Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
11	g.128911818T>A	CA383248963	KCNJ5	c.545T>A (p.Met182Lys)
11	g.128911818T>C	CA383248966	KCNJ5	c.545T>C (p.Met182Thr)	dbSNP
11	g.128911818T>G	CA383248969	KCNJ5	c.545T>G (p.Met182Arg)
11	g.128911818T=	CA2008292780	KCNJ5	c.545T= (p.Met182=)
11	g.128911819G>A	CA383248974	KCNJ5	c.546G>A (p.Met182Ile)
11	g.128911819G>C	CA383248977	KCNJ5	c.546G>C (p.Met182Ile)
11	g.128911819G=	CA2008292783	KCNJ5	c.546G= (p.Met182=)
11	g.128911819G>T	CA6357896	KCNJ5	c.546G>T (p.Met182Ile)	ClinVar dbSNP ExAC gnomAD v4
11	g.128911820G>A	CA383248981	KCNJ5	c.547G>A (p.Val183Met)	gnomAD v4
11	g.128911820G>C	CA383248984	KCNJ5	c.547G>C (p.Val183Leu)
11	g.128911820G=	CA2008292785	KCNJ5	c.547G= (p.Val183=)
11	g.128911820G>T	CA230640493	KCNJ5	c.547G>T (p.Val183Leu)	dbSNP gnomAD v3 gnomAD v4
11	g.128911821T>A	CA383248989	KCNJ5	c.548T>A (p.Val183Glu)
11	g.128911821T>C	CA383248992	KCNJ5	c.548T>C (p.Val183Ala)
11	g.128911821T>G	CA383248995	KCNJ5	c.548T>G (p.Val183Gly)
11	g.128911822G>A	CA477703899	KCNJ5	c.549G>A (p.Val183=)
11	g.128911822G>C	CA477703900	KCNJ5	c.549G>C (p.Val183=)
11	g.128911822G>T	CA477703901	KCNJ5	c.549G>T (p.Val183=)	dbSNP
11	g.128911823G>A	CA383248996	KCNJ5	c.550G>A (p.Gly184Arg)
11	g.128911823G>C	CA383248997	KCNJ5	c.550G>C (p.Gly184Arg)
11	g.128911823G>T	CA383248998	KCNJ5	c.550G>T (p.Gly184Trp)	COSMIC
11	g.128911824G>A	CA383249000	KCNJ5	c.551G>A (p.Gly184Glu)	gnomAD v4
11	g.128911824G>C	CA383249001	KCNJ5	c.551G>C (p.Gly184Ala)
11	g.128911824G>T	CA383249003	KCNJ5	c.551G>T (p.Gly184Val)	gnomAD v4
11	g.128911825G>A	CA477703902	KCNJ5	c.552G>A (p.Gly184=)
11	g.128911825G>C	CA477703904	KCNJ5	c.552G>C (p.Gly184=)
11	g.128911825G>T	CA477703903	KCNJ5	c.552G>T (p.Gly184=)	gnomAD v4
11	g.128911826T>A	CA383249011	KCNJ5	c.553T>A (p.Cys185Ser)
11	g.128911826T>C	CA383249006	KCNJ5	c.553T>C (p.Cys185Arg)
11	g.128911826T>G	CA383249009	KCNJ5	c.553T>G (p.Cys185Gly)
11	g.128911827G>A	CA383249016	KCNJ5	c.554G>A (p.Cys185Tyr)	ClinVar
11	g.128911827G>C	CA383249019	KCNJ5	c.554G>C (p.Cys185Ser)	ClinVar gnomAD v4
11	g.128911827G=	CA2008292787	KCNJ5	c.554G= (p.Cys185=)
11	g.128911827G>T	CA6357897	KCNJ5	c.554G>T (p.Cys185Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11	g.128911828C>A	CA383249023	KCNJ5	c.555C>A (p.Cys185Ter)	dbSNP gnomAD v2 gnomAD v4
11	g.128911828C=	CA2008292792	KCNJ5	c.555C= (p.Cys185=)
11	g.128911828C>G	CA383249026	KCNJ5	c.555C>G (p.Cys185Trp)
11	g.128911828C>T	CA477703906	KCNJ5	c.555C>T (p.Cys185=)	gnomAD v4
11	g.128911829A=	CA2008292796	KCNJ5	c.556A= (p.Met186=)
11	g.128911829A>C	CA383249033	KCNJ5	c.556A>C (p.Met186Leu)
11	g.128911829A>G	CA383249030	KCNJ5	c.556A>G (p.Met186Val)
11	g.128911829A>T	CA383249028	KCNJ5	c.556A>T (p.Met186Leu)	dbSNP gnomAD v3 gnomAD v4
11	g.128911830T>A	CA383249035	KCNJ5	c.557T>A (p.Met186Lys)
11	g.128911830T>C	CA383249037	KCNJ5	c.557T>C (p.Met186Thr)	gnomAD v4
11	g.128911830T>G	CA383249040	KCNJ5	c.557T>G (p.Met186Arg)
11	g.128911831G>A	CA383249044	KCNJ5	c.558G>A (p.Met186Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
11	g.128911831G>C	CA383249046	KCNJ5	c.558G>C (p.Met186Ile)
11	g.128911831G=	CA2008292798	KCNJ5	c.558G= (p.Met186=)
11	g.128911831G>T	CA383249048	KCNJ5	c.558G>T (p.Met186Ile)
11	g.128911832T>A	CA383249053	KCNJ5	c.559T>A (p.Phe187Ile)

Number of alleles fetched