Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35576076_35576079del	CA913002568	PEX12	c.785_788del (p.Asp262GlyfsTer14)
17	g.35576079A=	CA2257586716	PEX12	c.783T= (p.Leu261=)
17	g.35576079A>C	CA499903687	PEX12	c.783T>G (p.Leu261=)	COSMIC
17	g.35576079A>G	CA499903688	PEX12	c.783T>C (p.Leu261=)	ClinVar dbSNP
17	g.35576079A>T	CA499903690	PEX12	c.783T>A (p.Leu261=)
17	g.35576080A>C	CA399137393	PEX12	c.782T>G (p.Leu261Arg)
17	g.35576080A>G	CA399137394	PEX12	c.782T>C (p.Leu261Pro)	gnomAD v4
17	g.35576080A>T	CA399137395	PEX12	c.782T>A (p.Leu261His)	gnomAD v4
17	g.35576080_35576081del	CA913002570	PEX12	c.781_782del (p.Leu261Ter)
17	g.35576080_35576081delinsAG	CA2257586719	PEX12	c.781_782delinsCT (p.Leu261=)
17	g.35576081G>A	CA8504842	PEX12	c.781C>T (p.Leu261Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576081G>C	CA399137396	PEX12	c.781C>G (p.Leu261Val)
17	g.35576081G=	CA2257586725	PEX12	c.781C= (p.Leu261=)
17	g.35576081G>T	CA399137397	PEX12	c.781C>A (p.Leu261Ile)	gnomAD v4
17	g.35576082del	CA290068331	PEX12	c.781del (p.Asp262ThrfsTer15)	ClinVar dbSNP gnomAD v4
17	g.35576082G>A	CA499903697	PEX12	c.780C>T (p.Phe260=)	gnomAD v4
17	g.35576082G>C	CA399137398	PEX12	c.780C>G (p.Phe260Leu)	gnomAD v4
17	g.35576082G>T	CA399137399	PEX12	c.780C>A (p.Phe260Leu)	gnomAD v4
17	g.35576083A>C	CA399137400	PEX12	c.779T>G (p.Phe260Cys)
17	g.35576083A>G	CA399137401	PEX12	c.779T>C (p.Phe260Ser)
17	g.35576083A>T	CA399137402	PEX12	c.779T>A (p.Phe260Tyr)
17	g.35576084A>C	CA399137403	PEX12	c.778T>G (p.Phe260Val)
17	g.35576084A>G	CA399137404	PEX12	c.778T>C (p.Phe260Leu)
17	g.35576084A>T	CA399137405	PEX12	c.778T>A (p.Phe260Ile)
17	g.35576085C>A	CA399137406	PEX12	c.777G>T (p.Gln259His)
17	g.35576085C=	CA2257586727	PEX12	c.777G= (p.Gln259=)
17	g.35576085C>G	CA399137407	PEX12	c.777G>C (p.Gln259His)
17	g.35576085C>T	CA499903702	PEX12	c.777G>A (p.Gln259=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35576086T>A	CA399137408	PEX12	c.776A>T (p.Gln259Leu)
17	g.35576086T>C	CA399137409	PEX12	c.776A>G (p.Gln259Arg)
17	g.35576086T>G	CA399137410	PEX12	c.776A>C (p.Gln259Pro)
17	g.35576087G>A	CA399137413	PEX12	c.775C>T (p.Gln259Ter)	ClinVar
17	g.35576087G>C	CA399137412	PEX12	c.775C>G (p.Gln259Glu)
17	g.35576087G>T	CA399137411	PEX12	c.775C>A (p.Gln259Lys)
17	g.35576088C>A	CA399137414	PEX12	c.774G>T (p.Leu258Phe)
17	g.35576088C>G	CA399137415	PEX12	c.774G>C (p.Leu258Phe)
17	g.35576088C>T	CA499903708	PEX12	c.774G>A (p.Leu258=)
17	g.35576088_35576091delinsCAAG	CA2257586731	PEX12	c.771_774delinsCTTG (p.Phe257=)
17	g.35576089A>C	CA399137416	PEX12	c.773T>G (p.Leu258Trp)
17	g.35576089A>G	CA399137417	PEX12	c.773T>C (p.Leu258Ser)
17	g.35576089A>T	CA399137418	PEX12	c.773T>A (p.Leu258Ter)
17	g.35576094_35576096del	CA919831257	PEX12	c.771_773del (p.Phe257del)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35576090A=	CA2257586735	PEX12	c.772T= (p.Leu258=)
17	g.35576090A>C	CA399137419	PEX12	c.772T>G (p.Leu258Val)
