Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35577384G>A	CA235963	PEX12	c.334C>T (p.Gln112Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577384G>C	CA399138354	PEX12	c.334C>G (p.Gln112Glu)
17	g.35577384G=	CA2257588033	PEX12	c.334C= (p.Gln112=)
17	g.35577384G>T	CA399138355	PEX12	c.334C>A (p.Gln112Lys)
17	g.35577385C>A	CA399138356	PEX12	c.333G>T (p.Gln111His)
17	g.35577385C>G	CA399138357	PEX12	c.333G>C (p.Gln111His)
17	g.35577385C>T	CA499903501	PEX12	c.333G>A (p.Gln111=)
17	g.35577386T>A	CA399138358	PEX12	c.332A>T (p.Gln111Leu)
17	g.35577386T>C	CA399138359	PEX12	c.332A>G (p.Gln111Arg)
17	g.35577386T>G	CA399138360	PEX12	c.332A>C (p.Gln111Pro)
17	g.35577387G>A	CA290069578	PEX12	c.331C>T (p.Gln111Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577387G>C	CA399138362	PEX12	c.331C>G (p.Gln111Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.35577387G=	CA2257588035	PEX12	c.331C= (p.Gln111=)
17	g.35577387G>T	CA399138361	PEX12	c.331C>A (p.Gln111Lys)
17	g.35577388C>A	CA399138364	PEX12	c.330G>T (p.Lys110Asn)
17	g.35577388C>G	CA399138363	PEX12	c.330G>C (p.Lys110Asn)
17	g.35577388C>T	CA499903502	PEX12	c.330G>A (p.Lys110=)
17	g.35577389T>A	CA399138365	PEX12	c.329A>T (p.Lys110Met)
17	g.35577389T>C	CA399138366	PEX12	c.329A>G (p.Lys110Arg)
17	g.35577389T>G	CA399138367	PEX12	c.329A>C (p.Lys110Thr)
17	g.35577391dup	CA2695201324	PEX12	c.329dup (p.Gln111AlafsTer26)	ClinVar
17	g.35577390T>A	CA399138368	PEX12	c.328A>T (p.Lys110Ter)
17	g.35577390T>C	CA399138369	PEX12	c.328A>G (p.Lys110Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.35577390T>G	CA399138370	PEX12	c.328A>C (p.Lys110Gln)
17	g.35577390T=	CA2257588039	PEX12	c.328A= (p.Lys110=)
17	g.35577391T>A	CA499903506	PEX12	c.327A>T (p.Pro109=)
17	g.35577391T>C	CA499903507	PEX12	c.327A>G (p.Pro109=)
17	g.35577391T>G	CA499903508	PEX12	c.327A>C (p.Pro109=)
17	g.35577391_35577392delinsTG	CA2257588040	PEX12	c.326_327delinsCA (p.Pro109=)
17	g.35577392G>A	CA399138371	PEX12	c.326C>T (p.Pro109Leu)
17	g.35577392G>C	CA399138372	PEX12	c.326C>G (p.Pro109Arg)
17	g.35577392G>T	CA399138373	PEX12	c.326C>A (p.Pro109Gln)
17	g.35577394del	CA2257588042	PEX12	c.326del (p.Pro109GlnfsTer18)	dbSNP gnomAD v3 gnomAD v4
17	g.35577393G>A	CA399138374	PEX12	c.325C>T (p.Pro109Ser)
17	g.35577393G>C	CA399138375	PEX12	c.325C>G (p.Pro109Ala)	dbSNP
17	g.35577393G=	CA2257588044	PEX12	c.325C= (p.Pro109=)
17	g.35577393G>T	CA399138376	PEX12	c.325C>A (p.Pro109Thr)
17	g.35577394G>A	CA499903511	PEX12	c.324C>T (p.Leu108=)	ClinVar
17	g.35577394G>C	CA499903513	PEX12	c.324C>G (p.Leu108=)
17	g.35577394G>T	CA499903514	PEX12	c.324C>A (p.Leu108=)
17	g.35577395A>C	CA399138379	PEX12	c.323T>G (p.Leu108Arg)
17	g.35577395A>G	CA399138377	PEX12	c.323T>C (p.Leu108Pro)
17	g.35577395A>T	CA399138378	PEX12	c.323T>A (p.Leu108His)
17	g.35577396G>A	CA399138380	PEX12	c.322C>T (p.Leu108Phe)	ClinVar dbSNP
17	g.35577396G>C	CA399138381	PEX12	c.322C>G (p.Leu108Val)
17	g.35577396G=	CA2257588047	PEX12	c.322C= (p.Leu108=)
