Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
6	g.64230806C>A	CA450758896	EYS	c.6210G>T (p.Leu2070=)
6	g.64230806C=	CA1633626706	EYS	c.6210G= (p.Leu2070=)
6	g.64230806C>G	CA450758897	EYS	c.6210G>C (p.Leu2070=)
6	g.64230806C>T	CA450758898	EYS	c.6210G>A (p.Leu2070=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230807A=	CA1633626707	EYS	c.6209T= (p.Leu2070=)
6	g.64230807A>C	CA364391606	EYS	c.6209T>G (p.Leu2070Arg)
6	g.64230807A>G	CA364391607	EYS	c.6209T>C (p.Leu2070Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230807A>T	CA364391608	EYS	c.6209T>A (p.Leu2070Gln)
6	g.64230808G>A	CA450758899	EYS	c.6208C>T (p.Leu2070=)	gnomAD v4
6	g.64230808G>C	CA364391610	EYS	c.6208C>G (p.Leu2070Val)
6	g.64230808G>T	CA364391609	EYS	c.6208C>A (p.Leu2070Met)
6	g.64230809C>A	CA364391611	EYS	c.6207G>T (p.Met2069Ile)	gnomAD v4
6	g.64230809C>G	CA364391612	EYS	c.6207G>C (p.Met2069Ile)
6	g.64230809C>T	CA364391613	EYS	c.6207G>A (p.Met2069Ile)	gnomAD v4
6	g.64230809_64230811del	CA2578660043	EYS	c.6205_6207del (p.Met2069del)
6	g.64230810A>C	CA364391614	EYS	c.6206T>G (p.Met2069Arg)
6	g.64230810A>G	CA364391615	EYS	c.6206T>C (p.Met2069Thr)
6	g.64230810A>T	CA364391616	EYS	c.6206T>A (p.Met2069Lys)
6	g.64230811T>A	CA364391619	EYS	c.6205A>T (p.Met2069Leu)
6	g.64230811T>C	CA364391617	EYS	c.6205A>G (p.Met2069Val)
6	g.64230811T>G	CA364391618	EYS	c.6205A>C (p.Met2069Leu)
6	g.64230812A=	CA1633626708	EYS	c.6204T= (p.Phe2068=)
6	g.64230812A>C	CA364391620	EYS	c.6204T>G (p.Phe2068Leu)	dbSNP
6	g.64230812A>G	CA140296101	EYS	c.6204T>C (p.Phe2068=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230812A>T	CA364391621	EYS	c.6204T>A (p.Phe2068Leu)
6	g.64230812_64230813insCT	CA2771469816	EYS	c.6203_6204insAG (p.Phe2068LeufsTer16)
6	g.64230813A>C	CA364391622	EYS	c.6203T>G (p.Phe2068Cys)
6	g.64230813A>G	CA364391623	EYS	c.6203T>C (p.Phe2068Ser)	gnomAD v4
6	g.64230813A>T	CA364391624	EYS	c.6203T>A (p.Phe2068Tyr)
6	g.64230814A>C	CA364391625	EYS	c.6202T>G (p.Phe2068Val)
6	g.64230814A>G	CA364391626	EYS	c.6202T>C (p.Phe2068Leu)
6	g.64230814A>T	CA364391627	EYS	c.6202T>A (p.Phe2068Ile)
6	g.64230814_64230815del	CA2771469817	EYS	c.6201_6202del (p.Phe2068TyrfsTer10)
6	g.64230816_64230817insACAGATC	CA2679283471	EYS	c.6202_6203insCTGTGAT (p.Phe2068SerfsTer13)	gnomAD v4
6	g.64230815T>A	CA450758900	EYS	c.6201A>T (p.Gly2067=)	dbSNP gnomAD v4
6	g.64230815T>C	CA450758901	EYS	c.6201A>G (p.Gly2067=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230815T>G	CA450758902	EYS	c.6201A>C (p.Gly2067=)
6	g.64230815T=	CA1633626709	EYS	c.6201A= (p.Gly2067=)
6	g.64230816_64230819del	CA2695206601	EYS	c.6198_6201del (p.Gln2066HisfsTer16)
6	g.64230816C>A	CA364391628	EYS	c.6200G>T (p.Gly2067Val)	gnomAD v4
6	g.64230816C>G	CA364391629	EYS	c.6200G>C (p.Gly2067Ala)
6	g.64230816C>T	CA364391630	EYS	c.6200G>A (p.Gly2067Glu)
6	g.64230817C>A	CA364391631	EYS	c.6199G>T (p.Gly2067Ter)	gnomAD v4
6	g.64230817C=	CA1633626710	EYS	c.6199G= (p.Gly2067=)
6	g.64230817C>G	CA364391632	EYS	c.6199G>C (p.Gly2067Arg)	dbSNP
6	g.64230817C>T	CA140296102	EYS	c.6199G>A (p.Gly2067Arg)	dbSNP gnomAD v4
6	g.64230817_64230818insA	CA2771469818	EYS	c.6198_6199insT (p.Gly2067TrpfsTer12)
6	g.64230818C>A	CA364391633	EYS	c.6198G>T (p.Gln2066His)	gnomAD v4
6	g.64230818C>G	CA364391634	EYS	c.6198G>C (p.Gln2066His)
6	g.64230818C>T	CA450758903	EYS	c.6198G>A (p.Gln2066=)
6	g.64230819T>A	CA364391635	EYS	c.6197A>T (p.Gln2066Leu)	gnomAD v4
6	g.64230819T>C	CA140296103	EYS	c.6197A>G (p.Gln2066Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230819T>G	CA140296104	EYS	c.6197A>C (p.Gln2066Pro)	dbSNP gnomAD v4
6	g.64230819T=	CA1633626711	EYS	c.6197A= (p.Gln2066=)
6	g.64230819_64230820del	CA2771469819	EYS	c.6196_6197del (p.Gln2066GlyfsTer12)
6	g.64230819_64230820delinsTG	CA1633626712	EYS	c.6196_6197delinsCA (p.Gln2066=)
6	g.64230820G>A	CA364391636	EYS	c.6196C>T (p.Gln2066Ter)	gnomAD v4
6	g.64230820G>C	CA364391637	EYS	c.6196C>G (p.Gln2066Glu)
6	g.64230820G>T	CA364391638	EYS	c.6196C>A (p.Gln2066Lys)	gnomAD v4
6	g.64230822del	CA827005624	EYS	c.6196del (p.Gln2066ArgfsTer17)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230821G>A	CA450758904	EYS	c.6195C>T (p.Ser2065=)
6	g.64230821G>C	CA450758905	EYS	c.6195C>G (p.Ser2065=)
6	g.64230821G>T	CA450758906	EYS	c.6195C>A (p.Ser2065=)
6	g.64230822G>A	CA364391641	EYS	c.6194C>T (p.Ser2065Phe)
6	g.64230822G>C	CA364391639	EYS	c.6194C>G (p.Ser2065Cys)
6	g.64230822G>T	CA364391640	EYS	c.6194C>A (p.Ser2065Tyr)
6	g.64230823A=	CA1633626713	EYS	c.6193T= (p.Ser2065=)
6	g.64230823A>C	CA364391642	EYS	c.6193T>G (p.Ser2065Ala)
6	g.64230823A>G	CA364391643	EYS	c.6193T>C (p.Ser2065Pro)
6	g.64230823A>T	CA3876933	EYS	c.6193T>A (p.Ser2065Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230823_64230824insCAT	CA2771469820	EYS	c.6192_6193insATG (p.Arg2064_Ser2065insMet)
6	g.64230824T>A	CA364391644	EYS	c.6192A>T (p.Arg2064Ser)
6	g.64230824T>C	CA450758907	EYS	c.6192A>G (p.Arg2064=)
6	g.64230824T>G	CA364391645	EYS	c.6192A>C (p.Arg2064Ser)
6	g.64230824_64230825insA	CA2771469822	EYS	c.6192-1_6192insT (n.6192-1_6192insT)
6	g.64230825C>A	CA3876934	EYS	c.6192-1G>T (n.6192-1G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230825C=	CA1633626714	EYS	c.6192-1G= (n.6192-1G=)
6	g.64230825C>G	CA364391647	EYS	c.6192-1G>C (n.6192-1G>C)	dbSNP
6	g.64230825C>T	CA364391646	EYS	c.6192-1G>A (n.6192-1G>A)	ClinVar gnomAD v4
6	g.64230825_64230837del	CA2771469821	EYS	c.6192-13_6192-1del (n.6192-13_6192-1del)
6	g.64230826T>A	CA364391648	EYS	c.6192-2A>T (n.6192-2A>T)
6	g.64230826T>C	CA140296105	EYS	c.6192-2A>G (n.6192-2A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230826T>G	CA364391649	EYS	c.6192-2A>C (n.6192-2A>C)
6	g.64230826T=	CA1633626715	EYS	c.6192-2A= (n.6192-2A=)
6	g.64230827G>A	CA2578660044	EYS	c.6192-3C>T (n.6192-3C>T)	gnomAD v4
6	g.64230828T>C	CA2578660045	EYS	c.6192-4A>G (n.6192-4A>G)	ClinVar
6	g.64230828_64230829insA	CA2771469823	EYS	c.6192-5_6192-4insT (n.6192-5_6192-4insT)
6	g.64230829G>A	CA2679283472	EYS	c.6192-5C>T (n.6192-5C>T)	gnomAD v4
6	g.64230829G>C	CA2771469824	EYS	c.6192-5C>G (n.6192-5C>G)
6	g.64230829G>T	CA2679283473	EYS	c.6192-5C>A (n.6192-5C>A)	gnomAD v4
6	g.64230830A=	CA1633626716	EYS	c.6192-6T= (n.6192-6T=)
6	g.64230830A>C	CA2679283474	EYS	c.6192-6T>G (n.6192-6T>G)	gnomAD v4
6	g.64230830A>G	CA827005635	EYS	c.6192-6T>C (n.6192-6T>C)	ClinVar dbSNP gnomAD v4
6	g.64230830A>T	CA2580075632	EYS	c.6192-6T>A (n.6192-6T>A)	ClinVar
6	g.64230831T>G	CA2580075633	EYS	c.6192-7A>C (n.6192-7A>C)	ClinVar
6	g.64230832T>C	CA2679283475	EYS	c.6192-8A>G (n.6192-8A>G)	gnomAD v4
6	g.64230833T>G	CA2573140995	EYS	c.6192-9A>C (n.6192-9A>C)	ClinVar dbSNP
6	g.64230833_64230837del	CA2771469825	EYS	c.6192-13_6192-9del (n.6192-13_6192-9del)
6	g.64230833_64230839del	CA2771469826	EYS	c.6192-15_6192-9del (n.6192-15_6192-9del)
6	g.64230834A>G	CA2580075635	EYS	c.6192-10T>C (n.6192-10T>C)	ClinVar gnomAD v4
6	g.64230834_64230835insCT	CA2771469827	EYS	c.6192-11_6192-10insAG (n.6192-11_6192-10insAG)
6	g.64230836A>G	CA2679283476	EYS	c.6192-12T>C (n.6192-12T>C)	gnomAD v4
6	g.64230837A=	CA1633626717	EYS	c.6192-13T= (n.6192-13T=)
6	g.64230837A>C	CA140296106	EYS	c.6192-13T>G (n.6192-13T>G)	dbSNP gnomAD v3 gnomAD v4
6	g.64230838A>G	CA2697553517	EYS	c.6192-14T>C (n.6192-14T>C)	ClinVar
6	g.64230839C>A	CA2679283477	EYS	c.6192-15G>T (n.6192-15G>T)	gnomAD v4
6	g.64230839C>G	CA2578660046	EYS	c.6192-15G>C (n.6192-15G>C)	gnomAD v4
6	g.64230840A>C	CA2679283478	EYS	c.6192-16T>G (n.6192-16T>G)	gnomAD v4
6	g.64230840A>G	CA2679283479	EYS	c.6192-16T>C (n.6192-16T>C)	gnomAD v4
6	g.64230841G>A	CA2580075636	EYS	c.6192-17C>T (n.6192-17C>T)	ClinVar gnomAD v4
6	g.64230841G>T	CA2679283480	EYS	c.6192-17C>A (n.6192-17C>A)	gnomAD v4
6	g.64230842A>G	CA2739273141	EYS	c.6192-18T>C (n.6192-18T>C)	ClinVar
6	g.64230842A>T	CA2771469828	EYS	c.6192-18T>A (n.6192-18T>A)
6	g.64230843C>A	CA2679283481	EYS	c.6192-19G>T (n.6192-19G>T)	gnomAD v4
6	g.64230843C>T	CA2679283482	EYS	c.6192-19G>A (n.6192-19G>A)	gnomAD v4
6	g.64230846_64230849del	CA2771469829	EYS	c.6192-23_6192-20del (n.6192-23_6192-20del)
6	g.64230845A=	CA1633626718	EYS	c.6192-21T= (n.6192-21T=)
6	g.64230845A>C	CA2771469830	EYS	c.6192-21T>G (n.6192-21T>G)
6	g.64230845A>G	CA3876935	EYS	c.6192-21T>C (n.6192-21T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched