Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35577448_35577451del	CA8504933	PEX12	c.268_271del (p.Lys90GlufsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577450_35577451del	CA2576233679	PEX12	c.268_269del (p.Lys90GlufsTer15)	ClinVar gnomAD v4
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=)
17	g.35577485G>A	CA8504942	PEX12	c.233C>T (p.Thr78Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577485G>C	CA399138574	PEX12	c.233C>G (p.Thr78Ser)
17	g.35577485G=	CA2257561998	PEX12	c.233C= (p.Thr78=)
17	g.35577485G>T	CA399138575	PEX12	c.233C>A (p.Thr78Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.35577486T>A	CA399138577	PEX12	c.232A>T (p.Thr78Ser)
17	g.35577486T>C	CA399138578	PEX12	c.232A>G (p.Thr78Ala)
17	g.35577486T>G	CA399138576	PEX12	c.232A>C (p.Thr78Pro)
17	g.35577487T>A	CA399138579	PEX12	c.231A>T (p.Arg77Ser)
17	g.35577487T>C	CA499903640	PEX12	c.231A>G (p.Arg77=)
17	g.35577487T>G	CA399138580	PEX12	c.231A>C (p.Arg77Ser)	dbSNP
17	g.35577487T=	CA2257561999	PEX12	c.231A= (p.Arg77=)
17	g.35577488del	CA2637283264	PEX12	c.230del (p.Arg77LysfsTer13)	gnomAD v4
17	g.35577488C>A	CA399138581	PEX12	c.230G>T (p.Arg77Ile)
17	g.35577488C>G	CA399138582	PEX12	c.230G>C (p.Arg77Thr)
17	g.35577488C>T	CA399138583	PEX12	c.230G>A (p.Arg77Lys)	gnomAD v4
17	g.35577489T>A	CA399138585	PEX12	c.229A>T (p.Arg77Ter)
17	g.35577489T>C	CA399138584	PEX12	c.229A>G (p.Arg77Gly)
17	g.35577489T>G	CA499903642	PEX12	c.229A>C (p.Arg77=)
17	g.35577490A>C	CA499903643	PEX12	c.228T>G (p.Ser76=)
17	g.35577490A>G	CA499903644	PEX12	c.228T>C (p.Ser76=)
17	g.35577490A>T	CA499903645	PEX12	c.228T>A (p.Ser76=)
17	g.35577491G>A	CA399138586	PEX12	c.227C>T (p.Ser76Phe)	dbSNP
17	g.35577491G>C	CA399138587	PEX12	c.227C>G (p.Ser76Cys)
17	g.35577491G=	CA2257562000	PEX12	c.227C= (p.Ser76=)
17	g.35577491G>T	CA399138588	PEX12	c.227C>A (p.Ser76Tyr)
17	g.35577492A>C	CA399138589	PEX12	c.226T>G (p.Ser76Ala)
17	g.35577492A>G	CA399138590	PEX12	c.226T>C (p.Ser76Pro)
17	g.35577492A>T	CA399138591	PEX12	c.226T>A (p.Ser76Thr)
17	g.35577493C>A	CA499903647	PEX12	c.225G>T (p.Leu75=)
17	g.35577493C=	CA2257562001	PEX12	c.225G= (p.Leu75=)
17	g.35577493C>G	CA499903648	PEX12	c.225G>C (p.Leu75=)
17	g.35577493C>T	CA499903649	PEX12	c.225G>A (p.Leu75=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577493_35577495del	CA913002801	PEX12	c.223_225del (p.Leu75del)
17	g.35577493_35577495delinsCAG	CA2257562002	PEX12	c.223_225delinsCTG (p.Leu75=)
17	g.35577494A>C	CA399138592	PEX12	c.224T>G (p.Leu75Arg)
17	g.35577494A>G	CA399138594	PEX12	c.224T>C (p.Leu75Pro)
17	g.35577494A>T	CA399138593	PEX12	c.224T>A (p.Leu75Gln)
17	g.35577495_35577496del	CA658824206	PEX12	c.223_224del (p.Leu75ValfsTer2)	ClinVar dbSNP gnomAD v4
