Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.65402517T>A	CA3877857	EYS	c.1145A>T (p.Asn382Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402517T>C	CA3877858	EYS	c.1145A>G (p.Asn382Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402517T>G	CA364662336	EYS	c.1145A>C (p.Asn382Thr)
6	g.65402517T=	CA1634216012	EYS	c.1145A= (p.Asn382=)
6	g.65402518T>A	CA364662338	EYS	c.1144A>T (p.Asn382Tyr)	gnomAD v4
6	g.65402518T>C	CA364662339	EYS	c.1144A>G (p.Asn382Asp)	gnomAD v4
6	g.65402518T>G	CA364662337	EYS	c.1144A>C (p.Asn382His)
6	g.65402519A=	CA1634216016	EYS	c.1143T= (p.Asn381=)
6	g.65402519A>C	CA364662341	EYS	c.1143T>G (p.Asn381Lys)
6	g.65402519A>G	CA450707786	EYS	c.1143T>C (p.Asn381=)	gnomAD v4
6	g.65402519A>T	CA364662340	EYS	c.1143T>A (p.Asn381Lys)	dbSNP
6	g.65402520T>A	CA364662342	EYS	c.1142A>T (p.Asn381Ile)	dbSNP
6	g.65402520T>C	CA364662343	EYS	c.1142A>G (p.Asn381Ser)
6	g.65402520T>G	CA364662344	EYS	c.1142A>C (p.Asn381Thr)	gnomAD v4
6	g.65402520T=	CA1634216019	EYS	c.1142A= (p.Asn381=)
6	g.65402521T>A	CA364662345	EYS	c.1141A>T (p.Asn381Tyr)
6	g.65402521T>C	CA364662346	EYS	c.1141A>G (p.Asn381Asp)	gnomAD v4
6	g.65402521T>G	CA364662347	EYS	c.1141A>C (p.Asn381His)
6	g.65402522C>A	CA364662348	EYS	c.1140G>T (p.Arg380Ser)
6	g.65402522C>G	CA364662349	EYS	c.1140G>C (p.Arg380Ser)
6	g.65402522C>T	CA450707787	EYS	c.1140G>A (p.Arg380=)
6	g.65402523C>A	CA364662350	EYS	c.1139G>T (p.Arg380Met)
6	g.65402523C>G	CA364662351	EYS	c.1139G>C (p.Arg380Thr)	gnomAD v4
6	g.65402523C>T	CA364662352	EYS	c.1139G>A (p.Arg380Lys)
6	g.65402524T>A	CA364662353	EYS	c.1138A>T (p.Arg380Trp)
6	g.65402524T>C	CA364662354	EYS	c.1138A>G (p.Arg380Gly)	gnomAD v4
6	g.65402524T>G	CA450707788	EYS	c.1138A>C (p.Arg380=)
6	g.65402525C>A	CA364662355	EYS	c.1137G>T (p.Leu379Phe)	gnomAD v4
6	g.65402525C=	CA1634216021	EYS	c.1137G= (p.Leu379=)
6	g.65402525C>G	CA3877859	EYS	c.1137G>C (p.Leu379Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402525C>T	CA450707789	EYS	c.1137G>A (p.Leu379=)	gnomAD v4
6	g.65402526A>C	CA364662356	EYS	c.1136T>G (p.Leu379Trp)
6	g.65402526A>G	CA364662357	EYS	c.1136T>C (p.Leu379Ser)
6	g.65402526A>T	CA364662358	EYS	c.1136T>A (p.Leu379Ter)
6	g.65402528del	CA2679289089	EYS	c.1136del (p.Leu379Ter)	gnomAD v4
6	g.65402527A=	CA1634216023	EYS	c.1135T= (p.Leu379=)
6	g.65402527A>C	CA364662359	EYS	c.1135T>G (p.Leu379Val)
6	g.65402527A>G	CA3877860	EYS	c.1135T>C (p.Leu379=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402527A>T	CA364662360	EYS	c.1135T>A (p.Leu379Met)
6	g.65402528A>C	CA450707792	EYS	c.1134T>G (p.Pro378=)
6	g.65402528A>G	CA450707791	EYS	c.1134T>C (p.Pro378=)	ClinVar dbSNP gnomAD v4
6	g.65402528A>T	CA450707790	EYS	c.1134T>A (p.Pro378=)
6	g.65402529G>A	CA364662361	EYS	c.1133C>T (p.Pro378Leu)	gnomAD v4 COSMIC COSMIC
6	g.65402529G>C	CA364662362	EYS	c.1133C>G (p.Pro378Arg)
6	g.65402529G>T	CA364662363	EYS	c.1133C>A (p.Pro378His)
6	g.65402530G>A	CA364662364	EYS	c.1132C>T (p.Pro378Ser)
6	g.65402530G>C	CA3877861	EYS	c.1132C>G (p.Pro378Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402530G=	CA1634216027	EYS	c.1132C= (p.Pro378=)
6	g.65402530G>T	CA364662365	EYS	c.1132C>A (p.Pro378Thr)	gnomAD v4
6	g.65402531A>C	CA364662366	EYS	c.1131T>G (p.Phe377Leu)
6	g.65402531A>G	CA450707793	EYS	c.1131T>C (p.Phe377=)	gnomAD v4
6	g.65402531A>T	CA364662367	EYS	c.1131T>A (p.Phe377Leu)
6	g.65402533del	CA2679289090	EYS	c.1131del (p.Pro378LeufsTer2)	gnomAD v4
6	g.65402532A>C	CA364662368	EYS	c.1130T>G (p.Phe377Cys)
6	g.65402532A>G	CA364662369	EYS	c.1130T>C (p.Phe377Ser)
6	g.65402532A>T	CA364662370	EYS	c.1130T>A (p.Phe377Tyr)
6	g.65402533A>C	CA364662371	EYS	c.1129T>G (p.Phe377Val)
6	g.65402533A>G	CA364662372	EYS	c.1129T>C (p.Phe377Leu)	ClinVar gnomAD v4
6	g.65402533A>T	CA364662373	EYS	c.1129T>A (p.Phe377Ile)
6	g.65402534T>A	CA450707794	EYS	c.1128A>T (p.Ser376=)
6	g.65402534T>C	CA450707796	EYS	c.1128A>G (p.Ser376=)
6	g.65402534T>G	CA450707795	EYS	c.1128A>C (p.Ser376=)
6	g.65402535G>A	CA364662376	EYS	c.1127C>T (p.Ser376Leu)	COSMIC COSMIC
6	g.65402535G>C	CA364662374	EYS	c.1127C>G (p.Ser376Ter)	gnomAD v4
6	g.65402535G>T	CA364662375	EYS	c.1127C>A (p.Ser376Ter)	gnomAD v4
6	g.65402536A>C	CA364662377	EYS	c.1126T>G (p.Ser376Ala)
6	g.65402536A>G	CA364662378	EYS	c.1126T>C (p.Ser376Pro)
6	g.65402536A>T	CA364662379	EYS	c.1126T>A (p.Ser376Thr)	ClinVar dbSNP
6	g.65402537C>A	CA364662380	EYS	c.1125G>T (p.Glu375Asp)	gnomAD v4
6	g.65402537C>G	CA364662381	EYS	c.1125G>C (p.Glu375Asp)	gnomAD v4 COSMIC COSMIC
6	g.65402537C>T	CA450707797	EYS	c.1125G>A (p.Glu375=)	gnomAD v4
6	g.65402538T>A	CA364662382	EYS	c.1124A>T (p.Glu375Val)
6	g.65402538T>C	CA364662383	EYS	c.1124A>G (p.Glu375Gly)
6	g.65402538T>G	CA139845044	EYS	c.1124A>C (p.Glu375Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402538T=	CA1634216032	EYS	c.1124A= (p.Glu375=)
6	g.65402539C>A	CA364662384	EYS	c.1123G>T (p.Glu375Ter)	ClinVar
6	g.65402539C>G	CA364662385	EYS	c.1123G>C (p.Glu375Gln)
6	g.65402539C>T	CA364662386	EYS	c.1123G>A (p.Glu375Lys)	gnomAD v4
6	g.65402539_65402540insT	CA2771499720	EYS	c.1122_1123insA (p.Glu375ArgfsTer8)
6	g.65402540A=	CA1634216035	EYS	c.1122T= (p.Cys374=)
6	g.65402540A>C	CA364662387	EYS	c.1122T>G (p.Cys374Trp)
6	g.65402540A>G	CA450707798	EYS	c.1122T>C (p.Cys374=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.65402540A>T	CA364662388	EYS	c.1122T>A (p.Cys374Ter)	ClinVar
6	g.65402541C>A	CA364662389	EYS	c.1121G>T (p.Cys374Phe)
6	g.65402541C>G	CA364662390	EYS	c.1121G>C (p.Cys374Ser)
6	g.65402541C>T	CA364662391	EYS	c.1121G>A (p.Cys374Tyr)	gnomAD v4
6	g.65402542A=	CA1634216038	EYS	c.1120T= (p.Cys374=)
6	g.65402542A>C	CA364662392	EYS	c.1120T>G (p.Cys374Gly)
6	g.65402542A>G	CA364662393	EYS	c.1120T>C (p.Cys374Arg)	ClinVar gnomAD v4
6	g.65402542A>T	CA364662394	EYS	c.1120T>A (p.Cys374Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.65402543T>A	CA450707800	EYS	c.1119A>T (p.Ser373=)
6	g.65402543T>C	CA450707801	EYS	c.1119A>G (p.Ser373=)	dbSNP
6	g.65402543T>G	CA450707799	EYS	c.1119A>C (p.Ser373=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402543T=	CA1634216041	EYS	c.1119A= (p.Ser373=)
6	g.65402544G>A	CA364662397	EYS	c.1118C>T (p.Ser373Leu)
6	g.65402544G>C	CA364662396	EYS	c.1118C>G (p.Ser373Ter)
6	g.65402544G>T	CA364662395	EYS	c.1118C>A (p.Ser373Ter)	gnomAD v4
6	g.65402545del	CA2771499721	EYS	c.1117del (p.Ser373HisfsTer7)
6	g.65402545A>C	CA364662398	EYS	c.1117T>G (p.Ser373Ala)
6	g.65402545A>G	CA364662400	EYS	c.1117T>C (p.Ser373Pro)	ClinVar gnomAD v4
6	g.65402545A>T	CA364662399	EYS	c.1117T>A (p.Ser373Thr)
6	g.65402546T>A	CA450707802	EYS	c.1116A>T (p.Thr372=)	ClinVar dbSNP
6	g.65402546T>C	CA450707803	EYS	c.1116A>G (p.Thr372=)
6	g.65402546T>G	CA450707804	EYS	c.1116A>C (p.Thr372=)	dbSNP
6	g.65402546T=	CA1634216044	EYS	c.1116A= (p.Thr372=)
6	g.65402547G>A	CA364662401	EYS	c.1115C>T (p.Thr372Ile)	COSMIC COSMIC
6	g.65402547G>C	CA364662403	EYS	c.1115C>G (p.Thr372Arg)
6	g.65402547G>T	CA364662402	EYS	c.1115C>A (p.Thr372Lys)	gnomAD v4 COSMIC COSMIC
6	g.65402547_65402563del	CA2771499723	EYS	c.1099_1115del (p.Cys367IlefsTer3)
6	g.65402547_65402548insAGTCA	CA2679289092	EYS	c.1114_1115insTGACT (p.Thr372MetfsTer10)	gnomAD v4
6	g.65402548T>A	CA364662404	EYS	c.1114A>T (p.Thr372Ser)
6	g.65402548T>C	CA364662405	EYS	c.1114A>G (p.Thr372Ala)	gnomAD v4
6	g.65402548T>G	CA364662406	EYS	c.1114A>C (p.Thr372Pro)
6	g.65402550del	CA2679289091	EYS	c.1114del (p.Thr372HisfsTer8)	gnomAD v4
6	g.65402549T>A	CA364662407	EYS	c.1113A>T (p.Gln371His)
6	g.65402549T>C	CA3877862	EYS	c.1113A>G (p.Gln371=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402549T>G	CA364662408	EYS	c.1113A>C (p.Gln371His)
6	g.65402549T=	CA1634216046	EYS	c.1113A= (p.Gln371=)
6	g.65402549_65402553delinsTTGAA	CA1634216047	EYS	c.1109_1113delinsTTCAA (p.Ile370=)
6	g.65402550T>A	CA139845045	EYS	c.1112A>T (p.Gln371Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402550T>C	CA364662409	EYS	c.1112A>G (p.Gln371Arg)
6	g.65402550T>G	CA364662410	EYS	c.1112A>C (p.Gln371Pro)
6	g.65402550T=	CA1634216050	EYS	c.1112A= (p.Gln371=)
6	g.65402552_65402555del	CA917768478	EYS	c.1109_1112del (p.Ile370LysfsTer9)	dbSNP gnomAD v4
6	g.65402550_65402551insCCTTTGAG	CA2679289093	EYS	c.1111_1112insCTCAAAGG (p.Gln371ProfsTer12)	gnomAD v4
6	g.65402551G>A	CA364662412	EYS	c.1111C>T (p.Gln371Ter)	gnomAD v4
6	g.65402551G>C	CA364662411	EYS	c.1111C>G (p.Gln371Glu)
6	g.65402551G=	CA1634216057	EYS	c.1111C= (p.Gln371=)
6	g.65402551G>T	CA139845049	EYS	c.1111C>A (p.Gln371Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402552A=	CA1634216060	EYS	c.1110T= (p.Ile370=)
6	g.65402552A>C	CA364662413	EYS	c.1110T>G (p.Ile370Met)
6	g.65402552A>G	CA3877863	EYS	c.1110T>C (p.Ile370=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402552A>T	CA450707805	EYS	c.1110T>A (p.Ile370=)
6	g.65402553A>C	CA364662414	EYS	c.1109T>G (p.Ile370Ser)
6	g.65402553A>G	CA364662415	EYS	c.1109T>C (p.Ile370Thr)
6	g.65402553A>T	CA364662416	EYS	c.1109T>A (p.Ile370Asn)
6	g.65402554T>A	CA364662417	EYS	c.1108A>T (p.Ile370Phe)
6	g.65402554T>C	CA3877864	EYS	c.1108A>G (p.Ile370Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402554T>G	CA364662418	EYS	c.1108A>C (p.Ile370Leu)
6	g.65402554T=	CA1634216064	EYS	c.1108A= (p.Ile370=)
6	g.65402554_65402579del	CA2580075675	EYS	c.1083_1108del (p.Phe362SerfsTer5)	ClinVar
6	g.65402555G>A	CA3877865	EYS	c.1107C>T (p.Ser369=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6	g.65402555G>C	CA364662419	EYS	c.1107C>G (p.Ser369Arg)
6	g.65402555G=	CA1634216070	EYS	c.1107C= (p.Ser369=)
6	g.65402555G>T	CA364662420	EYS	c.1107C>A (p.Ser369Arg)	gnomAD v4
6	g.65402556C>A	CA364662422	EYS	c.1106G>T (p.Ser369Ile)
6	g.65402556C=	CA1634216074	EYS	c.1106G= (p.Ser369=)
6	g.65402556C>G	CA364662423	EYS	c.1106G>C (p.Ser369Thr)
6	g.65402556C>T	CA364662421	EYS	c.1106G>A (p.Ser369Asn)	dbSNP gnomAD v4
6	g.65402557T>A	CA364662424	EYS	c.1105A>T (p.Ser369Cys)
6	g.65402557T>C	CA364662425	EYS	c.1105A>G (p.Ser369Gly)	gnomAD v4
6	g.65402557T>G	CA3877866	EYS	c.1105A>C (p.Ser369Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402557T=	CA1634216076	EYS	c.1105A= (p.Ser369=)
6	g.65402558C>A	CA364662426	EYS	c.1104G>T (p.Lys368Asn)	gnomAD v4
6	g.65402558C>G	CA364662427	EYS	c.1104G>C (p.Lys368Asn)
6	g.65402558C>T	CA450707806	EYS	c.1104G>A (p.Lys368=)
6	g.65402559T>A	CA364662430	EYS	c.1103A>T (p.Lys368Met)
6	g.65402559T>C	CA364662428	EYS	c.1103A>G (p.Lys368Arg)
6	g.65402559T>G	CA364662429	EYS	c.1103A>C (p.Lys368Thr)
6	g.65402560T>A	CA364662431	EYS	c.1102A>T (p.Lys368Ter)
6	g.65402560T>C	CA364662432	EYS	c.1102A>G (p.Lys368Glu)
6	g.65402560T>G	CA364662433	EYS	c.1102A>C (p.Lys368Gln)
6	g.65402561A>C	CA364662434	EYS	c.1101T>G (p.Cys367Trp)
6	g.65402561A>G	CA450707807	EYS	c.1101T>C (p.Cys367=)
6	g.65402561A>T	CA364662435	EYS	c.1101T>A (p.Cys367Ter)
6	g.65402562C>A	CA364662436	EYS	c.1100G>T (p.Cys367Phe)
6	g.65402562C=	CA1634216079	EYS	c.1100G= (p.Cys367=)
6	g.65402562C>G	CA139845092	EYS	c.1100G>C (p.Cys367Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.65402562C>T	CA364662437	EYS	c.1100G>A (p.Cys367Tyr)	gnomAD v4
6	g.65402563A>C	CA364662438	EYS	c.1099T>G (p.Cys367Gly)
6	g.65402563A>G	CA364662439	EYS	c.1099T>C (p.Cys367Arg)
6	g.65402563A>T	CA364662440	EYS	c.1099T>A (p.Cys367Ser)
6	g.65402564A>C	CA450707808	EYS	c.1098T>G (p.Leu366=)
6	g.65402564A>G	CA450707810	EYS	c.1098T>C (p.Leu366=)
6	g.65402564A>T	CA450707809	EYS	c.1098T>A (p.Leu366=)
6	g.65402565A>C	CA364662441	EYS	c.1097T>G (p.Leu366Arg)
6	g.65402565A>G	CA364662442	EYS	c.1097T>C (p.Leu366Pro)	gnomAD v4
6	g.65402565A>T	CA364662443	EYS	c.1097T>A (p.Leu366His)
6	g.65402566G>A	CA3877867	EYS	c.1096C>T (p.Leu366Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402566G>C	CA364662444	EYS	c.1096C>G (p.Leu366Val)
6	g.65402566G=	CA1634216082	EYS	c.1096C= (p.Leu366=)
6	g.65402566G>T	CA364662445	EYS	c.1096C>A (p.Leu366Ile)
6	g.65402567C>A	CA364662446	EYS	c.1095G>T (p.Leu365Phe)
6	g.65402567C>G	CA364662447	EYS	c.1095G>C (p.Leu365Phe)
6	g.65402567C>T	CA450707811	EYS	c.1095G>A (p.Leu365=)
6	g.65402568A>C	CA364662449	EYS	c.1094T>G (p.Leu365Trp)
6	g.65402568A>G	CA364662450	EYS	c.1094T>C (p.Leu365Ser)
6	g.65402568A>T	CA364662448	EYS	c.1094T>A (p.Leu365Ter)
6	g.65402569A=	CA1634216084	EYS	c.1093T= (p.Leu365=)
6	g.65402569A>C	CA364662451	EYS	c.1093T>G (p.Leu365Val)
6	g.65402569A>G	CA139845100	EYS	c.1093T>C (p.Leu365=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.65402569A>T	CA3877868	EYS	c.1093T>A (p.Leu365Met)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402570A>C	CA364662452	EYS	c.1092T>G (p.Asp364Glu)	gnomAD v4
6	g.65402570A>G	CA450707812	EYS	c.1092T>C (p.Asp364=)	gnomAD v4
6	g.65402570A>T	CA364662453	EYS	c.1092T>A (p.Asp364Glu)
6	g.65402571T>A	CA364662454	EYS	c.1091A>T (p.Asp364Val)
6	g.65402571T>C	CA364662455	EYS	c.1091A>G (p.Asp364Gly)
6	g.65402571T>G	CA364662456	EYS	c.1091A>C (p.Asp364Ala)
6	g.65402571_65402575del	CA2679289094	EYS	c.1087_1091del (p.Thr363PhefsTer4)	gnomAD v4
6	g.65402572C>A	CA364662457	EYS	c.1090G>T (p.Asp364Tyr)	COSMIC COSMIC
6	g.65402572C=	CA1634216088	EYS	c.1090G= (p.Asp364=)
6	g.65402572C>G	CA364662458	EYS	c.1090G>C (p.Asp364His)	dbSNP gnomAD v4
6	g.65402572C>T	CA364662459	EYS	c.1090G>A (p.Asp364Asn)	dbSNP gnomAD v3 gnomAD v4
6	g.65402573T>A	CA450707814	EYS	c.1089A>T (p.Thr363=)
6	g.65402573T>C	CA450707813	EYS	c.1089A>G (p.Thr363=)
6	g.65402573T>G	CA3877869	EYS	c.1089A>C (p.Thr363=)	dbSNP ExAC gnomAD v2 COSMIC COSMIC
6	g.65402573T=	CA1634216091	EYS	c.1089A= (p.Thr363=)
6	g.65402574G>A	CA364662460	EYS	c.1088C>T (p.Thr363Ile)	dbSNP
6	g.65402574G>C	CA364662461	EYS	c.1088C>G (p.Thr363Arg)
6	g.65402574G=	CA1634216092	EYS	c.1088C= (p.Thr363=)
6	g.65402574G>T	CA364662462	EYS	c.1088C>A (p.Thr363Lys)	gnomAD v4
6	g.65402575T>A	CA364662465	EYS	c.1087A>T (p.Thr363Ser)	dbSNP
6	g.65402575T>C	CA364662463	EYS	c.1087A>G (p.Thr363Ala)
6	g.65402575T>G	CA364662464	EYS	c.1087A>C (p.Thr363Pro)
6	g.65402575T=	CA1634216094	EYS	c.1087A= (p.Thr363=)
6	g.65402576A=	CA1634216097	EYS	c.1086T= (p.Phe362=)
6	g.65402576A>C	CA364662466	EYS	c.1086T>G (p.Phe362Leu)
6	g.65402576A>G	CA450707815	EYS	c.1086T>C (p.Phe362=)	ClinVar dbSNP
6	g.65402576A>T	CA364662467	EYS	c.1086T>A (p.Phe362Leu)
6	g.65402577A>C	CA364662468	EYS	c.1085T>G (p.Phe362Cys)	COSMIC COSMIC
6	g.65402577A>G	CA364662469	EYS	c.1085T>C (p.Phe362Ser)
6	g.65402577A>T	CA364662470	EYS	c.1085T>A (p.Phe362Tyr)
6	g.65402578A>C	CA364662471	EYS	c.1084T>G (p.Phe362Val)
6	g.65402578A>G	CA364662472	EYS	c.1084T>C (p.Phe362Leu)
6	g.65402578A>T	CA364662473	EYS	c.1084T>A (p.Phe362Ile)
6	g.65402579T>A	CA450707816	EYS	c.1083A>T (p.Ile361=)
6	g.65402579T>C	CA364662474	EYS	c.1083A>G (p.Ile361Met)	dbSNP
6	g.65402579T>G	CA450707817	EYS	c.1083A>C (p.Ile361=)
6	g.65402579T=	CA1634216099	EYS	c.1083A= (p.Ile361=)
6	g.65402580A=	CA1634216101	EYS	c.1082T= (p.Ile361=)
6	g.65402580A>C	CA364662475	EYS	c.1082T>G (p.Ile361Arg)
6	g.65402580A>G	CA3877870	EYS	c.1082T>C (p.Ile361Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402580A>T	CA364662476	EYS	c.1082T>A (p.Ile361Lys)
6	g.65402581T>A	CA364662478	EYS	c.1081A>T (p.Ile361Leu)
6	g.65402581T>C	CA3877871	EYS	c.1081A>G (p.Ile361Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402581T>G	CA364662477	EYS	c.1081A>C (p.Ile361Leu)
6	g.65402581T=	CA1634216104	EYS	c.1081A= (p.Ile361=)
6	g.65402582T>A	CA450707818	EYS	c.1080A>T (p.Pro360=)
6	g.65402582T>C	CA450707819	EYS	c.1080A>G (p.Pro360=)
6	g.65402582T>G	CA450707820	EYS	c.1080A>C (p.Pro360=)	ClinVar gnomAD v4
6	g.65402583G>A	CA364662479	EYS	c.1079C>T (p.Pro360Leu)	COSMIC COSMIC
6	g.65402583G>C	CA364662480	EYS	c.1079C>G (p.Pro360Arg)
6	g.65402583G>T	CA364662481	EYS	c.1079C>A (p.Pro360Gln)	gnomAD v4
6	g.65402584G>A	CA364662482	EYS	c.1078C>T (p.Pro360Ser)	ClinVar
6	g.65402584G>C	CA364662483	EYS	c.1078C>G (p.Pro360Ala)
6	g.65402584G>T	CA364662484	EYS	c.1078C>A (p.Pro360Thr)	gnomAD v4 COSMIC COSMIC
6	g.65402585T>A	CA450707821	EYS	c.1077A>T (p.Ser359=)
6	g.65402585T>C	CA450707822	EYS	c.1077A>G (p.Ser359=)
6	g.65402585T>G	CA450707823	EYS	c.1077A>C (p.Ser359=)
6	g.65402586G>A	CA364662487	EYS	c.1076C>T (p.Ser359Leu)	gnomAD v4
6	g.65402586G>C	CA364662485	EYS	c.1076C>G (p.Ser359Ter)
6	g.65402586G>T	CA364662486	EYS	c.1076C>A (p.Ser359Ter)	gnomAD v4 COSMIC COSMIC
6	g.65402587A>C	CA364662488	EYS	c.1075T>G (p.Ser359Ala)	gnomAD v4
6	g.65402587A>G	CA364662489	EYS	c.1075T>C (p.Ser359Pro)	gnomAD v4
6	g.65402587A>T	CA364662490	EYS	c.1075T>A (p.Ser359Thr)	gnomAD v4
6	g.65402588A>C	CA364662491	EYS	c.1074T>G (p.Cys358Trp)	COSMIC COSMIC
6	g.65402588A>G	CA450707824	EYS	c.1074T>C (p.Cys358=)	gnomAD v4
6	g.65402588A>T	CA364662492	EYS	c.1074T>A (p.Cys358Ter)
6	g.65402589C>A	CA364662493	EYS	c.1073G>T (p.Cys358Phe)
6	g.65402589C>G	CA364662495	EYS	c.1073G>C (p.Cys358Ser)	gnomAD v4
6	g.65402589C>T	CA364662494	EYS	c.1073G>A (p.Cys358Tyr)
6	g.65402590A>C	CA364662496	EYS	c.1072T>G (p.Cys358Gly)
6	g.65402590A>G	CA364662497	EYS	c.1072T>C (p.Cys358Arg)
6	g.65402590A>T	CA364662498	EYS	c.1072T>A (p.Cys358Ser)
6	g.65402591G>A	CA450707825	EYS	c.1071C>T (p.Ile357=)	dbSNP gnomAD v2 gnomAD v4
6	g.65402591G>C	CA364662499	EYS	c.1071C>G (p.Ile357Met)
6	g.65402591G=	CA1634216106	EYS	c.1071C= (p.Ile357=)
6	g.65402591G>T	CA450707826	EYS	c.1071C>A (p.Ile357=)	gnomAD v4
6	g.65402592A=	CA1634216109	EYS	c.1070T= (p.Ile357=)
6	g.65402592A>C	CA364662500	EYS	c.1070T>G (p.Ile357Ser)	ClinVar dbSNP
6	g.65402592A>G	CA364662501	EYS	c.1070T>C (p.Ile357Thr)
6	g.65402592A>T	CA364662502	EYS	c.1070T>A (p.Ile357Asn)
6	g.65402593T>A	CA364662503	EYS	c.1069A>T (p.Ile357Phe)
6	g.65402593T>C	CA364662504	EYS	c.1069A>G (p.Ile357Val)	dbSNP gnomAD v2 gnomAD v4
6	g.65402593T>G	CA364662505	EYS	c.1069A>C (p.Ile357Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.65402593T=	CA1634216111	EYS	c.1069A= (p.Ile357=)
6	g.65402594G>A	CA450707827	EYS	c.1068C>T (p.Cys356=)	gnomAD v4
6	g.65402594G>C	CA364662506	EYS	c.1068C>G (p.Cys356Trp)
6	g.65402594G=	CA1634216114	EYS	c.1068C= (p.Cys356=)
6	g.65402594G>T	CA364662507	EYS	c.1068C>A (p.Cys356Ter)	ClinVar dbSNP gnomAD v4
6	g.65402594dup	CA2697553531	EYS	c.1068dup (p.Ile357HisfsTer12)	ClinVar
6	g.65402595C>A	CA364662510	EYS	c.1067G>T (p.Cys356Phe)	gnomAD v4 COSMIC COSMIC
6	g.65402595C=	CA1634216118	EYS	c.1067G= (p.Cys356=)
6	g.65402595C>G	CA364662509	EYS	c.1067G>C (p.Cys356Ser)
6	g.65402595C>T	CA364662508	EYS	c.1067G>A (p.Cys356Tyr)	dbSNP gnomAD v3 gnomAD v4
6	g.65402596A>C	CA364662512	EYS	c.1066T>G (p.Cys356Gly)	ClinVar dbSNP
6	g.65402596A>G	CA364662511	EYS	c.1066T>C (p.Cys356Arg)	gnomAD v4
6	g.65402596A>T	CA364662513	EYS	c.1066T>A (p.Cys356Ser)
6	g.65402597C>A	CA364662514	EYS	c.1065G>T (p.Met355Ile)
6	g.65402597C=	CA1634216120	EYS	c.1065G= (p.Met355=)
6	g.65402597C>G	CA364662516	EYS	c.1065G>C (p.Met355Ile)	gnomAD v4
6	g.65402597C>T	CA364662515	EYS	c.1065G>A (p.Met355Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402598A>C	CA364662517	EYS	c.1064T>G (p.Met355Arg)
6	g.65402598A>G	CA364662519	EYS	c.1064T>C (p.Met355Thr)	gnomAD v4
6	g.65402598A>T	CA364662518	EYS	c.1064T>A (p.Met355Lys)	gnomAD v4
6	g.65402599T>A	CA364662520	EYS	c.1063A>T (p.Met355Leu)
6	g.65402599T>C	CA364662521	EYS	c.1063A>G (p.Met355Val)	gnomAD v4
6	g.65402599T>G	CA364662522	EYS	c.1063A>C (p.Met355Leu)
6	g.65402600A>C	CA450707828	EYS	c.1062T>G (p.Val354=)
6	g.65402600A>G	CA450707829	EYS	c.1062T>C (p.Val354=)	gnomAD v4
6	g.65402600A>T	CA450707830	EYS	c.1062T>A (p.Val354=)
6	g.65402601del	CA2578661067	EYS	c.1062del (p.Met355CysfsTer25)
6	g.65402601A>C	CA364662523	EYS	c.1061T>G (p.Val354Gly)	gnomAD v4
6	g.65402601A>G	CA364662524	EYS	c.1061T>C (p.Val354Ala)
6	g.65402601A>T	CA364662525	EYS	c.1061T>A (p.Val354Asp)
6	g.65402602C>A	CA364662526	EYS	c.1060G>T (p.Val354Phe)	gnomAD v4
6	g.65402602C>G	CA364662527	EYS	c.1060G>C (p.Val354Leu)
6	g.65402602C>T	CA364662528	EYS	c.1060G>A (p.Val354Ile)	gnomAD v4
6	g.65402603A=	CA1634216122	EYS	c.1059T= (p.Asp353=)
6	g.65402603A>C	CA364662529	EYS	c.1059T>G (p.Asp353Glu)
6	g.65402603A>G	CA450707831	EYS	c.1059T>C (p.Asp353=)	gnomAD v4
6	g.65402603A>T	CA3877872	EYS	c.1059T>A (p.Asp353Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402604T>A	CA364662532	EYS	c.1058A>T (p.Asp353Val)
6	g.65402604T>C	CA364662531	EYS	c.1058A>G (p.Asp353Gly)
6	g.65402604T>G	CA364662530	EYS	c.1058A>C (p.Asp353Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402604T=	CA1634216125	EYS	c.1058A= (p.Asp353=)
6	g.65402604_65402605delinsTC	CA1634216126	EYS	c.1057_1058delinsGA (p.Asp353=)
6	g.65402605C>A	CA364662533	EYS	c.1057G>T (p.Asp353Tyr)
6	g.65402605C=	CA1634216129	EYS	c.1057G= (p.Asp353=)
6	g.65402605C>G	CA364662534	EYS	c.1057G>C (p.Asp353His)
6	g.65402605C>T	CA3877873	EYS	c.1057G>A (p.Asp353Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.65402606del	CA1634216128	EYS	c.1057del	dbSNP
6	g.65402606C>A	CA364662535	EYS	c.1057-1G>T (n.1057-1G>T)	COSMIC COSMIC
6	g.65402606C=	CA1634216134	EYS	c.1057-1G= (n.1057-1G=)
6	g.65402606C>G	CA364662536	EYS	c.1057-1G>C (n.1057-1G>C)	gnomAD v4
6	g.65402606C>T	CA3877874	EYS	c.1057-1G>A (n.1057-1G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402607del	CA2697553532	EYS	c.1057-2del (n.1057-2del)	ClinVar
6	g.65402607T>A	CA364662537	EYS	c.1057-2A>T (n.1057-2A>T)
6	g.65402607T>C	CA364662538	EYS	c.1057-2A>G (n.1057-2A>G)	gnomAD v4
6	g.65402607T>G	CA364662539	EYS	c.1057-2A>C (n.1057-2A>C)
6	g.65402607_65402612del	CA2771499730	EYS	c.1057-7_1057-2del (n.1057-7_1057-2del)
6	g.65402608A=	CA1634216137	EYS	c.1057-3T= (n.1057-3T=)
6	g.65402608A>G	CA3877875	EYS	c.1057-3T>C (n.1057-3T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.65402609G>A	CA645560396	EYS	c.1057-4C>T (n.1057-4C>T)	COSMIC COSMIC
6	g.65402609G>C	CA2771499732	EYS	c.1057-4C>G (n.1057-4C>G)
6	g.65402609G>T	CA2679289095	EYS	c.1057-4C>A (n.1057-4C>A)	gnomAD v4
6	g.65402610G>A	CA2679289097	EYS	c.1057-5C>T (n.1057-5C>T)	gnomAD v4
6	g.65402610G>T	CA2679289096	EYS	c.1057-5C>A (n.1057-5C>A)	gnomAD v4
6	g.65402610_65402611delinsGA	CA1634216139	EYS	c.1057-6_1057-5delinsTC (n.1057-6_1057-5delinsTC)
6	g.65402611A>G	CA2679289098	EYS	c.1057-6T>C (n.1057-6T>C)	gnomAD v4
6	g.65402613del	CA1089921090	EYS	c.1057-6del (n.1057-6del)	dbSNP gnomAD v3 gnomAD v4
6	g.65402613A>G	CA2679289099	EYS	c.1057-8T>C (n.1057-8T>C)	gnomAD v4
6	g.65402614G>A	CA2771499734	EYS	c.1057-9C>T (n.1057-9C>T)
6	g.65402614G>T	CA2679289100	EYS	c.1057-9C>A (n.1057-9C>A)	gnomAD v4
6	g.65402615A=	CA1634216141	EYS	c.1057-10T= (n.1057-10T=)
6	g.65402615A>T	CA139845144	EYS	c.1057-10T>A (n.1057-10T>A)	dbSNP
6	g.65402616T>A	CA1089921112	EYS	c.1057-11A>T (n.1057-11A>T)	dbSNP gnomAD v3 gnomAD v4
6	g.65402616T>C	CA2598626221	EYS	c.1057-11A>G (n.1057-11A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.65402616T=	CA1634216143	EYS	c.1057-11A= (n.1057-11A=)
6	g.65402617T>A	CA2771499735	EYS	c.1057-12A>T (n.1057-12A>T)
6	g.65402617_65402618delinsTA	CA1634216145	EYS	c.1057-13_1057-12delinsTA (n.1057-13_1057-12delinsTA)

Number of alleles fetched