Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189156G>A	CA483153967	GJB2	c.426C>T (p.Phe142=)	gnomAD v4
13	g.20189156G>C	CA387461170	GJB2	c.426C>G (p.Phe142Leu)
13	g.20189156G=	CA2077139248	GJB2	c.426C= (p.Phe142=)
13	g.20189156G>T	CA261647	GJB2	c.426C>A (p.Phe142Leu)	ClinVar dbSNP
13	g.20189161_20189163del	CA2580614612	GJB2	c.424_426del (p.Phe142del)	ClinVar
13	g.20189157A=	CA2077139253	GJB2	c.425T= (p.Phe142=)
13	g.20189157A>C	CA387461171	GJB2	c.425T>G (p.Phe142Cys)	gnomAD v4
13	g.20189157A>G	CA6904271	GJB2	c.425T>C (p.Phe142Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189157A>T	CA387461172	GJB2	c.425T>A (p.Phe142Tyr)
13	g.20189158A>C	CA387461174	GJB2	c.424T>G (p.Phe142Val)
13	g.20189158A>G	CA387461175	GJB2	c.424T>C (p.Phe142Leu)
13	g.20189158A>T	CA387461173	GJB2	c.424T>A (p.Phe142Ile)
13	g.20189159G>A	CA483153968	GJB2	c.423C>T (p.Phe141=)	ClinVar gnomAD v4
13	g.20189159G>C	CA387461176	GJB2	c.423C>G (p.Phe141Leu)	COSMIC
13	g.20189159G>T	CA387461177	GJB2	c.423C>A (p.Phe141Leu)
13	g.20189160A>C	CA387461178	GJB2	c.422T>G (p.Phe141Cys)
13	g.20189160A>G	CA387461179	GJB2	c.422T>C (p.Phe141Ser)
13	g.20189160A>T	CA387461180	GJB2	c.422T>A (p.Phe141Tyr)
13	g.20189161A>C	CA387461181	GJB2	c.421T>G (p.Phe141Val)
13	g.20189161A>G	CA387461182	GJB2	c.421T>C (p.Phe141Leu)
13	g.20189161A>T	CA387461183	GJB2	c.421T>A (p.Phe141Ile)
13	g.20189162G>A	CA483153969	GJB2	c.420C>T (p.Ile140=)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20189162G>C	CA387461184	GJB2	c.420C>G (p.Ile140Met)
13	g.20189162G=	CA2077139258	GJB2	c.420C= (p.Ile140=)
13	g.20189162G>T	CA483153970	GJB2	c.420C>A (p.Ile140=)	dbSNP gnomAD v2
13	g.20189163A>C	CA387461185	GJB2	c.419T>G (p.Ile140Ser)	ClinVar
13	g.20189163A>G	CA387461186	GJB2	c.419T>C (p.Ile140Thr)
13	g.20189163A>T	CA387461187	GJB2	c.419T>A (p.Ile140Asn)
13	g.20189164T>A	CA387461190	GJB2	c.418A>T (p.Ile140Phe)
13	g.20189164T>C	CA387461188	GJB2	c.418A>G (p.Ile140Val)
13	g.20189164T>G	CA387461189	GJB2	c.418A>C (p.Ile140Leu)
13	g.20189165G>A	CA483153971	GJB2	c.417C>T (p.Ser139=)
13	g.20189165G>C	CA387461191	GJB2	c.417C>G (p.Ser139Arg)
13	g.20189165G>T	CA387461192	GJB2	c.417C>A (p.Ser139Arg)
13	g.20189166C>A	CA387461193	GJB2	c.416G>T (p.Ser139Ile)
13	g.20189166C=	CA2077139263	GJB2	c.416G= (p.Ser139=)
13	g.20189166C>G	CA387461194	GJB2	c.416G>C (p.Ser139Thr)
13	g.20189166C>T	CA172232	GJB2	c.416G>A (p.Ser139Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189167T>A	CA387461195	GJB2	c.415A>T (p.Ser139Cys)	ClinVar dbSNP
13	g.20189167T>C	CA387461196	GJB2	c.415A>G (p.Ser139Gly)
13	g.20189167T>G	CA387461197	GJB2	c.415A>C (p.Ser139Arg)
13	g.20189167T=	CA2077139269	GJB2	c.415A= (p.Ser139=)
13	g.20189168G>A	CA483153972	GJB2	c.414C>T (p.Ser138=)
13	g.20189168G>C	CA387461198	GJB2	c.414C>G (p.Ser138Arg)
13	g.20189168G>T	CA387461199	GJB2	c.414C>A (p.Ser138Arg)
13	g.20189169C>A	CA387461202	GJB2	c.413G>T (p.Ser138Ile)
13	g.20189169C>G	CA387461201	GJB2	c.413G>C (p.Ser138Thr)
13	g.20189169C>T	CA387461200	GJB2	c.413G>A (p.Ser138Asn)	gnomAD v4
13	g.20189170T>A	CA387461203	GJB2	c.412A>T (p.Ser138Cys)
13	g.20189170T>C	CA134971	GJB2	c.412A>G (p.Ser138Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189170T>G	CA387461204	GJB2	c.412A>C (p.Ser138Arg)
13	g.20189170T=	CA2077139274	GJB2	c.412A= (p.Ser138=)
13	g.20189171T>A	CA483153975	GJB2	c.411A>T (p.Thr137=)
13	g.20189171T>C	CA483153973	GJB2	c.411A>G (p.Thr137=)
13	g.20189171T>G	CA483153974	GJB2	c.411A>C (p.Thr137=)
13	g.20189172del	CA2622252287	GJB2	c.410del (p.Thr137LysfsTer?)	gnomAD v4
13	g.20189172G>A	CA387461205	GJB2	c.410C>T (p.Thr137Ile)	dbSNP
13	g.20189172G>C	CA387461206	GJB2	c.410C>G (p.Thr137Arg)	ClinVar dbSNP
13	g.20189172G=	CA2077139277	GJB2	c.410C= (p.Thr137=)
13	g.20189172G>T	CA387461207	GJB2	c.410C>A (p.Thr137Lys)
13	g.20189173T>A	CA387461210	GJB2	c.409A>T (p.Thr137Ser)
13	g.20189173T>C	CA387461209	GJB2	c.409A>G (p.Thr137Ala)
13	g.20189173T>G	CA387461208	GJB2	c.409A>C (p.Thr137Pro)	ClinVar dbSNP
13	g.20189173dup	CA2695217668	GJB2	c.409dup (p.Thr137AsnfsTer?)
