Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.121447431A=	CA1659501650	GJA1	c.584A= (p.Gln195=)
6	g.121447431A>C	CA365559339	GJA1	c.584A>C (p.Gln195Pro)
6	g.121447431A>G	CA365559341	GJA1	c.584A>G (p.Gln195Arg)
6	g.121447431A>T	CA365559340	GJA1	c.584A>T (p.Gln195Leu)	dbSNP
6	g.121447432G>A	CA452133943	GJA1	c.585G>A (p.Gln195=)
6	g.121447432G>C	CA365559342	GJA1	c.585G>C (p.Gln195His)
6	g.121447432G>T	CA365559343	GJA1	c.585G>T (p.Gln195His)
6	g.121447433G>A	CA365559344	GJA1	c.586G>A (p.Val196Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.121447433G>C	CA365559345	GJA1	c.586G>C (p.Val196Leu)	ClinVar dbSNP
6	g.121447433G=	CA1659501651	GJA1	c.586G= (p.Val196=)
6	g.121447433G>T	CA365559346	GJA1	c.586G>T (p.Val196Leu)
6	g.121447434T>A	CA365559347	GJA1	c.587T>A (p.Val196Glu)
6	g.121447434T>C	CA365559348	GJA1	c.587T>C (p.Val196Ala)
6	g.121447434T>G	CA365559349	GJA1	c.587T>G (p.Val196Gly)
6	g.121447435G>A	CA452133949	GJA1	c.588G>A (p.Val196=)	dbSNP gnomAD v4
6	g.121447435G>C	CA452133948	GJA1	c.588G>C (p.Val196=)
6	g.121447435G=	CA1659501652	GJA1	c.588G= (p.Val196=)
6	g.121447435G>T	CA452133947	GJA1	c.588G>T (p.Val196=)	gnomAD v4
6	g.121447436G>A	CA365559350	GJA1	c.589G>A (p.Asp197Asn)
6	g.121447436G>C	CA365559351	GJA1	c.589G>C (p.Asp197His)
6	g.121447436G>T	CA365559352	GJA1	c.589G>T (p.Asp197Tyr)
6	g.121447437A>C	CA365559355	GJA1	c.590A>C (p.Asp197Ala)
6	g.121447437A>G	CA365559353	GJA1	c.590A>G (p.Asp197Gly)
6	g.121447437A>T	CA365559354	GJA1	c.590A>T (p.Asp197Val)
6	g.121447438C>A	CA365559356	GJA1	c.591C>A (p.Asp197Glu)
6	g.121447438C>G	CA365559357	GJA1	c.591C>G (p.Asp197Glu)
6	g.121447438C>T	CA452133950	GJA1	c.591C>T (p.Asp197=)
6	g.121447439T>A	CA365559358	GJA1	c.592T>A (p.Cys198Ser)
6	g.121447439T>C	CA365559359	GJA1	c.592T>C (p.Cys198Arg)
6	g.121447439T>G	CA365559360	GJA1	c.592T>G (p.Cys198Gly)
6	g.121447440G>A	CA365559361	GJA1	c.593G>A (p.Cys198Tyr)
6	g.121447440G>C	CA365559362	GJA1	c.593G>C (p.Cys198Ser)
6	g.121447440G>T	CA365559363	GJA1	c.593G>T (p.Cys198Phe)
6	g.121447441T>A	CA365559364	GJA1	c.594T>A (p.Cys198Ter)
6	g.121447441T>C	CA452133954	GJA1	c.594T>C (p.Cys198=)
6	g.121447441T>G	CA365559365	GJA1	c.594T>G (p.Cys198Trp)
6	g.121447442T>A	CA365559366	GJA1	c.595T>A (p.Phe199Ile)
6	g.121447442T>C	CA365559367	GJA1	c.595T>C (p.Phe199Leu)
6	g.121447442T>G	CA365559368	GJA1	c.595T>G (p.Phe199Val)
6	g.121447443T>A	CA365559371	GJA1	c.596T>A (p.Phe199Tyr)
6	g.121447443T>C	CA365559370	GJA1	c.596T>C (p.Phe199Ser)
6	g.121447443T>G	CA365559369	GJA1	c.596T>G (p.Phe199Cys)
6	g.121447444C>A	CA365559372	GJA1	c.597C>A (p.Phe199Leu)
6	g.121447444C>G	CA365559373	GJA1	c.597C>G (p.Phe199Leu)
6	g.121447444C>T	CA452133955	GJA1	c.597C>T (p.Phe199=)	gnomAD v4
6	g.121447445C>A	CA365559374	GJA1	c.598C>A (p.Leu200Ile)
6	g.121447445C=	CA1659501653	GJA1	c.598C= (p.Leu200=)
6	g.121447445C>G	CA3981710	GJA1	c.598C>G (p.Leu200Val)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.121447445C>T	CA365559375	GJA1	c.598C>T (p.Leu200Phe)
6	g.121447446T>A	CA365559376	GJA1	c.599T>A (p.Leu200His)

Number of alleles fetched