Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.18078537_18078556del	CA2395402821	PEX26	c.161_180del (p.Ala54GlyfsTer?)	dbSNP
22	g.18078556G>A	CA513184533	PEX26	c.180G>A (p.Arg60=)	ClinVar
22	g.18078556G>C	CA513184535	PEX26	c.180G>C (p.Arg60=)
22	g.18078556G>T	CA513184531	PEX26	c.180G>T (p.Arg60=)	gnomAD v4
22	g.18078557G>A	CA410265143	PEX26	c.181G>A (p.Ala61Thr)	gnomAD v4
22	g.18078557G>C	CA410265145	PEX26	c.181G>C (p.Ala61Pro)
22	g.18078557G=	CA2395402832	PEX26	c.181G= (p.Ala61=)
22	g.18078557G>T	CA410265149	PEX26	c.181G>T (p.Ala61Ser)	dbSNP gnomAD v2 gnomAD v4
22	g.18078558C>A	CA410265160	PEX26	c.182C>A (p.Ala61Asp)	gnomAD v4
22	g.18078558C>G	CA410265157	PEX26	c.182C>G (p.Ala61Gly)
22	g.18078558C>T	CA410265153	PEX26	c.182C>T (p.Ala61Val)	gnomAD v4
22	g.18078559C>A	CA513184545	PEX26	c.183C>A (p.Ala61=)	gnomAD v4
22	g.18078559C>G	CA513184546	PEX26	c.183C>G (p.Ala61=)	gnomAD v4
22	g.18078559C>T	CA513184548	PEX26	c.183C>T (p.Ala61=)	ClinVar
22	g.18078559_18078584delinsCTGGCAGAGTCTGGCCAACCACGCCG	CA2395402833	PEX26	c.183_208delinsCTGGCAGAGTCTGGCCAACCACGCCG (p.Ala61=)
22	g.18078560T>A	CA410265163	PEX26	c.184T>A (p.Trp62Arg)	gnomAD v4
22	g.18078560T>C	CA410265167	PEX26	c.184T>C (p.Trp62Arg)	gnomAD v4
22	g.18078560T>G	CA410265169	PEX26	c.184T>G (p.Trp62Gly)
22	g.18078568_18078592del	CA321284536	PEX26	c.192_216del (p.Ser64ArgfsTer10)	ClinVar dbSNP
22	g.18078561G>A	CA410265173	PEX26	c.185G>A (p.Trp62Ter)	ClinVar dbSNP gnomAD v4
22	g.18078561G>C	CA410265180	PEX26	c.185G>C (p.Trp62Ser)
22	g.18078561G=	CA2395402834	PEX26	c.185G= (p.Trp62=)
22	g.18078561G>T	CA410265183	PEX26	c.185G>T (p.Trp62Leu)	gnomAD v4
22	g.18078562G>A	CA410265188	PEX26	c.186G>A (p.Trp62Ter)	dbSNP gnomAD v4
22	g.18078562G>C	CA410265191	PEX26	c.186G>C (p.Trp62Cys)
22	g.18078562G=	CA2395402835	PEX26	c.186G= (p.Trp62=)
22	g.18078562G>T	CA410265195	PEX26	c.186G>T (p.Trp62Cys)	gnomAD v4
22	g.18078563C>A	CA410265198	PEX26	c.187C>A (p.Gln63Lys)	dbSNP gnomAD v2 gnomAD v4
22	g.18078563C=	CA2395402836	PEX26	c.187C= (p.Gln63=)
22	g.18078563C>G	CA10093241	PEX26	c.187C>G (p.Gln63Glu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078563C>T	CA410265203	PEX26	c.187C>T (p.Gln63Ter)	gnomAD v4
22	g.18078564A=	CA2395402837	PEX26	c.188A= (p.Gln63=)
22	g.18078564A>C	CA410265210	PEX26	c.188A>C (p.Gln63Pro)
22	g.18078564A>G	CA410265208	PEX26	c.188A>G (p.Gln63Arg)	dbSNP gnomAD v4
22	g.18078564A>T	CA410265205	PEX26	c.188A>T (p.Gln63Leu)
22	g.18078566_18078567del	CA2655184179	PEX26	c.190_191del (p.Leu65GlyfsTer?)	ClinVar gnomAD v4
22	g.18078565G>A	CA513184566	PEX26	c.189G>A (p.Gln63=)	ClinVar gnomAD v4
22	g.18078565G>C	CA410265213	PEX26	c.189G>C (p.Gln63His)	dbSNP
22	g.18078565G=	CA2395402838	PEX26	c.189G= (p.Gln63=)
22	g.18078565G>T	CA410265214	PEX26	c.189G>T (p.Gln63His)	gnomAD v4
22	g.18078566A>C	CA410265217	PEX26	c.190A>C (p.Ser64Arg)
22	g.18078566A>G	CA410265219	PEX26	c.190A>G (p.Ser64Gly)
22	g.18078566A>T	CA410265220	PEX26	c.190A>T (p.Ser64Cys)
22	g.18078567G>A	CA410265223	PEX26	c.191G>A (p.Ser64Asn)
22	g.18078567G>C	CA410265225	PEX26	c.191G>C (p.Ser64Thr)	gnomAD v4
22	g.18078567G>T	CA410265226	PEX26	c.191G>T (p.Ser64Ile)	gnomAD v4
