenic	1	5	11	8
MUT:SCN8A:Arg223Gly	PROT:Q9UQD0	SCN8A	R	223	G	R223G	Likely pathogenic	1	3	11	254
MUT:SCN8A:Arg223Ser	PROT:Q9UQD0	SCN8A	R	223	S	R223S	Pathogenic/Likely pathogenic	1	1	11	254
MUT:SCN8A:Arg226Gly	PROT:Q9UQD0	SCN8A	R	226	G	R226G	Likely pathogenic	1	1	11	251
MUT:SCN8A:Arg226Pro	PROT:Q9UQD0	SCN8A	R	226	P	R226P	Likely pathogenic	1	4	11	251
MUT:SCN8A:Arg475Gln	PROT:Q9UQD0	SCN8A	R	475	Q	R475Q	Likely benign	0	2	11	2
MUT:SCN8A:Arg475Trp	PROT:Q9UQD0	SCN8A	R	475	W	R475W	Likely benign	0	2	11	2
MUT:SCN8A:Arg639Cys	PROT:Q9UQD0	SCN8A	R	639	C	R639C	Likely benign	0	1	11	2
MUT:SCN8A:Arg693Trp	PROT:Q9UQD0	SCN8A	R	693	W	R693W	Likely benign	0	1	11	3
MUT:SCN8A:Arg847Pro	PROT:Q9UQD0	SCN8A	R	847	P	R847P	Pathogenic	1	1	11	157
MUT:SCN8A:Arg850Gln	PROT:Q9UQD0	SCN8A	R	850	Q	R850Q	Pathogenic/Likely pathogenic	1	5	11	160
MUT:SCN8A:Arg850Gly	PROT:Q9UQD0	SCN8A	R	850	G	R850G	Pathogenic	1	1	11	160
MUT:SCN8A:Arg850Leu	PROT:Q9UQD0	SCN8A	R	850	L	R850L	Likely pathogenic	1	1	11	160
MUT:SCN8A:Arg931Gln	PROT:Q9UQD0	SCN8A	R	931	Q	R931Q	Likely pathogenic	1	1	11	241
MUT:SCN8A:Asn1062Ser	PROT:Q9UQD0	SCN8A	N	1062	S	N1062S	Likely benign	0	1	11	372
MUT:SCN8A:Asn1091Ser	PROT:Q9UQD0	SCN8A	N	1091	S	N1091S	Likely benign	0	1	11	396
MUT:SCN8A:Asn1107His	PROT:Q9UQD0	SCN8A	N	1107	H	N1107H	Likely benign	0	1	11	380
MUT:SCN8A:Asn1318Ser	PROT:Q9UQD0	SCN8A	N	1318	S	N1318S	Likely pathogenic	1	2	11	169
MUT:SCN8A:Asn1466Lys	PROT:Q9UQD0	SCN8A	N	1466	K	N1466K	Pathogenic	1	2	11	21
MUT:SCN8A:Asn1466Ser	PROT:Q9UQD0	SCN8A	N	1466	S	N1466S	Pathogenic	1	1	11	21
MUT:SCN8A:Asn1466Thr	PROT:Q9UQD0	SCN8A	N	1466	T	N1466T	Pathogenic	1	1	11	21
MUT:SCN8A:Asn1468Ser	PROT:Q9UQD0	SCN8A	N	1468	S	N1468S	Likely pathogenic	1	1	11	19
MUT:SCN8A:Asn1490Ser	PROT:Q9UQD0	SCN8A	N	1490	S	N1490S	Likely pathogenic	1	1	11	3
MUT:SCN8A:Asn1558Lys	PROT:Q9UQD0	SCN8A	N	1558	K	N1558K	Likely pathogenic	1	1	11	61
MUT:SCN8A:Asn1759Ser	PROT:Q9UQD0	SCN8A	N	1759	S	N1759S	Likely pathogenic	1	1	11	121
MUT:SCN8A:Asn1768Asp	PROT:Q9UQD0	SCN8A	N	1768	D	N1768D	Pathogenic	1	3	11	112
MUT:SCN8A:Asn215Asp	PROT:Q9UQD0	SCN8A	N	215	D	N215D	Pathogenic	1	2	11	262
MUT:SCN8A:Asn215Ser	PROT:Q9UQD0	SCN8A	N	215	S	N215S	Likely pathogenic	1	1	11	262
MUT:SCN8A:Asn276Lys	PROT:Q9UQD0	SCN8A	N	276	K	N276K	Likely pathogenic	1	1	11	201
MUT:SCN8A:Asn534Ser	PROT:Q9UQD0	SCN8A	N	534	S	N534S	Likely benign	0	1	11	7
MUT:SCN8A:Asn984Lys	PROT:Q9UQD0	SCN8A	N	984	K	N984K	Pathogenic	1	2	11	294
MUT:SCN8A:Asp1128Glu	PROT:Q9UQD0	SCN8A	D	1128	E	D1128E	Benign	0	1	11	359
MUT:SCN8A:Asp1465Asn	PROT:Q9UQD0	SCN8A	D	1465	N	D1465N	Pathogenic/Likely pathogenic	1	1	11	22
MUT:SCN8A:Asp1465Val	PROT:Q9UQD0	SCN8A	D	1465	V	D1465V	Pathogenic	1	1	11	22
MUT:SCN8A:Asp156Glu	PROT:Q9UQD0	SCN8A	D	156	E	D156E	Likely benign	0	1	11	321
MUT:SCN8A:Asp1778Gly	PROT:Q9UQD0	SCN8A	D	1778	G	D1778G	Likely pathogenic	1	1	11	102
MUT:SCN8A:Asp1846Glu	PROT:Q9UQD0	SCN8A	D	1846	E	D1846E	Likely pathogenic	1	1	11	34
MUT:SCN8A:Asp686Asn	PROT:Q9UQD0	SCN8A	D	686	N	D686N	Benign/Likely benign	0	1	11	4
MUT:SCN8A:Asp756Asn	PROT:Q9UQD0	SCN8A	D	756	N	D756N	Pathogenic/Likely pathogenic	1	2	11	66
MUT:SCN8A:Asp836Val	PROT:Q9UQD0	SCN8A	D	836	V	D836V	Likely pathogenic	1	1	11	146
MUT:SCN8A:Cys261Phe	PROT:Q9UQD0	SCN8A	C	261	F	C261F	Likely pathogenic	1	1	11	216
MUT:SCN8A:Cys281Tyr	PROT:Q9UQD0	SCN8A	C	281	Y	C281Y	Likely pathogenic	1	1	11	196
MUT:SCN8A:Cys324Tyr	PROT:Q9UQD0	SCN8A	C	324	Y	C324Y	Pathogenic/Likely pathogenic	1	2	11	153
MUT:SCN8A:Cys912Gly	PROT:Q9UQD0	SCN8A	C	912	G	C912G	Likely pathogenic	1	1	11	222
MUT:SCN8A:Cys953Arg	PROT:Q9UQD0	SCN8A	C	953	R	C953R	Likely pathogenic	1	1	11	263
MUT:SCN8A:Cys953Tyr	PROT:Q9UQD0	SCN8A	C	953	Y	C953Y	Likely pathogenic	1	1	11	263
MUT:SCN8A:Gln1470Arg	PROT:Q9UQD0	SCN8A	Q	1470	R	Q1470R	Pathogenic/Likely pathogenic	1	1	11	17
MUT:SCN8A:Gln1470Lys	PROT:Q9UQD0	SCN8A	Q	1470	K	Q1470K	Likely pathogenic	1	1	11	17
MUT:SCN8A:Gln1501Arg	PROT:Q9UQD0	SCN8A	Q	1501	R	Q1501R	Likely pathogenic	1	1	11	4
MUT:SCN8A:Gln1801Glu	PROT:Q9UQD0	SCN8A	Q	1801	E	Q1801E	Pathogenic	1	2	11	79
MUT:SCN8A:Gln369Leu	PROT:Q9UQD0	SCN8A	Q	369	L	Q369L	Likely pathogenic	1	1	11	108
MUT:SCN8A:Gln895Glu	PROT:Q9UQD0	SCN8A	Q	895	E	Q895E	Likely pathogenic	1	1	11	205
MUT:SCN8A:Glu1039Gly	PROT:Q9UQD0	SCN8A	E	1039	G	E1039G	Likely benign	0	1	11	349
MUT:SCN8A:Glu1177Lys	PROT:Q9UQD0	SCN8A	E	1177	K	E1177K	Likely benign	0	1	11	310
MUT:SCN8A:Glu1218Lys	PROT:Q9UQD0	SCN8A	E	1218	K	E1218K	Pathogenic	1	3	11	269
MUT:SCN8A:Glu1483Lys	PROT:Q9UQD0	SCN8A	E	1483	K	E1483K	Pathogenic	1	7	11	4
MUT:SCN8A:Glu831Lys	PROT:Q9UQD0	SCN8A	E	831	K	E831K	Likely pathogenic	1	1	11	141
MUT:SCN8A:Gly1451Ser	PROT:Q9UQD0	SCN8A	G	1451	S	G1451S	Pathogenic	1	3	11	36
MUT:SCN8A:Gly1475Ala	PROT:Q9UQD0	SCN8A	G	1475	A	G1475A	Likely pathogenic	1	1	11	12
MUT:SCN8A:Gly1475Arg	PROT:Q9UQD0	SCN8A	G	1475	R	G1475R	Pathogenic/Likely pathogenic	1	5	11	12
MUT:SCN8A:Gly1496Asp	PROT:Q9UQD0	SCN8A	G	1496	D	G1496D	Pathogenic	1	1	11	1
MUT:SCN8A:Gly1655Ser	PROT:Q9UQD0	SCN8A	G	1655	S	G1655S	Likely pathogenic	1	1	11	158
MUT:SCN8A:Gly214Asp	PROT:Q9UQD0	SCN8A	G	214	D	G214D	Likely pathogenic	1	3	11	263
MUT:SCN8A:Gly269Arg	PROT:Q9UQD0	SCN8A	G	269	R	G269R	Likely pathogenic	1	1	11	208
MUT:SCN8A:Gly822Arg	PROT:Q9UQD0	SCN8A	G	822	R	G822R	Likely pathogenic	1	1	11	132
MUT:SCN8A:Gly873Arg	PROT:Q9UQD0	SCN8A	G	873	R	G873R	Pathogenic	1	1	11	183
MUT:SCN8A:Gly873Cys	PROT:Q9UQD0	SCN8A	G	873	C	G873C	Likely pathogenic	1	1	11	183
MUT:SCN8A:Gly873Ser	PROT:Q9UQD0	SCN8A	G	873	S	G873S	Pathogenic	1	1	11	183
MUT:SCN8A:Gly876Val	PROT:Q9UQD0	SCN8A	G	876	V	G876V	Likely benign	0	1	11	186
MUT:SCN8A:Gly964Arg	PROT:Q9UQD0	SCN8A	G	964	R	G964R	Pathogenic	1	2	11	274
MUT:SCN8A:Ile1087Met	PROT:Q9UQD0	SCN8A	I	1087	M	I1087M	Likely benign	0	1	11	397
MUT:SCN8A:Ile1327Val	PROT:Q9UQD0	SCN8A	I	1327	V	I1327V	Pathogenic	1	4	11	160
MUT:SCN8A:Ile1336Thr	PROT:Q9UQD0	SCN8A	I	1336	T	I1336T	Likely pathogenic	1	1	11	151
MUT:SCN8A:Ile142Val	PROT:Q9UQD0	SCN8A	I	142	V	I142V	Pathogenic/Likely pathogenic	1	4	11	335
MUT:SCN8A:Ile1464Thr	PROT:Q9UQD0	SCN8A	I	1464	T	I1464T	Likely pathogenic	1	2	11	23
MUT:SCN8A:Ile1479Thr	PROT:Q9UQD0	SCN8A	I	1479	T	I1479T	Pathogenic/Likely pathogenic	1	2	11	8
MUT:SCN8A:Ile1479Val	PROT:Q9UQD0	SCN8A	I	1479	V	I1479V	Pathogenic	1	2	11	8
MUT:SCN8A:Ile1528Asn	PROT:Q9UQD0	SCN8A	I	1528	N	I1528N	Pathogenic	1	1	11	31
MUT:SCN8A:Ile1563Val	PROT:Q9UQD0	SCN8A	I	1563	V	I1563V	Benign	0	2	11	66
MUT:SCN8A:Ile1624Ser	PROT:Q9UQD0	SCN8A	I	1624	S	I1624S	Likely pathogenic	1	1	11	127
MUT:SCN8A:Ile1627Asn	PROT:Q9UQD0	SCN8A	I	1627	N	I1627N	Pathogenic/Likely pathogenic	1	1	11	130
MUT:SCN8A:Ile1627Thr	PROT:Q9UQD0	SCN8A	I	1627	T	I1627T	Likely pathogenic	1	2	11	130
MUT:SCN8A:Ile1631Met	PROT:Q9UQD0	SCN8A	I	1631	M	I1631M	Pathogenic	1	1	11	134
MUT:SCN8A:Ile1631Thr	PROT:Q9UQD0	SCN8A	I	1631	T	I1631T	Likely pathogenic	1	2	11	134
MUT:SCN8A:Ile1762Leu	PROT:Q9UQD0	SCN8A	I	1762	L	I1762L	Pathogenic/Likely pathogenic	1	2	11	118
MUT:SCN8A:Ile1764Val	PROT:Q9UQD0	SCN8A	I	1764	V	I1764V	Likely pathogenic	1	1	11	116
MUT:SCN8A:Ile240Phe	PROT:Q9UQD0	SCN8A	I	240	F	I240F	Likely pathogenic	1	2	11	237
MUT:SCN8A:Ile240Thr	PROT:Q9UQD0	SCN8A	I	240	T	I240T	Likely pathogenic	1	1	11	237
MUT:SCN8A:Ile240Val	PROT:Q9UQD0	SCN8A	I	240	V	I240V	Pathogenic/Likely pathogenic	1	2	11	237
MUT:SCN8A:Ile700Leu	PROT:Q9UQD0	SCN8A	I	700	L	I700L	Benign/Likely benign	0	1	11	10
MUT:SCN8A:Ile761Val	PROT:Q9UQD0	SCN8A	I	761	V	I761V	Likely benign	0	1	11	71
MUT:SCN8A:Ile763Val	PROT:Q9UQD0	SCN8A	I	763	V	I763V	Pathogenic/Likely pathogenic	1	3	11	73
MUT:SCN8A:Ile868Thr	PROT:Q9UQD0	SCN8A	I	868	T	I868T	Pathogenic/Likely pathogenic	1	1	11	178
MUT:SCN8A:Ile938Phe	PROT:Q9UQD0	SCN8A	I	938	F	I938F	Likely pathogenic	1	1	11	248
MUT:SCN8A:Leu1331Val	PROT:Q9UQD0	SCN8A	L	1331	V	L1331V	Pathogenic	1	2	11	156
MUT:SCN8A:Leu1332Pro	PROT:Q9UQD0	SCN8A	L	1332	P	L1332P	Pathogenic/Likely pathogenic	1	2	11	155
MUT:SCN8A:Leu1348Phe	PROT:Q9UQD0	SCN8A	L	1348	F	L1348F	Likely pathogenic	1	1	11	139
MUT:SCN8A:Leu1531Phe	PROT:Q9UQD0	SCN8A	L	1531	F	L1531F	Likely benign	0	1	11	34
MUT:SCN8A:Leu1595Pro	PROT:Q9UQD0	SCN8A	L	1595	P	L1595P	Likely pathogenic	1	1	11	98
MUT:SCN8A:Leu1621Phe	PROT:Q9UQD0	SCN8A	L	1621	F	L1621F	Pathogenic	1	1	11	124
MUT:SCN8A:Leu1621Trp	PROT:Q9UQD0	SCN8A	L	1621	W	L1621W	Pathogenic/Likely pathogenic	1	2	11	124
MUT:SCN8A:Leu1628Ser	PROT:Q9UQD0	SCN8A	L	1628	S	L1628S	Likely pathogenic	1	1	11	131
MUT:SCN8A:Leu1630Pro	PROT:Q9UQD0	SCN8A	L	1630	P	L1630P	Pathogenic	1	1	11	133
MUT:SCN8A:Leu1766Arg	PROT:Q9UQD0	SCN8A	L	1766	R	L1766R	Likely pathogenic	1	1	11	114
MUT:SCN8A:Leu1865Pro	PROT:Q9UQD0	SCN8A	L	1865	P	L1865P	Pathogenic	1	1	11	15
MUT:SCN8A:Leu251Val	PROT:Q9UQD0	SCN8A	L	251	V	L251V	Likely pathogenic	1	1	11	226
MUT:SCN8A:Leu267Ser	PROT:Q9UQD0	SCN8A	L	267	S	L267S	Pathogenic	1	1	11	210
MUT:SCN8A:Leu363Val	PROT:Q9UQD0	SCN8A	L	363	V	L363V	Likely pathogenic	1	1	11	114
MUT:SCN8A:Leu375Ser	PROT:Q9UQD0	SCN8A	L	375	S	L375S	Pathogenic	1	1	11	102
MUT:SCN8A:Leu407Met	PROT:Q9UQD0	SCN8A	L	407	M	L407M	Likely pathogenic	1	1	11	70
MUT:SCN8A:Leu556Val	PROT:Q9UQD0	SCN8A	L	556	V	L556V	Likely benign	0	1	11	5
MUT:SCN8A:Leu633Val	PROT:Q9UQD0	SCN8A	L	633	V	L633V	Benign	0	1	11	8
MUT:SCN8A:Leu840Arg	PROT:Q9UQD0	SCN8A	L	840	R	L840R	Likely pathogenic	1	1	11	150
MUT:SCN8A:Leu840Phe	PROT:Q9UQD0	SCN8A	L	840	F	L840F	Likely pathogenic	1	1	11	150
MUT:SCN8A:Leu849His	PROT:Q9UQD0	SCN8A	L	849	H	L849H	Likely pathogenic	1	1	11	159
MUT:SCN8A:Leu878Pro	PROT:Q9UQD0	SCN8A	L	878	P	L878P	Likely pathogenic	1	1	11	188
MUT:SCN8A:Leu933Phe	PROT:Q9UQD0	SCN8A	L	933	F	L933F	Pathogenic	1	1	11	243
MUT:SCN8A:Lys1413Glu	PROT:Q9UQD0	SCN8A	K	1413	E	K1413E	Likely pathogenic	1	1	11	74
MUT:SCN8A:Lys1487Met	PROT:Q9UQD0	SCN8A	K	1487	M	K1487M	Likely pathogenic	1	1	11	0
MUT:SCN8A:Lys1880Asn	PROT:Q9UQD0	SCN8A	K	1880	N	K1880N	Pathogenic	1	1	11	0
MUT:SCN8A:Met1084Val	PROT:Q9UQD0	SCN8A	M	1084	V	M1084V	Likely pathogenic	1	1	11	394
MUT:SCN8A:Met139Ile	PROT:Q9UQD0	SCN8A	M	139	I	M139I	Pathogenic	1	3	11	338
MUT:SCN8A:Met1481Lys	PROT:Q9UQD0	SCN8A	M	1481	K	M1481K	Likely pathogenic	1	4	11	6
MUT:SCN8A:Met149Val	PROT:Q9UQD0	SCN8A	M	149	V	M149V	Likely pathogenic	1	2	11	328
MUT:SCN8A:Met1530Ile	PROT:Q9UQD0	SCN8A	M	1530	I	M1530I	Benign	0	2	11	33
MUT:SCN8A:Met1600Ile	PROT:Q9UQD0	SCN8A	M	1600	I	M1600I	Pathogenic/Likely pathogenic	1	1	11	103
MUT:SCN8A:Met1645Arg	PROT:Q9UQD0	SCN8A	M	1645	R	M1645R	Pathogenic	1	1	11	148
MUT:SCN8A:Met1645Ile	PROT:Q9UQD0	SCN8A	M	1645	I	M1645I	Likely pathogenic	1	2	11	148
MUT:SCN8A:Met1645Val	PROT:Q9UQD0	SCN8A	M	1645	V	M1645V	Likely pathogenic	1	1	11	148
MUT:SCN8A:Met1646Thr	PROT:Q9UQD0	SCN8A	M	1646	T	M1646T	Likely pathogenic	1	1	11	149
MUT:SCN8A:Met1695Thr	PROT:Q9UQD0	SCN8A	M	1695	T	M1695T	Likely pathogenic	1	1	11	185
MUT:SCN8A:Met1760Thr	PROT:Q9UQD0	SCN8A	M	1760	T	M1760T	Likely pathogenic	1	1	11	120
MUT:SCN8A:Met1760Val	PROT:Q9UQD0	SCN8A	M	1760	V	M1760V	Likely pathogenic	1	1	11	120
MUT:SCN8A:Met1869Thr	PROT:Q9UQD0	SCN8A	M	1869	T	M1869T	Pathogenic/Likely pathogenic	1	1	11	11
MUT:SCN8A:Met1869Val	PROT:Q9UQD0	SCN8A	M	1869	V	M1869V	Likely pathogenic	1	2	11	11
MUT:SCN8A:Met255Ile	PROT:Q9UQD0	SCN8A	M	255	I	M255I	Likely pathogenic	1	1	11	222
MUT:SCN8A:Met367Ile	PROT:Q9UQD0	SCN8A	M	367	I	M367I	Likely pathogenic	1	1	11	110
MUT:SCN8A:Met367Thr	PROT:Q9UQD0	SCN8A	M	367	T	M367T	Pathogenic	1	1	11	110
MUT:SCN8A:Phe1459Leu	PROT:Q9UQD0	SCN8A	F	1459	L	F1459L	Pathogenic	1	1	11	28
MUT:SCN8A:Phe1467Val	PROT:Q9UQD0	SCN8A	F	1467	V	F1467V	Likely pathogenic	1	1	11	20
MUT:SCN8A:Phe1480Val	PROT:Q9UQD0	SCN8A	F	1480	V	F1480V	Pathogenic	1	1	11	7
MUT:SCN8A:Phe1581Tyr	PROT:Q9UQD0	SCN8A	F	1581	Y	F1581Y	Likely benign	0	1	11	84
MUT:SCN8A:Phe199Cys	PROT:Q9UQD0	SCN8A	F	199	C	F199C	Pathogenic	1	2	11	278
MUT:SCN8A:Phe260Ser	PROT:Q9UQD0	SCN8A	F	260	S	F260S	Pathogenic	1	2	11	217
MUT:SCN8A:Phe260Val	PROT:Q9UQD0	SCN8A	F	260	V	F260V	Likely pathogenic	1	1	11	217
MUT:SCN8A:Phe360Ser	PROT:Q9UQD0	SCN8A	F	360	S	F360S	Likely pathogenic	1	1	11	117
MUT:SCN8A:Phe846Ser	PROT:Q9UQD0	SCN8A	F	846	S	F846S	Pathogenic	1	2	11	156
MUT:SCN8A:Pro11Thr	PROT:Q9UQD0	SCN8A	P	11	T	P11T	Likely benign	0	1	11	466
MUT:SCN8A:Pro1649His	PROT:Q9UQD0	SCN8A	P	1649	H	P1649H	Likely benign	0	1	11	152
MUT:SCN8A:Pro1719Arg	PROT:Q9UQD0	SCN8A	P	1719	R	P1719R	Pathogenic	1	2	11	161
MUT:SCN8A:Pro1878Arg	PROT:Q9UQD0	SCN8A	P	1878	R	P1878R	Pathogenic	1	1	11	2
MUT:SCN8A:Pro1878Ser	PROT:Q9UQD0	SCN8A	P	1878	S	P1878S	Likely pathogenic	1	1	11	2
MUT:SCN8A:Pro1939Leu	PROT:Q9UQD0	SCN8A	P	1939	L	P1939L	Likely pathogenic	1	1	11	59
MUT:SCN8A:Pro604Ser	PROT:Q9UQD0	SCN8A	P	604	S	P604S	Likely benign	0	1	11	37
MUT:SCN8A:Pro720Leu	PROT:Q9UQD0	SCN8A	P	720	L	P720L	Likely benign	0	1	11	30
MUT:SCN8A:Pro859Ser	PROT:Q9UQD0	SCN8A	P	859	S	P859S	Likely pathogenic	1	1	11	169
MUT:SCN8A:Ser1068Asn	PROT:Q9UQD0	SCN8A	S	1068	N	S1068N	Likely benign	0	1	11	378
MUT:SCN8A:Ser1596Cys	PROT:Q9UQD0	SCN8A	S	1596	C	S1596C	Pathogenic	1	2	11	99
MUT:SCN8A:Ser327Arg	PROT:Q9UQD0	SCN8A	S	327	R	S327R	Likely pathogenic	1	1	11	150
MUT:SCN8A:Ser541Ala	PROT:Q9UQD0	SCN8A	S	541	A	S541A	Likely benign	0	1	11	0
MUT:SCN8A:Ser845Cys	PROT:Q9UQD0	SCN8A	S	845	C	S845C	Likely pathogenic	1	2	11	155
MUT:SCN8A:Ser845Phe	PROT:Q9UQD0	SCN8A	S	845	F	S845F	Likely pathogenic	1	3	11	155
MUT:SCN8A:Ser845Pro	PROT:Q9UQD0	SCN8A	S	845	P	S845P	Likely pathogenic	1	1	11	155
MUT:SCN8A:Ser978Arg	PROT:Q9UQD0	SCN8A	S	978	R	S978R	Likely pathogenic	1	1	11	288
MUT:SCN8A:Ser978Gly	PROT:Q9UQD0	SCN8A	S	978	G	S978G	Pathogenic/Likely pathogenic	1	2	11	288
MUT:SCN8A:Ser979Asn	PROT:Q9UQD0	SCN8A	S	979	N	S979N	Likely pathogenic	1	4	11	289
MUT:SCN8A:Ser979Phe	PROT:Q9UQD0	SCN8A	S	979	F	S979F	Pathogenic	1	1	11	289
MUT:SCN8A:Ser981Ile	PROT:Q9UQD0	SCN8A	S	981	I	S981I	Pathogenic	1	1	11	291
MUT:SCN8A:Ser981Thr	PROT:Q9UQD0	SCN8A	S	981	T	S981T	Likely pathogenic	1	1	11	291
MUT:SCN8A:Thr1011Ile	PROT:Q9UQD0	SCN8A	T	1011	I	T1011I	Likely benign	0	1	11	321
MUT:SCN8A:Thr1360Asn	PROT:Q9UQD0	SCN8A	T	1360	N	T1360N	Likely pathogenic	1	1	11	127
MUT:SCN8A:Thr1482Asn	PROT:Q9UQD0	SCN8A	T	1482	N	T1482N	Pathogenic/Likely pathogenic	1	2	11	5
MUT:SCN8A:Thr1538Ala	PROT:Q9UQD0	SCN8A	T	1538	A	T1538A	Likely pathogenic	1	1	11	41
MUT:SCN8A:Thr1538Lys	PROT:Q9UQD0	SCN8A	T	1538	K	T1538K	Pathogenic	1	1	11	41
MUT:SCN8A:Thr1614Asn	PROT:Q9UQD0	SCN8A	T	1614	N	T1614N	Likely pathogenic	1	1	11	117
MUT:SCN8A:Thr1787Asn	PROT:Q9UQD0	SCN8A	T	1787	N	T1787N	Pathogenic/Likely pathogenic	1	2	11	93
MUT:SCN8A:Thr258Ile	PROT:Q9UQD0	SCN8A	T	258	I	T258I	Likely pathogenic	1	2	11	219
MUT:SCN8A:Thr368Ile	PROT:Q9UQD0	SCN8A	T	368	I	T368I	Likely pathogenic	1	1	11	109
MUT:SCN8A:Thr767Ile	PROT:Q9UQD0	SCN8A	T	767	I	T767I	Pathogenic/Likely pathogenic	1	3	11	77
MUT:SCN8A:Tyr169Cys	PROT:Q9UQD0	SCN8A	Y	169	C	Y169C	Likely pathogenic	1	1	11	308
MUT:SCN8A:Tyr1761Cys	PROT:Q9UQD0	SCN8A	Y	1761	C	Y1761C	Pathogenic	1	1	11	119
MUT:SCN8A:Tyr401Cys	PROT:Q9UQD0	SCN8A	Y	401	C	Y401C	Pathogenic	1	1	11	76
MUT:SCN8A:Tyr401His	PROT:Q9UQD0	SCN8A	Y	401	H	Y401H	Likely pathogenic	1	2	11	76
MUT:SCN8A:Tyr401Ser	PROT:Q9UQD0	SCN8A	Y	401	S	Y401S	Likely pathogenic	1	1	11	76
MUT:SCN8A:Val1148Met	PROT:Q9UQD0	SCN8A	V	1148	M	V1148M	Likely benign	0	2	11	339
MUT:SCN8A:Val1315Ala	PROT:Q9UQD0	SCN8A	V	1315	A	V1315A	Pathogenic/Likely pathogenic	1	2	11	172
MUT:SCN8A:Val1315Leu	PROT:Q9UQD0	SCN8A	V	1315	L	V1315L	Pathogenic/Likely pathogenic	1	1	11	172
MUT:SCN8A:Val1315Met	PROT:Q9UQD0	SCN8A	V	1315	M	V1315M	Pathogenic	1	2	11	172
MUT:SCN8A:Val1316Met	PROT:Q9UQD0	SCN8A	V	1316	M	V1316M	Likely pathogenic	1	1	11	171
MUT:SCN8A:Val1330Met	PROT:Q9UQD0	SCN8A	V	1330	M	V1330M	Pathogenic	1	1	11	157
MUT:SCN8A:Val1462Ile	PROT:Q9UQD0	SCN8A	V	1462	I	V1462I	Pathogenic/Likely pathogenic	1	2	11	25
MUT:SCN8A:Val1515Ile	PROT:Q9UQD0	SCN8A	V	1515	I	V1515I	Benign	0	1	11	18
MUT:SCN8A:Val1592Leu	PROT:Q9UQD0	SCN8A	V	1592	L	V1592L	Likely pathogenic	1	1	11	95
MUT:SCN8A:Val1757Asp	PROT:Q9UQD0	SCN8A	V	1757	D	V1757D	Likely pathogenic	1	1	11	123
MUT:SCN8A:Val1874Gly	PROT:Q9UQD0	SCN8A	V	1874	G	V1874G	Likely benign	0	1	11	6
MUT:SCN8A:Val211Gly	PROT:Q9UQD0	SCN8A	V	211	G	V211G	Pathogenic	1	1	11	266
MUT:SCN8A:Val216Gly	PROT:Q9UQD0	SCN8A	V	216	G	V216G	Likely pathogenic	1	1	11	261
MUT:SCN8A:Val254Gly	PROT:Q9UQD0	SCN8A	V	254	G	V254G	Likely pathogenic	1	1	11	223
MUT:SCN8A:Val409Ala	PROT:Q9UQD0	SCN8A	V	409	A	V409A	Pathogenic/Likely pathogenic	1	3	11	68
MUT:SCN8A:Val409Leu	PROT:Q9UQD0	SCN8A	V	409	L	V409L	Likely pathogenic	1	1	11	68
MUT:SCN8A:Val410Met	PROT:Q9UQD0	SCN8A	V	410	M	V410M	Likely pathogenic	1	1	11	67
MUT:SCN8A:Val881Leu	PROT:Q9UQD0	SCN8A	V	881	L	V881L	Likely pathogenic	1	1	11	191
MUT:SCN8A:Val891Met	PROT:Q9UQD0	SCN8A	V	891	M	V891M	Pathogenic/Likely pathogenic	1	2	11	201
MUT:SCN8A:Val892Ala	PROT:Q9UQD0	SCN8A	V	892	A	V892A	Pathogenic/Likely pathogenic	1	1	11	202
MUT:SCN8A:Val892Gly	PROT:Q9UQD0	SCN8A	V	892	G	V892G	Likely pathogenic	1	1	11	202
MUT:SCN8A:Val892Met	PROT:Q9UQD0	SCN8A	V	892	M	V892M	Pathogenic	1	1	11	202
MUT:SCN8A:Val960Asp	PROT:Q9UQD0	SCN8A	V	960	D	V960D	Pathogenic	1	1	11	270
MUT:SCN8A:Val967Gly	PROT:Q9UQD0	SCN8A	V	967	G	V967G	Likely pathogenic	1	1	11	277
MUT:SCNM1:Pro51Gln	PROT:Q9BWG6	SCNM1	P	51	Q	P51Q	Pathogenic	1	1	7	34
MUT:SCNN1B:Ala61Thr	PROT:P51168	SCNN1B	A	61	T	A61T	Likely benign	0	1	5	235
MUT:SCNN1B:Arg388Cys	PROT:P51168	SCNN1B	R	388	C	R388C	Benign/Likely benign	0	3	5	38
MUT:SCNN1B:Asn496Ser	PROT:P51168	SCNN1B	N	496	S	N496S	Likely pathogenic	1	1	5	65
MUT:SCNN1B:Glu539Lys	PROT:P51168	SCNN1B	E	539	K	E539K	Pathogenic	1	1	5	22
MUT:SCNN1B:Gly37Ser	PROT:P51168	SCNN1B	G	37	S	G37S	Benign	0	3	5	259
MUT:SCNN1B:Gly442Ser	PROT:P51168	SCNN1B	G	442	S	G442S	Likely benign	0	1	5	92
MUT:SCNN1B:Gly442Val	PROT:P51168	SCNN1B	G	442	V	G442V	Benign	0	3	5	92
MUT:SCNN1B:Gly589Ser	PROT:P51168	SCNN1B	G	589	S	G589S	Benign/Likely benign	0	4	5	26
MUT:SCNN1B:Ile492Val	PROT:P51168	SCNN1B	I	492	V	I492V	Likely benign	0	1	5	69
MUT:SCNN1B:Leu537Phe	PROT:P51168	SCNN1B	L	537	F	L537F	Likely pathogenic	1	1	5	24
MUT:SCNN1B:Leu628Gln	PROT:P51168	SCNN1B	L	628	Q	L628Q	Benign/Likely benign	0	4	5	7
MUT:SCNN1B:Pro267Leu	PROT:P51168	SCNN1B	P	267	L	P267L	Likely pathogenic	1	1	5	29
MUT:SCNN1B:Pro616Arg	PROT:P51168	SCNN1B	P	616	R	P616R	Pathogenic	1	1	5	1
MUT:SCNN1B:Pro616Leu	PROT:P51168	SCNN1B	P	616	L	P616L	Pathogenic/Likely pathogenic	1	1	5	1
MUT:SCNN1B:Pro617Leu	PROT:P51168	SCNN1B	P	617	L	P617L	Pathogenic	1	1	5	2
MUT:SCNN1B:Pro617Ser	PROT:P51168	SCNN1B	P	617	S	P617S	Pathogenic/Likely pathogenic	1	1	5	2
MUT:SCNN1B:Pro618Arg	PROT:P51168	SCNN1B	P	618	R	P618R	Likely pathogenic	1	1	5	3
MUT:SCNN1B:Pro618Ser	PROT:P51168	SCNN1B	P	618	S	P618S	Pathogenic/Likely pathogenic	1	1	5	3
MUT:SCNN1B:Ser197Thr	PROT:P51168	SCNN1B	S	197	T	S197T	Likely benign	0	1	5	99
MUT:SCNN1B:Tyr219Asp	PROT:P51168	SCNN1B	Y	219	D	Y219D	Likely pathogenic	1	1	5	77
MUT:SCNN1B:Tyr620His	PROT:P51168	SCNN1B	Y	620	H	Y620H	Pathogenic	1	1	5	5
MUT:SCO1:Gly132Ser	PROT:O75880	SCO1	G	132	S	G132S	Pathogenic	1	1	11	1
MUT:SCO1:Gly229Ser	PROT:O75880	SCO1	G	229	S	G229S	Likely pathogenic	1	1	11	1
MUT:SCO1:Gly56Glu	PROT:O75880	SCO1	G	56	E	G56E	Likely benign	0	2	11	33
MUT:SCO1:Pro174Leu	PROT:O75880	SCO1	P	174	L	P174L	Pathogenic/Likely pathogenic	1	1	11	15
MUT:SCO1:Pro58Ser	PROT:O75880	SCO1	P	58	S	P58S	Benign/Likely benign	0	2	11	31
MUT:SCO1:Val172Ile	PROT:O75880	SCO1	V	172	I	V172I	Likely benign	0	1	11	17
MUT:SCYL2:Asn916Ser	PROT:Q6P3W7	SCYL2	N	916	S	N916S	Likely benign	0	1	12	165
MUT:SCYL2:Ile615Met	PROT:Q6P3W7	SCYL2	I	615	M	I615M	Likely benign	0	1	12	7
MUT:SCYL2:Ile754Leu	PROT:Q6P3W7	SCYL2	I	754	L	I754L	Likely benign	0	1	12	3
MUT:SCYL2:Leu410Ile	PROT:Q6P3W7	SCYL2	L	410	I	L410I	Likely benign	0	1	12	28
MUT:SCYL2:Val888Met	PROT:Q6P3W7	SCYL2	V	888	M	V888M	Likely benign	0	1	12	137
MUT:SDC1:Ser63Phe	PROT:P18827	SDC1	S	63	F	S63F	Likely benign	0	1	4	229
MUT:SDE2:Arg422Gln	PROT:Q6IQ49	SDE2	R	422	Q	R422Q	Likely benign	0	1	15	49
MUT:SDHAF2:Ala15Val	PROT:Q9NX18	SDHAF2	A	15	V	A15V	Likely benign	0	1	3	51
MUT:SDHAF2:Ala90Val	PROT:Q9NX18	SDHAF2	A	90	V	A90V	Benign/Likely benign	0	3	3	10
MUT:SDHAF2:Arg107Cys	PROT:Q9NX18	SDHAF2	R	107	C	R107C	Benign/Likely benign	0	3	3	7
MUT:SDHAF2:Arg33Cys	PROT:Q9NX18	SDHAF2	R	33	C	R33C	Benign/Likely benign	0	2	3	33
MUT:SDHAF2:Gly78Arg	PROT:Q9NX18	SDHAF2	G	78	R	G78R	Pathogenic	1	3	3	12
MUT:SDHAF2:Ser11Leu	PROT:Q9NX18	SDHAF2	S	11	L	S11L	Benign/Likely benign	0	4	3	55
MUT:SDHAF2:Ser8Pro	PROT:Q9NX18	SDHAF2	S	8	P	S8P	Likely benign	0	1	3	58
MUT:SDHC:Arg50Cys	PROT:Q99643	SDHC	R	50	C	R50C	Pathogenic/Likely pathogenic	1	4	2	15
MUT:SDHC:Arg50Ser	PROT:Q99643	SDHC	R	50	S	R50S	Likely pathogenic	1	1	2	15
MUT:SDHC:Arg72Cys	PROT:Q99643	SDHC	R	72	C	R72C	Pathogenic/Likely pathogenic	1	2	2	37
MUT:SDHC:Arg72His	PROT:Q99643	SDHC	R	72	H	R72H	Pathogenic/Likely pathogenic	1	4	2	37
MUT:SDHC:Arg72Leu	PROT:Q99643	SDHC	R	72	L	R72L	Pathogenic	1	1	2	37
MUT:SDHC:Arg7Lys	PROT:Q99643	SDHC	R	7	K	R7K	Likely pathogenic	1	1	2	28
MUT:SDHC:Gly75Arg	PROT:Q99643	SDHC	G	75	R	G75R	Likely pathogenic	1	1	2	40
MUT:SDHC:Gly75Asp	PROT:Q99643	SDHC	G	75	D	G75D	Pathogenic/Likely pathogenic	1	2	2	40
MUT:SDHC:His127Arg	PROT:Q99643	SDHC	H	127	R	H127R	Pathogenic/Likely pathogenic	1	5	2	14
MUT:SDHC:His127Asn	PROT:Q99643	SDHC	H	127	N	H127N	Likely pathogenic	1	1	2	14
MUT:SDHC:His127Tyr	PROT:Q99643	SDHC	H	127	Y	H127Y	Pathogenic	1	2	2	14
MUT:SDHC:Ile24Val	PROT:Q99643	SDHC	I	24	V	I24V	Likely benign	0	1	2	11
MUT:SDHC:Met1Arg	PROT:Q99643	SDHC	M	1	R	M1R	Pathogenic	1	1	2	34
MUT:SDHC:Met1Ile	PROT:Q99643	SDHC	M	1	I	M1I	Pathogenic	1	1	2	34
MUT:SDHC:Met1Leu	PROT:Q99643	SDHC	M	1	L	M1L	Pathogenic	1	3	2	34
MUT:SDHC:Met1Lys	PROT:Q99643	SDHC	M	1	K	M1K	Likely pathogenic	1	1	2	34
MUT:SDHC:Met1Thr	PROT:Q99643	SDHC	M	1	T	M1T	Pathogenic	1	1	2	34
MUT:SDHC:Met1Val	PROT:Q99643	SDHC	M	1	V	M1V	Pathogenic	1	2	2	34
MUT:SDHC:Tyr126Cys	PROT:Q99643	SDHC	Y	126	C	Y126C	Pathogenic/Likely pathogenic	1	6	2	15
MUT:SDK1:Ala317Val	PROT:Q7Z5N4	SDK1	A	317	V	A317V	Benign	0	2	6	118
MUT:SDK1:Ala364Val	PROT:Q7Z5N4	SDK1	A	364	V	A364V	Likely benign	0	7	6	71
MUT:SDK2:Arg2152His	PROT:Q58EX2	SDK2	R	2152	H	R2152H	Likely benign	0	1	5	107
MUT:SDK2:Arg547Leu	PROT:Q58EX2	SDK2	R	547	L	R547L	Likely benign	0	4	5	522
MUT:SDK2:Gln916Arg	PROT:Q58EX2	SDK2	Q	916	R	Q916R	Likely benign	0	1	5	891
MUT:SDK2:Pro1059Leu	PROT:Q58EX2	SDK2	P	1059	L	P1059L	Likely benign	0	1	5	944
MUT:SDK2:Ser1430Cys	PROT:Q58EX2	SDK2	S	1430	C	S1430C	Benign	0	1	5	573
MUT:SDK2:Ser259Leu	PROT:Q58EX2	SDK2	S	259	L	S259L	Benign	0	1	5	234
MUT:SDK2:Ser816Arg	PROT:Q58EX2	SDK2	S	816	R	S816R	Likely benign	0	1	5	791
MUT:SEC23A:Glu599Lys	PROT:Q15436	SEC23A	E	599	K	E599K	Likely pathogenic	1	1	11	37
MUT:SEC23A:Leu211Val	PROT:Q15436	SEC23A	L	211	V	L211V	Benign	0	1	11	26
MUT:SEC23A:Phe382Leu	PROT:Q15436	SEC23A	F	382	L	F382L	Pathogenic	1	1	11	10
MUT:SEC23B:Ala506Val	PROT:Q15437	SEC23B	A	506	V	A506V	Likely pathogenic	1	1	20	52
MUT:SEC23B:Ala524Thr	PROT:Q15437	SEC23B	A	524	T	A524T	Likely pathogenic	1	1	20	34
MUT:SEC23B:Ala524Val	PROT:Q15437	SEC23B	A	524	V	A524V	Pathogenic/Likely pathogenic	1	1	20	34
MUT:SEC23B:Arg14Trp	PROT:Q15437	SEC23B	R	14	W	R14W	Pathogenic/Likely pathogenic	1	2	20	12
MUT:SEC23B:Arg313His	PROT:Q15437	SEC23B	R	313	H	R313H	Pathogenic/Likely pathogenic	1	1	20	4
MUT:SEC23B:Arg495His	PROT:Q15437	SEC23B	R	495	H	R495H	Benign/Likely benign	0	1	20	63
MUT:SEC23B:Arg497Cys	PROT:Q15437	SEC23B	R	497	C	R497C	Pathogenic	1	2	20	61
MUT:SEC23B:Arg530Gln	PROT:Q15437	SEC23B	R	530	Q	R530Q	Likely pathogenic	1	1	20	28
MUT:SEC23B:Arg550Gln	PROT:Q15437	SEC23B	R	550	Q	R550Q	Benign/Likely benign	0	2	20	8
MUT:SEC23B:Arg701Cys	PROT:Q15437	SEC23B	R	701	C	R701C	Pathogenic/Likely pathogenic	1	1	20	14
MUT:SEC23B:Glu109Lys	PROT:Q15437	SEC23B	E	109	K	E109K	Pathogenic	1	3	20	28
MUT:SEC23B:His489Gln	PROT:Q15437	SEC23B	H	489	Q	H489Q	Benign	0	2	20	58
MUT:SEC23B:Ile318Thr	PROT:Q15437	SEC23B	I	318	T	I318T	Pathogenic/Likely pathogenic	1	1	20	2
MUT:SEC23B:Leu578Pro	PROT:Q15437	SEC23B	L	578	P	L578P	Pathogenic	1	2	20	14
MUT:SEC23B:Phe656Leu	PROT:Q15437	SEC23B	F	656	L	F656L	Likely pathogenic	1	1	20	15
MUT:SEC23B:Pro433Leu	PROT:Q15437	SEC23B	P	433	L	P433L	Benign	0	1	20	2
MUT:SEC23B:Thr445Arg	PROT:Q15437	SEC23B	T	445	R	T445R	Likely pathogenic	1	1	20	14
MUT:SEC23B:Thr746Asn	PROT:Q15437	SEC23B	T	746	N	T746N	Likely pathogenic	1	1	20	31
MUT:SEC23B:Tyr579Cys	PROT:Q15437	SEC23B	Y	579	C	Y579C	Likely pathogenic	1	1	20	15
MUT:SEC23B:Val164Leu	PROT:Q15437	SEC23B	V	164	L	V164L	Benign/Likely benign	0	2	20	21
MUT:SEC23B:Val426Ile	PROT:Q15437	SEC23B	V	426	I	V426I	Benign/Likely benign	0	1	20	5
MUT:SEC31A:Thr303Lys	PROT:O94979	SEC31A	T	303	K	T303K	Likely benign	0	1	33	20
MUT:SEC61A2:Gln170Lys	PROT:Q9H9S3	SEC61A2	Q	170	K	Q170K	Likely benign	0	1	3	63
MUT:SECISBP2:Arg496His	PROT:Q96T21	SECISBP2	R	496	H	R496H	Likely benign	0	1	11	3
MUT:SECISBP2:Asn287Ser	PROT:Q96T21	SECISBP2	N	287	S	N287S	Likely benign	0	1	11	1
MUT:SECISBP2:Asp595Gly	PROT:Q96T21	SECISBP2	D	595	G	D595G	Likely benign	0	1	11	96
MUT:SECISBP2:Gln781Arg	PROT:Q96T21	SECISBP2	Q	781	R	Q781R	Likely benign	0	1	11	34
MUT:SECISBP2:Thr219Ser	PROT:Q96T21	SECISBP2	T	219	S	T219S	Likely benign	0	1	11	19
MUT:SEL1L:Cys141Tyr	PROT:Q9UBV2	SEL1L	C	141	Y	C141Y	Pathogenic	1	1	9	19
MUT:SELL:Glu201Gln	PROT:P14151	SELL	E	201	Q	E201Q	Benign	0	2	11	39
MUT:SELP:Asn673Ser	PROT:P16109	SELP	N	673	S	N673S	Benign	0	3	7	139
MUT:SELP:Asp603Asn	PROT:P16109	SELP	D	603	N	D603N	Benign	0	1	7	209
MUT:SELP:Ser331Asn	PROT:P16109	SELP	S	331	N	S331N	Benign	0	1	7	481
MUT:SELP:Thr756Pro	PROT:P16109	SELP	T	756	P	T756P	Benign	0	2	7	56
MUT:SELP:Val640Leu	PROT:P16109	SELP	V	640	L	V640L	Benign	0	2	7	172
MUT:SEMA3C:Arg165Cys	PROT:Q99985	SEMA3C	R	165	C	R165C	Likely benign	0	1	1	38
MUT:SEMA3C:Arg4Gln	PROT:Q99985	SEMA3C	R	4	Q	R4Q	Likely benign	0	1	1	199
MUT:SEMA3C:Val321Ala	PROT:Q99985	SEMA3C	V	321	A	V321A	Likely benign	0	1	1	118
MUT:SEMA3C:Val337Met	PROT:Q99985	SEMA3C	V	337	M	V337M	Benign	0	7	1	134
MUT:SEMA3E:Arg208Pro	PROT:O15041	SEMA3E	R	208	P	R208P	Benign	0	1	2	426
MUT:SEMA3E:Arg533Gln	PROT:O15041	SEMA3E	R	533	Q	R533Q	Likely benign	0	1	2	101
MUT:SEMA3E:Gly392Arg	PROT:O15041	SEMA3E	G	392	R	G392R	Likely benign	0	2	2	242
MUT:SEMA3E:Ile612Phe	PROT:O15041	SEMA3E	I	612	F	I612F	Benign/Likely benign	0	2	2	22
MUT:SEMA3E:Ile717Val	PROT:O15041	SEMA3E	I	717	V	I717V	Benign	0	1	2	48
MUT:SEMA3E:Phe246Leu	PROT:O15041	SEMA3E	F	246	L	F246L	Benign/Likely benign	0	1	2	388
MUT:SEMA3E:Ser701Ile	PROT:O15041	SEMA3E	S	701	I	S701I	Benign/Likely benign	0	6	2	32
MUT:SEMA3E:Val450Ile	PROT:O15041	SEMA3E	V	450	I	V450I	Likely benign	0	2	2	184
MUT:SEMA3E:Val578Ile	PROT:O15041	SEMA3E	V	578	I	V578I	Likely benign	0	2	2	56
MUT:SEMA3F:Ala161Val	PROT:Q13275	SEMA3F	A	161	V	A161V	Likely benign	0	1	2	317
MUT:SEMA3F:Arg175His	PROT:Q13275	SEMA3F	R	175	H	R175H	Likely benign	0	1	2	303
MUT:SEMA3F:Glu192Asp	PROT:Q13275	SEMA3F	E	192	D	E192D	Likely benign	0	1	2	286
MUT:SEMA3F:Gly113Val	PROT:Q13275	SEMA3F	G	113	V	G113V	Likely benign	0	1	2	365
MUT:SEMA3F:Gly15Arg	PROT:Q13275	SEMA3F	G	15	R	G15R	Benign	0	2	2	463
MUT:SEMA3F:Ile186Val	PROT:Q13275	SEMA3F	I	186	V	I186V	Likely benign	0	1	2	292
MUT:SEMA3F:Ile466Val	PROT:Q13275	SEMA3F	I	466	V	I466V	Likely benign	0	1	2	12
MUT:SEMA3F:Leu503Met	PROT:Q13275	SEMA3F	L	503	M	L503M	Benign	0	1	2	18
MUT:SEMA3F:Ser19Pro	PROT:Q13275	SEMA3F	S	19	P	S19P	Likely benign	0	1	2	459
MUT:SEMA3F:Val323Ile	PROT:Q13275	SEMA3F	V	323	I	V323I	Likely benign	0	1	2	155
MUT:SEMA3F:Val689Ile	PROT:Q13275	SEMA3F	V	689	I	V689I	Likely benign	0	1	2	204
MUT:SEMA4D:Ala327Thr	PROT:Q92854	SEMA4D	A	327	T	A327T	Benign	0	1	13	132
MUT:SEMA4D:Ala72Thr	PROT:Q92854	SEMA4D	A	72	T	A72T	Benign	0	1	13	123
MUT:SEMA4D:Arg562Trp	PROT:Q92854	SEMA4D	R	562	W	R562W	Benign	0	1	13	1
MUT:SEMA4D:Arg713Lys	PROT:Q92854	SEMA4D	R	713	K	R713K	Benign	0	1	13	14
MUT:SEMA4D:Gly592Asp	PROT:Q92854	SEMA4D	G	592	D	G592D	Benign	0	1	13	31
MUT:SEMA4D:Gly593Trp	PROT:Q92854	SEMA4D	G	593	W	G593W	Benign	0	1	13	32
MUT:SEMA4D:Leu532Val	PROT:Q92854	SEMA4D	L	532	V	L532V	Benign	0	1	13	15
MUT:SEMA4D:Leu728Phe	PROT:Q92854	SEMA4D	L	728	F	L728F	Benign	0	1	13	1
MUT:SEMA4D:Pro588Leu	PROT:Q92854	SEMA4D	P	588	L	P588L	Likely benign	0	1	13	27
MUT:SEMA4D:Pro703Ser	PROT:Q92854	SEMA4D	P	703	S	P703S	Benign	0	1	13	24
MUT:SEMA4D:Val248Leu	PROT:Q92854	SEMA4D	V	248	L	V248L	Benign	0	1	13	53
MUT:SEMA4D:Val530Met	PROT:Q92854	SEMA4D	V	530	M	V530M	Likely benign	0	1	13	17
MUT:SEMA5A:Ala1003Val	PROT:Q13591	SEMA5A	A	1003	V	A1003V	Likely benign	0	4	6	7
MUT:SEMA5A:Arg995Gln	PROT:Q13591	SEMA5A	R	995	Q	R995Q	Benign	0	1	6	15
MUT:SEMA5A:Val321Ile	PROT:Q13591	SEMA5A	V	321	I	V321I	Likely benign	0	1	6	215
MUT:SEMA6A:Ile423Thr	PROT:Q9H2E6	SEMA6A	I	423	T	I423T	Likely pathogenic	1	1	13	100
MUT:SEMA6D:Arg762Gln	PROT:Q8NFY4	SEMA6D	R	762	Q	R762Q	Benign	0	1	22	11
MUT:SEMA6D:Asn307Ser	PROT:Q8NFY4	SEMA6D	N	307	S	N307S	Benign	0	1	22	106
MUT:SEMA6D:Gln992Glu	PROT:Q8NFY4	SEMA6D	Q	992	E	Q992E	Likely benign	0	1	22	8
MUT:SEMA6D:His698Arg	PROT:Q8NFY4	SEMA6D	H	698	R	H698R	Likely benign	0	1	22	1
MUT:SEMA6D:Pro1016Ser	PROT:Q8NFY4	SEMA6D	P	1016	S	P1016S	Likely benign	0	1	22	1
MUT:SEMA6D:Ser478Asn	PROT:Q8NFY4	SEMA6D	S	478	N	S478N	Benign	0	1	22	6
MUT:SENP7:Arg1030Trp	PROT:Q9BQF6	SENP7	R	1030	W	R1030W	Likely pathogenic	1	1	15	16
MUT:SEPHS1:Arg371Gln	PROT:P49903	SEPHS1	R	371	Q	R371Q	Pathogenic/Likely pathogenic	1	2	13	20
MUT:SEPHS1:Arg371Gly	PROT:P49903	SEPHS1	R	371	G	R371G	Likely pathogenic	1	1	13	20
MUT:SEPHS1:Arg371Trp	PROT:P49903	SEPHS1	R	371	W	R371W	Pathogenic	1	2	13	20
MUT:SEPTIN10:Gly45Ser	PROT:Q9P0V9	SEPTIN10	G	45	S	G45S	Likely benign	0	1	7	17
MUT:SEPTIN9:Ala244Thr	PROT:Q9UHD8	SEPTIN9	A	244	T	A244T	Likely benign	0	1	45	2
MUT:SEPTIN9:Arg106Trp	PROT:Q9UHD8	SEPTIN9	R	106	W	R106W	Pathogenic	1	1	45	5
MUT:SEPTIN9:Met576Val	PROT:Q9UHD8	SEPTIN9	M	576	V	M576V	Benign	0	1	45	27
MUT:SEPTIN9:Pro145Leu	PROT:Q9UHD8	SEPTIN9	P	145	L	P145L	Benign	0	1	45	3
MUT:SEPTIN9:Ser111Phe	PROT:Q9UHD8	SEPTIN9	S	111	F	S111F	Pathogenic	1	1	45	0
MUT:SEPTIN9:Thr108Ala	PROT:Q9UHD8	SEPTIN9	T	108	A	T108A	Benign	0	1	45	3
MUT:SEPTIN9:Val137Ala	PROT:Q9UHD8	SEPTIN9	V	137	A	V137A	Likely benign	0	1	45	4
MUT:SEPTIN9:Val93Leu	PROT:Q9UHD8	SEPTIN9	V	93	L	V93L	Benign	0	1	45	3
MUT:SERAC1:Arg183Gln	PROT:Q96JX3	SERAC1	R	183	Q	R183Q	Likely pathogenic	1	1	2	79
MUT:SERAC1:Arg306Gln	PROT:Q96JX3	SERAC1	R	306	Q	R306Q	Benign/Likely benign	0	1	2	202
MUT:SERAC1:Arg645Cys	PROT:Q96JX3	SERAC1	R	645	C	R645C	Benign/Likely benign	0	2	2	97
MUT:SERAC1:Gly404Glu	PROT:Q96JX3	SERAC1	G	404	E	G404E	Pathogenic	1	1	2	144
MUT:SERAC1:His26Arg	PROT:Q96JX3	SERAC1	H	26	R	H26R	Likely benign	0	1	2	78
MUT:SERAC1:His26Tyr	PROT:Q96JX3	SERAC1	H	26	Y	H26Y	Likely benign	0	1	2	78
MUT:SERAC1:Ile126Val	PROT:Q96JX3	SERAC1	I	126	V	I126V	Likely benign	0	1	2	22
MUT:SERAC1:Ile30Thr	PROT:Q96JX3	SERAC1	I	30	T	I30T	Benign/Likely benign	0	1	2	74
MUT:SERAC1:Met466Leu	PROT:Q96JX3	SERAC1	M	466	L	M466L	Benign/Likely benign	0	1	2	82
MUT:SERAC1:Phe47Ile	PROT:Q96JX3	SERAC1	F	47	I	F47I	Benign	0	1	2	57
MUT:SERAC1:Pro21Leu	PROT:Q96JX3	SERAC1	P	21	L	P21L	Benign/Likely benign	0	1	2	83
MUT:SERAC1:Pro533Leu	PROT:Q96JX3	SERAC1	P	533	L	P533L	Likely pathogenic	1	1	2	15
MUT:SERAC1:Ser122Gly	PROT:Q96JX3	SERAC1	S	122	G	S122G	Benign	0	1	2	18
MUT:SERAC1:Ser498Thr	PROT:Q96JX3	SERAC1	S	498	T	S498T	Pathogenic/Likely pathogenic	1	2	2	50
MUT:SERAC1:Thr147Met	PROT:Q96JX3	SERAC1	T	147	M	T147M	Benign/Likely benign	0	1	2	43
MUT:SERAC1:Trp410Arg	PROT:Q96JX3	SERAC1	W	410	R	W410R	Likely pathogenic	1	1	2	138
MUT:SERAC1:Val556Asp	PROT:Q96JX3	SERAC1	V	556	D	V556D	Likely pathogenic	1	1	2	8
MUT:SERAC1:Val8Ile	PROT:Q96JX3	SERAC1	V	8	I	V8I	Benign	0	1	2	96
MUT:SERINC3:Asn298Ser	PROT:Q13530	SERINC3	N	298	S	N298S	Likely benign	0	1	7	69
MUT:SERPINA3:Ala9Thr	PROT:P01011	SERPINA3	A	9	T	A9T	Benign	0	2	7	226
MUT:SERPINA3:Leu78Pro	PROT:P01011	SERPINA3	L	78	P	L78P	Pathogenic	1	1	7	157
MUT:SERPINA3:Lys237Arg	PROT:P01011	SERPINA3	K	237	R	K237R	Likely benign	0	2	7	0
MUT:SERPINA3:Pro252Ala	PROT:P01011	SERPINA3	P	252	A	P252A	Likely benign	0	3	7	15
MUT:SERPINA7:Asp191Asn	PROT:P05543	SERPINA7	D	191	N	D191N	Pathogenic	1	1	2	27
MUT:SERPINA7:Ile116Asn	PROT:P05543	SERPINA7	I	116	N	I116N	Pathogenic	1	1	2	48
MUT:SERPINA7:Tyr329Phe	PROT:P05543	SERPINA7	Y	329	F	Y329F	Pathogenic	1	1	2	61
MUT:SERPINA7:Val8Phe	PROT:P05543	SERPINA7	V	8	F	V8F	Benign	0	2	2	156
MUT:SERPINB8:Ala208Val	PROT:P50452	SERPINB8	A	208	V	A208V	Likely benign	0	1	13	17
MUT:SERPINB8:Arg68Gln	PROT:P50452	SERPINB8	R	68	Q	R68Q	Benign	0	1	13	62
MUT:SERPINB8:His359Arg	PROT:P50452	SERPINB8	H	359	R	H359R	Benign	0	1	13	21
MUT:SERPINB8:Leu85Trp	PROT:P50452	SERPINB8	L	85	W	L85W	Benign	0	1	13	45
MUT:SERPINB8:Met1Thr	PROT:P50452	SERPINB8	M	1	T	M1T	Pathogenic	1	1	13	129
MUT:SERPINB8:Pro102Ser	PROT:P50452	SERPINB8	P	102	S	P102S	Likely benign	0	4	13	28
MUT:SERPINB8:Thr304Ala	PROT:P50452	SERPINB8	T	304	A	T304A	Benign	0	1	13	2
MUT:SERPINE1:Ala15Thr	PROT:P05121	SERPINE1	A	15	T	A15T	Benign/Likely benign	0	3	1	87
MUT:SERPINE1:Asn232Ser	PROT:P05121	SERPINE1	N	232	S	N232S	Likely benign	0	1	1	130
MUT:SERPINE1:Val17Ile	PROT:P05121	SERPINE1	V	17	I	V17I	Benign	0	1	1	85
MUT:SERPINF1:Ala56Gly	PROT:P36955	SERPINF1	A	56	G	A56G	Benign/Likely benign	0	1	3	32
MUT:SERPINF1:Leu406Phe	PROT:P36955	SERPINF1	L	406	F	L406F	Likely pathogenic	1	1	3	179
MUT:SERPINF1:Pro132Arg	PROT:P36955	SERPINF1	P	132	R	P132R	Benign	0	2	3	18
MUT:SERPINF1:Thr72Met	PROT:P36955	SERPINF1	T	72	M	T72M	Benign	0	2	3	42
MUT:SERPINF1:Thr75Ala	PROT:P36955	SERPINF1	T	75	A	T75A	Likely benign	0	1	3	39
MUT:SERPINF1:Val168Phe	PROT:P36955	SERPINF1	V	168	F	V168F	Benign	0	1	3	54
MUT:SERPINF1:Val51Met	PROT:P36955	SERPINF1	V	51	M	V51M	Benign	0	2	3	27
MUT:SERPINI1:Ala135Val	PROT:Q99574	SERPINI1	A	135	V	A135V	Benign/Likely benign	0	1	1	86
MUT:SERPINI1:Ala273Thr	PROT:Q99574	SERPINI1	A	273	T	A273T	Likely benign	0	1	1	224
MUT:SERPINI1:Ala280Thr	PROT:Q99574	SERPINI1	A	280	T	A280T	Benign	0	2	1	231
MUT:SERPINI1:Arg36Ser	PROT:Q99574	SERPINI1	R	36	S	R36S	Benign/Likely benign	0	2	1	13
MUT:SERPINI1:Arg73Cys	PROT:Q99574	SERPINI1	R	73	C	R73C	Likely benign	0	1	1	24
MUT:SERPINI1:Arg73His	PROT:Q99574	SERPINI1	R	73	H	R73H	Benign	0	2	1	24
MUT:SERPINI1:Asp173Gly	PROT:Q99574	SERPINI1	D	173	G	D173G	Benign/Likely benign	0	1	1	124
MUT:SERPINI1:Glu330Asp	PROT:Q99574	SERPINI1	E	330	D	E330D	Likely benign	0	1	1	281
MUT:SERPINI1:Gly392Arg	PROT:Q99574	SERPINI1	G	392	R	G392R	Pathogenic	1	1	1	343
MUT:SERPINI1:Gly392Glu	PROT:Q99574	SERPINI1	G	392	E	G392E	Pathogenic/Likely pathogenic	1	2	1	343
MUT:SERPINI1:His338Arg	PROT:Q99574	SERPINI1	H	338	R	H338R	Pathogenic	1	1	1	289
MUT:SERPINI1:Ile26Thr	PROT:Q99574	SERPINI1	I	26	T	I26T	Benign	0	2	1	23
MUT:SERPINI1:Ile53Val	PROT:Q99574	SERPINI1	I	53	V	I53V	Likely benign	0	1	1	4
MUT:SERPINI1:Lys70Glu	PROT:Q99574	SERPINI1	K	70	E	K70E	Benign/Likely benign	0	2	1	21
MUT:SERPINI1:Met395Val	PROT:Q99574	SERPINI1	M	395	V	M395V	Benign/Likely benign	0	1	1	346
MUT:SERPINI1:Phe7Leu	PROT:Q99574	SERPINI1	F	7	L	F7L	Benign	0	1	1	42
MUT:SERPINI1:Ser14Gly	PROT:Q99574	SERPINI1	S	14	G	S14G	Benign	0	3	1	35
MUT:SERPINI1:Ser49Pro	PROT:Q99574	SERPINI1	S	49	P	S49P	Pathogenic	1	1	1	0
MUT:SERPINI1:Ser52Arg	PROT:Q99574	SERPINI1	S	52	R	S52R	Pathogenic	1	1	1	3
MUT:SERPINI1:Val114Met	PROT:Q99574	SERPINI1	V	114	M	V114M	Likely benign	0	2	1	65
MUT:SERPINI1:Val97Ile	PROT:Q99574	SERPINI1	V	97	I	V97I	Benign/Likely benign	0	2	1	48
MUT:SET:Ala20Val	PROT:Q01105	SET	A	20	V	A20V	Likely benign	0	1	21	8
MUT:SET:Asp235Glu	PROT:Q01105	SET	D	235	E	D235E	Likely benign	0	1	21	46
MUT:SET:Asp236Gly	PROT:Q01105	SET	D	236	G	D236G	Likely pathogenic	1	1	21	47
MUT:SET:Glu234Asp	PROT:Q01105	SET	E	234	D	E234D	Likely benign	0	1	21	45
MUT:SET:His105Arg	PROT:Q01105	SET	H	105	R	H105R	Likely pathogenic	1	1	21	14
MUT:SET:His105Tyr	PROT:Q01105	SET	H	105	Y	H105Y	Likely pathogenic	1	1	21	14
MUT:SET:Met1Ile	PROT:Q01105	SET	M	1	I	M1I	Likely pathogenic	1	1	21	8
MUT:SET:Met1Val	PROT:Q01105	SET	M	1	V	M1V	Pathogenic	1	1	21	8
MUT:SET:Thr173Met	PROT:Q01105	SET	T	173	M	T173M	Likely benign	0	1	21	1
MUT:SET:Trp82Gly	PROT:Q01105	SET	W	82	G	W82G	Pathogenic/Likely pathogenic	1	1	21	1
MUT:SETD2:Ala1382Ser	PROT:Q9BYW2	SETD2	A	1382	S	A1382S	Likely benign	0	1	103	16
MUT:SETD2:Ala197Val	PROT:Q9BYW2	SETD2	A	197	V	A197V	Benign/Likely benign	0	1	103	66
MUT:SETD2:Ala2242Thr	PROT:Q9BYW2	SETD2	A	2242	T	A2242T	Benign	0	1	103	138
MUT:SETD2:Ala2350Glu	PROT:Q9BYW2	SETD2	A	2350	E	A2350E	Benign	0	1	103	246
MUT:SETD2:Ala2350Thr	PROT:Q9BYW2	SETD2	A	2350	T	A2350T	Benign/Likely benign	0	1	103	246
MUT:SETD2:Ala848Val	PROT:Q9BYW2	SETD2	A	848	V	A848V	Benign/Likely benign	0	2	103	25
MUT:SETD2:Arg1335His	PROT:Q9BYW2	SETD2	R	1335	H	R1335H	Likely benign	0	1	103	31
MUT:SETD2:Arg1708Pro	PROT:Q9BYW2	SETD2	R	1708	P	R1708P	Likely pathogenic	1	1	103	12
MUT:SETD2:Arg1710Cys	PROT:Q9BYW2	SETD2	R	1710	C	R1710C	Likely benign	0	1	103	14
MUT:SETD2:Arg1740Gln	PROT:Q9BYW2	SETD2	R	1740	Q	R1740Q	Pathogenic	1	2	103	10
MUT:SETD2:Arg1740Trp	PROT:Q9BYW2	SETD2	R	1740	W	R1740W	Pathogenic/Likely pathogenic	1	5	103	10
MUT:SETD2:Arg1790Pro	PROT:Q9BYW2	SETD2	R	1790	P	R1790P	Likely benign	0	1	103	12
MUT:SETD2:Arg1879Cys	PROT:Q9BYW2	SETD2	R	1879	C	R1879C	Pathogenic	1	1	103	7
MUT:SETD2:Arg2132Trp	PROT:Q9BYW2	SETD2	R	2132	W	R2132W	Likely benign	0	1	103	28
MUT:SETD2:Arg329Trp	PROT:Q9BYW2	SETD2	R	329	W	R329W	Benign/Likely benign	0	2	103	2
MUT:SETD2:Arg400Gln	PROT:Q9BYW2	SETD2	R	400	Q	R400Q	Likely benign	0	1	103	18
MUT:SETD2:Arg402Gln	PROT:Q9BYW2	SETD2	R	402	Q	R402Q	Benign/Likely benign	0	1	103	16
MUT:SETD2:Arg432His	PROT:Q9BYW2	SETD2	R	432	H	R432H	Likely benign	0	1	103	10
MUT:SETD2:Arg433Cys	PROT:Q9BYW2	SETD2	R	433	C	R433C	Likely benign	0	1	103	11
MUT:SETD2:Arg471Lys	PROT:Q9BYW2	SETD2	R	471	K	R471K	Benign/Likely benign	0	2	103	1
MUT:SETD2:Arg472His	PROT:Q9BYW2	SETD2	R	472	H	R472H	Benign/Likely benign	0	1	103	2
MUT:SETD2:Arg541Gln	PROT:Q9BYW2	SETD2	R	541	Q	R541Q	Benign	0	1	103	2
MUT:SETD2:Arg949Met	PROT:Q9BYW2	SETD2	R	949	M	R949M	Likely benign	0	1	103	8
MUT:SETD2:Asn1214Asp	PROT:Q9BYW2	SETD2	N	1214	D	N1214D	Benign	0	1	103	1
MUT:SETD2:Asn1396Ser	PROT:Q9BYW2	SETD2	N	1396	S	N1396S	Benign/Likely benign	0	1	103	3
MUT:SETD2:Asn1488Lys	PROT:Q9BYW2	SETD2	N	1488	K	N1488K	Likely benign	0	1	103	71
MUT:SETD2:Asn2058Ser	PROT:Q9BYW2	SETD2	N	2058	S	N2058S	Benign/Likely benign	0	3	103	2
MUT:SETD2:Asn2114Lys	PROT:Q9BYW2	SETD2	N	2114	K	N2114K	Benign	0	1	103	10
MUT:SETD2:Asn579Ile	PROT:Q9BYW2	SETD2	N	579	I	N579I	Likely benign	0	1	103	7
MUT:SETD2:Asn801Ser	PROT:Q9BYW2	SETD2	N	801	S	N801S	Benign	0	1	103	1
MUT:SETD2:Asp1307Tyr	PROT:Q9BYW2	SETD2	D	1307	Y	D1307Y	Likely benign	0	1	103	22
MUT:SETD2:Asp1354Asn	PROT:Q9BYW2	SETD2	D	1354	N	D1354N	Benign/Likely benign	0	2	103	12
MUT:SETD2:Asp2000Gly	PROT:Q9BYW2	SETD2	D	2000	G	D2000G	Likely benign	0	1	103	5
MUT:SETD2:Asp2004Gly	PROT:Q9BYW2	SETD2	D	2004	G	D2004G	Likely benign	0	1	103	6
MUT:SETD2:Asp2007Asn	PROT:Q9BYW2	SETD2	D	2007	N	D2007N	Likely benign	0	1	103	3
MUT:SETD2:Asp289Glu	PROT:Q9BYW2	SETD2	D	289	E	D289E	Likely benign	0	1	103	12
MUT:SETD2:Asp868Gly	PROT:Q9BYW2	SETD2	D	868	G	D868G	Benign/Likely benign	0	2	103	31
MUT:SETD2:Cys495Gly	PROT:Q9BYW2	SETD2	C	495	G	C495G	Likely benign	0	1	103	25
MUT:SETD2:Cys575Phe	PROT:Q9BYW2	SETD2	C	575	F	C575F	Likely benign	0	1	103	3
MUT:SETD2:Gln1344Arg	PROT:Q9BYW2	SETD2	Q	1344	R	Q1344R	Likely benign	0	1	103	22
MUT:SETD2:Gln1926Arg	PROT:Q9BYW2	SETD2	Q	1926	R	Q1926R	Likely benign	0	1	103	1
MUT:SETD2:Gln1996Arg	PROT:Q9BYW2	SETD2	Q	1996	R	Q1996R	Likely benign	0	1	103	1
MUT:SETD2:Gln2290Leu	PROT:Q9BYW2	SETD2	Q	2290	L	Q2290L	Benign	0	1	103	186
MUT:SETD2:Gln2335Arg	PROT:Q9BYW2	SETD2	Q	2335	R	Q2335R	Likely benign	0	1	103	231
MUT:SETD2:Gln2365Glu	PROT:Q9BYW2	SETD2	Q	2365	E	Q2365E	Likely benign	0	1	103	261
MUT:SETD2:Gln313Pro	PROT:Q9BYW2	SETD2	Q	313	P	Q313P	Likely benign	0	1	103	10
MUT:SETD2:Glu1201Gln	PROT:Q9BYW2	SETD2	E	1201	Q	E1201Q	Likely benign	0	1	103	5
MUT:SETD2:Glu2542Ala	PROT:Q9BYW2	SETD2	E	2542	A	E2542A	Likely benign	0	1	103	438
MUT:SETD2:Glu639Lys	PROT:Q9BYW2	SETD2	E	639	K	E639K	Benign	0	1	103	2
MUT:SETD2:Glu902Gln	PROT:Q9BYW2	SETD2	E	902	Q	E902Q	Benign	0	1	103	3
MUT:SETD2:Glu972Gln	PROT:Q9BYW2	SETD2	E	972	Q	E972Q	Likely benign	0	1	103	8
MUT:SETD2:Glu986Lys	PROT:Q9BYW2	SETD2	E	986	K	E986K	Benign/Likely benign	0	1	103	6
MUT:SETD2:Gly1279Glu	PROT:Q9BYW2	SETD2	G	1279	E	G1279E	Likely benign	0	1	103	6
MUT:SETD2:Gly1717Glu	PROT:Q9BYW2	SETD2	G	1717	E	G1717E	Likely benign	0	1	103	13
MUT:SETD2:Gly597Asp	PROT:Q9BYW2	SETD2	G	597	D	G597D	Benign	0	1	103	5
MUT:SETD2:Gly901Glu	PROT:Q9BYW2	SETD2	G	901	E	G901E	Benign	0	1	103	2
MUT:SETD2:Gly933Val	PROT:Q9BYW2	SETD2	G	933	V	G933V	Benign/Likely benign	0	2	103	6
MUT:SETD2:Gly985Arg	PROT:Q9BYW2	SETD2	G	985	R	G985R	Benign	0	1	103	5
MUT:SETD2:His1250Asp	PROT:Q9BYW2	SETD2	H	1250	D	H1250D	Benign	0	1	103	13
MUT:SETD2:His1284Asn	PROT:Q9BYW2	SETD2	H	1284	N	H1284N	Benign	0	1	103	1
MUT:SETD2:His2205Arg	PROT:Q9BYW2	SETD2	H	2205	R	H2205R	Likely benign	0	1	103	101
MUT:SETD2:His2249Arg	PROT:Q9BYW2	SETD2	H	2249	R	H2249R	Likely benign	0	1	103	145
MUT:SETD2:Ile1120Val	PROT:Q9BYW2	SETD2	I	1120	V	I1120V	Benign	0	1	103	4
MUT:SETD2:Ile1398Thr	PROT:Q9BYW2	SETD2	I	1398	T	I1398T	Benign/Likely benign	0	1	103	1
MUT:SETD2:Ile2005Val	PROT:Q9BYW2	SETD2	I	2005	V	I2005V	Benign/Likely benign	0	1	103	5
MUT:SETD2:Ile2295Met	PROT:Q9BYW2	SETD2	I	2295	M	I2295M	Likely benign	0	1	103	191
MUT:SETD2:Ile2295Val	PROT:Q9BYW2	SETD2	I	2295	V	I2295V	Benign	0	1	103	191
MUT:SETD2:Ile2355Val	PROT:Q9BYW2	SETD2	I	2355	V	I2355V	Benign	0	1	103	251
MUT:SETD2:Ile259Val	PROT:Q9BYW2	SETD2	I	259	V	I259V	Benign	0	1	103	42
MUT:SETD2:Ile527Val	PROT:Q9BYW2	SETD2	I	527	V	I527V	Likely benign	0	2	103	5
MUT:SETD2:Ile563Val	PROT:Q9BYW2	SETD2	I	563	V	I563V	Benign/Likely benign	0	1	103	8
MUT:SETD2:Ile635Val	PROT:Q9BYW2	SETD2	I	635	V	I635V	Likely benign	0	1	103	2
MUT:SETD2:Ile812Thr	PROT:Q9BYW2	SETD2	I	812	T	I812T	Likely benign	0	1	103	11
MUT:SETD2:Ile890Leu	PROT:Q9BYW2	SETD2	I	890	L	I890L	Benign	0	1	103	9
MUT:SETD2:Leu1381Ser	PROT:Q9BYW2	SETD2	L	1381	S	L1381S	Benign	0	1	103	15
MUT:SETD2:Leu1815Trp	PROT:Q9BYW2	SETD2	L	1815	W	L1815W	Pathogenic	1	1	103	3
MUT:SETD2:Leu1837Ser	PROT:Q9BYW2	SETD2	L	1837	S	L1837S	Likely benign	0	1	103	7
MUT:SETD2:Leu514Ile	PROT:Q9BYW2	SETD2	L	514	I	L514I	Likely benign	0	1	103	18
MUT:SETD2:Leu537Arg	PROT:Q9BYW2	SETD2	L	537	R	L537R	Benign/Likely benign	0	1	103	5
MUT:SETD2:Leu578Phe	PROT:Q9BYW2	SETD2	L	578	F	L578F	Benign/Likely benign	0	1	103	6
MUT:SETD2:Lys11Asn	PROT:Q9BYW2	SETD2	K	11	N	K11N	Likely benign	0	1	103	115
MUT:SETD2:Lys1215Glu	PROT:Q9BYW2	SETD2	K	1215	E	K1215E	Likely benign	0	1	103	0
MUT:SETD2:Lys146Gln	PROT:Q9BYW2	SETD2	K	146	Q	K146Q	Likely benign	0	1	103	15
MUT:SETD2:Lys2105Glu	PROT:Q9BYW2	SETD2	K	2105	E	K2105E	Likely benign	0	1	103	1
MUT:SETD2:Lys2550Thr	PROT:Q9BYW2	SETD2	K	2550	T	K2550T	Likely benign	0	1	103	446
MUT:SETD2:Lys57Arg	PROT:Q9BYW2	SETD2	K	57	R	K57R	Likely benign	0	1	103	69
MUT:SETD2:Lys759Glu	PROT:Q9BYW2	SETD2	K	759	E	K759E	Benign/Likely benign	0	1	103	5
MUT:SETD2:Lys772Glu	PROT:Q9BYW2	SETD2	K	772	E	K772E	Benign/Likely benign	0	1	103	4
MUT:SETD2:Lys776Thr	PROT:Q9BYW2	SETD2	K	776	T	K776T	Benign	0	1	103	0
MUT:SETD2:Lys926Glu	PROT:Q9BYW2	SETD2	K	926	E	K926E	Benign	0	1	103	4
MUT:SETD2:Met1080Ile	PROT:Q9BYW2	SETD2	M	1080	I	M1080I	Benign	0	6	103	4
MUT:SETD2:Met1889Thr	PROT:Q9BYW2	SETD2	M	1889	T	M1889T	Benign/Likely benign	0	2	103	1
MUT:SETD2:Met1Lys	PROT:Q9BYW2	SETD2	M	1	K	M1K	Likely benign	0	1	103	125
MUT:SETD2:Met602Thr	PROT:Q9BYW2	SETD2	M	602	T	M602T	Likely benign	0	1	103	10
MUT:SETD2:Met761Ile	PROT:Q9BYW2	SETD2	M	761	I	M761I	Likely benign	0	1	103	7
MUT:SETD2:Met817Thr	PROT:Q9BYW2	SETD2	M	817	T	M817T	Benign	0	2	103	6
MUT:SETD2:Phe1262Ser	PROT:Q9BYW2	SETD2	F	1262	S	F1262S	Likely benign	0	1	103	1
MUT:SETD2:Phe1454Leu	PROT:Q9BYW2	SETD2	F	1454	L	F1454L	Likely benign	0	1	103	37
MUT:SETD2:Phe341Ile	PROT:Q9BYW2	SETD2	F	341	I	F341I	Benign	0	1	103	3
MUT:SETD2:Phe847Ser	PROT:Q9BYW2	SETD2	F	847	S	F847S	Benign/Likely benign	0	1	103	24
MUT:SETD2:Phe88Tyr	PROT:Q9BYW2	SETD2	F	88	Y	F88Y	Likely benign	0	1	103	38
MUT:SETD2:Pro104Thr	PROT:Q9BYW2	SETD2	P	104	T	P104T	Likely benign	0	1	103	22
MUT:SETD2:Pro1141Leu	PROT:Q9BYW2	SETD2	P	1141	L	P1141L	Benign/Likely benign	0	2	103	3
MUT:SETD2:Pro1226Leu	PROT:Q9BYW2	SETD2	P	1226	L	P1226L	Likely benign	0	1	103	2
MUT:SETD2:Pro133Thr	PROT:Q9BYW2	SETD2	P	133	T	P133T	Likely benign	0	1	103	2
MUT:SETD2:Pro167Leu	PROT:Q9BYW2	SETD2	P	167	L	P167L	Benign/Likely benign	0	2	103	36
MUT:SETD2:Pro186Arg	PROT:Q9BYW2	SETD2	P	186	R	P186R	Likely benign	0	1	103	55
MUT:SETD2:Pro186Leu	PROT:Q9BYW2	SETD2	P	186	L	P186L	Benign/Likely benign	0	2	103	55
MUT:SETD2:Pro190Leu	PROT:Q9BYW2	SETD2	P	190	L	P190L	Likely benign	0	1	103	59
MUT:SETD2:Pro193Leu	PROT:Q9BYW2	SETD2	P	193	L	P193L	Benign	0	2	103	62
MUT:SETD2:Pro1962Leu	PROT:Q9BYW2	SETD2	P	1962	L	P1962L	Benign	0	1	103	10
MUT:SETD2:Pro2202Ala	PROT:Q9BYW2	SETD2	P	2202	A	P2202A	Benign	0	1	103	98
MUT:SETD2:Pro2222Ser	PROT:Q9BYW2	SETD2	P	2222	S	P2222S	Benign	0	1	103	118
MUT:SETD2:Pro226Ala	PROT:Q9BYW2	SETD2	P	226	A	P226A	Likely benign	0	1	103	75
MUT:SETD2:Pro357Ser	PROT:Q9BYW2	SETD2	P	357	S	P357S	Likely benign	0	1	103	13
MUT:SETD2:Pro617Leu	PROT:Q9BYW2	SETD2	P	617	L	P617L	Benign/Likely benign	0	1	103	1
MUT:SETD2:Pro617Thr	PROT:Q9BYW2	SETD2	P	617	T	P617T	Benign	0	1	103	1
MUT:SETD2:Pro677Ser	PROT:Q9BYW2	SETD2	P	677	S	P677S	Benign	0	1	103	1
MUT:SETD2:Pro971Arg	PROT:Q9BYW2	SETD2	P	971	R	P971R	Benign	0	1	103	9
MUT:SETD2:Ser1051Leu	PROT:Q9BYW2	SETD2	S	1051	L	S1051L	Benign	0	1	103	17
MUT:SETD2:Ser1091Arg	PROT:Q9BYW2	SETD2	S	1091	R	S1091R	Benign	0	1	103	7
MUT:SETD2:Ser1149Asn	PROT:Q9BYW2	SETD2	S	1149	N	S1149N	Likely benign	0	1	103	5
MUT:SETD2:Ser1572Leu	PROT:Q9BYW2	SETD2	S	1572	L	S1572L	Likely benign	0	1	103	48
MUT:SETD2:Ser2079Asn	PROT:Q9BYW2	SETD2	S	2079	N	S2079N	Benign	0	1	103	0
MUT:SETD2:Ser2104Ala	PROT:Q9BYW2	SETD2	S	2104	A	S2104A	Likely benign	0	1	103	0
MUT:SETD2:Ser2154Cys	PROT:Q9BYW2	SETD2	S	2154	C	S2154C	Likely benign	0	1	103	50
MUT:SETD2:Ser2237Ile	PROT:Q9BYW2	SETD2	S	2237	I	S2237I	Likely benign	0	1	103	133
MUT:SETD2:Ser654Cys	PROT:Q9BYW2	SETD2	S	654	C	S654C	Likely benign	0	1	103	0
MUT:SETD2:Ser771Cys	PROT:Q9BYW2	SETD2	S	771	C	S771C	Benign	0	1	103	5
MUT:SETD2:Thr1033Ala	PROT:Q9BYW2	SETD2	T	1033	A	T1033A	Benign/Likely benign	0	1	103	35
MUT:SETD2:Thr1077Ala	PROT:Q9BYW2	SETD2	T	1077	A	T1077A	Benign/Likely benign	0	2	103	7
MUT:SETD2:Thr159Ala	PROT:Q9BYW2	SETD2	T	159	A	T159A	Benign/Likely benign	0	1	103	28
MUT:SETD2:Thr1866Ala	PROT:Q9BYW2	SETD2	T	1866	A	T1866A	Likely benign	0	1	103	4
MUT:SETD2:Thr1872Ser	PROT:Q9BYW2	SETD2	T	1872	S	T1872S	Benign	0	1	103	0
MUT:SETD2:Thr2037Ala	PROT:Q9BYW2	SETD2	T	2037	A	T2037A	Likely benign	0	2	103	14
MUT:SETD2:Thr2354Ala	PROT:Q9BYW2	SETD2	T	2354	A	T2354A	Benign/Likely benign	0	2	103	250
MUT:SETD2:Thr2561Ile	PROT:Q9BYW2	SETD2	T	2561	I	T2561I	Likely benign	0	1	103	457
MUT:SETD2:Thr330Asn	PROT:Q9BYW2	SETD2	T	330	N	T330N	Likely benign	0	1	103	3
MUT:SETD2:Thr444Ala	PROT:Q9BYW2	SETD2	T	444	A	T444A	Likely benign	0	1	103	14
MUT:SETD2:Thr444Met	PROT:Q9BYW2	SETD2	T	444	M	T444M	Likely benign	0	1	103	14
MUT:SETD2:Thr468Ile	PROT:Q9BYW2	SETD2	T	468	I	T468I	Benign	0	1	103	2
MUT:SETD2:Thr592Lys	PROT:Q9BYW2	SETD2	T	592	K	T592K	Benign/Likely benign	0	2	103	0
MUT:SETD2:Thr691Ile	PROT:Q9BYW2	SETD2	T	691	I	T691I	Benign/Likely benign	0	1	103	7
MUT:SETD2:Thr928Arg	PROT:Q9BYW2	SETD2	T	928	R	T928R	Benign/Likely benign	0	1	103	6
MUT:SETD2:Tyr1205Cys	PROT:Q9BYW2	SETD2	Y	1205	C	Y1205C	Benign	0	1	103	1
MUT:SETD2:Tyr1278Cys	PROT:Q9BYW2	SETD2	Y	1278	C	Y1278C	Likely benign	0	1	103	7
MUT:SETD2:Tyr1666Cys	PROT:Q9BYW2	SETD2	Y	1666	C	Y1666C	Pathogenic/Likely pathogenic	1	1	103	30
MUT:SETD2:Tyr2152Cys	PROT:Q9BYW2	SETD2	Y	2152	C	Y2152C	Benign/Likely benign	0	2	103	48
MUT:SETD2:Tyr446Cys	PROT:Q9BYW2	SETD2	Y	446	C	Y446C	Likely benign	0	1	103	12
MUT:SETD2:Val1015Ile	PROT:Q9BYW2	SETD2	V	1015	I	V1015I	Likely benign	0	1	103	35
MUT:SETD2:Val1743Leu	PROT:Q9BYW2	SETD2	V	1743	L	V1743L	Likely pathogenic	1	1	103	13
MUT:SETD2:Val1938Ile	PROT:Q9BYW2	SETD2	V	1938	I	V1938I	Benign	0	2	103	13
MUT:SETD2:Val2197Leu	PROT:Q9BYW2	SETD2	V	2197	L	V2197L	Likely benign	0	1	103	93
MUT:SETD2:Val2229Gly	PROT:Q9BYW2	SETD2	V	2229	G	V2229G	Benign/Likely benign	0	1	103	125
MUT:SETD2:Val267Ile	PROT:Q9BYW2	SETD2	V	267	I	V267I	Benign/Likely benign	0	1	103	34
MUT:SETD2:Val765Gly	PROT:Q9BYW2	SETD2	V	765	G	V765G	Benign	0	1	103	11
MUT:SETD2:Val768Leu	PROT:Q9BYW2	SETD2	V	768	L	V768L	Benign/Likely benign	0	2	103	8
MUT:SETD2:Val932Ile	PROT:Q9BYW2	SETD2	V	932	I	V932I	Benign	0	1	103	7
MUT:SEZ6L2:Thr108Ile	PROT:Q6UXD5	SEZ6L2	T	108	I	T108I	Likely benign	0	1	6	765
MUT:SFRP4:Ala54Asp	PROT:Q6FHJ7	SFRP4	A	54	D	A54D	Likely pathogenic	1	1	4	102
MUT:SFRP4:Arg295Gln	PROT:Q6FHJ7	SFRP4	R	295	Q	R295Q	Likely benign	0	1	4	32
MUT:SFRP4:Arg340Lys	PROT:Q6FHJ7	SFRP4	R	340	K	R340K	Benign	0	2	4	13
MUT:SFRP4:Cys125Ser	PROT:Q6FHJ7	SFRP4	C	125	S	C125S	Likely pathogenic	1	1	4	31
MUT:SFRP4:Pro320Thr	PROT:Q6FHJ7	SFRP4	P	320	T	P320T	Benign	0	2	4	7
MUT:SFTPA1:Arg219Trp	PROT:Q8IWL2	SFTPA1	R	219	W	R219W	Benign	0	2	1	39
MUT:SFTPA1:Leu50Val	PROT:Q8IWL2	SFTPA1	L	50	V	L50V	Benign/Likely benign	0	1	1	130
MUT:SFTPA1:Pro91Ala	PROT:Q8IWL2	SFTPA1	P	91	A	P91A	Benign	0	1	1	89
MUT:SFTPA1:Trp211Arg	PROT:Q8IWL2	SFTPA1	W	211	R	W211R	Pathogenic	1	1	1	31
MUT:SFTPA1:Tyr208His	PROT:Q8IWL2	SFTPA1	Y	208	H	Y208H	Pathogenic	1	1	1	28
MUT:SFTPA1:Val178Met	PROT:Q8IWL2	SFTPA1	V	178	M	V178M	Pathogenic	1	1	1	2
MUT:SFTPA1:Val19Ala	PROT:Q8IWL2	SFTPA1	V	19	A	V19A	Benign/Likely benign	0	1	1	161
MUT:SFTPA1:Val225Met	PROT:Q8IWL2	SFTPA1	V	225	M	V225M	Pathogenic	1	1	1	45
MUT:SFXN4:Ala208Thr	PROT:Q6P4A7	SFXN4	A	208	T	A208T	Likely benign	0	1	6	15
MUT:SFXN4:Arg41Gln	PROT:Q6P4A7	SFXN4	R	41	Q	R41Q	Likely benign	0	1	6	39
MUT:SFXN4:Ile196Ser	PROT:Q6P4A7	SFXN4	I	196	S	I196S	Likely benign	0	1	6	27
MUT:SFXN4:Lys106Arg	PROT:Q6P4A7	SFXN4	K	106	R	K106R	Likely benign	0	1	6	0
MUT:SFXN4:Lys197Arg	PROT:Q6P4A7	SFXN4	K	197	R	K197R	Likely benign	0	1	6	26
MUT:SFXN4:Pro52Ala	PROT:Q6P4A7	SFXN4	P	52	A	P52A	Likely benign	0	1	6	50
MUT:SFXN4:Ser80Leu	PROT:Q6P4A7	SFXN4	S	80	L	S80L	Likely benign	0	1	6	26
MUT:SFXN4:Thr9Met	PROT:Q6P4A7	SFXN4	T	9	M	T9M	Likely benign	0	1	6	7
MUT:SGCE:Arg136Gly	PROT:O43556	SGCE	R	136	G	R136G	Likely pathogenic	1	1	8	97
MUT:SGCE:Cys248Ser	PROT:O43556	SGCE	C	248	S	C248S	Likely pathogenic	1	1	8	30
MUT:SGCE:Cys271Tyr	PROT:O43556	SGCE	C	271	Y	C271Y	Pathogenic/Likely pathogenic	1	1	8	7
MUT:SGCE:Gln105Arg	PROT:O43556	SGCE	Q	105	R	Q105R	Pathogenic	1	1	8	66
MUT:SGCE:Gly221Val	PROT:O43556	SGCE	G	221	V	G221V	Pathogenic	1	1	8	57
MUT:SGCE:Gly227Val	PROT:O43556	SGCE	G	227	V	G227V	Likely pathogenic	1	1	8	51
MUT:SGCE:Gly78Ser	PROT:O43556	SGCE	G	78	S	G78S	Likely pathogenic	1	1	8	39
MUT:SGCE:Leu184Pro	PROT:O43556	SGCE	L	184	P	L184P	Pathogenic/Likely pathogenic	1	2	8	94
MUT:SGCE:Leu196Arg	PROT:O43556	SGCE	L	196	R	L196R	Pathogenic	1	1	8	82
MUT:SGCE:Leu57Arg	PROT:O43556	SGCE	L	57	R	L57R	Likely pathogenic	1	1	8	18
MUT:SGCE:Phe164Ser	PROT:O43556	SGCE	F	164	S	F164S	Likely pathogenic	1	1	8	114
MUT:SGCE:Thr257Pro	PROT:O43556	SGCE	T	257	P	T257P	Benign/Likely benign	0	1	8	21
MUT:SGCE:Tyr115Cys	PROT:O43556	SGCE	Y	115	C	Y115C	Pathogenic	1	1	8	76
MUT:SGK1:Asn460Ser	PROT:O00141	SGK1	N	460	S	N460S	Likely pathogenic	1	1	17	60
MUT:SGSM1:Ala828Val	PROT:Q2NKQ1	SGSM1	A	828	V	A828V	Likely benign	0	1	2	140
MUT:SGSM1:Ala969Glu	PROT:Q2NKQ1	SGSM1	A	969	E	A969E	Likely benign	0	1	2	281
MUT:SGSM3:Val289Met	PROT:Q96HU1	SGSM3	V	289	M	V289M	Likely benign	0	1	9	71
MUT:SH2B3:Arg247Lys	PROT:Q9UQQ2	SH2B3	R	247	K	R247K	Likely benign	0	1	10	26
MUT:SH2B3:Arg80Cys	PROT:Q9UQQ2	SH2B3	R	80	C	R80C	Benign	0	1	10	70
MUT:SH2B3:Asn548Ser	PROT:Q9UQQ2	SH2B3	N	548	S	N548S	Likely benign	0	1	10	24
MUT:SH2B3:Gln54His	PROT:Q9UQQ2	SH2B3	Q	54	H	Q54H	Likely benign	0	1	10	44
MUT:SH2B3:Lys180Arg	PROT:Q9UQQ2	SH2B3	K	180	R	K180R	Likely benign	0	1	10	15
MUT:SH2B3:Met1Val	PROT:Q9UQQ2	SH2B3	M	1	V	M1V	Pathogenic	1	1	10	9
MUT:SH2B3:Phe135Leu	PROT:Q9UQQ2	SH2B3	F	135	L	F135L	Likely benign	0	1	10	15
MUT:SH2B3:Phe182Leu	PROT:Q9UQQ2	SH2B3	F	182	L	F182L	Benign	0	1	10	17
MUT:SH2B3:Pro15Ser	PROT:Q9UQQ2	SH2B3	P	15	S	P15S	Likely benign	0	1	10	5
MUT:SH2B3:Pro163Ala	PROT:Q9UQQ2	SH2B3	P	163	A	P163A	Likely benign	0	1	10	2
MUT:SH2B3:Pro230Ser	PROT:Q9UQQ2	SH2B3	P	230	S	P230S	Likely benign	0	1	10	43
MUT:SH2B3:Pro344Leu	PROT:Q9UQQ2	SH2B3	P	344	L	P344L	Benign/Likely benign	0	1	10	1
MUT:SH2B3:Pro482Ser	PROT:Q9UQQ2	SH2B3	P	482	S	P482S	Likely benign	0	1	10	29
MUT:SH2B3:Thr165Ala	PROT:Q9UQQ2	SH2B3	T	165	A	T165A	Likely benign	0	1	10	0
MUT:SH2B3:Thr165Ser	PROT:Q9UQQ2	SH2B3	T	165	S	T165S	Benign	0	1	10	0
MUT:SH2B3:Trp262Arg	PROT:Q9UQQ2	SH2B3	W	262	R	W262R	Benign	0	2	10	11
MUT:SH2B3:Val547Ala	PROT:Q9UQQ2	SH2B3	V	547	A	V547A	Likely benign	0	1	10	25
MUT:SH3BP2:Ala155Val	PROT:P78314	SH3BP2	A	155	V	A155V	Benign/Likely benign	0	1	17	19
MUT:SH3BP2:Arg384Gln	PROT:P78314	SH3BP2	R	384	Q	R384Q	Benign/Likely benign	0	5	17	23
MUT:SH3BP2:Arg415Gln	PROT:P78314	SH3BP2	R	415	Q	R415Q	Pathogenic	1	1	17	1
MUT:SH3BP2:Arg415Pro	PROT:P78314	SH3BP2	R	415	P	R415P	Pathogenic	1	1	17	1
MUT:SH3BP2:Arg477Trp	PROT:P78314	SH3BP2	R	477	W	R477W	Benign/Likely benign	0	1	17	29
MUT:SH3BP2:Arg80Gln	PROT:P78314	SH3BP2	R	80	Q	R80Q	Benign/Likely benign	0	4	17	51
MUT:SH3BP2:Gly375Arg	PROT:P78314	SH3BP2	G	375	R	G375R	Benign/Likely benign	0	1	17	14
MUT:SH3BP2:Gly420Ala	PROT:P78314	SH3BP2	G	420	A	G420A	Likely pathogenic	1	1	17	4
MUT:SH3BP2:Gly420Arg	PROT:P78314	SH3BP2	G	420	R	G420R	Pathogenic	1	2	17	4
MUT:SH3BP2:His100Arg	PROT:P78314	SH3BP2	H	100	R	H100R	Benign/Likely benign	0	2	17	71
MUT:SH3BP2:Leu164Arg	PROT:P78314	SH3BP2	L	164	R	L164R	Likely benign	0	2	17	10
MUT:SH3BP2:Pro215Thr	PROT:P78314	SH3BP2	P	215	T	P215T	Likely benign	0	1	17	3
MUT:SH3BP2:Pro261Arg	PROT:P78314	SH3BP2	P	261	R	P261R	Benign	0	1	17	12
MUT:SH3BP2:Pro261Leu	PROT:P78314	SH3BP2	P	261	L	P261L	Likely benign	0	1	17	12
MUT:SH3BP2:Pro418Arg	PROT:P78314	SH3BP2	P	418	R	P418R	Pathogenic	1	1	17	2
MUT:SH3BP2:Pro418His	PROT:P78314	SH3BP2	P	418	H	P418H	Pathogenic/Likely pathogenic	1	1	17	2
MUT:SH3BP2:Pro418Leu	PROT:P78314	SH3BP2	P	418	L	P418L	Pathogenic/Likely pathogenic	1	1	17	2
MUT:SH3BP2:Pro418Thr	PROT:P78314	SH3BP2	P	418	T	P418T	Pathogenic/Likely pathogenic	1	2	17	2
MUT:SH3BP2:Ser456Pro	PROT:P78314	SH3BP2	S	456	P	S456P	Benign	0	1	17	8
MUT:SH3BP2:Ser475Asn	PROT:P78314	SH3BP2	S	475	N	S475N	Likely benign	0	1	17	27
MUT:SH3BP2:Val27Met	PROT:P78314	SH3BP2	V	27	M	V27M	Likely benign	0	1	17	2
MUT:SH3BP2:Val542Met	PROT:P78314	SH3BP2	V	542	M	V542M	Benign	0	1	17	94
MUT:SH3KBP1:Gly561Ser	PROT:Q96B97	SH3KBP1	G	561	S	G561S	Benign	0	1	28	11
MUT:SH3TC2:Ala1017Thr	PROT:Q8TF17	SH3TC2	A	1017	T	A1017T	Likely benign	0	1	2	6
MUT:SH3TC2:Ala1121Val	PROT:Q8TF17	SH3TC2	A	1121	V	A1121V	Benign/Likely benign	0	6	2	110
MUT:SH3TC2:Ala468Ser	PROT:Q8TF17	SH3TC2	A	468	S	A468S	Benign	0	4	2	364
MUT:SH3TC2:Ala468Thr	PROT:Q8TF17	SH3TC2	A	468	T	A468T	Benign	0	1	2	364
MUT:SH3TC2:Ala80Thr	PROT:Q8TF17	SH3TC2	A	80	T	A80T	Benign/Likely benign	0	4	2	24
MUT:SH3TC2:Arg1099Cys	PROT:Q8TF17	SH3TC2	R	1099	C	R1099C	Likely benign	0	1	2	88
MUT:SH3TC2:Arg1171Cys	PROT:Q8TF17	SH3TC2	R	1171	C	R1171C	Pathogenic/Likely pathogenic	1	4	2	160
MUT:SH3TC2:Arg529Cys	PROT:Q8TF17	SH3TC2	R	529	C	R529C	Likely pathogenic	1	2	2	425
MUT:SH3TC2:Arg529Gln	PROT:Q8TF17	SH3TC2	R	529	Q	R529Q	Pathogenic/Likely pathogenic	1	2	2	425
MUT:SH3TC2:Arg529Trp	PROT:Q8TF17	SH3TC2	R	529	W	R529W	Likely pathogenic	1	1	2	425
MUT:SH3TC2:Arg63Lys	PROT:Q8TF17	SH3TC2	R	63	K	R63K	Benign/Likely benign	0	3	2	41
MUT:SH3TC2:Arg658Cys	PROT:Q8TF17	SH3TC2	R	658	C	R658C	Pathogenic/Likely pathogenic	1	5	2	353
MUT:SH3TC2:Asn881Ile	PROT:Q8TF17	SH3TC2	N	881	I	N881I	Likely pathogenic	1	2	2	130
MUT:SH3TC2:Asn881Ser	PROT:Q8TF17	SH3TC2	N	881	S	N881S	Pathogenic/Likely pathogenic	1	3	2	130
MUT:SH3TC2:Asn897Lys	PROT:Q8TF17	SH3TC2	N	897	K	N897K	Benign/Likely benign	0	4	2	114
MUT:SH3TC2:Asp564Gly	PROT:Q8TF17	SH3TC2	D	564	G	D564G	Pathogenic/Likely pathogenic	1	1	2	447
MUT:SH3TC2:Cys148Gly	PROT:Q8TF17	SH3TC2	C	148	G	C148G	Likely benign	0	1	2	44
MUT:SH3TC2:Cys181Phe	PROT:Q8TF17	SH3TC2	C	181	F	C181F	Likely benign	0	1	2	77
MUT:SH3TC2:Glu657Lys	PROT:Q8TF17	SH3TC2	E	657	K	E657K	Pathogenic/Likely pathogenic	1	3	2	354
MUT:SH3TC2:Gly171Glu	PROT:Q8TF17	SH3TC2	G	171	E	G171E	Benign	0	4	2	67
MUT:SH3TC2:Gly310Glu	PROT:Q8TF17	SH3TC2	G	310	E	G310E	Pathogenic/Likely pathogenic	1	1	2	206
MUT:SH3TC2:Gly843Val	PROT:Q8TF17	SH3TC2	G	843	V	G843V	Pathogenic/Likely pathogenic	1	3	2	168
MUT:SH3TC2:His696Arg	PROT:Q8TF17	SH3TC2	H	696	R	H696R	Benign/Likely benign	0	4	2	315
MUT:SH3TC2:His984Asn	PROT:Q8TF17	SH3TC2	H	984	N	H984N	Likely benign	0	1	2	27
MUT:SH3TC2:Leu139Pro	PROT:Q8TF17	SH3TC2	L	139	P	L139P	Likely pathogenic	1	1	2	35
MUT:SH3TC2:Leu571Pro	PROT:Q8TF17	SH3TC2	L	571	P	L571P	Likely pathogenic	1	1	2	440
MUT:SH3TC2:Leu763Pro	PROT:Q8TF17	SH3TC2	L	763	P	L763P	Likely pathogenic	1	1	2	248
MUT:SH3TC2:Lys516Asn	PROT:Q8TF17	SH3TC2	K	516	N	K516N	Likely benign	0	1	2	412
MUT:SH3TC2:Met1Val	PROT:Q8TF17	SH3TC2	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	2	103
MUT:SH3TC2:Pro22Ser	PROT:Q8TF17	SH3TC2	P	22	S	P22S	Likely benign	0	1	2	82
MUT:SH3TC2:Val1158Ile	PROT:Q8TF17	SH3TC2	V	1158	I	V1158I	Benign	0	4	2	147
MUT:SH3TC2:Val131Ile	PROT:Q8TF17	SH3TC2	V	131	I	V131I	Likely benign	0	1	2	27
MUT:SH3TC2:Val619Met	PROT:Q8TF17	SH3TC2	V	619	M	V619M	Likely benign	0	1	2	392
MUT:SHANK2:Ala1594Thr	PROT:Q9UPX8	SHANK2	A	1594	T	A1594T	Likely benign	0	1	38	260
MUT:SHANK2:Ala205Ser	PROT:Q9UPX8	SHANK2	A	205	S	A205S	Likely benign	0	1	38	23
MUT:SHANK2:Arg111His	PROT:Q9UPX8	SHANK2	R	111	H	R111H	Likely benign	0	1	38	43
MUT:SHANK2:Arg174Cys	PROT:Q9UPX8	SHANK2	R	174	C	R174C	Likely benign	0	1	38	16
MUT:SHANK2:Arg3Cys	PROT:Q9UPX8	SHANK2	R	3	C	R3C	Likely benign	0	1	38	151
MUT:SHANK2:Asn55Ser	PROT:Q9UPX8	SHANK2	N	55	S	N55S	Likely benign	0	1	38	99
MUT:SHANK2:Glu1128Gln	PROT:Q9UPX8	SHANK2	E	1128	Q	E1128Q	Likely benign	0	1	38	3
MUT:SHANK2:Gly275Arg	PROT:Q9UPX8	SHANK2	G	275	R	G275R	Likely benign	0	1	38	32
MUT:SHANK2:Gly46Ser	PROT:Q9UPX8	SHANK2	G	46	S	G46S	Likely benign	0	1	38	108
MUT:SHANK2:Gly504Asp	PROT:Q9UPX8	SHANK2	G	504	D	G504D	Benign	0	1	38	7
MUT:SHANK2:Gly609Ser	PROT:Q9UPX8	SHANK2	G	609	S	G609S	Likely benign	0	1	38	4
MUT:SHANK2:Gly643Arg	PROT:Q9UPX8	SHANK2	G	643	R	G643R	Likely pathogenic	1	1	38	0
MUT:SHANK2:Ile1664Thr	PROT:Q9UPX8	SHANK2	I	1664	T	I1664T	Benign/Likely benign	0	1	38	330
MUT:SHANK2:Ile850Leu	PROT:Q9UPX8	SHANK2	I	850	L	I850L	Likely benign	0	1	38	10
MUT:SHANK2:Leu1415Met	PROT:Q9UPX8	SHANK2	L	1415	M	L1415M	Likely benign	0	1	38	81
MUT:SHANK2:Lys715Gln	PROT:Q9UPX8	SHANK2	K	715	Q	K715Q	Likely benign	0	1	38	5
MUT:SHANK2:Pro2Leu	PROT:Q9UPX8	SHANK2	P	2	L	P2L	Benign	0	1	38	152
MUT:SHANK2:Pro587Ser	PROT:Q9UPX8	SHANK2	P	587	S	P587S	Benign	0	1	38	26
MUT:SHANK2:Pro792Ser	PROT:Q9UPX8	SHANK2	P	792	S	P792S	Pathogenic	1	1	38	0
MUT:SHANK2:Pro888Ser	PROT:Q9UPX8	SHANK2	P	888	S	P888S	Likely benign	0	1	38	6
MUT:SHANK2:Ser1052Arg	PROT:Q9UPX8	SHANK2	S	1052	R	S1052R	Benign	0	1	38	27
MUT:SHANK2:Ser1521Phe	PROT:Q9UPX8	SHANK2	S	1521	F	S1521F	Likely benign	0	1	38	187
MUT:SHANK2:Ser557Asn	PROT:Q9UPX8	SHANK2	S	557	N	S557N	Likely benign	0	1	38	41
MUT:SHANK2:Thr69Met	PROT:Q9UPX8	SHANK2	T	69	M	T69M	Likely benign	0	1	38	85
MUT:SHANK2:Val1608Ile	PROT:Q9UPX8	SHANK2	V	1608	I	V1608I	Likely benign	0	1	38	274
MUT:SHANK3:Ala1248Thr	PROT:Q9BYB0	SHANK3	A	1248	T	A1248T	Benign/Likely benign	0	1	26	28
MUT:SHANK3:Ala1363Val	PROT:Q9BYB0	SHANK3	A	1363	V	A1363V	Likely benign	0	1	26	61
MUT:SHANK3:Ala806Thr	PROT:Q9BYB0	SHANK3	A	806	T	A806T	Likely benign	0	1	26	38
MUT:SHANK3:Arg1373Lys	PROT:Q9BYB0	SHANK3	R	1373	K	R1373K	Benign/Likely benign	0	1	26	51
MUT:SHANK3:Arg1703Ser	PROT:Q9BYB0	SHANK3	R	1703	S	R1703S	Pathogenic	1	1	26	79
MUT:SHANK3:Arg269Trp	PROT:Q9BYB0	SHANK3	R	269	W	R269W	Likely benign	0	1	26	80
MUT:SHANK3:Arg380Gly	PROT:Q9BYB0	SHANK3	R	380	G	R380G	Likely pathogenic	1	1	26	31
MUT:SHANK3:Arg536Pro	PROT:Q9BYB0	SHANK3	R	536	P	R536P	Benign	0	1	26	136
MUT:SHANK3:Arg611Trp	PROT:Q9BYB0	SHANK3	R	611	W	R611W	Pathogenic	1	1	26	61
MUT:SHANK3:Arg624Pro	PROT:Q9BYB0	SHANK3	R	624	P	R624P	Likely pathogenic	1	1	26	48
MUT:SHANK3:Arg700Cys	PROT:Q9BYB0	SHANK3	R	700	C	R700C	Likely benign	0	1	26	28
MUT:SHANK3:Asn355Lys	PROT:Q9BYB0	SHANK3	N	355	K	N355K	Likely pathogenic	1	1	26	6
MUT:SHANK3:Asp1340Val	PROT:Q9BYB0	SHANK3	D	1340	V	D1340V	Benign/Likely benign	0	1	26	84
MUT:SHANK3:Asp1564Tyr	PROT:Q9BYB0	SHANK3	D	1564	Y	D1564Y	Pathogenic	1	1	26	1
MUT:SHANK3:Asp279Glu	PROT:Q9BYB0	SHANK3	D	279	E	D279E	Likely benign	0	1	26	70
MUT:SHANK3:Asp491Glu	PROT:Q9BYB0	SHANK3	D	491	E	D491E	Likely benign	0	1	26	142
MUT:SHANK3:Asp790Asn	PROT:Q9BYB0	SHANK3	D	790	N	D790N	Likely benign	0	1	26	22
MUT:SHANK3:Gln112Pro	PROT:Q9BYB0	SHANK3	Q	112	P	Q112P	Likely benign	0	1	26	25
MUT:SHANK3:Gly1300Glu	PROT:Q9BYB0	SHANK3	G	1300	E	G1300E	Likely benign	0	1	26	80
MUT:SHANK3:Gly1730Ser	PROT:Q9BYB0	SHANK3	G	1730	S	G1730S	Likely benign	0	1	26	106
MUT:SHANK3:Gly505Ser	PROT:Q9BYB0	SHANK3	G	505	S	G505S	Benign/Likely benign	0	1	26	156
MUT:SHANK3:Gly710Glu	PROT:Q9BYB0	SHANK3	G	710	E	G710E	Likely benign	0	1	26	26
MUT:SHANK3:Ile320Thr	PROT:Q9BYB0	SHANK3	I	320	T	I320T	Benign	0	1	26	29
MUT:SHANK3:Leu1394Arg	PROT:Q9BYB0	SHANK3	L	1394	R	L1394R	Likely benign	0	1	26	30
MUT:SHANK3:Lys168Arg	PROT:Q9BYB0	SHANK3	K	168	R	K168R	Likely pathogenic	1	1	26	31
MUT:SHANK3:Met351Thr	PROT:Q9BYB0	SHANK3	M	351	T	M351T	Likely benign	0	1	26	2
MUT:SHANK3:Pro1080Ala	PROT:Q9BYB0	SHANK3	P	1080	A	P1080A	Benign	0	1	26	22
MUT:SHANK3:Pro1256Thr	PROT:Q9BYB0	SHANK3	P	1256	T	P1256T	Benign/Likely benign	0	1	26	36
MUT:SHANK3:Pro1712Leu	PROT:Q9BYB0	SHANK3	P	1712	L	P1712L	Likely benign	0	1	26	88
MUT:SHANK3:Pro216Ala	PROT:Q9BYB0	SHANK3	P	216	A	P216A	Likely pathogenic	1	1	26	79
MUT:SHANK3:Thr1102Ala	PROT:Q9BYB0	SHANK3	T	1102	A	T1102A	Likely benign	0	1	26	13
MUT:SHANK3:Val419Leu	PROT:Q9BYB0	SHANK3	V	419	L	V419L	Likely pathogenic	1	1	26	70
MUT:SHBG:Asp356Asn	PROT:P04278	SHBG	D	356	N	D356N	Benign	0	1	1	270
MUT:SHBG:Ser278Asn	PROT:P04278	SHBG	S	278	N	S278N	Likely benign	0	1	1	192
MUT:SIAH1:Asp162Asn	PROT:Q8IUQ4	SIAH1	D	162	N	D162N	Likely pathogenic	1	1	6	36
MUT:SIAH1:Cys128Phe	PROT:Q8IUQ4	SIAH1	C	128	F	C128F	Pathogenic	1	1	6	2
MUT:SIAH1:Cys41Gly	PROT:Q8IUQ4	SIAH1	C	41	G	C41G	Pathogenic	1	1	6	29
MUT:SIAH1:Gly174Arg	PROT:Q8IUQ4	SIAH1	G	174	R	G174R	Pathogenic	1	1	6	42
MUT:SIAH1:Met87Thr	PROT:Q8IUQ4	SIAH1	M	87	T	M87T	Likely pathogenic	1	1	6	13
MUT:SIAH1:Phe96Leu	PROT:Q8IUQ4	SIAH1	F	96	L	F96L	Likely pathogenic	1	1	6	22
MUT:SIAH1:Pro50Leu	PROT:Q8IUQ4	SIAH1	P	50	L	P50L	Likely pathogenic	1	2	6	20
MUT:SIAH1:Thr168Ala	PROT:Q8IUQ4	SIAH1	T	168	A	T168A	Pathogenic	1	1	6	42
MUT:SIDT1:Lys732Glu	PROT:Q9NXL6	SIDT1	K	732	E	K732E	Likely benign	0	1	1	334
MUT:SIGLEC10:Lys314Arg	PROT:Q96LC7	SIGLEC10	K	314	R	K314R	Likely benign	0	5	3	16
MUT:SIK3:Ala1098Thr	PROT:Q9Y2K2	SIK3	A	1098	T	A1098T	Benign/Likely benign	0	2	6	178
MUT:SIK3:Arg1090Cys	PROT:Q9Y2K2	SIK3	R	1090	C	R1090C	Benign/Likely benign	0	1	6	170
MUT:SIK3:Arg187Cys	PROT:Q9Y2K2	SIK3	R	187	C	R187C	Pathogenic	1	1	6	3
MUT:SIK3:Asp1146Glu	PROT:Q9Y2K2	SIK3	D	1146	E	D1146E	Benign	0	1	6	226
MUT:SIK3:Met317Arg	PROT:Q9Y2K2	SIK3	M	317	R	M317R	Likely pathogenic	1	1	6	94
MUT:SIK3:Pro1184Arg	PROT:Q9Y2K2	SIK3	P	1184	R	P1184R	Benign	0	2	6	264
MUT:SIK3:Tyr1007Cys	PROT:Q9Y2K2	SIK3	Y	1007	C	Y1007C	Likely benign	0	1	6	87
MUT:SIN3A:Asn145Asp	PROT:Q96ST3	SIN3A	N	145	D	N145D	Likely benign	0	1	53	21
MUT:SIN3A:Asn197Ser	PROT:Q96ST3	SIN3A	N	197	S	N197S	Likely benign	0	1	53	31
MUT:SIN3A:Asn655Ser	PROT:Q96ST3	SIN3A	N	655	S	N655S	Likely benign	0	1	53	5
MUT:SIN3A:Ile288Val	PROT:Q96ST3	SIN3A	I	288	V	I288V	Benign	0	1	53	4
MUT:SIN3A:Leu669His	PROT:Q96ST3	SIN3A	L	669	H	L669H	Likely pathogenic	1	1	53	7
MUT:SIN3A:Leu669Phe	PROT:Q96ST3	SIN3A	L	669	F	L669F	Likely pathogenic	1	1	53	7
MUT:SIN3A:Leu793Pro	PROT:Q96ST3	SIN3A	L	793	P	L793P	Likely pathogenic	1	1	53	36
MUT:SIN3A:Met1156Leu	PROT:Q96ST3	SIN3A	M	1156	L	M1156L	Benign/Likely benign	0	1	53	2
MUT:SIN3A:Met67Val	PROT:Q96ST3	SIN3A	M	67	V	M67V	Likely benign	0	1	53	44
MUT:SIN3A:Pro271Leu	PROT:Q96ST3	SIN3A	P	271	L	P271L	Likely benign	0	1	53	5
MUT:SIN3A:Pro417Ser	PROT:Q96ST3	SIN3A	P	417	S	P417S	Likely benign	0	1	53	4
MUT:SIN3A:Pro68Ser	PROT:Q96ST3	SIN3A	P	68	S	P68S	Likely benign	0	1	53	45
MUT:SIN3A:Val504Asp	PROT:Q96ST3	SIN3A	V	504	D	V504D	Likely pathogenic	1	1	53	35
MUT:SIPA1:Ala106Ser	PROT:Q96FS4	SIPA1	A	106	S	A106S	Benign	0	1	28	32
MUT:SIPA1:Gly921Val	PROT:Q96FS4	SIPA1	G	921	V	G921V	Benign	0	7	28	9
MUT:SIPA1L3:Ala131Val	PROT:O60292	SIPA1L3	A	131	V	A131V	Benign	0	1	45	11
MUT:SIPA1L3:Ala1561Pro	PROT:O60292	SIPA1L3	A	1561	P	A1561P	Benign	0	1	45	11
MUT:SIPA1L3:Ala283Val	PROT:O60292	SIPA1L3	A	283	V	A283V	Benign/Likely benign	0	7	45	13
MUT:SIPA1L3:Arg191Gln	PROT:O60292	SIPA1L3	R	191	Q	R191Q	Benign	0	1	45	16
MUT:SIPA1L3:Asp1299Glu	PROT:O60292	SIPA1L3	D	1299	E	D1299E	Benign	0	1	45	34
MUT:SIPA1L3:Ser472Asn	PROT:O60292	SIPA1L3	S	472	N	S472N	Likely benign	0	1	45	3
MUT:SIPA1L3:Ser944Pro	PROT:O60292	SIPA1L3	S	944	P	S944P	Benign/Likely benign	0	1	45	125
MUT:SIPA1L3:Thr968Met	PROT:O60292	SIPA1L3	T	968	M	T968M	Likely benign	0	1	45	101
MUT:SIRT1:Ala97Glu	PROT:Q96EB6	SIRT1	A	97	E	A97E	Likely benign	0	1	25	50
MUT:SIRT1:His170Arg	PROT:Q96EB6	SIRT1	H	170	R	H170R	Likely benign	0	1	25	8
MUT:SIRT1:Pro114Gln	PROT:Q96EB6	SIRT1	P	114	Q	P114Q	Benign/Likely benign	0	1	25	45
MUT:SIRT1:Pro37Leu	PROT:Q96EB6	SIRT1	P	37	L	P37L	Benign	0	1	25	10
MUT:SIRT2:Leu44Phe	PROT:Q8IXJ6	SIRT2	L	44	F	L44F	Benign	0	18	11	2
MUT:SIRT6:Arg121His	PROT:Q8N6T7	SIRT6	R	121	H	R121H	Likely pathogenic	1	1	12	7
MUT:SIRT6:Asp63His	PROT:Q8N6T7	SIRT6	D	63	H	D63H	Likely pathogenic	1	1	12	61
MUT:SIX2:Asn285His	PROT:Q9NPC8	SIX2	N	285	H	N285H	Benign	0	1	2	135
MUT:SIX3:Ala134Glu	PROT:O95343	SIX3	A	134	E	A134E	Likely pathogenic	1	1	6	24
MUT:SIX3:Ala20Ser	PROT:O95343	SIX3	A	20	S	A20S	Benign	0	1	6	6
MUT:SIX3:Arg194Pro	PROT:O95343	SIX3	R	194	P	R194P	Likely pathogenic	1	1	6	4
MUT:SIX3:Arg257Pro	PROT:O95343	SIX3	R	257	P	R257P	Likely pathogenic	1	1	6	32
MUT:SIX3:Gly37Cys	PROT:O95343	SIX3	G	37	C	G37C	Benign/Likely benign	0	4	6	11
MUT:SIX3:Leu226Val	PROT:O95343	SIX3	L	226	V	L226V	Pathogenic	1	1	6	1
MUT:SIX3:Pro277Gln	PROT:O95343	SIX3	P	277	Q	P277Q	Benign	0	2	6	52
MUT:SIX3:Ser48Gly	PROT:O95343	SIX3	S	48	G	S48G	Likely benign	0	1	6	22
MUT:SIX3:Trp113Cys	PROT:O95343	SIX3	W	113	C	W113C	Pathogenic	1	1	6	45
MUT:SIX3:Val250Ala	PROT:O95343	SIX3	V	250	A	V250A	Pathogenic	1	1	6	25
MUT:SIX3:Val92Gly	PROT:O95343	SIX3	V	92	G	V92G	Pathogenic	1	1	6	66
MUT:SIX6:Asp183Glu	PROT:O95475	SIX6	D	183	E	D183E	Likely pathogenic	1	1	13	15
MUT:SIX6:His141Asn	PROT:O95475	SIX6	H	141	N	H141N	Benign	0	2	13	5
MUT:SIX6:Ile246Asn	PROT:O95475	SIX6	I	246	N	I246N	Likely benign	0	1	13	21
MUT:SIX6:Leu37Pro	PROT:O95475	SIX6	L	37	P	L37P	Pathogenic	1	1	13	27
MUT:SKIDA1:Ala529Thr	PROT:Q1XH10	SKIDA1	A	529	T	A529T	Benign	0	1	3	234
MUT:SKIDA1:Val409Leu	PROT:Q1XH10	SKIDA1	V	409	L	V409L	Likely benign	0	1	3	328
MUT:SLA:Trp2501Arg	PROT:Q13239	SLA	W	2501	R	W2501R	Benign/Likely benign	0	1	7	2228
MUT:SLC10A2:Arg64Trp	PROT:Q12908	SLC10A2	R	64	W	R64W	Benign	0	1	1	271
MUT:SLC11A1:Arg419Gln	PROT:P49279	SLC11A1	R	419	Q	R419Q	Benign	0	3	1	7
MUT:SLC11A1:Gly498Ser	PROT:P49279	SLC11A1	G	498	S	G498S	Benign	0	2	1	86
MUT:SLC11A1:Leu292Pro	PROT:P49279	SLC11A1	L	292	P	L292P	Likely benign	0	1	1	120
MUT:SLC12A1:Ala139Thr	PROT:Q13621	SLC12A1	A	139	T	A139T	Benign/Likely benign	0	2	9	9
MUT:SLC12A1:Ala232Val	PROT:Q13621	SLC12A1	A	232	V	A232V	Benign/Likely benign	0	1	9	13
MUT:SLC12A1:Ala498Val	PROT:Q13621	SLC12A1	A	498	V	A498V	Likely pathogenic	1	2	9	253
MUT:SLC12A1:Ala508Thr	PROT:Q13621	SLC12A1	A	508	T	A508T	Pathogenic/Likely pathogenic	1	1	9	263
MUT:SLC12A1:Ala510Asp	PROT:Q13621	SLC12A1	A	510	D	A510D	Likely pathogenic	1	1	9	265
MUT:SLC12A1:Ala555Thr	PROT:Q13621	SLC12A1	A	555	T	A555T	Likely pathogenic	1	2	9	310
MUT:SLC12A1:Ala562Val	PROT:Q13621	SLC12A1	A	562	V	A562V	Likely pathogenic	1	1	9	317
MUT:SLC12A1:Ala628Asp	PROT:Q13621	SLC12A1	A	628	D	A628D	Likely pathogenic	1	1	9	383
MUT:SLC12A1:Ala733Val	PROT:Q13621	SLC12A1	A	733	V	A733V	Benign/Likely benign	0	1	9	488
MUT:SLC12A1:Ala737Val	PROT:Q13621	SLC12A1	A	737	V	A737V	Benign	0	2	9	492
MUT:SLC12A1:Arg439Gln	PROT:Q13621	SLC12A1	R	439	Q	R439Q	Pathogenic/Likely pathogenic	1	1	9	194
MUT:SLC12A1:Asp699Asn	PROT:Q13621	SLC12A1	D	699	N	D699N	Benign/Likely benign	0	2	9	454
MUT:SLC12A1:Cys475Tyr	PROT:Q13621	SLC12A1	C	475	Y	C475Y	Likely pathogenic	1	1	9	230
MUT:SLC12A1:Glu281Asp	PROT:Q13621	SLC12A1	E	281	D	E281D	Likely pathogenic	1	1	9	36
MUT:SLC12A1:Glu368Gly	PROT:Q13621	SLC12A1	E	368	G	E368G	Pathogenic/Likely pathogenic	1	1	9	123
MUT:SLC12A1:Gly257Ser	PROT:Q13621	SLC12A1	G	257	S	G257S	Pathogenic/Likely pathogenic	1	1	9	12
MUT:SLC12A1:Gly478Arg	PROT:Q13621	SLC12A1	G	478	R	G478R	Pathogenic/Likely pathogenic	1	1	9	233
MUT:SLC12A1:Gly612Arg	PROT:Q13621	SLC12A1	G	612	R	G612R	Likely pathogenic	1	1	9	367
MUT:SLC12A1:Leu560Pro	PROT:Q13621	SLC12A1	L	560	P	L560P	Likely pathogenic	1	1	9	315
MUT:SLC12A1:Val272Phe	PROT:Q13621	SLC12A1	V	272	F	V272F	Pathogenic	1	1	9	27
MUT:SLC12A1:Val438Asp	PROT:Q13621	SLC12A1	V	438	D	V438D	Likely pathogenic	1	1	9	193
MUT:SLC12A1:Val958Ala	PROT:Q13621	SLC12A1	V	958	A	V958A	Benign/Likely benign	0	1	9	713
MUT:SLC12A2:Ala327Val	PROT:P55011	SLC12A2	A	327	V	A327V	Pathogenic	1	1	34	26
MUT:SLC12A2:Ala797Ser	PROT:P55011	SLC12A2	A	797	S	A797S	Likely benign	0	1	34	36
MUT:SLC12A2:Asn376Ile	PROT:P55011	SLC12A2	N	376	I	N376I	Pathogenic	1	1	34	23
MUT:SLC12A2:Asp510Gly	PROT:P55011	SLC12A2	D	510	G	D510G	Likely benign	0	1	34	157
MUT:SLC12A2:Glu979Lys	PROT:P55011	SLC12A2	E	979	K	E979K	Pathogenic	1	2	34	3
MUT:SLC12A2:Glu980Lys	PROT:P55011	SLC12A2	E	980	K	E980K	Pathogenic	1	1	34	3
MUT:SLC12A2:Pro988Ser	PROT:P55011	SLC12A2	P	988	S	P988S	Pathogenic	1	1	34	3
MUT:SLC12A2:Thr276Ala	PROT:P55011	SLC12A2	T	276	A	T276A	Likely benign	0	1	34	1
MUT:SLC13A5:Ala215Ser	PROT:Q86YT5	SLC13A5	A	215	S	A215S	Likely benign	0	1	5	31
MUT:SLC13A5:Asp524His	PROT:Q86YT5	SLC13A5	D	524	H	D524H	Pathogenic	1	1	5	94
MUT:SLC13A5:Gly219Arg	PROT:Q86YT5	SLC13A5	G	219	R	G219R	Pathogenic/Likely pathogenic	1	1	5	35
MUT:SLC13A5:Leu111Arg	PROT:Q86YT5	SLC13A5	L	111	R	L111R	Likely pathogenic	1	1	5	29
MUT:SLC13A5:Leu488Pro	PROT:Q86YT5	SLC13A5	L	488	P	L488P	Likely pathogenic	1	1	5	58
MUT:SLC13A5:Leu492Pro	PROT:Q86YT5	SLC13A5	L	492	P	L492P	Likely pathogenic	1	1	5	62
MUT:SLC13A5:Pro68Ser	PROT:Q86YT5	SLC13A5	P	68	S	P68S	Likely pathogenic	1	1	5	72
MUT:SLC13A5:Ser427Leu	PROT:Q86YT5	SLC13A5	S	427	L	S427L	Pathogenic/Likely pathogenic	1	2	5	0
MUT:SLC13A5:Ser499Phe	PROT:Q86YT5	SLC13A5	S	499	F	S499F	Likely pathogenic	1	1	5	69
MUT:SLC13A5:Thr142Met	PROT:Q86YT5	SLC13A5	T	142	M	T142M	Pathogenic/Likely pathogenic	1	2	5	2
MUT:SLC13A5:Thr227Met	PROT:Q86YT5	SLC13A5	T	227	M	T227M	Pathogenic/Likely pathogenic	1	2	5	43
MUT:SLC13A5:Thr460Asn	PROT:Q86YT5	SLC13A5	T	460	N	T460N	Likely pathogenic	1	1	5	30
MUT:SLC13A5:Val344Ile	PROT:Q86YT5	SLC13A5	V	344	I	V344I	Likely benign	0	1	5	80
MUT:SLC14A1:Asp280Asn	PROT:Q13336	SLC14A1	D	280	N	D280N	Benign	0	2	1	268
MUT:SLC14A1:Glu44Lys	PROT:Q13336	SLC14A1	E	44	K	E44K	Benign	0	1	1	32
MUT:SLC14A1:Ser291Pro	PROT:Q13336	SLC14A1	S	291	P	S291P	Pathogenic	1	1	1	279
MUT:SLC19A2:Gly105Glu	PROT:O60779	SLC19A2	G	105	E	G105E	Pathogenic/Likely pathogenic	1	1	4	117
MUT:SLC19A2:Gly172Asp	PROT:O60779	SLC19A2	G	172	D	G172D	Pathogenic/Likely pathogenic	1	1	4	50
MUT:SLC19A2:Gly334Asp	PROT:O60779	SLC19A2	G	334	D	G334D	Pathogenic/Likely pathogenic	1	1	4	112
MUT:SLC19A2:Ile441Thr	PROT:O60779	SLC19A2	I	441	T	I441T	Benign	0	1	4	43
MUT:SLC19A2:Ser143Phe	PROT:O60779	SLC19A2	S	143	F	S143F	Pathogenic	1	2	4	79
MUT:SLC19A2:Thr365Ser	PROT:O60779	SLC19A2	T	365	S	T365S	Benign/Likely benign	0	1	4	119
MUT:SLC19A2:Val266Met	PROT:O60779	SLC19A2	V	266	M	V266M	Benign	0	2	4	44
MUT:SLC19A3:Ala150Val	PROT:Q9BZV2	SLC19A3	A	150	V	A150V	Likely pathogenic	1	1	1	62
MUT:SLC19A3:Ala321Val	PROT:Q9BZV2	SLC19A3	A	321	V	A321V	Pathogenic	1	1	1	109
MUT:SLC19A3:Ala323Gly	PROT:Q9BZV2	SLC19A3	A	323	G	A323G	Benign	0	1	1	111
MUT:SLC19A3:Asn173Asp	PROT:Q9BZV2	SLC19A3	N	173	D	N173D	Likely pathogenic	1	1	1	39
MUT:SLC19A3:Asp260Val	PROT:Q9BZV2	SLC19A3	D	260	V	D260V	Likely benign	0	1	1	48
MUT:SLC19A3:Glu320Gln	PROT:Q9BZV2	SLC19A3	E	320	Q	E320Q	Pathogenic	1	1	1	108
MUT:SLC19A3:Gly141Ser	PROT:Q9BZV2	SLC19A3	G	141	S	G141S	Benign/Likely benign	0	1	1	71
MUT:SLC19A3:Gly23Arg	PROT:Q9BZV2	SLC19A3	G	23	R	G23R	Likely pathogenic	1	1	1	189
MUT:SLC19A3:Gly23Val	PROT:Q9BZV2	SLC19A3	G	23	V	G23V	Pathogenic/Likely pathogenic	1	1	1	189
MUT:SLC19A3:Gly317Glu	PROT:Q9BZV2	SLC19A3	G	317	E	G317E	Likely pathogenic	1	1	1	105
MUT:SLC19A3:Ile301Val	PROT:Q9BZV2	SLC19A3	I	301	V	I301V	Likely benign	0	1	1	89
MUT:SLC19A3:Ile378Val	PROT:Q9BZV2	SLC19A3	I	378	V	I378V	Benign/Likely benign	0	2	1	166
MUT:SLC19A3:Leu66Pro	PROT:Q9BZV2	SLC19A3	L	66	P	L66P	Pathogenic	1	1	1	146
MUT:SLC19A3:Lys44Glu	PROT:Q9BZV2	SLC19A3	K	44	E	K44E	Pathogenic	1	1	1	168
MUT:SLC19A3:Met1Leu	PROT:Q9BZV2	SLC19A3	M	1	L	M1L	Likely pathogenic	1	1	1	211
MUT:SLC19A3:Pro57Arg	PROT:Q9BZV2	SLC19A3	P	57	R	P57R	Likely pathogenic	1	1	1	155
MUT:SLC19A3:Ser181Pro	PROT:Q9BZV2	SLC19A3	S	181	P	S181P	Pathogenic	1	1	1	31
MUT:SLC19A3:Thr422Ala	PROT:Q9BZV2	SLC19A3	T	422	A	T422A	Pathogenic	1	2	1	210
MUT:SLC19A3:Thr422Pro	PROT:Q9BZV2	SLC19A3	T	422	P	T422P	Likely pathogenic	1	1	1	210
MUT:SLC19A3:Trp284Arg	PROT:Q9BZV2	SLC19A3	W	284	R	W284R	Pathogenic	1	1	1	72
MUT:SLC19A3:Trp94Arg	PROT:Q9BZV2	SLC19A3	W	94	R	W94R	Pathogenic/Likely pathogenic	1	1	1	118
MUT:SLC19A3:Tyr113His	PROT:Q9BZV2	SLC19A3	Y	113	H	Y113H	Pathogenic/Likely pathogenic	1	1	1	99
MUT:SLC19A3:Val174Ile	PROT:Q9BZV2	SLC19A3	V	174	I	V174I	Benign	0	1	1	38
MUT:SLC19A3:Val350Ala	PROT:Q9BZV2	SLC19A3	V	350	A	V350A	Benign	0	1	1	138
MUT:SLC1A2:Arg31Gln	PROT:P43004	SLC1A2	R	31	Q	R31Q	Benign/Likely benign	0	2	2	6
MUT:SLC1A2:Gly291Val	PROT:P43004	SLC1A2	G	291	V	G291V	Likely pathogenic	1	1	2	266
MUT:SLC1A2:Gly6Val	PROT:P43004	SLC1A2	G	6	V	G6V	Benign	0	1	2	19
MUT:SLC1A2:Gly82Arg	PROT:P43004	SLC1A2	G	82	R	G82R	Pathogenic	1	1	2	57
MUT:SLC1A2:His542Arg	PROT:P43004	SLC1A2	H	542	R	H542R	Likely pathogenic	1	1	2	18
MUT:SLC1A2:Ile230Thr	PROT:P43004	SLC1A2	I	230	T	I230T	Likely pathogenic	1	1	2	205
MUT:SLC1A2:Ile276Ser	PROT:P43004	SLC1A2	I	276	S	I276S	Likely pathogenic	1	1	2	251
MUT:SLC1A2:Leu214Pro	PROT:P43004	SLC1A2	L	214	P	L214P	Likely benign	0	1	2	189
MUT:SLC1A2:Lys498Arg	PROT:P43004	SLC1A2	K	498	R	K498R	Likely benign	0	1	2	62
MUT:SLC1A2:Pro289Arg	PROT:P43004	SLC1A2	P	289	R	P289R	Pathogenic/Likely pathogenic	1	1	2	264
MUT:SLC1A2:Val419Ile	PROT:P43004	SLC1A2	V	419	I	V419I	Likely benign	0	1	2	141
MUT:SLC1A3:Arg226Gly	PROT:P43003	SLC1A3	R	226	G	R226G	Benign/Likely benign	0	2	15	35
MUT:SLC1A3:Arg23His	PROT:P43003	SLC1A3	R	23	H	R23H	Benign/Likely benign	0	1	15	3
MUT:SLC1A3:Arg385His	PROT:P43003	SLC1A3	R	385	H	R385H	Benign/Likely benign	0	2	15	1
MUT:SLC1A3:Cys186Ser	PROT:P43003	SLC1A3	C	186	S	C186S	Pathogenic	1	1	15	5
MUT:SLC1A3:Glu219Asp	PROT:P43003	SLC1A3	E	219	D	E219D	Benign	0	1	15	28
MUT:SLC1A3:Pro290Arg	PROT:P43003	SLC1A3	P	290	R	P290R	Pathogenic	1	1	15	94
MUT:SLC1A5:Glu253Lys	PROT:Q15758	SLC1A5	E	253	K	E253K	Benign	0	1	10	55
MUT:SLC1A5:Glu253Val	PROT:Q15758	SLC1A5	E	253	V	E253V	Benign	0	1	10	55
MUT:SLC1A5:Pro221Arg	PROT:Q15758	SLC1A5	P	221	R	P221R	Likely benign	0	2	10	23
MUT:SLC22A8:Arg513Gln	PROT:Q8TCC7	SLC22A8	R	513	Q	R513Q	Likely benign	0	2	1	509
MUT:SLC24A2:Asn601Ser	PROT:Q9UI40	SLC24A2	N	601	S	N601S	Benign/Likely benign	0	1	1	475
MUT:SLC24A3:Leu249Val	PROT:Q9HC58	SLC24A3	L	249	V	L249V	Likely benign	0	5	1	207
MUT:SLC25A11:Glu141Lys	PROT:Q02978	SLC25A11	E	141	K	E141K	Pathogenic	1	1	10	21
MUT:SLC25A11:Met147Val	PROT:Q02978	SLC25A11	M	147	V	M147V	Pathogenic	1	1	10	15
MUT:SLC25A11:Pro239Thr	PROT:Q02978	SLC25A11	P	239	T	P239T	Pathogenic	1	1	10	17
MUT:SLC25A19:Ala184Pro	PROT:Q9HC21	SLC25A19	A	184	P	A184P	Pathogenic	1	1	3	3
MUT:SLC25A19:Ala31Val	PROT:Q9HC21	SLC25A19	A	31	V	A31V	Likely benign	0	1	3	20
MUT:SLC25A19:Ala65Val	PROT:Q9HC21	SLC25A19	A	65	V	A65V	Pathogenic	1	1	3	14
MUT:SLC25A19:Gln192His	PROT:Q9HC21	SLC25A19	Q	192	H	Q192H	Pathogenic	1	1	3	4
MUT:SLC25A19:Glu304Lys	PROT:Q9HC21	SLC25A19	E	304	K	E304K	Pathogenic	1	1	3	116
MUT:SLC25A19:Gly125Ser	PROT:Q9HC21	SLC25A19	G	125	S	G125S	Pathogenic	1	2	3	56
MUT:SLC25A19:Gly177Ala	PROT:Q9HC21	SLC25A19	G	177	A	G177A	Pathogenic	1	1	3	4
MUT:SLC25A19:Gly26Arg	PROT:Q9HC21	SLC25A19	G	26	R	G26R	Pathogenic	1	1	3	25
MUT:SLC25A19:Leu290Gln	PROT:Q9HC21	SLC25A19	L	290	Q	L290Q	Pathogenic	1	1	3	102
MUT:SLC25A19:Lys80Asn	PROT:Q9HC21	SLC25A19	K	80	N	K80N	Likely pathogenic	1	1	3	29
MUT:SLC25A19:Met131Val	PROT:Q9HC21	SLC25A19	M	131	V	M131V	Likely benign	0	1	3	50
MUT:SLC25A19:Phe249Ile	PROT:Q9HC21	SLC25A19	F	249	I	F249I	Pathogenic	1	1	3	61
MUT:SLC25A19:Pro152Thr	PROT:Q9HC21	SLC25A19	P	152	T	P152T	Pathogenic	1	1	3	29
MUT:SLC25A19:Ser302Trp	PROT:Q9HC21	SLC25A19	S	302	W	S302W	Likely benign	0	1	3	114
MUT:SLC25A19:Thr157Met	PROT:Q9HC21	SLC25A19	T	157	M	T157M	Likely pathogenic	1	1	3	24
MUT:SLC25A19:Val83Ile	PROT:Q9HC21	SLC25A19	V	83	I	V83I	Likely benign	0	1	3	32
MUT:SLC25A1:Ala274Val	PROT:P53007	SLC25A1	A	274	V	A274V	Likely pathogenic	1	2	11	3
MUT:SLC25A1:Arg247Gln	PROT:P53007	SLC25A1	R	247	Q	R247Q	Pathogenic	1	1	11	30
MUT:SLC25A1:Arg282Cys	PROT:P53007	SLC25A1	R	282	C	R282C	Pathogenic/Likely pathogenic	1	2	11	5
MUT:SLC25A1:Arg282Gly	PROT:P53007	SLC25A1	R	282	G	R282G	Likely pathogenic	1	1	11	5
MUT:SLC25A1:Arg282His	PROT:P53007	SLC25A1	R	282	H	R282H	Likely pathogenic	1	1	11	5
MUT:SLC25A1:Cys41Arg	PROT:P53007	SLC25A1	C	41	R	C41R	Likely pathogenic	1	1	11	56
MUT:SLC25A1:Ser193Leu	PROT:P53007	SLC25A1	S	193	L	S193L	Likely pathogenic	1	1	11	3
MUT:SLC25A20:Ala281Val	PROT:O43772	SLC25A20	A	281	V	A281V	Pathogenic/Likely pathogenic	1	1	2	37
MUT:SLC25A20:Arg133Trp	PROT:O43772	SLC25A20	R	133	W	R133W	Pathogenic/Likely pathogenic	1	2	2	72
MUT:SLC25A20:Arg178Gln	PROT:O43772	SLC25A20	R	178	Q	R178Q	Pathogenic/Likely pathogenic	1	1	2	27
MUT:SLC25A20:Arg258Gln	PROT:O43772	SLC25A20	R	258	Q	R258Q	Benign/Likely benign	0	2	2	14
MUT:SLC25A20:Arg275Gln	PROT:O43772	SLC25A20	R	275	Q	R275Q	Pathogenic/Likely pathogenic	1	1	2	31
MUT:SLC25A20:Asp231His	PROT:O43772	SLC25A20	D	231	H	D231H	Pathogenic/Likely pathogenic	1	1	2	13
MUT:SLC25A20:Gln238Arg	PROT:O43772	SLC25A20	Q	238	R	Q238R	Pathogenic	1	1	2	6
MUT:SLC25A20:Gly81Arg	PROT:O43772	SLC25A20	G	81	R	G81R	Likely pathogenic	1	1	2	124
MUT:SLC25A20:Met1Val	PROT:O43772	SLC25A20	M	1	V	M1V	Pathogenic	1	1	2	204
MUT:SLC25A20:Pro230Arg	PROT:O43772	SLC25A20	P	230	R	P230R	Likely pathogenic	1	1	2	14
MUT:SLC25A20:Pro5Ala	PROT:O43772	SLC25A20	P	5	A	P5A	Likely benign	0	1	2	200
MUT:SLC25A24:Arg217Cys	PROT:Q6NUK1	SLC25A24	R	217	C	R217C	Pathogenic	1	1	7	12
MUT:SLC25A24:Arg217His	PROT:Q6NUK1	SLC25A24	R	217	H	R217H	Pathogenic/Likely pathogenic	1	1	7	12
MUT:SLC25A24:Asp68His	PROT:Q6NUK1	SLC25A24	D	68	H	D68H	Likely benign	0	1	7	117
MUT:SLC25A25:Gln361His	PROT:Q6KCM7	SLC25A25	Q	361	H	Q361H	Pathogenic	1	1	4	49
MUT:SLC25A32:Gly276Ser	PROT:Q9H2D1	SLC25A32	G	276	S	G276S	Benign	0	1	6	100
MUT:SLC25A32:Tyr300Cys	PROT:Q9H2D1	SLC25A32	Y	300	C	Y300C	Benign/Likely benign	0	2	6	124
MUT:SLC25A38:Arg134Cys	PROT:Q96DW6	SLC25A38	R	134	C	R134C	Pathogenic	1	1	1	48
MUT:SLC25A38:Arg134His	PROT:Q96DW6	SLC25A38	R	134	H	R134H	Pathogenic	1	1	1	48
MUT:SLC25A38:Arg150Cys	PROT:Q96DW6	SLC25A38	R	150	C	R150C	Likely pathogenic	1	1	1	32
MUT:SLC25A38:Arg278Gly	PROT:Q96DW6	SLC25A38	R	278	G	R278G	Pathogenic	1	1	1	96
MUT:SLC25A38:Arg66Gly	PROT:Q96DW6	SLC25A38	R	66	G	R66G	Benign/Likely benign	0	3	1	116
MUT:SLC25A38:Asp188His	PROT:Q96DW6	SLC25A38	D	188	H	D188H	Pathogenic	1	1	1	6
MUT:SLC25A38:Asp209His	PROT:Q96DW6	SLC25A38	D	209	H	D209H	Pathogenic/Likely pathogenic	1	1	1	27
MUT:SLC25A38:Gln56Lys	PROT:Q96DW6	SLC25A38	Q	56	K	Q56K	Pathogenic	1	1	1	126
MUT:SLC25A38:Gly102Glu	PROT:Q96DW6	SLC25A38	G	102	E	G102E	Pathogenic	1	1	1	80
MUT:SLC25A38:Gly130Arg	PROT:Q96DW6	SLC25A38	G	130	R	G130R	Pathogenic	1	1	1	52
MUT:SLC25A38:Gly130Glu	PROT:Q96DW6	SLC25A38	G	130	E	G130E	Pathogenic	1	1	1	52
MUT:SLC25A38:Gly157Arg	PROT:Q96DW6	SLC25A38	G	157	R	G157R	Pathogenic	1	1	1	25
MUT:SLC25A38:Ile147Asn	PROT:Q96DW6	SLC25A38	I	147	N	I147N	Pathogenic	1	1	1	35
MUT:SLC25A38:Ile94Asn	PROT:Q96DW6	SLC25A38	I	94	N	I94N	Pathogenic	1	1	1	88
MUT:SLC25A38:Leu196Pro	PROT:Q96DW6	SLC25A38	L	196	P	L196P	Pathogenic	1	1	1	14
MUT:SLC25A38:Leu230Pro	PROT:Q96DW6	SLC25A38	L	230	P	L230P	Pathogenic	1	1	1	48
MUT:SLC25A38:Met128Val	PROT:Q96DW6	SLC25A38	M	128	V	M128V	Benign/Likely benign	0	2	1	54
MUT:SLC25A38:Pro92Arg	PROT:Q96DW6	SLC25A38	P	92	R	P92R	Likely pathogenic	1	1	1	90
MUT:SLC25A38:Val127Ile	PROT:Q96DW6	SLC25A38	V	127	I	V127I	Likely benign	0	1	1	55
MUT:SLC25A46:Ala18Ser	PROT:Q96AG3	SLC25A46	A	18	S	A18S	Likely benign	0	1	13	14
MUT:SLC25A46:Arg257Gln	PROT:Q96AG3	SLC25A46	R	257	Q	R257Q	Likely pathogenic	1	1	13	16
MUT:SLC25A46:Arg340Cys	PROT:Q96AG3	SLC25A46	R	340	C	R340C	Pathogenic/Likely pathogenic	1	1	13	99
MUT:SLC25A46:Glu335Asp	PROT:Q96AG3	SLC25A46	E	335	D	E335D	Pathogenic	1	1	13	94
MUT:SLC25A46:Glu379Asp	PROT:Q96AG3	SLC25A46	E	379	D	E379D	Benign	0	1	13	138
MUT:SLC25A46:Leu138Arg	PROT:Q96AG3	SLC25A46	L	138	R	L138R	Pathogenic	1	1	13	2
MUT:SLC25A46:Leu341Pro	PROT:Q96AG3	SLC25A46	L	341	P	L341P	Pathogenic	1	1	13	100
MUT:SLC25A46:Lys256Arg	PROT:Q96AG3	SLC25A46	K	256	R	K256R	Benign/Likely benign	0	2	13	15
MUT:SLC25A46:Pro260Leu	PROT:Q96AG3	SLC25A46	P	260	L	P260L	Likely pathogenic	1	1	13	19
MUT:SLC25A46:Pro333Leu	PROT:Q96AG3	SLC25A46	P	333	L	P333L	Pathogenic	1	1	13	92
MUT:SLC25A46:Ser93Asn	PROT:Q96AG3	SLC25A46	S	93	N	S93N	Likely benign	0	2	13	29
MUT:SLC25A46:Thr139Asn	PROT:Q96AG3	SLC25A46	T	139	N	T139N	Benign/Likely benign	0	2	13	3
MUT:SLC25A46:Thr142Ile	PROT:Q96AG3	SLC25A46	T	142	I	T142I	Pathogenic	1	1	13	6
MUT:SLC25A46:Trp160Ser	PROT:Q96AG3	SLC25A46	W	160	S	W160S	Pathogenic	1	1	13	24
MUT:SLC25A46:Val211Met	PROT:Q96AG3	SLC25A46	V	211	M	V211M	Benign/Likely benign	0	2	13	14
MUT:SLC25A5:Gly121Cys	PROT:P05141	SLC25A5	G	121	C	G121C	Benign	0	1	18	14
MUT:SLC25A5:Lys296Asn	PROT:P05141	SLC25A5	K	296	N	K296N	Benign	0	1	18	20
MUT:SLC25A5:Thr298Ile	PROT:P05141	SLC25A5	T	298	I	T298I	Benign	0	1	18	22
MUT:SLC26A2:Ala386Val	PROT:P50443	SLC26A2	A	386	V	A386V	Pathogenic/Likely pathogenic	1	2	9	210
MUT:SLC26A2:Ala461Val	PROT:P50443	SLC26A2	A	461	V	A461V	Likely pathogenic	1	1	9	135
MUT:SLC26A2:Ala715Val	PROT:P50443	SLC26A2	A	715	V	A715V	Pathogenic/Likely pathogenic	1	3	9	114
MUT:SLC26A2:Arg279Trp	PROT:P50443	SLC26A2	R	279	W	R279W	Pathogenic/Likely pathogenic	1	8	9	212
MUT:SLC26A2:Arg492Trp	PROT:P50443	SLC26A2	R	492	W	R492W	Benign/Likely benign	0	6	9	104
MUT:SLC26A2:Asn10Asp	PROT:P50443	SLC26A2	N	10	D	N10D	Likely benign	0	1	9	12
MUT:SLC26A2:Asn425Asp	PROT:P50443	SLC26A2	N	425	D	N425D	Pathogenic/Likely pathogenic	1	2	9	171
MUT:SLC26A2:Asp111Tyr	PROT:P50443	SLC26A2	D	111	Y	D111Y	Likely pathogenic	1	1	9	44
MUT:SLC26A2:Asp250Val	PROT:P50443	SLC26A2	D	250	V	D250V	Likely pathogenic	1	1	9	183
MUT:SLC26A2:Cys653Gly	PROT:P50443	SLC26A2	C	653	G	C653G	Likely pathogenic	1	1	9	52
MUT:SLC26A2:Cys653Ser	PROT:P50443	SLC26A2	C	653	S	C653S	Pathogenic/Likely pathogenic	1	8	9	52
MUT:SLC26A2:Gln125Leu	PROT:P50443	SLC26A2	Q	125	L	Q125L	Pathogenic	1	1	9	58
MUT:SLC26A2:Gln454Pro	PROT:P50443	SLC26A2	Q	454	P	Q454P	Likely pathogenic	1	4	9	142
MUT:SLC26A2:Gln97Arg	PROT:P50443	SLC26A2	Q	97	R	Q97R	Likely benign	0	1	9	30
MUT:SLC26A2:Gly166Arg	PROT:P50443	SLC26A2	G	166	R	G166R	Likely pathogenic	1	1	9	99
MUT:SLC26A2:Gly259Val	PROT:P50443	SLC26A2	G	259	V	G259V	Likely pathogenic	1	2	9	192
MUT:SLC26A2:Gly484Arg	PROT:P50443	SLC26A2	G	484	R	G484R	Likely pathogenic	1	1	9	112
MUT:SLC26A2:Gly484Asp	PROT:P50443	SLC26A2	G	484	D	G484D	Likely pathogenic	1	1	9	112
MUT:SLC26A2:Gly663Arg	PROT:P50443	SLC26A2	G	663	R	G663R	Pathogenic/Likely pathogenic	1	3	9	62
MUT:SLC26A2:Gly678Val	PROT:P50443	SLC26A2	G	678	V	G678V	Likely pathogenic	1	4	9	77
MUT:SLC26A2:His665Pro	PROT:P50443	SLC26A2	H	665	P	H665P	Pathogenic/Likely pathogenic	1	2	9	64
MUT:SLC26A2:Ile219Val	PROT:P50443	SLC26A2	I	219	V	I219V	Benign/Likely benign	0	6	9	152
MUT:SLC26A2:Ile574Thr	PROT:P50443	SLC26A2	I	574	T	I574T	Benign	0	6	9	22
MUT:SLC26A2:Leu315Pro	PROT:P50443	SLC26A2	L	315	P	L315P	Likely pathogenic	1	1	9	248
MUT:SLC26A2:Leu483Pro	PROT:P50443	SLC26A2	L	483	P	L483P	Pathogenic/Likely pathogenic	1	3	9	113
MUT:SLC26A2:Leu628Phe	PROT:P50443	SLC26A2	L	628	F	L628F	Likely benign	0	1	9	27
MUT:SLC26A2:Met1Ile	PROT:P50443	SLC26A2	M	1	I	M1I	Likely pathogenic	1	2	9	21
MUT:SLC26A2:Met1Lys	PROT:P50443	SLC26A2	M	1	K	M1K	Likely pathogenic	1	1	9	21
MUT:SLC26A2:Met418Arg	PROT:P50443	SLC26A2	M	418	R	M418R	Likely pathogenic	1	1	9	178
MUT:SLC26A2:Ser157Pro	PROT:P50443	SLC26A2	S	157	P	S157P	Likely pathogenic	1	1	9	90
MUT:SLC26A2:Ser522Phe	PROT:P50443	SLC26A2	S	522	F	S522F	Pathogenic	1	1	9	74
MUT:SLC26A2:Thr453Ile	PROT:P50443	SLC26A2	T	453	I	T453I	Likely pathogenic	1	1	9	143
MUT:SLC26A2:Thr512Lys	PROT:P50443	SLC26A2	T	512	K	T512K	Pathogenic	1	4	9	84
MUT:SLC26A2:Thr689Ser	PROT:P50443	SLC26A2	T	689	S	T689S	Benign/Likely benign	0	6	9	88
MUT:SLC26A2:Val728Ile	PROT:P50443	SLC26A2	V	728	I	V728I	Likely benign	0	1	9	127
MUT:SLC26A4:Ala106Asp	PROT:O43511	SLC26A4	A	106	D	A106D	Pathogenic	1	1	7	31
MUT:SLC26A4:Ala106Val	PROT:O43511	SLC26A4	A	106	V	A106V	Likely pathogenic	1	3	7	31
MUT:SLC26A4:Ala109Pro	PROT:O43511	SLC26A4	A	109	P	A109P	Pathogenic	1	1	7	28
MUT:SLC26A4:Ala189Ser	PROT:O43511	SLC26A4	A	189	S	A189S	Benign	0	1	7	44
MUT:SLC26A4:Ala227Pro	PROT:O43511	SLC26A4	A	227	P	A227P	Pathogenic	1	1	7	82
MUT:SLC26A4:Ala357Thr	PROT:O43511	SLC26A4	A	357	T	A357T	Likely benign	0	3	7	91
MUT:SLC26A4:Ala360Val	PROT:O43511	SLC26A4	A	360	V	A360V	Pathogenic/Likely pathogenic	1	2	7	88
MUT:SLC26A4:Ala372Val	PROT:O43511	SLC26A4	A	372	V	A372V	Pathogenic	1	2	7	76
MUT:SLC26A4:Ala387Val	PROT:O43511	SLC26A4	A	387	V	A387V	Pathogenic/Likely pathogenic	1	2	7	61
MUT:SLC26A4:Ala403Ser	PROT:O43511	SLC26A4	A	403	S	A403S	Likely pathogenic	1	1	7	45
MUT:SLC26A4:Ala403Val	PROT:O43511	SLC26A4	A	403	V	A403V	Likely pathogenic	1	1	7	45
MUT:SLC26A4:Ala406Thr	PROT:O43511	SLC26A4	A	406	T	A406T	Likely pathogenic	1	1	7	42
MUT:SLC26A4:Ala411Pro	PROT:O43511	SLC26A4	A	411	P	A411P	Pathogenic/Likely pathogenic	1	3	7	37
MUT:SLC26A4:Ala411Thr	PROT:O43511	SLC26A4	A	411	T	A411T	Likely pathogenic	1	1	7	37
MUT:SLC26A4:Ala451Glu	PROT:O43511	SLC26A4	A	451	E	A451E	Likely pathogenic	1	1	7	3
MUT:SLC26A4:Ala574Thr	PROT:O43511	SLC26A4	A	574	T	A574T	Likely pathogenic	1	1	7	27
MUT:SLC26A4:Ala599Val	PROT:O43511	SLC26A4	A	599	V	A599V	Likely benign	0	2	7	2
MUT:SLC26A4:Ala664Val	PROT:O43511	SLC26A4	A	664	V	A664V	Pathogenic/Likely pathogenic	1	1	7	17
MUT:SLC26A4:Arg134Thr	PROT:O43511	SLC26A4	R	134	T	R134T	Likely pathogenic	1	1	7	3
MUT:SLC26A4:Arg185Thr	PROT:O43511	SLC26A4	R	185	T	R185T	Likely pathogenic	1	4	7	40
MUT:SLC26A4:Arg24Gly	PROT:O43511	SLC26A4	R	24	G	R24G	Likely pathogenic	1	1	7	113
MUT:SLC26A4:Arg24Leu	PROT:O43511	SLC26A4	R	24	L	R24L	Likely pathogenic	1	1	7	113
MUT:SLC26A4:Arg409Cys	PROT:O43511	SLC26A4	R	409	C	R409C	Pathogenic/Likely pathogenic	1	2	7	39
MUT:SLC26A4:Arg409His	PROT:O43511	SLC26A4	R	409	H	R409H	Pathogenic/Likely pathogenic	1	5	7	39
MUT:SLC26A4:Arg409Leu	PROT:O43511	SLC26A4	R	409	L	R409L	Likely pathogenic	1	1	7	39
MUT:SLC26A4:Arg409Pro	PROT:O43511	SLC26A4	R	409	P	R409P	Likely pathogenic	1	4	7	39
MUT:SLC26A4:Arg549Gly	PROT:O43511	SLC26A4	R	549	G	R549G	Likely pathogenic	1	1	7	23
MUT:SLC26A4:Asn324Tyr	PROT:O43511	SLC26A4	N	324	Y	N324Y	Benign/Likely benign	0	2	7	124
MUT:SLC26A4:Asn392Tyr	PROT:O43511	SLC26A4	N	392	Y	N392Y	Pathogenic	1	2	7	56
MUT:SLC26A4:Asn457Asp	PROT:O43511	SLC26A4	N	457	D	N457D	Likely pathogenic	1	2	7	9
MUT:SLC26A4:Asn457Ile	PROT:O43511	SLC26A4	N	457	I	N457I	Pathogenic/Likely pathogenic	1	2	7	9
MUT:SLC26A4:Asn457Lys	PROT:O43511	SLC26A4	N	457	K	N457K	Pathogenic	1	3	7	9
MUT:SLC26A4:Asn558Ser	PROT:O43511	SLC26A4	N	558	S	N558S	Pathogenic/Likely pathogenic	1	3	7	32
MUT:SLC26A4:Asp271Gly	PROT:O43511	SLC26A4	D	271	G	D271G	Likely pathogenic	1	1	7	126
MUT:SLC26A4:Asp271Tyr	PROT:O43511	SLC26A4	D	271	Y	D271Y	Likely pathogenic	1	1	7	126
MUT:SLC26A4:Asp573His	PROT:O43511	SLC26A4	D	573	H	D573H	Likely pathogenic	1	1	7	28
MUT:SLC26A4:Asp573Tyr	PROT:O43511	SLC26A4	D	573	Y	D573Y	Likely pathogenic	1	2	7	28
MUT:SLC26A4:Asp669Asn	PROT:O43511	SLC26A4	D	669	N	D669N	Pathogenic/Likely pathogenic	1	2	7	12
MUT:SLC26A4:Asp669Glu	PROT:O43511	SLC26A4	D	669	E	D669E	Pathogenic/Likely pathogenic	1	2	7	12
MUT:SLC26A4:Asp669Val	PROT:O43511	SLC26A4	D	669	V	D669V	Likely pathogenic	1	2	7	12
MUT:SLC26A4:Asp697Ala	PROT:O43511	SLC26A4	D	697	A	D697A	Pathogenic/Likely pathogenic	1	1	7	16
MUT:SLC26A4:Asp710Tyr	PROT:O43511	SLC26A4	D	710	Y	D710Y	Pathogenic	1	1	7	7
MUT:SLC26A4:Asp716Val	PROT:O43511	SLC26A4	D	716	V	D716V	Likely pathogenic	1	1	7	1
MUT:SLC26A4:Asp724Gly	PROT:O43511	SLC26A4	D	724	G	D724G	Pathogenic/Likely pathogenic	1	4	7	7
MUT:SLC26A4:Asp87Tyr	PROT:O43511	SLC26A4	D	87	Y	D87Y	Pathogenic/Likely pathogenic	1	1	7	50
MUT:SLC26A4:Cys282Arg	PROT:O43511	SLC26A4	C	282	R	C282R	Likely pathogenic	1	1	7	137
MUT:SLC26A4:Cys282Tyr	PROT:O43511	SLC26A4	C	282	Y	C282Y	Likely pathogenic	1	3	7	137
MUT:SLC26A4:Cys565Gly	PROT:O43511	SLC26A4	C	565	G	C565G	Likely pathogenic	1	1	7	36
MUT:SLC26A4:Cys565Tyr	PROT:O43511	SLC26A4	C	565	Y	C565Y	Likely pathogenic	1	3	7	36
MUT:SLC26A4:Cys662Arg	PROT:O43511	SLC26A4	C	662	R	C662R	Likely pathogenic	1	1	7	19
MUT:SLC26A4:Cys662Tyr	PROT:O43511	SLC26A4	C	662	Y	C662Y	Pathogenic/Likely pathogenic	1	2	7	19
MUT:SLC26A4:Cys706Arg	PROT:O43511	SLC26A4	C	706	R	C706R	Pathogenic	1	1	7	11
MUT:SLC26A4:Gln383Glu	PROT:O43511	SLC26A4	Q	383	E	Q383E	Likely pathogenic	1	1	7	65
MUT:SLC26A4:Gln413Arg	PROT:O43511	SLC26A4	Q	413	R	Q413R	Pathogenic/Likely pathogenic	1	3	7	35
MUT:SLC26A4:Gln421Leu	PROT:O43511	SLC26A4	Q	421	L	Q421L	Pathogenic	1	1	7	27
MUT:SLC26A4:Gln421Pro	PROT:O43511	SLC26A4	Q	421	P	Q421P	Pathogenic/Likely pathogenic	1	2	7	27
MUT:SLC26A4:Gln446Arg	PROT:O43511	SLC26A4	Q	446	R	Q446R	Pathogenic/Likely pathogenic	1	3	7	2
MUT:SLC26A4:Gln514Arg	PROT:O43511	SLC26A4	Q	514	R	Q514R	Pathogenic	1	4	7	12
MUT:SLC26A4:Gln514His	PROT:O43511	SLC26A4	Q	514	H	Q514H	Likely pathogenic	1	1	7	12
MUT:SLC26A4:Gln514Leu	PROT:O43511	SLC26A4	Q	514	L	Q514L	Likely pathogenic	1	1	7	12
MUT:SLC26A4:Gln514Lys	PROT:O43511	SLC26A4	Q	514	K	Q514K	Pathogenic	1	2	7	12
MUT:SLC26A4:Gln514Pro	PROT:O43511	SLC26A4	Q	514	P	Q514P	Likely pathogenic	1	1	7	12
MUT:SLC26A4:Gln730His	PROT:O43511	SLC26A4	Q	730	H	Q730H	Benign/Likely benign	0	2	7	13
MUT:SLC26A4:Glu29Gln	PROT:O43511	SLC26A4	E	29	Q	E29Q	Pathogenic/Likely pathogenic	1	7	7	108
MUT:SLC26A4:Glu29Lys	PROT:O43511	SLC26A4	E	29	K	E29K	Likely pathogenic	1	1	7	108
MUT:SLC26A4:Glu384Gln	PROT:O43511	SLC26A4	E	384	Q	E384Q	Pathogenic/Likely pathogenic	1	2	7	64
MUT:SLC26A4:Glu384Gly	PROT:O43511	SLC26A4	E	384	G	E384G	Pathogenic/Likely pathogenic	1	5	7	64
MUT:SLC26A4:Gly102Arg	PROT:O43511	SLC26A4	G	102	R	G102R	Pathogenic/Likely pathogenic	1	2	7	35
MUT:SLC26A4:Gly102Glu	PROT:O43511	SLC26A4	G	102	E	G102E	Likely pathogenic	1	1	7	35
MUT:SLC26A4:Gly116Ser	PROT:O43511	SLC26A4	G	116	S	G116S	Likely pathogenic	1	2	7	21
MUT:SLC26A4:Gly116Val	PROT:O43511	SLC26A4	G	116	V	G116V	Likely pathogenic	1	3	7	21
MUT:SLC26A4:Gly131Ala	PROT:O43511	SLC26A4	G	131	A	G131A	Likely pathogenic	1	1	7	6
MUT:SLC26A4:Gly139Ala	PROT:O43511	SLC26A4	G	139	A	G139A	Likely pathogenic	1	2	7	2
MUT:SLC26A4:Gly139Val	PROT:O43511	SLC26A4	G	139	V	G139V	Pathogenic/Likely pathogenic	1	4	7	2
MUT:SLC26A4:Gly197Arg	PROT:O43511	SLC26A4	G	197	R	G197R	Pathogenic	1	3	7	52
MUT:SLC26A4:Gly209Glu	PROT:O43511	SLC26A4	G	209	E	G209E	Pathogenic/Likely pathogenic	1	1	7	64
MUT:SLC26A4:Gly209Val	PROT:O43511	SLC26A4	G	209	V	G209V	Pathogenic/Likely pathogenic	1	7	7	64
MUT:SLC26A4:Gly222Ser	PROT:O43511	SLC26A4	G	222	S	G222S	Pathogenic	1	1	7	77
MUT:SLC26A4:Gly334Glu	PROT:O43511	SLC26A4	G	334	E	G334E	Pathogenic/Likely pathogenic	1	1	7	114
MUT:SLC26A4:Gly334Val	PROT:O43511	SLC26A4	G	334	V	G334V	Pathogenic/Likely pathogenic	1	3	7	114
MUT:SLC26A4:Gly368Arg	PROT:O43511	SLC26A4	G	368	R	G368R	Pathogenic	1	1	7	80
MUT:SLC26A4:Gly381Arg	PROT:O43511	SLC26A4	G	381	R	G381R	Pathogenic	1	1	7	67
MUT:SLC26A4:Gly389Arg	PROT:O43511	SLC26A4	G	389	R	G389R	Likely pathogenic	1	1	7	59
MUT:SLC26A4:Gly424Asp	PROT:O43511	SLC26A4	G	424	D	G424D	Pathogenic/Likely pathogenic	1	1	7	24
MUT:SLC26A4:Gly439Arg	PROT:O43511	SLC26A4	G	439	R	G439R	Likely pathogenic	1	2	7	9
MUT:SLC26A4:Gly497Arg	PROT:O43511	SLC26A4	G	497	R	G497R	Likely pathogenic	1	1	7	29
MUT:SLC26A4:Gly497Ser	PROT:O43511	SLC26A4	G	497	S	G497S	Pathogenic	1	5	7	29
MUT:SLC26A4:Gly557Val	PROT:O43511	SLC26A4	G	557	V	G557V	Likely pathogenic	1	1	7	31
MUT:SLC26A4:Gly672Glu	PROT:O43511	SLC26A4	G	672	E	G672E	Pathogenic/Likely pathogenic	1	5	7	9
MUT:SLC26A4:Gly740Ser	PROT:O43511	SLC26A4	G	740	S	G740S	Benign/Likely benign	0	2	7	23
MUT:SLC26A4:Gly95Glu	PROT:O43511	SLC26A4	G	95	E	G95E	Pathogenic/Likely pathogenic	1	1	7	42
MUT:SLC26A4:His135Pro	PROT:O43511	SLC26A4	H	135	P	H135P	Likely pathogenic	1	1	7	2
MUT:SLC26A4:His36Pro	PROT:O43511	SLC26A4	H	36	P	H36P	Likely pathogenic	1	1	7	101
MUT:SLC26A4:His723Asp	PROT:O43511	SLC26A4	H	723	D	H723D	Pathogenic	1	2	7	6
MUT:SLC26A4:Ile188Thr	PROT:O43511	SLC26A4	I	188	T	I188T	Pathogenic/Likely pathogenic	1	2	7	43
MUT:SLC26A4:Ile253Val	PROT:O43511	SLC26A4	I	253	V	I253V	Likely benign	0	1	7	108
MUT:SLC26A4:Ile300Leu	PROT:O43511	SLC26A4	I	300	L	I300L	Benign/Likely benign	0	2	7	148
MUT:SLC26A4:Ile363Leu	PROT:O43511	SLC26A4	I	363	L	I363L	Pathogenic	1	1	7	85
MUT:SLC26A4:Ile455Phe	PROT:O43511	SLC26A4	I	455	F	I455F	Benign	0	3	7	7
MUT:SLC26A4:Ile529Ser	PROT:O43511	SLC26A4	I	529	S	I529S	Pathogenic/Likely pathogenic	1	2	7	3
MUT:SLC26A4:Ile529Thr	PROT:O43511	SLC26A4	I	529	T	I529T	Likely pathogenic	1	1	7	3
MUT:SLC26A4:Ile539Val	PROT:O43511	SLC26A4	I	539	V	I539V	Likely pathogenic	1	1	7	13
MUT:SLC26A4:Ile655Val	PROT:O43511	SLC26A4	I	655	V	I655V	Likely pathogenic	1	4	7	26
MUT:SLC26A4:Ile713Met	PROT:O43511	SLC26A4	I	713	M	I713M	Benign/Likely benign	0	2	7	4
MUT:SLC26A4:Leu117Phe	PROT:O43511	SLC26A4	L	117	F	L117F	Pathogenic	1	4	7	20
MUT:SLC26A4:Leu195Pro	PROT:O43511	SLC26A4	L	195	P	L195P	Likely pathogenic	1	1	7	50
MUT:SLC26A4:Leu236Pro	PROT:O43511	SLC26A4	L	236	P	L236P	Pathogenic/Likely pathogenic	1	6	7	91
MUT:SLC26A4:Leu236Val	PROT:O43511	SLC26A4	L	236	V	L236V	Pathogenic	1	5	7	91
MUT:SLC26A4:Leu442Pro	PROT:O43511	SLC26A4	L	442	P	L442P	Likely pathogenic	1	1	7	6
MUT:SLC26A4:Leu445Phe	PROT:O43511	SLC26A4	L	445	F	L445F	Likely pathogenic	1	1	7	3
MUT:SLC26A4:Leu445Trp	PROT:O43511	SLC26A4	L	445	W	L445W	Pathogenic	1	4	7	3
MUT:SLC26A4:Leu660His	PROT:O43511	SLC26A4	L	660	H	L660H	Likely pathogenic	1	1	7	21
MUT:SLC26A4:Leu668Pro	PROT:O43511	SLC26A4	L	668	P	L668P	Pathogenic/Likely pathogenic	1	1	7	13
MUT:SLC26A4:Leu676Gln	PROT:O43511	SLC26A4	L	676	Q	L676Q	Pathogenic/Likely pathogenic	1	3	7	5
MUT:SLC26A4:Leu68Pro	PROT:O43511	SLC26A4	L	68	P	L68P	Likely pathogenic	1	2	7	69
MUT:SLC26A4:Leu703Pro	PROT:O43511	SLC26A4	L	703	P	L703P	Pathogenic/Likely pathogenic	1	2	7	14
MUT:SLC26A4:Leu703Val	PROT:O43511	SLC26A4	L	703	V	L703V	Likely pathogenic	1	2	7	14
MUT:SLC26A4:Leu729Pro	PROT:O43511	SLC26A4	L	729	P	L729P	Pathogenic/Likely pathogenic	1	2	7	12
MUT:SLC26A4:Lys531Gln	PROT:O43511	SLC26A4	K	531	Q	K531Q	Pathogenic	1	1	7	5
MUT:SLC26A4:Lys715Asn	PROT:O43511	SLC26A4	K	715	N	K715N	Likely pathogenic	1	5	7	2
MUT:SLC26A4:Lys77Ile	PROT:O43511	SLC26A4	K	77	I	K77I	Likely pathogenic	1	1	7	60
MUT:SLC26A4:Met147Thr	PROT:O43511	SLC26A4	M	147	T	M147T	Pathogenic/Likely pathogenic	1	2	7	2
MUT:SLC26A4:Met147Val	PROT:O43511	SLC26A4	M	147	V	M147V	Pathogenic	1	2	7	2
MUT:SLC26A4:Met1Arg	PROT:O43511	SLC26A4	M	1	R	M1R	Pathogenic/Likely pathogenic	1	1	7	136
MUT:SLC26A4:Met1Ile	PROT:O43511	SLC26A4	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	7	136
MUT:SLC26A4:Met1Leu	PROT:O43511	SLC26A4	M	1	L	M1L	Likely pathogenic	1	1	7	136
MUT:SLC26A4:Met1Thr	PROT:O43511	SLC26A4	M	1	T	M1T	Pathogenic	1	5	7	136
MUT:SLC26A4:Met283Ile	PROT:O43511	SLC26A4	M	283	I	M283I	Benign/Likely benign	0	2	7	138
MUT:SLC26A4:Phe141Leu	PROT:O43511	SLC26A4	F	141	L	F141L	Pathogenic	1	1	7	4
MUT:SLC26A4:Phe141Ser	PROT:O43511	SLC26A4	F	141	S	F141S	Pathogenic/Likely pathogenic	1	1	7	4
MUT:SLC26A4:Phe223Ser	PROT:O43511	SLC26A4	F	223	S	F223S	Pathogenic	1	1	7	78
MUT:SLC26A4:Phe32Leu	PROT:O43511	SLC26A4	F	32	L	F32L	Likely pathogenic	1	1	7	105
MUT:SLC26A4:Phe335Leu	PROT:O43511	SLC26A4	F	335	L	F335L	Likely pathogenic	1	5	7	113
MUT:SLC26A4:Phe335Val	PROT:O43511	SLC26A4	F	335	V	F335V	Likely pathogenic	1	2	7	113
MUT:SLC26A4:Phe354Ser	PROT:O43511	SLC26A4	F	354	S	F354S	Likely benign	0	4	7	94
MUT:SLC26A4:Phe515Leu	PROT:O43511	SLC26A4	F	515	L	F515L	Pathogenic/Likely pathogenic	1	1	7	11
MUT:SLC26A4:Phe572Leu	PROT:O43511	SLC26A4	F	572	L	F572L	Likely pathogenic	1	2	7	29
MUT:SLC26A4:Phe62Leu	PROT:O43511	SLC26A4	F	62	L	F62L	Likely benign	0	1	7	75
MUT:SLC26A4:Phe667Cys	PROT:O43511	SLC26A4	F	667	C	F667C	Pathogenic	1	1	7	14
MUT:SLC26A4:Phe683Ser	PROT:O43511	SLC26A4	F	683	S	F683S	Pathogenic/Likely pathogenic	1	2	7	2
MUT:SLC26A4:Phe692Leu	PROT:O43511	SLC26A4	F	692	L	F692L	Pathogenic	1	1	7	11
MUT:SLC26A4:Pro112Leu	PROT:O43511	SLC26A4	P	112	L	P112L	Likely pathogenic	1	1	7	25
MUT:SLC26A4:Pro112Ser	PROT:O43511	SLC26A4	P	112	S	P112S	Pathogenic/Likely pathogenic	1	2	7	25
MUT:SLC26A4:Pro123Ser	PROT:O43511	SLC26A4	P	123	S	P123S	Pathogenic/Likely pathogenic	1	2	7	14
MUT:SLC26A4:Pro140His	PROT:O43511	SLC26A4	P	140	H	P140H	Likely pathogenic	1	1	7	3
MUT:SLC26A4:Pro516Ala	PROT:O43511	SLC26A4	P	516	A	P516A	Likely pathogenic	1	1	7	10
MUT:SLC26A4:Pro70Ser	PROT:O43511	SLC26A4	P	70	S	P70S	Likely pathogenic	1	1	7	67
MUT:SLC26A4:Pro76Leu	PROT:O43511	SLC26A4	P	76	L	P76L	Pathogenic	1	1	7	61
MUT:SLC26A4:Pro76Ser	PROT:O43511	SLC26A4	P	76	S	P76S	Pathogenic	1	1	7	61
MUT:SLC26A4:Ser133Pro	PROT:O43511	SLC26A4	S	133	P	S133P	Pathogenic/Likely pathogenic	1	1	7	4
MUT:SLC26A4:Ser133Thr	PROT:O43511	SLC26A4	S	133	T	S133T	Pathogenic/Likely pathogenic	1	2	7	4
MUT:SLC26A4:Ser252Pro	PROT:O43511	SLC26A4	S	252	P	S252P	Pathogenic/Likely pathogenic	1	2	7	107
MUT:SLC26A4:Ser28Arg	PROT:O43511	SLC26A4	S	28	R	S28R	Pathogenic/Likely pathogenic	1	2	7	109
MUT:SLC26A4:Ser28Gly	PROT:O43511	SLC26A4	S	28	G	S28G	Pathogenic	1	1	7	109
MUT:SLC26A4:Ser391Arg	PROT:O43511	SLC26A4	S	391	R	S391R	Pathogenic	1	1	7	57
MUT:SLC26A4:Ser391Asn	PROT:O43511	SLC26A4	S	391	N	S391N	Likely pathogenic	1	1	7	57
MUT:SLC26A4:Ser427Pro	PROT:O43511	SLC26A4	S	427	P	S427P	Pathogenic	1	1	7	21
MUT:SLC26A4:Ser427Tyr	PROT:O43511	SLC26A4	S	427	Y	S427Y	Likely pathogenic	1	1	7	21
MUT:SLC26A4:Ser448Leu	PROT:O43511	SLC26A4	S	448	L	S448L	Pathogenic	1	2	7	0
MUT:SLC26A4:Ser448Trp	PROT:O43511	SLC26A4	S	448	W	S448W	Likely pathogenic	1	2	7	0
MUT:SLC26A4:Ser49Arg	PROT:O43511	SLC26A4	S	49	R	S49R	Likely benign	0	2	7	88
MUT:SLC26A4:Ser532Arg	PROT:O43511	SLC26A4	S	532	R	S532R	Pathogenic	1	2	7	6
MUT:SLC26A4:Ser532Ile	PROT:O43511	SLC26A4	S	532	I	S532I	Pathogenic/Likely pathogenic	1	2	7	6
MUT:SLC26A4:Ser552Arg	PROT:O43511	SLC26A4	S	552	R	S552R	Likely pathogenic	1	1	7	26
MUT:SLC26A4:Ser90Leu	PROT:O43511	SLC26A4	S	90	L	S90L	Pathogenic/Likely pathogenic	1	2	7	47
MUT:SLC26A4:Ser93Arg	PROT:O43511	SLC26A4	S	93	R	S93R	Pathogenic/Likely pathogenic	1	2	7	44
MUT:SLC26A4:Thr132Ile	PROT:O43511	SLC26A4	T	132	I	T132I	Likely pathogenic	1	1	7	5
MUT:SLC26A4:Thr183Ala	PROT:O43511	SLC26A4	T	183	A	T183A	Likely benign	0	1	7	38
MUT:SLC26A4:Thr193Ile	PROT:O43511	SLC26A4	T	193	I	T193I	Pathogenic/Likely pathogenic	1	3	7	48
MUT:SLC26A4:Thr410Lys	PROT:O43511	SLC26A4	T	410	K	T410K	Pathogenic/Likely pathogenic	1	1	7	38
MUT:SLC26A4:Thr410Met	PROT:O43511	SLC26A4	T	410	M	T410M	Pathogenic	1	5	7	38
MUT:SLC26A4:Thr410Pro	PROT:O43511	SLC26A4	T	410	P	T410P	Likely pathogenic	1	1	7	38
MUT:SLC26A4:Thr416Pro	PROT:O43511	SLC26A4	T	416	P	T416P	Pathogenic	1	5	7	32
MUT:SLC26A4:Thr420Ile	PROT:O43511	SLC26A4	T	420	I	T420I	Likely pathogenic	1	1	7	28
MUT:SLC26A4:Thr485Arg	PROT:O43511	SLC26A4	T	485	R	T485R	Likely pathogenic	1	1	7	37
MUT:SLC26A4:Thr508Ala	PROT:O43511	SLC26A4	T	508	A	T508A	Pathogenic/Likely pathogenic	1	3	7	18
MUT:SLC26A4:Thr527Pro	PROT:O43511	SLC26A4	T	527	P	T527P	Pathogenic/Likely pathogenic	1	2	7	1
MUT:SLC26A4:Thr67Pro	PROT:O43511	SLC26A4	T	67	P	T67P	Benign	0	1	7	70
MUT:SLC26A4:Thr67Ser	PROT:O43511	SLC26A4	T	67	S	T67S	Likely benign	0	2	7	70
MUT:SLC26A4:Thr717Ile	PROT:O43511	SLC26A4	T	717	I	T717I	Likely benign	0	1	7	0
MUT:SLC26A4:Thr721Ala	PROT:O43511	SLC26A4	T	721	A	T721A	Likely pathogenic	1	1	7	4
MUT:SLC26A4:Thr721Lys	PROT:O43511	SLC26A4	T	721	K	T721K	Likely pathogenic	1	1	7	4
MUT:SLC26A4:Thr721Met	PROT:O43511	SLC26A4	T	721	M	T721M	Pathogenic/Likely pathogenic	1	3	7	4
MUT:SLC26A4:Thr94Ile	PROT:O43511	SLC26A4	T	94	I	T94I	Pathogenic	1	2	7	43
MUT:SLC26A4:Thr99Arg	PROT:O43511	SLC26A4	T	99	R	T99R	Likely pathogenic	1	1	7	38
MUT:SLC26A4:Trp518Arg	PROT:O43511	SLC26A4	W	518	R	W518R	Likely pathogenic	1	1	7	8
MUT:SLC26A4:Trp518Gly	PROT:O43511	SLC26A4	W	518	G	W518G	Likely pathogenic	1	1	7	8
MUT:SLC26A4:Tyr214Cys	PROT:O43511	SLC26A4	Y	214	C	Y214C	Pathogenic/Likely pathogenic	1	3	7	69
MUT:SLC26A4:Tyr27Asp	PROT:O43511	SLC26A4	Y	27	D	Y27D	Likely pathogenic	1	1	7	110
MUT:SLC26A4:Tyr27His	PROT:O43511	SLC26A4	Y	27	H	Y27H	Pathogenic	1	1	7	110
MUT:SLC26A4:Tyr530His	PROT:O43511	SLC26A4	Y	530	H	Y530H	Pathogenic/Likely pathogenic	1	3	7	4
MUT:SLC26A4:Tyr530Ser	PROT:O43511	SLC26A4	Y	530	S	Y530S	Likely pathogenic	1	2	7	4
MUT:SLC26A4:Tyr536Asn	PROT:O43511	SLC26A4	Y	536	N	Y536N	Likely pathogenic	1	1	7	10
MUT:SLC26A4:Tyr556Cys	PROT:O43511	SLC26A4	Y	556	C	Y556C	Pathogenic/Likely pathogenic	1	2	7	30
MUT:SLC26A4:Tyr78Cys	PROT:O43511	SLC26A4	Y	78	C	Y78C	Pathogenic/Likely pathogenic	1	1	7	59
MUT:SLC26A4:Val138Asp	PROT:O43511	SLC26A4	V	138	D	V138D	Likely pathogenic	1	1	7	1
MUT:SLC26A4:Val138Leu	PROT:O43511	SLC26A4	V	138	L	V138L	Pathogenic/Likely pathogenic	1	2	7	1
MUT:SLC26A4:Val138Phe	PROT:O43511	SLC26A4	V	138	F	V138F	Pathogenic	1	5	7	1
MUT:SLC26A4:Val231Glu	PROT:O43511	SLC26A4	V	231	E	V231E	Likely pathogenic	1	1	7	86
MUT:SLC26A4:Val239Asp	PROT:O43511	SLC26A4	V	239	D	V239D	Pathogenic	1	6	7	94
MUT:SLC26A4:Val328Asp	PROT:O43511	SLC26A4	V	328	D	V328D	Pathogenic	1	1	7	120
MUT:SLC26A4:Val402Leu	PROT:O43511	SLC26A4	V	402	L	V402L	Likely pathogenic	1	1	7	46
MUT:SLC26A4:Val402Met	PROT:O43511	SLC26A4	V	402	M	V402M	Pathogenic	1	3	7	46
MUT:SLC26A4:Val422Ile	PROT:O43511	SLC26A4	V	422	I	V422I	Likely pathogenic	1	2	7	26
MUT:SLC26A4:Val510Asp	PROT:O43511	SLC26A4	V	510	D	V510D	Likely pathogenic	1	1	7	16
MUT:SLC26A4:Val570Ile	PROT:O43511	SLC26A4	V	570	I	V570I	Likely pathogenic	1	3	7	31
MUT:SLC26A4:Val570Phe	PROT:O43511	SLC26A4	V	570	F	V570F	Likely pathogenic	1	1	7	31
MUT:SLC26A4:Val577Gly	PROT:O43511	SLC26A4	V	577	G	V577G	Likely pathogenic	1	1	7	24
MUT:SLC26A4:Val609Gly	PROT:O43511	SLC26A4	V	609	G	V609G	Benign/Likely benign	0	2	7	8
MUT:SLC26A4:Val650Asp	PROT:O43511	SLC26A4	V	650	D	V650D	Likely pathogenic	1	1	7	31
MUT:SLC26A4:Val659Leu	PROT:O43511	SLC26A4	V	659	L	V659L	Pathogenic	1	2	7	22
MUT:SLC26A4:Val690Glu	PROT:O43511	SLC26A4	V	690	E	V690E	Likely pathogenic	1	2	7	9
MUT:SLC26A4:Val722Phe	PROT:O43511	SLC26A4	V	722	F	V722F	Likely pathogenic	1	1	7	5
MUT:SLC26A8:Arg87Gln	PROT:Q96RN1	SLC26A8	R	87	Q	R87Q	Pathogenic	1	1	3	616
MUT:SLC26A8:Asn965Ser	PROT:Q96RN1	SLC26A8	N	965	S	N965S	Likely benign	0	1	3	145
MUT:SLC26A8:Ile498Val	PROT:Q96RN1	SLC26A8	I	498	V	I498V	Likely benign	0	1	3	205
MUT:SLC26A8:Leu97Pro	PROT:Q96RN1	SLC26A8	L	97	P	L97P	Pathogenic	1	1	3	606
MUT:SLC26A8:Val734Met	PROT:Q96RN1	SLC26A8	V	734	M	V734M	Likely benign	0	1	3	31
MUT:SLC28A1:Ala190Ser	PROT:O00337	SLC28A1	A	190	S	A190S	Benign	0	1	2	177
MUT:SLC28A1:Arg147His	PROT:O00337	SLC28A1	R	147	H	R147H	Likely benign	0	1	2	134
MUT:SLC28A1:Asp521Asn	PROT:O00337	SLC28A1	D	521	N	D521N	Benign	0	1	2	508
MUT:SLC28A1:Gln237Lys	PROT:O00337	SLC28A1	Q	237	K	Q237K	Benign	0	1	2	224
MUT:SLC28A1:Ser43Asn	PROT:O00337	SLC28A1	S	43	N	S43N	Benign	0	1	2	30
MUT:SLC28A1:Ser546Pro	PROT:O00337	SLC28A1	S	546	P	S546P	Benign	0	2	2	533
MUT:SLC28A1:Val189Ile	PROT:O00337	SLC28A1	V	189	I	V189I	Benign	0	1	2	176
MUT:SLC28A1:Val279Ile	PROT:O00337	SLC28A1	V	279	I	V279I	Likely benign	0	1	2	266
MUT:SLC2A10:Ala106Ser	PROT:O95528	SLC2A10	A	106	S	A106S	Benign/Likely benign	0	2	5	102
MUT:SLC2A10:Ala206Thr	PROT:O95528	SLC2A10	A	206	T	A206T	Benign/Likely benign	0	2	5	2
MUT:SLC2A10:Ala294Val	PROT:O95528	SLC2A10	A	294	V	A294V	Likely benign	0	1	5	77
MUT:SLC2A10:Ala371Val	PROT:O95528	SLC2A10	A	371	V	A371V	Likely benign	0	1	5	147
MUT:SLC2A10:Ala385Gly	PROT:O95528	SLC2A10	A	385	G	A385G	Benign	0	2	5	133
MUT:SLC2A10:Ala412Thr	PROT:O95528	SLC2A10	A	412	T	A412T	Likely benign	0	2	5	106
MUT:SLC2A10:Arg105Cys	PROT:O95528	SLC2A10	R	105	C	R105C	Pathogenic/Likely pathogenic	1	3	5	103
MUT:SLC2A10:Arg132Leu	PROT:O95528	SLC2A10	R	132	L	R132L	Likely pathogenic	1	1	5	76
MUT:SLC2A10:Arg132Trp	PROT:O95528	SLC2A10	R	132	W	R132W	Pathogenic/Likely pathogenic	1	2	5	76
MUT:SLC2A10:Arg225His	PROT:O95528	SLC2A10	R	225	H	R225H	Benign/Likely benign	0	2	5	8
MUT:SLC2A10:Arg231Gln	PROT:O95528	SLC2A10	R	231	Q	R231Q	Pathogenic	1	1	5	14
MUT:SLC2A10:Arg231Trp	PROT:O95528	SLC2A10	R	231	W	R231W	Pathogenic/Likely pathogenic	1	2	5	14
MUT:SLC2A10:Arg364Gly	PROT:O95528	SLC2A10	R	364	G	R364G	Likely benign	0	1	5	147
MUT:SLC2A10:Cys304Trp	PROT:O95528	SLC2A10	C	304	W	C304W	Pathogenic	1	1	5	87
MUT:SLC2A10:Gln243Lys	PROT:O95528	SLC2A10	Q	243	K	Q243K	Likely pathogenic	1	1	5	26
MUT:SLC2A10:Glu437Lys	PROT:O95528	SLC2A10	E	437	K	E437K	Pathogenic/Likely pathogenic	1	3	5	81
MUT:SLC2A10:Gly23Asp	PROT:O95528	SLC2A10	G	23	D	G23D	Likely pathogenic	1	1	5	185
MUT:SLC2A10:Gly23Val	PROT:O95528	SLC2A10	G	23	V	G23V	Likely pathogenic	1	1	5	185
MUT:SLC2A10:Gly346Arg	PROT:O95528	SLC2A10	G	346	R	G346R	Likely benign	0	2	5	129
MUT:SLC2A10:Gly426Trp	PROT:O95528	SLC2A10	G	426	W	G426W	Pathogenic/Likely pathogenic	1	2	5	92
MUT:SLC2A10:Gly445Glu	PROT:O95528	SLC2A10	G	445	E	G445E	Likely pathogenic	1	1	5	73
MUT:SLC2A10:His405Gln	PROT:O95528	SLC2A10	H	405	Q	H405Q	Likely benign	0	1	5	113
MUT:SLC2A10:Ile356Thr	PROT:O95528	SLC2A10	I	356	T	I356T	Likely benign	0	1	5	139
MUT:SLC2A10:Ile367Val	PROT:O95528	SLC2A10	I	367	V	I367V	Likely benign	0	1	5	150
MUT:SLC2A10:Ile537Val	PROT:O95528	SLC2A10	I	537	V	I537V	Benign	0	2	5	9
MUT:SLC2A10:Leu300Trp	PROT:O95528	SLC2A10	L	300	W	L300W	Pathogenic/Likely pathogenic	1	2	5	83
MUT:SLC2A10:Lys514Arg	PROT:O95528	SLC2A10	K	514	R	K514R	Benign	0	2	5	4
MUT:SLC2A10:Met1Leu	PROT:O95528	SLC2A10	M	1	L	M1L	Pathogenic/Likely pathogenic	1	2	5	207
MUT:SLC2A10:Pro214Leu	PROT:O95528	SLC2A10	P	214	L	P214L	Likely benign	0	1	5	3
MUT:SLC2A10:Pro531Leu	PROT:O95528	SLC2A10	P	531	L	P531L	Likely benign	0	1	5	3
MUT:SLC2A10:Ser520Asn	PROT:O95528	SLC2A10	S	520	N	S520N	Benign/Likely benign	0	3	5	2
MUT:SLC2A10:Ser81Arg	PROT:O95528	SLC2A10	S	81	R	S81R	Pathogenic/Likely pathogenic	1	3	5	127
MUT:SLC2A10:Thr194Ile	PROT:O95528	SLC2A10	T	194	I	T194I	Likely benign	0	2	5	14
MUT:SLC2A10:Thr518Ala	PROT:O95528	SLC2A10	T	518	A	T518A	Benign	0	2	5	0
MUT:SLC2A10:Val176Leu	PROT:O95528	SLC2A10	V	176	L	V176L	Likely benign	0	1	5	32
MUT:SLC2A4:Ala358Val	PROT:P14672	SLC2A4	A	358	V	A358V	Likely benign	0	8	3	84
MUT:SLC31A1:Arg95His	PROT:O15431	SLC31A1	R	95	H	R95H	Pathogenic	1	1	1	1
MUT:SLC31A1:Leu79Pro	PROT:O15431	SLC31A1	L	79	P	L79P	Likely pathogenic	1	1	1	17
MUT:SLC32A1:Leu269Gln	PROT:Q9H598	SLC32A1	L	269	Q	L269Q	Pathogenic	1	1	2	171
MUT:SLC32A1:Leu468Pro	PROT:Q9H598	SLC32A1	L	468	P	L468P	Pathogenic/Likely pathogenic	1	2	2	370
MUT:SLC32A1:Met330Thr	PROT:Q9H598	SLC32A1	M	330	T	M330T	Pathogenic/Likely pathogenic	1	2	2	232
MUT:SLC32A1:Phe322Cys	PROT:Q9H598	SLC32A1	F	322	C	F322C	Likely pathogenic	1	1	2	224
MUT:SLC34A2:Asp634Gly	PROT:O95436	SLC34A2	D	634	G	D634G	Benign	0	1	3	35
MUT:SLC34A2:Cys687Ser	PROT:O95436	SLC34A2	C	687	S	C687S	Likely benign	0	1	3	18
MUT:SLC34A2:Gly106Arg	PROT:O95436	SLC34A2	G	106	R	G106R	Likely pathogenic	1	1	3	3
MUT:SLC34A2:Ile48Phe	PROT:O95436	SLC34A2	I	48	F	I48F	Likely benign	0	1	3	6
MUT:SLC34A2:Leu371Ile	PROT:O95436	SLC34A2	L	371	I	L371I	Likely benign	0	1	3	262
MUT:SLC34A2:Leu414Phe	PROT:O95436	SLC34A2	L	414	F	L414F	Benign/Likely benign	0	2	3	255
MUT:SLC34A2:Lys281Glu	PROT:O95436	SLC34A2	K	281	E	K281E	Benign/Likely benign	0	2	3	172
MUT:SLC34A3:Ala227Thr	PROT:Q8N130	SLC34A3	A	227	T	A227T	Benign/Likely benign	0	1	2	92
MUT:SLC34A3:Ala413Glu	PROT:Q8N130	SLC34A3	A	413	E	A413E	Pathogenic/Likely pathogenic	1	1	2	278
MUT:SLC34A3:Arg468Trp	PROT:Q8N130	SLC34A3	R	468	W	R468W	Pathogenic/Likely pathogenic	1	2	2	333
MUT:SLC34A3:Arg537His	PROT:Q8N130	SLC34A3	R	537	H	R537H	Likely benign	0	1	2	402
MUT:SLC34A3:Asp237Asn	PROT:Q8N130	SLC34A3	D	237	N	D237N	Benign/Likely benign	0	2	2	102
MUT:SLC34A3:Glu513Val	PROT:Q8N130	SLC34A3	E	513	V	E513V	Benign	0	1	2	378
MUT:SLC34A3:Gly180Ala	PROT:Q8N130	SLC34A3	G	180	A	G180A	Benign/Likely benign	0	1	2	45
MUT:SLC34A3:Gly196Arg	PROT:Q8N130	SLC34A3	G	196	R	G196R	Pathogenic/Likely pathogenic	1	1	2	61
MUT:SLC34A3:Gly337Ser	PROT:Q8N130	SLC34A3	G	337	S	G337S	Benign	0	3	2	202
MUT:SLC34A3:Gly375Ser	PROT:Q8N130	SLC34A3	G	375	S	G375S	Likely benign	0	1	2	240
MUT:SLC34A3:Gly404Arg	PROT:Q8N130	SLC34A3	G	404	R	G404R	Likely pathogenic	1	1	2	269
MUT:SLC34A3:Gly406Val	PROT:Q8N130	SLC34A3	G	406	V	G406V	Pathogenic	1	1	2	271
MUT:SLC34A3:Gly419Asp	PROT:Q8N130	SLC34A3	G	419	D	G419D	Likely pathogenic	1	1	2	284
MUT:SLC34A3:Gly457Ser	PROT:Q8N130	SLC34A3	G	457	S	G457S	Pathogenic	1	1	2	322
MUT:SLC34A3:Ile197Val	PROT:Q8N130	SLC34A3	I	197	V	I197V	Likely pathogenic	1	1	2	62
MUT:SLC34A3:Ile593Met	PROT:Q8N130	SLC34A3	I	593	M	I593M	Benign	0	1	2	458
MUT:SLC34A3:Lys23Arg	PROT:Q8N130	SLC34A3	K	23	R	K23R	Likely benign	0	1	2	19
MUT:SLC34A3:Met1Ile	PROT:Q8N130	SLC34A3	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	2	3
MUT:SLC34A3:Met1Thr	PROT:Q8N130	SLC34A3	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	2	3
MUT:SLC34A3:Met259Thr	PROT:Q8N130	SLC34A3	M	259	T	M259T	Likely benign	0	1	2	124
MUT:SLC34A3:Pro369Leu	PROT:Q8N130	SLC34A3	P	369	L	P369L	Likely pathogenic	1	1	2	234
MUT:SLC34A3:Ser171Arg	PROT:Q8N130	SLC34A3	S	171	R	S171R	Likely pathogenic	1	1	2	36
MUT:SLC34A3:Ser192Leu	PROT:Q8N130	SLC34A3	S	192	L	S192L	Pathogenic/Likely pathogenic	1	3	2	57
MUT:SLC34A3:Ser192Trp	PROT:Q8N130	SLC34A3	S	192	W	S192W	Pathogenic	1	1	2	57
MUT:SLC34A3:Ser260Asn	PROT:Q8N130	SLC34A3	S	260	N	S260N	Benign/Likely benign	0	1	2	125
MUT:SLC34A3:Thr279Met	PROT:Q8N130	SLC34A3	T	279	M	T279M	Benign/Likely benign	0	1	2	144
MUT:SLC34A3:Thr296Pro	PROT:Q8N130	SLC34A3	T	296	P	T296P	Likely benign	0	1	2	161
MUT:SLC34A3:Thr425Ile	PROT:Q8N130	SLC34A3	T	425	I	T425I	Likely pathogenic	1	1	2	290
MUT:SLC34A3:Val155Ala	PROT:Q8N130	SLC34A3	V	155	A	V155A	Likely benign	0	1	2	20
MUT:SLC34A3:Val528Ile	PROT:Q8N130	SLC34A3	V	528	I	V528I	Likely benign	0	1	2	393
MUT:SLC35A1:Asn7His	PROT:P78382	SLC35A1	N	7	H	N7H	Benign/Likely benign	0	2	1	79
MUT:SLC35A1:Gln101His	PROT:P78382	SLC35A1	Q	101	H	Q101H	Pathogenic	1	1	1	15
MUT:SLC35A1:Glu171Gly	PROT:P78382	SLC35A1	E	171	G	E171G	Likely benign	0	2	1	85
MUT:SLC35A1:Glu196Lys	PROT:P78382	SLC35A1	E	196	K	E196K	Pathogenic/Likely pathogenic	1	1	1	110
MUT:SLC35A1:Ser147Pro	PROT:P78382	SLC35A1	S	147	P	S147P	Pathogenic	1	1	1	61
MUT:SLC35A1:Thr156Arg	PROT:P78382	SLC35A1	T	156	R	T156R	Pathogenic/Likely pathogenic	1	1	1	70
MUT:SLC35A1:Val146Ile	PROT:P78382	SLC35A1	V	146	I	V146I	Likely benign	0	1	1	60
MUT:SLC35B2:Gly360Arg	PROT:Q8TB61	SLC35B2	G	360	R	G360R	Likely benign	0	1	7	61
MUT:SLC35C1:Ala93Thr	PROT:Q96A29	SLC35C1	A	93	T	A93T	Likely benign	0	1	3	198
MUT:SLC35C1:Arg147Cys	PROT:Q96A29	SLC35C1	R	147	C	R147C	Likely pathogenic	1	1	3	144
MUT:SLC35C1:Asn297Lys	PROT:Q96A29	SLC35C1	N	297	K	N297K	Pathogenic	1	1	3	4
MUT:SLC35C1:His296Arg	PROT:Q96A29	SLC35C1	H	296	R	H296R	Likely pathogenic	1	1	3	5
MUT:SLC35C1:Ile240Val	PROT:Q96A29	SLC35C1	I	240	V	I240V	Benign/Likely benign	0	1	3	51
MUT:SLC35C1:Thr308Arg	PROT:Q96A29	SLC35C1	T	308	R	T308R	Pathogenic	1	1	3	7
MUT:SLC35C1:Val44Met	PROT:Q96A29	SLC35C1	V	44	M	V44M	Likely benign	0	1	3	247
MUT:SLC37A4:Ala148Val	PROT:O43826	SLC37A4	A	148	V	A148V	Pathogenic	1	1	3	4
MUT:SLC37A4:Ala280Pro	PROT:O43826	SLC37A4	A	280	P	A280P	Likely pathogenic	1	1	3	73
MUT:SLC37A4:Arg28Cys	PROT:O43826	SLC37A4	R	28	C	R28C	Pathogenic	1	1	3	115
MUT:SLC37A4:Arg28His	PROT:O43826	SLC37A4	R	28	H	R28H	Pathogenic	1	1	3	115
MUT:SLC37A4:Arg300Cys	PROT:O43826	SLC37A4	R	300	C	R300C	Pathogenic/Likely pathogenic	1	1	3	93
MUT:SLC37A4:Arg300His	PROT:O43826	SLC37A4	R	300	H	R300H	Pathogenic/Likely pathogenic	1	2	3	93
MUT:SLC37A4:Asn198Ile	PROT:O43826	SLC37A4	N	198	I	N198I	Benign/Likely benign	0	1	3	9
MUT:SLC37A4:Cys183Arg	PROT:O43826	SLC37A4	C	183	R	C183R	Pathogenic	1	2	3	24
MUT:SLC37A4:Gly111Asp	PROT:O43826	SLC37A4	G	111	D	G111D	Likely pathogenic	1	1	3	32
MUT:SLC37A4:Gly115Glu	PROT:O43826	SLC37A4	G	115	E	G115E	Likely pathogenic	1	1	3	28
MUT:SLC37A4:Gly122Glu	PROT:O43826	SLC37A4	G	122	E	G122E	Likely pathogenic	1	1	3	21
MUT:SLC37A4:Gly149Glu	PROT:O43826	SLC37A4	G	149	E	G149E	Pathogenic	1	1	3	5
MUT:SLC37A4:Gly150Arg	PROT:O43826	SLC37A4	G	150	R	G150R	Pathogenic/Likely pathogenic	1	1	3	6
MUT:SLC37A4:Gly209Ser	PROT:O43826	SLC37A4	G	209	S	G209S	Pathogenic	1	1	3	2
MUT:SLC37A4:Gly20Asp	PROT:O43826	SLC37A4	G	20	D	G20D	Pathogenic/Likely pathogenic	1	1	3	123
MUT:SLC37A4:Gly339Asp	PROT:O43826	SLC37A4	G	339	D	G339D	Pathogenic/Likely pathogenic	1	1	3	132
MUT:SLC37A4:Gly339Cys	PROT:O43826	SLC37A4	G	339	C	G339C	Pathogenic	1	2	3	132
MUT:SLC37A4:Gly68Arg	PROT:O43826	SLC37A4	G	68	R	G68R	Pathogenic/Likely pathogenic	1	1	3	75
MUT:SLC37A4:Gly83Glu	PROT:O43826	SLC37A4	G	83	E	G83E	Pathogenic/Likely pathogenic	1	1	3	60
MUT:SLC37A4:His301Pro	PROT:O43826	SLC37A4	H	301	P	H301P	Likely pathogenic	1	1	3	94
MUT:SLC37A4:Leu186Pro	PROT:O43826	SLC37A4	L	186	P	L186P	Likely pathogenic	1	1	3	21
MUT:SLC37A4:Leu348Pro	PROT:O43826	SLC37A4	L	348	P	L348P	Likely pathogenic	1	1	3	141
MUT:SLC37A4:Met1Ile	PROT:O43826	SLC37A4	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	3	142
MUT:SLC37A4:Met1Val	PROT:O43826	SLC37A4	M	1	V	M1V	Pathogenic	1	1	3	142
MUT:SLC37A4:Pro153Leu	PROT:O43826	SLC37A4	P	153	L	P153L	Pathogenic/Likely pathogenic	1	1	3	9
MUT:SLC37A4:Pro191Leu	PROT:O43826	SLC37A4	P	191	L	P191L	Pathogenic	1	1	3	16
MUT:SLC37A4:Ser204Phe	PROT:O43826	SLC37A4	S	204	F	S204F	Likely benign	0	2	3	3
MUT:SLC37A4:Ser210Pro	PROT:O43826	SLC37A4	S	210	P	S210P	Likely benign	0	2	3	3
MUT:SLC37A4:Ser263Asn	PROT:O43826	SLC37A4	S	263	N	S263N	Likely pathogenic	1	1	3	56
MUT:SLC37A4:Ser55Arg	PROT:O43826	SLC37A4	S	55	R	S55R	Likely pathogenic	1	1	3	88
MUT:SLC37A4:Trp118Arg	PROT:O43826	SLC37A4	W	118	R	W118R	Pathogenic	1	1	3	25
MUT:SLC37A4:Trp246Arg	PROT:O43826	SLC37A4	W	246	R	W246R	Likely pathogenic	1	1	3	39
MUT:SLC37A4:Tyr24His	PROT:O43826	SLC37A4	Y	24	H	Y24H	Likely pathogenic	1	1	3	119
MUT:SLC38A3:Arg499Gln	PROT:Q99624	SLC38A3	R	499	Q	R499Q	Likely benign	0	1	5	444
MUT:SLC38A3:Asn503Ser	PROT:Q99624	SLC38A3	N	503	S	N503S	Likely benign	0	1	5	448
MUT:SLC38A3:Thr375Pro	PROT:Q99624	SLC38A3	T	375	P	T375P	Pathogenic	1	1	5	320
MUT:SLC38A3:Val267Ile	PROT:Q99624	SLC38A3	V	267	I	V267I	Likely benign	0	1	5	212
MUT:SLC39A4:Ala114Thr	PROT:Q6P5W5	SLC39A4	A	114	T	A114T	Benign	0	1	1	23
MUT:SLC39A4:Ala20Val	PROT:Q6P5W5	SLC39A4	A	20	V	A20V	Likely benign	0	1	1	117
MUT:SLC39A4:Ala341Ser	PROT:Q6P5W5	SLC39A4	A	341	S	A341S	Likely benign	0	1	1	204
MUT:SLC39A4:Ala376Thr	PROT:Q6P5W5	SLC39A4	A	376	T	A376T	Likely benign	0	1	1	239
MUT:SLC39A4:Ala58Thr	PROT:Q6P5W5	SLC39A4	A	58	T	A58T	Benign	0	1	1	79
MUT:SLC39A4:Ala99Thr	PROT:Q6P5W5	SLC39A4	A	99	T	A99T	Pathogenic/Likely pathogenic	1	1	1	38
MUT:SLC39A4:Arg402Cys	PROT:Q6P5W5	SLC39A4	R	402	C	R402C	Likely benign	0	1	1	265
MUT:SLC39A4:Arg95Cys	PROT:Q6P5W5	SLC39A4	R	95	C	R95C	Pathogenic/Likely pathogenic	1	1	1	42
MUT:SLC39A4:Asn106Lys	PROT:Q6P5W5	SLC39A4	N	106	K	N106K	Pathogenic	1	1	1	31
MUT:SLC39A4:Asn421Tyr	PROT:Q6P5W5	SLC39A4	N	421	Y	N421Y	Likely benign	0	1	1	284
MUT:SLC39A4:Asn59Asp	PROT:Q6P5W5	SLC39A4	N	59	D	N59D	Likely benign	0	1	1	78
MUT:SLC39A4:Gln303His	PROT:Q6P5W5	SLC39A4	Q	303	H	Q303H	Pathogenic	1	1	1	166
MUT:SLC39A4:Glu284Lys	PROT:Q6P5W5	SLC39A4	E	284	K	E284K	Benign/Likely benign	0	1	1	147
MUT:SLC39A4:Gly330Asp	PROT:Q6P5W5	SLC39A4	G	330	D	G330D	Pathogenic	1	1	1	193
MUT:SLC39A4:Gly352Ser	PROT:Q6P5W5	SLC39A4	G	352	S	G352S	Likely benign	0	1	1	215
MUT:SLC39A4:Gly374Arg	PROT:Q6P5W5	SLC39A4	G	374	R	G374R	Likely pathogenic	1	1	1	237
MUT:SLC39A4:Gly46Ser	PROT:Q6P5W5	SLC39A4	G	46	S	G46S	Likely benign	0	1	1	91
MUT:SLC39A4:Gly526Arg	PROT:Q6P5W5	SLC39A4	G	526	R	G526R	Pathogenic	1	1	1	389
MUT:SLC39A4:Gly630Arg	PROT:Q6P5W5	SLC39A4	G	630	R	G630R	Likely pathogenic	1	1	1	493
MUT:SLC39A4:Met1Thr	PROT:Q6P5W5	SLC39A4	M	1	T	M1T	Likely pathogenic	1	1	1	136
MUT:SLC39A4:Met499Val	PROT:Q6P5W5	SLC39A4	M	499	V	M499V	Benign	0	1	1	362
MUT:SLC39A4:Pro156Thr	PROT:Q6P5W5	SLC39A4	P	156	T	P156T	Likely benign	0	1	1	19
MUT:SLC39A4:Pro176Leu	PROT:Q6P5W5	SLC39A4	P	176	L	P176L	Likely benign	0	1	1	39
MUT:SLC39A4:Pro200Leu	PROT:Q6P5W5	SLC39A4	P	200	L	P200L	Pathogenic/Likely pathogenic	1	2	1	63
MUT:SLC39A4:Pro84Leu	PROT:Q6P5W5	SLC39A4	P	84	L	P84L	Benign/Likely benign	0	1	1	53
MUT:SLC39A4:Ser178Cys	PROT:Q6P5W5	SLC39A4	S	178	C	S178C	Benign/Likely benign	0	1	1	41
MUT:SLC39A4:Thr357Ala	PROT:Q6P5W5	SLC39A4	T	357	A	T357A	Benign	0	1	1	220
MUT:SLC39A4:Thr381Ala	PROT:Q6P5W5	SLC39A4	T	381	A	T381A	Benign/Likely benign	0	1	1	244
MUT:SLC39A4:Thr381Met	PROT:Q6P5W5	SLC39A4	T	381	M	T381M	Likely benign	0	1	1	244
MUT:SLC39A4:Val68Leu	PROT:Q6P5W5	SLC39A4	V	68	L	V68L	Likely benign	0	1	1	69
MUT:SLC44A1:Ser644Ala	PROT:Q8WWI5	SLC44A1	S	644	A	S644A	Benign	0	1	4	0
MUT:SLC44A2:Glu552Gln	PROT:Q8IWA5	SLC44A2	E	552	Q	E552Q	Likely benign	0	6	10	71
MUT:SLC44A4:Ala391Pro	PROT:Q53GD3	SLC44A4	A	391	P	A391P	Likely benign	0	1	2	169
MUT:SLC44A4:Leu313Val	PROT:Q53GD3	SLC44A4	L	313	V	L313V	Likely benign	0	1	2	247
MUT:SLC44A4:Met326Ile	PROT:Q53GD3	SLC44A4	M	326	I	M326I	Likely benign	0	1	2	234
MUT:SLC44A4:Met326Val	PROT:Q53GD3	SLC44A4	M	326	V	M326V	Benign	0	2	2	234
MUT:SLC44A4:Val187Ile	PROT:Q53GD3	SLC44A4	V	187	I	V187I	Benign	0	1	2	174
MUT:SLC45A2:Ala486Thr	PROT:Q9UMX9	SLC45A2	A	486	T	A486T	Pathogenic/Likely pathogenic	1	2	2	462
MUT:SLC45A2:Ala50Glu	PROT:Q9UMX9	SLC45A2	A	50	E	A50E	Likely pathogenic	1	1	2	26
MUT:SLC45A2:Arg101His	PROT:Q9UMX9	SLC45A2	R	101	H	R101H	Likely pathogenic	1	1	2	77
MUT:SLC45A2:Arg102Gln	PROT:Q9UMX9	SLC45A2	R	102	Q	R102Q	Pathogenic/Likely pathogenic	1	1	2	78
MUT:SLC45A2:Asn122Ser	PROT:Q9UMX9	SLC45A2	N	122	S	N122S	Pathogenic/Likely pathogenic	1	2	2	98
MUT:SLC45A2:Asp157Asn	PROT:Q9UMX9	SLC45A2	D	157	N	D157N	Pathogenic	1	1	2	133
MUT:SLC45A2:Asp160His	PROT:Q9UMX9	SLC45A2	D	160	H	D160H	Pathogenic/Likely pathogenic	1	1	2	136
MUT:SLC45A2:Asp93Asn	PROT:Q9UMX9	SLC45A2	D	93	N	D93N	Pathogenic	1	1	2	69
MUT:SLC45A2:Glu272Lys	PROT:Q9UMX9	SLC45A2	E	272	K	E272K	Benign/Likely benign	0	3	2	248
MUT:SLC45A2:Glu368Lys	PROT:Q9UMX9	SLC45A2	E	368	K	E368K	Likely pathogenic	1	1	2	344
MUT:SLC45A2:Gly188Val	PROT:Q9UMX9	SLC45A2	G	188	V	G188V	Pathogenic	1	1	2	164
MUT:SLC45A2:Gly413Glu	PROT:Q9UMX9	SLC45A2	G	413	E	G413E	Likely pathogenic	1	1	2	389
MUT:SLC45A2:Gly491Arg	PROT:Q9UMX9	SLC45A2	G	491	R	G491R	Pathogenic/Likely pathogenic	1	1	2	467
MUT:SLC45A2:Gly89Arg	PROT:Q9UMX9	SLC45A2	G	89	R	G89R	Likely pathogenic	1	1	2	65
MUT:SLC45A2:His38Arg	PROT:Q9UMX9	SLC45A2	H	38	R	H38R	Pathogenic/Likely pathogenic	1	1	2	14
MUT:SLC45A2:Leu193Arg	PROT:Q9UMX9	SLC45A2	L	193	R	L193R	Likely pathogenic	1	1	2	169
MUT:SLC45A2:Leu374Phe	PROT:Q9UMX9	SLC45A2	L	374	F	L374F	Benign	0	1	2	350
MUT:SLC45A2:Leu427Pro	PROT:Q9UMX9	SLC45A2	L	427	P	L427P	Pathogenic	1	1	2	403
MUT:SLC45A2:Met1Thr	PROT:Q9UMX9	SLC45A2	M	1	T	M1T	Pathogenic/Likely pathogenic	1	1	2	14
MUT:SLC45A2:Phe152Leu	PROT:Q9UMX9	SLC45A2	F	152	L	F152L	Likely pathogenic	1	2	2	128
MUT:SLC45A2:Phe43Ser	PROT:Q9UMX9	SLC45A2	F	43	S	F43S	Likely pathogenic	1	1	2	19
MUT:SLC45A2:Pro419Leu	PROT:Q9UMX9	SLC45A2	P	419	L	P419L	Pathogenic/Likely pathogenic	1	2	2	395
MUT:SLC45A2:Trp202Cys	PROT:Q9UMX9	SLC45A2	W	202	C	W202C	Pathogenic/Likely pathogenic	1	3	2	178
MUT:SLC45A2:Trp99Gly	PROT:Q9UMX9	SLC45A2	W	99	G	W99G	Likely pathogenic	1	1	2	75
MUT:SLC46A1:Arg113Cys	PROT:Q96NT5	SLC46A1	R	113	C	R113C	Pathogenic	1	1	1	149
MUT:SLC46A1:Arg113Ser	PROT:Q96NT5	SLC46A1	R	113	S	R113S	Pathogenic	1	1	1	149
MUT:SLC46A1:Arg376Trp	PROT:Q96NT5	SLC46A1	R	376	W	R376W	Pathogenic	1	1	1	114
MUT:SLC46A1:Arg63Ser	PROT:Q96NT5	SLC46A1	R	63	S	R63S	Benign/Likely benign	0	1	1	199
MUT:SLC46A1:Gly338Arg	PROT:Q96NT5	SLC46A1	G	338	R	G338R	Pathogenic	1	1	1	76
MUT:SLC46A1:Gly338Ser	PROT:Q96NT5	SLC46A1	G	338	S	G338S	Likely benign	0	1	1	76
MUT:SLC46A1:Ile274Val	PROT:Q96NT5	SLC46A1	I	274	V	I274V	Likely benign	0	1	1	12
MUT:SLC46A1:Met1Ile	PROT:Q96NT5	SLC46A1	M	1	I	M1I	Likely pathogenic	1	1	1	261
MUT:SLC46A1:Pro425Arg	PROT:Q96NT5	SLC46A1	P	425	R	P425R	Likely pathogenic	1	1	1	163
MUT:SLC46A1:Ser318Arg	PROT:Q96NT5	SLC46A1	S	318	R	S318R	Pathogenic	1	1	1	56
MUT:SLC46A1:Thr295Ala	PROT:Q96NT5	SLC46A1	T	295	A	T295A	Benign/Likely benign	0	2	1	33
MUT:SLC46A1:Val91Leu	PROT:Q96NT5	SLC46A1	V	91	L	V91L	Likely benign	0	1	1	171
MUT:SLC47A2:Gly393Arg	PROT:Q86VL8	SLC47A2	G	393	R	G393R	Benign	0	8	1	151
MUT:SLC49A4:Pro38Ser	PROT:Q96SL1	SLC49A4	P	38	S	P38S	Benign	0	1	1	106
MUT:SLC49A4:Thr378Asn	PROT:Q96SL1	SLC49A4	T	378	N	T378N	Benign	0	1	1	234
MUT:SLC4A11:Ala253Val	PROT:Q8NBS3	SLC4A11	A	253	V	A253V	Likely pathogenic	1	1	13	2
MUT:SLC4A11:Ala530Thr	PROT:Q8NBS3	SLC4A11	A	530	T	A530T	Likely benign	0	1	13	105
MUT:SLC4A11:Ala538Thr	PROT:Q8NBS3	SLC4A11	A	538	T	A538T	Likely benign	0	1	13	97
MUT:SLC4A11:Ala542Thr	PROT:Q8NBS3	SLC4A11	A	542	T	A542T	Likely benign	0	1	13	93
MUT:SLC4A11:Arg304His	PROT:Q8NBS3	SLC4A11	R	304	H	R304H	Likely benign	0	1	13	9
MUT:SLC4A11:Arg43Gln	PROT:Q8NBS3	SLC4A11	R	43	Q	R43Q	Likely benign	0	1	13	31
MUT:SLC4A11:Arg472Lys	PROT:Q8NBS3	SLC4A11	R	472	K	R472K	Pathogenic	1	1	13	128
MUT:SLC4A11:Arg739Gln	PROT:Q8NBS3	SLC4A11	R	739	Q	R739Q	Pathogenic	1	1	13	3
MUT:SLC4A11:Arg739Trp	PROT:Q8NBS3	SLC4A11	R	739	W	R739W	Pathogenic/Likely pathogenic	1	2	13	3
MUT:SLC4A11:Arg788His	PROT:Q8NBS3	SLC4A11	R	788	H	R788H	Likely pathogenic	1	2	13	16
MUT:SLC4A11:Arg853Cys	PROT:Q8NBS3	SLC4A11	R	853	C	R853C	Pathogenic/Likely pathogenic	1	2	13	16
MUT:SLC4A11:Arg853His	PROT:Q8NBS3	SLC4A11	R	853	H	R853H	Pathogenic/Likely pathogenic	1	2	13	16
MUT:SLC4A11:Asn134Asp	PROT:Q8NBS3	SLC4A11	N	134	D	N134D	Likely benign	0	1	13	60
MUT:SLC4A11:Asn134Ser	PROT:Q8NBS3	SLC4A11	N	134	S	N134S	Benign	0	1	13	60
MUT:SLC4A11:Gly173Ser	PROT:Q8NBS3	SLC4A11	G	173	S	G173S	Likely benign	0	1	13	82
MUT:SLC4A11:Gly397Arg	PROT:Q8NBS3	SLC4A11	G	397	R	G397R	Pathogenic/Likely pathogenic	1	1	13	53
MUT:SLC4A11:Gly401Arg	PROT:Q8NBS3	SLC4A11	G	401	R	G401R	Likely pathogenic	1	2	13	57
MUT:SLC4A11:Gly402Asp	PROT:Q8NBS3	SLC4A11	G	402	D	G402D	Likely pathogenic	1	1	13	58
MUT:SLC4A11:Gly448Asp	PROT:Q8NBS3	SLC4A11	G	448	D	G448D	Pathogenic	1	2	13	104
MUT:SLC4A11:Gly693Glu	PROT:Q8NBS3	SLC4A11	G	693	E	G693E	Likely pathogenic	1	2	13	43
MUT:SLC4A11:Leu827Pro	PROT:Q8NBS3	SLC4A11	L	827	P	L827P	Pathogenic/Likely pathogenic	1	2	13	10
MUT:SLC4A11:Met840Val	PROT:Q8NBS3	SLC4A11	M	840	V	M840V	Likely pathogenic	1	1	13	3
MUT:SLC4A11:Pro299Leu	PROT:Q8NBS3	SLC4A11	P	299	L	P299L	Likely benign	0	1	13	4
MUT:SLC4A11:Pro757Leu	PROT:Q8NBS3	SLC4A11	P	757	L	P757L	Pathogenic/Likely pathogenic	1	1	13	5
MUT:SLC4A11:Ser197Leu	PROT:Q8NBS3	SLC4A11	S	197	L	S197L	Pathogenic/Likely pathogenic	1	1	13	58
MUT:SLC4A11:Ser197Pro	PROT:Q8NBS3	SLC4A11	S	197	P	S197P	Likely pathogenic	1	1	13	58
MUT:SLC4A11:Ser261Leu	PROT:Q8NBS3	SLC4A11	S	261	L	S261L	Likely benign	0	1	13	0
MUT:SLC4A11:Ser473Leu	PROT:Q8NBS3	SLC4A11	S	473	L	S473L	Pathogenic/Likely pathogenic	1	2	13	129
MUT:SLC4A11:Ser473Trp	PROT:Q8NBS3	SLC4A11	S	473	W	S473W	Pathogenic	1	1	13	129
MUT:SLC4A11:Thr255Met	PROT:Q8NBS3	SLC4A11	T	255	M	T255M	Pathogenic	1	1	13	0
MUT:SLC4A11:Thr418Ile	PROT:Q8NBS3	SLC4A11	T	418	I	T418I	Likely pathogenic	1	1	13	74
MUT:SLC4A11:Thr494Met	PROT:Q8NBS3	SLC4A11	T	494	M	T494M	Likely benign	0	1	13	141
MUT:SLC4A11:Thr78Ala	PROT:Q8NBS3	SLC4A11	T	78	A	T78A	Likely benign	0	1	13	4
MUT:SLC4A11:Thr817Met	PROT:Q8NBS3	SLC4A11	T	817	M	T817M	Likely pathogenic	1	1	13	7
MUT:SLC4A11:Trp224Ser	PROT:Q8NBS3	SLC4A11	W	224	S	W224S	Likely pathogenic	1	1	13	31
MUT:SLC4A11:Val808Met	PROT:Q8NBS3	SLC4A11	V	808	M	V808M	Pathogenic/Likely pathogenic	1	1	13	2
MUT:SLC4A3:Arg104Trp	PROT:P48751	SLC4A3	R	104	W	R104W	Likely benign	0	1	10	37
MUT:SLC4A3:Arg343Cys	PROT:P48751	SLC4A3	R	343	C	R343C	Likely pathogenic	1	1	10	17
MUT:SLC4A3:Arg343His	PROT:P48751	SLC4A3	R	343	H	R343H	Pathogenic	1	1	10	17
MUT:SLC4A3:Asn537Ser	PROT:P48751	SLC4A3	N	537	S	N537S	Likely benign	0	1	10	43
MUT:SLC4A3:Gly664Arg	PROT:P48751	SLC4A3	G	664	R	G664R	Likely benign	0	1	10	11
MUT:SLC4A5:Gly469Arg	PROT:Q9BY07	SLC4A5	G	469	R	G469R	Likely benign	0	1	1	304
MUT:SLC4A5:Pro823Leu	PROT:Q9BY07	SLC4A5	P	823	L	P823L	Likely benign	0	1	1	50
MUT:SLC4A5:Tyr769Cys	PROT:Q9BY07	SLC4A5	Y	769	C	Y769C	Likely benign	0	1	1	4
MUT:SLC4A7:Glu365Lys	PROT:Q9Y6M7	SLC4A7	E	365	K	E365K	Likely benign	0	1	51	25
MUT:SLC52A3:Ala312Val	PROT:Q9NQ40	SLC52A3	A	312	V	A312V	Pathogenic/Likely pathogenic	1	1	3	48
MUT:SLC52A3:Asp174Gly	PROT:Q9NQ40	SLC52A3	D	174	G	D174G	Benign/Likely benign	0	1	3	77
MUT:SLC52A3:Glu33Gln	PROT:Q9NQ40	SLC52A3	E	33	Q	E33Q	Likely benign	0	2	3	218
MUT:SLC52A3:Gly439Asp	PROT:Q9NQ40	SLC52A3	G	439	D	G439D	Likely pathogenic	1	1	3	175
MUT:SLC52A3:Ile303Val	PROT:Q9NQ40	SLC52A3	I	303	V	I303V	Benign	0	1	3	39
MUT:SLC52A3:Ile74Met	PROT:Q9NQ40	SLC52A3	I	74	M	I74M	Benign/Likely benign	0	1	3	177
MUT:SLC52A3:Leu235Pro	PROT:Q9NQ40	SLC52A3	L	235	P	L235P	Likely pathogenic	1	1	3	16
MUT:SLC52A3:Leu350Met	PROT:Q9NQ40	SLC52A3	L	350	M	L350M	Benign/Likely benign	0	1	3	86
MUT:SLC52A3:Leu438Pro	PROT:Q9NQ40	SLC52A3	L	438	P	L438P	Likely pathogenic	1	1	3	174
MUT:SLC52A3:Phe224Leu	PROT:Q9NQ40	SLC52A3	F	224	L	F224L	Pathogenic	1	1	3	27
MUT:SLC52A3:Phe3Leu	PROT:Q9NQ40	SLC52A3	F	3	L	F3L	Likely benign	0	1	3	248
MUT:SLC52A3:Pro267Leu	PROT:Q9NQ40	SLC52A3	P	267	L	P267L	Benign	0	1	3	3
MUT:SLC52A3:Pro28Thr	PROT:Q9NQ40	SLC52A3	P	28	T	P28T	Pathogenic	1	1	3	223
MUT:SLC52A3:Thr125Ile	PROT:Q9NQ40	SLC52A3	T	125	I	T125I	Likely pathogenic	1	1	3	126
MUT:SLC52A3:Thr278Met	PROT:Q9NQ40	SLC52A3	T	278	M	T278M	Benign	0	1	3	14
MUT:SLC52A3:Trp17Arg	PROT:Q9NQ40	SLC52A3	W	17	R	W17R	Pathogenic	1	1	3	234
MUT:SLC52A3:Val81Met	PROT:Q9NQ40	SLC52A3	V	81	M	V81M	Likely benign	0	2	3	170
MUT:SLC5A1:Ala411Thr	PROT:P13866	SLC5A1	A	411	T	A411T	Benign	0	1	1	140
MUT:SLC5A1:Ala535Val	PROT:P13866	SLC5A1	A	535	V	A535V	Likely benign	0	1	1	264
MUT:SLC5A1:Arg300His	PROT:P13866	SLC5A1	R	300	H	R300H	Likely pathogenic	1	1	1	29
MUT:SLC5A1:Arg336His	PROT:P13866	SLC5A1	R	336	H	R336H	Likely pathogenic	1	1	1	65
MUT:SLC5A1:Arg499Cys	PROT:P13866	SLC5A1	R	499	C	R499C	Likely pathogenic	1	1	1	228
MUT:SLC5A1:Arg499His	PROT:P13866	SLC5A1	R	499	H	R499H	Likely pathogenic	1	1	1	228
MUT:SLC5A1:Arg499Pro	PROT:P13866	SLC5A1	R	499	P	R499P	Pathogenic	1	1	1	228
MUT:SLC5A1:Asn51Ser	PROT:P13866	SLC5A1	N	51	S	N51S	Benign	0	4	1	220
MUT:SLC5A1:Asn579Asp	PROT:P13866	SLC5A1	N	579	D	N579D	Likely benign	0	1	1	308
MUT:SLC5A1:Asp28Asn	PROT:P13866	SLC5A1	D	28	N	D28N	Likely pathogenic	1	1	1	243
MUT:SLC5A1:Cys255Trp	PROT:P13866	SLC5A1	C	255	W	C255W	Pathogenic	1	1	1	16
MUT:SLC5A1:Cys292Tyr	PROT:P13866	SLC5A1	C	292	Y	C292Y	Pathogenic	1	1	1	21
MUT:SLC5A1:Cys355Ser	PROT:P13866	SLC5A1	C	355	S	C355S	Likely pathogenic	1	1	1	84
MUT:SLC5A1:Gln457Arg	PROT:P13866	SLC5A1	Q	457	R	Q457R	Pathogenic	1	2	1	186
MUT:SLC5A1:His615Gln	PROT:P13866	SLC5A1	H	615	Q	H615Q	Benign	0	1	1	344
MUT:SLC5A1:Leu185Ser	PROT:P13866	SLC5A1	L	185	S	L185S	Likely pathogenic	1	1	1	86
MUT:SLC5A1:Leu316Pro	PROT:P13866	SLC5A1	L	316	P	L316P	Likely pathogenic	1	1	1	45
MUT:SLC5A1:Met1Thr	PROT:P13866	SLC5A1	M	1	T	M1T	Likely pathogenic	1	1	1	270
MUT:SLC5A1:Ser159Pro	PROT:P13866	SLC5A1	S	159	P	S159P	Likely pathogenic	1	2	1	112
MUT:SLC5A1:Thr540Ile	PROT:P13866	SLC5A1	T	540	I	T540I	Likely benign	0	1	1	269
MUT:SLC5A1:Val17Ala	PROT:P13866	SLC5A1	V	17	A	V17A	Benign	0	1	1	254
MUT:SLC5A1:Val647Ile	PROT:P13866	SLC5A1	V	647	I	V647I	Likely benign	0	1	1	376
MUT:SLC5A6:Ala317Thr	PROT:Q9Y289	SLC5A6	A	317	T	A317T	Likely benign	0	1	6	31
MUT:SLC5A6:Arg123His	PROT:Q9Y289	SLC5A6	R	123	H	R123H	Likely benign	0	1	6	45
MUT:SLC5A6:Arg123Leu	PROT:Q9Y289	SLC5A6	R	123	L	R123L	Pathogenic	1	1	6	45
MUT:SLC5A6:Arg400Thr	PROT:Q9Y289	SLC5A6	R	400	T	R400T	Pathogenic	1	1	6	114
MUT:SLC5A6:Arg521Trp	PROT:Q9Y289	SLC5A6	R	521	W	R521W	Likely benign	0	1	6	58
MUT:SLC5A6:Arg553Gln	PROT:Q9Y289	SLC5A6	R	553	Q	R553Q	Likely benign	0	1	6	26
MUT:SLC5A6:Arg64His	PROT:Q9Y289	SLC5A6	R	64	H	R64H	Likely benign	0	1	6	14
MUT:SLC5A6:Asn169Ser	PROT:Q9Y289	SLC5A6	N	169	S	N169S	Likely benign	0	1	6	91
MUT:SLC5A6:Gln320Arg	PROT:Q9Y289	SLC5A6	Q	320	R	Q320R	Likely benign	0	1	6	34
MUT:SLC5A6:Ile150Val	PROT:Q9Y289	SLC5A6	I	150	V	I150V	Likely benign	0	1	6	72
MUT:SLC5A6:Leu547Val	PROT:Q9Y289	SLC5A6	L	547	V	L547V	Likely benign	0	1	6	32
MUT:SLC5A6:Pro487Leu	PROT:Q9Y289	SLC5A6	P	487	L	P487L	Likely benign	0	1	6	92
MUT:SLC5A6:Ser15Leu	PROT:Q9Y289	SLC5A6	S	15	L	S15L	Likely benign	0	1	6	63
MUT:SLC5A6:Ser325Asn	PROT:Q9Y289	SLC5A6	S	325	N	S325N	Likely benign	0	1	6	39
MUT:SLC5A6:Ser429Gly	PROT:Q9Y289	SLC5A6	S	429	G	S429G	Pathogenic/Likely pathogenic	1	2	6	143
MUT:SLC5A6:Thr23Ala	PROT:Q9Y289	SLC5A6	T	23	A	T23A	Likely benign	0	1	6	55
MUT:SLC5A6:Tyr319Cys	PROT:Q9Y289	SLC5A6	Y	319	C	Y319C	Likely benign	0	1	6	33
MUT:SLC5A6:Val120Ile	PROT:Q9Y289	SLC5A6	V	120	I	V120I	Likely benign	0	1	6	42
MUT:SLC5A6:Val189Ile	PROT:Q9Y289	SLC5A6	V	189	I	V189I	Likely benign	0	1	6	97
MUT:SLC5A6:Val19Met	PROT:Q9Y289	SLC5A6	V	19	M	V19M	Likely benign	0	1	6	59
MUT:SLC5A6:Val307Met	PROT:Q9Y289	SLC5A6	V	307	M	V307M	Likely benign	0	1	6	21
MUT:SLC5A6:Val458Met	PROT:Q9Y289	SLC5A6	V	458	M	V458M	Likely benign	0	1	6	121
MUT:SLC5A6:Val465Ile	PROT:Q9Y289	SLC5A6	V	465	I	V465I	Likely benign	0	1	6	114
MUT:SLC5A6:Val465Phe	PROT:Q9Y289	SLC5A6	V	465	F	V465F	Likely benign	0	1	6	114
MUT:SLC67A1:Ala204Thr	PROT:Q96BI1	SLC67A1	A	204	T	A204T	Likely benign	0	1	4	25
MUT:SLC6A17:Ala57Thr	PROT:Q9H1V8	SLC6A17	A	57	T	A57T	Benign	0	1	6	10
MUT:SLC6A17:Arg674His	PROT:Q9H1V8	SLC6A17	R	674	H	R674H	Likely benign	0	1	6	5
MUT:SLC6A17:Gly162Arg	PROT:Q9H1V8	SLC6A17	G	162	R	G162R	Pathogenic	1	1	6	115
MUT:SLC6A17:Lys679Arg	PROT:Q9H1V8	SLC6A17	K	679	R	K679R	Benign/Likely benign	0	9	6	0
MUT:SLC6A17:Pro633Arg	PROT:Q9H1V8	SLC6A17	P	633	R	P633R	Pathogenic	1	1	6	46
MUT:SLC6A3:Ala129Thr	PROT:Q01959	SLC6A3	A	129	T	A129T	Likely benign	0	1	9	67
MUT:SLC6A3:Ala346Thr	PROT:Q01959	SLC6A3	A	346	T	A346T	Likely benign	0	1	9	267
MUT:SLC6A3:Arg237Gln	PROT:Q01959	SLC6A3	R	237	Q	R237Q	Likely benign	0	1	9	175
MUT:SLC6A3:Arg601His	PROT:Q01959	SLC6A3	R	601	H	R601H	Likely benign	0	1	9	12
MUT:SLC6A3:Arg615His	PROT:Q01959	SLC6A3	R	615	H	R615H	Likely benign	0	1	9	2
MUT:SLC6A3:Asp600Glu	PROT:Q01959	SLC6A3	D	600	E	D600E	Likely benign	0	1	9	13
MUT:SLC6A3:Gly386Arg	PROT:Q01959	SLC6A3	G	386	R	G386R	Likely pathogenic	1	1	9	227
MUT:SLC6A3:Leu224Pro	PROT:Q01959	SLC6A3	L	224	P	L224P	Pathogenic	1	1	9	162
MUT:SLC6A3:Leu368Gln	PROT:Q01959	SLC6A3	L	368	Q	L368Q	Pathogenic	1	1	9	245
MUT:SLC6A3:Pro395Leu	PROT:Q01959	SLC6A3	P	395	L	P395L	Pathogenic	1	1	9	218
MUT:SLC6A3:Val464Ile	PROT:Q01959	SLC6A3	V	464	I	V464I	Benign/Likely benign	0	1	9	149
MUT:SLC6A4:Lys605Asn	PROT:P31645	SLC6A4	K	605	N	K605N	Likely benign	0	1	9	2
MUT:SLC6A4:Phe465Leu	PROT:P31645	SLC6A4	F	465	L	F465L	Likely benign	0	2	9	138
MUT:SLC6A9:Ala173Thr	PROT:P48067	SLC6A9	A	173	T	A173T	Likely benign	0	1	3	476
MUT:SLC6A9:Arg214Trp	PROT:P48067	SLC6A9	R	214	W	R214W	Likely pathogenic	1	1	3	435
MUT:SLC6A9:Arg558Gln	PROT:P48067	SLC6A9	R	558	Q	R558Q	Likely benign	0	1	3	91
MUT:SLC6A9:Gly158Ser	PROT:P48067	SLC6A9	G	158	S	G158S	Benign/Likely benign	0	1	3	491
MUT:SLC6A9:Gly604Ser	PROT:P48067	SLC6A9	G	604	S	G604S	Likely benign	0	1	3	45
MUT:SLC6A9:Pro79Ser	PROT:P48067	SLC6A9	P	79	S	P79S	Likely pathogenic	1	1	3	570
MUT:SLC6A9:Ser224Phe	PROT:P48067	SLC6A9	S	224	F	S224F	Likely pathogenic	1	1	3	425
MUT:SLC6A9:Ser334Gly	PROT:P48067	SLC6A9	S	334	G	S334G	Pathogenic	1	1	3	315
MUT:SLC6A9:Tyr133Phe	PROT:P48067	SLC6A9	Y	133	F	Y133F	Likely benign	0	2	3	516
MUT:SLC7A14:Ala132Val	PROT:Q8TBB6	SLC7A14	A	132	V	A132V	Pathogenic	1	1	11	125
MUT:SLC7A14:Arg695Cys	PROT:Q8TBB6	SLC7A14	R	695	C	R695C	Likely benign	0	1	11	2
MUT:SLC7A14:Gln593Arg	PROT:Q8TBB6	SLC7A14	Q	593	R	Q593R	Likely pathogenic	1	1	11	82
MUT:SLC7A14:Gly330Arg	PROT:Q8TBB6	SLC7A14	G	330	R	G330R	Benign/Likely benign	0	3	11	135
MUT:SLC7A14:Gly722Arg	PROT:Q8TBB6	SLC7A14	G	722	R	G722R	Benign/Likely benign	0	1	11	6
MUT:SLC7A14:Ile211Thr	PROT:Q8TBB6	SLC7A14	I	211	T	I211T	Likely benign	0	1	11	204
MUT:SLC7A14:Phe708Val	PROT:Q8TBB6	SLC7A14	F	708	V	F708V	Pathogenic	1	1	11	8
MUT:SLC7A14:Thr561Met	PROT:Q8TBB6	SLC7A14	T	561	M	T561M	Likely pathogenic	1	1	11	50
MUT:SLC7A14:Val377Ile	PROT:Q8TBB6	SLC7A14	V	377	I	V377I	Benign	0	1	11	88
MUT:SLC7A6:Glu26Asp	PROT:Q92536	SLC7A6	E	26	D	E26D	Benign	0	1	1	321
MUT:SLC7A8:Ala244Thr	PROT:Q9UHI5	SLC7A8	A	244	T	A244T	Likely pathogenic	1	1	3	215
MUT:SLC7A8:Asn284Ser	PROT:Q9UHI5	SLC7A8	N	284	S	N284S	Likely pathogenic	1	1	3	241
MUT:SLC7A9:Ala109Thr	PROT:P82251	SLC7A9	A	109	T	A109T	Likely pathogenic	1	1	1	230
MUT:SLC7A9:Ala126Thr	PROT:P82251	SLC7A9	A	126	T	A126T	Pathogenic/Likely pathogenic	1	1	1	213
MUT:SLC7A9:Ala70Val	PROT:P82251	SLC7A9	A	70	V	A70V	Likely pathogenic	1	1	1	269
MUT:SLC7A9:Ala76Val	PROT:P82251	SLC7A9	A	76	V	A76V	Likely pathogenic	1	1	1	263
MUT:SLC7A9:Arg250Lys	PROT:P82251	SLC7A9	R	250	K	R250K	Likely pathogenic	1	1	1	89
MUT:SLC7A9:Arg333Gln	PROT:P82251	SLC7A9	R	333	Q	R333Q	Likely pathogenic	1	1	1	6
MUT:SLC7A9:Arg333Trp	PROT:P82251	SLC7A9	R	333	W	R333W	Pathogenic/Likely pathogenic	1	2	1	6
MUT:SLC7A9:Cys137Arg	PROT:P82251	SLC7A9	C	137	R	C137R	Likely pathogenic	1	1	1	202
MUT:SLC7A9:Gln177Arg	PROT:P82251	SLC7A9	Q	177	R	Q177R	Likely pathogenic	1	1	1	162
MUT:SLC7A9:Gln237Lys	PROT:P82251	SLC7A9	Q	237	K	Q237K	Likely pathogenic	1	1	1	102
MUT:SLC7A9:Gly105Arg	PROT:P82251	SLC7A9	G	105	R	G105R	Pathogenic/Likely pathogenic	1	2	1	234
MUT:SLC7A9:Gly173Arg	PROT:P82251	SLC7A9	G	173	R	G173R	Likely pathogenic	1	1	1	166
MUT:SLC7A9:Gly195Arg	PROT:P82251	SLC7A9	G	195	R	G195R	Pathogenic/Likely pathogenic	1	1	1	144
MUT:SLC7A9:Gly195Glu	PROT:P82251	SLC7A9	G	195	E	G195E	Pathogenic	1	1	1	144
MUT:SLC7A9:Gly259Arg	PROT:P82251	SLC7A9	G	259	R	G259R	Likely pathogenic	1	1	1	80
MUT:SLC7A9:Ile256Val	PROT:P82251	SLC7A9	I	256	V	I256V	Likely pathogenic	1	1	1	83
MUT:SLC7A9:Ile44Thr	PROT:P82251	SLC7A9	I	44	T	I44T	Pathogenic	1	1	1	295
MUT:SLC7A9:Leu223Met	PROT:P82251	SLC7A9	L	223	M	L223M	Benign/Likely benign	0	1	1	116
MUT:SLC7A9:Met1Val	PROT:P82251	SLC7A9	M	1	V	M1V	Likely pathogenic	1	1	1	338
MUT:SLC7A9:Pro468Leu	PROT:P82251	SLC7A9	P	468	L	P468L	Benign/Likely benign	0	1	1	129
MUT:SLC7A9:Pro482Leu	PROT:P82251	SLC7A9	P	482	L	P482L	Pathogenic	1	1	1	143
MUT:SLC7A9:Pro482Ser	PROT:P82251	SLC7A9	P	482	S	P482S	Benign/Likely benign	0	1	1	143
MUT:SLC7A9:Ser51Pro	PROT:P82251	SLC7A9	S	51	P	S51P	Pathogenic/Likely pathogenic	1	2	1	288
MUT:SLC7A9:Tyr141Ser	PROT:P82251	SLC7A9	Y	141	S	Y141S	Likely pathogenic	1	1	1	198
MUT:SLC7A9:Val142Ala	PROT:P82251	SLC7A9	V	142	A	V142A	Benign/Likely benign	0	1	1	197
MUT:SLC7A9:Val170Met	PROT:P82251	SLC7A9	V	170	M	V170M	Pathogenic	1	1	1	169
MUT:SLC9A1:Glu54Gln	PROT:P19634	SLC9A1	E	54	Q	E54Q	Likely benign	0	1	21	36
MUT:SLC9A1:Gly305Arg	PROT:P19634	SLC9A1	G	305	R	G305R	Likely pathogenic	1	1	21	272
MUT:SLC9A1:Ile451Leu	PROT:P19634	SLC9A1	I	451	L	I451L	Likely pathogenic	1	1	21	126
MUT:SLC9A3:Ala269Thr	PROT:P48764	SLC9A3	A	269	T	A269T	Pathogenic/Likely pathogenic	1	1	7	276
MUT:SLC9A3:Ala311Val	PROT:P48764	SLC9A3	A	311	V	A311V	Pathogenic	1	1	7	234
MUT:SLC9A3:Arg382Gln	PROT:P48764	SLC9A3	R	382	Q	R382Q	Pathogenic	1	1	7	163
MUT:SLC9A3:Arg604Gln	PROT:P48764	SLC9A3	R	604	Q	R604Q	Benign	0	1	7	3
MUT:SLC9A3:Arg606Trp	PROT:P48764	SLC9A3	R	606	W	R606W	Benign	0	1	7	1
MUT:SLC9A3:Asn360Asp	PROT:P48764	SLC9A3	N	360	D	N360D	Likely benign	0	1	7	185
MUT:SLC9A3:Asp405Gly	PROT:P48764	SLC9A3	D	405	G	D405G	Pathogenic	1	1	7	140
MUT:SLC9A3:Asp429Asn	PROT:P48764	SLC9A3	D	429	N	D429N	Likely benign	0	1	7	116
MUT:SLC9A3:Cys799Arg	PROT:P48764	SLC9A3	C	799	R	C799R	Benign	0	1	7	5
MUT:SLC9A3:Met802Thr	PROT:P48764	SLC9A3	M	802	T	M802T	Likely benign	0	1	7	8
MUT:SLC9A3:Ser217Leu	PROT:P48764	SLC9A3	S	217	L	S217L	Likely pathogenic	1	1	7	328
MUT:SLC9A3:Val124Met	PROT:P48764	SLC9A3	V	124	M	V124M	Likely benign	0	2	7	421
MUT:SLC9A3:Val266Met	PROT:P48764	SLC9A3	V	266	M	V266M	Likely benign	0	1	7	279
MUT:SLC9A3:Val518Ile	PROT:P48764	SLC9A3	V	518	I	V518I	Likely benign	0	1	7	27
MUT:SLC9A3:Val90Met	PROT:P48764	SLC9A3	V	90	M	V90M	Benign	0	1	7	455
MUT:SLC9A7:Leu328Val	PROT:Q96T83	SLC9A7	L	328	V	L328V	Likely benign	0	1	6	363
MUT:SLC9A7:Leu515Phe	PROT:Q96T83	SLC9A7	L	515	F	L515F	Likely pathogenic	1	2	6	176
MUT:SLC9A7:Thr312Asn	PROT:Q96T83	SLC9A7	T	312	N	T312N	Likely benign	0	1	6	379
MUT:SLCO2A1:Arg445Cys	PROT:Q92959	SLCO2A1	R	445	C	R445C	Benign/Likely benign	0	2	1	138
MUT:SLCO2A1:Arg97His	PROT:Q92959	SLCO2A1	R	97	H	R97H	Likely pathogenic	1	1	1	210
MUT:SLCO2A1:Asn365Lys	PROT:Q92959	SLCO2A1	N	365	K	N365K	Pathogenic	1	1	1	58
MUT:SLCO2A1:Cys317Arg	PROT:Q92959	SLCO2A1	C	317	R	C317R	Likely benign	0	1	1	10
MUT:SLCO2A1:Cys420Phe	PROT:Q92959	SLCO2A1	C	420	F	C420F	Pathogenic/Likely pathogenic	1	1	1	113
MUT:SLCO2A1:Gln556His	PROT:Q92959	SLCO2A1	Q	556	H	Q556H	Pathogenic	1	1	1	249
MUT:SLCO2A1:Glu123Lys	PROT:Q92959	SLCO2A1	E	123	K	E123K	Likely benign	0	1	1	184
MUT:SLCO2A1:Glu60Lys	PROT:Q92959	SLCO2A1	E	60	K	E60K	Pathogenic	1	1	1	247
MUT:SLCO2A1:Gly104Arg	PROT:Q92959	SLCO2A1	G	104	R	G104R	Pathogenic/Likely pathogenic	1	1	1	203
MUT:SLCO2A1:Gly183Arg	PROT:Q92959	SLCO2A1	G	183	R	G183R	Pathogenic/Likely pathogenic	1	1	1	124
MUT:SLCO2A1:Gly222Arg	PROT:Q92959	SLCO2A1	G	222	R	G222R	Pathogenic	1	3	1	85
MUT:SLCO2A1:Gly255Arg	PROT:Q92959	SLCO2A1	G	255	R	G255R	Pathogenic	1	1	1	52
MUT:SLCO2A1:Gly255Glu	PROT:Q92959	SLCO2A1	G	255	E	G255E	Pathogenic	1	1	1	52
MUT:SLCO2A1:Gly369Asp	PROT:Q92959	SLCO2A1	G	369	D	G369D	Pathogenic	1	1	1	62
MUT:SLCO2A1:Gly554Arg	PROT:Q92959	SLCO2A1	G	554	R	G554R	Pathogenic	1	2	1	247
MUT:SLCO2A1:Ile101Ser	PROT:Q92959	SLCO2A1	I	101	S	I101S	Pathogenic	1	1	1	206
MUT:SLCO2A1:Ile85Phe	PROT:Q92959	SLCO2A1	I	85	F	I85F	Pathogenic	1	1	1	222
MUT:SLCO2A1:Pro205Leu	PROT:Q92959	SLCO2A1	P	205	L	P205L	Likely pathogenic	1	1	1	102
MUT:SLCO2A1:Pro283Ser	PROT:Q92959	SLCO2A1	P	283	S	P283S	Benign	0	1	1	24
MUT:SLCO2A1:Pro430Ser	PROT:Q92959	SLCO2A1	P	430	S	P430S	Benign	0	1	1	123
MUT:SLCO2A1:Pro431Thr	PROT:Q92959	SLCO2A1	P	431	T	P431T	Likely benign	0	1	1	124
MUT:SLCO2A1:Ser10Pro	PROT:Q92959	SLCO2A1	S	10	P	S10P	Likely benign	0	1	1	297
MUT:SLCO2A1:Ser26Leu	PROT:Q92959	SLCO2A1	S	26	L	S26L	Benign/Likely benign	0	1	1	281
MUT:SLCO2A1:Ser339Phe	PROT:Q92959	SLCO2A1	S	339	F	S339F	Likely pathogenic	1	1	1	32
MUT:SLCO2A1:Tyr357His	PROT:Q92959	SLCO2A1	Y	357	H	Y357H	Likely pathogenic	1	1	1	50
MUT:SLCO2A1:Val228Ile	PROT:Q92959	SLCO2A1	V	228	I	V228I	Likely benign	0	1	1	79
MUT:SLCO2A1:Val458Phe	PROT:Q92959	SLCO2A1	V	458	F	V458F	Pathogenic	1	1	1	151
MUT:SLCO5A1:Ile751Val	PROT:Q9H2Y9	SLCO5A1	I	751	V	I751V	Likely benign	0	1	4	260
MUT:SLCO5A1:Met358Val	PROT:Q9H2Y9	SLCO5A1	M	358	V	M358V	Benign/Likely benign	0	4	4	115
MUT:SLF1:Gln246Arg	PROT:Q9BQI6	SLF1	Q	246	R	Q246R	Likely benign	0	2	14	49
MUT:SLFN11:Ile868Thr	PROT:Q7Z7L1	SLFN11	I	868	T	I868T	Likely pathogenic	1	1	20	22
MUT:SLFN14:Arg132Trp	PROT:P0C7P3	SLFN14	R	132	W	R132W	Likely benign	0	1	3	101
MUT:SLFN14:Arg223Trp	PROT:P0C7P3	SLFN14	R	223	W	R223W	Pathogenic	1	1	3	10
MUT:SLFN14:Arg392Gln	PROT:P0C7P3	SLFN14	R	392	Q	R392Q	Likely benign	0	1	3	150
MUT:SLFN14:Arg47Gln	PROT:P0C7P3	SLFN14	R	47	Q	R47Q	Likely benign	0	1	3	186
MUT:SLFN14:Arg534Ser	PROT:P0C7P3	SLFN14	R	534	S	R534S	Likely benign	0	1	3	292
MUT:SLFN14:Arg827His	PROT:P0C7P3	SLFN14	R	827	H	R827H	Likely benign	0	1	3	585
MUT:SLFN14:Asn680Ser	PROT:P0C7P3	SLFN14	N	680	S	N680S	Likely benign	0	1	3	438
MUT:SLFN14:Gln93Arg	PROT:P0C7P3	SLFN14	Q	93	R	Q93R	Benign	0	2	3	140
MUT:SLFN14:Ile16Val	PROT:P0C7P3	SLFN14	I	16	V	I16V	Likely benign	0	1	3	217
MUT:SLFN14:Leu905Phe	PROT:P0C7P3	SLFN14	L	905	F	L905F	Benign	0	1	3	663
MUT:SLFN14:Lys218Glu	PROT:P0C7P3	SLFN14	K	218	E	K218E	Likely pathogenic	1	1	3	15
MUT:SLFN14:Lys385Glu	PROT:P0C7P3	SLFN14	K	385	E	K385E	Benign	0	1	3	143
MUT:SLFN14:Lys450Glu	PROT:P0C7P3	SLFN14	K	450	E	K450E	Benign	0	1	3	208
MUT:SLFN14:Pro11Leu	PROT:P0C7P3	SLFN14	P	11	L	P11L	Likely benign	0	1	3	222
MUT:SLFN14:Pro356Ser	PROT:P0C7P3	SLFN14	P	356	S	P356S	Benign	0	1	3	114
MUT:SLFN14:Ser142Arg	PROT:P0C7P3	SLFN14	S	142	R	S142R	Likely benign	0	1	3	91
MUT:SLFN14:Trp259Arg	PROT:P0C7P3	SLFN14	W	259	R	W259R	Likely benign	0	1	3	17
MUT:SLFN14:Tyr770Phe	PROT:P0C7P3	SLFN14	Y	770	F	Y770F	Likely benign	0	1	3	528
MUT:SLFN14:Tyr912Phe	PROT:P0C7P3	SLFN14	Y	912	F	Y912F	Benign	0	1	3	670
MUT:SLFN14:Val220Asp	PROT:P0C7P3	SLFN14	V	220	D	V220D	Likely pathogenic	1	2	3	13
MUT:SLIT1:Ile759Asn	PROT:O75093	SLIT1	I	759	N	I759N	Likely pathogenic	1	1	8	69
MUT:SLITRK5:Ala737Ser	PROT:O94991	SLITRK5	A	737	S	A737S	Likely benign	0	1	11	12
MUT:SLITRK5:Gln118His	PROT:O94991	SLITRK5	Q	118	H	Q118H	Likely benign	0	1	11	631
MUT:SLITRK5:Glu839Gln	PROT:O94991	SLITRK5	E	839	Q	E839Q	Likely pathogenic	1	1	11	6
MUT:SLITRK5:Leu610Gln	PROT:O94991	SLITRK5	L	610	Q	L610Q	Benign	0	1	11	139
MUT:SLITRK6:Ala50Glu	PROT:Q9H5Y7	SLITRK6	A	50	E	A50E	Likely benign	0	1	8	602
MUT:SLITRK6:Gly732Glu	PROT:Q9H5Y7	SLITRK6	G	732	E	G732E	Benign/Likely benign	0	1	8	38
MUT:SLITRK6:Ile105Thr	PROT:Q9H5Y7	SLITRK6	I	105	T	I105T	Likely benign	0	1	8	547
MUT:SLITRK6:Leu25Phe	PROT:Q9H5Y7	SLITRK6	L	25	F	L25F	Benign	0	1	8	627
MUT:SLITRK6:Lys428Arg	PROT:Q9H5Y7	SLITRK6	K	428	R	K428R	Likely benign	0	1	8	224
MUT:SLITRK6:Met1Ile	PROT:Q9H5Y7	SLITRK6	M	1	I	M1I	Pathogenic	1	1	8	651
MUT:SLITRK6:Thr411Arg	PROT:Q9H5Y7	SLITRK6	T	411	R	T411R	Likely benign	0	1	8	241
MUT:SLURP1:Asp81Glu	PROT:P55000	SLURP1	D	81	E	D81E	Pathogenic	1	1	5	6
MUT:SLURP1:Cys77Arg	PROT:P55000	SLURP1	C	77	R	C77R	Pathogenic	1	1	5	2
MUT:SLURP1:Cys99Tyr	PROT:P55000	SLURP1	C	99	Y	C99Y	Pathogenic	1	1	5	24
MUT:SLURP1:Gly86Arg	PROT:P55000	SLURP1	G	86	R	G86R	Pathogenic	1	1	5	11
MUT:SLURP1:Met1Leu	PROT:P55000	SLURP1	M	1	L	M1L	Likely pathogenic	1	1	5	65
MUT:SLURP1:Trp15Arg	PROT:P55000	SLURP1	W	15	R	W15R	Pathogenic	1	1	5	51
MUT:SMAD2:Cys312Ser	PROT:Q15796	SMAD2	C	312	S	C312S	Pathogenic	1	1	25	5
MUT:SMAD2:Gly314Ala	PROT:Q15796	SMAD2	G	314	A	G314A	Likely pathogenic	1	1	25	3
MUT:SMAD2:Gly457Arg	PROT:Q15796	SMAD2	G	457	R	G457R	Pathogenic	1	1	25	1
MUT:SMAD2:Ser353Arg	PROT:Q15796	SMAD2	S	353	R	S353R	Likely pathogenic	1	1	25	36
MUT:SMAD2:Ser465Thr	PROT:Q15796	SMAD2	S	465	T	S465T	Pathogenic	1	1	25	0
MUT:SMAD2:Thr303Arg	PROT:Q15796	SMAD2	T	303	R	T303R	Likely pathogenic	1	1	25	14
MUT:SMAD2:Trp274Cys	PROT:Q15796	SMAD2	W	274	C	W274C	Pathogenic	1	1	25	14
MUT:SMAD2:Tyr406Cys	PROT:Q15796	SMAD2	Y	406	C	Y406C	Pathogenic/Likely pathogenic	1	1	25	11
MUT:SMARCA5:Ala56Ser	PROT:O60264	SMARCA5	A	56	S	A56S	Likely benign	0	1	30	10
MUT:SMARCA5:Arg312Gly	PROT:O60264	SMARCA5	R	312	G	R312G	Likely pathogenic	1	1	30	7
MUT:SMARCA5:Gly208Asp	PROT:O60264	SMARCA5	G	208	D	G208D	Likely pathogenic	1	1	30	32
MUT:SMARCA5:Lys314Gln	PROT:O60264	SMARCA5	K	314	Q	K314Q	Likely pathogenic	1	1	30	5
MUT:SMARCA5:Pro339Ala	PROT:O60264	SMARCA5	P	339	A	P339A	Likely pathogenic	1	1	30	20
MUT:SMARCA5:Pro339Ser	PROT:O60264	SMARCA5	P	339	S	P339S	Likely pathogenic	1	2	30	20
MUT:SMARCC2:Ala316Thr	PROT:Q8TAQ2	SMARCC2	A	316	T	A316T	Likely benign	0	1	46	5
MUT:SMARCC2:Ala430Thr	PROT:Q8TAQ2	SMARCC2	A	430	T	A430T	Likely benign	0	1	46	23
MUT:SMARCC2:Asp836Asn	PROT:Q8TAQ2	SMARCC2	D	836	N	D836N	Likely benign	0	1	46	0
MUT:SMARCC2:Glu819Gly	PROT:Q8TAQ2	SMARCC2	E	819	G	E819G	Likely benign	0	1	46	17
MUT:SMARCC2:Glu924Gly	PROT:Q8TAQ2	SMARCC2	E	924	G	E924G	Likely pathogenic	1	1	46	16
MUT:SMARCC2:Glu931Lys	PROT:Q8TAQ2	SMARCC2	E	931	K	E931K	Likely pathogenic	1	1	46	9
MUT:SMARCC2:Ile78Met	PROT:Q8TAQ2	SMARCC2	I	78	M	I78M	Likely benign	0	1	46	9
MUT:SMARCC2:Leu1133Val	PROT:Q8TAQ2	SMARCC2	L	1133	V	L1133V	Likely benign	0	1	46	75
MUT:SMARCC2:Leu339Val	PROT:Q8TAQ2	SMARCC2	L	339	V	L339V	Likely benign	0	1	46	8
MUT:SMARCC2:Leu490Pro	PROT:Q8TAQ2	SMARCC2	L	490	P	L490P	Likely pathogenic	1	1	46	37
MUT:SMARCC2:Leu640Pro	PROT:Q8TAQ2	SMARCC2	L	640	P	L640P	Pathogenic	1	1	46	18
MUT:SMARCC2:Leu641Pro	PROT:Q8TAQ2	SMARCC2	L	641	P	L641P	Pathogenic	1	1	46	19
MUT:SMARCC2:Lys129Glu	PROT:Q8TAQ2	SMARCC2	K	129	E	K129E	Likely pathogenic	1	1	46	27
MUT:SMARCC2:Lys916Glu	PROT:Q8TAQ2	SMARCC2	K	916	E	K916E	Likely pathogenic	1	1	46	14
MUT:SMARCC2:Met1091Val	PROT:Q8TAQ2	SMARCC2	M	1091	V	M1091V	Likely benign	0	1	46	117
MUT:SMARCC2:Met927Val	PROT:Q8TAQ2	SMARCC2	M	927	V	M927V	Pathogenic	1	1	46	13
MUT:SMARCC2:Pro1073Leu	PROT:Q8TAQ2	SMARCC2	P	1073	L	P1073L	Likely benign	0	1	46	104
MUT:SMARCC2:Pro1074Thr	PROT:Q8TAQ2	SMARCC2	P	1074	T	P1074T	Likely benign	0	1	46	105
MUT:SMARCC2:Pro1076Ser	PROT:Q8TAQ2	SMARCC2	P	1076	S	P1076S	Likely benign	0	1	46	107
MUT:SMARCC2:Pro1144Ala	PROT:Q8TAQ2	SMARCC2	P	1144	A	P1144A	Likely benign	0	1	46	64
MUT:SMARCC2:Pro1163Ala	PROT:Q8TAQ2	SMARCC2	P	1163	A	P1163A	Likely benign	0	1	46	45
MUT:SMARCC2:Pro77Leu	PROT:Q8TAQ2	SMARCC2	P	77	L	P77L	Likely pathogenic	1	1	46	8
MUT:SMARCC2:Pro997Leu	PROT:Q8TAQ2	SMARCC2	P	997	L	P997L	Likely benign	0	1	46	28
MUT:SMARCC2:Ser321Leu	PROT:Q8TAQ2	SMARCC2	S	321	L	S321L	Likely benign	0	1	46	0
MUT:SMARCC2:Ser776Phe	PROT:Q8TAQ2	SMARCC2	S	776	F	S776F	Likely benign	0	1	46	22
MUT:SMARCC2:Ser785Cys	PROT:Q8TAQ2	SMARCC2	S	785	C	S785C	Benign	0	2	46	31
MUT:SMARCC2:Thr400Met	PROT:Q8TAQ2	SMARCC2	T	400	M	T400M	Likely benign	0	1	46	0
MUT:SMARCC2:Val1019Met	PROT:Q8TAQ2	SMARCC2	V	1019	M	V1019M	Likely benign	0	1	46	50
MUT:SMARCD1:Arg351Cys	PROT:Q96GM5	SMARCD1	R	351	C	R351C	Likely pathogenic	1	1	8	35
MUT:SMARCD1:Arg446Gly	PROT:Q96GM5	SMARCD1	R	446	G	R446G	Pathogenic	1	1	8	11
MUT:SMARCD1:Arg461Ser	PROT:Q96GM5	SMARCD1	R	461	S	R461S	Likely benign	0	1	8	26
MUT:SMARCD1:Arg68Gln	PROT:Q96GM5	SMARCD1	R	68	Q	R68Q	Likely benign	0	1	8	33
MUT:SMARCD1:Asn84Ser	PROT:Q96GM5	SMARCD1	N	84	S	N84S	Likely benign	0	1	8	17
MUT:SMARCD1:Asp330Glu	PROT:Q96GM5	SMARCD1	D	330	E	D330E	Pathogenic	1	1	8	56
MUT:SMARCD1:Gln112His	PROT:Q96GM5	SMARCD1	Q	112	H	Q112H	Benign/Likely benign	0	1	8	11
MUT:SMARCD1:Ile424Thr	PROT:Q96GM5	SMARCD1	I	424	T	I424T	Likely pathogenic	1	1	8	11
MUT:SMARCD1:Phe495Leu	PROT:Q96GM5	SMARCD1	F	495	L	F495L	Pathogenic	1	1	8	3
MUT:SMARCD2:Ala24Val	PROT:Q92925	SMARCD2	A	24	V	A24V	Benign/Likely benign	0	1	16	119
MUT:SMG8:His208Arg	PROT:Q8ND04	SMG8	H	208	R	H208R	Pathogenic	1	1	27	28
MUT:SMG8:Pro23Leu	PROT:Q8ND04	SMG8	P	23	L	P23L	Likely benign	0	1	27	213
MUT:SMG8:Val737Ile	PROT:Q8ND04	SMG8	V	737	I	V737I	Likely benign	0	1	27	5
MUT:SMG9:Arg385Gln	PROT:Q9H0W8	SMG9	R	385	Q	R385Q	Benign/Likely benign	0	1	8	12
MUT:SMG9:Thr83Ala	PROT:Q9H0W8	SMG9	T	83	A	T83A	Likely benign	0	1	8	31
MUT:SMG9:Trp503Ser	PROT:Q9H0W8	SMG9	W	503	S	W503S	Pathogenic	1	1	8	31
MUT:SMG9:Val113Met	PROT:Q9H0W8	SMG9	V	113	M	V113M	Likely benign	0	1	8	1
MUT:SMG9:Val184Ala	PROT:Q9H0W8	SMG9	V	184	A	V184A	Pathogenic	1	1	8	14
MUT:SMO:Arg173His	PROT:Q99835	SMO	R	173	H	R173H	Likely benign	0	1	2	598
MUT:SMO:Arg261Cys	PROT:Q99835	SMO	R	261	C	R261C	Pathogenic	1	1	2	510
MUT:SMO:Arg400Cys	PROT:Q99835	SMO	R	400	C	R400C	Likely pathogenic	1	1	2	371
MUT:SMO:Arg562Gln	PROT:Q99835	SMO	R	562	Q	R562Q	Pathogenic	1	1	2	209
MUT:SMO:Arg576Gln	PROT:Q99835	SMO	R	576	Q	R576Q	Pathogenic	1	1	2	195
MUT:SMO:Arg576Trp	PROT:Q99835	SMO	R	576	W	R576W	Pathogenic	1	1	2	195
MUT:SMO:His577Arg	PROT:Q99835	SMO	H	577	R	H577R	Likely benign	0	1	2	194
MUT:SMO:Ile429Phe	PROT:Q99835	SMO	I	429	F	I429F	Pathogenic	1	1	2	342
MUT:SMO:Leu412Phe	PROT:Q99835	SMO	L	412	F	L412F	Pathogenic	1	3	2	359
MUT:SMO:Phe252Leu	PROT:Q99835	SMO	F	252	L	F252L	Likely pathogenic	1	1	2	519
MUT:SMO:Pro647Ser	PROT:Q99835	SMO	P	647	S	P647S	Benign/Likely benign	0	1	2	124
MUT:SMO:Pro698Arg	PROT:Q99835	SMO	P	698	R	P698R	Likely benign	0	1	2	73
MUT:SMO:Thr778Ala	PROT:Q99835	SMO	T	778	A	T778A	Likely benign	0	1	2	7
MUT:SMO:Trp535Leu	PROT:Q99835	SMO	W	535	L	W535L	Pathogenic	1	1	2	236
MUT:SMS:Ala36Val	PROT:P52788	SMS	A	36	V	A36V	Likely benign	0	1	13	15
MUT:SMS:Arg110Gly	PROT:P52788	SMS	R	110	G	R110G	Likely pathogenic	1	1	13	5
MUT:SMS:Arg130Cys	PROT:P52788	SMS	R	130	C	R130C	Pathogenic	1	1	13	4
MUT:SMS:Asp137Gly	PROT:P52788	SMS	D	137	G	D137G	Likely pathogenic	1	2	13	3
MUT:SMS:Asp222Val	PROT:P52788	SMS	D	222	V	D222V	Likely pathogenic	1	1	13	13
MUT:SMS:Cys318Trp	PROT:P52788	SMS	C	318	W	C318W	Pathogenic	1	1	13	7
MUT:SMS:Gln148Arg	PROT:P52788	SMS	Q	148	R	Q148R	Pathogenic	1	1	13	14
MUT:SMS:Gln148Glu	PROT:P52788	SMS	Q	148	E	Q148E	Likely pathogenic	1	1	13	14
MUT:SMS:Gly117Val	PROT:P52788	SMS	G	117	V	G117V	Likely pathogenic	1	2	13	12
MUT:SMS:Gly203Asp	PROT:P52788	SMS	G	203	D	G203D	Pathogenic	1	1	13	11
MUT:SMS:Gly203Val	PROT:P52788	SMS	G	203	V	G203V	Likely pathogenic	1	1	13	11
MUT:SMS:Gly56Ser	PROT:P52788	SMS	G	56	S	G56S	Pathogenic	1	1	13	1
MUT:SMS:Gly67Glu	PROT:P52788	SMS	G	67	E	G67E	Pathogenic	1	1	13	10
MUT:SMS:Gly67Val	PROT:P52788	SMS	G	67	V	G67V	Likely pathogenic	1	1	13	10
MUT:SMS:Ile196Thr	PROT:P52788	SMS	I	196	T	I196T	Likely pathogenic	1	1	13	4
MUT:SMS:Pro112Gln	PROT:P52788	SMS	P	112	Q	P112Q	Likely pathogenic	1	1	13	7
MUT:SMS:Pro213Gln	PROT:P52788	SMS	P	213	Q	P213Q	Likely pathogenic	1	1	13	21
MUT:SMS:Ser101Gly	PROT:P52788	SMS	S	101	G	S101G	Benign/Likely benign	0	1	13	3
MUT:SMS:Ser302Leu	PROT:P52788	SMS	S	302	L	S302L	Pathogenic	1	1	13	9
MUT:SMS:Tyr328Cys	PROT:P52788	SMS	Y	328	C	Y328C	Pathogenic	1	1	13	17
MUT:SMS:Val132Gly	PROT:P52788	SMS	V	132	G	V132G	Pathogenic	1	1	13	2
MUT:SMS:Val194Gly	PROT:P52788	SMS	V	194	G	V194G	Likely pathogenic	1	1	13	2
MUT:SMS:Val225Ala	PROT:P52788	SMS	V	225	A	V225A	Likely pathogenic	1	1	13	10
MUT:SMURF2:Asn105Ser	PROT:Q9HAU4	SMURF2	N	105	S	N105S	Benign	0	12	6	39
MUT:SMURF2:Asn292Ser	PROT:Q9HAU4	SMURF2	N	292	S	N292S	Benign	0	1	6	43
MUT:SMURF2:Thr616Ala	PROT:Q9HAU4	SMURF2	T	616	A	T616A	Likely benign	0	1	6	114
MUT:SNAI2:Ala122Val	PROT:O43623	SNAI2	A	122	V	A122V	Benign/Likely benign	0	2	13	6
MUT:SNAP25:Ala185Pro	PROT:P60880	SNAP25	A	185	P	A185P	Likely pathogenic	1	1	8	2
MUT:SNAP25:Ala199Glu	PROT:P60880	SNAP25	A	199	E	A199E	Pathogenic/Likely pathogenic	1	2	8	12
MUT:SNAP25:Ala199Gly	PROT:P60880	SNAP25	A	199	G	A199G	Pathogenic/Likely pathogenic	1	2	8	12
MUT:SNAP25:Ala5Thr	PROT:P60880	SNAP25	A	5	T	A5T	Benign/Likely benign	0	1	8	23
MUT:SNAP25:Arg198Pro	PROT:P60880	SNAP25	R	198	P	R198P	Likely pathogenic	1	3	8	11
MUT:SNAP25:Asn9Ser	PROT:P60880	SNAP25	N	9	S	N9S	Benign	0	1	8	19
MUT:SNAP25:Asp166Gly	PROT:P60880	SNAP25	D	166	G	D166G	Likely pathogenic	1	1	8	12
MUT:SNAP25:Asp166Tyr	PROT:P60880	SNAP25	D	166	Y	D166Y	Likely pathogenic	1	2	8	12
MUT:SNAP25:Gln174Pro	PROT:P60880	SNAP25	Q	174	P	Q174P	Likely pathogenic	1	1	8	13
MUT:SNAP25:Glu143Gln	PROT:P60880	SNAP25	E	143	Q	E143Q	Likely benign	0	1	8	5
MUT:SNAP25:Gly111Arg	PROT:P60880	SNAP25	G	111	R	G111R	Likely benign	0	1	8	8
MUT:SNAP25:Gly132Ser	PROT:P60880	SNAP25	G	132	S	G132S	Likely benign	0	1	8	6
MUT:SNAP25:Gly158Arg	PROT:P60880	SNAP25	G	158	R	G158R	Likely benign	0	1	8	4
MUT:SNAP25:Gly43Arg	PROT:P60880	SNAP25	G	43	R	G43R	Pathogenic/Likely pathogenic	1	3	8	14
MUT:SNAP25:Ile181Asn	PROT:P60880	SNAP25	I	181	N	I181N	Likely pathogenic	1	1	8	6
MUT:SNAP25:Ile192Thr	PROT:P60880	SNAP25	I	192	T	I192T	Likely pathogenic	1	1	8	5
MUT:SNAP25:Ile67Asn	PROT:P60880	SNAP25	I	67	N	I67N	Pathogenic/Likely pathogenic	1	2	8	2
MUT:SNAP25:Leu50Ser	PROT:P60880	SNAP25	L	50	S	L50S	Likely pathogenic	1	1	8	19
MUT:SNAP25:Leu57Arg	PROT:P60880	SNAP25	L	57	R	L57R	Likely pathogenic	1	1	8	12
MUT:SNAP25:Leu57Pro	PROT:P60880	SNAP25	L	57	P	L57P	Likely pathogenic	1	1	8	12
MUT:SNAP25:Lys40Glu	PROT:P60880	SNAP25	K	40	E	K40E	Likely pathogenic	1	2	8	11
MUT:SNAP25:Met71Thr	PROT:P60880	SNAP25	M	71	T	M71T	Pathogenic/Likely pathogenic	1	2	8	1
MUT:SNAP25:Ser25Leu	PROT:P60880	SNAP25	S	25	L	S25L	Likely pathogenic	1	1	8	3
MUT:SNAP25:Ser98Gly	PROT:P60880	SNAP25	S	98	G	S98G	Benign	0	1	8	5
MUT:SNAP25:Val48Phe	PROT:P60880	SNAP25	V	48	F	V48F	Likely pathogenic	1	1	8	19
MUT:SNAP29:Asp40Tyr	PROT:O95721	SNAP29	D	40	Y	D40Y	Likely pathogenic	1	1	27	23
MUT:SNAP29:Glu89Lys	PROT:O95721	SNAP29	E	89	K	E89K	Benign/Likely benign	0	2	27	11
MUT:SNAP29:Met1Thr	PROT:O95721	SNAP29	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	27	62
MUT:SNAP29:Ser163Gly	PROT:O95721	SNAP29	S	163	G	S163G	Benign/Likely benign	0	1	27	0
MUT:SNAP29:Tyr44His	PROT:O95721	SNAP29	Y	44	H	Y44H	Benign/Likely benign	0	1	27	19
MUT:SNAPC5:Thr75Ala	PROT:O75971	SNAPC5	T	75	A	T75A	Likely benign	0	1	1	10
MUT:SNCA:Ala30Pro	PROT:P37840	SNCA	A	30	P	A30P	Likely pathogenic	1	1	17	2
MUT:SNCA:Ala53Thr	PROT:P37840	SNCA	A	53	T	A53T	Pathogenic	1	2	17	5
MUT:SNCA:Glu46Lys	PROT:P37840	SNCA	E	46	K	E46K	Pathogenic	1	1	17	3
MUT:SNCA:Gly51Asp	PROT:P37840	SNCA	G	51	D	G51D	Pathogenic	1	1	17	7
MUT:SNCA:Lys96Arg	PROT:P37840	SNCA	K	96	R	K96R	Benign/Likely benign	0	2	17	0
MUT:SNCAIP:Arg269Gln	PROT:Q9Y6H5	SNCAIP	R	269	Q	R269Q	Likely benign	0	1	14	8
MUT:SNCAIP:Arg621Cys	PROT:Q9Y6H5	SNCAIP	R	621	C	R621C	Likely benign	0	2	14	55
MUT:SNCAIP:Arg806His	PROT:Q9Y6H5	SNCAIP	R	806	H	R806H	Benign	0	1	14	70
MUT:SNCAIP:Asn203Ser	PROT:Q9Y6H5	SNCAIP	N	203	S	N203S	Likely benign	0	1	14	8
MUT:SNCAIP:Glu709Gln	PROT:Q9Y6H5	SNCAIP	E	709	Q	E709Q	Benign/Likely benign	0	1	14	16
MUT:SNCAIP:Met711Val	PROT:Q9Y6H5	SNCAIP	M	711	V	M711V	Benign	0	1	14	14
MUT:SNCAIP:Pro764Leu	PROT:Q9Y6H5	SNCAIP	P	764	L	P764L	Likely benign	0	1	14	28
MUT:SNCAIP:Ser222Leu	PROT:Q9Y6H5	SNCAIP	S	222	L	S222L	Likely benign	0	1	14	7
MUT:SND1:Glu624Ala	PROT:Q7KZF4	SND1	E	624	A	E624A	Likely benign	0	1	50	17
MUT:SNF8:Arg208Leu	PROT:Q96H20	SNF8	R	208	L	R208L	Pathogenic	1	2	4	5
MUT:SNF8:Gly191Asp	PROT:Q96H20	SNF8	G	191	D	G191D	Pathogenic	1	2	4	12
MUT:SNF8:Pro79Leu	PROT:Q96H20	SNF8	P	79	L	P79L	Pathogenic	1	3	4	26
MUT:SNRNP200:Ala1995Thr	PROT:O75643	SNRNP200	A	1995	T	A1995T	Benign/Likely benign	0	2	62	7
MUT:SNRNP200:Ala542Val	PROT:O75643	SNRNP200	A	542	V	A542V	Likely pathogenic	1	1	62	2
MUT:SNRNP200:Ala787Thr	PROT:O75643	SNRNP200	A	787	T	A787T	Pathogenic/Likely pathogenic	1	3	62	8
MUT:SNRNP200:Ala813Val	PROT:O75643	SNRNP200	A	813	V	A813V	Likely pathogenic	1	1	62	18
MUT:SNRNP200:Arg1090Leu	PROT:O75643	SNRNP200	R	1090	L	R1090L	Pathogenic	1	1	62	44
MUT:SNRNP200:Arg681Cys	PROT:O75643	SNRNP200	R	681	C	R681C	Pathogenic/Likely pathogenic	1	3	62	30
MUT:SNRNP200:Arg681His	PROT:O75643	SNRNP200	R	681	H	R681H	Pathogenic/Likely pathogenic	1	4	62	30
MUT:SNRNP200:Arg681Leu	PROT:O75643	SNRNP200	R	681	L	R681L	Likely pathogenic	1	1	62	30
MUT:SNRNP200:Asn1002Ser	PROT:O75643	SNRNP200	N	1002	S	N1002S	Benign/Likely benign	0	3	62	31
MUT:SNRNP200:Asn995Ser	PROT:O75643	SNRNP200	N	995	S	N995S	Benign/Likely benign	0	1	62	24
MUT:SNRNP200:Asp1323Glu	PROT:O75643	SNRNP200	D	1323	E	D1323E	Likely benign	0	1	62	2
MUT:SNRNP200:Gln885Glu	PROT:O75643	SNRNP200	Q	885	E	Q885E	Pathogenic	1	1	62	59
MUT:SNRNP200:Glu568Asp	PROT:O75643	SNRNP200	E	568	D	E568D	Likely pathogenic	1	1	62	11
MUT:SNRNP200:Gly1978Ala	PROT:O75643	SNRNP200	G	1978	A	G1978A	Benign	0	1	62	6
MUT:SNRNP200:Gly1978Val	PROT:O75643	SNRNP200	G	1978	V	G1978V	Benign	0	1	62	6
MUT:SNRNP200:Met387Val	PROT:O75643	SNRNP200	M	387	V	M387V	Benign/Likely benign	0	1	62	2
MUT:SNRNP200:Pro682Ser	PROT:O75643	SNRNP200	P	682	S	P682S	Pathogenic/Likely pathogenic	1	1	62	29
MUT:SNRNP200:Ser1087Leu	PROT:O75643	SNRNP200	S	1087	L	S1087L	Pathogenic	1	3	62	47
MUT:SNRNP200:Thr934Ala	PROT:O75643	SNRNP200	T	934	A	T934A	Benign/Likely benign	0	3	62	10
MUT:SNRNP200:Thr934Pro	PROT:O75643	SNRNP200	T	934	P	T934P	Likely pathogenic	1	1	62	10
MUT:SNRNP200:Tyr689Cys	PROT:O75643	SNRNP200	Y	689	C	Y689C	Pathogenic/Likely pathogenic	1	1	62	22
MUT:SNRNP200:Val1389Ile	PROT:O75643	SNRNP200	V	1389	I	V1389I	Benign/Likely benign	0	1	62	15
MUT:SNRNP200:Val661Ile	PROT:O75643	SNRNP200	V	661	I	V661I	Benign	0	1	62	50
MUT:SNRNP200:Val683Leu	PROT:O75643	SNRNP200	V	683	L	V683L	Pathogenic	1	1	62	28
MUT:SNX10:Arg51Gln	PROT:Q9Y5X0	SNX10	R	51	Q	R51Q	Pathogenic	1	1	1	28
MUT:SNX14:Gln88His	PROT:Q9Y5W7	SNX14	Q	88	H	Q88H	Benign	0	4	13	104
MUT:SNX14:Glu370Lys	PROT:Q9Y5W7	SNX14	E	370	K	E370K	Pathogenic	1	1	13	32
MUT:SNX14:Ile270Leu	PROT:Q9Y5W7	SNX14	I	270	L	I270L	Likely benign	0	1	13	43
MUT:SNX27:Arg330His	PROT:Q96L92	SNX27	R	330	H	R330H	Likely pathogenic	1	1	16	10
MUT:SNX27:Asp386His	PROT:Q96L92	SNX27	D	386	H	D386H	Likely benign	0	2	16	6
MUT:SNX27:Cys432Tyr	PROT:Q96L92	SNX27	C	432	Y	C432Y	Pathogenic	1	1	16	28
MUT:SNX27:Gly271Asp	PROT:Q96L92	SNX27	G	271	D	G271D	Likely benign	0	1	16	26
MUT:SNX27:Ile343Val	PROT:Q96L92	SNX27	I	343	V	I343V	Likely benign	0	1	16	3
MUT:SNX27:Met258Val	PROT:Q96L92	SNX27	M	258	V	M258V	Likely benign	0	1	16	13
MUT:SNX27:Met310Thr	PROT:Q96L92	SNX27	M	310	T	M310T	Pathogenic	1	1	16	30
MUT:SNX27:Val323Met	PROT:Q96L92	SNX27	V	323	M	V323M	Benign/Likely benign	0	2	16	17
MUT:SOHLH2:Ala339Thr	PROT:Q9NX45	SOHLH2	A	339	T	A339T	Benign	0	1	3	196
MUT:SOHLH2:Val231Ile	PROT:Q9NX45	SOHLH2	V	231	I	V231I	Likely benign	0	1	3	88
MUT:SORD:Ala121Pro	PROT:Q00796	SORD	A	121	P	A121P	Likely pathogenic	1	1	10	13
MUT:SORD:Ala153Asp	PROT:Q00796	SORD	A	153	D	A153D	Pathogenic/Likely pathogenic	1	1	10	19
MUT:SORD:Ala259Val	PROT:Q00796	SORD	A	259	V	A259V	Pathogenic/Likely pathogenic	1	1	10	36
MUT:SORD:Asn269Thr	PROT:Q00796	SORD	N	269	T	N269T	Benign	0	1	10	26
MUT:SORD:Leu284Pro	PROT:Q00796	SORD	L	284	P	L284P	Pathogenic	1	1	10	11
MUT:SORD:Ser82Leu	PROT:Q00796	SORD	S	82	L	S82L	Likely benign	0	1	10	2
MUT:SORD:Val282Ile	PROT:Q00796	SORD	V	282	I	V282I	Likely benign	0	1	10	13
MUT:SORL1:Arg46Gly	PROT:Q92673	SORL1	R	46	G	R46G	Likely benign	0	1	18	68
MUT:SORL1:Asn1809Ser	PROT:Q92673	SORL1	N	1809	S	N1809S	Likely benign	0	3	18	65
MUT:SORL1:Asn371Thr	PROT:Q92673	SORL1	N	371	T	N371T	Benign/Likely benign	0	1	18	42
MUT:SORL1:Asp2065Val	PROT:Q92673	SORL1	D	2065	V	D2065V	Likely benign	0	1	18	118
MUT:SORL1:Asp734Asn	PROT:Q92673	SORL1	D	734	N	D734N	Benign	0	1	18	4
MUT:SORL1:Gly1536Ser	PROT:Q92673	SORL1	G	1536	S	G1536S	Benign	0	1	18	44
MUT:SORL1:Ile1116Val	PROT:Q92673	SORL1	I	1116	V	I1116V	Benign/Likely benign	0	1	18	331
MUT:SORL1:Leu960Val	PROT:Q92673	SORL1	L	960	V	L960V	Likely pathogenic	1	1	18	175
MUT:SORL1:Thr1483Ala	PROT:Q92673	SORL1	T	1483	A	T1483A	Benign	0	1	18	6
MUT:SOX17:Arg138Pro	PROT:Q9H6I2	SOX17	R	138	P	R138P	Likely pathogenic	1	1	1	164
MUT:SOX17:Arg69Gln	PROT:Q9H6I2	SOX17	R	69	Q	R69Q	Likely pathogenic	1	1	1	233
MUT:SOX17:Arg70Gly	PROT:Q9H6I2	SOX17	R	70	G	R70G	Likely pathogenic	1	1	1	232
MUT:SOX17:Glu152Asp	PROT:Q9H6I2	SOX17	E	152	D	E152D	Likely benign	0	1	1	150
MUT:SOX17:Glu82Gly	PROT:Q9H6I2	SOX17	E	82	G	E82G	Likely pathogenic	1	1	1	220
MUT:SOX17:Gly304Glu	PROT:Q9H6I2	SOX17	G	304	E	G304E	Likely benign	0	1	1	2
MUT:SOX17:Tyr259Asn	PROT:Q9H6I2	SOX17	Y	259	N	Y259N	Benign/Likely benign	0	2	1	43
MUT:SOX3:Arg5Gln	PROT:P41225	SOX3	R	5	Q	R5Q	Benign/Likely benign	0	1	2	374
MUT:SOX3:Ile26Thr	PROT:P41225	SOX3	I	26	T	I26T	Benign	0	1	2	353
MUT:SOX3:Ser150Tyr	PROT:P41225	SOX3	S	150	Y	S150Y	Likely pathogenic	1	1	2	229
MUT:SOX3:Val53Leu	PROT:P41225	SOX3	V	53	L	V53L	Benign/Likely benign	0	3	2	326
MUT:SOX5:Ala228Val	PROT:P35711	SOX5	A	228	V	A228V	Likely benign	0	1	27	37
MUT:SOX5:Ala327Thr	PROT:P35711	SOX5	A	327	T	A327T	Likely benign	0	1	27	43
MUT:SOX5:Ala328Ser	PROT:P35711	SOX5	A	328	S	A328S	Likely benign	0	1	27	42
MUT:SOX5:Ala567Pro	PROT:P35711	SOX5	A	567	P	A567P	Likely pathogenic	1	1	27	27
MUT:SOX5:Ala680Thr	PROT:P35711	SOX5	A	680	T	A680T	Likely benign	0	1	27	61
MUT:SOX5:Arg235His	PROT:P35711	SOX5	R	235	H	R235H	Likely benign	0	1	27	44
MUT:SOX5:Arg558Cys	PROT:P35711	SOX5	R	558	C	R558C	Pathogenic/Likely pathogenic	1	1	27	18
MUT:SOX5:Arg558His	PROT:P35711	SOX5	R	558	H	R558H	Pathogenic/Likely pathogenic	1	1	27	18
MUT:SOX5:Arg571Gln	PROT:P35711	SOX5	R	571	Q	R571Q	Pathogenic/Likely pathogenic	1	1	27	31
MUT:SOX5:Arg571Trp	PROT:P35711	SOX5	R	571	W	R571W	Pathogenic/Likely pathogenic	1	1	27	31
MUT:SOX5:Arg611Gly	PROT:P35711	SOX5	R	611	G	R611G	Likely pathogenic	1	1	27	8
MUT:SOX5:Asn561His	PROT:P35711	SOX5	N	561	H	N561H	Likely pathogenic	1	1	27	21
MUT:SOX5:Asp740Asn	PROT:P35711	SOX5	D	740	N	D740N	Likely benign	0	1	27	121
MUT:SOX5:Gln223Arg	PROT:P35711	SOX5	Q	223	R	Q223R	Likely benign	0	1	27	32
MUT:SOX5:Gln268His	PROT:P35711	SOX5	Q	268	H	Q268H	Likely benign	0	1	27	77
MUT:SOX5:Gly591Arg	PROT:P35711	SOX5	G	591	R	G591R	Pathogenic/Likely pathogenic	1	1	27	28
MUT:SOX5:Gly94Val	PROT:P35711	SOX5	G	94	V	G94V	Likely benign	0	1	27	14
MUT:SOX5:Ile709Met	PROT:P35711	SOX5	I	709	M	I709M	Likely benign	0	1	27	90
MUT:SOX5:Met203Val	PROT:P35711	SOX5	M	203	V	M203V	Likely benign	0	1	27	12
MUT:SOX5:Met564Thr	PROT:P35711	SOX5	M	564	T	M564T	Pathogenic/Likely pathogenic	1	1	27	24
MUT:SOX5:Met597Val	PROT:P35711	SOX5	M	597	V	M597V	Likely pathogenic	1	1	27	22
MUT:SOX5:Pro22Leu	PROT:P35711	SOX5	P	22	L	P22L	Likely benign	0	1	27	1
MUT:SOX5:Pro276Ser	PROT:P35711	SOX5	P	276	S	P276S	Likely benign	0	1	27	85
MUT:SOX5:Ser587Asn	PROT:P35711	SOX5	S	587	N	S587N	Likely pathogenic	1	1	27	32
MUT:SOX5:Ser587Cys	PROT:P35711	SOX5	S	587	C	S587C	Likely pathogenic	1	1	27	32
MUT:SOX5:Thr413Ile	PROT:P35711	SOX5	T	413	I	T413I	Likely benign	0	1	27	0
MUT:SOX5:Thr632Asn	PROT:P35711	SOX5	T	632	N	T632N	Likely pathogenic	1	2	27	13
MUT:SOX5:Thr712Ala	PROT:P35711	SOX5	T	712	A	T712A	Likely benign	0	1	27	93
MUT:SOX5:Tyr543Cys	PROT:P35711	SOX5	Y	543	C	Y543C	Likely benign	0	1	27	3
MUT:SOX5:Tyr605Cys	PROT:P35711	SOX5	Y	605	C	Y605C	Pathogenic	1	1	27	14
MUT:SOX5:Tyr605Ser	PROT:P35711	SOX5	Y	605	S	Y605S	Likely pathogenic	1	1	27	14
MUT:SOX5:Tyr623Cys	PROT:P35711	SOX5	Y	623	C	Y623C	Pathogenic	1	1	27	4
MUT:SOX5:Tyr623His	PROT:P35711	SOX5	Y	623	H	Y623H	Likely pathogenic	1	1	27	4
MUT:SOX5:Val565Glu	PROT:P35711	SOX5	V	565	E	V565E	Likely pathogenic	1	1	27	25
MUT:SOX6:Ala434Val	PROT:P35712	SOX6	A	434	V	A434V	Benign/Likely benign	0	1	11	8
MUT:SOX6:Ala6Val	PROT:P35712	SOX6	A	6	V	A6V	Likely benign	0	1	11	105
MUT:SOX6:Arg277Gln	PROT:P35712	SOX6	R	277	Q	R277Q	Likely benign	0	1	11	76
MUT:SOX6:Arg345Cys	PROT:P35712	SOX6	R	345	C	R345C	Likely benign	0	1	11	8
MUT:SOX6:Arg623Gln	PROT:P35712	SOX6	R	623	Q	R623Q	Pathogenic/Likely pathogenic	1	1	11	68
MUT:SOX6:Asp18Glu	PROT:P35712	SOX6	D	18	E	D18E	Likely benign	0	1	11	93
MUT:SOX6:Gly179Ser	PROT:P35712	SOX6	G	179	S	G179S	Likely pathogenic	1	1	11	15
MUT:SOX6:Ile468Thr	PROT:P35712	SOX6	I	468	T	I468T	Likely benign	0	1	11	11
