Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189252_20189268delinsCTCCCCCTTGATGAACT	CA2077139491	GJB2	c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=)
13	g.20189256_20189271del	CA277273	GJB2	c.314_329del (p.Lys105ArgfsTer2)	ClinVar dbSNP
13	g.20189255_20189268del	CA2695217679	GJB2	c.314_327del (p.Lys105ArgfsTer5)
13	g.20189255_20189269delinsCCCCTTGATGAACTT	CA2077139507	GJB2	c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=)
13	g.20189258_20189271del	CA172223	GJB2	c.313_326del (p.Lys105GlyfsTer5)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189259_20189272del	CA2695217680	GJB2	c.310_323del (p.Arg104GlyfsTer6)
13	g.20189263T>A	CA387461400	GJB2	c.319A>T (p.Ile107Phe)
13	g.20189263T>C	CA246460359	GJB2	c.319A>G (p.Ile107Val)	dbSNP
13	g.20189263T>G	CA387461399	GJB2	c.319A>C (p.Ile107Leu)	dbSNP gnomAD v2 gnomAD v4
13	g.20189263T=	CA2077139538	GJB2	c.319A= (p.Ile107=)
13	g.20189264G>A	CA483153740	GJB2	c.318C>T (p.Phe106=)	ClinVar gnomAD v4
13	g.20189264G>C	CA387461401	GJB2	c.318C>G (p.Phe106Leu)
13	g.20189264G=	CA2077139544	GJB2	c.318C= (p.Phe106=)
13	g.20189264G>T	CA6904282	GJB2	c.318C>A (p.Phe106Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189265A=	CA2077139547	GJB2	c.317T= (p.Phe106=)
13	g.20189265A>C	CA387461402	GJB2	c.317T>G (p.Phe106Cys)
13	g.20189265A>G	CA387461403	GJB2	c.317T>C (p.Phe106Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189265A>T	CA387461404	GJB2	c.317T>A (p.Phe106Tyr)
13	g.20189266A>C	CA387461405	GJB2	c.316T>G (p.Phe106Val)
13	g.20189266A>G	CA387461406	GJB2	c.316T>C (p.Phe106Leu)	gnomAD v4
13	g.20189266A>T	CA387461407	GJB2	c.316T>A (p.Phe106Ile)
13	g.20189266_20189279del	CA2695217681	GJB2	c.303_316del (p.Glu101AspfsTer9)
13	g.20189267C>A	CA387461408	GJB2	c.315G>T (p.Lys105Asn)	gnomAD v4
13	g.20189267C>G	CA387461409	GJB2	c.315G>C (p.Lys105Asn)
13	g.20189267C>T	CA483153741	GJB2	c.315G>A (p.Lys105=)
13	g.20189268T>A	CA387461410	GJB2	c.314A>T (p.Lys105Met)
13	g.20189268T>C	CA387461411	GJB2	c.314A>G (p.Lys105Arg)
13	g.20189268T>G	CA387461412	GJB2	c.314A>C (p.Lys105Thr)
13	g.20189268_20189269del	CA2695217683	GJB2	c.313_314del (p.Lys105ValfsTer9)
13	g.20189269del	CA2695217682	GJB2	c.314del (p.Lys105SerfsTer7)
13	g.20189269T>A	CA387461415	GJB2	c.313A>T (p.Lys105Ter)
13	g.20189269T>C	CA387461414	GJB2	c.313A>G (p.Lys105Glu)
13	g.20189269T>G	CA387461413	GJB2	c.313A>C (p.Lys105Gln)
13	g.20189270C>A	CA6904283	GJB2	c.312G>T (p.Arg104Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189270C=	CA2077139553	GJB2	c.312G= (p.Arg104=)
13	g.20189270C>G	CA387461416	GJB2	c.312G>C (p.Arg104Ser)
13	g.20189270C>T	CA246460386	GJB2	c.312G>A (p.Arg104=)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20189271C>A	CA387461417	GJB2	c.311G>T (p.Arg104Met)
13	g.20189271C>G	CA387461418	GJB2	c.311G>C (p.Arg104Thr)	gnomAD v4
13	g.20189271C>T	CA387461419	GJB2	c.311G>A (p.Arg104Lys)	gnomAD v4
13	g.20189271_20189274delinsCTCT	CA2077139558	GJB2	c.308_311delinsAGAG (p.Lys103=)
13	g.20189272T>A	CA387461420	GJB2	c.310A>T (p.Arg104Trp)
13	g.20189272T>C	CA387461421	GJB2	c.310A>G (p.Arg104Gly)	gnomAD v4
13	g.20189272T>G	CA483153742	GJB2	c.310A>C (p.Arg104=)	ClinVar dbSNP
13	g.20189272T=	CA2077139564	GJB2	c.310A= (p.Arg104=)
13	g.20189278_20189280del	CA645587645	GJB2	c.308_310del (p.Lys103del)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20189273C>A	CA387461422	GJB2	c.309G>T (p.Lys103Asn)
13	g.20189273C=	CA2077139569	GJB2	c.309G= (p.Lys103=)
13	g.20189273C>G	CA387461423	GJB2	c.309G>C (p.Lys103Asn)
