Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
13	g.20189364T>A	CA387461597	GJB2	c.218A>T (p.His73Leu)
13	g.20189364T>C	CA127036	GJB2	c.218A>G (p.His73Arg)	ClinVar dbSNP
13	g.20189364T>G	CA387461598	GJB2	c.218A>C (p.His73Pro)
13	g.20189364T=	CA2077139977	GJB2	c.218A= (p.His73=)
13	g.20189364dup	CA2622252303	GJB2	c.218dup (p.His73GlnfsTer29)	gnomAD v4
13	g.20189365G>A	CA387461599	GJB2	c.217C>T (p.His73Tyr)	dbSNP gnomAD v4
13	g.20189365G>C	CA387461600	GJB2	c.217C>G (p.His73Asp)
13	g.20189365G=	CA2077139982	GJB2	c.217C= (p.His73=)
13	g.20189365G>T	CA387461601	GJB2	c.217C>A (p.His73Asn)	gnomAD v4
13	g.20189365_20189366insCTAT	CA608984145	GJB2	c.216_217insATAG (p.His73IlefsTer30)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189366G>A	CA483153802	GJB2	c.216C>T (p.Ser72=)
13	g.20189366G>C	CA483153803	GJB2	c.216C>G (p.Ser72=)
13	g.20189366G>T	CA483153804	GJB2	c.216C>A (p.Ser72=)
13	g.20189367G>A	CA387461604	GJB2	c.215C>T (p.Ser72Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189367G>C	CA387461603	GJB2	c.215C>G (p.Ser72Cys)
13	g.20189367G=	CA2077139988	GJB2	c.215C= (p.Ser72=)
13	g.20189367G>T	CA387461602	GJB2	c.215C>A (p.Ser72Tyr)
13	g.20189368A>C	CA387461605	GJB2	c.214T>G (p.Ser72Ala)
13	g.20189368A>G	CA387461606	GJB2	c.214T>C (p.Ser72Pro)
13	g.20189368A>T	CA387461607	GJB2	c.214T>A (p.Ser72Thr)
13	g.20189369G>A	CA483153805	GJB2	c.213C>T (p.Ile71=)	COSMIC
13	g.20189369G>C	CA387461608	GJB2	c.213C>G (p.Ile71Met)
13	g.20189369G>T	CA483153806	GJB2	c.213C>A (p.Ile71=)
13	g.20189370A=	CA2077139991	GJB2	c.212T= (p.Ile71=)
13	g.20189370A>C	CA387461609	GJB2	c.212T>G (p.Ile71Ser)
13	g.20189370A>G	CA387461610	GJB2	c.212T>C (p.Ile71Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189370A>T	CA387461611	GJB2	c.212T>A (p.Ile71Asn)	gnomAD v3 gnomAD v4
13	g.20189371_20189377dup	CA2695217715	GJB2	c.206_212dup (p.Ser72ProfsTer32)	ClinVar
13	g.20189371T>A	CA387461612	GJB2	c.211A>T (p.Ile71Phe)
13	g.20189371T>C	CA387461613	GJB2	c.211A>G (p.Ile71Val)
13	g.20189371T>G	CA387461614	GJB2	c.211A>C (p.Ile71Leu)
13	g.20189372G>A	CA483153807	GJB2	c.210C>T (p.Pro70=)	gnomAD v4
13	g.20189372G>C	CA483153808	GJB2	c.210C>G (p.Pro70=)
13	g.20189372G>T	CA483153809	GJB2	c.210C>A (p.Pro70=)
13	g.20189375del	CA2542172164	GJB2	c.210del (p.Ile71SerfsTer11)
13	g.20189373G>A	CA387461615	GJB2	c.209C>T (p.Pro70Leu)
13	g.20189373G>C	CA387461616	GJB2	c.209C>G (p.Pro70Arg)	gnomAD v4
13	g.20189373G>T	CA387461617	GJB2	c.209C>A (p.Pro70His)
13	g.20189373_20189374insCATGAGAATCGTTTGAACCTAGGAGGC	CA953781931	GJB2	c.208_209insGCCTCCTAGGTTCAAACGATTCTCATG (p.Pro70delinsArgLeuLeuGlySerAsnAspSerHisAla)	gnomAD v3 gnomAD v4
13	g.20189374G>A	CA387461619	GJB2	c.208C>T (p.Pro70Ser)	COSMIC
13	g.20189374G>C	CA273831	GJB2	c.208C>G (p.Pro70Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189374G=	CA2077139993	GJB2	c.208C= (p.Pro70=)
13	g.20189374G>T	CA387461618	GJB2	c.208C>A (p.Pro70Thr)
