Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20188873T>C	CA608984134	GJB2	c.28A>G (n.28A>G)	dbSNP gnomAD v2 gnomAD v4
13	g.20188873T=	CA2077138529	GJB2	c.28A= (n.28A=)
13	g.20188876C>A	CA953781376	GJB2	c.25G>T (n.25G>T)	dbSNP gnomAD v3 gnomAD v4
13	g.20188876C=	CA2077138532	GJB2	c.25G= (n.25G=)
13	g.20188878T>C	CA2622252032	GJB2	c.23A>G (n.23A>G)	gnomAD v4
13	g.20188879A>T	CA2622252033	GJB2	c.22T>A (n.22T>A)	gnomAD v4
13	g.20188882C=	CA2077138535	GJB2	c.19G= (n.19G=)
13	g.20188882C>G	CA2077138536	GJB2	c.19G>C (n.19G>C)	dbSNP
13	g.20188884A>G	CA2798416345	GJB2	c.17T>C (n.17T>C)
13	g.20188886C=	CA2077138538	GJB2	c.15G= (n.15G=)
13	g.20188886C>T	CA608984135	GJB2	c.15G>A (n.15G>A)	dbSNP gnomAD v2 gnomAD v4
13	g.20188887A=	CA2077138540	GJB2	c.14T= (n.14T=)
13	g.20188887A>C	CA608984136	GJB2	c.14T>G (n.14T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188887_20188892del	CA2622252038	GJB2	c.9_14del (n.9_14del)	gnomAD v4
13	g.20188888A>C	CA2622252041	GJB2	c.13T>G (n.13T>G)	gnomAD v4
13	g.20188888A>G	CA2622252043	GJB2	c.13T>C (n.13T>C)	gnomAD v4
13	g.20188889C>T	CA2622252045	GJB2	c.12G>A (n.12G>A)	gnomAD v4
13	g.20188890T>C	CA2622252047	GJB2	c.11A>G (n.11A>G)	gnomAD v4
13	g.20188891G>A	CA2622252050	GJB2	c.10C>T (n.10C>T)	gnomAD v4
13	g.20188891G>C	CA2575364776	GJB2	c.10C>G (n.10C>G)
13	g.20188891G>T	CA2575364777	GJB2	c.10C>A (n.10C>A)	gnomAD v4
13	g.20188892G>C	CA6904205	GJB2	c.9C>G (n.9C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188892G=	CA2077138543	GJB2	c.9C= (n.9C=)
13	g.20188892G>T	CA2575364778	GJB2	c.9C>A (n.9C>A)
13	g.20188893G>T	CA2622252052	GJB2	c.8C>A (n.8C>A)	gnomAD v4
13	g.20188894C>A	CA2622252054	GJB2	c.7G>T (n.7G>T)	gnomAD v4
13	g.20188894C=	CA2077138546	GJB2	c.7G= (n.7G=)
13	g.20188894C>T	CA608984137	GJB2	c.7G>A (n.7G>A)	dbSNP gnomAD v2 gnomAD v4
13	g.20188894_20188895insTT	CA2622252056	GJB2	c.6_7insAA (n.6_7insAA)	gnomAD v4
13	g.20188896A>C	CA2622252058	GJB2	c.5T>G (n.5T>G)	gnomAD v4
13	g.20188896A>G	CA2622252060	GJB2	c.5T>C (n.5T>C)	gnomAD v4
13	g.20188897T>C	CA6904206	GJB2	c.4A>G (n.4A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188897T>G	CA2622252064	GJB2	c.4A>C (n.4A>C)	gnomAD v4
13	g.20188897T=	CA2077138549	GJB2	c.4A= (n.4A=)
13	g.20188897_20188898insCTAACAAAAAA	CA2622252069	GJB2	c.3_4insTTTTTTGTTAG (n.3_4insTTTTTTGTTAG)	gnomAD v4
13	g.20188898G>A	CA608984138	GJB2	c.3C>T (n.3C>T)	dbSNP gnomAD v2 gnomAD v4
13	g.20188898G=	CA2077138553	GJB2	c.3C= (n.3C=)
13	g.20188898G>T	CA134941	GJB2	c.3C>A (n.3C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188899C>A	CA2622252073	GJB2	c.2G>T (n.2G>T)	gnomAD v4
13	g.20188899C=	CA2077138557	GJB2	c.2G= (n.2G=)
13	g.20188899C>T	CA6904207	GJB2	c.2G>A (n.2G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188900G>A	CA134940	GJB2	c.1C>T (n.1C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188900G=	CA2077138562	GJB2	c.1C= (n.1C=)
13	g.20188900G>T	CA2525654516	GJB2	c.1C>A (n.1C>A)
13	g.20188901T>A	CA387460656	GJB2	c.681A>T (p.Ter227Tyr)
13	g.20188901T>C	CA483154195	GJB2	c.681A>G (p.Ter227=)
13	g.20188901T>G	CA387460655	GJB2	c.681A>C (p.Ter227Tyr)
13	g.20188902T>A	CA387460657	GJB2	c.680A>T (p.Ter227Leu)
13	g.20188902T>C	CA6904208	GJB2	c.680A>G (p.Ter227=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188902T>G	CA387460658	GJB2	c.680A>C (p.Ter227Ser)
13	g.20188902T=	CA2077138566	GJB2	c.680A= (p.Ter227=)
13	g.20188903A>C	CA387460659	GJB2	c.679T>G (p.Ter227Glu)	gnomAD v4
13	g.20188903A>G	CA387460660	GJB2	c.679T>C (p.Ter227Gln)
13	g.20188903A>T	CA387460661	GJB2	c.679T>A (p.Ter227Lys)
13	g.20188904A>C	CA483154198	GJB2	c.678T>G (p.Val226=)	gnomAD v4
13	g.20188904A>G	CA483154200	GJB2	c.678T>C (p.Val226=)
13	g.20188904A>T	CA483154202	GJB2	c.678T>A (p.Val226=)
13	g.20188905A=	CA2077138571	GJB2	c.677T= (p.Val226=)
13	g.20188905A>C	CA6904209	GJB2	c.677T>G (p.Val226Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188905A>G	CA387460662	GJB2	c.677T>C (p.Val226Ala)
13	g.20188905A>T	CA387460663	GJB2	c.677T>A (p.Val226Asp)	ClinVar dbSNP gnomAD v4
13	g.20188906C>A	CA387460664	GJB2	c.676G>T (p.Val226Phe)
13	g.20188906C=	CA2077138578	GJB2	c.676G= (p.Val226=)
13	g.20188906C>G	CA387460665	GJB2	c.676G>C (p.Val226Leu)
13	g.20188906C>T	CA6904210	GJB2	c.676G>A (p.Val226Ile)	dbSNP ExAC
13	g.20188907T>A	CA6904211	GJB2	c.675A>T (p.Pro225=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188907T>C	CA483154205	GJB2	c.675A>G (p.Pro225=)	gnomAD v4
13	g.20188907T>G	CA483154207	GJB2	c.675A>C (p.Pro225=)	gnomAD v4
13	g.20188907T=	CA2077138583	GJB2	c.675A= (p.Pro225=)
13	g.20188908G>A	CA387460667	GJB2	c.674C>T (p.Pro225Leu)	ClinVar dbSNP
13	g.20188908G>C	CA387460668	GJB2	c.674C>G (p.Pro225Arg)
13	g.20188908G=	CA2077138588	GJB2	c.674C= (p.Pro225=)
13	g.20188908G>T	CA387460666	GJB2	c.674C>A (p.Pro225Gln)
13	g.20188909G>A	CA387460671	GJB2	c.673C>T (p.Pro225Ser)	COSMIC
13	g.20188909G>C	CA387460669	GJB2	c.673C>G (p.Pro225Ala)
13	g.20188909G>T	CA387460670	GJB2	c.673C>A (p.Pro225Thr)
13	g.20188910C>A	CA387460672	GJB2	c.672G>T (p.Lys224Asn)
13	g.20188910C=	CA2077138594	GJB2	c.672G= (p.Lys224=)
13	g.20188910C>G	CA387460673	GJB2	c.672G>C (p.Lys224Asn)
13	g.20188910C>T	CA6904212	GJB2	c.672G>A (p.Lys224=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188910_20188914del	CA912980092	GJB2	c.668_672del (p.Lys223ThrfsTer?)
13	g.20188910_20188914delinsCTTTT	CA2077138596	GJB2	c.668_672delinsAAAAG (p.Lys223=)
13	g.20188911T>A	CA387460674	GJB2	c.671A>T (p.Lys224Met)
13	g.20188911T>C	CA387460675	GJB2	c.671A>G (p.Lys224Arg)
13	g.20188911T>G	CA387460676	GJB2	c.671A>C (p.Lys224Thr)
13	g.20188916dup	CA645587643	GJB2	c.671dup (p.Pro225AlafsTer?)	gnomAD v4 COSMIC
13	g.20188916del	CA2622252099	GJB2	c.671del (p.Lys224SerfsTer10)	gnomAD v4
13	g.20188913_20188916del	CA658823443	GJB2	c.668_671del (p.Lys223SerfsTer10)	ClinVar dbSNP
13	g.20188911_20188912insA	CA483154211	GJB2	c.670_671insT (p.Lys224IlefsTer?)
13	g.20188912T>A	CA387460677	GJB2	c.670A>T (p.Lys224Ter)	gnomAD v4
13	g.20188912T>C	CA387460678	GJB2	c.670A>G (p.Lys224Glu)
13	g.20188912T>G	CA134995	GJB2	c.670A>C (p.Lys224Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188912T=	CA2077138603	GJB2	c.670A= (p.Lys224=)
13	g.20188913T>A	CA387460679	GJB2	c.669A>T (p.Lys223Asn)
13	g.20188913T>C	CA483154212	GJB2	c.669A>G (p.Lys223=)
13	g.20188913T>G	CA387460680	GJB2	c.669A>C (p.Lys223Asn)
13	g.20188914T>A	CA387460681	GJB2	c.668A>T (p.Lys223Ile)
13	g.20188914T>C	CA387460683	GJB2	c.668A>G (p.Lys223Arg)
13	g.20188914T>G	CA387460682	GJB2	c.668A>C (p.Lys223Thr)
13	g.20188915T>A	CA387460684	GJB2	c.667A>T (p.Lys223Ter)
13	g.20188915T>C	CA387460685	GJB2	c.667A>G (p.Lys223Glu)
13	g.20188915T>G	CA387460686	GJB2	c.667A>C (p.Lys223Gln)
13	g.20188916T>A	CA483154214	GJB2	c.666A>T (p.Ser222=)
13	g.20188916T>C	CA483154215	GJB2	c.666A>G (p.Ser222=)
13	g.20188916T>G	CA483154217	GJB2	c.666A>C (p.Ser222=)
13	g.20188917G>A	CA387460687	GJB2	c.665C>T (p.Ser222Leu)
13	g.20188917G>C	CA387460688	GJB2	c.665C>G (p.Ser222Ter)	gnomAD v4
13	g.20188917G=	CA2077138608	GJB2	c.665C= (p.Ser222=)
13	g.20188917G>T	CA6904213	GJB2	c.665C>A (p.Ser222Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188918A=	CA2077138612	GJB2	c.664T= (p.Ser222=)
13	g.20188918A>C	CA387460689	GJB2	c.664T>G (p.Ser222Ala)
13	g.20188918A>G	CA387460690	GJB2	c.664T>C (p.Ser222Pro)
13	g.20188918A>T	CA6904214	GJB2	c.664T>A (p.Ser222Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188919C>A	CA387460691	GJB2	c.663G>T (p.Lys221Asn)
13	g.20188919C=	CA2077138615	GJB2	c.663G= (p.Lys221=)
13	g.20188919C>G	CA134993	GJB2	c.663G>C (p.Lys221Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188919C>T	CA483154220	GJB2	c.663G>A (p.Lys221=)
13	g.20188920T>A	CA387460693	GJB2	c.662A>T (p.Lys221Met)
13	g.20188920T>C	CA387460694	GJB2	c.662A>G (p.Lys221Arg)
13	g.20188920T>G	CA387460692	GJB2	c.662A>C (p.Lys221Thr)
13	g.20188921T>A	CA387460695	GJB2	c.661A>T (p.Lys221Ter)
13	g.20188921T>C	CA387460696	GJB2	c.661A>G (p.Lys221Glu)	gnomAD v4
13	g.20188921T>G	CA387460697	GJB2	c.661A>C (p.Lys221Gln)
13	g.20188922C>A	CA483154224	GJB2	c.660G>T (p.Gly220=)
13	g.20188922C=	CA2077138618	GJB2	c.660G= (p.Gly220=)
13	g.20188922C>G	CA483154223	GJB2	c.660G>C (p.Gly220=)
13	g.20188922C>T	CA483154221	GJB2	c.660G>A (p.Gly220=)	dbSNP gnomAD v3 gnomAD v4
13	g.20188923C>A	CA387460698	GJB2	c.659G>T (p.Gly220Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188923C=	CA2077138620	GJB2	c.659G= (p.Gly220=)
13	g.20188923C>G	CA387460699	GJB2	c.659G>C (p.Gly220Ala)
13	g.20188923C>T	CA387460700	GJB2	c.659G>A (p.Gly220Glu)	dbSNP gnomAD v4
13	g.20188924C>A	CA387460701	GJB2	c.658G>T (p.Gly220Trp)
13	g.20188924C>G	CA387460702	GJB2	c.658G>C (p.Gly220Arg)
13	g.20188924C>T	CA387460703	GJB2	c.658G>A (p.Gly220Arg)
13	g.20188925A>C	CA483154226	GJB2	c.657T>G (p.Ser219=)	gnomAD v4
13	g.20188925A>G	CA483154228	GJB2	c.657T>C (p.Ser219=)
13	g.20188925A>T	CA483154230	GJB2	c.657T>A (p.Ser219=)
13	g.20188926G>A	CA6904215	GJB2	c.656C>T (p.Ser219Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188926G>C	CA387460704	GJB2	c.656C>G (p.Ser219Cys)
13	g.20188926G=	CA2077138623	GJB2	c.656C= (p.Ser219=)
13	g.20188926G>T	CA387460705	GJB2	c.656C>A (p.Ser219Tyr)
13	g.20188927A>C	CA387460707	GJB2	c.655T>G (p.Ser219Ala)
13	g.20188927A>G	CA387460708	GJB2	c.655T>C (p.Ser219Pro)
13	g.20188927A>T	CA387460706	GJB2	c.655T>A (p.Ser219Thr)	gnomAD v4
13	g.20188928A>C	CA387460709	GJB2	c.654T>G (p.Cys218Trp)
13	g.20188928A>G	CA483154232	GJB2	c.654T>C (p.Cys218=)
13	g.20188928A>T	CA387460710	GJB2	c.654T>A (p.Cys218Ter)
13	g.20188929C>A	CA387460711	GJB2	c.653G>T (p.Cys218Phe)
13	g.20188929C=	CA2077138627	GJB2	c.653G= (p.Cys218=)
13	g.20188929C>G	CA387460712	GJB2	c.653G>C (p.Cys218Ser)
13	g.20188929C>T	CA6904216	GJB2	c.653G>A (p.Cys218Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188930A=	CA2077138630	GJB2	c.652T= (p.Cys218=)
13	g.20188930A>C	CA387460715	GJB2	c.652T>G (p.Cys218Gly)
13	g.20188930A>G	CA387460714	GJB2	c.652T>C (p.Cys218Arg)	dbSNP gnomAD v3 gnomAD v4
13	g.20188930A>T	CA387460713	GJB2	c.652T>A (p.Cys218Ser)	dbSNP gnomAD v2 gnomAD v4
13	g.20188931A=	CA2077138634	GJB2	c.651T= (p.Tyr217=)
13	g.20188931A>C	CA387460716	GJB2	c.651T>G (p.Tyr217Ter)
13	g.20188931A>G	CA6904217	GJB2	c.651T>C (p.Tyr217=)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188931A>T	CA387460717	GJB2	c.651T>A (p.Tyr217Ter)
13	g.20188931_20188935delinsATATC	CA2077138633	GJB2	c.647_651delinsGATAT (p.Arg216=)
13	g.20188932T>A	CA387460718	GJB2	c.650A>T (p.Tyr217Phe)
13	g.20188932T>C	CA246459675	GJB2	c.650A>G (p.Tyr217Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188932T>G	CA387460719	GJB2	c.650A>C (p.Tyr217Ser)
13	g.20188932T=	CA2077138640	GJB2	c.650A= (p.Tyr217=)
13	g.20188934_20188937del	CA172239	GJB2	c.647_650del (p.Arg216IlefsTer17)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188933A=	CA2077138647	GJB2	c.649T= (p.Tyr217=)
13	g.20188933A>C	CA6904218	GJB2	c.649T>G (p.Tyr217Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188933A>G	CA387460721	GJB2	c.649T>C (p.Tyr217His)
13	g.20188933A>T	CA387460720	GJB2	c.649T>A (p.Tyr217Asn)
13	g.20188934T>A	CA387460722	GJB2	c.648A>T (p.Arg216Ser)
13	g.20188934T>C	CA483154235	GJB2	c.648A>G (p.Arg216=)	dbSNP gnomAD v2
13	g.20188934T>G	CA387460723	GJB2	c.648A>C (p.Arg216Ser)	dbSNP
13	g.20188934T=	CA2077138651	GJB2	c.648A= (p.Arg216=)
13	g.20188935C>A	CA6904219	GJB2	c.647G>T (p.Arg216Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188935C=	CA2077138654	GJB2	c.647G= (p.Arg216=)
13	g.20188935C>G	CA387460725	GJB2	c.647G>C (p.Arg216Thr)
13	g.20188935C>T	CA387460724	GJB2	c.647G>A (p.Arg216Lys)	gnomAD v4
13	g.20188936T>A	CA387460726	GJB2	c.646A>T (p.Arg216Ter)	gnomAD v4
13	g.20188936T>C	CA387460727	GJB2	c.646A>G (p.Arg216Gly)	dbSNP gnomAD v4
13	g.20188936T>G	CA483154236	GJB2	c.646A>C (p.Arg216=)	ClinVar dbSNP
13	g.20188936T=	CA2077138658	GJB2	c.646A= (p.Arg216=)
13	g.20188936_20188937delinsTA	CA2077138661	GJB2	c.645_646delinsTA (p.Ile215=)
13	g.20188937A=	CA2077138666	GJB2	c.645T= (p.Ile215=)
13	g.20188937A>C	CA387460728	GJB2	c.645T>G (p.Ile215Met)	dbSNP gnomAD v2 gnomAD v4
13	g.20188937A>G	CA6904220	GJB2	c.645T>C (p.Ile215=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188937A>T	CA483154237	GJB2	c.645T>A (p.Ile215=)
13	g.20188938del	CA658656317	GJB2	c.645del (p.Arg216AspfsTer18)	ClinVar dbSNP
13	g.20188938A>C	CA387460729	GJB2	c.644T>G (p.Ile215Ser)
13	g.20188938A>G	CA387460730	GJB2	c.644T>C (p.Ile215Thr)
13	g.20188938A>T	CA387460731	GJB2	c.644T>A (p.Ile215Asn)
13	g.20188939T>A	CA387460732	GJB2	c.643A>T (p.Ile215Phe)
13	g.20188939T>C	CA387460733	GJB2	c.643A>G (p.Ile215Val)
13	g.20188939T>G	CA387460734	GJB2	c.643A>C (p.Ile215Leu)
13	g.20188940T>A	CA483154241	GJB2	c.642A>T (p.Leu214=)
13	g.20188940T>C	CA6904221	GJB2	c.642A>G (p.Leu214=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188940T>G	CA483154244	GJB2	c.642A>C (p.Leu214=)
13	g.20188940T=	CA2077138668	GJB2	c.642A= (p.Leu214=)
13	g.20188941A>C	CA387460735	GJB2	c.641T>G (p.Leu214Arg)	ClinVar
13	g.20188941A>G	CA387460736	GJB2	c.641T>C (p.Leu214Pro)
13	g.20188941A>T	CA387460737	GJB2	c.641T>A (p.Leu214Gln)
13	g.20188942G>A	CA483154245	GJB2	c.640C>T (p.Leu214=)	gnomAD v4
13	g.20188942G>C	CA387460738	GJB2	c.640C>G (p.Leu214Val)	dbSNP gnomAD v2
13	g.20188942G=	CA2077138672	GJB2	c.640C= (p.Leu214=)
13	g.20188942G>T	CA387460739	GJB2	c.640C>A (p.Leu214Ile)
13	g.20188943C>A	CA387460740	GJB2	c.639G>T (p.Leu213Phe)
13	g.20188943C>G	CA387460741	GJB2	c.639G>C (p.Leu213Phe)
13	g.20188943C>T	CA483154247	GJB2	c.639G>A (p.Leu213=)
13	g.20188944A>C	CA387460742	GJB2	c.638T>G (p.Leu213Trp)
13	g.20188944A>G	CA387460743	GJB2	c.638T>C (p.Leu213Ser)
13	g.20188944A>T	CA387460744	GJB2	c.638T>A (p.Leu213Ter)
13	g.20188945A=	CA2077138675	GJB2	c.637T= (p.Leu213=)
13	g.20188945A>C	CA387460745	GJB2	c.637T>G (p.Leu213Val)
13	g.20188945A>G	CA483154249	GJB2	c.637T>C (p.Leu213=)
13	g.20188945A>T	CA387460746	GJB2	c.637T>A (p.Leu213Met)	dbSNP gnomAD v4
13	g.20188946A>C	CA387460747	GJB2	c.636T>G (p.Tyr212Ter)
13	g.20188946A>G	CA483154250	GJB2	c.636T>C (p.Tyr212=)
13	g.20188946A>T	CA387460748	GJB2	c.636T>A (p.Tyr212Ter)
13	g.20188947T>A	CA387460749	GJB2	c.635A>T (p.Tyr212Phe)
13	g.20188947T>C	CA387460750	GJB2	c.635A>G (p.Tyr212Cys)	COSMIC
13	g.20188947T>G	CA387460751	GJB2	c.635A>C (p.Tyr212Ser)
13	g.20188947_20188952delinsTAACAC	CA2077138679	GJB2	c.630_635delinsGTGTTA (p.Leu210=)
13	g.20188948A>C	CA387460752	GJB2	c.634T>G (p.Tyr212Asp)
13	g.20188948A>G	CA387460754	GJB2	c.634T>C (p.Tyr212His)
13	g.20188948A>T	CA387460753	GJB2	c.634T>A (p.Tyr212Asn)
13	g.20188948_20188950delinsAAC	CA2077138684	GJB2	c.632_634delinsGTT (p.Cys211=)
13	g.20188950_20188954del	CA608984139	GJB2	c.630_634del (p.Cys211PhefsTer4)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188949A>C	CA387460755	GJB2	c.633T>G (p.Cys211Trp)
13	g.20188949A>G	CA483154252	GJB2	c.633T>C (p.Cys211=)
13	g.20188949A>T	CA387460756	GJB2	c.633T>A (p.Cys211Ter)	gnomAD v4
13	g.20188952_20188953del	CA172238	GJB2	c.632_633del (p.Cys211LeufsTer5)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188950C>A	CA387460757	GJB2	c.632G>T (p.Cys211Phe)
13	g.20188950C=	CA2077138690	GJB2	c.632G= (p.Cys211=)
13	g.20188950C>G	CA387460758	GJB2	c.632G>C (p.Cys211Ser)
13	g.20188950C>T	CA387460759	GJB2	c.632G>A (p.Cys211Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20188951A>C	CA387460760	GJB2	c.631T>G (p.Cys211Gly)
13	g.20188951A>G	CA387460761	GJB2	c.631T>C (p.Cys211Arg)
13	g.20188951A>T	CA387460762	GJB2	c.631T>A (p.Cys211Ser)
13	g.20188952C>A	CA387460763	GJB2	c.630G>T (p.Leu210Phe)
13	g.20188952C>G	CA387460764	GJB2	c.630G>C (p.Leu210Phe)
13	g.20188952C>T	CA483154256	GJB2	c.630G>A (p.Leu210=)	dbSNP
13	g.20188953A>C	CA387460767	GJB2	c.629T>G (p.Leu210Trp)
13	g.20188953A>G	CA387460765	GJB2	c.629T>C (p.Leu210Ser)
13	g.20188953A>T	CA387460766	GJB2	c.629T>A (p.Leu210Ter)
13	g.20188954A=	CA2077138694	GJB2	c.628T= (p.Leu210=)
13	g.20188954A>C	CA387460768	GJB2	c.628T>G (p.Leu210Val)	dbSNP gnomAD v2 gnomAD v4
13	g.20188954A>G	CA246459699	GJB2	c.628T>C (p.Leu210=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20188954A>T	CA387460769	GJB2	c.628T>A (p.Leu210Met)
13	g.20188954_20188955del	CA2622252166	GJB2	c.627_628del (p.Glu209AspfsTer7)	gnomAD v4
13	g.20188955T>A	CA387460770	GJB2	c.627A>T (p.Glu209Asp)
13	g.20188955T>C	CA246459702	GJB2	c.627A>G (p.Glu209=)	dbSNP gnomAD v4
13	g.20188955T>G	CA387460771	GJB2	c.627A>C (p.Glu209Asp)	dbSNP gnomAD v2 gnomAD v4
13	g.20188955T=	CA2077138698	GJB2	c.627A= (p.Glu209=)
13	g.20188956T>A	CA387460772	GJB2	c.626A>T (p.Glu209Val)
13	g.20188956T>C	CA6904222	GJB2	c.626A>G (p.Glu209Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188956T>G	CA387460773	GJB2	c.626A>C (p.Glu209Ala)
13	g.20188956T=	CA2077138701	GJB2	c.626A= (p.Glu209=)
13	g.20188957C>A	CA387460774	GJB2	c.625G>T (p.Glu209Ter)
13	g.20188957C>G	CA387460775	GJB2	c.625G>C (p.Glu209Gln)
13	g.20188957C>T	CA387460776	GJB2	c.625G>A (p.Glu209Lys)	gnomAD v4
13	g.20188958del	CA2573149176	GJB2	c.624del (p.Glu209AsnfsTer6)	ClinVar dbSNP
13	g.20188958A>C	CA483154262	GJB2	c.624T>G (p.Thr208=)
13	g.20188958A>G	CA483154263	GJB2	c.624T>C (p.Thr208=)
13	g.20188958A>T	CA483154265	GJB2	c.624T>A (p.Thr208=)
13	g.20188959G>A	CA387460778	GJB2	c.623C>T (p.Thr208Ile)
13	g.20188959G>C	CA387460779	GJB2	c.623C>G (p.Thr208Ser)
13	g.20188959G>T	CA387460777	GJB2	c.623C>A (p.Thr208Asn)
13	g.20188960T>A	CA387460780	GJB2	c.622A>T (p.Thr208Ser)
13	g.20188960T>C	CA387460781	GJB2	c.622A>G (p.Thr208Ala)
13	g.20188960T>G	CA387460782	GJB2	c.622A>C (p.Thr208Pro)
13	g.20188961G>A	CA483154266	GJB2	c.621C>T (p.Val207=)	ClinVar dbSNP gnomAD v4
13	g.20188961G>C	CA483154267	GJB2	c.621C>G (p.Val207=)
13	g.20188961G=	CA2077138703	GJB2	c.621C= (p.Val207=)
13	g.20188961G>T	CA483154268	GJB2	c.621C>A (p.Val207=)	gnomAD v4
13	g.20188962A>C	CA387460783	GJB2	c.620T>G (p.Val207Gly)
13	g.20188962A>G	CA387460784	GJB2	c.620T>C (p.Val207Ala)
13	g.20188962A>T	CA387460785	GJB2	c.620T>A (p.Val207Asp)
13	g.20188963C>A	CA246459713	GJB2	c.619G>T (p.Val207Phe)	dbSNP
13	g.20188963C=	CA2077138706	GJB2	c.619G= (p.Val207=)
13	g.20188963C>G	CA387460786	GJB2	c.619G>C (p.Val207Leu)	dbSNP gnomAD v2 gnomAD v4
13	g.20188963C>T	CA387460787	GJB2	c.619G>A (p.Val207Ile)
13	g.20188964A>C	CA387460788	GJB2	c.618T>G (p.Asn206Lys)
13	g.20188964A>G	CA483154270	GJB2	c.618T>C (p.Asn206=)	gnomAD v4
13	g.20188964A>T	CA387460789	GJB2	c.618T>A (p.Asn206Lys)
13	g.20188965T>A	CA387460790	GJB2	c.617A>T (p.Asn206Ile)
13	g.20188965T>C	CA172236	GJB2	c.617A>G (p.Asn206Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188965T>G	CA387460791	GJB2	c.617A>C (p.Asn206Thr)
13	g.20188965T=	CA2077138711	GJB2	c.617A= (p.Asn206=)
13	g.20188966T>A	CA387460792	GJB2	c.616A>T (p.Asn206Tyr)
13	g.20188966T>C	CA387460794	GJB2	c.616A>G (p.Asn206Asp)
13	g.20188966T>G	CA387460793	GJB2	c.616A>C (p.Asn206His)
13	g.20188967C>A	CA483154275	GJB2	c.615G>T (p.Leu205=)
13	g.20188967C>G	CA483154273	GJB2	c.615G>C (p.Leu205=)
13	g.20188967C>T	CA483154272	GJB2	c.615G>A (p.Leu205=)
13	g.20188968A>C	CA387460795	GJB2	c.614T>G (p.Leu205Arg)
13	g.20188968A>G	CA387460796	GJB2	c.614T>C (p.Leu205Pro)
13	g.20188968A>T	CA387460797	GJB2	c.614T>A (p.Leu205Gln)
13	g.20188969G>A	CA483154276	GJB2	c.613C>T (p.Leu205=)
13	g.20188969G>C	CA387460798	GJB2	c.613C>G (p.Leu205Val)
13	g.20188969G>T	CA387460799	GJB2	c.613C>A (p.Leu205Met)
13	g.20188970C>A	CA6904223	GJB2	c.612G>T (p.Leu204=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188970C=	CA2077138715	GJB2	c.612G= (p.Leu204=)
13	g.20188970C>G	CA483154278	GJB2	c.612G>C (p.Leu204=)
13	g.20188970C>T	CA483154280	GJB2	c.612G>A (p.Leu204=)
13	g.20188971A>C	CA387460800	GJB2	c.611T>G (p.Leu204Arg)
13	g.20188971A>G	CA387460801	GJB2	c.611T>C (p.Leu204Pro)
13	g.20188971A>T	CA387460802	GJB2	c.611T>A (p.Leu204Gln)
13	g.20188972G>A	CA483154281	GJB2	c.610C>T (p.Leu204=)
13	g.20188972G>C	CA387460803	GJB2	c.610C>G (p.Leu204Val)
13	g.20188972G>T	CA387460804	GJB2	c.610C>A (p.Leu204Met)
13	g.20188973G>A	CA483154282	GJB2	c.609C>T (p.Ile203=)	ClinVar dbSNP
13	g.20188973G>C	CA387460805	GJB2	c.609C>G (p.Ile203Met)	dbSNP gnomAD v4
13	g.20188973G=	CA2077138716	GJB2	c.609C= (p.Ile203=)
13	g.20188973G>T	CA483154283	GJB2	c.609C>A (p.Ile203=)	gnomAD v4
13	g.20188973_20188974delinsTT	CA1139532487	GJB2	c.608_609delinsAA (p.Ile203Lys)

Number of alleles fetched