Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189476G>A	CA387461950	GJB2	c.106C>T (p.Leu36Phe)	COSMIC
13	g.20189476G>C	CA387461952	GJB2	c.106C>G (p.Leu36Val)
13	g.20189476G>T	CA387461953	GJB2	c.106C>A (p.Leu36Ile)
13	g.20189476_20189505dup	CA222248	GJB2	c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle)	ClinVar dbSNP
13	g.20189477G>A	CA483153910	GJB2	c.105C>T (p.Ile35=)
13	g.20189477G>C	CA387461955	GJB2	c.105C>G (p.Ile35Met)
13	g.20189477G>T	CA483153911	GJB2	c.105C>A (p.Ile35=)
13	g.20189477_20189483delinsGATCATA	CA2077140383	GJB2	c.99_105delinsTATGATC (p.Ile33=)
13	g.20189478A=	CA2077140387	GJB2	c.104T= (p.Ile35=)
13	g.20189478A>C	CA6904320	GJB2	c.104T>G (p.Ile35Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189478A>G	CA387461957	GJB2	c.104T>C (p.Ile35Thr)
13	g.20189478A>T	CA387461959	GJB2	c.104T>A (p.Ile35Asn)
13	g.20189480_20189485del	CA6904319	GJB2	c.99_104del (p.Met34_Ile35del)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189479T>A	CA387461961	GJB2	c.103A>T (p.Ile35Phe)
13	g.20189479T>C	CA387461963	GJB2	c.103A>G (p.Ile35Val)
13	g.20189479T>G	CA387461964	GJB2	c.103A>C (p.Ile35Leu)
13	g.20189480C>A	CA387461966	GJB2	c.102G>T (p.Met34Ile)
13	g.20189480C>G	CA387461968	GJB2	c.102G>C (p.Met34Ile)
13	g.20189480C>T	CA387461969	GJB2	c.102G>A (p.Met34Ile)
13	g.20189481A=	CA2077140396	GJB2	c.101T= (p.Met34=)
13	g.20189481A>C	CA261633	GJB2	c.101T>G (p.Met34Arg)	ClinVar dbSNP
13	g.20189481A>G	CA172206	GJB2	c.101T>C (p.Met34Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189481A>T	CA387461971	GJB2	c.101T>A (p.Met34Lys)
13	g.20189482T>A	CA6904321	GJB2	c.100A>T (p.Met34Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189482T>C	CA387461975	GJB2	c.100A>G (p.Met34Val)
13	g.20189482T>G	CA387461977	GJB2	c.100A>C (p.Met34Leu)
13	g.20189482T=	CA2077140404	GJB2	c.100A= (p.Met34=)
13	g.20189482_20189483delinsTA	CA2077140405	GJB2	c.99_100delinsTA (p.Ile33=)
13	g.20189483A>C	CA387461978	GJB2	c.99T>G (p.Ile33Met)
13	g.20189483A>G	CA483153918	GJB2	c.99T>C (p.Ile33=)
13	g.20189483A>T	CA483153919	GJB2	c.99T>A (p.Ile33=)	gnomAD v4
13	g.20189484del	CA608984158	GJB2	c.99del (p.Met34Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189484A=	CA2077140410	GJB2	c.98T= (p.Ile33=)
13	g.20189484A>C	CA387461981	GJB2	c.98T>G (p.Ile33Ser)
13	g.20189484A>G	CA246460935	GJB2	c.98T>C (p.Ile33Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189484A>T	CA387461986	GJB2	c.98T>A (p.Ile33Asn)
13	g.20189485T>A	CA387461988	GJB2	c.97A>T (p.Ile33Phe)
13	g.20189485T>C	CA387461989	GJB2	c.97A>G (p.Ile33Val)
13	g.20189485T>G	CA387461991	GJB2	c.97A>C (p.Ile33Leu)
13	g.20189486G>A	CA483153920	GJB2	c.96C>T (p.Arg32=)
13	g.20189486G>C	CA483153921	GJB2	c.96C>G (p.Arg32=)
13	g.20189486G>T	CA483153922	GJB2	c.96C>A (p.Arg32=)
13	g.20189487C>A	CA6904322	GJB2	c.95G>T (p.Arg32Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189487C=	CA2077140417	GJB2	c.95G= (p.Arg32=)
13	g.20189487C>G	CA387461993	GJB2	c.95G>C (p.Arg32Pro)	dbSNP
13	g.20189487C>T	CA261654	GJB2	c.95G>A (p.Arg32His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189488G>A	CA273921	GJB2	c.94C>T (p.Arg32Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189488G>C	CA387461994	GJB2	c.94C>G (p.Arg32Gly)
13	g.20189488G=	CA2077140422	GJB2	c.94C= (p.Arg32=)
13	g.20189488G>T	CA387461995	GJB2	c.94C>A (p.Arg32Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189488_20189489delinsGA	CA2077140423	GJB2	c.93_94delinsTC (p.Phe31=)
13	g.20189489A>C	CA387461996	GJB2	c.93T>G (p.Phe31Leu)
13	g.20189489A>G	CA483153923	GJB2	c.93T>C (p.Phe31=)
13	g.20189489A>T	CA387461999	GJB2	c.93T>A (p.Phe31Leu)
13	g.20189493del	CA2077140427	GJB2	c.93del (p.Arg32AlafsTer3)	ClinVar dbSNP gnomAD v4
13	g.20189490A>C	CA387462000	GJB2	c.92T>G (p.Phe31Cys)
13	g.20189490A>G	CA387462008	GJB2	c.92T>C (p.Phe31Ser)
13	g.20189490A>T	CA387462002	GJB2	c.92T>A (p.Phe31Tyr)
13	g.20189491A>C	CA387462010	GJB2	c.91T>G (p.Phe31Val)
13	g.20189491A>G	CA387462012	GJB2	c.91T>C (p.Phe31Leu)
13	g.20189491A>T	CA387462013	GJB2	c.91T>A (p.Phe31Ile)
13	g.20189492A>C	CA387462014	GJB2	c.90T>G (p.Ile30Met)
13	g.20189492A>G	CA483153927	GJB2	c.90T>C (p.Ile30=)
13	g.20189492A>T	CA483153928	GJB2	c.90T>A (p.Ile30=)
13	g.20189493A>C	CA387462015	GJB2	c.89T>G (p.Ile30Ser)
13	g.20189493A>G	CA387462017	GJB2	c.89T>C (p.Ile30Thr)	ClinVar
13	g.20189493A>T	CA387462019	GJB2	c.89T>A (p.Ile30Asn)
13	g.20189494del	CA2695217726	GJB2	c.88del (p.Ile30PhefsTer5)
13	g.20189494T>A	CA387462020	GJB2	c.88A>T (p.Ile30Phe)	ClinVar
13	g.20189494T>C	CA6904323	GJB2	c.88A>G (p.Ile30Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189494T>G	CA387462022	GJB2	c.88A>C (p.Ile30Leu)
13	g.20189494T=	CA2077140434	GJB2	c.88A= (p.Ile30=)
13	g.20189494_20189497delinsTGAA	CA2077140436	GJB2	c.85_88delinsTTCA (p.Phe29=)
13	g.20189495G>A	CA483153930	GJB2	c.87C>T (p.Phe29=)
13	g.20189495G>C	CA387462024	GJB2	c.87C>G (p.Phe29Leu)
13	g.20189495G>T	CA387462026	GJB2	c.87C>A (p.Phe29Leu)
13	g.20189497_20189499del	CA658653811	GJB2	c.85_87del (p.Phe29del)	ClinVar dbSNP
13	g.20189496A>C	CA387462031	GJB2	c.86T>G (p.Phe29Cys)
13	g.20189496A>G	CA387462030	GJB2	c.86T>C (p.Phe29Ser)
13	g.20189496A>T	CA387462029	GJB2	c.86T>A (p.Phe29Tyr)
13	g.20189497A>C	CA387462033	GJB2	c.85T>G (p.Phe29Val)
13	g.20189497A>G	CA387462034	GJB2	c.85T>C (p.Phe29Leu)
13	g.20189497A>T	CA387462036	GJB2	c.85T>A (p.Phe29Ile)
13	g.20189498G>A	CA483153931	GJB2	c.84C>T (p.Leu28=)
13	g.20189498G>C	CA483153933	GJB2	c.84C>G (p.Leu28=)
13	g.20189498G>T	CA483153935	GJB2	c.84C>A (p.Leu28=)
13	g.20189500_20189502del	CA2697551668	GJB2	c.82_84del (p.Leu28del)	ClinVar
13	g.20189499A>C	CA387462037	GJB2	c.83T>G (p.Leu28Arg)
13	g.20189499A>G	CA387462038	GJB2	c.83T>C (p.Leu28Pro)
13	g.20189499A>T	CA387462039	GJB2	c.83T>A (p.Leu28His)
13	g.20189500G>A	CA387462041	GJB2	c.82C>T (p.Leu28Phe)
13	g.20189500G>C	CA387462043	GJB2	c.82C>G (p.Leu28Val)	ClinVar
13	g.20189500G>T	CA387462045	GJB2	c.82C>A (p.Leu28Ile)
13	g.20189500_20189503delinsTCT	CA2499221955	GJB2	c.79_82delinsAGA (p.Val27ArgfsTer8)	ClinVar dbSNP
13	g.20189501G>A	CA483153937	GJB2	c.81C>T (p.Val27=)
13	g.20189501G>C	CA483153938	GJB2	c.81C>G (p.Val27=)	gnomAD v4
13	g.20189501G>T	CA483153939	GJB2	c.81C>A (p.Val27=)
13	g.20189502A>C	CA387462047	GJB2	c.80T>G (p.Val27Gly)
13	g.20189502A>G	CA387462048	GJB2	c.80T>C (p.Val27Ala)
13	g.20189502A>T	CA387462050	GJB2	c.80T>A (p.Val27Asp)
13	g.20189503C>A	CA387462051	GJB2	c.79G>T (p.Val27Phe)
13	g.20189503C=	CA2077140448	GJB2	c.79G= (p.Val27=)
13	g.20189503C>G	CA387462053	GJB2	c.79G>C (p.Val27Leu)
13	g.20189503C>T	CA134997	GJB2	c.79G>A (p.Val27Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189504G>A	CA6904324	GJB2	c.78C>T (p.Thr26=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189504G>C	CA483153940	GJB2	c.78C>G (p.Thr26=)
13	g.20189504G=	CA2077140457	GJB2	c.78C= (p.Thr26=)
13	g.20189504G>T	CA483153941	GJB2	c.78C>A (p.Thr26=)
13	g.20189505G>A	CA387462056	GJB2	c.77C>T (p.Thr26Ile)	dbSNP gnomAD v3 gnomAD v4
13	g.20189505G>C	CA387462055	GJB2	c.77C>G (p.Thr26Ser)
13	g.20189505G=	CA2077140461	GJB2	c.77C= (p.Thr26=)
13	g.20189505G>T	CA387462057	GJB2	c.77C>A (p.Thr26Asn)
13	g.20189506del	CA2573149179	GJB2	c.76del (p.Thr26ProfsTer9)	ClinVar dbSNP
13	g.20189506T>A	CA387462059	GJB2	c.76A>T (p.Thr26Ser)
13	g.20189506T>C	CA387462061	GJB2	c.76A>G (p.Thr26Ala)	dbSNP gnomAD v4
13	g.20189506T>G	CA387462063	GJB2	c.76A>C (p.Thr26Pro)
13	g.20189507G>A	CA483154018	GJB2	c.75C>T (p.Leu25=)
13	g.20189507G>C	CA483154019	GJB2	c.75C>G (p.Leu25=)
13	g.20189507G>T	CA483154020	GJB2	c.75C>A (p.Leu25=)
13	g.20189508A>C	CA387462065	GJB2	c.74T>G (p.Leu25Arg)
13	g.20189508A>G	CA387462066	GJB2	c.74T>C (p.Leu25Pro)
13	g.20189508A>T	CA387462068	GJB2	c.74T>A (p.Leu25His)
13	g.20189509G>A	CA387462069	GJB2	c.73C>T (p.Leu25Phe)	ClinVar dbSNP
13	g.20189509G>C	CA387462070	GJB2	c.73C>G (p.Leu25Val)
13	g.20189509G=	CA2077140465	GJB2	c.73C= (p.Leu25=)
13	g.20189509G>T	CA387462072	GJB2	c.73C>A (p.Leu25Ile)
13	g.20189510C>A	CA387462073	GJB2	c.72G>T (p.Trp24Cys)
13	g.20189510C=	CA2077140470	GJB2	c.72G= (p.Trp24=)
13	g.20189510C>G	CA6904325	GJB2	c.72G>C (p.Trp24Cys)	dbSNP ExAC
13	g.20189510C>T	CA387462076	GJB2	c.72G>A (p.Trp24Ter)	ClinVar dbSNP
13	g.20189511C>A	CA387462081	GJB2	c.71G>T (p.Trp24Leu)
13	g.20189511C=	CA2077140478	GJB2	c.71G= (p.Trp24=)
13	g.20189511C>G	CA387462079	GJB2	c.71G>C (p.Trp24Ser)	gnomAD v4
13	g.20189511C>T	CA172240	GJB2	c.71G>A (p.Trp24Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189512A>C	CA387462083	GJB2	c.70T>G (p.Trp24Gly)
13	g.20189512A>G	CA387462085	GJB2	c.70T>C (p.Trp24Arg)
13	g.20189512A>T	CA387462087	GJB2	c.70T>A (p.Trp24Arg)
13	g.20189513G>A	CA483154022	GJB2	c.69C>T (p.Ile23=)	ClinVar
13	g.20189513G>C	CA387462089	GJB2	c.69C>G (p.Ile23Met)	dbSNP gnomAD v2 gnomAD v4
13	g.20189513G=	CA2077140486	GJB2	c.69C= (p.Ile23=)
13	g.20189513G>T	CA483154021	GJB2	c.69C>A (p.Ile23=)
13	g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	CA2077140484	GJB2	c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=)
13	g.20189514A>C	CA387462091	GJB2	c.68T>G (p.Ile23Ser)
13	g.20189514A>G	CA387462092	GJB2	c.68T>C (p.Ile23Thr)
13	g.20189514A>T	CA387462093	GJB2	c.68T>A (p.Ile23Asn)
13	g.20189514_20189551del	CA261644	GJB2	c.31_68del (p.Gly11LeufsTer24)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189515T>A	CA387462096	GJB2	c.67A>T (p.Ile23Phe)
13	g.20189515T>C	CA387462098	GJB2	c.67A>G (p.Ile23Val)
13	g.20189515T>G	CA387462099	GJB2	c.67A>C (p.Ile23Leu)
13	g.20189516C>A	CA10584002	GJB2	c.66G>T (p.Lys22Asn)	ClinVar dbSNP
13	g.20189516C=	CA2077140498	GJB2	c.66G= (p.Lys22=)
13	g.20189516C>G	CA387462101	GJB2	c.66G>C (p.Lys22Asn)
13	g.20189516C>T	CA483154023	GJB2	c.66G>A (p.Lys22=)	ClinVar dbSNP gnomAD v4
13	g.20189517T>A	CA387462104	GJB2	c.65A>T (p.Lys22Met)
13	g.20189517T>C	CA387462105	GJB2	c.65A>G (p.Lys22Arg)
13	g.20189517T>G	CA387462107	GJB2	c.65A>C (p.Lys22Thr)
13	g.20189519del	CA2575364825	GJB2	c.65del (p.Lys22ArgfsTer13)
13	g.20189518T>A	CA387462113	GJB2	c.64A>T (p.Lys22Ter)
13	g.20189518T>C	CA387462115	GJB2	c.64A>G (p.Lys22Glu)
13	g.20189518T>G	CA387462117	GJB2	c.64A>C (p.Lys22Gln)
13	g.20189519T>A	CA483154024	GJB2	c.63A>T (p.Gly21=)
13	g.20189519T>C	CA483154026	GJB2	c.63A>G (p.Gly21=)
13	g.20189519T>G	CA483154025	GJB2	c.63A>C (p.Gly21=)
13	g.20189520_20189530del	CA2499221956	GJB2	c.53_63del (p.Thr18LysfsTer26)	ClinVar dbSNP
13	g.20189519_20189531delinsTCCAATGCTGGTG	CA2077140504	GJB2	c.51_63delinsCACCAGCATTGGA (p.Ser17=)
13	g.20189520C>A	CA387462123	GJB2	c.62G>T (p.Gly21Val)
13	g.20189520C=	CA2077140512	GJB2	c.62G= (p.Gly21=)
13	g.20189520C>G	CA387462119	GJB2	c.62G>C (p.Gly21Ala)
13	g.20189520C>T	CA387462122	GJB2	c.62G>A (p.Gly21Glu)	dbSNP COSMIC
13	g.20189520_20189523del	CA2622252307	GJB2	c.59_62del (p.Ile20LysfsTer14)	gnomAD v4
13	g.20189520_20189531delinsT	CA10575530	GJB2	c.51_62delinsA (p.Thr18LysfsTer26)	ClinVar dbSNP
13	g.20189521C>A	CA387462125	GJB2	c.61G>T (p.Gly21Ter)
13	g.20189521C>G	CA387462127	GJB2	c.61G>C (p.Gly21Arg)
13	g.20189521C>T	CA387462128	GJB2	c.61G>A (p.Gly21Arg)	dbSNP
13	g.20189522A=	CA2077140514	GJB2	c.60T= (p.Ile20=)
13	g.20189522A>C	CA6904326	GJB2	c.60T>G (p.Ile20Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189522A>G	CA483154027	GJB2	c.60T>C (p.Ile20=)
13	g.20189522A>T	CA483154028	GJB2	c.60T>A (p.Ile20=)
13	g.20189523A=	CA2077140519	GJB2	c.59T= (p.Ile20=)
13	g.20189523A>C	CA387462131	GJB2	c.59T>G (p.Ile20Ser)
13	g.20189523A>G	CA16041595	GJB2	c.59T>C (p.Ile20Thr)	ClinVar dbSNP gnomAD v4
13	g.20189523A>T	CA387462132	GJB2	c.59T>A (p.Ile20Asn)
13	g.20189524T>A	CA387462133	GJB2	c.58A>T (p.Ile20Phe)
13	g.20189524T>C	CA387462135	GJB2	c.58A>G (p.Ile20Val)
13	g.20189524T>G	CA387462136	GJB2	c.58A>C (p.Ile20Leu)
13	g.20189525G>A	CA483154029	GJB2	c.57C>T (p.Ser19=)	dbSNP
13	g.20189525G>C	CA387462138	GJB2	c.57C>G (p.Ser19Arg)
13	g.20189525G=	CA2077140521	GJB2	c.57C= (p.Ser19=)
13	g.20189525G>T	CA387462140	GJB2	c.57C>A (p.Ser19Arg)
13	g.20189526_20189532del	CA2622252308	GJB2	c.51_57del (p.Thr18LeufsTer15)	gnomAD v4
13	g.20189526C>A	CA6904327	GJB2	c.56G>T (p.Ser19Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189526C=	CA2077140524	GJB2	c.56G= (p.Ser19=)
13	g.20189526C>G	CA342005	GJB2	c.56G>C (p.Ser19Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13	g.20189526C>T	CA387462144	GJB2	c.56G>A (p.Ser19Asn)
13	g.20189527T>A	CA387462145	GJB2	c.55A>T (p.Ser19Cys)
13	g.20189527T>C	CA387462146	GJB2	c.55A>G (p.Ser19Gly)
13	g.20189527T>G	CA387462147	GJB2	c.55A>C (p.Ser19Arg)
13	g.20189528G>A	CA483154032	GJB2	c.54C>T (p.Thr18=)
13	g.20189528G>C	CA483154031	GJB2	c.54C>G (p.Thr18=)	gnomAD v4
13	g.20189528G>T	CA483154030	GJB2	c.54C>A (p.Thr18=)
13	g.20189529G>A	CA387462151	GJB2	c.53C>T (p.Thr18Ile)
13	g.20189529G>C	CA387462150	GJB2	c.53C>G (p.Thr18Ser)	ClinVar dbSNP
13	g.20189529G=	CA2077140530	GJB2	c.53C= (p.Thr18=)
13	g.20189529G>T	CA387462149	GJB2	c.53C>A (p.Thr18Asn)
13	g.20189530T>A	CA387462153	GJB2	c.52A>T (p.Thr18Ser)
13	g.20189530T>C	CA387462155	GJB2	c.52A>G (p.Thr18Ala)
13	g.20189530T>G	CA387462157	GJB2	c.52A>C (p.Thr18Pro)
13	g.20189531G>A	CA483154033	GJB2	c.51C>T (p.Ser17=)	ClinVar dbSNP
13	g.20189531G>C	CA483154034	GJB2	c.51C>G (p.Ser17=)
13	g.20189531G=	CA2077140533	GJB2	c.51C= (p.Ser17=)
13	g.20189531G>T	CA483154035	GJB2	c.51C>A (p.Ser17=)	ClinVar dbSNP
13	g.20189531_20189533delinsGGA	CA2077140535	GJB2	c.49_51delinsTCC (p.Ser17=)
13	g.20189532_20189534del	CA912980100	GJB2	c.49_51del (p.Ser17del)
13	g.20189532G>A	CA127029	GJB2	c.50C>T (p.Ser17Phe)	ClinVar dbSNP
13	g.20189532G>C	CA185218	GJB2	c.50C>G (p.Ser17Cys)	ClinVar dbSNP
13	g.20189532G=	CA2077140543	GJB2	c.50C= (p.Ser17=)
13	g.20189532G>T	CA387462161	GJB2	c.50C>A (p.Ser17Tyr)
13	g.20189533_20189534del	CA658823500	GJB2	c.49_50del (p.Ser17HisfsTer30)	ClinVar dbSNP
13	g.20189533_20189536del	CA2622252310	GJB2	c.47_50del (p.His16ProfsTer18)	gnomAD v4
13	g.20189533A>C	CA387462167	GJB2	c.49T>G (p.Ser17Ala)
13	g.20189533A>G	CA387462163	GJB2	c.49T>C (p.Ser17Pro)
13	g.20189533A>T	CA387462165	GJB2	c.49T>A (p.Ser17Thr)
13	g.20189534G>A	CA483154036	GJB2	c.48C>T (p.His16=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189534G>C	CA387462169	GJB2	c.48C>G (p.His16Gln)
13	g.20189534G=	CA2077140549	GJB2	c.48C= (p.His16=)
13	g.20189534G>T	CA387462170	GJB2	c.48C>A (p.His16Gln)
13	g.20189535T>A	CA387462172	GJB2	c.47A>T (p.His16Leu)
13	g.20189535T>C	CA387462174	GJB2	c.47A>G (p.His16Arg)
13	g.20189535T>G	CA387462175	GJB2	c.47A>C (p.His16Pro)	gnomAD v4
13	g.20189536G>A	CA6904328	GJB2	c.46C>T (p.His16Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189536G>C	CA387462176	GJB2	c.46C>G (p.His16Asp)
13	g.20189536G=	CA2077140554	GJB2	c.46C= (p.His16=)
13	g.20189536G>T	CA387462178	GJB2	c.46C>A (p.His16Asn)	COSMIC
13	g.20189536_20189550delinsGTTTGTTCACACCCC	CA2077140555	GJB2	c.32_46delinsGGGGTGTGAACAAAC (p.Gly11=)
13	g.20189537T>A	CA387462181	GJB2	c.45A>T (p.Lys15Asn)
13	g.20189537T>C	CA483154037	GJB2	c.45A>G (p.Lys15=)	dbSNP
13	g.20189537T>G	CA387462182	GJB2	c.45A>C (p.Lys15Asn)
13	g.20189537T=	CA2077140561	GJB2	c.45A= (p.Lys15=)
13	g.20189537_20189550del	CA608984146	GJB2	c.32_45del (p.Gly11AlafsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189538T>A	CA387462185	GJB2	c.44A>T (p.Lys15Ile)
13	g.20189538T>C	CA387462187	GJB2	c.44A>G (p.Lys15Arg)
13	g.20189538T>G	CA261649	GJB2	c.44A>C (p.Lys15Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189538T=	CA2077109877	GJB2	c.44A= (p.Lys15=)
13	g.20189538_20189551del	CA2695217727	GJB2	c.31_44del (p.Gly11ThrfsTer?)
13	g.20189539T>A	CA387462189	GJB2	c.43A>T (p.Lys15Ter)
13	g.20189539T>C	CA387462191	GJB2	c.43A>G (p.Lys15Glu)
13	g.20189539T>G	CA387462192	GJB2	c.43A>C (p.Lys15Gln)
13	g.20189540G>A	CA483154038	GJB2	c.42C>T (p.Asn14=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189540G>C	CA387462194	GJB2	c.42C>G (p.Asn14Lys)
13	g.20189540G=	CA2077109907	GJB2	c.42C= (p.Asn14=)
13	g.20189540G>T	CA387462196	GJB2	c.42C>A (p.Asn14Lys)
13	g.20189541T>A	CA387462198	GJB2	c.41A>T (p.Asn14Ile)
13	g.20189541T>C	CA387462199	GJB2	c.41A>G (p.Asn14Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189541T>G	CA387462201	GJB2	c.41A>C (p.Asn14Thr)
13	g.20189542dup	CA696363988	GJB2	c.41dup (p.Asn14LysfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189542T>A	CA387462203	GJB2	c.40A>T (p.Asn14Tyr)
13	g.20189542T>C	CA387462206	GJB2	c.40A>G (p.Asn14Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189542T>G	CA387462205	GJB2	c.40A>C (p.Asn14His)
13	g.20189542T=	CA2077109926	GJB2	c.40A= (p.Asn14=)
13	g.20189543C>A	CA483154039	GJB2	c.39G>T (p.Val13=)
13	g.20189543C=	CA2077109935	GJB2	c.39G= (p.Val13=)
13	g.20189543C>G	CA483154040	GJB2	c.39G>C (p.Val13=)
13	g.20189543C>T	CA483154041	GJB2	c.39G>A (p.Val13=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189544A=	CA2077109938	GJB2	c.38T= (p.Val13=)
13	g.20189544A>C	CA387462207	GJB2	c.38T>G (p.Val13Gly)	ClinVar dbSNP
13	g.20189544A>G	CA387462209	GJB2	c.38T>C (p.Val13Ala)
13	g.20189544A>T	CA387462211	GJB2	c.38T>A (p.Val13Glu)
13	g.20189544_20189545delinsAC	CA2077109941	GJB2	c.37_38delinsGT (p.Val13=)
13	g.20189545del	CA919221233	GJB2	c.37del (p.Val13Ter)	dbSNP
13	g.20189545C>A	CA387462213	GJB2	c.37G>T (p.Val13Leu)
13	g.20189545C=	CA2077109952	GJB2	c.37G= (p.Val13=)
13	g.20189545C>G	CA387462214	GJB2	c.37G>C (p.Val13Leu)
13	g.20189545C>T	CA6904329	GJB2	c.37G>A (p.Val13Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189546A>C	CA483154042	GJB2	c.36T>G (p.Gly12=)	ClinVar dbSNP gnomAD v4
13	g.20189546A>G	CA483154043	GJB2	c.36T>C (p.Gly12=)	gnomAD v4
13	g.20189546A>T	CA483154044	GJB2	c.36T>A (p.Gly12=)
13	g.20189546dup	CA2695217728	GJB2	c.36dup (p.Val13CysfsTer?)
13	g.20189546_20189547delinsAC	CA2077109957	GJB2	c.35_36delinsGT (p.Gly12=)
13	g.20189547C>A	CA172228	GJB2	c.35G>T (p.Gly12Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189547C=	CA2018046961	GJB2	c.35G= (p.Gly12=)
13	g.20189547C>G	CA387462219	GJB2	c.35G>C (p.Gly12Ala)
13	g.20189547C>T	CA6904330	GJB2	c.35G>A (p.Gly12Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189552dup	CA222247	GJB2	c.35dup (p.Val13CysfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189552del	CA127023	GJB2	c.35del (p.Gly12ValfsTer2)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189548C>A	CA172224	GJB2	c.34G>T (p.Gly12Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189548C=	CA2077109991	GJB2	c.34G= (p.Gly12=)
13	g.20189548C>G	CA127028	GJB2	c.34G>C (p.Gly12Arg)	ClinVar dbSNP
13	g.20189548C>T	CA387462222	GJB2	c.34G>A (p.Gly12Ser)
13	g.20189549C>A	CA6904331	GJB2	c.33G>T (p.Gly11=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189549C=	CA2077110002	GJB2	c.33G= (p.Gly11=)
13	g.20189549C>G	CA483154045	GJB2	c.33G>C (p.Gly11=)
13	g.20189549C>T	CA483154046	GJB2	c.33G>A (p.Gly11=)
13	g.20189550C>A	CA387462224	GJB2	c.32G>T (p.Gly11Val)
13	g.20189550C>G	CA387462225	GJB2	c.32G>C (p.Gly11Ala)
13	g.20189550C>T	CA387462226	GJB2	c.32G>A (p.Gly11Glu)
13	g.20189551C>A	CA387462228	GJB2	c.31G>T (p.Gly11Trp)
13	g.20189551C>G	CA387462229	GJB2	c.31G>C (p.Gly11Arg)
13	g.20189551C>T	CA387462231	GJB2	c.31G>A (p.Gly11Arg)	COSMIC
13	g.20189552C>A	CA483154047	GJB2	c.30G>T (p.Leu10=)
13	g.20189552C=	CA2077110008	GJB2	c.30G= (p.Leu10=)
13	g.20189552C>G	CA483154048	GJB2	c.30G>C (p.Leu10=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20189552C>T	CA483154049	GJB2	c.30G>A (p.Leu10=)	dbSNP
13	g.20189553del	CA645587649	GJB2	c.29del (p.Leu10ArgfsTer4)	COSMIC
13	g.20189553A=	CA2077110012	GJB2	c.29T= (p.Leu10=)
13	g.20189553A>C	CA387462232	GJB2	c.29T>G (p.Leu10Arg)
13	g.20189553A>G	CA387462233	GJB2	c.29T>C (p.Leu10Pro)	ClinVar dbSNP
13	g.20189553A>T	CA387462234	GJB2	c.29T>A (p.Leu10Gln)
13	g.20189553_20189554delinsAG	CA2077110011	GJB2	c.28_29delinsCT (p.Leu10=)
13	g.20189553_20189554delinsCA	CA1139532488	GJB2	c.28_29delinsTG (p.Leu10Trp)
13	g.20189554G>A	CA483154050	GJB2	c.28C>T (p.Leu10=)
13	g.20189554G>C	CA387462235	GJB2	c.28C>G (p.Leu10Val)
13	g.20189554G>T	CA387462236	GJB2	c.28C>A (p.Leu10Met)	COSMIC
13	g.20189555del	CA608984147	GJB2	c.28del (p.Leu10TrpfsTer4)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189555G>A	CA483154051	GJB2	c.27C>T (p.Ile9=)
13	g.20189555G>C	CA387462238	GJB2	c.27C>G (p.Ile9Met)
13	g.20189555G=	CA2077110015	GJB2	c.27C= (p.Ile9=)
13	g.20189555G>T	CA483154052	GJB2	c.27C>A (p.Ile9=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189556A>C	CA387462245	GJB2	c.26T>G (p.Ile9Ser)
13	g.20189556A>G	CA387462241	GJB2	c.26T>C (p.Ile9Thr)	gnomAD v4
13	g.20189556A>T	CA387462247	GJB2	c.26T>A (p.Ile9Asn)	gnomAD v4
13	g.20189557T>A	CA387462249	GJB2	c.25A>T (p.Ile9Phe)
13	g.20189557T>C	CA387462251	GJB2	c.25A>G (p.Ile9Val)	gnomAD v4
13	g.20189557T>G	CA387462250	GJB2	c.25A>C (p.Ile9Leu)
13	g.20189558C>A	CA483154053	GJB2	c.24G>T (p.Thr8=)	gnomAD v4
13	g.20189558C=	CA2077110018	GJB2	c.24G= (p.Thr8=)
13	g.20189558C>G	CA483154054	GJB2	c.24G>C (p.Thr8=)	ClinVar dbSNP gnomAD v4
13	g.20189558C>T	CA274828	GJB2	c.24G>A (p.Thr8=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189558_20189559insT	CA2695217729	GJB2	c.23_24insA (p.Ile9AspfsTer?)
13	g.20189559G>A	CA6904332	GJB2	c.23C>T (p.Thr8Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13	g.20189559G>C	CA387462252	GJB2	c.23C>G (p.Thr8Arg)
13	g.20189559G=	CA2077110028	GJB2	c.23C= (p.Thr8=)
13	g.20189559G>T	CA387462253	GJB2	c.23C>A (p.Thr8Lys)
13	g.20189560T>A	CA387462254	GJB2	c.22A>T (p.Thr8Ser)
13	g.20189560T>C	CA387462255	GJB2	c.22A>G (p.Thr8Ala)
13	g.20189560T>G	CA387462256	GJB2	c.22A>C (p.Thr8Pro)
13	g.20189561C>A	CA387462257	GJB2	c.21G>T (p.Gln7His)
13	g.20189561C=	CA2077110035	GJB2	c.21G= (p.Gln7=)
13	g.20189561C>G	CA387462258	GJB2	c.21G>C (p.Gln7His)
13	g.20189561C>T	CA182152	GJB2	c.21G>A (p.Gln7=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189562T>A	CA387462259	GJB2	c.20A>T (p.Gln7Leu)
13	g.20189562T>C	CA387462260	GJB2	c.20A>G (p.Gln7Arg)
13	g.20189562T>G	CA387462261	GJB2	c.20A>C (p.Gln7Pro)	gnomAD v4
13	g.20189563G>A	CA261641	GJB2	c.19C>T (p.Gln7Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20189563G>C	CA387462262	GJB2	c.19C>G (p.Gln7Glu)
13	g.20189563G=	CA2077110044	GJB2	c.19C= (p.Gln7=)
13	g.20189563G>T	CA387462263	GJB2	c.19C>A (p.Gln7Lys)
13	g.20189564C>A	CA483154055	GJB2	c.18G>T (p.Leu6=)	gnomAD v4
13	g.20189564C>G	CA483154057	GJB2	c.18G>C (p.Leu6=)
13	g.20189564C>T	CA483154056	GJB2	c.18G>A (p.Leu6=)
13	g.20189565A>C	CA387462264	GJB2	c.17T>G (p.Leu6Arg)
13	g.20189565A>G	CA387462265	GJB2	c.17T>C (p.Leu6Pro)
13	g.20189565A>T	CA387462266	GJB2	c.17T>A (p.Leu6Gln)
13	g.20189566G>A	CA483154058	GJB2	c.16C>T (p.Leu6=)
13	g.20189566G>C	CA387462267	GJB2	c.16C>G (p.Leu6Val)
13	g.20189566G>T	CA387462268	GJB2	c.16C>A (p.Leu6Met)
13	g.20189567C>A	CA483154059	GJB2	c.15G>T (p.Thr5=)
13	g.20189567C=	CA2077110051	GJB2	c.15G= (p.Thr5=)
13	g.20189567C>G	CA483154060	GJB2	c.15G>C (p.Thr5=)	ClinVar dbSNP gnomAD v4
13	g.20189567C>T	CA6904333	GJB2	c.15G>A (p.Thr5=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189568G>A	CA6904334	GJB2	c.14C>T (p.Thr5Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189568G>C	CA387462269	GJB2	c.14C>G (p.Thr5Arg)
13	g.20189568G=	CA2077110061	GJB2	c.14C= (p.Thr5=)
13	g.20189568G>T	CA387462270	GJB2	c.14C>A (p.Thr5Lys)
13	g.20189569T>A	CA387462271	GJB2	c.13A>T (p.Thr5Ser)
13	g.20189569T>C	CA387462272	GJB2	c.13A>G (p.Thr5Ala)
13	g.20189569T>G	CA387462273	GJB2	c.13A>C (p.Thr5Pro)
13	g.20189570G>A	CA483154061	GJB2	c.12C>T (p.Gly4=)	COSMIC
13	g.20189570G>C	CA483154062	GJB2	c.12C>G (p.Gly4=)
13	g.20189570G>T	CA483154063	GJB2	c.12C>A (p.Gly4=)
13	g.20189570_20189571delinsGC	CA2077110069	GJB2	c.11_12delinsGC (p.Gly4=)
13	g.20189571C>A	CA6904335	GJB2	c.11G>T (p.Gly4Val)	dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189571C=	CA2077110082	GJB2	c.11G= (p.Gly4=)
13	g.20189571C>G	CA387462274	GJB2	c.11G>C (p.Gly4Ala)
13	g.20189571C>T	CA134947	GJB2	c.11G>A (p.Gly4Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189574del	CA483154064	GJB2	c.11del (p.Gly4AlafsTer10)	ClinVar dbSNP gnomAD v4
13	g.20189572C>A	CA387462275	GJB2	c.10G>T (p.Gly4Cys)
13	g.20189572C=	CA2077110089	GJB2	c.10G= (p.Gly4=)
13	g.20189572C>G	CA387462276	GJB2	c.10G>C (p.Gly4Arg)
13	g.20189572C>T	CA387462277	GJB2	c.10G>A (p.Gly4Ser)	dbSNP gnomAD v3 gnomAD v4
13	g.20189573C>A	CA387462278	GJB2	c.9G>T (p.Trp3Cys)	ClinVar dbSNP
13	g.20189573C=	CA2077110092	GJB2	c.9G= (p.Trp3=)
13	g.20189573C>G	CA387462279	GJB2	c.9G>C (p.Trp3Cys)
13	g.20189573C>T	CA261655	GJB2	c.9G>A (p.Trp3Ter)	ClinVar dbSNP
13	g.20189574C>A	CA387462280	GJB2	c.8G>T (p.Trp3Leu)
13	g.20189574C>G	CA387462281	GJB2	c.8G>C (p.Trp3Ser)	ClinVar
13	g.20189574C>T	CA387462282	GJB2	c.8G>A (p.Trp3Ter)
13	g.20189575A>C	CA387462283	GJB2	c.7T>G (p.Trp3Gly)
13	g.20189575A>G	CA387462284	GJB2	c.7T>C (p.Trp3Arg)
13	g.20189575A>T	CA387462285	GJB2	c.7T>A (p.Trp3Arg)
13	g.20189576dup	CA2695217730	GJB2	c.7dup (p.Trp3LeufsTer?)
13	g.20189576A=	CA2077110104	GJB2	c.6T= (p.Asp2=)
13	g.20189576A>C	CA387462287	GJB2	c.6T>G (p.Asp2Glu)
13	g.20189576A>G	CA483154065	GJB2	c.6T>C (p.Asp2=)	ClinVar dbSNP
13	g.20189576A>T	CA387462286	GJB2	c.6T>A (p.Asp2Glu)

Number of alleles fetched