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.70175198C>A	CA400859997	KCNJ2	c.159C>A (p.His53Gln)
17	g.70175198C>G	CA400859998	KCNJ2	c.159C>G (p.His53Gln)
17	g.70175198C>T	CA501700316	KCNJ2	c.159C>T (p.His53=)
17	g.70175199T>A	CA400859999	KCNJ2	c.160T>A (p.Cys54Ser)
17	g.70175199T>C	CA400860000	KCNJ2	c.160T>C (p.Cys54Arg)
17	g.70175199T>G	CA400860001	KCNJ2	c.160T>G (p.Cys54Gly)	ClinVar dbSNP
17	g.70175200G>A	CA400860002	KCNJ2	c.161G>A (p.Cys54Tyr)
17	g.70175200G>C	CA400860003	KCNJ2	c.161G>C (p.Cys54Ser)
17	g.70175200G=	CA2272996466	KCNJ2	c.161G= (p.Cys54=)
17	g.70175200G>T	CA145011	KCNJ2	c.161G>T (p.Cys54Phe)	ClinVar dbSNP
17	g.70175201T>A	CA400860004	KCNJ2	c.162T>A (p.Cys54Ter)
17	g.70175201T>C	CA501700317	KCNJ2	c.162T>C (p.Cys54=)
17	g.70175201T>G	CA400860005	KCNJ2	c.162T>G (p.Cys54Trp)
17	g.70175201T=	CA2272996467	KCNJ2	c.162T= (p.Cys54=)
17	g.70175202A>C	CA400860007	KCNJ2	c.163A>C (p.Asn55His)
17	g.70175202A>G	CA400860008	KCNJ2	c.163A>G (p.Asn55Asp)
17	g.70175202A>T	CA400860006	KCNJ2	c.163A>T (p.Asn55Tyr)
17	g.70175203dup	CA293702902	KCNJ2	c.164dup (p.Asn55LysfsTer9)	dbSNP
17	g.70175203A=	CA2272996468	KCNJ2	c.164A= (p.Asn55=)
17	g.70175203A>C	CA400860009	KCNJ2	c.164A>C (p.Asn55Thr)
17	g.70175203A>G	CA400860010	KCNJ2	c.164A>G (p.Asn55Ser)
17	g.70175203A>T	CA400860011	KCNJ2	c.164A>T (p.Asn55Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.70175204T>A	CA400860012	KCNJ2	c.165T>A (p.Asn55Lys)
17	g.70175204T>C	CA8738696	KCNJ2	c.165T>C (p.Asn55=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175204T>G	CA400860013	KCNJ2	c.165T>G (p.Asn55Lys)
17	g.70175204T=	CA2272996469	KCNJ2	c.165T= (p.Asn55=)
17	g.70175205G>A	CA400860014	KCNJ2	c.166G>A (p.Val56Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.70175205G>C	CA400860015	KCNJ2	c.166G>C (p.Val56Leu)
17	g.70175205G=	CA2272996470	KCNJ2	c.166G= (p.Val56=)
17	g.70175205G>T	CA400860016	KCNJ2	c.166G>T (p.Val56Phe)
17	g.70175206T>A	CA400860017	KCNJ2	c.167T>A (p.Val56Asp)
17	g.70175206T>C	CA400860018	KCNJ2	c.167T>C (p.Val56Ala)	dbSNP
17	g.70175206T>G	CA400860019	KCNJ2	c.167T>G (p.Val56Gly)
17	g.70175206T=	CA2272996471	KCNJ2	c.167T= (p.Val56=)
17	g.70175207T>A	CA501700318	KCNJ2	c.168T>A (p.Val56=)
17	g.70175207T>C	CA8738697	KCNJ2	c.168T>C (p.Val56=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.70175207T>G	CA501700319	KCNJ2	c.168T>G (p.Val56=)
17	g.70175207T=	CA2272996472	KCNJ2	c.168T= (p.Val56=)
17	g.70175208C>A	CA400860021	KCNJ2	c.169C>A (p.Gln57Lys)
17	g.70175208C>G	CA400860020	KCNJ2	c.169C>G (p.Gln57Glu)
17	g.70175208C>T	CA400860022	KCNJ2	c.169C>T (p.Gln57Ter)	ClinVar
17	g.70175209A=	CA2272996473	KCNJ2	c.170A= (p.Gln57=)
17	g.70175209A>C	CA400860023	KCNJ2	c.170A>C (p.Gln57Pro)
17	g.70175209A>G	CA400860024	KCNJ2	c.170A>G (p.Gln57Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.70175209A>T	CA400860025	KCNJ2	c.170A>T (p.Gln57Leu)
17	g.70175210G>A	CA501700320	KCNJ2	c.171G>A (p.Gln57=)
17	g.70175210G>C	CA400860026	KCNJ2	c.171G>C (p.Gln57His)	dbSNP gnomAD v3 gnomAD v4
17	g.70175210G=	CA2272996474	KCNJ2	c.171G= (p.Gln57=)
17	g.70175210G>T	CA400860027	KCNJ2	c.171G>T (p.Gln57His)	ClinVar

Number of alleles fetched