13	g.20189273C>T	CA483153743	GJB2	c.309G>A (p.Lys103=)	dbSNP gnomAD v4
13	g.20189274T>A	CA246460392	GJB2	c.308A>T (p.Lys103Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189274T>C	CA387461424	GJB2	c.308A>G (p.Lys103Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189274T>G	CA387461425	GJB2	c.308A>C (p.Lys103Thr)
13	g.20189274T=	CA2077139572	GJB2	c.308A= (p.Lys103=)
13	g.20189275T>A	CA387461428	GJB2	c.307A>T (p.Lys103Ter)
13	g.20189275T>C	CA387461427	GJB2	c.307A>G (p.Lys103Glu)
13	g.20189275T>G	CA387461426	GJB2	c.307A>C (p.Lys103Gln)
13	g.20189275T=	CA2077139579	GJB2	c.307A= (p.Lys103=)
13	g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG	CA2077139585	GJB2	c.306_307insCAAGTGAGATCCACTCTTCAGA (p.Lys103GlnfsTer19)	dbSNP
13	g.20189276C>A	CA387461429	GJB2	c.306G>T (p.Lys102Asn)
13	g.20189276C=	CA2077139588	GJB2	c.306G= (p.Lys102=)
13	g.20189276C>G	CA6904285	GJB2	c.306G>C (p.Lys102Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189276C>T	CA6904284	GJB2	c.306G>A (p.Lys102=)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189277T>A	CA387461430	GJB2	c.305A>T (p.Lys102Met)
13	g.20189277T>C	CA387461431	GJB2	c.305A>G (p.Lys102Arg)
13	g.20189277T>G	CA387461432	GJB2	c.305A>C (p.Lys102Thr)
13	g.20189278T>A	CA387461433	GJB2	c.304A>T (p.Lys102Ter)
13	g.20189278T>C	CA387461434	GJB2	c.304A>G (p.Lys102Glu)	gnomAD v4
13	g.20189278T>G	CA387461435	GJB2	c.304A>C (p.Lys102Gln)	gnomAD v4
13	g.20189278_20189281del	CA912980095	GJB2	c.301_304del (p.Glu101ArgfsTer10)
13	g.20189278_20189281delinsTCTC	CA2077139597	GJB2	c.301_304delinsGAGA (p.Glu101=)
13	g.20189279C>A	CA387461436	GJB2	c.303G>T (p.Glu101Asp)
13	g.20189279C>G	CA387461437	GJB2	c.303G>C (p.Glu101Asp)	gnomAD v4
13	g.20189279C>T	CA483153744	GJB2	c.303G>A (p.Glu101=)	ClinVar
13	g.20189279_20189281del	CA658823458	GJB2	c.301_303del (p.Glu101del)	ClinVar dbSNP gnomAD v4
13	g.20189280T>A	CA387461440	GJB2	c.302A>T (p.Glu101Val)
13	g.20189280T>C	CA387461439	GJB2	c.302A>G (p.Glu101Gly)
13	g.20189280T>G	CA387461438	GJB2	c.302A>C (p.Glu101Ala)
13	g.20189281C>A	CA387461443	GJB2	c.301G>T (p.Glu101Ter)
13	g.20189281C>G	CA387461441	GJB2	c.301G>C (p.Glu101Gln)
13	g.20189281C>T	CA387461442	GJB2	c.301G>A (p.Glu101Lys)
13	g.20189281_20189283delinsCAT	CA2077139606	GJB2	c.299_301delinsATG (p.His100=)
13	g.20189282A=	CA2077139615	GJB2	c.300T= (p.His100=)
13	g.20189282A>C	CA387461444	GJB2	c.300T>G (p.His100Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189282A>G	CA483153745	GJB2	c.300T>C (p.His100=)	ClinVar dbSNP
13	g.20189282A>T	CA387461445	GJB2	c.300T>A (p.His100Gln)	gnomAD v4
13	g.20189282_20189283del	CA261643	GJB2	c.299_300del (p.His100ArgfsTer14)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189283T>A	CA387461446	GJB2	c.299A>T (p.His100Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189283T>C	CA387461447	GJB2	c.299A>G (p.His100Arg)
13	g.20189283T>G	CA387461448	GJB2	c.299A>C (p.His100Pro)
13	g.20189283T=	CA2077139623	GJB2	c.299A= (p.His100=)
13	g.20189283_20189284delinsTG	CA2077139622	GJB2	c.298_299delinsCA (p.His100=)
13	g.20189284del	CA6904286	GJB2	c.298del (p.His100MetfsTer12)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189284G>A	CA172221	GJB2	c.298C>T (p.His100Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189284G>C	CA387461449	GJB2	c.298C>G (p.His100Asp)
13	g.20189284G=	CA2077139632	GJB2	c.298C= (p.His100=)
13	g.20189284G>T	CA387461450	GJB2	c.298C>A (p.His100Asn)
13	g.20189286_20189292dup	CA2695217684	GJB2	c.292_298dup (p.His100ProfsTer4)
