Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121447235A>C	CA365558892	GJA1	c.388A>C (p.Ile130Leu)
6	g.121447235A>G	CA365558893	GJA1	c.388A>G (p.Ile130Val)
6	g.121447235A>T	CA365558894	GJA1	c.388A>T (p.Ile130Phe)
6	g.121447236T>A	CA365558895	GJA1	c.389T>A (p.Ile130Asn)
6	g.121447236T>C	CA365558896	GJA1	c.389T>C (p.Ile130Thr)	ClinVar dbSNP gnomAD v4
6	g.121447236T>G	CA365558897	GJA1	c.389T>G (p.Ile130Ser)
6	g.121447236T=	CA1659501581	GJA1	c.389T= (p.Ile130=)
6	g.121447237T>A	CA452133869	GJA1	c.390T>A (p.Ile130=)
6	g.121447237T>C	CA452133871	GJA1	c.390T>C (p.Ile130=)
6	g.121447237T>G	CA365558898	GJA1	c.390T>G (p.Ile130Met)	gnomAD v4
6	g.121447238G>A	CA365558901	GJA1	c.391G>A (p.Glu131Lys)	gnomAD v4
6	g.121447238G>C	CA365558899	GJA1	c.391G>C (p.Glu131Gln)
6	g.121447238G>T	CA365558900	GJA1	c.391G>T (p.Glu131Ter)
6	g.121447239A>C	CA365558902	GJA1	c.392A>C (p.Glu131Ala)
6	g.121447239A>G	CA365558903	GJA1	c.392A>G (p.Glu131Gly)
6	g.121447239A>T	CA365558904	GJA1	c.392A>T (p.Glu131Val)
6	g.121447240G>A	CA452133878	GJA1	c.393G>A (p.Glu131=)	ClinVar
6	g.121447240G>C	CA365558905	GJA1	c.393G>C (p.Glu131Asp)
6	g.121447240G>T	CA365558906	GJA1	c.393G>T (p.Glu131Asp)
6	g.121447241A>C	CA365558907	GJA1	c.394A>C (p.Ile132Leu)
6	g.121447241A>G	CA365558908	GJA1	c.394A>G (p.Ile132Val)
6	g.121447241A>T	CA365558909	GJA1	c.394A>T (p.Ile132Leu)
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)

Number of alleles fetched