13	g.20189375G>A	CA483153810	GJB2	c.207C>T (p.Phe69=)	ClinVar
13	g.20189375G>C	CA387461621	GJB2	c.207C>G (p.Phe69Leu)	ClinVar
13	g.20189375G>T	CA387461620	GJB2	c.207C>A (p.Phe69Leu)
13	g.20189376A>C	CA387461624	GJB2	c.206T>G (p.Phe69Cys)
13	g.20189376A>G	CA387461622	GJB2	c.206T>C (p.Phe69Ser)	ClinVar
13	g.20189376A>T	CA387461623	GJB2	c.206T>A (p.Phe69Tyr)
13	g.20189377A=	CA2077139995	GJB2	c.205T= (p.Phe69=)
13	g.20189377A>C	CA387461625	GJB2	c.205T>G (p.Phe69Val)
13	g.20189377A>G	CA387461626	GJB2	c.205T>C (p.Phe69Leu)	ClinVar dbSNP
13	g.20189377A>T	CA387461627	GJB2	c.205T>A (p.Phe69Ile)
13	g.20189378G>A	CA483153811	GJB2	c.204C>T (p.Tyr68=)
13	g.20189378G>C	CA6904302	GJB2	c.204C>G (p.Tyr68Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189378G=	CA2077139997	GJB2	c.204C= (p.Tyr68=)
13	g.20189378G>T	CA387461628	GJB2	c.204C>A (p.Tyr68Ter)	gnomAD v4
13	g.20189379T>A	CA387461629	GJB2	c.203A>T (p.Tyr68Phe)
13	g.20189379T>C	CA134951	GJB2	c.203A>G (p.Tyr68Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189379T>G	CA387461630	GJB2	c.203A>C (p.Tyr68Ser)
13	g.20189379T=	CA2077140005	GJB2	c.203A= (p.Tyr68=)
13	g.20189380A>C	CA387461631	GJB2	c.202T>G (p.Tyr68Asp)
13	g.20189380A>G	CA387461632	GJB2	c.202T>C (p.Tyr68His)
13	g.20189380A>T	CA387461633	GJB2	c.202T>A (p.Tyr68Asn)
13	g.20189381G>A	CA483153819	GJB2	c.201C>T (p.His67=)	dbSNP gnomAD v2 gnomAD v4
13	g.20189381G>C	CA387461634	GJB2	c.201C>G (p.His67Gln)
13	g.20189381G=	CA2077140008	GJB2	c.201C= (p.His67=)
13	g.20189381G>T	CA387461635	GJB2	c.201C>A (p.His67Gln)
13	g.20189382T>A	CA387461636	GJB2	c.200A>T (p.His67Leu)	gnomAD v4
13	g.20189382T>C	CA6904303	GJB2	c.200A>G (p.His67Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189382T>G	CA387461637	GJB2	c.200A>C (p.His67Pro)
13	g.20189382T=	CA2077140012	GJB2	c.200A= (p.His67=)
13	g.20189382dup	CA2499221954	GJB2	c.200dup (p.His67GlnfsTer?)	ClinVar dbSNP gnomAD v4
13	g.20189383G>A	CA387461638	GJB2	c.199C>T (p.His67Tyr)
13	g.20189383G>C	CA387461639	GJB2	c.199C>G (p.His67Asp)
13	g.20189383G>T	CA387461640	GJB2	c.199C>A (p.His67Asn)
13	g.20189384A=	CA2077140014	GJB2	c.198T= (p.Asp66=)
13	g.20189384A>C	CA387461641	GJB2	c.198T>G (p.Asp66Glu)
13	g.20189384A>G	CA483153820	GJB2	c.198T>C (p.Asp66=)	dbSNP gnomAD v3 gnomAD v4
13	g.20189384A>T	CA387461642	GJB2	c.198T>A (p.Asp66Glu)
13	g.20189385T>A	CA387461643	GJB2	c.197A>T (p.Asp66Val)
13	g.20189385T>C	CA387461644	GJB2	c.197A>G (p.Asp66Gly)
13	g.20189385T>G	CA387461645	GJB2	c.197A>C (p.Asp66Ala)
13	g.20189386C>A	CA387461647	GJB2	c.196G>T (p.Asp66Tyr)	ClinVar dbSNP
13	g.20189386C=	CA2077140020	GJB2	c.196G= (p.Asp66=)
13	g.20189386C>G	CA127024	GJB2	c.196G>C (p.Asp66His)	ClinVar dbSNP
13	g.20189386C>T	CA387461646	GJB2	c.196G>A (p.Asp66Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189387G>A	CA6904304	GJB2	c.195C>T (p.Tyr65=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189387G>C	CA387461648	GJB2	c.195C>G (p.Tyr65Ter)	ClinVar dbSNP gnomAD v4
13	g.20189387G=	CA2077140027	GJB2	c.195C= (p.Tyr65=)
13	g.20189387G>T	CA387461649	GJB2	c.195C>A (p.Tyr65Ter)	ClinVar dbSNP gnomAD v4
13	g.20189388T>A	CA387461650	GJB2	c.194A>T (p.Tyr65Phe)
13	g.20189388T>C	CA261639	GJB2	c.194A>G (p.Tyr65Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189388T>G	CA387461651	GJB2	c.194A>C (p.Tyr65Ser)
13	g.20189388T=	CA2077140033	GJB2	c.194A= (p.Tyr65=)
13	g.20189389A=	CA2077140037	GJB2	c.193T= (p.Tyr65=)
13	g.20189389A>C	CA387461652	GJB2	c.193T>G (p.Tyr65Asp)
13	g.20189389A>G	CA10586212	GJB2	c.193T>C (p.Tyr65His)	ClinVar dbSNP
13	g.20189389A>T	CA387461653	GJB2	c.193T>A (p.Tyr65Asn)
13	g.20189390G>A	CA483153826	GJB2	c.192C>T (p.Cys64=)
13	g.20189390G>C	CA387461654	GJB2	c.192C>G (p.Cys64Trp)
13	g.20189390G>T	CA387461655	GJB2	c.192C>A (p.Cys64Ter)
13	g.20189390_20189406delinsGCACACGTTCTTGCAGC	CA2077140040	GJB2	c.176_192delinsGCTGCAAGAACGTGTGC (p.Gly59=)
13	g.20189391C>A	CA387461657	GJB2	c.191G>T (p.Cys64Phe)
13	g.20189391C>G	CA387461658	GJB2	c.191G>C (p.Cys64Ser)
13	g.20189391C>T	CA387461656	GJB2	c.191G>A (p.Cys64Tyr)	ClinVar gnomAD v4
13	g.20189392_20189407del	CA6904305	GJB2	c.176_191del (p.Gly59AlafsTer18)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189392A>C	CA387461659	GJB2	c.190T>G (p.Cys64Gly)
13	g.20189392A>G	CA387461660	GJB2	c.190T>C (p.Cys64Arg)
13	g.20189392A>T	CA387461661	GJB2	c.190T>A (p.Cys64Ser)
13	g.20189393C>A	CA483153830	GJB2	c.189G>T (p.Val63=)	ClinVar dbSNP
13	g.20189393C=	CA2077140046	GJB2	c.189G= (p.Val63=)
13	g.20189393C>G	CA483153828	GJB2	c.189G>C (p.Val63=)
13	g.20189393C>T	CA483153829	GJB2	c.189G>A (p.Val63=)
13	g.20189394A=	CA2077140050	GJB2	c.188T= (p.Val63=)
13	g.20189394A>C	CA387461662	GJB2	c.188T>G (p.Val63Gly)
13	g.20189394A>G	CA180700	GJB2	c.188T>C (p.Val63Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189394A>T	CA387461663	GJB2	c.188T>A (p.Val63Glu)
13	g.20189395del	CA2695217716	GJB2	c.187del (p.Val63CysfsTer19)
13	g.20189395C>A	CA6904306	GJB2	c.187G>T (p.Val63Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189395C=	CA2077140055	GJB2	c.187G= (p.Val63=)
13	g.20189395C>G	CA387461664	GJB2	c.187G>C (p.Val63Leu)	ClinVar
13	g.20189395C>T	CA222244	GJB2	c.187G>A (p.Val63Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189396G>A	CA134949	GJB2	c.186C>T (p.Asn62=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189396G>C	CA387461665	GJB2	c.186C>G (p.Asn62Lys)
13	g.20189396G=	CA2077140061	GJB2	c.186C= (p.Asn62=)
13	g.20189396G>T	CA387461666	GJB2	c.186C>A (p.Asn62Lys)	dbSNP gnomAD v3 gnomAD v4
13	g.20189397T>A	CA387461667	GJB2	c.185A>T (p.Asn62Ile)
13	g.20189397T>C	CA387461668	GJB2	c.185A>G (p.Asn62Ser)	dbSNP gnomAD v2 gnomAD v4
13	g.20189397T>G	CA387461669	GJB2	c.185A>C (p.Asn62Thr)
13	g.20189397T=	CA2077140069	GJB2	c.185A= (p.Asn62=)
13	g.20189397_20189398insA	CA2695217717	GJB2	c.184_185insT (p.Asn62IlefsTer?)