13	g.20189285T>A	CA246460435	GJB2	c.297A>T (p.Arg99Ser)	dbSNP
13	g.20189285T>C	CA483153746	GJB2	c.297A>G (p.Arg99=)	gnomAD v4
13	g.20189285T>G	CA387461451	GJB2	c.297A>C (p.Arg99Ser)
13	g.20189285T=	CA2077139637	GJB2	c.297A= (p.Arg99=)
13	g.20189287_20189288del	CA2695217685	GJB2	c.296_297del (p.Arg99ThrfsTer2)
13	g.20189285_20189286insA	CA2077139640	GJB2	c.296_297insT (p.Arg99SerfsTer3)	dbSNP
13	g.20189286C>A	CA387461452	GJB2	c.296G>T (p.Arg99Ile)
13	g.20189286C=	CA2077139642	GJB2	c.296G= (p.Arg99=)
13	g.20189286C>G	CA387461453	GJB2	c.296G>C (p.Arg99Thr)
13	g.20189286C>T	CA387461454	GJB2	c.296G>A (p.Arg99Lys)	dbSNP gnomAD v4
13	g.20189287T>A	CA387461455	GJB2	c.295A>T (p.Arg99Ter)
13	g.20189287T>C	CA387461456	GJB2	c.295A>G (p.Arg99Gly)
13	g.20189287T>G	CA483153747	GJB2	c.295A>C (p.Arg99=)
13	g.20189287_20189292delinsCGGG	CA2695217710	GJB2	c.290_295delinsCCCG (p.Tyr97SerfsTer4)
13	g.20189288C>A	CA483153748	GJB2	c.294G>T (p.Arg98=)
13	g.20189288C=	CA2077139645	GJB2	c.294G= (p.Arg98=)
13	g.20189288C>G	CA483153749	GJB2	c.294G>C (p.Arg98=)	ClinVar dbSNP
13	g.20189288C>T	CA483153750	GJB2	c.294G>A (p.Arg98=)	dbSNP gnomAD v2 gnomAD v4
13	g.20189289C>A	CA387461457	GJB2	c.293G>T (p.Arg98Leu)
13	g.20189289C=	CA2077139651	GJB2	c.293G= (p.Arg98=)
13	g.20189289C>G	CA387461458	GJB2	c.293G>C (p.Arg98Pro)
13	g.20189289C>T	CA6904287	GJB2	c.293G>A (p.Arg98Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189290G>A	CA6904288	GJB2	c.292C>T (p.Arg98Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189290G>C	CA387461459	GJB2	c.292C>G (p.Arg98Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189290G=	CA2077139653	GJB2	c.292C= (p.Arg98=)
13	g.20189290G>T	CA483153751	GJB2	c.292C>A (p.Arg98=)
13	g.20189291G>A	CA6904289	GJB2	c.291C>T (p.Tyr97=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189291G>C	CA387461460	GJB2	c.291C>G (p.Tyr97Ter)	gnomAD v4
13	g.20189291G=	CA2077139659	GJB2	c.291C= (p.Tyr97=)
13	g.20189291G>T	CA387461461	GJB2	c.291C>A (p.Tyr97Ter)
13	g.20189292T>A	CA387461464	GJB2	c.290A>T (p.Tyr97Phe)
13	g.20189292T>C	CA387461462	GJB2	c.290A>G (p.Tyr97Cys)
13	g.20189292T>G	CA387461463	GJB2	c.290A>C (p.Tyr97Ser)
13	g.20189292dup	CA274000	GJB2	c.290dup (p.Tyr97Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189293A=	CA2077139661	GJB2	c.289T= (p.Tyr97=)
13	g.20189293A>C	CA387461466	GJB2	c.289T>G (p.Tyr97Asp)
13	g.20189293A>G	CA387461465	GJB2	c.289T>C (p.Tyr97His)	dbSNP gnomAD v3 gnomAD v4
13	g.20189293A>T	CA387461467	GJB2	c.289T>A (p.Tyr97Asn)
13	g.20189293_20189294insATGCCCATTAATTATTATTGAGCCCATTATTATTAATAAGCCCATTAAGGGCTGAGAAATAGATTTCTTTCCTTTCCTTTTCTTTTTTATATGAAATTAAAT	CA2622252295	GJB2	c.288_289insATTTAATTTCATATAAAAAAGAAAAGGAAAGGAAAGAAATCTATTTCTCAGCCCTTAATGGGCTTATTAATAATAATGGGCTCAATAATAATTAATGGGCAT	gnomAD v4
13	g.20189294G>A	CA6904290	GJB2	c.288C>T (p.Ala96=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189294G>C	CA483153753	GJB2	c.288C>G (p.Ala96=)
13	g.20189294G=	CA2077139663	GJB2	c.288C= (p.Ala96=)
13	g.20189294G>T	CA483153752	GJB2	c.288C>A (p.Ala96=)
13	g.20189295G>A	CA387461468	GJB2	c.287C>T (p.Ala96Val)
13	g.20189295G>C	CA6904291	GJB2	c.287C>G (p.Ala96Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189295G=	CA2077139666	GJB2	c.287C= (p.Ala96=)
13	g.20189295G>T	CA387461469	GJB2	c.287C>A (p.Ala96Asp)
13	g.20189296C>A	CA387461470	GJB2	c.286G>T (p.Ala96Ser)
13	g.20189296C>G	CA387461471	GJB2	c.286G>C (p.Ala96Pro)
13	g.20189296C>T	CA387461472	GJB2	c.286G>A (p.Ala96Thr)	gnomAD v4
13	g.20189297C>A	CA483153754	GJB2	c.285G>T (p.Val95=)
13	g.20189297C=	CA2077139668	GJB2	c.285G= (p.Val95=)
13	g.20189297C>G	CA483153756	GJB2	c.285G>C (p.Val95=)
13	g.20189297C>T	CA483153755	GJB2	c.285G>A (p.Val95=)
13	g.20189298A=	CA2077139671	GJB2	c.284T= (p.Val95=)
13	g.20189298A>C	CA387461473	GJB2	c.284T>G (p.Val95Gly)
13	g.20189298A>G	CA387461474	GJB2	c.284T>C (p.Val95Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189298A>T	CA387461475	GJB2	c.284T>A (p.Val95Glu)	dbSNP gnomAD v3 gnomAD v4
13	g.20189298_20189302dup	CA10575531	GJB2	c.280_284dup (p.Ala96ThrfsTer18)	ClinVar dbSNP
13	g.20189299C>A	CA387461477	GJB2	c.283G>T (p.Val95Leu)
13	g.20189299C=	CA2077139672	GJB2	c.283G= (p.Val95=)
13	g.20189299C>G	CA387461476	GJB2	c.283G>C (p.Val95Leu)
13	g.20189299C>T	CA172220	GJB2	c.283G>A (p.Val95Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189300G>A	CA6904292	GJB2	c.282C>T (p.His94=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189300G>C	CA387461478	GJB2	c.282C>G (p.His94Gln)	dbSNP gnomAD v2
13	g.20189300G=	CA2077139673	GJB2	c.282C= (p.His94=)
13	g.20189300G>T	CA387461479	GJB2	c.282C>A (p.His94Gln)
13	g.20189301T>A	CA134958	GJB2	c.281A>T (p.His94Leu)	ClinVar dbSNP COSMIC
13	g.20189301T>C	CA387461480	GJB2	c.281A>G (p.His94Arg)
13	g.20189301T>G	CA387461481	GJB2	c.281A>C (p.His94Pro)
13	g.20189301T=	CA2077139675	GJB2	c.281A= (p.His94=)
13	g.20189302G>A	CA387461482	GJB2	c.280C>T (p.His94Tyr)	ClinVar dbSNP
13	g.20189302G>C	CA387461483	GJB2	c.280C>G (p.His94Asp)
13	g.20189302G=	CA2077139677	GJB2	c.280C= (p.His94=)
13	g.20189302G>T	CA387461484	GJB2	c.280C>A (p.His94Asn)
13	g.20189303C>A	CA387461485	GJB2	c.279G>T (p.Met93Ile)
13	g.20189303C=	CA2077139678	GJB2	c.279G= (p.Met93=)
13	g.20189303C>G	CA387461486	GJB2	c.279G>C (p.Met93Ile)	gnomAD v4 COSMIC
13	g.20189303C>T	CA134957	GJB2	c.279G>A (p.Met93Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189304A=	CA2077139679	GJB2	c.278T= (p.Met93=)
13	g.20189304A>C	CA387461489	GJB2	c.278T>G (p.Met93Arg)
13	g.20189304A>G	CA387461488	GJB2	c.278T>C (p.Met93Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189304A>T	CA387461487	GJB2	c.278T>A (p.Met93Lys)
13	g.20189305T>A	CA387461490	GJB2	c.277A>T (p.Met93Leu)
13	g.20189305T>C	CA387461491	GJB2	c.277A>G (p.Met93Val)	ClinVar gnomAD v4
13	g.20189305T>G	CA387461492	GJB2	c.277A>C (p.Met93Leu)	ClinVar
13	g.20189306G>A	CA483153757	GJB2	c.276C>T (p.Ala92=)	ClinVar dbSNP gnomAD v4
13	g.20189306G>C	CA483153758	GJB2	c.276C>G (p.Ala92=)
13	g.20189306G=	CA2077139681	GJB2	c.276C= (p.Ala92=)
13	g.20189306G>T	CA483153759	GJB2	c.276C>A (p.Ala92=)
13	g.20189307G>A	CA387461493	GJB2	c.275C>T (p.Ala92Val)	ClinVar dbSNP
13	g.20189307G>C	CA387461494	GJB2	c.275C>G (p.Ala92Gly)	dbSNP gnomAD v4
13	g.20189307G=	CA2077139682	GJB2	c.275C= (p.Ala92=)
13	g.20189307G>T	CA387461495	GJB2	c.275C>A (p.Ala92Asp)
13	g.20189308C>A	CA387461496	GJB2	c.274G>T (p.Ala92Ser)
13	g.20189308C>G	CA387461497	GJB2	c.274G>C (p.Ala92Pro)
13	g.20189308C>T	CA387461498	GJB2	c.274G>A (p.Ala92Thr)
13	g.20189309C>A	CA483153762	GJB2	c.273G>T (p.Val91=)
13	g.20189309C>G	CA483153761	GJB2	c.273G>C (p.Val91=)
13	g.20189309C>T	CA483153760	GJB2	c.273G>A (p.Val91=)
13	g.20189310A>C	CA387461499	GJB2	c.272T>G (p.Val91Gly)	gnomAD v4
13	g.20189310A>G	CA387461500	GJB2	c.272T>C (p.Val91Ala)
13	g.20189310A>T	CA387461501	GJB2	c.272T>A (p.Val91Glu)
13	g.20189311C>A	CA387461504	GJB2	c.271G>T (p.Val91Leu)
13	g.20189311C=	CA2077139686	GJB2	c.271G= (p.Val91=)
