Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.70175779A>C	CA400861878	KCNJ2	c.740A>C (p.Gln247Pro)
17	g.70175779A>G	CA400861880	KCNJ2	c.740A>G (p.Gln247Arg)
17	g.70175779A>T	CA400861882	KCNJ2	c.740A>T (p.Gln247Leu)
17	g.70175780A>C	CA400861884	KCNJ2	c.741A>C (p.Gln247His)
17	g.70175780A>G	CA501700886	KCNJ2	c.741A>G (p.Gln247=)
17	g.70175780A>T	CA400861885	KCNJ2	c.741A>T (p.Gln247His)
17	g.70175781A>C	CA400861886	KCNJ2	c.742A>C (p.Ile248Leu)
17	g.70175781A>G	CA400861888	KCNJ2	c.742A>G (p.Ile248Val)	gnomAD v4
17	g.70175781A>T	CA400861890	KCNJ2	c.742A>T (p.Ile248Leu)
17	g.70175782T>A	CA400861897	KCNJ2	c.743T>A (p.Ile248Lys)
17	g.70175782T>C	CA400861895	KCNJ2	c.743T>C (p.Ile248Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.70175782T>G	CA400861892	KCNJ2	c.743T>G (p.Ile248Arg)	dbSNP
17	g.70175782T=	CA2272996682	KCNJ2	c.743T= (p.Ile248=)
17	g.70175783A=	CA2272996683	KCNJ2	c.744A= (p.Ile248=)
17	g.70175783A>C	CA501700888	KCNJ2	c.744A>C (p.Ile248=)
17	g.70175783A>G	CA8738763	KCNJ2	c.744A>G (p.Ile248Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175783A>T	CA501700890	KCNJ2	c.744A>T (p.Ile248=)
17	g.70175784G>A	CA400861898	KCNJ2	c.745G>A (p.Asp249Asn)	dbSNP
17	g.70175784G>C	CA400861899	KCNJ2	c.745G>C (p.Asp249His)
17	g.70175784G=	CA2272996684	KCNJ2	c.745G= (p.Asp249=)
17	g.70175784G>T	CA400861900	KCNJ2	c.745G>T (p.Asp249Tyr)
17	g.70175785A>C	CA400861901	KCNJ2	c.746A>C (p.Asp249Ala)
17	g.70175785A>G	CA400861902	KCNJ2	c.746A>G (p.Asp249Gly)
17	g.70175785A>T	CA400861903	KCNJ2	c.746A>T (p.Asp249Val)
17	g.70175786C>A	CA400861904	KCNJ2	c.747C>A (p.Asp249Glu)
17	g.70175786C>G	CA400861905	KCNJ2	c.747C>G (p.Asp249Glu)
17	g.70175786C>T	CA501700891	KCNJ2	c.747C>T (p.Asp249=)
17	g.70175787A>C	CA400861906	KCNJ2	c.748A>C (p.Ile250Leu)
17	g.70175787A>G	CA400861907	KCNJ2	c.748A>G (p.Ile250Val)
17	g.70175787A>T	CA400861908	KCNJ2	c.748A>T (p.Ile250Phe)
17	g.70175788T>A	CA400861910	KCNJ2	c.749T>A (p.Ile250Asn)
17	g.70175788T>C	CA400861911	KCNJ2	c.749T>C (p.Ile250Thr)
17	g.70175788T>G	CA400861909	KCNJ2	c.749T>G (p.Ile250Ser)
17	g.70175789C>A	CA10587906	KCNJ2	c.750C>A (p.Ile250=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175789C=	CA2272996685	KCNJ2	c.750C= (p.Ile250=)
17	g.70175789C>G	CA400861912	KCNJ2	c.750C>G (p.Ile250Met)
17	g.70175789C>T	CA501700894	KCNJ2	c.750C>T (p.Ile250=)
17	g.70175790A>C	CA400861913	KCNJ2	c.751A>C (p.Asn251His)
17	g.70175790A>G	CA400861914	KCNJ2	c.751A>G (p.Asn251Asp)
17	g.70175790A>T	CA400861915	KCNJ2	c.751A>T (p.Asn251Tyr)
17	g.70175791A=	CA2272996686	KCNJ2	c.752A= (p.Asn251=)
17	g.70175791A>C	CA400861922	KCNJ2	c.752A>C (p.Asn251Thr)
17	g.70175791A>G	CA400861918	KCNJ2	c.752A>G (p.Asn251Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175791A>T	CA400861919	KCNJ2	c.752A>T (p.Asn251Ile)
17	g.70175792T>A	CA400861923	KCNJ2	c.753T>A (p.Asn251Lys)
17	g.70175792T>C	CA501700899	KCNJ2	c.753T>C (p.Asn251=)	dbSNP
17	g.70175792T>G	CA400861925	KCNJ2	c.753T>G (p.Asn251Lys)
17	g.70175792T=	CA2272996687	KCNJ2	c.753T= (p.Asn251=)
17	g.70175793G>A	CA400861927	KCNJ2	c.754G>A (p.Val252Ile)	gnomAD v4
17	g.70175793G>C	CA400861929	KCNJ2	c.754G>C (p.Val252Leu)

Number of alleles fetched