Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.128912010_128912011del	CA2739271799	KCNJ5	c.737_738del (p.Glu246GlyfsTer16)	ClinVar
11	g.128912011G>A	CA6357927	KCNJ5	c.738G>A (p.Glu246=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128912011G>C	CA230640550	KCNJ5	c.738G>C (p.Glu246Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11	g.128912011G=	CA2008293084	KCNJ5	c.738G= (p.Glu246=)
11	g.128912011G>T	CA383249896	KCNJ5	c.738G>T (p.Glu246Asp)	dbSNP gnomAD v4
11	g.128912012G>A	CA232429	KCNJ5	c.739G>A (p.Gly247Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128912012G>C	CA383249900	KCNJ5	c.739G>C (p.Gly247Arg)
11	g.128912012G=	CA2008293090	KCNJ5	c.739G= (p.Gly247=)
11	g.128912012G>T	CA383249901	KCNJ5	c.739G>T (p.Gly247Trp)
11	g.128912013G>A	CA383249904	KCNJ5	c.740G>A (p.Gly247Glu)	COSMIC
11	g.128912013G>C	CA383249906	KCNJ5	c.740G>C (p.Gly247Ala)
11	g.128912013G>T	CA383249909	KCNJ5	c.740G>T (p.Gly247Val)	COSMIC
11	g.128912014G>A	CA477704022	KCNJ5	c.741G>A (p.Gly247=)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.128912014G>C	CA6357928	KCNJ5	c.741G>C (p.Gly247=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128912014G=	CA2008293095	KCNJ5	c.741G= (p.Gly247=)
11	g.128912014G>T	CA477704023	KCNJ5	c.741G>T (p.Gly247=)
11	g.128912015G>A	CA383249922	KCNJ5	c.742G>A (p.Glu248Lys)
11	g.128912015G>C	CA383249916	KCNJ5	c.742G>C (p.Glu248Gln)
11	g.128912015G>T	CA383249918	KCNJ5	c.742G>T (p.Glu248Ter)
11	g.128912016A=	CA2008293099	KCNJ5	c.743A= (p.Glu248=)
11	g.128912016A>C	CA383249925	KCNJ5	c.743A>C (p.Glu248Ala)
11	g.128912016A>G	CA383249927	KCNJ5	c.743A>G (p.Glu248Gly)
11	g.128912016A>T	CA383249930	KCNJ5	c.743A>T (p.Glu248Val)	dbSNP gnomAD v2 gnomAD v4
11	g.128912017G>A	CA6357929	KCNJ5	c.744G>A (p.Glu248=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128912017G>C	CA383249936	KCNJ5	c.744G>C (p.Glu248Asp)
11	g.128912017G=	CA2008293102	KCNJ5	c.744G= (p.Glu248=)
11	g.128912017G>T	CA383249939	KCNJ5	c.744G>T (p.Glu248Asp)
11	g.128912018T>A	CA383249944	KCNJ5	c.745T>A (p.Phe249Ile)
11	g.128912018T>C	CA383249947	KCNJ5	c.745T>C (p.Phe249Leu)
11	g.128912018T>G	CA383249949	KCNJ5	c.745T>G (p.Phe249Val)
11	g.128912019T>A	CA383249952	KCNJ5	c.746T>A (p.Phe249Tyr)
11	g.128912019T>C	CA383249955	KCNJ5	c.746T>C (p.Phe249Ser)
11	g.128912019T>G	CA383249958	KCNJ5	c.746T>G (p.Phe249Cys)
11	g.128912020del	CA2616775472	KCNJ5	c.747del (p.Phe249LeufsTer4)	gnomAD v4
11	g.128912020C>A	CA383249966	KCNJ5	c.747C>A (p.Phe249Leu)
11	g.128912020C>G	CA383249963	KCNJ5	c.747C>G (p.Phe249Leu)
11	g.128912020C>T	CA477704026	KCNJ5	c.747C>T (p.Phe249=)
11	g.128912021A=	CA2008293109	KCNJ5	c.748A= (p.Ile250=)
11	g.128912021A>C	CA383249971	KCNJ5	c.748A>C (p.Ile250Leu)
11	g.128912021A>G	CA383249977	KCNJ5	c.748A>G (p.Ile250Val)	gnomAD v4
11	g.128912021A>T	CA6357930	KCNJ5	c.748A>T (p.Ile250Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128912022T>A	CA383249979	KCNJ5	c.749T>A (p.Ile250Asn)
11	g.128912022T>C	CA383249982	KCNJ5	c.749T>C (p.Ile250Thr)
11	g.128912022T>G	CA383249980	KCNJ5	c.749T>G (p.Ile250Ser)
11	g.128912023C>A	CA477704032	KCNJ5	c.750C>A (p.Ile250=)
11	g.128912023C=	CA2008293115	KCNJ5	c.750C= (p.Ile250=)
11	g.128912023C>G	CA383249983	KCNJ5	c.750C>G (p.Ile250Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
11	g.128912023C>T	CA477704033	KCNJ5	c.750C>T (p.Ile250=)	ClinVar dbSNP gnomAD v4
11	g.128912024C>A	CA383249987	KCNJ5	c.751C>A (p.Pro251Thr)
11	g.128912024C=	CA2008293118	KCNJ5	c.751C= (p.Pro251=)

Number of alleles fetched