Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35577354_35577356del	CA8504918	PEX12	c.368_370del (p.Leu123del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.35577355A>C	CA499903469	PEX12	c.363T>G (p.Val121=)
17	g.35577355A>G	CA499903468	PEX12	c.363T>C (p.Val121=)
17	g.35577355A>T	CA499903467	PEX12	c.363T>A (p.Val121=)
17	g.35577356del	CA2695201323	PEX12	c.363del (p.Leu122PhefsTer5)	ClinVar
17	g.35577356A>C	CA399138293	PEX12	c.362T>G (p.Val121Gly)
17	g.35577356A>G	CA399138291	PEX12	c.362T>C (p.Val121Ala)
17	g.35577356A>T	CA399138292	PEX12	c.362T>A (p.Val121Asp)
17	g.35577357C>A	CA399138294	PEX12	c.361G>T (p.Val121Phe)	ClinVar
17	g.35577357C=	CA2257588005	PEX12	c.361G= (p.Val121=)
17	g.35577357C>G	CA399138295	PEX12	c.361G>C (p.Val121Leu)	dbSNP gnomAD v2
17	g.35577357C>T	CA399138296	PEX12	c.361G>A (p.Val121Ile)	gnomAD v4
17	g.35577358C>A	CA499903470	PEX12	c.360G>T (p.Leu120=)	dbSNP gnomAD v2 gnomAD v4
17	g.35577358C=	CA2257588007	PEX12	c.360G= (p.Leu120=)
17	g.35577358C>G	CA8504919	PEX12	c.360G>C (p.Leu120=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577358C>T	CA499903472	PEX12	c.360G>A (p.Leu120=)	dbSNP gnomAD v2 gnomAD v4
17	g.35577359A>C	CA399138297	PEX12	c.359T>G (p.Leu120Arg)
17	g.35577359A>G	CA399138298	PEX12	c.359T>C (p.Leu120Pro)
17	g.35577359A>T	CA399138299	PEX12	c.359T>A (p.Leu120Gln)
17	g.35577360G>A	CA290069507	PEX12	c.358C>T (p.Leu120=)	dbSNP
17	g.35577360G>C	CA399138300	PEX12	c.358C>G (p.Leu120Val)
17	g.35577360G=	CA2257588008	PEX12	c.358C= (p.Leu120=)
17	g.35577360G>T	CA399138301	PEX12	c.358C>A (p.Leu120Met)
17	g.35577361G>A	CA499903473	PEX12	c.357C>T (p.Phe119=)	gnomAD v4
17	g.35577361G>C	CA399138302	PEX12	c.357C>G (p.Phe119Leu)
17	g.35577361G>T	CA399138303	PEX12	c.357C>A (p.Phe119Leu)
17	g.35577362A>C	CA399138306	PEX12	c.356T>G (p.Phe119Cys)
17	g.35577362A>G	CA399138305	PEX12	c.356T>C (p.Phe119Ser)
17	g.35577362A>T	CA399138304	PEX12	c.356T>A (p.Phe119Tyr)
17	g.35577363A>C	CA399138308	PEX12	c.355T>G (p.Phe119Val)
17	g.35577363A>G	CA399138307	PEX12	c.355T>C (p.Phe119Leu)
17	g.35577363A>T	CA399138309	PEX12	c.355T>A (p.Phe119Ile)
17	g.35577364C>A	CA399138310	PEX12	c.354G>T (p.Met118Ile)	dbSNP gnomAD v4
17	g.35577364C=	CA2257588010	PEX12	c.354G= (p.Met118=)
17	g.35577364C>G	CA399138311	PEX12	c.354G>C (p.Met118Ile)	gnomAD v4
17	g.35577364C>T	CA290069512	PEX12	c.354G>A (p.Met118Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577365A=	CA2257588012	PEX12	c.353T= (p.Met118=)
17	g.35577365A>C	CA399138312	PEX12	c.353T>G (p.Met118Arg)
17	g.35577365A>G	CA10649923	PEX12	c.353T>C (p.Met118Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577365A>T	CA399138313	PEX12	c.353T>A (p.Met118Lys)
17	g.35577366T>A	CA399138314	PEX12	c.352A>T (p.Met118Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577366T>C	CA8504920	PEX12	c.352A>G (p.Met118Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577366T>G	CA399138315	PEX12	c.352A>C (p.Met118Leu)
17	g.35577366T=	CA2257588015	PEX12	c.352A= (p.Met118=)
17	g.35577367A>C	CA399138316	PEX12	c.351T>G (p.Ile117Met)
17	g.35577367A>G	CA499903478	PEX12	c.351T>C (p.Ile117=)	ClinVar dbSNP
17	g.35577367A>T	CA499903480	PEX12	c.351T>A (p.Ile117=)
17	g.35577368A>C	CA399138317	PEX12	c.350T>G (p.Ile117Ser)	gnomAD v4
17	g.35577368A>G	CA399138318	PEX12	c.350T>C (p.Ile117Thr)
17	g.35577368A>T	CA399138319	PEX12	c.350T>A (p.Ile117Asn)
17	g.35577369T>A	CA399138321	PEX12	c.349A>T (p.Ile117Phe)	COSMIC
