Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189052_20189062del	CA10576936	GJB2	c.523_533del (p.Pro175GlyfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189053_20189069del	CA2695217656	GJB2	c.516_532del (p.Trp172CysfsTer?)
13	g.20189060A>C	CA387460975	GJB2	c.522T>G (p.Cys174Trp)
13	g.20189060A>G	CA483153879	GJB2	c.522T>C (p.Cys174=)	ClinVar dbSNP gnomAD v4
13	g.20189060A>T	CA387460976	GJB2	c.522T>A (p.Cys174Ter)
13	g.20189060_20189073del	CA2695217657	GJB2	c.509_522del (p.Asn170ThrfsTer?)
13	g.20189061C>A	CA387460979	GJB2	c.521G>T (p.Cys174Phe)
13	g.20189061C>G	CA387460977	GJB2	c.521G>C (p.Cys174Ser)
13	g.20189061C>T	CA387460978	GJB2	c.521G>A (p.Cys174Tyr)
13	g.20189062A>C	CA387460980	GJB2	c.520T>G (p.Cys174Gly)
13	g.20189062A>G	CA387460981	GJB2	c.520T>C (p.Cys174Arg)
13	g.20189062A>T	CA387460982	GJB2	c.520T>A (p.Cys174Ser)
13	g.20189063A=	CA2077138957	GJB2	c.519T= (p.Pro173=)
13	g.20189063A>C	CA483153880	GJB2	c.519T>G (p.Pro173=)
13	g.20189063A>G	CA483153881	GJB2	c.519T>C (p.Pro173=)	dbSNP
13	g.20189063A>T	CA483153882	GJB2	c.519T>A (p.Pro173=)
13	g.20189064G>A	CA387460983	GJB2	c.518C>T (p.Pro173Leu)	ClinVar dbSNP COSMIC
13	g.20189064G>C	CA387460984	GJB2	c.518C>G (p.Pro173Arg)	ClinVar
13	g.20189064G=	CA2077138963	GJB2	c.518C= (p.Pro173=)
13	g.20189064G>T	CA387460985	GJB2	c.518C>A (p.Pro173His)
13	g.20189065G>A	CA387460986	GJB2	c.517C>T (p.Pro173Ser)	ClinVar dbSNP
13	g.20189065G>C	CA387460987	GJB2	c.517C>G (p.Pro173Ala)
13	g.20189065G=	CA2077138968	GJB2	c.517C= (p.Pro173=)
13	g.20189065G>T	CA387460988	GJB2	c.517C>A (p.Pro173Thr)
13	g.20189066C>A	CA387460989	GJB2	c.516G>T (p.Trp172Cys)
13	g.20189066C=	CA2077138974	GJB2	c.516G= (p.Trp172=)
13	g.20189066C>G	CA387460990	GJB2	c.516G>C (p.Trp172Cys)	ClinVar dbSNP
13	g.20189066C>T	CA387460991	GJB2	c.516G>A (p.Trp172Ter)	ClinVar dbSNP gnomAD v4
13	g.20189067C>A	CA387460994	GJB2	c.515G>T (p.Trp172Leu)
13	g.20189067C>G	CA387460993	GJB2	c.515G>C (p.Trp172Ser)
13	g.20189067C>T	CA387460992	GJB2	c.515G>A (p.Trp172Ter)
13	g.20189067_20189068delinsCA	CA2077138980	GJB2	c.514_515delinsTG (p.Trp172=)
13	g.20189068del	CA16041593	GJB2	c.514del (p.Trp172GlyfsTer24)	ClinVar dbSNP
13	g.20189068A=	CA2077138987	GJB2	c.514T= (p.Trp172=)
13	g.20189068A>C	CA387460995	GJB2	c.514T>G (p.Trp172Gly)
13	g.20189068A>G	CA387460996	GJB2	c.514T>C (p.Trp172Arg)
13	g.20189068A>T	CA6904247	GJB2	c.514T>A (p.Trp172Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189069G>A	CA483153887	GJB2	c.513C>T (p.Ala171=)
13	g.20189069G>C	CA483153888	GJB2	c.513C>G (p.Ala171=)	ClinVar dbSNP
13	g.20189069G>T	CA483153889	GJB2	c.513C>A (p.Ala171=)
13	g.20189069_20189070insCGTT	CA2695217659	GJB2	c.512_513insAACG (p.Trp172ThrfsTer?)
13	g.20189070G>A	CA387460997	GJB2	c.512C>T (p.Ala171Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189070G>C	CA387460998	GJB2	c.512C>G (p.Ala171Gly)
13	g.20189070G=	CA2077138993	GJB2	c.512C= (p.Ala171=)
13	g.20189070G>T	CA387460999	GJB2	c.512C>A (p.Ala171Asp)
13	g.20189071_20189072del	CA2695217658	GJB2	c.511_512del (p.Ala171LeufsTer?)
