Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35576171T>A	CA119063	PEX12	c.691A>T (p.Lys231Ter)	ClinVar dbSNP
17	g.35576171T>C	CA399137579	PEX12	c.691A>G (p.Lys231Glu)
17	g.35576171T>G	CA399137580	PEX12	c.691A>C (p.Lys231Gln)
17	g.35576171T=	CA2257586897	PEX12	c.691A= (p.Lys231=)
17	g.35576171_35576175del	CA913002653	PEX12	c.687_691del (p.Ser229ArgfsTer?)
17	g.35576171_35576175delinsTCTCA	CA2257586898	PEX12	c.687_691delinsTGAGA (p.Ser229=)
17	g.35576172C>A	CA399137581	PEX12	c.690G>T (p.Glu230Asp)
17	g.35576172C>G	CA399137582	PEX12	c.690G>C (p.Glu230Asp)
17	g.35576172C>T	CA499795134	PEX12	c.690G>A (p.Glu230=)
17	g.35576174_35576177del	CA658824204	PEX12	c.687_690del (p.Ser229ArgfsTer3)	ClinVar dbSNP
17	g.35576173T>A	CA399137584	PEX12	c.689A>T (p.Glu230Val)
17	g.35576173T>C	CA399137585	PEX12	c.689A>G (p.Glu230Gly)
17	g.35576173T>G	CA399137583	PEX12	c.689A>C (p.Glu230Ala)
17	g.35576174C>A	CA399137586	PEX12	c.688G>T (p.Glu230Ter)
17	g.35576174C=	CA2257586905	PEX12	c.688G= (p.Glu230=)
17	g.35576174C>G	CA399137587	PEX12	c.688G>C (p.Glu230Gln)
17	g.35576174C>T	CA290068489	PEX12	c.688G>A (p.Glu230Lys)	ClinVar dbSNP COSMIC
17	g.35576174_35576178delinsCACTA	CA2257586908	PEX12	c.684_688delinsTAGTG (p.Val228=)
17	g.35576175A>C	CA399137588	PEX12	c.687T>G (p.Ser229Arg)	gnomAD v4
17	g.35576175A>G	CA499795135	PEX12	c.687T>C (p.Ser229=)	gnomAD v4
17	g.35576175A>T	CA399137589	PEX12	c.687T>A (p.Ser229Arg)	gnomAD v4
17	g.35576177_35576180del	CA8504856	PEX12	c.684_687del (p.Ser229ArgfsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35576176C>A	CA399137590	PEX12	c.686G>T (p.Ser229Ile)
17	g.35576176C=	CA2257586916	PEX12	c.686G= (p.Ser229=)
17	g.35576176C>G	CA399137591	PEX12	c.686G>C (p.Ser229Thr)
17	g.35576176C>T	CA399137592	PEX12	c.686G>A (p.Ser229Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.35576177T>A	CA399137595	PEX12	c.685A>T (p.Ser229Cys)
17	g.35576177T>C	CA399137594	PEX12	c.685A>G (p.Ser229Gly)
17	g.35576177T>G	CA399137593	PEX12	c.685A>C (p.Ser229Arg)
17	g.35576178A>C	CA499795136	PEX12	c.684T>G (p.Val228=)
17	g.35576178A>G	CA499795137	PEX12	c.684T>C (p.Val228=)	ClinVar gnomAD v4
17	g.35576178A>T	CA499795138	PEX12	c.684T>A (p.Val228=)
17	g.35576179A>C	CA399137596	PEX12	c.683T>G (p.Val228Gly)
17	g.35576179A>G	CA399137597	PEX12	c.683T>C (p.Val228Ala)
17	g.35576179A>T	CA399137598	PEX12	c.683T>A (p.Val228Asp)
17	g.35576180C>A	CA399137599	PEX12	c.682G>T (p.Val228Phe)
17	g.35576180C>G	CA399137600	PEX12	c.682G>C (p.Val228Leu)
17	g.35576180C>T	CA399137601	PEX12	c.682G>A (p.Val228Ile)
17	g.35576181A>C	CA399137602	PEX12	c.681T>G (p.Ser227Arg)
17	g.35576181A>G	CA499795139	PEX12	c.681T>C (p.Ser227=)
17	g.35576181A>T	CA399137603	PEX12	c.681T>A (p.Ser227Arg)
17	g.35576182C>A	CA399137604	PEX12	c.681-1G>T (n.681-1G>T)
17	g.35576182C=	CA2257586918	PEX12	c.681-1G= (n.681-1G=)
17	g.35576182C>G	CA399137605	PEX12	c.681-1G>C (n.681-1G>C)
17	g.35576182C>T	CA399137606	PEX12	c.681-1G>A (n.681-1G>A)	dbSNP gnomAD v4
17	g.35576182_35576184delinsCTG	CA2257586917	PEX12	c.681-3_681-1delinsCAG (n.681-3_681-1delinsCAG)
17	g.35576183T>A	CA399137608	PEX12	c.681-2A>T (n.681-2A>T)
17	g.35576183T>C	CA399137607	PEX12	c.681-2A>G (n.681-2A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.35576183T>G	CA8504857	PEX12	c.681-2A>C (n.681-2A>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576183T=	CA2257586924	PEX12	c.681-2A= (n.681-2A=)

Number of alleles fetched