17	g.35577369T>C	CA8504921	PEX12	c.349A>G (p.Ile117Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577369T>G	CA399138320	PEX12	c.349A>C (p.Ile117Leu)	ClinVar
17	g.35577369T=	CA2257588017	PEX12	c.349A= (p.Ile117=)
17	g.35577370A>C	CA499903481	PEX12	c.348T>G (p.Ser116=)
17	g.35577370A>G	CA499903482	PEX12	c.348T>C (p.Ser116=)	ClinVar dbSNP
17	g.35577370A>T	CA499903483	PEX12	c.348T>A (p.Ser116=)
17	g.35577370dup	CA983271474	PEX12	c.348dup (p.Ile117TyrfsTer20)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577371G>A	CA399138322	PEX12	c.347C>T (p.Ser116Phe)	gnomAD v4
17	g.35577371G>C	CA399138323	PEX12	c.347C>G (p.Ser116Cys)	gnomAD v4
17	g.35577371G>T	CA399138324	PEX12	c.347C>A (p.Ser116Tyr)
17	g.35577371_35577373delinsGAT	CA2257588019	PEX12	c.345_347delinsATC (p.Lys115=)
17	g.35577372del	CA2637283094	PEX12	c.346del (p.Ser116LeufsTer11)	gnomAD v4
17	g.35577372A=	CA2257588022	PEX12	c.346T= (p.Ser116=)
17	g.35577372A>C	CA399138325	PEX12	c.346T>G (p.Ser116Ala)
17	g.35577372A>G	CA8504922	PEX12	c.346T>C (p.Ser116Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577372A>T	CA399138326	PEX12	c.346T>A (p.Ser116Thr)
17	g.35577372_35577373del	CA2257588021	PEX12	c.345_346del (p.Lys115AsnfsTer21)	dbSNP
17	g.35577373T>A	CA399138327	PEX12	c.345A>T (p.Lys115Asn)
17	g.35577373T>C	CA499903488	PEX12	c.345A>G (p.Lys115=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577373T>G	CA399138328	PEX12	c.345A>C (p.Lys115Asn)
17	g.35577373T=	CA2257588024	PEX12	c.345A= (p.Lys115=)
17	g.35577374T>A	CA399138329	PEX12	c.344A>T (p.Lys115Ile)
17	g.35577374T>C	CA399138330	PEX12	c.344A>G (p.Lys115Arg)
17	g.35577374T>G	CA399138331	PEX12	c.344A>C (p.Lys115Thr)
17	g.35577375T>A	CA399138333	PEX12	c.343A>T (p.Lys115Ter)
17	g.35577375T>C	CA399138334	PEX12	c.343A>G (p.Lys115Glu)	gnomAD v4
17	g.35577375T>G	CA399138332	PEX12	c.343A>C (p.Lys115Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.35577375T=	CA2257588026	PEX12	c.343A= (p.Lys115=)
17	g.35577376C>A	CA399138335	PEX12	c.342G>T (p.Trp114Cys)
17	g.35577376C>G	CA399138336	PEX12	c.342G>C (p.Trp114Cys)
17	g.35577376C>T	CA399138337	PEX12	c.342G>A (p.Trp114Ter)	ClinVar dbSNP
17	g.35577377C>A	CA399138338	PEX12	c.341G>T (p.Trp114Leu)
17	g.35577377C>G	CA399138339	PEX12	c.341G>C (p.Trp114Ser)
17	g.35577377C>T	CA399138340	PEX12	c.341G>A (p.Trp114Ter)
17	g.35577378A>C	CA399138341	PEX12	c.340T>G (p.Trp114Gly)
17	g.35577378A>G	CA399138342	PEX12	c.340T>C (p.Trp114Arg)
17	g.35577378A>T	CA399138343	PEX12	c.340T>A (p.Trp114Arg)
17	g.35577379A>C	CA499903492	PEX12	c.339T>G (p.Leu113=)
17	g.35577379A>G	CA499903493	PEX12	c.339T>C (p.Leu113=)
17	g.35577379A>T	CA499903491	PEX12	c.339T>A (p.Leu113=)
17	g.35577380A>C	CA399138344	PEX12	c.338T>G (p.Leu113Arg)
17	g.35577380A>G	CA399138345	PEX12	c.338T>C (p.Leu113Pro)
17	g.35577380A>T	CA399138346	PEX12	c.338T>A (p.Leu113His)
17	g.35577381G>A	CA399138349	PEX12	c.337C>T (p.Leu113Phe)	gnomAD v4
17	g.35577381G>C	CA399138347	PEX12	c.337C>G (p.Leu113Val)
17	g.35577381G>T	CA399138348	PEX12	c.337C>A (p.Leu113Ile)
17	g.35577382C>A	CA399138350	PEX12	c.336G>T (p.Gln112His)
17	g.35577382C>G	CA399138351	PEX12	c.336G>C (p.Gln112His)
17	g.35577382C>T	CA499903498	PEX12	c.336G>A (p.Gln112=)
17	g.35577383T>A	CA399138352	PEX12	c.335A>T (p.Gln112Leu)	gnomAD v4
17	g.35577383T>C	CA290069570	PEX12	c.335A>G (p.Gln112Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577383T>G	CA399138353	PEX12	c.335A>C (p.Gln112Pro)
17	g.35577383T=	CA2257588028	PEX12	c.335A= (p.Gln112=)
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)

Number of alleles fetched