Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121447333G>A	CA452134123	GJA1	c.486G>A (p.Lys162=)	gnomAD v4
6	g.121447333G>C	CA16043411	GJA1	c.486G>C (p.Lys162Asn)	ClinVar dbSNP
6	g.121447333G=	CA1659501615	GJA1	c.486G= (p.Lys162=)
6	g.121447333G>T	CA365559117	GJA1	c.486G>T (p.Lys162Asn)
6	g.121447334T>A	CA365559118	GJA1	c.487T>A (p.Ser163Thr)
6	g.121447334T>C	CA365559119	GJA1	c.487T>C (p.Ser163Pro)
6	g.121447334T>G	CA365559120	GJA1	c.487T>G (p.Ser163Ala)
6	g.121447335C>A	CA365559121	GJA1	c.488C>A (p.Ser163Tyr)
6	g.121447335C=	CA1659501616	GJA1	c.488C= (p.Ser163=)
6	g.121447335C>G	CA365559123	GJA1	c.488C>G (p.Ser163Cys)
6	g.121447335C>T	CA365559122	GJA1	c.488C>T (p.Ser163Phe)	dbSNP gnomAD v3 gnomAD v4
6	g.121447336T>A	CA452134126	GJA1	c.489T>A (p.Ser163=)	ClinVar
6	g.121447336T>C	CA452134127	GJA1	c.489T>C (p.Ser163=)	dbSNP gnomAD v2 gnomAD v4
6	g.121447336T>G	CA452134129	GJA1	c.489T>G (p.Ser163=)
6	g.121447336T=	CA1659501617	GJA1	c.489T= (p.Ser163=)
6	g.121447337A=	CA1659501618	GJA1	c.490A= (p.Ile164=)
6	g.121447337A>C	CA365559124	GJA1	c.490A>C (p.Ile164Leu)
6	g.121447337A>G	CA365559126	GJA1	c.490A>G (p.Ile164Val)	dbSNP gnomAD v4
6	g.121447337A>T	CA365559125	GJA1	c.490A>T (p.Ile164Phe)
6	g.121447338T>A	CA365559127	GJA1	c.491T>A (p.Ile164Asn)
6	g.121447338T>C	CA365559128	GJA1	c.491T>C (p.Ile164Thr)	gnomAD v4
6	g.121447338T>G	CA365559129	GJA1	c.491T>G (p.Ile164Ser)
6	g.121447339C>A	CA452134135	GJA1	c.492C>A (p.Ile164=)
6	g.121447339C=	CA1659501619	GJA1	c.492C= (p.Ile164=)
6	g.121447339C>G	CA365559130	GJA1	c.492C>G (p.Ile164Met)
6	g.121447339C>T	CA452134136	GJA1	c.492C>T (p.Ile164=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.121447340T>A	CA365559131	GJA1	c.493T>A (p.Phe165Ile)	dbSNP gnomAD v2
6	g.121447340T>C	CA365559132	GJA1	c.493T>C (p.Phe165Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.121447340T>G	CA365559133	GJA1	c.493T>G (p.Phe165Val)
6	g.121447340T=	CA1659501620	GJA1	c.493T= (p.Phe165=)
6	g.121447341T>A	CA365559134	GJA1	c.494T>A (p.Phe165Tyr)
6	g.121447341T>C	CA365559135	GJA1	c.494T>C (p.Phe165Ser)	gnomAD v4
6	g.121447341T>G	CA365559136	GJA1	c.494T>G (p.Phe165Cys)
6	g.121447342T>A	CA365559137	GJA1	c.495T>A (p.Phe165Leu)
6	g.121447342T>C	CA452134140	GJA1	c.495T>C (p.Phe165=)
6	g.121447342T>G	CA365559138	GJA1	c.495T>G (p.Phe165Leu)
6	g.121447343G>A	CA365559141	GJA1	c.496G>A (p.Glu166Lys)	dbSNP gnomAD v3 gnomAD v4
6	g.121447343G>C	CA365559139	GJA1	c.496G>C (p.Glu166Gln)
6	g.121447343G=	CA1659501621	GJA1	c.496G= (p.Glu166=)
6	g.121447343G>T	CA365559140	GJA1	c.496G>T (p.Glu166Ter)
6	g.121447344A>C	CA365559142	GJA1	c.497A>C (p.Glu166Ala)
6	g.121447344A>G	CA365559143	GJA1	c.497A>G (p.Glu166Gly)
6	g.121447344A>T	CA365559144	GJA1	c.497A>T (p.Glu166Val)
6	g.121447345G>A	CA452134146	GJA1	c.498G>A (p.Glu166=)
6	g.121447345G>C	CA365559145	GJA1	c.498G>C (p.Glu166Asp)	dbSNP gnomAD v2
6	g.121447345G=	CA1659501622	GJA1	c.498G= (p.Glu166=)
6	g.121447345G>T	CA365559146	GJA1	c.498G>T (p.Glu166Asp)
6	g.121447346G>A	CA365559147	GJA1	c.499G>A (p.Val167Met)
6	g.121447346G>C	CA365559148	GJA1	c.499G>C (p.Val167Leu)
6	g.121447346G>T	CA365559149	GJA1	c.499G>T (p.Val167Leu)

Number of alleles fetched