13	g.20189311C>G	CA387461503	GJB2	c.271G>C (p.Val91Leu)	gnomAD v4
13	g.20189311C>T	CA387461502	GJB2	c.271G>A (p.Val91Met)	dbSNP gnomAD v3 gnomAD v4
13	g.20189312T>A	CA483153763	GJB2	c.270A>T (p.Leu90=)
13	g.20189312T>C	CA483153764	GJB2	c.270A>G (p.Leu90=)	dbSNP gnomAD v4
13	g.20189312T>G	CA483153765	GJB2	c.270A>C (p.Leu90=)
13	g.20189312T=	CA2077139689	GJB2	c.270A= (p.Leu90=)
13	g.20189313del	CA2695217711	GJB2	c.269del (p.Leu90GlnfsTer22)
13	g.20189313A=	CA2077139698	GJB2	c.269T= (p.Leu90=)
13	g.20189313A>C	CA387461505	GJB2	c.269T>G (p.Leu90Arg)
13	g.20189313A>G	CA172219	GJB2	c.269T>C (p.Leu90Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189313A>T	CA387461506	GJB2	c.269T>A (p.Leu90Gln)
13	g.20189313dup	CA273448	GJB2	c.269dup (p.Val91SerfsTer11)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189315_20189336del	CA2622252297	GJB2	c.248_269del (p.Phe83Ter)	gnomAD v4
13	g.20189314G>A	CA483153766	GJB2	c.268C>T (p.Leu90=)	ClinVar dbSNP gnomAD v4 COSMIC
13	g.20189314G>C	CA387461507	GJB2	c.268C>G (p.Leu90Val)
13	g.20189314G=	CA2077139706	GJB2	c.268C= (p.Leu90=)
13	g.20189314G>T	CA387461508	GJB2	c.268C>A (p.Leu90Ile)
13	g.20189315del	CA2499221953	GJB2	c.268del (p.Leu90Ter)	ClinVar dbSNP
13	g.20189315G>A	CA483153767	GJB2	c.267C>T (p.Leu89=)	dbSNP gnomAD v4
13	g.20189315G>C	CA176160	GJB2	c.267C>G (p.Leu89=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189315G=	CA2077139709	GJB2	c.267C= (p.Leu89=)
13	g.20189315G>T	CA483153768	GJB2	c.267C>A (p.Leu89=)	ClinVar
13	g.20189316A=	CA2077139714	GJB2	c.266T= (p.Leu89=)
13	g.20189316A>C	CA387461509	GJB2	c.266T>G (p.Leu89Arg)
13	g.20189316A>G	CA387461510	GJB2	c.266T>C (p.Leu89Pro)	ClinVar dbSNP
13	g.20189316A>T	CA387461511	GJB2	c.266T>A (p.Leu89His)	dbSNP gnomAD v4
13	g.20189317G>A	CA6904293	GJB2	c.265C>T (p.Leu89Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189317G>C	CA387461512	GJB2	c.265C>G (p.Leu89Val)
13	g.20189317G=	CA2077139717	GJB2	c.265C= (p.Leu89=)
13	g.20189317G>T	CA387461513	GJB2	c.265C>A (p.Leu89Ile)
13	g.20189318C>A	CA483153769	GJB2	c.264G>T (p.Ala88=)
13	g.20189318C=	CA2077139720	GJB2	c.264G= (p.Ala88=)
13	g.20189318C>G	CA6904295	GJB2	c.264G>C (p.Ala88=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189318C>T	CA6904294	GJB2	c.264G>A (p.Ala88=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189319G>A	CA387461514	GJB2	c.263C>T (p.Ala88Val)	ClinVar dbSNP
13	g.20189319G>C	CA387461516	GJB2	c.263C>G (p.Ala88Gly)	ClinVar dbSNP
13	g.20189319G=	CA2077139726	GJB2	c.263C= (p.Ala88=)
13	g.20189319G>T	CA387461515	GJB2	c.263C>A (p.Ala88Glu)	ClinVar dbSNP
13	g.20189320C>A	CA387461517	GJB2	c.262G>T (p.Ala88Ser)	gnomAD v4
13	g.20189320C=	CA2077139729	GJB2	c.262G= (p.Ala88=)
13	g.20189320C>G	CA387461518	GJB2	c.262G>C (p.Ala88Pro)
13	g.20189320C>T	CA387461519	GJB2	c.262G>A (p.Ala88Thr)	dbSNP gnomAD v3 gnomAD v4
13	g.20189321T>A	CA483153770	GJB2	c.261A>T (p.Pro87=)
13	g.20189321T>C	CA483153771	GJB2	c.261A>G (p.Pro87=)
13	g.20189321T>G	CA483153772	GJB2	c.261A>C (p.Pro87=)
13	g.20189322G>A	CA387461520	GJB2	c.260C>T (p.Pro87Leu)	ClinVar dbSNP
13	g.20189322G>C	CA387461521	GJB2	c.260C>G (p.Pro87Arg)
13	g.20189322G=	CA2077139733	GJB2	c.260C= (p.Pro87=)
13	g.20189322G>T	CA387461522	GJB2	c.260C>A (p.Pro87Gln)
13	g.20189323_20189325del	CA2695217712	GJB2	c.258_260del (p.Pro87del)
13	g.20189323G>A	CA387461523	GJB2	c.259C>T (p.Pro87Ser)
13	g.20189323G>C	CA387461524	GJB2	c.259C>G (p.Pro87Ala)
13	g.20189323G>T	CA387461525	GJB2	c.259C>A (p.Pro87Thr)
13	g.20189324_20189325del	CA912980096	GJB2	c.258_259del (p.Pro87SerfsTer14)
