Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045108G>A	CA6399769	KCNA5	c.961G>A (p.Ala321Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045108G>C	CA383465487	KCNA5	c.961G>C (p.Ala321Pro)
12	g.5045108G=	CA2013431071	KCNA5	c.961G= (p.Ala321=)
12	g.5045108G>T	CA383465488	KCNA5	c.961G>T (p.Ala321Ser)
12	g.5045109C>A	CA383465489	KCNA5	c.962C>A (p.Ala321Asp)
12	g.5045109C=	CA2013431072	KCNA5	c.962C= (p.Ala321=)
12	g.5045109C>G	CA383465490	KCNA5	c.962C>G (p.Ala321Gly)
12	g.5045109C>T	CA6399770	KCNA5	c.962C>T (p.Ala321Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045110C>A	CA6399771	KCNA5	c.963C>A (p.Ala321=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045110C=	CA2013431073	KCNA5	c.963C= (p.Ala321=)
12	g.5045110C>G	CA478095487	KCNA5	c.963C>G (p.Ala321=)	dbSNP gnomAD v4
12	g.5045110C>T	CA478095486	KCNA5	c.963C>T (p.Ala321=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045111G>A	CA6399773	KCNA5	c.964G>A (p.Asp322Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045111G>C	CA6399772	KCNA5	c.964G>C (p.Asp322His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045111G=	CA2013431074	KCNA5	c.964G= (p.Asp322=)
12	g.5045111G>T	CA6399774	KCNA5	c.964G>T (p.Asp322Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045112A=	CA2013431075	KCNA5	c.965A= (p.Asp322=)
12	g.5045112A>C	CA383465491	KCNA5	c.965A>C (p.Asp322Ala)
12	g.5045112A>G	CA383465492	KCNA5	c.965A>G (p.Asp322Gly)	gnomAD v4
12	g.5045112A>T	CA231868287	KCNA5	c.965A>T (p.Asp322Val)	dbSNP
12	g.5045112_5045113delinsAC	CA2013431076	KCNA5	c.965_966delinsAC (p.Asp322=)
12	g.5045113C>A	CA383465493	KCNA5	c.966C>A (p.Asp322Glu)
12	g.5045113C=	CA2013431077	KCNA5	c.966C= (p.Asp322=)
12	g.5045113C>G	CA236721	KCNA5	c.966C>G (p.Asp322Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045113C>T	CA478095491	KCNA5	c.966C>T (p.Asp322=)
12	g.5045116dup	CA2741226806	KCNA5	c.969dup (p.Phe324LeufsTer?)
12	g.5045116del	CA2013431078	KCNA5	c.969del (p.Phe324SerfsTer?)	dbSNP
12	g.5045114C>A	CA6399776	KCNA5	c.967C>A (p.Pro323Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045114C=	CA2013431079	KCNA5	c.967C= (p.Pro323=)
12	g.5045114C>G	CA383465494	KCNA5	c.967C>G (p.Pro323Ala)	gnomAD v4
12	g.5045114C>T	CA6399775	KCNA5	c.967C>T (p.Pro323Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045115C>A	CA383465495	KCNA5	c.968C>A (p.Pro323His)	dbSNP COSMIC
12	g.5045115C=	CA2013431080	KCNA5	c.968C= (p.Pro323=)
12	g.5045115C>G	CA383465496	KCNA5	c.968C>G (p.Pro323Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045115C>T	CA383465497	KCNA5	c.968C>T (p.Pro323Leu)	dbSNP gnomAD v4
12	g.5045116C>A	CA478095497	KCNA5	c.969C>A (p.Pro323=)
12	g.5045116C=	CA2013431081	KCNA5	c.969C= (p.Pro323=)
12	g.5045116C>G	CA478095498	KCNA5	c.969C>G (p.Pro323=)
12	g.5045116C>T	CA478095496	KCNA5	c.969C>T (p.Pro323=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045117T>A	CA383465498	KCNA5	c.970T>A (p.Phe324Ile)
12	g.5045117T>C	CA383465499	KCNA5	c.970T>C (p.Phe324Leu)
12	g.5045117T>G	CA383465500	KCNA5	c.970T>G (p.Phe324Val)
12	g.5045118T>A	CA383465501	KCNA5	c.971T>A (p.Phe324Tyr)
12	g.5045118T>C	CA383465502	KCNA5	c.971T>C (p.Phe324Ser)
12	g.5045118T>G	CA383465503	KCNA5	c.971T>G (p.Phe324Cys)
12	g.5045119C>A	CA383465504	KCNA5	c.972C>A (p.Phe324Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5045119C=	CA2013431082	KCNA5	c.972C= (p.Phe324=)
12	g.5045119C>G	CA383465505	KCNA5	c.972C>G (p.Phe324Leu)
12	g.5045119C>T	CA478095501	KCNA5	c.972C>T (p.Phe324=)
12	g.5045120T>A	CA383465506	KCNA5	c.973T>A (p.Phe325Ile)

Number of alleles fetched