17	g.35577495G>A	CA499903652	PEX12	c.223C>T (p.Leu75=)	ClinVar dbSNP
17	g.35577495G>C	CA399138595	PEX12	c.223C>G (p.Leu75Val)
17	g.35577495G=	CA2257562003	PEX12	c.223C= (p.Leu75=)
17	g.35577495G>T	CA399138596	PEX12	c.223C>A (p.Leu75Met)
17	g.35577496A=	CA2257562004	PEX12	c.222T= (p.Tyr74=)
17	g.35577496A>C	CA399138597	PEX12	c.222T>G (p.Tyr74Ter)
17	g.35577496A>G	CA499903654	PEX12	c.222T>C (p.Tyr74=)
17	g.35577496A>T	CA8504943	PEX12	c.222T>A (p.Tyr74Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577496dup	CA2573153724	PEX12	c.222dup (p.Leu75SerfsTer3)	ClinVar dbSNP
17	g.35577497T>A	CA399138598	PEX12	c.221A>T (p.Tyr74Phe)
17	g.35577497T>C	CA8504945	PEX12	c.221A>G (p.Tyr74Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577497T>G	CA399138599	PEX12	c.221A>C (p.Tyr74Ser)
17	g.35577497T=	CA2257562005	PEX12	c.221A= (p.Tyr74=)
17	g.35577498A=	CA2257562006	PEX12	c.220T= (p.Tyr74=)
17	g.35577498A>C	CA399138600	PEX12	c.220T>G (p.Tyr74Asp)
17	g.35577498A>G	CA399138601	PEX12	c.220T>C (p.Tyr74His)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577498A>T	CA399138602	PEX12	c.220T>A (p.Tyr74Asn)
17	g.35577499dup	CA8504944	PEX12	c.220dup (p.Tyr74LeufsTer4)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577499A>C	CA399138603	PEX12	c.219T>G (p.His73Gln)
17	g.35577499A>G	CA499903662	PEX12	c.219T>C (p.His73=)
17	g.35577499A>T	CA399138604	PEX12	c.219T>A (p.His73Gln)
17	g.35577500T>A	CA399138606	PEX12	c.218A>T (p.His73Leu)
17	g.35577500T>C	CA290069717	PEX12	c.218A>G (p.His73Arg)	ClinVar dbSNP gnomAD v4
17	g.35577500T>G	CA399138605	PEX12	c.218A>C (p.His73Pro)
17	g.35577500T=	CA2257562007	PEX12	c.218A= (p.His73=)
17	g.35577501G>A	CA399138607	PEX12	c.217C>T (p.His73Tyr)
17	g.35577501G>C	CA399138608	PEX12	c.217C>G (p.His73Asp)
17	g.35577501G>T	CA399138609	PEX12	c.217C>A (p.His73Asn)
17	g.35577502T>A	CA399138610	PEX12	c.216A>T (p.Gln72His)	dbSNP
17	g.35577502T>C	CA8504946	PEX12	c.216A>G (p.Gln72=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577502T>G	CA399138611	PEX12	c.216A>C (p.Gln72His)	dbSNP
17	g.35577502T=	CA2257562008	PEX12	c.216A= (p.Gln72=)
17	g.35577503T>A	CA399138612	PEX12	c.215A>T (p.Gln72Leu)
17	g.35577503T>C	CA399138613	PEX12	c.215A>G (p.Gln72Arg)
17	g.35577503T>G	CA399138614	PEX12	c.215A>C (p.Gln72Pro)
17	g.35577504G>A	CA399138615	PEX12	c.214C>T (p.Gln72Ter)
17	g.35577504G>C	CA399138616	PEX12	c.214C>G (p.Gln72Glu)
17	g.35577504G>T	CA399138617	PEX12	c.214C>A (p.Gln72Lys)
17	g.35577505C>A	CA399138618	PEX12	c.213G>T (p.Gln71His)
17	g.35577505C>G	CA399138619	PEX12	c.213G>C (p.Gln71His)
17	g.35577505C>T	CA499903669	PEX12	c.213G>A (p.Gln71=)
17	g.35577506T>A	CA399138621	PEX12	c.212A>T (p.Gln71Leu)
17	g.35577506T>C	CA399138622	PEX12	c.212A>G (p.Gln71Arg)
17	g.35577506T>G	CA399138620	PEX12	c.212A>C (p.Gln71Pro)
