Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121447242T>A	CA365558910	GJA1	c.395T>A (p.Ile132Lys)
6	g.121447242T>C	CA365558911	GJA1	c.395T>C (p.Ile132Thr)	gnomAD v4
6	g.121447242T>G	CA365558912	GJA1	c.395T>G (p.Ile132Arg)
6	g.121447242_121447245delinsTAAA	CA1659501582	GJA1	c.395_398delinsTAAA (p.Ile132=)
6	g.121447243A>C	CA452133883	GJA1	c.396A>C (p.Ile132=)
6	g.121447243A>G	CA365558913	GJA1	c.396A>G (p.Ile132Met)
6	g.121447243A>T	CA452133885	GJA1	c.396A>T (p.Ile132=)
6	g.121447243_121447245del	CA1139659790	GJA1	c.396_398del (p.Ile132_Lys133delinsMet)	ClinVar dbSNP
6	g.121447244A>C	CA365558916	GJA1	c.397A>C (p.Lys133Gln)
6	g.121447244A>G	CA365558914	GJA1	c.397A>G (p.Lys133Glu)
6	g.121447244A>T	CA365558915	GJA1	c.397A>T (p.Lys133Ter)
6	g.121447247_121447249del	CA2695206910	GJA1	c.400_402del (p.Lys134del)
6	g.121447245A>C	CA365558917	GJA1	c.398A>C (p.Lys133Thr)
6	g.121447245A>G	CA365558918	GJA1	c.398A>G (p.Lys133Arg)
6	g.121447245A>T	CA365558919	GJA1	c.398A>T (p.Lys133Met)
6	g.121447246G>A	CA452134014	GJA1	c.399G>A (p.Lys133=)
6	g.121447246G>C	CA365558920	GJA1	c.399G>C (p.Lys133Asn)
6	g.121447246G>T	CA365558921	GJA1	c.399G>T (p.Lys133Asn)	COSMIC
6	g.121447247A>C	CA365558922	GJA1	c.400A>C (p.Lys134Gln)
6	g.121447247A>G	CA365558923	GJA1	c.400A>G (p.Lys134Glu)
6	g.121447247A>T	CA365558924	GJA1	c.400A>T (p.Lys134Ter)
6	g.121447248A>C	CA365558925	GJA1	c.401A>C (p.Lys134Thr)
6	g.121447248A>G	CA365558926	GJA1	c.401A>G (p.Lys134Arg)
6	g.121447248A>T	CA365558927	GJA1	c.401A>T (p.Lys134Met)
6	g.121447249G>A	CA452134017	GJA1	c.402G>A (p.Lys134=)
6	g.121447249G>C	CA365558929	GJA1	c.402G>C (p.Lys134Asn)	ClinVar
6	g.121447249G>T	CA365558928	GJA1	c.402G>T (p.Lys134Asn)
6	g.121447250T>A	CA365558930	GJA1	c.403T>A (p.Phe135Ile)
6	g.121447250T>C	CA365558931	GJA1	c.403T>C (p.Phe135Leu)
6	g.121447250T>G	CA365558932	GJA1	c.403T>G (p.Phe135Val)
6	g.121447251T>A	CA365558933	GJA1	c.404T>A (p.Phe135Tyr)
6	g.121447251T>C	CA365558934	GJA1	c.404T>C (p.Phe135Ser)
6	g.121447251T>G	CA365558935	GJA1	c.404T>G (p.Phe135Cys)
6	g.121447252C>A	CA365558936	GJA1	c.405C>A (p.Phe135Leu)
6	g.121447252C=	CA1659501583	GJA1	c.405C= (p.Phe135=)
6	g.121447252C>G	CA365558937	GJA1	c.405C>G (p.Phe135Leu)
6	g.121447252C>T	CA3981684	GJA1	c.405C>T (p.Phe135=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.121447253A>C	CA365558938	GJA1	c.406A>C (p.Lys136Gln)
6	g.121447253A>G	CA365558939	GJA1	c.406A>G (p.Lys136Glu)
6	g.121447253A>T	CA365558940	GJA1	c.406A>T (p.Lys136Ter)
6	g.121447254A=	CA1659501584	GJA1	c.407A= (p.Lys136=)
6	g.121447254A>C	CA365558943	GJA1	c.407A>C (p.Lys136Thr)
6	g.121447254A>G	CA365558942	GJA1	c.407A>G (p.Lys136Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.121447254A>T	CA365558941	GJA1	c.407A>T (p.Lys136Met)
6	g.121447255G>A	CA452134027	GJA1	c.408G>A (p.Lys136=)	gnomAD v4
6	g.121447255G>C	CA365558944	GJA1	c.408G>C (p.Lys136Asn)
6	g.121447255G=	CA1659501585	GJA1	c.408G= (p.Lys136=)
6	g.121447255G>T	CA365558945	GJA1	c.408G>T (p.Lys136Asn)
6	g.121447256T>A	CA365558946	GJA1	c.409T>A (p.Tyr137Asn)
6	g.121447256T>C	CA365558948	GJA1	c.409T>C (p.Tyr137His)

Number of alleles fetched