13	g.20189174G>A	CA483153976	GJB2	c.408C>T (p.Tyr136=)
13	g.20189174G>C	CA387461211	GJB2	c.408C>G (p.Tyr136Ter)
13	g.20189174G=	CA2077139285	GJB2	c.408C= (p.Tyr136=)
13	g.20189174G>T	CA274369	GJB2	c.408C>A (p.Tyr136Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.[20189174G>T;20189448C>T]	CA645372924	GJB2	c.[134G>A;408C>A] (p.[Gly45Glu;Tyr136Ter])	ClinVar
13	g.20189175T>A	CA387461212	GJB2	c.407A>T (p.Tyr136Phe)
13	g.20189175T>C	CA387461213	GJB2	c.407A>G (p.Tyr136Cys)
13	g.20189175T>G	CA387461214	GJB2	c.407A>C (p.Tyr136Ser)
13	g.20189175dup	CA6904272	GJB2	c.407dup (p.Tyr136Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189176A>C	CA387461215	GJB2	c.406T>G (p.Tyr136Asp)
13	g.20189176A>G	CA387461217	GJB2	c.406T>C (p.Tyr136His)
13	g.20189176A>T	CA387461216	GJB2	c.406T>A (p.Tyr136Asn)
13	g.20189176_20189177delinsAG	CA2077139293	GJB2	c.405_406delinsCT (p.Thr135=)
13	g.20189177G>A	CA483153977	GJB2	c.405C>T (p.Thr135=)	ClinVar
13	g.20189177G>C	CA483153978	GJB2	c.405C>G (p.Thr135=)
13	g.20189177G>T	CA483153979	GJB2	c.405C>A (p.Thr135=)
13	g.20189178del	CA953781636	GJB2	c.405del (p.Tyr136ThrfsTer?)	dbSNP gnomAD v3 gnomAD v4
13	g.20189177_20189178insTTGAACTCCTGGGCTCAAGTGATCCTCTC	CA2622252288	GJB2	c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA (p.Tyr136ArgfsTer?)	gnomAD v4
13	g.20189178G>A	CA387461218	GJB2	c.404C>T (p.Thr135Ile)
13	g.20189178G>C	CA387461219	GJB2	c.404C>G (p.Thr135Ser)
13	g.20189178G>T	CA387461220	GJB2	c.404C>A (p.Thr135Asn)
13	g.20189178_20189181delinsGTCC	CA2077139298	GJB2	c.401_404delinsGGAC (p.Trp134=)
13	g.20189179del	CA2622252289	GJB2	c.403del (p.Thr135ProfsTer?)	gnomAD v4
13	g.20189179T>A	CA387461221	GJB2	c.403A>T (p.Thr135Ser)
13	g.20189179T>C	CA387461222	GJB2	c.403A>G (p.Thr135Ala)
13	g.20189179T>G	CA387461223	GJB2	c.403A>C (p.Thr135Pro)
13	g.20189179_20189180delinsTC	CA2077139306	GJB2	c.402_403delinsGA (p.Trp134=)
13	g.20189179_20189181del	CA658656318	GJB2	c.401_403del (p.Trp134_Thr135delinsSer)	ClinVar dbSNP
13	g.20189180C>A	CA246460170	GJB2	c.402G>T (p.Trp134Cys)	dbSNP gnomAD v4
13	g.20189180C=	CA2077139313	GJB2	c.402G= (p.Trp134=)
13	g.20189180C>G	CA387461224	GJB2	c.402G>C (p.Trp134Cys)
13	g.20189180C>T	CA387461225	GJB2	c.402G>A (p.Trp134Ter)
13	g.20189181del	CA483153980	GJB2	c.402del (p.Trp134Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189180_20189181insT	CA2622252290	GJB2	c.401_402insA (p.Trp134Ter)	gnomAD v4
13	g.20189181C>A	CA387461226	GJB2	c.401G>T (p.Trp134Leu)
13	g.20189181C>G	CA387461227	GJB2	c.401G>C (p.Trp134Ser)
13	g.20189181C>T	CA387461228	GJB2	c.401G>A (p.Trp134Ter)
13	g.20189182A=	CA2077139317	GJB2	c.400T= (p.Trp134=)
13	g.20189182A>C	CA387461229	GJB2	c.400T>G (p.Trp134Gly)
13	g.20189182A>G	CA10581509	GJB2	c.400T>C (p.Trp134Arg)	ClinVar dbSNP gnomAD v4
13	g.20189182A>T	CA387461230	GJB2	c.400T>A (p.Trp134Arg)
13	g.20189182_20189183insGCCTC	CA2622252291	GJB2	c.399_400insGAGGC (p.Trp134GlufsTer?)	gnomAD v4
13	g.20189183C>A	CA387461231	GJB2	c.399G>T (p.Trp133Cys)
13	g.20189183C=	CA2077139322	GJB2	c.399G= (p.Trp133=)
13	g.20189183C>G	CA387461232	GJB2	c.399G>C (p.Trp133Cys)
13	g.20189183C>T	CA246460171	GJB2	c.399G>A (p.Trp133Ter)	ClinVar dbSNP gnomAD v4
13	g.20189185_20189194del	CA2695217669	GJB2	c.390_399del (p.Ser131GlyfsTer?)