17	g.35577396G>T	CA399138382	PEX12	c.322C>A (p.Leu108Ile)
17	g.35577397A=	CA2257588050	PEX12	c.321T= (p.Gly107=)
17	g.35577397A>C	CA499903517	PEX12	c.321T>G (p.Gly107=)	dbSNP
17	g.35577397A>G	CA499903515	PEX12	c.321T>C (p.Gly107=)	ClinVar
17	g.35577397A>T	CA499903516	PEX12	c.321T>A (p.Gly107=)
17	g.35577398C>A	CA399138383	PEX12	c.320G>T (p.Gly107Val)
17	g.35577398C>G	CA399138384	PEX12	c.320G>C (p.Gly107Ala)
17	g.35577398C>T	CA399138385	PEX12	c.320G>A (p.Gly107Asp)
17	g.35577399C>A	CA399138386	PEX12	c.319G>T (p.Gly107Cys)
17	g.35577399C=	CA2257588051	PEX12	c.319G= (p.Gly107=)
17	g.35577399C>G	CA8504923	PEX12	c.319G>C (p.Gly107Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577399C>T	CA399138387	PEX12	c.319G>A (p.Gly107Ser)
17	g.35577400A=	CA2257588053	PEX12	c.318T= (p.Ala106=)
17	g.35577400A>C	CA499903520	PEX12	c.318T>G (p.Ala106=)
17	g.35577400A>G	CA499903519	PEX12	c.318T>C (p.Ala106=)	dbSNP gnomAD v2 gnomAD v4
17	g.35577400A>T	CA499903518	PEX12	c.318T>A (p.Ala106=)
17	g.35577401G>A	CA399138388	PEX12	c.317C>T (p.Ala106Val)
17	g.35577401G>C	CA290069593	PEX12	c.317C>G (p.Ala106Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577401G=	CA2257588054	PEX12	c.317C= (p.Ala106=)
17	g.35577401G>T	CA399138389	PEX12	c.317C>A (p.Ala106Asp)
17	g.35577402C>A	CA399138392	PEX12	c.316G>T (p.Ala106Ser)
17	g.35577402C=	CA2257588056	PEX12	c.316G= (p.Ala106=)
17	g.35577402C>G	CA399138391	PEX12	c.316G>C (p.Ala106Pro)	gnomAD v4
17	g.35577402C>T	CA399138390	PEX12	c.316G>A (p.Ala106Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.35577403A=	CA2257588058	PEX12	c.315T= (p.Ser105=)
17	g.35577403A>C	CA399138393	PEX12	c.315T>G (p.Ser105Arg)
17	g.35577403A>G	CA499903521	PEX12	c.315T>C (p.Ser105=)	ClinVar dbSNP
17	g.35577403A>T	CA399138394	PEX12	c.315T>A (p.Ser105Arg)	dbSNP
17	g.35577404C>A	CA399138395	PEX12	c.314G>T (p.Ser105Ile)
17	g.35577404C=	CA2257588059	PEX12	c.314G= (p.Ser105=)
17	g.35577404C>G	CA399138396	PEX12	c.314G>C (p.Ser105Thr)	gnomAD v4
17	g.35577404C>T	CA399138397	PEX12	c.314G>A (p.Ser105Asn)	dbSNP gnomAD v2
17	g.35577405T>A	CA399138398	PEX12	c.313A>T (p.Ser105Cys)
17	g.35577405T>C	CA399138399	PEX12	c.313A>G (p.Ser105Gly)
17	g.35577405T>G	CA399138400	PEX12	c.313A>C (p.Ser105Arg)	gnomAD v4
17	g.35577406A>C	CA499903525	PEX12	c.312T>G (p.Ala104=)
17	g.35577406A>G	CA499903526	PEX12	c.312T>C (p.Ala104=)
17	g.35577406A>T	CA499903527	PEX12	c.312T>A (p.Ala104=)
17	g.35577407G>A	CA399138401	PEX12	c.311C>T (p.Ala104Val)
17	g.35577407G>C	CA399138402	PEX12	c.311C>G (p.Ala104Gly)	COSMIC
17	g.35577407G>T	CA399138403	PEX12	c.311C>A (p.Ala104Asp)
17	g.35577408C>A	CA399138404	PEX12	c.310G>T (p.Ala104Ser)
17	g.35577408C>G	CA399138405	PEX12	c.310G>C (p.Ala104Pro)
17	g.35577408C>T	CA399138406	PEX12	c.310G>A (p.Ala104Thr)
17	g.35577411_35577437dup	CA983271485	PEX12	c.284_310dup (p.Leu103_Ala104insGlyAspThrHisLysSerGlnArgLeu)	gnomAD v3 gnomAD v4
