Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
6	g.121447347T>A	CA365559150	GJA1	c.500T>A (p.Val167Glu)
6	g.121447347T>C	CA365559151	GJA1	c.500T>C (p.Val167Ala)
6	g.121447347T>G	CA365559152	GJA1	c.500T>G (p.Val167Gly)
6	g.121447348G>A	CA146810028	GJA1	c.501G>A (p.Val167=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.121447348G>C	CA452134153	GJA1	c.501G>C (p.Val167=)
6	g.121447348G=	CA1659501623	GJA1	c.501G= (p.Val167=)
6	g.121447348G>T	CA452134151	GJA1	c.501G>T (p.Val167=)	gnomAD v4
6	g.121447349G>A	CA146810029	GJA1	c.502G>A (p.Ala168Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.121447349G>C	CA365559153	GJA1	c.502G>C (p.Ala168Pro)
6	g.121447349G=	CA1659501624	GJA1	c.502G= (p.Ala168=)
6	g.121447349G>T	CA365559154	GJA1	c.502G>T (p.Ala168Ser)
6	g.121447350C>A	CA365559155	GJA1	c.503C>A (p.Ala168Asp)
6	g.121447350C=	CA1659501625	GJA1	c.503C= (p.Ala168=)
6	g.121447350C>G	CA365559156	GJA1	c.503C>G (p.Ala168Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.121447350C>T	CA365559157	GJA1	c.503C>T (p.Ala168Val)	gnomAD v4
6	g.121447351C>A	CA452134168	GJA1	c.504C>A (p.Ala168=)
6	g.121447351C=	CA1659501626	GJA1	c.504C= (p.Ala168=)
6	g.121447351C>G	CA452134171	GJA1	c.504C>G (p.Ala168=)
6	g.121447351C>T	CA452134169	GJA1	c.504C>T (p.Ala168=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched