Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.70170730_70175461del	CA1139665860	KCNJ2	c.-217+1029_422del c.-217+1873_422del	ClinVar
17	g.70175146A>C	CA400859877	KCNJ2	c.107A>C (p.Lys36Thr)	gnomAD v4
17	g.70175146A>G	CA400859878	KCNJ2	c.107A>G (p.Lys36Arg)
17	g.70175146A>T	CA400859879	KCNJ2	c.107A>T (p.Lys36Ile)
17	g.70175147A>C	CA400859880	KCNJ2	c.108A>C (p.Lys36Asn)
17	g.70175147A>G	CA501700214	KCNJ2	c.108A>G (p.Lys36=)
17	g.70175147A>T	CA400859881	KCNJ2	c.108A>T (p.Lys36Asn)
17	g.70175148del	CA2639594070	KCNJ2	c.109del (p.Val37SerfsTer12)	gnomAD v4
17	g.70175148G>A	CA400859884	KCNJ2	c.109G>A (p.Val37Ile)
17	g.70175148G>C	CA400859883	KCNJ2	c.109G>C (p.Val37Leu)
17	g.70175148G>T	CA400859882	KCNJ2	c.109G>T (p.Val37Phe)
17	g.70175149T>A	CA400859885	KCNJ2	c.110T>A (p.Val37Asp)
17	g.70175149T>C	CA400859886	KCNJ2	c.110T>C (p.Val37Ala)
17	g.70175149T>G	CA400859887	KCNJ2	c.110T>G (p.Val37Gly)
17	g.70175150C>A	CA501700222	KCNJ2	c.111C>A (p.Val37=)
17	g.70175150C>G	CA501700217	KCNJ2	c.111C>G (p.Val37=)
17	g.70175150C>T	CA501700219	KCNJ2	c.111C>T (p.Val37=)	gnomAD v4
17	g.70175151C>A	CA400859888	KCNJ2	c.112C>A (p.His38Asn)
17	g.70175151C=	CA2272996447	KCNJ2	c.112C= (p.His38=)
17	g.70175151C>G	CA400859889	KCNJ2	c.112C>G (p.His38Asp)
17	g.70175151C>T	CA400859890	KCNJ2	c.112C>T (p.His38Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.70175152A>C	CA400859891	KCNJ2	c.113A>C (p.His38Pro)
17	g.70175152A>G	CA400859893	KCNJ2	c.113A>G (p.His38Arg)
17	g.70175152A>T	CA400859892	KCNJ2	c.113A>T (p.His38Leu)
17	g.70175153C>A	CA400859894	KCNJ2	c.114C>A (p.His38Gln)
17	g.70175153C>G	CA400859895	KCNJ2	c.114C>G (p.His38Gln)
17	g.70175153C>T	CA501700227	KCNJ2	c.114C>T (p.His38=)	ClinVar gnomAD v4
17	g.70175154A=	CA2272996448	KCNJ2	c.115A= (p.Thr39=)
17	g.70175154A>C	CA400859896	KCNJ2	c.115A>C (p.Thr39Pro)	dbSNP
17	g.70175154A>G	CA400859897	KCNJ2	c.115A>G (p.Thr39Ala)	gnomAD v4
17	g.70175154A>T	CA400859898	KCNJ2	c.115A>T (p.Thr39Ser)
17	g.70175155C>A	CA400859899	KCNJ2	c.116C>A (p.Thr39Asn)
17	g.70175155C=	CA2272996449	KCNJ2	c.116C= (p.Thr39=)
17	g.70175155C>G	CA400859900	KCNJ2	c.116C>G (p.Thr39Ser)
17	g.70175155C>T	CA400859901	KCNJ2	c.116C>T (p.Thr39Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175156C>A	CA501700231	KCNJ2	c.117C>A (p.Thr39=)
17	g.70175156C>G	CA501700234	KCNJ2	c.117C>G (p.Thr39=)
17	g.70175156C>T	CA501700237	KCNJ2	c.117C>T (p.Thr39=)
17	g.70175157C>A	CA501700238	KCNJ2	c.118C>A (p.Arg40=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175157C=	CA2272996450	KCNJ2	c.118C= (p.Arg40=)
17	g.70175157C>G	CA400859902	KCNJ2	c.118C>G (p.Arg40Gly)
17	g.70175157C>T	CA302012	KCNJ2	c.118C>T (p.Arg40Ter)	ClinVar dbSNP
17	g.70175158G>A	CA8738692	KCNJ2	c.119G>A (p.Arg40Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175158G>C	CA16615669	KCNJ2	c.119G>C (p.Arg40Pro)	ClinVar dbSNP
17	g.70175158G=	CA2272996451	KCNJ2	c.119G= (p.Arg40=)
17	g.70175158G>T	CA400859903	KCNJ2	c.119G>T (p.Arg40Leu)	ClinVar gnomAD v4
17	g.70175158_70175161delinsGACA	CA2272996452	KCNJ2	c.119_122delinsGACA (p.Arg40=)
17	g.70175159A=	CA2272996453	KCNJ2	c.120A= (p.Arg40=)
17	g.70175159A>C	CA501700242	KCNJ2	c.120A>C (p.Arg40=)
17	g.70175159A>G	CA501700244	KCNJ2	c.120A>G (p.Arg40=)	dbSNP gnomAD v4

Number of alleles fetched