Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
13	g.20188978_20189023dup	CA913191089	GJB2	c.560_605dup (p.Cys202Ter)	ClinVar dbSNP gnomAD v4
13	g.20188981_20188990delinsTTCCAGACAC	CA2077138739	GJB2	c.592_601delinsGTGTCTGGAA (p.Val198=)
13	g.20188982T>A	CA483154288	GJB2	c.600A>T (p.Gly200=)
13	g.20188982T>C	CA483154289	GJB2	c.600A>G (p.Gly200=)
13	g.20188982T>G	CA483154287	GJB2	c.600A>C (p.Gly200=)	ClinVar dbSNP
13	g.20188982_20188990delinsGAATGTCATGAACACTG	CA261653	GJB2	c.592_600delinsCAGTGTTCATGACATTC (p.Val198GlnfsTer4)	ClinVar dbSNP
13	g.20188983C>A	CA387460824	GJB2	c.599G>T (p.Gly200Val)
13	g.20188983C>G	CA387460825	GJB2	c.599G>C (p.Gly200Ala)
13	g.20188983C>T	CA387460826	GJB2	c.599G>A (p.Gly200Glu)
13	g.20188984C>A	CA274205	GJB2	c.598G>T (p.Gly200Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188984C=	CA2077138753	GJB2	c.598G= (p.Gly200=)
13	g.20188984C>G	CA387460827	GJB2	c.598G>C (p.Gly200Arg)
13	g.20188984C>T	CA357244	GJB2	c.598G>A (p.Gly200Arg)	ClinVar dbSNP
13	g.20188985A=	CA2077138757	GJB2	c.597T= (p.Ser199=)
13	g.20188985A>C	CA483154290	GJB2	c.597T>G (p.Ser199=)
13	g.20188985A>G	CA483154291	GJB2	c.597T>C (p.Ser199=)	ClinVar dbSNP gnomAD v3 gnomAD v4
13	g.20188985A>T	CA246459739	GJB2	c.597T>A (p.Ser199=)	ClinVar dbSNP gnomAD v2 gnomAD v4
13	g.20188986G>A	CA274470	GJB2	c.596C>T (p.Ser199Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188986G>C	CA387460828	GJB2	c.596C>G (p.Ser199Cys)	gnomAD v4
13	g.20188986G=	CA2077138762	GJB2	c.596C= (p.Ser199=)
13	g.20188986G>T	CA387460829	GJB2	c.596C>A (p.Ser199Tyr)
13	g.20188987A>C	CA387460831	GJB2	c.595T>G (p.Ser199Ala)	ClinVar
13	g.20188987A>G	CA387460832	GJB2	c.595T>C (p.Ser199Pro)	ClinVar gnomAD v4
13	g.20188987A>T	CA387460830	GJB2	c.595T>A (p.Ser199Thr)
13	g.20188987dup	CA608984141	GJB2	c.595dup (p.Ser199PhefsTer11)	dbSNP gnomAD v2 gnomAD v4
13	g.20188988C>A	CA483154292	GJB2	c.594G>T (p.Val198=)
13	g.20188988C=	CA2077138770	GJB2	c.594G= (p.Val198=)
13	g.20188988C>G	CA483154293	GJB2	c.594G>C (p.Val198=)
13	g.20188988C>T	CA6904225	GJB2	c.594G>A (p.Val198=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13	g.20188990_20188994dup	CA2695217653	GJB2	c.590_594dup (p.Ser199GlnfsTer9)
13	g.20188989A=	CA2077138775	GJB2	c.593T= (p.Val198=)
13	g.20188989A>C	CA6904226	GJB2	c.593T>G (p.Val198Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13	g.20188989A>G	CA387460834	GJB2	c.593T>C (p.Val198Ala)	dbSNP gnomAD v3 gnomAD v4
13	g.20188989A>T	CA387460833	GJB2	c.593T>A (p.Val198Glu)	gnomAD v4
13	g.20188990C>A	CA387460835	GJB2	c.592G>T (p.Val198Leu)
13	g.20188990C=	CA2077138777	GJB2	c.592G= (p.Val198=)
13	g.20188990C>G	CA387460836	GJB2	c.592G>C (p.Val198Leu)
13	g.20188990C>T	CA387460837	GJB2	c.592G>A (p.Val198Met)	ClinVar dbSNP
13	g.20188991T>A	CA483154294	GJB2	c.591A>T (p.Ala197=)
13	g.20188991T>C	CA6904227	GJB2	c.591A>G (p.Ala197=)	dbSNP ExAC gnomAD v2
13	g.20188991T>G	CA483154295	GJB2	c.591A>C (p.Ala197=)
13	g.20188991T=	CA2077138783	GJB2	c.591A= (p.Ala197=)
13	g.20188991_20188992dup	CA608984142	GJB2	c.590_591dup (p.Val198GlnfsTer9)	dbSNP gnomAD v2 gnomAD v4
13	g.20188992G>A	CA387460838	GJB2	c.590C>T (p.Ala197Val)	dbSNP gnomAD v4
13	g.20188992G>C	CA387460839	GJB2	c.590C>G (p.Ala197Gly)
13	g.20188992G=	CA2077138786	GJB2	c.590C= (p.Ala197=)
13	g.20188992G>T	CA387460840	GJB2	c.590C>A (p.Ala197Glu)
13	g.20188993C>A	CA387460841	GJB2	c.589G>T (p.Ala197Ser)	dbSNP gnomAD v2 gnomAD v4 COSMIC
13	g.20188993C=	CA2077138789	GJB2	c.589G= (p.Ala197=)
13	g.20188993C>G	CA387460842	GJB2	c.589G>C (p.Ala197Pro)

Number of alleles fetched