22	g.18078568T>A	CA321284542	PEX26	c.192T>A (p.Ser64Arg)	dbSNP
22	g.18078568T>C	CA513184579	PEX26	c.192T>C (p.Ser64=)	gnomAD v4
22	g.18078568T>G	CA410265230	PEX26	c.192T>G (p.Ser64Arg)
22	g.18078568T=	CA2395402839	PEX26	c.192T= (p.Ser64=)
22	g.18078569C>A	CA410265232	PEX26	c.193C>A (p.Leu65Met)
22	g.18078569C>G	CA410265234	PEX26	c.193C>G (p.Leu65Val)
22	g.18078569C>T	CA513184584	PEX26	c.193C>T (p.Leu65=)
22	g.18078570T>A	CA410265236	PEX26	c.194T>A (p.Leu65Gln)
22	g.18078570T>C	CA410265239	PEX26	c.194T>C (p.Leu65Pro)
22	g.18078570T>G	CA410265241	PEX26	c.194T>G (p.Leu65Arg)
22	g.18078571G>A	CA321284545	PEX26	c.195G>A (p.Leu65=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078571G>C	CA513184593	PEX26	c.195G>C (p.Leu65=)
22	g.18078571G=	CA2395402840	PEX26	c.195G= (p.Leu65=)
22	g.18078571G>T	CA513184591	PEX26	c.195G>T (p.Leu65=)	gnomAD v4
22	g.18078572G>A	CA410265244	PEX26	c.196G>A (p.Ala66Thr)	gnomAD v4
22	g.18078572G>C	CA410265248	PEX26	c.196G>C (p.Ala66Pro)
22	g.18078572G>T	CA410265246	PEX26	c.196G>T (p.Ala66Ser)	gnomAD v4
22	g.18078573C>A	CA410265251	PEX26	c.197C>A (p.Ala66Asp)	gnomAD v4
22	g.18078573C=	CA2395402841	PEX26	c.197C= (p.Ala66=)
22	g.18078573C>G	CA410265253	PEX26	c.197C>G (p.Ala66Gly)
22	g.18078573C>T	CA410265255	PEX26	c.197C>T (p.Ala66Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078576_18078579dup	CA2655184201	PEX26	c.200_203dup (p.His68GlnfsTer?)	gnomAD v4
22	g.18078574C>A	CA513184603	PEX26	c.198C>A (p.Ala66=)	gnomAD v4
22	g.18078574C=	CA2395402842	PEX26	c.198C= (p.Ala66=)
22	g.18078574C>G	CA513184605	PEX26	c.198C>G (p.Ala66=)
22	g.18078574C>T	CA10093242	PEX26	c.198C>T (p.Ala66=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078575A>C	CA410265259	PEX26	c.199A>C (p.Asn67His)
22	g.18078575A>G	CA410265260	PEX26	c.199A>G (p.Asn67Asp)	gnomAD v4
22	g.18078575A>T	CA410265263	PEX26	c.199A>T (p.Asn67Tyr)
22	g.18078576del	CA2655184210	PEX26	c.200del (p.Asn67ThrfsTer15)	gnomAD v4
22	g.18078576A=	CA2395402843	PEX26	c.200A= (p.Asn67=)
22	g.18078576A>C	CA410265266	PEX26	c.200A>C (p.Asn67Thr)
22	g.18078576A>G	CA10093243	PEX26	c.200A>G (p.Asn67Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078576A>T	CA410265269	PEX26	c.200A>T (p.Asn67Ile)
22	g.18078577C>A	CA410265271	PEX26	c.201C>A (p.Asn67Lys)	gnomAD v4
22	g.18078577C=	CA2395402844	PEX26	c.201C= (p.Asn67=)
22	g.18078577C>G	CA410265273	PEX26	c.201C>G (p.Asn67Lys)	gnomAD v4
22	g.18078577C>T	CA513184618	PEX26	c.201C>T (p.Asn67=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078578C>A	CA410265275	PEX26	c.202C>A (p.His68Asn)	gnomAD v4
22	g.18078578C>G	CA410265277	PEX26	c.202C>G (p.His68Asp)
22	g.18078578C>T	CA410265276	PEX26	c.202C>T (p.His68Tyr)	dbSNP gnomAD v4
22	g.18078579A>C	CA410265279	PEX26	c.203A>C (p.His68Pro)
22	g.18078579A>G	CA410265280	PEX26	c.203A>G (p.His68Arg)	gnomAD v4
22	g.18078579A>T	CA410265282	PEX26	c.203A>T (p.His68Leu)
22	g.18078580C>A	CA410265285	PEX26	c.204C>A (p.His68Gln)	gnomAD v4
22	g.18078580C>G	CA410265287	PEX26	c.204C>G (p.His68Gln)
22	g.18078580C>T	CA513184621	PEX26	c.204C>T (p.His68=)	ClinVar gnomAD v4
22	g.18078581G>A	CA10093244	PEX26	c.205G>A (p.Ala69Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22	g.18078581G>C	CA410265290	PEX26	c.205G>C (p.Ala69Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078581G=	CA2395402845	PEX26	c.205G= (p.Ala69=)
22	g.18078581G>T	CA410265291	PEX26	c.205G>T (p.Ala69Ser)	gnomAD v4
22	g.18078582C>A	CA410265294	PEX26	c.206C>A (p.Ala69Asp)	gnomAD v4
22	g.18078582C=	CA2395402846	PEX26	c.206C= (p.Ala69=)
22	g.18078582C>G	CA410265296	PEX26	c.206C>G (p.Ala69Gly)
22	g.18078582C>T	CA410265298	PEX26	c.206C>T (p.Ala69Val)	dbSNP gnomAD v2 gnomAD v4
22	g.18078583C>A	CA513184622	PEX26	c.207C>A (p.Ala69=)	dbSNP gnomAD v4
22	g.18078583C=	CA2395402847	PEX26	c.207C= (p.Ala69=)
22	g.18078583C>G	CA513184624	PEX26	c.207C>G (p.Ala69=)	gnomAD v4
22	g.18078583C>T	CA10093245	PEX26	c.207C>T (p.Ala69=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078584G>A	CA410265304	PEX26	c.208G>A (p.Val70Met)	gnomAD v4
22	g.18078584G>C	CA410265302	PEX26	c.208G>C (p.Val70Leu)
22	g.18078584G=	CA2395402848	PEX26	c.208G= (p.Val70=)
22	g.18078584G>T	CA10093246	PEX26	c.208G>T (p.Val70Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078585T>A	CA410265305	PEX26	c.209T>A (p.Val70Glu)
22	g.18078585T>C	CA410265307	PEX26	c.209T>C (p.Val70Ala)	gnomAD v4
22	g.18078585T>G	CA410265309	PEX26	c.209T>G (p.Val70Gly)
22	g.18078586G>A	CA513184625	PEX26	c.210G>A (p.Val70=)	gnomAD v4
22	g.18078586G>C	CA513184626	PEX26	c.210G>C (p.Val70=)
22	g.18078586G>T	CA513184627	PEX26	c.210G>T (p.Val70=)	gnomAD v4
22	g.18078587dup	CA2831039145	PEX26	c.211dup (p.Ala71GlyfsTer?)
22	g.18078587G>A	CA410265311	PEX26	c.211G>A (p.Ala71Thr)	gnomAD v4
22	g.18078587G>C	CA410265313	PEX26	c.211G>C (p.Ala71Pro)
22	g.18078587G=	CA2395402849	PEX26	c.211G= (p.Ala71=)
22	g.18078587G>T	CA410265315	PEX26	c.211G>T (p.Ala71Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078588C>A	CA410265318	PEX26	c.212C>A (p.Ala71Glu)	gnomAD v4
22	g.18078588C=	CA2395402850	PEX26	c.212C= (p.Ala71=)
22	g.18078588C>G	CA410265320	PEX26	c.212C>G (p.Ala71Gly)	dbSNP
22	g.18078588C>T	CA410265322	PEX26	c.212C>T (p.Ala71Val)	gnomAD v4
22	g.18078589A>C	CA513184628	PEX26	c.213A>C (p.Ala71=)
22	g.18078589A>G	CA513184629	PEX26	c.213A>G (p.Ala71=)	gnomAD v4
22	g.18078589A>T	CA513184631	PEX26	c.213A>T (p.Ala71=)	gnomAD v4
22	g.18078590G>A	CA410265324	PEX26	c.214G>A (p.Glu72Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078590G>C	CA10093247	PEX26	c.214G>C (p.Glu72Gln)	dbSNP ExAC gnomAD v4
22	g.18078590G=	CA2395402851	PEX26	c.214G= (p.Glu72=)
22	g.18078590G>T	CA410265327	PEX26	c.214G>T (p.Glu72Ter)	gnomAD v4
22	g.18078591A>C	CA410265330	PEX26	c.215A>C (p.Glu72Ala)
22	g.18078591A>G	CA410265334	PEX26	c.215A>G (p.Glu72Gly)	gnomAD v4
22	g.18078591A>T	CA410265332	PEX26	c.215A>T (p.Glu72Val)	gnomAD v4
22	g.18078592G>A	CA513184635	PEX26	c.216G>A (p.Glu72=)
22	g.18078592G>C	CA410265337	PEX26	c.216G>C (p.Glu72Asp)
22	g.18078592G>T	CA410265339	PEX26	c.216G>T (p.Glu72Asp)	gnomAD v4
22	g.18078593G>A	CA410265342	PEX26	c.217G>A (p.Glu73Lys)	gnomAD v4
22	g.18078593G>C	CA10093248	PEX26	c.217G>C (p.Glu73Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.18078593G=	CA2395402852	PEX26	c.217G= (p.Glu73=)
22	g.18078593G>T	CA410265344	PEX26	c.217G>T (p.Glu73Ter)	gnomAD v4
22	g.18078594A=	CA2395402853	PEX26	c.218A= (p.Glu73=)
22	g.18078594A>C	CA410265349	PEX26	c.218A>C (p.Glu73Ala)
22	g.18078594A>G	CA410265350	PEX26	c.218A>G (p.Glu73Gly)
22	g.18078594A>T	CA10093249	PEX26	c.218A>T (p.Glu73Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.18078595A>C	CA410265354	PEX26	c.219A>C (p.Glu73Asp)
22	g.18078595A>G	CA513184638	PEX26	c.219A>G (p.Glu73=)
22	g.18078595A>T	CA410265356	PEX26	c.219A>T (p.Glu73Asp)
22	g.18078596C>A	CA410265362	PEX26	c.220C>A (p.Pro74Thr)	gnomAD v4
22	g.18078596C=	CA2395402854	PEX26	c.220C= (p.Pro74=)
22	g.18078596C>G	CA410265361	PEX26	c.220C>G (p.Pro74Ala)	dbSNP
22	g.18078596C>T	CA410265359	PEX26	c.220C>T (p.Pro74Ser)	gnomAD v4
22	g.18078597C>A	CA410265366	PEX26	c.221C>A (p.Pro74His)	gnomAD v4
22	g.18078597C=	CA2395402855	PEX26	c.221C= (p.Pro74=)
22	g.18078597C>G	CA410265367	PEX26	c.221C>G (p.Pro74Arg)
22	g.18078597C>T	CA410265370	PEX26	c.221C>T (p.Pro74Leu)	dbSNP
22	g.18078599_18079914del	CA913203502	PEX26	c.223_271del
22	g.18078598C>A	CA513184642	PEX26	c.222C>A (p.Pro74=)	gnomAD v4 COSMIC
22	g.18078598C=	CA2395402856	PEX26	c.222C= (p.Pro74=)
22	g.18078598C>G	CA513184643	PEX26	c.222C>G (p.Pro74=)	dbSNP gnomAD v3 gnomAD v4
22	g.18078598C>T	CA513184644	PEX26	c.222C>T (p.Pro74=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078599G>A	CA410265373	PEX26	c.223G>A (p.Ala75Thr)	gnomAD v4
22	g.18078599G>C	CA410265375	PEX26	c.223G>C (p.Ala75Pro)
22	g.18078599G>T	CA410265377	PEX26	c.223G>T (p.Ala75Ser)	gnomAD v4
22	g.18078600C>A	CA410265382	PEX26	c.224C>A (p.Ala75Glu)	dbSNP gnomAD v3 gnomAD v4
22	g.18078600C=	CA2395402857	PEX26	c.224C= (p.Ala75=)
22	g.18078600C>G	CA410265380	PEX26	c.224C>G (p.Ala75Gly)	ClinVar
22	g.18078600C>T	CA410265381	PEX26	c.224C>T (p.Ala75Val)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
22	g.18078601G>A	CA513184648	PEX26	c.225G>A (p.Ala75=)	gnomAD v4
22	g.18078601G>C	CA513184649	PEX26	c.225G>C (p.Ala75=)
22	g.18078601G>T	CA513184650	PEX26	c.225G>T (p.Ala75=)	ClinVar gnomAD v4
22	g.18078602G>A	CA410265385	PEX26	c.226G>A (p.Gly76Ser)	gnomAD v4
22	g.18078602G>C	CA410265387	PEX26	c.226G>C (p.Gly76Arg)
22	g.18078602G>T	CA410265389	PEX26	c.226G>T (p.Gly76Cys)	gnomAD v4
22	g.18078603G>A	CA10093250	PEX26	c.227G>A (p.Gly76Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.18078603G>C	CA410265391	PEX26	c.227G>C (p.Gly76Ala)
22	g.18078603G=	CA2395402858	PEX26	c.227G= (p.Gly76=)
22	g.18078603G>T	CA410265392	PEX26	c.227G>T (p.Gly76Val)	ClinVar gnomAD v4
22	g.18078604C>A	CA513184655	PEX26	c.228C>A (p.Gly76=)	gnomAD v4
22	g.18078604C=	CA2395402859	PEX26	c.228C= (p.Gly76=)
22	g.18078604C>G	CA513184654	PEX26	c.228C>G (p.Gly76=)	gnomAD v4
22	g.18078604C>T	CA236171	PEX26	c.228C>T (p.Gly76=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078605A=	CA2395402860	PEX26	c.229A= (p.Thr77=)
22	g.18078605A>C	CA410265397	PEX26	c.229A>C (p.Thr77Pro)	dbSNP
22	g.18078605A>G	CA410265399	PEX26	c.229A>G (p.Thr77Ala)
22	g.18078605A>T	CA410265401	PEX26	c.229A>T (p.Thr77Ser)
22	g.18078606C>A	CA410265404	PEX26	c.230C>A (p.Thr77Asn)