13	g.20189398T>A	CA387461671	GJB2	c.184A>T (p.Asn62Tyr)
13	g.20189398T>C	CA387461672	GJB2	c.184A>G (p.Asn62Asp)
13	g.20189398T>G	CA387461670	GJB2	c.184A>C (p.Asn62His)
13	g.20189399C>A	CA387461673	GJB2	c.183G>T (p.Lys61Asn)
13	g.20189399C=	CA2077140073	GJB2	c.183G= (p.Lys61=)
13	g.20189399C>G	CA387461675	GJB2	c.183G>C (p.Lys61Asn)
13	g.20189399C>T	CA6904307	GJB2	c.183G>A (p.Lys61=)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189400T>A	CA387461677	GJB2	c.182A>T (p.Lys61Met)
13	g.20189400T>C	CA387461679	GJB2	c.182A>G (p.Lys61Arg)
13	g.20189400T>G	CA387461680	GJB2	c.182A>C (p.Lys61Thr)
13	g.20189401T>A	CA387461681	GJB2	c.181A>T (p.Lys61Ter)
13	g.20189401T>C	CA387461683	GJB2	c.181A>G (p.Lys61Glu)
13	g.20189401T>G	CA387461685	GJB2	c.181A>C (p.Lys61Gln)
13	g.20189402G>A	CA483153833	GJB2	c.180C>T (p.Cys60=)
13	g.20189402G>C	CA387461687	GJB2	c.180C>G (p.Cys60Trp)
13	g.20189402G>T	CA387461688	GJB2	c.180C>A (p.Cys60Ter)
13	g.20189403C>A	CA387461690	GJB2	c.179G>T (p.Cys60Phe)	dbSNP
13	g.20189403C=	CA2077140077	GJB2	c.179G= (p.Cys60=)
13	g.20189403C>G	CA387461692	GJB2	c.179G>C (p.Cys60Ser)
13	g.20189403C>T	CA387461694	GJB2	c.179G>A (p.Cys60Tyr)	gnomAD v4 COSMIC
13	g.20189404A=	CA2077140079	GJB2	c.178T= (p.Cys60=)
13	g.20189404A>C	CA387461695	GJB2	c.178T>G (p.Cys60Gly)	ClinVar
13	g.20189404A>G	CA246460715	GJB2	c.178T>C (p.Cys60Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189404A>T	CA387461696	GJB2	c.178T>A (p.Cys60Ser)
13	g.20189405G>A	CA6904308	GJB2	c.177C>T (p.Gly59=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189405G>C	CA483153835	GJB2	c.177C>G (p.Gly59=)
13	g.20189405G=	CA2077140084	GJB2	c.177C= (p.Gly59=)
13	g.20189405G>T	CA483153836	GJB2	c.177C>A (p.Gly59=)
13	g.20189406C>A	CA387461699	GJB2	c.176G>T (p.Gly59Val)	ClinVar dbSNP
13	g.20189406C=	CA2077140093	GJB2	c.176G= (p.Gly59=)
13	g.20189406C>G	CA127026	GJB2	c.176G>C (p.Gly59Ala)	ClinVar dbSNP gnomAD v4
13	g.20189406C>T	CA273153	GJB2	c.176G>A (p.Gly59Asp)	ClinVar dbSNP
13	g.20189407del	CA2695217718	GJB2	c.176del (p.Gly59AlafsTer23)
13	g.20189407C>A	CA387461702	GJB2	c.175G>T (p.Gly59Cys)
13	g.20189407C=	CA2077140098	GJB2	c.175G= (p.Gly59=)
13	g.20189407C>G	CA387461703	GJB2	c.175G>C (p.Gly59Arg)	ClinVar dbSNP
13	g.20189407C>T	CA127035	GJB2	c.175G>A (p.Gly59Ser)	ClinVar dbSNP
13	g.20189408T>A	CA483153838	GJB2	c.174A>T (p.Pro58=)
13	g.20189408T>C	CA6904309	GJB2	c.174A>G (p.Pro58=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189408T>G	CA483153839	GJB2	c.174A>C (p.Pro58=)
13	g.20189408T=	CA2077140104	GJB2	c.174A= (p.Pro58=)
13	g.20189409G>A	CA387461705	GJB2	c.173C>T (p.Pro58Leu)
13	g.20189409G>C	CA387461707	GJB2	c.173C>G (p.Pro58Arg)
13	g.20189409G=	CA2077140107	GJB2	c.173C= (p.Pro58=)
13	g.20189409G>T	CA246460749	GJB2	c.173C>A (p.Pro58Gln)	dbSNP
13	g.20189410G>A	CA387461710	GJB2	c.172C>T (p.Pro58Ser)	ClinVar dbSNP
13	g.20189410G>C	CA16621539	GJB2	c.172C>G (p.Pro58Ala)	ClinVar dbSNP
13	g.20189410G=	CA2077140113	GJB2	c.172C= (p.Pro58=)
13	g.20189410G>T	CA387461711	GJB2	c.172C>A (p.Pro58Thr)
13	g.20189410_20189411delinsAA	CA2695217719	GJB2	c.171_172delinsTT (p.Gln57_Pro58delinsHisSer)
13	g.20189411C>A	CA387461713	GJB2	c.171G>T (p.Gln57His)
13	g.20189411C=	CA2077140121	GJB2	c.171G= (p.Gln57=)
13	g.20189411C>G	CA387461715	GJB2	c.171G>C (p.Gln57His)
13	g.20189411C>T	CA16621645	GJB2	c.171G>A (p.Gln57=)	ClinVar dbSNP
13	g.20189412T>A	CA387461717	GJB2	c.170A>T (p.Gln57Leu)
13	g.20189412T>C	CA387461718	GJB2	c.170A>G (p.Gln57Arg)
13	g.20189412T>G	CA387461720	GJB2	c.170A>C (p.Gln57Pro)
13	g.20189413G>A	CA261637	GJB2	c.169C>T (p.Gln57Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189413G>C	CA387461722	GJB2	c.169C>G (p.Gln57Glu)
13	g.20189413G=	CA2077140126	GJB2	c.169C= (p.Gln57=)
13	g.20189413G>T	CA387461724	GJB2	c.169C>A (p.Gln57Lys)
13	g.20189414C>A	CA483153847	GJB2	c.168G>T (p.Leu56=)	ClinVar
13	g.20189414C>G	CA483153848	GJB2	c.168G>C (p.Leu56=)
13	g.20189414C>T	CA483153849	GJB2	c.168G>A (p.Leu56=)	ClinVar
13	g.20189414_20189415delinsCA	CA2077140129	GJB2	c.167_168delinsTG (p.Leu56=)
13	g.20189415del	CA172217	GJB2	c.167del (p.Leu56ArgfsTer26)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189415A=	CA2581125597	GJB2	c.167T= (p.Leu56=)
13	g.20189415A>C	CA387461726	GJB2	c.167T>G (p.Leu56Arg)
13	g.20189415A>G	CA387461728	GJB2	c.167T>C (p.Leu56Pro)
13	g.20189415A>T	CA387461729	GJB2	c.167T>A (p.Leu56Gln)
13	g.20189415dup	CA2575364822	GJB2	c.167dup (p.Gln57AlafsTer?)
13	g.20189416G>A	CA246460780	GJB2	c.166C>T (p.Leu56=)	ClinVar dbSNP
13	g.20189416G>C	CA387461732	GJB2	c.166C>G (p.Leu56Val)
13	g.20189416G=	CA2077140134	GJB2	c.166C= (p.Leu56=)
13	g.20189416G>T	CA387461734	GJB2	c.166C>A (p.Leu56Met)
13	g.20189418del	CA387461735	GJB2	c.166del (p.Leu56CysfsTer26)
13	g.20189417G>A	CA483153852	GJB2	c.165C>T (p.Thr55=)	gnomAD v4
13	g.20189417G>C	CA483153854	GJB2	c.165C>G (p.Thr55=)
13	g.20189417G>T	CA483153853	GJB2	c.165C>A (p.Thr55=)
13	g.20189418G>A	CA387461738	GJB2	c.164C>T (p.Thr55Ile)
13	g.20189418G>C	CA387461739	GJB2	c.164C>G (p.Thr55Ser)
13	g.20189418G=	CA2077140138	GJB2	c.164C= (p.Thr55=)
13	g.20189418G>T	CA16621540	GJB2	c.164C>A (p.Thr55Asn)	ClinVar dbSNP
13	g.20189419T>A	CA387461741	GJB2	c.163A>T (p.Thr55Ser)
13	g.20189419T>C	CA387461742	GJB2	c.163A>G (p.Thr55Ala)
13	g.20189419T>G	CA387461744	GJB2	c.163A>C (p.Thr55Pro)	dbSNP
13	g.20189419T=	CA2077140144	GJB2	c.163A= (p.Thr55=)
13	g.20189420G>A	CA483153855	GJB2	c.162C>T (p.Asn54=)	ClinVar dbSNP gnomAD v4
13	g.20189420G>C	CA387461746	GJB2	c.162C>G (p.Asn54Lys)
13	g.20189420G=	CA2077140149	GJB2	c.162C= (p.Asn54=)
13	g.20189420G>T	CA127032	GJB2	c.162C>A (p.Asn54Lys)	ClinVar dbSNP
13	g.20189421T>A	CA387461751	GJB2	c.161A>T (p.Asn54Ile)
13	g.20189421T>C	CA387461749	GJB2	c.161A>G (p.Asn54Ser)	ClinVar dbSNP
13	g.20189421T>G	CA387461750	GJB2	c.161A>C (p.Asn54Thr)
13	g.20189422T>A	CA387461753	GJB2	c.160A>T (p.Asn54Tyr)
13	g.20189422T>C	CA387461754	GJB2	c.160A>G (p.Asn54Asp)
13	g.20189422T>G	CA387461756	GJB2	c.160A>C (p.Asn54His)
13	g.20189423G>A	CA246460790	GJB2	c.159C>T (p.Cys53=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189423G>C	CA387461757	GJB2	c.159C>G (p.Cys53Trp)	gnomAD v4
13	g.20189423G=	CA2077140152	GJB2	c.159C= (p.Cys53=)
13	g.20189423G>T	CA387461758	GJB2	c.159C>A (p.Cys53Ter)
13	g.20189424C>A	CA387461760	GJB2	c.158G>T (p.Cys53Phe)	ClinVar dbSNP
13	g.20189424C=	CA2077140157	GJB2	c.158G= (p.Cys53=)
13	g.20189424C>G	CA387461762	GJB2	c.158G>C (p.Cys53Ser)
13	g.20189424C>T	CA172215	GJB2	c.158G>A (p.Cys53Tyr)	ClinVar dbSNP gnomAD v4
13	g.20189426_20189429del	CA2695217720	GJB2	c.155_158del (p.Val52AlafsTer29)	ClinVar
13	g.20189425A=	CA2077140165	GJB2	c.157T= (p.Cys53=)
13	g.20189425A>C	CA387461764	GJB2	c.157T>G (p.Cys53Gly)
13	g.20189425A>G	CA387461766	GJB2	c.157T>C (p.Cys53Arg)	ClinVar dbSNP gnomAD v4
13	g.20189425A>T	CA387461767	GJB2	c.157T>A (p.Cys53Ser)	ClinVar dbSNP
13	g.20189426G>A	CA483153860	GJB2	c.156C>T (p.Val52=)
13	g.20189426G>C	CA483153858	GJB2	c.156C>G (p.Val52=)
13	g.20189426G>T	CA483153859	GJB2	c.156C>A (p.Val52=)
13	g.20189427A>C	CA387461769	GJB2	c.155T>G (p.Val52Gly)
13	g.20189427A>G	CA387461771	GJB2	c.155T>C (p.Val52Ala)
13	g.20189427A>T	CA387461773	GJB2	c.155T>A (p.Val52Asp)
13	g.20189428C>A	CA387461776	GJB2	c.154G>T (p.Val52Phe)
13	g.20189428C=	CA2077140174	GJB2	c.154G= (p.Val52=)
13	g.20189428C>G	CA6904310	GJB2	c.154G>C (p.Val52Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189428C>T	CA387461774	GJB2	c.154G>A (p.Val52Ile)
13	g.20189428_20189430delinsCAA	CA2077140172	GJB2	c.152_154delinsTTG (p.Phe51=)
13	g.20189429A>C	CA387461778	GJB2	c.153T>G (p.Phe51Leu)
13	g.20189429A>G	CA483153861	GJB2	c.153T>C (p.Phe51=)
13	g.20189429A>T	CA387461779	GJB2	c.153T>A (p.Phe51Leu)
13	g.20189431del	CA2622252304	GJB2	c.153del (p.Phe51LeufsTer?)	gnomAD v4
13	g.20189430_20189431del	CA6904311	GJB2	c.152_153del (p.Phe51CysfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189430A>C	CA387461782	GJB2	c.152T>G (p.Phe51Cys)
13	g.20189430A>G	CA387461784	GJB2	c.152T>C (p.Phe51Ser)
13	g.20189430A>T	CA387461785	GJB2	c.152T>A (p.Phe51Tyr)
13	g.20189431A>C	CA387461787	GJB2	c.151T>G (p.Phe51Val)
13	g.20189431A>G	CA387461790	GJB2	c.151T>C (p.Phe51Leu)	gnomAD v4
13	g.20189431A>T	CA387461788	GJB2	c.151T>A (p.Phe51Ile)
13	g.20189432G>A	CA483153865	GJB2	c.150C>T (p.Asp50=)
13	g.20189432G>C	CA387461792	GJB2	c.150C>G (p.Asp50Glu)
13	g.20189432G>T	CA387461793	GJB2	c.150C>A (p.Asp50Glu)
13	g.20189433T>A	CA387461795	GJB2	c.149A>T (p.Asp50Val)
13	g.20189433T>C	CA387461797	GJB2	c.149A>G (p.Asp50Gly)
13	g.20189433T>G	CA387461799	GJB2	c.149A>C (p.Asp50Ala)
13	g.20189434C>A	CA127031	GJB2	c.148G>T (p.Asp50Tyr)	ClinVar dbSNP
13	g.20189434C=	CA2077140187	GJB2	c.148G= (p.Asp50=)
13	g.20189434C>G	CA387461801	GJB2	c.148G>C (p.Asp50His)
13	g.20189434C>T	CA127027	GJB2	c.148G>A (p.Asp50Asn)	ClinVar dbSNP
13	g.20189435G>A	CA483153866	GJB2	c.147C>T (p.Ala49=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189435G>C	CA483153867	GJB2	c.147C>G (p.Ala49=)
13	g.20189435G=	CA2077140195	GJB2	c.147C= (p.Ala49=)
13	g.20189435G>T	CA483153868	GJB2	c.147C>A (p.Ala49=)
13	g.20189436del	CA2695217721	GJB2	c.147del (p.Asp50ThrfsTer?)
13	g.20189436G>A	CA16042821	GJB2	c.146C>T (p.Ala49Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189436G>C	CA387461804	GJB2	c.146C>G (p.Ala49Gly)
13	g.20189436G=	CA2077140200	GJB2	c.146C= (p.Ala49=)
13	g.20189436G>T	CA387461805	GJB2	c.146C>A (p.Ala49Asp)
13	g.20189437C>A	CA387461807	GJB2	c.145G>T (p.Ala49Ser)
13	g.20189437C>G	CA387461811	GJB2	c.145G>C (p.Ala49Pro)
13	g.20189437C>T	CA387461809	GJB2	c.145G>A (p.Ala49Thr)
13	g.20189438del	CA2575364823	GJB2	c.145del (p.Ala49ProfsTer?)	ClinVar
13	g.20189438C>A	CA387461813	GJB2	c.144G>T (p.Gln48His)
13	g.20189438C>G	CA387461815	GJB2	c.144G>C (p.Gln48His)	gnomAD v4
13	g.20189438C>T	CA483153872	GJB2	c.144G>A (p.Gln48=)
13	g.20189439T>A	CA387461816	GJB2	c.143A>T (p.Gln48Leu)
13	g.20189439T>C	CA387461817	GJB2	c.143A>G (p.Gln48Arg)
13	g.20189439T>G	CA387461819	GJB2	c.143A>C (p.Gln48Pro)
13	g.20189440_20189445del	CA2695217722	GJB2	c.138_143del (p.Asp46_Gln48delinsGlu)
13	g.20189440G>A	CA387461820	GJB2	c.142C>T (p.Gln48Ter)
13	g.20189440G>C	CA387461821	GJB2	c.142C>G (p.Gln48Glu)
13	g.20189440G>T	CA387461823	GJB2	c.142C>A (p.Gln48Lys)
13	g.20189440_20189445delinsGCTCAT	CA2077140204	GJB2	c.137_142delinsATGAGC (p.Asp46=)
13	g.20189441C>A	CA387461825	GJB2	c.141G>T (p.Glu47Asp)
13	g.20189441C=	CA2077140210	GJB2	c.141G= (p.Glu47=)
13	g.20189441C>G	CA387461826	GJB2	c.141G>C (p.Glu47Asp)
13	g.20189441C>T	CA246460808	GJB2	c.141G>A (p.Glu47=)	dbSNP gnomAD v4
13	g.20189444_20189448del	CA1139663002	GJB2	c.137_141del (p.Asp46AlafsTer?)	ClinVar dbSNP
13	g.20189442T>A	CA387461831	GJB2	c.140A>T (p.Glu47Val)
13	g.20189442T>C	CA387461830	GJB2	c.140A>G (p.Glu47Gly)
13	g.20189442T>G	CA387461829	GJB2	c.140A>C (p.Glu47Ala)
13	g.20189443C>A	CA172213	GJB2	c.139G>T (p.Glu47Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189443C=	CA2077140219	GJB2	c.139G= (p.Glu47=)
13	g.20189443C>G	CA387461834	GJB2	c.139G>C (p.Glu47Gln)
13	g.20189443C>T	CA387461835	GJB2	c.139G>A (p.Glu47Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189444A>C	CA387461837	GJB2	c.138T>G (p.Asp46Glu)
13	g.20189444A>G	CA483153874	GJB2	c.138T>C (p.Asp46=)
13	g.20189444A>T	CA387461839	GJB2	c.138T>A (p.Asp46Glu)
13	g.20189445T>A	CA387461841	GJB2	c.137A>T (p.Asp46Val)
13	g.20189445T>C	CA387461843	GJB2	c.137A>G (p.Asp46Gly)
13	g.20189445T>G	CA387461844	GJB2	c.137A>C (p.Asp46Ala)
13	g.20189446C>A	CA387461846	GJB2	c.136G>T (p.Asp46Tyr)
13	g.20189446C=	CA2077140225	GJB2	c.136G= (p.Asp46=)
13	g.20189446C>G	CA387461847	GJB2	c.136G>C (p.Asp46His)	ClinVar dbSNP
13	g.20189446C>T	CA16621541	GJB2	c.136G>A (p.Asp46Asn)	ClinVar dbSNP
13	g.20189447T>A	CA6904312	GJB2	c.135A>T (p.Gly45=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189447T>C	CA483153877	GJB2	c.135A>G (p.Gly45=)	dbSNP
13	g.20189447T>G	CA483153878	GJB2	c.135A>C (p.Gly45=)
13	g.20189447T=	CA2077140233	GJB2	c.135A= (p.Gly45=)
13	g.20189447_20189448delinsTC	CA2077140234	GJB2	c.134_135delinsGA (p.Gly45=)
13	g.20189448C>A	CA387461852	GJB2	c.134G>T (p.Gly45Val)
13	g.20189448C=	CA2077140245	GJB2	c.134G= (p.Gly45=)
13	g.20189448C>G	CA387461853	GJB2	c.134G>C (p.Gly45Ala)
13	g.20189448C>T	CA127033	GJB2	c.134G>A (p.Gly45Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189451del	CA16041594	GJB2	c.134del (p.Gly45GlufsTer?)	ClinVar dbSNP
13	g.20189449C>A	CA387461857	GJB2	c.133G>T (p.Gly45Ter)	gnomAD v4
13	g.20189449C=	CA2077140251	GJB2	c.133G= (p.Gly45=)
13	g.20189449C>G	CA387461855	GJB2	c.133G>C (p.Gly45Arg)
13	g.20189449C>T	CA387461860	GJB2	c.133G>A (p.Gly45Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189450C>A	CA387461862	GJB2	c.132G>T (p.Trp44Cys)
13	g.20189450C=	CA2077140259	GJB2	c.132G= (p.Trp44=)
13	g.20189450C>G	CA257679	GJB2	c.132G>C (p.Trp44Cys)	ClinVar dbSNP
13	g.20189450C>T	CA172211	GJB2	c.132G>A (p.Trp44Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189450_20189452delinsCCA	CA2077140263	GJB2	c.130_132delinsTGG (p.Trp44=)
13	g.20189451_20189453del	CA912980099	GJB2	c.130_132del (p.Trp44del)
13	g.20189451C>A	CA387461866	GJB2	c.131G>T (p.Trp44Leu)
13	g.20189451C=	CA2077140276	GJB2	c.131G= (p.Trp44=)
13	g.20189451C>G	CA257682	GJB2	c.131G>C (p.Trp44Ser)	ClinVar dbSNP
13	g.20189451C>T	CA274012	GJB2	c.131G>A (p.Trp44Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189454_20189455del	CA658823494	GJB2	c.130_131del (p.Trp44GlyfsTer3)	ClinVar dbSNP
13	g.20189452A>C	CA387461870	GJB2	c.130T>G (p.Trp44Gly)
13	g.20189452A>G	CA387461871	GJB2	c.130T>C (p.Trp44Arg)
13	g.20189452A>T	CA387461872	GJB2	c.130T>A (p.Trp44Arg)
13	g.20189453del	CA2695217723	GJB2	c.129del (p.Trp44GlyfsTer?)
13	g.20189453C>A	CA483153883	GJB2	c.129G>T (p.Val43=)
13	g.20189453C>G	CA483153884	GJB2	c.129G>C (p.Val43=)
13	g.20189453C>T	CA483153885	GJB2	c.129G>A (p.Val43=)
13	g.20189454A=	CA2077140282	GJB2	c.128T= (p.Val43=)
13	g.20189454A>C	CA387461874	GJB2	c.128T>G (p.Val43Gly)	dbSNP
13	g.20189454A>G	CA6904313	GJB2	c.128T>C (p.Val43Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189454A>T	CA387461876	GJB2	c.128T>A (p.Val43Glu)
13	g.20189454_20189457delinsACCT	CA2077140283	GJB2	c.125_128delinsAGGT (p.Glu42=)
13	g.20189454_20189461del	CA2575364824	GJB2	c.121_128del (p.Lys41ValfsTer4)
13	g.20189455C>A	CA387461883	GJB2	c.127G>T (p.Val43Leu)
13	g.20189455C>G	CA387461881	GJB2	c.127G>C (p.Val43Leu)
13	g.20189455C>T	CA387461879	GJB2	c.127G>A (p.Val43Met)
13	g.20189456del	CA2695217724	GJB2	c.127del (p.Val43CysfsTer?)
13	g.20189458_20189460del	CA658795176	GJB2	c.125_127del (p.Glu42del)	ClinVar dbSNP
13	g.20189456C>A	CA6904314	GJB2	c.126G>T (p.Glu42Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189456C=	CA2077140289	GJB2	c.126G= (p.Glu42=)
13	g.20189456C>G	CA387461886	GJB2	c.126G>C (p.Glu42Asp)	gnomAD v4
13	g.20189456C>T	CA6904315	GJB2	c.126G>A (p.Glu42=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189457T>A	CA387461888	GJB2	c.125A>T (p.Glu42Val)
13	g.20189457T>C	CA387461890	GJB2	c.125A>G (p.Glu42Gly)
13	g.20189457T>G	CA387461892	GJB2	c.125A>C (p.Glu42Ala)
13	g.20189458C>A	CA387461893	GJB2	c.124G>T (p.Glu42Ter)	COSMIC
13	g.20189458C>G	CA387461895	GJB2	c.124G>C (p.Glu42Gln)
13	g.20189458C>T	CA387461894	GJB2	c.124G>A (p.Glu42Lys)
13	g.20189459C>A	CA387461897	GJB2	c.123G>T (p.Lys41Asn)
13	g.20189459C>G	CA387461899	GJB2	c.123G>C (p.Lys41Asn)
13	g.20189459C>T	CA483153886	GJB2	c.123G>A (p.Lys41=)
13	g.20189460T>A	CA387461901	GJB2	c.122A>T (p.Lys41Met)
13	g.20189460T>C	CA246460871	GJB2	c.122A>G (p.Lys41Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189460T>G	CA387461902	GJB2	c.122A>C (p.Lys41Thr)	gnomAD v4
13	g.20189460T=	CA2077140292	GJB2	c.122A= (p.Lys41=)
13	g.20189461T>A	CA387461904	GJB2	c.121A>T (p.Lys41Ter)
13	g.20189461T>C	CA387461906	GJB2	c.121A>G (p.Lys41Glu)	gnomAD v4
13	g.20189461T>G	CA387461908	GJB2	c.121A>C (p.Lys41Gln)
13	g.20189462T>A	CA483153890	GJB2	c.120A>T (p.Ala40=)
13	g.20189462T>C	CA483153891	GJB2	c.120A>G (p.Ala40=)	ClinVar
13	g.20189462T>G	CA241523	GJB2	c.120A>C (p.Ala40=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189462T=	CA2077140299	GJB2	c.120A= (p.Ala40=)
13	g.20189463G>A	CA387461910	GJB2	c.119C>T (p.Ala40Val)
13	g.20189463G>C	CA274135	GJB2	c.119C>G (p.Ala40Gly)	ClinVar dbSNP
13	g.20189463G=	CA2077140332	GJB2	c.119C= (p.Ala40=)
13	g.20189463G>T	CA261635	GJB2	c.119C>A (p.Ala40Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched