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.70175423C>A	CA400860481	KCNJ2	c.384C>A (p.Ser128Arg)
17	g.70175423C>G	CA400860482	KCNJ2	c.384C>G (p.Ser128Arg)
17	g.70175423C>T	CA501700537	KCNJ2	c.384C>T (p.Ser128=)	gnomAD v4
17	g.70175424T>A	CA400860483	KCNJ2	c.385T>A (p.Phe129Ile)
17	g.70175424T>C	CA400860484	KCNJ2	c.385T>C (p.Phe129Leu)
17	g.70175424T>G	CA400860485	KCNJ2	c.385T>G (p.Phe129Val)
17	g.70175425T>A	CA400860488	KCNJ2	c.386T>A (p.Phe129Tyr)
17	g.70175425T>C	CA400860487	KCNJ2	c.386T>C (p.Phe129Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175425T>G	CA400860486	KCNJ2	c.386T>G (p.Phe129Cys)	gnomAD v4
17	g.70175425T=	CA2272996556	KCNJ2	c.386T= (p.Phe129=)
17	g.70175426C>A	CA400860489	KCNJ2	c.387C>A (p.Phe129Leu)
17	g.70175426C=	CA2272996557	KCNJ2	c.387C= (p.Phe129=)
17	g.70175426C>G	CA400860490	KCNJ2	c.387C>G (p.Phe129Leu)
17	g.70175426C>T	CA501700542	KCNJ2	c.387C>T (p.Phe129=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175427A=	CA2272996558	KCNJ2	c.388A= (p.Thr130=)
17	g.70175427A>C	CA400860491	KCNJ2	c.388A>C (p.Thr130Pro)
17	g.70175427A>G	CA400860492	KCNJ2	c.388A>G (p.Thr130Ala)	ClinVar dbSNP
17	g.70175427A>T	CA400860493	KCNJ2	c.388A>T (p.Thr130Ser)
17	g.70175428C>A	CA400860494	KCNJ2	c.389C>A (p.Thr130Lys)
17	g.70175428C=	CA2272996559	KCNJ2	c.389C= (p.Thr130=)
17	g.70175428C>G	CA400860495	KCNJ2	c.389C>G (p.Thr130Arg)
17	g.70175428C>T	CA8738722	KCNJ2	c.389C>T (p.Thr130Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175429G>A	CA8738723	KCNJ2	c.390G>A (p.Thr130=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175429G>C	CA501700551	KCNJ2	c.390G>C (p.Thr130=)
17	g.70175429G=	CA2272996560	KCNJ2	c.390G= (p.Thr130=)
17	g.70175429G>T	CA501700552	KCNJ2	c.390G>T (p.Thr130=)
17	g.70175430G>A	CA400860496	KCNJ2	c.391G>A (p.Ala131Thr)	COSMIC
17	g.70175430G>C	CA400860497	KCNJ2	c.391G>C (p.Ala131Pro)
17	g.70175430G>T	CA400860498	KCNJ2	c.391G>T (p.Ala131Ser)
17	g.70175431C>A	CA400860499	KCNJ2	c.392C>A (p.Ala131Asp)
17	g.70175431C>G	CA400860500	KCNJ2	c.392C>G (p.Ala131Gly)
17	g.70175431C>T	CA400860501	KCNJ2	c.392C>T (p.Ala131Val)
17	g.70175432T>A	CA501700558	KCNJ2	c.393T>A (p.Ala131=)
17	g.70175432T>C	CA293702914	KCNJ2	c.393T>C (p.Ala131=)	dbSNP gnomAD v4
17	g.70175432T>G	CA501700559	KCNJ2	c.393T>G (p.Ala131=)
17	g.70175432T=	CA2272996561	KCNJ2	c.393T= (p.Ala131=)
17	g.70175433G>A	CA400860502	KCNJ2	c.394G>A (p.Ala132Thr)	ClinVar dbSNP
17	g.70175433G>C	CA400860503	KCNJ2	c.394G>C (p.Ala132Pro)
17	g.70175433G=	CA2272996562	KCNJ2	c.394G= (p.Ala132=)
17	g.70175433G>T	CA400860504	KCNJ2	c.394G>T (p.Ala132Ser)
17	g.70175433_70175435dup	CA302076	KCNJ2	c.394_396dup (p.Ala132_Phe133insAla)	ClinVar dbSNP
17	g.70175434C>A	CA400860505	KCNJ2	c.395C>A (p.Ala132Asp)
17	g.70175434C=	CA2272996563	KCNJ2	c.395C= (p.Ala132=)
17	g.70175434C>G	CA400860506	KCNJ2	c.395C>G (p.Ala132Gly)	dbSNP gnomAD v2
17	g.70175434C>T	CA400860507	KCNJ2	c.395C>T (p.Ala132Val)
17	g.70175435C>A	CA501700564	KCNJ2	c.396C>A (p.Ala132=)
17	g.70175435C>G	CA501700566	KCNJ2	c.396C>G (p.Ala132=)
17	g.70175435C>T	CA501700565	KCNJ2	c.396C>T (p.Ala132=)
17	g.70175436T>A	CA400860508	KCNJ2	c.397T>A (p.Phe133Ile)

Number of alleles fetched