Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121446878C>A	CA365557770	GJA1	c.31C>A (p.Leu11Ile)
6	g.121446878C=	CA1659501464	GJA1	c.31C= (p.Leu11=)
6	g.121446878C>G	CA365557769	GJA1	c.31C>G (p.Leu11Val)
6	g.121446878C>T	CA128546	GJA1	c.31C>T (p.Leu11Phe)	ClinVar dbSNP
6	g.121446879T>A	CA365557771	GJA1	c.32T>A (p.Leu11His)	ClinVar
6	g.121446879T>C	CA127016	GJA1	c.32T>C (p.Leu11Pro)	ClinVar dbSNP
6	g.121446879T>G	CA365557772	GJA1	c.32T>G (p.Leu11Arg)
6	g.121446879T=	CA1659501465	GJA1	c.32T= (p.Leu11=)
6	g.121446880T>A	CA452133888	GJA1	c.33T>A (p.Leu11=)
6	g.121446880T>C	CA452133886	GJA1	c.33T>C (p.Leu11=)
6	g.121446880T>G	CA452133887	GJA1	c.33T>G (p.Leu11=)
6	g.121446881del	CA2680195046	GJA1	c.34del (p.Asp12ThrfsTer?)	gnomAD v4
6	g.121446881G>A	CA365557773	GJA1	c.34G>A (p.Asp12Asn)
6	g.121446881G>C	CA365557775	GJA1	c.34G>C (p.Asp12His)
6	g.121446881G>T	CA365557774	GJA1	c.34G>T (p.Asp12Tyr)
6	g.121446882A>C	CA365557776	GJA1	c.35A>C (p.Asp12Ala)
6	g.121446882A>G	CA365557777	GJA1	c.35A>G (p.Asp12Gly)
6	g.121446882A>T	CA365557778	GJA1	c.35A>T (p.Asp12Val)
6	g.121446882dup	CA2680195047	GJA1	c.35dup (p.Asp12GlufsTer31)	gnomAD v4
6	g.121446883del	CA2680195048	GJA1	c.36del (p.Asp12GlufsTer?)	gnomAD v4
6	g.121446883C>A	CA365557779	GJA1	c.36C>A (p.Asp12Glu)
6	g.121446883C>G	CA365557780	GJA1	c.36C>G (p.Asp12Glu)
6	g.121446883C>T	CA452133897	GJA1	c.36C>T (p.Asp12=)
6	g.121446884A>C	CA365557781	GJA1	c.37A>C (p.Lys13Gln)
6	g.121446884A>G	CA365557782	GJA1	c.37A>G (p.Lys13Glu)	ClinVar gnomAD v4
6	g.121446884A>T	CA365557783	GJA1	c.37A>T (p.Lys13Ter)
6	g.121446885A>C	CA365557784	GJA1	c.38A>C (p.Lys13Thr)
6	g.121446885A>G	CA365557785	GJA1	c.38A>G (p.Lys13Arg)
6	g.121446885A>T	CA365557786	GJA1	c.38A>T (p.Lys13Met)
6	g.121446886G>A	CA452133904	GJA1	c.39G>A (p.Lys13=)	gnomAD v4
6	g.121446886G>C	CA365557787	GJA1	c.39G>C (p.Lys13Asn)
6	g.121446886G>T	CA365557788	GJA1	c.39G>T (p.Lys13Asn)	COSMIC
6	g.121446887G>A	CA365557789	GJA1	c.40G>A (p.Val14Ile)
6	g.121446887G>C	CA365557791	GJA1	c.40G>C (p.Val14Leu)
6	g.121446887G>T	CA365557790	GJA1	c.40G>T (p.Val14Phe)
6	g.121446888T>A	CA365557792	GJA1	c.41T>A (p.Val14Asp)
6	g.121446888T>C	CA365557793	GJA1	c.41T>C (p.Val14Ala)
6	g.121446888T>G	CA365557794	GJA1	c.41T>G (p.Val14Gly)
6	g.121446889T>A	CA452133909	GJA1	c.42T>A (p.Val14=)
6	g.121446889T>C	CA452133912	GJA1	c.42T>C (p.Val14=)
6	g.121446889T>G	CA452133913	GJA1	c.42T>G (p.Val14=)
6	g.121446890C>A	CA365557795	GJA1	c.43C>A (p.Gln15Lys)
6	g.121446890C>G	CA365557796	GJA1	c.43C>G (p.Gln15Glu)
6	g.121446890C>T	CA365557797	GJA1	c.43C>T (p.Gln15Ter)
6	g.121446891A>C	CA365557798	GJA1	c.44A>C (p.Gln15Pro)
6	g.121446891A>G	CA365557799	GJA1	c.44A>G (p.Gln15Arg)
6	g.121446891A>T	CA365557800	GJA1	c.44A>T (p.Gln15Leu)
6	g.121446892del	CA2680195049	GJA1	c.45del (p.Ala16ProfsTer?)	gnomAD v4
6	g.121446892A>C	CA365557801	GJA1	c.45A>C (p.Gln15His)
6	g.121446892A>G	CA452133917	GJA1	c.45A>G (p.Gln15=)

Number of alleles fetched