Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045851dup	CA2013431424	KCNA5	c.1704dup (p.Thr569AspfsTer19)	ClinVar dbSNP gnomAD v4
12	g.5045851del	CA919011889	KCNA5	c.1704del (p.Thr569ProfsTer15)	dbSNP gnomAD v4
12	g.5045847G>A	CA383467041	KCNA5	c.1700G>A (p.Gly567Glu)	ClinVar dbSNP gnomAD v4
12	g.5045847G>C	CA383467042	KCNA5	c.1700G>C (p.Gly567Ala)
12	g.5045847G=	CA2013431426	KCNA5	c.1700G= (p.Gly567=)
12	g.5045847G>T	CA383467043	KCNA5	c.1700G>T (p.Gly567Val)
12	g.5045848G>A	CA6399926	KCNA5	c.1701G>A (p.Gly567=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045848G>C	CA478095863	KCNA5	c.1701G>C (p.Gly567=)
12	g.5045848G=	CA2013431427	KCNA5	c.1701G= (p.Gly567=)
12	g.5045848G>T	CA478095864	KCNA5	c.1701G>T (p.Gly567=)	COSMIC
12	g.5045849G>A	CA383467045	KCNA5	c.1702G>A (p.Gly568Arg)	dbSNP gnomAD v4
12	g.5045849G>C	CA383467046	KCNA5	c.1702G>C (p.Gly568Arg)
12	g.5045849G=	CA2013431428	KCNA5	c.1702G= (p.Gly568=)
12	g.5045849G>T	CA383467044	KCNA5	c.1702G>T (p.Gly568Trp)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045850G>A	CA383467047	KCNA5	c.1703G>A (p.Gly568Glu)	gnomAD v4
12	g.5045850G>C	CA6399928	KCNA5	c.1703G>C (p.Gly568Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045850G=	CA2013431429	KCNA5	c.1703G= (p.Gly568=)
12	g.5045850G>T	CA6399927	KCNA5	c.1703G>T (p.Gly568Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045851G>A	CA478095866	KCNA5	c.1704G>A (p.Gly568=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045851G>C	CA478095867	KCNA5	c.1704G>C (p.Gly568=)
12	g.5045851G=	CA2013431430	KCNA5	c.1704G= (p.Gly568=)
12	g.5045851G>T	CA478095868	KCNA5	c.1704G>T (p.Gly568=)	dbSNP gnomAD v4
12	g.5045852A>C	CA383467048	KCNA5	c.1705A>C (p.Thr569Pro)
12	g.5045852A>G	CA383467049	KCNA5	c.1705A>G (p.Thr569Ala)
12	g.5045852A>T	CA383467050	KCNA5	c.1705A>T (p.Thr569Ser)	gnomAD v4
12	g.5045853C>A	CA383467051	KCNA5	c.1706C>A (p.Thr569Asn)
12	g.5045853C=	CA2013431431	KCNA5	c.1706C= (p.Thr569=)
12	g.5045853C>G	CA383467052	KCNA5	c.1706C>G (p.Thr569Ser)
12	g.5045853C>T	CA383467053	KCNA5	c.1706C>T (p.Thr569Ile)	dbSNP
12	g.5045854C>A	CA231869311	KCNA5	c.1707C>A (p.Thr569=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045854C=	CA2013431432	KCNA5	c.1707C= (p.Thr569=)
12	g.5045854C>G	CA478095870	KCNA5	c.1707C>G (p.Thr569=)
12	g.5045854C>T	CA6399929	KCNA5	c.1707C>T (p.Thr569=)	dbSNP ExAC
12	g.5045855C>A	CA383467054	KCNA5	c.1708C>A (p.Leu570Met)
12	g.5045855C=	CA2013431433	KCNA5	c.1708C= (p.Leu570=)
12	g.5045855C>G	CA6399930	KCNA5	c.1708C>G (p.Leu570Val)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045855C>T	CA478095871	KCNA5	c.1708C>T (p.Leu570=)
12	g.5045856T>A	CA383467057	KCNA5	c.1709T>A (p.Leu570Gln)
12	g.5045856T>C	CA383467056	KCNA5	c.1709T>C (p.Leu570Pro)	COSMIC
12	g.5045856T>G	CA383467055	KCNA5	c.1709T>G (p.Leu570Arg)
12	g.5045857G>A	CA478095875	KCNA5	c.1710G>A (p.Leu570=)
12	g.5045857G>C	CA478095876	KCNA5	c.1710G>C (p.Leu570=)
12	g.5045857G>T	CA478095877	KCNA5	c.1710G>T (p.Leu570=)
12	g.5045858G>A	CA383467058	KCNA5	c.1711G>A (p.Glu571Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045858G>C	CA383467059	KCNA5	c.1711G>C (p.Glu571Gln)	dbSNP
12	g.5045858G=	CA2013431434	KCNA5	c.1711G= (p.Glu571=)
12	g.5045858G>T	CA383467060	KCNA5	c.1711G>T (p.Glu571Ter)
12	g.5045859A>C	CA383467061	KCNA5	c.1712A>C (p.Glu571Ala)
12	g.5045859A>G	CA383467062	KCNA5	c.1712A>G (p.Glu571Gly)
12	g.5045859A>T	CA383467063	KCNA5	c.1712A>T (p.Glu571Val)

Number of alleles fetched