Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35575908G>A	CA499903441	PEX12	c.954C>T (p.Ala318=)
17	g.35575908G>C	CA499903443	PEX12	c.954C>G (p.Ala318=)
17	g.35575908G>T	CA499903445	PEX12	c.954C>A (p.Ala318=)
17	g.35575909G>A	CA8504813	PEX12	c.953C>T (p.Ala318Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35575909G>C	CA399137030	PEX12	c.953C>G (p.Ala318Gly)
17	g.35575909G=	CA2257586407	PEX12	c.953C= (p.Ala318=)
17	g.35575909G>T	CA399137031	PEX12	c.953C>A (p.Ala318Asp)
17	g.35575910C>A	CA399137032	PEX12	c.952G>T (p.Ala318Ser)
17	g.35575910C=	CA2257586411	PEX12	c.952G= (p.Ala318=)
17	g.35575910C>G	CA399137033	PEX12	c.952G>C (p.Ala318Pro)	dbSNP
17	g.35575910C>T	CA399137034	PEX12	c.952G>A (p.Ala318Thr)
17	g.35575911A>C	CA499903448	PEX12	c.951T>G (p.Leu317=)
17	g.35575911A>G	CA499903449	PEX12	c.951T>C (p.Leu317=)
17	g.35575911A>T	CA499903451	PEX12	c.951T>A (p.Leu317=)
17	g.35575912A>C	CA399137037	PEX12	c.950T>G (p.Leu317Arg)
17	g.35575912A>G	CA399137035	PEX12	c.950T>C (p.Leu317Pro)
17	g.35575912A>T	CA399137036	PEX12	c.950T>A (p.Leu317His)
17	g.35575913G>A	CA119070	PEX12	c.949C>T (p.Leu317Phe)	ClinVar dbSNP
17	g.35575913G>C	CA399137039	PEX12	c.949C>G (p.Leu317Val)	gnomAD v4
17	g.35575913G=	CA2257586415	PEX12	c.949C= (p.Leu317=)
17	g.35575913G>T	CA399137038	PEX12	c.949C>A (p.Leu317Ile)
17	g.35575914A>C	CA499903456	PEX12	c.948T>G (p.Val316=)
17	g.35575914A>G	CA499903452	PEX12	c.948T>C (p.Val316=)
17	g.35575914A>T	CA499903454	PEX12	c.948T>A (p.Val316=)
17	g.35575915A=	CA2257586420	PEX12	c.947T= (p.Val316=)
17	g.35575915A>C	CA399137040	PEX12	c.947T>G (p.Val316Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35575915A>G	CA399137041	PEX12	c.947T>C (p.Val316Ala)
17	g.35575915A>T	CA399137042	PEX12	c.947T>A (p.Val316Asp)
17	g.35575916C>A	CA399137043	PEX12	c.946G>T (p.Val316Phe)
17	g.35575916C=	CA2257586422	PEX12	c.946G= (p.Val316=)
17	g.35575916C>G	CA8504814	PEX12	c.946G>C (p.Val316Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35575916C>T	CA399137044	PEX12	c.946G>A (p.Val316Ile)
17	g.35575917A>C	CA499903459	PEX12	c.945T>G (p.Thr315=)
17	g.35575917A>G	CA499903461	PEX12	c.945T>C (p.Thr315=)	gnomAD v4
17	g.35575917A>T	CA499903462	PEX12	c.945T>A (p.Thr315=)	ClinVar
17	g.35575918G>A	CA399137045	PEX12	c.944C>T (p.Thr315Ile)
17	g.35575918G>C	CA399137046	PEX12	c.944C>G (p.Thr315Ser)
17	g.35575918G>T	CA399137047	PEX12	c.944C>A (p.Thr315Asn)	ClinVar dbSNP
17	g.35575918_35575920delinsGTA	CA2257586426	PEX12	c.942_944delinsTAC (p.Asp314=)
17	g.35575919T>A	CA399137048	PEX12	c.943A>T (p.Thr315Ser)
17	g.35575919T>C	CA399137049	PEX12	c.943A>G (p.Thr315Ala)
17	g.35575919T>G	CA399137050	PEX12	c.943A>C (p.Thr315Pro)
17	g.35575920_35575921del	CA625783433	PEX12	c.942_943del (p.Thr315CysfsTer?)	dbSNP gnomAD v2 gnomAD v4
17	g.35575920A=	CA2257586430	PEX12	c.942T= (p.Asp314=)
17	g.35575920A>C	CA399137051	PEX12	c.942T>G (p.Asp314Glu)
17	g.35575920A>G	CA499903466	PEX12	c.942T>C (p.Asp314=)	dbSNP gnomAD v2
17	g.35575920A>T	CA399137052	PEX12	c.942T>A (p.Asp314Glu)
17	g.35575921T>A	CA399137053	PEX12	c.941A>T (p.Asp314Val)
17	g.35575921T>C	CA399137054	PEX12	c.941A>G (p.Asp314Gly)
17	g.35575921T>G	CA399137055	PEX12	c.941A>C (p.Asp314Ala)

Number of alleles fetched