13	g.20189324C>A	CA246460540	GJB2	c.258G>T (p.Thr86=)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
13	g.20189324C=	CA2077139735	GJB2	c.258G= (p.Thr86=)
13	g.20189324C>G	CA483153773	GJB2	c.258G>C (p.Thr86=)
13	g.20189324C>T	CA6904296	GJB2	c.258G>A (p.Thr86=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189324_20189325delinsCG	CA2077139737	GJB2	c.257_258delinsCG (p.Thr86=)
13	g.20189325del	CA658823467	GJB2	c.257del (p.Thr86SerfsTer5)	ClinVar dbSNP
13	g.20189325G>A	CA387461528	GJB2	c.257C>T (p.Thr86Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189325G>C	CA387461527	GJB2	c.257C>G (p.Thr86Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189325G=	CA2077139745	GJB2	c.257C= (p.Thr86=)
13	g.20189325G>T	CA387461526	GJB2	c.257C>A (p.Thr86Lys)
13	g.20189326T>A	CA387461529	GJB2	c.256A>T (p.Thr86Ser)
13	g.20189326T>C	CA387461530	GJB2	c.256A>G (p.Thr86Ala)	ClinVar
13	g.20189326T>G	CA387461531	GJB2	c.256A>C (p.Thr86Pro)
13	g.20189327G>A	CA483153774	GJB2	c.255C>T (p.Ser85=)	ClinVar
13	g.20189327G>C	CA483153775	GJB2	c.255C>G (p.Ser85=)
13	g.20189327G>T	CA483153776	GJB2	c.255C>A (p.Ser85=)
13	g.20189328G>A	CA387461532	GJB2	c.254C>T (p.Ser85Phe)	COSMIC
13	g.20189328G>C	CA387461533	GJB2	c.254C>G (p.Ser85Cys)
13	g.20189328G>T	CA387461534	GJB2	c.254C>A (p.Ser85Tyr)
13	g.20189329A>C	CA387461535	GJB2	c.253T>G (p.Ser85Ala)	gnomAD v4
13	g.20189329A>G	CA387461536	GJB2	c.253T>C (p.Ser85Pro)	gnomAD v4
13	g.20189329A>T	CA387461537	GJB2	c.253T>A (p.Ser85Thr)	gnomAD v4
13	g.20189330C>A	CA483153777	GJB2	c.252G>T (p.Val84=)
13	g.20189330C>G	CA483153778	GJB2	c.252G>C (p.Val84=)
13	g.20189330C>T	CA483153779	GJB2	c.252G>A (p.Val84=)	ClinVar
13	g.20189331A>C	CA387461538	GJB2	c.251T>G (p.Val84Gly)
13	g.20189331A>G	CA387461539	GJB2	c.251T>C (p.Val84Ala)	ClinVar gnomAD v4
13	g.20189331A>T	CA387461540	GJB2	c.251T>A (p.Val84Glu)
13	g.20189332C>A	CA234087	GJB2	c.250G>T (p.Val84Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189332C=	CA2077139759	GJB2	c.250G= (p.Val84=)
13	g.20189332C>G	CA172218	GJB2	c.250G>C (p.Val84Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189332C>T	CA257683	GJB2	c.250G>A (p.Val84Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189333G>A	CA6904297	GJB2	c.249C>T (p.Phe83=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13	g.20189333G>C	CA134955	GJB2	c.249C>G (p.Phe83Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189333G=	CA2077139768	GJB2	c.249C= (p.Phe83=)
13	g.20189333G>T	CA387461541	GJB2	c.249C>A (p.Phe83Leu)
13	g.20189335_20189337del	CA2573053787	GJB2	c.247_249del (p.Phe83del)	ClinVar dbSNP
13	g.20189334A>C	CA387461542	GJB2	c.248T>G (p.Phe83Cys)
13	g.20189334A>G	CA387461543	GJB2	c.248T>C (p.Phe83Ser)
13	g.20189334A>T	CA387461544	GJB2	c.248T>A (p.Phe83Tyr)
13	g.20189335A>C	CA387461545	GJB2	c.247T>G (p.Phe83Val)
13	g.20189335A>G	CA387461546	GJB2	c.247T>C (p.Phe83Leu)
13	g.20189335A>T	CA387461547	GJB2	c.247T>A (p.Phe83Ile)
13	g.20189336G>A	CA483153780	GJB2	c.246C>T (p.Ile82=)
13	g.20189336G>C	CA273919	GJB2	c.246C>G (p.Ile82Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189336G=	CA2077139777	GJB2	c.246C= (p.Ile82=)
13	g.20189336G>T	CA483153781	GJB2	c.246C>A (p.Ile82=)
13	g.20189337A>C	CA387461548	GJB2	c.245T>G (p.Ile82Ser)
13	g.20189337A>G	CA387461549	GJB2	c.245T>C (p.Ile82Thr)	gnomAD v4
13	g.20189337A>T	CA387461550	GJB2	c.245T>A (p.Ile82Asn)
13	g.20189338T>A	CA387461553	GJB2	c.244A>T (p.Ile82Phe)
13	g.20189338T>C	CA387461552	GJB2	c.244A>G (p.Ile82Val)	ClinVar dbSNP
13	g.20189338T>G	CA387461551	GJB2	c.244A>C (p.Ile82Leu)
13	g.20189338T=	CA2077139782	GJB2	c.244A= (p.Ile82=)
13	g.20189339C>A	CA483153782	GJB2	c.243G>T (p.Leu81=)
13	g.20189339C=	CA2077139787	GJB2	c.243G= (p.Leu81=)
13	g.20189339C>G	CA483153783	GJB2	c.243G>C (p.Leu81=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189339C>T	CA483153784	GJB2	c.243G>A (p.Leu81=)	ClinVar
13	g.20189340A=	CA2077139790	GJB2	c.242T= (p.Leu81=)
13	g.20189340A>C	CA387461554	GJB2	c.242T>G (p.Leu81Arg)
13	g.20189340A>G	CA387461555	GJB2	c.242T>C (p.Leu81Pro)	dbSNP gnomAD v3 gnomAD v4
13	g.20189340A>T	CA387461556	GJB2	c.242T>A (p.Leu81Gln)
13	g.20189341G>A	CA6904299	GJB2	c.241C>T (p.Leu81=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189341G>C	CA6904298	GJB2	c.241C>G (p.Leu81Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189341G=	CA2077139795	GJB2	c.241C= (p.Leu81=)
13	g.20189341G>T	CA387461557	GJB2	c.241C>A (p.Leu81Met)
13	g.20189342C>A	CA387461558	GJB2	c.240G>T (p.Gln80His)
13	g.20189342C=	CA2077139802	GJB2	c.240G= (p.Gln80=)
13	g.20189342C>G	CA387461559	GJB2	c.240G>C (p.Gln80His)
13	g.20189342C>T	CA483153785	GJB2	c.240G>A (p.Gln80=)
13	g.20189342dup	CA912980097	GJB2	c.240dup (p.Leu81AlafsTer21)
13	g.20189343T>A	CA387461560	GJB2	c.239A>T (p.Gln80Leu)
13	g.20189343T>C	CA387461561	GJB2	c.239A>G (p.Gln80Arg)	ClinVar
13	g.20189343T>G	CA273446	GJB2	c.239A>C (p.Gln80Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189343T=	CA2077139891	GJB2	c.239A= (p.Gln80=)
13	g.20189343dup	CA658823472	GJB2	c.239dup (p.Leu81AlafsTer21)	ClinVar dbSNP gnomAD v4
13	g.20189343_20189346delinsCGGATCT	CA2695217713	GJB2	c.236_239delinsAGATCCG (p.Leu79_Gln80delinsGlnIleArg)
13	g.20189344G>A	CA6904300	GJB2	c.238C>T (p.Gln80Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189344G>C	CA387461562	GJB2	c.238C>G (p.Gln80Glu)
13	g.20189344G=	CA2077139898	GJB2	c.238C= (p.Gln80=)
13	g.20189344G>T	CA387461563	GJB2	c.238C>A (p.Gln80Lys)	ClinVar dbSNP gnomAD v4
13	g.20189345C>A	CA483153786	GJB2	c.237G>T (p.Leu79=)
13	g.20189345C>G	CA483153787	GJB2	c.237G>C (p.Leu79=)	ClinVar
13	g.20189345C>T	CA483153788	GJB2	c.237G>A (p.Leu79=)	gnomAD v4 COSMIC
13	g.20189346A=	CA2077139904	GJB2	c.236T= (p.Leu79=)
13	g.20189346A>C	CA387461565	GJB2	c.236T>G (p.Leu79Arg)	dbSNP gnomAD v2 gnomAD v4
13	g.20189346A>G	CA387461566	GJB2	c.236T>C (p.Leu79Pro)	ClinVar dbSNP gnomAD v4
13	g.20189346A>T	CA387461564	GJB2	c.236T>A (p.Leu79Gln)
13	g.20189346_20189347delinsAG	CA2077139903	GJB2	c.235_236delinsCT (p.Leu79=)
13	g.20189347G>A	CA483153789	GJB2	c.235C>T (p.Leu79=)
13	g.20189347G>C	CA387461568	GJB2	c.235C>G (p.Leu79Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189347G=	CA2077139914	GJB2	c.235C= (p.Leu79=)
13	g.20189347G>T	CA387461567	GJB2	c.235C>A (p.Leu79Met)
13	g.20189349dup	CA912980098	GJB2	c.235dup (p.Leu79ProfsTer23)
13	g.20189349del	CA127025	GJB2	c.235del (p.Leu79CysfsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189348G>A	CA483153792	GJB2	c.234C>T (p.Ala78=)	gnomAD v4
13	g.20189348G>C	CA483153790	GJB2	c.234C>G (p.Ala78=)
13	g.20189348G>T	CA483153791	GJB2	c.234C>A (p.Ala78=)
13	g.20189349G>A	CA387461569	GJB2	c.233C>T (p.Ala78Val)	dbSNP gnomAD v2 gnomAD v4
13	g.20189349G>C	CA387461570	GJB2	c.233C>G (p.Ala78Gly)
13	g.20189349G=	CA2077139917	GJB2	c.233C= (p.Ala78=)
13	g.20189349G>T	CA387461571	GJB2	c.233C>A (p.Ala78Asp)	ClinVar dbSNP
13	g.20189350C>A	CA387461572	GJB2	c.232G>T (p.Ala78Ser)	ClinVar dbSNP gnomAD v4
13	g.20189350C=	CA2077139924	GJB2	c.232G= (p.Ala78=)
13	g.20189350C>G	CA387461573	GJB2	c.232G>C (p.Ala78Pro)
13	g.20189350C>T	CA387461574	GJB2	c.232G>A (p.Ala78Thr)	ClinVar dbSNP
13	g.20189352dup	CA658823475	GJB2	c.232dup (p.Ala78GlyfsTer24)	ClinVar dbSNP
13	g.20189351C>A	CA387461575	GJB2	c.231G>T (p.Trp77Cys)
13	g.20189351C=	CA2077139933	GJB2	c.231G= (p.Trp77=)
13	g.20189351C>G	CA387461576	GJB2	c.231G>C (p.Trp77Cys)
13	g.20189351C>T	CA341437	GJB2	c.231G>A (p.Trp77Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189352C>A	CA387461577	GJB2	c.230G>T (p.Trp77Leu)
13	g.20189352C=	CA2077139937	GJB2	c.230G= (p.Trp77=)
13	g.20189352C>G	CA387461578	GJB2	c.230G>C (p.Trp77Ser)
13	g.20189352C>T	CA274460	GJB2	c.230G>A (p.Trp77Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189353A=	CA2077139941	GJB2	c.229T= (p.Trp77=)
13	g.20189353A>C	CA387461580	GJB2	c.229T>G (p.Trp77Gly)
13	g.20189353A>G	CA222246	GJB2	c.229T>C (p.Trp77Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189353A>T	CA387461579	GJB2	c.229T>A (p.Trp77Arg)
13	g.20189354T>A	CA483153793	GJB2	c.228A>T (p.Leu76=)
13	g.20189354T>C	CA483153794	GJB2	c.228A>G (p.Leu76=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189354T>G	CA483153795	GJB2	c.228A>C (p.Leu76=)
13	g.20189354T=	CA2077139944	GJB2	c.228A= (p.Leu76=)
13	g.20189355A=	CA2077139948	GJB2	c.227T= (p.Leu76=)
13	g.20189355A>C	CA387461581	GJB2	c.227T>G (p.Leu76Arg)
13	g.20189355A>G	CA134953	GJB2	c.227T>C (p.Leu76Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189355A>T	CA387461582	GJB2	c.227T>A (p.Leu76Gln)
13	g.20189356G>A	CA483153796	GJB2	c.226C>T (p.Leu76=)
13	g.20189356G>C	CA387461583	GJB2	c.226C>G (p.Leu76Val)	ClinVar dbSNP
13	g.20189356G=	CA2077139952	GJB2	c.226C= (p.Leu76=)
13	g.20189356G>T	CA387461584	GJB2	c.226C>A (p.Leu76Ile)	gnomAD v4
13	g.20189357C>A	CA6904301	GJB2	c.225G>T (p.Arg75=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189357C=	CA2077139954	GJB2	c.225G= (p.Arg75=)
13	g.20189357C>G	CA483153798	GJB2	c.225G>C (p.Arg75=)
13	g.20189357C>T	CA483153797	GJB2	c.225G>A (p.Arg75=)
13	g.20189358C>A	CA387461585	GJB2	c.224G>T (p.Arg75Leu)
13	g.20189358C=	CA2077139956	GJB2	c.224G= (p.Arg75=)
13	g.20189358C>G	CA387461586	GJB2	c.224G>C (p.Arg75Pro)
13	g.20189358C>T	CA127030	GJB2	c.224G>A (p.Arg75Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189359G>A	CA257676	GJB2	c.223C>T (p.Arg75Trp)	ClinVar dbSNP
13	g.20189359G>C	CA387461587	GJB2	c.223C>G (p.Arg75Gly)	ClinVar dbSNP
13	g.20189359G=	CA2077139961	GJB2	c.223C= (p.Arg75=)
13	g.20189359G>T	CA483153799	GJB2	c.223C>A (p.Arg75=)
13	g.20189360G>A	CA483153800	GJB2	c.222C>T (p.Ile74=)
13	g.20189360G>C	CA387461588	GJB2	c.222C>G (p.Ile74Met)
13	g.20189360G>T	CA483153801	GJB2	c.222C>A (p.Ile74=)
13	g.20189361A=	CA2077139966	GJB2	c.221T= (p.Ile74=)
13	g.20189361A>C	CA387461591	GJB2	c.221T>G (p.Ile74Ser)
13	g.20189361A>G	CA387461590	GJB2	c.221T>C (p.Ile74Thr)	ClinVar dbSNP COSMIC
13	g.20189361A>T	CA387461589	GJB2	c.221T>A (p.Ile74Asn)
13	g.20189362T>A	CA387461592	GJB2	c.220A>T (p.Ile74Phe)
13	g.20189362T>C	CA387461593	GJB2	c.220A>G (p.Ile74Val)	dbSNP gnomAD v3 gnomAD v4
13	g.20189362T>G	CA387461594	GJB2	c.220A>C (p.Ile74Leu)
13	g.20189362T=	CA2077139968	GJB2	c.220A= (p.Ile74=)
13	g.20189363G>A	CA184094	GJB2	c.219C>T (p.His73=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189363G>C	CA387461595	GJB2	c.219C>G (p.His73Gln)
13	g.20189363G=	CA2077139972	GJB2	c.219C= (p.His73=)
13	g.20189363G>T	CA387461596	GJB2	c.219C>A (p.His73Gln)

Number of alleles fetched