13	g.20189184C>A	CA387461233	GJB2	c.398G>T (p.Trp133Leu)
13	g.20189184C>G	CA387461234	GJB2	c.398G>C (p.Trp133Ser)
13	g.20189184C>T	CA387461235	GJB2	c.398G>A (p.Trp133Ter)
13	g.20189185A>C	CA387461236	GJB2	c.397T>G (p.Trp133Gly)
13	g.20189185A>G	CA387461237	GJB2	c.397T>C (p.Trp133Arg)
13	g.20189185A>T	CA387461238	GJB2	c.397T>A (p.Trp133Arg)
13	g.20189186C>A	CA483153981	GJB2	c.396G>T (p.Leu132=)	gnomAD v4
13	g.20189186C=	CA2077139326	GJB2	c.396G= (p.Leu132=)
13	g.20189186C>G	CA483153982	GJB2	c.396G>C (p.Leu132=)
13	g.20189186C>T	CA6904273	GJB2	c.396G>A (p.Leu132=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189187A>C	CA387461239	GJB2	c.395T>G (p.Leu132Arg)
13	g.20189187A>G	CA387461240	GJB2	c.395T>C (p.Leu132Pro)
13	g.20189187A>T	CA387461241	GJB2	c.395T>A (p.Leu132Gln)
13	g.20189188G>A	CA483153983	GJB2	c.394C>T (p.Leu132=)
13	g.20189188G>C	CA387461242	GJB2	c.394C>G (p.Leu132Val)
13	g.20189188G>T	CA387461243	GJB2	c.394C>A (p.Leu132Met)
13	g.20189188_20189189insTGTT	CA2622252292	GJB2	c.393_394insAACA (p.Leu132AsnfsTer?)	gnomAD v4
13	g.20189189G>A	CA483153984	GJB2	c.393C>T (p.Ser131=)
13	g.20189189G>C	CA483153985	GJB2	c.393C>G (p.Ser131=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189189G=	CA2077139332	GJB2	c.393C= (p.Ser131=)
13	g.20189189G>T	CA483153986	GJB2	c.393C>A (p.Ser131=)
13	g.20189190G>A	CA387461244	GJB2	c.392C>T (p.Ser131Phe)
13	g.20189190G>C	CA387461245	GJB2	c.392C>G (p.Ser131Cys)
13	g.20189190G>T	CA387461246	GJB2	c.392C>A (p.Ser131Tyr)
13	g.20189190_20189191insGATTATAGGTATA	CA2622252293	GJB2	c.391_392insTATACCTATAATC (p.Ser131LeufsTer4)	gnomAD v4
13	g.20189191A>C	CA387461247	GJB2	c.391T>G (p.Ser131Ala)
13	g.20189191A>G	CA387461248	GJB2	c.391T>C (p.Ser131Pro)	gnomAD v4
13	g.20189191A>T	CA387461249	GJB2	c.391T>A (p.Ser131Thr)
13	g.20189192G>A	CA483153987	GJB2	c.390C>T (p.Gly130=)
13	g.20189192G>C	CA483153988	GJB2	c.390C>G (p.Gly130=)
13	g.20189192G>T	CA483153989	GJB2	c.390C>A (p.Gly130=)
13	g.20189193C>A	CA387461250	GJB2	c.389G>T (p.Gly130Val)
13	g.20189193C=	CA2077139339	GJB2	c.389G= (p.Gly130=)
13	g.20189193C>G	CA10576937	GJB2	c.389G>C (p.Gly130Ala)	ClinVar dbSNP
13	g.20189193C>T	CA6904274	GJB2	c.389G>A (p.Gly130Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189194C>A	CA387461251	GJB2	c.388G>T (p.Gly130Cys)
13	g.20189194C>G	CA387461252	GJB2	c.388G>C (p.Gly130Arg)
13	g.20189194C>T	CA387461253	GJB2	c.388G>A (p.Gly130Ser)
13	g.20189195T>A	CA387461255	GJB2	c.387A>T (p.Glu129Asp)
13	g.20189195T>C	CA483153990	GJB2	c.387A>G (p.Glu129=)	ClinVar dbSNP
13	g.20189195T>G	CA387461254	GJB2	c.387A>C (p.Glu129Asp)
13	g.20189196T>A	CA387461256	GJB2	c.386A>T (p.Glu129Val)
13	g.20189196T>C	CA387461258	GJB2	c.386A>G (p.Glu129Gly)
13	g.20189196T>G	CA387461257	GJB2	c.386A>C (p.Glu129Ala)
13	g.20189197C>A	CA16044153	GJB2	c.385G>T (p.Glu129Ter)	ClinVar dbSNP
13	g.20189197C=	CA2077139348	GJB2	c.385G= (p.Glu129=)
13	g.20189197C>G	CA387461259	GJB2	c.385G>C (p.Glu129Gln)
13	g.20189197C>T	CA134970	GJB2	c.385G>A (p.Glu129Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189198G>A	CA134968	GJB2	c.384C>T (p.Ile128=)	ClinVar dbSNP gnomAD v4
13	g.20189198G>C	CA387461260	GJB2	c.384C>G (p.Ile128Met)
13	g.20189198G=	CA2077139353	GJB2	c.384C= (p.Ile128=)
13	g.20189198G>T	CA483153991	GJB2	c.384C>A (p.Ile128=)
13	g.20189199A>C	CA387461263	GJB2	c.383T>G (p.Ile128Ser)
13	g.20189199A>G	CA387461262	GJB2	c.383T>C (p.Ile128Thr)
13	g.20189199A>T	CA387461261	GJB2	c.383T>A (p.Ile128Asn)
13	g.20189199_20189205dup	CA2695217670	GJB2	c.377_383dup (p.Glu129ProfsTer?)
13	g.20189200T>A	CA387461264	GJB2	c.382A>T (p.Ile128Phe)
13	g.20189200T>C	CA387461265	GJB2	c.382A>G (p.Ile128Val)	ClinVar dbSNP gnomAD v4
13	g.20189200T>G	CA387461266	GJB2	c.382A>C (p.Ile128Leu)
13	g.20189200T=	CA2077139357	GJB2	c.382A= (p.Ile128=)
13	g.20189201G>A	CA483153994	GJB2	c.381C>T (p.Arg127=)
13	g.20189201G>C	CA483153993	GJB2	c.381C>G (p.Arg127=)
13	g.20189201G=	CA2077139360	GJB2	c.381C= (p.Arg127=)
13	g.20189201G>T	CA483153992	GJB2	c.381C>A (p.Arg127=)	dbSNP
13	g.20189202C>A	CA241521	GJB2	c.380G>T (p.Arg127Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189202C=	CA2077139366	GJB2	c.380G= (p.Arg127=)
13	g.20189202C>G	CA387461267	GJB2	c.380G>C (p.Arg127Pro)
13	g.20189202C>T	CA134966	GJB2	c.380G>A (p.Arg127His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189203G>A	CA176158	GJB2	c.379C>T (p.Arg127Cys)	ClinVar dbSNP gnomAD v4
13	g.20189203G>C	CA246460225	GJB2	c.379C>G (p.Arg127Gly)	ClinVar dbSNP
13	g.20189203G=	CA2077139371	GJB2	c.379C= (p.Arg127=)
13	g.20189203G>T	CA387461268	GJB2	c.379C>A (p.Arg127Ser)
13	g.20189204G>A	CA483153995	GJB2	c.378C>T (p.Val126=)	gnomAD v4
13	g.20189204G>C	CA483153996	GJB2	c.378C>G (p.Val126=)
13	g.20189204G>T	CA483153997	GJB2	c.378C>A (p.Val126=)	ClinVar dbSNP
13	g.20189204_20189205insTCCGCAT	CA2695217671	GJB2	c.377_378insATGCGGA (p.Arg127CysfsTer?)
13	g.20189205A>C	CA387461269	GJB2	c.377T>G (p.Val126Gly)
13	g.20189205A>G	CA387461270	GJB2	c.377T>C (p.Val126Ala)	gnomAD v4
13	g.20189205A>T	CA387461271	GJB2	c.377T>A (p.Val126Asp)
13	g.20189206C>A	CA387461272	GJB2	c.376G>T (p.Val126Phe)
13	g.20189206C=	CA2077139375	GJB2	c.376G= (p.Val126=)
13	g.20189206C>G	CA387461273	GJB2	c.376G>C (p.Val126Leu)
13	g.20189206C>T	CA6904275	GJB2	c.376G>A (p.Val126Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189207C>A	CA387461274	GJB2	c.375G>T (p.Lys125Asn)
13	g.20189207C=	CA2077139380	GJB2	c.375G= (p.Lys125=)
13	g.20189207C>G	CA387461275	GJB2	c.375G>C (p.Lys125Asn)
13	g.20189207C>T	CA483153998	GJB2	c.375G>A (p.Lys125=)	dbSNP gnomAD v4
13	g.20189208T>A	CA387461276	GJB2	c.374A>T (p.Lys125Met)
13	g.20189208T>C	CA387461277	GJB2	c.374A>G (p.Lys125Arg)	gnomAD v4
13	g.20189208T>G	CA387461278	GJB2	c.374A>C (p.Lys125Thr)
13	g.20189209T>A	CA387461279	GJB2	c.373A>T (p.Lys125Ter)
13	g.20189209T>C	CA387461281	GJB2	c.373A>G (p.Lys125Glu)
13	g.20189209T>G	CA387461280	GJB2	c.373A>C (p.Lys125Gln)	dbSNP gnomAD v2 gnomAD v4
13	g.20189209T=	CA2077139383	GJB2	c.373A= (p.Lys125=)
13	g.20189210C>A	CA387461282	GJB2	c.372G>T (p.Gln124His)
13	g.20189210C>G	CA387461283	GJB2	c.372G>C (p.Gln124His)
13	g.20189210C>T	CA483153999	GJB2	c.372G>A (p.Gln124=)
13	g.20189211T>A	CA387461284	GJB2	c.371A>T (p.Gln124Leu)
13	g.20189211T>C	CA387461285	GJB2	c.371A>G (p.Gln124Arg)
13	g.20189211T>G	CA387461286	GJB2	c.371A>C (p.Gln124Pro)	ClinVar
13	g.20189211_20189212delinsTG	CA2077139387	GJB2	c.370_371delinsCA (p.Gln124=)
13	g.20189212G>A	CA261645	GJB2	c.370C>T (p.Gln124Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189212G>C	CA387461287	GJB2	c.370C>G (p.Gln124Glu)
13	g.20189212G=	CA2077139394	GJB2	c.370C= (p.Gln124=)
13	g.20189212G>T	CA387461288	GJB2	c.370C>A (p.Gln124Lys)
13	g.20189214del	CA696362935	GJB2	c.370del (p.Gln124ArgfsTer?)	dbSNP
13	g.20189213G>A	CA483154000	GJB2	c.369C>T (p.Thr123=)	gnomAD v4
13	g.20189213G>C	CA483154001	GJB2	c.369C>G (p.Thr123=)
13	g.20189213G>T	CA483154002	GJB2	c.369C>A (p.Thr123=)
13	g.20189214G>A	CA387461289	GJB2	c.368C>T (p.Thr123Ile)
13	g.20189214G>C	CA387461290	GJB2	c.368C>G (p.Thr123Ser)
13	g.20189214G=	CA2077139401	GJB2	c.368C= (p.Thr123=)
13	g.20189214G>T	CA134964	GJB2	c.368C>A (p.Thr123Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189215T>A	CA387461293	GJB2	c.367A>T (p.Thr123Ser)
13	g.20189215T>C	CA387461292	GJB2	c.367A>G (p.Thr123Ala)
13	g.20189215T>G	CA387461291	GJB2	c.367A>C (p.Thr123Pro)
13	g.20189218del	CA2695217672	GJB2	c.367del (p.Thr123ProfsTer?)
13	g.20189216T>A	CA387461294	GJB2	c.366A>T (p.Lys122Asn)
13	g.20189216T>C	CA483154003	GJB2	c.366A>G (p.Lys122=)
13	g.20189216T>G	CA387461295	GJB2	c.366A>C (p.Lys122Asn)
13	g.20189217T>A	CA172230	GJB2	c.365A>T (p.Lys122Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189217T>C	CA387461296	GJB2	c.365A>G (p.Lys122Arg)
13	g.20189217T>G	CA246460258	GJB2	c.365A>C (p.Lys122Thr)	dbSNP gnomAD v4
13	g.20189217T=	CA2077139408	GJB2	c.365A= (p.Lys122=)
13	g.20189218T>A	CA387461297	GJB2	c.364A>T (p.Lys122Ter)
13	g.20189218T>C	CA387461298	GJB2	c.364A>G (p.Lys122Glu)
13	g.20189218T>G	CA387461299	GJB2	c.364A>C (p.Lys122Gln)
13	g.20189218_20189219delinsTG	CA2077139417	GJB2	c.363_364delinsCA (p.Ile121=)
13	g.20189219del	CA608984164	GJB2	c.363del (p.Thr123ProfsTer?)	dbSNP gnomAD v2 gnomAD v4
13	g.20189219G>A	CA483154004	GJB2	c.363C>T (p.Ile121=)	dbSNP gnomAD v2 gnomAD v4
13	g.20189219G>C	CA387461300	GJB2	c.363C>G (p.Ile121Met)	gnomAD v4
13	g.20189219G=	CA2077139419	GJB2	c.363C= (p.Ile121=)
13	g.20189219G>T	CA483154005	GJB2	c.363C>A (p.Ile121=)	ClinVar dbSNP gnomAD v4
13	g.20189222_20189230del	CA2695217673	GJB2	c.355_363del (p.Glu119_Ile121del)
13	g.20189220A=	CA2077139423	GJB2	c.362T= (p.Ile121=)
13	g.20189220A>C	CA387461301	GJB2	c.362T>G (p.Ile121Ser)
13	g.20189220A>G	CA387461302	GJB2	c.362T>C (p.Ile121Thr)	ClinVar dbSNP
13	g.20189220A>T	CA387461303	GJB2	c.362T>A (p.Ile121Asn)
13	g.20189221T>A	CA387461305	GJB2	c.361A>T (p.Ile121Phe)
13	g.20189221T>C	CA387461306	GJB2	c.361A>G (p.Ile121Val)	dbSNP gnomAD v4
13	g.20189221T>G	CA387461304	GJB2	c.361A>C (p.Ile121Leu)	dbSNP
13	g.20189221T=	CA2077139429	GJB2	c.361A= (p.Ile121=)
13	g.20189221_20189224delinsTCTC	CA2077139427	GJB2	c.358_361delinsGAGA (p.Glu120=)
13	g.20189222del	CA2695217674	GJB2	c.360del (p.Ile121SerfsTer?)
13	g.20189222C>A	CA387461307	GJB2	c.360G>T (p.Glu120Asp)
13	g.20189222C>G	CA387461308	GJB2	c.360G>C (p.Glu120Asp)
13	g.20189222C>T	CA483154006	GJB2	c.360G>A (p.Glu120=)
13	g.20189225_20189227del	CA172226	GJB2	c.358_360del (p.Glu120del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189223T>A	CA387461309	GJB2	c.359A>T (p.Glu120Val)
13	g.20189223T>C	CA387461310	GJB2	c.359A>G (p.Glu120Gly)
13	g.20189223T>G	CA387461311	GJB2	c.359A>C (p.Glu120Ala)
13	g.20189224C>A	CA387461312	GJB2	c.358G>T (p.Glu120Ter)
13	g.20189224C=	CA2077139436	GJB2	c.358G= (p.Glu120=)
13	g.20189224C>G	CA387461313	GJB2	c.358G>C (p.Glu120Gln)
13	g.20189224C>T	CA6904276	GJB2	c.358G>A (p.Glu120Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189224_20189226delinsCCT	CA2077139438	GJB2	c.356_358delinsAGG (p.Glu119=)
13	g.20189225C>A	CA387461314	GJB2	c.357G>T (p.Glu119Asp)
13	g.20189225C>G	CA387461315	GJB2	c.357G>C (p.Glu119Asp)
13	g.20189225C>T	CA483154007	GJB2	c.357G>A (p.Glu119=)	COSMIC
13	g.20189226_20189227del	CA2077139441	GJB2	c.356_357del (p.Glu119GlyfsTer?)	dbSNP
13	g.20189226T>A	CA387461316	GJB2	c.356A>T (p.Glu119Val)
13	g.20189226T>C	CA387461317	GJB2	c.356A>G (p.Glu119Gly)
13	g.20189226T>G	CA387461318	GJB2	c.356A>C (p.Glu119Ala)
13	g.20189227_20189230dup	CA2695217675	GJB2	c.353_356dup (p.Glu119AspfsTer?)	ClinVar
13	g.20189227C>A	CA387461319	GJB2	c.355G>T (p.Glu119Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189227C=	CA2077139448	GJB2	c.355G= (p.Glu119=)
13	g.20189227C>G	CA387461320	GJB2	c.355G>C (p.Glu119Gln)
13	g.20189227C>T	CA273833	GJB2	c.355G>A (p.Glu119Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189228G>A	CA483154008	GJB2	c.354C>T (p.Ile118=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189228G>C	CA387461321	GJB2	c.354C>G (p.Ile118Met)	gnomAD v4
13	g.20189228G=	CA2077139451	GJB2	c.354C= (p.Ile118=)
13	g.20189228G>T	CA483154009	GJB2	c.354C>A (p.Ile118=)
13	g.20189229A=	CA2077139452	GJB2	c.353T= (p.Ile118=)
13	g.20189229A>C	CA387461322	GJB2	c.353T>G (p.Ile118Ser)
13	g.20189229A>G	CA6904277	GJB2	c.353T>C (p.Ile118Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189229A>T	CA387461323	GJB2	c.353T>A (p.Ile118Asn)
13	g.20189230T>A	CA387461324	GJB2	c.352A>T (p.Ile118Phe)
13	g.20189230T>C	CA387461325	GJB2	c.352A>G (p.Ile118Val)	gnomAD v4
13	g.20189230T>G	CA387461326	GJB2	c.352A>C (p.Ile118Leu)
13	g.20189231G>A	CA483154010	GJB2	c.351C>T (p.Asp117=)	ClinVar
13	g.20189231G>C	CA387461327	GJB2	c.351C>G (p.Asp117Glu)
13	g.20189231G>T	CA387461328	GJB2	c.351C>A (p.Asp117Glu)
13	g.20189232T>A	CA6904278	GJB2	c.350A>T (p.Asp117Val)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189232T>C	CA134962	GJB2	c.350A>G (p.Asp117Gly)	ClinVar dbSNP
13	g.20189232T>G	CA387461329	GJB2	c.350A>C (p.Asp117Ala)
13	g.20189232T=	CA2077139453	GJB2	c.350A= (p.Asp117=)
13	g.20189233C>A	CA387461330	GJB2	c.349G>T (p.Asp117Tyr)	ClinVar dbSNP
13	g.20189233C>G	CA387461332	GJB2	c.349G>C (p.Asp117His)
13	g.20189233C>T	CA387461331	GJB2	c.349G>A (p.Asp117Asn)
13	g.20189234C>A	CA387461333	GJB2	c.348G>T (p.Lys116Asn)
13	g.20189234C>G	CA387461334	GJB2	c.348G>C (p.Lys116Asn)
13	g.20189234C>T	CA483154011	GJB2	c.348G>A (p.Lys116=)
13	g.20189235T>A	CA387461335	GJB2	c.347A>T (p.Lys116Met)
13	g.20189235T>C	CA387461336	GJB2	c.347A>G (p.Lys116Arg)
13	g.20189235T>G	CA387461337	GJB2	c.347A>C (p.Lys116Thr)
13	g.20189236T>A	CA387461338	GJB2	c.346A>T (p.Lys116Ter)
13	g.20189236T>C	CA387461339	GJB2	c.346A>G (p.Lys116Glu)	dbSNP
13	g.20189236T>G	CA387461340	GJB2	c.346A>C (p.Lys116Gln)
13	g.20189236T=	CA2077139454	GJB2	c.346A= (p.Lys116=)
13	g.20189237A=	CA2077139455	GJB2	c.345T= (p.Phe115=)
13	g.20189237A>C	CA387461341	GJB2	c.345T>G (p.Phe115Leu)	dbSNP gnomAD v4
13	g.20189237A>G	CA483154012	GJB2	c.345T>C (p.Phe115=)
13	g.20189237A>T	CA387461342	GJB2	c.345T>A (p.Phe115Leu)
13	g.20189239dup	CA2695217676	GJB2	c.345dup (p.Lys116Ter)	ClinVar
13	g.20189238A=	CA2077139456	GJB2	c.344T= (p.Phe115=)
13	g.20189238A>C	CA387461343	GJB2	c.344T>G (p.Phe115Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189238A>G	CA387461344	GJB2	c.344T>C (p.Phe115Ser)
13	g.20189238A>T	CA387461345	GJB2	c.344T>A (p.Phe115Tyr)
13	g.20189239A=	CA2077139459	GJB2	c.343T= (p.Phe115=)
13	g.20189239A>C	CA387461348	GJB2	c.343T>G (p.Phe115Val)	dbSNP gnomAD v2 gnomAD v4
13	g.20189239A>G	CA387461346	GJB2	c.343T>C (p.Phe115Leu)
13	g.20189239A>T	CA387461347	GJB2	c.343T>A (p.Phe115Ile)
13	g.20189240T>A	CA387461349	GJB2	c.342A>T (p.Glu114Asp)
13	g.20189240T>C	CA483154013	GJB2	c.342A>G (p.Glu114=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189240T>G	CA387461350	GJB2	c.342A>C (p.Glu114Asp)	dbSNP
13	g.20189240T=	CA2077139461	GJB2	c.342A= (p.Glu114=)
13	g.20189240_20189241delinsTT	CA2077139462	GJB2	c.341_342delinsAA (p.Glu114=)
13	g.20189241dup	CA912980094	GJB2	c.342dup (p.Phe115IlefsTer2)
13	g.20189241T>A	CA387461351	GJB2	c.341A>T (p.Glu114Val)
13	g.20189241T>C	CA134960	GJB2	c.341A>G (p.Glu114Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.[20189241T>C;20189503C>T]	CA354398	GJB2	c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly])	ClinVar
13	g.20189241T>G	CA387461352	GJB2	c.341A>C (p.Glu114Ala)
13	g.20189241T=	CA2077139464	GJB2	c.341A= (p.Glu114=)
13	g.20189241delinsAG	CA919221226	GJB2	c.341delinsCT (p.Glu114AlafsTer3)	dbSNP
13	g.20189243_20189246dup	CA608984165	GJB2	c.338_341dup (p.Phe115Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189242C>A	CA387461353	GJB2	c.340G>T (p.Glu114Ter)
13	g.20189242C=	CA2077139466	GJB2	c.340G= (p.Glu114=)
13	g.20189242C>G	CA387461354	GJB2	c.340G>C (p.Glu114Gln)
13	g.20189242C>T	CA6904279	GJB2	c.340G>A (p.Glu114Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189243A=	CA2077139470	GJB2	c.339T= (p.Ser113=)
13	g.20189243A>C	CA342004	GJB2	c.339T>G (p.Ser113Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189243A>G	CA483154014	GJB2	c.339T>C (p.Ser113=)
13	g.20189243A>T	CA387461355	GJB2	c.339T>A (p.Ser113Arg)
13	g.20189244C>A	CA387461356	GJB2	c.338G>T (p.Ser113Ile)
13	g.20189244C>G	CA387461357	GJB2	c.338G>C (p.Ser113Thr)
13	g.20189244C>T	CA387461358	GJB2	c.338G>A (p.Ser113Asn)
13	g.20189245T>A	CA387461360	GJB2	c.337A>T (p.Ser113Cys)
13	g.20189245T>C	CA387461361	GJB2	c.337A>G (p.Ser113Gly)	dbSNP gnomAD v3 gnomAD v4
13	g.20189245T>G	CA387461359	GJB2	c.337A>C (p.Ser113Arg)
13	g.20189245T=	CA2077139475	GJB2	c.337A= (p.Ser113=)
13	g.20189246_20189249del	CA2575364820	GJB2	c.334_337del (p.Lys112ValfsTer?)
