Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20189440_20189445del	CA2695217722	GJB2	c.138_143del (p.Asp46_Gln48delinsGlu)
13	g.20189440_20189445delinsGCTCAT	CA2077140204	GJB2	c.137_142delinsATGAGC (p.Asp46=)
13	g.20189444_20189448del	CA1139663002	GJB2	c.137_141del (p.Asp46AlafsTer?)	ClinVar dbSNP
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
13	g.20189464C>A	CA387461913	GJB2	c.118G>T (p.Ala40Ser)
13	g.20189464C=	CA2077140336	GJB2	c.118G= (p.Ala40=)
13	g.20189464C>G	CA387461916	GJB2	c.118G>C (p.Ala40Pro)
13	g.20189464C>T	CA6904316	GJB2	c.118G>A (p.Ala40Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20189465A>C	CA483153892	GJB2	c.117T>G (p.Ala39=)
13	g.20189465A>G	CA483153893	GJB2	c.117T>C (p.Ala39=)
13	g.20189465A>T	CA483153894	GJB2	c.117T>A (p.Ala39=)
13	g.20189466G>A	CA387461917	GJB2	c.116C>T (p.Ala39Val)
13	g.20189466G>C	CA387461918	GJB2	c.116C>G (p.Ala39Gly)
13	g.20189466G>T	CA387461920	GJB2	c.116C>A (p.Ala39Asp)
13	g.20189467C>A	CA387461922	GJB2	c.115G>T (p.Ala39Ser)
13	g.20189467C>G	CA387461924	GJB2	c.115G>C (p.Ala39Pro)
13	g.20189467C>T	CA387461925	GJB2	c.115G>A (p.Ala39Thr)
13	g.20189468C>A	CA483153896	GJB2	c.114G>T (p.Val38=)
13	g.20189468C>G	CA483153897	GJB2	c.114G>C (p.Val38=)
13	g.20189468C>T	CA483153898	GJB2	c.114G>A (p.Val38=)	ClinVar
13	g.20189468_20189471delinsCACA	CA2077140339	GJB2	c.111_114delinsTGTG (p.Val37=)
13	g.20189469A>C	CA387461927	GJB2	c.113T>G (p.Val38Gly)
13	g.20189469A>G	CA387461929	GJB2	c.113T>C (p.Val38Ala)
13	g.20189469A>T	CA387461931	GJB2	c.113T>A (p.Val38Glu)
13	g.20189471_20189473del	CA1139663003	GJB2	c.111_113del (p.Val38del)	ClinVar dbSNP
13	g.20189470C>A	CA387461933	GJB2	c.112G>T (p.Val38Leu)
13	g.20189470C>G	CA387461934	GJB2	c.112G>C (p.Val38Leu)	gnomAD v4
13	g.20189470C>T	CA387461936	GJB2	c.112G>A (p.Val38Met)
13	g.20189471A>C	CA483153902	GJB2	c.111T>G (p.Val37=)
13	g.20189471A>G	CA483153901	GJB2	c.111T>C (p.Val37=)
13	g.20189471A>T	CA483153899	GJB2	c.111T>A (p.Val37=)
13	g.20189472A=	CA2077140347	GJB2	c.110T= (p.Val37=)
13	g.20189472A>C	CA387461940	GJB2	c.110T>G (p.Val37Gly)
13	g.20189472A>G	CA6904317	GJB2	c.110T>C (p.Val37Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189472A>T	CA387461938	GJB2	c.110T>A (p.Val37Asp)
13	g.20189473C>A	CA273605	GJB2	c.109G>T (p.Val37Phe)	ClinVar dbSNP
13	g.20189473C=	CA2077140354	GJB2	c.109G= (p.Val37=)
13	g.20189473C>G	CA387461942	GJB2	c.109G>C (p.Val37Leu)
13	g.20189473C>T	CA172210	GJB2	c.109G>A (p.Val37Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189473dup	CA2695217725	GJB2	c.109dup (p.Val37GlyfsTer11)
13	g.20189474G>A	CA6904318	GJB2	c.108C>T (p.Leu36=)	ClinVar dbSNP ExAC gnomAD v4
13	g.20189474G>C	CA246460895	GJB2	c.108C>G (p.Leu36=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189474G=	CA2077140363	GJB2	c.108C= (p.Leu36=)
13	g.20189474G>T	CA483153905	GJB2	c.108C>A (p.Leu36=)	gnomAD v4
13	g.20189475A=	CA2077140370	GJB2	c.107T= (p.Leu36=)
13	g.20189475A>C	CA387461945	GJB2	c.107T>G (p.Leu36Arg)
13	g.20189475A>G	CA172208	GJB2	c.107T>C (p.Leu36Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20189475A>T	CA387461947	GJB2	c.107T>A (p.Leu36His)
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

Number of alleles fetched