Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
13	g.20188974A=	CA2077138719	GJB2	c.608T= (p.Ile203=)
13	g.20188974A>C	CA387460806	GJB2	c.608T>G (p.Ile203Ser)
13	g.20188974A>G	CA134991	GJB2	c.608T>C (p.Ile203Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188974A>T	CA387460807	GJB2	c.608T>A (p.Ile203Asn)	gnomAD v4
13	g.20188975T>A	CA387460808	GJB2	c.607A>T (p.Ile203Phe)
13	g.20188975T>C	CA387460809	GJB2	c.607A>G (p.Ile203Val)
13	g.20188975T>G	CA387460810	GJB2	c.607A>C (p.Ile203Leu)	ClinVar gnomAD v4
13	g.20188976G>A	CA483154284	GJB2	c.606C>T (p.Cys202=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188976G>C	CA387460811	GJB2	c.606C>G (p.Cys202Trp)
13	g.20188976G=	CA2077138722	GJB2	c.606C= (p.Cys202=)
13	g.20188976G>T	CA387460812	GJB2	c.606C>A (p.Cys202Ter)
13	g.20188977C>A	CA257678	GJB2	c.605G>T (p.Cys202Phe)	ClinVar dbSNP
13	g.20188977C=	CA2077138729	GJB2	c.605G= (p.Cys202=)
13	g.20188977C>G	CA387460813	GJB2	c.605G>C (p.Cys202Ser)
13	g.20188977C>T	CA387460814	GJB2	c.605G>A (p.Cys202Tyr)
13	g.20188978_20189023dup	CA913191089	GJB2	c.560_605dup (p.Cys202Ter)	ClinVar dbSNP gnomAD v4
13	g.20188978A=	CA2077138734	GJB2	c.604T= (p.Cys202=)
13	g.20188978A>C	CA387460815	GJB2	c.604T>G (p.Cys202Gly)
13	g.20188978A>G	CA387460816	GJB2	c.604T>C (p.Cys202Arg)	ClinVar dbSNP gnomAD v4
13	g.20188978A>T	CA387460817	GJB2	c.604T>A (p.Cys202Ser)
13	g.20188979A=	CA2077138737	GJB2	c.603T= (p.Ile201=)
13	g.20188979A>C	CA6904224	GJB2	c.603T>G (p.Ile201Met)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188979A>G	CA483154285	GJB2	c.603T>C (p.Ile201=)
13	g.20188979A>T	CA483154286	GJB2	c.603T>A (p.Ile201=)
13	g.20188980A>C	CA387460820	GJB2	c.602T>G (p.Ile201Ser)
13	g.20188980A>G	CA387460819	GJB2	c.602T>C (p.Ile201Thr)
13	g.20188980A>T	CA387460818	GJB2	c.602T>A (p.Ile201Asn)
13	g.20188981T>A	CA387460821	GJB2	c.601A>T (p.Ile201Phe)
13	g.20188981T>C	CA387460822	GJB2	c.601A>G (p.Ile201Val)
13	g.20188981T>G	CA387460823	GJB2	c.601A>C (p.Ile201Leu)
13	g.20188981T=	CA2077138741	GJB2	c.601A= (p.Ile201=)
13	g.20188981_20188990delinsTTCCAGACAC	CA2077138739	GJB2	c.592_601delinsGTGTCTGGAA (p.Val198=)
13	g.20188981_20188982insGAATG	CA608984140	GJB2	c.600_601insCATTC (p.Ile201HisfsTer7)	dbSNP gnomAD v2 gnomAD v4
13	g.20188982T>A	CA483154288	GJB2	c.600A>T (p.Gly200=)
13	g.20188982T>C	CA483154289	GJB2	c.600A>G (p.Gly200=)
13	g.20188982T>G	CA483154287	GJB2	c.600A>C (p.Gly200=)	ClinVar dbSNP
13	g.20188982_20188990delinsGAATGTCATGAACACTG	CA261653	GJB2	c.592_600delinsCAGTGTTCATGACATTC (p.Val198GlnfsTer4)	ClinVar dbSNP
13	g.20188983C>A	CA387460824	GJB2	c.599G>T (p.Gly200Val)
13	g.20188983C>G	CA387460825	GJB2	c.599G>C (p.Gly200Ala)
13	g.20188983C>T	CA387460826	GJB2	c.599G>A (p.Gly200Glu)
13	g.20188984C>A	CA274205	GJB2	c.598G>T (p.Gly200Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188984C=	CA2077138753	GJB2	c.598G= (p.Gly200=)
13	g.20188984C>G	CA387460827	GJB2	c.598G>C (p.Gly200Arg)
13	g.20188984C>T	CA357244	GJB2	c.598G>A (p.Gly200Arg)	ClinVar dbSNP
13	g.20188985A=	CA2077138757	GJB2	c.597T= (p.Ser199=)
13	g.20188985A>C	CA483154290	GJB2	c.597T>G (p.Ser199=)
13	g.20188985A>G	CA483154291	GJB2	c.597T>C (p.Ser199=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20188985A>T	CA246459739	GJB2	c.597T>A (p.Ser199=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188986G>A	CA274470	GJB2	c.596C>T (p.Ser199Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188986G>C	CA387460828	GJB2	c.596C>G (p.Ser199Cys)	gnomAD v4
13	g.20188986G=	CA2077138762	GJB2	c.596C= (p.Ser199=)
13	g.20188986G>T	CA387460829	GJB2	c.596C>A (p.Ser199Tyr)
13	g.20188987A>C	CA387460831	GJB2	c.595T>G (p.Ser199Ala)	ClinVar
13	g.20188987A>G	CA387460832	GJB2	c.595T>C (p.Ser199Pro)	ClinVar gnomAD v4
13	g.20188987A>T	CA387460830	GJB2	c.595T>A (p.Ser199Thr)
13	g.20188987dup	CA608984141	GJB2	c.595dup (p.Ser199PhefsTer11)	dbSNP gnomAD v2 gnomAD v4
13	g.20188988C>A	CA483154292	GJB2	c.594G>T (p.Val198=)
13	g.20188988C=	CA2077138770	GJB2	c.594G= (p.Val198=)
13	g.20188988C>G	CA483154293	GJB2	c.594G>C (p.Val198=)
13	g.20188988C>T	CA6904225	GJB2	c.594G>A (p.Val198=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188990_20188994dup	CA2695217653	GJB2	c.590_594dup (p.Ser199GlnfsTer9)
13	g.20188989A=	CA2077138775	GJB2	c.593T= (p.Val198=)
13	g.20188989A>C	CA6904226	GJB2	c.593T>G (p.Val198Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188989A>G	CA387460834	GJB2	c.593T>C (p.Val198Ala)	dbSNP gnomAD v3 gnomAD v4
13	g.20188989A>T	CA387460833	GJB2	c.593T>A (p.Val198Glu)	gnomAD v4
13	g.20188990C>A	CA387460835	GJB2	c.592G>T (p.Val198Leu)
13	g.20188990C=	CA2077138777	GJB2	c.592G= (p.Val198=)
13	g.20188990C>G	CA387460836	GJB2	c.592G>C (p.Val198Leu)
13	g.20188990C>T	CA387460837	GJB2	c.592G>A (p.Val198Met)	ClinVar dbSNP
13	g.20188991T>A	CA483154294	GJB2	c.591A>T (p.Ala197=)
13	g.20188991T>C	CA6904227	GJB2	c.591A>G (p.Ala197=)	dbSNP ExAC gnomAD v2
13	g.20188991T>G	CA483154295	GJB2	c.591A>C (p.Ala197=)
13	g.20188991T=	CA2077138783	GJB2	c.591A= (p.Ala197=)
13	g.20188991_20188992dup	CA608984142	GJB2	c.590_591dup (p.Val198GlnfsTer9)	dbSNP gnomAD v2 gnomAD v4
13	g.20188992G>A	CA387460838	GJB2	c.590C>T (p.Ala197Val)	dbSNP gnomAD v4
13	g.20188992G>C	CA387460839	GJB2	c.590C>G (p.Ala197Gly)
13	g.20188992G=	CA2077138786	GJB2	c.590C= (p.Ala197=)
13	g.20188992G>T	CA387460840	GJB2	c.590C>A (p.Ala197Glu)
13	g.20188993C>A	CA387460841	GJB2	c.589G>T (p.Ala197Ser)	dbSNP gnomAD v2 gnomAD v4 COSMIC
13	g.20188993C=	CA2077138789	GJB2	c.589G= (p.Ala197=)
13	g.20188993C>G	CA387460842	GJB2	c.589G>C (p.Ala197Pro)
13	g.20188993C>T	CA6904228	GJB2	c.589G>A (p.Ala197Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188994A=	CA2077138791	GJB2	c.588T= (p.Ile196=)
13	g.20188994A>C	CA6904229	GJB2	c.588T>G (p.Ile196Met)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188994A>G	CA483154296	GJB2	c.588T>C (p.Ile196=)	ClinVar
13	g.20188994A>T	CA483154297	GJB2	c.588T>A (p.Ile196=)
13	g.20188995A=	CA2077138796	GJB2	c.587T= (p.Ile196=)
13	g.20188995A>C	CA6904230	GJB2	c.587T>G (p.Ile196Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188995A>G	CA246459805	GJB2	c.587T>C (p.Ile196Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188995A>T	CA387460843	GJB2	c.587T>A (p.Ile196Asn)
13	g.20188996T>A	CA387460844	GJB2	c.586A>T (p.Ile196Phe)
13	g.20188996T>C	CA387460845	GJB2	c.586A>G (p.Ile196Val)	gnomAD v4
13	g.20188996T>G	CA387460846	GJB2	c.586A>C (p.Ile196Leu)
13	g.20188997del	CA2622252257	GJB2	c.585del (p.Met195IlefsTer11)	gnomAD v4
13	g.20188997C>A	CA6904232	GJB2	c.585G>T (p.Met195Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188997C=	CA2077138801	GJB2	c.585G= (p.Met195=)
13	g.20188997C>G	CA6904231	GJB2	c.585G>C (p.Met195Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188997C>T	CA387460847	GJB2	c.585G>A (p.Met195Ile)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20188998A=	CA2077138806	GJB2	c.584T= (p.Met195=)
13	g.20188998A>C	CA387460848	GJB2	c.584T>G (p.Met195Arg)
13	g.20188998A>G	CA387460849	GJB2	c.584T>C (p.Met195Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188998A>T	CA387460850	GJB2	c.584T>A (p.Met195Lys)
13	g.20188999T>A	CA246459818	GJB2	c.583A>T (p.Met195Leu)	ClinVar dbSNP gnomAD v4
13	g.20188999T>C	CA6904233	GJB2	c.583A>G (p.Met195Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188999T>G	CA387460851	GJB2	c.583A>C (p.Met195Leu)
13	g.20188999T=	CA2077138810	GJB2	c.583A= (p.Met195=)
13	g.20189000G>A	CA241525	GJB2	c.582C>T (p.Phe194=)	ClinVar dbSNP
13	g.20189000G>C	CA387460853	GJB2	c.582C>G (p.Phe194Leu)
13	g.20189000G=	CA2077138816	GJB2	c.582C= (p.Phe194=)
13	g.20189000G>T	CA387460852	GJB2	c.582C>A (p.Phe194Leu)
13	g.20189001A>C	CA387460854	GJB2	c.581T>G (p.Phe194Cys)
13	g.20189001A>G	CA387460855	GJB2	c.581T>C (p.Phe194Ser)
13	g.20189001A>T	CA387460856	GJB2	c.581T>A (p.Phe194Tyr)
13	g.20189002A>C	CA387460857	GJB2	c.580T>G (p.Phe194Val)
13	g.20189002A>G	CA387460858	GJB2	c.580T>C (p.Phe194Leu)
13	g.20189002A>T	CA387460859	GJB2	c.580T>A (p.Phe194Ile)
13	g.20189003C>A	CA483153814	GJB2	c.579G>T (p.Val193=)
13	g.20189003C>G	CA483153813	GJB2	c.579G>C (p.Val193=)
13	g.20189003C>T	CA483153812	GJB2	c.579G>A (p.Val193=)
13	g.20189004A>C	CA387460862	GJB2	c.578T>G (p.Val193Gly)
13	g.20189004A>G	CA387460860	GJB2	c.578T>C (p.Val193Ala)
13	g.20189004A>T	CA387460861	GJB2	c.578T>A (p.Val193Glu)
13	g.20189005C>A	CA387460863	GJB2	c.577G>T (p.Val193Leu)
13	g.20189005C>G	CA387460864	GJB2	c.577G>C (p.Val193Leu)
13	g.20189005C>T	CA387460865	GJB2	c.577G>A (p.Val193Met)
13	g.20189005_20189006delinsCT	CA2077138819	GJB2	c.576_577delinsAG (p.Thr192=)
13	g.20189005_20189007delinsCTG	CA2077138820	GJB2	c.575_577delinsCAG (p.Thr192=)
13	g.20189006del	CA6904234	GJB2	c.576del (p.Val193CysfsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189006T>A	CA483153815	GJB2	c.576A>T (p.Thr192=)
13	g.20189006T>C	CA483153816	GJB2	c.576A>G (p.Thr192=)	gnomAD v4
13	g.20189006T>G	CA483153817	GJB2	c.576A>C (p.Thr192=)	ClinVar
13	g.20189008_20189009del	CA16041592	GJB2	c.575_576del (p.Thr192SerfsTer17)	ClinVar dbSNP gnomAD v4
13	g.20189007G>A	CA387460866	GJB2	c.575C>T (p.Thr192Ile)
13	g.20189007G>C	CA387460868	GJB2	c.575C>G (p.Thr192Arg)
13	g.20189007G>T	CA387460867	GJB2	c.575C>A (p.Thr192Lys)
13	g.20189008T>A	CA387460869	GJB2	c.574A>T (p.Thr192Ser)	dbSNP
13	g.20189008T>C	CA387460870	GJB2	c.574A>G (p.Thr192Ala)
13	g.20189008T>G	CA387460871	GJB2	c.574A>C (p.Thr192Pro)
13	g.20189009G>A	CA483153818	GJB2	c.573C>T (p.Phe191=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
13	g.20189009G>C	CA387460872	GJB2	c.573C>G (p.Phe191Leu)
13	g.20189009G=	CA2077138830	GJB2	c.573C= (p.Phe191=)
13	g.20189009G>T	CA387460873	GJB2	c.573C>A (p.Phe191Leu)
13	g.20189010A>C	CA387460874	GJB2	c.572T>G (p.Phe191Cys)
13	g.20189010A>G	CA387460875	GJB2	c.572T>C (p.Phe191Ser)
13	g.20189010A>T	CA387460876	GJB2	c.572T>A (p.Phe191Tyr)
13	g.20189011del	CA2695217654	GJB2	c.572del (p.Phe191SerfsTer5)
13	g.20189011A=	CA2077138836	GJB2	c.571T= (p.Phe191=)
13	g.20189011A>C	CA387460877	GJB2	c.571T>G (p.Phe191Val)
13	g.20189011A>G	CA134989	GJB2	c.571T>C (p.Phe191Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189011A>T	CA387460878	GJB2	c.571T>A (p.Phe191Ile)
13	g.20189013_20189016del	CA2622252268	GJB2	c.568_571del (p.Val190SerfsTer5)	ClinVar gnomAD v4
13	g.20189012G>A	CA483153821	GJB2	c.570C>T (p.Val190=)	ClinVar dbSNP gnomAD v4
13	g.20189012G>C	CA483153822	GJB2	c.570C>G (p.Val190=)
13	g.20189012G=	CA2077138838	GJB2	c.570C= (p.Val190=)
13	g.20189012G>T	CA483153823	GJB2	c.570C>A (p.Val190=)
13	g.20189013A=	CA2077138843	GJB2	c.569T= (p.Val190=)
13	g.20189013A>C	CA387460881	GJB2	c.569T>G (p.Val190Gly)
13	g.20189013A>G	CA387460880	GJB2	c.569T>C (p.Val190Ala)
13	g.20189013A>T	CA387460879	GJB2	c.569T>A (p.Val190Asp)	ClinVar dbSNP gnomAD v4
13	g.20189014C>A	CA387460882	GJB2	c.568G>T (p.Val190Phe)
13	g.20189014C>G	CA387460883	GJB2	c.568G>C (p.Val190Leu)
13	g.20189014C>T	CA387460884	GJB2	c.568G>A (p.Val190Ile)
13	g.20189015A=	CA2077138852	GJB2	c.567T= (p.Thr189=)
13	g.20189015A>C	CA246459834	GJB2	c.567T>G (p.Thr189=)	dbSNP gnomAD v2 gnomAD v4
13	g.20189015A>G	CA483153824	GJB2	c.567T>C (p.Thr189=)	ClinVar
13	g.20189015A>T	CA483153825	GJB2	c.567T>A (p.Thr189=)	dbSNP
13	g.20189016G>A	CA387460885	GJB2	c.566C>T (p.Thr189Ile)
13	g.20189016G>C	CA387460886	GJB2	c.566C>G (p.Thr189Ser)	dbSNP gnomAD v4
13	g.20189016G=	CA2077138856	GJB2	c.566C= (p.Thr189=)
13	g.20189016G>T	CA134987	GJB2	c.566C>A (p.Thr189Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189016_20189018delinsGTC	CA2077138861	GJB2	c.564_566delinsGAC (p.Lys188=)
13	g.20189017T>A	CA387460889	GJB2	c.565A>T (p.Thr189Ser)
13	g.20189017T>C	CA387460888	GJB2	c.565A>G (p.Thr189Ala)	gnomAD v4
13	g.20189017T>G	CA387460887	GJB2	c.565A>C (p.Thr189Pro)
13	g.20189018_20189019del	CA6904235	GJB2	c.564_565del (p.Lys188AsnfsTer21)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189018C>A	CA387460890	GJB2	c.564G>T (p.Lys188Asn)
13	g.20189018C>G	CA387460891	GJB2	c.564G>C (p.Lys188Asn)
13	g.20189018C>T	CA483153827	GJB2	c.564G>A (p.Lys188=)
13	g.20189019T>A	CA387460892	GJB2	c.563A>T (p.Lys188Met)
13	g.20189019T>C	CA387460893	GJB2	c.563A>G (p.Lys188Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189019T>G	CA387460894	GJB2	c.563A>C (p.Lys188Thr)
13	g.20189019T=	CA2077138869	GJB2	c.563A= (p.Lys188=)
13	g.20189020T>A	CA387460897	GJB2	c.562A>T (p.Lys188Ter)	gnomAD v4
13	g.20189020T>C	CA387460895	GJB2	c.562A>G (p.Lys188Glu)
13	g.20189020T>G	CA387460896	GJB2	c.562A>C (p.Lys188Gln)
13	g.20189021C>A	CA387460898	GJB2	c.561G>T (p.Glu187Asp)
13	g.20189021C=	CA2077138879	GJB2	c.561G= (p.Glu187=)
13	g.20189021C>G	CA387460899	GJB2	c.561G>C (p.Glu187Asp)
13	g.20189021C>T	CA6904236	GJB2	c.561G>A (p.Glu187=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189022_20189024del	CA2695217655	GJB2	c.559_561del (p.Glu187del)
13	g.20189022T>A	CA387460900	GJB2	c.560A>T (p.Glu187Val)
13	g.20189022T>C	CA387460901	GJB2	c.560A>G (p.Glu187Gly)	ClinVar dbSNP
13	g.20189022T>G	CA387460902	GJB2	c.560A>C (p.Glu187Ala)
13	g.20189022T=	CA2077138884	GJB2	c.560A= (p.Glu187=)
13	g.20189023C>A	CA387460903	GJB2	c.559G>T (p.Glu187Ter)
13	g.20189023C>G	CA387460904	GJB2	c.559G>C (p.Glu187Gln)
13	g.20189023C>T	CA387460905	GJB2	c.559G>A (p.Glu187Lys)	COSMIC
13	g.20189024C>A	CA483153831	GJB2	c.558G>T (p.Thr186=)
13	g.20189024C=	CA2077138889	GJB2	c.558G= (p.Thr186=)
13	g.20189024C>G	CA483153832	GJB2	c.558G>C (p.Thr186=)
13	g.20189024C>T	CA6904237	GJB2	c.558G>A (p.Thr186=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189025G>A	CA6904238	GJB2	c.557C>T (p.Thr186Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189025G>C	CA387460906	GJB2	c.557C>G (p.Thr186Arg)
13	g.20189025G=	CA2077138893	GJB2	c.557C= (p.Thr186=)
13	g.20189025G>T	CA387460907	GJB2	c.557C>A (p.Thr186Lys)	ClinVar
13	g.20189026T>A	CA387460908	GJB2	c.556A>T (p.Thr186Ser)
13	g.20189026T>C	CA246459866	GJB2	c.556A>G (p.Thr186Ala)	dbSNP gnomAD v4
13	g.20189026T>G	CA387460909	GJB2	c.556A>C (p.Thr186Pro)
13	g.20189026T=	CA2077138895	GJB2	c.556A= (p.Thr186=)
13	g.20189027G>A	CA6904239	GJB2	c.555C>T (p.Pro185=)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189027G>C	CA483153834	GJB2	c.555C>G (p.Pro185=)
13	g.20189027G=	CA2077138898	GJB2	c.555C= (p.Pro185=)
13	g.20189027G>T	CA483153837	GJB2	c.555C>A (p.Pro185=)
13	g.20189028G>A	CA387460910	GJB2	c.554C>T (p.Pro185Leu)
13	g.20189028G>C	CA387460911	GJB2	c.554C>G (p.Pro185Arg)
13	g.20189028G>T	CA387460912	GJB2	c.554C>A (p.Pro185His)
13	g.20189029G>A	CA387460913	GJB2	c.553C>T (p.Pro185Ser)
13	g.20189029G>C	CA387460914	GJB2	c.553C>G (p.Pro185Ala)
13	g.20189029G>T	CA387460915	GJB2	c.553C>A (p.Pro185Thr)
13	g.20189030C>A	CA483153840	GJB2	c.552G>T (p.Arg184=)
13	g.20189030C>G	CA483153841	GJB2	c.552G>C (p.Arg184=)
13	g.20189030C>T	CA483153842	GJB2	c.552G>A (p.Arg184=)	ClinVar dbSNP gnomAD v4
13	g.20189031C>A	CA387460916	GJB2	c.551G>T (p.Arg184Leu)
13	g.20189031C=	CA2077138903	GJB2	c.551G= (p.Arg184=)
13	g.20189031C>G	CA341438	GJB2	c.551G>C (p.Arg184Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189031C>T	CA172235	GJB2	c.551G>A (p.Arg184Gln)	ClinVar dbSNP
13	g.20189032G>A	CA246459909	GJB2	c.550C>T (p.Arg184Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189032G>C	CA387460917	GJB2	c.550C>G (p.Arg184Gly)
13	g.20189032G=	CA2077138906	GJB2	c.550C= (p.Arg184=)
13	g.20189032G>T	CA483153843	GJB2	c.550C>A (p.Arg184=)
13	g.20189033G>A	CA483153845	GJB2	c.549C>T (p.Ser183=)
13	g.20189033G>C	CA483153846	GJB2	c.549C>G (p.Ser183=)
13	g.20189033G>T	CA483153844	GJB2	c.549C>A (p.Ser183=)
13	g.20189034G>A	CA387460920	GJB2	c.548C>T (p.Ser183Phe)	ClinVar
13	g.20189034G>C	CA387460919	GJB2	c.548C>G (p.Ser183Cys)
13	g.20189034G>T	CA387460918	GJB2	c.548C>A (p.Ser183Tyr)
13	g.20189035A>C	CA387460921	GJB2	c.547T>G (p.Ser183Ala)
13	g.20189035A>G	CA387460922	GJB2	c.547T>C (p.Ser183Pro)
13	g.20189035A>T	CA387460923	GJB2	c.547T>A (p.Ser183Thr)
13	g.20189036C>A	CA483153850	GJB2	c.546G>T (p.Val182=)	ClinVar
13	g.20189036C=	CA2077138912	GJB2	c.546G= (p.Val182=)
13	g.20189036C>G	CA483153851	GJB2	c.546G>C (p.Val182=)
13	g.20189036C>T	CA6904240	GJB2	c.546G>A (p.Val182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189037A>C	CA387460924	GJB2	c.545T>G (p.Val182Gly)
13	g.20189037A>G	CA387460925	GJB2	c.545T>C (p.Val182Ala)
13	g.20189037A>T	CA387460926	GJB2	c.545T>A (p.Val182Glu)
13	g.20189038C>A	CA387460927	GJB2	c.544G>T (p.Val182Leu)
13	g.20189038C>G	CA387460928	GJB2	c.544G>C (p.Val182Leu)
13	g.20189038C>T	CA387460929	GJB2	c.544G>A (p.Val182Met)
13	g.20189039A=	CA2077138917	GJB2	c.543T= (p.Phe181=)
13	g.20189039A>C	CA387460930	GJB2	c.543T>G (p.Phe181Leu)	dbSNP gnomAD v3 gnomAD v4
13	g.20189039A>G	CA483153856	GJB2	c.543T>C (p.Phe181=)
13	g.20189039A>T	CA387460931	GJB2	c.543T>A (p.Phe181Leu)
13	g.20189040A>C	CA387460932	GJB2	c.542T>G (p.Phe181Cys)
13	g.20189040A>G	CA387460934	GJB2	c.542T>C (p.Phe181Ser)
13	g.20189040A>T	CA387460933	GJB2	c.542T>A (p.Phe181Tyr)
13	g.20189041A=	CA2077138919	GJB2	c.541T= (p.Phe181=)
13	g.20189041A>C	CA387460935	GJB2	c.541T>G (p.Phe181Val)
13	g.20189041A>G	CA387460937	GJB2	c.541T>C (p.Phe181Leu)
13	g.20189041A>T	CA387460936	GJB2	c.541T>A (p.Phe181Ile)	dbSNP
13	g.20189042G>A	CA483153857	GJB2	c.540C>T (p.Cys180=)	gnomAD v4
13	g.20189042G>C	CA387460938	GJB2	c.540C>G (p.Cys180Trp)
13	g.20189042G>T	CA387460939	GJB2	c.540C>A (p.Cys180Ter)
13	g.20189043C>A	CA387460940	GJB2	c.539G>T (p.Cys180Phe)	dbSNP gnomAD v2 gnomAD v4
13	g.20189043C=	CA2077138922	GJB2	c.539G= (p.Cys180=)
13	g.20189043C>G	CA387460942	GJB2	c.539G>C (p.Cys180Ser)
13	g.20189043C>T	CA387460941	GJB2	c.539G>A (p.Cys180Tyr)	dbSNP gnomAD v2 gnomAD v4
13	g.20189044A>C	CA387460943	GJB2	c.538T>G (p.Cys180Gly)
13	g.20189044A>G	CA387460945	GJB2	c.538T>C (p.Cys180Arg)
13	g.20189044A>T	CA387460944	GJB2	c.538T>A (p.Cys180Ser)
13	g.20189045G>A	CA6904241	GJB2	c.537C>T (p.Asp179=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189045G>C	CA387460946	GJB2	c.537C>G (p.Asp179Glu)
13	g.20189045G=	CA2077138927	GJB2	c.537C= (p.Asp179=)
13	g.20189045G>T	CA387460947	GJB2	c.537C>A (p.Asp179Glu)

Number of alleles fetched