13	g.20189246C>A	CA387461362	GJB2	c.336G>T (p.Lys112Asn)	dbSNP
13	g.20189246C=	CA2077139479	GJB2	c.336G= (p.Lys112=)
13	g.20189246C>G	CA387461363	GJB2	c.336G>C (p.Lys112Asn)
13	g.20189246C>T	CA483154015	GJB2	c.336G>A (p.Lys112=)	dbSNP
13	g.20189246_20189248delinsCTT	CA2077139478	GJB2	c.334_336delinsAAG (p.Lys112=)
13	g.20189247T>A	CA387461364	GJB2	c.335A>T (p.Lys112Met)
13	g.20189247T>C	CA387461365	GJB2	c.335A>G (p.Lys112Arg)
13	g.20189247T>G	CA387461366	GJB2	c.335A>C (p.Lys112Thr)
13	g.20189248_20189249del	CA274322	GJB2	c.334_335del (p.Lys112GlufsTer2)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189248T>A	CA387461367	GJB2	c.334A>T (p.Lys112Ter)
13	g.20189248T>C	CA387461368	GJB2	c.334A>G (p.Lys112Glu)
13	g.20189248T>G	CA387461369	GJB2	c.334A>C (p.Lys112Gln)
13	g.20189249T>A	CA483154016	GJB2	c.333A>T (p.Ile111=)
13	g.20189249T>C	CA387461370	GJB2	c.333A>G (p.Ile111Met)	gnomAD v4
13	g.20189249T>G	CA483154017	GJB2	c.333A>C (p.Ile111=)
13	g.20189250A=	CA2077139482	GJB2	c.332T= (p.Ile111=)
13	g.20189250A>C	CA387461371	GJB2	c.332T>G (p.Ile111Arg)
13	g.20189250A>G	CA387461372	GJB2	c.332T>C (p.Ile111Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189250A>T	CA387461373	GJB2	c.332T>A (p.Ile111Lys)
13	g.20189251T>A	CA387461374	GJB2	c.331A>T (p.Ile111Leu)
13	g.20189251T>C	CA246460323	GJB2	c.331A>G (p.Ile111Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189251T>G	CA387461375	GJB2	c.331A>C (p.Ile111Leu)
13	g.20189251T=	CA2077139486	GJB2	c.331A= (p.Ile111=)
13	g.20189252C>A	CA387461376	GJB2	c.330G>T (p.Glu110Asp)
13	g.20189252C>G	CA387461377	GJB2	c.330G>C (p.Glu110Asp)
13	g.20189252C>T	CA483153736	GJB2	c.330G>A (p.Glu110=)	ClinVar
13	g.20189252_20189268delinsCTCCCCCTTGATGAACT	CA2077139491	GJB2	c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=)
13	g.20189253del	CA2695217677	GJB2	c.329del (p.Glu110GlyfsTer2)
13	g.20189253T>A	CA387461378	GJB2	c.329A>T (p.Glu110Val)
13	g.20189253T>C	CA387461379	GJB2	c.329A>G (p.Glu110Gly)	gnomAD v4
13	g.20189253T>G	CA387461380	GJB2	c.329A>C (p.Glu110Ala)
13	g.20189253_20189255delinsTCC	CA2077139497	GJB2	c.327_329delinsGGA (p.Gly109=)
13	g.20189256_20189271del	CA277273	GJB2	c.314_329del (p.Lys105ArgfsTer2)	ClinVar dbSNP
13	g.20189254C>A	CA6904280	GJB2	c.328G>T (p.Glu110Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189254C=	CA2077139502	GJB2	c.328G= (p.Glu110=)
13	g.20189254C>G	CA387461381	GJB2	c.328G>C (p.Glu110Gln)
13	g.20189254C>T	CA387461382	GJB2	c.328G>A (p.Glu110Lys)
13	g.20189254_20189255delinsT	CA658823452	GJB2	c.327_328delinsA (p.Glu110ArgfsTer2)	ClinVar dbSNP
13	g.20189258dup	CA2798416346	GJB2	c.328dup (p.Glu110GlyfsTer5)
13	g.20189258del	CA2580086790	GJB2	c.328del (p.Glu110ArgfsTer2)	ClinVar gnomAD v4
13	g.20189257_20189258del	CA2695217678	GJB2	c.327_328del (p.Glu110AspfsTer4)
13	g.20189255C>A	CA246460332	GJB2	c.327G>T (p.Gly109=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189255C=	CA2077139508	GJB2	c.327G= (p.Gly109=)
13	g.20189255C>G	CA483153737	GJB2	c.327G>C (p.Gly109=)
13	g.20189255C>T	CA246460335	GJB2	c.327G>A (p.Gly109=)	ClinVar dbSNP gnomAD v4
13	g.20189255_20189268del	CA2695217679	GJB2	c.314_327del (p.Lys105ArgfsTer5)
13	g.20189255_20189269delinsCCCCTTGATGAACTT	CA2077139507	GJB2	c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=)
13	g.20189256C>A	CA387461383	GJB2	c.326G>T (p.Gly109Val)	ClinVar dbSNP
13	g.20189256C=	CA2077139513	GJB2	c.326G= (p.Gly109=)
13	g.20189256C>G	CA387461384	GJB2	c.326G>C (p.Gly109Ala)
13	g.20189256C>T	CA6904281	GJB2	c.326G>A (p.Gly109Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189258_20189271del	CA172223	GJB2	c.313_326del (p.Lys105GlyfsTer5)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched