Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230705T>A	CA364391385	EYS	c.6311A>T (p.Gln2104Leu)
6	g.64230705T>C	CA364391387	EYS	c.6311A>G (p.Gln2104Arg)
6	g.64230705T>G	CA364391386	EYS	c.6311A>C (p.Gln2104Pro)
6	g.64230706G>A	CA364391388	EYS	c.6310C>T (p.Gln2104Ter)
6	g.64230706G>C	CA364391389	EYS	c.6310C>G (p.Gln2104Glu)
6	g.64230706G>T	CA364391390	EYS	c.6310C>A (p.Gln2104Lys)
6	g.64230707G>A	CA450758818	EYS	c.6309C>T (p.Cys2103=)
6	g.64230707G>C	CA364391391	EYS	c.6309C>G (p.Cys2103Trp)
6	g.64230707G>T	CA364391392	EYS	c.6309C>A (p.Cys2103Ter)
6	g.64230707_64230708delinsGC	CA1633626668	EYS	c.6308_6309delinsGC (p.Cys2103=)
6	g.64230708del	CA568119118	EYS	c.6308del (p.Cys2103SerfsTer21)	dbSNP gnomAD v2 gnomAD v4
6	g.64230708C>A	CA364391393	EYS	c.6308G>T (p.Cys2103Phe)
6	g.64230708C>G	CA364391394	EYS	c.6308G>C (p.Cys2103Ser)
6	g.64230708C>T	CA364391395	EYS	c.6308G>A (p.Cys2103Tyr)
6	g.64230709A>C	CA364391396	EYS	c.6307T>G (p.Cys2103Gly)
6	g.64230709A>G	CA364391397	EYS	c.6307T>C (p.Cys2103Arg)
6	g.64230709A>T	CA364391398	EYS	c.6307T>A (p.Cys2103Ser)
6	g.64230710C>A	CA450758819	EYS	c.6306G>T (p.Val2102=)
6	g.64230710C=	CA1633626670	EYS	c.6306G= (p.Val2102=)
6	g.64230710C>G	CA450758820	EYS	c.6306G>C (p.Val2102=)
6	g.64230710C>T	CA450758821	EYS	c.6306G>A (p.Val2102=)	ClinVar dbSNP gnomAD v4
6	g.64230710_64230725delinsCACAGAGGGTGCTGCA	CA1633626669	EYS	c.6291_6306delinsTGCAGCACCCTCTGTG (p.Val2097=)
6	g.64230711A=	CA1633626671	EYS	c.6305T= (p.Val2102=)
6	g.64230711A>C	CA364391401	EYS	c.6305T>G (p.Val2102Gly)
6	g.64230711A>G	CA364391400	EYS	c.6305T>C (p.Val2102Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.64230711A>T	CA364391399	EYS	c.6305T>A (p.Val2102Glu)
6	g.64230719_64230733del	CA568119119	EYS	c.6291_6305del (p.Ala2098_Val2102del)	dbSNP gnomAD v2 gnomAD v4
6	g.64230712C>A	CA364391402	EYS	c.6304G>T (p.Val2102Leu)
6	g.64230712C=	CA1633626672	EYS	c.6304G= (p.Val2102=)
6	g.64230712C>G	CA364391403	EYS	c.6304G>C (p.Val2102Leu)	dbSNP
6	g.64230712C>T	CA364391404	EYS	c.6304G>A (p.Val2102Met)
6	g.64230713A>C	CA450758822	EYS	c.6303T>G (p.Ser2101=)
6	g.64230713A>G	CA450758823	EYS	c.6303T>C (p.Ser2101=)
6	g.64230713A>T	CA450758824	EYS	c.6303T>A (p.Ser2101=)
6	g.64230715_64230716del	CA2695198255	EYS	c.6302_6303del (p.Ser2101CysfsTer28)	ClinVar
6	g.64230714G>A	CA140296097	EYS	c.6302C>T (p.Ser2101Phe)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.64230714G>C	CA364391405	EYS	c.6302C>G (p.Ser2101Cys)	ClinVar gnomAD v4
6	g.64230714G=	CA1633626673	EYS	c.6302C= (p.Ser2101=)
6	g.64230714G>T	CA364391406	EYS	c.6302C>A (p.Ser2101Tyr)
6	g.64230715A>C	CA364391407	EYS	c.6301T>G (p.Ser2101Ala)
6	g.64230715A>G	CA364391408	EYS	c.6301T>C (p.Ser2101Pro)	gnomAD v4
6	g.64230715A>T	CA364391409	EYS	c.6301T>A (p.Ser2101Thr)
6	g.64230716G>A	CA450758825	EYS	c.6300C>T (p.Pro2100=)	dbSNP gnomAD v2 gnomAD v4
6	g.64230716G>C	CA450758826	EYS	c.6300C>G (p.Pro2100=)
6	g.64230716G=	CA1633626674	EYS	c.6300C= (p.Pro2100=)
6	g.64230716G>T	CA450758827	EYS	c.6300C>A (p.Pro2100=)
6	g.64230717G>A	CA364391410	EYS	c.6299C>T (p.Pro2100Leu)
6	g.64230717G>C	CA364391411	EYS	c.6299C>G (p.Pro2100Arg)
6	g.64230717G>T	CA364391412	EYS	c.6299C>A (p.Pro2100His)	gnomAD v4
6	g.64230718G>A	CA364391415	EYS	c.6298C>T (p.Pro2100Ser)	dbSNP gnomAD v4
6	g.64230718G>C	CA364391414	EYS	c.6298C>G (p.Pro2100Ala)
6	g.64230718G=	CA1633626675	EYS	c.6298C= (p.Pro2100=)
6	g.64230718G>T	CA364391413	EYS	c.6298C>A (p.Pro2100Thr)
6	g.64230719T>A	CA450758828	EYS	c.6297A>T (p.Ala2099=)
6	g.64230719T>C	CA450758830	EYS	c.6297A>G (p.Ala2099=)
6	g.64230719T>G	CA450758829	EYS	c.6297A>C (p.Ala2099=)
6	g.64230719_64230725dup	CA2679283468	EYS	c.6291_6297dup (p.Pro2100CysfsTer32)	gnomAD v4
6	g.64230720G>A	CA364391416	EYS	c.6296C>T (p.Ala2099Val)	ClinVar dbSNP gnomAD v4
6	g.64230720G>C	CA364391417	EYS	c.6296C>G (p.Ala2099Gly)	dbSNP
6	g.64230720G>T	CA364391418	EYS	c.6296C>A (p.Ala2099Glu)	gnomAD v4
6	g.64230720_64230721delinsGC	CA1633626676	EYS	c.6295_6296delinsGC (p.Ala2099=)
6	g.64230721del	CA568119120	EYS	c.6295del (p.Ala2099HisfsTer25)	dbSNP gnomAD v2
6	g.64230721C>A	CA364391419	EYS	c.6295G>T (p.Ala2099Ser)
6	g.64230721C>G	CA364391420	EYS	c.6295G>C (p.Ala2099Pro)
6	g.64230721C>T	CA364391421	EYS	c.6295G>A (p.Ala2099Thr)	gnomAD v4
6	g.64230722T>A	CA450758831	EYS	c.6294A>T (p.Ala2098=)
6	g.64230722T>C	CA450758832	EYS	c.6294A>G (p.Ala2098=)
6	g.64230722T>G	CA450758833	EYS	c.6294A>C (p.Ala2098=)	ClinVar
6	g.64230723G>A	CA364391422	EYS	c.6293C>T (p.Ala2098Val)
6	g.64230723G>C	CA364391423	EYS	c.6293C>G (p.Ala2098Gly)
6	g.64230723G>T	CA364391424	EYS	c.6293C>A (p.Ala2098Glu)
6	g.64230724C>A	CA364391425	EYS	c.6292G>T (p.Ala2098Ser)	dbSNP COSMIC
6	g.64230724C=	CA1633626677	EYS	c.6292G= (p.Ala2098=)
6	g.64230724C>G	CA364391426	EYS	c.6292G>C (p.Ala2098Pro)	gnomAD v4
6	g.64230724C>T	CA364391427	EYS	c.6292G>A (p.Ala2098Thr)
6	g.64230725A>C	CA450758834	EYS	c.6291T>G (p.Val2097=)
6	g.64230725A>G	CA450758835	EYS	c.6291T>C (p.Val2097=)
6	g.64230725A>T	CA450758836	EYS	c.6291T>A (p.Val2097=)
6	g.64230726A=	CA1633626678	EYS	c.6290T= (p.Val2097=)
6	g.64230726A>C	CA364391430	EYS	c.6290T>G (p.Val2097Gly)
6	g.64230726A>G	CA364391429	EYS	c.6290T>C (p.Val2097Ala)
6	g.64230726A>T	CA364391428	EYS	c.6290T>A (p.Val2097Asp)	dbSNP
6	g.64230727C>A	CA364391431	EYS	c.6289G>T (p.Val2097Phe)
6	g.64230727C=	CA1633626679	EYS	c.6289G= (p.Val2097=)
6	g.64230727C>G	CA364391432	EYS	c.6289G>C (p.Val2097Leu)	ClinVar gnomAD v4
6	g.64230727C>T	CA140296098	EYS	c.6289G>A (p.Val2097Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230728A>C	CA450758839	EYS	c.6288T>G (p.Ser2096=)
6	g.64230728A>G	CA450758838	EYS	c.6288T>C (p.Ser2096=)
6	g.64230728A>T	CA450758837	EYS	c.6288T>A (p.Ser2096=)
6	g.64230730_64230731del	CA2580617280	EYS	c.6287_6288del (p.Ser2096CysfsTer?)	ClinVar dbSNP
6	g.64230729G>A	CA364391433	EYS	c.6287C>T (p.Ser2096Phe)
6	g.64230729G>C	CA364391434	EYS	c.6287C>G (p.Ser2096Cys)
6	g.64230729G>T	CA364391435	EYS	c.6287C>A (p.Ser2096Tyr)
6	g.64230730del	CA2573052723	EYS	c.6286del (p.Ser2096LeufsTer28)	ClinVar dbSNP
6	g.64230730A>C	CA364391436	EYS	c.6286T>G (p.Ser2096Ala)
6	g.64230730A>G	CA364391437	EYS	c.6286T>C (p.Ser2096Pro)
6	g.64230730A>T	CA364391438	EYS	c.6286T>A (p.Ser2096Thr)
6	g.64230731G>A	CA450758841	EYS	c.6285C>T (p.Pro2095=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230731G>C	CA450758842	EYS	c.6285C>G (p.Pro2095=)
6	g.64230731G=	CA1633626680	EYS	c.6285C= (p.Pro2095=)
6	g.64230731G>T	CA450758843	EYS	c.6285C>A (p.Pro2095=)
6	g.64230732G>A	CA3876931	EYS	c.6284C>T (p.Pro2095Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230732G>C	CA364391439	EYS	c.6284C>G (p.Pro2095Arg)
6	g.64230732G=	CA1633626681	EYS	c.6284C= (p.Pro2095=)
6	g.64230732G>T	CA364391440	EYS	c.6284C>A (p.Pro2095His)	dbSNP gnomAD v2
6	g.64230733G>A	CA364391443	EYS	c.6283C>T (p.Pro2095Ser)
6	g.64230733G>C	CA364391442	EYS	c.6283C>G (p.Pro2095Ala)
6	g.64230733G>T	CA364391441	EYS	c.6283C>A (p.Pro2095Thr)
6	g.64230734G>A	CA140296099	EYS	c.6282C>T (p.Ser2094=)	ClinVar dbSNP
6	g.64230734G>C	CA364391444	EYS	c.6282C>G (p.Ser2094Arg)
6	g.64230734G=	CA1633626682	EYS	c.6282C= (p.Ser2094=)
6	g.64230734G>T	CA364391445	EYS	c.6282C>A (p.Ser2094Arg)
6	g.64230735C>A	CA364391446	EYS	c.6281G>T (p.Ser2094Ile)
6	g.64230735C>G	CA364391448	EYS	c.6281G>C (p.Ser2094Thr)
6	g.64230735C>T	CA364391447	EYS	c.6281G>A (p.Ser2094Asn)	ClinVar dbSNP
6	g.64230736T>A	CA364391449	EYS	c.6280A>T (p.Ser2094Cys)
6	g.64230736T>C	CA364391451	EYS	c.6280A>G (p.Ser2094Gly)	gnomAD v3 gnomAD v4
6	g.64230736T>G	CA364391450	EYS	c.6280A>C (p.Ser2094Arg)
6	g.64230737G>A	CA450758844	EYS	c.6279C>T (p.Val2093=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230737G>C	CA450758845	EYS	c.6279C>G (p.Val2093=)
6	g.64230737G=	CA1633626683	EYS	c.6279C= (p.Val2093=)
6	g.64230737G>T	CA450758847	EYS	c.6279C>A (p.Val2093=)
6	g.64230738A=	CA1633626684	EYS	c.6278T= (p.Val2093=)
6	g.64230738A>C	CA364391452	EYS	c.6278T>G (p.Val2093Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.64230738A>G	CA364391453	EYS	c.6278T>C (p.Val2093Ala)
6	g.64230738A>T	CA364391454	EYS	c.6278T>A (p.Val2093Asp)
6	g.64230739C>A	CA364391455	EYS	c.6277G>T (p.Val2093Phe)
6	g.64230739C>G	CA364391456	EYS	c.6277G>C (p.Val2093Leu)	gnomAD v4
6	g.64230739C>T	CA364391457	EYS	c.6277G>A (p.Val2093Ile)
6	g.64230740A>C	CA450758848	EYS	c.6276T>G (p.Ser2092=)
6	g.64230740A>G	CA450758849	EYS	c.6276T>C (p.Ser2092=)	ClinVar gnomAD v4
6	g.64230740A>T	CA450758850	EYS	c.6276T>A (p.Ser2092=)
6	g.64230741G>A	CA364391458	EYS	c.6275C>T (p.Ser2092Phe)
6	g.64230741G>C	CA364391459	EYS	c.6275C>G (p.Ser2092Cys)
6	g.64230741G>T	CA364391460	EYS	c.6275C>A (p.Ser2092Tyr)
6	g.64230742A>C	CA364391461	EYS	c.6274T>G (p.Ser2092Ala)
6	g.64230742A>G	CA364391462	EYS	c.6274T>C (p.Ser2092Pro)	gnomAD v4
6	g.64230742A>T	CA364391463	EYS	c.6274T>A (p.Ser2092Thr)
6	g.64230743A=	CA1633626685	EYS	c.6273T= (p.Thr2091=)
6	g.64230743A>C	CA450758851	EYS	c.6273T>G (p.Thr2091=)
6	g.64230743A>G	CA3876932	EYS	c.6273T>C (p.Thr2091=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230743A>T	CA450758852	EYS	c.6273T>A (p.Thr2091=)
6	g.64230744G>A	CA364391464	EYS	c.6272C>T (p.Thr2091Ile)	dbSNP gnomAD v2 gnomAD v4
6	g.64230744G>C	CA364391466	EYS	c.6272C>G (p.Thr2091Ser)
6	g.64230744G=	CA1633626686	EYS	c.6272C= (p.Thr2091=)
6	g.64230744G>T	CA364391465	EYS	c.6272C>A (p.Thr2091Asn)
6	g.64230745T>A	CA364391467	EYS	c.6271A>T (p.Thr2091Ser)
6	g.64230745T>C	CA364391468	EYS	c.6271A>G (p.Thr2091Ala)	dbSNP gnomAD v3 gnomAD v4
6	g.64230745T>G	CA364391469	EYS	c.6271A>C (p.Thr2091Pro)
6	g.64230745T=	CA1633626687	EYS	c.6271A= (p.Thr2091=)
6	g.64230746C>A	CA364391470	EYS	c.6270G>T (p.Trp2090Cys)
6	g.64230746C=	CA1633626688	EYS	c.6270G= (p.Trp2090=)
6	g.64230746C>G	CA364391471	EYS	c.6270G>C (p.Trp2090Cys)
6	g.64230746C>T	CA364391472	EYS	c.6270G>A (p.Trp2090Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230747C>A	CA364391473	EYS	c.6269G>T (p.Trp2090Leu)
6	g.64230747C=	CA1633626689	EYS	c.6269G= (p.Trp2090=)
6	g.64230747C>G	CA364391474	EYS	c.6269G>C (p.Trp2090Ser)
6	g.64230747C>T	CA364391475	EYS	c.6269G>A (p.Trp2090Ter)	ClinVar dbSNP gnomAD v4
6	g.64230748A>C	CA364391478	EYS	c.6268T>G (p.Trp2090Gly)
6	g.64230748A>G	CA364391477	EYS	c.6268T>C (p.Trp2090Arg)
6	g.64230748A>T	CA364391476	EYS	c.6268T>A (p.Trp2090Arg)	dbSNP
6	g.64230749C>A	CA364391479	EYS	c.6267G>T (p.Met2089Ile)	dbSNP
6	g.64230749C>G	CA364391480	EYS	c.6267G>C (p.Met2089Ile)
6	g.64230749C>T	CA364391481	EYS	c.6267G>A (p.Met2089Ile)	gnomAD v4
6	g.64230750A=	CA1633626690	EYS	c.6266T= (p.Met2089=)
6	g.64230750A>C	CA364391482	EYS	c.6266T>G (p.Met2089Arg)
6	g.64230750A>G	CA364391483	EYS	c.6266T>C (p.Met2089Thr)	dbSNP
6	g.64230750A>T	CA364391484	EYS	c.6266T>A (p.Met2089Lys)
6	g.64230751T>A	CA364391485	EYS	c.6265A>T (p.Met2089Leu)
6	g.64230751T>C	CA364391486	EYS	c.6265A>G (p.Met2089Val)
6	g.64230751T>G	CA364391487	EYS	c.6265A>C (p.Met2089Leu)
6	g.64230752G>A	CA450758853	EYS	c.6264C>T (p.Thr2088=)	gnomAD v4
6	g.64230752G>C	CA450758854	EYS	c.6264C>G (p.Thr2088=)
6	g.64230752G>T	CA450758855	EYS	c.6264C>A (p.Thr2088=)
6	g.64230753G>A	CA364391488	EYS	c.6263C>T (p.Thr2088Ile)	dbSNP gnomAD v4
6	g.64230753G>C	CA364391489	EYS	c.6263C>G (p.Thr2088Ser)
6	g.64230753G=	CA1633626691	EYS	c.6263C= (p.Thr2088=)
6	g.64230753G>T	CA364391490	EYS	c.6263C>A (p.Thr2088Asn)	gnomAD v4
6	g.64230754T>A	CA364391493	EYS	c.6262A>T (p.Thr2088Ser)
6	g.64230754T>C	CA364391491	EYS	c.6262A>G (p.Thr2088Ala)
6	g.64230754T>G	CA364391492	EYS	c.6262A>C (p.Thr2088Pro)
6	g.64230754dup	CA2679283469	EYS	c.6262dup (p.Thr2088AsnfsTer?)	gnomAD v4
6	g.64230755A=	CA1633626692	EYS	c.6261T= (p.Asp2087=)
6	g.64230755A>C	CA364391494	EYS	c.6261T>G (p.Asp2087Glu)
6	g.64230755A>G	CA450758856	EYS	c.6261T>C (p.Asp2087=)	dbSNP
6	g.64230755A>T	CA364391495	EYS	c.6261T>A (p.Asp2087Glu)
6	g.64230756T>A	CA364391496	EYS	c.6260A>T (p.Asp2087Val)
6	g.64230756T>C	CA364391497	EYS	c.6260A>G (p.Asp2087Gly)	gnomAD v4
6	g.64230756T>G	CA364391498	EYS	c.6260A>C (p.Asp2087Ala)
6	g.64230757C>A	CA364391499	EYS	c.6259G>T (p.Asp2087Tyr)	COSMIC
6	g.64230757C=	CA1633626693	EYS	c.6259G= (p.Asp2087=)
6	g.64230757C>G	CA364391500	EYS	c.6259G>C (p.Asp2087His)	dbSNP gnomAD v4
6	g.64230757C>T	CA364391501	EYS	c.6259G>A (p.Asp2087Asn)	COSMIC
6	g.64230758A>C	CA450758857	EYS	c.6258T>G (p.Val2086=)
6	g.64230758A>G	CA450758858	EYS	c.6258T>C (p.Val2086=)
6	g.64230758A>T	CA450758859	EYS	c.6258T>A (p.Val2086=)	ClinVar gnomAD v4
6	g.64230759A>C	CA364391502	EYS	c.6257T>G (p.Val2086Gly)
6	g.64230759A>G	CA364391503	EYS	c.6257T>C (p.Val2086Ala)
6	g.64230759A>T	CA364391504	EYS	c.6257T>A (p.Val2086Asp)
6	g.64230760C>A	CA364391507	EYS	c.6256G>T (p.Val2086Phe)	gnomAD v4
6	g.64230760C=	CA1633626694	EYS	c.6256G= (p.Val2086=)
6	g.64230760C>G	CA364391506	EYS	c.6256G>C (p.Val2086Leu)
6	g.64230760C>T	CA364391505	EYS	c.6256G>A (p.Val2086Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230761C>A	CA450758860	EYS	c.6255G>T (p.Gly2085=)	gnomAD v4
6	g.64230761C>G	CA450758861	EYS	c.6255G>C (p.Gly2085=)
6	g.64230761C>T	CA450758862	EYS	c.6255G>A (p.Gly2085=)	ClinVar gnomAD v4
6	g.64230762C>A	CA364391508	EYS	c.6254G>T (p.Gly2085Val)
6	g.64230762C>G	CA364391510	EYS	c.6254G>C (p.Gly2085Ala)
6	g.64230762C>T	CA364391509	EYS	c.6254G>A (p.Gly2085Glu)
6	g.64230763C>A	CA364391511	EYS	c.6253G>T (p.Gly2085Trp)
6	g.64230763C>G	CA364391512	EYS	c.6253G>C (p.Gly2085Arg)
6	g.64230763C>T	CA364391513	EYS	c.6253G>A (p.Gly2085Arg)
6	g.64230764T>A	CA364391514	EYS	c.6252A>T (p.Gln2084His)
6	g.64230764T>C	CA450758863	EYS	c.6252A>G (p.Gln2084=)
6	g.64230764T>G	CA364391515	EYS	c.6252A>C (p.Gln2084His)
6	g.64230765T>A	CA364391516	EYS	c.6251A>T (p.Gln2084Leu)
6	g.64230765T>C	CA364391517	EYS	c.6251A>G (p.Gln2084Arg)	dbSNP
6	g.64230765T>G	CA364391518	EYS	c.6251A>C (p.Gln2084Pro)
6	g.64230766G>A	CA364391519	EYS	c.6250C>T (p.Gln2084Ter)
6	g.64230766G>C	CA364391520	EYS	c.6250C>G (p.Gln2084Glu)
6	g.64230766G>T	CA364391521	EYS	c.6250C>A (p.Gln2084Lys)
6	g.64230767T>A	CA450758864	EYS	c.6249A>T (p.Thr2083=)
6	g.64230767T>C	CA450758865	EYS	c.6249A>G (p.Thr2083=)
6	g.64230767T>G	CA140296100	EYS	c.6249A>C (p.Thr2083=)	ClinVar dbSNP gnomAD v4
6	g.64230767T=	CA1633626695	EYS	c.6249A= (p.Thr2083=)
6	g.64230768G>A	CA364391524	EYS	c.6248C>T (p.Thr2083Ile)
6	g.64230768G>C	CA364391522	EYS	c.6248C>G (p.Thr2083Arg)
6	g.64230768G>T	CA364391523	EYS	c.6248C>A (p.Thr2083Lys)
6	g.64230769T>A	CA364391525	EYS	c.6247A>T (p.Thr2083Ser)
6	g.64230769T>C	CA364391526	EYS	c.6247A>G (p.Thr2083Ala)
6	g.64230769T>G	CA364391527	EYS	c.6247A>C (p.Thr2083Pro)
6	g.64230770C>A	CA450758866	EYS	c.6246G>T (p.Val2082=)	gnomAD v4
6	g.64230770C>G	CA450758867	EYS	c.6246G>C (p.Val2082=)
6	g.64230770C>T	CA450758868	EYS	c.6246G>A (p.Val2082=)
6	g.64230771A>C	CA364391528	EYS	c.6245T>G (p.Val2082Gly)
6	g.64230771A>G	CA364391529	EYS	c.6245T>C (p.Val2082Ala)
6	g.64230771A>T	CA364391530	EYS	c.6245T>A (p.Val2082Glu)
6	g.64230772C>A	CA364391531	EYS	c.6244G>T (p.Val2082Leu)
6	g.64230772C=	CA1633626696	EYS	c.6244G= (p.Val2082=)
6	g.64230772C>G	CA364391532	EYS	c.6244G>C (p.Val2082Leu)
6	g.64230772C>T	CA364391533	EYS	c.6244G>A (p.Val2082Met)	ClinVar dbSNP
6	g.64230773A>C	CA364391534	EYS	c.6243T>G (p.Asp2081Glu)
6	g.64230773A>G	CA450758869	EYS	c.6243T>C (p.Asp2081=)
6	g.64230773A>T	CA364391535	EYS	c.6243T>A (p.Asp2081Glu)
6	g.64230774T>A	CA364391537	EYS	c.6242A>T (p.Asp2081Val)	dbSNP gnomAD v4
6	g.64230774T>C	CA364391538	EYS	c.6242A>G (p.Asp2081Gly)
6	g.64230774T>G	CA364391536	EYS	c.6242A>C (p.Asp2081Ala)
6	g.64230774T=	CA1633626697	EYS	c.6242A= (p.Asp2081=)
6	g.64230775C>A	CA364391539	EYS	c.6241G>T (p.Asp2081Tyr)	gnomAD v4
6	g.64230775C>G	CA364391540	EYS	c.6241G>C (p.Asp2081His)
6	g.64230775C>T	CA364391541	EYS	c.6241G>A (p.Asp2081Asn)
6	g.64230776A>C	CA450758870	EYS	c.6240T>G (p.Ser2080=)
6	g.64230776A>G	CA450758871	EYS	c.6240T>C (p.Ser2080=)	ClinVar
6	g.64230776A>T	CA450758872	EYS	c.6240T>A (p.Ser2080=)
6	g.64230777G>A	CA364391542	EYS	c.6239C>T (p.Ser2080Phe)
6	g.64230777G>C	CA364391543	EYS	c.6239C>G (p.Ser2080Cys)
6	g.64230777G>T	CA364391544	EYS	c.6239C>A (p.Ser2080Tyr)
6	g.64230777_64230787del	CA913111500	EYS	c.6229_6239del (p.Val2077Ter)
6	g.64230777_64230787delinsGAAGCATCAAC	CA1633626698	EYS	c.6229_6239delinsGTTGATGCTTC (p.Val2077=)
6	g.64230778A>C	CA364391545	EYS	c.6238T>G (p.Ser2080Ala)
6	g.64230778A>G	CA364391546	EYS	c.6238T>C (p.Ser2080Pro)
6	g.64230778A>T	CA364391547	EYS	c.6238T>A (p.Ser2080Thr)
6	g.64230780_64230789del	CA658822023	EYS	c.6229_6238del (p.Val2077LeufsTer3)	ClinVar dbSNP
6	g.64230779A>C	CA450758873	EYS	c.6237T>G (p.Ala2079=)	gnomAD v4
6	g.64230779A>G	CA450758875	EYS	c.6237T>C (p.Ala2079=)
6	g.64230779A>T	CA450758874	EYS	c.6237T>A (p.Ala2079=)
6	g.64230780G>A	CA364391548	EYS	c.6236C>T (p.Ala2079Val)	dbSNP
6	g.64230780G>C	CA364391549	EYS	c.6236C>G (p.Ala2079Gly)
6	g.64230780G=	CA1633626699	EYS	c.6236C= (p.Ala2079=)
6	g.64230780G>T	CA364391550	EYS	c.6236C>A (p.Ala2079Asp)	gnomAD v4
6	g.64230781C>A	CA364391552	EYS	c.6235G>T (p.Ala2079Ser)
6	g.64230781C>G	CA364391553	EYS	c.6235G>C (p.Ala2079Pro)
6	g.64230781C>T	CA364391551	EYS	c.6235G>A (p.Ala2079Thr)	gnomAD v4
6	g.64230782A>C	CA364391554	EYS	c.6234T>G (p.Asp2078Glu)
6	g.64230782A>G	CA450758876	EYS	c.6234T>C (p.Asp2078=)
6	g.64230782A>T	CA364391555	EYS	c.6234T>A (p.Asp2078Glu)
6	g.64230783T>A	CA364391556	EYS	c.6233A>T (p.Asp2078Val)
6	g.64230783T>C	CA364391557	EYS	c.6233A>G (p.Asp2078Gly)
6	g.64230783T>G	CA364391558	EYS	c.6233A>C (p.Asp2078Ala)
6	g.64230784C>A	CA364391561	EYS	c.6232G>T (p.Asp2078Tyr)
6	g.64230784C>G	CA364391559	EYS	c.6232G>C (p.Asp2078His)
6	g.64230784C>T	CA364391560	EYS	c.6232G>A (p.Asp2078Asn)
6	g.64230785A>C	CA450758877	EYS	c.6231T>G (p.Val2077=)
6	g.64230785A>G	CA450758878	EYS	c.6231T>C (p.Val2077=)
6	g.64230785A>T	CA450758879	EYS	c.6231T>A (p.Val2077=)
6	g.64230786A>C	CA364391562	EYS	c.6230T>G (p.Val2077Gly)
6	g.64230786A>G	CA364391563	EYS	c.6230T>C (p.Val2077Ala)
6	g.64230786A>T	CA364391564	EYS	c.6230T>A (p.Val2077Asp)
6	g.64230787del	CA2679283470	EYS	c.6229del (p.Val2077LeufsTer6)	gnomAD v4
6	g.64230787C>A	CA364391565	EYS	c.6229G>T (p.Val2077Phe)
6	g.64230787C=	CA1633626700	EYS	c.6229G= (p.Val2077=)
6	g.64230787C>G	CA364391566	EYS	c.6229G>C (p.Val2077Leu)
6	g.64230787C>T	CA364391567	EYS	c.6229G>A (p.Val2077Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.64230788A>C	CA364391569	EYS	c.6228T>G (p.Phe2076Leu)	gnomAD v4
6	g.64230788A>G	CA450758880	EYS	c.6228T>C (p.Phe2076=)
6	g.64230788A>T	CA364391568	EYS	c.6228T>A (p.Phe2076Leu)
6	g.64230789A>C	CA364391570	EYS	c.6227T>G (p.Phe2076Cys)
6	g.64230789A>G	CA364391571	EYS	c.6227T>C (p.Phe2076Ser)
6	g.64230789A>T	CA364391572	EYS	c.6227T>A (p.Phe2076Tyr)
6	g.64230790A>C	CA364391573	EYS	c.6226T>G (p.Phe2076Val)
6	g.64230790A>G	CA364391574	EYS	c.6226T>C (p.Phe2076Leu)	gnomAD v4
6	g.64230790A>T	CA364391575	EYS	c.6226T>A (p.Phe2076Ile)
6	g.64230791G>A	CA450758881	EYS	c.6225C>T (p.Ser2075=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.64230791G>C	CA450758882	EYS	c.6225C>G (p.Ser2075=)
6	g.64230791G=	CA1633626701	EYS	c.6225C= (p.Ser2075=)
6	g.64230791G>T	CA450758883	EYS	c.6225C>A (p.Ser2075=)
6	g.64230792G>A	CA364391578	EYS	c.6224C>T (p.Ser2075Phe)	COSMIC
6	g.64230792G>C	CA364391577	EYS	c.6224C>G (p.Ser2075Cys)	gnomAD v4
6	g.64230792G>T	CA364391576	EYS	c.6224C>A (p.Ser2075Tyr)
6	g.64230793A>C	CA364391579	EYS	c.6223T>G (p.Ser2075Ala)	gnomAD v4
6	g.64230793A>G	CA364391580	EYS	c.6223T>C (p.Ser2075Pro)
6	g.64230793A>T	CA364391581	EYS	c.6223T>A (p.Ser2075Thr)
6	g.64230794G>A	CA450758884	EYS	c.6222C>T (p.Ala2074=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230794G>C	CA450758885	EYS	c.6222C>G (p.Ala2074=)
6	g.64230794G=	CA1633626702	EYS	c.6222C= (p.Ala2074=)
6	g.64230794G>T	CA450758886	EYS	c.6222C>A (p.Ala2074=)
6	g.64230795G>A	CA364391582	EYS	c.6221C>T (p.Ala2074Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230795G>C	CA364391583	EYS	c.6221C>G (p.Ala2074Gly)
6	g.64230795G=	CA1633626703	EYS	c.6221C= (p.Ala2074=)
6	g.64230795G>T	CA364391584	EYS	c.6221C>A (p.Ala2074Asp)
6	g.64230796C>A	CA364391585	EYS	c.6220G>T (p.Ala2074Ser)
6	g.64230796C=	CA1633626704	EYS	c.6220G= (p.Ala2074=)
6	g.64230796C>G	CA364391587	EYS	c.6220G>C (p.Ala2074Pro)
6	g.64230796C>T	CA364391586	EYS	c.6220G>A (p.Ala2074Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.64230797T>A	CA450758889	EYS	c.6219A>T (p.Thr2073=)
6	g.64230797T>C	CA450758888	EYS	c.6219A>G (p.Thr2073=)
6	g.64230797T>G	CA450758887	EYS	c.6219A>C (p.Thr2073=)
6	g.64230798G>A	CA364391588	EYS	c.6218C>T (p.Thr2073Ile)
6	g.64230798G>C	CA364391589	EYS	c.6218C>G (p.Thr2073Arg)
6	g.64230798G>T	CA364391590	EYS	c.6218C>A (p.Thr2073Lys)
6	g.64230798_64230799insGAAGAGCAGGGATGAATCAGA	CA2771469814	EYS	c.6217_6218insTCTGATTCATCCCTGCTCTTC (p.Thr2073IlefsTer2)
6	g.64230799T>A	CA364391591	EYS	c.6217A>T (p.Thr2073Ser)
6	g.64230799T>C	CA364391592	EYS	c.6217A>G (p.Thr2073Ala)
6	g.64230799T>G	CA364391593	EYS	c.6217A>C (p.Thr2073Pro)
6	g.64230800T>A	CA450758890	EYS	c.6216A>T (p.Pro2072=)
6	g.64230800T>C	CA450758891	EYS	c.6216A>G (p.Pro2072=)
6	g.64230800T>G	CA450758892	EYS	c.6216A>C (p.Pro2072=)
6	g.64230800_64230802del	CA2771469815	EYS	c.6214_6216del (p.Pro2072del)
6	g.64230801G>A	CA364391594	EYS	c.6215C>T (p.Pro2072Leu)	gnomAD v4
6	g.64230801G>C	CA364391595	EYS	c.6215C>G (p.Pro2072Arg)
6	g.64230801G>T	CA364391596	EYS	c.6215C>A (p.Pro2072Gln)
6	g.64230802G>A	CA364391597	EYS	c.6214C>T (p.Pro2072Ser)
6	g.64230802G>C	CA364391598	EYS	c.6214C>G (p.Pro2072Ala)	ClinVar dbSNP gnomAD v4
6	g.64230802G=	CA1633626705	EYS	c.6214C= (p.Pro2072=)
6	g.64230802G>T	CA364391599	EYS	c.6214C>A (p.Pro2072Thr)
6	g.64230803A>C	CA450758893	EYS	c.6213T>G (p.Ser2071=)
6	g.64230803A>G	CA450758895	EYS	c.6213T>C (p.Ser2071=)	ClinVar
6	g.64230803A>T	CA450758894	EYS	c.6213T>A (p.Ser2071=)
6	g.64230804G>A	CA364391602	EYS	c.6212C>T (p.Ser2071Phe)
6	g.64230804G>C	CA364391600	EYS	c.6212C>G (p.Ser2071Cys)
6	g.64230804G>T	CA364391601	EYS	c.6212C>A (p.Ser2071Tyr)
6	g.64230805A>C	CA364391603	EYS	c.6211T>G (p.Ser2071Ala)
6	g.64230805A>G	CA364391604	EYS	c.6211T>C (p.Ser2071Pro)
6	g.64230805A>T	CA364391605	EYS	c.6211T>A (p.Ser2071Thr)

Number of alleles fetched