17	g.35576090A>G	CA8504843	PEX12	c.772T>C (p.Leu258=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35576090A>T	CA399137420	PEX12	c.772T>A (p.Leu258Met)
17	g.35576090_35576091delinsAG	CA2257586737	PEX12	c.771_772delinsCT (p.Phe257=)
17	g.35576091_35576092del	CA913002574	PEX12	c.771_772del (p.Leu258AlafsTer4)
17	g.35576091del	CA658824203	PEX12	c.771del (p.Leu258CysfsTer19)	ClinVar dbSNP
17	g.35576091G>A	CA499903712	PEX12	c.771C>T (p.Phe257=)	gnomAD v4 COSMIC
17	g.35576091G>C	CA399137421	PEX12	c.771C>G (p.Phe257Leu)
17	g.35576091G>T	CA399137422	PEX12	c.771C>A (p.Phe257Leu)
17	g.35576092A>C	CA399137423	PEX12	c.770T>G (p.Phe257Cys)
17	g.35576092A>G	CA399137424	PEX12	c.770T>C (p.Phe257Ser)
17	g.35576092A>T	CA399137425	PEX12	c.770T>A (p.Phe257Tyr)
17	g.35576093A>C	CA399137428	PEX12	c.769T>G (p.Phe257Val)
17	g.35576093A>G	CA399137426	PEX12	c.769T>C (p.Phe257Leu)
17	g.35576093A>T	CA399137427	PEX12	c.769T>A (p.Phe257Ile)
17	g.35576094G>A	CA499903716	PEX12	c.768C>T (p.Phe256=)	gnomAD v4
17	g.35576094G>C	CA399137429	PEX12	c.768C>G (p.Phe256Leu)	COSMIC
17	g.35576094G>T	CA399137430	PEX12	c.768C>A (p.Phe256Leu)	gnomAD v4
17	g.35576095A=	CA2257586746	PEX12	c.767T= (p.Phe256=)
17	g.35576095A>C	CA399137431	PEX12	c.767T>G (p.Phe256Cys)
17	g.35576095A>G	CA399137432	PEX12	c.767T>C (p.Phe256Ser)	gnomAD v4
17	g.35576095A>T	CA399137433	PEX12	c.767T>A (p.Phe256Tyr)
17	g.35576096A>C	CA399137434	PEX12	c.766T>G (p.Phe256Val)
17	g.35576096A>G	CA399137435	PEX12	c.766T>C (p.Phe256Leu)	gnomAD v4
17	g.35576096A>T	CA399137436	PEX12	c.766T>A (p.Phe256Ile)
17	g.35576097_35576098dup	CA16044285	PEX12	c.765_766dup (p.Phe256TyrfsTer22)	ClinVar dbSNP
17	g.35576097T>A	CA499903723	PEX12	c.765A>T (p.Val255=)
17	g.35576097T>C	CA499903724	PEX12	c.765A>G (p.Val255=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35576097T>G	CA499903725	PEX12	c.765A>C (p.Val255=)
17	g.35576097T=	CA2257586761	PEX12	c.765A= (p.Val255=)
17	g.35576098A>C	CA399137437	PEX12	c.764T>G (p.Val255Gly)
17	g.35576098A>G	CA399137438	PEX12	c.764T>C (p.Val255Ala)
17	g.35576098A>T	CA399137439	PEX12	c.764T>A (p.Val255Glu)
17	g.35576099C>A	CA399137440	PEX12	c.763G>T (p.Val255Leu)
17	g.35576099C=	CA2257586764	PEX12	c.763G= (p.Val255=)
17	g.35576099C>G	CA399137441	PEX12	c.763G>C (p.Val255Leu)	gnomAD v4
17	g.35576099C>T	CA8504844	PEX12	c.763G>A (p.Val255Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576100A>C	CA499903727	PEX12	c.762T>G (p.Gly254=)
17	g.35576100A>G	CA499903729	PEX12	c.762T>C (p.Gly254=)	gnomAD v4
17	g.35576100A>T	CA499903730	PEX12	c.762T>A (p.Gly254=)
17	g.35576101C>A	CA399137442	PEX12	c.761G>T (p.Gly254Val)
17	g.35576101C=	CA2257586768	PEX12	c.761G= (p.Gly254=)
17	g.35576101C>G	CA399137444	PEX12	c.761G>C (p.Gly254Ala)	ClinVar dbSNP
17	g.35576101C>T	CA399137443	PEX12	c.761G>A (p.Gly254Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.35576102C>A	CA399137445	PEX12	c.760G>T (p.Gly254Cys)
17	g.35576102C=	CA2257586771	PEX12	c.760G= (p.Gly254=)
17	g.35576102C>G	CA8504845	PEX12	c.760G>C (p.Gly254Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35576102C>T	CA399137446	PEX12	c.760G>A (p.Gly254Ser)	ClinVar gnomAD v4
17	g.35576103C>A	CA499903733	PEX12	c.759G>T (p.Val253=)
17	g.35576103C>G	CA499903735	PEX12	c.759G>C (p.Val253=)
17	g.35576103C>T	CA499903737	PEX12	c.759G>A (p.Val253=)
17	g.35576104A=	CA2257586778	PEX12	c.758T= (p.Val253=)
17	g.35576104A>C	CA399137447	PEX12	c.758T>G (p.Val253Gly)	dbSNP gnomAD v4
17	g.35576104A>G	CA8504846	PEX12	c.758T>C (p.Val253Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576104A>T	CA399137448	PEX12	c.758T>A (p.Val253Glu)
17	g.35576105C>A	CA399137449	PEX12	c.757G>T (p.Val253Leu)
17	g.35576105C>G	CA399137450	PEX12	c.757G>C (p.Val253Leu)
17	g.35576105C>T	CA399137451	PEX12	c.757G>A (p.Val253Met)	gnomAD v4
17	g.35576106A=	CA2257586783	PEX12	c.756T= (p.Ser252=)
17	g.35576106A>C	CA499903742	PEX12	c.756T>G (p.Ser252=)
17	g.35576106A>G	CA290068358	PEX12	c.756T>C (p.Ser252=)	dbSNP gnomAD v3 gnomAD v4
17	g.35576106A>T	CA499903743	PEX12	c.756T>A (p.Ser252=)
17	g.35576107G>A	CA399137452	PEX12	c.755C>T (p.Ser252Phe)
17	g.35576107G>C	CA399137453	PEX12	c.755C>G (p.Ser252Cys)
17	g.35576107G>T	CA399137454	PEX12	c.755C>A (p.Ser252Tyr)
17	g.35576108A>C	CA399137455	PEX12	c.754T>G (p.Ser252Ala)
17	g.35576108A>G	CA399137456	PEX12	c.754T>C (p.Ser252Pro)	gnomAD v4
17	g.35576108A>T	CA399137457	PEX12	c.754T>A (p.Ser252Thr)
17	g.35576109A>C	CA499903749	PEX12	c.753T>G (p.Leu251=)
17	g.35576109A>G	CA499903748	PEX12	c.753T>C (p.Leu251=)
17	g.35576109A>T	CA499903747	PEX12	c.753T>A (p.Leu251=)
17	g.35576110A=	CA2257586786	PEX12	c.752T= (p.Leu251=)
17	g.35576110A>C	CA399137458	PEX12	c.752T>G (p.Leu251Arg)
17	g.35576110A>G	CA399137460	PEX12	c.752T>C (p.Leu251Pro)
17	g.35576110A>T	CA399137459	PEX12	c.752T>A (p.Leu251His)	dbSNP
17	g.35576111G>A	CA399137461	PEX12	c.751C>T (p.Leu251Phe)
17	g.35576111G>C	CA399137462	PEX12	c.751C>G (p.Leu251Val)
17	g.35576111G>T	CA399137463	PEX12	c.751C>A (p.Leu251Ile)
17	g.35576112G>A	CA499903750	PEX12	c.750C>T (p.Gly250=)
17	g.35576112G>C	CA499903754	PEX12	c.750C>G (p.Gly250=)
17	g.35576112G>T	CA499903753	PEX12	c.750C>A (p.Gly250=)	gnomAD v4
17	g.35576113C>A	CA399137464	PEX12	c.749G>T (p.Gly250Val)
17	g.35576113C>G	CA399137465	PEX12	c.749G>C (p.Gly250Ala)
17	g.35576113C>T	CA399137466	PEX12	c.749G>A (p.Gly250Asp)
17	g.35576114C>A	CA399137467	PEX12	c.748G>T (p.Gly250Cys)
17	g.35576114C>G	CA399137468	PEX12	c.748G>C (p.Gly250Arg)
17	g.35576114C>T	CA399137469	PEX12	c.748G>A (p.Gly250Ser)
17	g.35576115A>C	CA499903759	PEX12	c.747T>G (p.Thr249=)
17	g.35576115A>G	CA499903758	PEX12	c.747T>C (p.Thr249=)
17	g.35576115A>T	CA499903757	PEX12	c.747T>A (p.Thr249=)
17	g.35576115dup	CA2637282672	PEX12	c.747dup (p.Gly250TrpfsTer13)	gnomAD v4
17	g.35576116G>A	CA399137472	PEX12	c.746C>T (p.Thr249Ile)
17	g.35576116G>C	CA399137471	PEX12	c.746C>G (p.Thr249Ser)
17	g.35576116G>T	CA399137470	PEX12	c.746C>A (p.Thr249Asn)
17	g.35576117T>A	CA399137473	PEX12	c.745A>T (p.Thr249Ser)
17	g.35576117T>C	CA8504847	PEX12	c.745A>G (p.Thr249Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576117T>G	CA399137474	PEX12	c.745A>C (p.Thr249Pro)
17	g.35576117T=	CA2257586791	PEX12	c.745A= (p.Thr249=)
17	g.35576117dup	CA913002609	PEX12	c.745dup (p.Thr249AsnfsTer14)
17	g.35576118A>C	CA499903766	PEX12	c.744T>G (p.Ser248=)
17	g.35576118A>G	CA499903765	PEX12	c.744T>C (p.Ser248=)	ClinVar
17	g.35576118A>T	CA499903764	PEX12	c.744T>A (p.Ser248=)
17	g.35576118dup	CA290068377	PEX12	c.744dup (p.Thr249TyrfsTer14)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576119G>A	CA399137475	PEX12	c.743C>T (p.Ser248Phe)
17	g.35576119G>C	CA399137476	PEX12	c.743C>G (p.Ser248Cys)	COSMIC
17	g.35576119G>T	CA399137477	PEX12	c.743C>A (p.Ser248Tyr)	gnomAD v4
17	g.35576120A=	CA2257586802	PEX12	c.742T= (p.Ser248=)
17	g.35576120A>C	CA399137478	PEX12	c.742T>G (p.Ser248Ala)
17	g.35576120A>G	CA399137479	PEX12	c.742T>C (p.Ser248Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.35576120A>T	CA399137480	PEX12	c.742T>A (p.Ser248Thr)
17	g.35576121C>A	CA499903769	PEX12	c.741G>T (p.Leu247=)	dbSNP gnomAD v2
17	g.35576121C=	CA2257586804	PEX12	c.741G= (p.Leu247=)
17	g.35576121C>G	CA499903768	PEX12	c.741G>C (p.Leu247=)
17	g.35576121C>T	CA499903767	PEX12	c.741G>A (p.Leu247=)
17	g.35576122A=	CA2257586807	PEX12	c.740T= (p.Leu247=)
17	g.35576122A>C	CA399137481	PEX12	c.740T>G (p.Leu247Arg)
17	g.35576122A>G	CA399137482	PEX12	c.740T>C (p.Leu247Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35576122A>T	CA399137483	PEX12	c.740T>A (p.Leu247Gln)
17	g.35576123G>A	CA499903770	PEX12	c.739C>T (p.Leu247=)	dbSNP gnomAD v2 gnomAD v4
17	g.35576123G>C	CA290068383	PEX12	c.739C>G (p.Leu247Val)	ClinVar dbSNP gnomAD v4
17	g.35576123G=	CA2257586812	PEX12	c.739C= (p.Leu247=)
17	g.35576123G>T	CA399137484	PEX12	c.739C>A (p.Leu247Met)
17	g.35576124G>A	CA499903772	PEX12	c.738C>T (p.Ser246=)	gnomAD v4
17	g.35576124G>C	CA499903773	PEX12	c.738C>G (p.Ser246=)
17	g.35576124G>T	CA499903774	PEX12	c.738C>A (p.Ser246=)	COSMIC
17	g.35576125G>A	CA399137485	PEX12	c.737C>T (p.Ser246Phe)
17	g.35576125G>C	CA399137486	PEX12	c.737C>G (p.Ser246Cys)
17	g.35576125G=	CA2257586818	PEX12	c.737C= (p.Ser246=)
17	g.35576125G>T	CA8504848	PEX12	c.737C>A (p.Ser246Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576126A=	CA2257586821	PEX12	c.736T= (p.Ser246=)
17	g.35576126A>C	CA399137487	PEX12	c.736T>G (p.Ser246Ala)
17	g.35576126A>G	CA8504849	PEX12	c.736T>C (p.Ser246Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576126A>T	CA399137488	PEX12	c.736T>A (p.Ser246Thr)
17	g.35576127T>A	CA399137489	PEX12	c.735A>T (p.Leu245Phe)
17	g.35576127T>C	CA499903777	PEX12	c.735A>G (p.Leu245=)
17	g.35576127T>G	CA399137490	PEX12	c.735A>C (p.Leu245Phe)
17	g.35576128A=	CA2257586824	PEX12	c.734T= (p.Leu245=)
17	g.35576128A>C	CA399137491	PEX12	c.734T>G (p.Leu245Ter)
17	g.35576128A>G	CA399137492	PEX12	c.734T>C (p.Leu245Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35576128A>T	CA399137493	PEX12	c.734T>A (p.Leu245Ter)
17	g.35576129A=	CA2257586826	PEX12	c.733T= (p.Leu245=)
17	g.35576129A>C	CA399137494	PEX12	c.733T>G (p.Leu245Val)
17	g.35576129A>G	CA499903780	PEX12	c.733T>C (p.Leu245=)
17	g.35576129A>T	CA8504851	PEX12	c.733T>A (p.Leu245Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576130_35576133dup	CA8504850	PEX12	c.730_733dup (p.Leu245CysfsTer19)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576130G>A	CA499903781	PEX12	c.732C>T (p.Ala244=)
17	g.35576130G>C	CA499903782	PEX12	c.732C>G (p.Ala244=)
17	g.35576130G>T	CA499903783	PEX12	c.732C>A (p.Ala244=)
17	g.35576131G>A	CA399137497	PEX12	c.731C>T (p.Ala244Val)
17	g.35576131G>C	CA399137495	PEX12	c.731C>G (p.Ala244Gly)
17	g.35576131G>T	CA399137496	PEX12	c.731C>A (p.Ala244Asp)
17	g.35576132C>A	CA399137498	PEX12	c.730G>T (p.Ala244Ser)
17	g.35576132C=	CA2257586834	PEX12	c.730G= (p.Ala244=)
17	g.35576132C>G	CA399137499	PEX12	c.730G>C (p.Ala244Pro)
17	g.35576132C>T	CA399137500	PEX12	c.730G>A (p.Ala244Thr)	dbSNP
17	g.35576137_35576145del	CA2576233636	PEX12	c.722_730del (p.Gly241_Val243del)
17	g.35576133A>C	CA499903785	PEX12	c.729T>G (p.Val243=)
17	g.35576133A>G	CA499903787	PEX12	c.729T>C (p.Val243=)
17	g.35576133A>T	CA499903788	PEX12	c.729T>A (p.Val243=)
17	g.35576134A>C	CA399137503	PEX12	c.728T>G (p.Val243Gly)
17	g.35576134A>G	CA399137502	PEX12	c.728T>C (p.Val243Ala)
17	g.35576134A>T	CA399137501	PEX12	c.728T>A (p.Val243Asp)
17	g.35576135C>A	CA399137504	PEX12	c.727G>T (p.Val243Phe)	ClinVar
17	g.35576135C>G	CA399137505	PEX12	c.727G>C (p.Val243Leu)
17	g.35576135C>T	CA399137506	PEX12	c.727G>A (p.Val243Ile)	ClinVar
17	g.35576136A=	CA2257586837	PEX12	c.726T= (p.Gly242=)
17	g.35576136A>C	CA499903793	PEX12	c.726T>G (p.Gly242=)
17	g.35576136A>G	CA499903791	PEX12	c.726T>C (p.Gly242=)	dbSNP
17	g.35576136A>T	CA499903792	PEX12	c.726T>A (p.Gly242=)
17	g.35576137C>A	CA399137507	PEX12	c.725G>T (p.Gly242Val)
17	g.35576137C=	CA2257586841	PEX12	c.725G= (p.Gly242=)
17	g.35576137C>G	CA290068433	PEX12	c.725G>C (p.Gly242Ala)	dbSNP
17	g.35576137C>T	CA399137508	PEX12	c.725G>A (p.Gly242Asp)
17	g.35576141dup	CA2576233637	PEX12	c.725dup (p.Val243CysfsTer20)
17	g.35576141del	CA2580093581	PEX12	c.725del (p.Gly242ValfsTer?)	ClinVar
17	g.35576138C>A	CA399137509	PEX12	c.724G>T (p.Gly242Cys)
17	g.35576138C=	CA2257586843	PEX12	c.724G= (p.Gly242=)
17	g.35576138C>G	CA399137510	PEX12	c.724G>C (p.Gly242Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.35576138C>T	CA8504852	PEX12	c.724G>A (p.Gly242Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576139C>A	CA499903798	PEX12	c.723G>T (p.Gly241=)
17	g.35576139C=	CA2257586848	PEX12	c.723G= (p.Gly241=)
17	g.35576139C>G	CA499903800	PEX12	c.723G>C (p.Gly241=)
17	g.35576139C>T	CA8504853	PEX12	c.723G>A (p.Gly241=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576140C>A	CA8504854	PEX12	c.722G>T (p.Gly241Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576140C=	CA2257586853	PEX12	c.722G= (p.Gly241=)
17	g.35576140C>G	CA399137511	PEX12	c.722G>C (p.Gly241Ala)
17	g.35576140C>T	CA399137512	PEX12	c.722G>A (p.Gly241Glu)	dbSNP gnomAD v2
17	g.35576141C>A	CA399137513	PEX12	c.721G>T (p.Gly241Trp)
17	g.35576141C=	CA2257586859	PEX12	c.721G= (p.Gly241=)
17	g.35576141C>G	CA399137514	PEX12	c.721G>C (p.Gly241Arg)	dbSNP gnomAD v4
17	g.35576141C>T	CA399137515	PEX12	c.721G>A (p.Gly241Arg)
17	g.35576142A>C	CA499903807	PEX12	c.720T>G (p.Val240=)
17	g.35576142A>G	CA499903808	PEX12	c.720T>C (p.Val240=)
17	g.35576142A>T	CA499903809	PEX12	c.720T>A (p.Val240=)
17	g.35576143A>C	CA399137516	PEX12	c.719T>G (p.Val240Gly)
17	g.35576143A>G	CA399137517	PEX12	c.719T>C (p.Val240Ala)
17	g.35576143A>T	CA399137518	PEX12	c.719T>A (p.Val240Asp)
17	g.35576144C>A	CA399137520	PEX12	c.718G>T (p.Val240Phe)	gnomAD v4
17	g.35576144C=	CA2257586862	PEX12	c.718G= (p.Val240=)
17	g.35576144C>G	CA399137519	PEX12	c.718G>C (p.Val240Leu)
17	g.35576144C>T	CA290068473	PEX12	c.718G>A (p.Val240Ile)	dbSNP gnomAD v4
17	g.35576145A>C	CA499903813	PEX12	c.717T>G (p.Ala239=)
17	g.35576145A>G	CA499903812	PEX12	c.717T>C (p.Ala239=)
17	g.35576145A>T	CA499903811	PEX12	c.717T>A (p.Ala239=)
17	g.35576146G>A	CA399137521	PEX12	c.716C>T (p.Ala239Val)
17	g.35576146G>C	CA399137522	PEX12	c.716C>G (p.Ala239Gly)
17	g.35576146G>T	CA399137523	PEX12	c.716C>A (p.Ala239Asp)
17	g.35576147C>A	CA399137524	PEX12	c.715G>T (p.Ala239Ser)
17	g.35576147C>G	CA399137525	PEX12	c.715G>C (p.Ala239Pro)
17	g.35576147C>T	CA399137526	PEX12	c.715G>A (p.Ala239Thr)
17	g.35576148T>A	CA399137527	PEX12	c.714A>T (p.Lys238Asn)
17	g.35576148T>C	CA499903815	PEX12	c.714A>G (p.Lys238=)	ClinVar dbSNP gnomAD v4
17	g.35576148T>G	CA399137528	PEX12	c.714A>C (p.Lys238Asn)
17	g.35576149T>A	CA399137529	PEX12	c.713A>T (p.Lys238Ile)
17	g.35576149T>C	CA399137530	PEX12	c.713A>G (p.Lys238Arg)
17	g.35576149T>G	CA399137531	PEX12	c.713A>C (p.Lys238Thr)	dbSNP
17	g.35576149T=	CA2257586865	PEX12	c.713A= (p.Lys238=)
17	g.35576150T>A	CA399137532	PEX12	c.712A>T (p.Lys238Ter)
17	g.35576150T>C	CA399137533	PEX12	c.712A>G (p.Lys238Glu)
17	g.35576150T>G	CA399137534	PEX12	c.712A>C (p.Lys238Gln)
17	g.35576151C>A	CA399137535	PEX12	c.711G>T (p.Lys237Asn)
17	g.35576151C=	CA2257586867	PEX12	c.711G= (p.Lys237=)
17	g.35576151C>G	CA399137536	PEX12	c.711G>C (p.Lys237Asn)	dbSNP gnomAD v4
17	g.35576151C>T	CA499903817	PEX12	c.711G>A (p.Lys237=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576152T>A	CA399137537	PEX12	c.710A>T (p.Lys237Met)
17	g.35576152T>C	CA399137538	PEX12	c.710A>G (p.Lys237Arg)
17	g.35576152T>G	CA399137539	PEX12	c.710A>C (p.Lys237Thr)
17	g.35576153T>A	CA399137540	PEX12	c.709A>T (p.Lys237Ter)
17	g.35576153T>C	CA399137541	PEX12	c.709A>G (p.Lys237Glu)
17	g.35576153T>G	CA399137542	PEX12	c.709A>C (p.Lys237Gln)
17	g.35576154C>A	CA499903819	PEX12	c.708G>T (p.Leu236=)
17	g.35576154C=	CA2257586872	PEX12	c.708G= (p.Leu236=)
17	g.35576154C>G	CA499903820	PEX12	c.708G>C (p.Leu236=)
17	g.35576154C>T	CA499903821	PEX12	c.708G>A (p.Leu236=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35576155A=	CA2257586873	PEX12	c.707T= (p.Leu236=)
17	g.35576155A>C	CA399137543	PEX12	c.707T>G (p.Leu236Arg)
17	g.35576155A>G	CA399137544	PEX12	c.707T>C (p.Leu236Pro)	dbSNP
17	g.35576155A>T	CA399137545	PEX12	c.707T>A (p.Leu236Gln)
17	g.35576156G>A	CA499795125	PEX12	c.706C>T (p.Leu236=)	ClinVar dbSNP
17	g.35576156G>C	CA399137546	PEX12	c.706C>G (p.Leu236Val)
17	g.35576156G>T	CA399137547	PEX12	c.706C>A (p.Leu236Met)
17	g.35576157A=	CA2257586875	PEX12	c.705T= (p.Ala235=)
17	g.35576157A>C	CA499795126	PEX12	c.705T>G (p.Ala235=)
17	g.35576157A>G	CA499795128	PEX12	c.705T>C (p.Ala235=)	ClinVar dbSNP
17	g.35576157A>T	CA499795127	PEX12	c.705T>A (p.Ala235=)
17	g.35576158G>A	CA8504855	PEX12	c.704C>T (p.Ala235Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35576158G>C	CA399137549	PEX12	c.704C>G (p.Ala235Gly)
17	g.35576158G=	CA2257586877	PEX12	c.704C= (p.Ala235=)
17	g.35576158G>T	CA399137548	PEX12	c.704C>A (p.Ala235Asp)
17	g.35576159C>A	CA399137550	PEX12	c.703G>T (p.Ala235Ser)
17	g.35576159C>G	CA399137552	PEX12	c.703G>C (p.Ala235Pro)
17	g.35576159C>T	CA399137551	PEX12	c.703G>A (p.Ala235Thr)	COSMIC
17	g.35576160T>A	CA499795129	PEX12	c.702A>T (p.Ser234=)
17	g.35576160T>C	CA290068481	PEX12	c.702A>G (p.Ser234=)	dbSNP gnomAD v2 gnomAD v4
17	g.35576160T>G	CA499795130	PEX12	c.702A>C (p.Ser234=)
17	g.35576160T=	CA2257586880	PEX12	c.702A= (p.Ser234=)
17	g.35576161G>A	CA399137553	PEX12	c.701C>T (p.Ser234Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.35576161G>C	CA399137555	PEX12	c.701C>G (p.Ser234Ter)
17	g.35576161G=	CA2257586884	PEX12	c.701C= (p.Ser234=)
17	g.35576161G>T	CA399137554	PEX12	c.701C>A (p.Ser234Ter)
17	g.35576162A>C	CA399137556	PEX12	c.700T>G (p.Ser234Ala)
17	g.35576162A>G	CA399137557	PEX12	c.700T>C (p.Ser234Pro)
17	g.35576162A>T	CA399137558	PEX12	c.700T>A (p.Ser234Thr)
17	g.35576163G>A	CA499795131	PEX12	c.699C>T (p.Asn233=)	ClinVar dbSNP
17	g.35576163G>C	CA399137559	PEX12	c.699C>G (p.Asn233Lys)	dbSNP
17	g.35576163G>T	CA399137560	PEX12	c.699C>A (p.Asn233Lys)
17	g.35576164T>A	CA399137561	PEX12	c.698A>T (p.Asn233Ile)
17	g.35576164T>C	CA399137562	PEX12	c.698A>G (p.Asn233Ser)
17	g.35576164T>G	CA399137563	PEX12	c.698A>C (p.Asn233Thr)
17	g.35576166dup	CA2739267446	PEX12	c.698dup (p.Asn233LysfsTer30)	ClinVar
17	g.35576165T>A	CA399137564	PEX12	c.697A>T (p.Asn233Tyr)
17	g.35576165T>C	CA399137565	PEX12	c.697A>G (p.Asn233Asp)
17	g.35576165T>G	CA399137566	PEX12	c.697A>C (p.Asn233His)	COSMIC
17	g.35576166T>A	CA499795132	PEX12	c.696A>T (p.Ile232=)
17	g.35576166T>C	CA399137567	PEX12	c.696A>G (p.Ile232Met)	dbSNP gnomAD v4
17	g.35576166T>G	CA499795133	PEX12	c.696A>C (p.Ile232=)
17	g.35576166T=	CA2257586887	PEX12	c.696A= (p.Ile232=)
17	g.35576167A>C	CA399137570	PEX12	c.695T>G (p.Ile232Arg)	gnomAD v4
17	g.35576167A>G	CA399137569	PEX12	c.695T>C (p.Ile232Thr)	gnomAD v4
17	g.35576167A>T	CA399137568	PEX12	c.695T>A (p.Ile232Lys)
17	g.35576168T>A	CA399137571	PEX12	c.694A>T (p.Ile232Leu)
17	g.35576168T>C	CA399137572	PEX12	c.694A>G (p.Ile232Val)	gnomAD v4
17	g.35576168T>G	CA399137573	PEX12	c.694A>C (p.Ile232Leu)
17	g.35576169C>A	CA399137574	PEX12	c.693G>T (p.Lys231Asn)	gnomAD v4
17	g.35576169C=	CA2257586891	PEX12	c.693G= (p.Lys231=)
17	g.35576169C>G	CA399137575	PEX12	c.693G>C (p.Lys231Asn)
17	g.35576169C>T	CA290068487	PEX12	c.693G>A (p.Lys231=)	ClinVar dbSNP gnomAD v4
17	g.35576170T>A	CA399137576	PEX12	c.692A>T (p.Lys231Met)
17	g.35576170T>C	CA399137577	PEX12	c.692A>G (p.Lys231Arg)
17	g.35576170T>G	CA399137578	PEX12	c.692A>C (p.Lys231Thr)
17	g.35576171T>A	CA119063	PEX12	c.691A>T (p.Lys231Ter)	ClinVar dbSNP
17	g.35576171T>C	CA399137579	PEX12	c.691A>G (p.Lys231Glu)
17	g.35576171T>G	CA399137580	PEX12	c.691A>C (p.Lys231Gln)
17	g.35576171T=	CA2257586897	PEX12	c.691A= (p.Lys231=)
17	g.35576171_35576175del	CA913002653	PEX12	c.687_691del (p.Ser229ArgfsTer?)
17	g.35576171_35576175delinsTCTCA	CA2257586898	PEX12	c.687_691delinsTGAGA (p.Ser229=)
17	g.35576172C>A	CA399137581	PEX12	c.690G>T (p.Glu230Asp)
17	g.35576172C>G	CA399137582	PEX12	c.690G>C (p.Glu230Asp)
17	g.35576172C>T	CA499795134	PEX12	c.690G>A (p.Glu230=)
17	g.35576174_35576177del	CA658824204	PEX12	c.687_690del (p.Ser229ArgfsTer3)	ClinVar dbSNP
17	g.35576173T>A	CA399137584	PEX12	c.689A>T (p.Glu230Val)
17	g.35576173T>C	CA399137585	PEX12	c.689A>G (p.Glu230Gly)
17	g.35576173T>G	CA399137583	PEX12	c.689A>C (p.Glu230Ala)
17	g.35576174C>A	CA399137586	PEX12	c.688G>T (p.Glu230Ter)
17	g.35576174C=	CA2257586905	PEX12	c.688G= (p.Glu230=)
17	g.35576174C>G	CA399137587	PEX12	c.688G>C (p.Glu230Gln)
17	g.35576174C>T	CA290068489	PEX12	c.688G>A (p.Glu230Lys)	ClinVar dbSNP COSMIC
17	g.35576174_35576178delinsCACTA	CA2257586908	PEX12	c.684_688delinsTAGTG (p.Val228=)
17	g.35576175A>C	CA399137588	PEX12	c.687T>G (p.Ser229Arg)	gnomAD v4
17	g.35576175A>G	CA499795135	PEX12	c.687T>C (p.Ser229=)	gnomAD v4
17	g.35576175A>T	CA399137589	PEX12	c.687T>A (p.Ser229Arg)	gnomAD v4
17	g.35576177_35576180del	CA8504856	PEX12	c.684_687del (p.Ser229ArgfsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35576176C>A	CA399137590	PEX12	c.686G>T (p.Ser229Ile)
17	g.35576176C=	CA2257586916	PEX12	c.686G= (p.Ser229=)
17	g.35576176C>G	CA399137591	PEX12	c.686G>C (p.Ser229Thr)
17	g.35576176C>T	CA399137592	PEX12	c.686G>A (p.Ser229Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.35576177T>A	CA399137595	PEX12	c.685A>T (p.Ser229Cys)
17	g.35576177T>C	CA399137594	PEX12	c.685A>G (p.Ser229Gly)
17	g.35576177T>G	CA399137593	PEX12	c.685A>C (p.Ser229Arg)
17	g.35576178A>C	CA499795136	PEX12	c.684T>G (p.Val228=)
17	g.35576178A>G	CA499795137	PEX12	c.684T>C (p.Val228=)	ClinVar gnomAD v4
17	g.35576178A>T	CA499795138	PEX12	c.684T>A (p.Val228=)
17	g.35576179A>C	CA399137596	PEX12	c.683T>G (p.Val228Gly)
17	g.35576179A>G	CA399137597	PEX12	c.683T>C (p.Val228Ala)
17	g.35576179A>T	CA399137598	PEX12	c.683T>A (p.Val228Asp)

Number of alleles fetched