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.70175087_70175089del	CA2576374381	KCNJ2	c.48_50del (p.Glu16del)
17	g.70175087A=	CA2272996423	KCNJ2	c.48A= (p.Glu16=)
17	g.70175087A>C	CA400859742	KCNJ2	c.48A>C (p.Glu16Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.70175087A>G	CA501700134	KCNJ2	c.48A>G (p.Glu16=)	ClinVar dbSNP gnomAD v4
17	g.70175087A>T	CA400859743	KCNJ2	c.48A>T (p.Glu16Asp)
17	g.70175088G>A	CA400859744	KCNJ2	c.49G>A (p.Asp17Asn)	ClinVar dbSNP
17	g.70175088G>C	CA400859745	KCNJ2	c.49G>C (p.Asp17His)	dbSNP gnomAD v2 gnomAD v4
17	g.70175088G=	CA2272996424	KCNJ2	c.49G= (p.Asp17=)
17	g.70175088G>T	CA400859746	KCNJ2	c.49G>T (p.Asp17Tyr)
17	g.70175089A=	CA2272996425	KCNJ2	c.50A= (p.Asp17=)
17	g.70175089A>C	CA400859747	KCNJ2	c.50A>C (p.Asp17Ala)
17	g.70175089A>G	CA8738684	KCNJ2	c.50A>G (p.Asp17Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175089A>T	CA400859748	KCNJ2	c.50A>T (p.Asp17Val)
17	g.70175090C>A	CA400859749	KCNJ2	c.51C>A (p.Asp17Glu)
17	g.70175090C=	CA2272996426	KCNJ2	c.51C= (p.Asp17=)
17	g.70175090C>G	CA400859750	KCNJ2	c.51C>G (p.Asp17Glu)
17	g.70175090C>T	CA8738685	KCNJ2	c.51C>T (p.Asp17=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175091G>A	CA293702897	KCNJ2	c.52G>A (p.Gly18Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.70175091G>C	CA400859751	KCNJ2	c.52G>C (p.Gly18Arg)	ClinVar
17	g.70175091G=	CA2272996427	KCNJ2	c.52G= (p.Gly18=)
17	g.70175091G>T	CA400859752	KCNJ2	c.52G>T (p.Gly18Cys)	gnomAD v4 COSMIC
17	g.70175092G>A	CA400859753	KCNJ2	c.53G>A (p.Gly18Asp)
17	g.70175092G>C	CA400859754	KCNJ2	c.53G>C (p.Gly18Ala)
17	g.70175092G>T	CA400859755	KCNJ2	c.53G>T (p.Gly18Val)
17	g.70175093T>A	CA501700138	KCNJ2	c.54T>A (p.Gly18=)
17	g.70175093T>C	CA501700139	KCNJ2	c.54T>C (p.Gly18=)	gnomAD v4
17	g.70175093T>G	CA501700140	KCNJ2	c.54T>G (p.Gly18=)
17	g.70175094A>C	CA400859756	KCNJ2	c.55A>C (p.Met19Leu)
17	g.70175094A>G	CA400859757	KCNJ2	c.55A>G (p.Met19Val)	gnomAD v4
17	g.70175094A>T	CA400859758	KCNJ2	c.55A>T (p.Met19Leu)
17	g.70175095T>A	CA400859759	KCNJ2	c.56T>A (p.Met19Lys)
17	g.70175095T>C	CA400859760	KCNJ2	c.56T>C (p.Met19Thr)
17	g.70175095T>G	CA400859761	KCNJ2	c.56T>G (p.Met19Arg)
17	g.70175096G>A	CA400859763	KCNJ2	c.57G>A (p.Met19Ile)	gnomAD v4
17	g.70175096G>C	CA400859764	KCNJ2	c.57G>C (p.Met19Ile)
17	g.70175096G>T	CA400859762	KCNJ2	c.57G>T (p.Met19Ile)
17	g.70175097A>C	CA400859765	KCNJ2	c.58A>C (p.Lys20Gln)
17	g.70175097A>G	CA400859766	KCNJ2	c.58A>G (p.Lys20Glu)
17	g.70175097A>T	CA400859767	KCNJ2	c.58A>T (p.Lys20Ter)
17	g.70175098A>C	CA400859768	KCNJ2	c.59A>C (p.Lys20Thr)
17	g.70175098A>G	CA400859769	KCNJ2	c.59A>G (p.Lys20Arg)
17	g.70175098A>T	CA400859770	KCNJ2	c.59A>T (p.Lys20Met)
17	g.70175099G>A	CA8738686	KCNJ2	c.60G>A (p.Lys20=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.70175099G>C	CA400859772	KCNJ2	c.60G>C (p.Lys20Asn)
17	g.70175099G=	CA2272996428	KCNJ2	c.60G= (p.Lys20=)
17	g.70175099G>T	CA400859771	KCNJ2	c.60G>T (p.Lys20Asn)
17	g.70175100T>A	CA400859773	KCNJ2	c.61T>A (p.Leu21Met)
17	g.70175100T>C	CA501700145	KCNJ2	c.61T>C (p.Leu21=)
17	g.70175100T>G	CA400859774	KCNJ2	c.61T>G (p.Leu21Val)

Number of alleles fetched