22	g.18078606C>G	CA410265406	PEX26	c.230C>G (p.Thr77Ser)
22	g.18078606C>T	CA410265407	PEX26	c.230C>T (p.Thr77Ile)
22	g.18078607G>A	CA410265410	PEX26	c.230+1G>A (n.230+1G>A)	ClinVar gnomAD v4
22	g.18078607G>C	CA410265414	PEX26	c.230+1G>C (n.230+1G>C)	dbSNP gnomAD v4 COSMIC
22	g.18078607G=	CA2395402861	PEX26	c.230+1G= (n.230+1G=)
22	g.18078607G>T	CA115377	PEX26	c.230+1G>T (n.230+1G>T)	ClinVar dbSNP gnomAD v4
22	g.18078608T>A	CA410265417	PEX26	c.230+2T>A (n.230+2T>A)
22	g.18078608T>C	CA410265419	PEX26	c.230+2T>C (n.230+2T>C)	gnomAD v4
22	g.18078608T>G	CA410265421	PEX26	c.230+2T>G (n.230+2T>G)
22	g.18078609A=	CA2395402862	PEX26	c.230+3A= (n.230+3A=)
22	g.18078609A>C	CA513184658	PEX26	c.230+3A>C (n.230+3A>C)
22	g.18078609A>G	CA10093251	PEX26	c.230+3A>G (n.230+3A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078609A>T	CA513184659	PEX26	c.230+3A>T (n.230+3A>T)
22	g.18078611_18078631del	CA2577641363	PEX26	c.230+5_230+25del (n.230+5_230+25del)
22	g.18078610C>A	CA513184661	PEX26	c.230+4C>A (n.230+4C>A)	gnomAD v4
22	g.18078610C=	CA2395402863	PEX26	c.230+4C= (n.230+4C=)
22	g.18078610C>G	CA513184663	PEX26	c.230+4C>G (n.230+4C>G)	dbSNP gnomAD v4
22	g.18078610C>T	CA513184662	PEX26	c.230+4C>T (n.230+4C>T)	gnomAD v4
22	g.18078611G>A	CA513184664	PEX26	c.230+5G>A (n.230+5G>A)	gnomAD v4
22	g.18078611G>C	CA513184665	PEX26	c.230+5G>C (n.230+5G>C)
22	g.18078611G>T	CA513184666	PEX26	c.230+5G>T (n.230+5G>T)	gnomAD v4
22	g.18078612T>A	CA513184667	PEX26	c.230+6T>A (n.230+6T>A)	ClinVar dbSNP
22	g.18078612T>C	CA513184668	PEX26	c.230+6T>C (n.230+6T>C)
22	g.18078612T>G	CA513184669	PEX26	c.230+6T>G (n.230+6T>G)
22	g.18078613G>A	CA513184670	PEX26	c.230+7G>A (n.230+7G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.18078613G>C	CA513184671	PEX26	c.230+7G>C (n.230+7G>C)
22	g.18078613G=	CA2395402864	PEX26	c.230+7G= (n.230+7G=)
22	g.18078613G>T	CA513184673	PEX26	c.230+7G>T (n.230+7G>T)	gnomAD v4
22	g.18078614C>A	CA513184675	PEX26	c.230+8C>A (n.230+8C>A)	gnomAD v4
22	g.18078614C=	CA2395402865	PEX26	c.230+8C= (n.230+8C=)
22	g.18078614C>G	CA513184676	PEX26	c.230+8C>G (n.230+8C>G)
22	g.18078614C>T	CA10645084	PEX26	c.230+8C>T (n.230+8C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.18078615T>A	CA513184678	PEX26	c.230+9T>A (n.230+9T>A)
22	g.18078615T>C	CA513184680	PEX26	c.230+9T>C (n.230+9T>C)
22	g.18078615T>G	CA513184679	PEX26	c.230+9T>G (n.230+9T>G)
22	g.18078616G>A	CA321284617	PEX26	c.230+10G>A (n.230+10G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078616G>C	CA513184681	PEX26	c.230+10G>C (n.230+10G>C)
22	g.18078616G=	CA2395402866	PEX26	c.230+10G= (n.230+10G=)
22	g.18078616G>T	CA513184682	PEX26	c.230+10G>T (n.230+10G>T)	gnomAD v4
22	g.18078617G>A	CA513184683	PEX26	c.230+11G>A (n.230+11G>A)	gnomAD v4
22	g.18078617G>C	CA513184684	PEX26	c.230+11G>C (n.230+11G>C)	gnomAD v4
22	g.18078617G=	CA2395402867	PEX26	c.230+11G= (n.230+11G=)
22	g.18078617G>T	CA513184685	PEX26	c.230+11G>T (n.230+11G>T)	dbSNP gnomAD v2 gnomAD v4
22	g.18078618G>A	CA513184686	PEX26	c.230+12G>A (n.230+12G>A)	dbSNP gnomAD v4
22	g.18078618G>C	CA513184687	PEX26	c.230+12G>C (n.230+12G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078618G=	CA2395402868	PEX26	c.230+12G= (n.230+12G=)
22	g.18078618G>T	CA513184688	PEX26	c.230+12G>T (n.230+12G>T)	gnomAD v4
22	g.18078619C>A	CA513184691	PEX26	c.230+13C>A (n.230+13C>A)	gnomAD v4
22	g.18078619C>G	CA513184690	PEX26	c.230+13C>G (n.230+13C>G)
22	g.18078619C>T	CA513184689	PEX26	c.230+13C>T (n.230+13C>T)	dbSNP gnomAD v4
22	g.18078620T>A	CA513184692	PEX26	c.230+14T>A (n.230+14T>A)
22	g.18078620T>C	CA513184693	PEX26	c.230+14T>C (n.230+14T>C)
22	g.18078620T>G	CA513184694	PEX26	c.230+14T>G (n.230+14T>G)
22	g.18078621C>A	CA513184695	PEX26	c.230+15C>A (n.230+15C>A)	gnomAD v4
22	g.18078621C>G	CA513184696	PEX26	c.230+15C>G (n.230+15C>G)
22	g.18078621C>T	CA513184697	PEX26	c.230+15C>T (n.230+15C>T)	ClinVar dbSNP gnomAD v4
22	g.18078622G>A	CA513184699	PEX26	c.230+16G>A (n.230+16G>A)	ClinVar gnomAD v4
22	g.18078622G>C	CA513184701	PEX26	c.230+16G>C (n.230+16G>C)
22	g.18078622G>T	CA513184702	PEX26	c.230+16G>T (n.230+16G>T)	gnomAD v4
22	g.18078623G>A	CA513184703	PEX26	c.230+17G>A (n.230+17G>A)	gnomAD v4
22	g.18078623G>C	CA513184704	PEX26	c.230+17G>C (n.230+17G>C)
22	g.18078623G>T	CA513184705	PEX26	c.230+17G>T (n.230+17G>T)	gnomAD v4
22	g.18078624A>C	CA513184708	PEX26	c.230+18A>C (n.230+18A>C)	gnomAD v4
22	g.18078624A>G	CA513184706	PEX26	c.230+18A>G (n.230+18A>G)
22	g.18078624A>T	CA513184707	PEX26	c.230+18A>T (n.230+18A>T)
22	g.18078625A>C	CA513184710	PEX26	c.230+19A>C (n.230+19A>C)
22	g.18078625A>G	CA513184712	PEX26	c.230+19A>G (n.230+19A>G)
22	g.18078625A>T	CA513184714	PEX26	c.230+19A>T (n.230+19A>T)
22	g.18078626A=	CA2395402869	PEX26	c.230+20A= (n.230+20A=)
22	g.18078626A>C	CA513184715	PEX26	c.230+20A>C (n.230+20A>C)
22	g.18078626A>G	CA10093252	PEX26	c.230+20A>G (n.230+20A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.18078626A>T	CA513184716	PEX26	c.230+20A>T (n.230+20A>T)
22	g.18078627T>A	CA513184717	PEX26	c.230+21T>A (n.230+21T>A)
22	g.18078627T>C	CA513184718	PEX26	c.230+21T>C (n.230+21T>C)
22	g.18078627T>G	CA513184719	PEX26	c.230+21T>G (n.230+21T>G)
22	g.18078628G>A	CA513184721	PEX26	c.230+22G>A (n.230+22G>A)	gnomAD v4
22	g.18078628G>C	CA513184723	PEX26	c.230+22G>C (n.230+22G>C)
22	g.18078628G>T	CA513184724	PEX26	c.230+22G>T (n.230+22G>T)	gnomAD v4
22	g.18078629A>C	CA513184726	PEX26	c.230+23A>C (n.230+23A>C)
22	g.18078629A>G	CA513184727	PEX26	c.230+23A>G (n.230+23A>G)	gnomAD v4
22	g.18078629A>T	CA513184725	PEX26	c.230+23A>T (n.230+23A>T)
22	g.18078630A>C	CA513184729	PEX26	c.230+24A>C (n.230+24A>C)
22	g.18078630A>G	CA513184728	PEX26	c.230+24A>G (n.230+24A>G)	gnomAD v4
22	g.18078630A>T	CA513184730	PEX26	c.230+24A>T (n.230+24A>T)
22	g.18078630_18078631delinsAC	CA2395402870	PEX26	c.230+24_230+25delinsAC (n.230+24_230+25delinsAC)
22	g.18078631C>A	CA513184731	PEX26	c.230+25C>A (n.230+25C>A)	gnomAD v4
22	g.18078631C>G	CA513184732	PEX26	c.230+25C>G (n.230+25C>G)
22	g.18078631C>T	CA513184733	PEX26	c.230+25C>T (n.230+25C>T)	gnomAD v4
22	g.18078632del	CA2395402871	PEX26	c.230+26del (n.230+26del)	dbSNP gnomAD v3 gnomAD v4
22	g.18078632C>A	CA513184734	PEX26	c.230+26C>A (n.230+26C>A)	gnomAD v4
22	g.18078632C>G	CA513184736	PEX26	c.230+26C>G (n.230+26C>G)	gnomAD v4
22	g.18078632C>T	CA513184737	PEX26	c.230+26C>T (n.230+26C>T)	gnomAD v4
22	g.18078633G>A	CA513184738	PEX26	c.230+27G>A (n.230+27G>A)	gnomAD v4
22	g.18078633G>C	CA513184739	PEX26	c.230+27G>C (n.230+27G>C)
22	g.18078633G>T	CA513184740	PEX26	c.230+27G>T (n.230+27G>T)	gnomAD v4
22	g.18078634A=	CA2395402872	PEX26	c.230+28A= (n.230+28A=)
22	g.18078634A>C	CA321284619	PEX26	c.230+28A>C (n.230+28A>C)	dbSNP
22	g.18078634A>G	CA10093253	PEX26	c.230+28A>G (n.230+28A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.18078634A>T	CA513184742	PEX26	c.230+28A>T (n.230+28A>T)
22	g.18078635T>A	CA513184746	PEX26	c.230+29T>A (n.230+29T>A)
22	g.18078635T>C	CA513184745	PEX26	c.230+29T>C (n.230+29T>C)	gnomAD v4
22	g.18078635T>G	CA513184744	PEX26	c.230+29T>G (n.230+29T>G)
22	g.18078637del	CA2655184402	PEX26	c.230+31del (n.230+31del)	gnomAD v4
22	g.18078636T>A	CA513184747	PEX26	c.230+30T>A (n.230+30T>A)
22	g.18078636T>C	CA513184748	PEX26	c.230+30T>C (n.230+30T>C)	dbSNP
22	g.18078636T>G	CA513184749	PEX26	c.230+30T>G (n.230+30T>G)
22	g.18078636T=	CA2395402873	PEX26	c.230+30T= (n.230+30T=)
22	g.18078637T>A	CA513184750	PEX26	c.230+31T>A (n.230+31T>A)
22	g.18078637T>C	CA513184751	PEX26	c.230+31T>C (n.230+31T>C)
22	g.18078637T>G	CA513184752	PEX26	c.230+31T>G (n.230+31T>G)
22	g.18078638C>A	CA513184753	PEX26	c.230+32C>A (n.230+32C>A)	gnomAD v4
22	g.18078638C>G	CA513184755	PEX26	c.230+32C>G (n.230+32C>G)
22	g.18078638C>T	CA513184757	PEX26	c.230+32C>T (n.230+32C>T)	gnomAD v4
22	g.18078639C>A	CA513184758	PEX26	c.230+33C>A (n.230+33C>A)	gnomAD v4
22	g.18078639C=	CA2395402874	PEX26	c.230+33C= (n.230+33C=)
22	g.18078639C>G	CA513184759	PEX26	c.230+33C>G (n.230+33C>G)
22	g.18078639C>T	CA513184760	PEX26	c.230+33C>T (n.230+33C>T)	dbSNP gnomAD v2 gnomAD v4
22	g.18078640G>A	CA513184763	PEX26	c.230+34G>A (n.230+34G>A)	dbSNP gnomAD v3 gnomAD v4
22	g.18078640G>C	CA513184762	PEX26	c.230+34G>C (n.230+34G>C)
22	g.18078640G=	CA2395402875	PEX26	c.230+34G= (n.230+34G=)
22	g.18078640G>T	CA513184761	PEX26	c.230+34G>T (n.230+34G>T)	gnomAD v4
22	g.18078641G>A	CA513184764	PEX26	c.230+35G>A (n.230+35G>A)	dbSNP gnomAD v2 gnomAD v4
22	g.18078641G>C	CA513184765	PEX26	c.230+35G>C (n.230+35G>C)
22	g.18078641G=	CA2395402876	PEX26	c.230+35G= (n.230+35G=)
22	g.18078641G>T	CA513184767	PEX26	c.230+35G>T (n.230+35G>T)	gnomAD v4
22	g.18078642G>A	CA513184770	PEX26	c.230+36G>A (n.230+36G>A)	gnomAD v4
22	g.18078642G>C	CA513184771	PEX26	c.230+36G>C (n.230+36G>C)
22	g.18078642G=	CA2395402877	PEX26	c.230+36G= (n.230+36G=)
22	g.18078642G>T	CA513184772	PEX26	c.230+36G>T (n.230+36G>T)	dbSNP gnomAD v3 gnomAD v4
22	g.18078643C>A	CA513184773	PEX26	c.230+37C>A (n.230+37C>A)	gnomAD v4
22	g.18078643C=	CA2395402878	PEX26	c.230+37C= (n.230+37C=)
22	g.18078643C>G	CA513184774	PEX26	c.230+37C>G (n.230+37C>G)
22	g.18078643C>T	CA321284635	PEX26	c.230+37C>T (n.230+37C>T)	dbSNP gnomAD v3 gnomAD v4
22	g.18078644G>A	CA513184775	PEX26	c.230+38G>A (n.230+38G>A)	gnomAD v4
22	g.18078644G>C	CA513184776	PEX26	c.230+38G>C (n.230+38G>C)	gnomAD v4
22	g.18078644G>T	CA513184777	PEX26	c.230+38G>T (n.230+38G>T)	gnomAD v4
22	g.18078645C>A	CA513184781	PEX26	c.230+39C>A (n.230+39C>A)	gnomAD v4
22	g.18078645C=	CA2395402879	PEX26	c.230+39C= (n.230+39C=)
22	g.18078645C>G	CA513184780	PEX26	c.230+39C>G (n.230+39C>G)	dbSNP gnomAD v4
22	g.18078645C>T	CA513184778	PEX26	c.230+39C>T (n.230+39C>T)
22	g.18078646T>A	CA513184782	PEX26	c.230+40T>A (n.230+40T>A)	gnomAD v4
22	g.18078646T>C	CA513184783	PEX26	c.230+40T>C (n.230+40T>C)	gnomAD v4
22	g.18078646T>G	CA513184784	PEX26	c.230+40T>G (n.230+40T>G)	COSMIC
22	g.18078647C>A	CA513184785	PEX26	c.230+41C>A (n.230+41C>A)	gnomAD v4
22	g.18078647C=	CA2395402880	PEX26	c.230+41C= (n.230+41C=)
22	g.18078647C>G	CA513184786	PEX26	c.230+41C>G (n.230+41C>G)	dbSNP gnomAD v2
22	g.18078647C>T	CA513184787	PEX26	c.230+41C>T (n.230+41C>T)	gnomAD v4
22	g.18078648T>A	CA513184789	PEX26	c.230+42T>A (n.230+42T>A)
22	g.18078648T>C	CA513184790	PEX26	c.230+42T>C (n.230+42T>C)	gnomAD v4
22	g.18078648T>G	CA513184791	PEX26	c.230+42T>G (n.230+42T>G)
22	g.18078649T>A	CA513184792	PEX26	c.230+43T>A (n.230+43T>A)
22	g.18078649T>C	CA513184793	PEX26	c.230+43T>C (n.230+43T>C)	gnomAD v4
22	g.18078649T>G	CA513184794	PEX26	c.230+43T>G (n.230+43T>G)
22	g.18078649_18078652delinsTGTG	CA2395402881	PEX26	c.230+43_230+46delinsTGTG (n.230+43_230+46delinsTGTG)
22	g.18078650G>A	CA513184797	PEX26	c.230+44G>A (n.230+44G>A)	gnomAD v4
22	g.18078650G>C	CA513184796	PEX26	c.230+44G>C (n.230+44G>C)	gnomAD v4
22	g.18078650G>T	CA513184795	PEX26	c.230+44G>T (n.230+44G>T)	gnomAD v4
22	g.18078654_18078656del	CA2395402882	PEX26	c.230+48_230+50del (n.230+48_230+50del)	dbSNP gnomAD v4
22	g.18078651T>A	CA513184798	PEX26	c.230+45T>A (n.230+45T>A)	gnomAD v4
22	g.18078651T>C	CA513184801	PEX26	c.230+45T>C (n.230+45T>C)	dbSNP gnomAD v2 gnomAD v4
22	g.18078651T>G	CA513184799	PEX26	c.230+45T>G (n.230+45T>G)	gnomAD v4
22	g.18078651T=	CA2395402883	PEX26	c.230+45T= (n.230+45T=)
22	g.18078652G>A	CA513184802	PEX26	c.230+46G>A (n.230+46G>A)
22	g.18078652G>C	CA513184803	PEX26	c.230+46G>C (n.230+46G>C)
22	g.18078652G>T	CA513184804	PEX26	c.230+46G>T (n.230+46G>T)	dbSNP gnomAD v3 gnomAD v4
22	g.18078653G>A	CA513184805	PEX26	c.230+47G>A (n.230+47G>A)
22	g.18078653G>C	CA513184806	PEX26	c.230+47G>C (n.230+47G>C)
22	g.18078653G>T	CA513184807	PEX26	c.230+47G>T (n.230+47G>T)	gnomAD v4
22	g.18078654del	CA2655184464	PEX26	c.230+48del (n.230+48del)	gnomAD v4
22	g.18078654T>A	CA513184808	PEX26	c.230+48T>A (n.230+48T>A)	gnomAD v4
22	g.18078654T>C	CA513184809	PEX26	c.230+48T>C (n.230+48T>C)	dbSNP gnomAD v3 gnomAD v4
22	g.18078654T>G	CA513184811	PEX26	c.230+48T>G (n.230+48T>G)
22	g.18078654_18078655delinsTG	CA2395402884	PEX26	c.230+48_230+49delinsTG (n.230+48_230+49delinsTG)
22	g.18078655G>A	CA513184816	PEX26	c.230+49G>A (n.230+49G>A)	gnomAD v4
22	g.18078655G>C	CA513184815	PEX26	c.230+49G>C (n.230+49G>C)
22	g.18078655G>T	CA513184814	PEX26	c.230+49G>T (n.230+49G>T)	gnomAD v4
22	g.18078658del	CA10093254	PEX26	c.230+52del (n.230+52del)	dbSNP ExAC gnomAD v2
22	g.18078656G>A	CA513184817	PEX26	c.230+50G>A (n.230+50G>A)	gnomAD v4
22	g.18078656G>C	CA513184818	PEX26	c.230+50G>C (n.230+50G>C)
22	g.18078656G>T	CA513184819	PEX26	c.230+50G>T (n.230+50G>T)	gnomAD v4

Number of alleles fetched