17	g.35577507G>A	CA8504947	PEX12	c.211C>T (p.Gln71Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577507G>C	CA399138623	PEX12	c.211C>G (p.Gln71Glu)
17	g.35577507G=	CA2257562009	PEX12	c.211C= (p.Gln71=)
17	g.35577507G>T	CA399138624	PEX12	c.211C>A (p.Gln71Lys)	ClinVar gnomAD v4
17	g.35577508G>A	CA499903673	PEX12	c.210C>T (p.Leu70=)
17	g.35577508G>C	CA499903674	PEX12	c.210C>G (p.Leu70=)	ClinVar dbSNP
17	g.35577508G>T	CA499903675	PEX12	c.210C>A (p.Leu70=)
17	g.35577508_35577511delinsGAGC	CA2257562010	PEX12	c.207_210delinsGCTC (p.Leu69=)
17	g.35577509A>C	CA399138625	PEX12	c.209T>G (p.Leu70Arg)
17	g.35577509A>G	CA399138626	PEX12	c.209T>C (p.Leu70Pro)
17	g.35577509A>T	CA399138627	PEX12	c.209T>A (p.Leu70His)
17	g.35577511_35577513del	CA728430530	PEX12	c.207_209del (p.Leu70del)	ClinVar dbSNP
17	g.35577510G>A	CA399138628	PEX12	c.208C>T (p.Leu70Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.35577510G>C	CA399138629	PEX12	c.208C>G (p.Leu70Val)
17	g.35577510G=	CA2257562011	PEX12	c.208C= (p.Leu70=)
17	g.35577510G>T	CA399138630	PEX12	c.208C>A (p.Leu70Ile)
17	g.35577511C>A	CA499903682	PEX12	c.207G>T (p.Leu69=)	ClinVar gnomAD v4
17	g.35577511C>G	CA499903684	PEX12	c.207G>C (p.Leu69=)
17	g.35577511C>T	CA499903683	PEX12	c.207G>A (p.Leu69=)
17	g.35577511_35577514delinsCAGA	CA2257562012	PEX12	c.204_207delinsTCTG (p.Leu68=)
17	g.35577512A>C	CA399138631	PEX12	c.206T>G (p.Leu69Arg)
17	g.35577512A>G	CA399138632	PEX12	c.206T>C (p.Leu69Pro)	gnomAD v4
17	g.35577512A>T	CA399138633	PEX12	c.206T>A (p.Leu69Gln)
17	g.35577515_35577517del	CA290069731	PEX12	c.204_206del (p.Leu69del)	ClinVar dbSNP gnomAD v4
17	g.35577513G>A	CA499903689	PEX12	c.205C>T (p.Leu69=)
17	g.35577513G>C	CA399138635	PEX12	c.205C>G (p.Leu69Val)
17	g.35577513G>T	CA399138634	PEX12	c.205C>A (p.Leu69Met)
17	g.35577514A>C	CA499903691	PEX12	c.204T>G (p.Leu68=)
17	g.35577514A>G	CA499903693	PEX12	c.204T>C (p.Leu68=)
17	g.35577514A>T	CA499903692	PEX12	c.204T>A (p.Leu68=)
17	g.35577515A=	CA2257562013	PEX12	c.203T= (p.Leu68=)
17	g.35577515A>C	CA399138636	PEX12	c.203T>G (p.Leu68Arg)
17	g.35577515A>G	CA399138637	PEX12	c.203T>C (p.Leu68Pro)
17	g.35577515A>T	CA399138638	PEX12	c.203T>A (p.Leu68His)	ClinVar dbSNP gnomAD v4
17	g.35577516G>A	CA399138639	PEX12	c.202C>T (p.Leu68Phe)
17	g.35577516G>C	CA399138640	PEX12	c.202C>G (p.Leu68Val)	gnomAD v4
17	g.35577516G=	CA2257562014	PEX12	c.202C= (p.Leu68=)
17	g.35577516G>T	CA8504948	PEX12	c.202C>A (p.Leu68Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577517A=	CA2257562015	PEX12	c.201T= (p.Asp67=)
17	g.35577517A>C	CA399138641	PEX12	c.201T>G (p.Asp67Glu)
17	g.35577517A>G	CA8504949	PEX12	c.201T>C (p.Asp67=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577517A>T	CA399138642	PEX12	c.201T>A (p.Asp67Glu)
17	g.35577518T>A	CA399138643	PEX12	c.200A>T (p.Asp67Val)
17	g.35577518T>C	CA399138644	PEX12	c.200A>G (p.Asp67Gly)	ClinVar dbSNP gnomAD v4
17	g.35577518T>G	CA399138645	PEX12	c.200A>C (p.Asp67Ala)
17	g.35577518T=	CA2257562016	PEX12	c.200A= (p.Asp67=)
17	g.35577519C>A	CA399138646	PEX12	c.199G>T (p.Asp67Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.35577519C=	CA2257562017	PEX12	c.199G= (p.Asp67=)
17	g.35577519C>G	CA399138648	PEX12	c.199G>C (p.Asp67His)
17	g.35577519C>T	CA399138647	PEX12	c.199G>A (p.Asp67Asn)	COSMIC
17	g.35577520T>A	CA499903706	PEX12	c.198A>T (p.Leu66=)
17	g.35577520T>C	CA499903705	PEX12	c.198A>G (p.Leu66=)
17	g.35577520T>G	CA499903704	PEX12	c.198A>C (p.Leu66=)
17	g.35577521A=	CA2257562018	PEX12	c.197T= (p.Leu66=)
17	g.35577521A>C	CA399138649	PEX12	c.197T>G (p.Leu66Arg)
17	g.35577521A>G	CA399138651	PEX12	c.197T>C (p.Leu66Pro)	dbSNP
17	g.35577521A>T	CA399138650	PEX12	c.197T>A (p.Leu66Gln)
17	g.35577522G>A	CA499903711	PEX12	c.196C>T (p.Leu66=)
17	g.35577522G>C	CA399138652	PEX12	c.196C>G (p.Leu66Val)
17	g.35577522G>T	CA399138653	PEX12	c.196C>A (p.Leu66Ile)
17	g.35577523C>A	CA499903713	PEX12	c.195G>T (p.Leu65=)
17	g.35577523C>G	CA499903714	PEX12	c.195G>C (p.Leu65=)
17	g.35577523C>T	CA499903715	PEX12	c.195G>A (p.Leu65=)
17	g.35577523_35577528del	CA913002802	PEX12	c.190_195del (p.Thr64_Leu65del)
17	g.35577523_35577528delinsCAGAGT	CA2257562019	PEX12	c.190_195delinsACTCTG (p.Thr64=)
17	g.35577524A>C	CA399138654	PEX12	c.194T>G (p.Leu65Arg)
17	g.35577524A>G	CA399138656	PEX12	c.194T>C (p.Leu65Pro)	gnomAD v3 gnomAD v4 COSMIC
17	g.35577524A>T	CA399138655	PEX12	c.194T>A (p.Leu65Gln)
17	g.35577525_35577529del	CA626205344	PEX12	c.190_194del (p.Thr64AlafsTer12)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577525G>A	CA499903717	PEX12	c.193C>T (p.Leu65=)	ClinVar dbSNP gnomAD v4
17	g.35577525G>C	CA399138657	PEX12	c.193C>G (p.Leu65Val)
17	g.35577525G=	CA2257562020	PEX12	c.193C= (p.Leu65=)
17	g.35577525G>T	CA290069739	PEX12	c.193C>A (p.Leu65Met)	dbSNP gnomAD v2 gnomAD v4
17	g.35577526A=	CA2257562021	PEX12	c.192T= (p.Thr64=)
17	g.35577526A>C	CA499903720	PEX12	c.192T>G (p.Thr64=)
17	g.35577526A>G	CA499903721	PEX12	c.192T>C (p.Thr64=)	ClinVar dbSNP gnomAD v4
17	g.35577526A>T	CA499903722	PEX12	c.192T>A (p.Thr64=)
17	g.35577527G>A	CA8504950	PEX12	c.191C>T (p.Thr64Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577527G>C	CA399138658	PEX12	c.191C>G (p.Thr64Ser)
17	g.35577527G=	CA2257562022	PEX12	c.191C= (p.Thr64=)
17	g.35577527G>T	CA399138659	PEX12	c.191C>A (p.Thr64Asn)
17	g.35577528T>A	CA399138660	PEX12	c.190A>T (p.Thr64Ser)
17	g.35577528T>C	CA399138661	PEX12	c.190A>G (p.Thr64Ala)
17	g.35577528T>G	CA399138662	PEX12	c.190A>C (p.Thr64Pro)
17	g.35577529A=	CA2257562023	PEX12	c.189T= (p.Phe63=)
17	g.35577529A>C	CA399138663	PEX12	c.189T>G (p.Phe63Leu)
17	g.35577529A>G	CA8504951	PEX12	c.189T>C (p.Phe63=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577529A>T	CA399138664	PEX12	c.189T>A (p.Phe63Leu)
17	g.35577530A>C	CA399138665	PEX12	c.188T>G (p.Phe63Cys)
17	g.35577530A>G	CA399138666	PEX12	c.188T>C (p.Phe63Ser)
17	g.35577530A>T	CA399138667	PEX12	c.188T>A (p.Phe63Tyr)
17	g.35577531A>C	CA399138668	PEX12	c.187T>G (p.Phe63Val)
17	g.35577531A>G	CA399138670	PEX12	c.187T>C (p.Phe63Leu)
17	g.35577531A>T	CA399138669	PEX12	c.187T>A (p.Phe63Ile)
17	g.35577532G>A	CA499903739	PEX12	c.186C>T (p.Ile62=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577532G>C	CA399138671	PEX12	c.186C>G (p.Ile62Met)
17	g.35577532G=	CA2257562024	PEX12	c.186C= (p.Ile62=)
17	g.35577532G>T	CA499903740	PEX12	c.186C>A (p.Ile62=)
17	g.35577533A=	CA2257562025	PEX12	c.185T= (p.Ile62=)
17	g.35577533A>C	CA399138672	PEX12	c.185T>G (p.Ile62Ser)
17	g.35577533A>G	CA399138673	PEX12	c.185T>C (p.Ile62Thr)
17	g.35577533A>T	CA399138674	PEX12	c.185T>A (p.Ile62Asn)
17	g.35577533dup	CA913002803	PEX12	c.185dup (p.Phe63LeufsTer15)
17	g.35577534T>A	CA399138675	PEX12	c.184A>T (p.Ile62Phe)
17	g.35577534T>C	CA399138676	PEX12	c.184A>G (p.Ile62Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577534T>G	CA399138677	PEX12	c.184A>C (p.Ile62Leu)	gnomAD v4 COSMIC
17	g.35577534T=	CA2257562026	PEX12	c.184A= (p.Ile62=)
17	g.35577534_35577536dup	CA658824207	PEX12	c.182_184dup (p.Glu61_Ile62insLys)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577535T>A	CA399138678	PEX12	c.183A>T (p.Glu61Asp)
17	g.35577535T>C	CA499903745	PEX12	c.183A>G (p.Glu61=)
17	g.35577535T>G	CA399138679	PEX12	c.183A>C (p.Glu61Asp)
17	g.35577536T>A	CA399138680	PEX12	c.182A>T (p.Glu61Val)
17	g.35577536T>C	CA399138681	PEX12	c.182A>G (p.Glu61Gly)
17	g.35577536T>G	CA8504952	PEX12	c.182A>C (p.Glu61Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577536T=	CA2257562027	PEX12	c.182A= (p.Glu61=)
17	g.35577537C>A	CA399138682	PEX12	c.181G>T (p.Glu61Ter)
17	g.35577537C>G	CA399138683	PEX12	c.181G>C (p.Glu61Gln)
17	g.35577537C>T	CA399138684	PEX12	c.181G>A (p.Glu61Lys)	COSMIC
17	g.35577538A>C	CA399138685	PEX12	c.180T>G (p.Asp60Glu)
17	g.35577538A>G	CA499903752	PEX12	c.180T>C (p.Asp60=)
17	g.35577538A>T	CA399138686	PEX12	c.180T>A (p.Asp60Glu)
17	g.35577539T>A	CA399138689	PEX12	c.179A>T (p.Asp60Val)
17	g.35577539T>C	CA399138687	PEX12	c.179A>G (p.Asp60Gly)
17	g.35577539T>G	CA399138688	PEX12	c.179A>C (p.Asp60Ala)
17	g.35577540C>A	CA8504953	PEX12	c.178G>T (p.Asp60Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577540C=	CA2257562028	PEX12	c.178G= (p.Asp60=)
17	g.35577540C>G	CA399138690	PEX12	c.178G>C (p.Asp60His)	COSMIC
17	g.35577540C>T	CA399138691	PEX12	c.178G>A (p.Asp60Asn)	gnomAD v4
17	g.35577541A>C	CA399138692	PEX12	c.177T>G (p.Phe59Leu)
17	g.35577541A>G	CA499903760	PEX12	c.177T>C (p.Phe59=)
17	g.35577541A>T	CA399138693	PEX12	c.177T>A (p.Phe59Leu)
17	g.35577542A=	CA2257562029	PEX12	c.176T= (p.Phe59=)
17	g.35577542A>C	CA399138694	PEX12	c.176T>G (p.Phe59Cys)
17	g.35577542A>G	CA8504954	PEX12	c.176T>C (p.Phe59Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577542A>T	CA399138695	PEX12	c.176T>A (p.Phe59Tyr)
17	g.35577543A=	CA2257562030	PEX12	c.175T= (p.Phe59=)
17	g.35577543A>C	CA399138696	PEX12	c.175T>G (p.Phe59Val)	dbSNP
17	g.35577543A>G	CA399138697	PEX12	c.175T>C (p.Phe59Leu)
17	g.35577543A>T	CA399138698	PEX12	c.175T>A (p.Phe59Ile)
17	g.35577544C>A	CA399138699	PEX12	c.174G>T (p.Trp58Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577544C=	CA2257562031	PEX12	c.174G= (p.Trp58=)
17	g.35577544C>G	CA399138700	PEX12	c.174G>C (p.Trp58Cys)
17	g.35577544C>T	CA399138701	PEX12	c.174G>A (p.Trp58Ter)
17	g.35577545del	CA2499224289	PEX12	c.174del (p.Trp58CysfsTer9)	ClinVar dbSNP
17	g.35577545C>A	CA399138702	PEX12	c.173G>T (p.Trp58Leu)
17	g.35577545C=	CA2257562032	PEX12	c.173G= (p.Trp58=)
17	g.35577545C>G	CA399138703	PEX12	c.173G>C (p.Trp58Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.35577545C>T	CA399138704	PEX12	c.173G>A (p.Trp58Ter)
17	g.35577546A=	CA2257562033	PEX12	c.172T= (p.Trp58=)
17	g.35577546A>C	CA399138705	PEX12	c.172T>G (p.Trp58Gly)	dbSNP
17	g.35577546A>G	CA399138706	PEX12	c.172T>C (p.Trp58Arg)
17	g.35577546A>T	CA399138707	PEX12	c.172T>A (p.Trp58Arg)
17	g.35577547C>A	CA399138708	PEX12	c.171G>T (p.Arg57Ser)
17	g.35577547C>G	CA399138709	PEX12	c.171G>C (p.Arg57Ser)	gnomAD v4
17	g.35577547C>T	CA499903775	PEX12	c.171G>A (p.Arg57=)
17	g.35577548del	CA2637283379	PEX12	c.171del (p.Arg57SerfsTer10)	gnomAD v4
17	g.35577548C>A	CA399138710	PEX12	c.170G>T (p.Arg57Met)	dbSNP gnomAD v2 gnomAD v4
17	g.35577548C=	CA2257562034	PEX12	c.170G= (p.Arg57=)
17	g.35577548C>G	CA399138711	PEX12	c.170G>C (p.Arg57Thr)
17	g.35577548C>T	CA399138712	PEX12	c.170G>A (p.Arg57Lys)	gnomAD v4
17	g.35577549T>A	CA399138713	PEX12	c.169A>T (p.Arg57Trp)
17	g.35577549T>C	CA399138714	PEX12	c.169A>G (p.Arg57Gly)
17	g.35577549T>G	CA499903778	PEX12	c.169A>C (p.Arg57=)
17	g.35577550C>A	CA399138715	PEX12	c.168G>T (p.Trp56Cys)
17	g.35577550C>G	CA399138716	PEX12	c.168G>C (p.Trp56Cys)
17	g.35577550C>T	CA399138717	PEX12	c.168G>A (p.Trp56Ter)
17	g.35577551_35577553del	CA2637283384	PEX12	c.166_168del (p.Trp56del)	gnomAD v4
17	g.35577551C>A	CA399138718	PEX12	c.167G>T (p.Trp56Leu)	gnomAD v4
17	g.35577551C>G	CA399138719	PEX12	c.167G>C (p.Trp56Ser)
17	g.35577551C>T	CA399138720	PEX12	c.167G>A (p.Trp56Ter)

Number of alleles fetched