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.70175043G>A	CA400859468	KCNJ2	c.4G>A (p.Gly2Ser)
17	g.70175043G>C	CA400859469	KCNJ2	c.4G>C (p.Gly2Arg)	ClinVar
17	g.70175043G>T	CA400859470	KCNJ2	c.4G>T (p.Gly2Cys)
17	g.70175044G>A	CA400859471	KCNJ2	c.5G>A (p.Gly2Asp)
17	g.70175044G>C	CA400859472	KCNJ2	c.5G>C (p.Gly2Ala)
17	g.70175044G=	CA2272996399	KCNJ2	c.5G= (p.Gly2=)
17	g.70175044G>T	CA400859473	KCNJ2	c.5G>T (p.Gly2Val)
17	g.70175044_70175045insAAGTGTGCGAACCAACCGCTA	CA985917862	KCNJ2	c.5_6insAAGTGTGCGAACCAACCGCTA (p.Gly2_Ser3insSerValArgThrAsnArgTyr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175045C>A	CA501682279	KCNJ2	c.6C>A (p.Gly2=)	dbSNP
17	g.70175045C=	CA2272996400	KCNJ2	c.6C= (p.Gly2=)
17	g.70175045C>G	CA501682280	KCNJ2	c.6C>G (p.Gly2=)
17	g.70175045C>T	CA501682281	KCNJ2	c.6C>T (p.Gly2=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175046A>C	CA400859474	KCNJ2	c.7A>C (p.Ser3Arg)
17	g.70175046A>G	CA400859476	KCNJ2	c.7A>G (p.Ser3Gly)
17	g.70175046A>T	CA400859475	KCNJ2	c.7A>T (p.Ser3Cys)
17	g.70175047G>A	CA400859477	KCNJ2	c.8G>A (p.Ser3Asn)
17	g.70175047G>C	CA400859478	KCNJ2	c.8G>C (p.Ser3Thr)	ClinVar
17	g.70175047G>T	CA400859479	KCNJ2	c.8G>T (p.Ser3Ile)
17	g.70175048T>A	CA400859480	KCNJ2	c.9T>A (p.Ser3Arg)
17	g.70175048T>C	CA501682282	KCNJ2	c.9T>C (p.Ser3=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175048T>G	CA400859481	KCNJ2	c.9T>G (p.Ser3Arg)	gnomAD v4
17	g.70175048T=	CA2272996401	KCNJ2	c.9T= (p.Ser3=)
17	g.70175049G>A	CA8738677	KCNJ2	c.10G>A (p.Val4Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175049G>C	CA400859483	KCNJ2	c.10G>C (p.Val4Leu)
17	g.70175049G=	CA2272996402	KCNJ2	c.10G= (p.Val4=)
17	g.70175049G>T	CA400859482	KCNJ2	c.10G>T (p.Val4Leu)
17	g.70175050T>A	CA400859484	KCNJ2	c.11T>A (p.Val4Glu)	dbSNP
17	g.70175050T>C	CA400859485	KCNJ2	c.11T>C (p.Val4Ala)
17	g.70175050T>G	CA400859486	KCNJ2	c.11T>G (p.Val4Gly)
17	g.70175050T=	CA2272996403	KCNJ2	c.11T= (p.Val4=)
17	g.70175051G>A	CA501682283	KCNJ2	c.12G>A (p.Val4=)	dbSNP
17	g.70175051G>C	CA501682284	KCNJ2	c.12G>C (p.Val4=)
17	g.70175051G=	CA2272996404	KCNJ2	c.12G= (p.Val4=)
17	g.70175051G>T	CA501682285	KCNJ2	c.12G>T (p.Val4=)
17	g.70175052C>A	CA293702894	KCNJ2	c.13C>A (p.Arg5=)	dbSNP gnomAD v4
17	g.70175052C=	CA2272996405	KCNJ2	c.13C= (p.Arg5=)
17	g.70175052C>G	CA293702895	KCNJ2	c.13C>G (p.Arg5Gly)	ClinVar dbSNP
17	g.70175052C>T	CA400859487	KCNJ2	c.13C>T (p.Arg5Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.70175053G>A	CA8738678	KCNJ2	c.14G>A (p.Arg5Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175053G>C	CA400859488	KCNJ2	c.14G>C (p.Arg5Pro)
17	g.70175053G=	CA2272996406	KCNJ2	c.14G= (p.Arg5=)
17	g.70175053G>T	CA400859489	KCNJ2	c.14G>T (p.Arg5Leu)	gnomAD v4 COSMIC
17	g.70175054A>C	CA501682286	KCNJ2	c.15A>C (p.Arg5=)
17	g.70175054A>G	CA501682287	KCNJ2	c.15A>G (p.Arg5=)
17	g.70175054A>T	CA501682288	KCNJ2	c.15A>T (p.Arg5=)
17	g.70175055A=	CA2272996407	KCNJ2	c.16A= (p.Thr6=)
17	g.70175055A>C	CA400859490	KCNJ2	c.16A>C (p.Thr6Pro)	dbSNP
17	g.70175055A>G	CA400859491	KCNJ2	c.16A>G (p.Thr6Ala)	gnomAD v4
17	g.70175055A>T	CA400859492	KCNJ2	c.16A>T (p.Thr6Ser)

Number of alleles fetched