Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045070C>A	CA383465421	KCNA5	c.923C>A (p.Ser308Tyr)
12	g.5045070C>G	CA383465422	KCNA5	c.923C>G (p.Ser308Cys)
12	g.5045070C>T	CA383465423	KCNA5	c.923C>T (p.Ser308Phe)
12	g.5045071T>A	CA478095309	KCNA5	c.924T>A (p.Ser308=)
12	g.5045071T>C	CA478095310	KCNA5	c.924T>C (p.Ser308=)	dbSNP gnomAD v2
12	g.5045071T>G	CA478095311	KCNA5	c.924T>G (p.Ser308=)
12	g.5045071T=	CA2013431051	KCNA5	c.924T= (p.Ser308=)
12	g.5045072G>A	CA383465424	KCNA5	c.925G>A (p.Gly309Ser)	gnomAD v4
12	g.5045072G>C	CA383465425	KCNA5	c.925G>C (p.Gly309Arg)
12	g.5045072G>T	CA383465426	KCNA5	c.925G>T (p.Gly309Cys)
12	g.5045073G>A	CA6399759	KCNA5	c.926G>A (p.Gly309Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045073G>C	CA383465427	KCNA5	c.926G>C (p.Gly309Ala)
12	g.5045073G=	CA2013431052	KCNA5	c.926G= (p.Gly309=)
12	g.5045073G>T	CA383465428	KCNA5	c.926G>T (p.Gly309Val)
12	g.5045074C>A	CA478095314	KCNA5	c.927C>A (p.Gly309=)	dbSNP
12	g.5045074C=	CA2013431053	KCNA5	c.927C= (p.Gly309=)
12	g.5045074C>G	CA478095315	KCNA5	c.927C>G (p.Gly309=)
12	g.5045074C>T	CA6399760	KCNA5	c.927C>T (p.Gly309=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045075C>A	CA383465429	KCNA5	c.928C>A (p.Pro310Thr)
12	g.5045075C>G	CA383465430	KCNA5	c.928C>G (p.Pro310Ala)
12	g.5045075C>T	CA383465431	KCNA5	c.928C>T (p.Pro310Ser)
12	g.5045076C>A	CA383465432	KCNA5	c.929C>A (p.Pro310His)
12	g.5045076C=	CA1630855460	KCNA5	c.929C= (p.Pro310=)
12	g.5045076C>G	CA383465433	KCNA5	c.929C>G (p.Pro310Arg)	dbSNP
12	g.5045076C>T	CA199947	KCNA5	c.929C>T (p.Pro310Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045077T>A	CA478095319	KCNA5	c.930T>A (p.Pro310=)	dbSNP COSMIC
12	g.5045077T>C	CA478095318	KCNA5	c.930T>C (p.Pro310=)
12	g.5045077T>G	CA478095317	KCNA5	c.930T>G (p.Pro310=)
12	g.5045077T=	CA2013431054	KCNA5	c.930T= (p.Pro310=)
12	g.5045078A=	CA2013431055	KCNA5	c.931A= (p.Thr311=)
12	g.5045078A>C	CA383465434	KCNA5	c.931A>C (p.Thr311Pro)
12	g.5045078A>G	CA383465436	KCNA5	c.931A>G (p.Thr311Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.5045078A>T	CA383465435	KCNA5	c.931A>T (p.Thr311Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045079C>A	CA383465437	KCNA5	c.932C>A (p.Thr311Lys)	dbSNP gnomAD v4 COSMIC
12	g.5045079C=	CA2013431056	KCNA5	c.932C= (p.Thr311=)
12	g.5045079C>G	CA383465438	KCNA5	c.932C>G (p.Thr311Arg)	gnomAD v4
12	g.5045079C>T	CA6399761	KCNA5	c.932C>T (p.Thr311Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045079_5045080del	CA2617209908	KCNA5	c.932_933del (p.Thr311SerfsTer?)	gnomAD v4
12	g.5045080_5045085dup	CA912996252	KCNA5	c.933_938dup (p.Ala313_Pro314insValAla)	gnomAD v4
12	g.5045080G>A	CA478095322	KCNA5	c.933G>A (p.Thr311=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045080G>C	CA6399762	KCNA5	c.933G>C (p.Thr311=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045080G=	CA2013431057	KCNA5	c.933G= (p.Thr311=)
12	g.5045080G>T	CA478095321	KCNA5	c.933G>T (p.Thr311=)	gnomAD v4
12	g.5045081G>A	CA383465439	KCNA5	c.934G>A (p.Val312Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045081G>C	CA383465440	KCNA5	c.934G>C (p.Val312Leu)	gnomAD v4
12	g.5045081G=	CA2013431058	KCNA5	c.934G= (p.Val312=)
12	g.5045081G>T	CA383465441	KCNA5	c.934G>T (p.Val312Leu)
12	g.5045082T>A	CA383465442	KCNA5	c.935T>A (p.Val312Glu)
12	g.5045082T>C	CA383465443	KCNA5	c.935T>C (p.Val312Ala)
12	g.5045082T>G	CA383465444	KCNA5	c.935T>G (p.Val312Gly)

Number of alleles fetched