Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
12	g.5045083G>A	CA478095327	KCNA5	c.936G>A (p.Val312=)	gnomAD v4
12	g.5045083G>C	CA478095325	KCNA5	c.936G>C (p.Val312=)
12	g.5045083G=	CA2013431059	KCNA5	c.936G= (p.Val312=)
12	g.5045083G>T	CA478095324	KCNA5	c.936G>T (p.Val312=)
12	g.5045084_5045089dup	CA2617209909	KCNA5	c.937_942dup (p.Pro314_Leu315insAlaPro)	dbSNP gnomAD v4
12	g.5045084G>A	CA383465446	KCNA5	c.937G>A (p.Ala313Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045084G>C	CA231868219	KCNA5	c.937G>C (p.Ala313Pro)	dbSNP gnomAD v4
12	g.5045084G=	CA2013431060	KCNA5	c.937G= (p.Ala313=)
12	g.5045084G>T	CA383465445	KCNA5	c.937G>T (p.Ala313Ser)	gnomAD v4
12	g.5045084_5045087dup	CA1139662475	KCNA5	c.937_940dup (p.Pro314ArgfsTer?)	ClinVar dbSNP
12	g.5045085C>A	CA383465447	KCNA5	c.938C>A (p.Ala313Glu)
12	g.5045085C>G	CA383465448	KCNA5	c.938C>G (p.Ala313Gly)
12	g.5045085C>T	CA383465449	KCNA5	c.938C>T (p.Ala313Val)	gnomAD v4
12	g.5045086A>C	CA478095328	KCNA5	c.939A>C (p.Ala313=)
12	g.5045086A>G	CA478095330	KCNA5	c.939A>G (p.Ala313=)
12	g.5045086A>T	CA478095329	KCNA5	c.939A>T (p.Ala313=)
12	g.5045087C>A	CA383465450	KCNA5	c.940C>A (p.Pro314Thr)
12	g.5045087C>G	CA383465451	KCNA5	c.940C>G (p.Pro314Ala)
12	g.5045087C>T	CA383465452	KCNA5	c.940C>T (p.Pro314Ser)	gnomAD v4
12	g.5045088C>A	CA383465453	KCNA5	c.941C>A (p.Pro314Gln)
12	g.5045088C=	CA2013431061	KCNA5	c.941C= (p.Pro314=)

Number of alleles fetched