Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121447017A>C	CA365558086	GJA1	c.170A>C (p.Gln57Pro)
6	g.121447017A>G	CA365558088	GJA1	c.170A>G (p.Gln57Arg)
6	g.121447017A>T	CA365558089	GJA1	c.170A>T (p.Gln57Leu)
6	g.121447018G>A	CA3981663	GJA1	c.171G>A (p.Gln57=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.121447018G>C	CA365558094	GJA1	c.171G>C (p.Gln57His)
6	g.121447018G=	CA1659501511	GJA1	c.171G= (p.Gln57=)
6	g.121447018G>T	CA365558092	GJA1	c.171G>T (p.Gln57His)
6	g.121447019C>A	CA365558100	GJA1	c.172C>A (p.Gln58Lys)
6	g.121447019C>G	CA365558096	GJA1	c.172C>G (p.Gln58Glu)
6	g.121447019C>T	CA365558098	GJA1	c.172C>T (p.Gln58Ter)
6	g.121447020A>C	CA365558101	GJA1	c.173A>C (p.Gln58Pro)
6	g.121447020A>G	CA365558102	GJA1	c.173A>G (p.Gln58Arg)
6	g.121447020A>T	CA365558103	GJA1	c.173A>T (p.Gln58Leu)
6	g.121447021A=	CA1659501512	GJA1	c.174A= (p.Gln58=)
6	g.121447021A>C	CA365558104	GJA1	c.174A>C (p.Gln58His)
6	g.121447021A>G	CA452134144	GJA1	c.174A>G (p.Gln58=)	dbSNP gnomAD v2 gnomAD v4
6	g.121447021A>T	CA365558105	GJA1	c.174A>T (p.Gln58His)
6	g.121447022C>A	CA365558107	GJA1	c.175C>A (p.Pro59Thr)
6	g.121447022C>G	CA365558110	GJA1	c.175C>G (p.Pro59Ala)
6	g.121447022C>T	CA365558112	GJA1	c.175C>T (p.Pro59Ser)
6	g.121447023C>A	CA365558114	GJA1	c.176C>A (p.Pro59His)
6	g.121447023C>G	CA365558116	GJA1	c.176C>G (p.Pro59Arg)
6	g.121447023C>T	CA365558117	GJA1	c.176C>T (p.Pro59Leu)
6	g.121447024T>A	CA452134154	GJA1	c.177T>A (p.Pro59=)
6	g.121447024T>C	CA452134155	GJA1	c.177T>C (p.Pro59=)
6	g.121447024T>G	CA452134152	GJA1	c.177T>G (p.Pro59=)
6	g.121447025G>A	CA365558120	GJA1	c.178G>A (p.Gly60Ser)
6	g.121447025G>C	CA365558122	GJA1	c.178G>C (p.Gly60Arg)
6	g.121447025G>T	CA365558121	GJA1	c.178G>T (p.Gly60Cys)	COSMIC
6	g.121447026G>A	CA365558125	GJA1	c.179G>A (p.Gly60Asp)
6	g.121447026G>C	CA365558127	GJA1	c.179G>C (p.Gly60Ala)
6	g.121447026G>T	CA365558128	GJA1	c.179G>T (p.Gly60Val)
6	g.121447027T>A	CA452134164	GJA1	c.180T>A (p.Gly60=)	dbSNP gnomAD v3 gnomAD v4
6	g.121447027T>C	CA452134163	GJA1	c.180T>C (p.Gly60=)	ClinVar gnomAD v4
6	g.121447027T>G	CA452134162	GJA1	c.180T>G (p.Gly60=)
6	g.121447027T=	CA1659501513	GJA1	c.180T= (p.Gly60=)
6	g.121447028T>A	CA365558130	GJA1	c.181T>A (p.Cys61Ser)
6	g.121447028T>C	CA365558132	GJA1	c.181T>C (p.Cys61Arg)
6	g.121447028T>G	CA365558133	GJA1	c.181T>G (p.Cys61Gly)
6	g.121447029G>A	CA365558135	GJA1	c.182G>A (p.Cys61Tyr)	dbSNP
6	g.121447029G>C	CA365558137	GJA1	c.182G>C (p.Cys61Ser)
6	g.121447029G=	CA1659501514	GJA1	c.182G= (p.Cys61=)
6	g.121447029G>T	CA365558139	GJA1	c.182G>T (p.Cys61Phe)
6	g.121447030T>A	CA365558141	GJA1	c.183T>A (p.Cys61Ter)
6	g.121447030T>C	CA452134173	GJA1	c.183T>C (p.Cys61=)
6	g.121447030T>G	CA365558142	GJA1	c.183T>G (p.Cys61Trp)
6	g.121447031G>A	CA365558146	GJA1	c.184G>A (p.Glu62Lys)	ClinVar
6	g.121447031G>C	CA365558148	GJA1	c.184G>C (p.Glu62Gln)
6	g.121447031G>T	CA365558144	GJA1	c.184G>T (p.Glu62Ter)
6	g.121447032A>C	CA365558151	GJA1	c.185A>C (p.Glu62Ala)

Number of alleles fetched