MUT:SOX6:Ile529Val	PROT:P35712	SOX6	I	529	V	I529V	Likely benign	0	1	11	50
MUT:SOX6:Lys155Thr	PROT:P35712	SOX6	K	155	T	K155T	Likely benign	0	1	11	4
MUT:SOX6:Met112Thr	PROT:P35712	SOX6	M	112	T	M112T	Likely benign	0	1	11	1
MUT:SOX6:Met625Thr	PROT:P35712	SOX6	M	625	T	M625T	Pathogenic	1	1	11	66
MUT:SOX6:Met794Ile	PROT:P35712	SOX6	M	794	I	M794I	Likely benign	0	1	11	103
MUT:SOX6:Pro692Ser	PROT:P35712	SOX6	P	692	S	P692S	Likely pathogenic	1	1	11	1
MUT:SOX6:Trp631Cys	PROT:P35712	SOX6	W	631	C	W631C	Likely pathogenic	1	1	11	60
MUT:SOX6:Trp659Arg	PROT:P35712	SOX6	W	659	R	W659R	Pathogenic	1	1	11	32
MUT:SOX7:Gly267Ser	PROT:Q9BT81	SOX7	G	267	S	G267S	Benign	0	1	3	101
MUT:SOX8:Pro11Leu	PROT:P57073	SOX8	P	11	L	P11L	Likely benign	0	1	8	108
MUT:SP140:Ile27Leu	PROT:Q13342	SP140	I	27	L	I27L	Pathogenic	1	1	9	250
MUT:SP4:Ala348Gly	PROT:Q02446	SP4	A	348	G	A348G	Likely benign	0	1	4	241
MUT:SPAG17:Arg143Gln	PROT:Q6Q759	SPAG17	R	143	Q	R143Q	Benign	0	1	4	737
MUT:SPAG17:Arg1448Gln	PROT:Q6Q759	SPAG17	R	1448	Q	R1448Q	Pathogenic	1	1	4	15
MUT:SPAG17:Arg1656Gln	PROT:Q6Q759	SPAG17	R	1656	Q	R1656Q	Likely benign	0	1	4	223
MUT:SPAG17:Arg2218His	PROT:Q6Q759	SPAG17	R	2218	H	R2218H	Likely benign	0	1	4	785
MUT:SPAG17:Arg946Leu	PROT:Q6Q759	SPAG17	R	946	L	R946L	Benign	0	1	4	57
MUT:SPAG17:Asp357His	PROT:Q6Q759	SPAG17	D	357	H	D357H	Likely pathogenic	1	2	4	523
MUT:SPAG17:Asp973Gly	PROT:Q6Q759	SPAG17	D	973	G	D973G	Likely benign	0	1	4	84
MUT:SPAG17:Gln562Glu	PROT:Q6Q759	SPAG17	Q	562	E	Q562E	Benign	0	1	4	318
MUT:SPAG17:Glu158Val	PROT:Q6Q759	SPAG17	E	158	V	E158V	Benign	0	1	4	722
MUT:SPAG17:His1844Tyr	PROT:Q6Q759	SPAG17	H	1844	Y	H1844Y	Likely benign	0	1	4	411
MUT:SPAG17:His2160Gln	PROT:Q6Q759	SPAG17	H	2160	Q	H2160Q	Benign	0	1	4	727
MUT:SPAG17:Leu2036Gln	PROT:Q6Q759	SPAG17	L	2036	Q	L2036Q	Benign	0	8	4	603
MUT:SPAG17:Lys1747Glu	PROT:Q6Q759	SPAG17	K	1747	E	K1747E	Benign	0	1	4	314
MUT:SPAG17:Phe1912Leu	PROT:Q6Q759	SPAG17	F	1912	L	F1912L	Likely benign	0	1	4	479
MUT:SPAG17:Pro1348Leu	PROT:Q6Q759	SPAG17	P	1348	L	P1348L	Benign	0	1	4	85
MUT:SPAG17:Thr1590Asn	PROT:Q6Q759	SPAG17	T	1590	N	T1590N	Likely benign	0	1	4	157
MUT:SPAG17:Val462Ile	PROT:Q6Q759	SPAG17	V	462	I	V462I	Likely benign	0	1	4	418
MUT:SPARC:Arg166His	PROT:P09486	SPARC	R	166	H	R166H	Pathogenic	1	1	1	32
MUT:SPARC:Glu263Lys	PROT:P09486	SPARC	E	263	K	E263K	Pathogenic	1	1	1	65
MUT:SPARC:Pro19Ser	PROT:P09486	SPARC	P	19	S	P19S	Benign	0	10	1	179
MUT:SPART:Ala290Val	PROT:Q8N0X7	SPART	A	290	V	A290V	Likely benign	0	1	36	67
MUT:SPART:Ala442Pro	PROT:Q8N0X7	SPART	A	442	P	A442P	Likely pathogenic	1	1	36	2
MUT:SPART:Glu200Asp	PROT:Q8N0X7	SPART	E	200	D	E200D	Likely benign	0	1	36	86
MUT:SPART:Gly70Glu	PROT:Q8N0X7	SPART	G	70	E	G70E	Likely benign	0	1	36	8
MUT:SPART:Val599Leu	PROT:Q8N0X7	SPART	V	599	L	V599L	Likely benign	0	1	36	16
MUT:SPART:Val647Met	PROT:Q8N0X7	SPART	V	647	M	V647M	Likely benign	0	1	36	4
MUT:SPAST:Ala104Pro	PROT:Q9UBP0	SPAST	A	104	P	A104P	Likely benign	0	1	30	1
MUT:SPAST:Ala285Thr	PROT:Q9UBP0	SPAST	A	285	T	A285T	Likely benign	0	1	30	7
MUT:SPAST:Ala30Val	PROT:Q9UBP0	SPAST	A	30	V	A30V	Likely benign	0	1	30	63
MUT:SPAST:Ala394Glu	PROT:Q9UBP0	SPAST	A	394	E	A394E	Pathogenic	1	1	30	27
MUT:SPAST:Ala408Asp	PROT:Q9UBP0	SPAST	A	408	D	A408D	Likely pathogenic	1	1	30	13
MUT:SPAST:Ala409Glu	PROT:Q9UBP0	SPAST	A	409	E	A409E	Pathogenic	1	1	30	12
MUT:SPAST:Ala409Thr	PROT:Q9UBP0	SPAST	A	409	T	A409T	Pathogenic/Likely pathogenic	1	1	30	12
MUT:SPAST:Ala409Val	PROT:Q9UBP0	SPAST	A	409	V	A409V	Pathogenic	1	1	30	12
MUT:SPAST:Ala425Pro	PROT:Q9UBP0	SPAST	A	425	P	A425P	Pathogenic	1	1	30	4
MUT:SPAST:Ala485Thr	PROT:Q9UBP0	SPAST	A	485	T	A485T	Likely pathogenic	1	1	30	34
MUT:SPAST:Ala495Thr	PROT:Q9UBP0	SPAST	A	495	T	A495T	Pathogenic	1	2	30	24
MUT:SPAST:Ala495Val	PROT:Q9UBP0	SPAST	A	495	V	A495V	Pathogenic/Likely pathogenic	1	1	30	24
MUT:SPAST:Ala556Thr	PROT:Q9UBP0	SPAST	A	556	T	A556T	Likely pathogenic	1	1	30	2
MUT:SPAST:Ala556Val	PROT:Q9UBP0	SPAST	A	556	V	A556V	Pathogenic	1	1	30	2
MUT:SPAST:Ala557Gly	PROT:Q9UBP0	SPAST	A	557	G	A557G	Likely pathogenic	1	1	30	3
MUT:SPAST:Arg221Cys	PROT:Q9UBP0	SPAST	R	221	C	R221C	Likely benign	0	1	30	14
MUT:SPAST:Arg23Lys	PROT:Q9UBP0	SPAST	R	23	K	R23K	Benign/Likely benign	0	2	30	70
MUT:SPAST:Arg309His	PROT:Q9UBP0	SPAST	R	309	H	R309H	Benign/Likely benign	0	1	30	3
MUT:SPAST:Arg364Met	PROT:Q9UBP0	SPAST	R	364	M	R364M	Likely pathogenic	1	1	30	42
MUT:SPAST:Arg364Thr	PROT:Q9UBP0	SPAST	R	364	T	R364T	Likely pathogenic	1	1	30	42
MUT:SPAST:Arg424Ser	PROT:Q9UBP0	SPAST	R	424	S	R424S	Likely pathogenic	1	1	30	3
MUT:SPAST:Arg424Thr	PROT:Q9UBP0	SPAST	R	424	T	R424T	Pathogenic/Likely pathogenic	1	1	30	3
MUT:SPAST:Arg450Gly	PROT:Q9UBP0	SPAST	R	450	G	R450G	Pathogenic/Likely pathogenic	1	1	30	5
MUT:SPAST:Arg450Lys	PROT:Q9UBP0	SPAST	R	450	K	R450K	Pathogenic/Likely pathogenic	1	1	30	5
MUT:SPAST:Arg450Ser	PROT:Q9UBP0	SPAST	R	450	S	R450S	Likely pathogenic	1	1	30	5
MUT:SPAST:Arg459Gly	PROT:Q9UBP0	SPAST	R	459	G	R459G	Pathogenic	1	1	30	14
MUT:SPAST:Arg460Cys	PROT:Q9UBP0	SPAST	R	460	C	R460C	Pathogenic	1	2	30	15
MUT:SPAST:Arg460His	PROT:Q9UBP0	SPAST	R	460	H	R460H	Pathogenic/Likely pathogenic	1	2	30	15
MUT:SPAST:Arg460Leu	PROT:Q9UBP0	SPAST	R	460	L	R460L	Pathogenic	1	1	30	15
MUT:SPAST:Arg488Gly	PROT:Q9UBP0	SPAST	R	488	G	R488G	Pathogenic	1	1	30	31
MUT:SPAST:Arg498Gly	PROT:Q9UBP0	SPAST	R	498	G	R498G	Pathogenic/Likely pathogenic	1	1	30	21
MUT:SPAST:Arg498Met	PROT:Q9UBP0	SPAST	R	498	M	R498M	Likely pathogenic	1	1	30	21
MUT:SPAST:Arg498Ser	PROT:Q9UBP0	SPAST	R	498	S	R498S	Pathogenic	1	1	30	21
MUT:SPAST:Arg498Thr	PROT:Q9UBP0	SPAST	R	498	T	R498T	Likely pathogenic	1	1	30	21
MUT:SPAST:Arg499Cys	PROT:Q9UBP0	SPAST	R	499	C	R499C	Pathogenic/Likely pathogenic	1	3	30	20
MUT:SPAST:Arg499His	PROT:Q9UBP0	SPAST	R	499	H	R499H	Pathogenic/Likely pathogenic	1	4	30	20
MUT:SPAST:Arg499Leu	PROT:Q9UBP0	SPAST	R	499	L	R499L	Likely pathogenic	1	1	30	20
MUT:SPAST:Arg503Trp	PROT:Q9UBP0	SPAST	R	503	W	R503W	Pathogenic/Likely pathogenic	1	2	30	16
MUT:SPAST:Arg514Gly	PROT:Q9UBP0	SPAST	R	514	G	R514G	Pathogenic	1	1	30	5
MUT:SPAST:Arg562Gln	PROT:Q9UBP0	SPAST	R	562	Q	R562Q	Pathogenic/Likely pathogenic	1	3	30	8
MUT:SPAST:Arg562Gly	PROT:Q9UBP0	SPAST	R	562	G	R562G	Pathogenic	1	1	30	8
MUT:SPAST:Arg562Pro	PROT:Q9UBP0	SPAST	R	562	P	R562P	Pathogenic	1	1	30	8
MUT:SPAST:Arg581Gln	PROT:Q9UBP0	SPAST	R	581	Q	R581Q	Benign/Likely benign	0	1	30	14
MUT:SPAST:Asn319Tyr	PROT:Q9UBP0	SPAST	N	319	Y	N319Y	Pathogenic	1	1	30	3
MUT:SPAST:Asn386Lys	PROT:Q9UBP0	SPAST	N	386	K	N386K	Likely pathogenic	1	1	30	35
MUT:SPAST:Asn386Ser	PROT:Q9UBP0	SPAST	N	386	S	N386S	Pathogenic	1	2	30	35
MUT:SPAST:Asn487Asp	PROT:Q9UBP0	SPAST	N	487	D	N487D	Likely pathogenic	1	1	30	32
MUT:SPAST:Asn487Ser	PROT:Q9UBP0	SPAST	N	487	S	N487S	Pathogenic	1	1	30	32
MUT:SPAST:Asp441Gly	PROT:Q9UBP0	SPAST	D	441	G	D441G	Pathogenic	1	2	30	4
MUT:SPAST:Asp441Val	PROT:Q9UBP0	SPAST	D	441	V	D441V	Likely pathogenic	1	1	30	4
MUT:SPAST:Asp470Val	PROT:Q9UBP0	SPAST	D	470	V	D470V	Pathogenic	1	1	30	25
MUT:SPAST:Asp493Tyr	PROT:Q9UBP0	SPAST	D	493	Y	D493Y	Likely pathogenic	1	1	30	26
MUT:SPAST:Asp548His	PROT:Q9UBP0	SPAST	D	548	H	D548H	Likely pathogenic	1	1	30	2
MUT:SPAST:Asp555Gly	PROT:Q9UBP0	SPAST	D	555	G	D555G	Pathogenic	1	1	30	1
MUT:SPAST:Asp613Gly	PROT:Q9UBP0	SPAST	D	613	G	D613G	Likely pathogenic	1	1	30	9
MUT:SPAST:Cys448Tyr	PROT:Q9UBP0	SPAST	C	448	Y	C448Y	Pathogenic	1	1	30	3
MUT:SPAST:Gln347Pro	PROT:Q9UBP0	SPAST	Q	347	P	Q347P	Pathogenic/Likely pathogenic	1	1	30	25
MUT:SPAST:Glu356Gly	PROT:Q9UBP0	SPAST	E	356	G	E356G	Pathogenic	1	1	30	34
MUT:SPAST:Glu356Lys	PROT:Q9UBP0	SPAST	E	356	K	E356K	Pathogenic/Likely pathogenic	1	1	30	34
MUT:SPAST:Glu418Gly	PROT:Q9UBP0	SPAST	E	418	G	E418G	Pathogenic	1	1	30	3
MUT:SPAST:Glu420Ala	PROT:Q9UBP0	SPAST	E	420	A	E420A	Likely pathogenic	1	1	30	1
MUT:SPAST:Glu420Asp	PROT:Q9UBP0	SPAST	E	420	D	E420D	Likely pathogenic	1	1	30	1
MUT:SPAST:Glu420Gln	PROT:Q9UBP0	SPAST	E	420	Q	E420Q	Pathogenic	1	1	30	1
MUT:SPAST:Glu420Gly	PROT:Q9UBP0	SPAST	E	420	G	E420G	Pathogenic	1	1	30	1
MUT:SPAST:Glu442Lys	PROT:Q9UBP0	SPAST	E	442	K	E442K	Likely pathogenic	1	1	30	3
MUT:SPAST:Glu442Val	PROT:Q9UBP0	SPAST	E	442	V	E442V	Likely pathogenic	1	1	30	3
MUT:SPAST:Glu454Gly	PROT:Q9UBP0	SPAST	E	454	G	E454G	Likely pathogenic	1	1	30	9
MUT:SPAST:Glu454Lys	PROT:Q9UBP0	SPAST	E	454	K	E454K	Pathogenic	1	1	30	9
MUT:SPAST:Glu464Ala	PROT:Q9UBP0	SPAST	E	464	A	E464A	Likely pathogenic	1	1	30	19
MUT:SPAST:Glu491Gly	PROT:Q9UBP0	SPAST	E	491	G	E491G	Pathogenic	1	1	30	28
MUT:SPAST:Glu512Asp	PROT:Q9UBP0	SPAST	E	512	D	E512D	Pathogenic/Likely pathogenic	1	2	30	7
MUT:SPAST:Gly346Val	PROT:Q9UBP0	SPAST	G	346	V	G346V	Likely pathogenic	1	1	30	24
MUT:SPAST:Gly377Glu	PROT:Q9UBP0	SPAST	G	377	E	G377E	Pathogenic/Likely pathogenic	1	1	30	44
MUT:SPAST:Gly385Glu	PROT:Q9UBP0	SPAST	G	385	E	G385E	Pathogenic	1	2	30	36
MUT:SPAST:Gly387Arg	PROT:Q9UBP0	SPAST	G	387	R	G387R	Likely pathogenic	1	1	30	34
MUT:SPAST:Gly387Val	PROT:Q9UBP0	SPAST	G	387	V	G387V	Likely pathogenic	1	1	30	34
MUT:SPAST:Gly417Glu	PROT:Q9UBP0	SPAST	G	417	E	G417E	Pathogenic	1	1	30	4
MUT:SPAST:Gly417Val	PROT:Q9UBP0	SPAST	G	417	V	G417V	Pathogenic	1	1	30	4
MUT:SPAST:Gly471Asp	PROT:Q9UBP0	SPAST	G	471	D	G471D	Pathogenic	1	1	30	26
MUT:SPAST:Gly484Asp	PROT:Q9UBP0	SPAST	G	484	D	G484D	Likely pathogenic	1	1	30	35
MUT:SPAST:Gly546Arg	PROT:Q9UBP0	SPAST	G	546	R	G546R	Pathogenic	1	1	30	4
MUT:SPAST:Gly546Glu	PROT:Q9UBP0	SPAST	G	546	E	G546E	Pathogenic	1	1	30	4
MUT:SPAST:Gly546Val	PROT:Q9UBP0	SPAST	G	546	V	G546V	Likely pathogenic	1	3	30	4
MUT:SPAST:Gly559Arg	PROT:Q9UBP0	SPAST	G	559	R	G559R	Pathogenic/Likely pathogenic	1	1	30	5
MUT:SPAST:Gly559Asp	PROT:Q9UBP0	SPAST	G	559	D	G559D	Pathogenic/Likely pathogenic	1	2	30	5
MUT:SPAST:His289Tyr	PROT:Q9UBP0	SPAST	H	289	Y	H289Y	Benign/Likely benign	0	1	30	3
MUT:SPAST:His455Arg	PROT:Q9UBP0	SPAST	H	455	R	H455R	Likely pathogenic	1	1	30	10
MUT:SPAST:His455Tyr	PROT:Q9UBP0	SPAST	H	455	Y	H455Y	Pathogenic	1	1	30	10
MUT:SPAST:Ile328Thr	PROT:Q9UBP0	SPAST	I	328	T	I328T	Pathogenic	1	1	30	6
MUT:SPAST:Ile344Arg	PROT:Q9UBP0	SPAST	I	344	R	I344R	Likely pathogenic	1	1	30	22
MUT:SPAST:Ile344Lys	PROT:Q9UBP0	SPAST	I	344	K	I344K	Pathogenic	1	1	30	22
MUT:SPAST:Ile359Thr	PROT:Q9UBP0	SPAST	I	359	T	I359T	Likely pathogenic	1	1	30	37
MUT:SPAST:Ile406Val	PROT:Q9UBP0	SPAST	I	406	V	I406V	Pathogenic	1	2	30	15
MUT:SPAST:Ile580Val	PROT:Q9UBP0	SPAST	I	580	V	I580V	Likely pathogenic	1	1	30	15
MUT:SPAST:Ile592Arg	PROT:Q9UBP0	SPAST	I	592	R	I592R	Pathogenic	1	1	30	3
MUT:SPAST:Ile592Lys	PROT:Q9UBP0	SPAST	I	592	K	I592K	Pathogenic/Likely pathogenic	1	1	30	3
MUT:SPAST:Leu349Phe	PROT:Q9UBP0	SPAST	L	349	F	L349F	Pathogenic	1	1	30	27
MUT:SPAST:Leu371Arg	PROT:Q9UBP0	SPAST	L	371	R	L371R	Pathogenic/Likely pathogenic	1	1	30	49
MUT:SPAST:Leu371Phe	PROT:Q9UBP0	SPAST	L	371	F	L371F	Likely pathogenic	1	2	30	49
MUT:SPAST:Leu371Pro	PROT:Q9UBP0	SPAST	L	371	P	L371P	Pathogenic	1	1	30	49
MUT:SPAST:Leu378Gln	PROT:Q9UBP0	SPAST	L	378	Q	L378Q	Pathogenic	1	1	30	43
MUT:SPAST:Leu378Val	PROT:Q9UBP0	SPAST	L	378	V	L378V	Likely pathogenic	1	1	30	43
MUT:SPAST:Leu380Pro	PROT:Q9UBP0	SPAST	L	380	P	L380P	Likely pathogenic	1	1	30	41
MUT:SPAST:Leu422Phe	PROT:Q9UBP0	SPAST	L	422	F	L422F	Pathogenic	1	1	30	1
MUT:SPAST:Leu426Phe	PROT:Q9UBP0	SPAST	L	426	F	L426F	Pathogenic/Likely pathogenic	1	1	30	5
MUT:SPAST:Leu426Val	PROT:Q9UBP0	SPAST	L	426	V	L426V	Pathogenic	1	1	30	5
MUT:SPAST:Leu517Trp	PROT:Q9UBP0	SPAST	L	517	W	L517W	Pathogenic	1	1	30	2
MUT:SPAST:Leu521Pro	PROT:Q9UBP0	SPAST	L	521	P	L521P	Likely pathogenic	1	1	30	2
MUT:SPAST:Leu534Pro	PROT:Q9UBP0	SPAST	L	534	P	L534P	Pathogenic	1	1	30	2
MUT:SPAST:Leu549Gln	PROT:Q9UBP0	SPAST	L	549	Q	L549Q	Likely pathogenic	1	1	30	1
MUT:SPAST:Leu549Pro	PROT:Q9UBP0	SPAST	L	549	P	L549P	Likely pathogenic	1	1	30	1
MUT:SPAST:Lys290Asn	PROT:Q9UBP0	SPAST	K	290	N	K290N	Pathogenic	1	1	30	2
MUT:SPAST:Lys388Arg	PROT:Q9UBP0	SPAST	K	388	R	K388R	Pathogenic	1	1	30	33
MUT:SPAST:Lys388Asn	PROT:Q9UBP0	SPAST	K	388	N	K388N	Pathogenic	1	1	30	33
MUT:SPAST:Lys421Glu	PROT:Q9UBP0	SPAST	K	421	E	K421E	Likely pathogenic	1	1	30	0
MUT:SPAST:Lys462Gln	PROT:Q9UBP0	SPAST	K	462	Q	K462Q	Pathogenic	1	1	30	17
MUT:SPAST:Met253Ile	PROT:Q9UBP0	SPAST	M	253	I	M253I	Likely benign	0	1	30	1
MUT:SPAST:Met390Ile	PROT:Q9UBP0	SPAST	M	390	I	M390I	Pathogenic/Likely pathogenic	1	2	30	31
MUT:SPAST:Met390Lys	PROT:Q9UBP0	SPAST	M	390	K	M390K	Pathogenic	1	1	30	31
MUT:SPAST:Met390Val	PROT:Q9UBP0	SPAST	M	390	V	M390V	Pathogenic	1	1	30	31
MUT:SPAST:Phe368Ser	PROT:Q9UBP0	SPAST	F	368	S	F368S	Pathogenic/Likely pathogenic	1	1	30	46
MUT:SPAST:Phe381Leu	PROT:Q9UBP0	SPAST	F	381	L	F381L	Likely pathogenic	1	1	30	40
MUT:SPAST:Phe403Leu	PROT:Q9UBP0	SPAST	F	403	L	F403L	Likely pathogenic	1	1	30	18
MUT:SPAST:Phe469Val	PROT:Q9UBP0	SPAST	F	469	V	F469V	Pathogenic	1	1	30	24
MUT:SPAST:Phe585Ser	PROT:Q9UBP0	SPAST	F	585	S	F585S	Likely pathogenic	1	1	30	10
MUT:SPAST:Phe75Leu	PROT:Q9UBP0	SPAST	F	75	L	F75L	Likely benign	0	1	30	18
MUT:SPAST:Pro109Leu	PROT:Q9UBP0	SPAST	P	109	L	P109L	Likely benign	0	1	30	6
MUT:SPAST:Pro19Ala	PROT:Q9UBP0	SPAST	P	19	A	P19A	Likely pathogenic	1	1	30	74
MUT:SPAST:Pro22Ala	PROT:Q9UBP0	SPAST	P	22	A	P22A	Likely benign	0	1	30	71
MUT:SPAST:Pro22Ser	PROT:Q9UBP0	SPAST	P	22	S	P22S	Likely benign	0	1	30	71
MUT:SPAST:Pro34Thr	PROT:Q9UBP0	SPAST	P	34	T	P34T	Likely benign	0	1	30	59
MUT:SPAST:Pro361Ser	PROT:Q9UBP0	SPAST	P	361	S	P361S	Pathogenic	1	1	30	39
MUT:SPAST:Pro374Leu	PROT:Q9UBP0	SPAST	P	374	L	P374L	Pathogenic	1	1	30	47
MUT:SPAST:Pro383Arg	PROT:Q9UBP0	SPAST	P	383	R	P383R	Pathogenic	1	1	30	38
MUT:SPAST:Pro384Arg	PROT:Q9UBP0	SPAST	P	384	R	P384R	Pathogenic/Likely pathogenic	1	2	30	37
MUT:SPAST:Pro384Leu	PROT:Q9UBP0	SPAST	P	384	L	P384L	Pathogenic	1	1	30	37
MUT:SPAST:Pro40Leu	PROT:Q9UBP0	SPAST	P	40	L	P40L	Likely benign	0	1	30	53
MUT:SPAST:Pro435Leu	PROT:Q9UBP0	SPAST	P	435	L	P435L	Pathogenic	1	1	30	1
MUT:SPAST:Pro435Thr	PROT:Q9UBP0	SPAST	P	435	T	P435T	Likely pathogenic	1	1	30	1
MUT:SPAST:Pro489Leu	PROT:Q9UBP0	SPAST	P	489	L	P489L	Pathogenic/Likely pathogenic	1	2	30	30
MUT:SPAST:Pro509Ser	PROT:Q9UBP0	SPAST	P	509	S	P509S	Pathogenic/Likely pathogenic	1	2	30	10
MUT:SPAST:Pro97Thr	PROT:Q9UBP0	SPAST	P	97	T	P97T	Benign/Likely benign	0	2	30	4
MUT:SPAST:Ser17Arg	PROT:Q9UBP0	SPAST	S	17	R	S17R	Likely benign	0	1	30	76
MUT:SPAST:Ser322Asn	PROT:Q9UBP0	SPAST	S	322	N	S322N	Likely benign	0	1	30	0
MUT:SPAST:Ser362Cys	PROT:Q9UBP0	SPAST	S	362	C	S362C	Pathogenic	1	1	30	40
MUT:SPAST:Ser362Phe	PROT:Q9UBP0	SPAST	S	362	F	S362F	Pathogenic	1	1	30	40
MUT:SPAST:Ser399Leu	PROT:Q9UBP0	SPAST	S	399	L	S399L	Pathogenic/Likely pathogenic	1	1	30	22
MUT:SPAST:Ser399Trp	PROT:Q9UBP0	SPAST	S	399	W	S399W	Pathogenic	1	1	30	22
MUT:SPAST:Ser407Arg	PROT:Q9UBP0	SPAST	S	407	R	S407R	Pathogenic	1	1	30	14
MUT:SPAST:Ser407Asn	PROT:Q9UBP0	SPAST	S	407	N	S407N	Pathogenic/Likely pathogenic	1	1	30	14
MUT:SPAST:Ser413Leu	PROT:Q9UBP0	SPAST	S	413	L	S413L	Pathogenic	1	1	30	8
MUT:SPAST:Ser436Pro	PROT:Q9UBP0	SPAST	S	436	P	S436P	Pathogenic	1	1	30	0
MUT:SPAST:Ser436Tyr	PROT:Q9UBP0	SPAST	S	436	Y	S436Y	Pathogenic	1	1	30	0
MUT:SPAST:Ser445Arg	PROT:Q9UBP0	SPAST	S	445	R	S445R	Pathogenic	1	1	30	0
MUT:SPAST:Ser458Arg	PROT:Q9UBP0	SPAST	S	458	R	S458R	Pathogenic	1	1	30	13
MUT:SPAST:Ser545Leu	PROT:Q9UBP0	SPAST	S	545	L	S545L	Pathogenic/Likely pathogenic	1	1	30	5
MUT:SPAST:Thr165Ile	PROT:Q9UBP0	SPAST	T	165	I	T165I	Likely benign	0	1	30	40
MUT:SPAST:Thr287Ala	PROT:Q9UBP0	SPAST	T	287	A	T287A	Likely benign	0	1	30	5
MUT:SPAST:Thr389Ala	PROT:Q9UBP0	SPAST	T	389	A	T389A	Pathogenic	1	1	30	32
MUT:SPAST:Thr389Ile	PROT:Q9UBP0	SPAST	T	389	I	T389I	Pathogenic	1	1	30	32
MUT:SPAST:Thr486Ala	PROT:Q9UBP0	SPAST	T	486	A	T486A	Pathogenic	1	1	30	33
MUT:SPAST:Thr486Ile	PROT:Q9UBP0	SPAST	T	486	I	T486I	Pathogenic/Likely pathogenic	1	1	30	33
MUT:SPAST:Thr614Ile	PROT:Q9UBP0	SPAST	T	614	I	T614I	Pathogenic/Likely pathogenic	1	2	30	10
MUT:SPAST:Thr615Ile	PROT:Q9UBP0	SPAST	T	615	I	T615I	Pathogenic	1	1	30	11
MUT:SPAST:Tyr126Cys	PROT:Q9UBP0	SPAST	Y	126	C	Y126C	Likely benign	0	1	30	23
MUT:SPAST:Val162Ile	PROT:Q9UBP0	SPAST	V	162	I	V162I	Benign/Likely benign	0	3	30	43
MUT:SPAST:Val423Gly	PROT:Q9UBP0	SPAST	V	423	G	V423G	Likely pathogenic	1	1	30	2
MUT:SPATA7:Arg534Gln	PROT:Q9P0W8	SPATA7	R	534	Q	R534Q	Benign/Likely benign	0	3	8	65
MUT:SPATA7:Asp2Asn	PROT:Q9P0W8	SPATA7	D	2	N	D2N	Benign	0	3	8	102
MUT:SPATA7:Asp575Asn	PROT:Q9P0W8	SPATA7	D	575	N	D575N	Likely benign	0	1	8	106
MUT:SPATA7:Gln95Arg	PROT:Q9P0W8	SPATA7	Q	95	R	Q95R	Benign/Likely benign	0	2	8	9
MUT:SPATA7:Glu405Asp	PROT:Q9P0W8	SPATA7	E	405	D	E405D	Pathogenic	1	1	8	64
MUT:SPATA7:Gly324Glu	PROT:Q9P0W8	SPATA7	G	324	E	G324E	Benign/Likely benign	0	2	8	8
MUT:SPATA7:Leu122Phe	PROT:Q9P0W8	SPATA7	L	122	F	L122F	Benign/Likely benign	0	2	8	18
MUT:SPATA7:Met1Ile	PROT:Q9P0W8	SPATA7	M	1	I	M1I	Likely pathogenic	1	2	8	103
MUT:SPATA7:Phe119Leu	PROT:Q9P0W8	SPATA7	F	119	L	F119L	Benign/Likely benign	0	2	8	15
MUT:SPATA7:Pro525Ser	PROT:Q9P0W8	SPATA7	P	525	S	P525S	Benign	0	1	8	56
MUT:SPATA7:Ser165Asn	PROT:Q9P0W8	SPATA7	S	165	N	S165N	Benign/Likely benign	0	2	8	29
MUT:SPATA7:Ser218Leu	PROT:Q9P0W8	SPATA7	S	218	L	S218L	Likely benign	0	1	8	1
MUT:SPATA7:Thr292Ile	PROT:Q9P0W8	SPATA7	T	292	I	T292I	Likely benign	0	1	8	24
MUT:SPATA7:Val74Met	PROT:Q9P0W8	SPATA7	V	74	M	V74M	Benign	0	3	8	30
MUT:SPATA7:Val7Ile	PROT:Q9P0W8	SPATA7	V	7	I	V7I	Pathogenic	1	1	8	97
MUT:SPECC1:Met583Val	PROT:Q5M775	SPECC1	M	583	V	M583V	Likely pathogenic	1	1	75	65
MUT:SPEF2:Ala766Val	PROT:Q9C093	SPEF2	A	766	V	A766V	Likely benign	0	1	4	119
MUT:SPEF2:Ala904Val	PROT:Q9C093	SPEF2	A	904	V	A904V	Benign	0	1	4	19
MUT:SPEF2:Ala934Pro	PROT:Q9C093	SPEF2	A	934	P	A934P	Benign	0	1	4	48
MUT:SPEF2:Ala93Thr	PROT:Q9C093	SPEF2	A	93	T	A93T	Likely benign	0	1	4	84
MUT:SPEF2:Arg547Gln	PROT:Q9C093	SPEF2	R	547	Q	R547Q	Likely benign	0	1	4	142
MUT:SPEF2:Asn71His	PROT:Q9C093	SPEF2	N	71	H	N71H	Benign	0	1	4	106
MUT:SPEF2:Asp192Asn	PROT:Q9C093	SPEF2	D	192	N	D192N	Likely benign	0	1	4	15
MUT:SPEF2:Asp721His	PROT:Q9C093	SPEF2	D	721	H	D721H	Likely benign	0	1	4	164
MUT:SPEF2:Ile709Met	PROT:Q9C093	SPEF2	I	709	M	I709M	Benign	0	4	4	176
MUT:SPEF2:Ile861Val	PROT:Q9C093	SPEF2	I	861	V	I861V	Likely benign	0	1	4	24
MUT:SPEF2:Lys1482Asn	PROT:Q9C093	SPEF2	K	1482	N	K1482N	Benign	0	12	4	500
MUT:SPEF2:Met1023Ile	PROT:Q9C093	SPEF2	M	1023	I	M1023I	Likely benign	0	1	4	41
MUT:SPEF2:Met1267Leu	PROT:Q9C093	SPEF2	M	1267	L	M1267L	Likely benign	0	4	4	285
MUT:SPEF2:Met1479Ile	PROT:Q9C093	SPEF2	M	1479	I	M1479I	Likely benign	0	1	4	497
MUT:SPEF2:Pro1666Leu	PROT:Q9C093	SPEF2	P	1666	L	P1666L	Likely benign	0	1	4	684
MUT:SPEF2:Pro545Ser	PROT:Q9C093	SPEF2	P	545	S	P545S	Likely benign	0	2	4	140
MUT:SPEF2:Ser133Asn	PROT:Q9C093	SPEF2	S	133	N	S133N	Likely benign	0	1	4	44
MUT:SPEF2:Thr1332Ala	PROT:Q9C093	SPEF2	T	1332	A	T1332A	Likely benign	0	1	4	350
MUT:SPEF2:Tyr1416Cys	PROT:Q9C093	SPEF2	Y	1416	C	Y1416C	Likely benign	0	1	4	434
MUT:SPEF2:Val671Ile	PROT:Q9C093	SPEF2	V	671	I	V671I	Likely benign	0	1	4	214
MUT:SPEG:Ala1063Thr	PROT:Q15772	SPEG	A	1063	T	A1063T	Likely benign	0	1	4	685
MUT:SPEG:Ala1563Val	PROT:Q15772	SPEG	A	1563	V	A1563V	Benign/Likely benign	0	3	4	885
MUT:SPEG:Ala85Pro	PROT:Q15772	SPEG	A	85	P	A85P	Likely benign	0	1	4	293
MUT:SPEG:Arg1340Gln	PROT:Q15772	SPEG	R	1340	Q	R1340Q	Benign	0	1	4	962
MUT:SPEG:Arg1840Gln	PROT:Q15772	SPEG	R	1840	Q	R1840Q	Likely benign	0	1	4	608
MUT:SPEG:Arg2790Gly	PROT:Q15772	SPEG	R	2790	G	R2790G	Benign	0	1	4	159
MUT:SPEG:Arg443Gly	PROT:Q15772	SPEG	R	443	G	R443G	Likely benign	0	1	4	65
MUT:SPEG:Gln1473His	PROT:Q15772	SPEG	Q	1473	H	Q1473H	Benign	0	1	4	975
MUT:SPEG:Glu497Val	PROT:Q15772	SPEG	E	497	V	E497V	Benign	0	2	4	119
MUT:SPEG:Gly202Arg	PROT:Q15772	SPEG	G	202	R	G202R	Likely benign	0	1	4	176
MUT:SPEG:His3079Arg	PROT:Q15772	SPEG	H	3079	R	H3079R	Benign	0	1	4	130
MUT:SPEG:Ile2615Val	PROT:Q15772	SPEG	I	2615	V	I2615V	Likely benign	0	1	4	56
MUT:SPEG:Leu648Gln	PROT:Q15772	SPEG	L	648	Q	L648Q	Likely benign	0	1	4	270
MUT:SPEG:Phe2459Ser	PROT:Q15772	SPEG	F	2459	S	F2459S	Likely benign	0	1	4	11
MUT:SPEG:Pro1103Leu	PROT:Q15772	SPEG	P	1103	L	P1103L	Benign/Likely benign	0	1	4	725
MUT:SPEG:Pro1913Ser	PROT:Q15772	SPEG	P	1913	S	P1913S	Likely benign	0	1	4	535
MUT:SPEG:Pro2189Leu	PROT:Q15772	SPEG	P	2189	L	P2189L	Benign	0	1	4	259
MUT:SPEG:Pro2231His	PROT:Q15772	SPEG	P	2231	H	P2231H	Benign/Likely benign	0	1	4	217
MUT:SPEG:Pro2232His	PROT:Q15772	SPEG	P	2232	H	P2232H	Benign	0	1	4	216
MUT:SPEG:Pro2261Leu	PROT:Q15772	SPEG	P	2261	L	P2261L	Benign	0	1	4	187
MUT:SPEG:Pro2687Thr	PROT:Q15772	SPEG	P	2687	T	P2687T	Benign	0	3	4	128
MUT:SPEG:Pro2884Leu	PROT:Q15772	SPEG	P	2884	L	P2884L	Benign	0	1	4	65
MUT:SPEG:Thr1385Pro	PROT:Q15772	SPEG	T	1385	P	T1385P	Likely benign	0	1	4	1007
MUT:SPEG:Thr1907Ala	PROT:Q15772	SPEG	T	1907	A	T1907A	Likely benign	0	1	4	541
MUT:SPEG:Thr350Ala	PROT:Q15772	SPEG	T	350	A	T350A	Likely benign	0	1	4	28
MUT:SPG11:Ala1696Gly	PROT:Q96JI7	SPG11	A	1696	G	A1696G	Likely pathogenic	1	1	65	10
MUT:SPG11:Ala2334Pro	PROT:Q96JI7	SPG11	A	2334	P	A2334P	Pathogenic/Likely pathogenic	1	2	65	34
MUT:SPG11:Ala695Thr	PROT:Q96JI7	SPG11	A	695	T	A695T	Benign/Likely benign	0	4	65	17
MUT:SPG11:Ala8Gly	PROT:Q96JI7	SPG11	A	8	G	A8G	Likely benign	0	1	65	303
MUT:SPG11:Arg1563Gly	PROT:Q96JI7	SPG11	R	1563	G	R1563G	Benign/Likely benign	0	4	65	8
MUT:SPG11:Arg2034Gly	PROT:Q96JI7	SPG11	R	2034	G	R2034G	Benign	0	1	65	11
MUT:SPG11:Arg815Lys	PROT:Q96JI7	SPG11	R	815	K	R815K	Pathogenic/Likely pathogenic	1	1	65	4
MUT:SPG11:Arg945Gly	PROT:Q96JI7	SPG11	R	945	G	R945G	Pathogenic/Likely pathogenic	1	1	65	3
MUT:SPG11:Asn1104Ile	PROT:Q96JI7	SPG11	N	1104	I	N1104I	Likely benign	0	1	65	6
MUT:SPG11:Asn278Ser	PROT:Q96JI7	SPG11	N	278	S	N278S	Benign/Likely benign	0	9	65	33
MUT:SPG11:Asn557Ser	PROT:Q96JI7	SPG11	N	557	S	N557S	Likely benign	0	1	65	4
MUT:SPG11:Cys760Arg	PROT:Q96JI7	SPG11	C	760	R	C760R	Likely pathogenic	1	1	65	14
MUT:SPG11:Glu1023Gly	PROT:Q96JI7	SPG11	E	1023	G	E1023G	Likely benign	0	3	65	1
MUT:SPG11:Glu370Lys	PROT:Q96JI7	SPG11	E	370	K	E370K	Benign/Likely benign	0	4	65	20
MUT:SPG11:Ile2298Val	PROT:Q96JI7	SPG11	I	2298	V	I2298V	Benign/Likely benign	0	5	65	17
MUT:SPG11:Ile334Val	PROT:Q96JI7	SPG11	I	334	V	I334V	Likely benign	0	1	65	3
MUT:SPG11:Ile450Val	PROT:Q96JI7	SPG11	I	450	V	I450V	Benign/Likely benign	0	4	65	36
MUT:SPG11:Ile870Val	PROT:Q96JI7	SPG11	I	870	V	I870V	Pathogenic	1	2	65	6
MUT:SPG11:Leu114Phe	PROT:Q96JI7	SPG11	L	114	F	L114F	Likely benign	0	1	65	197
MUT:SPG11:Leu1794Pro	PROT:Q96JI7	SPG11	L	1794	P	L1794P	Pathogenic/Likely pathogenic	1	4	65	48
MUT:SPG11:Leu2300Pro	PROT:Q96JI7	SPG11	L	2300	P	L2300P	Pathogenic/Likely pathogenic	1	2	65	19
MUT:SPG11:Lys1641Asn	PROT:Q96JI7	SPG11	K	1641	N	K1641N	Benign/Likely benign	0	3	65	1
MUT:SPG11:Met2019Val	PROT:Q96JI7	SPG11	M	2019	V	M2019V	Likely benign	0	1	65	3
MUT:SPG11:Met22Val	PROT:Q96JI7	SPG11	M	22	V	M22V	Benign/Likely benign	0	4	65	289
MUT:SPG11:Met2393Thr	PROT:Q96JI7	SPG11	M	2393	T	M2393T	Likely benign	0	1	65	10
MUT:SPG11:Met325Val	PROT:Q96JI7	SPG11	M	325	V	M325V	Likely benign	0	1	65	1
MUT:SPG11:Phe1604Leu	PROT:Q96JI7	SPG11	F	1604	L	F1604L	Benign/Likely benign	0	4	65	26
MUT:SPG11:Phe463Ser	PROT:Q96JI7	SPG11	F	463	S	F463S	Benign	0	4	65	49
MUT:SPG11:Pro1411Ser	PROT:Q96JI7	SPG11	P	1411	S	P1411S	Likely benign	0	1	65	6
MUT:SPG11:Pro2390Ser	PROT:Q96JI7	SPG11	P	2390	S	P2390S	Likely benign	0	1	65	7
MUT:SPG11:Ser1142Pro	PROT:Q96JI7	SPG11	S	1142	P	S1142P	Likely benign	0	1	65	32
MUT:SPG11:Ser965Asn	PROT:Q96JI7	SPG11	S	965	N	S965N	Likely benign	0	1	65	9
MUT:SPG11:Tyr396Cys	PROT:Q96JI7	SPG11	Y	396	C	Y396C	Benign/Likely benign	0	3	65	18
MUT:SPG11:Val1270Asp	PROT:Q96JI7	SPG11	V	1270	D	V1270D	Pathogenic/Likely pathogenic	1	3	65	20
MUT:SPG11:Val2107Ile	PROT:Q96JI7	SPG11	V	2107	I	V2107I	Benign/Likely benign	0	4	65	8
MUT:SPG11:Val270Ile	PROT:Q96JI7	SPG11	V	270	I	V270I	Benign/Likely benign	0	5	65	41
MUT:SPG11:Val793Met	PROT:Q96JI7	SPG11	V	793	M	V793M	Benign/Likely benign	0	3	65	16
MUT:SPG7:Ala359Pro	PROT:Q9UQ90	SPG7	A	359	P	A359P	Pathogenic/Likely pathogenic	1	1	5	19
MUT:SPG7:Ala510Leu	PROT:Q9UQ90	SPG7	A	510	L	A510L	Pathogenic	1	1	5	109
MUT:SPG7:Ala510Val	PROT:Q9UQ90	SPG7	A	510	V	A510V	Pathogenic/Likely pathogenic	1	25	5	109
MUT:SPG7:Ala572Val	PROT:Q9UQ90	SPG7	A	572	V	A572V	Pathogenic	1	2	5	47
MUT:SPG7:Ala647Glu	PROT:Q9UQ90	SPG7	A	647	E	A647E	Pathogenic/Likely pathogenic	1	1	5	12
MUT:SPG7:Arg294His	PROT:Q9UQ90	SPG7	R	294	H	R294H	Benign	0	1	5	24
MUT:SPG7:Arg688Gln	PROT:Q9UQ90	SPG7	R	688	Q	R688Q	Benign	0	2	5	53
MUT:SPG7:Asn730Asp	PROT:Q9UQ90	SPG7	N	730	D	N730D	Benign/Likely benign	0	8	5	95
MUT:SPG7:Asp650Tyr	PROT:Q9UQ90	SPG7	D	650	Y	D650Y	Likely pathogenic	1	1	5	15
MUT:SPG7:Glu126Gln	PROT:Q9UQ90	SPG7	E	126	Q	E126Q	Pathogenic/Likely pathogenic	1	2	5	192
MUT:SPG7:Glu642Lys	PROT:Q9UQ90	SPG7	E	642	K	E642K	Likely benign	0	1	5	7
MUT:SPG7:Gly349Ser	PROT:Q9UQ90	SPG7	G	349	S	G349S	Pathogenic/Likely pathogenic	1	4	5	9
MUT:SPG7:Gly354Ala	PROT:Q9UQ90	SPG7	G	354	A	G354A	Likely pathogenic	1	1	5	14
MUT:SPG7:Gly577Ser	PROT:Q9UQ90	SPG7	G	577	S	G577S	Pathogenic/Likely pathogenic	1	1	5	42
MUT:SPG7:Gly666Arg	PROT:Q9UQ90	SPG7	G	666	R	G666R	Pathogenic/Likely pathogenic	1	2	5	31
MUT:SPG7:Gly666Val	PROT:Q9UQ90	SPG7	G	666	V	G666V	Likely pathogenic	1	1	5	31
MUT:SPG7:Gly672Arg	PROT:Q9UQ90	SPG7	G	672	R	G672R	Pathogenic/Likely pathogenic	1	2	5	37
MUT:SPG7:His701Pro	PROT:Q9UQ90	SPG7	H	701	P	H701P	Pathogenic/Likely pathogenic	1	1	5	66
MUT:SPG7:Ile743Thr	PROT:Q9UQ90	SPG7	I	743	T	I743T	Pathogenic/Likely pathogenic	1	4	5	108
MUT:SPG7:Leu437Pro	PROT:Q9UQ90	SPG7	L	437	P	L437P	Likely pathogenic	1	1	5	42
MUT:SPG7:Leu512Pro	PROT:Q9UQ90	SPG7	L	512	P	L512P	Pathogenic	1	1	5	107
MUT:SPG7:Leu695Pro	PROT:Q9UQ90	SPG7	L	695	P	L695P	Pathogenic/Likely pathogenic	1	1	5	60
MUT:SPG7:Leu732Pro	PROT:Q9UQ90	SPG7	L	732	P	L732P	Pathogenic	1	1	5	97
MUT:SPG7:Met1Arg	PROT:Q9UQ90	SPG7	M	1	R	M1R	Pathogenic	1	1	5	317
MUT:SPG7:Met1Ile	PROT:Q9UQ90	SPG7	M	1	I	M1I	Likely pathogenic	1	1	5	317
MUT:SPG7:Met1Leu	PROT:Q9UQ90	SPG7	M	1	L	M1L	Pathogenic/Likely pathogenic	1	1	5	317
MUT:SPG7:Met1Lys	PROT:Q9UQ90	SPG7	M	1	K	M1K	Pathogenic/Likely pathogenic	1	1	5	317
MUT:SPG7:Met1Thr	PROT:Q9UQ90	SPG7	M	1	T	M1T	Likely pathogenic	1	1	5	317
MUT:SPG7:Met1Val	PROT:Q9UQ90	SPG7	M	1	V	M1V	Pathogenic/Likely pathogenic	1	2	5	317
MUT:SPG7:Met667Ile	PROT:Q9UQ90	SPG7	M	667	I	M667I	Likely pathogenic	1	1	5	32
MUT:SPG7:Phe284Ser	PROT:Q9UQ90	SPG7	F	284	S	F284S	Likely pathogenic	1	1	5	34
MUT:SPG7:Phe324Ser	PROT:Q9UQ90	SPG7	F	324	S	F324S	Likely pathogenic	1	1	5	6
MUT:SPG7:Pro468Ala	PROT:Q9UQ90	SPG7	P	468	A	P468A	Likely pathogenic	1	1	5	73
MUT:SPG7:Pro750Leu	PROT:Q9UQ90	SPG7	P	750	L	P750L	Pathogenic/Likely pathogenic	1	2	5	115
MUT:SPG7:Ser692Thr	PROT:Q9UQ90	SPG7	S	692	T	S692T	Likely pathogenic	1	1	5	57
MUT:SPG7:Thr503Ala	PROT:Q9UQ90	SPG7	T	503	A	T503A	Benign	0	2	5	108
MUT:SPG7:Trp583Cys	PROT:Q9UQ90	SPG7	W	583	C	W583C	Pathogenic/Likely pathogenic	1	1	5	36
MUT:SPG7:Val311Glu	PROT:Q9UQ90	SPG7	V	311	E	V311E	Likely pathogenic	1	1	5	7
MUT:SPHKAP:Val1658Leu	PROT:Q2M3C7	SPHKAP	V	1658	L	V1658L	Benign/Likely benign	0	1	13	278
MUT:SPINK1:Asn37Ser	PROT:P00995	SPINK1	N	37	S	N37S	Likely benign	0	1	5	19
MUT:SPINK1:Gln74Arg	PROT:P00995	SPINK1	Q	74	R	Q74R	Likely benign	0	1	5	4
MUT:SPINK1:Glu29Lys	PROT:P00995	SPINK1	E	29	K	E29K	Likely benign	0	1	5	11
MUT:SPINK1:Glu35Asp	PROT:P00995	SPINK1	E	35	D	E35D	Likely benign	0	1	5	17
MUT:SPINK1:Gly22Ala	PROT:P00995	SPINK1	G	22	A	G22A	Likely benign	0	1	5	4
MUT:SPINK1:Gly22Arg	PROT:P00995	SPINK1	G	22	R	G22R	Likely benign	0	1	5	4
MUT:SPINK1:Ile71Val	PROT:P00995	SPINK1	I	71	V	I71V	Likely benign	0	1	5	1
MUT:SPINK1:Ile73Val	PROT:P00995	SPINK1	I	73	V	I73V	Likely benign	0	1	5	3
MUT:SPINK1:Leu12Phe	PROT:P00995	SPINK1	L	12	F	L12F	Benign/Likely benign	0	1	5	2
MUT:SPINK1:Leu14Pro	PROT:P00995	SPINK1	L	14	P	L14P	Pathogenic	1	1	5	2
MUT:SPINK1:Lys41Asn	PROT:P00995	SPINK1	K	41	N	K41N	Likely pathogenic	1	1	5	23
MUT:SPINK1:Met1Thr	PROT:P00995	SPINK1	M	1	T	M1T	Pathogenic	1	1	5	9
MUT:SPINK1:Pro55Ser	PROT:P00995	SPINK1	P	55	S	P55S	Benign/Likely benign	0	3	5	14
MUT:SPINK1:Tyr33Ser	PROT:P00995	SPINK1	Y	33	S	Y33S	Likely benign	0	1	5	15
MUT:SPINT2:Ala95Thr	PROT:O43291	SPINT2	A	95	T	A95T	Likely benign	0	1	7	24
MUT:SPINT2:Arg230His	PROT:O43291	SPINT2	R	230	H	R230H	Benign	0	1	7	7
MUT:SPINT2:Gly168Ser	PROT:O43291	SPINT2	G	168	S	G168S	Pathogenic	1	1	7	5
MUT:SPINT2:Gly239Arg	PROT:O43291	SPINT2	G	239	R	G239R	Likely benign	0	1	7	1
MUT:SPINT2:Met1Leu	PROT:O43291	SPINT2	M	1	L	M1L	Pathogenic	1	1	7	118
MUT:SPINT2:Pro111Ser	PROT:O43291	SPINT2	P	111	S	P111S	Likely benign	0	1	7	8
MUT:SPINT2:Pro141Ala	PROT:O43291	SPINT2	P	141	A	P141A	Likely pathogenic	1	1	7	9
MUT:SPINT2:Tyr129Cys	PROT:O43291	SPINT2	Y	129	C	Y129C	Likely pathogenic	1	1	7	10
MUT:SPINT2:Tyr163Cys	PROT:O43291	SPINT2	Y	163	C	Y163C	Pathogenic	1	1	7	0
MUT:SPOCD1:Leu971Arg	PROT:Q6ZMY3	SPOCD1	L	971	R	L971R	Likely pathogenic	1	1	1	561
MUT:SPOUT1:Arg352Cys	PROT:Q5T280	SPOUT1	R	352	C	R352C	Likely pathogenic	1	1	6	58
MUT:SPOUT1:Gly244Ser	PROT:Q5T280	SPOUT1	G	244	S	G244S	Likely pathogenic	1	2	6	1
MUT:SPOUT1:Gly293Ser	PROT:Q5T280	SPOUT1	G	293	S	G293S	Likely pathogenic	1	1	6	1
MUT:SPOUT1:Gly98Ser	PROT:Q5T280	SPOUT1	G	98	S	G98S	Likely pathogenic	1	3	6	36
MUT:SPOUT1:Ile369Thr	PROT:Q5T280	SPOUT1	I	369	T	I369T	Benign	0	1	6	75
MUT:SPOUT1:Leu314Phe	PROT:Q5T280	SPOUT1	L	314	F	L314F	Likely pathogenic	1	1	6	20
MUT:SPOUT1:Thr130Arg	PROT:Q5T280	SPOUT1	T	130	R	T130R	Benign	0	1	6	4
MUT:SPOUT1:Tyr339Cys	PROT:Q5T280	SPOUT1	Y	339	C	Y339C	Likely pathogenic	1	1	6	45
MUT:SPOUT1:Val140Ile	PROT:Q5T280	SPOUT1	V	140	I	V140I	Benign	0	1	6	5
MUT:SPP2:Asp36Glu	PROT:Q13103	SPP2	D	36	E	D36E	Benign	0	1	3	60
MUT:SPP2:Leu60Val	PROT:Q13103	SPP2	L	60	V	L60V	Benign	0	1	3	36
MUT:SPP2:Phe151Ser	PROT:Q13103	SPP2	F	151	S	F151S	Likely benign	0	1	3	24
MUT:SPR:Arg150Gly	PROT:P35270	SPR	R	150	G	R150G	Pathogenic	1	3	8	5
MUT:SPR:Cys171Tyr	PROT:P35270	SPR	C	171	Y	C171Y	Likely pathogenic	1	2	8	26
MUT:SPR:Glu187Gly	PROT:P35270	SPR	E	187	G	E187G	Likely pathogenic	1	1	8	26
MUT:SPR:Gly102Cys	PROT:P35270	SPR	G	102	C	G102C	Pathogenic	1	1	8	1
MUT:SPR:Met1Ile	PROT:P35270	SPR	M	1	I	M1I	Pathogenic	1	1	8	102
MUT:SPR:Met1Leu	PROT:P35270	SPR	M	1	L	M1L	Likely pathogenic	1	1	8	102
MUT:SPR:Met1Val	PROT:P35270	SPR	M	1	V	M1V	Likely pathogenic	1	1	8	102
MUT:SPR:Pro163Leu	PROT:P35270	SPR	P	163	L	P163L	Pathogenic	1	1	8	18
MUT:SPR:Tyr196Cys	PROT:P35270	SPR	Y	196	C	Y196C	Pathogenic	1	1	8	17
MUT:SPRED1:Ala409Ser	PROT:Q7Z699	SPRED1	A	409	S	A409S	Benign/Likely benign	0	1	14	97
MUT:SPRED1:Ala409Val	PROT:Q7Z699	SPRED1	A	409	V	A409V	Benign/Likely benign	0	1	14	97
MUT:SPRED1:Asn10Lys	PROT:Q7Z699	SPRED1	N	10	K	N10K	Benign/Likely benign	0	3	14	2
MUT:SPRED1:Asp398Asn	PROT:Q7Z699	SPRED1	D	398	N	D398N	Benign/Likely benign	0	1	14	86
MUT:SPRED1:Asp9Val	PROT:Q7Z699	SPRED1	D	9	V	D9V	Benign/Likely benign	0	3	14	1
MUT:SPRED1:Cys296Arg	PROT:Q7Z699	SPRED1	C	296	R	C296R	Likely benign	0	2	14	2
MUT:SPRED1:Cys429Arg	PROT:Q7Z699	SPRED1	C	429	R	C429R	Likely benign	0	1	14	117
MUT:SPRED1:Gln215His	PROT:Q7Z699	SPRED1	Q	215	H	Q215H	Likely benign	0	1	14	4
MUT:SPRED1:Met1Ile	PROT:Q7Z699	SPRED1	M	1	I	M1I	Pathogenic	1	1	14	4
MUT:SPRED1:Met1Leu	PROT:Q7Z699	SPRED1	M	1	L	M1L	Likely pathogenic	1	1	14	4
MUT:SPRED1:Met1Val	PROT:Q7Z699	SPRED1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	14	4
MUT:SPRED1:Ser149Asn	PROT:Q7Z699	SPRED1	S	149	N	S149N	Benign	0	1	14	44
MUT:SPRED1:Thr102Arg	PROT:Q7Z699	SPRED1	T	102	R	T102R	Pathogenic/Likely pathogenic	1	1	14	3
MUT:SPRED1:Thr102Lys	PROT:Q7Z699	SPRED1	T	102	K	T102K	Likely pathogenic	1	1	14	3
MUT:SPRED1:Thr102Met	PROT:Q7Z699	SPRED1	T	102	M	T102M	Pathogenic/Likely pathogenic	1	2	14	3
MUT:SPRED1:Val212Ile	PROT:Q7Z699	SPRED1	V	212	I	V212I	Benign/Likely benign	0	3	14	1
MUT:SPRED1:Val44Asp	PROT:Q7Z699	SPRED1	V	44	D	V44D	Pathogenic	1	1	14	36
MUT:SPRED2:Leu100Pro	PROT:Q7Z698	SPRED2	L	100	P	L100P	Pathogenic	1	2	17	4
MUT:SPRED2:Val269Leu	PROT:Q7Z698	SPRED2	V	269	L	V269L	Likely benign	0	3	17	1
MUT:SPTA1:Ala1998Pro	PROT:P02549	SPTA1	A	1998	P	A1998P	Benign	0	3	26	22
MUT:SPTA1:Ala957Val	PROT:P02549	SPTA1	A	957	V	A957V	Benign/Likely benign	0	3	26	35
MUT:SPTA1:Ala970Asp	PROT:P02549	SPTA1	A	970	D	A970D	Benign/Likely benign	0	3	26	22
MUT:SPTA1:Arg1330Ile	PROT:P02549	SPTA1	R	1330	I	R1330I	Benign/Likely benign	0	3	26	33
MUT:SPTA1:Arg2016Cys	PROT:P02549	SPTA1	R	2016	C	R2016C	Benign	0	3	26	40
MUT:SPTA1:Arg28Cys	PROT:P02549	SPTA1	R	28	C	R28C	Pathogenic/Likely pathogenic	1	3	26	9
MUT:SPTA1:Arg28His	PROT:P02549	SPTA1	R	28	H	R28H	Pathogenic/Likely pathogenic	1	5	26	9
MUT:SPTA1:Arg28Leu	PROT:P02549	SPTA1	R	28	L	R28L	Pathogenic/Likely pathogenic	1	1	26	9
MUT:SPTA1:Arg28Ser	PROT:P02549	SPTA1	R	28	S	R28S	Pathogenic	1	2	26	9
MUT:SPTA1:Arg41Trp	PROT:P02549	SPTA1	R	41	W	R41W	Pathogenic	1	1	26	4
MUT:SPTA1:Arg45Ser	PROT:P02549	SPTA1	R	45	S	R45S	Pathogenic	1	2	26	8
MUT:SPTA1:Arg701His	PROT:P02549	SPTA1	R	701	H	R701H	Benign	0	3	26	66
MUT:SPTA1:Asn1836Ser	PROT:P02549	SPTA1	N	1836	S	N1836S	Benign	0	3	26	33
MUT:SPTA1:Asp152Asn	PROT:P02549	SPTA1	D	152	N	D152N	Benign	0	3	26	56
MUT:SPTA1:Cys1568Arg	PROT:P02549	SPTA1	C	1568	R	C1568R	Benign	0	3	26	69
MUT:SPTA1:Glu2139Asp	PROT:P02549	SPTA1	E	2139	D	E2139D	Likely pathogenic	1	1	26	130
MUT:SPTA1:Glu2224Asp	PROT:P02549	SPTA1	E	2224	D	E2224D	Benign/Likely benign	0	2	26	45
MUT:SPTA1:Glu840Asp	PROT:P02549	SPTA1	E	840	D	E840D	Benign/Likely benign	0	3	26	52
MUT:SPTA1:Ile2265Thr	PROT:P02549	SPTA1	I	2265	T	I2265T	Benign	0	3	26	4
MUT:SPTA1:Ile809Val	PROT:P02549	SPTA1	I	809	V	I809V	Benign	0	3	26	21
MUT:SPTA1:Leu260Pro	PROT:P02549	SPTA1	L	260	P	L260P	Pathogenic/Likely pathogenic	1	2	26	1
MUT:SPTA1:Leu567Pro	PROT:P02549	SPTA1	L	567	P	L567P	Likely pathogenic	1	1	26	19
MUT:SPTA1:Lys1693Gln	PROT:P02549	SPTA1	K	1693	Q	K1693Q	Benign	0	3	26	110
MUT:SPTA1:Lys2187Glu	PROT:P02549	SPTA1	K	2187	E	K2187E	Benign/Likely benign	0	3	26	82
MUT:SPTA1:Ser1163Ala	PROT:P02549	SPTA1	S	1163	A	S1163A	Benign	0	3	26	4
MUT:SPTA1:Thr853Arg	PROT:P02549	SPTA1	T	853	R	T853R	Benign	0	3	26	65
MUT:SPTB:Ala1009Asp	PROT:P11277	SPTB	A	1009	D	A1009D	Likely benign	0	1	21	9
MUT:SPTB:Ala2018Gly	PROT:P11277	SPTB	A	2018	G	A2018G	Pathogenic	1	2	21	1
MUT:SPTB:Ala2053Pro	PROT:P11277	SPTB	A	2053	P	A2053P	Likely pathogenic	1	1	21	7
MUT:SPTB:Ala2059Pro	PROT:P11277	SPTB	A	2059	P	A2059P	Likely pathogenic	1	1	21	1
MUT:SPTB:Ala49Val	PROT:P11277	SPTB	A	49	V	A49V	Likely pathogenic	1	1	21	13
MUT:SPTB:Arg156Pro	PROT:P11277	SPTB	R	156	P	R156P	Pathogenic	1	1	21	32
MUT:SPTB:Arg2064Pro	PROT:P11277	SPTB	R	2064	P	R2064P	Pathogenic	1	1	21	4
MUT:SPTB:Arg216Gln	PROT:P11277	SPTB	R	216	Q	R216Q	Pathogenic/Likely pathogenic	1	2	21	92
MUT:SPTB:Asn1151Asp	PROT:P11277	SPTB	N	1151	D	N1151D	Benign/Likely benign	0	1	21	75
MUT:SPTB:Asp84Val	PROT:P11277	SPTB	D	84	V	D84V	Likely pathogenic	1	1	21	8
MUT:SPTB:Glu2075Gly	PROT:P11277	SPTB	E	2075	G	E2075G	Pathogenic/Likely pathogenic	1	1	21	2
MUT:SPTB:Gly1112Arg	PROT:P11277	SPTB	G	1112	R	G1112R	Benign/Likely benign	0	2	21	94
MUT:SPTB:Ile990Val	PROT:P11277	SPTB	I	990	V	I990V	Likely benign	0	1	21	8
MUT:SPTB:Leu2032Pro	PROT:P11277	SPTB	L	2032	P	L2032P	Pathogenic	1	1	21	11
MUT:SPTB:Met1Val	PROT:P11277	SPTB	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	21	35
MUT:SPTB:Pro1407Leu	PROT:P11277	SPTB	P	1407	L	P1407L	Likely benign	0	1	21	181
MUT:SPTB:Ser2019Pro	PROT:P11277	SPTB	S	2019	P	S2019P	Pathogenic/Likely pathogenic	1	3	21	0
MUT:SPTB:Ser439Asn	PROT:P11277	SPTB	S	439	N	S439N	Benign/Likely benign	0	1	21	35
MUT:SPTB:Thr2040Ile	PROT:P11277	SPTB	T	2040	I	T2040I	Likely pathogenic	1	1	21	3
MUT:SPTB:Trp202Arg	PROT:P11277	SPTB	W	202	R	W202R	Pathogenic	1	1	21	78
MUT:SPTBN4:Ala1072Gly	PROT:Q9H254	SPTBN4	A	1072	G	A1072G	Likely benign	0	2	14	47
MUT:SPTBN4:Ala2464Gly	PROT:Q9H254	SPTBN4	A	2464	G	A2464G	Benign	0	1	14	64
MUT:SPTBN4:Ala38Thr	PROT:Q9H254	SPTBN4	A	38	T	A38T	Benign	0	1	14	3
MUT:SPTBN4:Ala39Val	PROT:Q9H254	SPTBN4	A	39	V	A39V	Likely benign	0	1	14	2
MUT:SPTBN4:Ala774Val	PROT:Q9H254	SPTBN4	A	774	V	A774V	Benign	0	1	14	238
MUT:SPTBN4:Arg2435Cys	PROT:Q9H254	SPTBN4	R	2435	C	R2435C	Pathogenic	1	1	14	35
MUT:SPTBN4:Arg246Pro	PROT:Q9H254	SPTBN4	R	246	P	R246P	Likely pathogenic	1	1	14	49
MUT:SPTBN4:Arg561Pro	PROT:Q9H254	SPTBN4	R	561	P	R561P	Likely benign	0	1	14	266
MUT:SPTBN4:Asn1336Ser	PROT:Q9H254	SPTBN4	N	1336	S	N1336S	Likely benign	0	1	14	311
MUT:SPTBN4:Glu1193Lys	PROT:Q9H254	SPTBN4	E	1193	K	E1193K	Likely benign	0	1	14	168
MUT:SPTBN4:Glu312Lys	PROT:Q9H254	SPTBN4	E	312	K	E312K	Likely benign	0	1	14	17
MUT:SPTBN4:Gly1331Ser	PROT:Q9H254	SPTBN4	G	1331	S	G1331S	Benign	0	1	14	306
MUT:SPTBN4:Ile1200Val	PROT:Q9H254	SPTBN4	I	1200	V	I1200V	Likely benign	0	1	14	175
MUT:SPTBN4:Leu1537Met	PROT:Q9H254	SPTBN4	L	1537	M	L1537M	Likely benign	0	1	14	512
MUT:SPTBN4:Lys2115Arg	PROT:Q9H254	SPTBN4	K	2115	R	K2115R	Likely benign	0	1	14	3
MUT:SPTBN4:Lys2479Asn	PROT:Q9H254	SPTBN4	K	2479	N	K2479N	Benign/Likely benign	0	1	14	79
MUT:SPTBN4:Pro21Leu	PROT:Q9H254	SPTBN4	P	21	L	P21L	Likely benign	0	1	14	20
MUT:SPTBN4:Pro2211Ser	PROT:Q9H254	SPTBN4	P	2211	S	P2211S	Benign	0	1	14	43
MUT:SPTBN4:Val513Ile	PROT:Q9H254	SPTBN4	V	513	I	V513I	Likely benign	0	1	14	218
MUT:SPTBN4:Val739Met	PROT:Q9H254	SPTBN4	V	739	M	V739M	Benign	0	1	14	273
MUT:SPTBN5:Ala3347Val	PROT:Q9NRC6	SPTBN5	A	3347	V	A3347V	Benign	0	3	4	1618
MUT:SPTBN5:Arg1652Gln	PROT:Q9NRC6	SPTBN5	R	1652	Q	R1652Q	Likely benign	0	1	4	69
MUT:SPTBN5:Arg2229Trp	PROT:Q9NRC6	SPTBN5	R	2229	W	R2229W	Benign	0	1	4	500
MUT:SPTBN5:Arg2506Trp	PROT:Q9NRC6	SPTBN5	R	2506	W	R2506W	Likely benign	0	1	4	777
MUT:SPTBN5:Arg3600Gln	PROT:Q9NRC6	SPTBN5	R	3600	Q	R3600Q	Likely benign	0	1	4	1871
MUT:SPTBN5:Asp1835Asn	PROT:Q9NRC6	SPTBN5	D	1835	N	D1835N	Likely benign	0	1	4	106
MUT:SPTBN5:Asp444Gly	PROT:Q9NRC6	SPTBN5	D	444	G	D444G	Benign	0	1	4	91
MUT:SPTBN5:Glu2407Lys	PROT:Q9NRC6	SPTBN5	E	2407	K	E2407K	Likely benign	0	1	4	678
MUT:SPTBN5:His1053Tyr	PROT:Q9NRC6	SPTBN5	H	1053	Y	H1053Y	Benign	0	1	4	84
MUT:SPTBN5:Ile3619Val	PROT:Q9NRC6	SPTBN5	I	3619	V	I3619V	Benign	0	1	4	1890
MUT:SPTBN5:Val197Met	PROT:Q9NRC6	SPTBN5	V	197	M	V197M	Likely benign	0	1	4	156
MUT:SPTBN5:Val2376Ile	PROT:Q9NRC6	SPTBN5	V	2376	I	V2376I	Likely benign	0	1	4	647
MUT:SRA1:Gln20Glu	PROT:Q9HD15	SRA1	Q	20	E	Q20E	Benign	0	1	6	40
MUT:SRA1:Gly138Glu	PROT:Q9HD15	SRA1	G	138	E	G138E	Likely benign	0	1	6	46
MUT:SRA1:Ile167Thr	PROT:Q9HD15	SRA1	I	167	T	I167T	Benign/Likely benign	0	1	6	75
MUT:SRA1:Pro105Leu	PROT:Q9HD15	SRA1	P	105	L	P105L	Likely benign	0	1	6	13
MUT:SRA1:Pro218Leu	PROT:Q9HD15	SRA1	P	218	L	P218L	Benign	0	1	6	126
MUT:SRA1:Pro61Leu	PROT:Q9HD15	SRA1	P	61	L	P61L	Benign	0	1	6	1
MUT:SRA1:Pro77Leu	PROT:Q9HD15	SRA1	P	77	L	P77L	Likely benign	0	1	6	6
MUT:SRC:Glu527Lys	PROT:P12931	SRC	E	527	K	E527K	Likely pathogenic	1	1	29	0
MUT:SRC:Thr292Asn	PROT:P12931	SRC	T	292	N	T292N	Likely benign	0	1	29	14
MUT:SRCAP:Ala1807Val	PROT:Q6ZRS2	SRCAP	A	1807	V	A1807V	Likely benign	0	1	44	49
MUT:SRCAP:Ala1910Thr	PROT:Q6ZRS2	SRCAP	A	1910	T	A1910T	Likely benign	0	1	44	18
MUT:SRCAP:Ala2699Thr	PROT:Q6ZRS2	SRCAP	A	2699	T	A2699T	Likely benign	0	1	44	25
MUT:SRCAP:Arg1178Cys	PROT:Q6ZRS2	SRCAP	R	1178	C	R1178C	Benign/Likely benign	0	2	44	6
MUT:SRCAP:Arg1897Gln	PROT:Q6ZRS2	SRCAP	R	1897	Q	R1897Q	Likely benign	0	1	44	5
MUT:SRCAP:Arg1957Gln	PROT:Q6ZRS2	SRCAP	R	1957	Q	R1957Q	Benign/Likely benign	0	1	44	65
MUT:SRCAP:Arg2329Gln	PROT:Q6ZRS2	SRCAP	R	2329	Q	R2329Q	Likely benign	0	1	44	19
MUT:SRCAP:Arg2421Leu	PROT:Q6ZRS2	SRCAP	R	2421	L	R2421L	Likely benign	0	1	44	2
MUT:SRCAP:Arg2828Cys	PROT:Q6ZRS2	SRCAP	R	2828	C	R2828C	Benign/Likely benign	0	1	44	24
MUT:SRCAP:Arg3188Cys	PROT:Q6ZRS2	SRCAP	R	3188	C	R3188C	Likely benign	0	1	44	11
MUT:SRCAP:Gln388Glu	PROT:Q6ZRS2	SRCAP	Q	388	E	Q388E	Benign/Likely benign	0	1	44	40
MUT:SRCAP:Gln733Lys	PROT:Q6ZRS2	SRCAP	Q	733	K	Q733K	Likely benign	0	1	44	19
MUT:SRCAP:Glu1183Lys	PROT:Q6ZRS2	SRCAP	E	1183	K	E1183K	Likely benign	0	1	44	11
MUT:SRCAP:Glu1902Gly	PROT:Q6ZRS2	SRCAP	E	1902	G	E1902G	Benign/Likely benign	0	1	44	10
MUT:SRCAP:Glu408Asp	PROT:Q6ZRS2	SRCAP	E	408	D	E408D	Benign/Likely benign	0	1	44	60
MUT:SRCAP:Gly2043Arg	PROT:Q6ZRS2	SRCAP	G	2043	R	G2043R	Likely pathogenic	1	1	44	151
MUT:SRCAP:Gly2276Val	PROT:Q6ZRS2	SRCAP	G	2276	V	G2276V	Likely benign	0	1	44	18
MUT:SRCAP:Gly2839Ser	PROT:Q6ZRS2	SRCAP	G	2839	S	G2839S	Likely benign	0	1	44	13
MUT:SRCAP:Gly2897Arg	PROT:Q6ZRS2	SRCAP	G	2897	R	G2897R	Likely benign	0	1	44	28
MUT:SRCAP:Ile1973Thr	PROT:Q6ZRS2	SRCAP	I	1973	T	I1973T	Likely benign	0	1	44	81
MUT:SRCAP:Ile51Thr	PROT:Q6ZRS2	SRCAP	I	51	T	I51T	Likely benign	0	1	44	165
MUT:SRCAP:Leu2919Phe	PROT:Q6ZRS2	SRCAP	L	2919	F	L2919F	Likely benign	0	1	44	13
MUT:SRCAP:Met2796Thr	PROT:Q6ZRS2	SRCAP	M	2796	T	M2796T	Likely benign	0	1	44	6
MUT:SRCAP:Pro1042Ser	PROT:Q6ZRS2	SRCAP	P	1042	S	P1042S	Likely benign	0	1	44	130
MUT:SRCAP:Pro1059Leu	PROT:Q6ZRS2	SRCAP	P	1059	L	P1059L	Likely benign	0	2	44	113
MUT:SRCAP:Pro1083Ser	PROT:Q6ZRS2	SRCAP	P	1083	S	P1083S	Likely benign	0	1	44	89
MUT:SRCAP:Pro2437Ser	PROT:Q6ZRS2	SRCAP	P	2437	S	P2437S	Likely benign	0	1	44	7
MUT:SRCAP:Pro2487Leu	PROT:Q6ZRS2	SRCAP	P	2487	L	P2487L	Likely benign	0	1	44	57
MUT:SRCAP:Ser1635Leu	PROT:Q6ZRS2	SRCAP	S	1635	L	S1635L	Likely benign	0	1	44	123
MUT:SRCAP:Ser1674Arg	PROT:Q6ZRS2	SRCAP	S	1674	R	S1674R	Likely benign	0	1	44	84
MUT:SRCAP:Ser1722Pro	PROT:Q6ZRS2	SRCAP	S	1722	P	S1722P	Likely benign	0	1	44	36
MUT:SRCAP:Ser2568Phe	PROT:Q6ZRS2	SRCAP	S	2568	F	S2568F	Likely pathogenic	1	1	44	138
MUT:SRCAP:Thr1096Ser	PROT:Q6ZRS2	SRCAP	T	1096	S	T1096S	Likely benign	0	1	44	76
MUT:SRCAP:Thr1101Lys	PROT:Q6ZRS2	SRCAP	T	1101	K	T1101K	Benign/Likely benign	0	1	44	71
MUT:SRCAP:Thr1767Met	PROT:Q6ZRS2	SRCAP	T	1767	M	T1767M	Likely benign	0	1	44	9
MUT:SRCAP:Thr2374Asn	PROT:Q6ZRS2	SRCAP	T	2374	N	T2374N	Likely benign	0	1	44	0
MUT:SRCAP:Thr918Pro	PROT:Q6ZRS2	SRCAP	T	918	P	T918P	Likely benign	0	1	44	71
MUT:SRCAP:Val1541Met	PROT:Q6ZRS2	SRCAP	V	1541	M	V1541M	Likely benign	0	1	44	217
MUT:SRCAP:Val2222Met	PROT:Q6ZRS2	SRCAP	V	2222	M	V2222M	Benign/Likely benign	0	1	44	2
MUT:SRGAP1:Ala275Thr	PROT:Q7Z6B7	SRGAP1	A	275	T	A275T	Pathogenic	1	1	39	51
MUT:SRGAP1:Ser569Gly	PROT:Q7Z6B7	SRGAP1	S	569	G	S569G	Likely benign	0	2	39	136
MUT:SRPK2:Ala32Val	PROT:P78362	SRPK2	A	32	V	A32V	Benign	0	1	22	20
MUT:SRPRA:Gly483Asp	PROT:P08240	SRPRA	G	483	D	G483D	Benign	0	9	18	9
MUT:SRSF11:Val91Leu	PROT:Q05519	SRSF11	V	91	L	V91L	Likely benign	0	1	31	9
MUT:SRSF2:Pro95Arg	PROT:Q01130	SRSF2	P	95	R	P95R	Likely pathogenic	1	1	29	3
MUT:SRSF2:Pro95Leu	PROT:Q01130	SRSF2	P	95	L	P95L	Pathogenic	1	2	29	3
MUT:SRY:Ala113Glu	PROT:Q05066	SRY	A	113	E	A113E	Likely pathogenic	1	1	1	23
MUT:SRY:Ala113Thr	PROT:Q05066	SRY	A	113	T	A113T	Pathogenic	1	1	1	23
MUT:SRY:Ala66Pro	PROT:Q05066	SRY	A	66	P	A66P	Likely pathogenic	1	1	1	70
MUT:SRY:Arg133Trp	PROT:Q05066	SRY	R	133	W	R133W	Pathogenic	1	1	1	3
MUT:SRY:Arg30Ile	PROT:Q05066	SRY	R	30	I	R30I	Pathogenic	1	1	1	106
MUT:SRY:Arg76Leu	PROT:Q05066	SRY	R	76	L	R76L	Likely pathogenic	1	1	1	60
MUT:SRY:Gly95Arg	PROT:Q05066	SRY	G	95	R	G95R	Pathogenic	1	1	1	41
MUT:SRY:Gly95Glu	PROT:Q05066	SRY	G	95	E	G95E	Pathogenic	1	1	1	41
MUT:SRY:Ile68Thr	PROT:Q05066	SRY	I	68	T	I68T	Pathogenic	1	1	1	68
MUT:SRY:Ile90Met	PROT:Q05066	SRY	I	90	M	I90M	Pathogenic	1	2	1	46
MUT:SRY:Leu101Phe	PROT:Q05066	SRY	L	101	F	L101F	Likely pathogenic	1	1	1	35
MUT:SRY:Lys106Ile	PROT:Q05066	SRY	K	106	I	K106I	Pathogenic	1	1	1	30
MUT:SRY:Met64Ile	PROT:Q05066	SRY	M	64	I	M64I	Likely pathogenic	1	1	1	72
MUT:SRY:Phe109Ser	PROT:Q05066	SRY	F	109	S	F109S	Pathogenic	1	1	1	27
MUT:SRY:Ser18Asn	PROT:Q05066	SRY	S	18	N	S18N	Pathogenic	1	1	1	118
MUT:SRY:Ser190Arg	PROT:Q05066	SRY	S	190	R	S190R	Benign	0	1	1	54
MUT:SRY:Ser71Tyr	PROT:Q05066	SRY	S	71	Y	S71Y	Likely pathogenic	1	1	1	65
MUT:SRY:Ser91Arg	PROT:Q05066	SRY	S	91	R	S91R	Likely pathogenic	1	1	1	45
MUT:SRY:Ser91Thr	PROT:Q05066	SRY	S	91	T	S91T	Likely pathogenic	1	1	1	45
MUT:SRY:Thr102Ile	PROT:Q05066	SRY	T	102	I	T102I	Likely pathogenic	1	1	1	34
MUT:SRY:Tyr127Cys	PROT:Q05066	SRY	Y	127	C	Y127C	Pathogenic	1	1	1	9
MUT:SRY:Tyr127Phe	PROT:Q05066	SRY	Y	127	F	Y127F	Pathogenic	1	1	1	9
MUT:SRY:Val60Leu	PROT:Q05066	SRY	V	60	L	V60L	Pathogenic	1	1	1	76
MUT:SSBP1:Arg107Gln	PROT:Q04837	SSBP1	R	107	Q	R107Q	Pathogenic	1	2	14	2
MUT:SSBP1:Arg11His	PROT:Q04837	SSBP1	R	11	H	R11H	Likely benign	0	1	14	40
MUT:SSBP1:Arg38Gln	PROT:Q04837	SSBP1	R	38	Q	R38Q	Pathogenic	1	2	14	13
MUT:SSBP1:Gly40Val	PROT:Q04837	SSBP1	G	40	V	G40V	Likely pathogenic	1	1	14	11
MUT:SSBP1:Leu10Phe	PROT:Q04837	SSBP1	L	10	F	L10F	Likely benign	0	1	14	41
MUT:SSBP1:Ser141Asn	PROT:Q04837	SSBP1	S	141	N	S141N	Pathogenic	1	1	14	4
MUT:SSH1:Asp485Val	PROT:Q8WYL5	SSH1	D	485	V	D485V	Likely benign	0	1	33	29
MUT:SSH1:Ser754Phe	PROT:Q8WYL5	SSH1	S	754	F	S754F	Likely benign	0	1	33	72
MUT:SSH1:Thr678Ile	PROT:Q8WYL5	SSH1	T	678	I	T678I	Likely benign	0	1	33	95
MUT:SSR4:Gly71Ser	PROT:P51571	SSR4	G	71	S	G71S	Likely benign	0	1	4	7
MUT:ST3GAL3:Ala13Asp	PROT:Q11203	ST3GAL3	A	13	D	A13D	Pathogenic	1	1	3	160
MUT:ST3GAL3:Ala320Pro	PROT:Q11203	ST3GAL3	A	320	P	A320P	Pathogenic	1	1	3	49
MUT:ST3GAL3:Asp370Tyr	PROT:Q11203	ST3GAL3	D	370	Y	D370Y	Pathogenic	1	1	3	1
MUT:ST3GAL3:Thr349Met	PROT:Q11203	ST3GAL3	T	349	M	T349M	Likely pathogenic	1	1	3	20
MUT:STAG1:Ala1114Val	PROT:Q8WVM7	STAG1	A	1114	V	A1114V	Likely benign	0	1	31	6
MUT:STAG1:Arg1127Gln	PROT:Q8WVM7	STAG1	R	1127	Q	R1127Q	Likely benign	0	1	31	1
MUT:STAG1:Arg216Gly	PROT:Q8WVM7	STAG1	R	216	G	R216G	Pathogenic/Likely pathogenic	1	2	31	57
MUT:STAG1:Arg301His	PROT:Q8WVM7	STAG1	R	301	H	R301H	Likely pathogenic	1	1	31	28
MUT:STAG1:Arg361Ile	PROT:Q8WVM7	STAG1	R	361	I	R361I	Likely benign	0	1	31	5
MUT:STAG1:Arg373Gln	PROT:Q8WVM7	STAG1	R	373	Q	R373Q	Pathogenic/Likely pathogenic	1	2	31	7
MUT:STAG1:Arg377Cys	PROT:Q8WVM7	STAG1	R	377	C	R377C	Pathogenic/Likely pathogenic	1	1	31	11
MUT:STAG1:Asn410Ile	PROT:Q8WVM7	STAG1	N	410	I	N410I	Likely benign	0	1	31	43
MUT:STAG1:Asp384His	PROT:Q8WVM7	STAG1	D	384	H	D384H	Likely pathogenic	1	1	31	18
MUT:STAG1:Gln214Arg	PROT:Q8WVM7	STAG1	Q	214	R	Q214R	Likely pathogenic	1	1	31	59
MUT:STAG1:Gln619His	PROT:Q8WVM7	STAG1	Q	619	H	Q619H	Likely benign	0	1	31	2
MUT:STAG1:Glu368Lys	PROT:Q8WVM7	STAG1	E	368	K	E368K	Likely pathogenic	1	1	31	2
MUT:STAG1:Glu56Gly	PROT:Q8WVM7	STAG1	E	56	G	E56G	Likely benign	0	1	31	10
MUT:STAG1:Glu760Asp	PROT:Q8WVM7	STAG1	E	760	D	E760D	Benign/Likely benign	0	1	31	1
MUT:STAG1:Gly209Arg	PROT:Q8WVM7	STAG1	G	209	R	G209R	Likely pathogenic	1	1	31	64
MUT:STAG1:Gly680Glu	PROT:Q8WVM7	STAG1	G	680	E	G680E	Likely benign	0	1	31	9
MUT:STAG1:His478Leu	PROT:Q8WVM7	STAG1	H	478	L	H478L	Likely pathogenic	1	1	31	25
MUT:STAG1:His478Pro	PROT:Q8WVM7	STAG1	H	478	P	H478P	Pathogenic/Likely pathogenic	1	2	31	25
MUT:STAG1:Ile115Val	PROT:Q8WVM7	STAG1	I	115	V	I115V	Likely benign	0	1	31	69
MUT:STAG1:Ile526Thr	PROT:Q8WVM7	STAG1	I	526	T	I526T	Likely benign	0	1	31	42
MUT:STAG1:Leu351Trp	PROT:Q8WVM7	STAG1	L	351	W	L351W	Likely pathogenic	1	1	31	15
MUT:STAG1:Lys333Gln	PROT:Q8WVM7	STAG1	K	333	Q	K333Q	Likely pathogenic	1	1	31	33
MUT:STAG1:Pro940Ser	PROT:Q8WVM7	STAG1	P	940	S	P940S	Likely benign	0	1	31	22
MUT:STAMBP:Arg38Cys	PROT:O95630	STAMBP	R	38	C	R38C	Pathogenic/Likely pathogenic	1	1	14	1
MUT:STAMBP:Gln155His	PROT:O95630	STAMBP	Q	155	H	Q155H	Likely benign	0	1	14	2
MUT:STAMBP:Glu42Gly	PROT:O95630	STAMBP	E	42	G	E42G	Likely pathogenic	1	1	14	3
MUT:STAMBP:His77Arg	PROT:O95630	STAMBP	H	77	R	H77R	Likely pathogenic	1	1	14	19
MUT:STAMBP:Phe100Tyr	PROT:O95630	STAMBP	F	100	Y	F100Y	Pathogenic	1	1	14	2
MUT:STAMBP:Ser236Phe	PROT:O95630	STAMBP	S	236	F	S236F	Pathogenic	1	1	14	2
MUT:STAMBP:Thr224Ala	PROT:O95630	STAMBP	T	224	A	T224A	Likely benign	0	1	14	14
MUT:STAR:Ala218Thr	PROT:P49675	STAR	A	218	T	A218T	Likely pathogenic	1	1	3	23
MUT:STAR:Ala218Val	PROT:P49675	STAR	A	218	V	A218V	Pathogenic	1	1	3	23
MUT:STAR:Arg182Cys	PROT:P49675	STAR	R	182	C	R182C	Pathogenic	1	1	3	13
MUT:STAR:Arg182His	PROT:P49675	STAR	R	182	H	R182H	Pathogenic	1	1	3	13
MUT:STAR:Arg182Leu	PROT:P49675	STAR	R	182	L	R182L	Pathogenic	1	1	3	13
MUT:STAR:Arg182Ser	PROT:P49675	STAR	R	182	S	R182S	Likely pathogenic	1	1	3	13
MUT:STAR:Arg188Cys	PROT:P49675	STAR	R	188	C	R188C	Pathogenic	1	1	3	7
MUT:STAR:Arg192Cys	PROT:P49675	STAR	R	192	C	R192C	Pathogenic/Likely pathogenic	1	1	3	3
MUT:STAR:Arg217Thr	PROT:P49675	STAR	R	217	T	R217T	Pathogenic	1	1	3	22
MUT:STAR:Arg272Cys	PROT:P49675	STAR	R	272	C	R272C	Pathogenic/Likely pathogenic	1	1	3	1
MUT:STAR:Arg272His	PROT:P49675	STAR	R	272	H	R272H	Likely pathogenic	1	1	3	1
MUT:STAR:Arg274His	PROT:P49675	STAR	R	274	H	R274H	Likely benign	0	1	3	1
MUT:STAR:Arg53Leu	PROT:P49675	STAR	R	53	L	R53L	Likely benign	0	1	3	142
MUT:STAR:Asn148Lys	PROT:P49675	STAR	N	148	K	N148K	Likely pathogenic	1	1	3	47
MUT:STAR:Glu123Lys	PROT:P49675	STAR	E	123	K	E123K	Likely pathogenic	1	1	3	72
MUT:STAR:Glu169Lys	PROT:P49675	STAR	E	169	K	E169K	Pathogenic/Likely pathogenic	1	2	3	26
MUT:STAR:Gly145Arg	PROT:P49675	STAR	G	145	R	G145R	Benign	0	1	3	50
MUT:STAR:Gly221Ser	PROT:P49675	STAR	G	221	S	G221S	Pathogenic/Likely pathogenic	1	1	3	26
MUT:STAR:His220Arg	PROT:P49675	STAR	H	220	R	H220R	Likely pathogenic	1	1	3	25
MUT:STAR:Leu157Pro	PROT:P49675	STAR	L	157	P	L157P	Likely pathogenic	1	1	3	38
MUT:STAR:Leu260Pro	PROT:P49675	STAR	L	260	P	L260P	Pathogenic/Likely pathogenic	1	1	3	13
MUT:STAR:Leu275Pro	PROT:P49675	STAR	L	275	P	L275P	Pathogenic/Likely pathogenic	1	1	3	2
MUT:STAR:Met225Thr	PROT:P49675	STAR	M	225	T	M225T	Likely pathogenic	1	1	3	30
MUT:STAR:Ser13Pro	PROT:P49675	STAR	S	13	P	S13P	Pathogenic/Likely pathogenic	1	1	3	182
MUT:STAR:Val187Met	PROT:P49675	STAR	V	187	M	V187M	Pathogenic/Likely pathogenic	1	2	3	8
MUT:STAT4:Ala635Val	PROT:Q14765	STAT4	A	635	V	A635V	Likely pathogenic	1	1	9	5
MUT:STAT4:Arg240Gln	PROT:Q14765	STAT4	R	240	Q	R240Q	Likely benign	0	1	9	103
MUT:STAT4:His623Tyr	PROT:Q14765	STAT4	H	623	Y	H623Y	Pathogenic	1	1	9	7
MUT:STAT4:Thr298Ile	PROT:Q14765	STAT4	T	298	I	T298I	Likely benign	0	1	9	98
MUT:STAT6:Arg115His	PROT:P42226	STAT6	R	115	H	R115H	Likely benign	0	1	20	7
MUT:STAT6:Arg135Gln	PROT:P42226	STAT6	R	135	Q	R135Q	Likely benign	0	1	20	27
MUT:STAT6:Asp419Gly	PROT:P42226	STAT6	D	419	G	D419G	Pathogenic	1	1	20	58
MUT:STAT6:Asp419His	PROT:P42226	STAT6	D	419	H	D419H	Likely pathogenic	1	2	20	58
MUT:STAT6:Asp419Tyr	PROT:P42226	STAT6	D	419	Y	D419Y	Pathogenic	1	1	20	58
MUT:STAT6:Asp519His	PROT:P42226	STAT6	D	519	H	D519H	Pathogenic	1	1	20	15
MUT:STAT6:Glu372Lys	PROT:P42226	STAT6	E	372	K	E372K	Pathogenic	1	1	20	11
MUT:STAT6:Glu382Gln	PROT:P42226	STAT6	E	382	Q	E382Q	Pathogenic	1	1	20	21
MUT:STAT6:Ser176Asn	PROT:P42226	STAT6	S	176	N	S176N	Likely benign	0	1	20	68
MUT:STEAP2:Ser221Gly	PROT:Q8NFT2	STEAP2	S	221	G	S221G	Likely benign	0	1	6	27
MUT:STEAP2:Tyr284Cys	PROT:Q8NFT2	STEAP2	Y	284	C	Y284C	Benign	0	1	6	90
MUT:STIL:Ala86Val	PROT:Q15468	STIL	A	86	V	A86V	Benign	0	1	23	26
MUT:STIL:Arg104Gln	PROT:Q15468	STIL	R	104	Q	R104Q	Likely benign	0	1	23	23
MUT:STIL:Asn865Thr	PROT:Q15468	STIL	N	865	T	N865T	Likely benign	0	1	23	86
MUT:STIL:Asp1144Asn	PROT:Q15468	STIL	D	1144	N	D1144N	Benign	0	1	23	9
MUT:STIL:Asp573Asn	PROT:Q15468	STIL	D	573	N	D573N	Likely benign	0	1	23	50
MUT:STIL:Gln547Lys	PROT:Q15468	STIL	Q	547	K	Q547K	Pathogenic	1	1	23	24
MUT:STIL:His985Arg	PROT:Q15468	STIL	H	985	R	H985R	Benign	0	1	23	15
MUT:STIL:Leu188Phe	PROT:Q15468	STIL	L	188	F	L188F	Likely benign	0	1	23	55
MUT:STIL:Leu485Phe	PROT:Q15468	STIL	L	485	F	L485F	Benign/Likely benign	0	2	23	36
MUT:STIL:Leu558Phe	PROT:Q15468	STIL	L	558	F	L558F	Likely benign	0	1	23	35
MUT:STIL:Leu798Trp	PROT:Q15468	STIL	L	798	W	L798W	Pathogenic	1	1	23	19
MUT:STIL:Phe299Ile	PROT:Q15468	STIL	F	299	I	F299I	Likely pathogenic	1	1	23	56
MUT:STIL:Pro699Leu	PROT:Q15468	STIL	P	699	L	P699L	Likely benign	0	1	23	20
MUT:STIL:Ser1172Phe	PROT:Q15468	STIL	S	1172	F	S1172F	Benign/Likely benign	0	2	23	4
MUT:STIL:Ser409Thr	PROT:Q15468	STIL	S	409	T	S409T	Likely pathogenic	1	1	23	0
MUT:STIL:Ser673Gly	PROT:Q15468	STIL	S	673	G	S673G	Benign/Likely benign	0	1	23	46
MUT:STIL:Thr1193Met	PROT:Q15468	STIL	T	1193	M	T1193M	Likely benign	0	1	23	25
MUT:STIL:Val897Ile	PROT:Q15468	STIL	V	897	I	V897I	Likely benign	0	1	23	103
MUT:STIM1:Arg304Trp	PROT:Q13586	STIM1	R	304	W	R304W	Pathogenic	1	1	45	10
MUT:STIM1:Arg429Cys	PROT:Q13586	STIM1	R	429	C	R429C	Pathogenic	1	1	45	9
MUT:STIM1:Asn80Thr	PROT:Q13586	STIM1	N	80	T	N80T	Likely pathogenic	1	1	45	40
MUT:STIM1:Asp84Ala	PROT:Q13586	STIM1	D	84	A	D84A	Likely pathogenic	1	1	45	44
MUT:STIM1:Asp84Glu	PROT:Q13586	STIM1	D	84	E	D84E	Likely pathogenic	1	1	45	44
MUT:STIM1:Asp84Gly	PROT:Q13586	STIM1	D	84	G	D84G	Pathogenic	1	2	45	44
MUT:STIM1:Gln188Arg	PROT:Q13586	STIM1	Q	188	R	Q188R	Likely pathogenic	1	1	45	32
MUT:STIM1:His109Arg	PROT:Q13586	STIM1	H	109	R	H109R	Pathogenic/Likely pathogenic	1	1	45	47
MUT:STIM1:His109Asn	PROT:Q13586	STIM1	H	109	N	H109N	Pathogenic	1	1	45	47
MUT:STIM1:His72Gln	PROT:Q13586	STIM1	H	72	Q	H72Q	Likely pathogenic	1	2	45	32
MUT:STIM1:Ile115Phe	PROT:Q13586	STIM1	I	115	F	I115F	Pathogenic	1	2	45	41
MUT:STIM1:Ile115Thr	PROT:Q13586	STIM1	I	115	T	I115T	Likely pathogenic	1	1	45	41
MUT:STIM1:Leu74Pro	PROT:Q13586	STIM1	L	74	P	L74P	Pathogenic	1	1	45	34
MUT:STIM1:Ser88Gly	PROT:Q13586	STIM1	S	88	G	S88G	Pathogenic/Likely pathogenic	1	1	45	48
MUT:STK32B:Thr163Ala	PROT:Q9NY57	STK32B	T	163	A	T163A	Likely benign	0	1	1	114
MUT:STK4:Arg117Gln	PROT:Q13043	STK4	R	117	Q	R117Q	Likely benign	0	1	42	2
MUT:STK4:Arg332Gln	PROT:Q13043	STK4	R	332	Q	R332Q	Likely benign	0	1	42	3
MUT:STK4:Asn253Ser	PROT:Q13043	STK4	N	253	S	N253S	Benign/Likely benign	0	1	42	7
MUT:STK4:Asp97Glu	PROT:Q13043	STK4	D	97	E	D97E	Likely benign	0	1	42	15
MUT:STK4:Gly379Arg	PROT:Q13043	STK4	G	379	R	G379R	Likely benign	0	1	42	8
MUT:STK4:Ile355Thr	PROT:Q13043	STK4	I	355	T	I355T	Benign	0	1	42	2
MUT:STK4:Met368Val	PROT:Q13043	STK4	M	368	V	M368V	Likely benign	0	1	42	1
MUT:STK4:Pro416Leu	PROT:Q13043	STK4	P	416	L	P416L	Benign/Likely benign	0	1	42	2
MUT:STK4:Val312Met	PROT:Q13043	STK4	V	312	M	V312M	Benign/Likely benign	0	1	42	15
MUT:STN1:Arg135Thr	PROT:Q9H668	STN1	R	135	T	R135T	Pathogenic	1	1	5	41
MUT:STN1:Glu121Lys	PROT:Q9H668	STN1	E	121	K	E121K	Benign/Likely benign	0	1	5	30
MUT:STN1:Leu236Pro	PROT:Q9H668	STN1	L	236	P	L236P	Likely pathogenic	1	1	5	47
MUT:STN1:Ser248Cys	PROT:Q9H668	STN1	S	248	C	S248C	Benign	0	1	5	59
MUT:STN1:Thr131Met	PROT:Q9H668	STN1	T	131	M	T131M	Likely benign	0	1	5	40
MUT:STN1:Thr151Ala	PROT:Q9H668	STN1	T	151	A	T151A	Benign	0	1	5	25
MUT:STOX1:Glu608Asp	PROT:Q6ZVD7	STOX1	E	608	D	E608D	Benign/Likely benign	0	2	6	22
MUT:STRADA:Ala135Thr	PROT:Q7RTN6	STRADA	A	135	T	A135T	Pathogenic	1	1	8	83
MUT:STRADA:Leu170Val	PROT:Q7RTN6	STRADA	L	170	V	L170V	Benign/Likely benign	0	3	8	69
MUT:STRADA:Pro35Leu	PROT:Q7RTN6	STRADA	P	35	L	P35L	Likely benign	0	2	8	11
MUT:STRADA:Pro64Ser	PROT:Q7RTN6	STRADA	P	64	S	P64S	Pathogenic	1	2	8	12
MUT:STRADA:Thr161Ile	PROT:Q7RTN6	STRADA	T	161	I	T161I	Likely benign	0	2	8	78
MUT:STUB1:Ala52Gly	PROT:Q9UNE7	STUB1	A	52	G	A52G	Likely pathogenic	1	1	10	27
MUT:STUB1:Ala67Thr	PROT:Q9UNE7	STUB1	A	67	T	A67T	Pathogenic	1	1	10	42
MUT:STUB1:Ala79Asp	PROT:Q9UNE7	STUB1	A	79	D	A79D	Likely pathogenic	1	2	10	54
MUT:STUB1:Ala79Thr	PROT:Q9UNE7	STUB1	A	79	T	A79T	Pathogenic	1	1	10	54
MUT:STUB1:Arg241Gly	PROT:Q9UNE7	STUB1	R	241	G	R241G	Likely pathogenic	1	1	10	14
MUT:STUB1:Arg241Trp	PROT:Q9UNE7	STUB1	R	241	W	R241W	Likely pathogenic	1	3	10	14
MUT:STUB1:Arg254Gly	PROT:Q9UNE7	STUB1	R	254	G	R254G	Likely pathogenic	1	1	10	1
MUT:STUB1:Asn130Ile	PROT:Q9UNE7	STUB1	N	130	I	N130I	Pathogenic	1	1	10	7
MUT:STUB1:Asn56Lys	PROT:Q9UNE7	STUB1	N	56	K	N56K	Pathogenic	1	1	10	31
MUT:STUB1:Asn65Ser	PROT:Q9UNE7	STUB1	N	65	S	N65S	Likely pathogenic	1	2	10	40
MUT:STUB1:Cys69Trp	PROT:Q9UNE7	STUB1	C	69	W	C69W	Likely pathogenic	1	1	10	44
MUT:STUB1:Gly33Ser	PROT:Q9UNE7	STUB1	G	33	S	G33S	Pathogenic	1	1	10	8
MUT:STUB1:His192Arg	PROT:Q9UNE7	STUB1	H	192	R	H192R	Likely benign	0	1	10	11
MUT:STUB1:Leu123Val	PROT:Q9UNE7	STUB1	L	123	V	L123V	Pathogenic/Likely pathogenic	1	1	10	14
MUT:STUB1:Leu165Phe	PROT:Q9UNE7	STUB1	L	165	F	L165F	Pathogenic	1	1	10	16
MUT:STUB1:Met1Ile	PROT:Q9UNE7	STUB1	M	1	I	M1I	Likely pathogenic	1	1	10	18
MUT:STUB1:Met240Thr	PROT:Q9UNE7	STUB1	M	240	T	M240T	Pathogenic	1	1	10	15
MUT:STUB1:Pro228Ser	PROT:Q9UNE7	STUB1	P	228	S	P228S	Pathogenic	1	1	10	25
MUT:STUB1:Pro57Leu	PROT:Q9UNE7	STUB1	P	57	L	P57L	Likely pathogenic	1	1	10	32
MUT:STUB1:Ser109Asn	PROT:Q9UNE7	STUB1	S	109	N	S109N	Benign/Likely benign	0	1	10	28
MUT:STUB1:Trp147Cys	PROT:Q9UNE7	STUB1	W	147	C	W147C	Pathogenic	1	1	10	2
MUT:STX7:Gln53His	PROT:O15400	STX7	Q	53	H	Q53H	Likely pathogenic	1	1	16	2
MUT:STXBP1:Ala101Val	PROT:P61764	STXBP1	A	101	V	A101V	Benign	0	1	36	9
MUT:STXBP1:Ala177Thr	PROT:P61764	STXBP1	A	177	T	A177T	Likely benign	0	1	36	7
MUT:STXBP1:Ala251Pro	PROT:P61764	STXBP1	A	251	P	A251P	Pathogenic	1	1	36	43
MUT:STXBP1:Ala430Ser	PROT:P61764	STXBP1	A	430	S	A430S	Likely benign	0	1	36	19
MUT:STXBP1:Ala444Val	PROT:P61764	STXBP1	A	444	V	A444V	Likely benign	0	1	36	10
MUT:STXBP1:Ala517Thr	PROT:P61764	STXBP1	A	517	T	A517T	Likely benign	0	1	36	1
MUT:STXBP1:Ala553Pro	PROT:P61764	STXBP1	A	553	P	A553P	Likely pathogenic	1	1	36	21
MUT:STXBP1:Arg122Gln	PROT:P61764	STXBP1	R	122	Q	R122Q	Likely benign	0	1	36	23
MUT:STXBP1:Arg171His	PROT:P61764	STXBP1	R	171	H	R171H	Likely benign	0	1	36	13
MUT:STXBP1:Arg190Trp	PROT:P61764	STXBP1	R	190	W	R190W	Pathogenic	1	4	36	6
MUT:STXBP1:Arg235Gln	PROT:P61764	STXBP1	R	235	Q	R235Q	Pathogenic	1	4	36	27
MUT:STXBP1:Arg275Trp	PROT:P61764	STXBP1	R	275	W	R275W	Likely benign	0	1	36	19
MUT:STXBP1:Arg292Cys	PROT:P61764	STXBP1	R	292	C	R292C	Pathogenic/Likely pathogenic	1	6	36	2
MUT:STXBP1:Arg292His	PROT:P61764	STXBP1	R	292	H	R292H	Pathogenic/Likely pathogenic	1	3	36	2
MUT:STXBP1:Arg292Leu	PROT:P61764	STXBP1	R	292	L	R292L	Pathogenic	1	1	36	2
MUT:STXBP1:Arg292Pro	PROT:P61764	STXBP1	R	292	P	R292P	Likely pathogenic	1	2	36	2
MUT:STXBP1:Arg406Cys	PROT:P61764	STXBP1	R	406	C	R406C	Pathogenic/Likely pathogenic	1	5	36	5
MUT:STXBP1:Arg406Gly	PROT:P61764	STXBP1	R	406	G	R406G	Likely pathogenic	1	1	36	5
MUT:STXBP1:Arg406His	PROT:P61764	STXBP1	R	406	H	R406H	Pathogenic/Likely pathogenic	1	3	36	5
MUT:STXBP1:Arg406Leu	PROT:P61764	STXBP1	R	406	L	R406L	Pathogenic/Likely pathogenic	1	1	36	5
MUT:STXBP1:Arg406Pro	PROT:P61764	STXBP1	R	406	P	R406P	Likely pathogenic	1	1	36	5
MUT:STXBP1:Arg406Ser	PROT:P61764	STXBP1	R	406	S	R406S	Likely pathogenic	1	1	36	5
MUT:STXBP1:Arg458His	PROT:P61764	STXBP1	R	458	H	R458H	Likely benign	0	1	36	3
MUT:STXBP1:Arg464Gly	PROT:P61764	STXBP1	R	464	G	R464G	Likely pathogenic	1	1	36	9
MUT:STXBP1:Arg464Trp	PROT:P61764	STXBP1	R	464	W	R464W	Likely benign	0	1	36	9
MUT:STXBP1:Arg536Cys	PROT:P61764	STXBP1	R	536	C	R536C	Likely benign	0	1	36	20
MUT:STXBP1:Arg551Cys	PROT:P61764	STXBP1	R	551	C	R551C	Pathogenic	1	5	36	23
MUT:STXBP1:Arg551His	PROT:P61764	STXBP1	R	551	H	R551H	Pathogenic/Likely pathogenic	1	3	36	23
MUT:STXBP1:Arg551Leu	PROT:P61764	STXBP1	R	551	L	R551L	Pathogenic	1	1	36	23
MUT:STXBP1:Arg551Ser	PROT:P61764	STXBP1	R	551	S	R551S	Pathogenic/Likely pathogenic	1	1	36	23
MUT:STXBP1:Arg64Cys	PROT:P61764	STXBP1	R	64	C	R64C	Benign	0	1	36	6
MUT:STXBP1:Arg64His	PROT:P61764	STXBP1	R	64	H	R64H	Likely benign	0	1	36	6
MUT:STXBP1:Arg65Ile	PROT:P61764	STXBP1	R	65	I	R65I	Pathogenic	1	1	36	5
MUT:STXBP1:Asn166Ser	PROT:P61764	STXBP1	N	166	S	N166S	Benign/Likely benign	0	2	36	18
MUT:STXBP1:Asn548Asp	PROT:P61764	STXBP1	N	548	D	N548D	Likely pathogenic	1	1	36	26
MUT:STXBP1:Asp207Gly	PROT:P61764	STXBP1	D	207	G	D207G	Likely pathogenic	1	1	36	1
MUT:STXBP1:Asp234Gly	PROT:P61764	STXBP1	D	234	G	D234G	Likely pathogenic	1	1	36	26
MUT:STXBP1:Asp262Glu	PROT:P61764	STXBP1	D	262	E	D262E	Likely benign	0	1	36	32
MUT:STXBP1:Asp262Tyr	PROT:P61764	STXBP1	D	262	Y	D262Y	Likely pathogenic	1	1	36	32
MUT:STXBP1:Asp262Val	PROT:P61764	STXBP1	D	262	V	D262V	Likely pathogenic	1	1	36	32
MUT:STXBP1:Asp286Asn	PROT:P61764	STXBP1	D	286	N	D286N	Likely benign	0	1	36	8
MUT:STXBP1:Cys110Arg	PROT:P61764	STXBP1	C	110	R	C110R	Likely pathogenic	1	2	36	18
MUT:STXBP1:Cys180Tyr	PROT:P61764	STXBP1	C	180	Y	C180Y	Pathogenic	1	1	36	4
MUT:STXBP1:Cys354Arg	PROT:P61764	STXBP1	C	354	R	C354R	Pathogenic	1	2	36	10
MUT:STXBP1:Cys354Gly	PROT:P61764	STXBP1	C	354	G	C354G	Likely pathogenic	1	1	36	10
MUT:STXBP1:Cys354Phe	PROT:P61764	STXBP1	C	354	F	C354F	Likely pathogenic	1	1	36	10
MUT:STXBP1:Cys354Tyr	PROT:P61764	STXBP1	C	354	Y	C354Y	Pathogenic/Likely pathogenic	1	2	36	10
MUT:STXBP1:Cys552Arg	PROT:P61764	STXBP1	C	552	R	C552R	Pathogenic	1	2	36	22
MUT:STXBP1:Cys552Tyr	PROT:P61764	STXBP1	C	552	Y	C552Y	Pathogenic/Likely pathogenic	1	2	36	22
MUT:STXBP1:Gln175Pro	PROT:P61764	STXBP1	Q	175	P	Q175P	Likely benign	0	1	36	9
MUT:STXBP1:Gln250Arg	PROT:P61764	STXBP1	Q	250	R	Q250R	Pathogenic/Likely pathogenic	1	1	36	42
MUT:STXBP1:Gln250Glu	PROT:P61764	STXBP1	Q	250	E	Q250E	Likely pathogenic	1	1	36	42
MUT:STXBP1:Gln370Pro	PROT:P61764	STXBP1	Q	370	P	Q370P	Pathogenic	1	1	36	6
MUT:STXBP1:Glu185Gly	PROT:P61764	STXBP1	E	185	G	E185G	Likely pathogenic	1	1	36	1
MUT:STXBP1:Glu194Asp	PROT:P61764	STXBP1	E	194	D	E194D	Benign	0	1	36	2
MUT:STXBP1:Glu260Lys	PROT:P61764	STXBP1	E	260	K	E260K	Likely benign	0	1	36	34
MUT:STXBP1:Glu283Lys	PROT:P61764	STXBP1	E	283	K	E283K	Pathogenic/Likely pathogenic	1	2	36	11
MUT:STXBP1:Glu470Lys	PROT:P61764	STXBP1	E	470	K	E470K	Likely benign	0	1	36	6
MUT:STXBP1:Glu487Asp	PROT:P61764	STXBP1	E	487	D	E487D	Likely pathogenic	1	1	36	2
MUT:STXBP1:Glu589Lys	PROT:P61764	STXBP1	E	589	K	E589K	Benign	0	1	36	2
MUT:STXBP1:Glu59Lys	PROT:P61764	STXBP1	E	59	K	E59K	Pathogenic	1	1	36	11
MUT:STXBP1:Glu603Asp	PROT:P61764	STXBP1	E	603	D	E603D	Likely pathogenic	1	1	36	9
MUT:STXBP1:Glu603Lys	PROT:P61764	STXBP1	E	603	K	E603K	Likely benign	0	1	36	9
MUT:STXBP1:Gly193Ala	PROT:P61764	STXBP1	G	193	A	G193A	Pathogenic	1	1	36	3
MUT:STXBP1:Gly193Val	PROT:P61764	STXBP1	G	193	V	G193V	Pathogenic	1	1	36	3
MUT:STXBP1:Gly236Val	PROT:P61764	STXBP1	G	236	V	G236V	Likely pathogenic	1	1	36	28
MUT:STXBP1:Gly270Val	PROT:P61764	STXBP1	G	270	V	G270V	Likely benign	0	1	36	24
MUT:STXBP1:Gly272Arg	PROT:P61764	STXBP1	G	272	R	G272R	Likely benign	0	1	36	22
MUT:STXBP1:Gly375Asp	PROT:P61764	STXBP1	G	375	D	G375D	Likely benign	0	1	36	1
MUT:STXBP1:Gly417Arg	PROT:P61764	STXBP1	G	417	R	G417R	Pathogenic	1	1	36	6
MUT:STXBP1:Gly417Ser	PROT:P61764	STXBP1	G	417	S	G417S	Likely pathogenic	1	1	36	6
MUT:STXBP1:Gly529Ser	PROT:P61764	STXBP1	G	529	S	G529S	Benign	0	1	36	13
MUT:STXBP1:Gly543Arg	PROT:P61764	STXBP1	G	543	R	G543R	Pathogenic	1	1	36	27
MUT:STXBP1:Gly544Arg	PROT:P61764	STXBP1	G	544	R	G544R	Pathogenic	1	1	36	28
MUT:STXBP1:Gly544Asp	PROT:P61764	STXBP1	G	544	D	G544D	Pathogenic	1	2	36	28
MUT:STXBP1:Gly544Cys	PROT:P61764	STXBP1	G	544	C	G544C	Pathogenic	1	1	36	28
MUT:STXBP1:Gly544Ser	PROT:P61764	STXBP1	G	544	S	G544S	Likely pathogenic	1	1	36	28
MUT:STXBP1:Gly544Val	PROT:P61764	STXBP1	G	544	V	G544V	Pathogenic	1	2	36	28
MUT:STXBP1:Gly568Arg	PROT:P61764	STXBP1	G	568	R	G568R	Pathogenic	1	1	36	6
MUT:STXBP1:His103Pro	PROT:P61764	STXBP1	H	103	P	H103P	Likely pathogenic	1	1	36	11
MUT:STXBP1:His160Asn	PROT:P61764	STXBP1	H	160	N	H160N	Benign	0	1	36	15
MUT:STXBP1:His245Arg	PROT:P61764	STXBP1	H	245	R	H245R	Pathogenic	1	3	36	37
MUT:STXBP1:His245Asn	PROT:P61764	STXBP1	H	245	N	H245N	Pathogenic	1	1	36	37
MUT:STXBP1:His347Asp	PROT:P61764	STXBP1	H	347	D	H347D	Likely pathogenic	1	1	36	8
MUT:STXBP1:His85Tyr	PROT:P61764	STXBP1	H	85	Y	H85Y	Benign	0	1	36	7
MUT:STXBP1:Ile168Val	PROT:P61764	STXBP1	I	168	V	I168V	Benign	0	1	36	16
MUT:STXBP1:Ile427Met	PROT:P61764	STXBP1	I	427	M	I427M	Likely benign	0	1	36	16
MUT:STXBP1:Ile439Asn	PROT:P61764	STXBP1	I	439	N	I439N	Likely pathogenic	1	1	36	15
MUT:STXBP1:Ile485Thr	PROT:P61764	STXBP1	I	485	T	I485T	Pathogenic	1	1	36	2
MUT:STXBP1:Ile572Met	PROT:P61764	STXBP1	I	572	M	I572M	Likely benign	0	1	36	2
MUT:STXBP1:Ile61Thr	PROT:P61764	STXBP1	I	61	T	I61T	Likely benign	0	1	36	9
MUT:STXBP1:Leu281Pro	PROT:P61764	STXBP1	L	281	P	L281P	Pathogenic/Likely pathogenic	1	1	36	13
MUT:STXBP1:Leu287Pro	PROT:P61764	STXBP1	L	287	P	L287P	Likely pathogenic	1	1	36	7
MUT:STXBP1:Leu31Pro	PROT:P61764	STXBP1	L	31	P	L31P	Likely pathogenic	1	1	36	11
MUT:STXBP1:Leu348Pro	PROT:P61764	STXBP1	L	348	P	L348P	Likely pathogenic	1	1	36	9
MUT:STXBP1:Leu372Met	PROT:P61764	STXBP1	L	372	M	L372M	Likely benign	0	1	36	4
MUT:STXBP1:Leu41Arg	PROT:P61764	STXBP1	L	41	R	L41R	Pathogenic	1	1	36	1
MUT:STXBP1:Leu41Gln	PROT:P61764	STXBP1	L	41	Q	L41Q	Likely pathogenic	1	1	36	1
MUT:STXBP1:Leu426Arg	PROT:P61764	STXBP1	L	426	R	L426R	Likely pathogenic	1	2	36	15
MUT:STXBP1:Leu426Pro	PROT:P61764	STXBP1	L	426	P	L426P	Pathogenic	1	2	36	15
MUT:STXBP1:Leu446Phe	PROT:P61764	STXBP1	L	446	F	L446F	Pathogenic	1	1	36	8
MUT:STXBP1:Leu87His	PROT:P61764	STXBP1	L	87	H	L87H	Likely pathogenic	1	1	36	5
MUT:STXBP1:Lys314Asn	PROT:P61764	STXBP1	K	314	N	K314N	Benign	0	1	36	0
MUT:STXBP1:Lys46Glu	PROT:P61764	STXBP1	K	46	E	K46E	Likely pathogenic	1	1	36	3
MUT:STXBP1:Lys497Arg	PROT:P61764	STXBP1	K	497	R	K497R	Likely benign	0	1	36	8
MUT:STXBP1:Met1Arg	PROT:P61764	STXBP1	M	1	R	M1R	Pathogenic/Likely pathogenic	1	2	36	6
MUT:STXBP1:Met252Thr	PROT:P61764	STXBP1	M	252	T	M252T	Pathogenic	1	2	36	42
MUT:STXBP1:Met252Val	PROT:P61764	STXBP1	M	252	V	M252V	Likely pathogenic	1	1	36	42
MUT:STXBP1:Met316Ile	PROT:P61764	STXBP1	M	316	I	M316I	Likely benign	0	1	36	2
MUT:STXBP1:Met443Arg	PROT:P61764	STXBP1	M	443	R	M443R	Pathogenic	1	1	36	11
MUT:STXBP1:Met486Arg	PROT:P61764	STXBP1	M	486	R	M486R	Likely pathogenic	1	1	36	3
MUT:STXBP1:Met486Thr	PROT:P61764	STXBP1	M	486	T	M486T	Pathogenic	1	1	36	3
MUT:STXBP1:Met51Val	PROT:P61764	STXBP1	M	51	V	M51V	Benign	0	1	36	8
MUT:STXBP1:Met550Arg	PROT:P61764	STXBP1	M	550	R	M550R	Pathogenic	1	1	36	24
MUT:STXBP1:Met602Val	PROT:P61764	STXBP1	M	602	V	M602V	Benign/Likely benign	0	2	36	8
MUT:STXBP1:Pro139Gln	PROT:P61764	STXBP1	P	139	Q	P139Q	Pathogenic	1	1	36	6
MUT:STXBP1:Pro139Leu	PROT:P61764	STXBP1	P	139	L	P139L	Pathogenic/Likely pathogenic	1	3	36	6
MUT:STXBP1:Pro187Leu	PROT:P61764	STXBP1	P	187	L	P187L	Pathogenic/Likely pathogenic	1	3	36	3
MUT:STXBP1:Pro335Ser	PROT:P61764	STXBP1	P	335	S	P335S	Pathogenic/Likely pathogenic	1	2	36	2
MUT:STXBP1:Pro462Leu	PROT:P61764	STXBP1	P	462	L	P462L	Likely benign	0	1	36	7
MUT:STXBP1:Pro480Leu	PROT:P61764	STXBP1	P	480	L	P480L	Pathogenic	1	3	36	1
MUT:STXBP1:Pro480Ser	PROT:P61764	STXBP1	P	480	S	P480S	Likely pathogenic	1	2	36	1
MUT:STXBP1:Pro67Leu	PROT:P61764	STXBP1	P	67	L	P67L	Likely benign	0	1	36	3
MUT:STXBP1:Pro79Leu	PROT:P61764	STXBP1	P	79	L	P79L	Likely pathogenic	1	1	36	9
MUT:STXBP1:Pro94Leu	PROT:P61764	STXBP1	P	94	L	P94L	Benign/Likely benign	0	2	36	2
MUT:STXBP1:Ser155Asn	PROT:P61764	STXBP1	S	155	N	S155N	Benign	0	1	36	10
MUT:STXBP1:Ser241Phe	PROT:P61764	STXBP1	S	241	F	S241F	Likely pathogenic	1	1	36	33
MUT:STXBP1:Ser42Cys	PROT:P61764	STXBP1	S	42	C	S42C	Likely pathogenic	1	1	36	0
MUT:STXBP1:Ser42Pro	PROT:P61764	STXBP1	S	42	P	S42P	Pathogenic/Likely pathogenic	1	2	36	0
MUT:STXBP1:Ser42Tyr	PROT:P61764	STXBP1	S	42	Y	S42Y	Likely pathogenic	1	1	36	0
MUT:STXBP1:Ser569Phe	PROT:P61764	STXBP1	S	569	F	S569F	Likely pathogenic	1	1	36	5
MUT:STXBP1:Thr129Pro	PROT:P61764	STXBP1	T	129	P	T129P	Likely pathogenic	1	1	36	16
MUT:STXBP1:Thr131Met	PROT:P61764	STXBP1	T	131	M	T131M	Benign/Likely benign	0	2	36	14
MUT:STXBP1:Thr361Ile	PROT:P61764	STXBP1	T	361	I	T361I	Likely pathogenic	1	1	36	3
MUT:STXBP1:Thr401Ile	PROT:P61764	STXBP1	T	401	I	T401I	Benign	0	1	36	10
MUT:STXBP1:Thr419Pro	PROT:P61764	STXBP1	T	419	P	T419P	Benign	0	1	36	8
MUT:STXBP1:Thr56Arg	PROT:P61764	STXBP1	T	56	R	T56R	Pathogenic	1	1	36	13
MUT:STXBP1:Thr574Pro	PROT:P61764	STXBP1	T	574	P	T574P	Pathogenic	1	1	36	0
MUT:STXBP1:Trp288Arg	PROT:P61764	STXBP1	W	288	R	W288R	Likely pathogenic	1	2	36	6
MUT:STXBP1:Tyr145Cys	PROT:P61764	STXBP1	Y	145	C	Y145C	Pathogenic/Likely pathogenic	1	2	36	0
MUT:STXBP1:Tyr145His	PROT:P61764	STXBP1	Y	145	H	Y145H	Likely pathogenic	1	1	36	0
MUT:STXBP1:Tyr554Ser	PROT:P61764	STXBP1	Y	554	S	Y554S	Likely pathogenic	1	1	36	20
MUT:STXBP1:Tyr75Cys	PROT:P61764	STXBP1	Y	75	C	Y75C	Likely pathogenic	1	2	36	5
MUT:STXBP1:Tyr75His	PROT:P61764	STXBP1	Y	75	H	Y75H	Pathogenic	1	1	36	5
MUT:STXBP1:Tyr99Cys	PROT:P61764	STXBP1	Y	99	C	Y99C	Likely pathogenic	1	1	36	7
MUT:STXBP1:Val18Met	PROT:P61764	STXBP1	V	18	M	V18M	Likely benign	0	1	36	5
MUT:STXBP1:Val30Met	PROT:P61764	STXBP1	V	30	M	V30M	Likely pathogenic	1	1	36	12
MUT:STXBP1:Val33Glu	PROT:P61764	STXBP1	V	33	E	V33E	Likely pathogenic	1	1	36	9
MUT:STXBP1:Val451Ile	PROT:P61764	STXBP1	V	451	I	V451I	Benign/Likely benign	0	2	36	3
MUT:STXBP1:Val515Ile	PROT:P61764	STXBP1	V	515	I	V515I	Benign	0	1	36	1
MUT:STXBP1:Val545Met	PROT:P61764	STXBP1	V	545	M	V545M	Likely benign	0	1	36	29
MUT:STXBP1:Val84Asp	PROT:P61764	STXBP1	V	84	D	V84D	Pathogenic	1	1	36	8
MUT:STXBP1:Val9Ile	PROT:P61764	STXBP1	V	9	I	V9I	Benign	0	1	36	2
MUT:SUCLA2:Ala307Val	PROT:Q9P2R7	SUCLA2	A	307	V	A307V	Pathogenic/Likely pathogenic	1	2	22	5
MUT:SUCLA2:Arg284Cys	PROT:Q9P2R7	SUCLA2	R	284	C	R284C	Pathogenic/Likely pathogenic	1	1	22	2
MUT:SUCLA2:Asp272His	PROT:Q9P2R7	SUCLA2	D	272	H	D272H	Likely pathogenic	1	1	22	7
MUT:SUCLA2:Asp333Gly	PROT:Q9P2R7	SUCLA2	D	333	G	D333G	Pathogenic/Likely pathogenic	1	1	22	8
MUT:SUCLA2:Asp333Tyr	PROT:Q9P2R7	SUCLA2	D	333	Y	D333Y	Likely pathogenic	1	1	22	8
MUT:SUCLA2:Asp367Asn	PROT:Q9P2R7	SUCLA2	D	367	N	D367N	Benign	0	1	22	26
MUT:SUCLA2:Gly118Arg	PROT:Q9P2R7	SUCLA2	G	118	R	G118R	Pathogenic	1	1	22	2
MUT:SUCLA2:Ile86Val	PROT:Q9P2R7	SUCLA2	I	86	V	I86V	Benign/Likely benign	0	1	22	2
MUT:SUCLA2:Leu37Trp	PROT:Q9P2R7	SUCLA2	L	37	W	L37W	Benign	0	1	22	41
MUT:SUCLA2:Met271Val	PROT:Q9P2R7	SUCLA2	M	271	V	M271V	Benign/Likely benign	0	2	22	8
MUT:SUCLA2:Ser199Thr	PROT:Q9P2R7	SUCLA2	S	199	T	S199T	Benign	0	1	22	17
MUT:SUCLA2:Val13Met	PROT:Q9P2R7	SUCLA2	V	13	M	V13M	Benign/Likely benign	0	1	22	65
MUT:SUCLG1:Ala209Glu	PROT:P53597	SUCLG1	A	209	E	A209E	Pathogenic	1	1	12	17
MUT:SUCLG1:Glu263Lys	PROT:P53597	SUCLG1	E	263	K	E263K	Likely pathogenic	1	1	12	45
MUT:SUCLG1:Gly85Ala	PROT:P53597	SUCLG1	G	85	A	G85A	Pathogenic	1	1	12	2
MUT:SUCLG1:His40Arg	PROT:P53597	SUCLG1	H	40	R	H40R	Likely benign	0	1	12	14
MUT:SUCLG1:Lys81Arg	PROT:P53597	SUCLG1	K	81	R	K81R	Likely benign	0	1	12	0
MUT:SUCLG1:Met14Thr	PROT:P53597	SUCLG1	M	14	T	M14T	Likely pathogenic	1	1	12	40
MUT:SUCLG1:Pro170Arg	PROT:P53597	SUCLG1	P	170	R	P170R	Pathogenic	1	1	12	12
MUT:SUCLG1:Val153Glu	PROT:P53597	SUCLG1	V	153	E	V153E	Pathogenic	1	1	12	29
MUT:SUFU:Ala340Ser	PROT:Q9UMX1	SUFU	A	340	S	A340S	Benign/Likely benign	0	3	15	2
MUT:SUFU:Asp350Gly	PROT:Q9UMX1	SUFU	D	350	G	D350G	Likely benign	0	1	15	1
MUT:SUFU:Asp47Ala	PROT:Q9UMX1	SUFU	D	47	A	D47A	Likely benign	0	1	15	210
MUT:SUFU:Gly8Val	PROT:Q9UMX1	SUFU	G	8	V	G8V	Likely benign	0	1	15	249
MUT:SUFU:His176Arg	PROT:Q9UMX1	SUFU	H	176	R	H176R	Pathogenic	1	1	15	81
MUT:SUFU:Ile433Val	PROT:Q9UMX1	SUFU	I	433	V	I433V	Likely benign	0	1	15	24
MUT:SUFU:Lys442Glu	PROT:Q9UMX1	SUFU	K	442	E	K442E	Likely benign	0	1	15	15
MUT:SUFU:Met1Lys	PROT:Q9UMX1	SUFU	M	1	K	M1K	Likely pathogenic	1	1	15	256
MUT:SUFU:Thr13Ala	PROT:Q9UMX1	SUFU	T	13	A	T13A	Likely benign	0	1	15	244
MUT:SUFU:Thr21Ser	PROT:Q9UMX1	SUFU	T	21	S	T21S	Likely benign	0	1	15	236
MUT:SUFU:Thr353Ala	PROT:Q9UMX1	SUFU	T	353	A	T353A	Likely benign	0	1	15	0
MUT:SUGCT:Thr409Met	PROT:Q9HAC7	SUGCT	T	409	M	T409M	Benign/Likely benign	0	1	1	85
MUT:SULF1:Ala222Thr	PROT:Q8IWU6	SULF1	A	222	T	A222T	Likely benign	0	1	5	63
MUT:SULF1:Ala223Val	PROT:Q8IWU6	SULF1	A	223	V	A223V	Likely benign	0	1	5	62
MUT:SULF1:Glu563Asp	PROT:Q8IWU6	SULF1	E	563	D	E563D	Likely benign	0	1	5	85
MUT:SULT2B1:Arg100Trp	PROT:O00204	SULT2B1	R	100	W	R100W	Likely pathogenic	1	1	5	32
MUT:SULT2B1:Arg274Gln	PROT:O00204	SULT2B1	R	274	Q	R274Q	Pathogenic	1	3	5	1
MUT:SULT2B1:Arg33Gln	PROT:O00204	SULT2B1	R	33	Q	R33Q	Benign	0	1	5	99
MUT:SULT2B1:Glu78Lys	PROT:O00204	SULT2B1	E	78	K	E78K	Likely pathogenic	1	1	5	54
MUT:SULT2B1:Leu51Ser	PROT:O00204	SULT2B1	L	51	S	L51S	Benign/Likely benign	0	1	5	81
MUT:SULT2B1:Pro10Leu	PROT:O00204	SULT2B1	P	10	L	P10L	Benign	0	1	5	122
MUT:SULT2B1:Pro149Leu	PROT:O00204	SULT2B1	P	149	L	P149L	Pathogenic	1	2	5	17
MUT:SULT2B1:Ser347Pro	PROT:O00204	SULT2B1	S	347	P	S347P	Likely benign	0	1	5	0
MUT:SULT2B1:Val240Ile	PROT:O00204	SULT2B1	V	240	I	V240I	Benign	0	1	5	35
MUT:SUN2:Ala162Val	PROT:Q9UH99	SUN2	A	162	V	A162V	Benign	0	3	25	46
MUT:SUN2:Arg10Cys	PROT:Q9UH99	SUN2	R	10	C	R10C	Likely benign	0	1	25	1
MUT:SUN2:Arg154Gln	PROT:Q9UH99	SUN2	R	154	Q	R154Q	Likely benign	0	1	25	38
MUT:SUN2:Arg156Gln	PROT:Q9UH99	SUN2	R	156	Q	R156Q	Likely benign	0	1	25	40
MUT:SUN2:Arg279Gln	PROT:Q9UH99	SUN2	R	279	Q	R279Q	Likely benign	0	2	25	21
MUT:SUN2:Arg348Cys	PROT:Q9UH99	SUN2	R	348	C	R348C	Benign	0	1	25	4
MUT:SUN2:Arg348His	PROT:Q9UH99	SUN2	R	348	H	R348H	Likely benign	0	1	25	4
MUT:SUN2:Arg52His	PROT:Q9UH99	SUN2	R	52	H	R52H	Benign	0	1	25	2
MUT:SUN2:Arg620Cys	PROT:Q9UH99	SUN2	R	620	C	R620C	Likely benign	0	1	25	106
MUT:SUN2:Asp258Gly	PROT:Q9UH99	SUN2	D	258	G	D258G	Likely benign	0	2	25	42
MUT:SUN2:Asp452Asn	PROT:Q9UH99	SUN2	D	452	N	D452N	Likely benign	0	1	25	43
MUT:SUN2:Gly671Ser	PROT:Q9UH99	SUN2	G	671	S	G671S	Benign	0	1	25	157
MUT:SUN2:Ile531Val	PROT:Q9UH99	SUN2	I	531	V	I531V	Benign	0	1	25	17
MUT:SUN2:Leu411Val	PROT:Q9UH99	SUN2	L	411	V	L411V	Likely benign	0	1	25	2
MUT:SUN2:Leu89Arg	PROT:Q9UH99	SUN2	L	89	R	L89R	Benign	0	1	25	4
MUT:SUN2:Pro219Leu	PROT:Q9UH99	SUN2	P	219	L	P219L	Benign	0	1	25	81
MUT:SUN2:Pro458Ser	PROT:Q9UH99	SUN2	P	458	S	P458S	Benign	0	1	25	44
MUT:SUN2:Thr212Met	PROT:Q9UH99	SUN2	T	212	M	T212M	Likely benign	0	1	25	88
MUT:SUN2:Thr33Ala	PROT:Q9UH99	SUN2	T	33	A	T33A	Benign	0	1	25	0
MUT:SUN2:Thr514Met	PROT:Q9UH99	SUN2	T	514	M	T514M	Likely benign	0	1	25	0
MUT:SUN2:Val378Ile	PROT:Q9UH99	SUN2	V	378	I	V378I	Benign	0	1	25	3
MUT:SUN2:Val449Met	PROT:Q9UH99	SUN2	V	449	M	V449M	Benign	0	1	25	40
MUT:SUPT7L:Arg27Gln	PROT:O94864	SUPT7L	R	27	Q	R27Q	Pathogenic	1	1	12	6
MUT:SURF1:Ala56Gly	PROT:Q15526	SURF1	A	56	G	A56G	Benign/Likely benign	0	1	1	4
MUT:SURF1:Arg192Gln	PROT:Q15526	SURF1	R	192	Q	R192Q	Pathogenic/Likely pathogenic	1	2	1	140
MUT:SURF1:Arg192Pro	PROT:Q15526	SURF1	R	192	P	R192P	Likely pathogenic	1	1	1	140
MUT:SURF1:Arg192Trp	PROT:Q15526	SURF1	R	192	W	R192W	Pathogenic/Likely pathogenic	1	3	1	140
MUT:SURF1:Arg295Cys	PROT:Q15526	SURF1	R	295	C	R295C	Benign/Likely benign	0	2	1	243
MUT:SURF1:Gln196Arg	PROT:Q15526	SURF1	Q	196	R	Q196R	Likely pathogenic	1	1	1	144
MUT:SURF1:Gln80His	PROT:Q15526	SURF1	Q	80	H	Q80H	Pathogenic	1	2	1	28
MUT:SURF1:Gly124Arg	PROT:Q15526	SURF1	G	124	R	G124R	Likely pathogenic	1	2	1	72
MUT:SURF1:Gly124Glu	PROT:Q15526	SURF1	G	124	E	G124E	Pathogenic	1	2	1	72
MUT:SURF1:Gly180Arg	PROT:Q15526	SURF1	G	180	R	G180R	Likely pathogenic	1	1	1	128
MUT:SURF1:Gly195Asp	PROT:Q15526	SURF1	G	195	D	G195D	Likely pathogenic	1	1	1	143
MUT:SURF1:Gly257Arg	PROT:Q15526	SURF1	G	257	R	G257R	Pathogenic/Likely pathogenic	1	1	1	205
MUT:SURF1:Gly257Glu	PROT:Q15526	SURF1	G	257	E	G257E	Likely pathogenic	1	1	1	205
MUT:SURF1:Gly260Glu	PROT:Q15526	SURF1	G	260	E	G260E	Likely pathogenic	1	1	1	208
MUT:SURF1:Leu90Pro	PROT:Q15526	SURF1	L	90	P	L90P	Pathogenic/Likely pathogenic	1	1	1	38
MUT:SURF1:Met1Ile	PROT:Q15526	SURF1	M	1	I	M1I	Pathogenic	1	1	1	51
MUT:SURF1:Met1Leu	PROT:Q15526	SURF1	M	1	L	M1L	Pathogenic	1	1	1	51
MUT:SURF1:Met1Val	PROT:Q15526	SURF1	M	1	V	M1V	Pathogenic	1	1	1	51
MUT:SURF1:Pro258Ser	PROT:Q15526	SURF1	P	258	S	P258S	Pathogenic	1	1	1	206
MUT:SURF1:Thr164Ile	PROT:Q15526	SURF1	T	164	I	T164I	Likely pathogenic	1	2	1	112
MUT:SURF1:Trp227Arg	PROT:Q15526	SURF1	W	227	R	W227R	Pathogenic	1	2	1	175
MUT:SURF1:Tyr274Asp	PROT:Q15526	SURF1	Y	274	D	Y274D	Pathogenic	1	1	1	222
MUT:SURF1:Tyr274Cys	PROT:Q15526	SURF1	Y	274	C	Y274C	Pathogenic	1	1	1	222
MUT:SURF1:Val177Ala	PROT:Q15526	SURF1	V	177	A	V177A	Likely pathogenic	1	1	1	125
MUT:SURF1:Val177Gly	PROT:Q15526	SURF1	V	177	G	V177G	Likely pathogenic	1	1	1	125
MUT:SUZ12:Ala34Gly	PROT:Q15022	SUZ12	A	34	G	A34G	Likely benign	0	1	20	58
MUT:SUZ12:Asn366Ser	PROT:Q15022	SUZ12	N	366	S	N366S	Likely benign	0	1	20	9
MUT:SUZ12:Gln411His	PROT:Q15022	SUZ12	Q	411	H	Q411H	Likely benign	0	2	20	7
MUT:SUZ12:Glu610Gln	PROT:Q15022	SUZ12	E	610	Q	E610Q	Pathogenic	1	1	20	6
MUT:SUZ12:Glu610Val	PROT:Q15022	SUZ12	E	610	V	E610V	Pathogenic	1	1	20	6
MUT:SUZ12:Leu660Pro	PROT:Q15022	SUZ12	L	660	P	L660P	Likely pathogenic	1	1	20	27
MUT:SUZ12:Phe603Leu	PROT:Q15022	SUZ12	F	603	L	F603L	Pathogenic	1	1	20	1
MUT:SUZ12:Ser350Phe	PROT:Q15022	SUZ12	S	350	F	S350F	Likely pathogenic	1	1	20	9
MUT:SUZ12:Ser45Gly	PROT:Q15022	SUZ12	S	45	G	S45G	Likely benign	0	1	20	47
MUT:SUZ12:Ser726Asn	PROT:Q15022	SUZ12	S	726	N	S726N	Likely benign	0	1	20	31
MUT:SYCP2L:Ile333Met	PROT:Q5T4T6	SYCP2L	I	333	M	I333M	Pathogenic	1	1	1	275
MUT:SYNC:Asp338Asn	PROT:Q9H7C4	SYNC	D	338	N	D338N	Likely benign	0	1	2	13
MUT:SYNGAP1:Ala1045Gly	PROT:Q96PV0	SYNGAP1	A	1045	G	A1045G	Benign/Likely benign	0	2	10	28
MUT:SYNGAP1:Ala1102Thr	PROT:Q96PV0	SYNGAP1	A	1102	T	A1102T	Benign	0	1	10	23
MUT:SYNGAP1:Ala1102Val	PROT:Q96PV0	SYNGAP1	A	1102	V	A1102V	Benign	0	1	10	23
MUT:SYNGAP1:Ala1322Pro	PROT:Q96PV0	SYNGAP1	A	1322	P	A1322P	Benign	0	1	10	116
MUT:SYNGAP1:Ala195Pro	PROT:Q96PV0	SYNGAP1	A	195	P	A195P	Likely pathogenic	1	1	10	96
MUT:SYNGAP1:Ala232Thr	PROT:Q96PV0	SYNGAP1	A	232	T	A232T	Benign	0	1	10	59
MUT:SYNGAP1:Ala236Val	PROT:Q96PV0	SYNGAP1	A	236	V	A236V	Benign/Likely benign	0	1	10	55
MUT:SYNGAP1:Ala271Asp	PROT:Q96PV0	SYNGAP1	A	271	D	A271D	Pathogenic	1	1	10	20
MUT:SYNGAP1:Ala399Thr	PROT:Q96PV0	SYNGAP1	A	399	T	A399T	Benign	0	1	10	14
MUT:SYNGAP1:Ala537Val	PROT:Q96PV0	SYNGAP1	A	537	V	A537V	Likely benign	0	1	10	71
MUT:SYNGAP1:Ala577Gly	PROT:Q96PV0	SYNGAP1	A	577	G	A577G	Benign/Likely benign	0	1	10	105
MUT:SYNGAP1:Ala577Thr	PROT:Q96PV0	SYNGAP1	A	577	T	A577T	Benign	0	1	10	105
MUT:SYNGAP1:Ala784Thr	PROT:Q96PV0	SYNGAP1	A	784	T	A784T	Benign	0	1	10	102
MUT:SYNGAP1:Ala879Lys	PROT:Q96PV0	SYNGAP1	A	879	K	A879K	Likely benign	0	1	10	194
MUT:SYNGAP1:Ala902Thr	PROT:Q96PV0	SYNGAP1	A	902	T	A902T	Likely benign	0	1	10	171
MUT:SYNGAP1:Arg104Leu	PROT:Q96PV0	SYNGAP1	R	104	L	R104L	Benign	0	1	10	17
MUT:SYNGAP1:Arg1103His	PROT:Q96PV0	SYNGAP1	R	1103	H	R1103H	Benign/Likely benign	0	1	10	24
MUT:SYNGAP1:Arg1265Thr	PROT:Q96PV0	SYNGAP1	R	1265	T	R1265T	Likely pathogenic	1	1	10	59
MUT:SYNGAP1:Arg1274His	PROT:Q96PV0	SYNGAP1	R	1274	H	R1274H	Likely benign	0	1	10	68
MUT:SYNGAP1:Arg1308His	PROT:Q96PV0	SYNGAP1	R	1308	H	R1308H	Likely benign	0	1	10	102
MUT:SYNGAP1:Arg136Gln	PROT:Q96PV0	SYNGAP1	R	136	Q	R136Q	Benign	0	1	10	49
MUT:SYNGAP1:Arg162Cys	PROT:Q96PV0	SYNGAP1	R	162	C	R162C	Pathogenic	1	1	10	75
MUT:SYNGAP1:Arg170Gln	PROT:Q96PV0	SYNGAP1	R	170	Q	R170Q	Pathogenic/Likely pathogenic	1	1	10	83
MUT:SYNGAP1:Arg248Pro	PROT:Q96PV0	SYNGAP1	R	248	P	R248P	Likely pathogenic	1	1	10	43
MUT:SYNGAP1:Arg258His	PROT:Q96PV0	SYNGAP1	R	258	H	R258H	Benign/Likely benign	0	1	10	33
MUT:SYNGAP1:Arg293Pro	PROT:Q96PV0	SYNGAP1	R	293	P	R293P	Likely pathogenic	1	1	10	2
MUT:SYNGAP1:Arg321His	PROT:Q96PV0	SYNGAP1	R	321	H	R321H	Benign	0	1	10	30
MUT:SYNGAP1:Arg356Cys	PROT:Q96PV0	SYNGAP1	R	356	C	R356C	Likely benign	0	1	10	23
MUT:SYNGAP1:Arg356His	PROT:Q96PV0	SYNGAP1	R	356	H	R356H	Likely benign	0	1	10	23
MUT:SYNGAP1:Arg479Gln	PROT:Q96PV0	SYNGAP1	R	479	Q	R479Q	Likely benign	0	1	10	13
MUT:SYNGAP1:Arg485His	PROT:Q96PV0	SYNGAP1	R	485	H	R485H	Likely benign	0	1	10	19
MUT:SYNGAP1:Arg573Leu	PROT:Q96PV0	SYNGAP1	R	573	L	R573L	Likely pathogenic	1	1	10	107
MUT:SYNGAP1:Arg573Trp	PROT:Q96PV0	SYNGAP1	R	573	W	R573W	Pathogenic/Likely pathogenic	1	2	10	107
MUT:SYNGAP1:Arg596His	PROT:Q96PV0	SYNGAP1	R	596	H	R596H	Likely benign	0	1	10	86
MUT:SYNGAP1:Arg621Gln	PROT:Q96PV0	SYNGAP1	R	621	Q	R621Q	Likely benign	0	1	10	61
MUT:SYNGAP1:Arg687Gln	PROT:Q96PV0	SYNGAP1	R	687	Q	R687Q	Likely benign	0	1	10	5
MUT:SYNGAP1:Arg749Gln	PROT:Q96PV0	SYNGAP1	R	749	Q	R749Q	Likely benign	0	1	10	67
MUT:SYNGAP1:Arg749Trp	PROT:Q96PV0	SYNGAP1	R	749	W	R749W	Likely benign	0	1	10	67
MUT:SYNGAP1:Arg775Pro	PROT:Q96PV0	SYNGAP1	R	775	P	R775P	Benign	0	2	10	93
MUT:SYNGAP1:Arg815His	PROT:Q96PV0	SYNGAP1	R	815	H	R815H	Likely benign	0	2	10	133
MUT:SYNGAP1:Arg815Ser	PROT:Q96PV0	SYNGAP1	R	815	S	R815S	Benign	0	1	10	133
MUT:SYNGAP1:Arg890Cys	PROT:Q96PV0	SYNGAP1	R	890	C	R890C	Benign	0	1	10	183
MUT:SYNGAP1:Arg890His	PROT:Q96PV0	SYNGAP1	R	890	H	R890H	Benign	0	1	10	183
MUT:SYNGAP1:Arg890Pro	PROT:Q96PV0	SYNGAP1	R	890	P	R890P	Likely benign	0	1	10	183
MUT:SYNGAP1:Arg922Gln	PROT:Q96PV0	SYNGAP1	R	922	Q	R922Q	Benign	0	1	10	151
MUT:SYNGAP1:Arg967Gln	PROT:Q96PV0	SYNGAP1	R	967	Q	R967Q	Benign/Likely benign	0	1	10	106
MUT:SYNGAP1:Asn1213Ser	PROT:Q96PV0	SYNGAP1	N	1213	S	N1213S	Benign	0	1	10	7
MUT:SYNGAP1:Asn256Ser	PROT:Q96PV0	SYNGAP1	N	256	S	N256S	Likely pathogenic	1	1	10	35
MUT:SYNGAP1:Asn542Ser	PROT:Q96PV0	SYNGAP1	N	542	S	N542S	Likely benign	0	1	10	76
MUT:SYNGAP1:Asn556Ile	PROT:Q96PV0	SYNGAP1	N	556	I	N556I	Likely benign	0	1	10	90
MUT:SYNGAP1:Asn764Ser	PROT:Q96PV0	SYNGAP1	N	764	S	N764S	Benign	0	1	10	82
MUT:SYNGAP1:Asp1016Glu	PROT:Q96PV0	SYNGAP1	D	1016	E	D1016E	Likely benign	0	1	10	57
MUT:SYNGAP1:Asp1026Glu	PROT:Q96PV0	SYNGAP1	D	1026	E	D1026E	Benign	0	1	10	47
MUT:SYNGAP1:Asp287His	PROT:Q96PV0	SYNGAP1	D	287	H	D287H	Likely pathogenic	1	1	10	4
MUT:SYNGAP1:Asp287Tyr	PROT:Q96PV0	SYNGAP1	D	287	Y	D287Y	Likely pathogenic	1	1	10	4
MUT:SYNGAP1:Asp720Asn	PROT:Q96PV0	SYNGAP1	D	720	N	D720N	Likely benign	0	1	10	38
MUT:SYNGAP1:Cys282Arg	PROT:Q96PV0	SYNGAP1	C	282	R	C282R	Pathogenic	1	1	10	9
MUT:SYNGAP1:Cys547Tyr	PROT:Q96PV0	SYNGAP1	C	547	Y	C547Y	Pathogenic	1	1	10	81
MUT:SYNGAP1:Cys576Arg	PROT:Q96PV0	SYNGAP1	C	576	R	C576R	Pathogenic/Likely pathogenic	1	1	10	106
MUT:SYNGAP1:Gln361Pro	PROT:Q96PV0	SYNGAP1	Q	361	P	Q361P	Likely pathogenic	1	2	10	18
MUT:SYNGAP1:Glu1189Asp	PROT:Q96PV0	SYNGAP1	E	1189	D	E1189D	Likely benign	0	1	10	17
MUT:SYNGAP1:Glu1336Asp	PROT:Q96PV0	SYNGAP1	E	1336	D	E1336D	Likely benign	0	1	10	130
MUT:SYNGAP1:Glu221Val	PROT:Q96PV0	SYNGAP1	E	221	V	E221V	Likely pathogenic	1	1	10	70
MUT:SYNGAP1:Glu310Asp	PROT:Q96PV0	SYNGAP1	E	310	D	E310D	Likely pathogenic	1	1	10	19
MUT:SYNGAP1:Glu310Gly	PROT:Q96PV0	SYNGAP1	E	310	G	E310G	Pathogenic	1	1	10	19
MUT:SYNGAP1:Glu310Lys	PROT:Q96PV0	SYNGAP1	E	310	K	E310K	Pathogenic/Likely pathogenic	1	1	10	19
MUT:SYNGAP1:Glu313Lys	PROT:Q96PV0	SYNGAP1	E	313	K	E313K	Likely benign	0	1	10	22
MUT:SYNGAP1:Glu519Ala	PROT:Q96PV0	SYNGAP1	E	519	A	E519A	Likely pathogenic	1	1	10	53
MUT:SYNGAP1:Glu666Gly	PROT:Q96PV0	SYNGAP1	E	666	G	E666G	Likely benign	0	1	10	16
MUT:SYNGAP1:Glu75Lys	PROT:Q96PV0	SYNGAP1	E	75	K	E75K	Benign/Likely benign	0	1	10	12
MUT:SYNGAP1:Glu829Lys	PROT:Q96PV0	SYNGAP1	E	829	K	E829K	Pathogenic	1	1	10	147
MUT:SYNGAP1:Glu970Gly	PROT:Q96PV0	SYNGAP1	E	970	G	E970G	Benign	0	1	10	103
MUT:SYNGAP1:Gly1051Asp	PROT:Q96PV0	SYNGAP1	G	1051	D	G1051D	Benign	0	1	10	22
MUT:SYNGAP1:Gly1051Cys	PROT:Q96PV0	SYNGAP1	G	1051	C	G1051C	Likely pathogenic	1	1	10	22
MUT:SYNGAP1:Gly1054Ser	PROT:Q96PV0	SYNGAP1	G	1054	S	G1054S	Benign	0	1	10	19
MUT:SYNGAP1:Gly1060Val	PROT:Q96PV0	SYNGAP1	G	1060	V	G1060V	Benign	0	1	10	13
MUT:SYNGAP1:Gly1119Arg	PROT:Q96PV0	SYNGAP1	G	1119	R	G1119R	Benign	0	1	10	40
MUT:SYNGAP1:Gly1122Ser	PROT:Q96PV0	SYNGAP1	G	1122	S	G1122S	Benign/Likely benign	0	1	10	43
MUT:SYNGAP1:Gly26Arg	PROT:Q96PV0	SYNGAP1	G	26	R	G26R	Benign	0	1	10	61
MUT:SYNGAP1:Gly344Ser	PROT:Q96PV0	SYNGAP1	G	344	S	G344S	Pathogenic	1	2	10	35
MUT:SYNGAP1:Gly391Val	PROT:Q96PV0	SYNGAP1	G	391	V	G391V	Likely benign	0	1	10	6
MUT:SYNGAP1:Gly511Arg	PROT:Q96PV0	SYNGAP1	G	511	R	G511R	Pathogenic	1	1	10	45
MUT:SYNGAP1:Gly915Ser	PROT:Q96PV0	SYNGAP1	G	915	S	G915S	Benign	0	1	10	158
MUT:SYNGAP1:Gly940Arg	PROT:Q96PV0	SYNGAP1	G	940	R	G940R	Benign	0	1	10	133
MUT:SYNGAP1:Gly944Ser	PROT:Q96PV0	SYNGAP1	G	944	S	G944S	Benign/Likely benign	0	1	10	129
MUT:SYNGAP1:Gly946Glu	PROT:Q96PV0	SYNGAP1	G	946	E	G946E	Benign	0	1	10	127
MUT:SYNGAP1:Gly949Ser	PROT:Q96PV0	SYNGAP1	G	949	S	G949S	Benign/Likely benign	0	1	10	124
MUT:SYNGAP1:His1137Pro	PROT:Q96PV0	SYNGAP1	H	1137	P	H1137P	Benign	0	1	10	58
MUT:SYNGAP1:His168Tyr	PROT:Q96PV0	SYNGAP1	H	168	Y	H168Y	Benign	0	1	10	81
MUT:SYNGAP1:His481Tyr	PROT:Q96PV0	SYNGAP1	H	481	Y	H481Y	Likely benign	0	1	10	15
MUT:SYNGAP1:His951Arg	PROT:Q96PV0	SYNGAP1	H	951	R	H951R	Likely pathogenic	1	1	10	122
MUT:SYNGAP1:His958Pro	PROT:Q96PV0	SYNGAP1	H	958	P	H958P	Benign	0	1	10	115
MUT:SYNGAP1:Ile1115Thr	PROT:Q96PV0	SYNGAP1	I	1115	T	I1115T	Benign	0	2	10	36
MUT:SYNGAP1:Ile1133Val	PROT:Q96PV0	SYNGAP1	I	1133	V	I1133V	Benign	0	1	10	54
MUT:SYNGAP1:Ile411Val	PROT:Q96PV0	SYNGAP1	I	411	V	I411V	Likely benign	0	1	10	26
MUT:SYNGAP1:Ile494Arg	PROT:Q96PV0	SYNGAP1	I	494	R	I494R	Likely pathogenic	1	1	10	28
MUT:SYNGAP1:Ile630Val	PROT:Q96PV0	SYNGAP1	I	630	V	I630V	Benign/Likely benign	0	1	10	52
MUT:SYNGAP1:Ile899Val	PROT:Q96PV0	SYNGAP1	I	899	V	I899V	Benign	0	1	10	174
MUT:SYNGAP1:Leu1311Pro	PROT:Q96PV0	SYNGAP1	L	1311	P	L1311P	Likely benign	0	1	10	105
MUT:SYNGAP1:Leu284Pro	PROT:Q96PV0	SYNGAP1	L	284	P	L284P	Likely pathogenic	1	1	10	7
MUT:SYNGAP1:Leu323Arg	PROT:Q96PV0	SYNGAP1	L	323	R	L323R	Likely pathogenic	1	1	10	32
MUT:SYNGAP1:Leu327Pro	PROT:Q96PV0	SYNGAP1	L	327	P	L327P	Pathogenic/Likely pathogenic	1	2	10	36
MUT:SYNGAP1:Leu402Arg	PROT:Q96PV0	SYNGAP1	L	402	R	L402R	Likely pathogenic	1	1	10	17
MUT:SYNGAP1:Leu431Pro	PROT:Q96PV0	SYNGAP1	L	431	P	L431P	Likely pathogenic	1	1	10	35
MUT:SYNGAP1:Leu451Pro	PROT:Q96PV0	SYNGAP1	L	451	P	L451P	Likely pathogenic	1	1	10	15
MUT:SYNGAP1:Leu465Pro	PROT:Q96PV0	SYNGAP1	L	465	P	L465P	Likely pathogenic	1	1	10	1
MUT:SYNGAP1:Leu500Pro	PROT:Q96PV0	SYNGAP1	L	500	P	L500P	Pathogenic	1	1	10	34
MUT:SYNGAP1:Leu506Pro	PROT:Q96PV0	SYNGAP1	L	506	P	L506P	Likely pathogenic	1	1	10	40
MUT:SYNGAP1:Leu543Pro	PROT:Q96PV0	SYNGAP1	L	543	P	L543P	Likely pathogenic	1	1	10	77
MUT:SYNGAP1:Leu551Pro	PROT:Q96PV0	SYNGAP1	L	551	P	L551P	Likely pathogenic	1	1	10	85
MUT:SYNGAP1:Leu633Pro	PROT:Q96PV0	SYNGAP1	L	633	P	L633P	Pathogenic/Likely pathogenic	1	1	10	49
MUT:SYNGAP1:Leu664Ser	PROT:Q96PV0	SYNGAP1	L	664	S	L664S	Likely benign	0	1	10	18
MUT:SYNGAP1:Leu692Gln	PROT:Q96PV0	SYNGAP1	L	692	Q	L692Q	Pathogenic	1	1	10	10
MUT:SYNGAP1:Leu696Pro	PROT:Q96PV0	SYNGAP1	L	696	P	L696P	Likely pathogenic	1	1	10	14
MUT:SYNGAP1:Lys642Thr	PROT:Q96PV0	SYNGAP1	K	642	T	K642T	Likely pathogenic	1	1	10	40
MUT:SYNGAP1:Met1211Lys	PROT:Q96PV0	SYNGAP1	M	1211	K	M1211K	Likely benign	0	1	10	5
MUT:SYNGAP1:Met1211Val	PROT:Q96PV0	SYNGAP1	M	1211	V	M1211V	Benign	0	1	10	5
MUT:SYNGAP1:Met289Val	PROT:Q96PV0	SYNGAP1	M	289	V	M289V	Benign	0	1	10	2
MUT:SYNGAP1:Met468Lys	PROT:Q96PV0	SYNGAP1	M	468	K	M468K	Likely pathogenic	1	1	10	2
MUT:SYNGAP1:Met470Leu	PROT:Q96PV0	SYNGAP1	M	470	L	M470L	Likely benign	0	1	10	4
MUT:SYNGAP1:Met781Ile	PROT:Q96PV0	SYNGAP1	M	781	I	M781I	Benign	0	1	10	99
MUT:SYNGAP1:Met783Ile	PROT:Q96PV0	SYNGAP1	M	783	I	M783I	Benign	0	1	10	101
MUT:SYNGAP1:Met904Val	PROT:Q96PV0	SYNGAP1	M	904	V	M904V	Likely benign	0	1	10	169
MUT:SYNGAP1:Phe1017Leu	PROT:Q96PV0	SYNGAP1	F	1017	L	F1017L	Benign	0	1	10	56
MUT:SYNGAP1:Phe156Cys	PROT:Q96PV0	SYNGAP1	F	156	C	F156C	Likely benign	0	1	10	69
MUT:SYNGAP1:Phe420Ser	PROT:Q96PV0	SYNGAP1	F	420	S	F420S	Likely pathogenic	1	1	10	35
MUT:SYNGAP1:Phe569Ser	PROT:Q96PV0	SYNGAP1	F	569	S	F569S	Likely pathogenic	1	1	10	103
MUT:SYNGAP1:Pro1034Ala	PROT:Q96PV0	SYNGAP1	P	1034	A	P1034A	Benign	0	1	10	39
MUT:SYNGAP1:Pro1065Leu	PROT:Q96PV0	SYNGAP1	P	1065	L	P1065L	Likely benign	0	1	10	8
MUT:SYNGAP1:Pro1066Leu	PROT:Q96PV0	SYNGAP1	P	1066	L	P1066L	Likely benign	0	1	10	7
MUT:SYNGAP1:Pro1066Ser	PROT:Q96PV0	SYNGAP1	P	1066	S	P1066S	Likely pathogenic	1	1	10	7
MUT:SYNGAP1:Pro1097Leu	PROT:Q96PV0	SYNGAP1	P	1097	L	P1097L	Benign	0	1	10	18
MUT:SYNGAP1:Pro1104Ser	PROT:Q96PV0	SYNGAP1	P	1104	S	P1104S	Benign	0	1	10	25
MUT:SYNGAP1:Pro1283Leu	PROT:Q96PV0	SYNGAP1	P	1283	L	P1283L	Benign	0	1	10	77
MUT:SYNGAP1:Pro1307Leu	PROT:Q96PV0	SYNGAP1	P	1307	L	P1307L	Benign	0	1	10	101
MUT:SYNGAP1:Pro1314Leu	PROT:Q96PV0	SYNGAP1	P	1314	L	P1314L	Likely benign	0	1	10	108
MUT:SYNGAP1:Pro1321Gln	PROT:Q96PV0	SYNGAP1	P	1321	Q	P1321Q	Benign	0	1	10	115
MUT:SYNGAP1:Pro1324Ser	PROT:Q96PV0	SYNGAP1	P	1324	S	P1324S	Likely benign	0	1	10	118
MUT:SYNGAP1:Pro298Ser	PROT:Q96PV0	SYNGAP1	P	298	S	P298S	Benign	0	1	10	7
MUT:SYNGAP1:Pro562Leu	PROT:Q96PV0	SYNGAP1	P	562	L	P562L	Pathogenic/Likely pathogenic	1	3	10	96
MUT:SYNGAP1:Pro66Ser	PROT:Q96PV0	SYNGAP1	P	66	S	P66S	Benign	0	1	10	21
MUT:SYNGAP1:Pro715Ser	PROT:Q96PV0	SYNGAP1	P	715	S	P715S	Likely pathogenic	1	1	10	33
MUT:SYNGAP1:Pro787Thr	PROT:Q96PV0	SYNGAP1	P	787	T	P787T	Likely benign	0	1	10	105
MUT:SYNGAP1:Pro794Leu	PROT:Q96PV0	SYNGAP1	P	794	L	P794L	Benign/Likely benign	0	1	10	112
MUT:SYNGAP1:Pro954Ser	PROT:Q96PV0	SYNGAP1	P	954	S	P954S	Likely benign	0	1	10	119
MUT:SYNGAP1:Pro996Arg	PROT:Q96PV0	SYNGAP1	P	996	R	P996R	Benign	0	1	10	77
MUT:SYNGAP1:Ser1007Asn	PROT:Q96PV0	SYNGAP1	S	1007	N	S1007N	Benign	0	1	10	66
MUT:SYNGAP1:Ser1079Arg	PROT:Q96PV0	SYNGAP1	S	1079	R	S1079R	Benign	0	1	10	0
MUT:SYNGAP1:Ser1110Gly	PROT:Q96PV0	SYNGAP1	S	1110	G	S1110G	Likely benign	0	1	10	31
MUT:SYNGAP1:Ser1132Tyr	PROT:Q96PV0	SYNGAP1	S	1132	Y	S1132Y	Likely benign	0	1	10	53
MUT:SYNGAP1:Ser1142Pro	PROT:Q96PV0	SYNGAP1	S	1142	P	S1142P	Likely benign	0	1	10	63
MUT:SYNGAP1:Ser235Pro	PROT:Q96PV0	SYNGAP1	S	235	P	S235P	Likely pathogenic	1	1	10	56
MUT:SYNGAP1:Ser379Leu	PROT:Q96PV0	SYNGAP1	S	379	L	S379L	Benign	0	1	10	0
MUT:SYNGAP1:Ser535Thr	PROT:Q96PV0	SYNGAP1	S	535	T	S535T	Benign	0	1	10	69
MUT:SYNGAP1:Ser677Cys	PROT:Q96PV0	SYNGAP1	S	677	C	S677C	Benign	0	1	10	5
MUT:SYNGAP1:Ser738Arg	PROT:Q96PV0	SYNGAP1	S	738	R	S738R	Benign	0	1	10	56
MUT:SYNGAP1:Ser907Cys	PROT:Q96PV0	SYNGAP1	S	907	C	S907C	Likely benign	0	1	10	166
MUT:SYNGAP1:Ser983Asn	PROT:Q96PV0	SYNGAP1	S	983	N	S983N	Likely benign	0	1	10	90
MUT:SYNGAP1:Thr1310Met	PROT:Q96PV0	SYNGAP1	T	1310	M	T1310M	Benign	0	1	10	104
MUT:SYNGAP1:Thr1332Met	PROT:Q96PV0	SYNGAP1	T	1332	M	T1332M	Likely benign	0	1	10	126
MUT:SYNGAP1:Thr352Asn	PROT:Q96PV0	SYNGAP1	T	352	N	T352N	Likely benign	0	1	10	27
MUT:SYNGAP1:Thr532Pro	PROT:Q96PV0	SYNGAP1	T	532	P	T532P	Benign	0	1	10	66
MUT:SYNGAP1:Thr640Ser	PROT:Q96PV0	SYNGAP1	T	640	S	T640S	Benign	0	1	10	42
MUT:SYNGAP1:Thr672Ala	PROT:Q96PV0	SYNGAP1	T	672	A	T672A	Benign	0	1	10	10
MUT:SYNGAP1:Thr691Pro	PROT:Q96PV0	SYNGAP1	T	691	P	T691P	Likely pathogenic	1	1	10	9
MUT:SYNGAP1:Trp308Cys	PROT:Q96PV0	SYNGAP1	W	308	C	W308C	Pathogenic/Likely pathogenic	1	1	10	17
MUT:SYNGAP1:Trp308Leu	PROT:Q96PV0	SYNGAP1	W	308	L	W308L	Pathogenic	1	1	10	17
MUT:SYNGAP1:Trp362Arg	PROT:Q96PV0	SYNGAP1	W	362	R	W362R	Pathogenic	1	1	10	17
MUT:SYNGAP1:Trp572Ser	PROT:Q96PV0	SYNGAP1	W	572	S	W572S	Pathogenic	1	1	10	106
MUT:SYNGAP1:Trp697Arg	PROT:Q96PV0	SYNGAP1	W	697	R	W697R	Likely benign	0	1	10	15
MUT:SYNGAP1:Tyr342Cys	PROT:Q96PV0	SYNGAP1	Y	342	C	Y342C	Benign/Likely benign	0	1	10	37
MUT:SYNGAP1:Tyr505Asp	PROT:Q96PV0	SYNGAP1	Y	505	D	Y505D	Likely pathogenic	1	1	10	39
MUT:SYNGAP1:Tyr505His	PROT:Q96PV0	SYNGAP1	Y	505	H	Y505H	Likely pathogenic	1	1	10	39
MUT:SYNGAP1:Val400Leu	PROT:Q96PV0	SYNGAP1	V	400	L	V400L	Benign/Likely benign	0	1	10	15
MUT:SYNGAP1:Val860Ile	PROT:Q96PV0	SYNGAP1	V	860	I	V860I	Benign/Likely benign	0	1	10	178
MUT:SYNJ1:Ala344Thr	PROT:O43426	SYNJ1	A	344	T	A344T	Likely benign	0	1	29	47
MUT:SYNJ1:Arg219Gln	PROT:O43426	SYNJ1	R	219	Q	R219Q	Pathogenic	1	3	29	62
MUT:SYNJ1:Arg420Pro	PROT:O43426	SYNJ1	R	420	P	R420P	Pathogenic	1	1	29	29
MUT:SYNJ1:Arg800Cys	PROT:O43426	SYNJ1	R	800	C	R800C	Likely pathogenic	1	1	29	24
MUT:SYNJ1:Asp334Gly	PROT:O43426	SYNJ1	D	334	G	D334G	Benign	0	2	29	50
MUT:SYNJ1:Ser349Gly	PROT:O43426	SYNJ1	S	349	G	S349G	Likely benign	0	1	29	42
MUT:SYNJ1:Thr1197Met	PROT:O43426	SYNJ1	T	1197	M	T1197M	Likely benign	0	1	29	20
MUT:SYT1:Asn371Lys	PROT:P21579	SYT1	N	371	K	N371K	Pathogenic/Likely pathogenic	1	2	17	1
MUT:SYT1:Asp304Gly	PROT:P21579	SYT1	D	304	G	D304G	Pathogenic/Likely pathogenic	1	2	17	2
MUT:SYT1:Asp304Val	PROT:P21579	SYT1	D	304	V	D304V	Likely pathogenic	1	1	17	2
MUT:SYT1:Asp310Asn	PROT:P21579	SYT1	D	310	N	D310N	Pathogenic/Likely pathogenic	1	1	17	1
MUT:SYT1:Asp310Glu	PROT:P21579	SYT1	D	310	E	D310E	Pathogenic	1	1	17	1
MUT:SYT1:Asp364Asn	PROT:P21579	SYT1	D	364	N	D364N	Likely pathogenic	1	1	17	1
MUT:SYT1:Asp366Glu	PROT:P21579	SYT1	D	366	E	D366E	Pathogenic/Likely pathogenic	1	3	17	1
MUT:SYT1:Gly242Arg	PROT:P21579	SYT1	G	242	R	G242R	Likely pathogenic	1	1	17	5
MUT:SYT1:Gly307Asp	PROT:P21579	SYT1	G	307	D	G307D	Likely pathogenic	1	1	17	2
MUT:SYT1:Ile368Thr	PROT:P21579	SYT1	I	368	T	I368T	Pathogenic/Likely pathogenic	1	2	17	2
MUT:SYT1:Leu159Arg	PROT:P21579	SYT1	L	159	R	L159R	Likely pathogenic	1	1	17	22
MUT:SYT1:Met303Lys	PROT:P21579	SYT1	M	303	K	M303K	Pathogenic/Likely pathogenic	1	2	17	1
MUT:SYT1:Pro311Ser	PROT:P21579	SYT1	P	311	S	P311S	Likely pathogenic	1	1	17	1
MUT:SYT1:Ser309Phe	PROT:P21579	SYT1	S	309	F	S309F	Pathogenic/Likely pathogenic	1	1	17	0
MUT:SYT1:Tyr312Cys	PROT:P21579	SYT1	Y	312	C	Y312C	Likely pathogenic	1	1	17	0
MUT:SYT1:Val184Ala	PROT:P21579	SYT1	V	184	A	V184A	Likely pathogenic	1	1	17	3
MUT:SYT1:Val420Ala	PROT:P21579	SYT1	V	420	A	V420A	Likely benign	0	1	17	44
MUT:SYT2:Asp307Ala	PROT:Q8N9I0	SYT2	D	307	A	D307A	Pathogenic	1	1	7	1
MUT:SYT2:Glu339Asp	PROT:Q8N9I0	SYT2	E	339	D	E339D	Likely pathogenic	1	1	7	23
MUT:SYT2:Ile371Lys	PROT:Q8N9I0	SYT2	I	371	K	I371K	Pathogenic	1	1	7	7
MUT:SYT2:Leu365Pro	PROT:Q8N9I0	SYT2	L	365	P	L365P	Pathogenic	1	1	7	1
MUT:SYTL5:Arg302His	PROT:Q8TDW5	SYTL5	R	302	H	R302H	Benign	0	1	4	45
MUT:SYTL5:Asn98Ser	PROT:Q8TDW5	SYTL5	N	98	S	N98S	Likely benign	0	1	4	49
MUT:SYTL5:Thr316Ile	PROT:Q8TDW5	SYTL5	T	316	I	T316I	Likely benign	0	1	4	31
MUT:SZT2:Ala1280Thr	PROT:Q5T011	SZT2	A	1280	T	A1280T	Likely benign	0	1	2	1170
MUT:SZT2:Ala944Gly	PROT:Q5T011	SZT2	A	944	G	A944G	Likely benign	0	1	2	1506
MUT:SZT2:Arg1065Gln	PROT:Q5T011	SZT2	R	1065	Q	R1065Q	Benign	0	1	2	1385
MUT:SZT2:Arg1733His	PROT:Q5T011	SZT2	R	1733	H	R1733H	Benign	0	1	2	717
MUT:SZT2:Arg2242Trp	PROT:Q5T011	SZT2	R	2242	W	R2242W	Likely pathogenic	1	1	2	208
MUT:SZT2:Arg2419Gln	PROT:Q5T011	SZT2	R	2419	Q	R2419Q	Benign/Likely benign	0	1	2	31
MUT:SZT2:Arg2752His	PROT:Q5T011	SZT2	R	2752	H	R2752H	Likely benign	0	1	2	301
MUT:SZT2:Arg3261Gln	PROT:Q5T011	SZT2	R	3261	Q	R3261Q	Benign/Likely benign	0	2	2	810
MUT:SZT2:Gln166His	PROT:Q5T011	SZT2	Q	166	H	Q166H	Likely pathogenic	1	1	2	2284
MUT:SZT2:Glu2371Val	PROT:Q5T011	SZT2	E	2371	V	E2371V	Pathogenic	1	1	2	79
MUT:SZT2:Glu860Lys	PROT:Q5T011	SZT2	E	860	K	E860K	Benign	0	1	2	1590
MUT:SZT2:Gly1844Arg	PROT:Q5T011	SZT2	G	1844	R	G1844R	Pathogenic	1	1	2	606
MUT:SZT2:Gly2570Arg	PROT:Q5T011	SZT2	G	2570	R	G2570R	Benign/Likely benign	0	1	2	119
MUT:SZT2:His2607Arg	PROT:Q5T011	SZT2	H	2607	R	H2607R	Likely benign	0	1	2	156
MUT:SZT2:Leu2370Pro	PROT:Q5T011	SZT2	L	2370	P	L2370P	Likely pathogenic	1	1	2	80
MUT:SZT2:Phe35Leu	PROT:Q5T011	SZT2	F	35	L	F35L	Pathogenic	1	1	2	2415
MUT:SZT2:Pro1020Ser	PROT:Q5T011	SZT2	P	1020	S	P1020S	Likely benign	0	1	2	1430
MUT:SZT2:Pro1084Leu	PROT:Q5T011	SZT2	P	1084	L	P1084L	Likely benign	0	2	2	1366
MUT:SZT2:Pro1119Ala	PROT:Q5T011	SZT2	P	1119	A	P1119A	Likely benign	0	2	2	1331
MUT:SZT2:Pro1157Ser	PROT:Q5T011	SZT2	P	1157	S	P1157S	Benign/Likely benign	0	1	2	1293
MUT:SZT2:Pro2115Leu	PROT:Q5T011	SZT2	P	2115	L	P2115L	Likely benign	0	1	2	335
MUT:SZT2:Pro2901Leu	PROT:Q5T011	SZT2	P	2901	L	P2901L	Benign/Likely benign	0	1	2	450
MUT:SZT2:Pro446Ser	PROT:Q5T011	SZT2	P	446	S	P446S	Benign	0	1	2	2004
MUT:SZT2:Ser1845Arg	PROT:Q5T011	SZT2	S	1845	R	S1845R	Benign	0	1	2	605
MUT:SZT2:Ser2778Cys	PROT:Q5T011	SZT2	S	2778	C	S2778C	Pathogenic	1	1	2	327
MUT:SZT2:Ser499Ile	PROT:Q5T011	SZT2	S	499	I	S499I	Pathogenic	1	1	2	1951
MUT:SZT2:Ser962Asn	PROT:Q5T011	SZT2	S	962	N	S962N	Likely benign	0	1	2	1488
MUT:SZT2:Thr1631Pro	PROT:Q5T011	SZT2	T	1631	P	T1631P	Likely benign	0	1	2	819
MUT:SZT2:Thr1692Ile	PROT:Q5T011	SZT2	T	1692	I	T1692I	Benign/Likely benign	0	1	2	758
MUT:SZT2:Trp1351Arg	PROT:Q5T011	SZT2	W	1351	R	W1351R	Benign	0	1	2	1099
MUT:SZT2:Trp2666Gly	PROT:Q5T011	SZT2	W	2666	G	W2666G	Pathogenic	1	1	2	215
MUT:SZT2:Val1511Ile	PROT:Q5T011	SZT2	V	1511	I	V1511I	Benign/Likely benign	0	2	2	939
MUT:SZT2:Val1840Leu	PROT:Q5T011	SZT2	V	1840	L	V1840L	Likely benign	0	1	2	610
MUT:SZT2:Val1980Met	PROT:Q5T011	SZT2	V	1980	M	V1980M	Pathogenic	1	1	2	470
MUT:SZT2:Val2294Gly	PROT:Q5T011	SZT2	V	2294	G	V2294G	Likely pathogenic	1	1	2	156
MUT:SZT2:Val2521Ala	PROT:Q5T011	SZT2	V	2521	A	V2521A	Benign/Likely benign	0	2	2	70
MUT:SZT2:Val2525Ile	PROT:Q5T011	SZT2	V	2525	I	V2525I	Benign/Likely benign	0	1	2	74
MUT:TAB2:Asn337Ser	PROT:Q9NYJ8	TAB2	N	337	S	N337S	Likely benign	0	1	14	35
MUT:TAB2:Pro183Leu	PROT:Q9NYJ8	TAB2	P	183	L	P183L	Likely pathogenic	1	1	14	189
MUT:TAB2:Pro208Ser	PROT:Q9NYJ8	TAB2	P	208	S	P208S	Pathogenic	1	1	14	164
MUT:TACO1:Arg165Lys	PROT:Q9BSH4	TACO1	R	165	K	R165K	Likely benign	0	1	1	5
MUT:TACO1:Gly145Ser	PROT:Q9BSH4	TACO1	G	145	S	G145S	Benign	0	2	1	25
MUT:TACSTD2:Asp173Ala	PROT:P09758	TACSTD2	D	173	A	D173A	Benign	0	1	6	51
MUT:TACSTD2:Asp216Glu	PROT:P09758	TACSTD2	D	216	E	D216E	Benign	0	1	6	8
MUT:TACSTD2:Cys119Ser	PROT:P09758	TACSTD2	C	119	S	C119S	Pathogenic	1	1	6	105
MUT:TACSTD2:Glu147Asp	PROT:P09758	TACSTD2	E	147	D	E147D	Benign	0	1	6	77
MUT:TACSTD2:Glu227Lys	PROT:P09758	TACSTD2	E	227	K	E227K	Likely pathogenic	1	1	6	2
MUT:TACSTD2:Ile297Val	PROT:P09758	TACSTD2	I	297	V	I297V	Benign	0	1	6	6
MUT:TACSTD2:Leu186Pro	PROT:P09758	TACSTD2	L	186	P	L186P	Pathogenic	1	1	6	38
MUT:TACSTD2:Met1Arg	PROT:P09758	TACSTD2	M	1	R	M1R	Pathogenic	1	1	6	223
MUT:TAF2:Leu3Pro	PROT:Q6P1X5	TAF2	L	3	P	L3P	Likely benign	0	1	22	19
MUT:TAF2:Pro8Leu	PROT:Q6P1X5	TAF2	P	8	L	P8L	Benign	0	1	22	14
MUT:TAF2:Ser1039Asn	PROT:Q6P1X5	TAF2	S	1039	N	S1039N	Likely benign	0	1	22	31
MUT:TAF2:Ser1122Asn	PROT:Q6P1X5	TAF2	S	1122	N	S1122N	Benign	0	1	22	22
MUT:TAF2:Ser447Thr	PROT:Q6P1X5	TAF2	S	447	T	S447T	Benign	0	1	22	25
MUT:TAF2:Thr1139Ala	PROT:Q6P1X5	TAF2	T	1139	A	T1139A	Benign	0	1	22	39
MUT:TAF2:Trp649Arg	PROT:Q6P1X5	TAF2	W	649	R	W649R	Pathogenic	1	1	22	62
MUT:TAF2:Tyr552Phe	PROT:Q6P1X5	TAF2	Y	552	F	Y552F	Likely benign	0	1	22	7
MUT:TAF2:Tyr794Asn	PROT:Q6P1X5	TAF2	Y	794	N	Y794N	Pathogenic/Likely pathogenic	1	1	22	4
MUT:TAL1:Ala27Gly	PROT:P17542	TAL1	A	27	G	A27G	Likely benign	0	1	4	15
MUT:TAL1:Gly62Arg	PROT:P17542	TAL1	G	62	R	G62R	Likely benign	0	1	4	50
MUT:TANC1:Lys1176Arg	PROT:Q9C0D5	TANC1	K	1176	R	K1176R	Likely benign	0	17	35	33
MUT:TANC2:Ala231Glu	PROT:Q9HCD6	TANC2	A	231	E	A231E	Likely benign	0	1	45	21
MUT:TANC2:Ala240Ser	PROT:Q9HCD6	TANC2	A	240	S	A240S	Likely benign	0	1	45	12
MUT:TANC2:Arg1443His	PROT:Q9HCD6	TANC2	R	1443	H	R1443H	Likely benign	0	1	45	1
MUT:TANC2:Arg1534Gln	PROT:Q9HCD6	TANC2	R	1534	Q	R1534Q	Likely benign	0	1	45	11
MUT:TANC2:Arg40Cys	PROT:Q9HCD6	TANC2	R	40	C	R40C	Likely benign	0	1	45	123
MUT:TANC2:Arg43Cys	PROT:Q9HCD6	TANC2	R	43	C	R43C	Likely benign	0	1	45	120
MUT:TANC2:Asp1228Gly	PROT:Q9HCD6	TANC2	D	1228	G	D1228G	Likely benign	0	1	45	56
MUT:TANC2:Glu1453Lys	PROT:Q9HCD6	TANC2	E	1453	K	E1453K	Likely benign	0	1	45	5
MUT:TANC2:Ile1539Val	PROT:Q9HCD6	TANC2	I	1539	V	I1539V	Likely benign	0	1	45	6
MUT:TANC2:Ile1735Thr	PROT:Q9HCD6	TANC2	I	1735	T	I1735T	Likely benign	0	1	45	3
MUT:TANC2:Ile1748Val	PROT:Q9HCD6	TANC2	I	1748	V	I1748V	Likely benign	0	1	45	0
MUT:TANC2:Ile227Ser	PROT:Q9HCD6	TANC2	I	227	S	I227S	Benign	0	5	45	25
MUT:TANC2:Leu66Pro	PROT:Q9HCD6	TANC2	L	66	P	L66P	Likely benign	0	1	45	97
MUT:TANC2:Lys18Arg	PROT:Q9HCD6	TANC2	K	18	R	K18R	Likely benign	0	1	45	145
MUT:TANC2:Met974Val	PROT:Q9HCD6	TANC2	M	974	V	M974V	Likely benign	0	2	45	310
MUT:TANC2:Phe1866Val	PROT:Q9HCD6	TANC2	F	1866	V	F1866V	Likely benign	0	1	45	37
MUT:TANC2:Pro1617Leu	PROT:Q9HCD6	TANC2	P	1617	L	P1617L	Likely benign	0	1	45	2
MUT:TANC2:Pro1617Thr	PROT:Q9HCD6	TANC2	P	1617	T	P1617T	Likely benign	0	1	45	2
MUT:TANC2:Ser1221Pro	PROT:Q9HCD6	TANC2	S	1221	P	S1221P	Likely benign	0	1	45	63
MUT:TANC2:Ser186Asn	PROT:Q9HCD6	TANC2	S	186	N	S186N	Likely benign	0	1	45	7
MUT:TANC2:Ser69Asn	PROT:Q9HCD6	TANC2	S	69	N	S69N	Likely benign	0	1	45	94
MUT:TANC2:Ser923Pro	PROT:Q9HCD6	TANC2	S	923	P	S923P	Likely benign	0	1	45	282
MUT:TANC2:Thr1050Met	PROT:Q9HCD6	TANC2	T	1050	M	T1050M	Likely benign	0	1	45	234
MUT:TANC2:Thr919Ala	PROT:Q9HCD6	TANC2	T	919	A	T919A	Likely benign	0	1	45	278
MUT:TANC2:Tyr1271Cys	PROT:Q9HCD6	TANC2	Y	1271	C	Y1271C	Likely benign	0	1	45	13
MUT:TANC2:Tyr1809Cys	PROT:Q9HCD6	TANC2	Y	1809	C	Y1809C	Likely benign	0	1	45	10
MUT:TANC2:Val1289Ala	PROT:Q9HCD6	TANC2	V	1289	A	V1289A	Likely benign	0	1	45	5
MUT:TANC2:Val1711Ile	PROT:Q9HCD6	TANC2	V	1711	I	V1711I	Likely benign	0	1	45	3
MUT:TANC2:Val1752Ile	PROT:Q9HCD6	TANC2	V	1752	I	V1752I	Likely benign	0	1	45	4
MUT:TANC2:Val1752Leu	PROT:Q9HCD6	TANC2	V	1752	L	V1752L	Likely benign	0	1	45	4
MUT:TANC2:Val1793Met	PROT:Q9HCD6	TANC2	V	1793	M	V1793M	Likely benign	0	1	45	26
MUT:TAOK2:Arg1163Gln	PROT:Q9UL54	TAOK2	R	1163	Q	R1163Q	Likely benign	0	1	19	336
MUT:TAOK2:Arg1211His	PROT:Q9UL54	TAOK2	R	1211	H	R1211H	Benign	0	1	19	384
MUT:TAOK2:Arg1226His	PROT:Q9UL54	TAOK2	R	1226	H	R1226H	Likely benign	0	1	19	399
MUT:TAOK2:Asn980Tyr	PROT:Q9UL54	TAOK2	N	980	Y	N980Y	Likely benign	0	1	19	153
MUT:TAOK2:Pro441Leu	PROT:Q9UL54	TAOK2	P	441	L	P441L	Likely benign	0	1	19	27
MUT:TAOK2:Val1129Ile	PROT:Q9UL54	TAOK2	V	1129	I	V1129I	Likely benign	0	1	19	302
MUT:TAPT1:Asp353Val	PROT:Q6NXT6	TAPT1	D	353	V	D353V	Pathogenic	1	1	12	35
MUT:TAPT1:Gly166Cys	PROT:Q6NXT6	TAPT1	G	166	C	G166C	Benign	0	3	12	76
MUT:TAPT1:Ile503Val	PROT:Q6NXT6	TAPT1	I	503	V	I503V	Likely benign	0	1	12	1
MUT:TAPT1:Leu46Arg	PROT:Q6NXT6	TAPT1	L	46	R	L46R	Benign/Likely benign	0	1	12	44
MUT:TARDBP:Ala315Thr	PROT:Q13148	TARDBP	A	315	T	A315T	Pathogenic	1	1	49	2
MUT:TARDBP:Ala321Val	PROT:Q13148	TARDBP	A	321	V	A321V	Likely pathogenic	1	1	49	4
MUT:TARDBP:Ala382Thr	PROT:Q13148	TARDBP	A	382	T	A382T	Pathogenic/Likely pathogenic	1	3	49	3
MUT:TARDBP:Asn352Ser	PROT:Q13148	TARDBP	N	352	S	N352S	Pathogenic/Likely pathogenic	1	2	49	2
MUT:TARDBP:Asn378Ser	PROT:Q13148	TARDBP	N	378	S	N378S	Likely pathogenic	1	1	49	1
MUT:TARDBP:Asp169Gly	PROT:Q13148	TARDBP	D	169	G	D169G	Pathogenic	1	1	49	7
MUT:TARDBP:Cys50Ser	PROT:Q13148	TARDBP	C	50	S	C50S	Likely benign	0	1	49	34
MUT:TARDBP:Gln331Lys	PROT:Q13148	TARDBP	Q	331	K	Q331K	Pathogenic	1	1	49	1
MUT:TARDBP:Gln343Arg	PROT:Q13148	TARDBP	Q	343	R	Q343R	Pathogenic	1	1	49	1
MUT:TARDBP:Gln354Glu	PROT:Q13148	TARDBP	Q	354	E	Q354E	Likely pathogenic	1	1	49	4
MUT:TARDBP:Gly287Ser	PROT:Q13148	TARDBP	G	287	S	G287S	Pathogenic/Likely pathogenic	1	3	49	5
MUT:TARDBP:Gly295Ser	PROT:Q13148	TARDBP	G	295	S	G295S	Pathogenic	1	1	49	3
MUT:TARDBP:Gly298Ser	PROT:Q13148	TARDBP	G	298	S	G298S	Pathogenic/Likely pathogenic	1	2	49	6
MUT:TARDBP:Gly348Cys	PROT:Q13148	TARDBP	G	348	C	G348C	Pathogenic/Likely pathogenic	1	1	49	1
MUT:TARDBP:Gly348Val	PROT:Q13148	TARDBP	G	348	V	G348V	Pathogenic	1	1	49	1
MUT:TARDBP:Ile383Val	PROT:Q13148	TARDBP	I	383	V	I383V	Pathogenic/Likely pathogenic	1	2	49	4
MUT:TARDBP:Lys263Glu	PROT:Q13148	TARDBP	K	263	E	K263E	Pathogenic	1	1	49	0
MUT:TARDBP:Met311Val	PROT:Q13148	TARDBP	M	311	V	M311V	Likely pathogenic	1	2	49	6
MUT:TARDBP:Met337Val	PROT:Q13148	TARDBP	M	337	V	M337V	Pathogenic/Likely pathogenic	1	1	49	4
MUT:TARDBP:Ser377Pro	PROT:Q13148	TARDBP	S	377	P	S377P	Likely pathogenic	1	1	49	0
MUT:TARS1:Ala66Val	PROT:P26639	TARS1	A	66	V	A66V	Likely benign	0	1	51	1
MUT:TARS1:Ala95Glu	PROT:P26639	TARS1	A	95	E	A95E	Benign	0	1	51	20
MUT:TARS1:Glu77Asp	PROT:P26639	TARS1	E	77	D	E77D	Benign	0	1	51	2
MUT:TARS1:Gly21Asp	PROT:P26639	TARS1	G	21	D	G21D	Benign/Likely benign	0	2	51	3
MUT:TARS1:Gly580Asp	PROT:P26639	TARS1	G	580	D	G580D	Benign	0	1	51	46
MUT:TARS1:Gly580Cys	PROT:P26639	TARS1	G	580	C	G580C	Benign	0	1	51	46
MUT:TARS1:Ile705Met	PROT:P26639	TARS1	I	705	M	I705M	Benign	0	1	51	3
MUT:TARS1:Leu227Pro	PROT:P26639	TARS1	L	227	P	L227P	Pathogenic	1	1	51	4
MUT:TARS1:Lys276Glu	PROT:P26639	TARS1	K	276	E	K276E	Pathogenic	1	1	51	3
MUT:TARS1:Val118Ile	PROT:P26639	TARS1	V	118	I	V118I	Benign	0	1	51	43
MUT:TARS2:Arg327Gln	PROT:Q9BW92	TARS2	R	327	Q	R327Q	Likely pathogenic	1	1	10	78
MUT:TARS2:Arg346His	PROT:Q9BW92	TARS2	R	346	H	R346H	Likely pathogenic	1	1	10	59
MUT:TARS2:Arg419Trp	PROT:Q9BW92	TARS2	R	419	W	R419W	Likely pathogenic	1	1	10	14
MUT:TARS2:Arg684Gln	PROT:Q9BW92	TARS2	R	684	Q	R684Q	Pathogenic/Likely pathogenic	1	1	10	41
MUT:TARS2:Asp560His	PROT:Q9BW92	TARS2	D	560	H	D560H	Likely pathogenic	1	1	10	12
MUT:TARS2:Gln473Arg	PROT:Q9BW92	TARS2	Q	473	R	Q473R	Likely benign	0	1	10	47
MUT:TARS2:Glu425Gly	PROT:Q9BW92	TARS2	E	425	G	E425G	Likely pathogenic	1	1	10	20
MUT:TARS2:Glu440Lys	PROT:Q9BW92	TARS2	E	440	K	E440K	Likely pathogenic	1	1	10	35
MUT:TARS2:Glu715Lys	PROT:Q9BW92	TARS2	E	715	K	E715K	Likely pathogenic	1	1	10	72
MUT:TARS2:His367Tyr	PROT:Q9BW92	TARS2	H	367	Y	H367Y	Likely pathogenic	1	1	10	38
MUT:TARS2:Pro155Leu	PROT:Q9BW92	TARS2	P	155	L	P155L	Likely pathogenic	1	1	10	7
MUT:TARS2:Pro282Leu	PROT:Q9BW92	TARS2	P	282	L	P282L	Likely pathogenic	1	1	10	72
MUT:TARS2:Pro387Leu	PROT:Q9BW92	TARS2	P	387	L	P387L	Likely benign	0	1	10	18
MUT:TARS2:Thr157Arg	PROT:Q9BW92	TARS2	T	157	R	T157R	Likely pathogenic	1	1	10	5
MUT:TARS2:Thr359Met	PROT:Q9BW92	TARS2	T	359	M	T359M	Benign	0	1	10	46
MUT:TAS2R16:Arg222His	PROT:Q9NYV7	TAS2R16	R	222	H	R222H	Benign	0	1	1	171
MUT:TASP1:Asn360Asp	PROT:Q9H6P5	TASP1	N	360	D	N360D	Likely benign	0	1	1	352
MUT:TASP1:Gln215His	PROT:Q9H6P5	TASP1	Q	215	H	Q215H	Likely benign	0	1	1	207
MUT:TASP1:Ser21Leu	PROT:Q9H6P5	TASP1	S	21	L	S21L	Likely benign	0	1	1	13
MUT:TASP1:Thr234Met	PROT:Q9H6P5	TASP1	T	234	M	T234M	Likely pathogenic	1	1	1	226
MUT:TAT:Ala147Val	PROT:P17735	TAT	A	147	V	A147V	Likely pathogenic	1	1	2	114
MUT:TAT:Arg119Trp	PROT:P17735	TAT	R	119	W	R119W	Pathogenic/Likely pathogenic	1	1	2	86
MUT:TAT:Arg417Gln	PROT:P17735	TAT	R	417	Q	R417Q	Pathogenic/Likely pathogenic	1	1	2	96
MUT:TAT:Arg433Gln	PROT:P17735	TAT	R	433	Q	R433Q	Likely pathogenic	1	1	2	112
MUT:TAT:Arg433Trp	PROT:P17735	TAT	R	433	W	R433W	Pathogenic	1	1	2	112
MUT:TAT:Cys151Tyr	PROT:P17735	TAT	C	151	Y	C151Y	Likely pathogenic	1	1	2	118
MUT:TAT:Gly114Ala	PROT:P17735	TAT	G	114	A	G114A	Likely pathogenic	1	1	2	81
MUT:TAT:Gly25Val	PROT:P17735	TAT	G	25	V	G25V	Likely benign	0	1	2	8
MUT:TAT:Met1Val	PROT:P17735	TAT	M	1	V	M1V	Likely pathogenic	1	1	2	32
MUT:TAT:Pro15Ser	PROT:P17735	TAT	P	15	S	P15S	Benign	0	1	2	18
MUT:TAT:Pro406Leu	PROT:P17735	TAT	P	406	L	P406L	Pathogenic	1	1	2	85
MUT:TAT:Pro45Ser	PROT:P17735	TAT	P	45	S	P45S	Benign	0	1	2	12
MUT:TAT:Tyr186His	PROT:P17735	TAT	Y	186	H	Y186H	Likely pathogenic	1	1	2	135
MUT:TAT:Val310Ala	PROT:P17735	TAT	V	310	A	V310A	Likely benign	0	2	2	11
MUT:TBC1D20:Asp183Asn	PROT:Q96BZ9	TBC1D20	D	183	N	D183N	Likely benign	0	1	2	96
MUT:TBC1D20:Thr320Met	PROT:Q96BZ9	TBC1D20	T	320	M	T320M	Likely benign	0	1	2	41
MUT:TBC1D2B:Ala24Gly	PROT:Q9UPU7	TBC1D2B	A	24	G	A24G	Likely benign	0	1	20	113
MUT:TBC1D2B:Ala8Gly	PROT:Q9UPU7	TBC1D2B	A	8	G	A8G	Benign	0	1	20	129
MUT:TBC1D2B:Arg124His	PROT:Q9UPU7	TBC1D2B	R	124	H	R124H	Likely benign	0	1	20	13
MUT:TBC1D2B:Met650Val	PROT:Q9UPU7	TBC1D2B	M	650	V	M650V	Likely benign	0	1	20	29
MUT:TBC1D2B:Pro100Leu	PROT:Q9UPU7	TBC1D2B	P	100	L	P100L	Likely benign	0	1	20	37
MUT:TBC1D2B:Pro466Ser	PROT:Q9UPU7	TBC1D2B	P	466	S	P466S	Likely benign	0	1	20	7
MUT:TBC1D2B:Thr933Ile	PROT:Q9UPU7	TBC1D2B	T	933	I	T933I	Likely benign	0	1	20	47
MUT:TBC1D2B:Val479Phe	PROT:Q9UPU7	TBC1D2B	V	479	F	V479F	Likely benign	0	1	20	6
MUT:TBC1D4:Ala271Gly	PROT:O60343	TBC1D4	A	271	G	A271G	Likely benign	0	1	38	9
MUT:TBC1D4:Ile1131Val	PROT:O60343	TBC1D4	I	1131	V	I1131V	Likely benign	0	1	38	76
MUT:TBC1D4:Pro619Leu	PROT:O60343	TBC1D4	P	619	L	P619L	Likely benign	0	1	38	10
MUT:TBC1D4:Ser716Asn	PROT:O60343	TBC1D4	S	716	N	S716N	Benign	0	1	38	9
MUT:TBC1D4:Val1119Ala	PROT:O60343	TBC1D4	V	1119	A	V1119A	Benign	0	1	38	88
MUT:TBC1D7:Ala136Thr	PROT:Q9P0N9	TBC1D7	A	136	T	A136T	Benign/Likely benign	0	1	8	12
MUT:TBC1D8B:Arg64Cys	PROT:Q0IIM8	TBC1D8B	R	64	C	R64C	Pathogenic	1	1	14	54
MUT:TBC1D8B:Gln246His	PROT:Q0IIM8	TBC1D8B	Q	246	H	Q246H	Likely pathogenic	1	1	14	12
MUT:TBC1D8B:Glu1028Gly	PROT:Q0IIM8	TBC1D8B	E	1028	G	E1028G	Benign	0	1	14	7
MUT:TBC1D8B:Glu834Lys	PROT:Q0IIM8	TBC1D8B	E	834	K	E834K	Likely benign	0	1	14	59
MUT:TBC1D8B:Leu974Phe	PROT:Q0IIM8	TBC1D8B	L	974	F	L974F	Benign/Likely benign	0	2	14	61
MUT:TBC1D8B:Phe291Ser	PROT:Q0IIM8	TBC1D8B	F	291	S	F291S	Likely pathogenic	1	1	14	16
MUT:TBC1D8B:Thr780Ser	PROT:Q0IIM8	TBC1D8B	T	780	S	T780S	Pathogenic	1	1	14	5
MUT:TBC1D8B:Val417Gly	PROT:Q0IIM8	TBC1D8B	V	417	G	V417G	Benign	0	1	14	34
MUT:TBCE:Arg223Trp	PROT:Q15813	TBCE	R	223	W	R223W	Likely benign	0	1	18	31
MUT:TBCE:Arg380Thr	PROT:Q15813	TBCE	R	380	T	R380T	Likely benign	0	1	18	54
MUT:TBCE:Glu409Gly	PROT:Q15813	TBCE	E	409	G	E409G	Benign	0	1	18	25
MUT:TBCE:Gly34Ala	PROT:Q15813	TBCE	G	34	A	G34A	Likely pathogenic	1	1	18	26
MUT:TBCE:Gly94Glu	PROT:Q15813	TBCE	G	94	E	G94E	Likely benign	0	1	18	8
MUT:TBCE:Ile155Asn	PROT:Q15813	TBCE	I	155	N	I155N	Pathogenic/Likely pathogenic	1	2	18	10
MUT:TBCE:Met305Ile	PROT:Q15813	TBCE	M	305	I	M305I	Likely benign	0	1	18	113
MUT:TBCE:Pro466Leu	PROT:Q15813	TBCE	P	466	L	P466L	Likely benign	0	4	18	7
MUT:TBCE:Pro64Leu	PROT:Q15813	TBCE	P	64	L	P64L	Likely benign	0	1	18	4
MUT:TBCE:Pro72Ser	PROT:Q15813	TBCE	P	72	S	P72S	Benign/Likely benign	0	2	18	12
MUT:TBCE:Ser333Thr	PROT:Q15813	TBCE	S	333	T	S333T	Benign/Likely benign	0	1	18	101
MUT:TBCE:Thr105Ile	PROT:Q15813	TBCE	T	105	I	T105I	Likely benign	0	1	18	4
MUT:TBCE:Val111Gly	PROT:Q15813	TBCE	V	111	G	V111G	Likely pathogenic	1	1	18	2
MUT:TBCE:Val205Ala	PROT:Q15813	TBCE	V	205	A	V205A	Benign	0	1	18	13
MUT:TBCEL:Ile146Leu	PROT:Q5QJ74	TBCEL	I	146	L	I146L	Likely benign	0	1	5	16
MUT:TBK1:Arg271Gln	PROT:Q9UHD2	TBK1	R	271	Q	R271Q	Likely benign	0	2	40	7
MUT:TBK1:Arg357Gln	PROT:Q9UHD2	TBK1	R	357	Q	R357Q	Pathogenic	1	1	40	3
MUT:TBK1:Arg358His	PROT:Q9UHD2	TBK1	R	358	H	R358H	Likely benign	0	1	40	4
MUT:TBK1:Arg384Gln	PROT:Q9UHD2	TBK1	R	384	Q	R384Q	Likely benign	0	1	40	10
MUT:TBK1:Arg724Cys	PROT:Q9UHD2	TBK1	R	724	C	R724C	Likely benign	0	1	40	8
MUT:TBK1:Asn388Ser	PROT:Q9UHD2	TBK1	N	388	S	N388S	Likely benign	0	1	40	6
MUT:TBK1:Asp118Asn	PROT:Q9UHD2	TBK1	D	118	N	D118N	Likely pathogenic	1	1	40	19
MUT:TBK1:Asp203Gly	PROT:Q9UHD2	TBK1	D	203	G	D203G	Likely pathogenic	1	1	40	24
MUT:TBK1:Gln553His	PROT:Q9UHD2	TBK1	Q	553	H	Q553H	Likely benign	0	1	40	8
MUT:TBK1:Gln565Pro	PROT:Q9UHD2	TBK1	Q	565	P	Q565P	Likely pathogenic	1	1	40	12
MUT:TBK1:Glu147Lys	PROT:Q9UHD2	TBK1	E	147	K	E147K	Benign	0	2	40	4
MUT:TBK1:Glu696Lys	PROT:Q9UHD2	TBK1	E	696	K	E696K	Pathogenic	1	1	40	4
MUT:TBK1:Leu306Ile	PROT:Q9UHD2	TBK1	L	306	I	L306I	Benign/Likely benign	0	2	40	15
MUT:TBK1:Leu508Ile	PROT:Q9UHD2	TBK1	L	508	I	L508I	Benign/Likely benign	0	2	40	1
MUT:TBK1:Leu613Phe	PROT:Q9UHD2	TBK1	L	613	F	L613F	Benign/Likely benign	0	3	40	17
MUT:TBK1:Lys622Arg	PROT:Q9UHD2	TBK1	K	622	R	K622R	Likely benign	0	2	40	24
MUT:TBK1:Thr599Met	PROT:Q9UHD2	TBK1	T	599	M	T599M	Benign	0	1	40	3
MUT:TBK1:Tyr212Asp	PROT:Q9UHD2	TBK1	Y	212	D	Y212D	Pathogenic	1	1	40	19
MUT:TBK1:Val464Ala	PROT:Q9UHD2	TBK1	V	464	A	V464A	Benign/Likely benign	0	2	40	29
MUT:TBRG1:Ala210Thr	PROT:Q3YBR2	TBRG1	A	210	T	A210T	Likely pathogenic	1	1	6	190
MUT:TBX18:Ala445Thr	PROT:O95935	TBX18	A	445	T	A445T	Likely benign	0	1	6	80
MUT:TBX18:Ala73Thr	PROT:O95935	TBX18	A	73	T	A73T	Likely benign	0	1	6	44
MUT:TBX18:Asp91Ala	PROT:O95935	TBX18	D	91	A	D91A	Likely benign	0	1	6	26
MUT:TBX18:Gln601Arg	PROT:O95935	TBX18	Q	601	R	Q601R	Likely pathogenic	1	1	6	58
MUT:TBX18:Gly290Arg	PROT:O95935	TBX18	G	290	R	G290R	Benign	0	1	6	159
MUT:TBX18:Gly48Arg	PROT:O95935	TBX18	G	48	R	G48R	Benign	0	1	6	69
MUT:TBX18:Gly60Ser	PROT:O95935	TBX18	G	60	S	G60S	Likely benign	0	1	6	57
MUT:TBX18:Lys163Glu	PROT:O95935	TBX18	K	163	E	K163E	Pathogenic	1	1	6	32
MUT:TBX18:Val272Ile	PROT:O95935	TBX18	V	272	I	V272I	Likely benign	0	1	6	141
MUT:TBX20:Asp176Asn	PROT:Q9UMR3	TBX20	D	176	N	D176N	Likely pathogenic	1	1	3	58
MUT:TBX20:Ile121Met	PROT:Q9UMR3	TBX20	I	121	M	I121M	Pathogenic	1	1	3	3
MUT:TBX22:Ala390Asp	PROT:Q9Y458	TBX22	A	390	D	A390D	Likely benign	0	1	2	122
MUT:TBX22:Arg223Gln	PROT:Q9Y458	TBX22	R	223	Q	R223Q	Likely pathogenic	1	1	2	45
MUT:TBX22:Asn264Tyr	PROT:Q9Y458	TBX22	N	264	Y	N264Y	Pathogenic	1	1	2	4
MUT:TBX22:Asn441Ser	PROT:Q9Y458	TBX22	N	441	S	N441S	Likely benign	0	1	2	173
MUT:TBX22:Glu187Lys	PROT:Q9Y458	TBX22	E	187	K	E187K	Benign	0	2	2	63
MUT:TBX22:Gly118Cys	PROT:Q9Y458	TBX22	G	118	C	G118C	Pathogenic	1	1	2	6
MUT:TBX22:Leu214Pro	PROT:Q9Y458	TBX22	L	214	P	L214P	Pathogenic	1	1	2	54
MUT:TBX22:Thr260Met	PROT:Q9Y458	TBX22	T	260	M	T260M	Pathogenic	1	1	2	8
MUT:TBX2:Arg20Gln	PROT:Q13207	TBX2	R	20	Q	R20Q	Pathogenic/Likely pathogenic	1	2	7	263
MUT:TBX2:Arg331Trp	PROT:Q13207	TBX2	R	331	W	R331W	Likely benign	0	1	7	29
MUT:TBX2:Gly571Ala	PROT:Q13207	TBX2	G	571	A	G571A	Benign	0	1	7	82
MUT:TBX2:His76Gln	PROT:Q13207	TBX2	H	76	Q	H76Q	Likely benign	0	1	7	207
MUT:TBX2:Phe167Leu	PROT:Q13207	TBX2	F	167	L	F167L	Likely pathogenic	1	1	7	116
MUT:TBX2:Phe37Cys	PROT:Q13207	TBX2	F	37	C	F37C	Likely pathogenic	1	1	7	246
MUT:TBX2:Pro329His	PROT:Q13207	TBX2	P	329	H	P329H	Likely benign	0	1	7	31
MUT:TBX2:Pro364Ser	PROT:Q13207	TBX2	P	364	S	P364S	Likely pathogenic	1	1	7	4
MUT:TBX2:Pro677Leu	PROT:Q13207	TBX2	P	677	L	P677L	Benign	0	1	7	20
MUT:TBXA2R:Ala125Thr	PROT:P21731	TBXA2R	A	125	T	A125T	Likely benign	0	1	2	204
MUT:TBXA2R:Arg60Leu	PROT:P21731	TBXA2R	R	60	L	R60L	Benign	0	2	2	269
MUT:TBXA2R:Cys183Tyr	PROT:P21731	TBXA2R	C	183	Y	C183Y	Likely pathogenic	1	1	2	146
MUT:TBXA2R:Val217Ile	PROT:P21731	TBXA2R	V	217	I	V217I	Benign/Likely benign	0	1	2	112
MUT:TBXT:Ala339Val	PROT:O15178	TBXT	A	339	V	A339V	Likely benign	0	1	2	92
MUT:TBXT:Asn370Ser	PROT:O15178	TBXT	N	370	S	N370S	Benign	0	1	2	61
MUT:TBXT:Gly177Asp	PROT:O15178	TBXT	G	177	D	G177D	Benign	0	1	2	112
MUT:TBXT:His171Arg	PROT:O15178	TBXT	H	171	R	H171R	Pathogenic	1	1	2	106
MUT:TCEAL1:Cys90Tyr	PROT:Q15170	TCEAL1	C	90	Y	C90Y	Likely pathogenic	1	1	2	53
MUT:TCEAL1:Glu46Gly	PROT:Q15170	TCEAL1	E	46	G	E46G	Likely benign	0	1	2	9
MUT:TCERG1L:Arg574Gln	PROT:Q5VWI1	TCERG1L	R	574	Q	R574Q	Likely benign	0	2	3	100
MUT:TCF12:Ala174Val	PROT:Q99081	TCF12	A	174	V	A174V	Likely benign	0	1	45	7
MUT:TCF12:Arg611His	PROT:Q99081	TCF12	R	611	H	R611H	Likely pathogenic	1	1	45	1
MUT:TCF12:Asn106Asp	PROT:Q99081	TCF12	N	106	D	N106D	Likely benign	0	1	45	4
MUT:TCF12:Asp236Glu	PROT:Q99081	TCF12	D	236	E	D236E	Likely benign	0	1	45	47
MUT:TCF12:Asp320Glu	PROT:Q99081	TCF12	D	320	E	D320E	Likely benign	0	1	45	5
MUT:TCF12:Gln638Glu	PROT:Q99081	TCF12	Q	638	E	Q638E	Pathogenic	1	1	45	4
MUT:TCF12:Glu113Asp	PROT:Q99081	TCF12	E	113	D	E113D	Likely benign	0	1	45	2
MUT:TCF12:Gly153Trp	PROT:Q99081	TCF12	G	153	W	G153W	Pathogenic	1	1	45	2
MUT:TCF12:Gly300Ser	PROT:Q99081	TCF12	G	300	S	G300S	Benign	0	7	45	4
MUT:TCF12:Met412Val	PROT:Q99081	TCF12	M	412	V	M412V	Likely benign	0	1	45	17
MUT:TCF12:Pro188Ser	PROT:Q99081	TCF12	P	188	S	P188S	Likely benign	0	1	45	3
MUT:TCF12:Ser271Leu	PROT:Q99081	TCF12	S	271	L	S271L	Benign	0	1	45	12
MUT:TCF12:Thr687Ala	PROT:Q99081	TCF12	T	687	A	T687A	Likely benign	0	1	45	34
MUT:TCHHL1:Asn167Tyr	PROT:Q5QJ38	TCHHL1	N	167	Y	N167Y	Benign	0	1	5	25
MUT:TCTN3:Gly314Arg	PROT:Q6NUS6	TCTN3	G	314	R	G314R	Pathogenic	1	1	1	122
MUT:TCTN3:Met1Arg	PROT:Q6NUS6	TCTN3	M	1	R	M1R	Pathogenic/Likely pathogenic	1	2	1	435
MUT:TCTN3:Met1Ile	PROT:Q6NUS6	TCTN3	M	1	I	M1I	Pathogenic/Likely pathogenic	1	3	1	435
MUT:TCTN3:Met1Val	PROT:Q6NUS6	TCTN3	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	1	435
MUT:TCTN3:Ser206Pro	PROT:Q6NUS6	TCTN3	S	206	P	S206P	Likely benign	0	1	1	230
MUT:TDP1:Ala134Thr	PROT:Q9NUW8	TDP1	A	134	T	A134T	Benign	0	1	22	5
MUT:TDP1:Ala389Thr	PROT:Q9NUW8	TDP1	A	389	T	A389T	Benign/Likely benign	0	2	22	28
MUT:TDP1:Arg304Gln	PROT:Q9NUW8	TDP1	R	304	Q	R304Q	Benign/Likely benign	0	1	22	7
MUT:TDP1:His493Arg	PROT:Q9NUW8	TDP1	H	493	R	H493R	Pathogenic	1	1	22	4
MUT:TDP1:Pro101Leu	PROT:Q9NUW8	TDP1	P	101	L	P101L	Benign/Likely benign	0	1	22	13
MUT:TDP1:Thr569Ala	PROT:Q9NUW8	TDP1	T	569	A	T569A	Benign/Likely benign	0	1	22	6
MUT:TDP2:Arg332Gln	PROT:O95551	TDP2	R	332	Q	R332Q	Likely benign	0	1	11	9
MUT:TDP2:Asn59Asp	PROT:O95551	TDP2	N	59	D	N59D	Likely benign	0	1	11	1
MUT:TDP2:Asn89Ser	PROT:O95551	TDP2	N	89	S	N89S	Benign/Likely benign	0	1	11	1
MUT:TDP2:Cys6Phe	PROT:O95551	TDP2	C	6	F	C6F	Likely benign	0	1	11	5
MUT:TDP2:Met243Ile	PROT:O95551	TDP2	M	243	I	M243I	Likely benign	0	1	11	1
MUT:TEAD1:Tyr421His	PROT:P28347	TEAD1	Y	421	H	Y421H	Pathogenic	1	1	12	90
MUT:TECPR1:Arg967Cys	PROT:Q7Z6L1	TECPR1	R	967	C	R967C	Likely pathogenic	1	1	8	18
MUT:TECPR1:Asp873Asn	PROT:Q7Z6L1	TECPR1	D	873	N	D873N	Likely pathogenic	1	1	8	65
MUT:TECRL:Arg179His	PROT:Q5HYJ1	TECRL	R	179	H	R179H	Benign/Likely benign	0	1	1	142
MUT:TECRL:Arg196Gln	PROT:Q5HYJ1	TECRL	R	196	Q	R196Q	Likely pathogenic	1	1	1	159
MUT:TEKT1:Asp273Gly	PROT:Q969V4	TEKT1	D	273	G	D273G	Likely benign	0	1	1	155
MUT:TEKT1:Lys311Asn	PROT:Q969V4	TEKT1	K	311	N	K311N	Likely benign	0	1	1	193
MUT:TEKT3:Arg183Gln	PROT:Q9BXF9	TEKT3	R	183	Q	R183Q	Pathogenic	1	1	4	94
MUT:TEKT3:Gln251Pro	PROT:Q9BXF9	TEKT3	Q	251	P	Q251P	Pathogenic	1	1	4	26
MUT:TELO2:Ala139Val	PROT:Q9Y4R8	TELO2	A	139	V	A139V	Likely benign	0	1	12	20
MUT:TELO2:Ala240Val	PROT:Q9Y4R8	TELO2	A	240	V	A240V	Likely benign	0	1	12	81
MUT:TELO2:Ala483Glu	PROT:Q9Y4R8	TELO2	A	483	E	A483E	Likely benign	0	1	12	27
MUT:TELO2:Ala483Val	PROT:Q9Y4R8	TELO2	A	483	V	A483V	Likely benign	0	1	12	27
MUT:TELO2:Ala511Val	PROT:Q9Y4R8	TELO2	A	511	V	A511V	Benign	0	1	12	32
MUT:TELO2:Arg122Gln	PROT:Q9Y4R8	TELO2	R	122	Q	R122Q	Likely benign	0	1	12	37
MUT:TELO2:Arg404Cys	PROT:Q9Y4R8	TELO2	R	404	C	R404C	Likely benign	0	1	12	12
MUT:TELO2:Arg607Trp	PROT:Q9Y4R8	TELO2	R	607	W	R607W	Likely benign	0	1	12	25
MUT:TELO2:Arg609Cys	PROT:Q9Y4R8	TELO2	R	609	C	R609C	Pathogenic	1	1	12	23
MUT:TELO2:Arg609His	PROT:Q9Y4R8	TELO2	R	609	H	R609H	Pathogenic/Likely pathogenic	1	1	12	23
MUT:TELO2:Cys367Phe	PROT:Q9Y4R8	TELO2	C	367	F	C367F	Pathogenic/Likely pathogenic	1	2	12	5
MUT:TELO2:Cys736Tyr	PROT:Q9Y4R8	TELO2	C	736	Y	C736Y	Likely benign	0	1	12	63
MUT:TELO2:Gln146Arg	PROT:Q9Y4R8	TELO2	Q	146	R	Q146R	Benign	0	1	12	13
MUT:TELO2:Gln674Arg	PROT:Q9Y4R8	TELO2	Q	674	R	Q674R	Benign	0	1	12	32
MUT:TELO2:Gln768Arg	PROT:Q9Y4R8	TELO2	Q	768	R	Q768R	Likely benign	0	1	12	31
MUT:TELO2:Leu276Pro	PROT:Q9Y4R8	TELO2	L	276	P	L276P	Benign/Likely benign	0	2	12	86
MUT:TELO2:Leu457Val	PROT:Q9Y4R8	TELO2	L	457	V	L457V	Likely benign	0	1	12	1
MUT:TELO2:Pro278Ala	PROT:Q9Y4R8	TELO2	P	278	A	P278A	Likely benign	0	1	12	84
MUT:TELO2:Ser639Gly	PROT:Q9Y4R8	TELO2	S	639	G	S639G	Likely benign	0	1	12	2
MUT:TELO2:Val272Ala	PROT:Q9Y4R8	TELO2	V	272	A	V272A	Benign/Likely benign	0	1	12	90
MUT:TELO2:Val519Leu	PROT:Q9Y4R8	TELO2	V	519	L	V519L	Likely benign	0	1	12	24
MUT:TENM1:Ala1310Thr	PROT:Q9UKZ4	TENM1	A	1310	T	A1310T	Likely benign	0	1	8	173
MUT:TENM1:Ala174Thr	PROT:Q9UKZ4	TENM1	A	174	T	A174T	Likely benign	0	1	8	29
MUT:TENM1:Arg2468Gln	PROT:Q9UKZ4	TENM1	R	2468	Q	R2468Q	Likely benign	0	1	8	112
MUT:TENM1:Asn2719Ser	PROT:Q9UKZ4	TENM1	N	2719	S	N2719S	Likely benign	0	1	8	139
MUT:TENM1:Gly2517Arg	PROT:Q9UKZ4	TENM1	G	2517	R	G2517R	Likely benign	0	1	8	63
MUT:TENM1:His2192Leu	PROT:Q9UKZ4	TENM1	H	2192	L	H2192L	Likely benign	0	1	8	174
MUT:TENM1:Ile1219Val	PROT:Q9UKZ4	TENM1	I	1219	V	I1219V	Benign	0	1	8	264
MUT:TENM1:Leu1625Arg	PROT:Q9UKZ4	TENM1	L	1625	R	L1625R	Likely pathogenic	1	1	8	72
MUT:TENM1:Leu1767Phe	PROT:Q9UKZ4	TENM1	L	1767	F	L1767F	Likely benign	0	1	8	69
MUT:TENM1:Leu768Phe	PROT:Q9UKZ4	TENM1	L	768	F	L768F	Likely benign	0	1	8	623
MUT:TENM1:Lys641Glu	PROT:Q9UKZ4	TENM1	K	641	E	K641E	Benign	0	1	8	496
MUT:TENM1:Pro1018Ser	PROT:Q9UKZ4	TENM1	P	1018	S	P1018S	Benign	0	1	8	465
MUT:TENM1:Pro1166Arg	PROT:Q9UKZ4	TENM1	P	1166	R	P1166R	Likely benign	0	1	8	317
MUT:TENM1:Pro1242Ser	PROT:Q9UKZ4	TENM1	P	1242	S	P1242S	Benign	0	1	8	241
MUT:TENM1:Pro235Ser	PROT:Q9UKZ4	TENM1	P	235	S	P235S	Likely benign	0	1	8	90
MUT:TENM1:Tyr40His	PROT:Q9UKZ4	TENM1	Y	40	H	Y40H	Likely benign	0	1	8	69
MUT:TENM1:Val1216Ile	PROT:Q9UKZ4	TENM1	V	1216	I	V1216I	Likely benign	0	1	8	267
MUT:TET1:Ala985Ser	PROT:Q8NFU7	TET1	A	985	S	A985S	Benign	0	1	7	114
MUT:TET1:Arg1333Lys	PROT:Q8NFU7	TET1	R	1333	K	R1333K	Likely benign	0	1	7	178
MUT:TET1:Gln683Glu	PROT:Q8NFU7	TET1	Q	683	E	Q683E	Likely benign	0	1	7	188
MUT:TET1:Leu166Phe	PROT:Q8NFU7	TET1	L	166	F	L166F	Benign	0	1	7	50
MUT:TET1:Thr1421Ala	PROT:Q8NFU7	TET1	T	1421	A	T1421A	Benign	0	1	7	168
MUT:TET1:Thr87Ser	PROT:Q8NFU7	TET1	T	87	S	T87S	Likely benign	0	4	7	29
MUT:TET1:Val1808Met	PROT:Q8NFU7	TET1	V	1808	M	V1808M	Likely benign	0	1	7	43
MUT:TET2:Asn767Asp	PROT:Q6N021	TET2	N	767	D	N767D	Likely benign	0	1	29	50
MUT:TET2:Gly355Asp	PROT:Q6N021	TET2	G	355	D	G355D	Benign	0	1	29	21
MUT:TET2:Met1701Ile	PROT:Q6N021	TET2	M	1701	I	M1701I	Benign/Likely benign	0	1	29	140
MUT:TET2:Val1718Leu	PROT:Q6N021	TET2	V	1718	L	V1718L	Benign/Likely benign	0	1	29	157
MUT:TET3:Ala1068Gly	PROT:O43151	TET3	A	1068	G	A1068G	Likely benign	0	1	18	49
MUT:TET3:Ala1076Thr	PROT:O43151	TET3	A	1076	T	A1076T	Pathogenic/Likely pathogenic	1	2	18	57
MUT:TET3:Ala919Thr	PROT:O43151	TET3	A	919	T	A919T	Likely benign	0	1	18	75
MUT:TET3:Arg301Trp	PROT:O43151	TET3	R	301	W	R301W	Likely benign	0	1	18	10
MUT:TET3:Arg712Gln	PROT:O43151	TET3	R	712	Q	R712Q	Benign/Likely benign	0	1	18	35
MUT:TET3:Cys958Tyr	PROT:O43151	TET3	C	958	Y	C958Y	Likely pathogenic	1	1	18	36
MUT:TET3:Glu788Lys	PROT:O43151	TET3	E	788	K	E788K	Likely pathogenic	1	1	18	4
MUT:TET3:Gly1495Ser	PROT:O43151	TET3	G	1495	S	G1495S	Likely benign	0	1	18	98
MUT:TET3:His1075Tyr	PROT:O43151	TET3	H	1075	Y	H1075Y	Likely pathogenic	1	1	18	56
MUT:TET3:Leu1024Pro	PROT:O43151	TET3	L	1024	P	L1024P	Likely pathogenic	1	1	18	5
MUT:TET3:Leu1115Pro	PROT:O43151	TET3	L	1115	P	L1115P	Likely pathogenic	1	1	18	96
MUT:TET3:Leu1115Val	PROT:O43151	TET3	L	1115	V	L1115V	Likely pathogenic	1	1	18	96
MUT:TET3:Lys994Gln	PROT:O43151	TET3	K	994	Q	K994Q	Likely pathogenic	1	1	18	0
MUT:TET3:Met1254Val	PROT:O43151	TET3	M	1254	V	M1254V	Likely benign	0	1	18	143
MUT:TET3:Phe1072Cys	PROT:O43151	TET3	F	1072	C	F1072C	Pathogenic/Likely pathogenic	1	2	18	53
MUT:TET3:Pro429Ser	PROT:O43151	TET3	P	429	S	P429S	Benign	0	1	18	75
MUT:TET3:Pro645Leu	PROT:O43151	TET3	P	645	L	P645L	Benign/Likely benign	0	1	18	102
MUT:TET3:Pro728Ala	PROT:O43151	TET3	P	728	A	P728A	Likely benign	0	1	18	19
MUT:TET3:Ser1504Pro	PROT:O43151	TET3	S	1504	P	S1504P	Likely benign	0	1	18	93
MUT:TET3:Thr486Ala	PROT:O43151	TET3	T	486	A	T486A	Likely benign	0	1	18	18
MUT:TET3:Val567Ala	PROT:O43151	TET3	V	567	A	V567A	Benign/Likely benign	0	1	18	32
MUT:TET3:Val590Met	PROT:O43151	TET3	V	590	M	V590M	Benign	0	1	18	55
MUT:TET3:Val908Leu	PROT:O43151	TET3	V	908	L	V908L	Pathogenic/Likely pathogenic	1	3	18	86
MUT:TEX15:Ala2514Thr	PROT:Q9BXT5	TEX15	A	2514	T	A2514T	Likely benign	0	1	5	34
MUT:TEX15:Arg1320Gln	PROT:Q9BXT5	TEX15	R	1320	Q	R1320Q	Benign	0	1	5	314
MUT:TEX15:Asn1162Ser	PROT:Q9BXT5	TEX15	N	1162	S	N1162S	Benign	0	1	5	156
MUT:TEX15:Asn205Thr	PROT:Q9BXT5	TEX15	N	205	T	N205T	Likely benign	0	1	5	701
MUT:TEX15:Asn2362Ser	PROT:Q9BXT5	TEX15	N	2362	S	N2362S	Benign	0	1	5	186
MUT:TEX15:Asn2415Ser	PROT:Q9BXT5	TEX15	N	2415	S	N2415S	Likely benign	0	1	5	133
MUT:TEX15:Asn623Ser	PROT:Q9BXT5	TEX15	N	623	S	N623S	Likely benign	0	1	5	283
MUT:TEX15:Asp1648Glu	PROT:Q9BXT5	TEX15	D	1648	E	D1648E	Likely benign	0	3	5	642
MUT:TEX15:Asp1896Glu	PROT:Q9BXT5	TEX15	D	1896	E	D1896E	Benign	0	1	5	652
MUT:TEX15:Cys2040Gly	PROT:Q9BXT5	TEX15	C	2040	G	C2040G	Likely pathogenic	1	1	5	508
MUT:TEX15:Glu2043Lys	PROT:Q9BXT5	TEX15	E	2043	K	E2043K	Likely benign	0	1	5	505
MUT:TEX15:Glu2349Lys	PROT:Q9BXT5	TEX15	E	2349	K	E2349K	Benign	0	1	5	199
MUT:TEX15:Ile1055Thr	PROT:Q9BXT5	TEX15	I	1055	T	I1055T	Likely benign	0	1	5	49
MUT:TEX15:Leu1953Val	PROT:Q9BXT5	TEX15	L	1953	V	L1953V	Likely benign	0	1	5	595
MUT:TEX15:Leu2954Val	PROT:Q9BXT5	TEX15	L	2954	V	L2954V	Likely benign	0	1	5	405
MUT:TEX15:Pro1170Leu	PROT:Q9BXT5	TEX15	P	1170	L	P1170L	Likely benign	0	1	5	164
MUT:TEX15:Ser2373Asn	PROT:Q9BXT5	TEX15	S	2373	N	S2373N	Benign/Likely benign	0	2	5	175
MUT:TEX15:Ser3123Phe	PROT:Q9BXT5	TEX15	S	3123	F	S3123F	Benign/Likely benign	0	1	5	574
MUT:TF:Ala477Pro	PROT:P02787	TF	A	477	P	A477P	Pathogenic	1	1	13	1
MUT:TF:Ala76Val	PROT:P02787	TF	A	76	V	A76V	Likely benign	0	1	13	68
MUT:TF:Arg609Trp	PROT:P02787	TF	R	609	W	R609W	Likely pathogenic	1	1	13	72
MUT:TF:Asp296Gly	PROT:P02787	TF	D	296	G	D296G	Benign/Likely benign	0	1	13	9
MUT:TF:Asp77Asn	PROT:P02787	TF	D	77	N	D77N	Pathogenic	1	1	13	67
MUT:TF:Gly277Asp	PROT:P02787	TF	G	277	D	G277D	Pathogenic	1	1	13	28
MUT:TF:Gly277Ser	PROT:P02787	TF	G	277	S	G277S	Benign	0	3	13	28
MUT:TF:Gly671Glu	PROT:P02787	TF	G	671	E	G671E	Likely benign	0	3	13	14
MUT:TF:His319Arg	PROT:P02787	TF	H	319	R	H319R	Benign	0	2	13	13
MUT:TF:Lys646Glu	PROT:P02787	TF	K	646	E	K646E	Pathogenic	1	1	13	39
MUT:TF:Pro482Ser	PROT:P02787	TF	P	482	S	P482S	Likely pathogenic	1	1	13	6
MUT:TF:Pro589Ser	PROT:P02787	TF	P	589	S	P589S	Benign	0	2	13	52
MUT:TF:Ser174Leu	PROT:P02787	TF	S	174	L	S174L	Likely benign	0	2	13	30
MUT:TF:Ser635Leu	PROT:P02787	TF	S	635	L	S635L	Likely benign	0	1	13	50
MUT:TFAP2A:Ala258Val	PROT:P05549	TFAP2A	A	258	V	A258V	Pathogenic/Likely pathogenic	1	1	21	0
MUT:TFAP2A:Ala299Pro	PROT:P05549	TFAP2A	A	299	P	A299P	Likely pathogenic	1	1	21	16
MUT:TFAP2A:Arg219Ser	PROT:P05549	TFAP2A	R	219	S	R219S	Pathogenic	1	1	21	0
MUT:TFAP2A:Arg238Trp	PROT:P05549	TFAP2A	R	238	W	R238W	Likely pathogenic	1	1	21	1
MUT:TFAP2A:Arg239Gln	PROT:P05549	TFAP2A	R	239	Q	R239Q	Pathogenic/Likely pathogenic	1	1	21	0
MUT:TFAP2A:Arg239Pro	PROT:P05549	TFAP2A	R	239	P	R239P	Pathogenic	1	1	21	0
MUT:TFAP2A:Arg256Gln	PROT:P05549	TFAP2A	R	256	Q	R256Q	Pathogenic/Likely pathogenic	1	1	21	2
MUT:TFAP2A:Arg256Gly	PROT:P05549	TFAP2A	R	256	G	R256G	Pathogenic	1	1	21	2
MUT:TFAP2A:Arg256Trp	PROT:P05549	TFAP2A	R	256	W	R256W	Pathogenic	1	1	21	2
MUT:TFAP2A:Arg257Gly	PROT:P05549	TFAP2A	R	257	G	R257G	Pathogenic/Likely pathogenic	1	1	21	1
MUT:TFAP2A:Arg257Trp	PROT:P05549	TFAP2A	R	257	W	R257W	Pathogenic	1	2	21	1
MUT:TFAP2A:Asn247Asp	PROT:P05549	TFAP2A	N	247	D	N247D	Likely pathogenic	1	1	21	8
MUT:TFAP2A:Glu165Gln	PROT:P05549	TFAP2A	E	165	Q	E165Q	Likely benign	0	1	21	12
MUT:TFAP2A:Glu235Asp	PROT:P05549	TFAP2A	E	235	D	E235D	Pathogenic	1	1	21	4
MUT:TFAP2A:Glu235Lys	PROT:P05549	TFAP2A	E	235	K	E235K	Likely pathogenic	1	1	21	4
MUT:TFAP2A:Glu244Lys	PROT:P05549	TFAP2A	E	244	K	E244K	Likely pathogenic	1	1	21	5
MUT:TFAP2A:Glu298Lys	PROT:P05549	TFAP2A	E	298	K	E298K	Pathogenic	1	1	21	17
MUT:TFAP2A:Gly252Asp	PROT:P05549	TFAP2A	G	252	D	G252D	Likely pathogenic	1	1	21	6
MUT:TFAP2A:Gly253Glu	PROT:P05549	TFAP2A	G	253	E	G253E	Likely pathogenic	1	1	21	5
MUT:TFAP2A:Gly264Glu	PROT:P05549	TFAP2A	G	264	E	G264E	Pathogenic	1	1	21	6
MUT:TFAP2A:His386Tyr	PROT:P05549	TFAP2A	H	386	Y	H386Y	Likely pathogenic	1	1	21	25
MUT:TFAP2A:Leu240Pro	PROT:P05549	TFAP2A	L	240	P	L240P	Likely pathogenic	1	1	21	1
MUT:TFAP2A:Leu251Pro	PROT:P05549	TFAP2A	L	251	P	L251P	Pathogenic	1	1	21	7
MUT:TFAP2A:Lys261Glu	PROT:P05549	TFAP2A	K	261	E	K261E	Likely pathogenic	1	1	21	3
MUT:TFAP2A:Phe213Leu	PROT:P05549	TFAP2A	F	213	L	F213L	Likely pathogenic	1	1	21	6
MUT:TFAP2A:Val216Asp	PROT:P05549	TFAP2A	V	216	D	V216D	Pathogenic	1	1	21	3
MUT:TFB1M:Asp1572Glu	PROT:Q8WVM0	TFB1M	D	1572	E	D1572E	Benign	0	5	3	1276
MUT:TFG:Arg106Cys	PROT:Q92734	TFG	R	106	C	R106C	Pathogenic	1	1	32	3
MUT:TFG:Arg42Gly	PROT:Q92734	TFG	R	42	G	R42G	Likely pathogenic	1	1	32	8
MUT:TFG:Gly269Val	PROT:Q92734	TFG	G	269	V	G269V	Pathogenic/Likely pathogenic	1	2	32	22
MUT:TFG:Pro285Leu	PROT:Q92734	TFG	P	285	L	P285L	Pathogenic/Likely pathogenic	1	2	32	38
MUT:TFIP11:Arg8Gln	PROT:Q9UBB9	TFIP11	R	8	Q	R8Q	Benign/Likely benign	0	15	26	51
MUT:TFR2:Ala347Thr	PROT:Q9UP52	TFR2	A	347	T	A347T	Likely benign	0	1	5	171
MUT:TFR2:Arg152His	PROT:Q9UP52	TFR2	R	152	H	R152H	Likely benign	0	1	5	24
MUT:TFR2:Arg262Gly	PROT:Q9UP52	TFR2	R	262	G	R262G	Likely benign	0	1	5	86
MUT:TFR2:Arg398Gln	PROT:Q9UP52	TFR2	R	398	Q	R398Q	Likely benign	0	2	5	222
MUT:TFR2:Arg637His	PROT:Q9UP52	TFR2	R	637	H	R637H	Likely benign	0	1	5	28
MUT:TFR2:Arg678Pro	PROT:Q9UP52	TFR2	R	678	P	R678P	Likely pathogenic	1	2	5	13
MUT:TFR2:Arg752His	PROT:Q9UP52	TFR2	R	752	H	R752H	Benign/Likely benign	0	2	5	87
MUT:TFR2:Gln24Lys	PROT:Q9UP52	TFR2	Q	24	K	Q24K	Likely benign	0	1	5	1
MUT:TFR2:Gln690Pro	PROT:Q9UP52	TFR2	Q	690	P	Q690P	Likely pathogenic	1	1	5	25
MUT:TFR2:Glu125Ala	PROT:Q9UP52	TFR2	E	125	A	E125A	Likely benign	0	2	5	51
MUT:TFR2:Gly41Arg	PROT:Q9UP52	TFR2	G	41	R	G41R	Likely benign	0	1	5	10
MUT:TFR2:Gly792Arg	PROT:Q9UP52	TFR2	G	792	R	G792R	Likely pathogenic	1	2	5	127
MUT:TFR2:Ile238Met	PROT:Q9UP52	TFR2	I	238	M	I238M	Benign/Likely benign	0	2	5	62
MUT:TFR2:Ile417Val	PROT:Q9UP52	TFR2	I	417	V	I417V	Likely benign	0	2	5	241
MUT:TFR2:Leu224Arg	PROT:Q9UP52	TFR2	L	224	R	L224R	Pathogenic	1	1	5	48
MUT:TFR2:Leu256Arg	PROT:Q9UP52	TFR2	L	256	R	L256R	Benign	0	2	5	80
MUT:TFR2:Met172Lys	PROT:Q9UP52	TFR2	M	172	K	M172K	Pathogenic	1	2	5	4
MUT:TFR2:Met588Leu	PROT:Q9UP52	TFR2	M	588	L	M588L	Likely benign	0	2	5	77
MUT:TFR2:Ser470Ile	PROT:Q9UP52	TFR2	S	470	I	S470I	Pathogenic/Likely pathogenic	1	2	5	195
MUT:TFR2:Thr160Ile	PROT:Q9UP52	TFR2	T	160	I	T160I	Likely benign	0	1	5	16
MUT:TFR2:Tyr197Cys	PROT:Q9UP52	TFR2	Y	197	C	Y197C	Likely benign	0	2	5	21
MUT:TFR2:Tyr547Phe	PROT:Q9UP52	TFR2	Y	547	F	Y547F	Likely benign	0	2	5	118
MUT:TFR2:Val273Met	PROT:Q9UP52	TFR2	V	273	M	V273M	Likely benign	0	1	5	97
MUT:TGDS:Ala100Ser	PROT:O95455	TGDS	A	100	S	A100S	Pathogenic/Likely pathogenic	1	2	6	33
MUT:TGDS:Asn298Asp	PROT:O95455	TGDS	N	298	D	N298D	Pathogenic	1	1	6	4
MUT:TGDS:Glu322Lys	PROT:O95455	TGDS	E	322	K	E322K	Likely pathogenic	1	1	6	20
MUT:TGDS:Glu90Gly	PROT:O95455	TGDS	E	90	G	E90G	Pathogenic	1	1	6	23
MUT:TGDS:Met33Val	PROT:O95455	TGDS	M	33	V	M33V	Likely benign	0	1	6	26
MUT:TGDS:Phe98Leu	PROT:O95455	TGDS	F	98	L	F98L	Pathogenic	1	1	6	31
MUT:TGDS:Thr102Ile	PROT:O95455	TGDS	T	102	I	T102I	Likely pathogenic	1	1	6	35
MUT:TGDS:Tyr234His	PROT:O95455	TGDS	Y	234	H	Y234H	Pathogenic/Likely pathogenic	1	1	6	25
MUT:TGFB2:Arg299Gln	PROT:P61812	TGFB2	R	299	Q	R299Q	Pathogenic/Likely pathogenic	1	4	4	34
MUT:TGFB2:Arg299Trp	PROT:P61812	TGFB2	R	299	W	R299W	Pathogenic/Likely pathogenic	1	4	4	34
MUT:TGFB2:Arg302Cys	PROT:P61812	TGFB2	R	302	C	R302C	Pathogenic/Likely pathogenic	1	4	4	31
MUT:TGFB2:Arg302His	PROT:P61812	TGFB2	R	302	H	R302H	Pathogenic/Likely pathogenic	1	2	4	31
MUT:TGFB2:Arg302Ser	PROT:P61812	TGFB2	R	302	S	R302S	Pathogenic/Likely pathogenic	1	1	4	31
MUT:TGFB2:Arg320Cys	PROT:P61812	TGFB2	R	320	C	R320C	Pathogenic/Likely pathogenic	1	3	4	13
MUT:TGFB2:Arg91His	PROT:P61812	TGFB2	R	91	H	R91H	Benign/Likely benign	0	5	4	10
MUT:TGFB2:Cys380Phe	PROT:P61812	TGFB2	C	380	F	C380F	Likely pathogenic	1	1	4	39
MUT:TGFB2:Cys4Tyr	PROT:P61812	TGFB2	C	4	Y	C4Y	Likely benign	0	2	4	77
MUT:TGFB2:Gly348Arg	PROT:P61812	TGFB2	G	348	R	G348R	Pathogenic	1	1	4	7
MUT:TGFB2:Ile11Leu	PROT:P61812	TGFB2	I	11	L	I11L	Likely benign	0	1	4	70
MUT:TGFB2:Pro110Ser	PROT:P61812	TGFB2	P	110	S	P110S	Likely benign	0	1	4	29
MUT:TGFB2:Pro338His	PROT:P61812	TGFB2	P	338	H	P338H	Pathogenic	1	1	4	3
MUT:TGFB2:Pro338Thr	PROT:P61812	TGFB2	P	338	T	P338T	Pathogenic	1	1	4	3
MUT:TGFB2:Ser275Gly	PROT:P61812	TGFB2	S	275	G	S275G	Likely benign	0	2	4	58
MUT:TGFB2:Ser73Gly	PROT:P61812	TGFB2	S	73	G	S73G	Likely benign	0	1	4	8
MUT:TGFB2:Val207Leu	PROT:P61812	TGFB2	V	207	L	V207L	Benign/Likely benign	0	4	4	19
MUT:TGFBRAP1:Lys214Asn	PROT:Q8WUH2	TGFBRAP1	K	214	N	K214N	Likely benign	0	1	16	71
MUT:TGIF1:Arg90Cys	PROT:Q15583	TGIF1	R	90	C	R90C	Pathogenic	1	1	5	142
MUT:TGIF1:Arg90His	PROT:Q15583	TGIF1	R	90	H	R90H	Pathogenic/Likely pathogenic	1	1	5	142
MUT:TGIF1:Asn207Ser	PROT:Q15583	TGIF1	N	207	S	N207S	Likely benign	0	1	5	25
MUT:TGIF1:Gln107Leu	PROT:Q15583	TGIF1	Q	107	L	Q107L	Benign/Likely benign	0	1	5	125
MUT:TGIF1:His76Gln	PROT:Q15583	TGIF1	H	76	Q	H76Q	Benign	0	1	5	156
MUT:TGIF1:Pro163Leu	PROT:Q15583	TGIF1	P	163	L	P163L	Benign/Likely benign	0	1	5	69
MUT:TGIF1:Pro163Ser	PROT:Q15583	TGIF1	P	163	S	P163S	Benign/Likely benign	0	1	5	69
MUT:TGIF1:Pro63Arg	PROT:Q15583	TGIF1	P	63	R	P63R	Pathogenic	1	1	5	169
MUT:TGIF1:Thr151Ala	PROT:Q15583	TGIF1	T	151	A	T151A	Benign/Likely benign	0	1	5	81
MUT:TGIF1:Val194Gly	PROT:Q15583	TGIF1	V	194	G	V194G	Benign	0	1	5	38
MUT:TGM5:Ala352Gly	PROT:O43548	TGM5	A	352	G	A352G	Benign	0	1	2	274
MUT:TGM5:Arg215Trp	PROT:O43548	TGM5	R	215	W	R215W	Likely pathogenic	1	1	2	137
MUT:TGM5:Arg346Gln	PROT:O43548	TGM5	R	346	Q	R346Q	Likely pathogenic	1	1	2	268
MUT:TGM5:Arg437Trp	PROT:O43548	TGM5	R	437	W	R437W	Benign	0	1	2	359
MUT:TGM5:Cys105Tyr	PROT:O43548	TGM5	C	105	Y	C105Y	Benign	0	1	2	27
MUT:TGM5:Gln170Arg	PROT:O43548	TGM5	Q	170	R	Q170R	Likely benign	0	1	2	92
MUT:TGM5:Gln473His	PROT:O43548	TGM5	Q	473	H	Q473H	Likely benign	0	1	2	395
MUT:TGM5:Gln521Arg	PROT:O43548	TGM5	Q	521	R	Q521R	Benign	0	2	2	443
MUT:TGM5:Glu607Ala	PROT:O43548	TGM5	E	607	A	E607A	Benign/Likely benign	0	2	2	529
MUT:TGM5:Lys330Met	PROT:O43548	TGM5	K	330	M	K330M	Likely benign	0	1	2	252
MUT:TGM5:Lys608Glu	PROT:O43548	TGM5	K	608	E	K608E	Benign	0	1	2	530
MUT:TGM5:Phe39Ile	PROT:O43548	TGM5	F	39	I	F39I	Likely pathogenic	1	1	2	37
MUT:TGM5:Phe670Leu	PROT:O43548	TGM5	F	670	L	F670L	Likely benign	0	1	2	592
MUT:TGM5:Pro393Ala	PROT:O43548	TGM5	P	393	A	P393A	Likely benign	0	1	2	315
MUT:TGM5:Ser15Cys	PROT:O43548	TGM5	S	15	C	S15C	Benign	0	1	2	13
MUT:TGM5:Ser172Asn	PROT:O43548	TGM5	S	172	N	S172N	Likely benign	0	1	2	94
MUT:TGM5:Thr109Met	PROT:O43548	TGM5	T	109	M	T109M	Benign	0	1	2	31
MUT:TGM5:Trp255Arg	PROT:O43548	TGM5	W	255	R	W255R	Pathogenic/Likely pathogenic	1	1	2	177
MUT:TGM5:Val504Met	PROT:O43548	TGM5	V	504	M	V504M	Benign	0	1	2	426
MUT:TGM5:Val631Ile	PROT:O43548	TGM5	V	631	I	V631I	Likely benign	0	1	2	553
MUT:TGM5:Val657Ala	PROT:O43548	TGM5	V	657	A	V657A	Benign	0	2	2	579
MUT:TGM6:Ala141Glu	PROT:O95932	TGM6	A	141	E	A141E	Benign	0	2	5	26
MUT:TGM6:Ala376Thr	PROT:O95932	TGM6	A	376	T	A376T	Benign/Likely benign	0	1	5	91
MUT:TGM6:Arg111Cys	PROT:O95932	TGM6	R	111	C	R111C	Likely pathogenic	1	2	5	4
MUT:TGM6:Arg127Trp	PROT:O95932	TGM6	R	127	W	R127W	Benign/Likely benign	0	1	5	12
MUT:TGM6:Arg319Gln	PROT:O95932	TGM6	R	319	Q	R319Q	Benign/Likely benign	0	1	5	148
MUT:TGM6:Arg368Gln	PROT:O95932	TGM6	R	368	Q	R368Q	Benign/Likely benign	0	1	5	99
MUT:TGM6:Arg412His	PROT:O95932	TGM6	R	412	H	R412H	Benign/Likely benign	0	1	5	55
MUT:TGM6:Arg448Trp	PROT:O95932	TGM6	R	448	W	R448W	Benign/Likely benign	0	1	5	19
MUT:TGM6:Arg665Ser	PROT:O95932	TGM6	R	665	S	R665S	Benign	0	1	5	198
MUT:TGM6:Asn331Ser	PROT:O95932	TGM6	N	331	S	N331S	Benign/Likely benign	0	2	5	136
MUT:TGM6:Glu406Lys	PROT:O95932	TGM6	E	406	K	E406K	Benign/Likely benign	0	1	5	61
MUT:TGM6:Gly508Asp	PROT:O95932	TGM6	G	508	D	G508D	Benign/Likely benign	0	2	5	41
MUT:TGM6:Gly82Ala	PROT:O95932	TGM6	G	82	A	G82A	Benign/Likely benign	0	2	5	14
MUT:TGM6:Gly84Ala	PROT:O95932	TGM6	G	84	A	G84A	Likely benign	0	1	5	12
MUT:TGM6:Ile400Val	PROT:O95932	TGM6	I	400	V	I400V	Benign	0	1	5	67
MUT:TGM6:Ile4Met	PROT:O95932	TGM6	I	4	M	I4M	Benign/Likely benign	0	2	5	92
MUT:TGM6:Met58Val	PROT:O95932	TGM6	M	58	V	M58V	Benign	0	1	5	38
MUT:TGM6:Met93Val	PROT:O95932	TGM6	M	93	V	M93V	Benign/Likely benign	0	2	5	3
MUT:TGM6:Pro347Leu	PROT:O95932	TGM6	P	347	L	P347L	Benign	0	1	5	120
MUT:TGM6:Pro493Leu	PROT:O95932	TGM6	P	493	L	P493L	Likely benign	0	1	5	26
MUT:TGM6:Pro564Ser	PROT:O95932	TGM6	P	564	S	P564S	Benign/Likely benign	0	2	5	97
MUT:TGM6:Ser161Gly	PROT:O95932	TGM6	S	161	G	S161G	Benign/Likely benign	0	1	5	46
MUT:TGM6:Ser455Arg	PROT:O95932	TGM6	S	455	R	S455R	Likely benign	0	1	5	12
MUT:TGM6:Trp11Gly	PROT:O95932	TGM6	W	11	G	W11G	Benign/Likely benign	0	1	5	85
MUT:TGM6:Trp251Arg	PROT:O95932	TGM6	W	251	R	W251R	Benign/Likely benign	0	1	5	136
MUT:TGM6:Val168Met	PROT:O95932	TGM6	V	168	M	V168M	Benign/Likely benign	0	1	5	53
MUT:TGM6:Val208Met	PROT:O95932	TGM6	V	208	M	V208M	Likely benign	0	1	5	93
MUT:TGM6:Val295Met	PROT:O95932	TGM6	V	295	M	V295M	Benign	0	1	5	172
MUT:TGM6:Val391Met	PROT:O95932	TGM6	V	391	M	V391M	Benign	0	1	5	76
MUT:TGM6:Val527Glu	PROT:O95932	TGM6	V	527	E	V527E	Benign/Likely benign	0	1	5	60
MUT:TGM6:Val553Met	PROT:O95932	TGM6	V	553	M	V553M	Benign	0	1	5	86
MUT:TGS1:Ile160Val	PROT:Q96RS0	TGS1	I	160	V	I160V	Benign	0	5	24	6
MUT:TGS1:Pro299Ser	PROT:Q96RS0	TGS1	P	299	S	P299S	Benign	0	3	24	1
MUT:TH:Ala210Thr	PROT:P07101	TH	A	210	T	A210T	Pathogenic/Likely pathogenic	1	1	9	20
MUT:TH:Ala345Val	PROT:P07101	TH	A	345	V	A345V	Likely pathogenic	1	1	9	74
MUT:TH:Ala6Thr	PROT:P07101	TH	A	6	T	A6T	Benign/Likely benign	0	2	9	3
MUT:TH:Arg202Cys	PROT:P07101	TH	R	202	C	R202C	Likely pathogenic	1	1	9	28
MUT:TH:Arg202His	PROT:P07101	TH	R	202	H	R202H	Pathogenic	1	1	9	28
MUT:TH:Arg214Met	PROT:P07101	TH	R	214	M	R214M	Pathogenic/Likely pathogenic	1	1	9	16
MUT:TH:Arg221His	PROT:P07101	TH	R	221	H	R221H	Likely benign	0	1	9	9
MUT:TH:Arg288Pro	PROT:P07101	TH	R	288	P	R288P	Likely pathogenic	1	1	9	58
MUT:TH:Arg297Trp	PROT:P07101	TH	R	297	W	R297W	Pathogenic/Likely pathogenic	1	1	9	67
MUT:TH:Arg306Cys	PROT:P07101	TH	R	306	C	R306C	Likely pathogenic	1	1	9	76
MUT:TH:Arg306His	PROT:P07101	TH	R	306	H	R306H	Pathogenic/Likely pathogenic	1	1	9	76
MUT:TH:Arg410Pro	PROT:P07101	TH	R	410	P	R410P	Likely pathogenic	1	1	9	9
MUT:TH:Arg453Cys	PROT:P07101	TH	R	453	C	R453C	Likely pathogenic	1	1	9	34
MUT:TH:Asp413Asn	PROT:P07101	TH	D	413	N	D413N	Benign	0	1	9	6
MUT:TH:Asp467Gly	PROT:P07101	TH	D	467	G	D467G	Pathogenic/Likely pathogenic	1	1	9	35
MUT:TH:Asp467Tyr	PROT:P07101	TH	D	467	Y	D467Y	Likely pathogenic	1	1	9	35
MUT:TH:Cys328Phe	PROT:P07101	TH	C	328	F	C328F	Likely pathogenic	1	1	9	91
MUT:TH:Gln212Pro	PROT:P07101	TH	Q	212	P	Q212P	Likely pathogenic	1	1	9	18
MUT:TH:Gln381Lys	PROT:P07101	TH	Q	381	K	Q381K	Pathogenic/Likely pathogenic	1	1	9	38
MUT:TH:Gly216Ser	PROT:P07101	TH	G	216	S	G216S	Pathogenic/Likely pathogenic	1	3	9	14
MUT:TH:Gly284Ser	PROT:P07101	TH	G	284	S	G284S	Pathogenic/Likely pathogenic	1	1	9	54
MUT:TH:Gly383Arg	PROT:P07101	TH	G	383	R	G383R	Pathogenic/Likely pathogenic	1	1	9	36
MUT:TH:Gly397Arg	PROT:P07101	TH	G	397	R	G397R	Pathogenic/Likely pathogenic	1	1	9	22
MUT:TH:His215Tyr	PROT:P07101	TH	H	215	Y	H215Y	Likely pathogenic	1	1	9	15
MUT:TH:Ile229Phe	PROT:P07101	TH	I	229	F	I229F	Likely benign	0	2	9	1
MUT:TH:Ile351Thr	PROT:P07101	TH	I	351	T	I351T	Pathogenic/Likely pathogenic	1	1	9	68
MUT:TH:Ile363Thr	PROT:P07101	TH	I	363	T	I363T	Likely pathogenic	1	1	9	56
MUT:TH:Leu205Pro	PROT:P07101	TH	L	205	P	L205P	Pathogenic/Likely pathogenic	1	1	9	25
MUT:TH:Leu272Arg	PROT:P07101	TH	L	272	R	L272R	Likely pathogenic	1	1	9	42
MUT:TH:Phe278Ser	PROT:P07101	TH	F	278	S	F278S	Likely pathogenic	1	1	9	48
MUT:TH:Phe344Leu	PROT:P07101	TH	F	344	L	F344L	Likely pathogenic	1	1	9	75
MUT:TH:Pro461Leu	PROT:P07101	TH	P	461	L	P461L	Pathogenic/Likely pathogenic	1	1	9	41
MUT:TH:Ser276Ala	PROT:P07101	TH	S	276	A	S276A	Likely pathogenic	1	1	9	46
MUT:TH:Ser276Tyr	PROT:P07101	TH	S	276	Y	S276Y	Likely pathogenic	1	1	9	46
MUT:TH:Ser434Pro	PROT:P07101	TH	S	434	P	S434P	Likely pathogenic	1	1	9	15
MUT:TH:Thr231Ser	PROT:P07101	TH	T	231	S	T231S	Likely pathogenic	1	2	9	1
MUT:TH:Thr368Met	PROT:P07101	TH	T	368	M	T368M	Pathogenic/Likely pathogenic	1	1	9	51
MUT:TH:Val136Glu	PROT:P07101	TH	V	136	E	V136E	Likely pathogenic	1	1	9	18
MUT:TH:Val81Met	PROT:P07101	TH	V	81	M	V81M	Benign/Likely benign	0	2	9	10
MUT:THAP11:Phe80Leu	PROT:Q96EK4	THAP11	F	80	L	F80L	Likely pathogenic	1	3	2	52
MUT:THBS1:Asn601Ser	PROT:P07996	THBS1	N	601	S	N601S	Likely benign	0	1	5	26
MUT:THBS1:Thr523Ala	PROT:P07996	THBS1	T	523	A	T523A	Benign	0	1	5	104
MUT:THBS2:Ala1025Val	PROT:P35442	THBS2	A	1025	V	A1025V	Benign	0	1	3	546
MUT:THBS2:Cys896Arg	PROT:P35442	THBS2	C	896	R	C896R	Pathogenic	1	2	3	417
MUT:THBS2:Glu253Lys	PROT:P35442	THBS2	E	253	K	E253K	Likely benign	0	1	3	5
MUT:THBS2:Gly735Arg	PROT:P35442	THBS2	G	735	R	G735R	Likely benign	0	1	3	256
MUT:THBS2:Gly830Ser	PROT:P35442	THBS2	G	830	S	G830S	Benign	0	1	3	351
MUT:THBS2:Pro1089Leu	PROT:P35442	THBS2	P	1089	L	P1089L	Benign	0	1	3	610
MUT:THBS2:Ser298Leu	PROT:P35442	THBS2	S	298	L	S298L	Benign	0	1	3	40
MUT:THOC6:Arg115His	PROT:Q86W42	THOC6	R	115	H	R115H	Likely benign	0	1	4	48
MUT:THOC6:Gln204Pro	PROT:Q86W42	THOC6	Q	204	P	Q204P	Pathogenic	1	1	4	3
MUT:THOC6:Gly190Glu	PROT:Q86W42	THOC6	G	190	E	G190E	Pathogenic/Likely pathogenic	1	3	4	11
MUT:THOC6:Gly275Asp	PROT:Q86W42	THOC6	G	275	D	G275D	Pathogenic/Likely pathogenic	1	3	4	25
MUT:THOC6:Gly46Arg	PROT:Q86W42	THOC6	G	46	R	G46R	Likely pathogenic	1	1	4	21
MUT:THOC6:Ile254Val	PROT:Q86W42	THOC6	I	254	V	I254V	Likely benign	0	1	4	4
MUT:THOC6:Trp100Arg	PROT:Q86W42	THOC6	W	100	R	W100R	Pathogenic/Likely pathogenic	1	3	4	33
MUT:THOP1:Cys350Arg	PROT:P52888	THOP1	C	350	R	C350R	Likely benign	0	1	28	33
MUT:THRA:Ala263Val	PROT:P10827	THRA	A	263	V	A263V	Pathogenic/Likely pathogenic	1	1	2	64
MUT:THRA:Arg28Lys	PROT:P10827	THRA	R	28	K	R28K	Likely benign	0	1	2	16
MUT:THRA:Asp166Gly	PROT:P10827	THRA	D	166	G	D166G	Likely benign	0	1	2	33
MUT:THRA:Glu173Gly	PROT:P10827	THRA	E	173	G	E173G	Likely pathogenic	1	1	2	26
MUT:THRA:Glu403Lys	PROT:P10827	THRA	E	403	K	E403K	Pathogenic	1	1	2	204
MUT:THRA:Gly291Ser	PROT:P10827	THRA	G	291	S	G291S	Pathogenic	1	1	2	92
MUT:THRA:His381Tyr	PROT:P10827	THRA	H	381	Y	H381Y	Likely pathogenic	1	1	2	182
MUT:THRA:Ile170Val	PROT:P10827	THRA	I	170	V	I170V	Benign	0	1	2	29
MUT:THRA:Ile299Thr	PROT:P10827	THRA	I	299	T	I299T	Likely pathogenic	1	1	2	100
MUT:THRA:Lys370Asn	PROT:P10827	THRA	K	370	N	K370N	Pathogenic	1	1	2	171
MUT:THRA:Pro398Arg	PROT:P10827	THRA	P	398	R	P398R	Pathogenic	1	1	2	199
MUT:THRA:Ser45Ile	PROT:P10827	THRA	S	45	I	S45I	Pathogenic	1	1	2	33
MUT:THRA:Thr273Asn	PROT:P10827	THRA	T	273	N	T273N	Likely pathogenic	1	1	2	74
MUT:TIAM1:Ala1339Val	PROT:Q13009	TIAM1	A	1339	V	A1339V	Pathogenic	1	1	31	2
MUT:TIAM1:Ala1547Glu	PROT:Q13009	TIAM1	A	1547	E	A1547E	Pathogenic	1	1	31	5
MUT:TIAM1:Ala1569Thr	PROT:Q13009	TIAM1	A	1569	T	A1569T	Likely benign	0	1	31	27
MUT:TIAM1:Ala668Gly	PROT:Q13009	TIAM1	A	668	G	A668G	Likely pathogenic	1	1	31	27
MUT:TIAM1:Arg1007His	PROT:Q13009	TIAM1	R	1007	H	R1007H	Likely benign	0	1	31	135
MUT:TIAM1:Arg31His	PROT:Q13009	TIAM1	R	31	H	R31H	Benign	0	1	31	5
MUT:TIAM1:Asp1023Val	PROT:Q13009	TIAM1	D	1023	V	D1023V	Benign	0	1	31	119
MUT:TIAM1:Gln1078Glu	PROT:Q13009	TIAM1	Q	1078	E	Q1078E	Likely benign	0	1	31	64
MUT:TIAM1:Gln844His	PROT:Q13009	TIAM1	Q	844	H	Q844H	Benign	0	1	31	149
MUT:TIAM1:Gly247Arg	PROT:Q13009	TIAM1	G	247	R	G247R	Benign	0	1	31	16
MUT:TIAM1:Gly247Val	PROT:Q13009	TIAM1	G	247	V	G247V	Benign	0	1	31	16
MUT:TIAM1:Gly328Val	PROT:Q13009	TIAM1	G	328	V	G328V	Pathogenic	1	1	31	1
MUT:TIAM1:Gly382Arg	PROT:Q13009	TIAM1	G	382	R	G382R	Pathogenic	1	1	31	2
MUT:TIAM1:Lys1469Arg	PROT:Q13009	TIAM1	K	1469	R	K1469R	Benign	0	1	31	3
MUT:TIAM1:Val112Ile	PROT:Q13009	TIAM1	V	112	I	V112I	Likely benign	0	1	31	58
MUT:TIMELESS:Arg395Gln	PROT:Q9UNS1	TIMELESS	R	395	Q	R395Q	Likely benign	0	2	18	82
MUT:TIMM50:Ala222Thr	PROT:Q3ZCQ8	TIMM50	A	222	T	A222T	Pathogenic	1	1	4	1
MUT:TIMM50:Gly269Ser	PROT:Q3ZCQ8	TIMM50	G	269	S	G269S	Pathogenic	1	1	4	46
MUT:TIMM50:Gly56Ala	PROT:Q3ZCQ8	TIMM50	G	56	A	G56A	Likely benign	0	1	4	11
MUT:TIMM50:Gly87Ala	PROT:Q3ZCQ8	TIMM50	G	87	A	G87A	Pathogenic	1	2	4	42
MUT:TIMM50:Pro348Ser	PROT:Q3ZCQ8	TIMM50	P	348	S	P348S	Likely benign	0	1	4	125
MUT:TIMM50:Ser9Trp	PROT:Q3ZCQ8	TIMM50	S	9	W	S9W	Benign/Likely benign	0	2	4	36
MUT:TIMM50:Thr149Met	PROT:Q3ZCQ8	TIMM50	T	149	M	T149M	Likely pathogenic	1	1	4	1
MUT:TIMMDC1:Asn76Asp	PROT:Q9NPL8	TIMMDC1	N	76	D	N76D	Benign	0	1	7	37
MUT:TIMMDC1:Cys78Arg	PROT:Q9NPL8	TIMMDC1	C	78	R	C78R	Benign	0	1	7	35
MUT:TIMMDC1:Met1Val	PROT:Q9NPL8	TIMMDC1	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	7	112
MUT:TIMMDC1:Val217Ile	PROT:Q9NPL8	TIMMDC1	V	217	I	V217I	Benign	0	1	7	15
MUT:TIMP3:Gly189Cys	PROT:P35625	TIMP3	G	189	C	G189C	Likely pathogenic	1	1	4	6
MUT:TIMP3:Leu104Pro	PROT:P35625	TIMP3	L	104	P	L104P	Likely pathogenic	1	1	4	4
MUT:TIMP3:Ser179Cys	PROT:P35625	TIMP3	S	179	C	S179C	Pathogenic	1	2	4	2
MUT:TIMP3:Ser204Cys	PROT:P35625	TIMP3	S	204	C	S204C	Pathogenic	1	2	4	9
MUT:TIMP3:Ser38Cys	PROT:P35625	TIMP3	S	38	C	S38C	Pathogenic/Likely pathogenic	1	1	4	62
MUT:TIMP3:Tyr177Cys	PROT:P35625	TIMP3	Y	177	C	Y177C	Pathogenic	1	1	4	0
MUT:TIMP3:Tyr182Cys	PROT:P35625	TIMP3	Y	182	C	Y182C	Pathogenic	1	1	4	0
MUT:TIMP3:Tyr191Cys	PROT:P35625	TIMP3	Y	191	C	Y191C	Pathogenic	1	1	4	4
MUT:TIMP3:Val97Ile	PROT:P35625	TIMP3	V	97	I	V97I	Benign	0	1	4	3
MUT:TINF2:Arg282Cys	PROT:Q9BSI4	TINF2	R	282	C	R282C	Pathogenic	1	3	8	7
MUT:TINF2:Arg282His	PROT:Q9BSI4	TINF2	R	282	H	R282H	Pathogenic	1	4	8	7
MUT:TINF2:Arg282Ser	PROT:Q9BSI4	TINF2	R	282	S	R282S	Pathogenic	1	3	8	7
MUT:TINF2:Gln120Arg	PROT:Q9BSI4	TINF2	Q	120	R	Q120R	Benign/Likely benign	0	3	8	1
MUT:TINF2:Gly237Asp	PROT:Q9BSI4	TINF2	G	237	D	G237D	Benign	0	3	8	38
MUT:TINF2:Gly25Ala	PROT:Q9BSI4	TINF2	G	25	A	G25A	Benign/Likely benign	0	4	8	94
MUT:TINF2:Gly433Arg	PROT:Q9BSI4	TINF2	G	433	R	G433R	Likely benign	0	1	8	37
MUT:TINF2:Leu287Pro	PROT:Q9BSI4	TINF2	L	287	P	L287P	Likely pathogenic	1	2	8	10
MUT:TINF2:Lys280Glu	PROT:Q9BSI4	TINF2	K	280	E	K280E	Pathogenic	1	2	8	5
MUT:TINF2:Met1Val	PROT:Q9BSI4	TINF2	M	1	V	M1V	Pathogenic	1	1	8	118
MUT:TINF2:Phe290Ser	PROT:Q9BSI4	TINF2	F	290	S	F290S	Likely pathogenic	1	1	8	7
MUT:TINF2:Pro236Ser	PROT:Q9BSI4	TINF2	P	236	S	P236S	Benign/Likely benign	0	5	8	39
MUT:TINF2:Pro241Ser	PROT:Q9BSI4	TINF2	P	241	S	P241S	Benign/Likely benign	0	2	8	34
MUT:TINF2:Pro283Ser	PROT:Q9BSI4	TINF2	P	283	S	P283S	Pathogenic/Likely pathogenic	1	2	8	8
MUT:TINF2:Pro289Ala	PROT:Q9BSI4	TINF2	P	289	A	P289A	Likely pathogenic	1	1	8	8
MUT:TINF2:Thr248Met	PROT:Q9BSI4	TINF2	T	248	M	T248M	Likely benign	0	1	8	27
MUT:TINF2:Thr284Ala	PROT:Q9BSI4	TINF2	T	284	A	T284A	Likely pathogenic	1	2	8	9
MUT:TINF2:Thr284Pro	PROT:Q9BSI4	TINF2	T	284	P	T284P	Pathogenic	1	1	8	9
MUT:TIRAP:Ser180Leu	PROT:P58753	TIRAP	S	180	L	S180L	Benign	0	4	1	94
MUT:TIRAP:Ser55Asn	PROT:P58753	TIRAP	S	55	N	S55N	Benign	0	1	1	31
MUT:TJP2:Asp404Asn	PROT:Q9UDY2	TJP2	D	404	N	D404N	Likely pathogenic	1	2	59	2
MUT:TJP2:Asp482Glu	PROT:Q9UDY2	TJP2	D	482	E	D482E	Benign	0	2	59	12
MUT:TJP2:Gln1169Arg	PROT:Q9UDY2	TJP2	Q	1169	R	Q1169R	Likely pathogenic	1	1	59	2
MUT:TJP2:Gly737Ser	PROT:Q9UDY2	TJP2	G	737	S	G737S	Pathogenic/Likely pathogenic	1	2	59	23
MUT:TJP2:His788Leu	PROT:Q9UDY2	TJP2	H	788	L	H788L	Likely pathogenic	1	1	59	10
MUT:TJP2:Ile875Thr	PROT:Q9UDY2	TJP2	I	875	T	I875T	Pathogenic	1	1	59	11
MUT:TJP2:Leu19Phe	PROT:Q9UDY2	TJP2	L	19	F	L19F	Benign	0	1	59	3
MUT:TJP2:Leu525Ser	PROT:Q9UDY2	TJP2	L	525	S	L525S	Likely pathogenic	1	1	59	26
MUT:TJP2:Leu79Arg	PROT:Q9UDY2	TJP2	L	79	R	L79R	Likely pathogenic	1	1	59	12
MUT:TJP2:Lys641Arg	PROT:Q9UDY2	TJP2	K	641	R	K641R	Likely benign	0	1	59	56
MUT:TJP2:Pro795Leu	PROT:Q9UDY2	TJP2	P	795	L	P795L	Likely benign	0	1	59	17
MUT:TJP2:Pro940Leu	PROT:Q9UDY2	TJP2	P	940	L	P940L	Benign/Likely benign	0	1	59	7
MUT:TJP2:Pro969Gln	PROT:Q9UDY2	TJP2	P	969	Q	P969Q	Likely pathogenic	1	1	59	3
MUT:TJP2:Ser296Asn	PROT:Q9UDY2	TJP2	S	296	N	S296N	Likely benign	0	1	59	0
MUT:TJP2:Thr364Met	PROT:Q9UDY2	TJP2	T	364	M	T364M	Benign	0	1	59	34
MUT:TJP2:Thr619Ala	PROT:Q9UDY2	TJP2	T	619	A	T619A	Likely pathogenic	1	1	59	34
MUT:TJP2:Val48Ala	PROT:Q9UDY2	TJP2	V	48	A	V48A	Pathogenic/Likely pathogenic	1	2	59	13
MUT:TK2:Ala139Glu	PROT:O00142	TK2	A	139	E	A139E	Likely pathogenic	1	1	5	42
MUT:TK2:Ala139Thr	PROT:O00142	TK2	A	139	T	A139T	Pathogenic/Likely pathogenic	1	3	5	42
MUT:TK2:Ala139Val	PROT:O00142	TK2	A	139	V	A139V	Pathogenic/Likely pathogenic	1	3	5	42
MUT:TK2:Arg130Gln	PROT:O00142	TK2	R	130	Q	R130Q	Pathogenic/Likely pathogenic	1	2	5	46
MUT:TK2:Arg130Trp	PROT:O00142	TK2	R	130	W	R130W	Pathogenic	1	3	5	46
MUT:TK2:Arg134Lys	PROT:O00142	TK2	R	134	K	R134K	Likely pathogenic	1	1	5	47
MUT:TK2:Arg134Ser	PROT:O00142	TK2	R	134	S	R134S	Likely pathogenic	1	1	5	47
MUT:TK2:Arg183Gly	PROT:O00142	TK2	R	183	G	R183G	Pathogenic/Likely pathogenic	1	1	5	1
MUT:TK2:Arg183Trp	PROT:O00142	TK2	R	183	W	R183W	Pathogenic	1	4	5	1
MUT:TK2:Arg192Gly	PROT:O00142	TK2	R	192	G	R192G	Likely pathogenic	1	1	5	2
MUT:TK2:Arg192Lys	PROT:O00142	TK2	R	192	K	R192K	Pathogenic	1	2	5	2
MUT:TK2:Arg32Trp	PROT:O00142	TK2	R	32	W	R32W	Benign/Likely benign	0	3	5	52
MUT:TK2:Asn58Ser	PROT:O00142	TK2	N	58	S	N58S	Pathogenic/Likely pathogenic	1	3	5	26
MUT:TK2:Asp42Asn	PROT:O00142	TK2	D	42	N	D42N	Likely pathogenic	1	1	5	42
MUT:TK2:Cys66Trp	PROT:O00142	TK2	C	66	W	C66W	Likely pathogenic	1	1	5	18
MUT:TK2:Glu133Ala	PROT:O00142	TK2	E	133	A	E133A	Likely pathogenic	1	1	5	48
MUT:TK2:Glu133Asp	PROT:O00142	TK2	E	133	D	E133D	Likely pathogenic	1	1	5	48
MUT:TK2:Glu133Gln	PROT:O00142	TK2	E	133	Q	E133Q	Likely pathogenic	1	1	5	48
MUT:TK2:His121Asn	PROT:O00142	TK2	H	121	N	H121N	Pathogenic	1	3	5	37
MUT:TK2:His121Asp	PROT:O00142	TK2	H	121	D	H121D	Likely pathogenic	1	1	5	37
MUT:TK2:Ile212Asn	PROT:O00142	TK2	I	212	N	I212N	Pathogenic	1	2	5	22
MUT:TK2:Ile53Met	PROT:O00142	TK2	I	53	M	I53M	Likely pathogenic	1	2	5	31
MUT:TK2:Leu215Pro	PROT:O00142	TK2	L	215	P	L215P	Pathogenic/Likely pathogenic	1	1	5	25
MUT:TK2:Lys194Asn	PROT:O00142	TK2	K	194	N	K194N	Likely pathogenic	1	1	5	4
MUT:TK2:Met117Val	PROT:O00142	TK2	M	117	V	M117V	Pathogenic/Likely pathogenic	1	1	5	33
MUT:TK2:Met132Thr	PROT:O00142	TK2	M	132	T	M132T	Likely pathogenic	1	1	5	48
MUT:TK2:Met1Val	PROT:O00142	TK2	M	1	V	M1V	Pathogenic	1	1	5	83
MUT:TK2:Ser135Leu	PROT:O00142	TK2	S	135	L	S135L	Pathogenic	1	1	5	46
MUT:TK2:Ser138Arg	PROT:O00142	TK2	S	138	R	S138R	Pathogenic	1	1	5	43
MUT:TK2:Ser138Gly	PROT:O00142	TK2	S	138	G	S138G	Likely pathogenic	1	1	5	43
MUT:TK2:Thr108Met	PROT:O00142	TK2	T	108	M	T108M	Pathogenic	1	5	5	24
MUT:TK2:Thr184Ile	PROT:O00142	TK2	T	184	I	T184I	Likely pathogenic	1	1	5	0
MUT:TK2:Thr188Ala	PROT:O00142	TK2	T	188	A	T188A	Likely pathogenic	1	2	5	0
MUT:TK2:Thr64Met	PROT:O00142	TK2	T	64	M	T64M	Pathogenic/Likely pathogenic	1	2	5	20
MUT:TK2:Tyr112Asn	PROT:O00142	TK2	Y	112	N	Y112N	Likely pathogenic	1	1	5	28
MUT:TK2:Tyr208Cys	PROT:O00142	TK2	Y	208	C	Y208C	Pathogenic/Likely pathogenic	1	1	5	18
MUT:TK2:Tyr99Cys	PROT:O00142	TK2	Y	99	C	Y99C	Likely pathogenic	1	1	5	15
MUT:TKFC:Ala185Thr	PROT:Q3LXA3	TKFC	A	185	T	A185T	Benign	0	1	12	139
MUT:TKFC:Arg543Ile	PROT:Q3LXA3	TKFC	R	543	I	R543I	Likely pathogenic	1	1	12	2
MUT:TKFC:Arg567Trp	PROT:Q3LXA3	TKFC	R	567	W	R567W	Likely benign	0	1	12	19
MUT:TKFC:Gly445Ser	PROT:Q3LXA3	TKFC	G	445	S	G445S	Likely pathogenic	1	1	12	20
MUT:TKT:Arg318Cys	PROT:P29401	TKT	R	318	C	R318C	Pathogenic	1	1	48	1
MUT:TKT:His513Gln	PROT:P29401	TKT	H	513	Q	H513Q	Likely benign	0	1	48	10
MUT:TLL1:Ala695Thr	PROT:O43897	TLL1	A	695	T	A695T	Likely benign	0	1	4	361
MUT:TLL1:Gly23Arg	PROT:O43897	TLL1	G	23	R	G23R	Benign	0	1	4	86
MUT:TLL1:Ile545Val	PROT:O43897	TLL1	I	545	V	I545V	Benign	0	1	4	211
MUT:TLL1:Ile629Val	PROT:O43897	TLL1	I	629	V	I629V	Pathogenic	1	1	4	295
MUT:TLL1:Met182Leu	PROT:O43897	TLL1	M	182	L	M182L	Pathogenic	1	1	4	29
MUT:TLL1:Thr82Met	PROT:O43897	TLL1	T	82	M	T82M	Likely benign	0	1	4	27
MUT:TLL1:Tyr202Cys	PROT:O43897	TLL1	Y	202	C	Y202C	Likely pathogenic	1	1	4	49
MUT:TLNRD1:Lys282Arg	PROT:Q9H1K6	TLNRD1	K	282	R	K282R	Likely benign	0	1	2	46
MUT:TLR4:Asp299Gly	PROT:O00206	TLR4	D	299	G	D299G	Benign	0	4	6	124
MUT:TLR4:Gln510His	PROT:O00206	TLR4	Q	510	H	Q510H	Benign	0	2	6	164
MUT:TLR4:Ile93Val	PROT:O00206	TLR4	I	93	V	I93V	Likely benign	0	1	6	42
MUT:TLR4:Ser73Arg	PROT:O00206	TLR4	S	73	R	S73R	Benign	0	1	6	62
MUT:TLR4:Thr175Ala	PROT:O00206	TLR4	T	175	A	T175A	Likely benign	0	1	6	0
MUT:TLR4:Thr399Ile	PROT:O00206	TLR4	T	399	I	T399I	Benign	0	2	6	224
MUT:TLR5:Ile644Phe	PROT:O60602	TLR5	I	644	F	I644F	Benign/Likely benign	0	9	2	154
MUT:TLR5:Phe616Leu	PROT:O60602	TLR5	F	616	L	F616L	Benign	0	1	2	182
MUT:TLR5:Ser720Arg	PROT:O60602	TLR5	S	720	R	S720R	Likely benign	0	1	2	78
MUT:TM9SF4:Gly471Ser	PROT:Q92544	TM9SF4	G	471	S	G471S	Likely benign	0	1	9	157
MUT:TMEM126A:Arg64His	PROT:Q9H061	TMEM126A	R	64	H	R64H	Benign/Likely benign	0	1	1	2
MUT:TMEM126A:Ser188Thr	PROT:Q9H061	TMEM126A	S	188	T	S188T	Benign/Likely benign	0	2	1	126
MUT:TMEM126A:Ser52Gly	PROT:Q9H061	TMEM126A	S	52	G	S52G	Benign/Likely benign	0	2	1	10
MUT:TMEM126B:Asp133Asn	PROT:Q8IUX1	TMEM126B	D	133	N	D133N	Pathogenic/Likely pathogenic	1	2	2	99
MUT:TMEM126B:Asp62Glu	PROT:Q8IUX1	TMEM126B	D	62	E	D62E	Likely benign	0	1	2	28
MUT:TMEM126B:Gly212Val	PROT:Q8IUX1	TMEM126B	G	212	V	G212V	Pathogenic/Likely pathogenic	1	3	2	178
MUT:TMEM126B:Phe88Leu	PROT:Q8IUX1	TMEM126B	F	88	L	F88L	Likely benign	0	1	2	54
MUT:TMEM126B:Ser42Phe	PROT:Q8IUX1	TMEM126B	S	42	F	S42F	Likely benign	0	1	2	8
MUT:TMEM127:Ala22Ser	PROT:O75204	TMEM127	A	22	S	A22S	Likely benign	0	1	3	3
MUT:TMEM127:Asp70Asn	PROT:O75204	TMEM127	D	70	N	D70N	Benign/Likely benign	0	4	3	45
MUT:TMEM127:Asp82Asn	PROT:O75204	TMEM127	D	82	N	D82N	Likely pathogenic	1	1	3	57
MUT:TMEM127:Cys140Arg	PROT:O75204	TMEM127	C	140	R	C140R	Likely pathogenic	1	1	3	115
MUT:TMEM127:Met1Arg	PROT:O75204	TMEM127	M	1	R	M1R	Pathogenic/Likely pathogenic	1	2	3	0
MUT:TMEM127:Met1Ile	PROT:O75204	TMEM127	M	1	I	M1I	Pathogenic/Likely pathogenic	1	3	3	0
MUT:TMEM127:Met1Leu	PROT:O75204	TMEM127	M	1	L	M1L	Pathogenic	1	2	3	0
MUT:TMEM127:Met1Lys	PROT:O75204	TMEM127	M	1	K	M1K	Pathogenic	1	2	3	0
MUT:TMEM127:Met1Thr	PROT:O75204	TMEM127	M	1	T	M1T	Pathogenic	1	3	3	0
MUT:TMEM127:Val90Met	PROT:O75204	TMEM127	V	90	M	V90M	Benign/Likely benign	0	4	3	65
MUT:TMEM132D:Ala367Pro	PROT:Q14C87	TMEM132D	A	367	P	A367P	Likely benign	0	1	3	26
MUT:TMEM132D:Gly162Arg	PROT:Q14C87	TMEM132D	G	162	R	G162R	Likely benign	0	1	3	34
MUT:TMEM132D:Leu878Phe	PROT:Q14C87	TMEM132D	L	878	F	L878F	Benign	0	1	3	88
MUT:TMEM132D:Leu90Gln	PROT:Q14C87	TMEM132D	L	90	Q	L90Q	Benign	0	1	3	38
MUT:TMEM132D:Thr886Asn	PROT:Q14C87	TMEM132D	T	886	N	T886N	Benign	0	1	3	96
MUT:TMEM132D:Val767Ile	PROT:Q14C87	TMEM132D	V	767	I	V767I	Benign	0	1	3	23
MUT:TMEM132E:Arg767Gln	PROT:Q6IEE7	TMEM132E	R	767	Q	R767Q	Likely benign	0	1	1	238
MUT:TMEM132E:Glu86Ala	PROT:Q6IEE7	TMEM132E	E	86	A	E86A	Benign/Likely benign	0	1	1	919
MUT:TMEM132E:Glu86Gln	PROT:Q6IEE7	TMEM132E	E	86	Q	E86Q	Likely benign	0	1	1	919
MUT:TMEM132E:Gly157Ala	PROT:Q6IEE7	TMEM132E	G	157	A	G157A	Likely benign	0	1	1	848
MUT:TMEM132E:Pro852Leu	PROT:Q6IEE7	TMEM132E	P	852	L	P852L	Likely benign	0	1	1	153
MUT:TMEM132E:Ser321Leu	PROT:Q6IEE7	TMEM132E	S	321	L	S321L	Likely benign	0	1	1	684
MUT:TMEM138:Ala126Thr	PROT:Q9NPI0	TMEM138	A	126	T	A126T	Pathogenic	1	1	2	24
MUT:TMEM138:Ala127Val	PROT:Q9NPI0	TMEM138	A	127	V	A127V	Pathogenic/Likely pathogenic	1	1	2	23
MUT:TMEM138:Gln45Arg	PROT:Q9NPI0	TMEM138	Q	45	R	Q45R	Likely pathogenic	1	1	2	105
MUT:TMEM138:His96Arg	PROT:Q9NPI0	TMEM138	H	96	R	H96R	Pathogenic/Likely pathogenic	1	1	2	54
MUT:TMEM139:Arg82Gln	PROT:Q8IV31	TMEM139	R	82	Q	R82Q	Likely benign	0	5	1	73
MUT:TMEM163:Arg138Cys	PROT:Q8TC26	TMEM163	R	138	C	R138C	Pathogenic	1	1	5	61
MUT:TMEM163:His146Arg	PROT:Q8TC26	TMEM163	H	146	R	H146R	Pathogenic	1	1	5	69
MUT:TMEM163:Leu76Arg	PROT:Q8TC26	TMEM163	L	76	R	L76R	Pathogenic	1	1	5	1
MUT:TMEM163:Leu76Pro	PROT:Q8TC26	TMEM163	L	76	P	L76P	Pathogenic/Likely pathogenic	1	1	5	1
MUT:TMEM165:Arg126His	PROT:Q9HC07	TMEM165	R	126	H	R126H	Pathogenic	1	1	5	54
MUT:TMEM165:Gly304Arg	PROT:Q9HC07	TMEM165	G	304	R	G304R	Pathogenic	1	1	5	51
MUT:TMEM176A:Arg41Gln	PROT:Q96HP8	TMEM176A	R	41	Q	R41Q	Likely benign	0	1	1	3
MUT:TMEM18:Ala72Val	PROT:Q96B42	TMEM18	A	72	V	A72V	Likely benign	0	7	1	10
MUT:TMEM19:Leu105Met	PROT:Q96HH6	TMEM19	L	105	M	L105M	Benign	0	2	1	21
MUT:TMEM38B:Ala183Ser	PROT:Q9NVV0	TMEM38B	A	183	S	A183S	Likely benign	0	1	7	13
MUT:TMEM38B:Cys254Ser	PROT:Q9NVV0	TMEM38B	C	254	S	C254S	Benign	0	1	7	8
MUT:TMEM38B:Val165Leu	PROT:Q9NVV0	TMEM38B	V	165	L	V165L	Benign	0	1	7	1
MUT:TMEM43:Ala318Val	PROT:Q9BTV4	TMEM43	A	318	V	A318V	Benign/Likely benign	0	3	14	26
MUT:TMEM43:Ala366Thr	PROT:Q9BTV4	TMEM43	A	366	T	A366T	Benign	0	2	14	74
MUT:TMEM43:Arg28Trp	PROT:Q9BTV4	TMEM43	R	28	W	R28W	Benign/Likely benign	0	3	14	8
MUT:TMEM43:Arg299Thr	PROT:Q9BTV4	TMEM43	R	299	T	R299T	Benign/Likely benign	0	3	14	7
MUT:TMEM43:Arg312Trp	PROT:Q9BTV4	TMEM43	R	312	W	R312W	Benign/Likely benign	0	2	14	20
MUT:TMEM43:Cys354Ser	PROT:Q9BTV4	TMEM43	C	354	S	C354S	Likely benign	0	2	14	62
MUT:TMEM43:Leu369Phe	PROT:Q9BTV4	TMEM43	L	369	F	L369F	Benign/Likely benign	0	2	14	77
MUT:TMEM43:Lys168Asn	PROT:Q9BTV4	TMEM43	K	168	N	K168N	Benign	0	3	14	9
MUT:TMEM43:Met179Thr	PROT:Q9BTV4	TMEM43	M	179	T	M179T	Benign	0	3	14	20
MUT:TMEM43:Pro231Leu	PROT:Q9BTV4	TMEM43	P	231	L	P231L	Benign/Likely benign	0	2	14	1
MUT:TMEM43:Ser30Asn	PROT:Q9BTV4	TMEM43	S	30	N	S30N	Benign/Likely benign	0	3	14	10
MUT:TMEM43:Ser358Leu	PROT:Q9BTV4	TMEM43	S	358	L	S358L	Pathogenic	1	6	14	66
MUT:TMEM43:Ser9Gly	PROT:Q9BTV4	TMEM43	S	9	G	S9G	Likely benign	0	2	14	7
MUT:TMEM43:Thr277Ser	PROT:Q9BTV4	TMEM43	T	277	S	T277S	Benign/Likely benign	0	3	14	1
MUT:TMEM43:Tyr233Cys	PROT:Q9BTV4	TMEM43	Y	233	C	Y233C	Benign	0	3	14	1
MUT:TMEM63B:Arg660Thr	PROT:Q5T3F8	TMEM63B	R	660	T	R660T	Pathogenic	1	1	3	86
MUT:TMEM63B:Asp137Gly	PROT:Q5T3F8	TMEM63B	D	137	G	D137G	Likely benign	0	1	3	160
MUT:TMEM63B:Asp142Tyr	PROT:Q5T3F8	TMEM63B	D	142	Y	D142Y	Likely benign	0	1	3	155
MUT:TMEM63B:Gly580Ser	PROT:Q5T3F8	TMEM63B	G	580	S	G580S	Pathogenic/Likely pathogenic	1	1	3	32
MUT:TMEM63B:Pro759His	PROT:Q5T3F8	TMEM63B	P	759	H	P759H	Likely benign	0	1	3	13
MUT:TMEM63B:Thr481Asn	PROT:Q5T3F8	TMEM63B	T	481	N	T481N	Pathogenic	1	1	3	67
MUT:TMEM63B:Val440Ile	PROT:Q5T3F8	TMEM63B	V	440	I	V440I	Likely benign	0	1	3	108
MUT:TMEM63B:Val44Met	PROT:Q5T3F8	TMEM63B	V	44	M	V44M	Pathogenic/Likely pathogenic	1	3	3	253
MUT:TMEM94:Ala620Thr	PROT:Q12767	TMEM94	A	620	T	A620T	Likely benign	0	1	17	24
MUT:TMEM94:Ala794Thr	PROT:Q12767	TMEM94	A	794	T	A794T	Likely benign	0	1	17	3
MUT:TMEM94:Arg122Leu	PROT:Q12767	TMEM94	R	122	L	R122L	Likely benign	0	1	17	99
MUT:TMEM94:Arg41Leu	PROT:Q12767	TMEM94	R	41	L	R41L	Likely benign	0	1	17	180
MUT:TMEM94:Arg486His	PROT:Q12767	TMEM94	R	486	H	R486H	Likely benign	0	1	17	29
MUT:TMEM94:Arg795His	PROT:Q12767	TMEM94	R	795	H	R795H	Likely benign	0	2	17	2
MUT:TMEM94:Arg92His	PROT:Q12767	TMEM94	R	92	H	R92H	Likely benign	0	1	17	129
MUT:TMEM94:Asn1214Lys	PROT:Q12767	TMEM94	N	1214	K	N1214K	Likely benign	0	1	17	55
MUT:TMEM94:Asn482Ser	PROT:Q12767	TMEM94	N	482	S	N482S	Benign	0	6	17	25
MUT:TMEM94:Asp451Asn	PROT:Q12767	TMEM94	D	451	N	D451N	Likely benign	0	1	17	3
MUT:TMEM94:Gly85Arg	PROT:Q12767	TMEM94	G	85	R	G85R	Benign	0	1	17	136
MUT:TMEM94:Ser1231Leu	PROT:Q12767	TMEM94	S	1231	L	S1231L	Likely benign	0	1	17	72
MUT:TMEM94:Ser531Gly	PROT:Q12767	TMEM94	S	531	G	S531G	Likely benign	0	1	17	74
MUT:TMEM94:Val1209Phe	PROT:Q12767	TMEM94	V	1209	F	V1209F	Likely benign	0	1	17	50
MUT:TMLHE:Arg93Cys	PROT:Q9NVH6	TMLHE	R	93	C	R93C	Likely pathogenic	1	1	5	42
MUT:TMLHE:Thr235Asn	PROT:Q9NVH6	TMLHE	T	235	N	T235N	Likely benign	0	1	5	1
MUT:TMTC2:Gln347His	PROT:Q8N394	TMTC2	Q	347	H	Q347H	Likely benign	0	1	1	78
MUT:TMTC2:Lys303Arg	PROT:Q8N394	TMTC2	K	303	R	K303R	Likely benign	0	1	1	122
MUT:TMTC3:Asp317Gly	PROT:Q6ZXV5	TMTC3	D	317	G	D317G	Likely pathogenic	1	1	1	186
MUT:TMTC3:Glu880Lys	PROT:Q6ZXV5	TMTC3	E	880	K	E880K	Likely benign	0	1	1	377
MUT:TMTC3:Gly851Asp	PROT:Q6ZXV5	TMTC3	G	851	D	G851D	Likely benign	0	1	1	348
MUT:TMTC3:His67Asp	PROT:Q6ZXV5	TMTC3	H	67	D	H67D	Likely pathogenic	1	1	1	436
MUT:TMTC3:Ile132Val	PROT:Q6ZXV5	TMTC3	I	132	V	I132V	Likely benign	0	1	1	371
MUT:TMTC3:Ile745Val	PROT:Q6ZXV5	TMTC3	I	745	V	I745V	Likely benign	0	1	1	242
MUT:TMTC3:Ile827Val	PROT:Q6ZXV5	TMTC3	I	827	V	I827V	Likely benign	0	1	1	324
MUT:TMTC3:Lys112Arg	PROT:Q6ZXV5	TMTC3	K	112	R	K112R	Benign	0	1	1	391
MUT:TMTC3:Met1Ile	PROT:Q6ZXV5	TMTC3	M	1	I	M1I	Pathogenic	1	1	1	502
MUT:TMTC3:Met505Ile	PROT:Q6ZXV5	TMTC3	M	505	I	M505I	Benign	0	1	1	2
MUT:TMTC3:Val181Met	PROT:Q6ZXV5	TMTC3	V	181	M	V181M	Benign	0	1	1	322
MUT:TMTC3:Val859Ile	PROT:Q6ZXV5	TMTC3	V	859	I	V859I	Benign	0	1	1	356
MUT:TMTC4:Ala192Val	PROT:Q5T4D3	TMTC4	A	192	V	A192V	Pathogenic	1	1	2	107
MUT:TMTC4:Glu183Lys	PROT:Q5T4D3	TMTC4	E	183	K	E183K	Pathogenic	1	1	2	116
MUT:TMX3:Thr207Ala	PROT:Q96JJ7	TMX3	T	207	A	T207A	Likely benign	0	1	8	60
MUT:TMX3:Val309Ile	PROT:Q96JJ7	TMX3	V	309	I	V309I	Likely benign	0	1	8	41
MUT:TNF:Arg108Trp	PROT:P01375	TNF	R	108	W	R108W	Pathogenic	1	1	1	106
MUT:TNFRSF11A:Ala192Val	PROT:Q9Y6Q6	TNFRSF11A	A	192	V	A192V	Benign/Likely benign	0	1	1	271
MUT:TNFRSF11A:Ala244Ser	PROT:Q9Y6Q6	TNFRSF11A	A	244	S	A244S	Pathogenic	1	1	1	219
MUT:TNFRSF11A:Arg170Gly	PROT:Q9Y6Q6	TNFRSF11A	R	170	G	R170G	Pathogenic	1	1	1	293
MUT:TNFRSF11A:Arg450Trp	PROT:Q9Y6Q6	TNFRSF11A	R	450	W	R450W	Benign/Likely benign	0	3	1	13
MUT:TNFRSF11A:Arg466His	PROT:Q9Y6Q6	TNFRSF11A	R	466	H	R466H	Benign/Likely benign	0	2	1	3
MUT:TNFRSF11A:Asp148Val	PROT:Q9Y6Q6	TNFRSF11A	D	148	V	D148V	Likely pathogenic	1	1	1	315
MUT:TNFRSF11A:Cys127Tyr	PROT:Q9Y6Q6	TNFRSF11A	C	127	Y	C127Y	Likely pathogenic	1	1	1	336
MUT:TNFRSF11A:Cys175Arg	PROT:Q9Y6Q6	TNFRSF11A	C	175	R	C175R	Pathogenic	1	1	1	288
MUT:TNFRSF11A:Gly53Arg	PROT:Q9Y6Q6	TNFRSF11A	G	53	R	G53R	Pathogenic	1	1	1	410
MUT:TNFRSF11A:His141Tyr	PROT:Q9Y6Q6	TNFRSF11A	H	141	Y	H141Y	Benign/Likely benign	0	1	1	322
MUT:TNFRSF11A:Ile335Thr	PROT:Q9Y6Q6	TNFRSF11A	I	335	T	I335T	Likely benign	0	1	1	128
MUT:TNFRSF11A:Lys49Asn	PROT:Q9Y6Q6	TNFRSF11A	K	49	N	K49N	Likely pathogenic	1	1	1	414
MUT:TNFRSF11A:Met1Ile	PROT:Q9Y6Q6	TNFRSF11A	M	1	I	M1I	Likely pathogenic	1	1	1	462
MUT:TNFRSF11A:Val209Ile	PROT:Q9Y6Q6	TNFRSF11A	V	209	I	V209I	Benign	0	2	1	254
MUT:TNFRSF13B:Arg198Pro	PROT:O14836	TNFRSF13B	R	198	P	R198P	Likely benign	0	1	1	9
MUT:TNFRSF13B:Arg72His	PROT:O14836	TNFRSF13B	R	72	H	R72H	Likely benign	0	1	1	135
MUT:TNFRSF13B:Cys104Tyr	PROT:O14836	TNFRSF13B	C	104	Y	C104Y	Pathogenic/Likely pathogenic	1	3	1	103
MUT:TNFRSF13B:Gly76Ser	PROT:O14836	TNFRSF13B	G	76	S	G76S	Likely benign	0	1	1	131
MUT:TNFRSF13B:Lys188Met	PROT:O14836	TNFRSF13B	K	188	M	K188M	Benign/Likely benign	0	1	1	19
MUT:TNFRSF13B:Pro251Leu	PROT:O14836	TNFRSF13B	P	251	L	P251L	Benign	0	1	1	44
MUT:TNFRSF13B:Ser133Leu	PROT:O14836	TNFRSF13B	S	133	L	S133L	Likely benign	0	1	1	74
MUT:TNFRSF13B:Ser144Leu	PROT:O14836	TNFRSF13B	S	144	L	S144L	Likely benign	0	1	1	63
MUT:TNFRSF13B:Val220Ala	PROT:O14836	TNFRSF13B	V	220	A	V220A	Benign/Likely benign	0	1	1	13
MUT:TNFRSF9:Arg215Gln	PROT:Q07011	TNFRSF9	R	215	Q	R215Q	Likely benign	0	1	2	4
MUT:TNFRSF9:Lys115Asn	PROT:Q07011	TNFRSF9	K	115	N	K115N	Likely benign	0	1	2	104
MUT:TNIK:Ala999Thr	PROT:Q9UKE5	TNIK	A	999	T	A999T	Benign	0	1	48	14
MUT:TNIK:Glu907Ala	PROT:Q9UKE5	TNIK	E	907	A	E907A	Likely benign	0	8	48	5
MUT:TNK2:Ala581Pro	PROT:Q07912	TNK2	A	581	P	A581P	Benign	0	1	34	54
MUT:TNK2:Arg256Cys	PROT:Q07912	TNK2	R	256	C	R256C	Benign	0	1	34	28
MUT:TNK2:Arg352Trp	PROT:Q07912	TNK2	R	352	W	R352W	Pathogenic	1	1	34	68
MUT:TNK2:Arg693Gln	PROT:Q07912	TNK2	R	693	Q	R693Q	Benign	0	1	34	31
MUT:TNK2:Leu510Val	PROT:Q07912	TNK2	L	510	V	L510V	Benign/Likely benign	0	10	34	65
MUT:TNK2:Leu604Gln	PROT:Q07912	TNK2	L	604	Q	L604Q	Likely benign	0	1	34	31
MUT:TNK2:Ser102Leu	PROT:Q07912	TNK2	S	102	L	S102L	Likely benign	0	1	34	0
MUT:TNNC1:Ala31Ser	PROT:P63316	TNNC1	A	31	S	A31S	Pathogenic	1	1	6	14
MUT:TNNC1:Ala8Val	PROT:P63316	TNNC1	A	8	V	A8V	Pathogenic/Likely pathogenic	1	4	6	2
MUT:TNNC1:Glu152Lys	PROT:P63316	TNNC1	E	152	K	E152K	Pathogenic	1	1	6	46
MUT:TNNC1:Gly159Asp	PROT:P63316	TNNC1	G	159	D	G159D	Likely pathogenic	1	1	6	53
MUT:TNNC1:Gly34Arg	PROT:P63316	TNNC1	G	34	R	G34R	Pathogenic	1	1	6	17
MUT:TNNC1:Ile4Met	PROT:P63316	TNNC1	I	4	M	I4M	Pathogenic	1	1	6	2
MUT:TNNI2:Arg162Ser	PROT:P48788	TNNI2	R	162	S	R162S	Likely pathogenic	1	1	6	18
MUT:TNNI2:Arg174Gln	PROT:P48788	TNNI2	R	174	Q	R174Q	Pathogenic	1	1	6	6
MUT:TNNI2:Arg174Trp	PROT:P48788	TNNI2	R	174	W	R174W	Likely pathogenic	1	1	6	6
MUT:TNNI2:Ile165Phe	PROT:P48788	TNNI2	I	165	F	I165F	Pathogenic	1	1	6	15
MUT:TNNI2:Lys175Asn	PROT:P48788	TNNI2	K	175	N	K175N	Pathogenic/Likely pathogenic	1	1	6	5
MUT:TNNT1:Ala242Pro	PROT:P13805	TNNT1	A	242	P	A242P	Pathogenic	1	1	3	13
MUT:TNNT1:Asp65Ala	PROT:P13805	TNNT1	D	65	A	D65A	Pathogenic	1	1	3	26
MUT:TNNT1:Glu11Lys	PROT:P13805	TNNT1	E	11	K	E11K	Benign	0	1	3	80
MUT:TNNT1:Glu12Gly	PROT:P13805	TNNT1	E	12	G	E12G	Benign/Likely benign	0	1	3	79
MUT:TNNT1:Glu16Gln	PROT:P13805	TNNT1	E	16	Q	E16Q	Likely benign	0	1	3	75
MUT:TNNT1:Leu96Pro	PROT:P13805	TNNT1	L	96	P	L96P	Pathogenic/Likely pathogenic	1	2	3	5
MUT:TNNT1:Met1Val	PROT:P13805	TNNT1	M	1	V	M1V	Likely pathogenic	1	1	3	90
MUT:TNNT2:Arg102Gln	PROT:P45379	TNNT2	R	102	Q	R102Q	Pathogenic/Likely pathogenic	1	4	17	5
MUT:TNNT2:Arg102Trp	PROT:P45379	TNNT2	R	102	W	R102W	Pathogenic/Likely pathogenic	1	7	17	5
MUT:TNNT2:Arg104Cys	PROT:P45379	TNNT2	R	104	C	R104C	Pathogenic/Likely pathogenic	1	5	17	3
MUT:TNNT2:Arg104His	PROT:P45379	TNNT2	R	104	H	R104H	Likely pathogenic	1	4	17	3
MUT:TNNT2:Arg104Leu	PROT:P45379	TNNT2	R	104	L	R104L	Pathogenic/Likely pathogenic	1	5	17	3
MUT:TNNT2:Arg104Ser	PROT:P45379	TNNT2	R	104	S	R104S	Pathogenic	1	1	17	3
MUT:TNNT2:Arg140Cys	PROT:P45379	TNNT2	R	140	C	R140C	Pathogenic/Likely pathogenic	1	6	17	33
MUT:TNNT2:Arg141Gln	PROT:P45379	TNNT2	R	141	Q	R141Q	Pathogenic	1	5	17	34
MUT:TNNT2:Arg141Pro	PROT:P45379	TNNT2	R	141	P	R141P	Likely pathogenic	1	4	17	34
MUT:TNNT2:Arg141Trp	PROT:P45379	TNNT2	R	141	W	R141W	Pathogenic/Likely pathogenic	1	5	17	34
MUT:TNNT2:Arg144Gly	PROT:P45379	TNNT2	R	144	G	R144G	Pathogenic/Likely pathogenic	1	4	17	37
MUT:TNNT2:Arg151Trp	PROT:P45379	TNNT2	R	151	W	R151W	Pathogenic/Likely pathogenic	1	6	17	35
MUT:TNNT2:Arg183Gln	PROT:P45379	TNNT2	R	183	Q	R183Q	Pathogenic/Likely pathogenic	1	4	17	3
MUT:TNNT2:Arg183Leu	PROT:P45379	TNNT2	R	183	L	R183L	Pathogenic	1	1	17	3
MUT:TNNT2:Arg183Trp	PROT:P45379	TNNT2	R	183	W	R183W	Pathogenic	1	5	17	3
MUT:TNNT2:Arg215Leu	PROT:P45379	TNNT2	R	215	L	R215L	Pathogenic	1	1	17	2
MUT:TNNT2:Arg288Cys	PROT:P45379	TNNT2	R	288	C	R288C	Likely benign	0	6	17	2
MUT:TNNT2:Asn279Lys	PROT:P45379	TNNT2	N	279	K	N279K	Likely pathogenic	1	1	17	4
MUT:TNNT2:Asp96Ala	PROT:P45379	TNNT2	D	96	A	D96A	Pathogenic/Likely pathogenic	1	4	17	8
MUT:TNNT2:Asp98Glu	PROT:P45379	TNNT2	D	98	E	D98E	Pathogenic/Likely pathogenic	1	1	17	9
MUT:TNNT2:Glu128Lys	PROT:P45379	TNNT2	E	128	K	E128K	Likely pathogenic	1	1	17	21
MUT:TNNT2:Glu129Gln	PROT:P45379	TNNT2	E	129	Q	E129Q	Likely pathogenic	1	1	17	22
MUT:TNNT2:Gly92Arg	PROT:P45379	TNNT2	G	92	R	G92R	Pathogenic/Likely pathogenic	1	4	17	4
MUT:TNNT2:Gly92Glu	PROT:P45379	TNNT2	G	92	E	G92E	Likely pathogenic	1	1	17	4
MUT:TNNT2:Ile100Asn	PROT:P45379	TNNT2	I	100	N	I100N	Likely pathogenic	1	1	17	7
MUT:TNNT2:Ile221Thr	PROT:P45379	TNNT2	I	221	T	I221T	Likely pathogenic	1	1	17	8
MUT:TNNT2:Ile89Asn	PROT:P45379	TNNT2	I	89	N	I89N	Pathogenic	1	5	17	1
MUT:TNNT2:Lys210Asn	PROT:P45379	TNNT2	K	210	N	K210N	Likely pathogenic	1	1	17	2
MUT:TNNT2:Lys218Glu	PROT:P45379	TNNT2	K	218	E	K218E	Likely pathogenic	1	1	17	5
MUT:TNNT2:Lys263Arg	PROT:P45379	TNNT2	K	263	R	K263R	Benign/Likely benign	0	5	17	6
MUT:TNNT2:Lys283Glu	PROT:P45379	TNNT2	K	283	E	K283E	Pathogenic	1	1	17	0
MUT:TNNT2:Phe120Ile	PROT:P45379	TNNT2	F	120	I	F120I	Pathogenic	1	5	17	13
MUT:TNNT2:Phe120Leu	PROT:P45379	TNNT2	F	120	L	F120L	Pathogenic/Likely pathogenic	1	6	17	13
MUT:TNNT2:Ser189Phe	PROT:P45379	TNNT2	S	189	F	S189F	Pathogenic/Likely pathogenic	1	4	17	0
MUT:TNNT2:Val95Met	PROT:P45379	TNNT2	V	95	M	V95M	Likely pathogenic	1	2	17	7
MUT:TNPO1:Pro306Ser	PROT:Q92973	TNPO1	P	306	S	P306S	Benign	0	1	12	21
MUT:TNR:Ala397Thr	PROT:Q92752	TNR	A	397	T	A397T	Likely pathogenic	1	2	7	3
MUT:TNR:Arg1007Gln	PROT:Q92752	TNR	R	1007	Q	R1007Q	Likely benign	0	1	7	283
MUT:TNR:Arg1192Trp	PROT:Q92752	TNR	R	1192	W	R1192W	Pathogenic	1	2	7	468
MUT:TNR:Arg1243Lys	PROT:Q92752	TNR	R	1243	K	R1243K	Likely benign	0	1	7	519
MUT:TNR:Arg551Gln	PROT:Q92752	TNR	R	551	Q	R551Q	Likely benign	0	1	7	151
MUT:TNR:Asn1251Ser	PROT:Q92752	TNR	N	1251	S	N1251S	Likely benign	0	1	7	527
MUT:TNR:Asp532Asn	PROT:Q92752	TNR	D	532	N	D532N	Likely pathogenic	1	2	7	132
MUT:TNR:Ile1257Leu	PROT:Q92752	TNR	I	1257	L	I1257L	Likely benign	0	1	7	533
MUT:TNR:Ile960Thr	PROT:Q92752	TNR	I	960	T	I960T	Likely benign	0	1	7	236
MUT:TNR:Met102Ile	PROT:Q92752	TNR	M	102	I	M102I	Likely benign	0	1	7	44
MUT:TNR:Pro647Ala	PROT:Q92752	TNR	P	647	A	P647A	Likely benign	0	1	7	74
MUT:TNR:Thr1306Pro	PROT:Q92752	TNR	T	1306	P	T1306P	Pathogenic	1	1	7	582
MUT:TNR:Thr921Ala	PROT:Q92752	TNR	T	921	A	T921A	Likely benign	0	1	7	197
MUT:TNR:Val1072Ile	PROT:Q92752	TNR	V	1072	I	V1072I	Likely benign	0	1	7	348
MUT:TNR:Val669Ile	PROT:Q92752	TNR	V	669	I	V669I	Likely benign	0	1	7	52
MUT:TNRC18:Ala1267Gly	PROT:O15417	TNRC18	A	1267	G	A1267G	Benign	0	1	47	17
MUT:TNRC18:Ala300Val	PROT:O15417	TNRC18	A	300	V	A300V	Likely benign	0	2	47	134
MUT:TNRC18:Gly2029Val	PROT:O15417	TNRC18	G	2029	V	G2029V	Benign	0	2	47	101
MUT:TOGARAM1:Arg1311Cys	PROT:Q9Y4F4	TOGARAM1	R	1311	C	R1311C	Pathogenic	1	2	8	1
MUT:TOGARAM1:Arg368Trp	PROT:Q9Y4F4	TOGARAM1	R	368	W	R368W	Pathogenic	1	2	8	2
MUT:TOM1:Gly307Asp	PROT:O60784	TOM1	G	307	D	G307D	Pathogenic	1	1	18	4
MUT:TOP1:Glu418Lys	PROT:P11387	TOP1	E	418	K	E418K	Pathogenic	1	1	42	14
MUT:TOP3A:Ala805Thr	PROT:Q13472	TOP3A	A	805	T	A805T	Likely benign	0	1	11	45
MUT:TOP3A:Arg405Cys	PROT:Q13472	TOP3A	R	405	C	R405C	Benign	0	1	11	60
MUT:TOP3A:Asn170Ser	PROT:Q13472	TOP3A	N	170	S	N170S	Likely benign	0	1	11	40
MUT:TOP3A:Asp205Gly	PROT:Q13472	TOP3A	D	205	G	D205G	Pathogenic	1	1	11	52
MUT:TOP3A:Glu629Lys	PROT:Q13472	TOP3A	E	629	K	E629K	Benign/Likely benign	0	1	11	72
MUT:TOP3A:Leu584Arg	PROT:Q13472	TOP3A	L	584	R	L584R	Likely benign	0	1	11	27
MUT:TOP3A:Met100Val	PROT:Q13472	TOP3A	M	100	V	M100V	Pathogenic	1	2	11	30
MUT:TOP3A:Pro4Leu	PROT:Q13472	TOP3A	P	4	L	P4L	Benign	0	1	11	43
MUT:TOP3B:Arg379Trp	PROT:O95985	TOP3B	R	379	W	R379W	Likely benign	0	1	6	181
MUT:TOP3B:Arg472Gln	PROT:O95985	TOP3B	R	472	Q	R472Q	Likely benign	0	1	6	94
MUT:TOP3B:Asp365Asn	PROT:O95985	TOP3B	D	365	N	D365N	Benign	0	1	6	167
MUT:TOP3B:His382Arg	PROT:O95985	TOP3B	H	382	R	H382R	Benign	0	1	6	184
MUT:TOP3B:Thr528Met	PROT:O95985	TOP3B	T	528	M	T528M	Likely benign	0	1	6	38
MUT:TOPAZ1:Asn628Ser	PROT:Q8N9V7	TOPAZ1	N	628	S	N628S	Likely benign	0	1	3	124
MUT:TOPBP1:Ala1003Thr	PROT:Q92547	TOPBP1	A	1003	T	A1003T	Benign	0	1	37	1
MUT:TOPBP1:Ala1458Ser	PROT:Q92547	TOPBP1	A	1458	S	A1458S	Benign	0	1	37	13
MUT:TOPBP1:Arg1013Gln	PROT:Q92547	TOPBP1	R	1013	Q	R1013Q	Benign	0	1	37	1
MUT:TOPBP1:Arg309Cys	PROT:Q92547	TOPBP1	R	309	C	R309C	Benign	0	1	37	8
MUT:TOPBP1:Asn1042Ser	PROT:Q92547	TOPBP1	N	1042	S	N1042S	Benign	0	1	37	16
MUT:TOPBP1:Ser817Leu	PROT:Q92547	TOPBP1	S	817	L	S817L	Benign	0	1	37	28
MUT:TOR1A:Ala163Val	PROT:O14656	TOR1A	A	163	V	A163V	Benign/Likely benign	0	2	2	87
MUT:TOR1A:Asp216His	PROT:O14656	TOR1A	D	216	H	D216H	Benign	0	2	2	93
MUT:TOR1A:Asp235Val	PROT:O14656	TOR1A	D	235	V	D235V	Likely benign	0	1	2	74
MUT:TOR1A:Gln19Arg	PROT:O14656	TOR1A	Q	19	R	Q19R	Likely benign	0	1	2	57
MUT:TOR1A:Gly318Ser	PROT:O14656	TOR1A	G	318	S	G318S	Pathogenic	1	1	2	9
MUT:TOR1A:Gly9Ala	PROT:O14656	TOR1A	G	9	A	G9A	Benign/Likely benign	0	2	2	67
MUT:TOR1A:Lys320Glu	PROT:O14656	TOR1A	K	320	E	K320E	Pathogenic	1	1	2	11
MUT:TOR1AIP1:Ala476Val	PROT:Q5JTV8	TOR1AIP1	A	476	V	A476V	Likely pathogenic	1	1	54	10
MUT:TOR1AIP1:Asp383Asn	PROT:Q5JTV8	TOR1AIP1	D	383	N	D383N	Likely benign	0	2	54	2
MUT:TOR1AIP1:Gln293His	PROT:Q5JTV8	TOR1AIP1	Q	293	H	Q293H	Benign	0	1	54	1
MUT:TOR1AIP1:Met146Thr	PROT:Q5JTV8	TOR1AIP1	M	146	T	M146T	Benign	0	1	54	1
MUT:TOR1AIP1:Pro276Arg	PROT:Q5JTV8	TOR1AIP1	P	276	R	P276R	Benign	0	1	54	1
MUT:TOR1AIP1:Pro49Leu	PROT:Q5JTV8	TOR1AIP1	P	49	L	P49L	Likely benign	0	1	54	1
MUT:TOR1AIP1:Ser143Phe	PROT:Q5JTV8	TOR1AIP1	S	143	F	S143F	Benign	0	1	54	0
MUT:TOX2:Met141Val	PROT:Q96NM4	TOX2	M	141	V	M141V	Likely benign	0	7	3	58
MUT:TP53:Ala129Asp	PROT:P04637	TP53	A	129	D	A129D	Benign	0	1	79	3
MUT:TP53:Ala138Pro	PROT:P04637	TP53	A	138	P	A138P	Likely pathogenic	1	3	79	1
MUT:TP53:Ala138Val	PROT:P04637	TP53	A	138	V	A138V	Likely pathogenic	1	8	79	1
MUT:TP53:Ala159Asp	PROT:P04637	TP53	A	159	D	A159D	Pathogenic/Likely pathogenic	1	4	79	4
MUT:TP53:Ala159Val	PROT:P04637	TP53	A	159	V	A159V	Pathogenic/Likely pathogenic	1	6	79	4
MUT:TP53:Ala161Thr	PROT:P04637	TP53	A	161	T	A161T	Pathogenic/Likely pathogenic	1	6	79	3
MUT:TP53:Ala276Gly	PROT:P04637	TP53	A	276	G	A276G	Pathogenic/Likely pathogenic	1	2	79	7
MUT:TP53:Ala307Gly	PROT:P04637	TP53	A	307	G	A307G	Likely benign	0	1	79	2
MUT:TP53:Ala347Asp	PROT:P04637	TP53	A	347	D	A347D	Pathogenic	1	3	79	4
MUT:TP53:Ala347Gly	PROT:P04637	TP53	A	347	G	A347G	Likely benign	0	1	79	4
MUT:TP53:Ala355Thr	PROT:P04637	TP53	A	355	T	A355T	Likely benign	0	1	79	2
MUT:TP53:Ala63Gly	PROT:P04637	TP53	A	63	G	A63G	Likely benign	0	2	79	8
MUT:TP53:Ala63Thr	PROT:P04637	TP53	A	63	T	A63T	Likely benign	0	1	79	8
MUT:TP53:Ala63Val	PROT:P04637	TP53	A	63	V	A63V	Benign	0	3	79	8
MUT:TP53:Ala74Val	PROT:P04637	TP53	A	74	V	A74V	Likely benign	0	2	79	7
MUT:TP53:Ala76Gly	PROT:P04637	TP53	A	76	G	A76G	Benign	0	1	79	5
MUT:TP53:Ala79Val	PROT:P04637	TP53	A	79	V	A79V	Likely benign	0	1	79	2
MUT:TP53:Ala83Pro	PROT:P04637	TP53	A	83	P	A83P	Likely benign	0	1	79	2
MUT:TP53:Ala84Thr	PROT:P04637	TP53	A	84	T	A84T	Likely benign	0	3	79	3
MUT:TP53:Arg110Gly	PROT:P04637	TP53	R	110	G	R110G	Likely pathogenic	1	2	79	4
MUT:TP53:Arg110His	PROT:P04637	TP53	R	110	H	R110H	Likely benign	0	5	79	4
MUT:TP53:Arg110Leu	PROT:P04637	TP53	R	110	L	R110L	Pathogenic	1	7	79	4
MUT:TP53:Arg110Pro	PROT:P04637	TP53	R	110	P	R110P	Pathogenic	1	8	79	4
MUT:TP53:Arg156Pro	PROT:P04637	TP53	R	156	P	R156P	Pathogenic/Likely pathogenic	1	4	79	1
MUT:TP53:Arg158Gly	PROT:P04637	TP53	R	158	G	R158G	Pathogenic	1	4	79	3
MUT:TP53:Arg158His	PROT:P04637	TP53	R	158	H	R158H	Pathogenic/Likely pathogenic	1	8	79	3
MUT:TP53:Arg158Leu	PROT:P04637	TP53	R	158	L	R158L	Pathogenic	1	4	79	3
MUT:TP53:Arg158Pro	PROT:P04637	TP53	R	158	P	R158P	Pathogenic	1	6	79	3
MUT:TP53:Arg158Ser	PROT:P04637	TP53	R	158	S	R158S	Pathogenic	1	2	79	3
MUT:TP53:Arg175Gly	PROT:P04637	TP53	R	175	G	R175G	Pathogenic	1	5	79	8
MUT:TP53:Arg175His	PROT:P04637	TP53	R	175	H	R175H	Pathogenic	1	19	79	8
MUT:TP53:Arg175Leu	PROT:P04637	TP53	R	175	L	R175L	Likely pathogenic	1	3	79	8
MUT:TP53:Arg181Cys	PROT:P04637	TP53	R	181	C	R181C	Likely pathogenic	1	7	79	2
MUT:TP53:Arg181His	PROT:P04637	TP53	R	181	H	R181H	Pathogenic/Likely pathogenic	1	9	79	2
MUT:TP53:Arg181Pro	PROT:P04637	TP53	R	181	P	R181P	Pathogenic/Likely pathogenic	1	4	79	2
MUT:TP53:Arg196Pro	PROT:P04637	TP53	R	196	P	R196P	Pathogenic/Likely pathogenic	1	5	79	11
MUT:TP53:Arg209Lys	PROT:P04637	TP53	R	209	K	R209K	Likely benign	0	3	79	2
MUT:TP53:Arg213Gln	PROT:P04637	TP53	R	213	Q	R213Q	Pathogenic/Likely pathogenic	1	11	79	2
MUT:TP53:Arg213Pro	PROT:P04637	TP53	R	213	P	R213P	Pathogenic/Likely pathogenic	1	4	79	2
MUT:TP53:Arg213Trp	PROT:P04637	TP53	R	213	W	R213W	Pathogenic/Likely pathogenic	1	2	79	2
MUT:TP53:Arg248Gln	PROT:P04637	TP53	R	248	Q	R248Q	Pathogenic	1	27	79	1
MUT:TP53:Arg248Gly	PROT:P04637	TP53	R	248	G	R248G	Pathogenic/Likely pathogenic	1	5	79	1
MUT:TP53:Arg248Leu	PROT:P04637	TP53	R	248	L	R248L	Pathogenic	1	5	79	1
MUT:TP53:Arg248Pro	PROT:P04637	TP53	R	248	P	R248P	Pathogenic/Likely pathogenic	1	3	79	1
MUT:TP53:Arg248Trp	PROT:P04637	TP53	R	248	W	R248W	Pathogenic	1	20	79	1
MUT:TP53:Arg249Ser	PROT:P04637	TP53	R	249	S	R249S	Pathogenic/Likely pathogenic	1	9	79	0
MUT:TP53:Arg249Thr	PROT:P04637	TP53	R	249	T	R249T	Pathogenic/Likely pathogenic	1	2	79	0
MUT:TP53:Arg267Gly	PROT:P04637	TP53	R	267	G	R267G	Pathogenic	1	3	79	2
MUT:TP53:Arg267Pro	PROT:P04637	TP53	R	267	P	R267P	Pathogenic	1	3	79	2
MUT:TP53:Arg267Trp	PROT:P04637	TP53	R	267	W	R267W	Pathogenic/Likely pathogenic	1	10	79	2
MUT:TP53:Arg273Cys	PROT:P04637	TP53	R	273	C	R273C	Pathogenic/Likely pathogenic	1	17	79	4
MUT:TP53:Arg273Gly	PROT:P04637	TP53	R	273	G	R273G	Pathogenic/Likely pathogenic	1	6	79	4
MUT:TP53:Arg273His	PROT:P04637	TP53	R	273	H	R273H	Pathogenic	1	19	79	4
MUT:TP53:Arg273Leu	PROT:P04637	TP53	R	273	L	R273L	Pathogenic	1	7	79	4
MUT:TP53:Arg273Pro	PROT:P04637	TP53	R	273	P	R273P	Pathogenic/Likely pathogenic	1	4	79	4
MUT:TP53:Arg273Ser	PROT:P04637	TP53	R	273	S	R273S	Pathogenic	1	7	79	4
MUT:TP53:Arg280Ser	PROT:P04637	TP53	R	280	S	R280S	Pathogenic/Likely pathogenic	1	6	79	4
MUT:TP53:Arg280Thr	PROT:P04637	TP53	R	280	T	R280T	Pathogenic/Likely pathogenic	1	6	79	4
MUT:TP53:Arg282Gly	PROT:P04637	TP53	R	282	G	R282G	Pathogenic	1	4	79	2
MUT:TP53:Arg282Pro	PROT:P04637	TP53	R	282	P	R282P	Pathogenic/Likely pathogenic	1	4	79	2
MUT:TP53:Arg282Trp	PROT:P04637	TP53	R	282	W	R282W	Pathogenic/Likely pathogenic	1	20	79	2
MUT:TP53:Arg283Cys	PROT:P04637	TP53	R	283	C	R283C	Likely benign	0	6	79	1
MUT:TP53:Arg283Pro	PROT:P04637	TP53	R	283	P	R283P	Pathogenic	1	3	79	1
MUT:TP53:Arg290Cys	PROT:P04637	TP53	R	290	C	R290C	Benign	0	2	79	1
MUT:TP53:Arg290His	PROT:P04637	TP53	R	290	H	R290H	Benign	0	6	79	1
MUT:TP53:Arg333Cys	PROT:P04637	TP53	R	333	C	R333C	Likely benign	0	5	79	6
MUT:TP53:Arg333His	PROT:P04637	TP53	R	333	H	R333H	Benign	0	4	79	6
MUT:TP53:Arg335Cys	PROT:P04637	TP53	R	335	C	R335C	Likely benign	0	3	79	8
MUT:TP53:Arg335Leu	PROT:P04637	TP53	R	335	L	R335L	Likely benign	0	1	79	8
MUT:TP53:Arg337Cys	PROT:P04637	TP53	R	337	C	R337C	Pathogenic	1	6	79	10
MUT:TP53:Arg337Gly	PROT:P04637	TP53	R	337	G	R337G	Likely pathogenic	1	1	79	10
MUT:TP53:Arg337Leu	PROT:P04637	TP53	R	337	L	R337L	Likely pathogenic	1	5	79	10
MUT:TP53:Arg337Pro	PROT:P04637	TP53	R	337	P	R337P	Likely pathogenic	1	3	79	10
MUT:TP53:Arg337Ser	PROT:P04637	TP53	R	337	S	R337S	Likely pathogenic	1	1	79	10
MUT:TP53:Arg342Gln	PROT:P04637	TP53	R	342	Q	R342Q	Likely benign	0	2	79	9
MUT:TP53:Arg342Pro	PROT:P04637	TP53	R	342	P	R342P	Pathogenic	1	5	79	9
MUT:TP53:Arg379His	PROT:P04637	TP53	R	379	H	R379H	Likely benign	0	3	79	1
MUT:TP53:Arg379Leu	PROT:P04637	TP53	R	379	L	R379L	Likely benign	0	3	79	1
MUT:TP53:Arg379Ser	PROT:P04637	TP53	R	379	S	R379S	Likely benign	0	3	79	1
MUT:TP53:Asn131His	PROT:P04637	TP53	N	131	H	N131H	Likely pathogenic	1	1	79	1
MUT:TP53:Asn131Ile	PROT:P04637	TP53	N	131	I	N131I	Pathogenic/Likely pathogenic	1	4	79	1
MUT:TP53:Asn210Ser	PROT:P04637	TP53	N	210	S	N210S	Likely benign	0	2	79	1
MUT:TP53:Asn235Ser	PROT:P04637	TP53	N	235	S	N235S	Benign	0	7	79	1
MUT:TP53:Asn239Ser	PROT:P04637	TP53	N	239	S	N239S	Pathogenic/Likely pathogenic	1	3	79	5
MUT:TP53:Asn247Ile	PROT:P04637	TP53	N	247	I	N247I	Pathogenic	1	3	79	2
MUT:TP53:Asn263Ser	PROT:P04637	TP53	N	263	S	N263S	Likely benign	0	1	79	6
MUT:TP53:Asn29Asp	PROT:P04637	TP53	N	29	D	N29D	Likely benign	0	1	79	4
MUT:TP53:Asn310Ser	PROT:P04637	TP53	N	310	S	N310S	Likely benign	0	1	79	2
MUT:TP53:Asp186Asn	PROT:P04637	TP53	D	186	N	D186N	Likely benign	0	2	79	1
MUT:TP53:Asp186Glu	PROT:P04637	TP53	D	186	E	D186E	Likely benign	0	3	79	1
MUT:TP53:Asp207Glu	PROT:P04637	TP53	D	207	E	D207E	Likely benign	0	1	79	4
MUT:TP53:Asp21Ala	PROT:P04637	TP53	D	21	A	D21A	Likely benign	0	1	79	1
MUT:TP53:Asp228Tyr	PROT:P04637	TP53	D	228	Y	D228Y	Likely benign	0	1	79	6
MUT:TP53:Asp259Ala	PROT:P04637	TP53	D	259	A	D259A	Pathogenic	1	1	79	10
MUT:TP53:Asp281Ala	PROT:P04637	TP53	D	281	A	D281A	Pathogenic/Likely pathogenic	1	4	79	3
MUT:TP53:Asp281Asn	PROT:P04637	TP53	D	281	N	D281N	Pathogenic/Likely pathogenic	1	4	79	3
MUT:TP53:Asp281Glu	PROT:P04637	TP53	D	281	E	D281E	Pathogenic/Likely pathogenic	1	6	79	3
MUT:TP53:Asp281Gly	PROT:P04637	TP53	D	281	G	D281G	Pathogenic	1	3	79	3
MUT:TP53:Asp281His	PROT:P04637	TP53	D	281	H	D281H	Pathogenic/Likely pathogenic	1	6	79	3
MUT:TP53:Asp281Tyr	PROT:P04637	TP53	D	281	Y	D281Y	Pathogenic/Likely pathogenic	1	5	79	3
MUT:TP53:Asp281Val	PROT:P04637	TP53	D	281	V	D281V	Pathogenic/Likely pathogenic	1	3	79	3
MUT:TP53:Asp324Asn	PROT:P04637	TP53	D	324	N	D324N	Benign	0	1	79	3
MUT:TP53:Asp324Glu	PROT:P04637	TP53	D	324	E	D324E	Likely benign	0	1	79	3
MUT:TP53:Asp393Tyr	PROT:P04637	TP53	D	393	Y	D393Y	Likely benign	0	1	79	1
MUT:TP53:Asp48Glu	PROT:P04637	TP53	D	48	E	D48E	Likely benign	0	2	79	2
MUT:TP53:Asp48Gly	PROT:P04637	TP53	D	48	G	D48G	Likely benign	0	1	79	2
MUT:TP53:Asp49Asn	PROT:P04637	TP53	D	49	N	D49N	Benign	0	3	79	3
MUT:TP53:Asp49His	PROT:P04637	TP53	D	49	H	D49H	Benign	0	4	79	3
MUT:TP53:Asp57Val	PROT:P04637	TP53	D	57	V	D57V	Likely benign	0	1	79	2
MUT:TP53:Asp7Glu	PROT:P04637	TP53	D	7	E	D7E	Likely benign	0	2	79	1
MUT:TP53:Cys124Arg	PROT:P04637	TP53	C	124	R	C124R	Likely pathogenic	1	1	79	2
MUT:TP53:Cys124Ser	PROT:P04637	TP53	C	124	S	C124S	Likely benign	0	2	79	2
MUT:TP53:Cys124Trp	PROT:P04637	TP53	C	124	W	C124W	Likely benign	0	1	79	2
MUT:TP53:Cys135Arg	PROT:P04637	TP53	C	135	R	C135R	Pathogenic/Likely pathogenic	1	2	79	3
MUT:TP53:Cys135Gly	PROT:P04637	TP53	C	135	G	C135G	Pathogenic	1	4	79	3
MUT:TP53:Cys135Phe	PROT:P04637	TP53	C	135	F	C135F	Pathogenic/Likely pathogenic	1	6	79	3
MUT:TP53:Cys141Trp	PROT:P04637	TP53	C	141	W	C141W	Pathogenic	1	3	79	2
MUT:TP53:Cys141Tyr	PROT:P04637	TP53	C	141	Y	C141Y	Pathogenic/Likely pathogenic	1	5	79	2
MUT:TP53:Cys176Phe	PROT:P04637	TP53	C	176	F	C176F	Pathogenic/Likely pathogenic	1	8	79	7
MUT:TP53:Cys176Tyr	PROT:P04637	TP53	C	176	Y	C176Y	Pathogenic/Likely pathogenic	1	8	79	7
MUT:TP53:Cys238Arg	PROT:P04637	TP53	C	238	R	C238R	Pathogenic/Likely pathogenic	1	3	79	4
MUT:TP53:Cys238Gly	PROT:P04637	TP53	C	238	G	C238G	Pathogenic/Likely pathogenic	1	3	79	4
MUT:TP53:Cys238Phe	PROT:P04637	TP53	C	238	F	C238F	Pathogenic/Likely pathogenic	1	3	79	4
MUT:TP53:Cys238Ser	PROT:P04637	TP53	C	238	S	C238S	Pathogenic/Likely pathogenic	1	3	79	4
MUT:TP53:Cys238Trp	PROT:P04637	TP53	C	238	W	C238W	Pathogenic/Likely pathogenic	1	3	79	4
MUT:TP53:Cys238Tyr	PROT:P04637	TP53	C	238	Y	C238Y	Pathogenic/Likely pathogenic	1	8	79	4
MUT:TP53:Cys242Trp	PROT:P04637	TP53	C	242	W	C242W	Pathogenic	1	1	79	7
MUT:TP53:Cys242Tyr	PROT:P04637	TP53	C	242	Y	C242Y	Pathogenic/Likely pathogenic	1	6	79	7
MUT:TP53:Cys275Phe	PROT:P04637	TP53	C	275	F	C275F	Pathogenic	1	5	79	6
MUT:TP53:Cys275Tyr	PROT:P04637	TP53	C	275	Y	C275Y	Pathogenic/Likely pathogenic	1	8	79	6
MUT:TP53:Cys277Gly	PROT:P04637	TP53	C	277	G	C277G	Likely pathogenic	1	2	79	7
MUT:TP53:Gln165Leu	PROT:P04637	TP53	Q	165	L	Q165L	Pathogenic	1	1	79	1
MUT:TP53:Gln317Lys	PROT:P04637	TP53	Q	317	K	Q317K	Benign	0	4	79	2
MUT:TP53:Gln354Leu	PROT:P04637	TP53	Q	354	L	Q354L	Benign	0	1	79	3
MUT:TP53:Gln354Lys	PROT:P04637	TP53	Q	354	K	Q354K	Benign	0	3	79	3
MUT:TP53:Gln354Pro	PROT:P04637	TP53	Q	354	P	Q354P	Likely benign	0	1	79	3
MUT:TP53:Gln375Lys	PROT:P04637	TP53	Q	375	K	Q375K	Likely benign	0	1	79	1
MUT:TP53:Glu171Asp	PROT:P04637	TP53	E	171	D	E171D	Pathogenic	1	1	79	7
MUT:TP53:Glu171Gly	PROT:P04637	TP53	E	171	G	E171G	Pathogenic	1	1	79	7
MUT:TP53:Glu171Lys	PROT:P04637	TP53	E	171	K	E171K	Likely benign	0	2	79	7
MUT:TP53:Glu180Lys	PROT:P04637	TP53	E	180	K	E180K	Likely pathogenic	1	4	79	3
MUT:TP53:Glu204Asp	PROT:P04637	TP53	E	204	D	E204D	Likely benign	0	1	79	7
MUT:TP53:Glu258Lys	PROT:P04637	TP53	E	258	K	E258K	Pathogenic/Likely pathogenic	1	5	79	9
MUT:TP53:Glu271Val	PROT:P04637	TP53	E	271	V	E271V	Likely pathogenic	1	2	79	2
MUT:TP53:Glu285Lys	PROT:P04637	TP53	E	285	K	E285K	Pathogenic/Likely pathogenic	1	6	79	1
MUT:TP53:Glu285Val	PROT:P04637	TP53	E	285	V	E285V	Pathogenic	1	4	79	1
MUT:TP53:Glu286Ala	PROT:P04637	TP53	E	286	A	E286A	Likely pathogenic	1	1	79	2
MUT:TP53:Glu286Lys	PROT:P04637	TP53	E	286	K	E286K	Pathogenic/Likely pathogenic	1	7	79	2
MUT:TP53:Glu287Gly	PROT:P04637	TP53	E	287	G	E287G	Likely benign	0	1	79	3
MUT:TP53:Glu298Lys	PROT:P04637	TP53	E	298	K	E298K	Benign	0	5	79	5
MUT:TP53:Glu326Val	PROT:P04637	TP53	E	326	V	E326V	Likely pathogenic	1	1	79	1
MUT:TP53:Glu336Gln	PROT:P04637	TP53	E	336	Q	E336Q	Likely benign	0	1	79	9
MUT:TP53:Glu339Gln	PROT:P04637	TP53	E	339	Q	E339Q	Likely benign	0	2	79	12
MUT:TP53:Glu349Gly	PROT:P04637	TP53	E	349	G	E349G	Likely benign	0	1	79	2
MUT:TP53:Glu388Ala	PROT:P04637	TP53	E	388	A	E388A	Likely benign	0	2	79	1
MUT:TP53:Glu388Asp	PROT:P04637	TP53	E	388	D	E388D	Likely benign	0	1	79	1
MUT:TP53:Glu388Gln	PROT:P04637	TP53	E	388	Q	E388Q	Likely benign	0	1	79	1
MUT:TP53:Glu62Gly	PROT:P04637	TP53	E	62	G	E62G	Likely benign	0	1	79	7
MUT:TP53:Gly105Arg	PROT:P04637	TP53	G	105	R	G105R	Pathogenic/Likely pathogenic	1	3	79	1
MUT:TP53:Gly105Ser	PROT:P04637	TP53	G	105	S	G105S	Pathogenic/Likely pathogenic	1	5	79	1
MUT:TP53:Gly108Ser	PROT:P04637	TP53	G	108	S	G108S	Likely benign	0	4	79	2
MUT:TP53:Gly199Val	PROT:P04637	TP53	G	199	V	G199V	Likely pathogenic	1	3	79	12
MUT:TP53:Gly244Ala	PROT:P04637	TP53	G	244	A	G244A	Pathogenic/Likely pathogenic	1	4	79	5
MUT:TP53:Gly244Asp	PROT:P04637	TP53	G	244	D	G244D	Pathogenic/Likely pathogenic	1	6	79	5
MUT:TP53:Gly244Ser	PROT:P04637	TP53	G	244	S	G244S	Pathogenic	1	10	79	5
MUT:TP53:Gly244Val	PROT:P04637	TP53	G	244	V	G244V	Likely pathogenic	1	2	79	5
MUT:TP53:Gly245Asp	PROT:P04637	TP53	G	245	D	G245D	Pathogenic/Likely pathogenic	1	8	79	4
MUT:TP53:Gly245Cys	PROT:P04637	TP53	G	245	C	G245C	Pathogenic	1	7	79	4
MUT:TP53:Gly245Ser	PROT:P04637	TP53	G	245	S	G245S	Pathogenic	1	19	79	4
MUT:TP53:Gly245Val	PROT:P04637	TP53	G	245	V	G245V	Pathogenic	1	5	79	4
MUT:TP53:Gly262Ser	PROT:P04637	TP53	G	262	S	G262S	Likely benign	0	5	79	7
MUT:TP53:Gly266Arg	PROT:P04637	TP53	G	266	R	G266R	Pathogenic	1	6	79	3
MUT:TP53:Gly266Glu	PROT:P04637	TP53	G	266	E	G266E	Pathogenic/Likely pathogenic	1	8	79	3
MUT:TP53:Gly293Trp	PROT:P04637	TP53	G	293	W	G293W	Likely benign	0	3	79	1
MUT:TP53:Gly302Ala	PROT:P04637	TP53	G	302	A	G302A	Likely benign	0	1	79	1
MUT:TP53:Gly334Trp	PROT:P04637	TP53	G	334	W	G334W	Likely pathogenic	1	2	79	7
MUT:TP53:Gly356Arg	PROT:P04637	TP53	G	356	R	G356R	Likely benign	0	3	79	1
MUT:TP53:Gly356Glu	PROT:P04637	TP53	G	356	E	G356E	Likely benign	0	1	79	1
MUT:TP53:Gly360Ala	PROT:P04637	TP53	G	360	A	G360A	Benign	0	5	79	2
MUT:TP53:Gly374Arg	PROT:P04637	TP53	G	374	R	G374R	Benign	0	3	79	1
MUT:TP53:Gly59Asp	PROT:P04637	TP53	G	59	D	G59D	Likely benign	0	2	79	4
MUT:TP53:His115Arg	PROT:P04637	TP53	H	115	R	H115R	Likely benign	0	2	79	5
MUT:TP53:His168Leu	PROT:P04637	TP53	H	168	L	H168L	Pathogenic	1	2	79	4
MUT:TP53:His168Pro	PROT:P04637	TP53	H	168	P	H168P	Likely pathogenic	1	2	79	4
MUT:TP53:His178Asp	PROT:P04637	TP53	H	178	D	H178D	Pathogenic	1	3	79	5
MUT:TP53:His178Gln	PROT:P04637	TP53	H	178	Q	H178Q	Pathogenic/Likely pathogenic	1	3	79	5
MUT:TP53:His179Arg	PROT:P04637	TP53	H	179	R	H179R	Pathogenic/Likely pathogenic	1	21	79	4
MUT:TP53:His179Asp	PROT:P04637	TP53	H	179	D	H179D	Pathogenic/Likely pathogenic	1	5	79	4
MUT:TP53:His179Gln	PROT:P04637	TP53	H	179	Q	H179Q	Pathogenic/Likely pathogenic	1	5	79	4
MUT:TP53:His179Tyr	PROT:P04637	TP53	H	179	Y	H179Y	Pathogenic/Likely pathogenic	1	8	79	4
MUT:TP53:His193Arg	PROT:P04637	TP53	H	193	R	H193R	Pathogenic/Likely pathogenic	1	7	79	8
MUT:TP53:His193Asn	PROT:P04637	TP53	H	193	N	H193N	Pathogenic/Likely pathogenic	1	2	79	8
MUT:TP53:His193Pro	PROT:P04637	TP53	H	193	P	H193P	Pathogenic	1	2	79	8
MUT:TP53:His193Tyr	PROT:P04637	TP53	H	193	Y	H193Y	Pathogenic/Likely pathogenic	1	4	79	8
MUT:TP53:His214Arg	PROT:P04637	TP53	H	214	R	H214R	Pathogenic	1	5	79	1
MUT:TP53:His214Leu	PROT:P04637	TP53	H	214	L	H214L	Likely pathogenic	1	2	79	1
MUT:TP53:His296Tyr	PROT:P04637	TP53	H	296	Y	H296Y	Likely benign	0	4	79	4
MUT:TP53:His365Tyr	PROT:P04637	TP53	H	365	Y	H365Y	Likely benign	0	5	79	1
MUT:TP53:Ile195Thr	PROT:P04637	TP53	I	195	T	I195T	Pathogenic	1	10	79	10
MUT:TP53:Ile232Asn	PROT:P04637	TP53	I	232	N	I232N	Pathogenic/Likely pathogenic	1	2	79	2
MUT:TP53:Ile232Ser	PROT:P04637	TP53	I	232	S	I232S	Pathogenic	1	2	79	2
MUT:TP53:Ile232Thr	PROT:P04637	TP53	I	232	T	I232T	Pathogenic/Likely pathogenic	1	2	79	2
MUT:TP53:Ile251Leu	PROT:P04637	TP53	I	251	L	I251L	Pathogenic/Likely pathogenic	1	4	79	2
MUT:TP53:Ile251Phe	PROT:P04637	TP53	I	251	F	I251F	Pathogenic/Likely pathogenic	1	3	79	2
MUT:TP53:Ile254Asn	PROT:P04637	TP53	I	254	N	I254N	Pathogenic	1	3	79	5
MUT:TP53:Ile254Thr	PROT:P04637	TP53	I	254	T	I254T	Pathogenic	1	4	79	5
MUT:TP53:Ile254Val	PROT:P04637	TP53	I	254	V	I254V	Likely benign	0	3	79	5
MUT:TP53:Ile332Asn	PROT:P04637	TP53	I	332	N	I332N	Likely pathogenic	1	1	79	5
MUT:TP53:Ile332Leu	PROT:P04637	TP53	I	332	L	I332L	Likely benign	0	1	79	5
MUT:TP53:Ile50Thr	PROT:P04637	TP53	I	50	T	I50T	Likely benign	0	3	79	4
MUT:TP53:Leu111Arg	PROT:P04637	TP53	L	111	R	L111R	Pathogenic	1	1	79	5
MUT:TP53:Leu111Gln	PROT:P04637	TP53	L	111	Q	L111Q	Pathogenic	1	2	79	5
MUT:TP53:Leu111Pro	PROT:P04637	TP53	L	111	P	L111P	Pathogenic	1	4	79	5
MUT:TP53:Leu111Val	PROT:P04637	TP53	L	111	V	L111V	Likely benign	0	2	79	5
MUT:TP53:Leu130His	PROT:P04637	TP53	L	130	H	L130H	Pathogenic	1	1	79	2
MUT:TP53:Leu130Pro	PROT:P04637	TP53	L	130	P	L130P	Pathogenic	1	1	79	2
MUT:TP53:Leu194Arg	PROT:P04637	TP53	L	194	R	L194R	Pathogenic	1	7	79	9
MUT:TP53:Leu194Phe	PROT:P04637	TP53	L	194	F	L194F	Pathogenic/Likely pathogenic	1	5	79	9
MUT:TP53:Leu265Gln	PROT:P04637	TP53	L	265	Q	L265Q	Pathogenic/Likely pathogenic	1	2	79	4
MUT:TP53:Leu265Pro	PROT:P04637	TP53	L	265	P	L265P	Pathogenic/Likely pathogenic	1	4	79	4
MUT:TP53:Leu289Pro	PROT:P04637	TP53	L	289	P	L289P	Likely benign	0	1	79	2
MUT:TP53:Leu299Val	PROT:P04637	TP53	L	299	V	L299V	Likely benign	0	1	79	4
MUT:TP53:Leu32Val	PROT:P04637	TP53	L	32	V	L32V	Likely benign	0	1	79	1
MUT:TP53:Leu344Arg	PROT:P04637	TP53	L	344	R	L344R	Likely pathogenic	1	2	79	7
MUT:TP53:Leu344Pro	PROT:P04637	TP53	L	344	P	L344P	Likely pathogenic	1	5	79	7
MUT:TP53:Leu350Arg	PROT:P04637	TP53	L	350	R	L350R	Likely benign	0	1	79	1
MUT:TP53:Leu369Met	PROT:P04637	TP53	L	369	M	L369M	Likely benign	0	1	79	1
MUT:TP53:Lys132Arg	PROT:P04637	TP53	K	132	R	K132R	Pathogenic/Likely pathogenic	1	11	79	0
MUT:TP53:Lys132Asn	PROT:P04637	TP53	K	132	N	K132N	Likely pathogenic	1	6	79	0
MUT:TP53:Lys164Glu	PROT:P04637	TP53	K	164	E	K164E	Pathogenic	1	3	79	0
MUT:TP53:Lys292Arg	PROT:P04637	TP53	K	292	R	K292R	Likely benign	0	2	79	0
MUT:TP53:Lys319Thr	PROT:P04637	TP53	K	319	T	K319T	Likely benign	0	1	79	0
MUT:TP53:Met133Thr	PROT:P04637	TP53	M	133	T	M133T	Pathogenic	1	3	79	1
MUT:TP53:Met160Ile	PROT:P04637	TP53	M	160	I	M160I	Likely benign	0	3	79	4
MUT:TP53:Met237Ile	PROT:P04637	TP53	M	237	I	M237I	Pathogenic	1	11	79	3
MUT:TP53:Met237Lys	PROT:P04637	TP53	M	237	K	M237K	Pathogenic/Likely pathogenic	1	4	79	3
MUT:TP53:Met246Ile	PROT:P04637	TP53	M	246	I	M246I	Pathogenic/Likely pathogenic	1	4	79	3
MUT:TP53:Met246Lys	PROT:P04637	TP53	M	246	K	M246K	Likely pathogenic	1	3	79	3
MUT:TP53:Met246Val	PROT:P04637	TP53	M	246	V	M246V	Pathogenic/Likely pathogenic	1	5	79	3
MUT:TP53:Met384Thr	PROT:P04637	TP53	M	384	T	M384T	Benign	0	3	79	2
MUT:TP53:Met384Val	PROT:P04637	TP53	M	384	V	M384V	Likely benign	0	3	79	2
MUT:TP53:Met66Val	PROT:P04637	TP53	M	66	V	M66V	Likely benign	0	1	79	11
MUT:TP53:Phe109Cys	PROT:P04637	TP53	F	109	C	F109C	Likely pathogenic	1	2	79	3
MUT:TP53:Phe109Ile	PROT:P04637	TP53	F	109	I	F109I	Likely pathogenic	1	1	79	3
MUT:TP53:Phe113Cys	PROT:P04637	TP53	F	113	C	F113C	Pathogenic	1	2	79	7
MUT:TP53:Phe113Ile	PROT:P04637	TP53	F	113	I	F113I	Pathogenic/Likely pathogenic	1	2	79	7
MUT:TP53:Phe113Leu	PROT:P04637	TP53	F	113	L	F113L	Likely pathogenic	1	1	79	7
MUT:TP53:Phe113Val	PROT:P04637	TP53	F	113	V	F113V	Pathogenic/Likely pathogenic	1	3	79	7
MUT:TP53:Phe134Cys	PROT:P04637	TP53	F	134	C	F134C	Likely pathogenic	1	2	79	2
MUT:TP53:Phe212Ser	PROT:P04637	TP53	F	212	S	F212S	Likely benign	0	1	79	1
MUT:TP53:Phe270Leu	PROT:P04637	TP53	F	270	L	F270L	Pathogenic/Likely pathogenic	1	6	79	1
MUT:TP53:Phe270Ser	PROT:P04637	TP53	F	270	S	F270S	Pathogenic/Likely pathogenic	1	4	79	1
MUT:TP53:Phe270Val	PROT:P04637	TP53	F	270	V	F270V	Pathogenic	1	2	79	1
MUT:TP53:Phe341Leu	PROT:P04637	TP53	F	341	L	F341L	Likely benign	0	2	79	10
MUT:TP53:Phe341Ser	PROT:P04637	TP53	F	341	S	F341S	Likely pathogenic	1	1	79	10
MUT:TP53:Phe385Leu	PROT:P04637	TP53	F	385	L	F385L	Likely benign	0	1	79	1
MUT:TP53:Pro151Ala	PROT:P04637	TP53	P	151	A	P151A	Pathogenic	1	2	79	1
MUT:TP53:Pro151Arg	PROT:P04637	TP53	P	151	R	P151R	Pathogenic/Likely pathogenic	1	3	79	1
MUT:TP53:Pro151Phe	PROT:P04637	TP53	P	151	F	P151F	Likely pathogenic	1	1	79	1
MUT:TP53:Pro151Ser	PROT:P04637	TP53	P	151	S	P151S	Pathogenic/Likely pathogenic	1	7	79	1
MUT:TP53:Pro151Thr	PROT:P04637	TP53	P	151	T	P151T	Pathogenic/Likely pathogenic	1	6	79	1
MUT:TP53:Pro152Arg	PROT:P04637	TP53	P	152	R	P152R	Pathogenic/Likely pathogenic	1	4	79	2
MUT:TP53:Pro152Leu	PROT:P04637	TP53	P	152	L	P152L	Pathogenic	1	10	79	2
MUT:TP53:Pro177Arg	PROT:P04637	TP53	P	177	R	P177R	Pathogenic/Likely pathogenic	1	3	79	6
MUT:TP53:Pro190Leu	PROT:P04637	TP53	P	190	L	P190L	Likely pathogenic	1	3	79	5
MUT:TP53:Pro191Arg	PROT:P04637	TP53	P	191	R	P191R	Likely benign	0	3	79	6
MUT:TP53:Pro250Leu	PROT:P04637	TP53	P	250	L	P250L	Pathogenic/Likely pathogenic	1	3	79	1
MUT:TP53:Pro278Leu	PROT:P04637	TP53	P	278	L	P278L	Pathogenic	1	4	79	6
MUT:TP53:Pro278Ser	PROT:P04637	TP53	P	278	S	P278S	Pathogenic/Likely pathogenic	1	6	79	6
MUT:TP53:Pro278Thr	PROT:P04637	TP53	P	278	T	P278T	Pathogenic/Likely pathogenic	1	5	79	6
MUT:TP53:Pro295Ser	PROT:P04637	TP53	P	295	S	P295S	Likely benign	0	2	79	3
MUT:TP53:Pro300Leu	PROT:P04637	TP53	P	300	L	P300L	Likely benign	0	1	79	3
MUT:TP53:Pro316Thr	PROT:P04637	TP53	P	316	T	P316T	Likely benign	0	2	79	1
MUT:TP53:Pro318Ser	PROT:P04637	TP53	P	318	S	P318S	Benign	0	1	79	1
MUT:TP53:Pro36Gln	PROT:P04637	TP53	P	36	Q	P36Q	Benign	0	3	79	1
MUT:TP53:Pro47Ser	PROT:P04637	TP53	P	47	S	P47S	Benign	0	7	79	1
MUT:TP53:Pro4Gln	PROT:P04637	TP53	P	4	Q	P4Q	Likely benign	0	1	79	2
MUT:TP53:Pro4Leu	PROT:P04637	TP53	P	4	L	P4L	Likely benign	0	3	79	2
MUT:TP53:Pro58Ala	PROT:P04637	TP53	P	58	A	P58A	Likely benign	0	1	79	3
MUT:TP53:Pro72Ala	PROT:P04637	TP53	P	72	A	P72A	Likely benign	0	5	79	9
MUT:TP53:Pro72Arg	PROT:P04637	TP53	P	72	R	P72R	Benign	0	9	79	9
MUT:TP53:Pro72His	PROT:P04637	TP53	P	72	H	P72H	Benign	0	3	79	9
MUT:TP53:Pro75Ser	PROT:P04637	TP53	P	75	S	P75S	Likely benign	0	1	79	6
MUT:TP53:Pro82Leu	PROT:P04637	TP53	P	82	L	P82L	Likely benign	0	6	79	1
MUT:TP53:Pro8Arg	PROT:P04637	TP53	P	8	R	P8R	Likely benign	0	1	79	1
MUT:TP53:Pro8Leu	PROT:P04637	TP53	P	8	L	P8L	Likely benign	0	1	79	1
MUT:TP53:Pro92Ser	PROT:P04637	TP53	P	92	S	P92S	Likely benign	0	1	79	7
MUT:TP53:Ser106Arg	PROT:P04637	TP53	S	106	R	S106R	Pathogenic	1	1	79	0
MUT:TP53:Ser127Cys	PROT:P04637	TP53	S	127	C	S127C	Likely pathogenic	1	1	79	1
MUT:TP53:Ser127Phe	PROT:P04637	TP53	S	127	F	S127F	Pathogenic/Likely pathogenic	1	9	79	1
MUT:TP53:Ser127Pro	PROT:P04637	TP53	S	127	P	S127P	Likely pathogenic	1	4	79	1
MUT:TP53:Ser127Thr	PROT:P04637	TP53	S	127	T	S127T	Likely pathogenic	1	4	79	1
MUT:TP53:Ser127Tyr	PROT:P04637	TP53	S	127	Y	S127Y	Pathogenic	1	3	79	1
MUT:TP53:Ser166Thr	PROT:P04637	TP53	S	166	T	S166T	Likely benign	0	1	79	2
MUT:TP53:Ser183Pro	PROT:P04637	TP53	S	183	P	S183P	Likely benign	0	1	79	0
MUT:TP53:Ser185Arg	PROT:P04637	TP53	S	185	R	S185R	Likely benign	0	1	79	0
MUT:TP53:Ser185Asn	PROT:P04637	TP53	S	185	N	S185N	Likely benign	0	3	79	0
MUT:TP53:Ser240Asn	PROT:P04637	TP53	S	240	N	S240N	Pathogenic	1	1	79	6
MUT:TP53:Ser240Cys	PROT:P04637	TP53	S	240	C	S240C	Likely pathogenic	1	1	79	6
MUT:TP53:Ser240Gly	PROT:P04637	TP53	S	240	G	S240G	Pathogenic/Likely pathogenic	1	5	79	6
MUT:TP53:Ser241Ala	PROT:P04637	TP53	S	241	A	S241A	Pathogenic/Likely pathogenic	1	3	79	7
MUT:TP53:Ser241Cys	PROT:P04637	TP53	S	241	C	S241C	Pathogenic/Likely pathogenic	1	5	79	7
MUT:TP53:Ser241Phe	PROT:P04637	TP53	S	241	F	S241F	Pathogenic/Likely pathogenic	1	11	79	7
MUT:TP53:Ser241Thr	PROT:P04637	TP53	S	241	T	S241T	Pathogenic/Likely pathogenic	1	4	79	7
MUT:TP53:Ser241Tyr	PROT:P04637	TP53	S	241	Y	S241Y	Pathogenic/Likely pathogenic	1	5	79	7
MUT:TP53:Ser260Tyr	PROT:P04637	TP53	S	260	Y	S260Y	Likely benign	0	2	79	9
MUT:TP53:Ser269Cys	PROT:P04637	TP53	S	269	C	S269C	Benign	0	1	79	0
MUT:TP53:Ser269Ile	PROT:P04637	TP53	S	269	I	S269I	Likely pathogenic	1	1	79	0
MUT:TP53:Ser303Gly	PROT:P04637	TP53	S	303	G	S303G	Likely benign	0	2	79	0
MUT:TP53:Ser313Asn	PROT:P04637	TP53	S	313	N	S313N	Likely benign	0	1	79	0
MUT:TP53:Ser315Thr	PROT:P04637	TP53	S	315	T	S315T	Likely benign	0	3	79	0
MUT:TP53:Ser366Ala	PROT:P04637	TP53	S	366	A	S366A	Benign	0	6	79	0
MUT:TP53:Ser378Thr	PROT:P04637	TP53	S	378	T	S378T	Likely benign	0	1	79	0
MUT:TP53:Ser94Ala	PROT:P04637	TP53	S	94	A	S94A	Likely benign	0	1	79	5
MUT:TP53:Ser94Leu	PROT:P04637	TP53	S	94	L	S94L	Likely benign	0	1	79	5
MUT:TP53:Ser95Thr	PROT:P04637	TP53	S	95	T	S95T	Likely benign	0	1	79	4
MUT:TP53:Thr118Ile	PROT:P04637	TP53	T	118	I	T118I	Likely benign	0	3	79	2
MUT:TP53:Thr125Arg	PROT:P04637	TP53	T	125	R	T125R	Pathogenic/Likely pathogenic	1	4	79	1
MUT:TP53:Thr125Lys	PROT:P04637	TP53	T	125	K	T125K	Pathogenic	1	2	79	1
MUT:TP53:Thr155Asn	PROT:P04637	TP53	T	155	N	T155N	Pathogenic/Likely pathogenic	1	4	79	0
MUT:TP53:Thr170Met	PROT:P04637	TP53	T	170	M	T170M	Likely benign	0	4	79	6
MUT:TP53:Thr253Ala	PROT:P04637	TP53	T	253	A	T253A	Pathogenic/Likely pathogenic	1	2	79	4
MUT:TP53:Thr284Ile	PROT:P04637	TP53	T	284	I	T284I	Likely benign	0	2	79	0
MUT:TP53:Thr312Asn	PROT:P04637	TP53	T	312	N	T312N	Likely benign	0	1	79	0
MUT:TP53:Thr312Ser	PROT:P04637	TP53	T	312	S	T312S	Benign	0	4	79	0
MUT:TP53:Thr387Pro	PROT:P04637	TP53	T	387	P	T387P	Likely benign	0	1	79	0
MUT:TP53:Tyr107His	PROT:P04637	TP53	Y	107	H	Y107H	Benign	0	5	79	1
MUT:TP53:Tyr126Asp	PROT:P04637	TP53	Y	126	D	Y126D	Pathogenic/Likely pathogenic	1	4	79	0
MUT:TP53:Tyr163Cys	PROT:P04637	TP53	Y	163	C	Y163C	Pathogenic	1	6	79	1
MUT:TP53:Tyr163His	PROT:P04637	TP53	Y	163	H	Y163H	Pathogenic	1	4	79	1
MUT:TP53:Tyr205Asp	PROT:P04637	TP53	Y	205	D	Y205D	Pathogenic/Likely pathogenic	1	3	79	6
MUT:TP53:Tyr205Cys	PROT:P04637	TP53	Y	205	C	Y205C	Pathogenic	1	4	79	6
MUT:TP53:Tyr205His	PROT:P04637	TP53	Y	205	H	Y205H	Pathogenic/Likely pathogenic	1	4	79	6
MUT:TP53:Tyr220Cys	PROT:P04637	TP53	Y	220	C	Y220C	Pathogenic	1	26	79	0
MUT:TP53:Tyr220His	PROT:P04637	TP53	Y	220	H	Y220H	Pathogenic/Likely pathogenic	1	5	79	0
MUT:TP53:Tyr220Phe	PROT:P04637	TP53	Y	220	F	Y220F	Likely benign	0	1	79	0
MUT:TP53:Tyr220Ser	PROT:P04637	TP53	Y	220	S	Y220S	Pathogenic	1	5	79	0
MUT:TP53:Tyr234Asn	PROT:P04637	TP53	Y	234	N	Y234N	Pathogenic/Likely pathogenic	1	2	79	0
MUT:TP53:Tyr234Asp	PROT:P04637	TP53	Y	234	D	Y234D	Pathogenic/Likely pathogenic	1	3	79	0
MUT:TP53:Tyr234Cys	PROT:P04637	TP53	Y	234	C	Y234C	Pathogenic/Likely pathogenic	1	5	79	0
MUT:TP53:Tyr234His	PROT:P04637	TP53	Y	234	H	Y234H	Pathogenic/Likely pathogenic	1	5	79	0
MUT:TP53:Tyr236Cys	PROT:P04637	TP53	Y	236	C	Y236C	Pathogenic/Likely pathogenic	1	5	79	2
MUT:TP53:Tyr236His	PROT:P04637	TP53	Y	236	H	Y236H	Pathogenic/Likely pathogenic	1	3	79	2
MUT:TP53:Val10Ile	PROT:P04637	TP53	V	10	I	V10I	Benign	0	5	79	1
MUT:TP53:Val10Leu	PROT:P04637	TP53	V	10	L	V10L	Likely benign	0	3	79	1
MUT:TP53:Val122Met	PROT:P04637	TP53	V	122	M	V122M	Likely benign	0	2	79	2
MUT:TP53:Val143Ala	PROT:P04637	TP53	V	143	A	V143A	Pathogenic	1	3	79	4
MUT:TP53:Val143Gly	PROT:P04637	TP53	V	143	G	V143G	Pathogenic/Likely pathogenic	1	2	79	4
MUT:TP53:Val143Met	PROT:P04637	TP53	V	143	M	V143M	Pathogenic/Likely pathogenic	1	6	79	4
MUT:TP53:Val147Gly	PROT:P04637	TP53	V	147	G	V147G	Pathogenic/Likely pathogenic	1	2	79	2
MUT:TP53:Val157Gly	PROT:P04637	TP53	V	157	G	V157G	Pathogenic/Likely pathogenic	1	4	79	2
MUT:TP53:Val157Ile	PROT:P04637	TP53	V	157	I	V157I	Likely benign	0	2	79	2
MUT:TP53:Val157Phe	PROT:P04637	TP53	V	157	F	V157F	Pathogenic/Likely pathogenic	1	7	79	2
MUT:TP53:Val173Ala	PROT:P04637	TP53	V	173	A	V173A	Pathogenic/Likely pathogenic	1	5	79	9
MUT:TP53:Val173Leu	PROT:P04637	TP53	V	173	L	V173L	Pathogenic/Likely pathogenic	1	6	79	9
MUT:TP53:Val173Met	PROT:P04637	TP53	V	173	M	V173M	Pathogenic	1	10	79	9
MUT:TP53:Val197Met	PROT:P04637	TP53	V	197	M	V197M	Likely pathogenic	1	4	79	12
MUT:TP53:Val216Met	PROT:P04637	TP53	V	216	M	V216M	Pathogenic/Likely pathogenic	1	6	79	1
MUT:TP53:Val218Glu	PROT:P04637	TP53	V	218	E	V218E	Likely pathogenic	1	3	79	2
MUT:TP53:Val272Leu	PROT:P04637	TP53	V	272	L	V272L	Pathogenic/Likely pathogenic	1	5	79	3
MUT:TP53:Val272Met	PROT:P04637	TP53	V	272	M	V272M	Pathogenic	1	6	79	3
MUT:TP53:Val274Ile	PROT:P04637	TP53	V	274	I	V274I	Benign	0	1	79	5
MUT:TP53:Val73Glu	PROT:P04637	TP53	V	73	E	V73E	Likely benign	0	1	79	8
MUT:TP53:Val73Met	PROT:P04637	TP53	V	73	M	V73M	Benign	0	2	79	8
MUT:TP53BP1:Arg1753Cys	PROT:Q12888	TP53BP1	R	1753	C	R1753C	Likely benign	0	1	140	3
MUT:TP53BP1:Thr1899Ser	PROT:Q12888	TP53BP1	T	1899	S	T1899S	Likely benign	0	1	140	67
MUT:TP73:Ala2Ser	PROT:O15350	TP73	A	2	S	A2S	Likely benign	0	1	12	25
MUT:TP73:Asp607Glu	PROT:O15350	TP73	D	607	E	D607E	Likely benign	0	1	12	136
MUT:TP73:Ile626Val	PROT:O15350	TP73	I	626	V	I626V	Likely benign	0	1	12	155
MUT:TP73:Met452Ile	PROT:O15350	TP73	M	452	I	M452I	Likely benign	0	1	12	19
MUT:TP73:Thr556Ala	PROT:O15350	TP73	T	556	A	T556A	Likely benign	0	1	12	85
MUT:TP73:Val586Met	PROT:O15350	TP73	V	586	M	V586M	Likely benign	0	1	12	115
MUT:TPD52L2:Gly30Ala	PROT:O43399	TPD52L2	G	30	A	G30A	Likely benign	0	2	22	5
MUT:TPI1:Cys42Tyr	PROT:P60174	TPI1	C	42	Y	C42Y	Pathogenic	1	1	18	14
MUT:TPI1:Glu105Asp	PROT:P60174	TPI1	E	105	D	E105D	Pathogenic/Likely pathogenic	1	1	18	1
MUT:TPI1:Ile171Val	PROT:P60174	TPI1	I	171	V	I171V	Pathogenic	1	1	18	2
MUT:TPI1:Phe241Ser	PROT:P60174	TPI1	F	241	S	F241S	Pathogenic	1	1	18	3
MUT:TPM3:Arg168Cys	PROT:P06753	TPM3	R	168	C	R168C	Pathogenic	1	3	43	1
MUT:TPM3:Arg168Gly	PROT:P06753	TPM3	R	168	G	R168G	Pathogenic/Likely pathogenic	1	4	43	1
MUT:TPM3:Arg168His	PROT:P06753	TPM3	R	168	H	R168H	Pathogenic	1	2	43	1
MUT:TPM3:Arg179Cys	PROT:P06753	TPM3	R	179	C	R179C	Likely pathogenic	1	1	43	10
MUT:TPM3:Arg245Ile	PROT:P06753	TPM3	R	245	I	R245I	Likely pathogenic	1	1	43	1
MUT:TPM3:Arg91Cys	PROT:P06753	TPM3	R	91	C	R91C	Pathogenic/Likely pathogenic	1	1	43	3
MUT:TPM3:Arg91Pro	PROT:P06753	TPM3	R	91	P	R91P	Pathogenic	1	1	43	3
MUT:TPM3:Asp15Asn	PROT:P06753	TPM3	D	15	N	D15N	Likely pathogenic	1	1	43	1
MUT:TPM3:Glu151Gly	PROT:P06753	TPM3	E	151	G	E151G	Likely pathogenic	1	1	43	1
MUT:TPM3:Glu3Gln	PROT:P06753	TPM3	E	3	Q	E3Q	Likely pathogenic	1	1	43	5
MUT:TPM3:Leu100Met	PROT:P06753	TPM3	L	100	M	L100M	Pathogenic	1	2	43	9
MUT:TPM3:Leu149Ile	PROT:P06753	TPM3	L	149	I	L149I	Pathogenic	1	1	43	1
MUT:TPM3:Lys31Thr	PROT:P06753	TPM3	K	31	T	K31T	Benign/Likely benign	0	3	43	15
MUT:TPM3:Met9Arg	PROT:P06753	TPM3	M	9	R	M9R	Pathogenic	1	2	43	1
MUT:TPO:Ala257Ser	PROT:P07202	TPO	A	257	S	A257S	Benign/Likely benign	0	1	5	200
MUT:TPO:Ala373Ser	PROT:P07202	TPO	A	373	S	A373S	Benign/Likely benign	0	1	5	188
MUT:TPO:Ala426Gly	PROT:P07202	TPO	A	426	G	A426G	Benign/Likely benign	0	1	5	135
MUT:TPO:Ala826Thr	PROT:P07202	TPO	A	826	T	A826T	Likely benign	0	1	5	53
MUT:TPO:Arg152Lys	PROT:P07202	TPO	R	152	K	R152K	Likely pathogenic	1	1	5	95
MUT:TPO:Arg412His	PROT:P07202	TPO	R	412	H	R412H	Likely pathogenic	1	1	5	149
MUT:TPO:Arg648Gln	PROT:P07202	TPO	R	648	Q	R648Q	Pathogenic/Likely pathogenic	1	1	5	87
MUT:TPO:Arg665Gln	PROT:P07202	TPO	R	665	Q	R665Q	Likely pathogenic	1	1	5	104
MUT:TPO:Arg665Trp	PROT:P07202	TPO	R	665	W	R665W	Pathogenic	1	2	5	104
MUT:TPO:Asp240Gly	PROT:P07202	TPO	D	240	G	D240G	Likely pathogenic	1	1	5	183
MUT:TPO:Cys825Arg	PROT:P07202	TPO	C	825	R	C825R	Likely pathogenic	1	1	5	54
MUT:TPO:Gln660Glu	PROT:P07202	TPO	Q	660	E	Q660E	Pathogenic/Likely pathogenic	1	2	5	99
MUT:TPO:Glu337Lys	PROT:P07202	TPO	E	337	K	E337K	Likely pathogenic	1	1	5	224
MUT:TPO:Glu799Lys	PROT:P07202	TPO	E	799	K	E799K	Pathogenic/Likely pathogenic	1	1	5	80
MUT:TPO:Gly387Arg	PROT:P07202	TPO	G	387	R	G387R	Likely pathogenic	1	1	5	174
MUT:TPO:Gly493Ser	PROT:P07202	TPO	G	493	S	G493S	Pathogenic	1	3	5	68
MUT:TPO:Gly590Ser	PROT:P07202	TPO	G	590	S	G590S	Pathogenic	1	1	5	29
MUT:TPO:Gly771Arg	PROT:P07202	TPO	G	771	R	G771R	Likely pathogenic	1	2	5	108
MUT:TPO:Gly820Ser	PROT:P07202	TPO	G	820	S	G820S	Likely benign	0	1	5	59
MUT:TPO:Gly860Arg	PROT:P07202	TPO	G	860	R	G860R	Pathogenic/Likely pathogenic	1	1	5	19
MUT:TPO:His520Tyr	PROT:P07202	TPO	H	520	Y	H520Y	Likely pathogenic	1	1	5	41
MUT:TPO:Ile447Phe	PROT:P07202	TPO	I	447	F	I447F	Pathogenic	1	1	5	114
MUT:TPO:Leu529Phe	PROT:P07202	TPO	L	529	F	L529F	Benign/Likely benign	0	1	5	32
MUT:TPO:Met706Val	PROT:P07202	TPO	M	706	V	M706V	Benign/Likely benign	0	1	5	145
MUT:TPO:Phe289Ser	PROT:P07202	TPO	F	289	S	F289S	Pathogenic	1	1	5	232
MUT:TPO:Pro135His	PROT:P07202	TPO	P	135	H	P135H	Benign/Likely benign	0	2	5	78
MUT:TPO:Pro379Arg	PROT:P07202	TPO	P	379	R	P379R	Benign	0	1	5	182
MUT:TPO:Ser131Pro	PROT:P07202	TPO	S	131	P	S131P	Likely pathogenic	1	1	5	74
MUT:TPO:Ser24Leu	PROT:P07202	TPO	S	24	L	S24L	Likely benign	0	1	5	28
MUT:TPO:Ser292Phe	PROT:P07202	TPO	S	292	F	S292F	Pathogenic	1	1	5	235
MUT:TPO:Ser398Thr	PROT:P07202	TPO	S	398	T	S398T	Benign	0	1	5	163
MUT:TPO:Thr725Pro	PROT:P07202	TPO	T	725	P	T725P	Benign/Likely benign	0	1	5	154
MUT:TPO:Tyr453Asp	PROT:P07202	TPO	Y	453	D	Y453D	Pathogenic	1	2	5	108
MUT:TPO:Tyr772Cys	PROT:P07202	TPO	Y	772	C	Y772C	Likely pathogenic	1	1	5	107
MUT:TPO:Val618Met	PROT:P07202	TPO	V	618	M	V618M	Benign/Likely benign	0	1	5	57
MUT:TPO:Val847Ala	PROT:P07202	TPO	V	847	A	V847A	Benign	0	1	5	32
MUT:TPP2:Ala24Ser	PROT:P29144	TPP2	A	24	S	A24S	Likely benign	0	1	43	1
MUT:TPP2:Gly500Asp	PROT:P29144	TPP2	G	500	D	G500D	Pathogenic	1	1	43	15
MUT:TPP2:Ile1100Met	PROT:P29144	TPP2	I	1100	M	I1100M	Likely benign	0	1	43	27
MUT:TPP2:Ser578Pro	PROT:P29144	TPP2	S	578	P	S578P	Likely benign	0	1	43	32
MUT:TPP2:Val512Ile	PROT:P29144	TPP2	V	512	I	V512I	Benign	0	1	43	27
MUT:TPP2:Val65Ile	PROT:P29144	TPP2	V	65	I	V65I	Benign	0	1	43	4
MUT:TPRKB:Tyr149Asn	PROT:Q9Y3C4	TPRKB	Y	149	N	Y149N	Likely pathogenic	1	1	5	1
MUT:TPRKB:Tyr149Cys	PROT:Q9Y3C4	TPRKB	Y	149	C	Y149C	Pathogenic	1	1	5	1
MUT:TRA2B:Met1Arg	PROT:P62995	TRA2B	M	1	R	M1R	Pathogenic	1	1	51	1
MUT:TRA2B:Met1Val	PROT:P62995	TRA2B	M	1	V	M1V	Pathogenic	1	1	51	1
MUT:TRAF3IP2:Arg3Gln	PROT:O43734	TRAF3IP2	R	3	Q	R3Q	Likely benign	0	1	2	33
MUT:TRAF3IP2:Arg74Trp	PROT:O43734	TRAF3IP2	R	74	W	R74W	Benign	0	1	2	38
MUT:TRAF3IP2:Asn395Ser	PROT:O43734	TRAF3IP2	N	395	S	N395S	Likely benign	0	2	2	7
MUT:TRAF3IP2:Asp10Asn	PROT:O43734	TRAF3IP2	D	10	N	D10N	Benign	0	7	2	26
MUT:TRAF3IP2:Gln79His	PROT:O43734	TRAF3IP2	Q	79	H	Q79H	Likely benign	0	1	2	43
MUT:TRAF3IP2:His323Gln	PROT:O43734	TRAF3IP2	H	323	Q	H323Q	Benign	0	1	2	79
MUT:TRAF3IP2:His528Arg	PROT:O43734	TRAF3IP2	H	528	R	H528R	Benign	0	1	2	126
MUT:TRAF3IP2:His64Pro	PROT:O43734	TRAF3IP2	H	64	P	H64P	Benign	0	1	2	28
MUT:TRAF3IP2:Pro217Thr	PROT:O43734	TRAF3IP2	P	217	T	P217T	Benign/Likely benign	0	1	2	181
MUT:TRAF3IP2:Pro28Arg	PROT:O43734	TRAF3IP2	P	28	R	P28R	Likely benign	0	1	2	8
MUT:TRAF3IP2:Ser170Thr	PROT:O43734	TRAF3IP2	S	170	T	S170T	Likely benign	0	1	2	134
MUT:TRAF3IP2:Ser319Arg	PROT:O43734	TRAF3IP2	S	319	R	S319R	Benign	0	2	2	83
MUT:TRAF3IP2:Ser94Asn	PROT:O43734	TRAF3IP2	S	94	N	S94N	Benign/Likely benign	0	1	2	58
MUT:TRAF3IP2:Thr429Asn	PROT:O43734	TRAF3IP2	T	429	N	T429N	Pathogenic	1	1	2	27
MUT:TRAF3IP2:Thr527Ile	PROT:O43734	TRAF3IP2	T	527	I	T527I	Pathogenic	1	1	2	125
MUT:TRAF7:Ala37Thr	PROT:Q6Q0C0	TRAF7	A	37	T	A37T	Likely benign	0	1	25	17
MUT:TRAF7:Ala606Val	PROT:Q6Q0C0	TRAF7	A	606	V	A606V	Likely benign	0	1	25	52
MUT:TRAF7:Ala67Gly	PROT:Q6Q0C0	TRAF7	A	67	G	A67G	Likely benign	0	1	25	2
MUT:TRAF7:Arg11Cys	PROT:Q6Q0C0	TRAF7	R	11	C	R11C	Likely benign	0	1	25	43
MUT:TRAF7:Arg11His	PROT:Q6Q0C0	TRAF7	R	11	H	R11H	Likely benign	0	1	25	43
MUT:TRAF7:Arg371Gly	PROT:Q6Q0C0	TRAF7	R	371	G	R371G	Pathogenic	1	1	25	25
MUT:TRAF7:Arg524Trp	PROT:Q6Q0C0	TRAF7	R	524	W	R524W	Pathogenic/Likely pathogenic	1	2	25	13
MUT:TRAF7:Arg653Leu	PROT:Q6Q0C0	TRAF7	R	653	L	R653L	Likely pathogenic	1	1	25	5
MUT:TRAF7:Arg655Gln	PROT:Q6Q0C0	TRAF7	R	655	Q	R655Q	Pathogenic/Likely pathogenic	1	3	25	3
MUT:TRAF7:Arg8His	PROT:Q6Q0C0	TRAF7	R	8	H	R8H	Likely benign	0	1	25	46
MUT:TRAF7:Glu436Lys	PROT:Q6Q0C0	TRAF7	E	436	K	E436K	Likely pathogenic	1	1	25	75
MUT:TRAF7:Leu243Val	PROT:Q6Q0C0	TRAF7	L	243	V	L243V	Likely benign	0	1	25	9
MUT:TRAF7:Leu402Val	PROT:Q6Q0C0	TRAF7	L	402	V	L402V	Pathogenic	1	1	25	56
MUT:TRAF7:Leu595Val	PROT:Q6Q0C0	TRAF7	L	595	V	L595V	Likely pathogenic	1	1	25	63
MUT:TRAF7:Lys346Glu	PROT:Q6Q0C0	TRAF7	K	346	E	K346E	Pathogenic	1	1	25	0
MUT:TRAF7:Lys5Asn	PROT:Q6Q0C0	TRAF7	K	5	N	K5N	Likely benign	0	1	25	49
MUT:TRAF7:Met374Thr	PROT:Q6Q0C0	TRAF7	M	374	T	M374T	Likely benign	0	1	25	28
MUT:TRAF7:Met633Ile	PROT:Q6Q0C0	TRAF7	M	633	I	M633I	Likely pathogenic	1	2	25	25
MUT:TRAF7:Phe617Leu	PROT:Q6Q0C0	TRAF7	F	617	L	F617L	Likely pathogenic	1	1	25	41
MUT:TRAF7:Phe617Ser	PROT:Q6Q0C0	TRAF7	F	617	S	F617S	Likely pathogenic	1	1	25	41
MUT:TRAF7:Pro22Leu	PROT:Q6Q0C0	TRAF7	P	22	L	P22L	Likely benign	0	1	25	32
MUT:TRAF7:Pro241Leu	PROT:Q6Q0C0	TRAF7	P	241	L	P241L	Likely benign	0	1	25	11
MUT:TRAF7:Ser105Cys	PROT:Q6Q0C0	TRAF7	S	105	C	S105C	Likely benign	0	1	25	0
MUT:TRAF7:Ser51Asn	PROT:Q6Q0C0	TRAF7	S	51	N	S51N	Likely benign	0	1	25	3
MUT:TRAF7:Ser558Phe	PROT:Q6Q0C0	TRAF7	S	558	F	S558F	Pathogenic	1	1	25	47
MUT:TRAF7:Ser629Asn	PROT:Q6Q0C0	TRAF7	S	629	N	S629N	Pathogenic/Likely pathogenic	1	1	25	29
MUT:TRAF7:Thr601Ala	PROT:Q6Q0C0	TRAF7	T	601	A	T601A	Pathogenic	1	1	25	57
MUT:TRAF7:Val491Met	PROT:Q6Q0C0	TRAF7	V	491	M	V491M	Likely benign	0	1	25	20
MUT:TRAF7:Val592Met	PROT:Q6Q0C0	TRAF7	V	592	M	V592M	Likely benign	0	1	25	66
MUT:TRAF7:Val646Ile	PROT:Q6Q0C0	TRAF7	V	646	I	V646I	Pathogenic	1	1	25	12
MUT:TRAIP:Arg18Cys	PROT:Q9BWF2	TRAIP	R	18	C	R18C	Pathogenic	1	1	9	75
MUT:TRAIP:Arg328Gln	PROT:Q9BWF2	TRAIP	R	328	Q	R328Q	Likely benign	0	1	9	33
MUT:TRAIP:Asp289Asn	PROT:Q9BWF2	TRAIP	D	289	N	D289N	Likely benign	0	1	9	6
MUT:TRAIP:Asp94Glu	PROT:Q9BWF2	TRAIP	D	94	E	D94E	Likely benign	0	1	9	1
MUT:TRAIP:Glu338Lys	PROT:Q9BWF2	TRAIP	E	338	K	E338K	Likely benign	0	1	9	24
MUT:TRAIP:Gly335Val	PROT:Q9BWF2	TRAIP	G	335	V	G335V	Likely benign	0	1	9	27
MUT:TRAIP:Ile356Thr	PROT:Q9BWF2	TRAIP	I	356	T	I356T	Likely benign	0	2	9	6
MUT:TRAIP:Ile387Val	PROT:Q9BWF2	TRAIP	I	387	V	I387V	Likely benign	0	1	9	10
MUT:TRAK1:Arg685Gln	PROT:Q9UPV9	TRAK1	R	685	Q	R685Q	Benign/Likely benign	0	1	13	34
MUT:TRAK1:Arg764Gln	PROT:Q9UPV9	TRAK1	R	764	Q	R764Q	Likely benign	0	1	13	45
MUT:TRAK1:Arg953Trp	PROT:Q9UPV9	TRAK1	R	953	W	R953W	Likely benign	0	1	13	31
MUT:TRAK1:Asp59Asn	PROT:Q9UPV9	TRAK1	D	59	N	D59N	Benign/Likely benign	0	1	13	141
MUT:TRAK1:Gln525Arg	PROT:Q9UPV9	TRAK1	Q	525	R	Q525R	Likely benign	0	1	13	12
MUT:TRAK1:Glu517Lys	PROT:Q9UPV9	TRAK1	E	517	K	E517K	Benign	0	1	13	20
MUT:TRAK1:Ile454Val	PROT:Q9UPV9	TRAK1	I	454	V	I454V	Likely benign	0	1	13	9
MUT:TRAK1:Pro484Leu	PROT:Q9UPV9	TRAK1	P	484	L	P484L	Likely benign	0	2	13	2
MUT:TRAK1:Pro783Arg	PROT:Q9UPV9	TRAK1	P	783	R	P783R	Benign/Likely benign	0	1	13	63
MUT:TRAK1:Thr557Ser	PROT:Q9UPV9	TRAK1	T	557	S	T557S	Benign/Likely benign	0	1	13	16
MUT:TRAK1:Thr772Met	PROT:Q9UPV9	TRAK1	T	772	M	T772M	Benign/Likely benign	0	1	13	53
MUT:TRAK1:Val686Phe	PROT:Q9UPV9	TRAK1	V	686	F	V686F	Likely benign	0	1	13	33
MUT:TRAM1:Asn144Asp	PROT:Q15629	TRAM1	N	144	D	N144D	Benign	0	7	6	102
MUT:TRAPPC12:Ala22Thr	PROT:Q8WVT3	TRAPPC12	A	22	T	A22T	Benign/Likely benign	0	1	18	85
MUT:TRAPPC12:Ala231Thr	PROT:Q8WVT3	TRAPPC12	A	231	T	A231T	Likely benign	0	1	18	45
MUT:TRAPPC12:Ala330Thr	PROT:Q8WVT3	TRAPPC12	A	330	T	A330T	Likely benign	0	1	18	5
MUT:TRAPPC12:Ala59Val	PROT:Q8WVT3	TRAPPC12	A	59	V	A59V	Likely benign	0	1	18	48
MUT:TRAPPC12:Ala627Val	PROT:Q8WVT3	TRAPPC12	A	627	V	A627V	Pathogenic/Likely pathogenic	1	2	18	19
MUT:TRAPPC12:Glu49Lys	PROT:Q8WVT3	TRAPPC12	E	49	K	E49K	Benign	0	1	18	58
MUT:TRAPPC12:Gly106Asp	PROT:Q8WVT3	TRAPPC12	G	106	D	G106D	Likely benign	0	1	18	1
MUT:TRAPPC12:Gly267Arg	PROT:Q8WVT3	TRAPPC12	G	267	R	G267R	Likely benign	0	1	18	9
MUT:TRAPPC12:Gly412Ser	PROT:Q8WVT3	TRAPPC12	G	412	S	G412S	Likely benign	0	2	18	48
MUT:TRAPPC12:Gly524Ser	PROT:Q8WVT3	TRAPPC12	G	524	S	G524S	Likely benign	0	1	18	19
MUT:TRAPPC12:Gly721Ser	PROT:Q8WVT3	TRAPPC12	G	721	S	G721S	Likely benign	0	1	18	1
MUT:TRAPPC12:His217Asn	PROT:Q8WVT3	TRAPPC12	H	217	N	H217N	Likely benign	0	1	18	33
MUT:TRAPPC12:Ile537Val	PROT:Q8WVT3	TRAPPC12	I	537	V	I537V	Likely benign	0	1	18	32
MUT:TRAPPC12:Pro262Ser	PROT:Q8WVT3	TRAPPC12	P	262	S	P262S	Likely benign	0	1	18	14
MUT:TRAPPC12:Ser301Gly	PROT:Q8WVT3	TRAPPC12	S	301	G	S301G	Benign	0	2	18	25
MUT:TRAPPC12:Thr421Met	PROT:Q8WVT3	TRAPPC12	T	421	M	T421M	Likely benign	0	1	18	53
MUT:TRAPPC14:Arg422His	PROT:Q8WVR3	TRAPPC14	R	422	H	R422H	Likely benign	0	1	4	69
MUT:TRAPPC14:Val184Ile	PROT:Q8WVR3	TRAPPC14	V	184	I	V184I	Likely benign	0	1	4	307
MUT:TRAPPC2:Met1Leu	PROT:P0DI81	TRAPPC2	M	1	L	M1L	Pathogenic	1	1	2	128
MUT:TRAPPC2:Phe83Ser	PROT:P0DI81	TRAPPC2	F	83	S	F83S	Likely pathogenic	1	2	2	46
MUT:TRAPPC2:Tyr103Cys	PROT:P0DI81	TRAPPC2	Y	103	C	Y103C	Benign	0	1	2	26
MUT:TRAPPC3:Arg62Trp	PROT:O43617	TRAPPC3	R	62	W	R62W	Likely pathogenic	1	1	1	20
MUT:TRAPPC4:Leu125Pro	PROT:Q9Y296	TRAPPC4	L	125	P	L125P	Likely pathogenic	1	1	5	43
MUT:TRAPPC6B:Thr75Ala	PROT:Q86SZ2	TRAPPC6B	T	75	A	T75A	Likely benign	0	1	1	23
MUT:TREM1:Leu209Pro	PROT:Q9NP99	TREM1	L	209	P	L209P	Likely benign	0	1	3	66
MUT:TRIM22:Thr61Asn	PROT:Q8IYM9	TRIM22	T	61	N	T61N	Likely benign	0	1	12	17
MUT:TRIM22:Val359Ile	PROT:Q8IYM9	TRIM22	V	359	I	V359I	Likely benign	0	1	12	18
MUT:TRIM24:Ala26Thr	PROT:O15164	TRIM24	A	26	T	A26T	Benign	0	1	25	84
MUT:TRIM24:Ala967Thr	PROT:O15164	TRIM24	A	967	T	A967T	Benign	0	1	25	29
MUT:TRIM24:Arg684Cys	PROT:O15164	TRIM24	R	684	C	R684C	Likely pathogenic	1	1	25	12
MUT:TRIM24:Arg87Cys	PROT:O15164	TRIM24	R	87	C	R87C	Benign	0	1	25	23
MUT:TRIM24:Ser780Thr	PROT:O15164	TRIM24	S	780	T	S780T	Benign	0	1	25	7
MUT:TRIM28:Asn358Thr	PROT:Q13263	TRIM28	N	358	T	N358T	Benign/Likely benign	0	1	59	3
MUT:TRIM28:Asp202Val	PROT:Q13263	TRIM28	D	202	V	D202V	Likely benign	0	1	59	14
MUT:TRIM28:Thr567Ala	PROT:Q13263	TRIM28	T	567	A	T567A	Benign/Likely benign	0	1	59	26
MUT:TRIM28:Thr728Ile	PROT:Q13263	TRIM28	T	728	I	T728I	Likely benign	0	1	59	22
MUT:TRIM32:Asp487Asn	PROT:Q13049	TRIM32	D	487	N	D487N	Pathogenic	1	6	30	16
MUT:TRIM32:Glu347Val	PROT:Q13049	TRIM32	E	347	V	E347V	Likely benign	0	1	30	5
MUT:TRIM32:Pro130Ser	PROT:Q13049	TRIM32	P	130	S	P130S	Pathogenic/Likely pathogenic	1	4	30	9
MUT:TRIM36:Asn444Ser	PROT:Q9NQ86	TRIM36	N	444	S	N444S	Benign	0	1	13	18
MUT:TRIM36:Asp666Asn	PROT:Q9NQ86	TRIM36	D	666	N	D666N	Benign	0	1	13	18
MUT:TRIM36:Gln713Glu	PROT:Q9NQ86	TRIM36	Q	713	E	Q713E	Benign	0	1	13	65
MUT:TRIM36:Phe124Leu	PROT:Q9NQ86	TRIM36	F	124	L	F124L	Likely benign	0	1	13	17
MUT:TRIM36:Pro496Thr	PROT:Q9NQ86	TRIM36	P	496	T	P496T	Pathogenic	1	1	13	2
MUT:TRIM36:Ser249Thr	PROT:Q9NQ86	TRIM36	S	249	T	S249T	Likely benign	0	1	13	27
MUT:TRIM8:Asp138Asn	PROT:Q9BZR9	TRIM8	D	138	N	D138N	Likely benign	0	1	8	57
MUT:TRIM8:Gly398Ser	PROT:Q9BZR9	TRIM8	G	398	S	G398S	Benign/Likely benign	0	1	8	59
MUT:TRIM8:Ile14Met	PROT:Q9BZR9	TRIM8	I	14	M	I14M	Likely benign	0	2	8	31
MUT:TRIM8:Thr381Met	PROT:Q9BZR9	TRIM8	T	381	M	T381M	Benign	0	1	8	42
MUT:TRIOBP:Ala1863Val	PROT:Q9H2D6	TRIOBP	A	1863	V	A1863V	Benign/Likely benign	0	2	21	9
MUT:TRIOBP:Ala1923Thr	PROT:Q9H2D6	TRIOBP	A	1923	T	A1923T	Benign/Likely benign	0	2	21	2
MUT:TRIOBP:Ala322Val	PROT:Q9H2D6	TRIOBP	A	322	V	A322V	Benign/Likely benign	0	2	21	534
MUT:TRIOBP:Ala531Thr	PROT:Q9H2D6	TRIOBP	A	531	T	A531T	Benign/Likely benign	0	1	21	325
MUT:TRIOBP:Ala998Thr	PROT:Q9H2D6	TRIOBP	A	998	T	A998T	Benign/Likely benign	0	2	21	103
MUT:TRIOBP:Arg1025Gln	PROT:Q9H2D6	TRIOBP	R	1025	Q	R1025Q	Benign/Likely benign	0	1	21	130
MUT:TRIOBP:Arg1344Gln	PROT:Q9H2D6	TRIOBP	R	1344	Q	R1344Q	Benign/Likely benign	0	3	21	169
MUT:TRIOBP:Arg1367Trp	PROT:Q9H2D6	TRIOBP	R	1367	W	R1367W	Likely benign	0	1	21	192
MUT:TRIOBP:Arg1445Gly	PROT:Q9H2D6	TRIOBP	R	1445	G	R1445G	Benign/Likely benign	0	1	21	270
MUT:TRIOBP:Arg1504Gly	PROT:Q9H2D6	TRIOBP	R	1504	G	R1504G	Likely benign	0	1	21	292
MUT:TRIOBP:Arg1576Cys	PROT:Q9H2D6	TRIOBP	R	1576	C	R1576C	Benign/Likely benign	0	1	21	220
MUT:TRIOBP:Arg409Gln	PROT:Q9H2D6	TRIOBP	R	409	Q	R409Q	Benign/Likely benign	0	1	21	447
MUT:TRIOBP:Arg409Trp	PROT:Q9H2D6	TRIOBP	R	409	W	R409W	Likely benign	0	1	21	447
MUT:TRIOBP:Arg576Thr	PROT:Q9H2D6	TRIOBP	R	576	T	R576T	Likely benign	0	1	21	280
MUT:TRIOBP:Asn863Lys	PROT:Q9H2D6	TRIOBP	N	863	K	N863K	Benign	0	1	21	7
MUT:TRIOBP:Asp168Glu	PROT:Q9H2D6	TRIOBP	D	168	E	D168E	Benign/Likely benign	0	1	21	688
MUT:TRIOBP:Glu1380Gly	PROT:Q9H2D6	TRIOBP	E	1380	G	E1380G	Benign/Likely benign	0	1	21	205
MUT:TRIOBP:His1300Arg	PROT:Q9H2D6	TRIOBP	H	1300	R	H1300R	Benign	0	1	21	125
MUT:TRIOBP:Leu1212Gln	PROT:Q9H2D6	TRIOBP	L	1212	Q	L1212Q	Likely benign	0	1	21	37
MUT:TRIOBP:Leu122Ser	PROT:Q9H2D6	TRIOBP	L	122	S	L122S	Likely benign	0	1	21	734
MUT:TRIOBP:Leu1742Phe	PROT:Q9H2D6	TRIOBP	L	1742	F	L1742F	Likely benign	0	1	21	54
MUT:TRIOBP:Lys413Arg	PROT:Q9H2D6	TRIOBP	K	413	R	K413R	Likely benign	0	1	21	443
MUT:TRIOBP:Phe1187Leu	PROT:Q9H2D6	TRIOBP	F	1187	L	F1187L	Benign	0	1	21	12
MUT:TRIOBP:Pro1030Arg	PROT:Q9H2D6	TRIOBP	P	1030	R	P1030R	Benign	0	1	21	135
MUT:TRIOBP:Pro276Ser	PROT:Q9H2D6	TRIOBP	P	276	S	P276S	Likely pathogenic	1	1	21	580
MUT:TRIOBP:Pro378Ser	PROT:Q9H2D6	TRIOBP	P	378	S	P378S	Benign/Likely benign	0	1	21	478
MUT:TRIOBP:Pro89Ala	PROT:Q9H2D6	TRIOBP	P	89	A	P89A	Benign/Likely benign	0	1	21	767
MUT:TRIOBP:Ser166Thr	PROT:Q9H2D6	TRIOBP	S	166	T	S166T	Benign/Likely benign	0	2	21	690
MUT:TRIOBP:Ser1908Gly	PROT:Q9H2D6	TRIOBP	S	1908	G	S1908G	Likely benign	0	1	21	17
MUT:TRIOBP:Ser217Asn	PROT:Q9H2D6	TRIOBP	S	217	N	S217N	Benign	0	1	21	639
MUT:TRIOBP:Ser493Asn	PROT:Q9H2D6	TRIOBP	S	493	N	S493N	Benign	0	1	21	363
MUT:TRIOBP:Ser647Asn	PROT:Q9H2D6	TRIOBP	S	647	N	S647N	Benign	0	1	21	209
MUT:TRIOBP:Ser826Leu	PROT:Q9H2D6	TRIOBP	S	826	L	S826L	Benign	0	1	21	30
MUT:TRIOBP:Thr1802Ser	PROT:Q9H2D6	TRIOBP	T	1802	S	T1802S	Likely benign	0	1	21	6
MUT:TRIOBP:Thr195Ile	PROT:Q9H2D6	TRIOBP	T	195	I	T195I	Benign/Likely benign	0	2	21	661
MUT:TRIOBP:Thr2152Met	PROT:Q9H2D6	TRIOBP	T	2152	M	T2152M	Benign	0	1	21	47
MUT:TRIOBP:Trp1377Arg	PROT:Q9H2D6	TRIOBP	W	1377	R	W1377R	Benign	0	1	21	202
MUT:TRIP12:Ala1677Val	PROT:Q14669	TRIP12	A	1677	V	A1677V	Likely pathogenic	1	1	71	9
MUT:TRIP12:Ala279Val	PROT:Q14669	TRIP12	A	279	V	A279V	Likely benign	0	1	71	1
MUT:TRIP12:Ala389Thr	PROT:Q14669	TRIP12	A	389	T	A389T	Likely benign	0	1	71	2
MUT:TRIP12:Arg1220Cys	PROT:Q14669	TRIP12	R	1220	C	R1220C	Likely benign	0	1	71	1
MUT:TRIP12:Arg1635Gln	PROT:Q14669	TRIP12	R	1635	Q	R1635Q	Pathogenic/Likely pathogenic	1	1	71	26
MUT:TRIP12:Arg1670Gln	PROT:Q14669	TRIP12	R	1670	Q	R1670Q	Pathogenic	1	1	71	2
MUT:TRIP12:Arg307His	PROT:Q14669	TRIP12	R	307	H	R307H	Likely benign	0	1	71	3
MUT:TRIP12:Arg414Gly	PROT:Q14669	TRIP12	R	414	G	R414G	Likely benign	0	1	71	10
MUT:TRIP12:Arg414Trp	PROT:Q14669	TRIP12	R	414	W	R414W	Likely benign	0	1	71	10
MUT:TRIP12:Asn1353Asp	PROT:Q14669	TRIP12	N	1353	D	N1353D	Likely benign	0	1	71	23
MUT:TRIP12:Asn880Thr	PROT:Q14669	TRIP12	N	880	T	N880T	Likely benign	0	1	71	56
MUT:TRIP12:Asp1662Glu	PROT:Q14669	TRIP12	D	1662	E	D1662E	Likely pathogenic	1	1	71	1
MUT:TRIP12:Cys785Trp	PROT:Q14669	TRIP12	C	785	W	C785W	Likely benign	0	1	71	5
MUT:TRIP12:Glu1012Ala	PROT:Q14669	TRIP12	E	1012	A	E1012A	Likely benign	0	1	71	17
MUT:TRIP12:Glu1177Gly	PROT:Q14669	TRIP12	E	1177	G	E1177G	Likely benign	0	1	71	0
MUT:TRIP12:Glu2047Asp	PROT:Q14669	TRIP12	E	2047	D	E2047D	Likely benign	0	1	71	238
MUT:TRIP12:Glu2051Asp	PROT:Q14669	TRIP12	E	2051	D	E2051D	Likely benign	0	1	71	242
MUT:TRIP12:Gly185Ser	PROT:Q14669	TRIP12	G	185	S	G185S	Likely benign	0	1	71	8
MUT:TRIP12:Ile1537Val	PROT:Q14669	TRIP12	I	1537	V	I1537V	Likely benign	0	1	71	8
MUT:TRIP12:Ile30Val	PROT:Q14669	TRIP12	I	30	V	I30V	Likely benign	0	1	71	18
MUT:TRIP12:Ile826Thr	PROT:Q14669	TRIP12	I	826	T	I826T	Likely benign	0	1	71	11
MUT:TRIP12:Ile962Val	PROT:Q14669	TRIP12	I	962	V	I962V	Likely benign	0	1	71	20
MUT:TRIP12:Lys174Arg	PROT:Q14669	TRIP12	K	174	R	K174R	Likely benign	0	1	71	3
MUT:TRIP12:Pro149Ser	PROT:Q14669	TRIP12	P	149	S	P149S	Likely benign	0	1	71	28
MUT:TRIP12:Pro1705Leu	PROT:Q14669	TRIP12	P	1705	L	P1705L	Likely pathogenic	1	1	71	1
MUT:TRIP12:Pro461Ala	PROT:Q14669	TRIP12	P	461	A	P461A	Likely benign	0	1	71	37
MUT:TRIP12:Pro86Ala	PROT:Q14669	TRIP12	P	86	A	P86A	Likely benign	0	1	71	1
MUT:TRIP12:Pro88Ala	PROT:Q14669	TRIP12	P	88	A	P88A	Likely benign	0	1	71	3
MUT:TRIP12:Ser1271Tyr	PROT:Q14669	TRIP12	S	1271	Y	S1271Y	Likely benign	0	1	71	4
MUT:TRIP12:Ser240Ala	PROT:Q14669	TRIP12	S	240	A	S240A	Likely benign	0	1	71	1
MUT:TRIP12:Thr183Ala	PROT:Q14669	TRIP12	T	183	A	T183A	Likely benign	0	1	71	6
MUT:TRIP12:Thr329Ser	PROT:Q14669	TRIP12	T	329	S	T329S	Likely benign	0	1	71	0
MUT:TRIP12:Val1217Ala	PROT:Q14669	TRIP12	V	1217	A	V1217A	Likely benign	0	1	71	4
MUT:TRIP12:Val1476Met	PROT:Q14669	TRIP12	V	1476	M	V1476M	Likely benign	0	1	71	49
MUT:TRIP12:Val1552Ile	PROT:Q14669	TRIP12	V	1552	I	V1552I	Likely benign	0	1	71	23
MUT:TRIP4:Arg317Gln	PROT:Q15650	TRIP4	R	317	Q	R317Q	Pathogenic	1	1	20	10
MUT:TRIP4:Asn358Asp	PROT:Q15650	TRIP4	N	358	D	N358D	Likely benign	0	1	20	9
MUT:TRIP4:Gly410Glu	PROT:Q15650	TRIP4	G	410	E	G410E	Likely benign	0	1	20	4
MUT:TRMT10A:Arg69His	PROT:Q8TBZ6	TRMT10A	R	69	H	R69H	Benign/Likely benign	0	1	7	15
MUT:TRMT10A:Asn22Ser	PROT:Q8TBZ6	TRMT10A	N	22	S	N22S	Likely benign	0	1	7	62
MUT:TRMT10A:Gly206Arg	PROT:Q8TBZ6	TRMT10A	G	206	R	G206R	Pathogenic	1	1	7	96
MUT:TRMT10C:Thr272Ala	PROT:Q7L0Y3	TRMT10C	T	272	A	T272A	Pathogenic	1	2	15	0
MUT:TRMT1:Ala417Thr	PROT:Q9NXH9	TRMT1	A	417	T	A417T	Likely benign	0	1	17	56
MUT:TRMT1:Arg194His	PROT:Q9NXH9	TRMT1	R	194	H	R194H	Likely benign	0	1	17	8
MUT:TRMT1:Arg323Cys	PROT:Q9NXH9	TRMT1	R	323	C	R323C	Likely pathogenic	1	2	17	38
MUT:TRMT1:Asp593Gly	PROT:Q9NXH9	TRMT1	D	593	G	D593G	Likely benign	0	1	17	5
MUT:TRMT1:Gln2Arg	PROT:Q9NXH9	TRMT1	Q	2	R	Q2R	Likely benign	0	1	17	2
MUT:TRMT1:Glu46Asp	PROT:Q9NXH9	TRMT1	E	46	D	E46D	Likely benign	0	1	17	35
MUT:TRMT1:Glu505Asp	PROT:Q9NXH9	TRMT1	E	505	D	E505D	Likely benign	0	1	17	1
MUT:TRMT1:Thr240Pro	PROT:Q9NXH9	TRMT1	T	240	P	T240P	Likely benign	0	1	17	43
MUT:TRMT1:Thr628Ile	PROT:Q9NXH9	TRMT1	T	628	I	T628I	Likely benign	0	1	17	26
MUT:TRMT1:Tyr44Cys	PROT:Q9NXH9	TRMT1	Y	44	C	Y44C	Likely benign	0	1	17	33
MUT:TRMT61A:Ala222Val	PROT:Q96FX7	TRMT61A	A	222	V	A222V	Likely pathogenic	1	1	7	38
MUT:TRMU:Ala10Ser	PROT:O75648	TRMU	A	10	S	A10S	Benign/Likely benign	0	2	9	42
MUT:TRMU:Ala160Val	PROT:O75648	TRMU	A	160	V	A160V	Benign	0	1	9	14
MUT:TRMU:Ala362Thr	PROT:O75648	TRMU	A	362	T	A362T	Likely pathogenic	1	1	9	33
MUT:TRMU:Arg227Thr	PROT:O75648	TRMU	R	227	T	R227T	Pathogenic/Likely pathogenic	1	2	9	12
MUT:TRMU:Arg25Ser	PROT:O75648	TRMU	R	25	S	R25S	Benign	0	1	9	27
MUT:TRMU:Arg398Cys	PROT:O75648	TRMU	R	398	C	R398C	Benign/Likely benign	0	1	9	3
MUT:TRMU:Gln336Pro	PROT:O75648	TRMU	Q	336	P	Q336P	Likely benign	0	1	9	50
MUT:TRMU:Glu148Lys	PROT:O75648	TRMU	E	148	K	E148K	Benign	0	1	9	2
MUT:TRMU:Gly272Asp	PROT:O75648	TRMU	G	272	D	G272D	Pathogenic	1	1	9	14
MUT:TRMU:Ile189Met	PROT:O75648	TRMU	I	189	M	I189M	Benign/Likely benign	0	1	9	26
MUT:TRMU:Ile224Ser	PROT:O75648	TRMU	I	224	S	I224S	Likely pathogenic	1	1	9	9
MUT:TRMU:Leu233Phe	PROT:O75648	TRMU	L	233	F	L233F	Likely pathogenic	1	1	9	18
MUT:TRMU:Leu253Pro	PROT:O75648	TRMU	L	253	P	L253P	Likely pathogenic	1	1	9	33
MUT:TRMU:Leu304Val	PROT:O75648	TRMU	L	304	V	L304V	Benign/Likely benign	0	2	9	18
MUT:TRMU:Leu4Val	PROT:O75648	TRMU	L	4	V	L4V	Benign/Likely benign	0	1	9	48
MUT:TRMU:Lys146Arg	PROT:O75648	TRMU	K	146	R	K146R	Likely benign	0	1	9	0
MUT:TRMU:Lys91Arg	PROT:O75648	TRMU	K	91	R	K91R	Benign	0	1	9	0
MUT:TRMU:Met1Arg	PROT:O75648	TRMU	M	1	R	M1R	Pathogenic/Likely pathogenic	1	1	9	51
MUT:TRMU:Met1Lys	PROT:O75648	TRMU	M	1	K	M1K	Pathogenic	1	1	9	51
MUT:TRMU:Phe82Val	PROT:O75648	TRMU	F	82	V	F82V	Likely pathogenic	1	1	9	9
MUT:TRMU:Ser218Ile	PROT:O75648	TRMU	S	218	I	S218I	Likely pathogenic	1	1	9	3
MUT:TRMU:Ser72Phe	PROT:O75648	TRMU	S	72	F	S72F	Likely pathogenic	1	1	9	19
MUT:TRMU:Thr404Ile	PROT:O75648	TRMU	T	404	I	T404I	Likely benign	0	1	9	9
MUT:TRMU:Tyr77His	PROT:O75648	TRMU	Y	77	H	Y77H	Pathogenic/Likely pathogenic	1	3	9	14
MUT:TRMU:Val279Met	PROT:O75648	TRMU	V	279	M	V279M	Pathogenic	1	2	9	7
MUT:TRMU:Val370Met	PROT:O75648	TRMU	V	370	M	V370M	Likely pathogenic	1	1	9	25
MUT:TRO:Gly1369Ser	PROT:Q12816	TRO	G	1369	S	G1369S	Likely benign	0	1	15	736
MUT:TRPA1:Arg996Cys	PROT:O75762	TRPA1	R	996	C	R996C	Benign	0	1	10	24
MUT:TRPA1:Asn855Ser	PROT:O75762	TRPA1	N	855	S	N855S	Pathogenic	1	1	10	117
MUT:TRPA1:Glu179Lys	PROT:O75762	TRPA1	E	179	K	E179K	Benign	0	1	10	66
MUT:TRPA1:His1018Arg	PROT:O75762	TRPA1	H	1018	R	H1018R	Benign	0	2	10	46
MUT:TRPA1:Lys186Asn	PROT:O75762	TRPA1	K	186	N	K186N	Benign	0	1	10	73
MUT:TRPC1:Ile216Met	PROT:P48995	TRPC1	I	216	M	I216M	Likely benign	0	1	2	10
MUT:TRPC6:Ala404Val	PROT:Q9Y210	TRPC6	A	404	V	A404V	Benign	0	2	14	122
MUT:TRPC6:Arg175Gln	PROT:Q9Y210	TRPC6	R	175	Q	R175Q	Likely pathogenic	1	1	14	4
MUT:TRPC6:Arg175Trp	PROT:Q9Y210	TRPC6	R	175	W	R175W	Pathogenic/Likely pathogenic	1	3	14	4
MUT:TRPC6:Arg215Gln	PROT:Q9Y210	TRPC6	R	215	Q	R215Q	Likely pathogenic	1	2	14	44
MUT:TRPC6:Arg68Gln	PROT:Q9Y210	TRPC6	R	68	Q	R68Q	Likely benign	0	1	14	2
MUT:TRPC6:Arg895Cys	PROT:Q9Y210	TRPC6	R	895	C	R895C	Pathogenic	1	3	14	1
MUT:TRPC6:Arg895Leu	PROT:Q9Y210	TRPC6	R	895	L	R895L	Pathogenic	1	3	14	1
MUT:TRPC6:Arg91His	PROT:Q9Y210	TRPC6	R	91	H	R91H	Likely benign	0	1	14	21
MUT:TRPC6:Asn302Ser	PROT:Q9Y210	TRPC6	N	302	S	N302S	Likely benign	0	1	14	20
MUT:TRPC6:Asn765Ser	PROT:Q9Y210	TRPC6	N	765	S	N765S	Likely benign	0	2	14	6
MUT:TRPC6:Asp210Glu	PROT:Q9Y210	TRPC6	D	210	E	D210E	Likely benign	0	1	14	39
MUT:TRPC6:Asp798His	PROT:Q9Y210	TRPC6	D	798	H	D798H	Benign/Likely benign	0	1	14	13
MUT:TRPC6:Gln889Lys	PROT:Q9Y210	TRPC6	Q	889	K	Q889K	Pathogenic/Likely pathogenic	1	1	14	3
MUT:TRPC6:Glu144Gln	PROT:Q9Y210	TRPC6	E	144	Q	E144Q	Likely pathogenic	1	1	14	27
MUT:TRPC6:Glu897Lys	PROT:Q9Y210	TRPC6	E	897	K	E897K	Pathogenic/Likely pathogenic	1	1	14	1
MUT:TRPC6:Gly331Arg	PROT:Q9Y210	TRPC6	G	331	R	G331R	Likely pathogenic	1	1	14	49
MUT:TRPC6:Ile594Val	PROT:Q9Y210	TRPC6	I	594	V	I594V	Benign	0	1	14	165
MUT:TRPC6:Leu225Val	PROT:Q9Y210	TRPC6	L	225	V	L225V	Likely benign	0	1	14	45
MUT:TRPC6:Pro112Gln	PROT:Q9Y210	TRPC6	P	112	Q	P112Q	Pathogenic	1	1	14	42
MUT:TRPC6:Pro15Ser	PROT:Q9Y210	TRPC6	P	15	S	P15S	Benign	0	1	14	11
MUT:TRPC6:Val706Phe	PROT:Q9Y210	TRPC6	V	706	F	V706F	Likely benign	0	1	14	53
MUT:TRPM1:Ala717Pro	PROT:Q7Z4N2	TRPM1	A	717	P	A717P	Benign/Likely benign	0	1	5	169
MUT:TRPM1:Ala848Val	PROT:Q7Z4N2	TRPM1	A	848	V	A848V	Pathogenic/Likely pathogenic	1	1	5	38
MUT:TRPM1:Ala92Pro	PROT:Q7Z4N2	TRPM1	A	92	P	A92P	Likely pathogenic	1	1	5	331
MUT:TRPM1:Arg1327His	PROT:Q7Z4N2	TRPM1	R	1327	H	R1327H	Benign	0	1	5	103
MUT:TRPM1:Arg1444Cys	PROT:Q7Z4N2	TRPM1	R	1444	C	R1444C	Benign/Likely benign	0	1	5	220
MUT:TRPM1:Arg1444Gly	PROT:Q7Z4N2	TRPM1	R	1444	G	R1444G	Benign	0	1	5	220
MUT:TRPM1:Arg1501His	PROT:Q7Z4N2	TRPM1	R	1501	H	R1501H	Benign/Likely benign	0	1	5	277
MUT:TRPM1:Arg646Cys	PROT:Q7Z4N2	TRPM1	R	646	C	R646C	Likely pathogenic	1	1	5	154
MUT:TRPM1:Arg950Gln	PROT:Q7Z4N2	TRPM1	R	950	Q	R950Q	Pathogenic/Likely pathogenic	1	1	5	64
MUT:TRPM1:Asn1251Thr	PROT:Q7Z4N2	TRPM1	N	1251	T	N1251T	Benign	0	1	5	27
MUT:TRPM1:Asp1058Glu	PROT:Q7Z4N2	TRPM1	D	1058	E	D1058E	Likely pathogenic	1	1	5	166
MUT:TRPM1:Cys1052Tyr	PROT:Q7Z4N2	TRPM1	C	1052	Y	C1052Y	Likely pathogenic	1	1	5	166
MUT:TRPM1:Gln1183His	PROT:Q7Z4N2	TRPM1	Q	1183	H	Q1183H	Likely benign	0	1	5	41
MUT:TRPM1:Glu1303Gln	PROT:Q7Z4N2	TRPM1	E	1303	Q	E1303Q	Likely benign	0	1	5	79
MUT:TRPM1:Glu1303Lys	PROT:Q7Z4N2	TRPM1	E	1303	K	E1303K	Benign/Likely benign	0	3	5	79
MUT:TRPM1:Gly127Glu	PROT:Q7Z4N2	TRPM1	G	127	E	G127E	Likely pathogenic	1	1	5	296
MUT:TRPM1:Gly194Cys	PROT:Q7Z4N2	TRPM1	G	194	C	G194C	Likely pathogenic	1	1	5	229
MUT:TRPM1:Gly278Arg	PROT:Q7Z4N2	TRPM1	G	278	R	G278R	Likely pathogenic	1	1	5	145
MUT:TRPM1:Gly448Arg	PROT:Q7Z4N2	TRPM1	G	448	R	G448R	Benign	0	1	5	24
MUT:TRPM1:Gly459Val	PROT:Q7Z4N2	TRPM1	G	459	V	G459V	Benign	0	1	5	33
MUT:TRPM1:His1520Gln	PROT:Q7Z4N2	TRPM1	H	1520	Q	H1520Q	Benign	0	1	5	296
MUT:TRPM1:Ile195Met	PROT:Q7Z4N2	TRPM1	I	195	M	I195M	Likely benign	0	1	5	228
MUT:TRPM1:Ile474Leu	PROT:Q7Z4N2	TRPM1	I	474	L	I474L	Likely benign	0	1	5	18
MUT:TRPM1:Leu258Pro	PROT:Q7Z4N2	TRPM1	L	258	P	L258P	Likely pathogenic	1	1	5	165
MUT:TRPM1:Leu779Pro	PROT:Q7Z4N2	TRPM1	L	779	P	L779P	Likely pathogenic	1	1	5	107
MUT:TRPM1:Met23Thr	PROT:Q7Z4N2	TRPM1	M	23	T	M23T	Benign	0	1	5	400
MUT:TRPM1:Met487Lys	PROT:Q7Z4N2	TRPM1	M	487	K	M487K	Likely pathogenic	1	1	5	5
MUT:TRPM1:Met995Thr	PROT:Q7Z4N2	TRPM1	M	995	T	M995T	Likely pathogenic	1	1	5	109
MUT:TRPM1:Pro1401Thr	PROT:Q7Z4N2	TRPM1	P	1401	T	P1401T	Benign	0	1	5	177
MUT:TRPM1:Pro421Thr	PROT:Q7Z4N2	TRPM1	P	421	T	P421T	Benign/Likely benign	0	1	5	2
MUT:TRPM1:Pro429Thr	PROT:Q7Z4N2	TRPM1	P	429	T	P429T	Benign/Likely benign	0	2	5	5
MUT:TRPM1:Ser54Asn	PROT:Q7Z4N2	TRPM1	S	54	N	S54N	Benign	0	1	5	369
MUT:TRPM1:Thr1313Met	PROT:Q7Z4N2	TRPM1	T	1313	M	T1313M	Benign	0	1	5	89
MUT:TRPM1:Thr1336Met	PROT:Q7Z4N2	TRPM1	T	1336	M	T1336M	Benign	0	1	5	112
MUT:TRPM1:Thr1450Met	PROT:Q7Z4N2	TRPM1	T	1450	M	T1450M	Likely benign	0	1	5	226
MUT:TRPM1:Val1417Ile	PROT:Q7Z4N2	TRPM1	V	1417	I	V1417I	Benign	0	1	5	193
MUT:TRPM1:Val1582Met	PROT:Q7Z4N2	TRPM1	V	1582	M	V1582M	Benign/Likely benign	0	1	5	358
MUT:TRPM1:Val627Met	PROT:Q7Z4N2	TRPM1	V	627	M	V627M	Benign	0	1	5	135
MUT:TRPM2:Ala890Val	PROT:O94759	TRPM2	A	890	V	A890V	Benign	0	2	15	187
MUT:TRPM2:Asn1249Ser	PROT:O94759	TRPM2	N	1249	S	N1249S	Benign/Likely benign	0	1	15	81
MUT:TRPM2:Ile641Met	PROT:O94759	TRPM2	I	641	M	I641M	Benign/Likely benign	0	1	15	28
MUT:TRPM4:Ala101Thr	PROT:Q8TD43	TRPM4	A	101	T	A101T	Benign/Likely benign	0	2	15	3
MUT:TRPM4:Arg108Cys	PROT:Q8TD43	TRPM4	R	108	C	R108C	Benign/Likely benign	0	1	15	4
MUT:TRPM4:Arg518Gly	PROT:Q8TD43	TRPM4	R	518	G	R518G	Likely benign	0	1	15	26
MUT:TRPM4:Arg719Gln	PROT:Q8TD43	TRPM4	R	719	Q	R719Q	Likely benign	0	2	15	120
MUT:TRPM4:Asp561Ala	PROT:Q8TD43	TRPM4	D	561	A	D561A	Benign/Likely benign	0	3	15	16
MUT:TRPM4:Asp804Asn	PROT:Q8TD43	TRPM4	D	804	N	D804N	Likely benign	0	1	15	35
MUT:TRPM4:Gln293Arg	PROT:Q8TD43	TRPM4	Q	293	R	Q293R	Likely benign	0	1	15	38
MUT:TRPM4:Glu7Lys	PROT:Q8TD43	TRPM4	E	7	K	E7K	Likely pathogenic	1	2	15	97
MUT:TRPM4:Gly843Arg	PROT:Q8TD43	TRPM4	G	843	R	G843R	Likely benign	0	1	15	4
MUT:TRPM4:Ile1033Met	PROT:Q8TD43	TRPM4	I	1033	M	I1033M	Pathogenic	1	1	15	26
MUT:TRPM4:Ile1040Thr	PROT:Q8TD43	TRPM4	I	1040	T	I1040T	Pathogenic/Likely pathogenic	1	2	15	19
MUT:TRPM4:Ile376Thr	PROT:Q8TD43	TRPM4	I	376	T	I376T	Pathogenic/Likely pathogenic	1	1	15	107
MUT:TRPM4:Lys1129Asn	PROT:Q8TD43	TRPM4	K	1129	N	K1129N	Likely benign	0	1	15	0
MUT:TRPM4:Lys914Arg	PROT:Q8TD43	TRPM4	K	914	R	K914R	Pathogenic	1	1	15	75
MUT:TRPM4:Met284Leu	PROT:Q8TD43	TRPM4	M	284	L	M284L	Likely benign	0	1	15	29
MUT:TRPM4:Pro700Thr	PROT:Q8TD43	TRPM4	P	700	T	P700T	Likely benign	0	1	15	123
MUT:TRPM4:Pro750Leu	PROT:Q8TD43	TRPM4	P	750	L	P750L	Likely benign	0	1	15	89
MUT:TRPM4:Pro845Leu	PROT:Q8TD43	TRPM4	P	845	L	P845L	Likely benign	0	1	15	6
MUT:TRPM4:Ser1143Gly	PROT:Q8TD43	TRPM4	S	1143	G	S1143G	Benign/Likely benign	0	1	15	2
MUT:TRPM4:Ser481Cys	PROT:Q8TD43	TRPM4	S	481	C	S481C	Benign/Likely benign	0	1	15	2
MUT:TRPM4:Ser834Arg	PROT:Q8TD43	TRPM4	S	834	R	S834R	Likely benign	0	1	15	5
MUT:TRPM6:Arg1772Gln	PROT:Q9BX84	TRPM6	R	1772	Q	R1772Q	Likely benign	0	1	8	16
MUT:TRPM6:Asn1528Ser	PROT:Q9BX84	TRPM6	N	1528	S	N1528S	Likely benign	0	1	8	35
MUT:TRPM6:Asp252Glu	PROT:Q9BX84	TRPM6	D	252	E	D252E	Likely pathogenic	1	1	8	111
MUT:TRPM6:Gln1274Arg	PROT:Q9BX84	TRPM6	Q	1274	R	Q1274R	Benign	0	1	8	129
MUT:TRPM6:Gln1663Arg	PROT:Q9BX84	TRPM6	Q	1663	R	Q1663R	Benign/Likely benign	0	1	8	93
MUT:TRPM6:Gln548Arg	PROT:Q9BX84	TRPM6	Q	548	R	Q548R	Likely benign	0	1	8	407
MUT:TRPM6:Glu1511Asp	PROT:Q9BX84	TRPM6	E	1511	D	E1511D	Likely benign	0	1	8	52
MUT:TRPM6:Gly171Arg	PROT:Q9BX84	TRPM6	G	171	R	G171R	Benign/Likely benign	0	2	8	30
MUT:TRPM6:Gly484Arg	PROT:Q9BX84	TRPM6	G	484	R	G484R	Benign	0	1	8	343
MUT:TRPM6:His547Tyr	PROT:Q9BX84	TRPM6	H	547	Y	H547Y	Benign	0	1	8	406
MUT:TRPM6:Lys1584Glu	PROT:Q9BX84	TRPM6	K	1584	E	K1584E	Benign	0	1	8	21
MUT:TRPM6:Met1162Ile	PROT:Q9BX84	TRPM6	M	1162	I	M1162I	Benign	0	1	8	17
MUT:TRPM6:Met338Ile	PROT:Q9BX84	TRPM6	M	338	I	M338I	Benign/Likely benign	0	3	8	197
MUT:TRPM6:Phe1632Leu	PROT:Q9BX84	TRPM6	F	1632	L	F1632L	Likely benign	0	2	8	69
MUT:TRPM6:Pro208Thr	PROT:Q9BX84	TRPM6	P	208	T	P208T	Likely benign	0	1	8	67
MUT:TRPM6:Ser141Leu	PROT:Q9BX84	TRPM6	S	141	L	S141L	Pathogenic	1	1	8	0
MUT:TRPM6:Ser784Gly	PROT:Q9BX84	TRPM6	S	784	G	S784G	Likely benign	0	1	8	216
MUT:TRPM6:Ser90Cys	PROT:Q9BX84	TRPM6	S	90	C	S90C	Benign/Likely benign	0	1	8	12
MUT:TRPM6:Tyr1053Cys	PROT:Q9BX84	TRPM6	Y	1053	C	Y1053C	Pathogenic	1	1	8	53
MUT:TRPM6:Tyr832Cys	PROT:Q9BX84	TRPM6	Y	832	C	Y832C	Likely pathogenic	1	1	8	168
MUT:TRPM6:Val1327Ala	PROT:Q9BX84	TRPM6	V	1327	A	V1327A	Likely benign	0	1	8	182
MUT:TRPM6:Val1393Ile	PROT:Q9BX84	TRPM6	V	1393	I	V1393I	Benign	0	1	8	170
MUT:TRPM8:Asn821Ser	PROT:Q7Z2W7	TRPM8	N	821	S	N821S	Benign	0	3	3	201
MUT:TRPS1:Ala661Val	PROT:Q9UHF7	TRPS1	A	661	V	A661V	Likely benign	0	1	48	6
MUT:TRPS1:Ala885Val	PROT:Q9UHF7	TRPS1	A	885	V	A885V	Likely benign	0	1	48	1
MUT:TRPS1:Ala932Thr	PROT:Q9UHF7	TRPS1	A	932	T	A932T	Pathogenic/Likely pathogenic	1	1	48	9
MUT:TRPS1:Ala932Val	PROT:Q9UHF7	TRPS1	A	932	V	A932V	Pathogenic	1	3	48	9
MUT:TRPS1:Arg921Gln	PROT:Q9UHF7	TRPS1	R	921	Q	R921Q	Pathogenic	1	2	48	16
MUT:TRPS1:Arg921Pro	PROT:Q9UHF7	TRPS1	R	921	P	R921P	Likely pathogenic	1	1	48	16
MUT:TRPS1:Arg965Cys	PROT:Q9UHF7	TRPS1	R	965	C	R965C	Pathogenic	1	1	48	18
MUT:TRPS1:Arg965His	PROT:Q9UHF7	TRPS1	R	965	H	R965H	Pathogenic/Likely pathogenic	1	1	48	18
MUT:TRPS1:Asn222Ser	PROT:Q9UHF7	TRPS1	N	222	S	N222S	Benign/Likely benign	0	1	48	7
MUT:TRPS1:Asp486Asn	PROT:Q9UHF7	TRPS1	D	486	N	D486N	Benign	0	1	48	6
MUT:TRPS1:Cys1233Tyr	PROT:Q9UHF7	TRPS1	C	1233	Y	C1233Y	Likely pathogenic	1	1	48	135
MUT:TRPS1:Cys348Phe	PROT:Q9UHF7	TRPS1	C	348	F	C348F	Likely pathogenic	1	1	48	34
MUT:TRPS1:Cys909Tyr	PROT:Q9UHF7	TRPS1	C	909	Y	C909Y	Pathogenic	1	1	48	4
MUT:TRPS1:Cys933Tyr	PROT:Q9UHF7	TRPS1	C	933	Y	C933Y	Likely pathogenic	1	1	48	8
MUT:TRPS1:Glu57Gly	PROT:Q9UHF7	TRPS1	E	57	G	E57G	Benign/Likely benign	0	1	48	30
MUT:TRPS1:His1005Gln	PROT:Q9UHF7	TRPS1	H	1005	Q	H1005Q	Benign/Likely benign	0	1	48	14
MUT:TRPS1:His1246Gln	PROT:Q9UHF7	TRPS1	H	1246	Q	H1246Q	Likely pathogenic	1	1	48	148
MUT:TRPS1:His1246Leu	PROT:Q9UHF7	TRPS1	H	1246	L	H1246L	Likely pathogenic	1	1	48	148
MUT:TRPS1:Leu919Pro	PROT:Q9UHF7	TRPS1	L	919	P	L919P	Likely pathogenic	1	1	48	14
MUT:TRPS1:Leu919Val	PROT:Q9UHF7	TRPS1	L	919	V	L919V	Pathogenic/Likely pathogenic	1	1	48	14
MUT:TRPS1:Lys547Arg	PROT:Q9UHF7	TRPS1	K	547	R	K547R	Likely benign	0	1	48	39
MUT:TRPS1:Lys922Glu	PROT:Q9UHF7	TRPS1	K	922	E	K922E	Likely pathogenic	1	1	48	17
MUT:TRPS1:Met152Thr	PROT:Q9UHF7	TRPS1	M	152	T	M152T	Benign	0	1	48	3
MUT:TRPS1:Ser515Leu	PROT:Q9UHF7	TRPS1	S	515	L	S515L	Benign/Likely benign	0	1	48	23
MUT:TRPS1:Ser606Phe	PROT:Q9UHF7	TRPS1	S	606	F	S606F	Likely pathogenic	1	1	48	20
MUT:TRPS1:Thr119Ser	PROT:Q9UHF7	TRPS1	T	119	S	T119S	Likely benign	0	1	48	7
MUT:TRPS1:Thr914Pro	PROT:Q9UHF7	TRPS1	T	914	P	T914P	Pathogenic	1	1	48	9
MUT:TRPS1:Val1068Ile	PROT:Q9UHF7	TRPS1	V	1068	I	V1068I	Likely benign	0	1	48	1
MUT:TRPV6:Ala733Thr	PROT:Q9H1D0	TRPV6	A	733	T	A733T	Likely benign	0	1	7	1
MUT:TRPV6:Arg425Gln	PROT:Q9H1D0	TRPV6	R	425	Q	R425Q	Likely pathogenic	1	1	7	237
MUT:TRPV6:Arg483Trp	PROT:Q9H1D0	TRPV6	R	483	W	R483W	Likely pathogenic	1	1	7	245
MUT:TRPV6:Arg661Trp	PROT:Q9H1D0	TRPV6	R	661	W	R661W	Benign	0	1	7	67
MUT:TRPV6:Arg66Gln	PROT:Q9H1D0	TRPV6	R	66	Q	R66Q	Likely benign	0	1	7	118
MUT:TRPV6:Cys197Arg	PROT:Q9H1D0	TRPV6	C	197	R	C197R	Benign	0	1	7	9
MUT:TRPV6:Cys212Tyr	PROT:Q9H1D0	TRPV6	C	212	Y	C212Y	Likely pathogenic	1	1	7	24
MUT:TRPV6:Gly451Glu	PROT:Q9H1D0	TRPV6	G	451	E	G451E	Pathogenic/Likely pathogenic	1	1	7	263
MUT:TRPV6:Met418Val	PROT:Q9H1D0	TRPV6	M	418	V	M418V	Benign	0	1	7	230
MUT:TRPV6:Met721Thr	PROT:Q9H1D0	TRPV6	M	721	T	M721T	Benign	0	1	7	7
MUT:TRPV6:Thr306Ile	PROT:Q9H1D0	TRPV6	T	306	I	T306I	Likely benign	0	1	7	118
MUT:TRPV6:Tyr549Cys	PROT:Q9H1D0	TRPV6	Y	549	C	Y549C	Likely pathogenic	1	1	7	179
MUT:TSC2:Ala1141Thr	PROT:P49815	TSC2	A	1141	T	A1141T	Benign/Likely benign	0	3	102	9
MUT:TSC2:Ala1141Val	PROT:P49815	TSC2	A	1141	V	A1141V	Benign/Likely benign	0	3	102	9
MUT:TSC2:Ala1164Ser	PROT:P49815	TSC2	A	1164	S	A1164S	Benign/Likely benign	0	4	102	4
MUT:TSC2:Ala1164Thr	PROT:P49815	TSC2	A	1164	T	A1164T	Benign/Likely benign	0	2	102	4
MUT:TSC2:Ala1257Val	PROT:P49815	TSC2	A	1257	V	A1257V	Benign/Likely benign	0	3	102	2
MUT:TSC2:Ala1261Val	PROT:P49815	TSC2	A	1261	V	A1261V	Benign	0	1	102	1
MUT:TSC2:Ala1323Val	PROT:P49815	TSC2	A	1323	V	A1323V	Benign/Likely benign	0	4	102	7
MUT:TSC2:Ala1349Thr	PROT:P49815	TSC2	A	1349	T	A1349T	Benign/Likely benign	0	4	102	3
MUT:TSC2:Ala1429Ser	PROT:P49815	TSC2	A	1429	S	A1429S	Benign/Likely benign	0	4	102	2
MUT:TSC2:Ala1432Thr	PROT:P49815	TSC2	A	1432	T	A1432T	Benign	0	1	102	5
MUT:TSC2:Ala145Thr	PROT:P49815	TSC2	A	145	T	A145T	Benign/Likely benign	0	3	102	1
MUT:TSC2:Ala1479Val	PROT:P49815	TSC2	A	1479	V	A1479V	Benign/Likely benign	0	3	102	13
MUT:TSC2:Ala1722Asp	PROT:P49815	TSC2	A	1722	D	A1722D	Likely pathogenic	1	1	102	8
MUT:TSC2:Ala1722Pro	PROT:P49815	TSC2	A	1722	P	A1722P	Likely pathogenic	1	2	102	8
MUT:TSC2:Ala1759Thr	PROT:P49815	TSC2	A	1759	T	A1759T	Benign/Likely benign	0	4	102	1
MUT:TSC2:Ala1778Glu	PROT:P49815	TSC2	A	1778	E	A1778E	Benign	0	1	102	2
MUT:TSC2:Ala196Thr	PROT:P49815	TSC2	A	196	T	A196T	Benign/Likely benign	0	4	102	52
MUT:TSC2:Ala210Thr	PROT:P49815	TSC2	A	210	T	A210T	Benign/Likely benign	0	3	102	40
MUT:TSC2:Ala272Thr	PROT:P49815	TSC2	A	272	T	A272T	Benign/Likely benign	0	4	102	14
MUT:TSC2:Ala289Val	PROT:P49815	TSC2	A	289	V	A289V	Benign/Likely benign	0	4	102	31
MUT:TSC2:Ala2Ser	PROT:P49815	TSC2	A	2	S	A2S	Benign	0	1	102	1
MUT:TSC2:Ala431Val	PROT:P49815	TSC2	A	431	V	A431V	Benign/Likely benign	0	5	102	7
MUT:TSC2:Ala460Thr	PROT:P49815	TSC2	A	460	T	A460T	Benign/Likely benign	0	3	102	22
MUT:TSC2:Ala508Asp	PROT:P49815	TSC2	A	508	D	A508D	Likely pathogenic	1	1	102	32
MUT:TSC2:Ala583Thr	PROT:P49815	TSC2	A	583	T	A583T	Benign/Likely benign	0	3	102	19
MUT:TSC2:Ala607Thr	PROT:P49815	TSC2	A	607	T	A607T	Benign/Likely benign	0	3	102	1
MUT:TSC2:Ala614Asp	PROT:P49815	TSC2	A	614	D	A614D	Pathogenic	1	2	102	6
MUT:TSC2:Ala614Pro	PROT:P49815	TSC2	A	614	P	A614P	Pathogenic	1	1	102	6
MUT:TSC2:Ala623Val	PROT:P49815	TSC2	A	623	V	A623V	Benign/Likely benign	0	1	102	11
MUT:TSC2:Ala673Val	PROT:P49815	TSC2	A	673	V	A673V	Benign/Likely benign	0	4	102	9
MUT:TSC2:Ala678Thr	PROT:P49815	TSC2	A	678	T	A678T	Benign/Likely benign	0	4	102	14
MUT:TSC2:Ala736Val	PROT:P49815	TSC2	A	736	V	A736V	Benign/Likely benign	0	2	102	32
MUT:TSC2:Ala86Glu	PROT:P49815	TSC2	A	86	E	A86E	Benign	0	1	102	14
MUT:TSC2:Ala870Pro	PROT:P49815	TSC2	A	870	P	A870P	Likely pathogenic	1	1	102	44
MUT:TSC2:Ala889Pro	PROT:P49815	TSC2	A	889	P	A889P	Likely pathogenic	1	2	102	25
MUT:TSC2:Ala889Val	PROT:P49815	TSC2	A	889	V	A889V	Pathogenic/Likely pathogenic	1	3	102	25
MUT:TSC2:Arg1032Pro	PROT:P49815	TSC2	R	1032	P	R1032P	Pathogenic/Likely pathogenic	1	2	102	11
MUT:TSC2:Arg1044Lys	PROT:P49815	TSC2	R	1044	K	R1044K	Pathogenic	1	2	102	1
MUT:TSC2:Arg1044Thr	PROT:P49815	TSC2	R	1044	T	R1044T	Pathogenic	1	1	102	1
MUT:TSC2:Arg1122Cys	PROT:P49815	TSC2	R	1122	C	R1122C	Benign/Likely benign	0	3	102	8
MUT:TSC2:Arg1138Gln	PROT:P49815	TSC2	R	1138	Q	R1138Q	Benign/Likely benign	0	3	102	6
MUT:TSC2:Arg1159Trp	PROT:P49815	TSC2	R	1159	W	R1159W	Benign/Likely benign	0	4	102	4
MUT:TSC2:Arg1174Trp	PROT:P49815	TSC2	R	1174	W	R1174W	Benign/Likely benign	0	3	102	6
MUT:TSC2:Arg1200Gly	PROT:P49815	TSC2	R	1200	G	R1200G	Likely pathogenic	1	1	102	3
MUT:TSC2:Arg1200Trp	PROT:P49815	TSC2	R	1200	W	R1200W	Pathogenic	1	4	102	3
MUT:TSC2:Arg1268His	PROT:P49815	TSC2	R	1268	H	R1268H	Benign/Likely benign	0	3	102	1
MUT:TSC2:Arg1329His	PROT:P49815	TSC2	R	1329	H	R1329H	Benign/Likely benign	0	4	102	1
MUT:TSC2:Arg1438Pro	PROT:P49815	TSC2	R	1438	P	R1438P	Benign	0	1	102	9
MUT:TSC2:Arg1713His	PROT:P49815	TSC2	R	1713	H	R1713H	Pathogenic/Likely pathogenic	1	3	102	9
MUT:TSC2:Arg1713Pro	PROT:P49815	TSC2	R	1713	P	R1713P	Likely pathogenic	1	2	102	9
MUT:TSC2:Arg1743Gln	PROT:P49815	TSC2	R	1743	Q	R1743Q	Pathogenic/Likely pathogenic	1	4	102	4
MUT:TSC2:Arg1743Gly	PROT:P49815	TSC2	R	1743	G	R1743G	Likely pathogenic	1	2	102	4
MUT:TSC2:Arg1743Leu	PROT:P49815	TSC2	R	1743	L	R1743L	Likely pathogenic	1	2	102	4
MUT:TSC2:Arg1743Pro	PROT:P49815	TSC2	R	1743	P	R1743P	Pathogenic	1	2	102	4
MUT:TSC2:Arg1743Trp	PROT:P49815	TSC2	R	1743	W	R1743W	Pathogenic	1	5	102	4
MUT:TSC2:Arg1793Gln	PROT:P49815	TSC2	R	1793	Q	R1793Q	Benign/Likely benign	0	3	102	5
MUT:TSC2:Arg1795Cys	PROT:P49815	TSC2	R	1795	C	R1795C	Benign/Likely benign	0	5	102	3
MUT:TSC2:Arg208Gln	PROT:P49815	TSC2	R	208	Q	R208Q	Benign/Likely benign	0	3	102	42
MUT:TSC2:Arg261Leu	PROT:P49815	TSC2	R	261	L	R261L	Likely benign	0	1	102	3
MUT:TSC2:Arg261Trp	PROT:P49815	TSC2	R	261	W	R261W	Benign/Likely benign	0	5	102	3
MUT:TSC2:Arg367Gln	PROT:P49815	TSC2	R	367	Q	R367Q	Benign	0	3	102	36
MUT:TSC2:Arg381Gly	PROT:P49815	TSC2	R	381	G	R381G	Benign	0	1	102	22
MUT:TSC2:Arg454Lys	PROT:P49815	TSC2	R	454	K	R454K	Likely pathogenic	1	1	102	16
MUT:TSC2:Arg537Cys	PROT:P49815	TSC2	R	537	C	R537C	Benign/Likely benign	0	4	102	3
MUT:TSC2:Arg611Gln	PROT:P49815	TSC2	R	611	Q	R611Q	Pathogenic/Likely pathogenic	1	4	102	3
MUT:TSC2:Arg611Gly	PROT:P49815	TSC2	R	611	G	R611G	Pathogenic	1	2	102	3
MUT:TSC2:Arg611Trp	PROT:P49815	TSC2	R	611	W	R611W	Pathogenic	1	4	102	3
MUT:TSC2:Arg622Trp	PROT:P49815	TSC2	R	622	W	R622W	Pathogenic/Likely pathogenic	1	4	102	12
MUT:TSC2:Arg905Gln	PROT:P49815	TSC2	R	905	Q	R905Q	Pathogenic/Likely pathogenic	1	4	102	9
MUT:TSC2:Arg905Gly	PROT:P49815	TSC2	R	905	G	R905G	Pathogenic	1	2	102	9
MUT:TSC2:Arg905Trp	PROT:P49815	TSC2	R	905	W	R905W	Pathogenic	1	3	102	9
MUT:TSC2:Arg988Pro	PROT:P49815	TSC2	R	988	P	R988P	Benign/Likely benign	0	3	102	7
MUT:TSC2:Asn133Thr	PROT:P49815	TSC2	N	133	T	N133T	Benign	0	1	102	5
MUT:TSC2:Asn1522Ser	PROT:P49815	TSC2	N	1522	S	N1522S	Benign/Likely benign	0	4	102	49
MUT:TSC2:Asn1564Lys	PROT:P49815	TSC2	N	1564	K	N1564K	Likely pathogenic	1	1	102	7
MUT:TSC2:Asn1643His	PROT:P49815	TSC2	N	1643	H	N1643H	Pathogenic	1	1	102	4
MUT:TSC2:Asn1643Ser	PROT:P49815	TSC2	N	1643	S	N1643S	Likely pathogenic	1	2	102	4
MUT:TSC2:Asn1651His	PROT:P49815	TSC2	N	1651	H	N1651H	Likely pathogenic	1	1	102	1
MUT:TSC2:Asn1651Ser	PROT:P49815	TSC2	N	1651	S	N1651S	Pathogenic	1	3	102	1
MUT:TSC2:Asn1667Ser	PROT:P49815	TSC2	N	1667	S	N1667S	Likely benign	0	1	102	9
MUT:TSC2:Asn1681Lys	PROT:P49815	TSC2	N	1681	K	N1681K	Pathogenic	1	2	102	3
MUT:TSC2:Asn1731Ser	PROT:P49815	TSC2	N	1731	S	N1731S	Benign	0	1	102	1
MUT:TSC2:Asn248Ile	PROT:P49815	TSC2	N	248	I	N248I	Benign	0	1	102	2
MUT:TSC2:Asn525Ser	PROT:P49815	TSC2	N	525	S	N525S	Benign/Likely benign	0	3	102	15
MUT:TSC2:Asn56Ser	PROT:P49815	TSC2	N	56	S	N56S	Benign/Likely benign	0	5	102	13
MUT:TSC2:Asn633Ser	PROT:P49815	TSC2	N	633	S	N633S	Benign/Likely benign	0	2	102	1
MUT:TSC2:Asn958Ser	PROT:P49815	TSC2	N	958	S	N958S	Benign/Likely benign	0	3	102	2
MUT:TSC2:Asp1013Asn	PROT:P49815	TSC2	D	1013	N	D1013N	Likely benign	0	3	102	14
MUT:TSC2:Asp1028Asn	PROT:P49815	TSC2	D	1028	N	D1028N	Likely pathogenic	1	2	102	15
MUT:TSC2:Asp1028Gly	PROT:P49815	TSC2	D	1028	G	D1028G	Likely pathogenic	1	2	102	15
MUT:TSC2:Asp1028Val	PROT:P49815	TSC2	D	1028	V	D1028V	Likely pathogenic	1	1	102	15
MUT:TSC2:Asp162Glu	PROT:P49815	TSC2	D	162	E	D162E	Likely benign	0	1	102	18
MUT:TSC2:Asp1644Asn	PROT:P49815	TSC2	D	1644	N	D1644N	Likely benign	0	3	102	3
MUT:TSC2:Asp1644Tyr	PROT:P49815	TSC2	D	1644	Y	D1644Y	Pathogenic	1	1	102	3
MUT:TSC2:Asp1652Glu	PROT:P49815	TSC2	D	1652	E	D1652E	Benign	0	1	102	1
MUT:TSC2:Asp1656Asn	PROT:P49815	TSC2	D	1656	N	D1656N	Benign	0	1	102	2
MUT:TSC2:Asp1656Tyr	PROT:P49815	TSC2	D	1656	Y	D1656Y	Pathogenic	1	1	102	2
MUT:TSC2:Asp1690His	PROT:P49815	TSC2	D	1690	H	D1690H	Pathogenic	1	2	102	1
MUT:TSC2:Asp1690Tyr	PROT:P49815	TSC2	D	1690	Y	D1690Y	Pathogenic	1	2	102	1
MUT:TSC2:Asp1696His	PROT:P49815	TSC2	D	1696	H	D1696H	Benign	0	1	102	5
MUT:TSC2:Asp282Asn	PROT:P49815	TSC2	D	282	N	D282N	Benign	0	1	102	24
MUT:TSC2:Asp416Gly	PROT:P49815	TSC2	D	416	G	D416G	Benign	0	1	102	9
MUT:TSC2:Asp731His	PROT:P49815	TSC2	D	731	H	D731H	Benign	0	1	102	27
MUT:TSC2:Asp781Asn	PROT:P49815	TSC2	D	781	N	D781N	Benign	0	1	102	77
MUT:TSC2:Asp926Asn	PROT:P49815	TSC2	D	926	N	D926N	Benign	0	1	102	1
MUT:TSC2:Cys1755Tyr	PROT:P49815	TSC2	C	1755	Y	C1755Y	Benign	0	1	102	5
MUT:TSC2:Cys244Arg	PROT:P49815	TSC2	C	244	R	C244R	Pathogenic	1	1	102	6
MUT:TSC2:Cys414Gly	PROT:P49815	TSC2	C	414	G	C414G	Pathogenic/Likely pathogenic	1	1	102	7
MUT:TSC2:Cys696Arg	PROT:P49815	TSC2	C	696	R	C696R	Likely pathogenic	1	2	102	8
MUT:TSC2:Cys696Tyr	PROT:P49815	TSC2	C	696	Y	C696Y	Pathogenic/Likely pathogenic	1	3	102	8
MUT:TSC2:Cys734Ser	PROT:P49815	TSC2	C	734	S	C734S	Likely benign	0	1	102	30
MUT:TSC2:Cys804Arg	PROT:P49815	TSC2	C	804	R	C804R	Pathogenic/Likely pathogenic	1	2	102	100
MUT:TSC2:Cys900Gly	PROT:P49815	TSC2	C	900	G	C900G	Likely pathogenic	1	1	102	14
MUT:TSC2:Cys900Tyr	PROT:P49815	TSC2	C	900	Y	C900Y	Pathogenic	1	1	102	14
MUT:TSC2:Gln1503Arg	PROT:P49815	TSC2	Q	1503	R	Q1503R	Likely pathogenic	1	1	102	37
MUT:TSC2:Gln1503His	PROT:P49815	TSC2	Q	1503	H	Q1503H	Likely pathogenic	1	2	102	37
MUT:TSC2:Gln1503Pro	PROT:P49815	TSC2	Q	1503	P	Q1503P	Pathogenic/Likely pathogenic	1	4	102	37
MUT:TSC2:Gln1554His	PROT:P49815	TSC2	Q	1554	H	Q1554H	Pathogenic/Likely pathogenic	1	3	102	17
MUT:TSC2:Gln1752His	PROT:P49815	TSC2	Q	1752	H	Q1752H	Likely benign	0	1	102	8
MUT:TSC2:Gln200His	PROT:P49815	TSC2	Q	200	H	Q200H	Likely benign	0	1	102	50
MUT:TSC2:Gln354His	PROT:P49815	TSC2	Q	354	H	Q354H	Benign	0	1	102	49
MUT:TSC2:Gln373Arg	PROT:P49815	TSC2	Q	373	R	Q373R	Likely pathogenic	1	1	102	30
MUT:TSC2:Gln443His	PROT:P49815	TSC2	Q	443	H	Q443H	Benign/Likely benign	0	2	102	5
MUT:TSC2:Gln510His	PROT:P49815	TSC2	Q	510	H	Q510H	Benign	0	1	102	30
MUT:TSC2:Gln613His	PROT:P49815	TSC2	Q	613	H	Q613H	Pathogenic	1	1	102	5
MUT:TSC2:Gln695His	PROT:P49815	TSC2	Q	695	H	Q695H	Likely benign	0	1	102	9
MUT:TSC2:Gln90His	PROT:P49815	TSC2	Q	90	H	Q90H	Benign	0	1	102	16
MUT:TSC2:Glu1167Lys	PROT:P49815	TSC2	E	1167	K	E1167K	Benign	0	1	102	1
MUT:TSC2:Glu1390Gln	PROT:P49815	TSC2	E	1390	Q	E1390Q	Benign	0	1	102	2
MUT:TSC2:Glu1426Asp	PROT:P49815	TSC2	E	1426	D	E1426D	Likely benign	0	1	102	1
MUT:TSC2:Glu1490Gly	PROT:P49815	TSC2	E	1490	G	E1490G	Benign/Likely benign	0	4	102	24
MUT:TSC2:Glu1558Lys	PROT:P49815	TSC2	E	1558	K	E1558K	Pathogenic/Likely pathogenic	1	3	102	13
MUT:TSC2:Glu254Lys	PROT:P49815	TSC2	E	254	K	E254K	Benign/Likely benign	0	3	102	4
MUT:TSC2:Glu281Asp	PROT:P49815	TSC2	E	281	D	E281D	Likely pathogenic	1	1	102	23
MUT:TSC2:Glu456Lys	PROT:P49815	TSC2	E	456	K	E456K	Benign/Likely benign	0	3	102	18
MUT:TSC2:Glu481Asp	PROT:P49815	TSC2	E	481	D	E481D	Likely pathogenic	1	1	102	43
MUT:TSC2:Glu66Gln	PROT:P49815	TSC2	E	66	Q	E66Q	Benign	0	1	102	3
MUT:TSC2:Glu75Lys	PROT:P49815	TSC2	E	75	K	E75K	Benign/Likely benign	0	4	102	3
MUT:TSC2:Glu814Lys	PROT:P49815	TSC2	E	814	K	E814K	Likely pathogenic	1	2	102	100
MUT:TSC2:Glu929Lys	PROT:P49815	TSC2	E	929	K	E929K	Likely benign	0	2	102	1
MUT:TSC2:Glu92Val	PROT:P49815	TSC2	E	92	V	E92V	Benign/Likely benign	0	5	102	14
MUT:TSC2:Gly1204Arg	PROT:P49815	TSC2	G	1204	R	G1204R	Pathogenic/Likely pathogenic	1	2	102	1
MUT:TSC2:Gly1204Glu	PROT:P49815	TSC2	G	1204	E	G1204E	Pathogenic/Likely pathogenic	1	2	102	1
MUT:TSC2:Gly1303Arg	PROT:P49815	TSC2	G	1303	R	G1303R	Benign	0	1	102	1
MUT:TSC2:Gly1399Arg	PROT:P49815	TSC2	G	1399	R	G1399R	Benign/Likely benign	0	3	102	6
MUT:TSC2:Gly1408Asp	PROT:P49815	TSC2	G	1408	D	G1408D	Pathogenic	1	1	102	3
MUT:TSC2:Gly1439Asp	PROT:P49815	TSC2	G	1439	D	G1439D	Benign/Likely benign	0	3	102	8
MUT:TSC2:Gly1494Ser	PROT:P49815	TSC2	G	1494	S	G1494S	Likely pathogenic	1	1	102	28
MUT:TSC2:Gly1567Val	PROT:P49815	TSC2	G	1567	V	G1567V	Likely pathogenic	1	1	102	4
MUT:TSC2:Gly1579Ser	PROT:P49815	TSC2	G	1579	S	G1579S	Likely pathogenic	1	2	102	6
MUT:TSC2:Gly1595Arg	PROT:P49815	TSC2	G	1595	R	G1595R	Likely pathogenic	1	3	102	10
MUT:TSC2:Gly1596Val	PROT:P49815	TSC2	G	1596	V	G1596V	Pathogenic	1	1	102	11
MUT:TSC2:Gly1642Asp	PROT:P49815	TSC2	G	1642	D	G1642D	Pathogenic	1	3	102	5
MUT:TSC2:Gly1654Ser	PROT:P49815	TSC2	G	1654	S	G1654S	Likely benign	0	2	102	1
MUT:TSC2:Gly22Arg	PROT:P49815	TSC2	G	22	R	G22R	Benign	0	1	102	1
MUT:TSC2:Gly294Arg	PROT:P49815	TSC2	G	294	R	G294R	Pathogenic	1	2	102	36
MUT:TSC2:Gly300Val	PROT:P49815	TSC2	G	300	V	G300V	Likely pathogenic	1	1	102	42
MUT:TSC2:Gly661Ser	PROT:P49815	TSC2	G	661	S	G661S	Benign/Likely benign	0	3	102	3
MUT:TSC2:Gly676Ala	PROT:P49815	TSC2	G	676	A	G676A	Likely benign	0	1	102	12
MUT:TSC2:His1620Arg	PROT:P49815	TSC2	H	1620	R	H1620R	Likely pathogenic	1	3	102	27
MUT:TSC2:His1620Pro	PROT:P49815	TSC2	H	1620	P	H1620P	Likely pathogenic	1	1	102	27
MUT:TSC2:His1620Tyr	PROT:P49815	TSC2	H	1620	Y	H1620Y	Pathogenic	1	4	102	27
MUT:TSC2:His1640Arg	PROT:P49815	TSC2	H	1640	R	H1640R	Likely pathogenic	1	2	102	7
MUT:TSC2:His1640Pro	PROT:P49815	TSC2	H	1640	P	H1640P	Likely pathogenic	1	1	102	7
MUT:TSC2:His1640Tyr	PROT:P49815	TSC2	H	1640	Y	H1640Y	Pathogenic/Likely pathogenic	1	2	102	7
MUT:TSC2:His1746Pro	PROT:P49815	TSC2	H	1746	P	H1746P	Likely pathogenic	1	1	102	7
MUT:TSC2:His385Tyr	PROT:P49815	TSC2	H	385	Y	H385Y	Benign	0	1	102	18
MUT:TSC2:His597Arg	PROT:P49815	TSC2	H	597	R	H597R	Pathogenic	1	2	102	5
MUT:TSC2:His597Tyr	PROT:P49815	TSC2	H	597	Y	H597Y	Likely pathogenic	1	2	102	5
MUT:TSC2:His600Tyr	PROT:P49815	TSC2	H	600	Y	H600Y	Benign/Likely benign	0	4	102	2
MUT:TSC2:His798Tyr	PROT:P49815	TSC2	H	798	Y	H798Y	Benign/Likely benign	0	4	102	94
MUT:TSC2:His855Gln	PROT:P49815	TSC2	H	855	Q	H855Q	Benign/Likely benign	0	2	102	59
MUT:TSC2:Ile1537Thr	PROT:P49815	TSC2	I	1537	T	I1537T	Benign/Likely benign	0	2	102	34
MUT:TSC2:Ile1648Thr	PROT:P49815	TSC2	I	1648	T	I1648T	Pathogenic/Likely pathogenic	1	2	102	1
MUT:TSC2:Ile1648Val	PROT:P49815	TSC2	I	1648	V	I1648V	Benign/Likely benign	0	2	102	1
MUT:TSC2:Ile1747Asn	PROT:P49815	TSC2	I	1747	N	I1747N	Pathogenic/Likely pathogenic	1	1	102	8
MUT:TSC2:Ile17Asn	PROT:P49815	TSC2	I	17	N	I17N	Likely benign	0	1	102	1
MUT:TSC2:Ile346Asn	PROT:P49815	TSC2	I	346	N	I346N	Likely pathogenic	1	1	102	57
MUT:TSC2:Ile346Leu	PROT:P49815	TSC2	I	346	L	I346L	Benign	0	1	102	57
MUT:TSC2:Ile39Thr	PROT:P49815	TSC2	I	39	T	I39T	Benign	0	1	102	5
MUT:TSC2:Ile463Val	PROT:P49815	TSC2	I	463	V	I463V	Benign/Likely benign	0	3	102	25
MUT:TSC2:Ile810Val	PROT:P49815	TSC2	I	810	V	I810V	Benign/Likely benign	0	2	102	104
MUT:TSC2:Ile912Thr	PROT:P49815	TSC2	I	912	T	I912T	Likely pathogenic	1	1	102	2
MUT:TSC2:Leu1027Pro	PROT:P49815	TSC2	L	1027	P	L1027P	Pathogenic	1	2	102	16
MUT:TSC2:Leu104Pro	PROT:P49815	TSC2	L	104	P	L104P	Likely pathogenic	1	1	102	2
MUT:TSC2:Leu1061Pro	PROT:P49815	TSC2	L	1061	P	L1061P	Likely pathogenic	1	2	102	3
MUT:TSC2:Leu1235Phe	PROT:P49815	TSC2	L	1235	F	L1235F	Benign	0	2	102	7
MUT:TSC2:Leu1394Pro	PROT:P49815	TSC2	L	1394	P	L1394P	Likely pathogenic	1	1	102	1
MUT:TSC2:Leu1456His	PROT:P49815	TSC2	L	1456	H	L1456H	Likely benign	0	1	102	2
MUT:TSC2:Leu1504Phe	PROT:P49815	TSC2	L	1504	F	L1504F	Benign/Likely benign	0	3	102	38
MUT:TSC2:Leu1504Pro	PROT:P49815	TSC2	L	1504	P	L1504P	Pathogenic	1	1	102	38
MUT:TSC2:Leu1548Pro	PROT:P49815	TSC2	L	1548	P	L1548P	Pathogenic	1	2	102	23
MUT:TSC2:Leu1562Pro	PROT:P49815	TSC2	L	1562	P	L1562P	Likely pathogenic	1	3	102	9
MUT:TSC2:Leu1578Pro	PROT:P49815	TSC2	L	1578	P	L1578P	Pathogenic/Likely pathogenic	1	2	102	7
MUT:TSC2:Leu1584Arg	PROT:P49815	TSC2	L	1584	R	L1584R	Likely pathogenic	1	3	102	1
MUT:TSC2:Leu1597Pro	PROT:P49815	TSC2	L	1597	P	L1597P	Pathogenic/Likely pathogenic	1	2	102	12
MUT:TSC2:Leu160Val	PROT:P49815	TSC2	L	160	V	L160V	Likely pathogenic	1	1	102	16
MUT:TSC2:Leu1682Pro	PROT:P49815	TSC2	L	1682	P	L1682P	Likely pathogenic	1	1	102	2
MUT:TSC2:Leu1694Pro	PROT:P49815	TSC2	L	1694	P	L1694P	Benign	0	1	102	5
MUT:TSC2:Leu1708Pro	PROT:P49815	TSC2	L	1708	P	L1708P	Likely pathogenic	1	2	102	4
MUT:TSC2:Leu1717Pro	PROT:P49815	TSC2	L	1717	P	L1717P	Likely pathogenic	1	2	102	13
MUT:TSC2:Leu1744Pro	PROT:P49815	TSC2	L	1744	P	L1744P	Likely pathogenic	1	1	102	5
MUT:TSC2:Leu1750Phe	PROT:P49815	TSC2	L	1750	F	L1750F	Benign	0	2	102	10
MUT:TSC2:Leu243Pro	PROT:P49815	TSC2	L	243	P	L243P	Likely pathogenic	1	1	102	7
MUT:TSC2:Leu264Pro	PROT:P49815	TSC2	L	264	P	L264P	Likely pathogenic	1	1	102	6
MUT:TSC2:Leu362Pro	PROT:P49815	TSC2	L	362	P	L362P	Pathogenic/Likely pathogenic	1	2	102	41
MUT:TSC2:Leu423Ile	PROT:P49815	TSC2	L	423	I	L423I	Benign	0	1	102	15
MUT:TSC2:Leu424Pro	PROT:P49815	TSC2	L	424	P	L424P	Benign	0	1	102	14
MUT:TSC2:Leu426Val	PROT:P49815	TSC2	L	426	V	L426V	Benign/Likely benign	0	2	102	12
MUT:TSC2:Leu466Arg	PROT:P49815	TSC2	L	466	R	L466R	Likely pathogenic	1	1	102	28
MUT:TSC2:Leu466Pro	PROT:P49815	TSC2	L	466	P	L466P	Likely pathogenic	1	2	102	28
MUT:TSC2:Leu493Val	PROT:P49815	TSC2	L	493	V	L493V	Likely pathogenic	1	3	102	47
MUT:TSC2:Leu511Phe	PROT:P49815	TSC2	L	511	F	L511F	Benign	0	1	102	29
MUT:TSC2:Leu528Pro	PROT:P49815	TSC2	L	528	P	L528P	Likely pathogenic	1	2	102	12
MUT:TSC2:Leu620Val	PROT:P49815	TSC2	L	620	V	L620V	Benign	0	1	102	12
MUT:TSC2:Leu717Arg	PROT:P49815	TSC2	L	717	R	L717R	Pathogenic	1	2	102	13
MUT:TSC2:Leu733Pro	PROT:P49815	TSC2	L	733	P	L733P	Likely pathogenic	1	2	102	29
MUT:TSC2:Leu733Val	PROT:P49815	TSC2	L	733	V	L733V	Pathogenic/Likely pathogenic	1	2	102	29
MUT:TSC2:Leu737Pro	PROT:P49815	TSC2	L	737	P	L737P	Likely pathogenic	1	1	102	33
MUT:TSC2:Leu808Ser	PROT:P49815	TSC2	L	808	S	L808S	Likely pathogenic	1	2	102	104
MUT:TSC2:Leu826Pro	PROT:P49815	TSC2	L	826	P	L826P	Pathogenic/Likely pathogenic	1	2	102	88
MUT:TSC2:Leu844Pro	PROT:P49815	TSC2	L	844	P	L844P	Pathogenic/Likely pathogenic	1	2	102	70
MUT:TSC2:Leu850Pro	PROT:P49815	TSC2	L	850	P	L850P	Pathogenic/Likely pathogenic	1	3	102	64
MUT:TSC2:Leu921Val	PROT:P49815	TSC2	L	921	V	L921V	Benign/Likely benign	0	3	102	2
MUT:TSC2:Lys1251Met	PROT:P49815	TSC2	K	1251	M	K1251M	Pathogenic	1	1	102	0
MUT:TSC2:Lys658Thr	PROT:P49815	TSC2	K	658	T	K658T	Benign/Likely benign	0	3	102	0
MUT:TSC2:Lys7Arg	PROT:P49815	TSC2	K	7	R	K7R	Benign/Likely benign	0	4	102	0
MUT:TSC2:Met1029Arg	PROT:P49815	TSC2	M	1029	R	M1029R	Likely pathogenic	1	1	102	14
MUT:TSC2:Met1030Arg	PROT:P49815	TSC2	M	1030	R	M1030R	Likely pathogenic	1	1	102	13
MUT:TSC2:Met1236Leu	PROT:P49815	TSC2	M	1236	L	M1236L	Benign	0	1	102	6
MUT:TSC2:Met1300Leu	PROT:P49815	TSC2	M	1300	L	M1300L	Likely benign	0	1	102	4
MUT:TSC2:Met1625Lys	PROT:P49815	TSC2	M	1625	K	M1625K	Likely pathogenic	1	1	102	22
MUT:TSC2:Met1Arg	PROT:P49815	TSC2	M	1	R	M1R	Likely pathogenic	1	1	102	2
MUT:TSC2:Met1Ile	PROT:P49815	TSC2	M	1	I	M1I	Likely pathogenic	1	2	102	2
MUT:TSC2:Met1Lys	PROT:P49815	TSC2	M	1	K	M1K	Likely pathogenic	1	1	102	2
MUT:TSC2:Met280Thr	PROT:P49815	TSC2	M	280	T	M280T	Likely pathogenic	1	1	102	22
MUT:TSC2:Met286Thr	PROT:P49815	TSC2	M	286	T	M286T	Benign/Likely benign	0	3	102	28
MUT:TSC2:Met286Val	PROT:P49815	TSC2	M	286	V	M286V	Benign/Likely benign	0	3	102	28
MUT:TSC2:Met649Thr	PROT:P49815	TSC2	M	649	T	M649T	Benign/Likely benign	0	4	102	9
MUT:TSC2:Phe239Cys	PROT:P49815	TSC2	F	239	C	F239C	Benign/Likely benign	0	3	102	11
MUT:TSC2:Phe897Ser	PROT:P49815	TSC2	F	897	S	F897S	Pathogenic	1	1	102	17
MUT:TSC2:Pro1092Leu	PROT:P49815	TSC2	P	1092	L	P1092L	Benign/Likely benign	0	3	102	2
MUT:TSC2:Pro1145Leu	PROT:P49815	TSC2	P	1145	L	P1145L	Benign/Likely benign	0	3	102	10
MUT:TSC2:Pro1265Leu	PROT:P49815	TSC2	P	1265	L	P1265L	Benign	0	1	102	3
MUT:TSC2:Pro1265Ser	PROT:P49815	TSC2	P	1265	S	P1265S	Benign/Likely benign	0	3	102	3
MUT:TSC2:Pro1305Leu	PROT:P49815	TSC2	P	1305	L	P1305L	Benign/Likely benign	0	3	102	1
MUT:TSC2:Pro1370Ser	PROT:P49815	TSC2	P	1370	S	P1370S	Benign/Likely benign	0	2	102	1
MUT:TSC2:Pro1412Arg	PROT:P49815	TSC2	P	1412	R	P1412R	Benign	0	1	102	1
MUT:TSC2:Pro1497Arg	PROT:P49815	TSC2	P	1497	R	P1497R	Pathogenic	1	3	102	31
MUT:TSC2:Pro1497Leu	PROT:P49815	TSC2	P	1497	L	P1497L	Pathogenic	1	1	102	31
MUT:TSC2:Pro1497Thr	PROT:P49815	TSC2	P	1497	T	P1497T	Pathogenic/Likely pathogenic	1	2	102	31
MUT:TSC2:Pro1675Arg	PROT:P49815	TSC2	P	1675	R	P1675R	Pathogenic/Likely pathogenic	1	1	102	9
MUT:TSC2:Pro1675Gln	PROT:P49815	TSC2	P	1675	Q	P1675Q	Pathogenic/Likely pathogenic	1	2	102	9
MUT:TSC2:Pro1675Leu	PROT:P49815	TSC2	P	1675	L	P1675L	Pathogenic	1	5	102	9
MUT:TSC2:Pro1675Ser	PROT:P49815	TSC2	P	1675	S	P1675S	Likely pathogenic	1	1	102	9
MUT:TSC2:Pro1709Arg	PROT:P49815	TSC2	P	1709	R	P1709R	Pathogenic	1	1	102	5
MUT:TSC2:Pro1709Leu	PROT:P49815	TSC2	P	1709	L	P1709L	Pathogenic	1	2	102	5
MUT:TSC2:Pro1786Arg	PROT:P49815	TSC2	P	1786	R	P1786R	Benign/Likely benign	0	3	102	2
MUT:TSC2:Pro28Ser	PROT:P49815	TSC2	P	28	S	P28S	Benign/Likely benign	0	2	102	5
MUT:TSC2:Pro330Leu	PROT:P49815	TSC2	P	330	L	P330L	Benign/Likely benign	0	3	102	72
MUT:TSC2:Pro419Ser	PROT:P49815	TSC2	P	419	S	P419S	Pathogenic	1	2	102	12
MUT:TSC2:Pro543Leu	PROT:P49815	TSC2	P	543	L	P543L	Benign/Likely benign	0	4	102	3
MUT:TSC2:Pro579Ala	PROT:P49815	TSC2	P	579	A	P579A	Benign/Likely benign	0	4	102	23
MUT:TSC2:Pro632Leu	PROT:P49815	TSC2	P	632	L	P632L	Benign	0	1	102	2
MUT:TSC2:Pro651Ser	PROT:P49815	TSC2	P	651	S	P651S	Benign	0	1	102	7
MUT:TSC2:Pro672Arg	PROT:P49815	TSC2	P	672	R	P672R	Benign	0	1	102	8
MUT:TSC2:Pro677Ser	PROT:P49815	TSC2	P	677	S	P677S	Benign	0	1	102	13
MUT:TSC2:Pro744Leu	PROT:P49815	TSC2	P	744	L	P744L	Benign	0	1	102	40
MUT:TSC2:Pro91Leu	PROT:P49815	TSC2	P	91	L	P91L	Benign/Likely benign	0	3	102	15
MUT:TSC2:Ser1094Leu	PROT:P49815	TSC2	S	1094	L	S1094L	Benign/Likely benign	0	3	102	0
MUT:TSC2:Ser1095Asn	PROT:P49815	TSC2	S	1095	N	S1095N	Pathogenic/Likely pathogenic	1	3	102	1
MUT:TSC2:Ser1130Cys	PROT:P49815	TSC2	S	1130	C	S1130C	Benign	0	1	102	0
MUT:TSC2:Ser1147Phe	PROT:P49815	TSC2	S	1147	F	S1147F	Benign	0	1	102	8
MUT:TSC2:Ser1170Pro	PROT:P49815	TSC2	S	1170	P	S1170P	Benign	0	1	102	2
MUT:TSC2:Ser1259Gly	PROT:P49815	TSC2	S	1259	G	S1259G	Likely benign	0	1	102	0
MUT:TSC2:Ser1274Pro	PROT:P49815	TSC2	S	1274	P	S1274P	Benign	0	1	102	3
MUT:TSC2:Ser1276Phe	PROT:P49815	TSC2	S	1276	F	S1276F	Benign/Likely benign	0	3	102	5
MUT:TSC2:Ser1282Arg	PROT:P49815	TSC2	S	1282	R	S1282R	Benign	0	2	102	11
MUT:TSC2:Ser1292Cys	PROT:P49815	TSC2	S	1292	C	S1292C	Benign/Likely benign	0	2	102	12
MUT:TSC2:Ser1341Asn	PROT:P49815	TSC2	S	1341	N	S1341N	Benign	0	1	102	0
MUT:TSC2:Ser1364Tyr	PROT:P49815	TSC2	S	1364	Y	S1364Y	Benign	0	1	102	0
MUT:TSC2:Ser1364Val	PROT:P49815	TSC2	S	1364	V	S1364V	Likely benign	0	2	102	0
MUT:TSC2:Ser1433Leu	PROT:P49815	TSC2	S	1433	L	S1433L	Benign/Likely benign	0	3	102	6
MUT:TSC2:Ser1449Cys	PROT:P49815	TSC2	S	1449	C	S1449C	Likely benign	0	1	102	0
MUT:TSC2:Ser1498Ile	PROT:P49815	TSC2	S	1498	I	S1498I	Likely pathogenic	1	1	102	32
MUT:TSC2:Ser1498Thr	PROT:P49815	TSC2	S	1498	T	S1498T	Likely pathogenic	1	2	102	32
MUT:TSC2:Ser1563Cys	PROT:P49815	TSC2	S	1563	C	S1563C	Benign	0	1	102	8
MUT:TSC2:Ser1653Pro	PROT:P49815	TSC2	S	1653	P	S1653P	Pathogenic	1	2	102	0
MUT:TSC2:Ser1684Pro	PROT:P49815	TSC2	S	1684	P	S1684P	Likely pathogenic	1	1	102	0
MUT:TSC2:Ser1698Arg	PROT:P49815	TSC2	S	1698	R	S1698R	Benign/Likely benign	0	4	102	3
MUT:TSC2:Ser1704Ala	PROT:P49815	TSC2	S	1704	A	S1704A	Benign	0	1	102	0
MUT:TSC2:Ser1799Pro	PROT:P49815	TSC2	S	1799	P	S1799P	Benign	0	1	102	0
MUT:TSC2:Ser235Asn	PROT:P49815	TSC2	S	235	N	S235N	Benign/Likely benign	0	3	102	15
MUT:TSC2:Ser322Leu	PROT:P49815	TSC2	S	322	L	S322L	Benign	0	1	102	64
MUT:TSC2:Ser433Pro	PROT:P49815	TSC2	S	433	P	S433P	Benign	0	1	102	5
MUT:TSC2:Ser491Leu	PROT:P49815	TSC2	S	491	L	S491L	Benign/Likely benign	0	2	102	49
MUT:TSC2:Ser581Arg	PROT:P49815	TSC2	S	581	R	S581R	Benign/Likely benign	0	2	102	21
MUT:TSC2:Ser625Pro	PROT:P49815	TSC2	S	625	P	S625P	Benign	0	1	102	9
MUT:TSC2:Ser6Thr	PROT:P49815	TSC2	S	6	T	S6T	Benign	0	1	102	1
MUT:TSC2:Ser802Gly	PROT:P49815	TSC2	S	802	G	S802G	Benign/Likely benign	0	4	102	98
MUT:TSC2:Ser809Ala	PROT:P49815	TSC2	S	809	A	S809A	Likely benign	0	1	102	105
MUT:TSC2:Thr1059Ile	PROT:P49815	TSC2	T	1059	I	T1059I	Likely benign	0	1	102	1
MUT:TSC2:Thr1068Ile	PROT:P49815	TSC2	T	1068	I	T1068I	Pathogenic	1	2	102	10
MUT:TSC2:Thr1068Pro	PROT:P49815	TSC2	T	1068	P	T1068P	Likely pathogenic	1	1	102	10
MUT:TSC2:Thr1071Arg	PROT:P49815	TSC2	T	1071	R	T1071R	Pathogenic	1	2	102	13
MUT:TSC2:Thr1206Pro	PROT:P49815	TSC2	T	1206	P	T1206P	Likely pathogenic	1	1	102	3
MUT:TSC2:Thr147Lys	PROT:P49815	TSC2	T	147	K	T147K	Pathogenic	1	1	102	3
MUT:TSC2:Thr1485Ala	PROT:P49815	TSC2	T	1485	A	T1485A	Likely benign	0	1	102	19
MUT:TSC2:Thr1623Ile	PROT:P49815	TSC2	T	1623	I	T1623I	Pathogenic/Likely pathogenic	1	2	102	24
MUT:TSC2:Thr1733Ser	PROT:P49815	TSC2	T	1733	S	T1733S	Benign	0	1	102	3
MUT:TSC2:Thr509Pro	PROT:P49815	TSC2	T	509	P	T509P	Likely pathogenic	1	1	102	31
MUT:TSC2:Thr5Ala	PROT:P49815	TSC2	T	5	A	T5A	Benign/Likely benign	0	3	102	2
MUT:TSC2:Thr783Ile	PROT:P49815	TSC2	T	783	I	T783I	Benign/Likely benign	0	4	102	79
MUT:TSC2:Thr783Ser	PROT:P49815	TSC2	T	783	S	T783S	Benign/Likely benign	0	4	102	79
MUT:TSC2:Thr849Pro	PROT:P49815	TSC2	T	849	P	T849P	Likely pathogenic	1	1	102	65
MUT:TSC2:Thr876Ser	PROT:P49815	TSC2	T	876	S	T876S	Benign	0	1	102	38
MUT:TSC2:Thr913Pro	PROT:P49815	TSC2	T	913	P	T913P	Pathogenic/Likely pathogenic	1	2	102	1
MUT:TSC2:Thr993Met	PROT:P49815	TSC2	T	993	M	T993M	Benign/Likely benign	0	4	102	6
MUT:TSC2:Trp1060Ser	PROT:P49815	TSC2	W	1060	S	W1060S	Pathogenic	1	1	102	2
MUT:TSC2:Trp896Cys	PROT:P49815	TSC2	W	896	C	W896C	Likely benign	0	1	102	18
MUT:TSC2:Tyr1186Cys	PROT:P49815	TSC2	Y	1186	C	Y1186C	Benign/Likely benign	0	4	102	6
MUT:TSC2:Tyr130His	PROT:P49815	TSC2	Y	130	H	Y130H	Benign	0	1	102	2
MUT:TSC2:Tyr1333Asp	PROT:P49815	TSC2	Y	1333	D	Y1333D	Benign/Likely benign	0	2	102	1
MUT:TSC2:Tyr1549Cys	PROT:P49815	TSC2	Y	1549	C	Y1549C	Pathogenic/Likely pathogenic	1	3	102	22
MUT:TSC2:Tyr1549His	PROT:P49815	TSC2	Y	1549	H	Y1549H	Likely pathogenic	1	1	102	22
MUT:TSC2:Tyr1571Cys	PROT:P49815	TSC2	Y	1571	C	Y1571C	Likely pathogenic	1	2	102	0
MUT:TSC2:Tyr1571His	PROT:P49815	TSC2	Y	1571	H	Y1571H	Pathogenic	1	1	102	0
MUT:TSC2:Tyr1678His	PROT:P49815	TSC2	Y	1678	H	Y1678H	Benign	0	1	102	6
MUT:TSC2:Tyr1736Ser	PROT:P49815	TSC2	Y	1736	S	Y1736S	Likely benign	0	1	102	3
MUT:TSC2:Tyr598Asn	PROT:P49815	TSC2	Y	598	N	Y598N	Likely pathogenic	1	1	102	4
MUT:TSC2:Tyr598Cys	PROT:P49815	TSC2	Y	598	C	Y598C	Pathogenic/Likely pathogenic	1	3	102	4
MUT:TSC2:Tyr598His	PROT:P49815	TSC2	Y	598	H	Y598H	Pathogenic/Likely pathogenic	1	3	102	4
MUT:TSC2:Tyr875Asp	PROT:P49815	TSC2	Y	875	D	Y875D	Likely pathogenic	1	1	102	39
MUT:TSC2:Tyr884Cys	PROT:P49815	TSC2	Y	884	C	Y884C	Likely benign	0	1	102	30
MUT:TSC2:Val1008Met	PROT:P49815	TSC2	V	1008	M	V1008M	Benign/Likely benign	0	3	102	9
MUT:TSC2:Val1047Met	PROT:P49815	TSC2	V	1047	M	V1047M	Benign	0	1	102	4
MUT:TSC2:Val1175Ala	PROT:P49815	TSC2	V	1175	A	V1175A	Benign	0	2	102	5
MUT:TSC2:Val1298Met	PROT:P49815	TSC2	V	1298	M	V1298M	Benign/Likely benign	0	3	102	6
MUT:TSC2:Val1312Leu	PROT:P49815	TSC2	V	1312	L	V1312L	Benign	0	1	102	8
MUT:TSC2:Val1492Leu	PROT:P49815	TSC2	V	1492	L	V1492L	Benign	0	1	102	26
MUT:TSC2:Val1646Met	PROT:P49815	TSC2	V	1646	M	V1646M	Pathogenic/Likely pathogenic	1	1	102	1
MUT:TSC2:Val1649Ile	PROT:P49815	TSC2	V	1649	I	V1649I	Benign/Likely benign	0	2	102	1
MUT:TSC2:Val1673Leu	PROT:P49815	TSC2	V	1673	L	V1673L	Benign/Likely benign	0	4	102	11
MUT:TSC2:Val1683Ala	PROT:P49815	TSC2	V	1683	A	V1683A	Pathogenic	1	1	102	1
MUT:TSC2:Val1683Gly	PROT:P49815	TSC2	V	1683	G	V1683G	Pathogenic	1	1	102	1
MUT:TSC2:Val184Asp	PROT:P49815	TSC2	V	184	D	V184D	Pathogenic	1	1	102	40
MUT:TSC2:Val241Ile	PROT:P49815	TSC2	V	241	I	V241I	Benign/Likely benign	0	4	102	9
MUT:TSC2:Val384Ile	PROT:P49815	TSC2	V	384	I	V384I	Benign/Likely benign	0	3	102	19
MUT:TSC2:Val391Glu	PROT:P49815	TSC2	V	391	E	V391E	Likely pathogenic	1	1	102	12
MUT:TSC2:Val586Leu	PROT:P49815	TSC2	V	586	L	V586L	Benign	0	1	102	16
MUT:TSC2:Val709Gly	PROT:P49815	TSC2	V	709	G	V709G	Likely pathogenic	1	1	102	5
MUT:TSC2:Val709Phe	PROT:P49815	TSC2	V	709	F	V709F	Likely pathogenic	1	1	102	5
MUT:TSC2:Val766Met	PROT:P49815	TSC2	V	766	M	V766M	Benign/Likely benign	0	4	102	62
MUT:TSC2:Val767Phe	PROT:P49815	TSC2	V	767	F	V767F	Benign	0	1	102	63
MUT:TSC2:Val909Asp	PROT:P49815	TSC2	V	909	D	V909D	Likely pathogenic	1	1	102	5
MUT:TSEN34:Arg105Gln	PROT:Q9BSV6	TSEN34	R	105	Q	R105Q	Benign/Likely benign	0	1	9	10
MUT:TSEN34:Arg58Trp	PROT:Q9BSV6	TSEN34	R	58	W	R58W	Pathogenic	1	1	9	22
MUT:TSEN34:Leu112Val	PROT:Q9BSV6	TSEN34	L	112	V	L112V	Benign	0	1	9	3
MUT:TSFM:Arg312Trp	PROT:P43897	TSFM	R	312	W	R312W	Pathogenic/Likely pathogenic	1	1	8	12
MUT:TSFM:Cys315Tyr	PROT:P43897	TSFM	C	315	Y	C315Y	Likely pathogenic	1	1	8	9
MUT:TSFM:Gln258His	PROT:P43897	TSFM	Q	258	H	Q258H	Likely pathogenic	1	1	8	58
MUT:TSFM:Gln286Arg	PROT:P43897	TSFM	Q	286	R	Q286R	Likely pathogenic	1	1	8	38
MUT:TSFM:Gly171Glu	PROT:P43897	TSFM	G	171	E	G171E	Likely benign	0	1	8	10
MUT:TSFM:Leu266Ile	PROT:P43897	TSFM	L	266	I	L266I	Benign/Likely benign	0	2	8	58
MUT:TSFM:Met1Arg	PROT:P43897	TSFM	M	1	R	M1R	Likely pathogenic	1	1	8	42
MUT:TSFM:Ser209Ala	PROT:P43897	TSFM	S	209	A	S209A	Likely benign	0	1	8	9
MUT:TSFM:Ser2Leu	PROT:P43897	TSFM	S	2	L	S2L	Benign	0	1	8	41
MUT:TSFM:Trp91Gly	PROT:P43897	TSFM	W	91	G	W91G	Benign/Likely benign	0	1	8	25
MUT:TSFM:Val119Leu	PROT:P43897	TSFM	V	119	L	V119L	Likely pathogenic	1	1	8	42
MUT:TSFM:Val252Ile	PROT:P43897	TSFM	V	252	I	V252I	Benign/Likely benign	0	2	8	52
MUT:TSHB:Arg75Gly	PROT:P01222	TSHB	R	75	G	R75G	Benign/Likely benign	0	1	1	7
MUT:TSHB:Gly49Arg	PROT:P01222	TSHB	G	49	R	G49R	Pathogenic/Likely pathogenic	1	1	1	19
MUT:TSHB:Thr14Ala	PROT:P01222	TSHB	T	14	A	T14A	Benign	0	1	1	54
MUT:TSHB:Val99Ala	PROT:P01222	TSHB	V	99	A	V99A	Benign	0	1	1	31
MUT:TSHZ2:Gln430Leu	PROT:Q9NRE2	TSHZ2	Q	430	L	Q430L	Likely benign	0	1	14	75
MUT:TSHZ2:Ser83Ala	PROT:Q9NRE2	TSHZ2	S	83	A	S83A	Likely benign	0	1	14	11
MUT:TSPEAR:Ala15Val	PROT:Q8WU66	TSPEAR	A	15	V	A15V	Benign/Likely benign	0	2	1	109
MUT:TSPEAR:Gly139Ser	PROT:Q8WU66	TSPEAR	G	139	S	G139S	Benign/Likely benign	0	1	1	15
MUT:TSPEAR:Gly17Ser	PROT:Q8WU66	TSPEAR	G	17	S	G17S	Likely benign	0	1	1	107
MUT:TSPEAR:Gly475Arg	PROT:Q8WU66	TSPEAR	G	475	R	G475R	Pathogenic	1	1	1	351
MUT:TSPEAR:Gly525Asp	PROT:Q8WU66	TSPEAR	G	525	D	G525D	Pathogenic/Likely pathogenic	1	1	1	401
MUT:TSPEAR:His18Arg	PROT:Q8WU66	TSPEAR	H	18	R	H18R	Likely benign	0	1	1	106
MUT:TSPEAR:Pro522Leu	PROT:Q8WU66	TSPEAR	P	522	L	P522L	Likely benign	0	1	1	398
MUT:TSPEAR:Val353Ile	PROT:Q8WU66	TSPEAR	V	353	I	V353I	Likely benign	0	1	1	229
MUT:TSPYL1:Ile304Val	PROT:Q9H0U9	TSPYL1	I	304	V	I304V	Likely benign	0	1	8	30
MUT:TSPYL1:Lys183Glu	PROT:Q9H0U9	TSPYL1	K	183	E	K183E	Likely benign	0	1	8	27
MUT:TSPYL1:Phe366Leu	PROT:Q9H0U9	TSPYL1	F	366	L	F366L	Likely benign	0	2	8	28
MUT:TSPYL1:Thr145Met	PROT:Q9H0U9	TSPYL1	T	145	M	T145M	Likely benign	0	1	8	3
MUT:TSPYL1:Val86Ile	PROT:Q9H0U9	TSPYL1	V	86	I	V86I	Likely benign	0	1	8	56
MUT:TSR1:Ala552Thr	PROT:Q2NL82	TSR1	A	552	T	A552T	Likely benign	0	1	11	10
MUT:TSR1:Pro586Ala	PROT:Q2NL82	TSR1	P	586	A	P586A	Benign	0	3	11	40
MUT:TSR1:Thr778Ile	PROT:Q2NL82	TSR1	T	778	I	T778I	Likely benign	0	1	11	18
MUT:TSR2:Glu64Gly	PROT:Q969E8	TSR2	E	64	G	E64G	Pathogenic	1	2	2	20
MUT:TTBK1:Arg258Gln	PROT:Q5TCY1	TTBK1	R	258	Q	R258Q	Likely pathogenic	1	1	5	198
MUT:TTC12:Ala347Thr	PROT:Q9H892	TTC12	A	347	T	A347T	Likely benign	0	1	10	108
MUT:TTC12:Arg128His	PROT:Q9H892	TTC12	R	128	H	R128H	Likely benign	0	1	10	6
MUT:TTC12:Arg357Gln	PROT:Q9H892	TTC12	R	357	Q	R357Q	Likely benign	0	1	10	118
MUT:TTC12:Asn286Asp	PROT:Q9H892	TTC12	N	286	D	N286D	Likely benign	0	1	10	47
MUT:TTC12:Ile126Val	PROT:Q9H892	TTC12	I	126	V	I126V	Likely benign	0	1	10	4
MUT:TTC12:Leu47Phe	PROT:Q9H892	TTC12	L	47	F	L47F	Likely benign	0	1	10	24
MUT:TTC12:Met567Arg	PROT:Q9H892	TTC12	M	567	R	M567R	Pathogenic	1	1	10	1
MUT:TTC12:Met73Leu	PROT:Q9H892	TTC12	M	73	L	M73L	Benign	0	1	10	2
MUT:TTC12:Ser608Gly	PROT:Q9H892	TTC12	S	608	G	S608G	Likely benign	0	1	10	36
MUT:TTC12:Ser657Gly	PROT:Q9H892	TTC12	S	657	G	S657G	Likely benign	0	1	10	85
MUT:TTC12:Thr659Ala	PROT:Q9H892	TTC12	T	659	A	T659A	Likely benign	0	1	10	87
MUT:TTC12:Val336Leu	PROT:Q9H892	TTC12	V	336	L	V336L	Likely benign	0	1	10	97
MUT:TTC19:Arg294His	PROT:Q6DKK2	TTC19	R	294	H	R294H	Likely benign	0	1	4	32
MUT:TTC19:Arg304Thr	PROT:Q6DKK2	TTC19	R	304	T	R304T	Benign/Likely benign	0	2	4	42
MUT:TTC19:Leu185Pro	PROT:Q6DKK2	TTC19	L	185	P	L185P	Pathogenic/Likely pathogenic	1	1	4	53
MUT:TTC19:Ser283Asn	PROT:Q6DKK2	TTC19	S	283	N	S283N	Likely benign	0	1	4	21
MUT:TTC21B:Ala44Asp	PROT:Q7Z4L5	TTC21B	A	44	D	A44D	Pathogenic/Likely pathogenic	1	1	17	98
MUT:TTC21B:Arg1222Trp	PROT:Q7Z4L5	TTC21B	R	1222	W	R1222W	Likely pathogenic	1	2	17	37
MUT:TTC21B:Asp242Asn	PROT:Q7Z4L5	TTC21B	D	242	N	D242N	Benign/Likely benign	0	2	17	66
MUT:TTC21B:Asp424Glu	PROT:Q7Z4L5	TTC21B	D	424	E	D424E	Likely benign	0	1	17	116
MUT:TTC21B:Gln222Leu	PROT:Q7Z4L5	TTC21B	Q	222	L	Q222L	Benign/Likely benign	0	6	17	56
MUT:TTC21B:Gly331Glu	PROT:Q7Z4L5	TTC21B	G	331	E	G331E	Likely pathogenic	1	1	17	23
MUT:TTC21B:Ile1208Val	PROT:Q7Z4L5	TTC21B	I	1208	V	I1208V	Likely benign	0	1	17	23
MUT:TTC21B:Ile624Val	PROT:Q7Z4L5	TTC21B	I	624	V	I624V	Benign	0	2	17	51
MUT:TTC21B:Leu1202Pro	PROT:Q7Z4L5	TTC21B	L	1202	P	L1202P	Pathogenic/Likely pathogenic	1	2	17	17
MUT:TTC21B:Leu473Phe	PROT:Q7Z4L5	TTC21B	L	473	F	L473F	Benign	0	3	17	165
MUT:TTC21B:Leu795Pro	PROT:Q7Z4L5	TTC21B	L	795	P	L795P	Pathogenic	1	1	17	34
MUT:TTC21B:Met251Arg	PROT:Q7Z4L5	TTC21B	M	251	R	M251R	Likely pathogenic	1	1	17	57
MUT:TTC21B:Met280Val	PROT:Q7Z4L5	TTC21B	M	280	V	M280V	Benign/Likely benign	0	3	17	28
MUT:TTC21B:Pro209Leu	PROT:Q7Z4L5	TTC21B	P	209	L	P209L	Pathogenic/Likely pathogenic	1	8	17	43
MUT:TTC21B:Pro463Ser	PROT:Q7Z4L5	TTC21B	P	463	S	P463S	Benign	0	3	17	155
MUT:TTC21B:Pro466His	PROT:Q7Z4L5	TTC21B	P	466	H	P466H	Likely pathogenic	1	1	17	158
MUT:TTC21B:Ser524Cys	PROT:Q7Z4L5	TTC21B	S	524	C	S524C	Benign/Likely benign	0	2	17	151
MUT:TTC21B:Thr276Ala	PROT:Q7Z4L5	TTC21B	T	276	A	T276A	Benign	0	2	17	32
MUT:TTC21B:Thr769Ser	PROT:Q7Z4L5	TTC21B	T	769	S	T769S	Likely benign	0	1	17	8
MUT:TTC21B:Val201Met	PROT:Q7Z4L5	TTC21B	V	201	M	V201M	Benign	0	2	17	35
MUT:TTC28:Ala2424Gly	PROT:Q96AY4	TTC28	A	2424	G	A2424G	Benign	0	1	24	47
MUT:TTC28:Arg1791Gln	PROT:Q96AY4	TTC28	R	1791	Q	R1791Q	Likely benign	0	4	24	265
MUT:TTC28:Arg1813Trp	PROT:Q96AY4	TTC28	R	1813	W	R1813W	Likely benign	0	1	24	243
MUT:TTC28:His927Tyr	PROT:Q96AY4	TTC28	H	927	Y	H927Y	Likely benign	0	1	24	214
MUT:TTC39B:Thr62Pro	PROT:Q5VTQ0	TTC39B	T	62	P	T62P	Likely benign	0	15	2	86
MUT:TTC3:Asp1268Gly	PROT:P53804	TTC3	D	1268	G	D1268G	Benign	0	4	19	10
MUT:TTC7A:Ala798Val	PROT:Q9ULT0	TTC7A	A	798	V	A798V	Likely pathogenic	1	1	34	2
MUT:TTC7A:Ala832Thr	PROT:Q9ULT0	TTC7A	A	832	T	A832T	Likely pathogenic	1	1	34	32
MUT:TTC7A:Arg146Gln	PROT:Q9ULT0	TTC7A	R	146	Q	R146Q	Benign	0	1	34	11
MUT:TTC7A:Arg188Leu	PROT:Q9ULT0	TTC7A	R	188	L	R188L	Benign/Likely benign	0	2	34	3
MUT:TTC7A:Arg515Trp	PROT:Q9ULT0	TTC7A	R	515	W	R515W	Likely benign	0	2	34	1
MUT:TTC7A:Arg753Gln	PROT:Q9ULT0	TTC7A	R	753	Q	R753Q	Likely benign	0	2	34	5
MUT:TTC7A:Gln377Glu	PROT:Q9ULT0	TTC7A	Q	377	E	Q377E	Benign/Likely benign	0	1	34	19
MUT:TTC7A:Gln724Lys	PROT:Q9ULT0	TTC7A	Q	724	K	Q724K	Benign/Likely benign	0	1	34	27
MUT:TTC7A:Glu687Asp	PROT:Q9ULT0	TTC7A	E	687	D	E687D	Benign	0	1	34	3
MUT:TTC7A:Glu71Lys	PROT:Q9ULT0	TTC7A	E	71	K	E71K	Pathogenic/Likely pathogenic	1	3	34	8
MUT:TTC7A:Leu32Val	PROT:Q9ULT0	TTC7A	L	32	V	L32V	Benign	0	3	34	19
MUT:TTC7A:Leu823Pro	PROT:Q9ULT0	TTC7A	L	823	P	L823P	Pathogenic/Likely pathogenic	1	3	34	23
MUT:TTC7A:Met154Ile	PROT:Q9ULT0	TTC7A	M	154	I	M154I	Likely benign	0	1	34	3
MUT:TTC7A:Met552Ile	PROT:Q9ULT0	TTC7A	M	552	I	M552I	Likely benign	0	1	34	8
MUT:TTC7A:Ser116Leu	PROT:Q9ULT0	TTC7A	S	116	L	S116L	Likely benign	0	2	34	8
MUT:TTC7A:Ser446Leu	PROT:Q9ULT0	TTC7A	S	446	L	S446L	Likely benign	0	2	34	3
MUT:TTC7A:Ser53Thr	PROT:Q9ULT0	TTC7A	S	53	T	S53T	Benign	0	1	34	0
MUT:TTC7A:Thr198Ala	PROT:Q9ULT0	TTC7A	T	198	A	T198A	Likely benign	0	2	34	13
MUT:TTC7A:Val450Met	PROT:Q9ULT0	TTC7A	V	450	M	V450M	Benign/Likely benign	0	2	34	1
MUT:TTC7A:Val538Leu	PROT:Q9ULT0	TTC7A	V	538	L	V538L	Benign	0	2	34	22
MUT:TTC7A:Val626Met	PROT:Q9ULT0	TTC7A	V	626	M	V626M	Likely benign	0	1	34	21
MUT:TTI1:Ala671Thr	PROT:O43156	TTI1	A	671	T	A671T	Likely pathogenic	1	1	7	157
MUT:TTI1:Ala710Ser	PROT:O43156	TTI1	A	710	S	A710S	Likely benign	0	1	7	118
MUT:TTI1:Arg477His	PROT:O43156	TTI1	R	477	H	R477H	Likely benign	0	1	7	216
MUT:TTI1:Asp685Asn	PROT:O43156	TTI1	D	685	N	D685N	Likely benign	0	1	7	143
MUT:TTI1:Asp921Asn	PROT:O43156	TTI1	D	921	N	D921N	Likely pathogenic	1	2	7	18
MUT:TTI1:His424Arg	PROT:O43156	TTI1	H	424	R	H424R	Likely pathogenic	1	1	7	163
MUT:TTI1:Leu767Ser	PROT:O43156	TTI1	L	767	S	L767S	Pathogenic	1	1	7	61
MUT:TTI1:Leu993Arg	PROT:O43156	TTI1	L	993	R	L993R	Pathogenic	1	1	7	26
MUT:TTI1:Ser838Leu	PROT:O43156	TTI1	S	838	L	S838L	Likely pathogenic	1	1	7	10
MUT:TTI2:Ala503Thr	PROT:Q6NXR4	TTI2	A	503	T	A503T	Likely benign	0	1	6	5
MUT:TTI2:Arg202Ser	PROT:Q6NXR4	TTI2	R	202	S	R202S	Likely benign	0	1	6	2
MUT:TTI2:Arg344Gln	PROT:Q6NXR4	TTI2	R	344	Q	R344Q	Benign	0	1	6	130
MUT:TTI2:Asn506Asp	PROT:Q6NXR4	TTI2	N	506	D	N506D	Likely benign	0	1	6	2
MUT:TTI2:Asp317Val	PROT:Q6NXR4	TTI2	D	317	V	D317V	Pathogenic/Likely pathogenic	1	1	6	117
MUT:TTI2:Glu63Gly	PROT:Q6NXR4	TTI2	E	63	G	E63G	Benign	0	2	6	15
MUT:TTI2:His193Arg	PROT:Q6NXR4	TTI2	H	193	R	H193R	Likely benign	0	1	6	7
MUT:TTI2:Ile436Asn	PROT:Q6NXR4	TTI2	I	436	N	I436N	Pathogenic	1	1	6	38
MUT:TTI2:Leu180Pro	PROT:Q6NXR4	TTI2	L	180	P	L180P	Pathogenic	1	1	6	20
MUT:TTI2:Leu192Pro	PROT:Q6NXR4	TTI2	L	192	P	L192P	Pathogenic	1	1	6	8
MUT:TTI2:Pro367Leu	PROT:Q6NXR4	TTI2	P	367	L	P367L	Pathogenic	1	1	6	107
MUT:TTI2:Ser422Pro	PROT:Q6NXR4	TTI2	S	422	P	S422P	Likely benign	0	1	6	52
MUT:TTI2:Tyr492Cys	PROT:Q6NXR4	TTI2	Y	492	C	Y492C	Likely benign	0	1	6	4
MUT:TTI2:Val150Ile	PROT:Q6NXR4	TTI2	V	150	I	V150I	Likely benign	0	1	6	50
MUT:TTLL5:Ala149Val	PROT:Q6EMB2	TTLL5	A	149	V	A149V	Benign	0	1	25	20
MUT:TTLL5:Ala164Thr	PROT:Q6EMB2	TTLL5	A	164	T	A164T	Likely benign	0	1	25	16
MUT:TTLL5:Arg989Cys	PROT:Q6EMB2	TTLL5	R	989	C	R989C	Likely benign	0	1	25	8
MUT:TTLL5:Asp594Gly	PROT:Q6EMB2	TTLL5	D	594	G	D594G	Likely benign	0	2	25	23
MUT:TTLL5:Cys946Ser	PROT:Q6EMB2	TTLL5	C	946	S	C946S	Likely benign	0	1	25	51
MUT:TTLL5:Glu543Lys	PROT:Q6EMB2	TTLL5	E	543	K	E543K	Pathogenic	1	2	25	1
MUT:TTLL5:Ile954Val	PROT:Q6EMB2	TTLL5	I	954	V	I954V	Likely benign	0	1	25	43
MUT:TTLL5:Lys275Arg	PROT:Q6EMB2	TTLL5	K	275	R	K275R	Benign	0	1	25	0
MUT:TTLL5:Met1190Val	PROT:Q6EMB2	TTLL5	M	1190	V	M1190V	Likely benign	0	1	25	17
MUT:TTLL5:Ser1105Pro	PROT:Q6EMB2	TTLL5	S	1105	P	S1105P	Likely benign	0	1	25	54
MUT:TTLL5:Thr72Met	PROT:Q6EMB2	TTLL5	T	72	M	T72M	Likely pathogenic	1	1	25	46
MUT:TTN:Ala1021Asp	PROT:Q8WZ42	TTN	A	1021	D	A1021D	Likely benign	0	1	380	103
MUT:TTN:Ala10915Pro	PROT:Q8WZ42	TTN	A	10915	P	A10915P	Benign/Likely benign	0	5	380	7
MUT:TTN:Ala1223Val	PROT:Q8WZ42	TTN	A	1223	V	A1223V	Benign/Likely benign	0	7	380	99
MUT:TTN:Ala12579Thr	PROT:Q8WZ42	TTN	A	12579	T	A12579T	Likely benign	0	1	380	12
MUT:TTN:Ala12919Thr	PROT:Q8WZ42	TTN	A	12919	T	A12919T	Likely benign	0	1	380	1
MUT:TTN:Ala13586Val	PROT:Q8WZ42	TTN	A	13586	V	A13586V	Likely benign	0	1	380	23
MUT:TTN:Ala13937Val	PROT:Q8WZ42	TTN	A	13937	V	A13937V	Benign/Likely benign	0	6	380	154
MUT:TTN:Ala13982Thr	PROT:Q8WZ42	TTN	A	13982	T	A13982T	Likely benign	0	1	380	199
MUT:TTN:Ala15018Val	PROT:Q8WZ42	TTN	A	15018	V	A15018V	Benign/Likely benign	0	4	380	31
MUT:TTN:Ala15059Thr	PROT:Q8WZ42	TTN	A	15059	T	A15059T	Benign/Likely benign	0	7	380	10
MUT:TTN:Ala1536Val	PROT:Q8WZ42	TTN	A	1536	V	A1536V	Likely pathogenic	1	1	380	25
MUT:TTN:Ala15565Ser	PROT:Q8WZ42	TTN	A	15565	S	A15565S	Benign/Likely benign	0	5	380	24
MUT:TTN:Ala17161Val	PROT:Q8WZ42	TTN	A	17161	V	A17161V	Benign/Likely benign	0	5	380	81
MUT:TTN:Ala211Thr	PROT:Q8WZ42	TTN	A	211	T	A211T	Likely benign	0	1	380	52
MUT:TTN:Ala21839Val	PROT:Q8WZ42	TTN	A	21839	V	A21839V	Benign/Likely benign	0	6	380	6
MUT:TTN:Ala22416Pro	PROT:Q8WZ42	TTN	A	22416	P	A22416P	Benign/Likely benign	0	6	380	109
MUT:TTN:Ala24343Ser	PROT:Q8WZ42	TTN	A	24343	S	A24343S	Likely benign	0	1	380	104
MUT:TTN:Ala25099Glu	PROT:Q8WZ42	TTN	A	25099	E	A25099E	Likely benign	0	1	380	104
MUT:TTN:Ala25281Ser	PROT:Q8WZ42	TTN	A	25281	S	A25281S	Likely benign	0	1	380	73
MUT:TTN:Ala27320Thr	PROT:Q8WZ42	TTN	A	27320	T	A27320T	Benign/Likely benign	0	6	380	65
MUT:TTN:Ala27600Thr	PROT:Q8WZ42	TTN	A	27600	T	A27600T	Benign/Likely benign	0	6	380	181
MUT:TTN:Ala27614Val	PROT:Q8WZ42	TTN	A	27614	V	A27614V	Likely benign	0	1	380	195
MUT:TTN:Ala3222Thr	PROT:Q8WZ42	TTN	A	3222	T	A3222T	Likely benign	0	1	380	154
MUT:TTN:Ala33265Gly	PROT:Q8WZ42	TTN	A	33265	G	A33265G	Likely benign	0	1	380	4
MUT:TTN:Ala33265Ser	PROT:Q8WZ42	TTN	A	33265	S	A33265S	Likely benign	0	1	380	4
MUT:TTN:Ala33265Thr	PROT:Q8WZ42	TTN	A	33265	T	A33265T	Likely benign	0	1	380	4
MUT:TTN:Ala3471Thr	PROT:Q8WZ42	TTN	A	3471	T	A3471T	Likely benign	0	1	380	93
MUT:TTN:Ala35263Phe	PROT:Q8WZ42	TTN	A	35263	F	A35263F	Benign/Likely benign	0	5	380	997
MUT:TTN:Ala35263Ser	PROT:Q8WZ42	TTN	A	35263	S	A35263S	Benign/Likely benign	0	6	380	997
MUT:TTN:Ala35263Val	PROT:Q8WZ42	TTN	A	35263	V	A35263V	Benign/Likely benign	0	6	380	997
MUT:TTN:Ala4319Thr	PROT:Q8WZ42	TTN	A	4319	T	A4319T	Benign/Likely benign	0	5	380	10
MUT:TTN:Ala4545Thr	PROT:Q8WZ42	TTN	A	4545	T	A4545T	Benign/Likely benign	0	1	380	121
MUT:TTN:Ala4900Thr	PROT:Q8WZ42	TTN	A	4900	T	A4900T	Benign/Likely benign	0	8	380	172
MUT:TTN:Ala5997Thr	PROT:Q8WZ42	TTN	A	5997	T	A5997T	Benign/Likely benign	0	7	380	436
MUT:TTN:Ala6746Thr	PROT:Q8WZ42	TTN	A	6746	T	A6746T	Benign/Likely benign	0	5	380	60
MUT:TTN:Ala6954Val	PROT:Q8WZ42	TTN	A	6954	V	A6954V	Benign	0	14	380	31
MUT:TTN:Ala7015Val	PROT:Q8WZ42	TTN	A	7015	V	A7015V	Benign/Likely benign	0	9	380	92
MUT:TTN:Ala8355Glu	PROT:Q8WZ42	TTN	A	8355	E	A8355E	Benign/Likely benign	0	5	380	71
MUT:TTN:Arg10883Lys	PROT:Q8WZ42	TTN	R	10883	K	R10883K	Benign/Likely benign	0	5	380	39
MUT:TTN:Arg11096His	PROT:Q8WZ42	TTN	R	11096	H	R11096H	Benign/Likely benign	0	5	380	174
MUT:TTN:Arg11657His	PROT:Q8WZ42	TTN	R	11657	H	R11657H	Benign/Likely benign	0	7	380	74
MUT:TTN:Arg13761His	PROT:Q8WZ42	TTN	R	13761	H	R13761H	Likely benign	0	1	380	22
MUT:TTN:Arg1408His	PROT:Q8WZ42	TTN	R	1408	H	R1408H	Likely benign	0	1	380	2
MUT:TTN:Arg1416Cys	PROT:Q8WZ42	TTN	R	1416	C	R1416C	Benign/Likely benign	0	6	380	2
MUT:TTN:Arg1441Pro	PROT:Q8WZ42	TTN	R	1441	P	R1441P	Benign/Likely benign	0	6	380	3
MUT:TTN:Arg14535Cys	PROT:Q8WZ42	TTN	R	14535	C	R14535C	Benign/Likely benign	0	6	380	148
MUT:TTN:Arg1572Gln	PROT:Q8WZ42	TTN	R	1572	Q	R1572Q	Benign/Likely benign	0	5	380	11
MUT:TTN:Arg15832Gln	PROT:Q8WZ42	TTN	R	15832	Q	R15832Q	Likely benign	0	1	380	150
MUT:TTN:Arg15908His	PROT:Q8WZ42	TTN	R	15908	H	R15908H	Benign/Likely benign	0	7	380	226
MUT:TTN:Arg17000Lys	PROT:Q8WZ42	TTN	R	17000	K	R17000K	Likely benign	0	1	380	242
MUT:TTN:Arg17086Cys	PROT:Q8WZ42	TTN	R	17086	C	R17086C	Likely benign	0	1	380	156
MUT:TTN:Arg17092Lys	PROT:Q8WZ42	TTN	R	17092	K	R17092K	Likely benign	0	1	380	150
MUT:TTN:Arg17812Gly	PROT:Q8WZ42	TTN	R	17812	G	R17812G	Likely benign	0	1	380	43
MUT:TTN:Arg19155Lys	PROT:Q8WZ42	TTN	R	19155	K	R19155K	Benign/Likely benign	0	5	380	20
MUT:TTN:Arg19228His	PROT:Q8WZ42	TTN	R	19228	H	R19228H	Benign/Likely benign	0	6	380	43
MUT:TTN:Arg19257Gln	PROT:Q8WZ42	TTN	R	19257	Q	R19257Q	Benign/Likely benign	0	1	380	14
MUT:TTN:Arg19479His	PROT:Q8WZ42	TTN	R	19479	H	R19479H	Benign/Likely benign	0	5	380	3
MUT:TTN:Arg20483His	PROT:Q8WZ42	TTN	R	20483	H	R20483H	Likely pathogenic	1	1	380	18
MUT:TTN:Arg20717Gly	PROT:Q8WZ42	TTN	R	20717	G	R20717G	Benign/Likely benign	0	5	380	118
MUT:TTN:Arg21009Gln	PROT:Q8WZ42	TTN	R	21009	Q	R21009Q	Benign/Likely benign	0	5	380	24
MUT:TTN:Arg21698Cys	PROT:Q8WZ42	TTN	R	21698	C	R21698C	Benign/Likely benign	0	6	380	22
MUT:TTN:Arg22205Lys	PROT:Q8WZ42	TTN	R	22205	K	R22205K	Benign/Likely benign	0	6	380	14
MUT:TTN:Arg22799Met	PROT:Q8WZ42	TTN	R	22799	M	R22799M	Likely benign	0	1	380	21
MUT:TTN:Arg23636His	PROT:Q8WZ42	TTN	R	23636	H	R23636H	Benign/Likely benign	0	6	380	8
MUT:TTN:Arg23790His	PROT:Q8WZ42	TTN	R	23790	H	R23790H	Benign/Likely benign	0	6	380	39
MUT:TTN:Arg23998His	PROT:Q8WZ42	TTN	R	23998	H	R23998H	Benign	0	15	380	14
MUT:TTN:Arg24947Cys	PROT:Q8WZ42	TTN	R	24947	C	R24947C	Benign/Likely benign	0	5	380	221
MUT:TTN:Arg25157Gln	PROT:Q8WZ42	TTN	R	25157	Q	R25157Q	Likely benign	0	1	380	46
MUT:TTN:Arg25249Cys	PROT:Q8WZ42	TTN	R	25249	C	R25249C	Benign/Likely benign	0	6	380	41
MUT:TTN:Arg25480Pro	PROT:Q8WZ42	TTN	R	25480	P	R25480P	Likely pathogenic	1	1	380	137
MUT:TTN:Arg25573Gln	PROT:Q8WZ42	TTN	R	25573	Q	R25573Q	Likely benign	0	1	380	44
MUT:TTN:Arg25641His	PROT:Q8WZ42	TTN	R	25641	H	R25641H	Benign/Likely benign	0	3	380	6
MUT:TTN:Arg26440Cys	PROT:Q8WZ42	TTN	R	26440	C	R26440C	Benign/Likely benign	0	6	380	162
MUT:TTN:Arg27176His	PROT:Q8WZ42	TTN	R	27176	H	R27176H	Likely benign	0	1	380	6
MUT:TTN:Arg28118Cys	PROT:Q8WZ42	TTN	R	28118	C	R28118C	Benign/Likely benign	0	6	380	145
MUT:TTN:Arg29293Cys	PROT:Q8WZ42	TTN	R	29293	C	R29293C	Benign/Likely benign	0	6	380	72
MUT:TTN:Arg30323Lys	PROT:Q8WZ42	TTN	R	30323	K	R30323K	Benign/Likely benign	0	6	380	193
MUT:TTN:Arg30628Ser	PROT:Q8WZ42	TTN	R	30628	S	R30628S	Benign/Likely benign	0	6	380	11
MUT:TTN:Arg31185Cys	PROT:Q8WZ42	TTN	R	31185	C	R31185C	Likely benign	0	1	380	22
MUT:TTN:Arg31349His	PROT:Q8WZ42	TTN	R	31349	H	R31349H	Benign/Likely benign	0	7	380	21
MUT:TTN:Arg31382His	PROT:Q8WZ42	TTN	R	31382	H	R31382H	Likely benign	0	1	380	12
MUT:TTN:Arg32033His	PROT:Q8WZ42	TTN	R	32033	H	R32033H	Benign/Likely benign	0	2	380	41
MUT:TTN:Arg32333His	PROT:Q8WZ42	TTN	R	32333	H	R32333H	Benign/Likely benign	0	6	380	8
MUT:TTN:Arg32538His	PROT:Q8WZ42	TTN	R	32538	H	R32538H	Benign/Likely benign	0	5	380	127
MUT:TTN:Arg32587His	PROT:Q8WZ42	TTN	R	32587	H	R32587H	Benign/Likely benign	0	3	380	78
MUT:TTN:Arg32869Pro	PROT:Q8WZ42	TTN	R	32869	P	R32869P	Likely pathogenic	1	1	380	30
MUT:TTN:Arg328Cys	PROT:Q8WZ42	TTN	R	328	C	R328C	Benign/Likely benign	0	5	380	5
MUT:TTN:Arg32971His	PROT:Q8WZ42	TTN	R	32971	H	R32971H	Benign	0	5	380	27
MUT:TTN:Arg33365Gln	PROT:Q8WZ42	TTN	R	33365	Q	R33365Q	Benign/Likely benign	0	8	380	104
MUT:TTN:Arg3367Gln	PROT:Q8WZ42	TTN	R	3367	Q	R3367Q	Benign/Likely benign	0	6	380	9
MUT:TTN:Arg34594His	PROT:Q8WZ42	TTN	R	34594	H	R34594H	Benign/Likely benign	0	5	380	328
MUT:TTN:Arg34859Gln	PROT:Q8WZ42	TTN	R	34859	Q	R34859Q	Benign/Likely benign	0	7	380	593
MUT:TTN:Arg35448Trp	PROT:Q8WZ42	TTN	R	35448	W	R35448W	Likely benign	0	1	380	1182
MUT:TTN:Arg360Thr	PROT:Q8WZ42	TTN	R	360	T	R360T	Benign/Likely benign	0	6	380	37
MUT:TTN:Arg4329Lys	PROT:Q8WZ42	TTN	R	4329	K	R4329K	Benign/Likely benign	0	5	380	0
MUT:TTN:Arg4401Gln	PROT:Q8WZ42	TTN	R	4401	Q	R4401Q	Benign/Likely benign	0	5	380	23
MUT:TTN:Arg4842Lys	PROT:Q8WZ42	TTN	R	4842	K	R4842K	Benign/Likely benign	0	5	380	117
MUT:TTN:Arg5381His	PROT:Q8WZ42	TTN	R	5381	H	R5381H	Likely benign	0	1	380	110
MUT:TTN:Arg5387Lys	PROT:Q8WZ42	TTN	R	5387	K	R5387K	Likely pathogenic	1	1	380	116
MUT:TTN:Arg6582Gln	PROT:Q8WZ42	TTN	R	6582	Q	R6582Q	Likely benign	0	1	380	98
MUT:TTN:Arg740Leu	PROT:Q8WZ42	TTN	R	740	L	R740L	Pathogenic	1	1	380	15
MUT:TTN:Arg8294Gly	PROT:Q8WZ42	TTN	R	8294	G	R8294G	Benign/Likely benign	0	5	380	132
MUT:TTN:Arg8646Cys	PROT:Q8WZ42	TTN	R	8646	C	R8646C	Benign/Likely benign	0	7	380	156
MUT:TTN:Arg922Cys	PROT:Q8WZ42	TTN	R	922	C	R922C	Likely benign	0	1	380	53
MUT:TTN:Arg9438Gln	PROT:Q8WZ42	TTN	R	9438	Q	R9438Q	Benign/Likely benign	0	5	380	126
MUT:TTN:Asn16429Lys	PROT:Q8WZ42	TTN	N	16429	K	N16429K	Likely pathogenic	1	1	380	3
MUT:TTN:Asn16662Thr	PROT:Q8WZ42	TTN	N	16662	T	N16662T	Benign/Likely benign	0	5	380	1
MUT:TTN:Asn18701Asp	PROT:Q8WZ42	TTN	N	18701	D	N18701D	Benign/Likely benign	0	5	380	114
MUT:TTN:Asn22822Ser	PROT:Q8WZ42	TTN	N	22822	S	N22822S	Likely benign	0	1	380	2
MUT:TTN:Asn25085Tyr	PROT:Q8WZ42	TTN	N	25085	Y	N25085Y	Likely benign	0	1	380	118
MUT:TTN:Asn25760Ser	PROT:Q8WZ42	TTN	N	25760	S	N25760S	Benign/Likely benign	0	5	380	38
MUT:TTN:Asn26567Ser	PROT:Q8WZ42	TTN	N	26567	S	N26567S	Benign/Likely benign	0	7	380	35
MUT:TTN:Asn30646Ser	PROT:Q8WZ42	TTN	N	30646	S	N30646S	Benign/Likely benign	0	6	380	29
MUT:TTN:Asn31786Lys	PROT:Q8WZ42	TTN	N	31786	K	N31786K	Pathogenic	1	1	380	9
MUT:TTN:Asn4245His	PROT:Q8WZ42	TTN	N	4245	H	N4245H	Benign/Likely benign	0	5	380	36
MUT:TTN:Asn7744Lys	PROT:Q8WZ42	TTN	N	7744	K	N7744K	Benign/Likely benign	0	7	380	259
MUT:TTN:Asn8803Ser	PROT:Q8WZ42	TTN	N	8803	S	N8803S	Benign/Likely benign	0	5	380	313
MUT:TTN:Asp16407Asn	PROT:Q8WZ42	TTN	D	16407	N	D16407N	Likely benign	0	1	380	5
MUT:TTN:Asp16769Glu	PROT:Q8WZ42	TTN	D	16769	E	D16769E	Likely benign	0	1	380	16
MUT:TTN:Asp18012Glu	PROT:Q8WZ42	TTN	D	18012	E	D18012E	Likely benign	0	1	380	83
MUT:TTN:Asp2243Tyr	PROT:Q8WZ42	TTN	D	2243	Y	D2243Y	Benign/Likely benign	0	6	380	131
MUT:TTN:Asp22512Tyr	PROT:Q8WZ42	TTN	D	22512	Y	D22512Y	Likely benign	0	1	380	13
MUT:TTN:Asp24518Asn	PROT:Q8WZ42	TTN	D	24518	N	D24518N	Likely benign	0	1	380	36
MUT:TTN:Asp26595His	PROT:Q8WZ42	TTN	D	26595	H	D26595H	Benign/Likely benign	0	6	380	7
MUT:TTN:Asp29433Asn	PROT:Q8WZ42	TTN	D	29433	N	D29433N	Benign/Likely benign	0	5	380	68
MUT:TTN:Asp29504Asn	PROT:Q8WZ42	TTN	D	29504	N	D29504N	Benign/Likely benign	0	5	380	37
MUT:TTN:Asp31679Asn	PROT:Q8WZ42	TTN	D	31679	N	D31679N	Benign/Likely benign	0	6	380	76
MUT:TTN:Asp5352Asn	PROT:Q8WZ42	TTN	D	5352	N	D5352N	Pathogenic/Likely pathogenic	1	1	380	81
MUT:TTN:Asp60Tyr	PROT:Q8WZ42	TTN	D	60	Y	D60Y	Benign/Likely benign	0	5	380	3
MUT:TTN:Asp6335Gly	PROT:Q8WZ42	TTN	D	6335	G	D6335G	Benign/Likely benign	0	6	380	345
MUT:TTN:Asp7036Asn	PROT:Q8WZ42	TTN	D	7036	N	D7036N	Benign/Likely benign	0	6	380	113
MUT:TTN:Asp7462His	PROT:Q8WZ42	TTN	D	7462	H	D7462H	Benign/Likely benign	0	5	380	23
MUT:TTN:Asp7596His	PROT:Q8WZ42	TTN	D	7596	H	D7596H	Benign/Likely benign	0	5	380	111
MUT:TTN:Asp8466Glu	PROT:Q8WZ42	TTN	D	8466	E	D8466E	Benign/Likely benign	0	6	380	24
MUT:TTN:Cys31712Arg	PROT:Q8WZ42	TTN	C	31712	R	C31712R	Pathogenic/Likely pathogenic	1	4	380	65
MUT:TTN:Cys5387Tyr	PROT:Q8WZ42	TTN	C	5387	Y	C5387Y	Likely benign	0	2	380	116
MUT:TTN:Cys9195Ser	PROT:Q8WZ42	TTN	C	9195	S	C9195S	Likely benign	0	1	380	8
MUT:TTN:Gln10293Arg	PROT:Q8WZ42	TTN	Q	10293	R	Q10293R	Likely benign	0	1	380	20
MUT:TTN:Gln21915Lys	PROT:Q8WZ42	TTN	Q	21915	K	Q21915K	Benign/Likely benign	0	7	380	62
MUT:TTN:Gln26879Lys	PROT:Q8WZ42	TTN	Q	26879	K	Q26879K	Benign/Likely benign	0	8	380	95
MUT:TTN:Gln3618His	PROT:Q8WZ42	TTN	Q	3618	H	Q3618H	Benign	0	4	380	132
MUT:TTN:Gln4415Leu	PROT:Q8WZ42	TTN	Q	4415	L	Q4415L	Likely benign	0	1	380	9
MUT:TTN:Gln44His	PROT:Q8WZ42	TTN	Q	44	H	Q44H	Likely benign	0	1	380	13
MUT:TTN:Gln44Leu	PROT:Q8WZ42	TTN	Q	44	L	Q44L	Likely benign	0	1	380	13
MUT:TTN:Gln4830Arg	PROT:Q8WZ42	TTN	Q	4830	R	Q4830R	Likely benign	0	1	380	105
MUT:TTN:Gln8542His	PROT:Q8WZ42	TTN	Q	8542	H	Q8542H	Benign	0	5	380	52
MUT:TTN:Glu10318Lys	PROT:Q8WZ42	TTN	E	10318	K	E10318K	Benign/Likely benign	0	6	380	3
MUT:TTN:Glu11590Gly	PROT:Q8WZ42	TTN	E	11590	G	E11590G	Benign/Likely benign	0	7	380	141
MUT:TTN:Glu12042Asp	PROT:Q8WZ42	TTN	E	12042	D	E12042D	Benign/Likely benign	0	5	380	20
MUT:TTN:Glu12100Val	PROT:Q8WZ42	TTN	E	12100	V	E12100V	Benign	0	8	380	10
MUT:TTN:Glu12170Lys	PROT:Q8WZ42	TTN	E	12170	K	E12170K	Benign	0	4	380	60
MUT:TTN:Glu12170Val	PROT:Q8WZ42	TTN	E	12170	V	E12170V	Benign/Likely benign	0	5	380	60
MUT:TTN:Glu12487Asp	PROT:Q8WZ42	TTN	E	12487	D	E12487D	Benign	0	4	380	18
MUT:TTN:Glu12509Lys	PROT:Q8WZ42	TTN	E	12509	K	E12509K	Benign/Likely benign	0	4	380	4
MUT:TTN:Glu13408Gly	PROT:Q8WZ42	TTN	E	13408	G	E13408G	Likely benign	0	1	380	27
MUT:TTN:Glu15069Val	PROT:Q8WZ42	TTN	E	15069	V	E15069V	Benign/Likely benign	0	10	380	20
MUT:TTN:Glu17311Asp	PROT:Q8WZ42	TTN	E	17311	D	E17311D	Likely benign	0	1	380	52
MUT:TTN:Glu17331Gln	PROT:Q8WZ42	TTN	E	17331	Q	E17331Q	Benign/Likely benign	0	5	380	32
MUT:TTN:Glu20019Lys	PROT:Q8WZ42	TTN	E	20019	K	E20019K	Benign/Likely benign	0	6	380	86
MUT:TTN:Glu2305Asp	PROT:Q8WZ42	TTN	E	2305	D	E2305D	Likely benign	0	1	380	193
MUT:TTN:Glu23129Gly	PROT:Q8WZ42	TTN	E	23129	G	E23129G	Likely benign	0	1	380	4
MUT:TTN:Glu35060Asp	PROT:Q8WZ42	TTN	E	35060	D	E35060D	Benign/Likely benign	0	5	380	794
MUT:TTN:Glu35257Lys	PROT:Q8WZ42	TTN	E	35257	K	E35257K	Benign/Likely benign	0	5	380	991
MUT:TTN:Glu4533Asp	PROT:Q8WZ42	TTN	E	4533	D	E4533D	Likely benign	0	1	380	109
MUT:TTN:Glu5195Gly	PROT:Q8WZ42	TTN	E	5195	G	E5195G	Benign/Likely benign	0	5	380	54
MUT:TTN:Glu5963Gly	PROT:Q8WZ42	TTN	E	5963	G	E5963G	Benign/Likely benign	0	6	380	402
MUT:TTN:Glu7321Lys	PROT:Q8WZ42	TTN	E	7321	K	E7321K	Likely pathogenic	1	1	380	9
MUT:TTN:Glu8144Ala	PROT:Q8WZ42	TTN	E	8144	A	E8144A	Benign/Likely benign	0	5	380	282
MUT:TTN:Glu8869Lys	PROT:Q8WZ42	TTN	E	8869	K	E8869K	Likely benign	0	1	380	314
MUT:TTN:Gly10622Arg	PROT:Q8WZ42	TTN	G	10622	R	G10622R	Benign/Likely benign	0	5	380	70
MUT:TTN:Gly11502Val	PROT:Q8WZ42	TTN	G	11502	V	G11502V	Benign/Likely benign	0	6	380	229
MUT:TTN:Gly1163Arg	PROT:Q8WZ42	TTN	G	1163	R	G1163R	Likely pathogenic	1	1	380	39
MUT:TTN:Gly14765Asp	PROT:Q8WZ42	TTN	G	14765	D	G14765D	Likely benign	0	1	380	34
MUT:TTN:Gly1482Ser	PROT:Q8WZ42	TTN	G	1482	S	G1482S	Likely benign	0	1	380	44
MUT:TTN:Gly15988Asp	PROT:Q8WZ42	TTN	G	15988	D	G15988D	Likely benign	0	1	380	168
MUT:TTN:Gly20795Ser	PROT:Q8WZ42	TTN	G	20795	S	G20795S	Likely benign	0	1	380	73
MUT:TTN:Gly21909Cys	PROT:Q8WZ42	TTN	G	21909	C	G21909C	Likely benign	0	1	380	56
MUT:TTN:Gly23566Arg	PROT:Q8WZ42	TTN	G	23566	R	G23566R	Benign/Likely benign	0	7	380	11
MUT:TTN:Gly2392Ser	PROT:Q8WZ42	TTN	G	2392	S	G2392S	Benign/Likely benign	0	5	380	280
MUT:TTN:Gly24325Arg	PROT:Q8WZ42	TTN	G	24325	R	G24325R	Likely benign	0	1	380	86
MUT:TTN:Gly25684Asp	PROT:Q8WZ42	TTN	G	25684	D	G25684D	Likely benign	0	1	380	32
MUT:TTN:Gly26072Asp	PROT:Q8WZ42	TTN	G	26072	D	G26072D	Likely pathogenic	1	1	380	92
MUT:TTN:Gly32467Arg	PROT:Q8WZ42	TTN	G	32467	R	G32467R	Likely pathogenic	1	1	380	126
MUT:TTN:Gly33277Glu	PROT:Q8WZ42	TTN	G	33277	E	G33277E	Benign/Likely benign	0	2	380	16
MUT:TTN:Gly34278Val	PROT:Q8WZ42	TTN	G	34278	V	G34278V	Benign/Likely benign	0	5	380	12
MUT:TTN:Gly3535Arg	PROT:Q8WZ42	TTN	G	3535	R	G3535R	Likely pathogenic	1	1	380	157
MUT:TTN:Gly4023Arg	PROT:Q8WZ42	TTN	G	4023	R	G4023R	Benign/Likely benign	0	1	380	13
MUT:TTN:Gly4620Asp	PROT:Q8WZ42	TTN	G	4620	D	G4620D	Benign/Likely benign	0	6	380	86
MUT:TTN:Gly4832Asp	PROT:Q8WZ42	TTN	G	4832	D	G4832D	Likely benign	0	1	380	107
MUT:TTN:Gly5181Ala	PROT:Q8WZ42	TTN	G	5181	A	G5181A	Benign/Likely benign	0	5	380	40
MUT:TTN:Gly6868Arg	PROT:Q8WZ42	TTN	G	6868	R	G6868R	Benign/Likely benign	0	5	380	52
MUT:TTN:Gly7267Asp	PROT:Q8WZ42	TTN	G	7267	D	G7267D	Benign/Likely benign	0	2	380	63
MUT:TTN:Gly9557Ala	PROT:Q8WZ42	TTN	G	9557	A	G9557A	Likely benign	0	1	380	7
MUT:TTN:His14024Arg	PROT:Q8WZ42	TTN	H	14024	R	H14024R	Benign/Likely benign	0	5	380	241
MUT:TTN:His14171Gln	PROT:Q8WZ42	TTN	H	14171	Q	H14171Q	Likely benign	0	1	380	110
MUT:TTN:His21326Arg	PROT:Q8WZ42	TTN	H	21326	R	H21326R	Likely benign	0	1	380	36
MUT:TTN:His21326Tyr	PROT:Q8WZ42	TTN	H	21326	Y	H21326Y	Likely benign	0	1	380	36
MUT:TTN:His2410Arg	PROT:Q8WZ42	TTN	H	2410	R	H2410R	Likely benign	0	1	380	298
MUT:TTN:His5690Tyr	PROT:Q8WZ42	TTN	H	5690	Y	H5690Y	Likely benign	0	1	380	129
MUT:TTN:His6647Arg	PROT:Q8WZ42	TTN	H	6647	R	H6647R	Likely benign	0	1	380	33
MUT:TTN:Ile10522Val	PROT:Q8WZ42	TTN	I	10522	V	I10522V	Benign/Likely benign	0	5	380	51
MUT:TTN:Ile1393Val	PROT:Q8WZ42	TTN	I	1393	V	I1393V	Benign/Likely benign	0	6	380	11
MUT:TTN:Ile15040Met	PROT:Q8WZ42	TTN	I	15040	M	I15040M	Benign/Likely benign	0	6	380	9
MUT:TTN:Ile1544Val	PROT:Q8WZ42	TTN	I	1544	V	I1544V	Benign/Likely benign	0	6	380	17
MUT:TTN:Ile17731Thr	PROT:Q8WZ42	TTN	I	17731	T	I17731T	Benign/Likely benign	0	5	380	78
MUT:TTN:Ile20181Thr	PROT:Q8WZ42	TTN	I	20181	T	I20181T	Likely pathogenic	1	1	380	72
MUT:TTN:Ile22436Thr	PROT:Q8WZ42	TTN	I	22436	T	I22436T	Likely benign	0	1	380	89
MUT:TTN:Ile23049Val	PROT:Q8WZ42	TTN	I	23049	V	I23049V	Benign/Likely benign	0	12	380	14
MUT:TTN:Ile23417Thr	PROT:Q8WZ42	TTN	I	23417	T	I23417T	Benign/Likely benign	0	5	380	95
MUT:TTN:Ile24255Thr	PROT:Q8WZ42	TTN	I	24255	T	I24255T	Likely benign	0	1	380	16
MUT:TTN:Ile24991Thr	PROT:Q8WZ42	TTN	I	24991	T	I24991T	Benign/Likely benign	0	7	380	212
MUT:TTN:Ile2580Met	PROT:Q8WZ42	TTN	I	2580	M	I2580M	Benign/Likely benign	0	6	380	173
MUT:TTN:Ile26225Thr	PROT:Q8WZ42	TTN	I	26225	T	I26225T	Benign/Likely benign	0	5	380	29
MUT:TTN:Ile26422Thr	PROT:Q8WZ42	TTN	I	26422	T	I26422T	Benign/Likely benign	0	5	380	180
MUT:TTN:Ile27180Thr	PROT:Q8WZ42	TTN	I	27180	T	I27180T	Benign/Likely benign	0	1	380	2
MUT:TTN:Ile27775Val	PROT:Q8WZ42	TTN	I	27775	V	I27775V	Benign/Likely benign	0	5	380	92
MUT:TTN:Ile28051Thr	PROT:Q8WZ42	TTN	I	28051	T	I28051T	Likely benign	0	1	380	78
MUT:TTN:Ile28702Thr	PROT:Q8WZ42	TTN	I	28702	T	I28702T	Likely benign	0	1	380	37
MUT:TTN:Ile28812Val	PROT:Q8WZ42	TTN	I	28812	V	I28812V	Likely benign	0	1	380	69
MUT:TTN:Ile29396Thr	PROT:Q8WZ42	TTN	I	29396	T	I29396T	Benign/Likely benign	0	5	380	31
MUT:TTN:Ile29773Leu	PROT:Q8WZ42	TTN	I	29773	L	I29773L	Benign/Likely benign	0	6	380	52
MUT:TTN:Ile30213Thr	PROT:Q8WZ42	TTN	I	30213	T	I30213T	Benign/Likely benign	0	8	380	204
MUT:TTN:Ile30316Thr	PROT:Q8WZ42	TTN	I	30316	T	I30316T	Likely benign	0	1	380	200
MUT:TTN:Ile30525Val	PROT:Q8WZ42	TTN	I	30525	V	I30525V	Benign/Likely benign	0	16	380	9
MUT:TTN:Ile30670Met	PROT:Q8WZ42	TTN	I	30670	M	I30670M	Likely benign	0	1	380	48
MUT:TTN:Ile30731Val	PROT:Q8WZ42	TTN	I	30731	V	I30731V	Benign/Likely benign	0	6	380	13
MUT:TTN:Ile32053Thr	PROT:Q8WZ42	TTN	I	32053	T	I32053T	Benign	0	5	380	21
MUT:TTN:Ile32722Phe	PROT:Q8WZ42	TTN	I	32722	F	I32722F	Benign/Likely benign	0	5	380	31
MUT:TTN:Ile33245Thr	PROT:Q8WZ42	TTN	I	33245	T	I33245T	Likely benign	0	1	380	0
MUT:TTN:Ile33935Val	PROT:Q8WZ42	TTN	I	33935	V	I33935V	Benign/Likely benign	0	6	380	3
MUT:TTN:Ile35540Thr	PROT:Q8WZ42	TTN	I	35540	T	I35540T	Benign/Likely benign	0	6	380	1274
MUT:TTN:Ile35947Asn	PROT:Q8WZ42	TTN	I	35947	N	I35947N	Pathogenic/Likely pathogenic	1	2	380	1681
MUT:TTN:Ile3895Thr	PROT:Q8WZ42	TTN	I	3895	T	I3895T	Likely benign	0	1	380	39
MUT:TTN:Ile4079Val	PROT:Q8WZ42	TTN	I	4079	V	I4079V	Benign	0	4	380	11
MUT:TTN:Ile4194Phe	PROT:Q8WZ42	TTN	I	4194	F	I4194F	Benign/Likely benign	0	6	380	9
MUT:TTN:Ile4449Met	PROT:Q8WZ42	TTN	I	4449	M	I4449M	Benign/Likely benign	0	2	380	25
MUT:TTN:Ile4936Met	PROT:Q8WZ42	TTN	I	4936	M	I4936M	Likely benign	0	1	380	136
MUT:TTN:Ile5736Thr	PROT:Q8WZ42	TTN	I	5736	T	I5736T	Likely benign	0	1	380	175
MUT:TTN:Ile6877Thr	PROT:Q8WZ42	TTN	I	6877	T	I6877T	Benign/Likely benign	0	2	380	43
MUT:TTN:Ile7304Thr	PROT:Q8WZ42	TTN	I	7304	T	I7304T	Likely benign	0	1	380	26
MUT:TTN:Ile8054Leu	PROT:Q8WZ42	TTN	I	8054	L	I8054L	Benign/Likely benign	0	6	380	372
MUT:TTN:Ile9718Thr	PROT:Q8WZ42	TTN	I	9718	T	I9718T	Benign/Likely benign	0	5	380	154
MUT:TTN:Leu10784Val	PROT:Q8WZ42	TTN	L	10784	V	L10784V	Benign/Likely benign	0	7	380	78
MUT:TTN:Leu12775Phe	PROT:Q8WZ42	TTN	L	12775	F	L12775F	Benign/Likely benign	0	4	380	127
MUT:TTN:Leu12918Ser	PROT:Q8WZ42	TTN	L	12918	S	L12918S	Benign	0	4	380	0
MUT:TTN:Leu1443Pro	PROT:Q8WZ42	TTN	L	1443	P	L1443P	Benign/Likely benign	0	6	380	5
MUT:TTN:Leu15260Pro	PROT:Q8WZ42	TTN	L	15260	P	L15260P	Likely benign	0	1	380	47
MUT:TTN:Leu19559Gln	PROT:Q8WZ42	TTN	L	19559	Q	L19559Q	Benign/Likely benign	0	4	380	21
MUT:TTN:Leu21359Phe	PROT:Q8WZ42	TTN	L	21359	F	L21359F	Likely benign	0	1	380	69
MUT:TTN:Leu2592Arg	PROT:Q8WZ42	TTN	L	2592	R	L2592R	Likely benign	0	1	380	161
MUT:TTN:Leu31852Pro	PROT:Q8WZ42	TTN	L	31852	P	L31852P	Benign/Likely benign	0	6	380	16
MUT:TTN:Leu33911Phe	PROT:Q8WZ42	TTN	L	33911	F	L33911F	Likely benign	0	1	380	11
MUT:TTN:Leu34177Val	PROT:Q8WZ42	TTN	L	34177	V	L34177V	Likely benign	0	1	380	89
MUT:TTN:Leu34783Phe	PROT:Q8WZ42	TTN	L	34783	F	L34783F	Benign/Likely benign	0	8	380	517
MUT:TTN:Leu35956Pro	PROT:Q8WZ42	TTN	L	35956	P	L35956P	Likely pathogenic	1	2	380	1690
MUT:TTN:Leu3907Val	PROT:Q8WZ42	TTN	L	3907	V	L3907V	Benign/Likely benign	0	5	380	27
MUT:TTN:Leu4600Phe	PROT:Q8WZ42	TTN	L	4600	F	L4600F	Benign	0	4	380	106
MUT:TTN:Lys1201Glu	PROT:Q8WZ42	TTN	K	1201	E	K1201E	Benign	0	5	380	77
MUT:TTN:Lys12226Glu	PROT:Q8WZ42	TTN	K	12226	E	K12226E	Benign/Likely benign	0	5	380	41
MUT:TTN:Lys12312Asn	PROT:Q8WZ42	TTN	K	12312	N	K12312N	Likely benign	0	1	380	24
MUT:TTN:Lys12793Arg	PROT:Q8WZ42	TTN	K	12793	R	K12793R	Benign/Likely benign	0	4	380	109
MUT:TTN:Lys12992Ile	PROT:Q8WZ42	TTN	K	12992	I	K12992I	Likely benign	0	2	380	50
MUT:TTN:Lys13007Thr	PROT:Q8WZ42	TTN	K	13007	T	K13007T	Likely benign	0	1	380	35
MUT:TTN:Lys14320Glu	PROT:Q8WZ42	TTN	K	14320	E	K14320E	Benign/Likely benign	0	5	380	39
MUT:TTN:Lys17708Ile	PROT:Q8WZ42	TTN	K	17708	I	K17708I	Benign/Likely benign	0	5	380	55
MUT:TTN:Lys18628Glu	PROT:Q8WZ42	TTN	K	18628	E	K18628E	Likely benign	0	1	380	41
MUT:TTN:Lys19119Met	PROT:Q8WZ42	TTN	K	19119	M	K19119M	Likely benign	0	1	380	16
MUT:TTN:Lys22326Arg	PROT:Q8WZ42	TTN	K	22326	R	K22326R	Benign/Likely benign	0	4	380	51
MUT:TTN:Lys28564Ile	PROT:Q8WZ42	TTN	K	28564	I	K28564I	Benign/Likely benign	0	6	380	73
MUT:TTN:Lys3154Arg	PROT:Q8WZ42	TTN	K	3154	R	K3154R	Benign/Likely benign	0	5	380	222
MUT:TTN:Lys34197Thr	PROT:Q8WZ42	TTN	K	34197	T	K34197T	Likely benign	0	1	380	69
MUT:TTN:Lys4646Glu	PROT:Q8WZ42	TTN	K	4646	E	K4646E	Benign/Likely benign	0	1	380	60
MUT:TTN:Lys6970Gln	PROT:Q8WZ42	TTN	K	6970	Q	K6970Q	Likely benign	0	1	380	47
MUT:TTN:Lys8325Glu	PROT:Q8WZ42	TTN	K	8325	E	K8325E	Benign/Likely benign	0	6	380	101
MUT:TTN:Met10885Ile	PROT:Q8WZ42	TTN	M	10885	I	M10885I	Likely benign	0	1	380	37
MUT:TTN:Met2610Ile	PROT:Q8WZ42	TTN	M	2610	I	M2610I	Benign/Likely benign	0	5	380	143
MUT:TTN:Met2913Thr	PROT:Q8WZ42	TTN	M	2913	T	M2913T	Likely benign	0	1	380	151
MUT:TTN:Met34793Leu	PROT:Q8WZ42	TTN	M	34793	L	M34793L	Benign/Likely benign	0	6	380	527
MUT:TTN:Met6402Thr	PROT:Q8WZ42	TTN	M	6402	T	M6402T	Likely benign	0	1	380	278
MUT:TTN:Met6402Val	PROT:Q8WZ42	TTN	M	6402	V	M6402V	Benign/Likely benign	0	6	380	278
MUT:TTN:Met6716Lys	PROT:Q8WZ42	TTN	M	6716	K	M6716K	Benign/Likely benign	0	6	380	30
MUT:TTN:Phe18719Leu	PROT:Q8WZ42	TTN	F	18719	L	F18719L	Likely benign	0	1	380	132
MUT:TTN:Phe1959Ile	PROT:Q8WZ42	TTN	F	1959	I	F1959I	Benign	0	5	380	102
MUT:TTN:Phe6630Leu	PROT:Q8WZ42	TTN	F	6630	L	F6630L	Likely benign	0	1	380	50
MUT:TTN:Pro11492Thr	PROT:Q8WZ42	TTN	P	11492	T	P11492T	Benign/Likely benign	0	1	380	239
MUT:TTN:Pro12337Ser	PROT:Q8WZ42	TTN	P	12337	S	P12337S	Benign/Likely benign	0	4	380	1
MUT:TTN:Pro12977Ser	PROT:Q8WZ42	TTN	P	12977	S	P12977S	Benign/Likely benign	0	4	380	59
MUT:TTN:Pro13029Thr	PROT:Q8WZ42	TTN	P	13029	T	P13029T	Benign/Likely benign	0	6	380	13
MUT:TTN:Pro13235Arg	PROT:Q8WZ42	TTN	P	13235	R	P13235R	Benign/Likely benign	0	6	380	70
MUT:TTN:Pro13378Leu	PROT:Q8WZ42	TTN	P	13378	L	P13378L	Likely benign	0	1	380	57
MUT:TTN:Pro13417Leu	PROT:Q8WZ42	TTN	P	13417	L	P13417L	Benign/Likely benign	0	5	380	18
MUT:TTN:Pro13823Ala	PROT:Q8WZ42	TTN	P	13823	A	P13823A	Likely pathogenic	1	1	380	40
MUT:TTN:Pro1744Leu	PROT:Q8WZ42	TTN	P	1744	L	P1744L	Benign/Likely benign	0	6	380	47
MUT:TTN:Pro19772Leu	PROT:Q8WZ42	TTN	P	19772	L	P19772L	Benign/Likely benign	0	4	380	9
MUT:TTN:Pro19862Leu	PROT:Q8WZ42	TTN	P	19862	L	P19862L	Benign/Likely benign	0	5	380	78
MUT:TTN:Pro19974Thr	PROT:Q8WZ42	TTN	P	19974	T	P19974T	Likely benign	0	1	380	131
MUT:TTN:Pro20274Leu	PROT:Q8WZ42	TTN	P	20274	L	P20274L	Benign/Likely benign	0	7	380	21
MUT:TTN:Pro20374Leu	PROT:Q8WZ42	TTN	P	20374	L	P20374L	Likely benign	0	1	380	21
MUT:TTN:Pro21191Thr	PROT:Q8WZ42	TTN	P	21191	T	P21191T	Likely benign	0	1	380	99
MUT:TTN:Pro23044Ser	PROT:Q8WZ42	TTN	P	23044	S	P23044S	Benign/Likely benign	0	6	380	19
MUT:TTN:Pro23247Leu	PROT:Q8WZ42	TTN	P	23247	L	P23247L	Benign/Likely benign	0	6	380	46
MUT:TTN:Pro25508Gln	PROT:Q8WZ42	TTN	P	25508	Q	P25508Q	Benign	0	4	380	109
MUT:TTN:Pro27361Ala	PROT:Q8WZ42	TTN	P	27361	A	P27361A	Benign/Likely benign	0	8	380	58
MUT:TTN:Pro27460Ser	PROT:Q8WZ42	TTN	P	27460	S	P27460S	Likely benign	0	1	380	41
MUT:TTN:Pro28154Leu	PROT:Q8WZ42	TTN	P	28154	L	P28154L	Benign/Likely benign	0	6	380	181
MUT:TTN:Pro30530Leu	PROT:Q8WZ42	TTN	P	30530	L	P30530L	Likely benign	0	2	380	14
MUT:TTN:Pro30962Ser	PROT:Q8WZ42	TTN	P	30962	S	P30962S	Likely benign	0	1	380	14
MUT:TTN:Pro31732Leu	PROT:Q8WZ42	TTN	P	31732	L	P31732L	Pathogenic/Likely pathogenic	1	6	380	45
MUT:TTN:Pro324Ser	PROT:Q8WZ42	TTN	P	324	S	P324S	Benign/Likely benign	0	5	380	1
MUT:TTN:Pro33487Ser	PROT:Q8WZ42	TTN	P	33487	S	P33487S	Benign/Likely benign	0	5	380	102
MUT:TTN:Pro33979Arg	PROT:Q8WZ42	TTN	P	33979	R	P33979R	Likely benign	0	1	380	3
MUT:TTN:Pro35156Arg	PROT:Q8WZ42	TTN	P	35156	R	P35156R	Likely benign	0	1	380	890
MUT:TTN:Pro35261Leu	PROT:Q8WZ42	TTN	P	35261	L	P35261L	Benign/Likely benign	0	5	380	995
MUT:TTN:Pro3808Ser	PROT:Q8WZ42	TTN	P	3808	S	P3808S	Benign	0	4	380	58
MUT:TTN:Pro3990Leu	PROT:Q8WZ42	TTN	P	3990	L	P3990L	Benign/Likely benign	0	5	380	20
MUT:TTN:Pro4349Thr	PROT:Q8WZ42	TTN	P	4349	T	P4349T	Likely benign	0	1	380	20
MUT:TTN:Pro4650Ser	PROT:Q8WZ42	TTN	P	4650	S	P4650S	Benign/Likely benign	0	2	380	56
MUT:TTN:Pro4995Arg	PROT:Q8WZ42	TTN	P	4995	R	P4995R	Benign/Likely benign	0	7	380	77
MUT:TTN:Pro757Leu	PROT:Q8WZ42	TTN	P	757	L	P757L	Benign/Likely benign	0	6	380	2
MUT:TTN:Pro8894Leu	PROT:Q8WZ42	TTN	P	8894	L	P8894L	Benign/Likely benign	0	5	380	289
MUT:TTN:Ser12416Leu	PROT:Q8WZ42	TTN	S	12416	L	S12416L	Benign/Likely benign	0	4	380	80
MUT:TTN:Ser1295Leu	PROT:Q8WZ42	TTN	S	1295	L	S1295L	Benign	0	5	380	53
MUT:TTN:Ser181Asn	PROT:Q8WZ42	TTN	S	181	N	S181N	Benign/Likely benign	0	6	380	69
MUT:TTN:Ser18873Gly	PROT:Q8WZ42	TTN	S	18873	G	S18873G	Likely benign	0	1	380	7
MUT:TTN:Ser19273Thr	PROT:Q8WZ42	TTN	S	19273	T	S19273T	Likely benign	0	1	380	1
MUT:TTN:Ser21716Leu	PROT:Q8WZ42	TTN	S	21716	L	S21716L	Benign/Likely benign	0	5	380	4
MUT:TTN:Ser23226Gly	PROT:Q8WZ42	TTN	S	23226	G	S23226G	Benign/Likely benign	0	23	380	27
MUT:TTN:Ser23425Thr	PROT:Q8WZ42	TTN	S	23425	T	S23425T	Likely benign	0	1	380	87
MUT:TTN:Ser24064Asn	PROT:Q8WZ42	TTN	S	24064	N	S24064N	Likely benign	0	1	380	48
MUT:TTN:Ser25320Ala	PROT:Q8WZ42	TTN	S	25320	A	S25320A	Likely benign	0	1	380	112
MUT:TTN:Ser25448Asn	PROT:Q8WZ42	TTN	S	25448	N	S25448N	Benign/Likely benign	0	5	380	169
MUT:TTN:Ser28021Tyr	PROT:Q8WZ42	TTN	S	28021	Y	S28021Y	Likely benign	0	1	380	48
MUT:TTN:Ser2831Asn	PROT:Q8WZ42	TTN	S	2831	N	S2831N	Benign/Likely benign	0	5	380	69
MUT:TTN:Ser31565Pro	PROT:Q8WZ42	TTN	S	31565	P	S31565P	Likely benign	0	1	380	38
MUT:TTN:Ser31683Gly	PROT:Q8WZ42	TTN	S	31683	G	S31683G	Benign/Likely benign	0	5	380	80
MUT:TTN:Ser31718Arg	PROT:Q8WZ42	TTN	S	31718	R	S31718R	Likely benign	0	1	380	59
MUT:TTN:Ser33884Cys	PROT:Q8WZ42	TTN	S	33884	C	S33884C	Likely benign	0	1	380	16
MUT:TTN:Ser3419Asn	PROT:Q8WZ42	TTN	S	3419	N	S3419N	Benign	0	5	380	41
MUT:TTN:Ser3567Asn	PROT:Q8WZ42	TTN	S	3567	N	S3567N	Benign/Likely benign	0	4	380	183
MUT:TTN:Ser3617Phe	PROT:Q8WZ42	TTN	S	3617	F	S3617F	Benign	0	5	380	133
MUT:TTN:Ser3644Asn	PROT:Q8WZ42	TTN	S	3644	N	S3644N	Benign/Likely benign	0	4	380	106
MUT:TTN:Ser4569Asn	PROT:Q8WZ42	TTN	S	4569	N	S4569N	Benign/Likely benign	0	5	380	137
MUT:TTN:Ser4723Pro	PROT:Q8WZ42	TTN	S	4723	P	S4723P	Likely benign	0	1	380	2
MUT:TTN:Ser4922Asn	PROT:Q8WZ42	TTN	S	4922	N	S4922N	Benign/Likely benign	0	6	380	150
MUT:TTN:Ser5118Arg	PROT:Q8WZ42	TTN	S	5118	R	S5118R	Likely benign	0	1	380	23
MUT:TTN:Ser5217Asn	PROT:Q8WZ42	TTN	S	5217	N	S5217N	Likely benign	0	1	380	53
MUT:TTN:Ser5767Asn	PROT:Q8WZ42	TTN	S	5767	N	S5767N	Benign/Likely benign	0	5	380	206
MUT:TTN:Ser6434Asn	PROT:Q8WZ42	TTN	S	6434	N	S6434N	Benign/Likely benign	0	5	380	246
MUT:TTN:Ser7260Tyr	PROT:Q8WZ42	TTN	S	7260	Y	S7260Y	Benign/Likely benign	0	6	380	70
MUT:TTN:Ser7494Pro	PROT:Q8WZ42	TTN	S	7494	P	S7494P	Likely pathogenic	1	1	380	9
MUT:TTN:Ser7788Phe	PROT:Q8WZ42	TTN	S	7788	F	S7788F	Likely benign	0	1	380	303
MUT:TTN:Ser8425Asn	PROT:Q8WZ42	TTN	S	8425	N	S8425N	Benign/Likely benign	0	5	380	1
MUT:TTN:Ser9657Leu	PROT:Q8WZ42	TTN	S	9657	L	S9657L	Benign/Likely benign	0	4	380	93
MUT:TTN:Thr1580Met	PROT:Q8WZ42	TTN	T	1580	M	T1580M	Benign/Likely benign	0	6	380	19
MUT:TTN:Thr18316Ser	PROT:Q8WZ42	TTN	T	18316	S	T18316S	Benign/Likely benign	0	4	380	36
MUT:TTN:Thr19538Ala	PROT:Q8WZ42	TTN	T	19538	A	T19538A	Benign/Likely benign	0	5	380	0
MUT:TTN:Thr2014Ala	PROT:Q8WZ42	TTN	T	2014	A	T2014A	Likely benign	0	1	380	60
MUT:TTN:Thr20284Ala	PROT:Q8WZ42	TTN	T	20284	A	T20284A	Benign	0	1	380	31
MUT:TTN:Thr21008Ile	PROT:Q8WZ42	TTN	T	21008	I	T21008I	Benign/Likely benign	0	6	380	25
MUT:TTN:Thr21403Ile	PROT:Q8WZ42	TTN	T	21403	I	T21403I	Benign/Likely benign	0	5	380	52
MUT:TTN:Thr23202Ala	PROT:Q8WZ42	TTN	T	23202	A	T23202A	Likely benign	0	1	380	3
MUT:TTN:Thr24038Met	PROT:Q8WZ42	TTN	T	24038	M	T24038M	Benign/Likely benign	0	6	380	26
MUT:TTN:Thr25580Met	PROT:Q8WZ42	TTN	T	25580	M	T25580M	Benign/Likely benign	0	6	380	37
MUT:TTN:Thr25880Ala	PROT:Q8WZ42	TTN	T	25880	A	T25880A	Benign/Likely benign	0	5	380	71
MUT:TTN:Thr26499Ala	PROT:Q8WZ42	TTN	T	26499	A	T26499A	Likely benign	0	1	380	103
MUT:TTN:Thr26538Ala	PROT:Q8WZ42	TTN	T	26538	A	T26538A	Benign/Likely benign	0	7	380	64
MUT:TTN:Thr26575Ile	PROT:Q8WZ42	TTN	T	26575	I	T26575I	Likely benign	0	1	380	27
MUT:TTN:Thr26621Met	PROT:Q8WZ42	TTN	T	26621	M	T26621M	Benign/Likely benign	0	5	380	19
MUT:TTN:Thr27462Lys	PROT:Q8WZ42	TTN	T	27462	K	T27462K	Benign/Likely benign	0	6	380	43
MUT:TTN:Thr27971Ser	PROT:Q8WZ42	TTN	T	27971	S	T27971S	Likely benign	0	1	380	2
MUT:TTN:Thr29053Ile	PROT:Q8WZ42	TTN	T	29053	I	T29053I	Likely benign	0	1	380	51
MUT:TTN:Thr29567Asn	PROT:Q8WZ42	TTN	T	29567	N	T29567N	Likely benign	0	1	380	5
MUT:TTN:Thr2963Pro	PROT:Q8WZ42	TTN	T	2963	P	T2963P	Benign	0	4	380	201
MUT:TTN:Thr29747Ser	PROT:Q8WZ42	TTN	T	29747	S	T29747S	Benign/Likely benign	0	5	380	26
MUT:TTN:Thr32315Ile	PROT:Q8WZ42	TTN	T	32315	I	T32315I	Benign/Likely benign	0	6	380	2
MUT:TTN:Thr3576Ala	PROT:Q8WZ42	TTN	T	3576	A	T3576A	Benign/Likely benign	0	4	380	174
MUT:TTN:Thr3914Arg	PROT:Q8WZ42	TTN	T	3914	R	T3914R	Benign/Likely benign	0	3	380	20
MUT:TTN:Thr4078Ile	PROT:Q8WZ42	TTN	T	4078	I	T4078I	Benign/Likely benign	0	6	380	10
MUT:TTN:Thr4532Pro	PROT:Q8WZ42	TTN	T	4532	P	T4532P	Benign	0	4	380	108
MUT:TTN:Thr5287Met	PROT:Q8WZ42	TTN	T	5287	M	T5287M	Benign/Likely benign	0	5	380	16
MUT:TTN:Thr5771Ser	PROT:Q8WZ42	TTN	T	5771	S	T5771S	Benign/Likely benign	0	6	380	210
MUT:TTN:Thr6659Met	PROT:Q8WZ42	TTN	T	6659	M	T6659M	Benign/Likely benign	0	5	380	21
MUT:TTN:Thr811Ile	PROT:Q8WZ42	TTN	T	811	I	T811I	Benign/Likely benign	0	5	380	0
MUT:TTN:Thr8408Ile	PROT:Q8WZ42	TTN	T	8408	I	T8408I	Benign/Likely benign	0	5	380	18
MUT:TTN:Thr9938Ser	PROT:Q8WZ42	TTN	T	9938	S	T9938S	Benign/Likely benign	0	6	380	374
MUT:TTN:Thr9957Ile	PROT:Q8WZ42	TTN	T	9957	I	T9957I	Likely pathogenic	1	1	380	356
MUT:TTN:Trp20392Gly	PROT:Q8WZ42	TTN	W	20392	G	W20392G	Likely benign	0	1	380	3
MUT:TTN:Trp31729Arg	PROT:Q8WZ42	TTN	W	31729	R	W31729R	Pathogenic	1	2	380	48
MUT:TTN:Trp31729Cys	PROT:Q8WZ42	TTN	W	31729	C	W31729C	Pathogenic/Likely pathogenic	1	1	380	48
MUT:TTN:Trp31729Leu	PROT:Q8WZ42	TTN	W	31729	L	W31729L	Pathogenic	1	1	380	48
MUT:TTN:Trp34072Arg	PROT:Q8WZ42	TTN	W	34072	R	W34072R	Pathogenic/Likely pathogenic	1	2	380	96
MUT:TTN:Trp976Arg	PROT:Q8WZ42	TTN	W	976	R	W976R	Likely pathogenic	1	2	380	107
MUT:TTN:Tyr25574His	PROT:Q8WZ42	TTN	Y	25574	H	Y25574H	Benign/Likely benign	0	5	380	43
MUT:TTN:Tyr3038His	PROT:Q8WZ42	TTN	Y	3038	H	Y3038H	Likely pathogenic	1	1	380	276
MUT:TTN:Tyr4659Cys	PROT:Q8WZ42	TTN	Y	4659	C	Y4659C	Benign/Likely benign	0	7	380	47
MUT:TTN:Tyr5510Cys	PROT:Q8WZ42	TTN	Y	5510	C	Y5510C	Benign/Likely benign	0	6	380	40
MUT:TTN:Tyr6430Cys	PROT:Q8WZ42	TTN	Y	6430	C	Y6430C	Likely benign	0	1	380	250
MUT:TTN:Val10752Ile	PROT:Q8WZ42	TTN	V	10752	I	V10752I	Benign/Likely benign	0	5	380	46
MUT:TTN:Val12209Leu	PROT:Q8WZ42	TTN	V	12209	L	V12209L	Benign	0	4	380	58
MUT:TTN:Val12569Ile	PROT:Q8WZ42	TTN	V	12569	I	V12569I	Benign	0	4	380	15
MUT:TTN:Val12585Met	PROT:Q8WZ42	TTN	V	12585	M	V12585M	Likely benign	0	1	380	6
MUT:TTN:Val13028Met	PROT:Q8WZ42	TTN	V	13028	M	V13028M	Benign/Likely benign	0	7	380	14
MUT:TTN:Val13520Leu	PROT:Q8WZ42	TTN	V	13520	L	V13520L	Pathogenic/Likely pathogenic	1	4	380	85
MUT:TTN:Val14347Ile	PROT:Q8WZ42	TTN	V	14347	I	V14347I	Likely benign	0	1	380	25
MUT:TTN:Val15347Gly	PROT:Q8WZ42	TTN	V	15347	G	V15347G	Likely benign	0	1	380	134
MUT:TTN:Val15381Ala	PROT:Q8WZ42	TTN	V	15381	A	V15381A	Benign/Likely benign	0	4	380	160
MUT:TTN:Val15750Ile	PROT:Q8WZ42	TTN	V	15750	I	V15750I	Benign/Likely benign	0	3	380	68
MUT:TTN:Val17719Ala	PROT:Q8WZ42	TTN	V	17719	A	V17719A	Likely benign	0	1	380	66
MUT:TTN:Val17723Ala	PROT:Q8WZ42	TTN	V	17723	A	V17723A	Likely benign	0	1	380	70
MUT:TTN:Val19088Leu	PROT:Q8WZ42	TTN	V	19088	L	V19088L	Likely pathogenic	1	1	380	1
MUT:TTN:Val19722Ala	PROT:Q8WZ42	TTN	V	19722	A	V19722A	Benign/Likely benign	0	5	380	19
MUT:TTN:Val20078Met	PROT:Q8WZ42	TTN	V	20078	M	V20078M	Benign/Likely benign	0	5	380	27
MUT:TTN:Val20164Leu	PROT:Q8WZ42	TTN	V	20164	L	V20164L	Benign/Likely benign	0	6	380	59
MUT:TTN:Val21358Met	PROT:Q8WZ42	TTN	V	21358	M	V21358M	Likely benign	0	1	380	68
MUT:TTN:Val21794Leu	PROT:Q8WZ42	TTN	V	21794	L	V21794L	Benign	0	1	380	0
MUT:TTN:Val21926Met	PROT:Q8WZ42	TTN	V	21926	M	V21926M	Benign/Likely benign	0	2	380	73
MUT:TTN:Val22359Ile	PROT:Q8WZ42	TTN	V	22359	I	V22359I	Benign/Likely benign	0	5	380	84
MUT:TTN:Val24989Met	PROT:Q8WZ42	TTN	V	24989	M	V24989M	Benign/Likely benign	0	6	380	214
MUT:TTN:Val26040Phe	PROT:Q8WZ42	TTN	V	26040	F	V26040F	Likely benign	0	1	380	89
MUT:TTN:Val27686Ile	PROT:Q8WZ42	TTN	V	27686	I	V27686I	Benign/Likely benign	0	6	380	181
MUT:TTN:Val2823Phe	PROT:Q8WZ42	TTN	V	2823	F	V2823F	Benign/Likely benign	0	6	380	61
MUT:TTN:Val30711Met	PROT:Q8WZ42	TTN	V	30711	M	V30711M	Benign/Likely benign	0	5	380	7
MUT:TTN:Val31301Ile	PROT:Q8WZ42	TTN	V	31301	I	V31301I	Benign/Likely benign	0	6	380	41
MUT:TTN:Val3261Met	PROT:Q8WZ42	TTN	V	3261	M	V3261M	Benign	0	5	380	115
MUT:TTN:Val33366Ile	PROT:Q8WZ42	TTN	V	33366	I	V33366I	Benign/Likely benign	0	5	380	105
MUT:TTN:Val33527Ile	PROT:Q8WZ42	TTN	V	33527	I	V33527I	Benign/Likely benign	0	5	380	62
MUT:TTN:Val335Met	PROT:Q8WZ42	TTN	V	335	M	V335M	Benign/Likely benign	0	6	380	12
MUT:TTN:Val35177Met	PROT:Q8WZ42	TTN	V	35177	M	V35177M	Benign/Likely benign	0	6	380	911
MUT:TTN:Val35756Ala	PROT:Q8WZ42	TTN	V	35756	A	V35756A	Benign/Likely benign	0	5	380	1490
MUT:TTN:Val3836Ala	PROT:Q8WZ42	TTN	V	3836	A	V3836A	Likely benign	0	1	380	86
MUT:TTN:Val4389Ile	PROT:Q8WZ42	TTN	V	4389	I	V4389I	Benign/Likely benign	0	1	380	35
MUT:TTN:Val498Ile	PROT:Q8WZ42	TTN	V	498	I	V498I	Benign/Likely benign	0	6	380	175
MUT:TTN:Val5060Ile	PROT:Q8WZ42	TTN	V	5060	I	V5060I	Benign/Likely benign	0	8	380	12
MUT:TTN:Val5284Met	PROT:Q8WZ42	TTN	V	5284	M	V5284M	Benign/Likely benign	0	4	380	13
MUT:TTN:Val5428Met	PROT:Q8WZ42	TTN	V	5428	M	V5428M	Likely benign	0	1	380	122
MUT:TTN:Val6407Ala	PROT:Q8WZ42	TTN	V	6407	A	V6407A	Likely benign	0	1	380	273
MUT:TTN:Val8749Ile	PROT:Q8WZ42	TTN	V	8749	I	V8749I	Benign/Likely benign	0	5	380	259
MUT:TTN:Val9409Met	PROT:Q8WZ42	TTN	V	9409	M	V9409M	Likely benign	0	1	380	155
MUT:TTN:Val9710Ile	PROT:Q8WZ42	TTN	V	9710	I	V9710I	Benign/Likely benign	0	6	380	146
MUT:TTN:Val97Met	PROT:Q8WZ42	TTN	V	97	M	V97M	Benign/Likely benign	0	4	380	15
MUT:TTPA:Ala120Thr	PROT:P49638	TTPA	A	120	T	A120T	Pathogenic/Likely pathogenic	1	1	4	5
MUT:TTPA:Ala58Asp	PROT:P49638	TTPA	A	58	D	A58D	Likely pathogenic	1	1	4	42
MUT:TTPA:Ala58Pro	PROT:P49638	TTPA	A	58	P	A58P	Likely pathogenic	1	1	4	42
MUT:TTPA:Arg221Trp	PROT:P49638	TTPA	R	221	W	R221W	Pathogenic/Likely pathogenic	1	4	4	4
MUT:TTPA:Glu141Lys	PROT:P49638	TTPA	E	141	K	E141K	Pathogenic/Likely pathogenic	1	1	4	16
MUT:TTPA:His101Gln	PROT:P49638	TTPA	H	101	Q	H101Q	Pathogenic/Likely pathogenic	1	2	4	1
MUT:TTPA:Met1Leu	PROT:P49638	TTPA	M	1	L	M1L	Pathogenic	1	1	4	99
MUT:TTPA:Met1Lys	PROT:P49638	TTPA	M	1	K	M1K	Pathogenic/Likely pathogenic	1	1	4	99
MUT:TTPA:Met1Thr	PROT:P49638	TTPA	M	1	T	M1T	Pathogenic/Likely pathogenic	1	2	4	99
MUT:TUB:Glu205Gly	PROT:P50607	TUB	E	205	G	E205G	Likely benign	0	1	1	147
MUT:TUB:Gly118Asp	PROT:P50607	TUB	G	118	D	G118D	Likely benign	0	1	1	234
MUT:TUB:Ile263Val	PROT:P50607	TUB	I	263	V	I263V	Likely benign	0	1	1	89
MUT:TUB:Val228Ile	PROT:P50607	TUB	V	228	I	V228I	Likely benign	0	1	1	124
MUT:TUBA1A:Ala180Val	PROT:Q71U36	TUBA1A	A	180	V	A180V	Likely pathogenic	1	1	76	5
MUT:TUBA1A:Ala201Val	PROT:Q71U36	TUBA1A	A	201	V	A201V	Likely pathogenic	1	1	76	8
MUT:TUBA1A:Ala240Gly	PROT:Q71U36	TUBA1A	A	240	G	A240G	Likely pathogenic	1	1	76	13
MUT:TUBA1A:Ala270Ser	PROT:Q71U36	TUBA1A	A	270	S	A270S	Pathogenic/Likely pathogenic	1	2	76	2
MUT:TUBA1A:Ala270Thr	PROT:Q71U36	TUBA1A	A	270	T	A270T	Pathogenic/Likely pathogenic	1	1	76	2
MUT:TUBA1A:Ala273Asp	PROT:Q71U36	TUBA1A	A	273	D	A273D	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Ala333Val	PROT:Q71U36	TUBA1A	A	333	V	A333V	Pathogenic	1	1	76	1
MUT:TUBA1A:Ala369Thr	PROT:Q71U36	TUBA1A	A	369	T	A369T	Pathogenic/Likely pathogenic	1	2	76	1
MUT:TUBA1A:Ala383Asp	PROT:Q71U36	TUBA1A	A	383	D	A383D	Pathogenic/Likely pathogenic	1	1	76	4
MUT:TUBA1A:Ala383Val	PROT:Q71U36	TUBA1A	A	383	V	A383V	Pathogenic/Likely pathogenic	1	3	76	4
MUT:TUBA1A:Ala387Thr	PROT:Q71U36	TUBA1A	A	387	T	A387T	Likely pathogenic	1	1	76	7
MUT:TUBA1A:Ala387Val	PROT:Q71U36	TUBA1A	A	387	V	A387V	Pathogenic	1	1	76	7
MUT:TUBA1A:Ala421Thr	PROT:Q71U36	TUBA1A	A	421	T	A421T	Likely pathogenic	1	1	76	2
MUT:TUBA1A:Arg123Cys	PROT:Q71U36	TUBA1A	R	123	C	R123C	Pathogenic/Likely pathogenic	1	3	76	1
MUT:TUBA1A:Arg123His	PROT:Q71U36	TUBA1A	R	123	H	R123H	Pathogenic/Likely pathogenic	1	2	76	1
MUT:TUBA1A:Arg156His	PROT:Q71U36	TUBA1A	R	156	H	R156H	Pathogenic/Likely pathogenic	1	1	76	2
MUT:TUBA1A:Arg214His	PROT:Q71U36	TUBA1A	R	214	H	R214H	Pathogenic/Likely pathogenic	1	2	76	4
MUT:TUBA1A:Arg214Leu	PROT:Q71U36	TUBA1A	R	214	L	R214L	Pathogenic/Likely pathogenic	1	1	76	4
MUT:TUBA1A:Arg221Gly	PROT:Q71U36	TUBA1A	R	221	G	R221G	Likely pathogenic	1	1	76	2
MUT:TUBA1A:Arg264Cys	PROT:Q71U36	TUBA1A	R	264	C	R264C	Pathogenic	1	3	76	2
MUT:TUBA1A:Arg264His	PROT:Q71U36	TUBA1A	R	264	H	R264H	Pathogenic/Likely pathogenic	1	2	76	2
MUT:TUBA1A:Arg2Cys	PROT:Q71U36	TUBA1A	R	2	C	R2C	Pathogenic	1	1	76	4
MUT:TUBA1A:Arg2His	PROT:Q71U36	TUBA1A	R	2	H	R2H	Pathogenic/Likely pathogenic	1	5	76	4
MUT:TUBA1A:Arg2Ser	PROT:Q71U36	TUBA1A	R	2	S	R2S	Pathogenic	1	1	76	4
MUT:TUBA1A:Arg320Cys	PROT:Q71U36	TUBA1A	R	320	C	R320C	Pathogenic/Likely pathogenic	1	1	76	6
MUT:TUBA1A:Arg320His	PROT:Q71U36	TUBA1A	R	320	H	R320H	Pathogenic/Likely pathogenic	1	3	76	6
MUT:TUBA1A:Arg390Cys	PROT:Q71U36	TUBA1A	R	390	C	R390C	Pathogenic/Likely pathogenic	1	3	76	4
MUT:TUBA1A:Arg390Gly	PROT:Q71U36	TUBA1A	R	390	G	R390G	Pathogenic/Likely pathogenic	1	1	76	4
MUT:TUBA1A:Arg390His	PROT:Q71U36	TUBA1A	R	390	H	R390H	Pathogenic	1	2	76	4
MUT:TUBA1A:Arg390Pro	PROT:Q71U36	TUBA1A	R	390	P	R390P	Pathogenic/Likely pathogenic	1	2	76	4
MUT:TUBA1A:Arg402Cys	PROT:Q71U36	TUBA1A	R	402	C	R402C	Pathogenic/Likely pathogenic	1	4	76	1
MUT:TUBA1A:Arg402His	PROT:Q71U36	TUBA1A	R	402	H	R402H	Pathogenic	1	4	76	1
MUT:TUBA1A:Arg402Leu	PROT:Q71U36	TUBA1A	R	402	L	R402L	Pathogenic	1	2	76	1
MUT:TUBA1A:Arg402Ser	PROT:Q71U36	TUBA1A	R	402	S	R402S	Likely pathogenic	1	2	76	1
MUT:TUBA1A:Arg422Cys	PROT:Q71U36	TUBA1A	R	422	C	R422C	Pathogenic/Likely pathogenic	1	2	76	3
MUT:TUBA1A:Arg422His	PROT:Q71U36	TUBA1A	R	422	H	R422H	Pathogenic	1	3	76	3
MUT:TUBA1A:Arg422Ser	PROT:Q71U36	TUBA1A	R	422	S	R422S	Pathogenic	1	1	76	3
MUT:TUBA1A:Arg64Gln	PROT:Q71U36	TUBA1A	R	64	Q	R64Q	Pathogenic/Likely pathogenic	1	1	76	4
MUT:TUBA1A:Arg64Trp	PROT:Q71U36	TUBA1A	R	64	W	R64W	Pathogenic/Likely pathogenic	1	2	76	4
MUT:TUBA1A:Arg79Cys	PROT:Q71U36	TUBA1A	R	79	C	R79C	Pathogenic/Likely pathogenic	1	1	76	1
MUT:TUBA1A:Arg79His	PROT:Q71U36	TUBA1A	R	79	H	R79H	Pathogenic/Likely pathogenic	1	1	76	1
MUT:TUBA1A:Asn101Lys	PROT:Q71U36	TUBA1A	N	101	K	N101K	Pathogenic	1	1	76	2
MUT:TUBA1A:Asn101Ser	PROT:Q71U36	TUBA1A	N	101	S	N101S	Pathogenic/Likely pathogenic	1	2	76	2
MUT:TUBA1A:Asn18Tyr	PROT:Q71U36	TUBA1A	N	18	Y	N18Y	Likely pathogenic	1	1	76	6
MUT:TUBA1A:Asn249Ser	PROT:Q71U36	TUBA1A	N	249	S	N249S	Likely pathogenic	1	1	76	4
MUT:TUBA1A:Asn293Ser	PROT:Q71U36	TUBA1A	N	293	S	N293S	Pathogenic/Likely pathogenic	1	2	76	6
MUT:TUBA1A:Asn329Ser	PROT:Q71U36	TUBA1A	N	329	S	N329S	Pathogenic	1	2	76	3
MUT:TUBA1A:Asp127Asn	PROT:Q71U36	TUBA1A	D	127	N	D127N	Pathogenic/Likely pathogenic	1	1	76	3
MUT:TUBA1A:Asp127Glu	PROT:Q71U36	TUBA1A	D	127	E	D127E	Pathogenic	1	1	76	3
MUT:TUBA1A:Asp199Gly	PROT:Q71U36	TUBA1A	D	199	G	D199G	Likely pathogenic	1	1	76	6
MUT:TUBA1A:Asp205Glu	PROT:Q71U36	TUBA1A	D	205	E	D205E	Likely pathogenic	1	1	76	5
MUT:TUBA1A:Asp218Tyr	PROT:Q71U36	TUBA1A	D	218	Y	D218Y	Pathogenic	1	1	76	5
MUT:TUBA1A:Asp306Tyr	PROT:Q71U36	TUBA1A	D	306	Y	D306Y	Likely pathogenic	1	1	76	2
MUT:TUBA1A:Asp396Tyr	PROT:Q71U36	TUBA1A	D	396	Y	D396Y	Pathogenic	1	1	76	2
MUT:TUBA1A:Asp46Val	PROT:Q71U36	TUBA1A	D	46	V	D46V	Likely pathogenic	1	1	76	2
MUT:TUBA1A:Asp47His	PROT:Q71U36	TUBA1A	D	47	H	D47H	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Cys200Arg	PROT:Q71U36	TUBA1A	C	200	R	C200R	Likely pathogenic	1	1	76	7
MUT:TUBA1A:Cys200Tyr	PROT:Q71U36	TUBA1A	C	200	Y	C200Y	Pathogenic	1	1	76	7
MUT:TUBA1A:Cys25Phe	PROT:Q71U36	TUBA1A	C	25	F	C25F	Pathogenic	1	1	76	1
MUT:TUBA1A:Cys25Tyr	PROT:Q71U36	TUBA1A	C	25	Y	C25Y	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Gln233Arg	PROT:Q71U36	TUBA1A	Q	233	R	Q233R	Likely pathogenic	1	2	76	8
MUT:TUBA1A:Gln301Arg	PROT:Q71U36	TUBA1A	Q	301	R	Q301R	Pathogenic/Likely pathogenic	1	1	76	3
MUT:TUBA1A:Gln342Pro	PROT:Q71U36	TUBA1A	Q	342	P	Q342P	Likely pathogenic	1	1	76	2
MUT:TUBA1A:Glu113Lys	PROT:Q71U36	TUBA1A	E	113	K	E113K	Pathogenic	1	1	76	1
MUT:TUBA1A:Glu207Gly	PROT:Q71U36	TUBA1A	E	207	G	E207G	Likely pathogenic	1	1	76	3
MUT:TUBA1A:Glu27Gln	PROT:Q71U36	TUBA1A	E	27	Q	E27Q	Pathogenic	1	1	76	3
MUT:TUBA1A:Glu386Lys	PROT:Q71U36	TUBA1A	E	386	K	E386K	Likely pathogenic	1	2	76	7
MUT:TUBA1A:Glu423Gln	PROT:Q71U36	TUBA1A	E	423	Q	E423Q	Likely pathogenic	1	1	76	4
MUT:TUBA1A:Glu423Gly	PROT:Q71U36	TUBA1A	E	423	G	E423G	Likely pathogenic	1	1	76	4
MUT:TUBA1A:Glu429Gln	PROT:Q71U36	TUBA1A	E	429	Q	E429Q	Pathogenic	1	1	76	1
MUT:TUBA1A:Glu55Lys	PROT:Q71U36	TUBA1A	E	55	K	E55K	Pathogenic	1	1	76	1
MUT:TUBA1A:Glu90Gln	PROT:Q71U36	TUBA1A	E	90	Q	E90Q	Pathogenic	1	1	76	4
MUT:TUBA1A:Glu90Gly	PROT:Q71U36	TUBA1A	E	90	G	E90G	Likely pathogenic	1	2	76	4
MUT:TUBA1A:Glu97Gln	PROT:Q71U36	TUBA1A	E	97	Q	E97Q	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Gly142Cys	PROT:Q71U36	TUBA1A	G	142	C	G142C	Likely pathogenic	1	1	76	16
MUT:TUBA1A:Gly142Ser	PROT:Q71U36	TUBA1A	G	142	S	G142S	Pathogenic/Likely pathogenic	1	1	76	16
MUT:TUBA1A:Gly144Val	PROT:Q71U36	TUBA1A	G	144	V	G144V	Pathogenic	1	1	76	14
MUT:TUBA1A:Gly148Arg	PROT:Q71U36	TUBA1A	G	148	R	G148R	Likely pathogenic	1	1	76	10
MUT:TUBA1A:Gly17Asp	PROT:Q71U36	TUBA1A	G	17	D	G17D	Pathogenic	1	1	76	7
MUT:TUBA1A:Gly321Asp	PROT:Q71U36	TUBA1A	G	321	D	G321D	Likely pathogenic	1	1	76	5
MUT:TUBA1A:Gly350Val	PROT:Q71U36	TUBA1A	G	350	V	G350V	Pathogenic/Likely pathogenic	1	2	76	1
MUT:TUBA1A:Gly366Arg	PROT:Q71U36	TUBA1A	G	366	R	G366R	Pathogenic/Likely pathogenic	1	1	76	4
MUT:TUBA1A:Gly416Ser	PROT:Q71U36	TUBA1A	G	416	S	G416S	Pathogenic/Likely pathogenic	1	2	76	3
MUT:TUBA1A:Gly436Arg	PROT:Q71U36	TUBA1A	G	436	R	G436R	Pathogenic	1	1	76	3
MUT:TUBA1A:Gly436Asp	PROT:Q71U36	TUBA1A	G	436	D	G436D	Pathogenic/Likely pathogenic	1	2	76	3
MUT:TUBA1A:Gly59Ser	PROT:Q71U36	TUBA1A	G	59	S	G59S	Pathogenic	1	1	76	1
MUT:TUBA1A:Gly95Cys	PROT:Q71U36	TUBA1A	G	95	C	G95C	Pathogenic	1	1	76	1
MUT:TUBA1A:His107Arg	PROT:Q71U36	TUBA1A	H	107	R	H107R	Pathogenic	1	1	76	1
MUT:TUBA1A:His107Gln	PROT:Q71U36	TUBA1A	H	107	Q	H107Q	Likely pathogenic	1	1	76	1
MUT:TUBA1A:His266Arg	PROT:Q71U36	TUBA1A	H	266	R	H266R	Likely pathogenic	1	1	76	4
MUT:TUBA1A:His283Arg	PROT:Q71U36	TUBA1A	H	283	R	H283R	Likely pathogenic	1	1	76	1
MUT:TUBA1A:His393Tyr	PROT:Q71U36	TUBA1A	H	393	Y	H393Y	Pathogenic	1	1	76	1
MUT:TUBA1A:His61Pro	PROT:Q71U36	TUBA1A	H	61	P	H61P	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Ile115Thr	PROT:Q71U36	TUBA1A	I	115	T	I115T	Pathogenic/Likely pathogenic	1	1	76	3
MUT:TUBA1A:Ile16Thr	PROT:Q71U36	TUBA1A	I	16	T	I16T	Likely pathogenic	1	1	76	8
MUT:TUBA1A:Ile188Leu	PROT:Q71U36	TUBA1A	I	188	L	I188L	Pathogenic	1	2	76	1
MUT:TUBA1A:Ile209Thr	PROT:Q71U36	TUBA1A	I	209	T	I209T	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Ile219Met	PROT:Q71U36	TUBA1A	I	219	M	I219M	Pathogenic/Likely pathogenic	1	1	76	4
MUT:TUBA1A:Ile219Val	PROT:Q71U36	TUBA1A	I	219	V	I219V	Likely pathogenic	1	1	76	4
MUT:TUBA1A:Ile231Leu	PROT:Q71U36	TUBA1A	I	231	L	I231L	Likely pathogenic	1	1	76	6
MUT:TUBA1A:Ile234Ser	PROT:Q71U36	TUBA1A	I	234	S	I234S	Pathogenic	1	1	76	9
MUT:TUBA1A:Ile238Val	PROT:Q71U36	TUBA1A	I	238	V	I238V	Likely pathogenic	1	1	76	13
MUT:TUBA1A:Ile5Leu	PROT:Q71U36	TUBA1A	I	5	L	I5L	Likely pathogenic	1	2	76	1
MUT:TUBA1A:Leu152Gln	PROT:Q71U36	TUBA1A	L	152	Q	L152Q	Likely pathogenic	1	2	76	6
MUT:TUBA1A:Leu269Pro	PROT:Q71U36	TUBA1A	L	269	P	L269P	Likely pathogenic	1	1	76	3
MUT:TUBA1A:Leu286Phe	PROT:Q71U36	TUBA1A	L	286	F	L286F	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Leu397Pro	PROT:Q71U36	TUBA1A	L	397	P	L397P	Pathogenic	1	2	76	2
MUT:TUBA1A:Leu70Ser	PROT:Q71U36	TUBA1A	L	70	S	L70S	Pathogenic	1	1	76	3
MUT:TUBA1A:Leu86Gln	PROT:Q71U36	TUBA1A	L	86	Q	L86Q	Likely pathogenic	1	1	76	6
MUT:TUBA1A:Leu92Val	PROT:Q71U36	TUBA1A	L	92	V	L92V	Pathogenic	1	1	76	2
MUT:TUBA1A:Lys326Asn	PROT:Q71U36	TUBA1A	K	326	N	K326N	Pathogenic	1	1	76	0
MUT:TUBA1A:Lys336Arg	PROT:Q71U36	TUBA1A	K	336	R	K336R	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Lys338Met	PROT:Q71U36	TUBA1A	K	338	M	K338M	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Lys352Met	PROT:Q71U36	TUBA1A	K	352	M	K352M	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Lys60Asn	PROT:Q71U36	TUBA1A	K	60	N	K60N	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Met203Ile	PROT:Q71U36	TUBA1A	M	203	I	M203I	Likely pathogenic	1	1	76	7
MUT:TUBA1A:Met377Val	PROT:Q71U36	TUBA1A	M	377	V	M377V	Likely pathogenic	1	2	76	2
MUT:TUBA1A:Met425Lys	PROT:Q71U36	TUBA1A	M	425	K	M425K	Pathogenic/Likely pathogenic	1	2	76	5
MUT:TUBA1A:Phe169Ser	PROT:Q71U36	TUBA1A	F	169	S	F169S	Likely pathogenic	1	1	76	3
MUT:TUBA1A:Phe296Ser	PROT:Q71U36	TUBA1A	F	296	S	F296S	Likely pathogenic	1	1	76	8
MUT:TUBA1A:Pro184Leu	PROT:Q71U36	TUBA1A	P	184	L	P184L	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Pro261Ala	PROT:Q71U36	TUBA1A	P	261	A	P261A	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Pro263Leu	PROT:Q71U36	TUBA1A	P	263	L	P263L	Pathogenic	1	1	76	1
MUT:TUBA1A:Pro263Thr	PROT:Q71U36	TUBA1A	P	263	T	P263T	Pathogenic	1	2	76	1
MUT:TUBA1A:Pro307Leu	PROT:Q71U36	TUBA1A	P	307	L	P307L	Pathogenic/Likely pathogenic	1	2	76	3
MUT:TUBA1A:Pro307Ser	PROT:Q71U36	TUBA1A	P	307	S	P307S	Likely pathogenic	1	1	76	3
MUT:TUBA1A:Pro359Leu	PROT:Q71U36	TUBA1A	P	359	L	P359L	Pathogenic/Likely pathogenic	1	1	76	2
MUT:TUBA1A:Pro364Arg	PROT:Q71U36	TUBA1A	P	364	R	P364R	Likely pathogenic	1	1	76	3
MUT:TUBA1A:Pro72Arg	PROT:Q71U36	TUBA1A	P	72	R	P72R	Pathogenic	1	1	76	1
MUT:TUBA1A:Pro72Ser	PROT:Q71U36	TUBA1A	P	72	S	P72S	Pathogenic	1	1	76	1
MUT:TUBA1A:Ser158Leu	PROT:Q71U36	TUBA1A	S	158	L	S158L	Pathogenic	1	1	76	0
MUT:TUBA1A:Ser419Leu	PROT:Q71U36	TUBA1A	S	419	L	S419L	Pathogenic/Likely pathogenic	1	2	76	0
MUT:TUBA1A:Ser54Arg	PROT:Q71U36	TUBA1A	S	54	R	S54R	Likely pathogenic	1	2	76	0
MUT:TUBA1A:Ser54Asn	PROT:Q71U36	TUBA1A	S	54	N	S54N	Pathogenic	1	1	76	0
MUT:TUBA1A:Ser6Cys	PROT:Q71U36	TUBA1A	S	6	C	S6C	Pathogenic/Likely pathogenic	1	1	76	0
MUT:TUBA1A:Thr179Ala	PROT:Q71U36	TUBA1A	T	179	A	T179A	Likely pathogenic	1	1	76	6
MUT:TUBA1A:Thr239Pro	PROT:Q71U36	TUBA1A	T	239	P	T239P	Likely pathogenic	1	1	76	14
MUT:TUBA1A:Thr292Ile	PROT:Q71U36	TUBA1A	T	292	I	T292I	Likely pathogenic	1	1	76	5
MUT:TUBA1A:Thr382Ala	PROT:Q71U36	TUBA1A	T	382	A	T382A	Likely pathogenic	1	2	76	3
MUT:TUBA1A:Thr51Ile	PROT:Q71U36	TUBA1A	T	51	I	T51I	Likely pathogenic	1	2	76	0
MUT:TUBA1A:Thr56Met	PROT:Q71U36	TUBA1A	T	56	M	T56M	Pathogenic	1	2	76	0
MUT:TUBA1A:Thr73Ala	PROT:Q71U36	TUBA1A	T	73	A	T73A	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Tyr108His	PROT:Q71U36	TUBA1A	Y	108	H	Y108H	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Tyr161Asp	PROT:Q71U36	TUBA1A	Y	161	D	Y161D	Pathogenic/Likely pathogenic	1	2	76	0
MUT:TUBA1A:Tyr161His	PROT:Q71U36	TUBA1A	Y	161	H	Y161H	Pathogenic	1	1	76	0
MUT:TUBA1A:Tyr210Cys	PROT:Q71U36	TUBA1A	Y	210	C	Y210C	Pathogenic	1	1	76	0
MUT:TUBA1A:Tyr272Cys	PROT:Q71U36	TUBA1A	Y	272	C	Y272C	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Tyr272His	PROT:Q71U36	TUBA1A	Y	272	H	Y272H	Likely pathogenic	1	1	76	0
MUT:TUBA1A:Tyr319Asn	PROT:Q71U36	TUBA1A	Y	319	N	Y319N	Pathogenic	1	1	76	7
MUT:TUBA1A:Val118Leu	PROT:Q71U36	TUBA1A	V	118	L	V118L	Pathogenic	1	2	76	6
MUT:TUBA1A:Val118Met	PROT:Q71U36	TUBA1A	V	118	M	V118M	Pathogenic/Likely pathogenic	1	2	76	6
MUT:TUBA1A:Val137Asp	PROT:Q71U36	TUBA1A	V	137	D	V137D	Likely pathogenic	1	1	76	13
MUT:TUBA1A:Val159Ala	PROT:Q71U36	TUBA1A	V	159	A	V159A	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Val182Ala	PROT:Q71U36	TUBA1A	V	182	A	V182A	Pathogenic	1	1	76	3
MUT:TUBA1A:Val303Gly	PROT:Q71U36	TUBA1A	V	303	G	V303G	Pathogenic	1	1	76	1
MUT:TUBA1A:Val323Met	PROT:Q71U36	TUBA1A	V	323	M	V323M	Pathogenic/Likely pathogenic	1	1	76	3
MUT:TUBA1A:Val324Leu	PROT:Q71U36	TUBA1A	V	324	L	V324L	Likely pathogenic	1	2	76	2
MUT:TUBA1A:Val344Ala	PROT:Q71U36	TUBA1A	V	344	A	V344A	Likely pathogenic	1	1	76	4
MUT:TUBA1A:Val353Ile	PROT:Q71U36	TUBA1A	V	353	I	V353I	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Val362Leu	PROT:Q71U36	TUBA1A	V	362	L	V362L	Likely pathogenic	1	1	76	1
MUT:TUBA1A:Val371Glu	PROT:Q71U36	TUBA1A	V	371	E	V371E	Pathogenic	1	1	76	1
MUT:TUBA1A:Val405Phe	PROT:Q71U36	TUBA1A	V	405	F	V405F	Likely pathogenic	1	1	76	4
MUT:TUBA1A:Val409Ala	PROT:Q71U36	TUBA1A	V	409	A	V409A	Pathogenic/Likely pathogenic	1	2	76	8
MUT:TUBA1A:Val409Ile	PROT:Q71U36	TUBA1A	V	409	I	V409I	Pathogenic/Likely pathogenic	1	2	76	8
MUT:TUBA1A:Val409Phe	PROT:Q71U36	TUBA1A	V	409	F	V409F	Pathogenic	1	1	76	8
MUT:TUBA3E:Ala126Val	PROT:Q6PEY2	TUBA3E	A	126	V	A126V	Benign	0	2	28	17
MUT:TUBA3E:Arg215Cys	PROT:Q6PEY2	TUBA3E	R	215	C	R215C	Likely pathogenic	1	1	28	5
MUT:TUBB2A:Ala185Thr	PROT:Q13885	TUBB2A	A	185	T	A185T	Benign	0	1	19	23
MUT:TUBB2A:Ala393Val	PROT:Q13885	TUBB2A	A	393	V	A393V	Likely pathogenic	1	1	19	6
MUT:TUBB2A:Arg262His	PROT:Q13885	TUBB2A	R	262	H	R262H	Pathogenic/Likely pathogenic	1	1	19	10
MUT:TUBB2A:Asn247Lys	PROT:Q13885	TUBB2A	N	247	K	N247K	Pathogenic	1	2	19	5
MUT:TUBB2A:Glu194Lys	PROT:Q13885	TUBB2A	E	194	K	E194K	Pathogenic/Likely pathogenic	1	1	19	14
MUT:TUBB2A:Gly132Ser	PROT:Q13885	TUBB2A	G	132	S	G132S	Pathogenic/Likely pathogenic	1	1	19	22
MUT:TUBB2A:Gly402Arg	PROT:Q13885	TUBB2A	G	402	R	G402R	Likely pathogenic	1	1	19	3
MUT:TUBB2A:Gly96Arg	PROT:Q13885	TUBB2A	G	96	R	G96R	Pathogenic	1	1	19	1
MUT:TUBB2A:Gly98Arg	PROT:Q13885	TUBB2A	G	98	R	G98R	Pathogenic/Likely pathogenic	1	3	19	3
MUT:TUBB2A:Gly98Val	PROT:Q13885	TUBB2A	G	98	V	G98V	Likely pathogenic	1	1	19	3
MUT:TUBB2A:Ile345Phe	PROT:Q13885	TUBB2A	I	345	F	I345F	Pathogenic/Likely pathogenic	1	2	19	41
MUT:TUBB2A:Leu207Pro	PROT:Q13885	TUBB2A	L	207	P	L207P	Likely pathogenic	1	1	19	1
MUT:TUBB2A:Met323Leu	PROT:Q13885	TUBB2A	M	323	L	M323L	Likely pathogenic	1	1	19	63
MUT:TUBB2A:Pro357Leu	PROT:Q13885	TUBB2A	P	357	L	P357L	Pathogenic	1	1	19	29
MUT:TUBB2A:Pro358Leu	PROT:Q13885	TUBB2A	P	358	L	P358L	Likely pathogenic	1	1	19	28
MUT:TUBB2A:Pro358Thr	PROT:Q13885	TUBB2A	P	358	T	P358T	Likely pathogenic	1	1	19	28
MUT:TUBB2A:Ser230Leu	PROT:Q13885	TUBB2A	S	230	L	S230L	Pathogenic/Likely pathogenic	1	1	19	4
MUT:TUBB2A:Tyr50His	PROT:Q13885	TUBB2A	Y	50	H	Y50H	Likely pathogenic	1	1	19	8
MUT:TUBG1:Arg341Trp	PROT:P23258	TUBG1	R	341	W	R341W	Pathogenic/Likely pathogenic	1	1	14	3
MUT:TUBG1:Arg440Trp	PROT:P23258	TUBG1	R	440	W	R440W	Benign/Likely benign	0	1	14	25
MUT:TUBG1:Asp68Tyr	PROT:P23258	TUBG1	D	68	Y	D68Y	Likely pathogenic	1	1	14	20
MUT:TUBG1:Gly14Asp	PROT:P23258	TUBG1	G	14	D	G14D	Likely pathogenic	1	1	14	34
MUT:TUBG1:Ile141Leu	PROT:P23258	TUBG1	I	141	L	I141L	Likely pathogenic	1	1	14	10
MUT:TUBG1:Ile257Phe	PROT:P23258	TUBG1	I	257	F	I257F	Likely pathogenic	1	1	14	27
MUT:TUBG1:Leu387Pro	PROT:P23258	TUBG1	L	387	P	L387P	Pathogenic	1	1	14	2
MUT:TUBG1:Thr242Ile	PROT:P23258	TUBG1	T	242	I	T242I	Likely pathogenic	1	1	14	42
MUT:TUBG1:Thr274Asn	PROT:P23258	TUBG1	T	274	N	T274N	Likely pathogenic	1	1	14	10
MUT:TUBG1:Thr331Pro	PROT:P23258	TUBG1	T	331	P	T331P	Pathogenic	1	1	14	4
MUT:TUBG1:Tyr92Cys	PROT:P23258	TUBG1	Y	92	C	Y92C	Likely pathogenic	1	1	14	21
MUT:TUBGCP4:Asn123Ser	PROT:Q9UGJ1	TUBGCP4	N	123	S	N123S	Benign/Likely benign	0	2	2	132
MUT:TUBGCP4:Ser594Leu	PROT:Q9UGJ1	TUBGCP4	S	594	L	S594L	Likely benign	0	1	2	153
MUT:TUBGCP4:Val323Leu	PROT:Q9UGJ1	TUBGCP4	V	323	L	V323L	Benign/Likely benign	0	1	2	68
MUT:TUT1:Ala433Thr	PROT:Q9H6E5	TUT1	A	433	T	A433T	Likely pathogenic	1	1	10	66
MUT:TWIST1:Ala152Pro	PROT:Q15672	TWIST1	A	152	P	A152P	Likely pathogenic	1	1	16	7
MUT:TWIST1:Ala186Thr	PROT:Q15672	TWIST1	A	186	T	A186T	Pathogenic	1	1	16	41
MUT:TWIST1:Arg116Trp	PROT:Q15672	TWIST1	R	116	W	R116W	Pathogenic	1	1	16	5
MUT:TWIST1:Arg118Gly	PROT:Q15672	TWIST1	R	118	G	R118G	Likely pathogenic	1	1	16	3
MUT:TWIST1:Arg120Gly	PROT:Q15672	TWIST1	R	120	G	R120G	Pathogenic/Likely pathogenic	1	1	16	1
MUT:TWIST1:Gln119Pro	PROT:Q15672	TWIST1	Q	119	P	Q119P	Pathogenic	1	1	16	2
MUT:TWIST1:Gln122Arg	PROT:Q15672	TWIST1	Q	122	R	Q122R	Likely pathogenic	1	1	16	1
MUT:TWIST1:Glu117Asp	PROT:Q15672	TWIST1	E	117	D	E117D	Pathogenic	1	1	16	4
MUT:TWIST1:Glu117Gly	PROT:Q15672	TWIST1	E	117	G	E117G	Pathogenic	1	1	16	4
MUT:TWIST1:Glu117Val	PROT:Q15672	TWIST1	E	117	V	E117V	Pathogenic	1	1	16	4
MUT:TWIST1:Gly67Ala	PROT:Q15672	TWIST1	G	67	A	G67A	Likely benign	0	1	16	1
MUT:TWIST1:Ile156Val	PROT:Q15672	TWIST1	I	156	V	I156V	Pathogenic/Likely pathogenic	1	2	16	11
MUT:TWIST1:Leu131Pro	PROT:Q15672	TWIST1	L	131	P	L131P	Pathogenic	1	1	16	2
MUT:TWIST1:Leu159His	PROT:Q15672	TWIST1	L	159	H	L159H	Likely pathogenic	1	2	16	14
MUT:TWIST1:Leu159Val	PROT:Q15672	TWIST1	L	159	V	L159V	Likely pathogenic	1	1	16	14
MUT:TWIST1:Lys145Glu	PROT:Q15672	TWIST1	K	145	E	K145E	Pathogenic/Likely pathogenic	1	1	16	0
MUT:TWIST1:Lys145Thr	PROT:Q15672	TWIST1	K	145	T	K145T	Likely pathogenic	1	1	16	0
MUT:TWIST1:Pro139Leu	PROT:Q15672	TWIST1	P	139	L	P139L	Likely pathogenic	1	1	16	3
MUT:TWIST1:Pro139Ser	PROT:Q15672	TWIST1	P	139	S	P139S	Likely pathogenic	1	1	16	3
MUT:TWIST1:Ser144Asn	PROT:Q15672	TWIST1	S	144	N	S144N	Likely pathogenic	1	1	16	0
MUT:TWIST1:Thr121Ile	PROT:Q15672	TWIST1	T	121	I	T121I	Pathogenic	1	1	16	0
MUT:TWIST2:Glu75Ala	PROT:Q8WVJ9	TWIST2	E	75	A	E75A	Pathogenic	1	1	2	15
MUT:TWIST2:Glu75Gln	PROT:Q8WVJ9	TWIST2	E	75	Q	E75Q	Pathogenic	1	1	2	15
MUT:TWIST2:Glu75Lys	PROT:Q8WVJ9	TWIST2	E	75	K	E75K	Pathogenic	1	1	2	15
MUT:TXN2:Ile52Met	PROT:Q99757	TXN2	I	52	M	I52M	Likely benign	0	1	1	50
MUT:TYK2:Ala53Thr	PROT:P29597	TYK2	A	53	T	A53T	Benign	0	1	23	239
MUT:TYK2:Ala928Val	PROT:P29597	TYK2	A	928	V	A928V	Benign/Likely benign	0	1	23	2
MUT:TYK2:Arg197His	PROT:P29597	TYK2	R	197	H	R197H	Benign	0	1	23	95
MUT:TYK2:Arg568Trp	PROT:P29597	TYK2	R	568	W	R568W	Likely benign	0	1	23	45
MUT:TYK2:Arg703Trp	PROT:P29597	TYK2	R	703	W	R703W	Benign	0	1	23	25
MUT:TYK2:Glu1163Gly	PROT:P29597	TYK2	E	1163	G	E1163G	Benign	0	1	23	12
MUT:TYK2:Gly363Ser	PROT:P29597	TYK2	G	363	S	G363S	Benign	0	1	23	43
MUT:TYK2:Gly39Ser	PROT:P29597	TYK2	G	39	S	G39S	Likely benign	0	1	23	253
MUT:TYK2:Gly634Glu	PROT:P29597	TYK2	G	634	E	G634E	Likely benign	0	2	23	21
MUT:TYK2:Gly761Val	PROT:P29597	TYK2	G	761	V	G761V	Likely benign	0	1	23	5
MUT:TYK2:Gly799Arg	PROT:P29597	TYK2	G	799	R	G799R	Pathogenic	1	1	23	24
MUT:TYK2:His993Tyr	PROT:P29597	TYK2	H	993	Y	H993Y	Likely benign	0	1	23	48
MUT:TYK2:Ile105Met	PROT:P29597	TYK2	I	105	M	I105M	Likely benign	0	1	23	187
MUT:TYK2:Ile684Ser	PROT:P29597	TYK2	I	684	S	I684S	Benign	0	1	23	44
MUT:TYK2:Leu1014Pro	PROT:P29597	TYK2	L	1014	P	L1014P	Pathogenic	1	1	23	32
MUT:TYK2:Leu757Val	PROT:P29597	TYK2	L	757	V	L757V	Pathogenic	1	1	23	1
MUT:TYK2:Pro1104Ala	PROT:P29597	TYK2	P	1104	A	P1104A	Benign/Likely benign	0	1	23	30
MUT:TYK2:Pro820His	PROT:P29597	TYK2	P	820	H	P820H	Benign/Likely benign	0	1	23	3
MUT:TYK2:Pro871Ser	PROT:P29597	TYK2	P	871	S	P871S	Likely benign	0	1	23	28
MUT:TYK2:Val15Ala	PROT:P29597	TYK2	V	15	A	V15A	Benign/Likely benign	0	1	23	277
MUT:TYK2:Val237Ile	PROT:P29597	TYK2	V	237	I	V237I	Likely benign	0	1	23	55
MUT:TYK2:Val362Phe	PROT:P29597	TYK2	V	362	F	V362F	Benign	0	1	23	44
MUT:TYK2:Val387Leu	PROT:P29597	TYK2	V	387	L	V387L	Likely benign	0	1	23	19
MUT:TYMS:Pro15Ser	PROT:P04818	TYMS	P	15	S	P15S	Likely benign	0	1	10	84
MUT:TYROBP:Arg23His	PROT:O43914	TYROBP	R	23	H	R23H	Benign/Likely benign	0	1	1	79
MUT:TYROBP:Arg70Gln	PROT:O43914	TYROBP	R	70	Q	R70Q	Likely benign	0	1	1	32
MUT:TYROBP:Met1Thr	PROT:O43914	TYROBP	M	1	T	M1T	Pathogenic	1	1	1	101
MUT:TYROBP:Ser39Asn	PROT:O43914	TYROBP	S	39	N	S39N	Likely pathogenic	1	1	1	63
MUT:TYROBP:Val55Leu	PROT:O43914	TYROBP	V	55	L	V55L	Benign	0	2	1	47
MUT:UACA:Asn1336Ser	PROT:Q9BZF9	UACA	N	1336	S	N1336S	Likely benign	0	1	14	130
MUT:UACA:Asn325Ser	PROT:Q9BZF9	UACA	N	325	S	N325S	Benign	0	10	14	18
MUT:UACA:Asn765His	PROT:Q9BZF9	UACA	N	765	H	N765H	Benign	0	1	14	35
MUT:UACA:Asp1074Tyr	PROT:Q9BZF9	UACA	D	1074	Y	D1074Y	Benign	0	1	14	5
MUT:UACA:Gln458His	PROT:Q9BZF9	UACA	Q	458	H	Q458H	Likely benign	0	1	14	17
MUT:UACA:Ile814Thr	PROT:Q9BZF9	UACA	I	814	T	I814T	Benign	0	1	14	84
MUT:UACA:Ile820Val	PROT:Q9BZF9	UACA	I	820	V	I820V	Benign	0	1	14	90
MUT:UACA:Leu780Met	PROT:Q9BZF9	UACA	L	780	M	L780M	Benign	0	1	14	50
MUT:UACA:Met403Val	PROT:Q9BZF9	UACA	M	403	V	M403V	Benign	0	10	14	34
MUT:UACA:Ser934Leu	PROT:Q9BZF9	UACA	S	934	L	S934L	Benign	0	1	14	12
MUT:UACA:Val898Ile	PROT:Q9BZF9	UACA	V	898	I	V898I	Likely benign	0	1	14	24
MUT:UACA:Val989Ile	PROT:Q9BZF9	UACA	V	989	I	V989I	Likely benign	0	1	14	4
MUT:UAP1:Lys391Gln	PROT:Q16222	UAP1	K	391	Q	K391Q	Benign	0	10	13	1
MUT:UBA1:Ala767Thr	PROT:P22314	UBA1	A	767	T	A767T	Likely benign	0	1	59	22
MUT:UBA1:Ala817Thr	PROT:P22314	UBA1	A	817	T	A817T	Benign/Likely benign	0	2	59	1
MUT:UBA1:Arg368Gln	PROT:P22314	UBA1	R	368	Q	R368Q	Benign	0	1	59	17
MUT:UBA1:Arg447Cys	PROT:P22314	UBA1	R	447	C	R447C	Benign/Likely benign	0	1	59	4
MUT:UBA1:Arg447His	PROT:P22314	UBA1	R	447	H	R447H	Benign	0	1	59	4
MUT:UBA1:Arg537His	PROT:P22314	UBA1	R	537	H	R537H	Benign/Likely benign	0	1	59	8
MUT:UBA1:Arg69Gln	PROT:P22314	UBA1	R	69	Q	R69Q	Benign/Likely benign	0	1	59	1
MUT:UBA1:Arg784Gln	PROT:P22314	UBA1	R	784	Q	R784Q	Benign	0	1	59	5
MUT:UBA1:Arg917Gln	PROT:P22314	UBA1	R	917	Q	R917Q	Benign	0	1	59	44
MUT:UBA1:Arg944His	PROT:P22314	UBA1	R	944	H	R944H	Likely benign	0	1	59	71
MUT:UBA1:Asn366Thr	PROT:P22314	UBA1	N	366	T	N366T	Benign/Likely benign	0	1	59	19
MUT:UBA1:Asn770His	PROT:P22314	UBA1	N	770	H	N770H	Benign	0	2	59	19
MUT:UBA1:Asn770Ser	PROT:P22314	UBA1	N	770	S	N770S	Likely benign	0	1	59	19
MUT:UBA1:Asn818Ser	PROT:P22314	UBA1	N	818	S	N818S	Benign	0	1	59	2
MUT:UBA1:Asp977Asn	PROT:P22314	UBA1	D	977	N	D977N	Benign/Likely benign	0	1	59	67
MUT:UBA1:Gln334His	PROT:P22314	UBA1	Q	334	H	Q334H	Likely benign	0	1	59	12
MUT:UBA1:Gln334Pro	PROT:P22314	UBA1	Q	334	P	Q334P	Likely benign	0	1	59	12
MUT:UBA1:Gln914His	PROT:P22314	UBA1	Q	914	H	Q914H	Benign	0	1	59	41
MUT:UBA1:Glu32Lys	PROT:P22314	UBA1	E	32	K	E32K	Benign	0	1	59	1
MUT:UBA1:Glu938Gly	PROT:P22314	UBA1	E	938	G	E938G	Likely benign	0	1	59	65
MUT:UBA1:Gly467Asp	PROT:P22314	UBA1	G	467	D	G467D	Likely benign	0	1	59	2
MUT:UBA1:Gly495Arg	PROT:P22314	UBA1	G	495	R	G495R	Benign/Likely benign	0	1	59	25
MUT:UBA1:His712Tyr	PROT:P22314	UBA1	H	712	Y	H712Y	Benign	0	1	59	30
MUT:UBA1:Leu112Phe	PROT:P22314	UBA1	L	112	F	L112F	Likely benign	0	1	59	28
MUT:UBA1:Leu568Val	PROT:P22314	UBA1	L	568	V	L568V	Benign/Likely benign	0	3	59	8
MUT:UBA1:Lys322Arg	PROT:P22314	UBA1	K	322	R	K322R	Benign/Likely benign	0	1	59	0
MUT:UBA1:Phe339Leu	PROT:P22314	UBA1	F	339	L	F339L	Likely benign	0	1	59	17
MUT:UBA1:Phe790Leu	PROT:P22314	UBA1	F	790	L	F790L	Benign	0	1	59	1
MUT:UBA1:Pro168Ser	PROT:P22314	UBA1	P	168	S	P168S	Benign/Likely benign	0	1	59	17
MUT:UBA1:Pro876Ser	PROT:P22314	UBA1	P	876	S	P876S	Benign	0	1	59	3
MUT:UBA1:Ser1023Leu	PROT:P22314	UBA1	S	1023	L	S1023L	Benign	0	1	59	21
MUT:UBA1:Thr148Ala	PROT:P22314	UBA1	T	148	A	T148A	Benign/Likely benign	0	1	59	8
MUT:UBA1:Val130Leu	PROT:P22314	UBA1	V	130	L	V130L	Benign/Likely benign	0	1	59	10
MUT:UBA1:Val144Ile	PROT:P22314	UBA1	V	144	I	V144I	Benign	0	1	59	4
MUT:UBA1:Val152Ile	PROT:P22314	UBA1	V	152	I	V152I	Benign/Likely benign	0	1	59	12
MUT:UBA2:Asp50Gly	PROT:Q9UBT2	UBA2	D	50	G	D50G	Likely pathogenic	1	1	27	27
MUT:UBA2:Glu483Lys	PROT:Q9UBT2	UBA2	E	483	K	E483K	Likely pathogenic	1	1	27	16
MUT:UBA2:Gly24Val	PROT:Q9UBT2	UBA2	G	24	V	G24V	Likely pathogenic	1	1	27	53
MUT:UBA2:Met1Val	PROT:Q9UBT2	UBA2	M	1	V	M1V	Pathogenic/Likely pathogenic	1	1	27	76
MUT:UBA2:Val90Ile	PROT:Q9UBT2	UBA2	V	90	I	V90I	Likely benign	0	1	27	13
MUT:UBA5:Ala130Pro	PROT:Q9GZZ9	UBA5	A	130	P	A130P	Likely pathogenic	1	1	16	23
MUT:UBA5:Arg55His	PROT:Q9GZZ9	UBA5	R	55	H	R55H	Pathogenic	1	1	16	2
MUT:UBA5:Arg94Gly	PROT:Q9GZZ9	UBA5	R	94	G	R94G	Likely pathogenic	1	1	16	13
MUT:UBA5:Asp389Tyr	PROT:Q9GZZ9	UBA5	D	389	Y	D389Y	Pathogenic	1	1	16	1
MUT:UBA5:Asp67Tyr	PROT:Q9GZZ9	UBA5	D	67	Y	D67Y	Likely pathogenic	1	1	16	1
MUT:UBA5:Gly168Glu	PROT:Q9GZZ9	UBA5	G	168	E	G168E	Likely pathogenic	1	1	16	5
MUT:UBA5:Leu254Pro	PROT:Q9GZZ9	UBA5	L	254	P	L254P	Pathogenic	1	1	16	81
MUT:UBA5:Lys310Glu	PROT:Q9GZZ9	UBA5	K	310	E	K310E	Pathogenic	1	1	16	48
MUT:UBA5:Met1Val	PROT:Q9GZZ9	UBA5	M	1	V	M1V	Pathogenic	1	1	16	3
MUT:UBA5:Ser213Leu	PROT:Q9GZZ9	UBA5	S	213	L	S213L	Likely pathogenic	1	1	16	40
MUT:UBA5:Val260Met	PROT:Q9GZZ9	UBA5	V	260	M	V260M	Likely pathogenic	1	1	16	87
MUT:UBA7:Arg414His	PROT:P41226	UBA7	R	414	H	R414H	Likely benign	0	1	4	15
MUT:UBA7:Arg839Pro	PROT:P41226	UBA7	R	839	P	R839P	Benign	0	1	4	315
MUT:UBA7:Val509Met	PROT:P41226	UBA7	V	509	M	V509M	Likely benign	0	1	4	15
MUT:UBAP1:Ala84Glu	PROT:Q9NZ09	UBAP1	A	84	E	A84E	Likely benign	0	1	11	9
MUT:UBAP1:Asn198Ser	PROT:Q9NZ09	UBAP1	N	198	S	N198S	Benign/Likely benign	0	1	11	21
MUT:UBAP1:Asn277Ser	PROT:Q9NZ09	UBAP1	N	277	S	N277S	Likely benign	0	1	11	9
MUT:UBAP1:Asn357Lys	PROT:Q9NZ09	UBAP1	N	357	K	N357K	Benign	0	1	11	68
MUT:UBAP1:Gln422Arg	PROT:Q9NZ09	UBAP1	Q	422	R	Q422R	Likely pathogenic	1	1	11	80
MUT:UBAP1:Glu397Lys	PROT:Q9NZ09	UBAP1	E	397	K	E397K	Benign	0	1	11	105
MUT:UBAP2:Ala775Val	PROT:Q5T6F2	UBAP2	A	775	V	A775V	Likely benign	0	1	19	81
MUT:UBE2A:Arg11Gln	PROT:P49459	UBE2A	R	11	Q	R11Q	Pathogenic	1	1	3	109
MUT:UBE2A:Gly23Arg	PROT:P49459	UBE2A	G	23	R	G23R	Pathogenic	1	1	3	97
MUT:UBE2A:Met10Leu	PROT:P49459	UBE2A	M	10	L	M10L	Likely pathogenic	1	1	3	110
MUT:UBE2A:Met1Arg	PROT:P49459	UBE2A	M	1	R	M1R	Likely pathogenic	1	1	3	119
MUT:UBE2A:Met1Val	PROT:P49459	UBE2A	M	1	V	M1V	Likely pathogenic	1	1	3	119
MUT:UBE3B:Arg346Gln	PROT:Q7Z3V4	UBE3B	R	346	Q	R346Q	Benign	0	1	6	73
MUT:UBE3B:Arg997Pro	PROT:Q7Z3V4	UBE3B	R	997	P	R997P	Pathogenic/Likely pathogenic	1	1	6	246
MUT:UBE3B:Gln727Pro	PROT:Q7Z3V4	UBE3B	Q	727	P	Q727P	Pathogenic	1	1	6	24
MUT:UBE3B:Gly779Arg	PROT:Q7Z3V4	UBE3B	G	779	R	G779R	Pathogenic	1	1	6	28
MUT:UBE3B:Ser280Pro	PROT:Q7Z3V4	UBE3B	S	280	P	S280P	Benign	0	1	6	116
MUT:UBE3B:Thr174Ala	PROT:Q7Z3V4	UBE3B	T	174	A	T174A	Likely benign	0	1	6	10
MUT:UBE3B:Thr917Ala	PROT:Q7Z3V4	UBE3B	T	917	A	T917A	Likely benign	0	1	6	166
MUT:UBE3C:Gln934Pro	PROT:Q15386	UBE3C	Q	934	P	Q934P	Likely benign	0	1	21	27
MUT:UBIAD1:Arg119Gly	PROT:Q9Y5Z9	UBIAD1	R	119	G	R119G	Pathogenic	1	1	4	99
MUT:UBIAD1:Asn102Ser	PROT:Q9Y5Z9	UBIAD1	N	102	S	N102S	Pathogenic	1	1	4	82
MUT:UBIAD1:Asn232Ser	PROT:Q9Y5Z9	UBIAD1	N	232	S	N232S	Pathogenic	1	1	4	212
MUT:UBIAD1:Asp112Gly	PROT:Q9Y5Z9	UBIAD1	D	112	G	D112G	Pathogenic	1	1	4	92
MUT:UBIAD1:Asp236Glu	PROT:Q9Y5Z9	UBIAD1	D	236	E	D236E	Pathogenic	1	1	4	216
MUT:UBIAD1:Asp240Asn	PROT:Q9Y5Z9	UBIAD1	D	240	N	D240N	Likely pathogenic	1	1	4	220
MUT:UBIAD1:Gly177Arg	PROT:Q9Y5Z9	UBIAD1	G	177	R	G177R	Pathogenic	1	1	4	157
MUT:UBIAD1:Gly177Glu	PROT:Q9Y5Z9	UBIAD1	G	177	E	G177E	Likely pathogenic	1	1	4	157
MUT:UBIAD1:Leu100Val	PROT:Q9Y5Z9	UBIAD1	L	100	V	L100V	Benign/Likely benign	0	1	4	80
MUT:UBIAD1:Leu121Arg	PROT:Q9Y5Z9	UBIAD1	L	121	R	L121R	Likely pathogenic	1	1	4	101
MUT:UBIAD1:Lys20Asn	PROT:Q9Y5Z9	UBIAD1	K	20	N	K20N	Likely benign	0	1	4	0
MUT:UBIAD1:Ser171Pro	PROT:Q9Y5Z9	UBIAD1	S	171	P	S171P	Pathogenic	1	1	4	151
MUT:UBIAD1:Ser75Phe	PROT:Q9Y5Z9	UBIAD1	S	75	F	S75F	Benign	0	1	4	55
MUT:UBIAD1:Thr175Ile	PROT:Q9Y5Z9	UBIAD1	T	175	I	T175I	Pathogenic	1	1	4	155
MUT:UBIAD1:Tyr151Cys	PROT:Q9Y5Z9	UBIAD1	Y	151	C	Y151C	Benign	0	2	4	131
MUT:UBN2:Met402Val	PROT:Q6ZU65	UBN2	M	402	V	M402V	Benign	0	4	23	17
MUT:UBN2:Met979Ile	PROT:Q6ZU65	UBN2	M	979	I	M979I	Likely benign	0	1	23	6
MUT:UBN2:Pro120Ser	PROT:Q6ZU65	UBN2	P	120	S	P120S	Benign	0	1	23	123
MUT:UBN2:Pro844Ser	PROT:Q6ZU65	UBN2	P	844	S	P844S	Likely benign	0	1	23	105
MUT:UBN2:Thr824Ile	PROT:Q6ZU65	UBN2	T	824	I	T824I	Benign	0	1	23	125
MUT:UBQLN2:Gln584His	PROT:Q9UHD9	UBQLN2	Q	584	H	Q584H	Benign	0	1	13	319
MUT:UBQLN2:Pro497His	PROT:Q9UHD9	UBQLN2	P	497	H	P497H	Pathogenic	1	1	13	232
MUT:UBQLN2:Pro497Leu	PROT:Q9UHD9	UBQLN2	P	497	L	P497L	Likely pathogenic	1	1	13	232
MUT:UBQLN2:Pro497Ser	PROT:Q9UHD9	UBQLN2	P	497	S	P497S	Pathogenic	1	1	13	232
MUT:UBQLN2:Pro506Leu	PROT:Q9UHD9	UBQLN2	P	506	L	P506L	Likely pathogenic	1	1	13	241
MUT:UBQLN2:Pro506Thr	PROT:Q9UHD9	UBQLN2	P	506	T	P506T	Pathogenic	1	1	13	241
MUT:UBQLN2:Pro555Ser	PROT:Q9UHD9	UBQLN2	P	555	S	P555S	Likely pathogenic	1	1	13	290
MUT:UBQLN2:Thr334Met	PROT:Q9UHD9	UBQLN2	T	334	M	T334M	Likely benign	0	1	13	69
MUT:UBR1:Arg1380Cys	PROT:Q8IWV7	UBR1	R	1380	C	R1380C	Likely benign	0	1	26	201
MUT:UBR1:Arg1612Gly	PROT:Q8IWV7	UBR1	R	1612	G	R1612G	Likely benign	0	15	26	69
MUT:UBR1:Arg754Cys	PROT:Q8IWV7	UBR1	R	754	C	R754C	Likely pathogenic	1	1	26	10
MUT:UBR1:Gln218His	PROT:Q8IWV7	UBR1	Q	218	H	Q218H	Benign/Likely benign	0	1	26	26
MUT:UBR1:Ile1005Val	PROT:Q8IWV7	UBR1	I	1005	V	I1005V	Likely benign	0	1	26	14
MUT:UBR1:Ile414Val	PROT:Q8IWV7	UBR1	I	414	V	I414V	Likely benign	0	1	26	9
MUT:UBR1:Ile899Val	PROT:Q8IWV7	UBR1	I	899	V	I899V	Benign/Likely benign	0	1	26	40
MUT:UBR1:Ser1431Pro	PROT:Q8IWV7	UBR1	S	1431	P	S1431P	Likely pathogenic	1	1	26	250
MUT:UBR1:Ser1538Arg	PROT:Q8IWV7	UBR1	S	1538	R	S1538R	Likely benign	0	1	26	143
MUT:UBR1:Ser405Gly	PROT:Q8IWV7	UBR1	S	405	G	S405G	Benign/Likely benign	0	3	26	18
MUT:UBR1:Val1584Met	PROT:Q8IWV7	UBR1	V	1584	M	V1584M	Likely benign	0	1	26	97
MUT:UBR4:Ala177Ser	PROT:Q5T4S7	UBR4	A	177	S	A177S	Benign	0	1	97	1
MUT:UBR4:Arg3463His	PROT:Q5T4S7	UBR4	R	3463	H	R3463H	Likely pathogenic	1	1	97	1
MUT:UBR4:Asn2330Ser	PROT:Q5T4S7	UBR4	N	2330	S	N2330S	Likely benign	0	1	97	51
MUT:UBR4:Asn2344Ser	PROT:Q5T4S7	UBR4	N	2344	S	N2344S	Likely pathogenic	1	1	97	65
MUT:UBR4:Gly2109Ser	PROT:Q5T4S7	UBR4	G	2109	S	G2109S	Likely pathogenic	1	1	97	22
MUT:UBR4:Ile3550Val	PROT:Q5T4S7	UBR4	I	3550	V	I3550V	Benign	0	1	97	1
MUT:UBR4:Met4867Leu	PROT:Q5T4S7	UBR4	M	4867	L	M4867L	Benign	0	1	97	47
MUT:UBR4:Met844Val	PROT:Q5T4S7	UBR4	M	844	V	M844V	Benign/Likely benign	0	1	97	76
MUT:UBR4:Phe4134Val	PROT:Q5T4S7	UBR4	F	4134	V	F4134V	Likely benign	0	1	97	45
MUT:UBR4:Pro1190Leu	PROT:Q5T4S7	UBR4	P	1190	L	P1190L	Benign	0	1	97	1
MUT:UBR4:Ser893Asn	PROT:Q5T4S7	UBR4	S	893	N	S893N	Benign	0	1	97	27
MUT:UBR4:Thr1107Ala	PROT:Q5T4S7	UBR4	T	1107	A	T1107A	Benign	0	1	97	34
MUT:UBR4:Thr1272Ile	PROT:Q5T4S7	UBR4	T	1272	I	T1272I	Likely benign	0	1	97	83
MUT:UBR4:Thr822Ser	PROT:Q5T4S7	UBR4	T	822	S	T822S	Benign	0	1	97	98
MUT:UBR7:Arg98His	PROT:Q8N806	UBR7	R	98	H	R98H	Likely benign	0	1	19	4
MUT:UCHL1:Ala216Asp	PROT:P09936	UCHL1	A	216	D	A216D	Pathogenic	1	1	14	5
MUT:UCHL1:Glu7Ala	PROT:P09936	UCHL1	E	7	A	E7A	Pathogenic	1	1	14	3
MUT:UCHL1:Ser18Tyr	PROT:P09936	UCHL1	S	18	Y	S18Y	Benign	0	2	14	3
MUT:UFL1:Leu665Val	PROT:O94874	UFL1	L	665	V	L665V	Benign	0	5	19	11
MUT:UFSP2:Ala333Thr	PROT:Q9NUQ7	UFSP2	A	333	T	A333T	Likely benign	0	1	5	46
MUT:UFSP2:Asn459Thr	PROT:Q9NUQ7	UFSP2	N	459	T	N459T	Likely pathogenic	1	1	5	172
MUT:UFSP2:Asp426Ala	PROT:Q9NUQ7	UFSP2	D	426	A	D426A	Pathogenic	1	2	5	139
MUT:UFSP2:Asp426Gly	PROT:Q9NUQ7	UFSP2	D	426	G	D426G	Likely pathogenic	1	1	5	139
MUT:UFSP2:Cys302Ser	PROT:Q9NUQ7	UFSP2	C	302	S	C302S	Pathogenic	1	1	5	15
MUT:UFSP2:His428Arg	PROT:Q9NUQ7	UFSP2	H	428	R	H428R	Likely pathogenic	1	1	5	141
MUT:UFSP2:Tyr290His	PROT:Q9NUQ7	UFSP2	Y	290	H	Y290H	Pathogenic	1	1	5	3
MUT:UFSP2:Tyr458Cys	PROT:Q9NUQ7	UFSP2	Y	458	C	Y458C	Likely pathogenic	1	1	5	171
MUT:UGDH:Ala24Thr	PROT:O60701	UGDH	A	24	T	A24T	Likely pathogenic	1	1	29	16
MUT:UGDH:Ala362Thr	PROT:O60701	UGDH	A	362	T	A362T	Likely pathogenic	1	1	29	8
MUT:UGDH:Ala410Ser	PROT:O60701	UGDH	A	410	S	A410S	Likely pathogenic	1	1	29	24
MUT:UGDH:Ala44Val	PROT:O60701	UGDH	A	44	V	A44V	Pathogenic/Likely pathogenic	1	3	29	3
MUT:UGDH:Ala82Thr	PROT:O60701	UGDH	A	82	T	A82T	Pathogenic/Likely pathogenic	1	2	29	2
MUT:UGDH:Arg141Cys	PROT:O60701	UGDH	R	141	C	R141C	Benign/Likely benign	0	1	29	8
MUT:UGDH:Arg317Gln	PROT:O60701	UGDH	R	317	Q	R317Q	Pathogenic/Likely pathogenic	1	2	29	1
MUT:UGDH:Arg393Trp	PROT:O60701	UGDH	R	393	W	R393W	Likely pathogenic	1	2	29	7
MUT:UGDH:Arg442Trp	PROT:O60701	UGDH	R	442	W	R442W	Likely pathogenic	1	1	29	19
MUT:UGDH:Arg443His	PROT:O60701	UGDH	R	443	H	R443H	Likely pathogenic	1	1	29	18
MUT:UGDH:Asn121His	PROT:O60701	UGDH	N	121	H	N121H	Likely benign	0	1	29	3
MUT:UGDH:Glu217Asp	PROT:O60701	UGDH	E	217	D	E217D	Likely pathogenic	1	1	29	32
MUT:UGDH:Gly271Arg	PROT:O60701	UGDH	G	271	R	G271R	Likely pathogenic	1	1	29	4
MUT:UGDH:His449Arg	PROT:O60701	UGDH	H	449	R	H449R	Likely pathogenic	1	1	29	12
MUT:UGDH:Ile125Thr	PROT:O60701	UGDH	I	125	T	I125T	Likely pathogenic	1	1	29	1
MUT:UGDH:Ile255Thr	PROT:O60701	UGDH	I	255	T	I255T	Likely pathogenic	1	1	29	9
MUT:UGDH:Ile42Thr	PROT:O60701	UGDH	I	42	T	I42T	Likely pathogenic	1	1	29	2
MUT:UGDH:Met306Val	PROT:O60701	UGDH	M	306	V	M306V	Likely pathogenic	1	1	29	3
MUT:UGDH:Pro175Ala	PROT:O60701	UGDH	P	175	A	P175A	Likely pathogenic	1	1	29	2
MUT:UGDH:Ser72Ala	PROT:O60701	UGDH	S	72	A	S72A	Pathogenic/Likely pathogenic	1	2	29	5
MUT:UGDH:Tyr367Cys	PROT:O60701	UGDH	Y	367	C	Y367C	Pathogenic/Likely pathogenic	1	2	29	3
MUT:UGDH:Val248Leu	PROT:O60701	UGDH	V	248	L	V248L	Likely pathogenic	1	1	29	16
MUT:UGDH:Val303Ile	PROT:O60701	UGDH	V	303	I	V303I	Likely pathogenic	1	1	29	6
MUT:UGGT1:Ala711Val	PROT:Q9NYU2	UGGT1	A	711	V	A711V	Pathogenic	1	1	11	37
MUT:UGGT1:Arg1272His	PROT:Q9NYU2	UGGT1	R	1272	H	R1272H	Pathogenic	1	1	11	5
MUT:UGGT1:Gln1155Arg	PROT:Q9NYU2	UGGT1	Q	1155	R	Q1155R	Pathogenic	1	1	11	122
MUT:UGGT1:Lys1237Arg	PROT:Q9NYU2	UGGT1	K	1237	R	K1237R	Benign	0	1	11	40
MUT:UGGT1:Phe723Ser	PROT:Q9NYU2	UGGT1	F	723	S	F723S	Pathogenic	1	1	11	25
MUT:ULK1:Gly762Arg	PROT:O75385	ULK1	G	762	R	G762R	Likely benign	0	1	48	1
MUT:ULK1:Pro574Arg	PROT:O75385	ULK1	P	574	R	P574R	Likely benign	0	1	48	1
MUT:ULK1:Thr242Ile	PROT:O75385	ULK1	T	242	I	T242I	Likely benign	0	1	48	39
MUT:ULK2:His578Arg	PROT:Q8IYT8	ULK2	H	578	R	H578R	Likely pathogenic	1	1	7	22
MUT:UNC119:Arg119Gln	PROT:Q13432	UNC119	R	119	Q	R119Q	Benign/Likely benign	0	1	10	8
MUT:UNC119:Gly22Val	PROT:Q13432	UNC119	G	22	V	G22V	Benign/Likely benign	0	2	10	13
MUT:UNC13B:Ile3506Phe	PROT:O14795	UNC13B	I	3506	F	I3506F	Likely benign	0	2	15	2369
MUT:UNC45A:Ala322Val	PROT:Q9H3U1	UNC45A	A	322	V	A322V	Benign/Likely benign	0	2	31	1
MUT:UNC45A:Ala362Thr	PROT:Q9H3U1	UNC45A	A	362	T	A362T	Likely benign	0	1	31	17
MUT:UNC45A:Ala838Pro	PROT:Q9H3U1	UNC45A	A	838	P	A838P	Pathogenic	1	1	31	8
MUT:UNC45A:Arg240Pro	PROT:Q9H3U1	UNC45A	R	240	P	R240P	Benign	0	1	31	77
MUT:UNC45A:Arg579Lys	PROT:Q9H3U1	UNC45A	R	579	K	R579K	Likely benign	0	1	31	35
MUT:UNC45A:Arg836Trp	PROT:Q9H3U1	UNC45A	R	836	W	R836W	Likely benign	0	1	31	10
MUT:UNC45A:Asp606Asn	PROT:Q9H3U1	UNC45A	D	606	N	D606N	Benign	0	1	31	8
MUT:UNC45A:Gln251Glu	PROT:Q9H3U1	UNC45A	Q	251	E	Q251E	Benign	0	1	31	66
MUT:UNC45A:Glu164Gln	PROT:Q9H3U1	UNC45A	E	164	Q	E164Q	Likely benign	0	1	31	22
MUT:UNC45A:Glu728Lys	PROT:Q9H3U1	UNC45A	E	728	K	E728K	Pathogenic	1	1	31	78
MUT:UNC45A:Gly343Val	PROT:Q9H3U1	UNC45A	G	343	V	G343V	Pathogenic	1	1	31	2
MUT:UNC45A:Thr230Arg	PROT:Q9H3U1	UNC45A	T	230	R	T230R	Pathogenic	1	1	31	87
MUT:UNC5C:Ala628Glu	PROT:O95185	UNC5C	A	628	E	A628E	Benign	0	1	8	122
MUT:UNC5C:Ala628Thr	PROT:O95185	UNC5C	A	628	T	A628T	Benign	0	1	8	122
MUT:UNC5C:Ala679Val	PROT:O95185	UNC5C	A	679	V	A679V	Likely benign	0	1	8	153
MUT:UNC5C:Ala841Thr	PROT:O95185	UNC5C	A	841	T	A841T	Benign	0	1	8	9
MUT:UNC5C:Met721Thr	PROT:O95185	UNC5C	M	721	T	M721T	Benign	0	1	8	111
MUT:UNC5C:Pro689Ala	PROT:O95185	UNC5C	P	689	A	P689A	Benign	0	1	8	143
MUT:UNC5C:Val107Leu	PROT:O95185	UNC5C	V	107	L	V107L	Benign	0	1	8	347
MUT:UPF3B:Ala49Val	PROT:Q9BZI7	UPF3B	A	49	V	A49V	Benign	0	1	22	24
MUT:UPF3B:Arg255Lys	PROT:Q9BZI7	UPF3B	R	255	K	R255K	Benign	0	2	22	55
MUT:UPF3B:Arg358Cys	PROT:Q9BZI7	UPF3B	R	358	C	R358C	Benign	0	1	22	33
MUT:UPF3B:Arg358His	PROT:Q9BZI7	UPF3B	R	358	H	R358H	Benign/Likely benign	0	1	22	33
MUT:UPF3B:Arg361Gln	PROT:Q9BZI7	UPF3B	R	361	Q	R361Q	Likely benign	0	1	22	36
MUT:UPF3B:Arg373Cys	PROT:Q9BZI7	UPF3B	R	373	C	R373C	Benign/Likely benign	0	1	22	33
MUT:UPF3B:Arg374Cys	PROT:Q9BZI7	UPF3B	R	374	C	R374C	Benign/Likely benign	0	1	22	32
MUT:UPF3B:Arg401Trp	PROT:Q9BZI7	UPF3B	R	401	W	R401W	Benign/Likely benign	0	1	22	5
MUT:UPF3B:Gly27Asp	PROT:Q9BZI7	UPF3B	G	27	D	G27D	Likely benign	0	1	22	2
MUT:UPF3B:Lys330Arg	PROT:Q9BZI7	UPF3B	K	330	R	K330R	Benign	0	1	22	5
MUT:UPF3B:Lys367Asn	PROT:Q9BZI7	UPF3B	K	367	N	K367N	Benign/Likely benign	0	1	22	39
MUT:UPF3B:Lys47Thr	PROT:Q9BZI7	UPF3B	K	47	T	K47T	Benign	0	1	22	22
MUT:UPF3B:Thr18Ile	PROT:Q9BZI7	UPF3B	T	18	I	T18I	Benign/Likely benign	0	1	22	0
MUT:UPF3B:Tyr160Asp	PROT:Q9BZI7	UPF3B	Y	160	D	Y160D	Pathogenic	1	1	22	0
MUT:UPK3A:Ala154Pro	PROT:O75631	UPK3A	A	154	P	A154P	Benign	0	1	1	53
MUT:UPK3A:Gln149His	PROT:O75631	UPK3A	Q	149	H	Q149H	Likely benign	0	1	1	48
MUT:UPK3A:Gln91Leu	PROT:O75631	UPK3A	Q	91	L	Q91L	Benign	0	1	1	10
MUT:UPK3A:Ile119Thr	PROT:O75631	UPK3A	I	119	T	I119T	Benign/Likely benign	0	2	1	18
MUT:UPK3A:Ser87Ala	PROT:O75631	UPK3A	S	87	A	S87A	Benign/Likely benign	0	1	1	14
MUT:UPK3A:Val210Ile	PROT:O75631	UPK3A	V	210	I	V210I	Likely benign	0	2	1	109
MUT:UPP1:Arg94Cys	PROT:Q16831	UPP1	R	94	C	R94C	Likely benign	0	1	7	31
MUT:UQCC2:Arg34Gln	PROT:Q9BRT2	UQCC2	R	34	Q	R34Q	Pathogenic	1	1	1	67
MUT:UQCC2:Met107Ile	PROT:Q9BRT2	UQCC2	M	107	I	M107I	Likely benign	0	1	1	6
MUT:UQCRC1:Arg276Cys	PROT:P31930	UQCRC1	R	276	C	R276C	Likely pathogenic	1	1	14	57
MUT:UQCRC1:Asn301Ser	PROT:P31930	UQCRC1	N	301	S	N301S	Likely benign	0	1	14	82
MUT:UQCRC1:Ile311Leu	PROT:P31930	UQCRC1	I	311	L	I311L	Pathogenic	1	1	14	90
MUT:UQCRC1:Leu120Pro	PROT:P31930	UQCRC1	L	120	P	L120P	Likely pathogenic	1	1	14	14
MUT:UQCRC1:Tyr314Ser	PROT:P31930	UQCRC1	Y	314	S	Y314S	Pathogenic	1	1	14	87
MUT:UQCRC2:Arg148Ser	PROT:P22695	UQCRC2	R	148	S	R148S	Benign	0	1	12	34
MUT:UQCRC2:Arg183Gln	PROT:P22695	UQCRC2	R	183	Q	R183Q	Benign	0	1	12	1
MUT:UQCRC2:Arg183Trp	PROT:P22695	UQCRC2	R	183	W	R183W	Pathogenic/Likely pathogenic	1	1	12	1
MUT:UQCRC2:Gln318Pro	PROT:P22695	UQCRC2	Q	318	P	Q318P	Benign/Likely benign	0	2	12	92
MUT:UQCRC2:Gly222Ala	PROT:P22695	UQCRC2	G	222	A	G222A	Pathogenic	1	1	12	4
MUT:UQCRFS1:Ser6Ala	PROT:P47985	UQCRFS1	S	6	A	S6A	Benign	0	1	11	10
MUT:UQCRFS1:Val14Asp	PROT:P47985	UQCRFS1	V	14	D	V14D	Pathogenic	1	2	11	2
MUT:URI1:His11Gln	PROT:O94763	URI1	H	11	Q	H11Q	Benign	0	1	11	42
MUT:URI1:Thr233Ile	PROT:O94763	URI1	T	233	I	T233I	Benign	0	1	11	9
MUT:USF3:Ile1906Thr	PROT:Q68DE3	USF3	I	1906	T	I1906T	Likely benign	0	1	6	128
MUT:USH1C:Ala415Thr	PROT:Q9Y6N9	USH1C	A	415	T	A415T	Benign	0	2	5	88
MUT:USH1C:Arg103His	PROT:Q9Y6N9	USH1C	R	103	H	R103H	Pathogenic/Likely pathogenic	1	3	5	71
MUT:USH1C:Arg864Gln	PROT:Q9Y6N9	USH1C	R	864	Q	R864Q	Benign/Likely benign	0	1	5	537
MUT:USH1C:Asp45Tyr	PROT:Q9Y6N9	USH1C	D	45	Y	D45Y	Pathogenic	1	1	5	129
MUT:USH1C:Glu149Lys	PROT:Q9Y6N9	USH1C	E	149	K	E149K	Likely pathogenic	1	1	5	25
MUT:USH1C:Glu491Gly	PROT:Q9Y6N9	USH1C	E	491	G	E491G	Likely benign	0	1	5	164
MUT:USH1C:Glu819Asp	PROT:Q9Y6N9	USH1C	E	819	D	E819D	Benign	0	2	5	492
MUT:USH1C:Gly104Asp	PROT:Q9Y6N9	USH1C	G	104	D	G104D	Likely pathogenic	1	3	5	70
MUT:USH1C:Gly421Ser	PROT:Q9Y6N9	USH1C	G	421	S	G421S	Benign	0	1	5	94
MUT:USH1C:His34Arg	PROT:Q9Y6N9	USH1C	H	34	R	H34R	Benign/Likely benign	0	1	5	140
MUT:USH1C:Trp182Arg	PROT:Q9Y6N9	USH1C	W	182	R	W182R	Likely pathogenic	1	1	5	7
MUT:USH1C:Val130Ile	PROT:Q9Y6N9	USH1C	V	130	I	V130I	Benign/Likely benign	0	1	5	44
MUT:USH1C:Val13Ala	PROT:Q9Y6N9	USH1C	V	13	A	V13A	Likely pathogenic	1	1	5	161
MUT:USH2A:Ala125Thr	PROT:O75445	USH2A	A	125	T	A125T	Benign	0	3	24	338
MUT:USH2A:Ala1345Pro	PROT:O75445	USH2A	A	1345	P	A1345P	Pathogenic	1	1	24	18
MUT:USH2A:Ala2774Thr	PROT:O75445	USH2A	A	2774	T	A2774T	Likely benign	0	3	24	222
MUT:USH2A:Ala3438Thr	PROT:O75445	USH2A	A	3438	T	A3438T	Likely benign	0	3	24	70
MUT:USH2A:Ala3944Asp	PROT:O75445	USH2A	A	3944	D	A3944D	Pathogenic/Likely pathogenic	1	4	24	197
MUT:USH2A:Ala4423Asp	PROT:O75445	USH2A	A	4423	D	A4423D	Likely pathogenic	1	1	24	64
MUT:USH2A:Ala4511Thr	PROT:O75445	USH2A	A	4511	T	A4511T	Likely pathogenic	1	1	24	16
MUT:USH2A:Ala4740Asp	PROT:O75445	USH2A	A	4740	D	A4740D	Pathogenic	1	5	24	213
MUT:USH2A:Ala4778Asp	PROT:O75445	USH2A	A	4778	D	A4778D	Benign	0	2	24	251
MUT:USH2A:Ala4987Val	PROT:O75445	USH2A	A	4987	V	A4987V	Benign	0	3	24	73
MUT:USH2A:Ala5165Gly	PROT:O75445	USH2A	A	5165	G	A5165G	Likely benign	0	2	24	105
MUT:USH2A:Ala524Asp	PROT:O75445	USH2A	A	524	D	A524D	Pathogenic/Likely pathogenic	1	2	24	7
MUT:USH2A:Arg1486Lys	PROT:O75445	USH2A	R	1486	K	R1486K	Benign	0	2	24	62
MUT:USH2A:Arg1578Cys	PROT:O75445	USH2A	R	1578	C	R1578C	Pathogenic/Likely pathogenic	1	4	24	82
MUT:USH2A:Arg1777Trp	PROT:O75445	USH2A	R	1777	W	R1777W	Pathogenic/Likely pathogenic	1	3	24	117
MUT:USH2A:Arg1870Gln	PROT:O75445	USH2A	R	1870	Q	R1870Q	Benign/Likely benign	0	3	24	39
MUT:USH2A:Arg1998His	PROT:O75445	USH2A	R	1998	H	R1998H	Benign/Likely benign	0	3	24	48
MUT:USH2A:Arg2001Cys	PROT:O75445	USH2A	R	2001	C	R2001C	Benign/Likely benign	0	3	24	51
MUT:USH2A:Arg2175His	PROT:O75445	USH2A	R	2175	H	R2175H	Likely benign	0	3	24	225
MUT:USH2A:Arg2292His	PROT:O75445	USH2A	R	2292	H	R2292H	Benign	0	3	24	254
MUT:USH2A:Arg2509Trp	PROT:O75445	USH2A	R	2509	W	R2509W	Pathogenic/Likely pathogenic	1	4	24	37
MUT:USH2A:Arg274Gly	PROT:O75445	USH2A	R	274	G	R274G	Pathogenic/Likely pathogenic	1	2	24	189
MUT:USH2A:Arg2875Gln	PROT:O75445	USH2A	R	2875	Q	R2875Q	Benign	0	3	24	189
MUT:USH2A:Arg2894Lys	PROT:O75445	USH2A	R	2894	K	R2894K	Pathogenic/Likely pathogenic	1	3	24	170
MUT:USH2A:Arg303His	PROT:O75445	USH2A	R	303	H	R303H	Pathogenic/Likely pathogenic	1	6	24	160
MUT:USH2A:Arg303Ser	PROT:O75445	USH2A	R	303	S	R303S	Pathogenic/Likely pathogenic	1	3	24	160
MUT:USH2A:Arg3124Gly	PROT:O75445	USH2A	R	3124	G	R3124G	Likely pathogenic	1	1	24	53
MUT:USH2A:Arg334Gln	PROT:O75445	USH2A	R	334	Q	R334Q	Pathogenic/Likely pathogenic	1	4	24	129
MUT:USH2A:Arg334Trp	PROT:O75445	USH2A	R	334	W	R334W	Pathogenic/Likely pathogenic	1	6	24	129
MUT:USH2A:Arg3719Cys	PROT:O75445	USH2A	R	3719	C	R3719C	Likely pathogenic	1	1	24	26
MUT:USH2A:Arg3719His	PROT:O75445	USH2A	R	3719	H	R3719H	Pathogenic/Likely pathogenic	1	6	24	26
MUT:USH2A:Arg3905Cys	PROT:O75445	USH2A	R	3905	C	R3905C	Pathogenic	1	6	24	158
MUT:USH2A:Arg4192Cys	PROT:O75445	USH2A	R	4192	C	R4192C	Likely pathogenic	1	7	24	295
MUT:USH2A:Arg4192His	PROT:O75445	USH2A	R	4192	H	R4192H	Pathogenic/Likely pathogenic	1	8	24	295
MUT:USH2A:Arg464Cys	PROT:O75445	USH2A	R	464	C	R464C	Pathogenic/Likely pathogenic	1	4	24	1
MUT:USH2A:Arg464His	PROT:O75445	USH2A	R	464	H	R464H	Pathogenic/Likely pathogenic	1	4	24	1
MUT:USH2A:Arg4674Gly	PROT:O75445	USH2A	R	4674	G	R4674G	Likely pathogenic	1	2	24	147
MUT:USH2A:Arg4848Gln	PROT:O75445	USH2A	R	4848	Q	R4848Q	Benign/Likely benign	0	3	24	212
MUT:USH2A:Arg4935Gln	PROT:O75445	USH2A	R	4935	Q	R4935Q	Likely benign	0	1	24	125
MUT:USH2A:Arg5031Trp	PROT:O75445	USH2A	R	5031	W	R5031W	Benign/Likely benign	0	1	24	29
MUT:USH2A:Arg5143Cys	PROT:O75445	USH2A	R	5143	C	R5143C	Benign/Likely benign	0	3	24	83
MUT:USH2A:Arg5143His	PROT:O75445	USH2A	R	5143	H	R5143H	Benign	0	2	24	83
MUT:USH2A:Arg878His	PROT:O75445	USH2A	R	878	H	R878H	Benign	0	3	24	344
MUT:USH2A:Arg998Lys	PROT:O75445	USH2A	R	998	K	R998K	Likely pathogenic	1	1	24	292
MUT:USH2A:Asn192Thr	PROT:O75445	USH2A	N	192	T	N192T	Pathogenic	1	1	24	271
MUT:USH2A:Asn2014Thr	PROT:O75445	USH2A	N	2014	T	N2014T	Benign/Likely benign	0	2	24	64
MUT:USH2A:Asn2356Ser	PROT:O75445	USH2A	N	2356	S	N2356S	Likely pathogenic	1	1	24	190
MUT:USH2A:Asn2377Ser	PROT:O75445	USH2A	N	2377	S	N2377S	Benign/Likely benign	0	2	24	169
MUT:USH2A:Asn3067Lys	PROT:O75445	USH2A	N	3067	K	N3067K	Likely pathogenic	1	1	24	3
MUT:USH2A:Asn3099Ser	PROT:O75445	USH2A	N	3099	S	N3099S	Benign	0	1	24	28
MUT:USH2A:Asn3199Asp	PROT:O75445	USH2A	N	3199	D	N3199D	Benign/Likely benign	0	2	24	128
MUT:USH2A:Asn346Asp	PROT:O75445	USH2A	N	346	D	N346D	Likely pathogenic	1	1	24	117
MUT:USH2A:Asn346His	PROT:O75445	USH2A	N	346	H	N346H	Pathogenic	1	6	24	117
MUT:USH2A:Asn4292Asp	PROT:O75445	USH2A	N	4292	D	N4292D	Likely pathogenic	1	5	24	195
MUT:USH2A:Asn4762Lys	PROT:O75445	USH2A	N	4762	K	N4762K	Likely pathogenic	1	2	24	235
MUT:USH2A:Asn4762Ser	PROT:O75445	USH2A	N	4762	S	N4762S	Pathogenic/Likely pathogenic	1	2	24	235
MUT:USH2A:Asn4913Lys	PROT:O75445	USH2A	N	4913	K	N4913K	Likely pathogenic	1	1	24	147
MUT:USH2A:Asp1624Tyr	PROT:O75445	USH2A	D	1624	Y	D1624Y	Likely pathogenic	1	1	24	36
MUT:USH2A:Asp1763Val	PROT:O75445	USH2A	D	1763	V	D1763V	Likely pathogenic	1	1	24	103
MUT:USH2A:Asp2279Tyr	PROT:O75445	USH2A	D	2279	Y	D2279Y	Pathogenic	1	1	24	267
MUT:USH2A:Asp3144Asn	PROT:O75445	USH2A	D	3144	N	D3144N	Benign	0	1	24	73
MUT:USH2A:Asp347Gly	PROT:O75445	USH2A	D	347	G	D347G	Pathogenic/Likely pathogenic	1	1	24	116
MUT:USH2A:Asp3511Gly	PROT:O75445	USH2A	D	3511	G	D3511G	Likely benign	0	1	24	3
MUT:USH2A:Asp3553Asn	PROT:O75445	USH2A	D	3553	N	D3553N	Pathogenic/Likely pathogenic	1	2	24	45
MUT:USH2A:Asp606Asn	PROT:O75445	USH2A	D	606	N	D606N	Likely benign	0	1	24	72
MUT:USH2A:Asp644Val	PROT:O75445	USH2A	D	644	V	D644V	Benign/Likely benign	0	3	24	110
MUT:USH2A:Asp656Asn	PROT:O75445	USH2A	D	656	N	D656N	Likely benign	0	5	24	122
MUT:USH2A:Asp703Glu	PROT:O75445	USH2A	D	703	E	D703E	Likely pathogenic	1	1	24	169
MUT:USH2A:Asp974Asn	PROT:O75445	USH2A	D	974	N	D974N	Likely benign	0	1	24	316
MUT:USH2A:Cys1002Ser	PROT:O75445	USH2A	C	1002	S	C1002S	Likely pathogenic	1	1	24	288
MUT:USH2A:Cys163Arg	PROT:O75445	USH2A	C	163	R	C163R	Likely pathogenic	1	1	24	300
MUT:USH2A:Cys2035Gly	PROT:O75445	USH2A	C	2035	G	C2035G	Likely pathogenic	1	1	24	85
MUT:USH2A:Cys2309Arg	PROT:O75445	USH2A	C	2309	R	C2309R	Pathogenic/Likely pathogenic	1	2	24	237
MUT:USH2A:Cys2309Phe	PROT:O75445	USH2A	C	2309	F	C2309F	Pathogenic/Likely pathogenic	1	3	24	237
MUT:USH2A:Cys319Phe	PROT:O75445	USH2A	C	319	F	C319F	Pathogenic	1	1	24	144
MUT:USH2A:Cys319Tyr	PROT:O75445	USH2A	C	319	Y	C319Y	Pathogenic	1	5	24	144
MUT:USH2A:Cys3251Arg	PROT:O75445	USH2A	C	3251	R	C3251R	Pathogenic	1	1	24	180
MUT:USH2A:Cys3267Arg	PROT:O75445	USH2A	C	3267	R	C3267R	Pathogenic/Likely pathogenic	1	6	24	196
MUT:USH2A:Cys3267Trp	PROT:O75445	USH2A	C	3267	W	C3267W	Likely pathogenic	1	2	24	196
MUT:USH2A:Cys3307Ser	PROT:O75445	USH2A	C	3307	S	C3307S	Likely pathogenic	1	1	24	201
MUT:USH2A:Cys3307Tyr	PROT:O75445	USH2A	C	3307	Y	C3307Y	Pathogenic/Likely pathogenic	1	2	24	201
MUT:USH2A:Cys3358Ser	PROT:O75445	USH2A	C	3358	S	C3358S	Likely pathogenic	1	1	24	150
MUT:USH2A:Cys3358Tyr	PROT:O75445	USH2A	C	3358	Y	C3358Y	Pathogenic/Likely pathogenic	1	8	24	150
MUT:USH2A:Cys3416Gly	PROT:O75445	USH2A	C	3416	G	C3416G	Benign	0	1	24	92
MUT:USH2A:Cys3444Tyr	PROT:O75445	USH2A	C	3444	Y	C3444Y	Pathogenic/Likely pathogenic	1	3	24	64
MUT:USH2A:Cys3575Phe	PROT:O75445	USH2A	C	3575	F	C3575F	Likely pathogenic	1	2	24	36
MUT:USH2A:Cys3575Tyr	PROT:O75445	USH2A	C	3575	Y	C3575Y	Pathogenic/Likely pathogenic	1	4	24	36
MUT:USH2A:Cys3666Gly	PROT:O75445	USH2A	C	3666	G	C3666G	Pathogenic/Likely pathogenic	1	3	24	43
MUT:USH2A:Cys4140Gly	PROT:O75445	USH2A	C	4140	G	C4140G	Pathogenic	1	1	24	347
MUT:USH2A:Cys4194Arg	PROT:O75445	USH2A	C	4194	R	C4194R	Pathogenic/Likely pathogenic	1	2	24	293
MUT:USH2A:Cys419Phe	PROT:O75445	USH2A	C	419	F	C419F	Pathogenic	1	7	24	44
MUT:USH2A:Cys4424Arg	PROT:O75445	USH2A	C	4424	R	C4424R	Likely pathogenic	1	1	24	63
MUT:USH2A:Cys4997Tyr	PROT:O75445	USH2A	C	4997	Y	C4997Y	Likely pathogenic	1	1	24	63
MUT:USH2A:Cys536Arg	PROT:O75445	USH2A	C	536	R	C536R	Pathogenic	1	8	24	2
MUT:USH2A:Cys536Ser	PROT:O75445	USH2A	C	536	S	C536S	Pathogenic/Likely pathogenic	1	2	24	2
MUT:USH2A:Cys575Tyr	PROT:O75445	USH2A	C	575	Y	C575Y	Pathogenic/Likely pathogenic	1	3	24	41
MUT:USH2A:Cys608Tyr	PROT:O75445	USH2A	C	608	Y	C608Y	Likely pathogenic	1	1	24	74
MUT:USH2A:Cys617Tyr	PROT:O75445	USH2A	C	617	Y	C617Y	Pathogenic	1	1	24	83
MUT:USH2A:Cys620Phe	PROT:O75445	USH2A	C	620	F	C620F	Pathogenic	1	4	24	86
MUT:USH2A:Cys655Arg	PROT:O75445	USH2A	C	655	R	C655R	Pathogenic/Likely pathogenic	1	1	24	121
MUT:USH2A:Cys655Trp	PROT:O75445	USH2A	C	655	W	C655W	Likely pathogenic	1	1	24	121
MUT:USH2A:Cys662Ser	PROT:O75445	USH2A	C	662	S	C662S	Pathogenic/Likely pathogenic	1	1	24	128
MUT:USH2A:Cys67Arg	PROT:O75445	USH2A	C	67	R	C67R	Likely pathogenic	1	1	24	396
MUT:USH2A:Cys67Gly	PROT:O75445	USH2A	C	67	G	C67G	Likely pathogenic	1	1	24	396
MUT:USH2A:Cys691Tyr	PROT:O75445	USH2A	C	691	Y	C691Y	Likely pathogenic	1	1	24	157
MUT:USH2A:Cys694Ser	PROT:O75445	USH2A	C	694	S	C694S	Pathogenic	1	3	24	160
MUT:USH2A:Cys694Tyr	PROT:O75445	USH2A	C	694	Y	C694Y	Likely pathogenic	1	4	24	160
MUT:USH2A:Cys717Gly	PROT:O75445	USH2A	C	717	G	C717G	Pathogenic/Likely pathogenic	1	2	24	183
MUT:USH2A:Cys717Ser	PROT:O75445	USH2A	C	717	S	C717S	Pathogenic	1	2	24	183
MUT:USH2A:Cys759Phe	PROT:O75445	USH2A	C	759	F	C759F	Pathogenic	1	10	24	225
MUT:USH2A:Cys766Arg	PROT:O75445	USH2A	C	766	R	C766R	Pathogenic/Likely pathogenic	1	6	24	232
MUT:USH2A:Cys766Tyr	PROT:O75445	USH2A	C	766	Y	C766Y	Pathogenic/Likely pathogenic	1	1	24	232
MUT:USH2A:Cys777Tyr	PROT:O75445	USH2A	C	777	Y	C777Y	Pathogenic/Likely pathogenic	1	2	24	243
MUT:USH2A:Cys934Arg	PROT:O75445	USH2A	C	934	R	C934R	Likely pathogenic	1	1	24	356
MUT:USH2A:Cys934Trp	PROT:O75445	USH2A	C	934	W	C934W	Pathogenic/Likely pathogenic	1	7	24	356
MUT:USH2A:Gln1417His	PROT:O75445	USH2A	Q	1417	H	Q1417H	Pathogenic/Likely pathogenic	1	4	24	7
MUT:USH2A:Gln3086His	PROT:O75445	USH2A	Q	3086	H	Q3086H	Pathogenic/Likely pathogenic	1	3	24	15
MUT:USH2A:Gln4203Arg	PROT:O75445	USH2A	Q	4203	R	Q4203R	Benign	0	3	24	284
MUT:USH2A:Gln4592Arg	PROT:O75445	USH2A	Q	4592	R	Q4592R	Likely benign	0	2	24	65
MUT:USH2A:Gln4662Glu	PROT:O75445	USH2A	Q	4662	E	Q4662E	Benign	0	2	24	135
MUT:USH2A:Gln4711His	PROT:O75445	USH2A	Q	4711	H	Q4711H	Pathogenic	1	1	24	184
MUT:USH2A:Glu1715Gly	PROT:O75445	USH2A	E	1715	G	E1715G	Likely pathogenic	1	1	24	55
MUT:USH2A:Glu1926Lys	PROT:O75445	USH2A	E	1926	K	E1926K	Pathogenic/Likely pathogenic	1	1	24	17
MUT:USH2A:Glu2238Ala	PROT:O75445	USH2A	E	2238	A	E2238A	Benign/Likely benign	0	1	24	288
MUT:USH2A:Glu2613Asp	PROT:O75445	USH2A	E	2613	D	E2613D	Likely benign	0	2	24	61
MUT:USH2A:Glu284Gly	PROT:O75445	USH2A	E	284	G	E284G	Pathogenic/Likely pathogenic	1	3	24	179
MUT:USH2A:Glu3088Lys	PROT:O75445	USH2A	E	3088	K	E3088K	Benign/Likely benign	0	4	24	17
MUT:USH2A:Glu3305Asp	PROT:O75445	USH2A	E	3305	D	E3305D	Benign/Likely benign	0	3	24	203
MUT:USH2A:Glu3411Ala	PROT:O75445	USH2A	E	3411	A	E3411A	Benign	0	2	24	97
MUT:USH2A:Glu3448Gln	PROT:O75445	USH2A	E	3448	Q	E3448Q	Likely pathogenic	1	1	24	60
MUT:USH2A:Glu3448Lys	PROT:O75445	USH2A	E	3448	K	E3448K	Pathogenic/Likely pathogenic	1	5	24	60
MUT:USH2A:Glu3731Gln	PROT:O75445	USH2A	E	3731	Q	E3731Q	Benign/Likely benign	0	2	24	14
MUT:USH2A:Glu3802Lys	PROT:O75445	USH2A	E	3802	K	E3802K	Benign/Likely benign	0	2	24	55
MUT:USH2A:Gly1029Ala	PROT:O75445	USH2A	G	1029	A	G1029A	Likely pathogenic	1	1	24	261
MUT:USH2A:Gly1301Val	PROT:O75445	USH2A	G	1301	V	G1301V	Benign	0	6	24	11
MUT:USH2A:Gly1526Arg	PROT:O75445	USH2A	G	1526	R	G1526R	Pathogenic	1	3	24	102
MUT:USH2A:Gly1649Arg	PROT:O75445	USH2A	G	1649	R	G1649R	Likely pathogenic	1	2	24	11
MUT:USH2A:Gly1671Asp	PROT:O75445	USH2A	G	1671	D	G1671D	Pathogenic	1	6	24	11
MUT:USH2A:Gly1723Arg	PROT:O75445	USH2A	G	1723	R	G1723R	Pathogenic/Likely pathogenic	1	5	24	63
MUT:USH2A:Gly1723Glu	PROT:O75445	USH2A	G	1723	E	G1723E	Pathogenic	1	1	24	63
MUT:USH2A:Gly1840Val	PROT:O75445	USH2A	G	1840	V	G1840V	Pathogenic	1	1	24	69
MUT:USH2A:Gly1861Ser	PROT:O75445	USH2A	G	1861	S	G1861S	Pathogenic	1	6	24	48
MUT:USH2A:Gly229Arg	PROT:O75445	USH2A	G	229	R	G229R	Likely pathogenic	1	1	24	234
MUT:USH2A:Gly2313Cys	PROT:O75445	USH2A	G	2313	C	G2313C	Pathogenic/Likely pathogenic	1	7	24	233
MUT:USH2A:Gly257Arg	PROT:O75445	USH2A	G	257	R	G257R	Pathogenic/Likely pathogenic	1	1	24	206
MUT:USH2A:Gly268Arg	PROT:O75445	USH2A	G	268	R	G268R	Pathogenic/Likely pathogenic	1	7	24	195
MUT:USH2A:Gly2752Arg	PROT:O75445	USH2A	G	2752	R	G2752R	Pathogenic/Likely pathogenic	1	5	24	200
MUT:USH2A:Gly3262Val	PROT:O75445	USH2A	G	3262	V	G3262V	Likely pathogenic	1	1	24	191
MUT:USH2A:Gly3320Cys	PROT:O75445	USH2A	G	3320	C	G3320C	Pathogenic/Likely pathogenic	1	4	24	188
MUT:USH2A:Gly3529Ser	PROT:O75445	USH2A	G	3529	S	G3529S	Pathogenic/Likely pathogenic	1	3	24	21
MUT:USH2A:Gly3546Arg	PROT:O75445	USH2A	G	3546	R	G3546R	Pathogenic/Likely pathogenic	1	3	24	38
MUT:USH2A:Gly3546Glu	PROT:O75445	USH2A	G	3546	E	G3546E	Likely pathogenic	1	1	24	38
MUT:USH2A:Gly3574Val	PROT:O75445	USH2A	G	3574	V	G3574V	Pathogenic/Likely pathogenic	1	2	24	37
MUT:USH2A:Gly3710Asp	PROT:O75445	USH2A	G	3710	D	G3710D	Pathogenic	1	1	24	35
MUT:USH2A:Gly3756Ser	PROT:O75445	USH2A	G	3756	S	G3756S	Likely pathogenic	1	1	24	9
MUT:USH2A:Gly3895Glu	PROT:O75445	USH2A	G	3895	E	G3895E	Likely pathogenic	1	1	24	148
MUT:USH2A:Gly4095Asp	PROT:O75445	USH2A	G	4095	D	G4095D	Pathogenic/Likely pathogenic	1	3	24	348
MUT:USH2A:Gly4340Arg	PROT:O75445	USH2A	G	4340	R	G4340R	Likely pathogenic	1	1	24	147
MUT:USH2A:Gly4340Val	PROT:O75445	USH2A	G	4340	V	G4340V	Likely pathogenic	1	1	24	147
MUT:USH2A:Gly4489Asp	PROT:O75445	USH2A	G	4489	D	G4489D	Likely pathogenic	1	2	24	2
MUT:USH2A:Gly4489Ser	PROT:O75445	USH2A	G	4489	S	G4489S	Pathogenic	1	3	24	2
MUT:USH2A:Gly4516Ala	PROT:O75445	USH2A	G	4516	A	G4516A	Pathogenic/Likely pathogenic	1	2	24	11
MUT:USH2A:Gly4516Trp	PROT:O75445	USH2A	G	4516	W	G4516W	Pathogenic/Likely pathogenic	1	3	24	11
MUT:USH2A:Gly4616Val	PROT:O75445	USH2A	G	4616	V	G4616V	Pathogenic/Likely pathogenic	1	4	24	89
MUT:USH2A:Gly4647Arg	PROT:O75445	USH2A	G	4647	R	G4647R	Likely benign	0	1	24	120
MUT:USH2A:Gly466Val	PROT:O75445	USH2A	G	466	V	G466V	Pathogenic/Likely pathogenic	1	2	24	1
MUT:USH2A:Gly4759Glu	PROT:O75445	USH2A	G	4759	E	G4759E	Likely benign	0	4	24	232
MUT:USH2A:Gly4763Arg	PROT:O75445	USH2A	G	4763	R	G4763R	Pathogenic/Likely pathogenic	1	4	24	236
MUT:USH2A:Gly4763Glu	PROT:O75445	USH2A	G	4763	E	G4763E	Pathogenic/Likely pathogenic	1	1	24	236
MUT:USH2A:Gly4817Glu	PROT:O75445	USH2A	G	4817	E	G4817E	Likely pathogenic	1	1	24	243
MUT:USH2A:Gly4838Arg	PROT:O75445	USH2A	G	4838	R	G4838R	Likely benign	0	1	24	222
MUT:USH2A:Gly4838Glu	PROT:O75445	USH2A	G	4838	E	G4838E	Benign/Likely benign	0	3	24	222
MUT:USH2A:Gly4857Val	PROT:O75445	USH2A	G	4857	V	G4857V	Likely pathogenic	1	2	24	203
MUT:USH2A:Gly516Val	PROT:O75445	USH2A	G	516	V	G516V	Pathogenic/Likely pathogenic	1	3	24	15
MUT:USH2A:Gly59Glu	PROT:O75445	USH2A	G	59	E	G59E	Likely pathogenic	1	3	24	404
MUT:USH2A:Gly603Arg	PROT:O75445	USH2A	G	603	R	G603R	Likely pathogenic	1	1	24	69
MUT:USH2A:Gly713Arg	PROT:O75445	USH2A	G	713	R	G713R	Benign/Likely benign	0	3	24	179
MUT:USH2A:Gly732Val	PROT:O75445	USH2A	G	732	V	G732V	Likely pathogenic	1	2	24	198
MUT:USH2A:His3607Pro	PROT:O75445	USH2A	H	3607	P	H3607P	Pathogenic/Likely pathogenic	1	3	24	4
MUT:USH2A:His4248Arg	PROT:O75445	USH2A	H	4248	R	H4248R	Benign/Likely benign	0	2	24	239
MUT:USH2A:His4603Pro	PROT:O75445	USH2A	H	4603	P	H4603P	Likely pathogenic	1	2	24	76
MUT:USH2A:His521Arg	PROT:O75445	USH2A	H	521	R	H521R	Likely pathogenic	1	1	24	10
MUT:USH2A:Ile1665Thr	PROT:O75445	USH2A	I	1665	T	I1665T	Benign/Likely benign	0	2	24	5
MUT:USH2A:Ile2106Thr	PROT:O75445	USH2A	I	2106	T	I2106T	Benign	0	2	24	156
MUT:USH2A:Ile2169Thr	PROT:O75445	USH2A	I	2169	T	I2169T	Benign	0	2	24	219
MUT:USH2A:Ile223Thr	PROT:O75445	USH2A	I	223	T	I223T	Pathogenic	1	1	24	240
MUT:USH2A:Ile3140Asn	PROT:O75445	USH2A	I	3140	N	I3140N	Likely pathogenic	1	1	24	69
MUT:USH2A:Ile3620Thr	PROT:O75445	USH2A	I	3620	T	I3620T	Pathogenic/Likely pathogenic	1	3	24	3
MUT:USH2A:Ile3620Val	PROT:O75445	USH2A	I	3620	V	I3620V	Benign/Likely benign	0	2	24	3
MUT:USH2A:Ile397Lys	PROT:O75445	USH2A	I	397	K	I397K	Pathogenic/Likely pathogenic	1	1	24	66
MUT:USH2A:Ile4052Val	PROT:O75445	USH2A	I	4052	V	I4052V	Likely benign	0	1	24	305
MUT:USH2A:Ile4283Thr	PROT:O75445	USH2A	I	4283	T	I4283T	Likely pathogenic	1	1	24	204
MUT:USH2A:Ile4386Phe	PROT:O75445	USH2A	I	4386	F	I4386F	Likely pathogenic	1	2	24	101
MUT:USH2A:Ile5126Thr	PROT:O75445	USH2A	I	5126	T	I5126T	Benign/Likely benign	0	2	24	66
MUT:USH2A:Ile514Thr	PROT:O75445	USH2A	I	514	T	I514T	Likely pathogenic	1	1	24	17
MUT:USH2A:Leu1378Pro	PROT:O75445	USH2A	L	1378	P	L1378P	Pathogenic/Likely pathogenic	1	4	24	46
MUT:USH2A:Leu1572Phe	PROT:O75445	USH2A	L	1572	F	L1572F	Likely benign	0	2	24	88
MUT:USH2A:Leu1673Pro	PROT:O75445	USH2A	L	1673	P	L1673P	Likely pathogenic	1	2	24	13
MUT:USH2A:Leu280Phe	PROT:O75445	USH2A	L	280	F	L280F	Pathogenic/Likely pathogenic	1	2	24	183
MUT:USH2A:Leu2886Phe	PROT:O75445	USH2A	L	2886	F	L2886F	Benign/Likely benign	0	2	24	178
MUT:USH2A:Leu4522Phe	PROT:O75445	USH2A	L	4522	F	L4522F	Likely pathogenic	1	1	24	5
MUT:USH2A:Leu4956Phe	PROT:O75445	USH2A	L	4956	F	L4956F	Likely benign	0	1	24	104
MUT:USH2A:Leu619Pro	PROT:O75445	USH2A	L	619	P	L619P	Likely pathogenic	1	1	24	85
MUT:USH2A:Lys2026Arg	PROT:O75445	USH2A	K	2026	R	K2026R	Benign/Likely benign	0	2	24	76
MUT:USH2A:Lys2079Thr	PROT:O75445	USH2A	K	2079	T	K2079T	Benign	0	2	24	129
MUT:USH2A:Lys2080Asn	PROT:O75445	USH2A	K	2080	N	K2080N	Benign/Likely benign	0	3	24	130
MUT:USH2A:Lys5026Glu	PROT:O75445	USH2A	K	5026	E	K5026E	Benign/Likely benign	0	3	24	34
MUT:USH2A:Lys559Gln	PROT:O75445	USH2A	K	559	Q	K559Q	Likely pathogenic	1	2	24	25
MUT:USH2A:Met1820Thr	PROT:O75445	USH2A	M	1820	T	M1820T	Likely benign	0	1	24	89
MUT:USH2A:Met2387Thr	PROT:O75445	USH2A	M	2387	T	M2387T	Benign	0	2	24	159
MUT:USH2A:Met3271Ile	PROT:O75445	USH2A	M	3271	I	M3271I	Likely benign	0	3	24	200
MUT:USH2A:Met3868Val	PROT:O75445	USH2A	M	3868	V	M3868V	Benign/Likely benign	0	2	24	121
MUT:USH2A:Met4447Leu	PROT:O75445	USH2A	M	4447	L	M4447L	Pathogenic/Likely pathogenic	1	1	24	40
MUT:USH2A:Phe1442Ser	PROT:O75445	USH2A	F	1442	S	F1442S	Pathogenic	1	1	24	18
MUT:USH2A:Phe1868Cys	PROT:O75445	USH2A	F	1868	C	F1868C	Pathogenic/Likely pathogenic	1	2	24	41
MUT:USH2A:Phe2786Ser	PROT:O75445	USH2A	F	2786	S	F2786S	Benign/Likely benign	0	3	24	234
MUT:USH2A:Phe4119Ser	PROT:O75445	USH2A	F	4119	S	F4119S	Pathogenic	1	1	24	368
MUT:USH2A:Phe4589Leu	PROT:O75445	USH2A	F	4589	L	F4589L	Likely benign	0	1	24	62
MUT:USH2A:Phe4602Leu	PROT:O75445	USH2A	F	4602	L	F4602L	Pathogenic	1	1	24	75
MUT:USH2A:Phe4602Ser	PROT:O75445	USH2A	F	4602	S	F4602S	Likely benign	0	1	24	75
MUT:USH2A:Pro1368Ser	PROT:O75445	USH2A	P	1368	S	P1368S	Pathogenic	1	1	24	41
MUT:USH2A:Pro1372His	PROT:O75445	USH2A	P	1372	H	P1372H	Likely benign	0	1	24	45
MUT:USH2A:Pro1836Thr	PROT:O75445	USH2A	P	1836	T	P1836T	Pathogenic/Likely pathogenic	1	3	24	73
MUT:USH2A:Pro1843Leu	PROT:O75445	USH2A	P	1843	L	P1843L	Pathogenic/Likely pathogenic	1	1	24	66
MUT:USH2A:Pro1978Ser	PROT:O75445	USH2A	P	1978	S	P1978S	Benign/Likely benign	0	3	24	28
MUT:USH2A:Pro2210Ala	PROT:O75445	USH2A	P	2210	A	P2210A	Benign/Likely benign	0	3	24	260
MUT:USH2A:Pro2241His	PROT:O75445	USH2A	P	2241	H	P2241H	Likely pathogenic	1	2	24	291
MUT:USH2A:Pro2241Leu	PROT:O75445	USH2A	P	2241	L	P2241L	Pathogenic/Likely pathogenic	1	4	24	291
MUT:USH2A:Pro2329His	PROT:O75445	USH2A	P	2329	H	P2329H	Pathogenic/Likely pathogenic	1	2	24	217
MUT:USH2A:Pro2624Leu	PROT:O75445	USH2A	P	2624	L	P2624L	Pathogenic/Likely pathogenic	1	3	24	72
MUT:USH2A:Pro3114Ser	PROT:O75445	USH2A	P	3114	S	P3114S	Benign/Likely benign	0	3	24	43
MUT:USH2A:Pro3116Thr	PROT:O75445	USH2A	P	3116	T	P3116T	Pathogenic/Likely pathogenic	1	2	24	45
MUT:USH2A:Pro3272Leu	PROT:O75445	USH2A	P	3272	L	P3272L	Pathogenic/Likely pathogenic	1	5	24	201
MUT:USH2A:Pro3468Leu	PROT:O75445	USH2A	P	3468	L	P3468L	Likely pathogenic	1	1	24	40
MUT:USH2A:Pro3504Ala	PROT:O75445	USH2A	P	3504	A	P3504A	Benign	0	2	24	4
MUT:USH2A:Pro3836Leu	PROT:O75445	USH2A	P	3836	L	P3836L	Likely pathogenic	1	1	24	89
MUT:USH2A:Pro3893Thr	PROT:O75445	USH2A	P	3893	T	P3893T	Benign/Likely benign	0	3	24	146
MUT:USH2A:Pro394Thr	PROT:O75445	USH2A	P	394	T	P394T	Likely pathogenic	1	1	24	69
MUT:USH2A:Pro4444Leu	PROT:O75445	USH2A	P	4444	L	P4444L	Pathogenic/Likely pathogenic	1	2	24	43
MUT:USH2A:Pro4818Leu	PROT:O75445	USH2A	P	4818	L	P4818L	Pathogenic/Likely pathogenic	1	7	24	242
MUT:USH2A:Pro5007Leu	PROT:O75445	USH2A	P	5007	L	P5007L	Likely pathogenic	1	2	24	53
MUT:USH2A:Ser1122Ala	PROT:O75445	USH2A	S	1122	A	S1122A	Benign/Likely benign	0	4	24	168
MUT:USH2A:Ser1136Arg	PROT:O75445	USH2A	S	1136	R	S1136R	Pathogenic/Likely pathogenic	1	2	24	154
MUT:USH2A:Ser1136Asn	PROT:O75445	USH2A	S	1136	N	S1136N	Pathogenic	1	3	24	154
MUT:USH2A:Ser1375Leu	PROT:O75445	USH2A	S	1375	L	S1375L	Pathogenic/Likely pathogenic	1	3	24	48
MUT:USH2A:Ser180Pro	PROT:O75445	USH2A	S	180	P	S180P	Pathogenic	1	3	24	283
MUT:USH2A:Ser2170Arg	PROT:O75445	USH2A	S	2170	R	S2170R	Benign/Likely benign	0	2	24	220
MUT:USH2A:Ser2170Asn	PROT:O75445	USH2A	S	2170	N	S2170N	Likely benign	0	1	24	220
MUT:USH2A:Ser2196Thr	PROT:O75445	USH2A	S	2196	T	S2196T	Benign	0	2	24	246
MUT:USH2A:Ser2445Phe	PROT:O75445	USH2A	S	2445	F	S2445F	Benign	0	4	24	101
MUT:USH2A:Ser2513Ala	PROT:O75445	USH2A	S	2513	A	S2513A	Likely benign	0	1	24	33
MUT:USH2A:Ser2907Arg	PROT:O75445	USH2A	S	2907	R	S2907R	Likely pathogenic	1	1	24	157
MUT:USH2A:Ser3578Asn	PROT:O75445	USH2A	S	3578	N	S3578N	Likely pathogenic	1	1	24	33
MUT:USH2A:Ser3669Arg	PROT:O75445	USH2A	S	3669	R	S3669R	Likely pathogenic	1	1	24	46
MUT:USH2A:Ser391Arg	PROT:O75445	USH2A	S	391	R	S391R	Likely pathogenic	1	1	24	72
MUT:USH2A:Ser391Ile	PROT:O75445	USH2A	S	391	I	S391I	Pathogenic	1	1	24	72
MUT:USH2A:Ser4054Ile	PROT:O75445	USH2A	S	4054	I	S4054I	Likely pathogenic	1	1	24	307
MUT:USH2A:Ser4251Ile	PROT:O75445	USH2A	S	4251	I	S4251I	Likely pathogenic	1	1	24	236
MUT:USH2A:Ser4588Tyr	PROT:O75445	USH2A	S	4588	Y	S4588Y	Benign/Likely benign	0	2	24	61
MUT:USH2A:Ser4748Phe	PROT:O75445	USH2A	S	4748	F	S4748F	Pathogenic/Likely pathogenic	1	5	24	221
MUT:USH2A:Ser4772Phe	PROT:O75445	USH2A	S	4772	F	S4772F	Benign/Likely benign	0	2	24	245
MUT:USH2A:Ser5188Gly	PROT:O75445	USH2A	S	5188	G	S5188G	Benign	0	3	24	128
MUT:USH2A:Ser841Tyr	PROT:O75445	USH2A	S	841	Y	S841Y	Benign	0	5	24	307
MUT:USH2A:Thr1462Ile	PROT:O75445	USH2A	T	1462	I	T1462I	Pathogenic/Likely pathogenic	1	2	24	38
MUT:USH2A:Thr1515Ala	PROT:O75445	USH2A	T	1515	A	T1515A	Benign/Likely benign	0	2	24	91
MUT:USH2A:Thr2086Asn	PROT:O75445	USH2A	T	2086	N	T2086N	Benign/Likely benign	0	1	24	136
MUT:USH2A:Thr2310Met	PROT:O75445	USH2A	T	2310	M	T2310M	Pathogenic/Likely pathogenic	1	2	24	236
MUT:USH2A:Thr2815Ala	PROT:O75445	USH2A	T	2815	A	T2815A	Likely benign	0	1	24	249
MUT:USH2A:Thr281Lys	PROT:O75445	USH2A	T	281	K	T281K	Pathogenic/Likely pathogenic	1	5	24	182
MUT:USH2A:Thr3115Ala	PROT:O75445	USH2A	T	3115	A	T3115A	Benign/Likely benign	0	2	24	44
MUT:USH2A:Thr3494Ala	PROT:O75445	USH2A	T	3494	A	T3494A	Likely pathogenic	1	1	24	14
MUT:USH2A:Thr352Ile	PROT:O75445	USH2A	T	352	I	T352I	Pathogenic/Likely pathogenic	1	8	24	111
MUT:USH2A:Thr3571Ala	PROT:O75445	USH2A	T	3571	A	T3571A	Likely pathogenic	1	1	24	40
MUT:USH2A:Thr3571Met	PROT:O75445	USH2A	T	3571	M	T3571M	Pathogenic/Likely pathogenic	1	7	24	40
MUT:USH2A:Thr3667Pro	PROT:O75445	USH2A	T	3667	P	T3667P	Pathogenic/Likely pathogenic	1	5	24	44
MUT:USH2A:Thr3835Ile	PROT:O75445	USH2A	T	3835	I	T3835I	Benign/Likely benign	0	2	24	88
MUT:USH2A:Thr3936Pro	PROT:O75445	USH2A	T	3936	P	T3936P	Pathogenic/Likely pathogenic	1	2	24	189
MUT:USH2A:Thr4169Ala	PROT:O75445	USH2A	T	4169	A	T4169A	Likely benign	0	5	24	318
MUT:USH2A:Thr4169Pro	PROT:O75445	USH2A	T	4169	P	T4169P	Pathogenic	1	1	24	318
MUT:USH2A:Thr4337Arg	PROT:O75445	USH2A	T	4337	R	T4337R	Likely pathogenic	1	1	24	150
MUT:USH2A:Thr4337Met	PROT:O75445	USH2A	T	4337	M	T4337M	Pathogenic/Likely pathogenic	1	5	24	150
MUT:USH2A:Thr4425Lys	PROT:O75445	USH2A	T	4425	K	T4425K	Pathogenic	1	1	24	62
MUT:USH2A:Thr4425Met	PROT:O75445	USH2A	T	4425	M	T4425M	Pathogenic/Likely pathogenic	1	6	24	62
MUT:USH2A:Thr4439Ile	PROT:O75445	USH2A	T	4439	I	T4439I	Pathogenic/Likely pathogenic	1	7	24	48
MUT:USH2A:Thr4809Ile	PROT:O75445	USH2A	T	4809	I	T4809I	Pathogenic/Likely pathogenic	1	4	24	251
MUT:USH2A:Thr4888Ser	PROT:O75445	USH2A	T	4888	S	T4888S	Benign	0	2	24	172
MUT:USH2A:Thr4954Ser	PROT:O75445	USH2A	T	4954	S	T4954S	Likely benign	0	1	24	106
MUT:USH2A:Thr4999Ile	PROT:O75445	USH2A	T	4999	I	T4999I	Pathogenic/Likely pathogenic	1	1	24	61
MUT:USH2A:Thr5006Met	PROT:O75445	USH2A	T	5006	M	T5006M	Pathogenic/Likely pathogenic	1	4	24	54
MUT:USH2A:Trp1382Cys	PROT:O75445	USH2A	W	1382	C	W1382C	Pathogenic	1	1	24	42
MUT:USH2A:Trp2744Cys	PROT:O75445	USH2A	W	2744	C	W2744C	Pathogenic/Likely pathogenic	1	4	24	192
MUT:USH2A:Trp3130Arg	PROT:O75445	USH2A	W	3130	R	W3130R	Likely pathogenic	1	2	24	59
MUT:USH2A:Trp3521Arg	PROT:O75445	USH2A	W	3521	R	W3521R	Pathogenic/Likely pathogenic	1	7	24	13
MUT:USH2A:Trp3685Arg	PROT:O75445	USH2A	W	3685	R	W3685R	Likely pathogenic	1	1	24	60
MUT:USH2A:Trp3887Leu	PROT:O75445	USH2A	W	3887	L	W3887L	Pathogenic	1	2	24	140
MUT:USH2A:Trp409Cys	PROT:O75445	USH2A	W	409	C	W409C	Likely pathogenic	1	1	24	54
MUT:USH2A:Trp4149Arg	PROT:O75445	USH2A	W	4149	R	W4149R	Benign	0	2	24	338
MUT:USH2A:Trp4175Cys	PROT:O75445	USH2A	W	4175	C	W4175C	Pathogenic	1	1	24	312
MUT:USH2A:Trp4233Arg	PROT:O75445	USH2A	W	4233	R	W4233R	Likely pathogenic	1	1	24	254
MUT:USH2A:Trp4464Arg	PROT:O75445	USH2A	W	4464	R	W4464R	Likely pathogenic	1	1	24	23
MUT:USH2A:Trp4552Arg	PROT:O75445	USH2A	W	4552	R	W4552R	Likely pathogenic	1	1	24	25
MUT:USH2A:Tyr1123Cys	PROT:O75445	USH2A	Y	1123	C	Y1123C	Pathogenic/Likely pathogenic	1	4	24	167
MUT:USH2A:Tyr1123His	PROT:O75445	USH2A	Y	1123	H	Y1123H	Pathogenic/Likely pathogenic	1	1	24	167
MUT:USH2A:Tyr3143Cys	PROT:O75445	USH2A	Y	3143	C	Y3143C	Pathogenic/Likely pathogenic	1	1	24	72
MUT:USH2A:Tyr3474Cys	PROT:O75445	USH2A	Y	3474	C	Y3474C	Pathogenic/Likely pathogenic	1	3	24	34
MUT:USH2A:Tyr3900Cys	PROT:O75445	USH2A	Y	3900	C	Y3900C	Pathogenic/Likely pathogenic	1	1	24	153
MUT:USH2A:Tyr3900Phe	PROT:O75445	USH2A	Y	3900	F	Y3900F	Pathogenic	1	2	24	153
MUT:USH2A:Tyr4238His	PROT:O75445	USH2A	Y	4238	H	Y4238H	Likely pathogenic	1	1	24	249
MUT:USH2A:Tyr4273His	PROT:O75445	USH2A	Y	4273	H	Y4273H	Benign/Likely benign	0	2	24	214
MUT:USH2A:Tyr4331Cys	PROT:O75445	USH2A	Y	4331	C	Y4331C	Pathogenic/Likely pathogenic	1	1	24	156
MUT:USH2A:Tyr493Cys	PROT:O75445	USH2A	Y	493	C	Y493C	Likely pathogenic	1	4	24	26
MUT:USH2A:Tyr90Cys	PROT:O75445	USH2A	Y	90	C	Y90C	Pathogenic/Likely pathogenic	1	1	24	373
MUT:USH2A:Val164Phe	PROT:O75445	USH2A	V	164	F	V164F	Pathogenic/Likely pathogenic	1	4	24	299
MUT:USH2A:Val1816Gly	PROT:O75445	USH2A	V	1816	G	V1816G	Pathogenic/Likely pathogenic	1	1	24	93
MUT:USH2A:Val1833Glu	PROT:O75445	USH2A	V	1833	E	V1833E	Likely pathogenic	1	1	24	76
MUT:USH2A:Val1839Glu	PROT:O75445	USH2A	V	1839	E	V1839E	Likely pathogenic	1	4	24	70
MUT:USH2A:Val216Gly	PROT:O75445	USH2A	V	216	G	V216G	Likely pathogenic	1	1	24	247
MUT:USH2A:Val218Glu	PROT:O75445	USH2A	V	218	E	V218E	Pathogenic/Likely pathogenic	1	7	24	245
MUT:USH2A:Val2228Glu	PROT:O75445	USH2A	V	2228	E	V2228E	Benign/Likely benign	0	3	24	278
MUT:USH2A:Val2347Glu	PROT:O75445	USH2A	V	2347	E	V2347E	Pathogenic	1	1	24	199
MUT:USH2A:Val2453Asp	PROT:O75445	USH2A	V	2453	D	V2453D	Likely pathogenic	1	1	24	93
MUT:USH2A:Val2562Ala	PROT:O75445	USH2A	V	2562	A	V2562A	Benign/Likely benign	0	2	24	10
MUT:USH2A:Val2820Ile	PROT:O75445	USH2A	V	2820	I	V2820I	Benign/Likely benign	0	2	24	244
MUT:USH2A:Val2916Ala	PROT:O75445	USH2A	V	2916	A	V2916A	Likely benign	0	1	24	148
MUT:USH2A:Val3518Ile	PROT:O75445	USH2A	V	3518	I	V3518I	Benign	0	2	24	10
MUT:USH2A:Val369Glu	PROT:O75445	USH2A	V	369	E	V369E	Likely pathogenic	1	1	24	94
MUT:USH2A:Val3823Ala	PROT:O75445	USH2A	V	3823	A	V3823A	Likely benign	0	1	24	76
MUT:USH2A:Val4190Ala	PROT:O75445	USH2A	V	4190	A	V4190A	Likely pathogenic	1	1	24	297
MUT:USH2A:Val4433Leu	PROT:O75445	USH2A	V	4433	L	V4433L	Benign/Likely benign	0	2	24	54
MUT:USH2A:Val5145Ile	PROT:O75445	USH2A	V	5145	I	V5145I	Benign	0	3	24	85
MUT:USP18:Arg119Gln	PROT:Q9UMW8	USP18	R	119	Q	R119Q	Likely benign	0	1	4	6
MUT:USP18:Arg289Gln	PROT:Q9UMW8	USP18	R	289	Q	R289Q	Likely benign	0	1	4	1
MUT:USP18:Asp33Asn	PROT:Q9UMW8	USP18	D	33	N	D33N	Likely benign	0	1	4	30
MUT:USP18:Val172Met	PROT:Q9UMW8	USP18	V	172	M	V172M	Likely benign	0	1	4	1
MUT:USP18:Val179Leu	PROT:Q9UMW8	USP18	V	179	L	V179L	Likely benign	0	1	4	6
MUT:USP45:Ala14Thr	PROT:Q70EL2	USP45	A	14	T	A14T	Likely benign	0	1	7	15
MUT:USP45:Arg312Gln	PROT:Q70EL2	USP45	R	312	Q	R312Q	Pathogenic	1	1	7	41
MUT:USP45:Arg521Thr	PROT:Q70EL2	USP45	R	521	T	R521T	Benign	0	1	7	5
MUT:USP45:Asn778Ser	PROT:Q70EL2	USP45	N	778	S	N778S	Benign	0	1	7	179
MUT:USP45:Lys650Asn	PROT:Q70EL2	USP45	K	650	N	K650N	Likely benign	0	1	7	51
MUT:USP45:Lys67Glu	PROT:Q70EL2	USP45	K	67	E	K67E	Benign	0	1	7	38
MUT:USP45:Ser523Gly	PROT:Q70EL2	USP45	S	523	G	S523G	Likely pathogenic	1	1	7	3
MUT:USP45:Ser60Ala	PROT:Q70EL2	USP45	S	60	A	S60A	Likely pathogenic	1	1	7	31
MUT:USP45:Val243Met	PROT:Q70EL2	USP45	V	243	M	V243M	Likely pathogenic	1	1	7	28
MUT:USP47:Ile712Val	PROT:Q96K76	USP47	I	712	V	I712V	Likely benign	0	1	30	8
MUT:USP53:Ala46Ser	PROT:Q70EK8	USP53	A	46	S	A46S	Likely pathogenic	1	1	3	24
MUT:USP53:Arg737Cys	PROT:Q70EK8	USP53	R	737	C	R737C	Likely benign	0	1	3	227
MUT:USP53:Arg902Gln	PROT:Q70EK8	USP53	R	902	Q	R902Q	Likely benign	0	1	3	392
MUT:USP53:Arg99Ser	PROT:Q70EK8	USP53	R	99	S	R99S	Pathogenic	1	2	3	4
MUT:USP53:Glu359Asp	PROT:Q70EK8	USP53	E	359	D	E359D	Likely benign	0	1	3	151
MUT:USP53:Gly293Val	PROT:Q70EK8	USP53	G	293	V	G293V	Likely pathogenic	1	1	3	198
MUT:USP53:Gly424Ala	PROT:Q70EK8	USP53	G	424	A	G424A	Likely benign	0	1	3	86
MUT:USP53:His132Arg	PROT:Q70EK8	USP53	H	132	R	H132R	Likely pathogenic	1	1	3	37
MUT:USP53:His747Asn	PROT:Q70EK8	USP53	H	747	N	H747N	Likely benign	0	1	3	237
MUT:USP53:Ile811Val	PROT:Q70EK8	USP53	I	811	V	I811V	Likely benign	0	1	3	301
MUT:USP53:Met977Val	PROT:Q70EK8	USP53	M	977	V	M977V	Likely benign	0	1	3	467
MUT:USP53:Pro242Leu	PROT:Q70EK8	USP53	P	242	L	P242L	Pathogenic	1	1	3	147
MUT:USP7:Arg301Gly	PROT:Q93009	USP7	R	301	G	R301G	Likely pathogenic	1	1	34	21
MUT:USP7:Asp295Gly	PROT:Q93009	USP7	D	295	G	D295G	Likely pathogenic	1	1	34	27
MUT:USP7:Asp585Val	PROT:Q93009	USP7	D	585	V	D585V	Likely pathogenic	1	1	34	62
MUT:USP7:Gln4His	PROT:Q93009	USP7	Q	4	H	Q4H	Likely benign	0	1	34	14
MUT:USP7:Glu345Lys	PROT:Q93009	USP7	E	345	K	E345K	Likely pathogenic	1	1	34	10
MUT:USP7:Gly392Ala	PROT:Q93009	USP7	G	392	A	G392A	Likely pathogenic	1	1	34	1
MUT:USP7:Leu238Arg	PROT:Q93009	USP7	L	238	R	L238R	Likely pathogenic	1	1	34	2
MUT:USP7:Leu279Val	PROT:Q93009	USP7	L	279	V	L279V	Likely pathogenic	1	1	34	25
MUT:USP7:Leu433Ile	PROT:Q93009	USP7	L	433	I	L433I	Likely pathogenic	1	1	34	6
MUT:USP7:Lys420Glu	PROT:Q93009	USP7	K	420	E	K420E	Likely pathogenic	1	1	34	19
MUT:USP7:Lys595Arg	PROT:Q93009	USP7	K	595	R	K595R	Likely benign	0	1	34	72
MUT:USP7:Lys695Arg	PROT:Q93009	USP7	K	695	R	K695R	Likely benign	0	1	34	0
MUT:USP7:Lys938Gln	PROT:Q93009	USP7	K	938	Q	K938Q	Benign/Likely benign	0	1	34	4
MUT:USP7:Met225Ile	PROT:Q93009	USP7	M	225	I	M225I	Pathogenic	1	1	34	15
MUT:USP7:Phe118Leu	PROT:Q93009	USP7	F	118	L	F118L	Likely pathogenic	1	1	34	20
MUT:USP7:Thr128Met	PROT:Q93009	USP7	T	128	M	T128M	Likely benign	0	1	34	20
MUT:USP7:Thr969Ser	PROT:Q93009	USP7	T	969	S	T969S	Likely benign	0	1	34	6
MUT:USP7:Tyr331Cys	PROT:Q93009	USP7	Y	331	C	Y331C	Likely pathogenic	1	1	34	4
MUT:USP7:Tyr564Ser	PROT:Q93009	USP7	Y	564	S	Y564S	Likely pathogenic	1	1	34	41
MUT:USP8:Ala348Thr	PROT:P40818	USP8	A	348	T	A348T	Benign	0	1	26	3
MUT:USP8:Arg483Gln	PROT:P40818	USP8	R	483	Q	R483Q	Benign	0	2	26	83
MUT:USP8:Arg763Trp	PROT:P40818	USP8	R	763	W	R763W	Benign	0	1	26	26
MUT:USP8:Asn764Lys	PROT:P40818	USP8	N	764	K	N764K	Benign	0	1	26	27
MUT:USP8:Asp212Asn	PROT:P40818	USP8	D	212	N	D212N	Likely benign	0	2	26	59
MUT:USP8:Asp443Gly	PROT:P40818	USP8	D	443	G	D443G	Benign	0	1	26	43
MUT:USP8:His559Tyr	PROT:P40818	USP8	H	559	Y	H559Y	Benign	0	2	26	18
MUT:USP8:Leu268Ile	PROT:P40818	USP8	L	268	I	L268I	Benign	0	1	26	83
MUT:USP8:Lys195Glu	PROT:P40818	USP8	K	195	E	K195E	Benign	0	1	26	42
MUT:USP8:Lys388Glu	PROT:P40818	USP8	K	388	E	K388E	Benign	0	1	26	1
MUT:USP8:Lys506Gln	PROT:P40818	USP8	K	506	Q	K506Q	Benign	0	1	26	71
MUT:USP8:Pro383Leu	PROT:P40818	USP8	P	383	L	P383L	Likely benign	0	1	26	4
MUT:USP8:Pro720Arg	PROT:P40818	USP8	P	720	R	P720R	Pathogenic	1	1	26	1
MUT:USP8:Ser718Cys	PROT:P40818	USP8	S	718	C	S718C	Pathogenic	1	1	26	0
MUT:USP8:Ser718Pro	PROT:P40818	USP8	S	718	P	S718P	Pathogenic	1	1	26	0
MUT:USP8:Thr351Met	PROT:P40818	USP8	T	351	M	T351M	Benign	0	1	26	0
MUT:USP8:Thr739Ala	PROT:P40818	USP8	T	739	A	T739A	Benign	0	1	26	2
MUT:USP9X:Ala1241Val	PROT:Q93008	USP9X	A	1241	V	A1241V	Likely benign	0	1	1	1299
MUT:USP9X:Ala1302Val	PROT:Q93008	USP9X	A	1302	V	A1302V	Likely pathogenic	1	1	1	1238
MUT:USP9X:Ala504Val	PROT:Q93008	USP9X	A	504	V	A504V	Likely pathogenic	1	1	1	2036
MUT:USP9X:Arg2085His	PROT:Q93008	USP9X	R	2085	H	R2085H	Pathogenic/Likely pathogenic	1	1	1	455
MUT:USP9X:Asn1480Ser	PROT:Q93008	USP9X	N	1480	S	N1480S	Likely benign	0	1	1	1060
MUT:USP9X:Asn1607Ser	PROT:Q93008	USP9X	N	1607	S	N1607S	Likely benign	0	1	1	933
MUT:USP9X:Asn2295Ser	PROT:Q93008	USP9X	N	2295	S	N2295S	Likely benign	0	1	1	245
MUT:USP9X:Asn232Ser	PROT:Q93008	USP9X	N	232	S	N232S	Likely benign	0	1	1	2308
MUT:USP9X:Asn999Ser	PROT:Q93008	USP9X	N	999	S	N999S	Benign/Likely benign	0	1	1	1541
MUT:USP9X:Asp62Val	PROT:Q93008	USP9X	D	62	V	D62V	Likely benign	0	1	1	2478
MUT:USP9X:Cys1237Tyr	PROT:Q93008	USP9X	C	1237	Y	C1237Y	Likely benign	0	1	1	1303
MUT:USP9X:Cys1733Tyr	PROT:Q93008	USP9X	C	1733	Y	C1733Y	Likely pathogenic	1	1	1	807
MUT:USP9X:Gln1848Glu	PROT:Q93008	USP9X	Q	1848	E	Q1848E	Benign	0	1	1	692
MUT:USP9X:Gln2145Leu	PROT:Q93008	USP9X	Q	2145	L	Q2145L	Likely benign	0	1	1	395
MUT:USP9X:Gln640His	PROT:Q93008	USP9X	Q	640	H	Q640H	Benign	0	1	1	1900
MUT:USP9X:Glu1764Lys	PROT:Q93008	USP9X	E	1764	K	E1764K	Likely pathogenic	1	1	1	776
MUT:USP9X:His1729Arg	PROT:Q93008	USP9X	H	1729	R	H1729R	Likely pathogenic	1	2	1	811
MUT:USP9X:Ile1354Phe	PROT:Q93008	USP9X	I	1354	F	I1354F	Likely benign	0	1	1	1186
MUT:USP9X:Ile1786Thr	PROT:Q93008	USP9X	I	1786	T	I1786T	Likely pathogenic	1	1	1	754
MUT:USP9X:Ile1974Val	PROT:Q93008	USP9X	I	1974	V	I1974V	Benign/Likely benign	0	2	1	566
MUT:USP9X:Ile445Val	PROT:Q93008	USP9X	I	445	V	I445V	Likely pathogenic	1	1	1	2095
MUT:USP9X:Leu1539Ile	PROT:Q93008	USP9X	L	1539	I	L1539I	Likely benign	0	1	1	1001
MUT:USP9X:Leu2093His	PROT:Q93008	USP9X	L	2093	H	L2093H	Pathogenic	1	1	1	447
MUT:USP9X:Leu2104Arg	PROT:Q93008	USP9X	L	2104	R	L2104R	Likely pathogenic	1	1	1	436
MUT:USP9X:Leu343Ser	PROT:Q93008	USP9X	L	343	S	L343S	Likely pathogenic	1	1	1	2197
MUT:USP9X:Lys1266Thr	PROT:Q93008	USP9X	K	1266	T	K1266T	Likely benign	0	1	1	1274
MUT:USP9X:Lys2014Arg	PROT:Q93008	USP9X	K	2014	R	K2014R	Likely benign	0	1	1	526
MUT:USP9X:Pro1790Leu	PROT:Q93008	USP9X	P	1790	L	P1790L	Likely pathogenic	1	1	1	750
MUT:USP9X:Pro180Leu	PROT:Q93008	USP9X	P	180	L	P180L	Likely pathogenic	1	1	1	2360
MUT:USP9X:Pro26His	PROT:Q93008	USP9X	P	26	H	P26H	Likely benign	0	1	1	2514
MUT:USP9X:Ser199Gly	PROT:Q93008	USP9X	S	199	G	S199G	Benign/Likely benign	0	2	1	2341
MUT:USP9X:Thr1975Ser	PROT:Q93008	USP9X	T	1975	S	T1975S	Benign/Likely benign	0	1	1	565
MUT:USP9X:Tyr2327Phe	PROT:Q93008	USP9X	Y	2327	F	Y2327F	Likely benign	0	1	1	213
MUT:USP9X:Val2275Met	PROT:Q93008	USP9X	V	2275	M	V2275M	Likely benign	0	1	1	265
MUT:USP9Y:Ser462Cys	PROT:O00507	USP9Y	S	462	C	S462C	Likely benign	0	1	6	132
MUT:UTP4:Arg438His	PROT:Q969X6	UTP4	R	438	H	R438H	Benign/Likely benign	0	1	5	109
MUT:UTP4:Arg636Cys	PROT:Q969X6	UTP4	R	636	C	R636C	Benign	0	13	5	19
MUT:UTP4:Arg636His	PROT:Q969X6	UTP4	R	636	H	R636H	Likely benign	0	1	5	19
MUT:UTP4:Pro155His	PROT:Q969X6	UTP4	P	155	H	P155H	Likely benign	0	1	5	126
MUT:UTP4:Val179Phe	PROT:Q969X6	UTP4	V	179	F	V179F	Likely benign	0	1	5	102
MUT:UTP4:Val212Ala	PROT:Q969X6	UTP4	V	212	A	V212A	Benign/Likely benign	0	1	5	69
MUT:VAMP2:Glu78Ala	PROT:P63027	VAMP2	E	78	A	E78A	Pathogenic	1	1	6	1
MUT:VAMP2:Phe77Ser	PROT:P63027	VAMP2	F	77	S	F77S	Pathogenic	1	1	6	2
MUT:VAMP2:Ser28Gly	PROT:P63027	VAMP2	S	28	G	S28G	Likely benign	0	3	6	26
MUT:VAMP2:Ser75Pro	PROT:P63027	VAMP2	S	75	P	S75P	Pathogenic	1	1	6	0
MUT:VAMP2:Val50Met	PROT:P63027	VAMP2	V	50	M	V50M	Likely pathogenic	1	1	6	25
MUT:VANGL1:Ala116Thr	PROT:Q8TAA9	VANGL1	A	116	T	A116T	Benign	0	2	17	28
MUT:VANGL1:Arg173His	PROT:Q8TAA9	VANGL1	R	173	H	R173H	Benign	0	1	17	85
MUT:VANGL1:Arg274Gln	PROT:Q8TAA9	VANGL1	R	274	Q	R274Q	Likely pathogenic	1	1	17	36
MUT:VANGL1:Gln376Arg	PROT:Q8TAA9	VANGL1	Q	376	R	Q376R	Benign/Likely benign	0	2	17	31
MUT:VANGL1:Glu347Ala	PROT:Q8TAA9	VANGL1	E	347	A	E347A	Benign	0	2	17	2
MUT:VANGL1:Gly434Ser	PROT:Q8TAA9	VANGL1	G	434	S	G434S	Likely benign	0	1	17	21
MUT:VANGL1:Lys108Arg	PROT:Q8TAA9	VANGL1	K	108	R	K108R	Benign/Likely benign	0	2	17	20
MUT:VANGL1:Ser83Leu	PROT:Q8TAA9	VANGL1	S	83	L	S83L	Benign	0	1	17	0
MUT:VAPB:Asp130Glu	PROT:O95292	VAPB	D	130	E	D130E	Benign/Likely benign	0	2	21	1
MUT:VAPB:Met170Ile	PROT:O95292	VAPB	M	170	I	M170I	Benign/Likely benign	0	3	21	6
MUT:VAPB:Met93Thr	PROT:O95292	VAPB	M	93	T	M93T	Likely benign	0	1	21	38
MUT:VAPB:Pro56Ser	PROT:O95292	VAPB	P	56	S	P56S	Pathogenic	1	2	21	9
MUT:VAPB:Thr46Ile	PROT:O95292	VAPB	T	46	I	T46I	Pathogenic	1	1	21	1
MUT:VCL:Ala413Thr	PROT:P18206	VCL	A	413	T	A413T	Likely benign	0	2	97	13
MUT:VCL:Ala934Val	PROT:P18206	VCL	A	934	V	A934V	Benign/Likely benign	0	2	97	38
MUT:VCL:Asp511Tyr	PROT:P18206	VCL	D	511	Y	D511Y	Likely pathogenic	1	1	97	3
MUT:VCL:Met74Val	PROT:P18206	VCL	M	74	V	M74V	Likely benign	0	1	97	3
MUT:VCL:Pro943Ala	PROT:P18206	VCL	P	943	A	P943A	Likely benign	0	2	97	29
MUT:VCX3B:Glu239Lys	PROT:Q9H321	VCX3B	E	239	K	E239K	Likely benign	0	1	1	212
MUT:VHL:Ala149Pro	PROT:P40337	VHL	A	149	P	A149P	Pathogenic	1	1	18	10
MUT:VHL:Ala149Ser	PROT:P40337	VHL	A	149	S	A149S	Pathogenic	1	2	18	10
MUT:VHL:Ala149Thr	PROT:P40337	VHL	A	149	T	A149T	Pathogenic	1	2	18	10
MUT:VHL:Arg107Gly	PROT:P40337	VHL	R	107	G	R107G	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Arg107His	PROT:P40337	VHL	R	107	H	R107H	Pathogenic	1	3	18	2
MUT:VHL:Arg107Pro	PROT:P40337	VHL	R	107	P	R107P	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Arg120Gly	PROT:P40337	VHL	R	120	G	R120G	Likely pathogenic	1	1	18	8
MUT:VHL:Arg120Lys	PROT:P40337	VHL	R	120	K	R120K	Likely pathogenic	1	1	18	8
MUT:VHL:Arg161Gln	PROT:P40337	VHL	R	161	Q	R161Q	Pathogenic	1	4	18	2
MUT:VHL:Arg161Gly	PROT:P40337	VHL	R	161	G	R161G	Pathogenic	1	1	18	2
MUT:VHL:Arg161Pro	PROT:P40337	VHL	R	161	P	R161P	Pathogenic	1	1	18	2
MUT:VHL:Arg167Gln	PROT:P40337	VHL	R	167	Q	R167Q	Pathogenic	1	4	18	1
MUT:VHL:Arg167Gly	PROT:P40337	VHL	R	167	G	R167G	Pathogenic	1	2	18	1
MUT:VHL:Arg167Pro	PROT:P40337	VHL	R	167	P	R167P	Pathogenic/Likely pathogenic	1	2	18	1
MUT:VHL:Arg167Trp	PROT:P40337	VHL	R	167	W	R167W	Pathogenic/Likely pathogenic	1	4	18	1
MUT:VHL:Arg64Pro	PROT:P40337	VHL	R	64	P	R64P	Pathogenic	1	3	18	4
MUT:VHL:Arg69His	PROT:P40337	VHL	R	69	H	R69H	Likely benign	0	1	18	1
MUT:VHL:Arg79Pro	PROT:P40337	VHL	R	79	P	R79P	Likely pathogenic	1	1	18	1
MUT:VHL:Arg82Gly	PROT:P40337	VHL	R	82	G	R82G	Pathogenic	1	1	18	2
MUT:VHL:Arg82Leu	PROT:P40337	VHL	R	82	L	R82L	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Arg82Pro	PROT:P40337	VHL	R	82	P	R82P	Pathogenic	1	1	18	2
MUT:VHL:Asn131Lys	PROT:P40337	VHL	N	131	K	N131K	Pathogenic/Likely pathogenic	1	2	18	19
MUT:VHL:Asn131Ser	PROT:P40337	VHL	N	131	S	N131S	Pathogenic/Likely pathogenic	1	1	18	19
MUT:VHL:Asn131Tyr	PROT:P40337	VHL	N	131	Y	N131Y	Likely pathogenic	1	1	18	19
MUT:VHL:Asn141Tyr	PROT:P40337	VHL	N	141	Y	N141Y	Likely benign	0	1	18	18
MUT:VHL:Asn78Asp	PROT:P40337	VHL	N	78	D	N78D	Pathogenic/Likely pathogenic	1	1	18	2
MUT:VHL:Asn78His	PROT:P40337	VHL	N	78	H	N78H	Pathogenic	1	1	18	2
MUT:VHL:Asn78Ile	PROT:P40337	VHL	N	78	I	N78I	Likely pathogenic	1	1	18	2
MUT:VHL:Asn78Ser	PROT:P40337	VHL	N	78	S	N78S	Pathogenic	1	2	18	2
MUT:VHL:Asn78Thr	PROT:P40337	VHL	N	78	T	N78T	Pathogenic	1	1	18	2
MUT:VHL:Asn78Tyr	PROT:P40337	VHL	N	78	Y	N78Y	Likely pathogenic	1	2	18	2
MUT:VHL:Asn90Ile	PROT:P40337	VHL	N	90	I	N90I	Likely pathogenic	1	2	18	10
MUT:VHL:Asp121Gly	PROT:P40337	VHL	D	121	G	D121G	Pathogenic/Likely pathogenic	1	2	18	9
MUT:VHL:Asp126Tyr	PROT:P40337	VHL	D	126	Y	D126Y	Likely pathogenic	1	1	18	14
MUT:VHL:Asp197Asn	PROT:P40337	VHL	D	197	N	D197N	Likely pathogenic	1	1	18	1
MUT:VHL:Cys162Arg	PROT:P40337	VHL	C	162	R	C162R	Pathogenic	1	1	18	3
MUT:VHL:Cys162Phe	PROT:P40337	VHL	C	162	F	C162F	Pathogenic	1	1	18	3
MUT:VHL:Cys162Trp	PROT:P40337	VHL	C	162	W	C162W	Pathogenic/Likely pathogenic	1	2	18	3
MUT:VHL:Cys162Tyr	PROT:P40337	VHL	C	162	Y	C162Y	Pathogenic/Likely pathogenic	1	3	18	3
MUT:VHL:Gln132Pro	PROT:P40337	VHL	Q	132	P	Q132P	Pathogenic/Likely pathogenic	1	2	18	20
MUT:VHL:Gln164Arg	PROT:P40337	VHL	Q	164	R	Q164R	Pathogenic	1	2	18	4
MUT:VHL:Gln164His	PROT:P40337	VHL	Q	164	H	Q164H	Pathogenic/Likely pathogenic	1	2	18	4
MUT:VHL:Glu160Val	PROT:P40337	VHL	E	160	V	E160V	Likely pathogenic	1	1	18	1
MUT:VHL:Glu173Gln	PROT:P40337	VHL	E	173	Q	E173Q	Likely benign	0	1	18	2
MUT:VHL:Glu204Asp	PROT:P40337	VHL	E	204	D	E204D	Likely benign	0	1	18	2
MUT:VHL:Glu46Lys	PROT:P40337	VHL	E	46	K	E46K	Benign	0	1	18	3
MUT:VHL:Glu52Lys	PROT:P40337	VHL	E	52	K	E52K	Benign	0	5	18	9
MUT:VHL:Glu53Lys	PROT:P40337	VHL	E	53	K	E53K	Benign	0	1	18	10
MUT:VHL:Glu6Lys	PROT:P40337	VHL	E	6	K	E6K	Likely benign	0	1	18	27
MUT:VHL:Glu70Lys	PROT:P40337	VHL	E	70	K	E70K	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Gly114Arg	PROT:P40337	VHL	G	114	R	G114R	Pathogenic	1	2	18	2
MUT:VHL:Gly114Ser	PROT:P40337	VHL	G	114	S	G114S	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Gly30Glu	PROT:P40337	VHL	G	30	E	G30E	Likely benign	0	3	18	3
MUT:VHL:Gly93Arg	PROT:P40337	VHL	G	93	R	G93R	Pathogenic/Likely pathogenic	1	2	18	7
MUT:VHL:Gly93Asp	PROT:P40337	VHL	G	93	D	G93D	Pathogenic/Likely pathogenic	1	1	18	7
MUT:VHL:Gly93Cys	PROT:P40337	VHL	G	93	C	G93C	Pathogenic	1	1	18	7
MUT:VHL:Gly93Ser	PROT:P40337	VHL	G	93	S	G93S	Pathogenic	1	4	18	7
MUT:VHL:Gly93Val	PROT:P40337	VHL	G	93	V	G93V	Pathogenic/Likely pathogenic	1	2	18	7
MUT:VHL:His115Arg	PROT:P40337	VHL	H	115	R	H115R	Pathogenic	1	1	18	3
MUT:VHL:His115Pro	PROT:P40337	VHL	H	115	P	H115P	Likely pathogenic	1	1	18	3
MUT:VHL:His115Tyr	PROT:P40337	VHL	H	115	Y	H115Y	Pathogenic	1	1	18	3
MUT:VHL:His125Asn	PROT:P40337	VHL	H	125	N	H125N	Benign	0	1	18	13
MUT:VHL:His125Gln	PROT:P40337	VHL	H	125	Q	H125Q	Benign	0	1	18	13
MUT:VHL:His125Pro	PROT:P40337	VHL	H	125	P	H125P	Likely pathogenic	1	2	18	13
MUT:VHL:His191Asp	PROT:P40337	VHL	H	191	D	H191D	Likely pathogenic	1	1	18	5
MUT:VHL:Ile109Thr	PROT:P40337	VHL	I	109	T	I109T	Likely benign	0	1	18	2
MUT:VHL:Ile151Leu	PROT:P40337	VHL	I	151	L	I151L	Likely pathogenic	1	1	18	8
MUT:VHL:Ile151Ser	PROT:P40337	VHL	I	151	S	I151S	Pathogenic	1	1	18	8
MUT:VHL:Ile151Thr	PROT:P40337	VHL	I	151	T	I151T	Pathogenic	1	2	18	8
MUT:VHL:Ile75Ser	PROT:P40337	VHL	I	75	S	I75S	Pathogenic/Likely pathogenic	1	2	18	3
MUT:VHL:Leu101Arg	PROT:P40337	VHL	L	101	R	L101R	Likely pathogenic	1	2	18	1
MUT:VHL:Leu101Gln	PROT:P40337	VHL	L	101	Q	L101Q	Likely pathogenic	1	1	18	1
MUT:VHL:Leu101Pro	PROT:P40337	VHL	L	101	P	L101P	Likely pathogenic	1	1	18	1
MUT:VHL:Leu116Ile	PROT:P40337	VHL	L	116	I	L116I	Likely benign	0	1	18	4
MUT:VHL:Leu118Arg	PROT:P40337	VHL	L	118	R	L118R	Pathogenic	1	2	18	6
MUT:VHL:Leu118Pro	PROT:P40337	VHL	L	118	P	L118P	Pathogenic	1	2	18	6
MUT:VHL:Leu118Val	PROT:P40337	VHL	L	118	V	L118V	Likely benign	0	1	18	6
MUT:VHL:Leu128Phe	PROT:P40337	VHL	L	128	F	L128F	Likely pathogenic	1	1	18	16
MUT:VHL:Leu128Pro	PROT:P40337	VHL	L	128	P	L128P	Pathogenic/Likely pathogenic	1	2	18	16
MUT:VHL:Leu135Phe	PROT:P40337	VHL	L	135	F	L135F	Pathogenic	1	1	18	23
MUT:VHL:Leu153Gln	PROT:P40337	VHL	L	153	Q	L153Q	Pathogenic/Likely pathogenic	1	2	18	6
MUT:VHL:Leu158Arg	PROT:P40337	VHL	L	158	R	L158R	Pathogenic	1	1	18	1
MUT:VHL:Leu158Pro	PROT:P40337	VHL	L	158	P	L158P	Pathogenic	1	2	18	1
MUT:VHL:Leu158Val	PROT:P40337	VHL	L	158	V	L158V	Pathogenic	1	1	18	1
MUT:VHL:Leu163Arg	PROT:P40337	VHL	L	163	R	L163R	Pathogenic	1	1	18	4
MUT:VHL:Leu163Phe	PROT:P40337	VHL	L	163	F	L163F	Pathogenic/Likely pathogenic	1	2	18	4
MUT:VHL:Leu163Pro	PROT:P40337	VHL	L	163	P	L163P	Likely pathogenic	1	3	18	4
MUT:VHL:Leu178Arg	PROT:P40337	VHL	L	178	R	L178R	Pathogenic	1	2	18	3
MUT:VHL:Leu178Gln	PROT:P40337	VHL	L	178	Q	L178Q	Pathogenic	1	1	18	3
MUT:VHL:Leu178Pro	PROT:P40337	VHL	L	178	P	L178P	Pathogenic/Likely pathogenic	1	2	18	3
MUT:VHL:Leu184Pro	PROT:P40337	VHL	L	184	P	L184P	Pathogenic/Likely pathogenic	1	1	18	1
MUT:VHL:Leu188Gln	PROT:P40337	VHL	L	188	Q	L188Q	Likely pathogenic	1	1	18	3
MUT:VHL:Leu188Pro	PROT:P40337	VHL	L	188	P	L188P	Pathogenic/Likely pathogenic	1	1	18	3
MUT:VHL:Leu198Gln	PROT:P40337	VHL	L	198	Q	L198Q	Likely pathogenic	1	1	18	2
MUT:VHL:Leu198Pro	PROT:P40337	VHL	L	198	P	L198P	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Leu201Pro	PROT:P40337	VHL	L	201	P	L201P	Likely pathogenic	1	1	18	1
MUT:VHL:Leu63Arg	PROT:P40337	VHL	L	63	R	L63R	Likely pathogenic	1	2	18	5
MUT:VHL:Leu89Pro	PROT:P40337	VHL	L	89	P	L89P	Pathogenic/Likely pathogenic	1	2	18	9
MUT:VHL:Lys159Glu	PROT:P40337	VHL	K	159	E	K159E	Likely pathogenic	1	2	18	0
MUT:VHL:Met211Arg	PROT:P40337	VHL	M	211	R	M211R	Likely benign	0	1	18	9
MUT:VHL:Phe119Leu	PROT:P40337	VHL	F	119	L	F119L	Pathogenic	1	2	18	7
MUT:VHL:Phe136Ser	PROT:P40337	VHL	F	136	S	F136S	Pathogenic/Likely pathogenic	1	1	18	23
MUT:VHL:Phe136Val	PROT:P40337	VHL	F	136	V	F136V	Pathogenic/Likely pathogenic	1	1	18	23
MUT:VHL:Phe76Ile	PROT:P40337	VHL	F	76	I	F76I	Likely pathogenic	1	1	18	4
MUT:VHL:Phe91Val	PROT:P40337	VHL	F	91	V	F91V	Likely benign	0	1	18	9
MUT:VHL:Pro154Leu	PROT:P40337	VHL	P	154	L	P154L	Pathogenic	1	1	18	5
MUT:VHL:Pro154Ser	PROT:P40337	VHL	P	154	S	P154S	Pathogenic/Likely pathogenic	1	2	18	5
MUT:VHL:Pro25Leu	PROT:P40337	VHL	P	25	L	P25L	Benign	0	3	18	8
MUT:VHL:Pro40Leu	PROT:P40337	VHL	P	40	L	P40L	Benign	0	3	18	2
MUT:VHL:Pro81Leu	PROT:P40337	VHL	P	81	L	P81L	Pathogenic/Likely pathogenic	1	4	18	1
MUT:VHL:Pro81Ser	PROT:P40337	VHL	P	81	S	P81S	Benign	0	5	18	1
MUT:VHL:Pro86Ala	PROT:P40337	VHL	P	86	A	P86A	Pathogenic/Likely pathogenic	1	2	18	6
MUT:VHL:Pro86Arg	PROT:P40337	VHL	P	86	R	P86R	Pathogenic/Likely pathogenic	1	2	18	6
MUT:VHL:Pro86Leu	PROT:P40337	VHL	P	86	L	P86L	Pathogenic	1	2	18	6
MUT:VHL:Pro86Ser	PROT:P40337	VHL	P	86	S	P86S	Pathogenic/Likely pathogenic	1	3	18	6
MUT:VHL:Ser111Arg	PROT:P40337	VHL	S	111	R	S111R	Pathogenic	1	2	18	0
MUT:VHL:Ser111Asn	PROT:P40337	VHL	S	111	N	S111N	Pathogenic	1	2	18	0
MUT:VHL:Ser111Gly	PROT:P40337	VHL	S	111	G	S111G	Pathogenic	1	1	18	0
MUT:VHL:Ser65Ala	PROT:P40337	VHL	S	65	A	S65A	Likely pathogenic	1	2	18	3
MUT:VHL:Ser65Leu	PROT:P40337	VHL	S	65	L	S65L	Pathogenic	1	1	18	3
MUT:VHL:Ser65Pro	PROT:P40337	VHL	S	65	P	S65P	Pathogenic	1	1	18	3
MUT:VHL:Ser65Trp	PROT:P40337	VHL	S	65	W	S65W	Pathogenic	1	2	18	3
MUT:VHL:Ser72Pro	PROT:P40337	VHL	S	72	P	S72P	Pathogenic/Likely pathogenic	1	2	18	0
MUT:VHL:Ser80Arg	PROT:P40337	VHL	S	80	R	S80R	Pathogenic	1	2	18	0
MUT:VHL:Ser80Gly	PROT:P40337	VHL	S	80	G	S80G	Pathogenic/Likely pathogenic	1	2	18	0
MUT:VHL:Ser80Ile	PROT:P40337	VHL	S	80	I	S80I	Pathogenic/Likely pathogenic	1	2	18	0
MUT:VHL:Thr105Arg	PROT:P40337	VHL	T	105	R	T105R	Likely benign	0	1	18	0
MUT:VHL:Thr105Pro	PROT:P40337	VHL	T	105	P	T105P	Pathogenic	1	1	18	0
MUT:VHL:Thr124Ile	PROT:P40337	VHL	T	124	I	T124I	Pathogenic/Likely pathogenic	1	2	18	12
MUT:VHL:Thr133Pro	PROT:P40337	VHL	T	133	P	T133P	Likely pathogenic	1	1	18	21
MUT:VHL:Thr152Ser	PROT:P40337	VHL	T	152	S	T152S	Likely benign	0	1	18	7
MUT:VHL:Thr157Ala	PROT:P40337	VHL	T	157	A	T157A	Likely benign	0	1	18	2
MUT:VHL:Thr157Ile	PROT:P40337	VHL	T	157	I	T157I	Pathogenic	1	3	18	2
MUT:VHL:Trp117Cys	PROT:P40337	VHL	W	117	C	W117C	Pathogenic	1	2	18	5
MUT:VHL:Trp88Arg	PROT:P40337	VHL	W	88	R	W88R	Pathogenic	1	3	18	8
MUT:VHL:Trp88Cys	PROT:P40337	VHL	W	88	C	W88C	Likely pathogenic	1	2	18	8
MUT:VHL:Trp88Ser	PROT:P40337	VHL	W	88	S	W88S	Pathogenic	1	1	18	8
MUT:VHL:Tyr112Asn	PROT:P40337	VHL	Y	112	N	Y112N	Pathogenic	1	1	18	0
MUT:VHL:Tyr112Cys	PROT:P40337	VHL	Y	112	C	Y112C	Pathogenic/Likely pathogenic	1	2	18	0
MUT:VHL:Tyr112His	PROT:P40337	VHL	Y	112	H	Y112H	Pathogenic/Likely pathogenic	1	3	18	0
MUT:VHL:Tyr112Ser	PROT:P40337	VHL	Y	112	S	Y112S	Pathogenic/Likely pathogenic	1	1	18	0
MUT:VHL:Tyr156Cys	PROT:P40337	VHL	Y	156	C	Y156C	Pathogenic/Likely pathogenic	1	2	18	3
MUT:VHL:Tyr175Cys	PROT:P40337	VHL	Y	175	C	Y175C	Pathogenic/Likely pathogenic	1	2	18	0
MUT:VHL:Tyr98Asn	PROT:P40337	VHL	Y	98	N	Y98N	Pathogenic	1	1	18	2
MUT:VHL:Tyr98Cys	PROT:P40337	VHL	Y	98	C	Y98C	Pathogenic	1	2	18	2
MUT:VHL:Tyr98His	PROT:P40337	VHL	Y	98	H	Y98H	Pathogenic	1	3	18	2
MUT:VHL:Tyr98Ser	PROT:P40337	VHL	Y	98	S	Y98S	Pathogenic/Likely pathogenic	1	3	18	2
MUT:VHL:Val130Leu	PROT:P40337	VHL	V	130	L	V130L	Pathogenic	1	3	18	18
MUT:VHL:Val130Phe	PROT:P40337	VHL	V	130	F	V130F	Pathogenic	1	2	18	18
MUT:VHL:Val155Leu	PROT:P40337	VHL	V	155	L	V155L	Likely pathogenic	1	1	18	4
MUT:VHL:Val155Met	PROT:P40337	VHL	V	155	M	V155M	Pathogenic/Likely pathogenic	1	1	18	4
MUT:VHL:Val166Ala	PROT:P40337	VHL	V	166	A	V166A	Pathogenic/Likely pathogenic	1	2	18	2
MUT:VHL:Val166Asp	PROT:P40337	VHL	V	166	D	V166D	Pathogenic	1	1	18	2
MUT:VHL:Val166Phe	PROT:P40337	VHL	V	166	F	V166F	Pathogenic	1	2	18	2
MUT:VHL:Val170Ala	PROT:P40337	VHL	V	170	A	V170A	Likely pathogenic	1	1	18	1
MUT:VHL:Val170Asp	PROT:P40337	VHL	V	170	D	V170D	Pathogenic/Likely pathogenic	1	2	18	1
MUT:VHL:Val170Leu	PROT:P40337	VHL	V	170	L	V170L	Likely pathogenic	1	1	18	1
MUT:VHL:Val66Ala	PROT:P40337	VHL	V	66	A	V66A	Likely benign	0	1	18	2
MUT:VHL:Val66Glu	PROT:P40337	VHL	V	66	E	V66E	Likely benign	0	1	18	2
MUT:VHL:Val84Glu	PROT:P40337	VHL	V	84	E	V84E	Likely pathogenic	1	1	18	4
MUT:VHL:Val84Leu	PROT:P40337	VHL	V	84	L	V84L	Pathogenic	1	2	18	4
MUT:VHL:Val84Met	PROT:P40337	VHL	V	84	M	V84M	Pathogenic/Likely pathogenic	1	2	18	4
MUT:VIL1:Ala6Thr	PROT:P09327	VIL1	A	6	T	A6T	Likely benign	0	1	11	75
MUT:VIL1:Arg92Trp	PROT:P09327	VIL1	R	92	W	R92W	Benign	0	1	11	11
MUT:VIL1:Gly43Asp	PROT:P09327	VIL1	G	43	D	G43D	Benign	0	1	11	38
MUT:VIPAS39:Ala98Thr	PROT:Q9H9C1	VIPAS39	A	98	T	A98T	Likely benign	0	1	17	5
MUT:VIPAS39:His226Arg	PROT:Q9H9C1	VIPAS39	H	226	R	H226R	Likely pathogenic	1	1	17	49
MUT:VIPAS39:Met1Arg	PROT:Q9H9C1	VIPAS39	M	1	R	M1R	Pathogenic	1	1	17	4
MUT:VIPAS39:Val278Ile	PROT:Q9H9C1	VIPAS39	V	278	I	V278I	Likely benign	0	1	17	3
MUT:VIPAS39:Val46Met	PROT:Q9H9C1	VIPAS39	V	46	M	V46M	Benign/Likely benign	0	1	17	13
MUT:VKORC1:Arg58Gly	PROT:Q9BQB6	VKORC1	R	58	G	R58G	Pathogenic	1	1	1	6
MUT:VKORC1:Arg98Trp	PROT:Q9BQB6	VKORC1	R	98	W	R98W	Likely pathogenic	1	2	1	46
MUT:VKORC1:His68Arg	PROT:Q9BQB6	VKORC1	H	68	R	H68R	Benign	0	1	1	16
MUT:VKORC1:Val118Leu	PROT:Q9BQB6	VKORC1	V	118	L	V118L	Likely benign	0	1	1	66
MUT:VKORC1:Val29Leu	PROT:Q9BQB6	VKORC1	V	29	L	V29L	Pathogenic	1	1	1	23
MUT:VKORC1:Val45Ala	PROT:Q9BQB6	VKORC1	V	45	A	V45A	Pathogenic	1	1	1	7
MUT:VMA12:Ala14Pro	PROT:Q8N511	VMA12	A	14	P	A14P	Pathogenic	1	1	3	10
MUT:VMA12:Ala7Glu	PROT:Q8N511	VMA12	A	7	E	A7E	Likely pathogenic	1	2	3	3
MUT:VMA12:Arg31Pro	PROT:Q8N511	VMA12	R	31	P	R31P	Pathogenic/Likely pathogenic	1	3	3	27
MUT:VMA12:Val158Ile	PROT:Q8N511	VMA12	V	158	I	V158I	Benign	0	12	3	20
MUT:VMA22:Ala180Val	PROT:Q96NT0	VMA22	A	180	V	A180V	Likely benign	0	1	2	70
MUT:VMA22:Ala71Thr	PROT:Q96NT0	VMA22	A	71	T	A71T	Likely benign	0	1	2	27
MUT:VMA22:Leu31Phe	PROT:Q96NT0	VMA22	L	31	F	L31F	Benign	0	1	2	13
MUT:VMA22:Leu31Ser	PROT:Q96NT0	VMA22	L	31	S	L31S	Pathogenic	1	2	2	13
MUT:VPS13D:Ala225Thr	PROT:Q5THJ4	VPS13D	A	225	T	A225T	Benign	0	1	59	34
MUT:VPS13D:Ala4139Val	PROT:Q5THJ4	VPS13D	A	4139	V	A4139V	Likely pathogenic	1	2	59	28
MUT:VPS13D:Ala4210Val	PROT:Q5THJ4	VPS13D	A	4210	V	A4210V	Pathogenic	1	1	59	99
MUT:VPS13D:Ala4248Glu	PROT:Q5THJ4	VPS13D	A	4248	E	A4248E	Likely pathogenic	1	1	59	137
MUT:VPS13D:Arg2432Cys	PROT:Q5THJ4	VPS13D	R	2432	C	R2432C	Benign/Likely benign	0	1	59	2
MUT:VPS13D:Arg2432His	PROT:Q5THJ4	VPS13D	R	2432	H	R2432H	Likely benign	0	1	59	2
MUT:VPS13D:Arg2883Cys	PROT:Q5THJ4	VPS13D	R	2883	C	R2883C	Benign/Likely benign	0	1	59	22
MUT:VPS13D:Arg3101Trp	PROT:Q5THJ4	VPS13D	R	3101	W	R3101W	Likely pathogenic	1	1	59	28
MUT:VPS13D:Arg4132Gln	PROT:Q5THJ4	VPS13D	R	4132	Q	R4132Q	Likely pathogenic	1	1	59	21
MUT:VPS13D:Arg4381Gln	PROT:Q5THJ4	VPS13D	R	4381	Q	R4381Q	Likely benign	0	1	59	270
MUT:VPS13D:Asn326Ser	PROT:Q5THJ4	VPS13D	N	326	S	N326S	Benign/Likely benign	0	1	59	135
MUT:VPS13D:Asn3473Ser	PROT:Q5THJ4	VPS13D	N	3473	S	N3473S	Likely benign	0	1	59	51
MUT:VPS13D:Asn3521Ser	PROT:Q5THJ4	VPS13D	N	3521	S	N3521S	Likely pathogenic	1	1	59	3
MUT:VPS13D:Asp1054Asn	PROT:Q5THJ4	VPS13D	D	1054	N	D1054N	Likely benign	0	1	59	8
MUT:VPS13D:Cys1091Tyr	PROT:Q5THJ4	VPS13D	C	1091	Y	C1091Y	Benign	0	1	59	24
MUT:VPS13D:Gln410Leu	PROT:Q5THJ4	VPS13D	Q	410	L	Q410L	Benign	0	1	59	135
MUT:VPS13D:Glu1611Lys	PROT:Q5THJ4	VPS13D	E	1611	K	E1611K	Benign	0	1	59	8
MUT:VPS13D:Glu372Lys	PROT:Q5THJ4	VPS13D	E	372	K	E372K	Benign/Likely benign	0	2	59	173
MUT:VPS13D:Gly1190Asp	PROT:Q5THJ4	VPS13D	G	1190	D	G1190D	Pathogenic/Likely pathogenic	1	1	59	2
MUT:VPS13D:Gly4177Asp	PROT:Q5THJ4	VPS13D	G	4177	D	G4177D	Likely pathogenic	1	1	59	66
MUT:VPS13D:His2415Tyr	PROT:Q5THJ4	VPS13D	H	2415	Y	H2415Y	Likely benign	0	1	59	19
MUT:VPS13D:Ile205Val	PROT:Q5THJ4	VPS13D	I	205	V	I205V	Benign	0	1	59	14
MUT:VPS13D:Ile2332Val	PROT:Q5THJ4	VPS13D	I	2332	V	I2332V	Likely benign	0	1	59	39
MUT:VPS13D:Ile3081Val	PROT:Q5THJ4	VPS13D	I	3081	V	I3081V	Likely benign	0	1	59	48
MUT:VPS13D:Leu1058Val	PROT:Q5THJ4	VPS13D	L	1058	V	L1058V	Benign	0	1	59	4
MUT:VPS13D:Leu1370Ser	PROT:Q5THJ4	VPS13D	L	1370	S	L1370S	Likely benign	0	1	59	29
MUT:VPS13D:Leu2854Arg	PROT:Q5THJ4	VPS13D	L	2854	R	L2854R	Benign	0	1	59	7
MUT:VPS13D:Lys177Asn	PROT:Q5THJ4	VPS13D	K	177	N	K177N	Benign	0	1	59	14
MUT:VPS13D:Lys313Glu	PROT:Q5THJ4	VPS13D	K	313	E	K313E	Likely benign	0	1	59	122
MUT:VPS13D:Lys3474Met	PROT:Q5THJ4	VPS13D	K	3474	M	K3474M	Benign/Likely benign	0	1	59	50
MUT:VPS13D:Pro1047Leu	PROT:Q5THJ4	VPS13D	P	1047	L	P1047L	Benign	0	1	59	5
MUT:VPS13D:Pro4339Ala	PROT:Q5THJ4	VPS13D	P	4339	A	P4339A	Benign/Likely benign	0	1	59	228
MUT:VPS13D:Ser1778Arg	PROT:Q5THJ4	VPS13D	S	1778	R	S1778R	Benign/Likely benign	0	2	59	13
MUT:VPS13D:Thr1566Ala	PROT:Q5THJ4	VPS13D	T	1566	A	T1566A	Likely benign	0	1	59	32
MUT:VPS13D:Val238Ile	PROT:Q5THJ4	VPS13D	V	238	I	V238I	Benign	0	1	59	47
MUT:VPS13D:Val4081Ala	PROT:Q5THJ4	VPS13D	V	4081	A	V4081A	Likely pathogenic	1	1	59	21
MUT:VPS16:Asn52Lys	PROT:Q9H269	VPS16	N	52	K	N52K	Pathogenic	1	1	13	6
MUT:VPS26C:Ile28Val	PROT:O14972	VPS26C	I	28	V	I28V	Likely benign	0	1	4	60
MUT:VPS33A:Arg498Trp	PROT:Q96AX1	VPS33A	R	498	W	R498W	Likely pathogenic	1	1	16	33
MUT:VPS33A:Ile256Leu	PROT:Q96AX1	VPS33A	I	256	L	I256L	Benign	0	5	16	46
MUT:VPS33A:Ile92Leu	PROT:Q96AX1	VPS33A	I	92	L	I92L	Benign/Likely benign	0	1	16	15
MUT:VPS35L:Ala830Thr	PROT:Q7Z3J2	VPS35L	A	830	T	A830T	Pathogenic	1	1	12	114
MUT:VPS35L:Phe294Ser	PROT:Q7Z3J2	VPS35L	F	294	S	F294S	Likely pathogenic	1	1	12	31
MUT:VPS35L:Pro787Leu	PROT:Q7Z3J2	VPS35L	P	787	L	P787L	Pathogenic	1	1	12	157
MUT:VPS51:Arg490Cys	PROT:Q9UID3	VPS51	R	490	C	R490C	Pathogenic	1	1	8	159
MUT:VWA8:Gly1404Arg	PROT:A3KMH1	VWA8	G	1404	R	G1404R	Likely benign	0	1	3	180
MUT:VWA8:Val1564Leu	PROT:A3KMH1	VWA8	V	1564	L	V1564L	Likely pathogenic	1	1	3	20
MUT:VWF:Ala1105Asp	PROT:P04275	VWF	A	1105	D	A1105D	Likely pathogenic	1	1	8	233
MUT:VWF:Ala1298Val	PROT:P04275	VWF	A	1298	V	A1298V	Likely benign	0	1	8	40
MUT:VWF:Ala1437Thr	PROT:P04275	VWF	A	1437	T	A1437T	Pathogenic/Likely pathogenic	1	4	8	80
MUT:VWF:Ala1716Pro	PROT:P04275	VWF	A	1716	P	A1716P	Likely pathogenic	1	2	8	4
MUT:VWF:Ala2758Val	PROT:P04275	VWF	A	2758	V	A2758V	Likely benign	0	1	8	1038
MUT:VWF:Ala837Asp	PROT:P04275	VWF	A	837	D	A837D	Likely benign	0	1	8	350
MUT:VWF:Arg1205Cys	PROT:P04275	VWF	R	1205	C	R1205C	Pathogenic/Likely pathogenic	1	2	8	133
MUT:VWF:Arg1205His	PROT:P04275	VWF	R	1205	H	R1205H	Pathogenic	1	4	8	133
MUT:VWF:Arg1205Leu	PROT:P04275	VWF	R	1205	L	R1205L	Likely pathogenic	1	1	8	133
MUT:VWF:Arg1306Gln	PROT:P04275	VWF	R	1306	Q	R1306Q	Pathogenic	1	2	8	32
MUT:VWF:Arg1306Leu	PROT:P04275	VWF	R	1306	L	R1306L	Pathogenic	1	2	8	32
MUT:VWF:Arg1306Trp	PROT:P04275	VWF	R	1306	W	R1306W	Pathogenic	1	5	8	32
MUT:VWF:Arg1308Cys	PROT:P04275	VWF	R	1308	C	R1308C	Pathogenic	1	3	8	30
MUT:VWF:Arg1308Leu	PROT:P04275	VWF	R	1308	L	R1308L	Likely pathogenic	1	2	8	30
MUT:VWF:Arg1315Cys	PROT:P04275	VWF	R	1315	C	R1315C	Pathogenic/Likely pathogenic	1	5	8	23
MUT:VWF:Arg1315His	PROT:P04275	VWF	R	1315	H	R1315H	Likely pathogenic	1	4	8	23
MUT:VWF:Arg1315Leu	PROT:P04275	VWF	R	1315	L	R1315L	Likely pathogenic	1	1	8	23
MUT:VWF:Arg1334Trp	PROT:P04275	VWF	R	1334	W	R1334W	Likely pathogenic	1	1	8	4
MUT:VWF:Arg1341Gln	PROT:P04275	VWF	R	1341	Q	R1341Q	Pathogenic	1	4	8	3
MUT:VWF:Arg1341Pro	PROT:P04275	VWF	R	1341	P	R1341P	Likely pathogenic	1	1	8	3
MUT:VWF:Arg1341Trp	PROT:P04275	VWF	R	1341	W	R1341W	Pathogenic	1	4	8	3
MUT:VWF:Arg1374Cys	PROT:P04275	VWF	R	1374	C	R1374C	Pathogenic	1	3	8	29
MUT:VWF:Arg1374His	PROT:P04275	VWF	R	1374	H	R1374H	Pathogenic	1	3	8	29
MUT:VWF:Arg1374Leu	PROT:P04275	VWF	R	1374	L	R1374L	Pathogenic/Likely pathogenic	1	2	8	29
MUT:VWF:Arg1399Cys	PROT:P04275	VWF	R	1399	C	R1399C	Pathogenic	1	4	8	54
MUT:VWF:Arg1583Gln	PROT:P04275	VWF	R	1583	Q	R1583Q	Likely benign	0	2	8	13
MUT:VWF:Arg1597Gln	PROT:P04275	VWF	R	1597	Q	R1597Q	Pathogenic	1	2	8	16
MUT:VWF:Arg1597Trp	PROT:P04275	VWF	R	1597	W	R1597W	Pathogenic	1	3	8	16
MUT:VWF:Arg2185Gln	PROT:P04275	VWF	R	2185	Q	R2185Q	Benign/Likely benign	0	13	8	465
MUT:VWF:Arg2464Cys	PROT:P04275	VWF	R	2464	C	R2464C	Pathogenic/Likely pathogenic	1	3	8	744
MUT:VWF:Arg273Trp	PROT:P04275	VWF	R	273	W	R273W	Pathogenic/Likely pathogenic	1	4	8	212
MUT:VWF:Arg760Cys	PROT:P04275	VWF	R	760	C	R760C	Likely pathogenic	1	3	8	273
MUT:VWF:Arg760His	PROT:P04275	VWF	R	760	H	R760H	Likely pathogenic	1	2	8	273
MUT:VWF:Arg768Gln	PROT:P04275	VWF	R	768	Q	R768Q	Likely pathogenic	1	1	8	281
MUT:VWF:Arg816Gln	PROT:P04275	VWF	R	816	Q	R816Q	Likely pathogenic	1	1	8	329
MUT:VWF:Arg816Trp	PROT:P04275	VWF	R	816	W	R816W	Pathogenic	1	2	8	329
MUT:VWF:Arg854Gln	PROT:P04275	VWF	R	854	Q	R854Q	Pathogenic	1	8	8	367
MUT:VWF:Arg854Trp	PROT:P04275	VWF	R	854	W	R854W	Likely pathogenic	1	2	8	367
MUT:VWF:Asn1231Thr	PROT:P04275	VWF	N	1231	T	N1231T	Likely benign	0	2	8	107
MUT:VWF:Asn1435Ser	PROT:P04275	VWF	N	1435	S	N1435S	Benign	0	4	8	82
MUT:VWF:Asn318Lys	PROT:P04275	VWF	N	318	K	N318K	Benign/Likely benign	0	3	8	167
MUT:VWF:Asn528Ser	PROT:P04275	VWF	N	528	S	N528S	Pathogenic	1	2	8	41
MUT:VWF:Asp141Asn	PROT:P04275	VWF	D	141	N	D141N	Pathogenic/Likely pathogenic	1	2	8	344
MUT:VWF:Asp1472His	PROT:P04275	VWF	D	1472	H	D1472H	Benign	0	5	8	45
MUT:VWF:Asp1513Asn	PROT:P04275	VWF	D	1513	N	D1513N	Likely benign	0	1	8	4
MUT:VWF:Asp879Asn	PROT:P04275	VWF	D	879	N	D879N	Pathogenic	1	1	8	392
MUT:VWF:Asp879Glu	PROT:P04275	VWF	D	879	E	D879E	Likely pathogenic	1	1	8	392
MUT:VWF:Cys1060Arg	PROT:P04275	VWF	C	1060	R	C1060R	Pathogenic	1	1	8	278
MUT:VWF:Cys1060Tyr	PROT:P04275	VWF	C	1060	Y	C1060Y	Pathogenic	1	2	8	278
MUT:VWF:Cys1130Phe	PROT:P04275	VWF	C	1130	F	C1130F	Pathogenic	1	1	8	208
MUT:VWF:Cys1130Tyr	PROT:P04275	VWF	C	1130	Y	C1130Y	Likely pathogenic	1	1	8	208
MUT:VWF:Cys1149Arg	PROT:P04275	VWF	C	1149	R	C1149R	Pathogenic	1	3	8	189
MUT:VWF:Cys1190Arg	PROT:P04275	VWF	C	1190	R	C1190R	Pathogenic	1	4	8	148
MUT:VWF:Cys1190Phe	PROT:P04275	VWF	C	1190	F	C1190F	Likely pathogenic	1	2	8	148
MUT:VWF:Cys1190Ser	PROT:P04275	VWF	C	1190	S	C1190S	Likely pathogenic	1	1	8	148
MUT:VWF:Cys1190Tyr	PROT:P04275	VWF	C	1190	Y	C1190Y	Pathogenic	1	4	8	148
MUT:VWF:Cys1196Tyr	PROT:P04275	VWF	C	1196	Y	C1196Y	Likely pathogenic	1	1	8	142
MUT:VWF:Cys1227Arg	PROT:P04275	VWF	C	1227	R	C1227R	Likely pathogenic	1	1	8	111
MUT:VWF:Cys1272Arg	PROT:P04275	VWF	C	1272	R	C1272R	Pathogenic	1	2	8	66
MUT:VWF:Cys2163Tyr	PROT:P04275	VWF	C	2163	Y	C2163Y	Likely pathogenic	1	1	8	443
MUT:VWF:Cys2184Ser	PROT:P04275	VWF	C	2184	S	C2184S	Likely pathogenic	1	1	8	464
MUT:VWF:Cys2184Tyr	PROT:P04275	VWF	C	2184	Y	C2184Y	Likely pathogenic	1	1	8	464
MUT:VWF:Cys2237Arg	PROT:P04275	VWF	C	2237	R	C2237R	Likely pathogenic	1	1	8	517
MUT:VWF:Cys2248Tyr	PROT:P04275	VWF	C	2248	Y	C2248Y	Pathogenic	1	1	8	528
MUT:VWF:Cys2283Arg	PROT:P04275	VWF	C	2283	R	C2283R	Likely pathogenic	1	1	8	563
MUT:VWF:Cys2291Arg	PROT:P04275	VWF	C	2291	R	C2291R	Likely pathogenic	1	1	8	571
MUT:VWF:Cys2304Tyr	PROT:P04275	VWF	C	2304	Y	C2304Y	Pathogenic/Likely pathogenic	1	2	8	584
MUT:VWF:Cys2325Ser	PROT:P04275	VWF	C	2325	S	C2325S	Likely pathogenic	1	1	8	605
MUT:VWF:Cys2362Phe	PROT:P04275	VWF	C	2362	F	C2362F	Pathogenic	1	1	8	642
MUT:VWF:Cys2451Tyr	PROT:P04275	VWF	C	2451	Y	C2451Y	Likely pathogenic	1	1	8	731
MUT:VWF:Cys2603Trp	PROT:P04275	VWF	C	2603	W	C2603W	Likely pathogenic	1	1	8	883
MUT:VWF:Cys2671Tyr	PROT:P04275	VWF	C	2671	Y	C2671Y	Likely pathogenic	1	1	8	951
MUT:VWF:Cys2739Tyr	PROT:P04275	VWF	C	2739	Y	C2739Y	Likely pathogenic	1	1	8	1019
MUT:VWF:Cys275Arg	PROT:P04275	VWF	C	275	R	C275R	Likely pathogenic	1	1	8	210
MUT:VWF:Cys275Ser	PROT:P04275	VWF	C	275	S	C275S	Likely pathogenic	1	1	8	210
MUT:VWF:Cys2771Arg	PROT:P04275	VWF	C	2771	R	C2771R	Likely pathogenic	1	1	8	1051
MUT:VWF:Cys2773Arg	PROT:P04275	VWF	C	2773	R	C2773R	Pathogenic	1	1	8	1053
MUT:VWF:Cys2773Ser	PROT:P04275	VWF	C	2773	S	C2773S	Pathogenic	1	1	8	1053
MUT:VWF:Cys570Arg	PROT:P04275	VWF	C	570	R	C570R	Likely pathogenic	1	1	8	83
MUT:VWF:Cys652Phe	PROT:P04275	VWF	C	652	F	C652F	Likely pathogenic	1	1	8	165
MUT:VWF:Cys687Tyr	PROT:P04275	VWF	C	687	Y	C687Y	Likely pathogenic	1	1	8	200
MUT:VWF:Cys792Trp	PROT:P04275	VWF	C	792	W	C792W	Likely pathogenic	1	1	8	305
MUT:VWF:Cys804Phe	PROT:P04275	VWF	C	804	F	C804F	Likely pathogenic	1	1	8	317
MUT:VWF:Cys849Phe	PROT:P04275	VWF	C	849	F	C849F	Likely pathogenic	1	1	8	362
MUT:VWF:Cys849Tyr	PROT:P04275	VWF	C	849	Y	C849Y	Likely pathogenic	1	2	8	362
MUT:VWF:Gln1053His	PROT:P04275	VWF	Q	1053	H	Q1053H	Likely pathogenic	1	1	8	285
MUT:VWF:Gln1402Pro	PROT:P04275	VWF	Q	1402	P	Q1402P	Likely pathogenic	1	1	8	57
MUT:VWF:Gln1556Arg	PROT:P04275	VWF	Q	1556	R	Q1556R	Likely pathogenic	1	1	8	14
MUT:VWF:Gln895Arg	PROT:P04275	VWF	Q	895	R	Q895R	Pathogenic	1	1	8	408
MUT:VWF:Glu1078Lys	PROT:P04275	VWF	E	1078	K	E1078K	Likely pathogenic	1	1	8	260
MUT:VWF:Glu1359Lys	PROT:P04275	VWF	E	1359	K	E1359K	Pathogenic/Likely pathogenic	1	1	8	14
MUT:VWF:Gly1180Arg	PROT:P04275	VWF	G	1180	R	G1180R	Pathogenic/Likely pathogenic	1	2	8	158
MUT:VWF:Gly131Ser	PROT:P04275	VWF	G	131	S	G131S	Likely benign	0	2	8	354
MUT:VWF:Gly1324Ala	PROT:P04275	VWF	G	1324	A	G1324A	Pathogenic	1	1	8	14
MUT:VWF:Gly1324Ser	PROT:P04275	VWF	G	1324	S	G1324S	Pathogenic	1	2	8	14
MUT:VWF:Gly1415Asp	PROT:P04275	VWF	G	1415	D	G1415D	Likely pathogenic	1	1	8	70
MUT:VWF:Gly1417Trp	PROT:P04275	VWF	G	1417	W	G1417W	Likely pathogenic	1	1	8	72
MUT:VWF:Gly1573Ser	PROT:P04275	VWF	G	1573	S	G1573S	Likely pathogenic	1	1	8	3
MUT:VWF:Gly1609Arg	PROT:P04275	VWF	G	1609	R	G1609R	Pathogenic	1	3	8	4
MUT:VWF:Gly1629Arg	PROT:P04275	VWF	G	1629	R	G1629R	Pathogenic	1	2	8	16
MUT:VWF:Gly1631Asp	PROT:P04275	VWF	G	1631	D	G1631D	Pathogenic/Likely pathogenic	1	2	8	18
MUT:VWF:Gly2705Arg	PROT:P04275	VWF	G	2705	R	G2705R	Benign	0	4	8	985
MUT:VWF:Gly550Arg	PROT:P04275	VWF	G	550	R	G550R	Pathogenic	1	1	8	63
MUT:VWF:Gly967Asp	PROT:P04275	VWF	G	967	D	G967D	Likely benign	0	4	8	371
MUT:VWF:His1268Asp	PROT:P04275	VWF	H	1268	D	H1268D	Pathogenic	1	4	8	70
MUT:VWF:His484Arg	PROT:P04275	VWF	H	484	R	H484R	Benign	0	4	8	1
MUT:VWF:His817Gln	PROT:P04275	VWF	H	817	Q	H817Q	Benign/Likely benign	0	4	8	330
MUT:VWF:Ile1309Asn	PROT:P04275	VWF	I	1309	N	I1309N	Likely pathogenic	1	2	8	29
MUT:VWF:Ile1309Val	PROT:P04275	VWF	I	1309	V	I1309V	Pathogenic	1	3	8	29
MUT:VWF:Ile1380Val	PROT:P04275	VWF	I	1380	V	I1380V	Benign	0	4	8	35
MUT:VWF:Ile1416Asn	PROT:P04275	VWF	I	1416	N	I1416N	Pathogenic/Likely pathogenic	1	3	8	71
MUT:VWF:Ile1416Thr	PROT:P04275	VWF	I	1416	T	I1416T	Pathogenic/Likely pathogenic	1	3	8	71
MUT:VWF:Ile1425Phe	PROT:P04275	VWF	I	1425	F	I1425F	Likely pathogenic	1	1	8	80
MUT:VWF:Ile1628Asn	PROT:P04275	VWF	I	1628	N	I1628N	Pathogenic	1	1	8	15
MUT:VWF:Ile1628Thr	PROT:P04275	VWF	I	1628	T	I1628T	Pathogenic	1	6	8	15
MUT:VWF:Leu1288Arg	PROT:P04275	VWF	L	1288	R	L1288R	Pathogenic/Likely pathogenic	1	3	8	50
MUT:VWF:Leu1288Pro	PROT:P04275	VWF	L	1288	P	L1288P	Likely pathogenic	1	1	8	50
MUT:VWF:Leu1307Pro	PROT:P04275	VWF	L	1307	P	L1307P	Pathogenic	1	1	8	31
MUT:VWF:Leu1340Pro	PROT:P04275	VWF	L	1340	P	L1340P	Likely pathogenic	1	1	8	2
MUT:VWF:Leu1361Ser	PROT:P04275	VWF	L	1361	S	L1361S	Likely pathogenic	1	2	8	16
MUT:VWF:Leu1460Phe	PROT:P04275	VWF	L	1460	F	L1460F	Likely pathogenic	1	1	8	57
MUT:VWF:Leu150Pro	PROT:P04275	VWF	L	150	P	L150P	Likely pathogenic	1	2	8	335
MUT:VWF:Leu1696Arg	PROT:P04275	VWF	L	1696	R	L1696R	Likely pathogenic	1	2	8	24
MUT:VWF:Leu1774Ser	PROT:P04275	VWF	L	1774	S	L1774S	Likely pathogenic	1	1	8	54
MUT:VWF:Leu536Pro	PROT:P04275	VWF	L	536	P	L536P	Likely pathogenic	1	2	8	49
MUT:VWF:Lys1794Glu	PROT:P04275	VWF	K	1794	E	K1794E	Pathogenic/Likely pathogenic	1	2	8	74
MUT:VWF:Met576Ile	PROT:P04275	VWF	M	576	I	M576I	Likely benign	0	1	8	89
MUT:VWF:Met740Ile	PROT:P04275	VWF	M	740	I	M740I	Benign	0	4	8	253
MUT:VWF:Phe1293Leu	PROT:P04275	VWF	F	1293	L	F1293L	Pathogenic	1	1	8	45
MUT:VWF:Phe1369Leu	PROT:P04275	VWF	F	1369	L	F1369L	Likely pathogenic	1	1	8	24
MUT:VWF:Phe1514Cys	PROT:P04275	VWF	F	1514	C	F1514C	Likely pathogenic	1	1	8	3
MUT:VWF:Phe2561Tyr	PROT:P04275	VWF	F	2561	Y	F2561Y	Benign/Likely benign	0	3	8	841
MUT:VWF:Pro1162Leu	PROT:P04275	VWF	P	1162	L	P1162L	Benign	0	2	8	176
MUT:VWF:Pro1266Leu	PROT:P04275	VWF	P	1266	L	P1266L	Likely benign	0	6	8	72
MUT:VWF:Pro1337Leu	PROT:P04275	VWF	P	1337	L	P1337L	Likely pathogenic	1	3	8	1
MUT:VWF:Pro1725Ser	PROT:P04275	VWF	P	1725	S	P1725S	Likely benign	0	1	8	5
MUT:VWF:Pro1824Arg	PROT:P04275	VWF	P	1824	R	P1824R	Likely pathogenic	1	1	8	104
MUT:VWF:Pro2063Ser	PROT:P04275	VWF	P	2063	S	P2063S	Likely benign	0	4	8	343
MUT:VWF:Pro2527His	PROT:P04275	VWF	P	2527	H	P2527H	Likely pathogenic	1	1	8	807
MUT:VWF:Ser1285Phe	PROT:P04275	VWF	S	1285	F	S1285F	Likely pathogenic	1	1	8	53
MUT:VWF:Ser1285Pro	PROT:P04275	VWF	S	1285	P	S1285P	Pathogenic	1	1	8	53
MUT:VWF:Ser1310Phe	PROT:P04275	VWF	S	1310	F	S1310F	Likely pathogenic	1	2	8	28
MUT:VWF:Ser1310Pro	PROT:P04275	VWF	S	1310	P	S1310P	Likely pathogenic	1	1	8	28
MUT:VWF:Ser1506Leu	PROT:P04275	VWF	S	1506	L	S1506L	Pathogenic/Likely pathogenic	1	3	8	11
MUT:VWF:Ser1543Phe	PROT:P04275	VWF	S	1543	F	S1543F	Pathogenic	1	1	8	26
MUT:VWF:Ser1699Phe	PROT:P04275	VWF	S	1699	F	S1699F	Likely pathogenic	1	2	8	21
MUT:VWF:Ser1783Ala	PROT:P04275	VWF	S	1783	A	S1783A	Likely pathogenic	1	2	8	63
MUT:VWF:Ser2179Phe	PROT:P04275	VWF	S	2179	F	S2179F	Pathogenic/Likely pathogenic	1	2	8	459
MUT:VWF:Ser2479Pro	PROT:P04275	VWF	S	2479	P	S2479P	Likely benign	0	1	8	759
MUT:VWF:Ser979Asn	PROT:P04275	VWF	S	979	N	S979N	Likely pathogenic	1	1	8	359
MUT:VWF:Thr1156Met	PROT:P04275	VWF	T	1156	M	T1156M	Pathogenic/Likely pathogenic	1	4	8	182
MUT:VWF:Thr1381Ala	PROT:P04275	VWF	T	1381	A	T1381A	Benign	0	4	8	36
MUT:VWF:Thr1578Asn	PROT:P04275	VWF	T	1578	N	T1578N	Likely pathogenic	1	2	8	8
MUT:VWF:Thr1801Met	PROT:P04275	VWF	T	1801	M	T1801M	Likely benign	0	1	8	81
MUT:VWF:Thr2081Met	PROT:P04275	VWF	T	2081	M	T2081M	Likely benign	0	1	8	361
MUT:VWF:Thr2666Met	PROT:P04275	VWF	T	2666	M	T2666M	Likely benign	0	5	8	946
MUT:VWF:Thr346Ile	PROT:P04275	VWF	T	346	I	T346I	Likely benign	0	1	8	139
MUT:VWF:Thr487Met	PROT:P04275	VWF	T	487	M	T487M	Likely benign	0	1	8	0
MUT:VWF:Thr789Ala	PROT:P04275	VWF	T	789	A	T789A	Benign	0	4	8	302
MUT:VWF:Thr791Met	PROT:P04275	VWF	T	791	M	T791M	Pathogenic	1	4	8	304
MUT:VWF:Trp1120Ser	PROT:P04275	VWF	W	1120	S	W1120S	Likely pathogenic	1	2	8	218
MUT:VWF:Trp1313Cys	PROT:P04275	VWF	W	1313	C	W1313C	Likely pathogenic	1	1	8	25
MUT:VWF:Trp1745Cys	PROT:P04275	VWF	W	1745	C	W1745C	Likely pathogenic	1	2	8	25
MUT:VWF:Trp191Cys	PROT:P04275	VWF	W	191	C	W191C	Likely pathogenic	1	1	8	294
MUT:VWF:Tyr1146Cys	PROT:P04275	VWF	Y	1146	C	Y1146C	Pathogenic	1	4	8	192
MUT:VWF:Tyr1321Cys	PROT:P04275	VWF	Y	1321	C	Y1321C	Likely pathogenic	1	1	8	17
MUT:VWF:Tyr1542Cys	PROT:P04275	VWF	Y	1542	C	Y1542C	Likely pathogenic	1	1	8	25
MUT:VWF:Tyr674His	PROT:P04275	VWF	Y	674	H	Y674H	Likely benign	0	1	8	187
MUT:VWF:Tyr795Cys	PROT:P04275	VWF	Y	795	C	Y795C	Pathogenic	1	1	8	308
MUT:VWF:Val1191Ile	PROT:P04275	VWF	V	1191	I	V1191I	Likely benign	0	1	8	147
MUT:VWF:Val1229Gly	PROT:P04275	VWF	V	1229	G	V1229G	Likely benign	0	5	8	109
MUT:VWF:Val1314Asp	PROT:P04275	VWF	V	1314	D	V1314D	Pathogenic	1	1	8	24
MUT:VWF:Val1314Leu	PROT:P04275	VWF	V	1314	L	V1314L	Pathogenic	1	1	8	24
MUT:VWF:Val1314Phe	PROT:P04275	VWF	V	1314	F	V1314F	Pathogenic	1	1	8	24
MUT:VWF:Val1316Met	PROT:P04275	VWF	V	1316	M	V1316M	Pathogenic	1	3	8	22
MUT:VWF:Val1409Phe	PROT:P04275	VWF	V	1409	F	V1409F	Likely pathogenic	1	1	8	64
MUT:VWF:Val1499Glu	PROT:P04275	VWF	V	1499	E	V1499E	Pathogenic	1	1	8	18
MUT:VWF:Val1546Gly	PROT:P04275	VWF	V	1546	G	V1546G	Likely pathogenic	1	1	8	24
MUT:VWF:Val1565Leu	PROT:P04275	VWF	V	1565	L	V1565L	Benign	0	4	8	5
MUT:VWF:Val1607Asp	PROT:P04275	VWF	V	1607	D	V1607D	Likely pathogenic	1	2	8	6
MUT:VWF:Val1665Glu	PROT:P04275	VWF	V	1665	E	V1665E	Likely pathogenic	1	1	8	52
MUT:VWF:Val294Ala	PROT:P04275	VWF	V	294	A	V294A	Likely benign	0	1	8	191
MUT:VWF:Val471Ile	PROT:P04275	VWF	V	471	I	V471I	Benign/Likely benign	0	3	8	14
MUT:VWF:Val86Glu	PROT:P04275	VWF	V	86	E	V86E	Likely pathogenic	1	1	8	399
MUT:WARS1:Ala54Thr	PROT:P23381	WARS1	A	54	T	A54T	Likely benign	0	1	25	21
MUT:WARS1:Ala54Val	PROT:P23381	WARS1	A	54	V	A54V	Likely benign	0	1	25	21
MUT:WARS1:Arg298Gln	PROT:P23381	WARS1	R	298	Q	R298Q	Likely benign	0	1	25	18
MUT:WARS1:Asp419Asn	PROT:P23381	WARS1	D	419	N	D419N	Likely pathogenic	1	1	25	12
MUT:WARS1:Gly276Glu	PROT:P23381	WARS1	G	276	E	G276E	Likely pathogenic	1	1	25	4
MUT:WARS1:Leu9Val	PROT:P23381	WARS1	L	9	V	L9V	Benign/Likely benign	0	1	25	18
MUT:WARS1:Lys412Arg	PROT:P23381	WARS1	K	412	R	K412R	Likely benign	0	1	25	19
MUT:WARS1:Met1Val	PROT:P23381	WARS1	M	1	V	M1V	Pathogenic	1	1	25	26
MUT:WARS1:Val44Leu	PROT:P23381	WARS1	V	44	L	V44L	Likely benign	0	1	25	11
MUT:WARS2:Asp67His	PROT:Q9UGM6	WARS2	D	67	H	D67H	Benign	0	1	3	133
MUT:WARS2:Glu208Lys	PROT:Q9UGM6	WARS2	E	208	K	E208K	Likely benign	0	1	3	8
MUT:WARS2:Gly45Val	PROT:Q9UGM6	WARS2	G	45	V	G45V	Pathogenic	1	1	3	155
MUT:WARS2:Gly50Asp	PROT:Q9UGM6	WARS2	G	50	D	G50D	Likely pathogenic	1	2	3	150
MUT:WARS2:Gly50Cys	PROT:Q9UGM6	WARS2	G	50	C	G50C	Likely pathogenic	1	1	3	150
MUT:WARS2:His151Arg	PROT:Q9UGM6	WARS2	H	151	R	H151R	Likely benign	0	1	3	49
MUT:WARS2:Lys313Met	PROT:Q9UGM6	WARS2	K	313	M	K313M	Pathogenic/Likely pathogenic	1	2	3	72
MUT:WARS2:Met227Thr	PROT:Q9UGM6	WARS2	M	227	T	M227T	Likely pathogenic	1	1	3	3
MUT:WARS2:Val176Phe	PROT:Q9UGM6	WARS2	V	176	F	V176F	Likely pathogenic	1	1	3	24
MUT:WARS2:Val178Leu	PROT:Q9UGM6	WARS2	V	178	L	V178L	Pathogenic	1	1	3	22
MUT:WARS2:Val278Gly	PROT:Q9UGM6	WARS2	V	278	G	V278G	Likely pathogenic	1	1	3	37
MUT:WASF1:Ala462Val	PROT:Q92558	WASF1	A	462	V	A462V	Likely benign	0	1	7	28
MUT:WASF1:Arg307Cys	PROT:Q92558	WASF1	R	307	C	R307C	Likely benign	0	1	7	9
MUT:WASF1:Asn57Ser	PROT:Q92558	WASF1	N	57	S	N57S	Likely benign	0	1	7	34
MUT:WASF1:Asp289Val	PROT:Q92558	WASF1	D	289	V	D289V	Likely benign	0	1	7	9
MUT:WASF1:His285Arg	PROT:Q92558	WASF1	H	285	R	H285R	Likely benign	0	1	7	13
MUT:WASF1:Pro292Leu	PROT:Q92558	WASF1	P	292	L	P292L	Likely benign	0	1	7	6
MUT:WASF1:Pro349Ser	PROT:Q92558	WASF1	P	349	S	P349S	Benign	0	1	7	26
MUT:WASF1:Thr105Ala	PROT:Q92558	WASF1	T	105	A	T105A	Likely benign	0	1	7	9
MUT:WASF1:Thr265Ser	PROT:Q92558	WASF1	T	265	S	T265S	Likely benign	0	1	7	33
MUT:WASF1:Thr446Pro	PROT:Q92558	WASF1	T	446	P	T446P	Likely benign	0	1	7	44
MUT:WBP11:Arg91Cys	PROT:Q9Y2W2	WBP11	R	91	C	R91C	Likely pathogenic	1	1	18	14
MUT:WBP11:Leu186Val	PROT:Q9Y2W2	WBP11	L	186	V	L186V	Likely benign	0	1	18	5
MUT:WBP2:Arg125Gln	PROT:Q969T9	WBP2	R	125	Q	R125Q	Likely benign	0	1	10	32
MUT:WBP2:Pro54Arg	PROT:Q969T9	WBP2	P	54	R	P54R	Likely pathogenic	1	1	10	1
MUT:WDHD1:Gln231Leu	PROT:O75717	WDHD1	Q	231	L	Q231L	Likely benign	0	6	25	31
MUT:WDHD1:Gly607Ala	PROT:O75717	WDHD1	G	607	A	G607A	Likely benign	0	1	25	4
MUT:WDR11:Arg956Gln	PROT:Q9BZH6	WDR11	R	956	Q	R956Q	Likely benign	0	1	15	2
MUT:WDR11:Glu988Lys	PROT:Q9BZH6	WDR11	E	988	K	E988K	Likely benign	0	1	15	11
MUT:WDR11:His690Gln	PROT:Q9BZH6	WDR11	H	690	Q	H690Q	Pathogenic	1	1	15	71
MUT:WDR11:Thr647Ala	PROT:Q9BZH6	WDR11	T	647	A	T647A	Likely benign	0	1	15	39
MUT:WDR11:Val356Ile	PROT:Q9BZH6	WDR11	V	356	I	V356I	Benign/Likely benign	0	1	15	38
MUT:WDR19:Ala914Asp	PROT:Q8NEZ3	WDR19	A	914	D	A914D	Likely pathogenic	1	3	11	2
MUT:WDR19:Arg1178Gln	PROT:Q8NEZ3	WDR19	R	1178	Q	R1178Q	Pathogenic/Likely pathogenic	1	6	11	52
MUT:WDR19:Arg699Gln	PROT:Q8NEZ3	WDR19	R	699	Q	R699Q	Benign	0	4	11	137
MUT:WDR19:Asn1072Ser	PROT:Q8NEZ3	WDR19	N	1072	S	N1072S	Likely benign	0	1	11	117
MUT:WDR19:Asn273Asp	PROT:Q8NEZ3	WDR19	N	273	D	N273D	Pathogenic/Likely pathogenic	1	2	11	2
MUT:WDR19:Asp159Asn	PROT:Q8NEZ3	WDR19	D	159	N	D159N	Pathogenic/Likely pathogenic	1	1	11	116
MUT:WDR19:Cys1267Tyr	PROT:Q8NEZ3	WDR19	C	1267	Y	C1267Y	Likely pathogenic	1	1	11	6
MUT:WDR19:Gln1139Arg	PROT:Q8NEZ3	WDR19	Q	1139	R	Q1139R	Benign	0	4	11	91
MUT:WDR19:Glu1235Lys	PROT:Q8NEZ3	WDR19	E	1235	K	E1235K	Pathogenic/Likely pathogenic	1	2	11	5
MUT:WDR19:Gly1084Ser	PROT:Q8NEZ3	WDR19	G	1084	S	G1084S	Benign	0	5	11	129
MUT:WDR19:Gly294Arg	PROT:Q8NEZ3	WDR19	G	294	R	G294R	Pathogenic/Likely pathogenic	1	1	11	19
MUT:WDR19:Gly495Arg	PROT:Q8NEZ3	WDR19	G	495	R	G495R	Pathogenic	1	1	11	147
MUT:WDR19:Gly495Cys	PROT:Q8NEZ3	WDR19	G	495	C	G495C	Pathogenic	1	1	11	147
MUT:WDR19:His481Arg	PROT:Q8NEZ3	WDR19	H	481	R	H481R	Likely pathogenic	1	3	11	133
MUT:WDR19:Ile478Met	PROT:Q8NEZ3	WDR19	I	478	M	I478M	Pathogenic/Likely pathogenic	1	2	11	130
MUT:WDR19:Ile520Thr	PROT:Q8NEZ3	WDR19	I	520	T	I520T	Likely pathogenic	1	1	11	172
MUT:WDR19:Ile532Thr	PROT:Q8NEZ3	WDR19	I	532	T	I532T	Benign/Likely benign	0	5	11	184
MUT:WDR19:Leu618Pro	PROT:Q8NEZ3	WDR19	L	618	P	L618P	Pathogenic	1	1	11	218
MUT:WDR19:Leu710Ser	PROT:Q8NEZ3	WDR19	L	710	S	L710S	Pathogenic/Likely pathogenic	1	7	11	126
MUT:WDR19:Leu7Pro	PROT:Q8NEZ3	WDR19	L	7	P	L7P	Pathogenic	1	1	11	21
MUT:WDR19:Lys1090Gln	PROT:Q8NEZ3	WDR19	K	1090	Q	K1090Q	Likely benign	0	1	11	135
MUT:WDR19:Lys1271Glu	PROT:Q8NEZ3	WDR19	K	1271	E	K1271E	Pathogenic	1	1	11	2
MUT:WDR19:Phe249Ser	PROT:Q8NEZ3	WDR19	F	249	S	F249S	Pathogenic/Likely pathogenic	1	1	11	26
MUT:WDR19:Phe5Ser	PROT:Q8NEZ3	WDR19	F	5	S	F5S	Pathogenic/Likely pathogenic	1	2	11	23
MUT:WDR19:Pro1241Leu	PROT:Q8NEZ3	WDR19	P	1241	L	P1241L	Benign/Likely benign	0	6	11	11
MUT:WDR19:Ser536Thr	PROT:Q8NEZ3	WDR19	S	536	T	S536T	Benign	0	5	11	188
MUT:WDR19:Ser639Gly	PROT:Q8NEZ3	WDR19	S	639	G	S639G	Benign/Likely benign	0	4	11	197
MUT:WDR19:Thr261Ile	PROT:Q8NEZ3	WDR19	T	261	I	T261I	Likely benign	0	1	11	14
MUT:WDR19:Thr557Pro	PROT:Q8NEZ3	WDR19	T	557	P	T557P	Likely pathogenic	1	1	11	209
MUT:WDR19:Val304Ile	PROT:Q8NEZ3	WDR19	V	304	I	V304I	Benign	0	5	11	29
MUT:WDR19:Val345Gly	PROT:Q8NEZ3	WDR19	V	345	G	V345G	Pathogenic	1	1	11	3
MUT:WDR19:Val68Asp	PROT:Q8NEZ3	WDR19	V	68	D	V68D	Pathogenic	1	1	11	40
MUT:WDR35:Ala864Thr	PROT:Q9P2L0	WDR35	A	864	T	A864T	Likely pathogenic	1	1	20	13
MUT:WDR35:Ala867Thr	PROT:Q9P2L0	WDR35	A	867	T	A867T	Benign	0	2	20	10
MUT:WDR35:Arg1007Cys	PROT:Q9P2L0	WDR35	R	1007	C	R1007C	Benign	0	3	20	78
MUT:WDR35:Arg353Pro	PROT:Q9P2L0	WDR35	R	353	P	R353P	Benign/Likely benign	0	5	20	106
MUT:WDR35:Arg461Gln	PROT:Q9P2L0	WDR35	R	461	Q	R461Q	Likely pathogenic	1	1	20	2
MUT:WDR35:Arg467Lys	PROT:Q9P2L0	WDR35	R	467	K	R467K	Likely pathogenic	1	2	20	8
MUT:WDR35:Arg534Gln	PROT:Q9P2L0	WDR35	R	534	Q	R534Q	Benign/Likely benign	0	2	20	75
MUT:WDR35:Asp830Val	PROT:Q9P2L0	WDR35	D	830	V	D830V	Pathogenic	1	1	20	47
MUT:WDR35:Gln18Arg	PROT:Q9P2L0	WDR35	Q	18	R	Q18R	Benign/Likely benign	0	5	20	8
MUT:WDR35:Glu615Gly	PROT:Q9P2L0	WDR35	E	615	G	E615G	Pathogenic	1	1	20	65
MUT:WDR35:Glu972Gly	PROT:Q9P2L0	WDR35	E	972	G	E972G	Benign	0	2	20	43
MUT:WDR35:Gly69Asp	PROT:Q9P2L0	WDR35	G	69	D	G69D	Pathogenic/Likely pathogenic	1	4	20	18
MUT:WDR35:Ile717Val	PROT:Q9P2L0	WDR35	I	717	V	I717V	Benign/Likely benign	0	3	20	6
MUT:WDR35:Leu520Pro	PROT:Q9P2L0	WDR35	L	520	P	L520P	Pathogenic	1	1	20	61
MUT:WDR35:Leu531Val	PROT:Q9P2L0	WDR35	L	531	V	L531V	Benign/Likely benign	0	2	20	72
MUT:WDR35:Ser160Cys	PROT:Q9P2L0	WDR35	S	160	C	S160C	Likely benign	0	1	20	109
MUT:WDR35:Ser621Pro	PROT:Q9P2L0	WDR35	S	621	P	S621P	Likely benign	0	1	20	59
MUT:WDR35:Thr749Met	PROT:Q9P2L0	WDR35	T	749	M	T749M	Likely benign	0	1	20	13
MUT:WDR35:Trp1142Cys	PROT:Q9P2L0	WDR35	W	1142	C	W1142C	Pathogenic	1	1	20	27
MUT:WDR35:Trp261Arg	PROT:Q9P2L0	WDR35	W	261	R	W261R	Pathogenic	1	1	20	198
MUT:WDR35:Val257Ala	PROT:Q9P2L0	WDR35	V	257	A	V257A	Benign/Likely benign	0	3	20	202
MUT:WDR35:Val856Phe	PROT:Q9P2L0	WDR35	V	856	F	V856F	Benign	0	2	20	21
MUT:WDR44:Ile388Asn	PROT:Q5JSH3	WDR44	I	388	N	I388N	Likely pathogenic	1	1	70	9
MUT:WDR47:Arg193His	PROT:O94967	WDR47	R	193	H	R193H	Likely pathogenic	1	1	13	10
MUT:WDR48:Lys561Arg	PROT:Q8TAF3	WDR48	K	561	R	K561R	Benign	0	1	14	52
MUT:WDR5:Trp59Arg	PROT:P61964	WDR5	W	59	R	W59R	Likely pathogenic	1	1	4	57
MUT:WDR73:Arg256Gln	PROT:Q6P4I2	WDR73	R	256	Q	R256Q	Likely pathogenic	1	1	2	208
MUT:WDR73:Arg96Lys	PROT:Q6P4I2	WDR73	R	96	K	R96K	Pathogenic/Likely pathogenic	1	2	2	48
MUT:WDR73:Asp334Gly	PROT:Q6P4I2	WDR73	D	334	G	D334G	Benign	0	1	2	286
MUT:WDR73:Gly310Arg	PROT:Q6P4I2	WDR73	G	310	R	G310R	Likely benign	0	2	2	262
MUT:WDR73:His347Tyr	PROT:Q6P4I2	WDR73	H	347	Y	H347Y	Pathogenic	1	1	2	299
MUT:WDR73:Leu23Gln	PROT:Q6P4I2	WDR73	L	23	Q	L23Q	Likely pathogenic	1	1	2	24
MUT:WDR73:Leu98Pro	PROT:Q6P4I2	WDR73	L	98	P	L98P	Likely pathogenic	1	1	2	50
MUT:WDR73:Pro255Leu	PROT:Q6P4I2	WDR73	P	255	L	P255L	Likely benign	0	1	2	207
MUT:WDR81:Ala1471Ser	PROT:Q562E7	WDR81	A	1471	S	A1471S	Likely benign	0	1	11	132
MUT:WDR81:Ala685Val	PROT:Q562E7	WDR81	A	685	V	A685V	Likely benign	0	1	11	1
MUT:WDR81:Arg32Gln	PROT:Q562E7	WDR81	R	32	Q	R32Q	Likely benign	0	1	11	654
MUT:WDR81:Arg535His	PROT:Q562E7	WDR81	R	535	H	R535H	Likely benign	0	1	11	151
MUT:WDR81:Arg619Gln	PROT:Q562E7	WDR81	R	619	Q	R619Q	Likely benign	0	1	11	67
MUT:WDR81:Asn726Ser	PROT:Q562E7	WDR81	N	726	S	N726S	Likely benign	0	1	11	10
MUT:WDR81:Asp127Glu	PROT:Q562E7	WDR81	D	127	E	D127E	Likely benign	0	1	11	559
MUT:WDR81:Cys1494Tyr	PROT:Q562E7	WDR81	C	1494	Y	C1494Y	Likely benign	0	1	11	109
MUT:WDR81:Glu723Lys	PROT:Q562E7	WDR81	E	723	K	E723K	Likely benign	0	1	11	13
MUT:WDR81:Gly1038Arg	PROT:Q562E7	WDR81	G	1038	R	G1038R	Benign/Likely benign	0	2	11	75
MUT:WDR81:Gly1278Ser	PROT:Q562E7	WDR81	G	1278	S	G1278S	Benign/Likely benign	0	2	11	43
MUT:WDR81:Gly1590Ser	PROT:Q562E7	WDR81	G	1590	S	G1590S	Likely benign	0	1	11	13
MUT:WDR81:Gly1804Val	PROT:Q562E7	WDR81	G	1804	V	G1804V	Likely pathogenic	1	1	11	105
MUT:WDR81:Gly282Glu	PROT:Q562E7	WDR81	G	282	E	G282E	Likely pathogenic	1	2	11	404
MUT:WDR81:Ile1290Val	PROT:Q562E7	WDR81	I	1290	V	I1290V	Likely benign	0	1	11	55
MUT:WDR81:Ile1891Thr	PROT:Q562E7	WDR81	I	1891	T	I1891T	Likely pathogenic	1	1	11	192
MUT:WDR81:Leu767Phe	PROT:Q562E7	WDR81	L	767	F	L767F	Likely benign	0	1	11	24
MUT:WDR81:Met1362Thr	PROT:Q562E7	WDR81	M	1362	T	M1362T	Likely benign	0	1	11	127
MUT:WDR81:Pro209His	PROT:Q562E7	WDR81	P	209	H	P209H	Likely benign	0	1	11	477
MUT:WDR81:Pro752Ser	PROT:Q562E7	WDR81	P	752	S	P752S	Likely benign	0	2	11	9
MUT:WDR81:Pro856Leu	PROT:Q562E7	WDR81	P	856	L	P856L	Pathogenic/Likely pathogenic	1	1	11	113
MUT:WDR81:Thr623Met	PROT:Q562E7	WDR81	T	623	M	T623M	Likely benign	0	1	11	63
MUT:WDR81:Val1354Met	PROT:Q562E7	WDR81	V	1354	M	V1354M	Likely benign	0	1	11	119
MUT:WDR81:Val1721Ile	PROT:Q562E7	WDR81	V	1721	I	V1721I	Benign/Likely benign	0	1	11	22
MUT:WDR83OS:Asn5Ser	PROT:Q9Y284	WDR83OS	N	5	S	N5S	Benign	0	18	3	2
MUT:WDR87:Leu388Phe	PROT:Q6ZQQ6	WDR87	L	388	F	L388F	Likely benign	0	1	6	964
MUT:WEE2:Arg410Trp	PROT:P0C1S8	WEE2	R	410	W	R410W	Pathogenic	1	1	1	99
MUT:WEE2:Asp234His	PROT:P0C1S8	WEE2	D	234	H	D234H	Pathogenic	1	1	1	275
MUT:WHRN:Ala440Thr	PROT:Q9P202	WHRN	A	440	T	A440T	Benign	0	3	7	29
MUT:WHRN:Asn796Lys	PROT:Q9P202	WHRN	N	796	K	N796K	Benign	0	3	7	111
MUT:WHRN:Glu137Gln	PROT:Q9P202	WHRN	E	137	Q	E137Q	Benign	0	1	7	82
MUT:WHRN:Gly451Asp	PROT:Q9P202	WHRN	G	451	D	G451D	Benign/Likely benign	0	2	7	40
MUT:WHRN:His862Gln	PROT:Q9P202	WHRN	H	862	Q	H862Q	Benign/Likely benign	0	2	7	177
MUT:WHRN:Leu809Pro	PROT:Q9P202	WHRN	L	809	P	L809P	Likely pathogenic	1	1	7	124
MUT:WHRN:Met613Thr	PROT:Q9P202	WHRN	M	613	T	M613T	Benign	0	2	7	72
MUT:WHRN:Pro562Ala	PROT:Q9P202	WHRN	P	562	A	P562A	Benign	0	3	7	123
MUT:WHRN:Val783Ala	PROT:Q9P202	WHRN	V	783	A	V783A	Benign	0	2	7	98
MUT:WLS:Ile531Thr	PROT:Q5T9L3	WLS	I	531	T	I531T	Likely pathogenic	1	2	8	112
MUT:WLS:Tyr392Cys	PROT:Q5T9L3	WLS	Y	392	C	Y392C	Pathogenic	1	2	8	18
MUT:WLS:Tyr478Cys	PROT:Q5T9L3	WLS	Y	478	C	Y478C	Pathogenic/Likely pathogenic	1	2	8	59
MUT:WNK3:Glu607Val	PROT:Q9BYP7	WNK3	E	607	V	E607V	Pathogenic	1	1	19	75
MUT:WNK3:His1217Tyr	PROT:Q9BYP7	WNK3	H	1217	Y	H1217Y	Likely benign	0	1	19	112
MUT:WNK3:Leu300Ser	PROT:Q9BYP7	WNK3	L	300	S	L300S	Pathogenic	1	2	19	8
MUT:WNK3:Pro204Arg	PROT:Q9BYP7	WNK3	P	204	R	P204R	Pathogenic	1	2	19	28
MUT:WNK3:Thr708Ser	PROT:Q9BYP7	WNK3	T	708	S	T708S	Likely benign	0	1	19	26
MUT:WNT10A:Ala131Thr	PROT:Q9GZT5	WNT10A	A	131	T	A131T	Pathogenic/Likely pathogenic	1	2	3	223
MUT:WNT10A:Ala297Thr	PROT:Q9GZT5	WNT10A	A	297	T	A297T	Likely pathogenic	1	3	3	57
MUT:WNT10A:Arg104Cys	PROT:Q9GZT5	WNT10A	R	104	C	R104C	Pathogenic/Likely pathogenic	1	2	3	250
MUT:WNT10A:Arg128Gln	PROT:Q9GZT5	WNT10A	R	128	Q	R128Q	Pathogenic/Likely pathogenic	1	3	3	226
MUT:WNT10A:Asn304His	PROT:Q9GZT5	WNT10A	N	304	H	N304H	Pathogenic/Likely pathogenic	1	1	3	50
MUT:WNT10A:Asn306Lys	PROT:Q9GZT5	WNT10A	N	306	K	N306K	Likely benign	0	4	3	48
MUT:WNT10A:Asn42Ser	PROT:Q9GZT5	WNT10A	N	42	S	N42S	Likely benign	0	1	3	312
MUT:WNT10A:Asp335Asn	PROT:Q9GZT5	WNT10A	D	335	N	D335N	Benign/Likely benign	0	3	3	19
MUT:WNT10A:Cys271Tyr	PROT:Q9GZT5	WNT10A	C	271	Y	C271Y	Likely pathogenic	1	1	3	83
MUT:WNT10A:Cys276Ser	PROT:Q9GZT5	WNT10A	C	276	S	C276S	Likely pathogenic	1	2	3	78
MUT:WNT10A:Cys362Arg	PROT:Q9GZT5	WNT10A	C	362	R	C362R	Pathogenic/Likely pathogenic	1	1	3	5
MUT:WNT10A:Cys400Tyr	PROT:Q9GZT5	WNT10A	C	400	Y	C400Y	Pathogenic	1	1	3	26
MUT:WNT10A:Glu95Lys	PROT:Q9GZT5	WNT10A	E	95	K	E95K	Pathogenic/Likely pathogenic	1	3	3	259
MUT:WNT10A:Gly2Ser	PROT:Q9GZT5	WNT10A	G	2	S	G2S	Likely benign	0	1	3	352
MUT:WNT10A:Gly356Ser	PROT:Q9GZT5	WNT10A	G	356	S	G356S	Likely pathogenic	1	1	3	1
MUT:WNT10A:Leu174Pro	PROT:Q9GZT5	WNT10A	L	174	P	L174P	Likely pathogenic	1	2	3	180
MUT:WNT10A:Leu273Ile	PROT:Q9GZT5	WNT10A	L	273	I	L273I	Benign	0	4	3	81
MUT:WNT10A:Met1Arg	PROT:Q9GZT5	WNT10A	M	1	R	M1R	Likely pathogenic	1	1	3	353
MUT:WNT10A:Met1Ile	PROT:Q9GZT5	WNT10A	M	1	I	M1I	Pathogenic/Likely pathogenic	1	2	3	353
MUT:WNT10A:Met1Leu	PROT:Q9GZT5	WNT10A	M	1	L	M1L	Pathogenic/Likely pathogenic	1	1	3	353
MUT:WNT10A:Met242Arg	PROT:Q9GZT5	WNT10A	M	242	R	M242R	Likely pathogenic	1	1	3	112
MUT:WNT10A:Ser292Gly	PROT:Q9GZT5	WNT10A	S	292	G	S292G	Likely benign	0	1	3	62
MUT:WNT10A:Thr285Ala	PROT:Q9GZT5	WNT10A	T	285	A	T285A	Likely benign	0	1	3	69
MUT:WNT10A:Thr357Ile	PROT:Q9GZT5	WNT10A	T	357	I	T357I	Pathogenic	1	1	3	0
MUT:WNT10A:Tyr118Cys	PROT:Q9GZT5	WNT10A	Y	118	C	Y118C	Likely pathogenic	1	1	3	236
MUT:WNT10A:Val145Met	PROT:Q9GZT5	WNT10A	V	145	M	V145M	Pathogenic/Likely pathogenic	1	2	3	209
MUT:WNT10A:Val249Ile	PROT:Q9GZT5	WNT10A	V	249	I	V249I	Likely benign	0	1	3	105
MUT:WNT11:Met66Ile	PROT:O96014	WNT11	M	66	I	M66I	Benign	0	2	1	179
MUT:WNT1:Ala133Thr	PROT:P04628	WNT1	A	133	T	A133T	Likely pathogenic	1	1	2	11
MUT:WNT1:Arg235Trp	PROT:P04628	WNT1	R	235	W	R235W	Likely pathogenic	1	1	2	91
MUT:WNT1:Gly146Asp	PROT:P04628	WNT1	G	146	D	G146D	Likely pathogenic	1	1	2	2
MUT:WNT1:Gly206Asp	PROT:P04628	WNT1	G	206	D	G206D	Likely pathogenic	1	1	2	62
MUT:WNT1:Leu3His	PROT:P04628	WNT1	L	3	H	L3H	Likely benign	0	1	2	141
MUT:WNT1:Phe298Cys	PROT:P04628	WNT1	F	298	C	F298C	Likely pathogenic	1	1	2	58
MUT:WNT1:Pro296Leu	PROT:P04628	WNT1	P	296	L	P296L	Likely pathogenic	1	1	2	60
MUT:WNT1:Ser88Arg	PROT:P04628	WNT1	S	88	R	S88R	Benign/Likely benign	0	1	2	56
MUT:WNT1:Trp167Cys	PROT:P04628	WNT1	W	167	C	W167C	Pathogenic/Likely pathogenic	1	1	2	23
MUT:WNT1:Val355Phe	PROT:P04628	WNT1	V	355	F	V355F	Likely pathogenic	1	3	2	1
MUT:WWOX:Ala179Thr	PROT:Q9NZC7	WWOX	A	179	T	A179T	Benign	0	3	13	17
MUT:WWOX:Arg120Trp	PROT:Q9NZC7	WWOX	R	120	W	R120W	Benign/Likely benign	0	3	13	9
MUT:WWOX:Arg279Cys	PROT:Q9NZC7	WWOX	R	279	C	R279C	Benign/Likely benign	0	2	13	5
MUT:WWOX:Arg310Pro	PROT:Q9NZC7	WWOX	R	310	P	R310P	Likely pathogenic	1	1	13	2
MUT:WWOX:Arg314His	PROT:Q9NZC7	WWOX	R	314	H	R314H	Benign	0	2	13	2
MUT:WWOX:Arg381Cys	PROT:Q9NZC7	WWOX	R	381	C	R381C	Benign/Likely benign	0	2	13	69
MUT:WWOX:Arg381His	PROT:Q9NZC7	WWOX	R	381	H	R381H	Likely benign	0	2	13	69
MUT:WWOX:Asp183Asn	PROT:Q9NZC7	WWOX	D	183	N	D183N	Benign	0	2	13	21
MUT:WWOX:Asp58Asn	PROT:Q9NZC7	WWOX	D	58	N	D58N	Likely pathogenic	1	1	13	3
MUT:WWOX:Cys299Arg	PROT:Q9NZC7	WWOX	C	299	R	C299R	Likely pathogenic	1	1	13	12
MUT:WWOX:Gln230Pro	PROT:Q9NZC7	WWOX	Q	230	P	Q230P	Pathogenic/Likely pathogenic	1	6	13	44
MUT:WWOX:Gly372Arg	PROT:Q9NZC7	WWOX	G	372	R	G372R	Pathogenic/Likely pathogenic	1	2	13	60
MUT:WWOX:His205Asn	PROT:Q9NZC7	WWOX	H	205	N	H205N	Benign/Likely benign	0	2	13	43
MUT:WWOX:His46Tyr	PROT:Q9NZC7	WWOX	H	46	Y	H46Y	Likely pathogenic	1	1	13	2
MUT:WWOX:Leu216Val	PROT:Q9NZC7	WWOX	L	216	V	L216V	Benign	0	2	13	54
MUT:WWOX:Met352Ile	PROT:Q9NZC7	WWOX	M	352	I	M352I	Pathogenic	1	1	13	40
MUT:WWOX:Pro252Ala	PROT:Q9NZC7	WWOX	P	252	A	P252A	Benign	0	3	13	22
MUT:WWOX:Pro282Ala	PROT:Q9NZC7	WWOX	P	282	A	P282A	Benign	0	2	13	5
MUT:WWOX:Pro47Arg	PROT:Q9NZC7	WWOX	P	47	R	P47R	Pathogenic	1	1	13	1
MUT:WWOX:Pro47Thr	PROT:Q9NZC7	WWOX	P	47	T	P47T	Pathogenic	1	1	13	1
MUT:WWOX:Pro98Leu	PROT:Q9NZC7	WWOX	P	98	L	P98L	Benign	0	2	13	2
MUT:WWOX:Ser413Tyr	PROT:Q9NZC7	WWOX	S	413	Y	S413Y	Benign	0	2	13	101
MUT:WWOX:Thr12Met	PROT:Q9NZC7	WWOX	T	12	M	T12M	Likely pathogenic	1	1	13	0
MUT:XIAP:Ala321Gly	PROT:P98170	XIAP	A	321	G	A321G	Benign/Likely benign	0	1	35	1
MUT:XIAP:Asn119Lys	PROT:P98170	XIAP	N	119	K	N119K	Benign	0	1	35	3
MUT:XIAP:Cys203Tyr	PROT:P98170	XIAP	C	203	Y	C203Y	Pathogenic	1	1	35	5
MUT:XIAP:Gln145His	PROT:P98170	XIAP	Q	145	H	Q145H	Likely benign	0	1	35	6
MUT:XIAP:Gln398His	PROT:P98170	XIAP	Q	398	H	Q398H	Benign	0	1	35	2
MUT:XIAP:Gln423Pro	PROT:P98170	XIAP	Q	423	P	Q423P	Benign	0	2	35	4
MUT:XIAP:Glu164Gly	PROT:P98170	XIAP	E	164	G	E164G	Likely benign	0	1	35	4
MUT:XIAP:Gly8Glu	PROT:P98170	XIAP	G	8	E	G8E	Benign	0	1	35	11
MUT:XIAP:Gly95Ser	PROT:P98170	XIAP	G	95	S	G95S	Likely benign	0	1	35	8
MUT:XIAP:His178Tyr	PROT:P98170	XIAP	H	178	Y	H178Y	Benign	0	1	35	2
MUT:XIAP:His343Asn	PROT:P98170	XIAP	H	343	N	H343N	Benign	0	1	35	4
MUT:XIAP:Ile269Met	PROT:P98170	XIAP	I	269	M	I269M	Benign	0	1	35	28
MUT:XIAP:Ile366Val	PROT:P98170	XIAP	I	366	V	I366V	Benign/Likely benign	0	1	35	5
MUT:XIAP:Ile380Val	PROT:P98170	XIAP	I	380	V	I380V	Benign	0	1	35	7
MUT:XIAP:Ile397Met	PROT:P98170	XIAP	I	397	M	I397M	Likely benign	0	1	35	1
MUT:XIAP:Ile399Arg	PROT:P98170	XIAP	I	399	R	I399R	Benign	0	1	35	3
MUT:XIAP:Ile494Asn	PROT:P98170	XIAP	I	494	N	I494N	Likely pathogenic	1	1	35	8
MUT:XIAP:Leu189Pro	PROT:P98170	XIAP	L	189	P	L189P	Pathogenic	1	1	35	9
MUT:XIAP:Leu348Phe	PROT:P98170	XIAP	L	348	F	L348F	Benign	0	1	35	1
MUT:XIAP:Pro312Ser	PROT:P98170	XIAP	P	312	S	P312S	Benign	0	1	35	1
MUT:XIAP:Ser45Leu	PROT:P98170	XIAP	S	45	L	S45L	Benign	0	1	35	5
MUT:XIRP1:Ala1061Val	PROT:Q702N8	XIRP1	A	1061	V	A1061V	Benign	0	4	22	48
MUT:XIRP1:Ala1608Val	PROT:Q702N8	XIRP1	A	1608	V	A1608V	Benign	0	1	22	61
MUT:XIRP1:Ala722Val	PROT:Q702N8	XIRP1	A	722	V	A722V	Benign	0	1	22	2
MUT:XIRP1:Arg1658Gln	PROT:Q702N8	XIRP1	R	1658	Q	R1658Q	Likely benign	0	1	22	11
MUT:XIRP1:Arg206His	PROT:Q702N8	XIRP1	R	206	H	R206H	Likely benign	0	1	22	1
MUT:XIRP1:Arg320Gln	PROT:Q702N8	XIRP1	R	320	Q	R320Q	Likely benign	0	1	22	12
MUT:XIRP1:Arg551Gln	PROT:Q702N8	XIRP1	R	551	Q	R551Q	Benign	0	1	22	22
MUT:XIRP1:Arg66His	PROT:Q702N8	XIRP1	R	66	H	R66H	Benign	0	1	22	139
MUT:XIRP1:Arg678Trp	PROT:Q702N8	XIRP1	R	678	W	R678W	Benign	0	1	22	12
MUT:XIRP1:Arg776Trp	PROT:Q702N8	XIRP1	R	776	W	R776W	Benign	0	1	22	19
MUT:XIRP1:Asp1665Gly	PROT:Q702N8	XIRP1	D	1665	G	D1665G	Benign	0	1	22	4
MUT:XIRP1:Asp3Asn	PROT:Q702N8	XIRP1	D	3	N	D3N	Likely benign	0	1	22	202
MUT:XIRP1:Gln1707His	PROT:Q702N8	XIRP1	Q	1707	H	Q1707H	Benign	0	1	22	8
MUT:XIRP1:Gln189Arg	PROT:Q702N8	XIRP1	Q	189	R	Q189R	Benign	0	1	22	16
MUT:XIRP1:Glu110Asp	PROT:Q702N8	XIRP1	E	110	D	E110D	Likely benign	0	1	22	95
MUT:XIRP1:Glu1499Lys	PROT:Q702N8	XIRP1	E	1499	K	E1499K	Likely benign	0	1	22	39
MUT:XIRP1:Glu386Lys	PROT:Q702N8	XIRP1	E	386	K	E386K	Likely benign	0	1	22	54
MUT:XIRP1:Glu599Lys	PROT:Q702N8	XIRP1	E	599	K	E599K	Benign	0	1	22	70
MUT:XIRP1:Gly1443Ser	PROT:Q702N8	XIRP1	G	1443	S	G1443S	Benign	0	1	22	17
MUT:XIRP1:Gly1604Arg	PROT:Q702N8	XIRP1	G	1604	R	G1604R	Benign	0	1	22	65
MUT:XIRP1:His965Pro	PROT:Q702N8	XIRP1	H	965	P	H965P	Benign	0	1	22	34
MUT:XIRP1:Ile1724Val	PROT:Q702N8	XIRP1	I	1724	V	I1724V	Benign	0	1	22	25
MUT:XIRP1:Met1784Ile	PROT:Q702N8	XIRP1	M	1784	I	M1784I	Benign	0	1	22	85
MUT:XIRP1:Pro1255Ser	PROT:Q702N8	XIRP1	P	1255	S	P1255S	Benign	0	1	22	94
MUT:XIRP1:Pro1258Thr	PROT:Q702N8	XIRP1	P	1258	T	P1258T	Benign	0	1	22	91
MUT:XIRP1:Pro1350Ala	PROT:Q702N8	XIRP1	P	1350	A	P1350A	Likely benign	0	1	22	1
MUT:XIRP1:Pro581Thr	PROT:Q702N8	XIRP1	P	581	T	P581T	Benign	0	1	22	52
MUT:XIRP1:Pro859Leu	PROT:Q702N8	XIRP1	P	859	L	P859L	Benign	0	1	22	66
MUT:XIRP1:Ser1354Leu	PROT:Q702N8	XIRP1	S	1354	L	S1354L	Benign	0	1	22	3
MUT:XIRP1:Ser808Leu	PROT:Q702N8	XIRP1	S	808	L	S808L	Benign	0	1	22	51
MUT:XIRP1:Thr1589Ile	PROT:Q702N8	XIRP1	T	1589	I	T1589I	Benign	0	1	22	80
MUT:XIRP1:Thr1830Met	PROT:Q702N8	XIRP1	T	1830	M	T1830M	Likely benign	0	1	22	131
MUT:XIRP1:Val1148Met	PROT:Q702N8	XIRP1	V	1148	M	V1148M	Likely benign	0	1	22	27
MUT:XIRP1:Val1501Ala	PROT:Q702N8	XIRP1	V	1501	A	V1501A	Benign	0	1	22	41
MUT:XIRP1:Val1501Met	PROT:Q702N8	XIRP1	V	1501	M	V1501M	Benign	0	1	22	41
MUT:XIRP1:Val1729Leu	PROT:Q702N8	XIRP1	V	1729	L	V1729L	Benign	0	1	22	30
MUT:XIRP1:Val1768Met	PROT:Q702N8	XIRP1	V	1768	M	V1768M	Benign	0	1	22	69
MUT:XK:Cys294Arg	PROT:P51811	XK	C	294	R	C294R	Pathogenic	1	1	4	89
MUT:XK:Ile240Val	PROT:P51811	XK	I	240	V	I240V	Likely benign	0	1	4	120
MUT:XK:Thr428Ile	PROT:P51811	XK	T	428	I	T428I	Likely benign	0	1	4	1
MUT:XKR7:Arg492His	PROT:Q5GH72	XKR7	R	492	H	R492H	Likely pathogenic	1	1	1	66
MUT:XPC:Ala499Val	PROT:Q01831	XPC	A	499	V	A499V	Benign	0	2	49	3
MUT:XPC:Arg247Gln	PROT:Q01831	XPC	R	247	Q	R247Q	Likely benign	0	1	49	73
MUT:XPC:Arg293Gln	PROT:Q01831	XPC	R	293	Q	R293Q	Likely benign	0	1	49	47
MUT:XPC:Arg492His	PROT:Q01831	XPC	R	492	H	R492H	Benign/Likely benign	0	3	49	1
MUT:XPC:Asn198Ser	PROT:Q01831	XPC	N	198	S	N198S	Likely benign	0	1	49	24
MUT:XPC:Asp35Glu	PROT:Q01831	XPC	D	35	E	D35E	Likely benign	0	1	49	9
MUT:XPC:Asp616Glu	PROT:Q01831	XPC	D	616	E	D616E	Likely benign	0	1	49	3
MUT:XPC:Gln939Lys	PROT:Q01831	XPC	Q	939	K	Q939K	Benign/Likely benign	0	1	49	47
MUT:XPC:Glu721Asp	PROT:Q01831	XPC	E	721	D	E721D	Benign	0	1	49	10
MUT:XPC:Gly9Arg	PROT:Q01831	XPC	G	9	R	G9R	Likely benign	0	1	49	35
MUT:XPC:His111Leu	PROT:Q01831	XPC	H	111	L	H111L	Benign	0	1	49	6
MUT:XPC:Leu16Val	PROT:Q01831	XPC	L	16	V	L16V	Benign	0	10	49	28
MUT:XPC:Leu339Ser	PROT:Q01831	XPC	L	339	S	L339S	Likely benign	0	1	49	1
MUT:XPC:Leu48Phe	PROT:Q01831	XPC	L	48	F	L48F	Benign/Likely benign	0	2	49	2
MUT:XPC:Lys481Asn	PROT:Q01831	XPC	K	481	N	K481N	Benign/Likely benign	0	1	49	12
MUT:XPC:Lys928Gln	PROT:Q01831	XPC	K	928	Q	K928Q	Benign/Likely benign	0	3	49	36
MUT:XPC:Met1Arg	PROT:Q01831	XPC	M	1	R	M1R	Pathogenic	1	1	49	43
MUT:XPC:Met1Leu	PROT:Q01831	XPC	M	1	L	M1L	Pathogenic	1	1	49	43
MUT:XPC:Met513Ile	PROT:Q01831	XPC	M	513	I	M513I	Benign	0	2	49	2
MUT:XPC:Phe287Cys	PROT:Q01831	XPC	F	287	C	F287C	Benign/Likely benign	0	1	49	53
MUT:XPC:Phe614Ser	PROT:Q01831	XPC	F	614	S	F614S	Benign/Likely benign	0	1	49	5
MUT:XPC:Pro334His	PROT:Q01831	XPC	P	334	H	P334H	Benign/Likely benign	0	3	49	6
MUT:XPC:Pro334Ser	PROT:Q01831	XPC	P	334	S	P334S	Benign/Likely benign	0	2	49	6
MUT:XPC:Pro464Leu	PROT:Q01831	XPC	P	464	L	P464L	Likely benign	0	1	49	4
MUT:XPC:Pro633Ser	PROT:Q01831	XPC	P	633	S	P633S	Benign	0	1	49	9
MUT:XPC:Pro645Ala	PROT:Q01831	XPC	P	645	A	P645A	Likely pathogenic	1	1	49	3
MUT:XPC:Thr689Met	PROT:Q01831	XPC	T	689	M	T689M	Benign/Likely benign	0	2	49	3
MUT:XPC:Tyr585Cys	PROT:Q01831	XPC	Y	585	C	Y585C	Likely pathogenic	1	2	49	34
MUT:XPNPEP1:Val638Met	PROT:Q9NQW7	XPNPEP1	V	638	M	V638M	Likely benign	0	1	14	15
MUT:XPNPEP3:Arg208Lys	PROT:Q9NQH7	XPNPEP3	R	208	K	R208K	Likely benign	0	1	8	39
MUT:XPNPEP3:Arg254Leu	PROT:Q9NQH7	XPNPEP3	R	254	L	R254L	Benign/Likely benign	0	1	8	6
MUT:XPNPEP3:Gly453Cys	PROT:Q9NQH7	XPNPEP3	G	453	C	G453C	Pathogenic	1	1	8	2
MUT:XPNPEP3:Lys194Asn	PROT:Q9NQH7	XPNPEP3	K	194	N	K194N	Likely benign	0	1	8	53
MUT:XPO5:Arg386His	PROT:Q9HAV4	XPO5	R	386	H	R386H	Likely benign	0	1	14	27
MUT:XPO5:Gly350Glu	PROT:Q9HAV4	XPO5	G	350	E	G350E	Likely benign	0	1	14	63
MUT:XPO5:Lys981Arg	PROT:Q9HAV4	XPO5	K	981	R	K981R	Likely benign	0	1	14	51
MUT:XPO5:Val552Ala	PROT:Q9HAV4	XPO5	V	552	A	V552A	Benign	0	1	14	38
MUT:XPO5:Val63Ile	PROT:Q9HAV4	XPO5	V	63	I	V63I	Likely benign	0	1	14	61
MUT:XPO5:Val832Ile	PROT:Q9HAV4	XPO5	V	832	I	V832I	Benign	0	1	14	6
MUT:XRCC2:Arg188His	PROT:O43543	XRCC2	R	188	H	R188H	Benign	0	2	9	48
MUT:XRCC2:Gln248Pro	PROT:O43543	XRCC2	Q	248	P	Q248P	Likely benign	0	1	9	1
MUT:XRCC2:Glu208Gly	PROT:O43543	XRCC2	E	208	G	E208G	Likely benign	0	1	9	28
MUT:XRCC2:His211Pro	PROT:O43543	XRCC2	H	211	P	H211P	Likely benign	0	1	9	25
MUT:XRCC2:Ile221Val	PROT:O43543	XRCC2	I	221	V	I221V	Likely benign	0	1	9	15
MUT:XRCC2:Ile43Val	PROT:O43543	XRCC2	I	43	V	I43V	Likely benign	0	1	9	16
MUT:XRCC2:Leu216Pro	PROT:O43543	XRCC2	L	216	P	L216P	Likely benign	0	1	9	20
MUT:XRCC2:Met1Thr	PROT:O43543	XRCC2	M	1	T	M1T	Likely pathogenic	1	1	9	9
MUT:XRCC2:Met239Ile	PROT:O43543	XRCC2	M	239	I	M239I	Likely benign	0	1	9	3
MUT:XRCC2:Met89Val	PROT:O43543	XRCC2	M	89	V	M89V	Likely benign	0	1	9	30
MUT:XRCC2:Phe270Val	PROT:O43543	XRCC2	F	270	V	F270V	Benign/Likely benign	0	3	9	9
MUT:XRCC2:Ser204Asn	PROT:O43543	XRCC2	S	204	N	S204N	Likely benign	0	1	9	32
MUT:XRCC2:Ser264Asn	PROT:O43543	XRCC2	S	264	N	S264N	Likely benign	0	1	9	3
MUT:XRCC2:Thr197Ser	PROT:O43543	XRCC2	T	197	S	T197S	Likely benign	0	1	9	39
MUT:XRCC6:Met348Ile	PROT:P12956	XRCC6	M	348	I	M348I	Likely benign	0	1	73	3
MUT:XYLT1:Ala115Ser	PROT:Q86Y38	XYLT1	A	115	S	A115S	Benign/Likely benign	0	3	7	126
MUT:XYLT1:Ala223Gly	PROT:Q86Y38	XYLT1	A	223	G	A223G	Benign	0	2	7	18
MUT:XYLT1:Ala886Ser	PROT:Q86Y38	XYLT1	A	886	S	A886S	Benign	0	2	7	212
MUT:XYLT1:Ala901Val	PROT:Q86Y38	XYLT1	A	901	V	A901V	Likely benign	0	1	7	227
MUT:XYLT1:Arg481Trp	PROT:Q86Y38	XYLT1	R	481	W	R481W	Pathogenic	1	1	7	32
MUT:XYLT1:Arg551Cys	PROT:Q86Y38	XYLT1	R	551	C	R551C	Pathogenic	1	1	7	102
MUT:XYLT1:Arg694His	PROT:Q86Y38	XYLT1	R	694	H	R694H	Likely benign	0	1	7	20
MUT:XYLT1:Arg892Gln	PROT:Q86Y38	XYLT1	R	892	Q	R892Q	Benign	0	2	7	218
MUT:XYLT1:Asp433Glu	PROT:Q86Y38	XYLT1	D	433	E	D433E	Likely benign	0	2	7	16
MUT:XYLT1:Gly103Arg	PROT:Q86Y38	XYLT1	G	103	R	G103R	Likely benign	0	1	7	138
MUT:XYLT1:Gly640Ser	PROT:Q86Y38	XYLT1	G	640	S	G640S	Benign	0	1	7	25
MUT:XYLT1:Leu814Phe	PROT:Q86Y38	XYLT1	L	814	F	L814F	Likely benign	0	1	7	140
MUT:XYLT1:Pro385Leu	PROT:Q86Y38	XYLT1	P	385	L	P385L	Likely benign	0	2	7	64
MUT:XYLT1:Pro581Leu	PROT:Q86Y38	XYLT1	P	581	L	P581L	Likely benign	0	1	7	84
MUT:XYLT1:Pro766Ala	PROT:Q86Y38	XYLT1	P	766	A	P766A	Benign	0	2	7	92
MUT:XYLT1:Thr665Met	PROT:Q86Y38	XYLT1	T	665	M	T665M	Benign	0	2	7	0
MUT:XYLT1:Tyr614Cys	PROT:Q86Y38	XYLT1	Y	614	C	Y614C	Likely benign	0	1	7	51
MUT:XYLT1:Val788Ile	PROT:Q86Y38	XYLT1	V	788	I	V788I	Likely benign	0	1	7	114
MUT:XYLT1:Val839Ile	PROT:Q86Y38	XYLT1	V	839	I	V839I	Benign	0	2	7	165
MUT:XYLT2:Arg120His	PROT:Q9H1B5	XYLT2	R	120	H	R120H	Benign/Likely benign	0	2	3	164
MUT:XYLT2:Arg305Thr	PROT:Q9H1B5	XYLT2	R	305	T	R305T	Benign	0	1	3	21
MUT:XYLT2:Arg563Cys	PROT:Q9H1B5	XYLT2	R	563	C	R563C	Likely pathogenic	1	1	3	238
MUT:XYLT2:Arg636His	PROT:Q9H1B5	XYLT2	R	636	H	R636H	Likely benign	0	1	3	165
MUT:XYLT2:Asp56Asn	PROT:Q9H1B5	XYLT2	D	56	N	D56N	Benign/Likely benign	0	2	3	228
MUT:XYLT2:Asp850Asn	PROT:Q9H1B5	XYLT2	D	850	N	D850N	Likely pathogenic	1	1	3	46
MUT:XYLT2:Gln615His	PROT:Q9H1B5	XYLT2	Q	615	H	Q615H	Benign	0	1	3	186
MUT:XYLT2:Pro418Leu	PROT:Q9H1B5	XYLT2	P	418	L	P418L	Benign/Likely benign	0	1	3	134
MUT:XYLT2:Thr540Ile	PROT:Q9H1B5	XYLT2	T	540	I	T540I	Benign/Likely benign	0	1	3	256
MUT:XYLT2:Thr801Arg	PROT:Q9H1B5	XYLT2	T	801	R	T801R	Benign	0	3	3	0
MUT:XYLT2:Val675Met	PROT:Q9H1B5	XYLT2	V	675	M	V675M	Benign/Likely benign	0	2	3	126
MUT:YAP1:Met86Thr	PROT:P46937	YAP1	M	86	T	M86T	Pathogenic	1	1	51	3
MUT:YAP1:Pro278Ser	PROT:P46937	YAP1	P	278	S	P278S	Likely benign	0	2	51	2
MUT:YAP1:Ser163Cys	PROT:P46937	YAP1	S	163	C	S163C	Likely pathogenic	1	1	51	7
MUT:YBX1:Gly227Val	PROT:P67809	YBX1	G	227	V	G227V	Benign	0	1	19	18
MUT:YEATS2:Thr1255Ile	PROT:Q9ULM3	YEATS2	T	1255	I	T1255I	Likely benign	0	1	43	4
MUT:YEATS2:Thr534Lys	PROT:Q9ULM3	YEATS2	T	534	K	T534K	Benign/Likely benign	0	1	43	0
MUT:YEATS2:Val530Ile	PROT:Q9ULM3	YEATS2	V	530	I	V530I	Benign	0	1	43	4
MUT:YES1:Lys113Gln	PROT:P07947	YES1	K	113	Q	K113Q	Likely benign	0	5	25	25
MUT:YIF1B:Lys123Gln	PROT:Q5BJH7	YIF1B	K	123	Q	K123Q	Pathogenic	1	1	6	0
MUT:YIF1B:Pro20Leu	PROT:Q5BJH7	YIF1B	P	20	L	P20L	Likely benign	0	1	6	73
MUT:YLPM1:Asp1856Asn	PROT:P49750	YLPM1	D	1856	N	D1856N	Likely benign	0	1	6	128
MUT:YLPM1:Tyr452Phe	PROT:P49750	YLPM1	Y	452	F	Y452F	Benign	0	1	6	208
MUT:YME1L1:Arg149Trp	PROT:Q96TA2	YME1L1	R	149	W	R149W	Pathogenic	1	1	20	88
MUT:YME1L1:Leu667Val	PROT:Q96TA2	YME1L1	L	667	V	L667V	Likely pathogenic	1	1	20	37
MUT:YME1L1:Val287Met	PROT:Q96TA2	YME1L1	V	287	M	V287M	Likely benign	0	1	20	50
MUT:YRDC:Ala84Val	PROT:Q86U90	YRDC	A	84	V	A84V	Pathogenic	1	1	1	77
MUT:YRDC:Ile221Thr	PROT:Q86U90	YRDC	I	221	T	I221T	Pathogenic	1	1	1	60
MUT:YRDC:Met153Val	PROT:Q86U90	YRDC	M	153	V	M153V	Likely benign	0	1	1	8
MUT:YRDC:Ser2Cys	PROT:Q86U90	YRDC	S	2	C	S2C	Likely benign	0	1	1	159
MUT:YTHDC2:Arg265Gln	PROT:Q9H6S0	YTHDC2	R	265	Q	R265Q	Likely benign	0	1	32	29
MUT:YTHDC2:Asn1021Asp	PROT:Q9H6S0	YTHDC2	N	1021	D	N1021D	Likely benign	0	1	32	27
MUT:YTHDC2:Asp651His	PROT:Q9H6S0	YTHDC2	D	651	H	D651H	Benign	0	1	32	4
MUT:YTHDC2:Ile1027Met	PROT:Q9H6S0	YTHDC2	I	1027	M	I1027M	Benign	0	1	32	33
MUT:YTHDC2:Leu1409Gln	PROT:Q9H6S0	YTHDC2	L	1409	Q	L1409Q	Benign	0	1	32	17
MUT:YTHDC2:Met1286Val	PROT:Q9H6S0	YTHDC2	M	1286	V	M1286V	Benign	0	1	32	5
MUT:YTHDC2:Pro12Leu	PROT:Q9H6S0	YTHDC2	P	12	L	P12L	Benign	0	1	32	4
MUT:YTHDC2:Ser652Asn	PROT:Q9H6S0	YTHDC2	S	652	N	S652N	Benign	0	1	32	5
MUT:YTHDC2:Thr565Ser	PROT:Q9H6S0	YTHDC2	T	565	S	T565S	Benign	0	4	32	28
MUT:YTHDC2:Tyr389Phe	PROT:Q9H6S0	YTHDC2	Y	389	F	Y389F	Benign	0	1	32	17
MUT:YTHDC2:Val810Ile	PROT:Q9H6S0	YTHDC2	V	810	I	V810I	Likely benign	0	1	32	135
MUT:YY1:Arg371His	PROT:P25490	YY1	R	371	H	R371H	Likely pathogenic	1	1	22	6
MUT:YY1:Arg375Gln	PROT:P25490	YY1	R	375	Q	R375Q	Pathogenic/Likely pathogenic	1	1	22	3
MUT:YY1:Asn369Ser	PROT:P25490	YY1	N	369	S	N369S	Pathogenic/Likely pathogenic	1	2	22	4
MUT:YY1:Asp380Tyr	PROT:P25490	YY1	D	380	Y	D380Y	Pathogenic	1	1	22	2
MUT:YY1:Cys327Tyr	PROT:P25490	YY1	C	327	Y	C327Y	Pathogenic	1	1	22	5
MUT:YY1:Gly163Ser	PROT:P25490	YY1	G	163	S	G163S	Likely benign	0	1	22	20
MUT:YY1:Gly176Asp	PROT:P25490	YY1	G	176	D	G176D	Likely pathogenic	1	1	22	7
MUT:YY1:Gly191Ala	PROT:P25490	YY1	G	191	A	G191A	Benign	0	1	22	4
MUT:YY1:His373Arg	PROT:P25490	YY1	H	373	R	H373R	Likely pathogenic	1	1	22	5
MUT:YY1:Leu366Pro	PROT:P25490	YY1	L	366	P	L366P	Pathogenic	1	1	22	1
MUT:YY1:Leu366Val	PROT:P25490	YY1	L	366	V	L366V	Pathogenic	1	1	22	1
MUT:YY1:Lys339Gln	PROT:P25490	YY1	K	339	Q	K339Q	Likely pathogenic	1	1	22	0
MUT:YY1:Lys392Thr	PROT:P25490	YY1	K	392	T	K392T	Likely pathogenic	1	1	22	1
MUT:YY1:Phe353Leu	PROT:P25490	YY1	F	353	L	F353L	Likely pathogenic	1	1	22	2
MUT:YY1:Phe368Leu	PROT:P25490	YY1	F	368	L	F368L	Likely pathogenic	1	1	22	3
MUT:YY1:Thr348Ile	PROT:P25490	YY1	T	348	I	T348I	Likely pathogenic	1	1	22	0
MUT:YY1:Thr378Ser	PROT:P25490	YY1	T	378	S	T378S	Likely pathogenic	1	1	22	0
MUT:YY1:Thr398Ala	PROT:P25490	YY1	T	398	A	T398A	Likely pathogenic	1	1	22	5
MUT:YY1:Val346Phe	PROT:P25490	YY1	V	346	F	V346F	Likely pathogenic	1	1	22	2
MUT:YY1:Val374Gly	PROT:P25490	YY1	V	374	G	V374G	Likely pathogenic	1	1	22	4
MUT:YY1:Val384Met	PROT:P25490	YY1	V	384	M	V384M	Likely pathogenic	1	1	22	1
MUT:YY1AP1:Ala485Thr	PROT:Q9H869	YY1AP1	A	485	T	A485T	Likely benign	0	1	21	6
MUT:YY1AP1:Ala58Val	PROT:Q9H869	YY1AP1	A	58	V	A58V	Likely benign	0	1	21	74
MUT:YY1AP1:Arg273His	PROT:Q9H869	YY1AP1	R	273	H	R273H	Likely benign	0	1	21	14
MUT:YY1AP1:Arg343Gln	PROT:Q9H869	YY1AP1	R	343	Q	R343Q	Likely benign	0	1	21	17
MUT:YY1AP1:Asn125Ser	PROT:Q9H869	YY1AP1	N	125	S	N125S	Likely benign	0	1	21	7
MUT:YY1AP1:Asn578Ser	PROT:Q9H869	YY1AP1	N	578	S	N578S	Likely benign	0	1	21	11
MUT:YY1AP1:Asp397Asn	PROT:Q9H869	YY1AP1	D	397	N	D397N	Likely benign	0	1	21	19
MUT:YY1AP1:Asp647Asn	PROT:Q9H869	YY1AP1	D	647	N	D647N	Likely benign	0	1	21	58
MUT:YY1AP1:Asp647Glu	PROT:Q9H869	YY1AP1	D	647	E	D647E	Likely benign	0	1	21	58
MUT:YY1AP1:Ile57Thr	PROT:Q9H869	YY1AP1	I	57	T	I57T	Likely benign	0	1	21	75
MUT:YY1AP1:Lys401Arg	PROT:Q9H869	YY1AP1	K	401	R	K401R	Likely benign	0	1	21	23
MUT:YY1AP1:Met355Val	PROT:Q9H869	YY1AP1	M	355	V	M355V	Likely benign	0	1	21	23
MUT:YY1AP1:Met637Val	PROT:Q9H869	YY1AP1	M	637	V	M637V	Likely benign	0	1	21	48
MUT:YY1AP1:Ser727Pro	PROT:Q9H869	YY1AP1	S	727	P	S727P	Likely benign	0	1	21	3
MUT:ZBP1:Gly224Ser	PROT:Q9H171	ZBP1	G	224	S	G224S	Benign	0	17	2	88
MUT:ZBTB11:Arg382Gln	PROT:O95625	ZBTB11	R	382	Q	R382Q	Likely benign	0	1	21	111
MUT:ZBTB11:Arg52Trp	PROT:O95625	ZBTB11	R	52	W	R52W	Pathogenic	1	1	21	22
MUT:ZBTB11:Arg903His	PROT:O95625	ZBTB11	R	903	H	R903H	Pathogenic	1	1	21	86
MUT:ZBTB11:Arg912Trp	PROT:O95625	ZBTB11	R	912	W	R912W	Pathogenic	1	1	21	95
MUT:ZBTB11:His729Tyr	PROT:O95625	ZBTB11	H	729	Y	H729Y	Pathogenic	1	1	21	1
MUT:ZBTB11:His880Gln	PROT:O95625	ZBTB11	H	880	Q	H880Q	Pathogenic	1	1	21	63
MUT:ZBTB11:Ile303Phe	PROT:O95625	ZBTB11	I	303	F	I303F	Pathogenic	1	1	21	57
MUT:ZBTB11:Ser449Cys	PROT:O95625	ZBTB11	S	449	C	S449C	Likely benign	0	1	21	44
MUT:ZBTB11:Thr890Ala	PROT:O95625	ZBTB11	T	890	A	T890A	Pathogenic	1	1	21	73
MUT:ZBTB16:Thr189Ala	PROT:Q05516	ZBTB16	T	189	A	T189A	Likely benign	0	1	13	5
MUT:ZBTB16:Val358Met	PROT:Q05516	ZBTB16	V	358	M	V358M	Likely benign	0	1	13	43
MUT:ZBTB24:Ala518Thr	PROT:O43167	ZBTB24	A	518	T	A518T	Benign	0	1	11	89
MUT:ZBTB24:Arg295His	PROT:O43167	ZBTB24	R	295	H	R295H	Likely benign	0	1	11	17
MUT:ZBTB24:Asn194Ile	PROT:O43167	ZBTB24	N	194	I	N194I	Likely benign	0	2	11	20
MUT:ZBTB24:Asp558Asn	PROT:O43167	ZBTB24	D	558	N	D558N	Benign/Likely benign	0	2	11	129
MUT:ZBTB24:Cys408Gly	PROT:O43167	ZBTB24	C	408	G	C408G	Pathogenic/Likely pathogenic	1	1	11	7
MUT:ZBTB24:Glu531Asp	PROT:O43167	ZBTB24	E	531	D	E531D	Likely benign	0	1	11	102
MUT:ZBTB24:Gly486Asp	PROT:O43167	ZBTB24	G	486	D	G486D	Likely benign	0	1	11	57
MUT:ZBTB24:Gly568Ser	PROT:O43167	ZBTB24	G	568	S	G568S	Likely benign	0	1	11	139
MUT:ZBTB24:Ser226Gly	PROT:O43167	ZBTB24	S	226	G	S226G	Likely benign	0	1	11	12
MUT:ZBTB24:Ser5Leu	PROT:O43167	ZBTB24	S	5	L	S5L	Benign/Likely benign	0	1	11	121
MUT:ZBTB40:Gln785Glu	PROT:Q9NUA8	ZBTB40	Q	785	E	Q785E	Likely benign	0	1	20	2
MUT:ZBTB40:Met267Ile	PROT:Q9NUA8	ZBTB40	M	267	I	M267I	Benign	0	1	20	3
MUT:ZBTB7A:Ala136Pro	PROT:O95365	ZBTB7A	A	136	P	A136P	Likely benign	0	1	9	201
MUT:ZBTB7A:Ala175Val	PROT:O95365	ZBTB7A	A	175	V	A175V	Likely benign	0	1	9	162
MUT:ZBTB7A:Ala281Thr	PROT:O95365	ZBTB7A	A	281	T	A281T	Likely benign	0	1	9	56
MUT:ZBTB7A:Asp452Asn	PROT:O95365	ZBTB7A	D	452	N	D452N	Pathogenic	1	1	9	9
MUT:ZBTB7A:Cys384Trp	PROT:O95365	ZBTB7A	C	384	W	C384W	Pathogenic	1	1	9	12
MUT:ZBTB7A:Gly141Arg	PROT:O95365	ZBTB7A	G	141	R	G141R	Likely benign	0	1	9	196
MUT:ZBTB7A:Leu145Phe	PROT:O95365	ZBTB7A	L	145	F	L145F	Likely benign	0	1	9	192
MUT:ZBTB7A:Ser56Ile	PROT:O95365	ZBTB7A	S	56	I	S56I	Pathogenic	1	1	9	281
MUT:ZC3H14:Ser475Phe	PROT:Q6PJT7	ZC3H14	S	475	F	S475F	Likely benign	0	1	46	2
MUT:ZC3H7A:Arg493Lys	PROT:Q8IWR0	ZC3H7A	R	493	K	R493K	Likely benign	0	1	29	8
MUT:ZDBF2:Met315Ile	PROT:Q9HCK1	ZDBF2	M	315	I	M315I	Benign	0	1	23	55
MUT:ZDHHC9:Ala111Val	PROT:Q9Y397	ZDHHC9	A	111	V	A111V	Likely benign	0	1	1	16
MUT:ZDHHC9:Ala200Thr	PROT:Q9Y397	ZDHHC9	A	200	T	A200T	Likely benign	0	1	1	73
MUT:ZDHHC9:Arg148Trp	PROT:Q9Y397	ZDHHC9	R	148	W	R148W	Pathogenic/Likely pathogenic	1	2	1	21
MUT:ZDHHC9:Arg96Trp	PROT:Q9Y397	ZDHHC9	R	96	W	R96W	Pathogenic/Likely pathogenic	1	1	1	31
MUT:ZDHHC9:Asp90Asn	PROT:Q9Y397	ZDHHC9	D	90	N	D90N	Likely pathogenic	1	1	1	37
MUT:ZDHHC9:Gln118His	PROT:Q9Y397	ZDHHC9	Q	118	H	Q118H	Benign	0	1	1	9
MUT:ZDHHC9:Glu345Lys	PROT:Q9Y397	ZDHHC9	E	345	K	E345K	Benign	0	1	1	218
MUT:ZDHHC9:Leu252Val	PROT:Q9Y397	ZDHHC9	L	252	V	L252V	Likely benign	0	1	1	125
MUT:ZDHHC9:Leu322Ser	PROT:Q9Y397	ZDHHC9	L	322	S	L322S	Likely benign	0	1	1	195
MUT:ZDHHC9:Pro150Ser	PROT:Q9Y397	ZDHHC9	P	150	S	P150S	Pathogenic	1	1	1	23
MUT:ZDHHC9:Pro344Ser	PROT:Q9Y397	ZDHHC9	P	344	S	P344S	Likely benign	0	1	1	217
MUT:ZDHHC9:Ser319Asn	PROT:Q9Y397	ZDHHC9	S	319	N	S319N	Likely benign	0	1	1	192
MUT:ZDHHC9:Val29Ile	PROT:Q9Y397	ZDHHC9	V	29	I	V29I	Likely benign	0	1	1	98
MUT:ZEB2:Ala105Asp	PROT:O60315	ZEB2	A	105	D	A105D	Likely benign	0	1	46	37
MUT:ZEB2:Ala47Ser	PROT:O60315	ZEB2	A	47	S	A47S	Benign/Likely benign	0	1	46	9
MUT:ZEB2:Ala480Ser	PROT:O60315	ZEB2	A	480	S	A480S	Benign/Likely benign	0	2	46	25
MUT:ZEB2:Ala612Val	PROT:O60315	ZEB2	A	612	V	A612V	Likely benign	0	1	46	20
MUT:ZEB2:Ala633Ser	PROT:O60315	ZEB2	A	633	S	A633S	Benign	0	1	46	1
MUT:ZEB2:Ala832Thr	PROT:O60315	ZEB2	A	832	T	A832T	Benign	0	1	46	9
MUT:ZEB2:Arg11Gln	PROT:O60315	ZEB2	R	11	Q	R11Q	Benign	0	1	46	25
MUT:ZEB2:Arg169Cys	PROT:O60315	ZEB2	R	169	C	R169C	Likely benign	0	1	46	7
MUT:ZEB2:Arg233Cys	PROT:O60315	ZEB2	R	233	C	R233C	Likely benign	0	1	46	45
MUT:ZEB2:Arg560Cys	PROT:O60315	ZEB2	R	560	C	R560C	Likely benign	0	1	46	55
MUT:ZEB2:Arg81Thr	PROT:O60315	ZEB2	R	81	T	R81T	Benign	0	1	46	43
MUT:ZEB2:Arg921Gln	PROT:O60315	ZEB2	R	921	Q	R921Q	Benign/Likely benign	0	1	46	68
MUT:ZEB2:Arg957Gln	PROT:O60315	ZEB2	R	957	Q	R957Q	Likely benign	0	1	46	93
MUT:ZEB2:Asn1109Lys	PROT:O60315	ZEB2	N	1109	K	N1109K	Benign	0	1	46	6
MUT:ZEB2:Asn132Ser	PROT:O60315	ZEB2	N	132	S	N132S	Benign/Likely benign	0	2	46	10
MUT:ZEB2:Asn19Tyr	PROT:O60315	ZEB2	N	19	Y	N19Y	Benign	0	1	46	17
MUT:ZEB2:Asn27Tyr	PROT:O60315	ZEB2	N	27	Y	N27Y	Likely benign	0	1	46	9
MUT:ZEB2:Asn454Ile	PROT:O60315	ZEB2	N	454	I	N454I	Benign	0	1	46	51
MUT:ZEB2:Asn534Ile	PROT:O60315	ZEB2	N	534	I	N534I	Benign	0	1	46	29
MUT:ZEB2:Asn576Ser	PROT:O60315	ZEB2	N	576	S	N576S	Benign	0	1	46	56
MUT:ZEB2:Asn623Lys	PROT:O60315	ZEB2	N	623	K	N623K	Benign	0	1	46	9
MUT:ZEB2:Asn749Lys	PROT:O60315	ZEB2	N	749	K	N749K	Likely benign	0	1	46	8
MUT:ZEB2:Asn874Lys	PROT:O60315	ZEB2	N	874	K	N874K	Likely benign	0	1	46	21
MUT:ZEB2:Asp118Asn	PROT:O60315	ZEB2	D	118	N	D118N	Likely benign	0	1	46	24
MUT:ZEB2:Asp1192Tyr	PROT:O60315	ZEB2	D	1192	Y	D1192Y	Benign	0	1	46	11
MUT:ZEB2:Asp1204Asn	PROT:O60315	ZEB2	D	1204	N	D1204N	Likely benign	0	1	46	1
MUT:ZEB2:Asp477His	PROT:O60315	ZEB2	D	477	H	D477H	Likely benign	0	1	46	28
MUT:ZEB2:Asp546Val	PROT:O60315	ZEB2	D	546	V	D546V	Benign	0	1	46	41
MUT:ZEB2:Asp630Asn	PROT:O60315	ZEB2	D	630	N	D630N	Benign	0	1	46	2
MUT:ZEB2:Asp978Tyr	PROT:O60315	ZEB2	D	978	Y	D978Y	Likely pathogenic	1	1	46	72
MUT:ZEB2:Cys1029Tyr	PROT:O60315	ZEB2	C	1029	Y	C1029Y	Likely pathogenic	1	1	46	21
MUT:ZEB2:Cys1057Tyr	PROT:O60315	ZEB2	C	1057	Y	C1057Y	Pathogenic	1	1	46	7
MUT:ZEB2:Cys1060Arg	PROT:O60315	ZEB2	C	1060	R	C1060R	Likely pathogenic	1	1	46	10
MUT:ZEB2:Cys1060Ser	PROT:O60315	ZEB2	C	1060	S	C1060S	Pathogenic	1	1	46	10
MUT:ZEB2:Cys1081Tyr	PROT:O60315	ZEB2	C	1081	Y	C1081Y	Pathogenic	1	1	46	31
MUT:ZEB2:Cys284Tyr	PROT:O60315	ZEB2	C	284	Y	C284Y	Likely pathogenic	1	1	46	21
MUT:ZEB2:Gln1119Arg	PROT:O60315	ZEB2	Q	1119	R	Q1119R	Pathogenic	1	1	46	2
MUT:ZEB2:Gln194His	PROT:O60315	ZEB2	Q	194	H	Q194H	Benign	0	1	46	6
MUT:ZEB2:Gln497His	PROT:O60315	ZEB2	Q	497	H	Q497H	Benign	0	1	46	8
MUT:ZEB2:Gln615His	PROT:O60315	ZEB2	Q	615	H	Q615H	Likely benign	0	1	46	17
MUT:ZEB2:Glu101Lys	PROT:O60315	ZEB2	E	101	K	E101K	Likely benign	0	1	46	41
MUT:ZEB2:Glu1097Lys	PROT:O60315	ZEB2	E	1097	K	E1097K	Likely benign	0	1	46	18
MUT:ZEB2:Glu1128Asp	PROT:O60315	ZEB2	E	1128	D	E1128D	Likely benign	0	1	46	1
MUT:ZEB2:Glu668Asp	PROT:O60315	ZEB2	E	668	D	E668D	Benign/Likely benign	0	1	46	21
MUT:ZEB2:Gly1023Arg	PROT:O60315	ZEB2	G	1023	R	G1023R	Likely pathogenic	1	1	46	27
MUT:ZEB2:Gly1099Arg	PROT:O60315	ZEB2	G	1099	R	G1099R	Likely benign	0	1	46	16
MUT:ZEB2:Gly1156Cys	PROT:O60315	ZEB2	G	1156	C	G1156C	Likely benign	0	1	46	11
MUT:ZEB2:Gly1186Ala	PROT:O60315	ZEB2	G	1186	A	G1186A	Likely benign	0	1	46	17
MUT:ZEB2:Gly1186Val	PROT:O60315	ZEB2	G	1186	V	G1186V	Likely benign	0	1	46	17
MUT:ZEB2:Gly421Ala	PROT:O60315	ZEB2	G	421	A	G421A	Benign	0	1	46	44
MUT:ZEB2:Gly512Ser	PROT:O60315	ZEB2	G	512	S	G512S	Benign/Likely benign	0	1	46	7
MUT:ZEB2:Gly942Arg	PROT:O60315	ZEB2	G	942	R	G942R	Likely benign	0	1	46	89
MUT:ZEB2:Gly942Val	PROT:O60315	ZEB2	G	942	V	G942V	Likely benign	0	1	46	89
MUT:ZEB2:Gly997Val	PROT:O60315	ZEB2	G	997	V	G997V	Likely benign	0	1	46	53
MUT:ZEB2:His1040Tyr	PROT:O60315	ZEB2	H	1040	Y	H1040Y	Likely pathogenic	1	1	46	10
MUT:ZEB2:His1041Arg	PROT:O60315	ZEB2	H	1041	R	H1041R	Likely pathogenic	1	1	46	9
MUT:ZEB2:His1045Arg	PROT:O60315	ZEB2	H	1045	R	H1045R	Pathogenic	1	1	46	5
MUT:ZEB2:His1045Leu	PROT:O60315	ZEB2	H	1045	L	H1045L	Pathogenic	1	1	46	5
MUT:ZEB2:His1045Tyr	PROT:O60315	ZEB2	H	1045	Y	H1045Y	Likely pathogenic	1	1	46	5
MUT:ZEB2:His1049Arg	PROT:O60315	ZEB2	H	1049	R	H1049R	Likely pathogenic	1	1	46	1
MUT:ZEB2:His1049Pro	PROT:O60315	ZEB2	H	1049	P	H1049P	Pathogenic	1	1	46	1
MUT:ZEB2:His1073Pro	PROT:O60315	ZEB2	H	1073	P	H1073P	Likely pathogenic	1	1	46	23
MUT:ZEB2:His1073Tyr	PROT:O60315	ZEB2	H	1073	Y	H1073Y	Pathogenic	1	1	46	23
MUT:ZEB2:His1205Arg	PROT:O60315	ZEB2	H	1205	R	H1205R	Likely benign	0	1	46	2
MUT:ZEB2:His263Pro	PROT:O60315	ZEB2	H	263	P	H263P	Likely benign	0	1	46	42
MUT:ZEB2:His300Arg	PROT:O60315	ZEB2	H	300	R	H300R	Likely pathogenic	1	1	46	5
MUT:ZEB2:His300Tyr	PROT:O60315	ZEB2	H	300	Y	H300Y	Pathogenic	1	1	46	5
MUT:ZEB2:His68Arg	PROT:O60315	ZEB2	H	68	R	H68R	Benign	0	1	46	30
MUT:ZEB2:His846Arg	PROT:O60315	ZEB2	H	846	R	H846R	Benign	0	1	46	2
MUT:ZEB2:His846Gln	PROT:O60315	ZEB2	H	846	Q	H846Q	Benign	0	2	46	2
MUT:ZEB2:Ile102Phe	PROT:O60315	ZEB2	I	102	F	I102F	Benign/Likely benign	0	1	46	40
MUT:ZEB2:Ile174Val	PROT:O60315	ZEB2	I	174	V	I174V	Benign	0	1	46	10
MUT:ZEB2:Ile466Thr	PROT:O60315	ZEB2	I	466	T	I466T	Likely benign	0	1	46	39
MUT:ZEB2:Ile554Met	PROT:O60315	ZEB2	I	554	M	I554M	Likely benign	0	1	46	49
MUT:ZEB2:Ile563Thr	PROT:O60315	ZEB2	I	563	T	I563T	Benign	0	1	46	58
MUT:ZEB2:Ile739Val	PROT:O60315	ZEB2	I	739	V	I739V	Benign/Likely benign	0	2	46	2
MUT:ZEB2:Ile744Val	PROT:O60315	ZEB2	I	744	V	I744V	Benign/Likely benign	0	2	46	3
MUT:ZEB2:Leu1151Met	PROT:O60315	ZEB2	L	1151	M	L1151M	Likely benign	0	1	46	16
MUT:ZEB2:Leu388Phe	PROT:O60315	ZEB2	L	388	F	L388F	Likely benign	0	1	46	11
MUT:ZEB2:Leu426Ile	PROT:O60315	ZEB2	L	426	I	L426I	Benign/Likely benign	0	2	46	49
MUT:ZEB2:Leu636Phe	PROT:O60315	ZEB2	L	636	F	L636F	Likely benign	0	1	46	4
MUT:ZEB2:Leu966Ile	PROT:O60315	ZEB2	L	966	I	L966I	Likely benign	0	1	46	84
MUT:ZEB2:Leu966Phe	PROT:O60315	ZEB2	L	966	F	L966F	Benign	0	1	46	84
MUT:ZEB2:Lys389Gln	PROT:O60315	ZEB2	K	389	Q	K389Q	Likely pathogenic	1	1	46	12
MUT:ZEB2:Lys485Gln	PROT:O60315	ZEB2	K	485	Q	K485Q	Benign	0	1	46	20
MUT:ZEB2:Lys558Arg	PROT:O60315	ZEB2	K	558	R	K558R	Likely benign	0	1	46	53
MUT:ZEB2:Met1214Val	PROT:O60315	ZEB2	M	1214	V	M1214V	Benign/Likely benign	0	1	46	11
MUT:ZEB2:Met404Thr	PROT:O60315	ZEB2	M	404	T	M404T	Likely benign	0	1	46	27
MUT:ZEB2:Met436Val	PROT:O60315	ZEB2	M	436	V	M436V	Benign/Likely benign	0	2	46	59
MUT:ZEB2:Met443Val	PROT:O60315	ZEB2	M	443	V	M443V	Benign/Likely benign	0	1	46	62
MUT:ZEB2:Met453Lys	PROT:O60315	ZEB2	M	453	K	M453K	Likely benign	0	1	46	52
MUT:ZEB2:Met571Ile	PROT:O60315	ZEB2	M	571	I	M571I	Benign	0	1	46	61
MUT:ZEB2:Met571Val	PROT:O60315	ZEB2	M	571	V	M571V	Benign	0	1	46	61
MUT:ZEB2:Met656Val	PROT:O60315	ZEB2	M	656	V	M656V	Benign	0	1	46	9
MUT:ZEB2:Met736Val	PROT:O60315	ZEB2	M	736	V	M736V	Benign/Likely benign	0	2	46	5
MUT:ZEB2:Met935Thr	PROT:O60315	ZEB2	M	935	T	M935T	Benign/Likely benign	0	1	46	82
MUT:ZEB2:Met973Val	PROT:O60315	ZEB2	M	973	V	M973V	Likely benign	0	1	46	77
MUT:ZEB2:Met998Thr	PROT:O60315	ZEB2	M	998	T	M998T	Benign/Likely benign	0	1	46	52
MUT:ZEB2:Phe1008Cys	PROT:O60315	ZEB2	F	1008	C	F1008C	Likely pathogenic	1	1	46	42
MUT:ZEB2:Phe144Cys	PROT:O60315	ZEB2	F	144	C	F144C	Likely benign	0	1	46	2
MUT:ZEB2:Phe628Ser	PROT:O60315	ZEB2	F	628	S	F628S	Benign	0	1	46	4
MUT:ZEB2:Pro1054Ala	PROT:O60315	ZEB2	P	1054	A	P1054A	Likely pathogenic	1	1	46	4
MUT:ZEB2:Pro110Ser	PROT:O60315	ZEB2	P	110	S	P110S	Likely benign	0	1	46	32
MUT:ZEB2:Pro414Thr	PROT:O60315	ZEB2	P	414	T	P414T	Likely benign	0	1	46	37
MUT:ZEB2:Pro446Ser	PROT:O60315	ZEB2	P	446	S	P446S	Benign/Likely benign	0	1	46	59
MUT:ZEB2:Pro494Ser	PROT:O60315	ZEB2	P	494	S	P494S	Benign/Likely benign	0	2	46	11
MUT:ZEB2:Pro4Ala	PROT:O60315	ZEB2	P	4	A	P4A	Benign/Likely benign	0	2	46	32
MUT:ZEB2:Pro509Leu	PROT:O60315	ZEB2	P	509	L	P509L	Likely benign	0	1	46	4
MUT:ZEB2:Pro66Thr	PROT:O60315	ZEB2	P	66	T	P66T	Likely benign	0	1	46	28
MUT:ZEB2:Pro714Leu	PROT:O60315	ZEB2	P	714	L	P714L	Benign/Likely benign	0	2	46	7
MUT:ZEB2:Pro735Leu	PROT:O60315	ZEB2	P	735	L	P735L	Benign	0	1	46	4
MUT:ZEB2:Pro735Ser	PROT:O60315	ZEB2	P	735	S	P735S	Benign	0	1	46	4
MUT:ZEB2:Pro827Ser	PROT:O60315	ZEB2	P	827	S	P827S	Benign	0	1	46	14
MUT:ZEB2:Pro96Thr	PROT:O60315	ZEB2	P	96	T	P96T	Likely benign	0	1	46	46
MUT:ZEB2:Ser1050Trp	PROT:O60315	ZEB2	S	1050	W	S1050W	Pathogenic	1	1	46	0
MUT:ZEB2:Ser1071Pro	PROT:O60315	ZEB2	S	1071	P	S1071P	Likely pathogenic	1	1	46	21
MUT:ZEB2:Ser1189Pro	PROT:O60315	ZEB2	S	1189	P	S1189P	Benign	0	1	46	14
MUT:ZEB2:Ser170Asn	PROT:O60315	ZEB2	S	170	N	S170N	Benign	0	1	46	8
MUT:ZEB2:Ser353Tyr	PROT:O60315	ZEB2	S	353	Y	S353Y	Likely benign	0	1	46	0
MUT:ZEB2:Ser360Cys	PROT:O60315	ZEB2	S	360	C	S360C	Likely benign	0	1	46	0
MUT:ZEB2:Ser413Asn	PROT:O60315	ZEB2	S	413	N	S413N	Benign	0	1	46	36
MUT:ZEB2:Ser431Thr	PROT:O60315	ZEB2	S	431	T	S431T	Benign	0	1	46	54
MUT:ZEB2:Ser707Phe	PROT:O60315	ZEB2	S	707	F	S707F	Likely benign	0	1	46	0
MUT:ZEB2:Ser707Thr	PROT:O60315	ZEB2	S	707	T	S707T	Benign	0	1	46	0
MUT:ZEB2:Ser750Gly	PROT:O60315	ZEB2	S	750	G	S750G	Benign/Likely benign	0	1	46	9
MUT:ZEB2:Ser75Asn	PROT:O60315	ZEB2	S	75	N	S75N	Benign	0	1	46	37
MUT:ZEB2:Ser792Pro	PROT:O60315	ZEB2	S	792	P	S792P	Likely benign	0	1	46	8
MUT:ZEB2:Ser840Asn	PROT:O60315	ZEB2	S	840	N	S840N	Benign	0	1	46	1
MUT:ZEB2:Ser872Leu	PROT:O60315	ZEB2	S	872	L	S872L	Benign	0	1	46	19
MUT:ZEB2:Ser984Phe	PROT:O60315	ZEB2	S	984	F	S984F	Benign	0	1	46	66
MUT:ZEB2:Thr1104Ile	PROT:O60315	ZEB2	T	1104	I	T1104I	Likely benign	0	1	46	11
MUT:ZEB2:Thr452Ala	PROT:O60315	ZEB2	T	452	A	T452A	Benign	0	1	46	53
MUT:ZEB2:Thr522Ala	PROT:O60315	ZEB2	T	522	A	T522A	Benign	0	1	46	17
MUT:ZEB2:Thr522Ser	PROT:O60315	ZEB2	T	522	S	T522S	Likely benign	0	1	46	17
MUT:ZEB2:Thr579Ala	PROT:O60315	ZEB2	T	579	A	T579A	Benign/Likely benign	0	1	46	53
MUT:ZEB2:Thr752Arg	PROT:O60315	ZEB2	T	752	R	T752R	Benign/Likely benign	0	1	46	11
MUT:ZEB2:Thr752Met	PROT:O60315	ZEB2	T	752	M	T752M	Benign/Likely benign	0	2	46	11
MUT:ZEB2:Tyr1055Cys	PROT:O60315	ZEB2	Y	1055	C	Y1055C	Likely pathogenic	1	1	46	5
MUT:ZEB2:Tyr1070His	PROT:O60315	ZEB2	Y	1070	H	Y1070H	Likely pathogenic	1	1	46	20
MUT:ZEB2:Tyr955His	PROT:O60315	ZEB2	Y	955	H	Y955H	Benign	0	1	46	95
MUT:ZEB2:Val31Leu	PROT:O60315	ZEB2	V	31	L	V31L	Likely benign	0	1	46	5
MUT:ZEB2:Val402Ile	PROT:O60315	ZEB2	V	402	I	V402I	Benign	0	1	46	25
MUT:ZEB2:Val402Phe	PROT:O60315	ZEB2	V	402	F	V402F	Likely benign	0	1	46	25
MUT:ZEB2:Val463Ile	PROT:O60315	ZEB2	V	463	I	V463I	Likely benign	0	1	46	42
MUT:ZEB2:Val533Ala	PROT:O60315	ZEB2	V	533	A	V533A	Benign	0	1	46	28
MUT:ZEB2:Val65Met	PROT:O60315	ZEB2	V	65	M	V65M	Benign	0	1	46	27
MUT:ZFHX4:Ala1184Pro	PROT:Q86UP3	ZFHX4	A	1184	P	A1184P	Benign	0	1	10	629
MUT:ZFHX4:Ala1639Val	PROT:Q86UP3	ZFHX4	A	1639	V	A1639V	Benign	0	1	10	298
MUT:ZFHX4:Ala1977Ser	PROT:Q86UP3	ZFHX4	A	1977	S	A1977S	Benign/Likely benign	0	3	10	40
MUT:ZFHX4:Ala3388Ser	PROT:Q86UP3	ZFHX4	A	3388	S	A3388S	Likely benign	0	1	10	534
MUT:ZFHX4:Glu1776Gly	PROT:Q86UP3	ZFHX4	E	1776	G	E1776G	Benign/Likely benign	0	1	10	161
MUT:ZFHX4:Glu393Gln	PROT:Q86UP3	ZFHX4	E	393	Q	E393Q	Benign/Likely benign	0	1	10	115
MUT:ZFHX4:His1567Arg	PROT:Q86UP3	ZFHX4	H	1567	R	H1567R	Benign	0	1	10	370
MUT:ZFHX4:Ile1861Ser	PROT:Q86UP3	ZFHX4	I	1861	S	I1861S	Benign	0	1	10	76
MUT:ZFHX4:Met1649Leu	PROT:Q86UP3	ZFHX4	M	1649	L	M1649L	Likely benign	0	1	10	288
MUT:ZFHX4:Pro1273Ser	PROT:Q86UP3	ZFHX4	P	1273	S	P1273S	Benign	0	1	10	664
MUT:ZFHX4:Pro3119Thr	PROT:Q86UP3	ZFHX4	P	3119	T	P3119T	Benign	0	1	10	265
MUT:ZFHX4:Ser426Asn	PROT:Q86UP3	ZFHX4	S	426	N	S426N	Benign	0	1	10	82
MUT:ZFHX4:Thr2030Met	PROT:Q86UP3	ZFHX4	T	2030	M	T2030M	Benign	0	1	10	93
MUT:ZFHX4:Thr492Ile	PROT:Q86UP3	ZFHX4	T	492	I	T492I	Benign	0	1	10	16
MUT:ZFHX4:Tyr1491His	PROT:Q86UP3	ZFHX4	Y	1491	H	Y1491H	Likely benign	0	1	10	446
MUT:ZFHX4:Val1465Met	PROT:Q86UP3	ZFHX4	V	1465	M	V1465M	Likely benign	0	1	10	472
MUT:ZFHX4:Val66Ile	PROT:Q86UP3	ZFHX4	V	66	I	V66I	Benign	0	1	10	60
MUT:ZFHX4:Val66Leu	PROT:Q86UP3	ZFHX4	V	66	L	V66L	Benign	0	1	10	60
MUT:ZFP30:Cys244Arg	PROT:Q9Y2G7	ZFP30	C	244	R	C244R	Likely pathogenic	1	1	13	1
MUT:ZFP57:Arg164Gln	PROT:Q9NU63	ZFP57	R	164	Q	R164Q	Benign/Likely benign	0	3	2	1
MUT:ZFP57:Arg187Cys	PROT:Q9NU63	ZFP57	R	187	C	R187C	Benign	0	2	2	8
MUT:ZFP57:Arg248His	PROT:Q9NU63	ZFP57	R	248	H	R248H	Pathogenic	1	1	2	53
MUT:ZFP57:Arg313Gly	PROT:Q9NU63	ZFP57	R	313	G	R313G	Benign	0	2	2	118
MUT:ZFP57:Arg38Trp	PROT:Q9NU63	ZFP57	R	38	W	R38W	Benign/Likely benign	0	2	2	125
MUT:ZFP57:Arg426Gly	PROT:Q9NU63	ZFP57	R	426	G	R426G	Likely benign	0	1	2	231
MUT:ZFP57:Arg476Trp	PROT:Q9NU63	ZFP57	R	476	W	R476W	Likely benign	0	1	2	281
MUT:ZFP57:Asn198Ser	PROT:Q9NU63	ZFP57	N	198	S	N198S	Benign	0	5	2	3
MUT:ZFP57:Asp368Val	PROT:Q9NU63	ZFP57	D	368	V	D368V	Benign	0	1	2	173
MUT:ZFP57:Glu292Lys	PROT:Q9NU63	ZFP57	E	292	K	E292K	Likely benign	0	1	2	97
MUT:ZFP57:His277Asn	PROT:Q9NU63	ZFP57	H	277	N	H277N	Pathogenic	1	1	2	82
MUT:ZFP57:His458Asp	PROT:Q9NU63	ZFP57	H	458	D	H458D	Pathogenic	1	1	2	263
MUT:ZFP57:Thr14Met	PROT:Q9NU63	ZFP57	T	14	M	T14M	Likely benign	0	1	2	149
MUT:ZFPM2:Ala1026Val	PROT:Q8WW38	ZFPM2	A	1026	V	A1026V	Likely benign	0	1	9	12
MUT:ZFPM2:Ala1055Val	PROT:Q8WW38	ZFPM2	A	1055	V	A1055V	Benign/Likely benign	0	1	9	41
MUT:ZFPM2:Ala403Gly	PROT:Q8WW38	ZFPM2	A	403	G	A403G	Benign/Likely benign	0	1	9	31
MUT:ZFPM2:Ala426Thr	PROT:Q8WW38	ZFPM2	A	426	T	A426T	Benign/Likely benign	0	1	9	8
MUT:ZFPM2:Asp98Asn	PROT:Q8WW38	ZFPM2	D	98	N	D98N	Benign	0	3	9	163
MUT:ZFPM2:Cys64Trp	PROT:Q8WW38	ZFPM2	C	64	W	C64W	Likely pathogenic	1	1	9	197
MUT:ZFPM2:Cys64Tyr	PROT:Q8WW38	ZFPM2	C	64	Y	C64Y	Benign	0	1	9	197
MUT:ZFPM2:Gln889Glu	PROT:Q8WW38	ZFPM2	Q	889	E	Q889E	Benign/Likely benign	0	1	9	11
MUT:ZFPM2:Glu1005Gly	PROT:Q8WW38	ZFPM2	E	1005	G	E1005G	Likely benign	0	1	9	9
MUT:ZFPM2:Glu30Gly	PROT:Q8WW38	ZFPM2	E	30	G	E30G	Benign/Likely benign	0	6	9	231
MUT:ZFPM2:Glu419Lys	PROT:Q8WW38	ZFPM2	E	419	K	E419K	Benign	0	1	9	15
MUT:ZFPM2:Glu782Asp	PROT:Q8WW38	ZFPM2	E	782	D	E782D	Benign/Likely benign	0	1	9	118
MUT:ZFPM2:Gly1017Ser	PROT:Q8WW38	ZFPM2	G	1017	S	G1017S	Likely benign	0	1	9	3
MUT:ZFPM2:Gly389Ser	PROT:Q8WW38	ZFPM2	G	389	S	G389S	Likely benign	0	1	9	45
MUT:ZFPM2:Gly892Ser	PROT:Q8WW38	ZFPM2	G	892	S	G892S	Likely benign	0	1	9	8
MUT:ZFPM2:Ile227Met	PROT:Q8WW38	ZFPM2	I	227	M	I227M	Pathogenic	1	1	9	34
MUT:ZFPM2:Leu335Val	PROT:Q8WW38	ZFPM2	L	335	V	L335V	Benign	0	2	9	74
MUT:ZFPM2:Lys590Asn	PROT:Q8WW38	ZFPM2	K	590	N	K590N	Benign	0	1	9	9
MUT:ZFPM2:Lys737Glu	PROT:Q8WW38	ZFPM2	K	737	E	K737E	Pathogenic	1	1	9	156
MUT:ZFPM2:Lys834Arg	PROT:Q8WW38	ZFPM2	K	834	R	K834R	Benign	0	2	9	66
MUT:ZFPM2:Lys988Thr	PROT:Q8WW38	ZFPM2	K	988	T	K988T	Likely benign	0	2	9	2
MUT:ZFPM2:Ser210Thr	PROT:Q8WW38	ZFPM2	S	210	T	S210T	Benign/Likely benign	0	2	9	51
MUT:ZFPM2:Ser402Arg	PROT:Q8WW38	ZFPM2	S	402	R	S402R	Pathogenic	1	1	9	32
MUT:ZFPM2:Ser657Gly	PROT:Q8WW38	ZFPM2	S	657	G	S657G	Benign/Likely benign	0	2	9	76
MUT:ZFPM2:Thr556Ile	PROT:Q8WW38	ZFPM2	T	556	I	T556I	Likely benign	0	1	9	24
MUT:ZFPM2:Thr843Ala	PROT:Q8WW38	ZFPM2	T	843	A	T843A	Pathogenic	1	1	9	57
MUT:ZFPM2:Val1090Ile	PROT:Q8WW38	ZFPM2	V	1090	I	V1090I	Likely benign	0	1	9	76
MUT:ZFPM2:Val339Ile	PROT:Q8WW38	ZFPM2	V	339	I	V339I	Benign/Likely benign	0	1	9	78
MUT:ZFPM2:Val538Ile	PROT:Q8WW38	ZFPM2	V	538	I	V538I	Likely benign	0	2	9	6
MUT:ZFPM2:Val763Ile	PROT:Q8WW38	ZFPM2	V	763	I	V763I	Benign	0	1	9	137
MUT:ZFR:Ile520Thr	PROT:Q96KR1	ZFR	I	520	T	I520T	Benign	0	1	27	11
MUT:ZFR:Thr470Met	PROT:Q96KR1	ZFR	T	470	M	T470M	Likely benign	0	1	27	5
MUT:ZFR:Val461Ile	PROT:Q96KR1	ZFR	V	461	I	V461I	Benign	0	1	27	14
MUT:ZFYVE19:Gln254Lys	PROT:Q96K21	ZFYVE19	Q	254	K	Q254K	Likely benign	0	1	9	37
MUT:ZFYVE19:Met76Val	PROT:Q96K21	ZFYVE19	M	76	V	M76V	Pathogenic	1	1	9	29
MUT:ZFYVE19:Ser381Asn	PROT:Q96K21	ZFYVE19	S	381	N	S381N	Likely benign	0	1	9	27
MUT:ZFYVE27:Ala170Thr	PROT:Q5T4F4	ZFYVE27	A	170	T	A170T	Benign/Likely benign	0	2	2	75
MUT:ZFYVE27:Ala21Val	PROT:Q5T4F4	ZFYVE27	A	21	V	A21V	Benign/Likely benign	0	2	2	34
MUT:ZFYVE27:Arg114Trp	PROT:Q5T4F4	ZFYVE27	R	114	W	R114W	Likely benign	0	1	2	59
MUT:ZFYVE27:Arg142Cys	PROT:Q5T4F4	ZFYVE27	R	142	C	R142C	Benign/Likely benign	0	2	2	87
MUT:ZFYVE27:Gly138Val	PROT:Q5T4F4	ZFYVE27	G	138	V	G138V	Benign	0	2	2	83
MUT:ZFYVE27:Leu13Val	PROT:Q5T4F4	ZFYVE27	L	13	V	L13V	Likely benign	0	1	2	42
MUT:ZFYVE27:Leu80Phe	PROT:Q5T4F4	ZFYVE27	L	80	F	L80F	Benign	0	1	2	25
MUT:ZFYVE27:Pro11Leu	PROT:Q5T4F4	ZFYVE27	P	11	L	P11L	Benign	0	2	2	44
MUT:ZFYVE27:Pro27Ala	PROT:Q5T4F4	ZFYVE27	P	27	A	P27A	Benign	0	2	2	28
MUT:ZFYVE27:Val181Met	PROT:Q5T4F4	ZFYVE27	V	181	M	V181M	Likely benign	0	2	2	64
MUT:ZFYVE27:Val82Ile	PROT:Q5T4F4	ZFYVE27	V	82	I	V82I	Benign	0	2	2	27
MUT:ZHX3:Glu671Lys	PROT:Q9H4I2	ZHX3	E	671	K	E671K	Likely benign	0	1	10	37
MUT:ZHX3:Val396Ile	PROT:Q9H4I2	ZHX3	V	396	I	V396I	Benign	0	1	10	105
MUT:ZIC1:Gly400Arg	PROT:Q15915	ZIC1	G	400	R	G400R	Pathogenic	1	1	4	73
MUT:ZIC1:His373Asn	PROT:Q15915	ZIC1	H	373	N	H373N	Likely pathogenic	1	1	4	46
MUT:ZIC1:Leu377Pro	PROT:Q15915	ZIC1	L	377	P	L377P	Likely pathogenic	1	1	4	50
MUT:ZIC1:Thr414Ala	PROT:Q15915	ZIC1	T	414	A	T414A	Benign/Likely benign	0	1	4	87
MUT:ZIC3:Ala203Thr	PROT:O60481	ZIC3	A	203	T	A203T	Benign/Likely benign	0	3	3	120
MUT:ZIC3:Ala211Thr	PROT:O60481	ZIC3	A	211	T	A211T	Likely benign	0	1	3	112
MUT:ZIC3:Ala33Val	PROT:O60481	ZIC3	A	33	V	A33V	Likely benign	0	1	3	15
MUT:ZIC3:Cys253Ser	PROT:O60481	ZIC3	C	253	S	C253S	Pathogenic	1	1	3	70
MUT:ZIC3:Cys360Tyr	PROT:O60481	ZIC3	C	360	Y	C360Y	Likely pathogenic	1	1	3	7
MUT:ZIC3:Gly17Cys	PROT:O60481	ZIC3	G	17	C	G17C	Benign/Likely benign	0	2	3	1
MUT:ZIC3:Ile247Val	PROT:O60481	ZIC3	I	247	V	I247V	Benign/Likely benign	0	1	3	76
MUT:ZIC3:Lys405Glu	PROT:O60481	ZIC3	K	405	E	K405E	Pathogenic	1	1	3	52
MUT:ZIC3:Met226Leu	PROT:O60481	ZIC3	M	226	L	M226L	Benign	0	1	3	97
MUT:ZIC3:Pro217Ala	PROT:O60481	ZIC3	P	217	A	P217A	Benign/Likely benign	0	3	3	106
MUT:ZIC3:Thr323Met	PROT:O60481	ZIC3	T	323	M	T323M	Pathogenic	1	1	3	0
MUT:ZIC3:Trp255Gly	PROT:O60481	ZIC3	W	255	G	W255G	Pathogenic	1	1	3	68
MUT:ZIC3:Trp255Ser	PROT:O60481	ZIC3	W	255	S	W255S	Likely pathogenic	1	1	3	68
MUT:ZIC3:Val448Ile	PROT:O60481	ZIC3	V	448	I	V448I	Benign/Likely benign	0	1	3	95
MUT:ZMYM3:Ala189Gly	PROT:Q14202	ZMYM3	A	189	G	A189G	Likely benign	0	1	39	3
MUT:ZMYM3:Arg1294His	PROT:Q14202	ZMYM3	R	1294	H	R1294H	Likely pathogenic	1	1	39	4
MUT:ZMYM3:Asn789Lys	PROT:Q14202	ZMYM3	N	789	K	N789K	Benign	0	1	39	6
MUT:ZMYM3:Cys451Tyr	PROT:Q14202	ZMYM3	C	451	Y	C451Y	Likely pathogenic	1	1	39	6
MUT:ZMYM3:Leu1208Phe	PROT:Q14202	ZMYM3	L	1208	F	L1208F	Likely pathogenic	1	1	39	37
MUT:ZMYM3:Pro870Gln	PROT:Q14202	ZMYM3	P	870	Q	P870Q	Likely pathogenic	1	1	39	44
MUT:ZMYM3:Thr371Ala	PROT:Q14202	ZMYM3	T	371	A	T371A	Likely benign	0	1	39	51
MUT:ZMYND11:Ala2Thr	PROT:Q15326	ZMYND11	A	2	T	A2T	Likely pathogenic	1	1	11	27
MUT:ZMYND11:Arg26Trp	PROT:Q15326	ZMYND11	R	26	W	R26W	Pathogenic/Likely pathogenic	1	1	11	3
MUT:ZMYND11:Arg309His	PROT:Q15326	ZMYND11	R	309	H	R309H	Likely pathogenic	1	2	11	94
MUT:ZMYND11:Arg36His	PROT:Q15326	ZMYND11	R	36	H	R36H	Likely pathogenic	1	1	11	7
MUT:ZMYND11:Arg600Trp	PROT:Q15326	ZMYND11	R	600	W	R600W	Pathogenic/Likely pathogenic	1	4	11	100
MUT:ZMYND11:Cys574Gly	PROT:Q15326	ZMYND11	C	574	G	C574G	Likely pathogenic	1	1	11	74
MUT:ZMYND11:Cys575Tyr	PROT:Q15326	ZMYND11	C	575	Y	C575Y	Likely pathogenic	1	1	11	75
MUT:ZMYND11:Cys598Ser	PROT:Q15326	ZMYND11	C	598	S	C598S	Likely pathogenic	1	1	11	98
MUT:ZMYND11:Cys598Tyr	PROT:Q15326	ZMYND11	C	598	Y	C598Y	Likely pathogenic	1	1	11	98
MUT:ZMYND11:His336Gln	PROT:Q15326	ZMYND11	H	336	Q	H336Q	Benign	0	1	11	67
MUT:ZMYND11:Ser419Arg	PROT:Q15326	ZMYND11	S	419	R	S419R	Likely pathogenic	1	1	11	1
MUT:ZMYND11:Ser421Asn	PROT:Q15326	ZMYND11	S	421	N	S421N	Likely pathogenic	1	2	11	0
MUT:ZMYND11:Ser465Asn	PROT:Q15326	ZMYND11	S	465	N	S465N	Benign/Likely benign	0	1	11	5
MUT:ZMYND11:Trp562Ser	PROT:Q15326	ZMYND11	W	562	S	W562S	Likely pathogenic	1	1	11	62
MUT:ZMYND8:Ser1208Leu	PROT:Q9ULU4	ZMYND8	S	1208	L	S1208L	Likely benign	0	1	56	64
MUT:ZNF141:Ala46Thr	PROT:Q15928	ZNF141	A	46	T	A46T	Benign	0	1	12	200
MUT:ZNF141:Gln350Arg	PROT:Q15928	ZNF141	Q	350	R	Q350R	Likely benign	0	1	12	12
MUT:ZNF141:Gly129Asp	PROT:Q15928	ZNF141	G	129	D	G129D	Benign/Likely benign	0	1	12	117
MUT:ZNF141:Lys353Asn	PROT:Q15928	ZNF141	K	353	N	K353N	Benign	0	1	12	9
MUT:ZNF141:Lys353Ile	PROT:Q15928	ZNF141	K	353	I	K353I	Benign	0	1	12	9
MUT:ZNF141:Lys69Asn	PROT:Q15928	ZNF141	K	69	N	K69N	Benign	0	1	12	177
MUT:ZNF141:Thr474Ile	PROT:Q15928	ZNF141	T	474	I	T474I	Pathogenic/Likely pathogenic	1	1	12	56
MUT:ZNF141:Val71Ala	PROT:Q15928	ZNF141	V	71	A	V71A	Benign	0	1	12	175
MUT:ZNF148:Ala381Val	PROT:Q9UQR1	ZNF148	A	381	V	A381V	Likely benign	0	1	29	19
MUT:ZNF148:Asp282Gly	PROT:Q9UQR1	ZNF148	D	282	G	D282G	Likely pathogenic	1	1	29	24
MUT:ZNF148:Gln48His	PROT:Q9UQR1	ZNF148	Q	48	H	Q48H	Likely benign	0	1	29	3
MUT:ZNF148:Gly40Ala	PROT:Q9UQR1	ZNF148	G	40	A	G40A	Likely benign	0	2	29	11
MUT:ZNF148:Gly588Glu	PROT:Q9UQR1	ZNF148	G	588	E	G588E	Likely benign	0	1	29	55
MUT:ZNF148:His245Arg	PROT:Q9UQR1	ZNF148	H	245	R	H245R	Likely pathogenic	1	1	29	5
MUT:ZNF148:Met234Ile	PROT:Q9UQR1	ZNF148	M	234	I	M234I	Pathogenic	1	1	29	5
MUT:ZNF148:Thr320Met	PROT:Q9UQR1	ZNF148	T	320	M	T320M	Likely benign	0	1	29	14
MUT:ZNF148:Val587Ala	PROT:Q9UQR1	ZNF148	V	587	A	V587A	Likely benign	0	1	29	54
MUT:ZNF185:Gly451Arg	PROT:O15231	ZNF185	G	451	R	G451R	Likely benign	0	1	23	6
MUT:ZNF195:Asn109Ser	PROT:O14628	ZNF195	N	109	S	N109S	Likely benign	0	1	27	105
MUT:ZNF248:Val88Met	PROT:Q8NDW4	ZNF248	V	88	M	V88M	Likely benign	0	1	6	33
MUT:ZNF264:Val486Met	PROT:O43296	ZNF264	V	486	M	V486M	Likely benign	0	1	19	3
MUT:ZNF268:Gly660Glu	PROT:Q14587	ZNF268	G	660	E	G660E	Likely benign	0	1	3	87
MUT:ZNF268:Leu679Phe	PROT:Q14587	ZNF268	L	679	F	L679F	Benign	0	3	3	68
MUT:ZNF335:Ala1201Thr	PROT:Q9H4Z2	ZNF335	A	1201	T	A1201T	Likely benign	0	1	7	74
MUT:ZNF335:Ala276Thr	PROT:Q9H4Z2	ZNF335	A	276	T	A276T	Benign/Likely benign	0	1	7	13
MUT:ZNF335:Ala423Thr	PROT:Q9H4Z2	ZNF335	A	423	T	A423T	Likely benign	0	1	7	5
MUT:ZNF335:Ala738Val	PROT:Q9H4Z2	ZNF335	A	738	V	A738V	Likely benign	0	1	7	93
MUT:ZNF335:Arg1111His	PROT:Q9H4Z2	ZNF335	R	1111	H	R1111H	Likely pathogenic	1	1	7	16
MUT:ZNF335:Arg1111Leu	PROT:Q9H4Z2	ZNF335	R	1111	L	R1111L	Pathogenic	1	1	7	16
MUT:ZNF335:Asp865Glu	PROT:Q9H4Z2	ZNF335	D	865	E	D865E	Benign	0	1	7	111
MUT:ZNF335:Cys467Arg	PROT:Q9H4Z2	ZNF335	C	467	R	C467R	Pathogenic	1	1	7	49
MUT:ZNF335:Cys982Arg	PROT:Q9H4Z2	ZNF335	C	982	R	C982R	Likely benign	0	1	7	2
MUT:ZNF335:Gln1143Arg	PROT:Q9H4Z2	ZNF335	Q	1143	R	Q1143R	Likely benign	0	1	7	16
MUT:ZNF335:Glu858Lys	PROT:Q9H4Z2	ZNF335	E	858	K	E858K	Benign	0	1	7	118
MUT:ZNF335:Gly854Ser	PROT:Q9H4Z2	ZNF335	G	854	S	G854S	Likely benign	0	1	7	122
MUT:ZNF335:His487Arg	PROT:Q9H4Z2	ZNF335	H	487	R	H487R	Likely pathogenic	1	1	7	69
MUT:ZNF335:Ile752Val	PROT:Q9H4Z2	ZNF335	I	752	V	I752V	Likely benign	0	1	7	107
MUT:ZNF335:Phe723Val	PROT:Q9H4Z2	ZNF335	F	723	V	F723V	Benign/Likely benign	0	2	7	78
MUT:ZNF335:Pro1267Gln	PROT:Q9H4Z2	ZNF335	P	1267	Q	P1267Q	Benign/Likely benign	0	2	7	140
MUT:ZNF335:Pro834Ser	PROT:Q9H4Z2	ZNF335	P	834	S	P834S	Benign/Likely benign	0	2	7	142
MUT:ZNF335:Ser110Ile	PROT:Q9H4Z2	ZNF335	S	110	I	S110I	Benign	0	1	7	179
MUT:ZNF335:Ser294Thr	PROT:Q9H4Z2	ZNF335	S	294	T	S294T	Benign	0	1	7	5
MUT:ZNF335:Thr409Ala	PROT:Q9H4Z2	ZNF335	T	409	A	T409A	Likely benign	0	1	7	7
MUT:ZNF335:Thr996Ala	PROT:Q9H4Z2	ZNF335	T	996	A	T996A	Benign/Likely benign	0	1	7	16
MUT:ZNF335:Tyr502Cys	PROT:Q9H4Z2	ZNF335	Y	502	C	Y502C	Likely pathogenic	1	1	7	84
MUT:ZNF335:Val35Leu	PROT:Q9H4Z2	ZNF335	V	35	L	V35L	Benign/Likely benign	0	2	7	254
MUT:ZNF335:Val983Ile	PROT:Q9H4Z2	ZNF335	V	983	I	V983I	Likely benign	0	1	7	3
MUT:ZNF341:Ala808Val	PROT:Q9BYN7	ZNF341	A	808	V	A808V	Benign	0	1	2	507
MUT:ZNF341:Ala82Thr	PROT:Q9BYN7	ZNF341	A	82	T	A82T	Benign/Likely benign	0	1	2	216
MUT:ZNF341:Arg386Gln	PROT:Q9BYN7	ZNF341	R	386	Q	R386Q	Benign/Likely benign	0	1	2	85
MUT:ZNF341:Arg722Cys	PROT:Q9BYN7	ZNF341	R	722	C	R722C	Likely benign	0	1	2	421
MUT:ZNF341:Cys352Arg	PROT:Q9BYN7	ZNF341	C	352	R	C352R	Likely pathogenic	1	1	2	51
MUT:ZNF341:Glu50Asp	PROT:Q9BYN7	ZNF341	E	50	D	E50D	Benign	0	1	2	248
MUT:ZNF341:Pro160Leu	PROT:Q9BYN7	ZNF341	P	160	L	P160L	Benign	0	1	2	138
MUT:ZNF341:Pro185Ser	PROT:Q9BYN7	ZNF341	P	185	S	P185S	Benign/Likely benign	0	2	2	113
MUT:ZNF341:Thr483Met	PROT:Q9BYN7	ZNF341	T	483	M	T483M	Benign	0	1	2	182
MUT:ZNF341:Thr813Pro	PROT:Q9BYN7	ZNF341	T	813	P	T813P	Benign/Likely benign	0	1	2	512
MUT:ZNF383:Lys91Met	PROT:Q8NA42	ZNF383	K	91	M	K91M	Likely benign	0	1	4	214
MUT:ZNF418:Thr586Ile	PROT:Q8TF45	ZNF418	T	586	I	T586I	Likely pathogenic	1	1	2	351
MUT:ZNF41:Ala666Val	PROT:P51814	ZNF41	A	666	V	A666V	Benign	0	1	8	33
MUT:ZNF41:Asp315Glu	PROT:P51814	ZNF41	D	315	E	D315E	Benign	0	1	8	53
MUT:ZNF41:His226Leu	PROT:P51814	ZNF41	H	226	L	H226L	Benign	0	1	8	142
MUT:ZNF41:Lys197Arg	PROT:P51814	ZNF41	K	197	R	K197R	Benign	0	1	8	171
MUT:ZNF423:Ala1055Val	PROT:Q2M1K9	ZNF423	A	1055	V	A1055V	Benign/Likely benign	0	7	11	1
MUT:ZNF423:Ala1121Thr	PROT:Q2M1K9	ZNF423	A	1121	T	A1121T	Benign/Likely benign	0	1	11	26
MUT:ZNF423:Asn637Ser	PROT:Q2M1K9	ZNF423	N	637	S	N637S	Benign	0	1	11	23
MUT:ZNF423:Gln1292Pro	PROT:Q2M1K9	ZNF423	Q	1292	P	Q1292P	Likely benign	0	2	11	132
MUT:ZNF423:Gly521Ser	PROT:Q2M1K9	ZNF423	G	521	S	G521S	Likely benign	0	1	11	78
MUT:ZNF423:Gly852Glu	PROT:Q2M1K9	ZNF423	G	852	E	G852E	Likely pathogenic	1	2	11	202
MUT:ZNF423:His1285Tyr	PROT:Q2M1K9	ZNF423	H	1285	Y	H1285Y	Pathogenic	1	1	11	125
MUT:ZNF423:Leu1076Met	PROT:Q2M1K9	ZNF423	L	1076	M	L1076M	Benign	0	1	11	22
MUT:ZNF512B:Ala408Thr	PROT:Q96KM6	ZNF512B	A	408	T	A408T	Benign	0	1	10	149
MUT:ZNF512B:Ala453Thr	PROT:Q96KM6	ZNF512B	A	453	T	A453T	Benign	0	1	10	194
MUT:ZNF512B:Ala778Ser	PROT:Q96KM6	ZNF512B	A	778	S	A778S	Likely benign	0	1	10	74
MUT:ZNF512B:Arg178Gly	PROT:Q96KM6	ZNF512B	R	178	G	R178G	Likely benign	0	1	10	1
MUT:ZNF512B:Met372Val	PROT:Q96KM6	ZNF512B	M	372	V	M372V	Benign	0	1	10	113
MUT:ZNF512B:Val288Met	PROT:Q96KM6	ZNF512B	V	288	M	V288M	Benign	0	1	10	29
MUT:ZNF532:Ala1086Ser	PROT:Q9HCE3	ZNF532	A	1086	S	A1086S	Likely benign	0	1	23	54
MUT:ZNF589:Arg292Cys	PROT:Q86UQ0	ZNF589	R	292	C	R292C	Likely benign	0	1	1	102
MUT:ZNF589:Thr12Ala	PROT:Q86UQ0	ZNF589	T	12	A	T12A	Benign	0	1	1	178
MUT:ZNF589:Thr216Arg	PROT:Q86UQ0	ZNF589	T	216	R	T216R	Benign	0	1	1	26
MUT:ZNF592:Gln853His	PROT:Q92610	ZNF592	Q	853	H	Q853H	Likely benign	0	1	36	162
MUT:ZNF592:Leu127Met	PROT:Q92610	ZNF592	L	127	M	L127M	Benign	0	1	36	10
MUT:ZNF592:Ser926Asn	PROT:Q92610	ZNF592	S	926	N	S926N	Benign	0	1	36	98
MUT:ZNF687:Gly259Glu	PROT:Q8N1G0	ZNF687	G	259	E	G259E	Benign	0	1	29	6
MUT:ZNF687:Ser242Ile	PROT:Q8N1G0	ZNF687	S	242	I	S242I	Pathogenic	1	1	29	0
MUT:ZNF699:Phe89Cys	PROT:Q32M78	ZNF699	F	89	C	F89C	Likely benign	0	1	9	33
MUT:ZNF699:Pro61Leu	PROT:Q32M78	ZNF699	P	61	L	P61L	Likely benign	0	1	9	61
MUT:ZNF699:Ser142Tyr	PROT:Q32M78	ZNF699	S	142	Y	S142Y	Likely benign	0	1	9	20
MUT:ZNF711:Ala18Val	PROT:Q9Y462	ZNF711	A	18	V	A18V	Likely benign	0	1	21	6
MUT:ZNF711:Ala277Thr	PROT:Q9Y462	ZNF711	A	277	T	A277T	Benign/Likely benign	0	1	21	12
MUT:ZNF711:His274Arg	PROT:Q9Y462	ZNF711	H	274	R	H274R	Likely benign	0	1	21	15
MUT:ZNF711:Ile112Met	PROT:Q9Y462	ZNF711	I	112	M	I112M	Benign	0	1	21	88
MUT:ZNF711:Ile244Thr	PROT:Q9Y462	ZNF711	I	244	T	I244T	Likely pathogenic	1	2	21	9
MUT:ZNF711:Lys403Arg	PROT:Q9Y462	ZNF711	K	403	R	K403R	Likely benign	0	1	21	23
MUT:ZNF711:Lys490Gln	PROT:Q9Y462	ZNF711	K	490	Q	K490Q	Likely benign	0	1	21	10
MUT:ZNF711:Met456Ile	PROT:Q9Y462	ZNF711	M	456	I	M456I	Benign/Likely benign	0	1	21	3
MUT:ZNF711:Thr745Ile	PROT:Q9Y462	ZNF711	T	745	I	T745I	Likely benign	0	2	21	1
MUT:ZNF75D:Cys367Tyr	PROT:P51815	ZNF75D	C	367	Y	C367Y	Benign	0	1	1	21
MUT:ZNF804A:Ala1108Thr	PROT:Q7Z570	ZNF804A	A	1108	T	A1108T	Benign	0	1	4	469
MUT:ZNF804A:Arg124Lys	PROT:Q7Z570	ZNF804A	R	124	K	R124K	Likely benign	0	1	4	66
MUT:ZNF804A:Asn759Asp	PROT:Q7Z570	ZNF804A	N	759	D	N759D	Benign	0	1	4	120
MUT:ZNF804A:Asp479Gly	PROT:Q7Z570	ZNF804A	D	479	G	D479G	Benign	0	1	4	77
MUT:ZNF804A:Cys325Phe	PROT:Q7Z570	ZNF804A	C	325	F	C325F	Likely benign	0	1	4	51
MUT:ZNF804A:Glu542Lys	PROT:Q7Z570	ZNF804A	E	542	K	E542K	Benign	0	1	4	97
MUT:ZNF804A:Gly545Ser	PROT:Q7Z570	ZNF804A	G	545	S	G545S	Benign	0	1	4	94
MUT:ZNF804A:Ile492Val	PROT:Q7Z570	ZNF804A	I	492	V	I492V	Benign	0	1	4	90
MUT:ZNF804A:Leu1081Val	PROT:Q7Z570	ZNF804A	L	1081	V	L1081V	Benign	0	1	4	442
MUT:ZNF804A:Lys178Glu	PROT:Q7Z570	ZNF804A	K	178	E	K178E	Likely benign	0	1	4	120
MUT:ZNF804A:Ser1013Cys	PROT:Q7Z570	ZNF804A	S	1013	C	S1013C	Likely benign	0	1	4	374
MUT:ZNF804A:Thr707Lys	PROT:Q7Z570	ZNF804A	T	707	K	T707K	Benign	0	1	4	68
MUT:ZNF81:Ala3Val	PROT:P51508	ZNF81	A	3	V	A3V	Benign	0	1	5	217
MUT:ZNF81:His201Leu	PROT:P51508	ZNF81	H	201	L	H201L	Likely benign	0	1	5	19
MUT:ZNF81:Ile139Met	PROT:P51508	ZNF81	I	139	M	I139M	Benign	0	1	5	81
MUT:ZNF81:Leu184Val	PROT:P51508	ZNF81	L	184	V	L184V	Likely benign	0	2	5	36
MUT:ZNF91:Glu374Gly	PROT:Q05481	ZNF91	E	374	G	E374G	Likely benign	0	1	63	5
MUT:ZP1:Ala131Thr	PROT:P60852	ZP1	A	131	T	A131T	Likely benign	0	1	1	1
MUT:ZP1:Arg109His	PROT:P60852	ZP1	R	109	H	R109H	Likely pathogenic	1	1	1	23
MUT:ZP1:Arg124His	PROT:P60852	ZP1	R	124	H	R124H	Likely benign	0	1	1	8
MUT:ZP1:Asp107Asn	PROT:P60852	ZP1	D	107	N	D107N	Benign	0	1	1	25
MUT:ZP1:Gln553Arg	PROT:P60852	ZP1	Q	553	R	Q553R	Likely benign	0	1	1	421
MUT:ZP1:Met294Val	PROT:P60852	ZP1	M	294	V	M294V	Likely benign	0	1	1	162
MUT:ZP1:Val287Ile	PROT:P60852	ZP1	V	287	I	V287I	Likely benign	0	1	1	155
MUT:ZP1:Val570Met	PROT:P60852	ZP1	V	570	M	V570M	Pathogenic	1	1	1	438
MUT:ZP3:Ala134Thr	PROT:P21754	ZP3	A	134	T	A134T	Pathogenic/Likely pathogenic	1	3	3	51
MUT:ZP3:Arg255Gly	PROT:P21754	ZP3	R	255	G	R255G	Pathogenic	1	1	3	43
MUT:ZP3:Gly243Ser	PROT:P21754	ZP3	G	243	S	G243S	Benign	0	2	3	55
MUT:ZP3:Gly31Arg	PROT:P21754	ZP3	G	31	R	G31R	Benign	0	1	3	33
MUT:ZPR1:Ile196Thr	PROT:O75312	ZPR1	I	196	T	I196T	Pathogenic	1	1	2	77
MUT:ZSCAN29:Gly837Arg	PROT:Q8IWY8	ZSCAN29	G	837	R	G837R	Likely benign	0	1	7	232
MUT:ZSCAN29:Phe660Cys	PROT:Q8IWY8	ZSCAN29	F	660	C	F660C	Likely benign	0	1	7	55
MUT:ZSWIM6:Arg1040His	PROT:Q9HCJ5	ZSWIM6	R	1040	H	R1040H	Benign/Likely benign	0	1	1	315
MUT:ZSWIM6:Arg1163Trp	PROT:Q9HCJ5	ZSWIM6	R	1163	W	R1163W	Pathogenic/Likely pathogenic	1	1	1	438
MUT:ZSWIM6:Arg577Cys	PROT:Q9HCJ5	ZSWIM6	R	577	C	R577C	Benign/Likely benign	0	1	1	148
MUT:ZSWIM6:Arg717Gln	PROT:Q9HCJ5	ZSWIM6	R	717	Q	R717Q	Likely benign	0	1	1	8
MUT:ZSWIM6:Asn819Ser	PROT:Q9HCJ5	ZSWIM6	N	819	S	N819S	Likely benign	0	1	1	94
MUT:ZSWIM6:Glu857Lys	PROT:Q9HCJ5	ZSWIM6	E	857	K	E857K	Likely benign	0	1	1	132
MUT:ZSWIM6:Gly26Cys	PROT:Q9HCJ5	ZSWIM6	G	26	C	G26C	Likely benign	0	1	1	699
MUT:ZSWIM6:Ser28Asn	PROT:Q9HCJ5	ZSWIM6	S	28	N	S28N	Likely benign	0	1	1	697
MUT:ZSWIM6:Val636Met	PROT:Q9HCJ5	ZSWIM6	V	636	M	V636M	Benign/Likely benign	0	2	1	89
MUT:ZSWIM6:Val930Ile	PROT:Q9HCJ5	ZSWIM6	V	930	I	V930I	Benign/Likely benign	0	1	1	205