13	g.20189071C>A	CA387461000	GJB2	c.511G>T (p.Ala171Ser)	dbSNP gnomAD v4
13	g.20189071C=	CA2077139003	GJB2	c.511G= (p.Ala171=)
13	g.20189071C>G	CA387461001	GJB2	c.511G>C (p.Ala171Pro)	gnomAD v4
13	g.20189071C>T	CA134985	GJB2	c.511G>A (p.Ala171Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189071_20189074dup	CA274346	GJB2	c.508_511dup (p.Ala171GlufsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189072_20189081del	CA2695217660	GJB2	c.502_511del (p.Lys168ProfsTer25)
13	g.20189072G>A	CA6904249	GJB2	c.510C>T (p.Asn170=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189072G>C	CA387461002	GJB2	c.510C>G (p.Asn170Lys)
13	g.20189072G=	CA2077139009	GJB2	c.510C= (p.Asn170=)
13	g.20189072G>T	CA6904250	GJB2	c.510C>A (p.Asn170Lys)	dbSNP ExAC
13	g.20189073T>A	CA387461003	GJB2	c.509A>T (p.Asn170Ile)
13	g.20189073T>C	CA387461005	GJB2	c.509A>G (p.Asn170Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189073T>G	CA387461004	GJB2	c.509A>C (p.Asn170Thr)
13	g.20189073T=	CA2077139016	GJB2	c.509A= (p.Asn170=)
13	g.20189074dup	CA6904248	GJB2	c.509dup (p.Asn170LysfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189074T>A	CA387461006	GJB2	c.508A>T (p.Asn170Tyr)
13	g.20189074T>C	CA387461007	GJB2	c.508A>G (p.Asn170Asp)
13	g.20189074T>G	CA387461008	GJB2	c.508A>C (p.Asn170His)
13	g.20189075G>A	CA483153895	GJB2	c.507C>T (p.Cys169=)
13	g.20189075G>C	CA387461009	GJB2	c.507C>G (p.Cys169Trp)	gnomAD v4
13	g.20189075G>T	CA387461010	GJB2	c.507C>A (p.Cys169Ter)
13	g.20189076C>A	CA387461011	GJB2	c.506G>T (p.Cys169Phe)
13	g.20189076C=	CA2077139020	GJB2	c.506G= (p.Cys169=)
13	g.20189076C>G	CA387461012	GJB2	c.506G>C (p.Cys169Ser)
13	g.20189076C>T	CA6904251	GJB2	c.506G>A (p.Cys169Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189077A=	CA2077139024	GJB2	c.505T= (p.Cys169=)
13	g.20189077A>C	CA6904252	GJB2	c.505T>G (p.Cys169Gly)	dbSNP ExAC
13	g.20189077A>G	CA6904253	GJB2	c.505T>C (p.Cys169Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189077A>T	CA6904254	GJB2	c.505T>A (p.Cys169Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189078C>A	CA387461013	GJB2	c.504G>T (p.Lys168Asn)	gnomAD v4
13	g.20189078C>G	CA387461014	GJB2	c.504G>C (p.Lys168Asn)	gnomAD v4
13	g.20189078C>T	CA483153900	GJB2	c.504G>A (p.Lys168=)	ClinVar dbSNP
13	g.20189078_20189079insCTTC	CA2695217661	GJB2	c.504_505insAAGG (p.Cys169LysfsTer?)
13	g.20189079T>A	CA387461015	GJB2	c.503A>T (p.Lys168Met)
13	g.20189079T>C	CA134979	GJB2	c.503A>G (p.Lys168Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189079T>G	CA387461016	GJB2	c.503A>C (p.Lys168Thr)
13	g.20189079T=	CA2077139031	GJB2	c.503A= (p.Lys168=)
13	g.20189080T>A	CA387461017	GJB2	c.502A>T (p.Lys168Ter)
13	g.20189080T>C	CA6904255	GJB2	c.502A>G (p.Lys168Glu)	dbSNP ExAC gnomAD v2
13	g.20189080T>G	CA387461018	GJB2	c.502A>C (p.Lys168Gln)
13	g.20189080T=	CA2077139036	GJB2	c.502A= (p.Lys168=)
13	g.20189081C>A	CA483153903	GJB2	c.501G>T (p.Val167=)
13	g.20189081C>G	CA483153904	GJB2	c.501G>C (p.Val167=)
13	g.20189081C>T	CA483153906	GJB2	c.501G>A (p.Val167=)
13	g.20189082A=	CA2077139042	GJB2	c.500T= (p.Val167=)
13	g.20189082A>C	CA6904256	GJB2	c.500T>G (p.Val167Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189082A>G	CA387461019	GJB2	c.500T>C (p.Val167Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189082A>T	CA387461020	GJB2	c.500T>A (p.Val167Glu)
13	g.20189083C>A	CA387461021	GJB2	c.499G>T (p.Val167Leu)
13	g.20189083C=	CA2077139045	GJB2	c.499G= (p.Val167=)
13	g.20189083C>G	CA387461022	GJB2	c.499G>C (p.Val167Leu)
13	g.20189083C>T	CA134983	GJB2	c.499G>A (p.Val167Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189084C>A	CA483153907	GJB2	c.498G>T (p.Leu166=)
13	g.20189084C>G	CA483153908	GJB2	c.498G>C (p.Leu166=)
13	g.20189084C>T	CA483153909	GJB2	c.498G>A (p.Leu166=)
13	g.20189085A>C	CA387461025	GJB2	c.497T>G (p.Leu166Arg)
13	g.20189085A>G	CA387461024	GJB2	c.497T>C (p.Leu166Pro)
13	g.20189085A>T	CA387461023	GJB2	c.497T>A (p.Leu166Gln)
13	g.20189086G>A	CA483153912	GJB2	c.496C>T (p.Leu166=)
13	g.20189086G>C	CA387461026	GJB2	c.496C>G (p.Leu166Val)
13	g.20189086G>T	CA387461027	GJB2	c.496C>A (p.Leu166Met)
13	g.20189087C>A	CA483153913	GJB2	c.495G>T (p.Arg165=)
13	g.20189087C>G	CA483153914	GJB2	c.495G>C (p.Arg165=)
13	g.20189087C>T	CA483153915	GJB2	c.495G>A (p.Arg165=)
13	g.20189088dup	CA2622252281	GJB2	c.495dup (p.Leu166AlafsTer?)	gnomAD v4
13	g.20189088C>A	CA387461028	GJB2	c.494G>T (p.Arg165Leu)	gnomAD v4
13	g.20189088C=	CA2077139050	GJB2	c.494G= (p.Arg165=)
13	g.20189088C>G	CA387461029	GJB2	c.494G>C (p.Arg165Pro)	gnomAD v4
13	g.20189088C>T	CA6904257	GJB2	c.494G>A (p.Arg165Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189089G>A	CA180672	GJB2	c.493C>T (p.Arg165Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189089G>C	CA387461030	GJB2	c.493C>G (p.Arg165Gly)
13	g.20189089G=	CA2077139055	GJB2	c.493C= (p.Arg165=)
13	g.20189089G>T	CA483153916	GJB2	c.493C>A (p.Arg165=)
13	g.20189090C>A	CA387461031	GJB2	c.492G>T (p.Gln164His)
13	g.20189090C>G	CA387461032	GJB2	c.492G>C (p.Gln164His)
13	g.20189090C>T	CA483153917	GJB2	c.492G>A (p.Gln164=)
13	g.20189091T>A	CA387461033	GJB2	c.491A>T (p.Gln164Leu)
13	g.20189091T>C	CA387461034	GJB2	c.491A>G (p.Gln164Arg)
13	g.20189091T>G	CA387461035	GJB2	c.491A>C (p.Gln164Pro)
13	g.20189092G>A	CA387461037	GJB2	c.490C>T (p.Gln164Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189092G>C	CA6904258	GJB2	c.490C>G (p.Gln164Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189092G=	CA2077139058	GJB2	c.490C= (p.Gln164=)
13	g.20189092G>T	CA387461036	GJB2	c.490C>A (p.Gln164Lys)
13	g.20189093C>A	CA387461038	GJB2	c.489G>T (p.Met163Ile)
13	g.20189093C>G	CA387461040	GJB2	c.489G>C (p.Met163Ile)
13	g.20189093C>T	CA387461039	GJB2	c.489G>A (p.Met163Ile)
13	g.20189094A=	CA2077139061	GJB2	c.488T= (p.Met163=)
13	g.20189094A>C	CA387461041	GJB2	c.488T>G (p.Met163Arg)	ClinVar dbSNP
13	g.20189094A>G	CA387461043	GJB2	c.488T>C (p.Met163Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189094A>T	CA387461042	GJB2	c.488T>A (p.Met163Lys)
13	g.20189095T>A	CA387461044	GJB2	c.487A>T (p.Met163Leu)
13	g.20189095T>C	CA134981	GJB2	c.487A>G (p.Met163Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189095T>G	CA16621538	GJB2	c.487A>C (p.Met163Leu)	ClinVar dbSNP
13	g.20189095T=	CA2077139072	GJB2	c.487A= (p.Met163=)
13	g.20189095_20189137del	CA912980093	GJB2	c.445_487del (p.Ala149CysfsTer5)
13	g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC	CA2077139077	GJB2	c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA (p.Ala149=)
13	g.20189095_20189096insA	CA2695217662	GJB2	c.486_487insT (p.Met163TyrfsTer?)
13	g.20189096G>A	CA483153925	GJB2	c.486C>T (p.Ser162=)	COSMIC
13	g.20189096G>C	CA483153926	GJB2	c.486C>G (p.Ser162=)
13	g.20189096G>T	CA483153924	GJB2	c.486C>A (p.Ser162=)
13	g.20189098_20189139del	CA658823446	GJB2	c.445_486del (p.Ala149_Ser162del)	ClinVar dbSNP gnomAD v4
13	g.20189097G>A	CA387461045	GJB2	c.485C>T (p.Ser162Phe)
13	g.20189097G>C	CA387461046	GJB2	c.485C>G (p.Ser162Cys)
13	g.20189097G>T	CA387461047	GJB2	c.485C>A (p.Ser162Tyr)
13	g.20189098A=	CA2077139084	GJB2	c.484T= (p.Ser162=)
13	g.20189098A>C	CA387461048	GJB2	c.484T>G (p.Ser162Ala)
13	g.20189098A>G	CA387461049	GJB2	c.484T>C (p.Ser162Pro)
13	g.20189098A>T	CA387461050	GJB2	c.484T>A (p.Ser162Thr)
13	g.20189099G>A	CA483153929	GJB2	c.483C>T (p.Phe161=)
13	g.20189099G>C	CA387461051	GJB2	c.483C>G (p.Phe161Leu)
13	g.20189099G=	CA2077139088	GJB2	c.483C= (p.Phe161=)
13	g.20189099G>T	CA387461052	GJB2	c.483C>A (p.Phe161Leu)	dbSNP gnomAD v4
13	g.20189099_20189103dup	CA608984148	GJB2	c.479_483dup (p.Ser162AlafsTer8)	dbSNP gnomAD v2 gnomAD v4
13	g.20189100A>C	CA387461055	GJB2	c.482T>G (p.Phe161Cys)
13	g.20189100A>G	CA387461054	GJB2	c.482T>C (p.Phe161Ser)
13	g.20189100A>T	CA387461053	GJB2	c.482T>A (p.Phe161Tyr)
13	g.20189101A=	CA2077139092	GJB2	c.481T= (p.Phe161=)
13	g.20189101A>C	CA387461056	GJB2	c.481T>G (p.Phe161Val)	dbSNP gnomAD v2
13	g.20189101A>G	CA387461057	GJB2	c.481T>C (p.Phe161Leu)
13	g.20189101A>T	CA387461058	GJB2	c.481T>A (p.Phe161Ile)
13	g.20189102G>A	CA483153932	GJB2	c.480C>T (p.Gly160=)
13	g.20189102G>C	CA483153936	GJB2	c.480C>G (p.Gly160=)
13	g.20189102G>T	CA483153934	GJB2	c.480C>A (p.Gly160=)
13	g.20189103C>A	CA387461059	GJB2	c.479G>T (p.Gly160Val)
13	g.20189103C=	CA2077139095	GJB2	c.479G= (p.Gly160=)
13	g.20189103C>G	CA387461060	GJB2	c.479G>C (p.Gly160Ala)
13	g.20189103C>T	CA246460068	GJB2	c.479G>A (p.Gly160Asp)	dbSNP gnomAD v4
13	g.20189104C>A	CA387461061	GJB2	c.478G>T (p.Gly160Cys)
13	g.20189104C=	CA2077139101	GJB2	c.478G= (p.Gly160=)
13	g.20189104C>G	CA387461062	GJB2	c.478G>C (p.Gly160Arg)
13	g.20189104C>T	CA134977	GJB2	c.478G>A (p.Gly160Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189105_20189106insGCG	CA2622252282	GJB2	c.478_479insCCG (p.Asp159_Gly160insAla)	gnomAD v4
13	g.20189105G>A	CA246460077	GJB2	c.477C>T (p.Asp159=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189105G>C	CA387461063	GJB2	c.477C>G (p.Asp159Glu)
13	g.20189105G=	CA2077139105	GJB2	c.477C= (p.Asp159=)
13	g.20189105G>T	CA387461064	GJB2	c.477C>A (p.Asp159Glu)
13	g.20189106T>A	CA257680	GJB2	c.476A>T (p.Asp159Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189106T>C	CA387461066	GJB2	c.476A>G (p.Asp159Gly)
13	g.20189106T>G	CA387461065	GJB2	c.476A>C (p.Asp159Ala)
13	g.20189106T=	CA2077139110	GJB2	c.476A= (p.Asp159=)
13	g.20189107C>A	CA6904260	GJB2	c.475G>T (p.Asp159Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189107C=	CA2077139117	GJB2	c.475G= (p.Asp159=)
13	g.20189107C>G	CA387461067	GJB2	c.475G>C (p.Asp159His)
13	g.20189107C>T	CA6904259	GJB2	c.475G>A (p.Asp159Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189116_20189133dup	CA2077139122	GJB2	c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)	ClinVar dbSNP
13	g.20189108G>A	CA6904261	GJB2	c.474C>T (p.Tyr158=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189108G>C	CA387461068	GJB2	c.474C>G (p.Tyr158Ter)	ClinVar dbSNP
13	g.20189108G=	CA2077139129	GJB2	c.474C= (p.Tyr158=)
13	g.20189108G>T	CA387461069	GJB2	c.474C>A (p.Tyr158Ter)
13	g.20189109T>A	CA387461070	GJB2	c.473A>T (p.Tyr158Phe)
13	g.20189109T>C	CA387461071	GJB2	c.473A>G (p.Tyr158Cys)
13	g.20189109T>G	CA387461072	GJB2	c.473A>C (p.Tyr158Ser)
13	g.20189110A>C	CA387461073	GJB2	c.472T>G (p.Tyr158Asp)
13	g.20189110A>G	CA387461074	GJB2	c.472T>C (p.Tyr158His)
13	g.20189110A>T	CA387461075	GJB2	c.472T>A (p.Tyr158Asn)
13	g.20189111C>A	CA387461077	GJB2	c.471G>T (p.Met157Ile)
13	g.20189111C=	CA2077139136	GJB2	c.471G= (p.Met157=)
13	g.20189111C>G	CA387461076	GJB2	c.471G>C (p.Met157Ile)	gnomAD v4
13	g.20189111C>T	CA6904262	GJB2	c.471G>A (p.Met157Ile)	dbSNP ExAC gnomAD v2
13	g.20189112A=	CA2077139141	GJB2	c.470T= (p.Met157=)
13	g.20189112A>C	CA387461078	GJB2	c.470T>G (p.Met157Arg)
13	g.20189112A>G	CA184190	GJB2	c.470T>C (p.Met157Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189112A>T	CA387461079	GJB2	c.470T>A (p.Met157Lys)
13	g.20189113T>A	CA387461080	GJB2	c.469A>T (p.Met157Leu)
13	g.20189113T>C	CA387461081	GJB2	c.469A>G (p.Met157Val)
13	g.20189113T>G	CA387461082	GJB2	c.469A>C (p.Met157Leu)
13	g.20189114G>A	CA483153942	GJB2	c.468C>T (p.Val156=)	ClinVar dbSNP
13	g.20189114G>C	CA483153943	GJB2	c.468C>G (p.Val156=)
13	g.20189114G>T	CA483153944	GJB2	c.468C>A (p.Val156=)
13	g.20189115A>C	CA387461083	GJB2	c.467T>G (p.Val156Gly)	gnomAD v4
13	g.20189115A>G	CA387461084	GJB2	c.467T>C (p.Val156Ala)
13	g.20189115A>T	CA387461085	GJB2	c.467T>A (p.Val156Asp)
13	g.20189116C>A	CA387461086	GJB2	c.466G>T (p.Val156Phe)
13	g.20189116C=	CA2077139146	GJB2	c.466G= (p.Val156=)
13	g.20189116C>G	CA387461087	GJB2	c.466G>C (p.Val156Leu)
13	g.20189116C>T	CA387461088	GJB2	c.466G>A (p.Val156Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189117A=	CA2077139152	GJB2	c.465T= (p.Tyr155=)
13	g.20189117A>C	CA387461089	GJB2	c.465T>G (p.Tyr155Ter)
13	g.20189117A>G	CA483153945	GJB2	c.465T>C (p.Tyr155=)
13	g.20189117A>T	CA275075	GJB2	c.465T>A (p.Tyr155Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189118_20189119del	CA2695217663	GJB2	c.464_465del (p.Tyr155CysfsTer?)
13	g.20189118T>A	CA387461090	GJB2	c.464A>T (p.Tyr155Phe)
13	g.20189118T>C	CA6904263	GJB2	c.464A>G (p.Tyr155Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189118T>G	CA387461091	GJB2	c.464A>C (p.Tyr155Ser)	dbSNP gnomAD v2 gnomAD v4
13	g.20189118T=	CA2077139158	GJB2	c.464A= (p.Tyr155=)
13	g.20189119A>C	CA387461092	GJB2	c.463T>G (p.Tyr155Asp)
13	g.20189119A>G	CA387461093	GJB2	c.463T>C (p.Tyr155His)
13	g.20189119A>T	CA387461094	GJB2	c.463T>A (p.Tyr155Asn)
13	g.20189120G>A	CA483153946	GJB2	c.462C>T (p.Phe154=)
13	g.20189120G>C	CA387461095	GJB2	c.462C>G (p.Phe154Leu)
13	g.20189120G>T	CA387461096	GJB2	c.462C>A (p.Phe154Leu)
13	g.20189121A>C	CA387461097	GJB2	c.461T>G (p.Phe154Cys)
13	g.20189121A>G	CA387461098	GJB2	c.461T>C (p.Phe154Ser)
13	g.20189121A>T	CA387461099	GJB2	c.461T>A (p.Phe154Tyr)
13	g.20189122A>C	CA387461100	GJB2	c.460T>G (p.Phe154Val)
13	g.20189122A>G	CA387461101	GJB2	c.460T>C (p.Phe154Leu)
13	g.20189122A>T	CA387461102	GJB2	c.460T>A (p.Phe154Ile)
13	g.20189122_20189129delinsGTCTTCTCT	CA2580086788	GJB2	c.453_460delinsAGAGAAGAC (p.Met151IlefsTer?)	ClinVar
13	g.20189123G>A	CA483153947	GJB2	c.459C>T (p.Val153=)
13	g.20189123G>C	CA483153948	GJB2	c.459C>G (p.Val153=)
13	g.20189123G>T	CA483153949	GJB2	c.459C>A (p.Val153=)
13	g.20189124A>C	CA387461105	GJB2	c.458T>G (p.Val153Gly)
13	g.20189124A>G	CA387461103	GJB2	c.458T>C (p.Val153Ala)	ClinVar
13	g.20189124A>T	CA387461104	GJB2	c.458T>A (p.Val153Asp)
13	g.20189125C>A	CA387461106	GJB2	c.457G>T (p.Val153Phe)	dbSNP gnomAD v4
13	g.20189125C=	CA2077139163	GJB2	c.457G= (p.Val153=)
13	g.20189125C>G	CA387461107	GJB2	c.457G>C (p.Val153Leu)
13	g.20189125C>T	CA134975	GJB2	c.457G>A (p.Val153Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189126G>A	CA483153950	GJB2	c.456C>T (p.Tyr152=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189126G>C	CA387461108	GJB2	c.456C>G (p.Tyr152Ter)	ClinVar dbSNP gnomAD v4
13	g.20189126G=	CA2077139170	GJB2	c.456C= (p.Tyr152=)
13	g.20189126G>T	CA261651	GJB2	c.456C>A (p.Tyr152Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189127T>A	CA387461109	GJB2	c.455A>T (p.Tyr152Phe)	gnomAD v4
13	g.20189127T>C	CA387461110	GJB2	c.455A>G (p.Tyr152Cys)
13	g.20189127T>G	CA387461111	GJB2	c.455A>C (p.Tyr152Ser)
13	g.20189128A=	CA2077139176	GJB2	c.454T= (p.Tyr152=)
13	g.20189128A>C	CA387461112	GJB2	c.454T>G (p.Tyr152Asp)	dbSNP
13	g.20189128A>G	CA387461113	GJB2	c.454T>C (p.Tyr152His)	gnomAD v4
13	g.20189128A>T	CA387461114	GJB2	c.454T>A (p.Tyr152Asn)
13	g.20189129C>A	CA387461115	GJB2	c.453G>T (p.Met151Ile)
13	g.20189129C=	CA2077139179	GJB2	c.453G= (p.Met151=)
13	g.20189129C>G	CA387461116	GJB2	c.453G>C (p.Met151Ile)
13	g.20189129C>T	CA6904264	GJB2	c.453G>A (p.Met151Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189130A=	CA2077139183	GJB2	c.452T= (p.Met151=)
13	g.20189130A>C	CA387461117	GJB2	c.452T>G (p.Met151Arg)
13	g.20189130A>G	CA6904265	GJB2	c.452T>C (p.Met151Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189130A>T	CA387461118	GJB2	c.452T>A (p.Met151Lys)
13	g.20189131T>A	CA387461119	GJB2	c.451A>T (p.Met151Leu)	dbSNP gnomAD v2 gnomAD v4
13	g.20189131T>C	CA387461120	GJB2	c.451A>G (p.Met151Val)	dbSNP gnomAD v4
13	g.20189131T>G	CA387461121	GJB2	c.451A>C (p.Met151Leu)
13	g.20189131T=	CA2077139186	GJB2	c.451A= (p.Met151=)
13	g.20189132G>A	CA483153951	GJB2	c.450C>T (p.Phe150=)	gnomAD v4
13	g.20189132G>C	CA387461123	GJB2	c.450C>G (p.Phe150Leu)
13	g.20189132G>T	CA387461122	GJB2	c.450C>A (p.Phe150Leu)	COSMIC
13	g.20189132_20189151del	CA2695217664	GJB2	c.431_450del (p.Val144AspfsTer?)
13	g.20189133A=	CA2077139188	GJB2	c.449T= (p.Phe150=)
13	g.20189133A>C	CA387461124	GJB2	c.449T>G (p.Phe150Cys)
13	g.20189133A>G	CA387461125	GJB2	c.449T>C (p.Phe150Ser)
13	g.20189133A>T	CA387461126	GJB2	c.449T>A (p.Phe150Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189134del	CA2580086789	GJB2	c.449del (p.Phe150SerfsTer18)	ClinVar
13	g.20189133_20189151del	CA2695217665	GJB2	c.431_449del (p.Val144AlafsTer18)
13	g.20189134A=	CA2077139190	GJB2	c.448T= (p.Phe150=)
13	g.20189134A>C	CA387461127	GJB2	c.448T>G (p.Phe150Val)
13	g.20189134A>G	CA387461128	GJB2	c.448T>C (p.Phe150Leu)
13	g.20189134A>T	CA6904266	GJB2	c.448T>A (p.Phe150Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189135G>A	CA483153952	GJB2	c.447C>T (p.Ala149=)	ClinVar
13	g.20189135G>C	CA483153953	GJB2	c.447C>G (p.Ala149=)
13	g.20189135G>T	CA483153954	GJB2	c.447C>A (p.Ala149=)	ClinVar dbSNP
13	g.20189136G>A	CA387461129	GJB2	c.446C>T (p.Ala149Val)	gnomAD v4
13	g.20189136G>C	CA387461131	GJB2	c.446C>G (p.Ala149Gly)
13	g.20189136G>T	CA387461130	GJB2	c.446C>A (p.Ala149Asp)	ClinVar dbSNP
13	g.20189137C>A	CA6904267	GJB2	c.445G>T (p.Ala149Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189137C=	CA2077139196	GJB2	c.445G= (p.Ala149=)
13	g.20189137C>G	CA387461132	GJB2	c.445G>C (p.Ala149Pro)
13	g.20189137C>T	CA134973	GJB2	c.445G>A (p.Ala149Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189138G>A	CA6904268	GJB2	c.444C>T (p.Ala148=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189138G>C	CA483153956	GJB2	c.444C>G (p.Ala148=)	ClinVar dbSNP gnomAD v4
13	g.20189138G=	CA2077139202	GJB2	c.444C= (p.Ala148=)
13	g.20189138G>T	CA483153955	GJB2	c.444C>A (p.Ala148=)	dbSNP gnomAD v2 gnomAD v4
13	g.20189139del	CA2695217666	GJB2	c.444del (p.Ala149ProfsTer19)
13	g.20189139G>A	CA387461133	GJB2	c.443C>T (p.Ala148Val)	COSMIC
13	g.20189139G>C	CA387461134	GJB2	c.443C>G (p.Ala148Gly)
13	g.20189139G>T	CA387461135	GJB2	c.443C>A (p.Ala148Asp)
13	g.20189140C>A	CA387461136	GJB2	c.442G>T (p.Ala148Ser)	COSMIC
13	g.20189140C>G	CA387461137	GJB2	c.442G>C (p.Ala148Pro)
13	g.20189140C>T	CA387461138	GJB2	c.442G>A (p.Ala148Thr)
13	g.20189141T>A	CA387461139	GJB2	c.441A>T (p.Glu147Asp)
13	g.20189141T>C	CA483153957	GJB2	c.441A>G (p.Glu147=)	ClinVar
13	g.20189141T>G	CA387461140	GJB2	c.441A>C (p.Glu147Asp)
13	g.20189142T>A	CA387461143	GJB2	c.440A>T (p.Glu147Val)
13	g.20189142T>C	CA387461142	GJB2	c.440A>G (p.Glu147Gly)	ClinVar dbSNP
13	g.20189142T>G	CA387461141	GJB2	c.440A>C (p.Glu147Ala)
13	g.20189142T=	CA2077139207	GJB2	c.440A= (p.Glu147=)
13	g.20189143C>A	CA387461145	GJB2	c.439G>T (p.Glu147Ter)
13	g.20189143C=	CA2077139213	GJB2	c.439G= (p.Glu147=)
13	g.20189143C>G	CA387461144	GJB2	c.439G>C (p.Glu147Gln)
13	g.20189143C>T	CA6904269	GJB2	c.439G>A (p.Glu147Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189144G>A	CA6904270	GJB2	c.438C>T (p.Phe146=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189144G>C	CA387461147	GJB2	c.438C>G (p.Phe146Leu)	COSMIC
13	g.20189144G=	CA2077139219	GJB2	c.438C= (p.Phe146=)
13	g.20189144G>T	CA387461146	GJB2	c.438C>A (p.Phe146Leu)
13	g.20189145A>C	CA387461148	GJB2	c.437T>G (p.Phe146Cys)
13	g.20189145A>G	CA387461149	GJB2	c.437T>C (p.Phe146Ser)
13	g.20189145A>T	CA387461150	GJB2	c.437T>A (p.Phe146Tyr)
13	g.20189146A>C	CA387461151	GJB2	c.436T>G (p.Phe146Val)
13	g.20189146A>G	CA387461152	GJB2	c.436T>C (p.Phe146Leu)
13	g.20189146A>T	CA387461153	GJB2	c.436T>A (p.Phe146Ile)
13	g.20189147_20189148del	CA2695217667	GJB2	c.435_436del (p.Phe146ArgfsTer?)
13	g.20189146_20189149delinsAGAT	CA2077139221	GJB2	c.433_436delinsATCT (p.Ile145=)
13	g.20189147G>A	CA483153958	GJB2	c.435C>T (p.Ile145=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189147G>C	CA387461154	GJB2	c.435C>G (p.Ile145Met)
13	g.20189147G=	CA2077139228	GJB2	c.435C= (p.Ile145=)
13	g.20189147G>T	CA483153959	GJB2	c.435C>A (p.Ile145=)
13	g.20189149_20189151del	CA246460156	GJB2	c.433_435del (p.Ile145del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189148A>C	CA387461155	GJB2	c.434T>G (p.Ile145Ser)
13	g.20189148A>G	CA387461156	GJB2	c.434T>C (p.Ile145Thr)
13	g.20189148A>T	CA387461157	GJB2	c.434T>A (p.Ile145Asn)
13	g.20189149T>A	CA387461158	GJB2	c.433A>T (p.Ile145Phe)
13	g.20189149T>C	CA387461159	GJB2	c.433A>G (p.Ile145Val)
13	g.20189149T>G	CA387461160	GJB2	c.433A>C (p.Ile145Leu)
13	g.20189150G>A	CA483153960	GJB2	c.432C>T (p.Val144=)	ClinVar
13	g.20189150G>C	CA483153961	GJB2	c.432C>G (p.Val144=)
13	g.20189150G>T	CA483153962	GJB2	c.432C>A (p.Val144=)	ClinVar gnomAD v4
13	g.20189151A>C	CA387461163	GJB2	c.431T>G (p.Val144Gly)
13	g.20189151A>G	CA387461162	GJB2	c.431T>C (p.Val144Ala)
13	g.20189151A>T	CA387461161	GJB2	c.431T>A (p.Val144Asp)
13	g.20189152C>A	CA387461164	GJB2	c.430G>T (p.Val144Phe)
13	g.20189152C=	CA2077139234	GJB2	c.430G= (p.Val144=)
13	g.20189152C>G	CA387461165	GJB2	c.430G>C (p.Val144Leu)	gnomAD v4
13	g.20189152C>T	CA387461166	GJB2	c.430G>A (p.Val144Ile)	dbSNP
13	g.20189153C>A	CA483153963	GJB2	c.429G>T (p.Arg143=)	ClinVar dbSNP gnomAD v4
13	g.20189153C>G	CA483153964	GJB2	c.429G>C (p.Arg143=)
13	g.20189153C>T	CA483153965	GJB2	c.429G>A (p.Arg143=)	gnomAD v4
13	g.20189154C>A	CA387461167	GJB2	c.428G>T (p.Arg143Leu)	gnomAD v4
13	g.20189154C=	CA2077139238	GJB2	c.428G= (p.Arg143=)
13	g.20189154C>G	CA387461168	GJB2	c.428G>C (p.Arg143Pro)
13	g.20189154C>T	CA257677	GJB2	c.428G>A (p.Arg143Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
13	g.20189155G>A	CA172234	GJB2	c.427C>T (p.Arg143Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189155G>C	CA387461169	GJB2	c.427C>G (p.Arg143Gly)
13	g.20189155G=	CA2077139242	GJB2	c.427C= (p.Arg143=)
13	g.20189155G>T	CA483153966	GJB2	c.427C>A (p.Arg143=)
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)

Number of alleles fetched