17	g.35577409C>A	CA399138408	PEX12	c.309G>T (p.Leu103Phe)
17	g.35577409C=	CA2257588061	PEX12	c.309G= (p.Leu103=)
17	g.35577409C>G	CA399138407	PEX12	c.309G>C (p.Leu103Phe)
17	g.35577409C>T	CA499903530	PEX12	c.309G>A (p.Leu103=)
17	g.35577410A=	CA2257588063	PEX12	c.308T= (p.Leu103=)
17	g.35577410A>C	CA399138409	PEX12	c.308T>G (p.Leu103Trp)	dbSNP gnomAD v4
17	g.35577410A>G	CA399138410	PEX12	c.308T>C (p.Leu103Ser)
17	g.35577410A>T	CA399138411	PEX12	c.308T>A (p.Leu103Ter)
17	g.35577411dup	CA290069598	PEX12	c.308dup (p.Leu103PhefsTer3)	ClinVar dbSNP
17	g.35577411A=	CA2257588067	PEX12	c.307T= (p.Leu103=)
17	g.35577411A>C	CA399138412	PEX12	c.307T>G (p.Leu103Val)
17	g.35577411A>G	CA8504924	PEX12	c.307T>C (p.Leu103=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577411A>T	CA399138413	PEX12	c.307T>A (p.Leu103Met)
17	g.35577412T>A	CA8504925	PEX12	c.306A>T (p.Arg102Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577412T>C	CA499903532	PEX12	c.306A>G (p.Arg102=)
17	g.35577412T>G	CA399138414	PEX12	c.306A>C (p.Arg102Ser)	gnomAD v4
17	g.35577412T=	CA2257588070	PEX12	c.306A= (p.Arg102=)
17	g.35577415_35577416del	CA2580613432	PEX12	c.305_306del (p.Arg102IlefsTer3)	ClinVar dbSNP
17	g.35577413C>A	CA399138415	PEX12	c.305G>T (p.Arg102Ile)	COSMIC
17	g.35577413C=	CA2257588072	PEX12	c.305G= (p.Arg102=)
17	g.35577413C>G	CA399138416	PEX12	c.305G>C (p.Arg102Thr)	ClinVar dbSNP
17	g.35577413C>T	CA399138417	PEX12	c.305G>A (p.Arg102Lys)
17	g.35577414T>A	CA399138418	PEX12	c.304A>T (p.Arg102Ter)
17	g.35577414T>C	CA399138419	PEX12	c.304A>G (p.Arg102Gly)
17	g.35577414T>G	CA499903533	PEX12	c.304A>C (p.Arg102=)
17	g.35577415C>A	CA399138420	PEX12	c.303G>T (p.Gln101His)
17	g.35577415C=	CA2257588074	PEX12	c.303G= (p.Gln101=)
17	g.35577415C>G	CA399138421	PEX12	c.303G>C (p.Gln101His)
17	g.35577415C>T	CA8504926	PEX12	c.303G>A (p.Gln101=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577415_35577417delinsCTG	CA2257588075	PEX12	c.301_303delinsCAG (p.Gln101=)
17	g.35577416T>A	CA399138422	PEX12	c.302A>T (p.Gln101Leu)
17	g.35577416T>C	CA399138424	PEX12	c.302A>G (p.Gln101Arg)	ClinVar dbSNP
17	g.35577416T>G	CA399138423	PEX12	c.302A>C (p.Gln101Pro)
17	g.35577416T=	CA2257588077	PEX12	c.302A= (p.Gln101=)
17	g.35577416_35577417del	CA626205334	PEX12	c.301_302del (p.Gln101GlufsTer4)	dbSNP gnomAD v2 gnomAD v4
17	g.35577417G>A	CA399138425	PEX12	c.301C>T (p.Gln101Ter)
17	g.35577417G>C	CA399138427	PEX12	c.301C>G (p.Gln101Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577417G=	CA2257588079	PEX12	c.301C= (p.Gln101=)
17	g.35577417G>T	CA399138426	PEX12	c.301C>A (p.Gln101Lys)
17	g.35577418A>C	CA499903534	PEX12	c.300T>G (p.Ser100=)
17	g.35577418A>G	CA499903535	PEX12	c.300T>C (p.Ser100=)
17	g.35577418A>T	CA499903536	PEX12	c.300T>A (p.Ser100=)
17	g.35577419G>A	CA399138428	PEX12	c.299C>T (p.Ser100Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.35577419G>C	CA399138430	PEX12	c.299C>G (p.Ser100Cys)
17	g.35577419G=	CA2257588081	PEX12	c.299C= (p.Ser100=)
17	g.35577419G>T	CA399138429	PEX12	c.299C>A (p.Ser100Tyr)	gnomAD v4
17	g.35577420A>C	CA399138431	PEX12	c.298T>G (p.Ser100Ala)	gnomAD v4
17	g.35577420A>G	CA399138432	PEX12	c.298T>C (p.Ser100Pro)
17	g.35577420A>T	CA399138433	PEX12	c.298T>A (p.Ser100Thr)
17	g.35577421C>A	CA399138434	PEX12	c.297G>T (p.Lys99Asn)
17	g.35577421C>G	CA399138435	PEX12	c.297G>C (p.Lys99Asn)
17	g.35577421C>T	CA499903537	PEX12	c.297G>A (p.Lys99=)
17	g.35577422T>A	CA399138436	PEX12	c.296A>T (p.Lys99Met)
17	g.35577422T>C	CA399138437	PEX12	c.296A>G (p.Lys99Arg)
17	g.35577422T>G	CA399138438	PEX12	c.296A>C (p.Lys99Thr)
17	g.35577423T>A	CA399138439	PEX12	c.295A>T (p.Lys99Ter)
17	g.35577423T>C	CA290069615	PEX12	c.295A>G (p.Lys99Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577423T>G	CA399138440	PEX12	c.295A>C (p.Lys99Gln)
17	g.35577423T=	CA2257588083	PEX12	c.295A= (p.Lys99=)
17	g.35577424G>A	CA499903539	PEX12	c.294C>T (p.His98=)	gnomAD v4
17	g.35577424G>C	CA399138441	PEX12	c.294C>G (p.His98Gln)
17	g.35577424G=	CA2257561969	PEX12	c.294C= (p.His98=)
17	g.35577424G>T	CA8504927	PEX12	c.294C>A (p.His98Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577425T>A	CA399138442	PEX12	c.293A>T (p.His98Leu)
17	g.35577425T>C	CA399138444	PEX12	c.293A>G (p.His98Arg)	dbSNP
17	g.35577425T>G	CA399138443	PEX12	c.293A>C (p.His98Pro)
17	g.35577425T=	CA2257561970	PEX12	c.293A= (p.His98=)
17	g.35577426G>A	CA8504928	PEX12	c.292C>T (p.His98Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577426G>C	CA399138445	PEX12	c.292C>G (p.His98Asp)
17	g.35577426G=	CA2257561971	PEX12	c.292C= (p.His98=)
17	g.35577426G>T	CA399138446	PEX12	c.292C>A (p.His98Asn)
17	g.35577427A=	CA2257561972	PEX12	c.291T= (p.Thr97=)
17	g.35577427A>C	CA499903543	PEX12	c.291T>G (p.Thr97=)	ClinVar gnomAD v4
17	g.35577427A>G	CA8504929	PEX12	c.291T>C (p.Thr97=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577427A>T	CA499903544	PEX12	c.291T>A (p.Thr97=)
17	g.35577428G>A	CA399138447	PEX12	c.290C>T (p.Thr97Ile)
17	g.35577428G>C	CA8504930	PEX12	c.290C>G (p.Thr97Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577428G=	CA2257561973	PEX12	c.290C= (p.Thr97=)
17	g.35577428G>T	CA399138448	PEX12	c.290C>A (p.Thr97Asn)
17	g.35577429T>A	CA399138449	PEX12	c.289A>T (p.Thr97Ser)	dbSNP
17	g.35577429T>C	CA399138450	PEX12	c.289A>G (p.Thr97Ala)
17	g.35577429T>G	CA399138451	PEX12	c.289A>C (p.Thr97Pro)
17	g.35577429T=	CA2257561974	PEX12	c.289A= (p.Thr97=)
17	g.35577430G>A	CA499903545	PEX12	c.288C>T (p.Asp96=)	ClinVar dbSNP
17	g.35577430G>C	CA399138452	PEX12	c.288C>G (p.Asp96Glu)
17	g.35577430G=	CA2257561975	PEX12	c.288C= (p.Asp96=)
17	g.35577430G>T	CA399138453	PEX12	c.288C>A (p.Asp96Glu)
17	g.35577431T>A	CA399138454	PEX12	c.287A>T (p.Asp96Val)
17	g.35577431T>C	CA399138455	PEX12	c.287A>G (p.Asp96Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.35577431T>G	CA399138456	PEX12	c.287A>C (p.Asp96Ala)
17	g.35577432C>A	CA399138457	PEX12	c.286G>T (p.Asp96Tyr)	dbSNP gnomAD v4
17	g.35577432C=	CA2257561976	PEX12	c.286G= (p.Asp96=)
17	g.35577432C>G	CA399138458	PEX12	c.286G>C (p.Asp96His)
17	g.35577432C>T	CA399138459	PEX12	c.286G>A (p.Asp96Asn)	gnomAD v4
17	g.35577436del	CA2580093612	PEX12	c.286del (p.Asp96ThrfsTer?)	ClinVar
17	g.35577433C>A	CA499903547	PEX12	c.285G>T (p.Gly95=)
17	g.35577433C=	CA2257561977	PEX12	c.285G= (p.Gly95=)
17	g.35577433C>G	CA499903548	PEX12	c.285G>C (p.Gly95=)
17	g.35577433C>T	CA499903549	PEX12	c.285G>A (p.Gly95=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577434C>A	CA399138460	PEX12	c.284G>T (p.Gly95Val)
17	g.35577434C>G	CA399138461	PEX12	c.284G>C (p.Gly95Ala)
17	g.35577434C>T	CA399138462	PEX12	c.284G>A (p.Gly95Glu)
17	g.35577435C>A	CA399138463	PEX12	c.283G>T (p.Gly95Trp)
17	g.35577435C>G	CA399138464	PEX12	c.283G>C (p.Gly95Arg)
17	g.35577435C>T	CA399138465	PEX12	c.283G>A (p.Gly95Arg)
17	g.35577436C>A	CA399138467	PEX12	c.282G>T (p.Met94Ile)
17	g.35577436C=	CA2257561978	PEX12	c.282G= (p.Met94=)
17	g.35577436C>G	CA399138466	PEX12	c.282G>C (p.Met94Ile)
17	g.35577436C>T	CA8504931	PEX12	c.282G>A (p.Met94Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577437A>C	CA399138468	PEX12	c.281T>G (p.Met94Arg)
17	g.35577437A>G	CA399138469	PEX12	c.281T>C (p.Met94Thr)
17	g.35577437A>T	CA399138470	PEX12	c.281T>A (p.Met94Lys)
17	g.35577438T>A	CA399138471	PEX12	c.280A>T (p.Met94Leu)	gnomAD v4
17	g.35577438T>C	CA399138472	PEX12	c.280A>G (p.Met94Val)	dbSNP gnomAD v2 gnomAD v4
17	g.35577438T>G	CA399138473	PEX12	c.280A>C (p.Met94Leu)
17	g.35577438T=	CA2257561979	PEX12	c.280A= (p.Met94=)
17	g.35577439T>A	CA499903568	PEX12	c.279A>T (p.Val93=)
17	g.35577439T>C	CA499903567	PEX12	c.279A>G (p.Val93=)
17	g.35577439T>G	CA499903566	PEX12	c.279A>C (p.Val93=)	gnomAD v4
17	g.35577440A=	CA2257561980	PEX12	c.278T= (p.Val93=)
17	g.35577440A>C	CA8504932	PEX12	c.278T>G (p.Val93Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577440A>G	CA399138474	PEX12	c.278T>C (p.Val93Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.35577440A>T	CA399138475	PEX12	c.278T>A (p.Val93Glu)
17	g.35577441C>A	CA399138476	PEX12	c.277G>T (p.Val93Leu)	gnomAD v4
17	g.35577441C=	CA2257561981	PEX12	c.277G= (p.Val93=)
17	g.35577441C>G	CA399138477	PEX12	c.277G>C (p.Val93Leu)
17	g.35577441C>T	CA399138478	PEX12	c.277G>A (p.Val93Ile)	dbSNP
17	g.35577442A=	CA2257561982	PEX12	c.276T= (p.Ile92=)
17	g.35577442A>C	CA399138479	PEX12	c.276T>G (p.Ile92Met)
17	g.35577442A>G	CA499903569	PEX12	c.276T>C (p.Ile92=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577442A>T	CA499903571	PEX12	c.276T>A (p.Ile92=)
17	g.35577443A>C	CA399138481	PEX12	c.275T>G (p.Ile92Ser)
17	g.35577443A>G	CA399138480	PEX12	c.275T>C (p.Ile92Thr)	gnomAD v4
17	g.35577443A>T	CA399138482	PEX12	c.275T>A (p.Ile92Asn)
17	g.35577444T>A	CA399138483	PEX12	c.274A>T (p.Ile92Phe)
17	g.35577444T>C	CA399138484	PEX12	c.274A>G (p.Ile92Val)	gnomAD v4
17	g.35577444T>G	CA399138485	PEX12	c.274A>C (p.Ile92Leu)
17	g.35577445T>A	CA119068	PEX12	c.273A>T (p.Arg91Ser)	ClinVar dbSNP
17	g.35577445T>C	CA499903576	PEX12	c.273A>G (p.Arg91=)	ClinVar
17	g.35577445T>G	CA399138486	PEX12	c.273A>C (p.Arg91Ser)
17	g.35577445T=	CA2257561983	PEX12	c.273A= (p.Arg91=)
17	g.35577446C>A	CA399138487	PEX12	c.272G>T (p.Arg91Ile)	gnomAD v4
17	g.35577446C>G	CA399138488	PEX12	c.272G>C (p.Arg91Thr)	ClinVar dbSNP
17	g.35577446C>T	CA399138489	PEX12	c.272G>A (p.Arg91Lys)	gnomAD v4
17	g.35577446_35577450delinsCTCTT	CA2257561984	PEX12	c.268_272delinsAAGAG (p.Lys90=)
17	g.35577447T>A	CA399138490	PEX12	c.271A>T (p.Arg91Ter)
17	g.35577447T>C	CA399138491	PEX12	c.271A>G (p.Arg91Gly)
17	g.35577447T>G	CA499903580	PEX12	c.271A>C (p.Arg91=)	ClinVar dbSNP
17	g.35577447T=	CA2257561985	PEX12	c.271A= (p.Arg91=)
17	g.35577448_35577451del	CA8504933	PEX12	c.268_271del (p.Lys90GlufsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577448C>A	CA399138492	PEX12	c.270G>T (p.Lys90Asn)
17	g.35577448C>G	CA399138493	PEX12	c.270G>C (p.Lys90Asn)
17	g.35577448C>T	CA499903584	PEX12	c.270G>A (p.Lys90=)
17	g.35577449T>A	CA399138494	PEX12	c.269A>T (p.Lys90Met)
17	g.35577449T>C	CA399138496	PEX12	c.269A>G (p.Lys90Arg)
17	g.35577449T>G	CA399138495	PEX12	c.269A>C (p.Lys90Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.35577449T=	CA2257561986	PEX12	c.269A= (p.Lys90=)
17	g.35577450_35577451del	CA2576233679	PEX12	c.268_269del (p.Lys90GlufsTer15)	ClinVar gnomAD v4
17	g.35577450T>A	CA399138497	PEX12	c.268A>T (p.Lys90Ter)
17	g.35577450T>C	CA399138498	PEX12	c.268A>G (p.Lys90Glu)
17	g.35577450T>G	CA399138499	PEX12	c.268A>C (p.Lys90Gln)
17	g.35577451T>A	CA399138500	PEX12	c.267A>T (p.Leu89Phe)
17	g.35577451T>C	CA499903588	PEX12	c.267A>G (p.Leu89=)
17	g.35577451T>G	CA399138501	PEX12	c.267A>C (p.Leu89Phe)
17	g.35577452A>C	CA399138502	PEX12	c.266T>G (p.Leu89Ter)
17	g.35577452A>G	CA399138503	PEX12	c.266T>C (p.Leu89Ser)
17	g.35577452A>T	CA399138504	PEX12	c.266T>A (p.Leu89Ter)
17	g.35577453A>C	CA399138505	PEX12	c.265T>G (p.Leu89Val)	gnomAD v4
17	g.35577453A>G	CA499903592	PEX12	c.265T>C (p.Leu89=)
17	g.35577453A>T	CA399138506	PEX12	c.265T>A (p.Leu89Ile)
17	g.35577454G>A	CA499903593	PEX12	c.264C>T (p.Gly88=)
17	g.35577454G>C	CA499903595	PEX12	c.264C>G (p.Gly88=)
17	g.35577454G>T	CA499903597	PEX12	c.264C>A (p.Gly88=)
17	g.35577455C>A	CA399138508	PEX12	c.263G>T (p.Gly88Val)
17	g.35577455C=	CA2257561987	PEX12	c.263G= (p.Gly88=)
17	g.35577455C>G	CA399138509	PEX12	c.263G>C (p.Gly88Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577455C>T	CA399138507	PEX12	c.263G>A (p.Gly88Asp)
17	g.35577456C>A	CA399138510	PEX12	c.262G>T (p.Gly88Cys)
17	g.35577456C=	CA2257561988	PEX12	c.262G= (p.Gly88=)
17	g.35577456C>G	CA399138511	PEX12	c.262G>C (p.Gly88Arg)
17	g.35577456C>T	CA399138512	PEX12	c.262G>A (p.Gly88Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577457G>A	CA8504934	PEX12	c.261C>T (p.Tyr87=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577457G>C	CA8504935	PEX12	c.261C>G (p.Tyr87Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577457G=	CA2257561989	PEX12	c.261C= (p.Tyr87=)
17	g.35577457G>T	CA399138513	PEX12	c.261C>A (p.Tyr87Ter)
17	g.35577458T>A	CA399138514	PEX12	c.260A>T (p.Tyr87Phe)
17	g.35577458T>C	CA399138516	PEX12	c.260A>G (p.Tyr87Cys)
17	g.35577458T>G	CA399138515	PEX12	c.260A>C (p.Tyr87Ser)
17	g.35577458_35577459insTT	CA290069664	PEX12	c.260_261insAA (p.Tyr87Ter)	ClinVar dbSNP
17	g.35577458_35577460delinsTAA	CA2257561990	PEX12	c.258_260delinsTTA (p.Phe86=)
17	g.35577459A>C	CA399138517	PEX12	c.259T>G (p.Tyr87Asp)
17	g.35577459A>G	CA399138518	PEX12	c.259T>C (p.Tyr87His)	COSMIC
17	g.35577459A>T	CA399138519	PEX12	c.259T>A (p.Tyr87Asn)
17	g.35577461_35577462del	CA8504936	PEX12	c.258_259del (p.Phe86LeufsTer19)	dbSNP ExAC gnomAD v2
17	g.35577460A=	CA2257561991	PEX12	c.258T= (p.Phe86=)
17	g.35577460A>C	CA399138520	PEX12	c.258T>G (p.Phe86Leu)
17	g.35577460A>G	CA290069670	PEX12	c.258T>C (p.Phe86=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577460A>T	CA399138521	PEX12	c.258T>A (p.Phe86Leu)
17	g.35577461A>C	CA399138522	PEX12	c.257T>G (p.Phe86Cys)
17	g.35577461A>G	CA399138523	PEX12	c.257T>C (p.Phe86Ser)
17	g.35577461A>T	CA399138524	PEX12	c.257T>A (p.Phe86Tyr)
17	g.35577462A>C	CA399138525	PEX12	c.256T>G (p.Phe86Val)	COSMIC
17	g.35577462A>G	CA399138526	PEX12	c.256T>C (p.Phe86Leu)
17	g.35577462A>T	CA399138527	PEX12	c.256T>A (p.Phe86Ile)
17	g.35577463G>A	CA499903612	PEX12	c.255C>T (p.Asn85=)	ClinVar
17	g.35577463G>C	CA399138528	PEX12	c.255C>G (p.Asn85Lys)
17	g.35577463G>T	CA399138529	PEX12	c.255C>A (p.Asn85Lys)
17	g.35577464T>A	CA399138530	PEX12	c.254A>T (p.Asn85Ile)
17	g.35577464T>C	CA399138531	PEX12	c.254A>G (p.Asn85Ser)
17	g.35577464T>G	CA399138532	PEX12	c.254A>C (p.Asn85Thr)
17	g.35577465T>A	CA399138535	PEX12	c.253A>T (p.Asn85Tyr)
17	g.35577465T>C	CA399138534	PEX12	c.253A>G (p.Asn85Asp)
17	g.35577465T>G	CA399138533	PEX12	c.253A>C (p.Asn85His)	gnomAD v4
17	g.35577466T>A	CA399138536	PEX12	c.252A>T (p.Glu84Asp)
17	g.35577466T>C	CA499903615	PEX12	c.252A>G (p.Glu84=)
17	g.35577466T>G	CA399138537	PEX12	c.252A>C (p.Glu84Asp)
17	g.35577467T>A	CA399138538	PEX12	c.251A>T (p.Glu84Val)
17	g.35577467T>C	CA399138539	PEX12	c.251A>G (p.Glu84Gly)
17	g.35577467T>G	CA399138540	PEX12	c.251A>C (p.Glu84Ala)
17	g.35577468C>A	CA399138541	PEX12	c.250G>T (p.Glu84Ter)
17	g.35577468C>G	CA399138542	PEX12	c.250G>C (p.Glu84Gln)
17	g.35577468C>T	CA399138543	PEX12	c.250G>A (p.Glu84Lys)
17	g.35577469A>C	CA499903618	PEX12	c.249T>G (p.Ser83=)
17	g.35577469A>G	CA499903619	PEX12	c.249T>C (p.Ser83=)	gnomAD v4
17	g.35577469A>T	CA499903621	PEX12	c.249T>A (p.Ser83=)
17	g.35577470G>A	CA399138544	PEX12	c.248C>T (p.Ser83Phe)
17	g.35577470G>C	CA399138546	PEX12	c.248C>G (p.Ser83Cys)
17	g.35577470G>T	CA399138545	PEX12	c.248C>A (p.Ser83Tyr)
17	g.35577471A>C	CA399138547	PEX12	c.247T>G (p.Ser83Ala)
17	g.35577471A>G	CA399138548	PEX12	c.247T>C (p.Ser83Pro)
17	g.35577471A>T	CA399138549	PEX12	c.247T>A (p.Ser83Thr)
17	g.35577472A>C	CA399138550	PEX12	c.246T>G (p.Phe82Leu)
17	g.35577472A>G	CA499903624	PEX12	c.246T>C (p.Phe82=)
17	g.35577472A>T	CA399138551	PEX12	c.246T>A (p.Phe82Leu)
17	g.35577473A=	CA2257561992	PEX12	c.245T= (p.Phe82=)
17	g.35577473A>C	CA8504937	PEX12	c.245T>G (p.Phe82Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577473A>G	CA399138553	PEX12	c.245T>C (p.Phe82Ser)	gnomAD v4
17	g.35577473A>T	CA399138552	PEX12	c.245T>A (p.Phe82Tyr)
17	g.35577474A>C	CA399138554	PEX12	c.244T>G (p.Phe82Val)
17	g.35577474A>G	CA399138555	PEX12	c.244T>C (p.Phe82Leu)	ClinVar dbSNP gnomAD v4
17	g.35577474A>T	CA399138556	PEX12	c.244T>A (p.Phe82Ile)
17	g.35577475T>A	CA499903628	PEX12	c.243A>T (p.Ser81=)
17	g.35577475T>C	CA499903627	PEX12	c.243A>G (p.Ser81=)	gnomAD v4
17	g.35577475T>G	CA499903626	PEX12	c.243A>C (p.Ser81=)
17	g.35577476G>A	CA399138557	PEX12	c.242C>T (p.Ser81Leu)	dbSNP gnomAD v4
17	g.35577476G>C	CA399138558	PEX12	c.242C>G (p.Ser81Ter)
17	g.35577476G=	CA2257561993	PEX12	c.242C= (p.Ser81=)
17	g.35577476G>T	CA399138559	PEX12	c.242C>A (p.Ser81Ter)
17	g.35577477A>C	CA399138560	PEX12	c.241T>G (p.Ser81Ala)
17	g.35577477A>G	CA399138561	PEX12	c.241T>C (p.Ser81Pro)
17	g.35577477A>T	CA399138562	PEX12	c.241T>A (p.Ser81Thr)
17	g.35577478G>A	CA499903631	PEX12	c.240C>T (p.Ala80=)
17	g.35577478G>C	CA499903632	PEX12	c.240C>G (p.Ala80=)
17	g.35577478G>T	CA499903633	PEX12	c.240C>A (p.Ala80=)
17	g.35577479G>A	CA399138563	PEX12	c.239C>T (p.Ala80Val)	ClinVar dbSNP
17	g.35577479G>C	CA399138564	PEX12	c.239C>G (p.Ala80Gly)
17	g.35577479G=	CA2257561994	PEX12	c.239C= (p.Ala80=)
17	g.35577479G>T	CA399138565	PEX12	c.239C>A (p.Ala80Asp)
17	g.35577480C>A	CA399138566	PEX12	c.238G>T (p.Ala80Ser)
17	g.35577480C>G	CA399138568	PEX12	c.238G>C (p.Ala80Pro)
17	g.35577480C>T	CA399138567	PEX12	c.238G>A (p.Ala80Thr)	ClinVar
17	g.35577481A=	CA2257561995	PEX12	c.237T= (p.Ser79=)
17	g.35577481A>C	CA399138569	PEX12	c.237T>G (p.Ser79Arg)	dbSNP
17	g.35577481A>G	CA8504939	PEX12	c.237T>C (p.Ser79=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577481A>T	CA8504938	PEX12	c.237T>A (p.Ser79Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577482C>A	CA399138570	PEX12	c.236G>T (p.Ser79Ile)
17	g.35577482C=	CA2257561996	PEX12	c.236G= (p.Ser79=)
17	g.35577482C>G	CA8504940	PEX12	c.236G>C (p.Ser79Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577482C>T	CA399138571	PEX12	c.236G>A (p.Ser79Asn)
17	g.35577483T>A	CA399138572	PEX12	c.235A>T (p.Ser79Cys)
17	g.35577483T>C	CA8504941	PEX12	c.235A>G (p.Ser79Gly)	dbSNP ExAC gnomAD v2
17	g.35577483T>G	CA399138573	PEX12	c.235A>C (p.Ser79Arg)
17	g.35577483T=	CA2257561997	PEX12	c.235A= (p.Ser79=)
17	g.35577483_35577484del	CA2637283260	PEX12	c.234_235del (p.Ser79CysfsTer5)	gnomAD v4
17	g.35577484G>A	CA499903637	PEX12	c.234C>T (p.Thr78=)
17	g.35577484G>C	CA499903639	PEX12	c.234C>G (p.Thr78=)
17	g.35577484G>T	CA499903638	PEX12	c.234C>A (p.Thr78=)

Number of alleles fetched