Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35575940G>A	CA8504818	PEX12	c.922C>T (p.Arg308Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35575940G>C	CA399137092	PEX12	c.922C>G (p.Arg308Gly)
17	g.35575940G=	CA2257586459	PEX12	c.922C= (p.Arg308=)
17	g.35575940G>T	CA399137091	PEX12	c.922C>A (p.Arg308Ser)
17	g.35575941A>C	CA399137093	PEX12	c.921T>G (p.Cys307Trp)
17	g.35575941A>G	CA499903500	PEX12	c.921T>C (p.Cys307=)	ClinVar
17	g.35575941A>T	CA399137094	PEX12	c.921T>A (p.Cys307Ter)
17	g.35575944_35575945del	CA2580613431	PEX12	c.920_921del (p.Cys307SerfsTer2)	ClinVar dbSNP
17	g.35575942C>A	CA399137095	PEX12	c.920G>T (p.Cys307Phe)
17	g.35575942C>G	CA399137096	PEX12	c.920G>C (p.Cys307Ser)
17	g.35575942C>T	CA399137097	PEX12	c.920G>A (p.Cys307Tyr)
17	g.35575943A>C	CA399137098	PEX12	c.919T>G (p.Cys307Gly)
17	g.35575943A>G	CA399137099	PEX12	c.919T>C (p.Cys307Arg)
17	g.35575943A>T	CA399137100	PEX12	c.919T>A (p.Cys307Ser)
17	g.35575943_35575944insGAAGTACAACAT	CA2558239197	PEX12	c.918_919insATGTTGTACTTC (p.Leu306_Cys307insMetLeuTyrPhe)
17	g.35575944C>A	CA499903505	PEX12	c.918G>T (p.Leu306=)
17	g.35575944C>G	CA499903504	PEX12	c.918G>C (p.Leu306=)
17	g.35575944C>T	CA499903503	PEX12	c.918G>A (p.Leu306=)
17	g.35575944_35575946delinsCAG	CA2257586461	PEX12	c.916_918delinsCTG (p.Leu306=)
17	g.35575945A>C	CA399137101	PEX12	c.917T>G (p.Leu306Arg)	gnomAD v4
17	g.35575945A>G	CA399137102	PEX12	c.917T>C (p.Leu306Pro)
17	g.35575945A>T	CA399137103	PEX12	c.917T>A (p.Leu306Gln)
17	g.35575945_35575946del	CA8504819	PEX12	c.916_917del (p.Leu306ValfsTer3)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35575946G>A	CA499903509	PEX12	c.916C>T (p.Leu306=)
17	g.35575946G>C	CA399137104	PEX12	c.916C>G (p.Leu306Val)	gnomAD v4
17	g.35575946G>T	CA399137105	PEX12	c.916C>A (p.Leu306Met)
17	g.35575947T>A	CA8504820	PEX12	c.915A>T (p.Pro305=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35575947T>C	CA499903512	PEX12	c.915A>G (p.Pro305=)	dbSNP gnomAD v4
17	g.35575947T>G	CA499903510	PEX12	c.915A>C (p.Pro305=)	ClinVar
17	g.35575947T=	CA2257586465	PEX12	c.915A= (p.Pro305=)
17	g.35575948G>A	CA399137108	PEX12	c.914C>T (p.Pro305Leu)
17	g.35575948G>C	CA399137107	PEX12	c.914C>G (p.Pro305Arg)
17	g.35575948G>T	CA399137106	PEX12	c.914C>A (p.Pro305Gln)
17	g.35575949G>A	CA399137109	PEX12	c.913C>T (p.Pro305Ser)	ClinVar dbSNP gnomAD v4
17	g.35575949G>C	CA399137110	PEX12	c.913C>G (p.Pro305Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35575949G=	CA2257586468	PEX12	c.913C= (p.Pro305=)
17	g.35575949G>T	CA399137111	PEX12	c.913C>A (p.Pro305Thr)
17	g.35575950G>A	CA8504821	PEX12	c.912C>T (p.Cys304=)	ClinVar dbSNP ExAC gnomAD v4
17	g.35575950G>C	CA399137112	PEX12	c.912C>G (p.Cys304Trp)
17	g.35575950G=	CA2257586471	PEX12	c.912C= (p.Cys304=)
17	g.35575950G>T	CA399137113	PEX12	c.912C>A (p.Cys304Ter)
17	g.35575950_35575952delinsGCA	CA2257586473	PEX12	c.910_912delinsTGC (p.Cys304=)
17	g.35575951C>A	CA399137114	PEX12	c.911G>T (p.Cys304Phe)
17	g.35575951C>G	CA399137115	PEX12	c.911G>C (p.Cys304Ser)
17	g.35575951C>T	CA399137116	PEX12	c.911G>A (p.Cys304Tyr)
17	g.35575955_35575956del	CA290068182	PEX12	c.910_911del (p.Cys304ProfsTer5)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35575952A>C	CA399137117	PEX12	c.910T>G (p.Cys304Gly)
17	g.35575952A>G	CA399137118	PEX12	c.910T>C (p.Cys304Arg)
17	g.35575952A>T	CA399137119	PEX12	c.910T>A (p.Cys304Ser)
17	g.35575953C>A	CA499903522	PEX12	c.909G>T (p.Val303=)

Number of alleles fetched