Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.35577250G>A	CA499903379	PEX12	c.468C>T (p.Tyr156=)
17	g.35577250G>C	CA399138068	PEX12	c.468C>G (p.Tyr156Ter)
17	g.35577250G>T	CA399138069	PEX12	c.468C>A (p.Tyr156Ter)
17	g.35577251T>A	CA399138070	PEX12	c.467A>T (p.Tyr156Phe)
17	g.35577251T>C	CA399138071	PEX12	c.467A>G (p.Tyr156Cys)
17	g.35577251T>G	CA399138072	PEX12	c.467A>C (p.Tyr156Ser)
17	g.35577252A>C	CA399138073	PEX12	c.466T>G (p.Tyr156Asp)
17	g.35577252A>G	CA399138074	PEX12	c.466T>C (p.Tyr156His)
17	g.35577252A>T	CA399138075	PEX12	c.466T>A (p.Tyr156Asn)
17	g.35577253A=	CA2257587867	PEX12	c.465T= (p.Phe155=)
17	g.35577253A>C	CA399138076	PEX12	c.465T>G (p.Phe155Leu)	dbSNP gnomAD v2 gnomAD v4
17	g.35577253A>G	CA499903380	PEX12	c.465T>C (p.Phe155=)
17	g.35577253A>T	CA399138077	PEX12	c.465T>A (p.Phe155Leu)
17	g.35577254A>C	CA399138078	PEX12	c.464T>G (p.Phe155Cys)
17	g.35577254A>G	CA399138080	PEX12	c.464T>C (p.Phe155Ser)
17	g.35577254A>T	CA399138079	PEX12	c.464T>A (p.Phe155Tyr)
17	g.35577255A>C	CA399138081	PEX12	c.463T>G (p.Phe155Val)
17	g.35577255A>G	CA399138083	PEX12	c.463T>C (p.Phe155Leu)
17	g.35577255A>T	CA399138082	PEX12	c.463T>A (p.Phe155Ile)
17	g.35577256T>A	CA499903381	PEX12	c.462A>T (p.Arg154=)
17	g.35577256T>C	CA499903382	PEX12	c.462A>G (p.Arg154=)	ClinVar
17	g.35577256T>G	CA499903383	PEX12	c.462A>C (p.Arg154=)
17	g.35577257C>A	CA399138084	PEX12	c.461G>T (p.Arg154Leu)
17	g.35577257C=	CA2257587871	PEX12	c.461G= (p.Arg154=)
17	g.35577257C>G	CA8504903	PEX12	c.461G>C (p.Arg154Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577257C>T	CA8504904	PEX12	c.461G>A (p.Arg154Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.35577258G>A	CA399138085	PEX12	c.460C>T (p.Arg154Ter)	ClinVar dbSNP gnomAD v4
17	g.35577258G>C	CA399138086	PEX12	c.460C>G (p.Arg154Gly)
17	g.35577258G=	CA2257587877	PEX12	c.460C= (p.Arg154=)
17	g.35577258G>T	CA499903384	PEX12	c.460C>A (p.Arg154=)
17	g.35577259T>A	CA399138087	PEX12	c.459A>T (p.Lys153Asn)
17	g.35577259T>C	CA499903385	PEX12	c.459A>G (p.Lys153=)	gnomAD v4
17	g.35577259T>G	CA399138088	PEX12	c.459A>C (p.Lys153Asn)
17	g.35577261dup	CA2257587883	PEX12	c.459dup (p.Arg154ThrfsTer?)	dbSNP
17	g.35577261del	CA2580093590	PEX12	c.459del (p.Lys153AsnfsTer14)	ClinVar
17	g.35577260T>A	CA399138089	PEX12	c.458A>T (p.Lys153Ile)
17	g.35577260T>C	CA399138090	PEX12	c.458A>G (p.Lys153Arg)
17	g.35577260T>G	CA399138091	PEX12	c.458A>C (p.Lys153Thr)
17	g.35577261T>A	CA399138092	PEX12	c.457A>T (p.Lys153Ter)
17	g.35577261T>C	CA8504905	PEX12	c.457A>G (p.Lys153Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577261T>G	CA399138093	PEX12	c.457A>C (p.Lys153Gln)
17	g.35577261T=	CA2257587886	PEX12	c.457A= (p.Lys153=)
17	g.35577262C>A	CA399138094	PEX12	c.456G>T (p.Trp152Cys)	ClinVar dbSNP
17	g.35577262C=	CA2257587889	PEX12	c.456G= (p.Trp152=)
17	g.35577262C>G	CA399138096	PEX12	c.456G>C (p.Trp152Cys)
17	g.35577262C>T	CA399138095	PEX12	c.456G>A (p.Trp152Ter)	COSMIC
17	g.35577263C>A	CA399138097	PEX12	c.455G>T (p.Trp152Leu)
17	g.35577263C>G	CA399138098	PEX12	c.455G>C (p.Trp152Ser)
17	g.35577263C>T	CA399138099	PEX12	c.455G>A (p.Trp152Ter)	ClinVar
17	g.35577263_35577273delinsCAGCGGGAAGA	CA2257587894	PEX12	c.445_455delinsTCTTCCCGCTG (p.Ser149=)
17	g.35577264A>C	CA399138100	PEX12	c.454T>G (p.Trp152Gly)
17	g.35577264A>G	CA399138101	PEX12	c.454T>C (p.Trp152Arg)
17	g.35577264A>T	CA399138102	PEX12	c.454T>A (p.Trp152Arg)
17	g.35577266_35577275del	CA913190740	PEX12	c.445_454del (p.Ser149GlyfsTer15)	ClinVar dbSNP
17	g.35577265G>A	CA499903386	PEX12	c.453C>T (p.Arg151=)	gnomAD v4
17	g.35577265G>C	CA499903387	PEX12	c.453C>G (p.Arg151=)
17	g.35577265G>T	CA499903388	PEX12	c.453C>A (p.Arg151=)
17	g.35577266C>A	CA399138103	PEX12	c.452G>T (p.Arg151Leu)	gnomAD v4
17	g.35577266C=	CA2257587906	PEX12	c.452G= (p.Arg151=)
17	g.35577266C>G	CA399138104	PEX12	c.452G>C (p.Arg151Pro)
17	g.35577266C>T	CA8504906	PEX12	c.452G>A (p.Arg151His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577267G>A	CA145996	PEX12	c.451C>T (p.Arg151Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577267G>C	CA399138106	PEX12	c.451C>G (p.Arg151Gly)
17	g.35577267G=	CA2257587914	PEX12	c.451C= (p.Arg151=)
17	g.35577267G>T	CA399138105	PEX12	c.451C>A (p.Arg151Ser)
17	g.35577268G>A	CA499903389	PEX12	c.450C>T (p.Ser150=)
17	g.35577268G>C	CA499903390	PEX12	c.450C>G (p.Ser150=)
17	g.35577268G=	CA2257587919	PEX12	c.450C= (p.Ser150=)
17	g.35577268G>T	CA290069440	PEX12	c.450C>A (p.Ser150=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577269G>A	CA399138107	PEX12	c.449C>T (p.Ser150Phe)
17	g.35577269G>C	CA399138108	PEX12	c.449C>G (p.Ser150Cys)	gnomAD v4
17	g.35577269G>T	CA399138109	PEX12	c.449C>A (p.Ser150Tyr)
17	g.35577270A>C	CA399138110	PEX12	c.448T>G (p.Ser150Ala)
17	g.35577270A>G	CA399138111	PEX12	c.448T>C (p.Ser150Pro)
17	g.35577270A>T	CA399138112	PEX12	c.448T>A (p.Ser150Thr)
17	g.35577271A=	CA2257587923	PEX12	c.447T= (p.Ser149=)
17	g.35577271A>C	CA499903392	PEX12	c.447T>G (p.Ser149=)
17	g.35577271A>G	CA8504907	PEX12	c.447T>C (p.Ser149=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577271A>T	CA499903391	PEX12	c.447T>A (p.Ser149=)
17	g.35577272G>A	CA399138113	PEX12	c.446C>T (p.Ser149Phe)	dbSNP gnomAD v3 gnomAD v4
17	g.35577272G>C	CA399138114	PEX12	c.446C>G (p.Ser149Cys)
17	g.35577272G=	CA2257587925	PEX12	c.446C= (p.Ser149=)
17	g.35577272G>T	CA399138115	PEX12	c.446C>A (p.Ser149Tyr)
17	g.35577273A>C	CA399138116	PEX12	c.445T>G (p.Ser149Ala)
17	g.35577273A>G	CA399138117	PEX12	c.445T>C (p.Ser149Pro)
17	g.35577273A>T	CA399138118	PEX12	c.445T>A (p.Ser149Thr)
17	g.35577274A=	CA2257587928	PEX12	c.444T= (p.Pro148=)
17	g.35577274A>C	CA499903393	PEX12	c.444T>G (p.Pro148=)
17	g.35577274A>G	CA499903394	PEX12	c.444T>C (p.Pro148=)
17	g.35577274A>T	CA499903395	PEX12	c.444T>A (p.Pro148=)	dbSNP
17	g.35577275G>A	CA399138121	PEX12	c.443C>T (p.Pro148Leu)
17	g.35577275G>C	CA399138119	PEX12	c.443C>G (p.Pro148Arg)	COSMIC
17	g.35577275G=	CA2257587930	PEX12	c.443C= (p.Pro148=)
17	g.35577275G>T	CA399138120	PEX12	c.443C>A (p.Pro148His)	dbSNP gnomAD v3 gnomAD v4
17	g.35577276G>A	CA399138122	PEX12	c.442C>T (p.Pro148Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577276G>C	CA399138123	PEX12	c.442C>G (p.Pro148Ala)
17	g.35577276G=	CA2257587933	PEX12	c.442C= (p.Pro148=)
17	g.35577276G>T	CA399138124	PEX12	c.442C>A (p.Pro148Thr)	gnomAD v4
17	g.35577277G>A	CA499903396	PEX12	c.441C>T (p.Pro147=)	ClinVar dbSNP
17	g.35577277G>C	CA499903397	PEX12	c.441C>G (p.Pro147=)
17	g.35577277G=	CA2257587937	PEX12	c.441C= (p.Pro147=)
17	g.35577277G>T	CA499903398	PEX12	c.441C>A (p.Pro147=)
17	g.35577278G>A	CA399138125	PEX12	c.440C>T (p.Pro147Leu)	gnomAD v4
17	g.35577278G>C	CA399138126	PEX12	c.440C>G (p.Pro147Arg)
17	g.35577278G>T	CA399138127	PEX12	c.440C>A (p.Pro147His)
17	g.35577279G>A	CA399138128	PEX12	c.439C>T (p.Pro147Ser)	gnomAD v4
17	g.35577279G>C	CA399138129	PEX12	c.439C>G (p.Pro147Ala)
17	g.35577279G>T	CA399138130	PEX12	c.439C>A (p.Pro147Thr)
17	g.35577280A=	CA2257587940	PEX12	c.438T= (p.His146=)
17	g.35577280A>C	CA8504908	PEX12	c.438T>G (p.His146Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577280A>G	CA499903399	PEX12	c.438T>C (p.His146=)
17	g.35577280A>T	CA399138131	PEX12	c.438T>A (p.His146Gln)
17	g.35577281T>A	CA399138134	PEX12	c.437A>T (p.His146Leu)
17	g.35577281T>C	CA399138133	PEX12	c.437A>G (p.His146Arg)	ClinVar
17	g.35577281T>G	CA399138132	PEX12	c.437A>C (p.His146Pro)
17	g.35577282G>A	CA399138135	PEX12	c.436C>T (p.His146Tyr)	gnomAD v4
17	g.35577282G>C	CA399138137	PEX12	c.436C>G (p.His146Asp)
17	g.35577282G>T	CA399138136	PEX12	c.436C>A (p.His146Asn)
17	g.35577283A=	CA2257587944	PEX12	c.435T= (p.Ile145=)
17	g.35577283A>C	CA290069445	PEX12	c.435T>G (p.Ile145Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577283A>G	CA499903401	PEX12	c.435T>C (p.Ile145=)	dbSNP
17	g.35577283A>T	CA499903400	PEX12	c.435T>A (p.Ile145=)
17	g.35577284A>C	CA399138138	PEX12	c.434T>G (p.Ile145Ser)
17	g.35577284A>G	CA399138139	PEX12	c.434T>C (p.Ile145Thr)
17	g.35577284A>T	CA399138140	PEX12	c.434T>A (p.Ile145Asn)
17	g.35577285T>A	CA399138141	PEX12	c.433A>T (p.Ile145Phe)
17	g.35577285T>C	CA8504909	PEX12	c.433A>G (p.Ile145Val)	dbSNP ExAC gnomAD v2 COSMIC
17	g.35577285T>G	CA399138142	PEX12	c.433A>C (p.Ile145Leu)
17	g.35577285T=	CA2257587948	PEX12	c.433A= (p.Ile145=)
17	g.35577286A>C	CA499903402	PEX12	c.432T>G (p.Ser144=)
17	g.35577286A>G	CA499903403	PEX12	c.432T>C (p.Ser144=)
17	g.35577286A>T	CA499903404	PEX12	c.432T>A (p.Ser144=)
17	g.35577287G>A	CA290069447	PEX12	c.431C>T (p.Ser144Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577287G>C	CA399138143	PEX12	c.431C>G (p.Ser144Cys)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.35577287G=	CA2257587951	PEX12	c.431C= (p.Ser144=)
17	g.35577287G>T	CA399138144	PEX12	c.431C>A (p.Ser144Tyr)	gnomAD v4
17	g.35577287_35577289delinsTTC	CA658824205	PEX12	c.429_431delinsGAA (p.Tyr143Ter)	ClinVar
17	g.35577288A=	CA2257587956	PEX12	c.430T= (p.Ser144=)
17	g.35577288A>C	CA399138145	PEX12	c.430T>G (p.Ser144Ala)	gnomAD v4
17	g.35577288A>G	CA399138146	PEX12	c.430T>C (p.Ser144Pro)	ClinVar dbSNP
17	g.35577288A>T	CA399138147	PEX12	c.430T>A (p.Ser144Thr)	gnomAD v4
17	g.35577289A>C	CA399138148	PEX12	c.429T>G (p.Tyr143Ter)	gnomAD v4
17	g.35577289A>G	CA499903405	PEX12	c.429T>C (p.Tyr143=)	gnomAD v4
17	g.35577289A>T	CA399138149	PEX12	c.429T>A (p.Tyr143Ter)
17	g.35577290T>A	CA399138150	PEX12	c.428A>T (p.Tyr143Phe)
17	g.35577290T>C	CA290069451	PEX12	c.428A>G (p.Tyr143Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577290T>G	CA399138151	PEX12	c.428A>C (p.Tyr143Ser)
17	g.35577290T=	CA2257587959	PEX12	c.428A= (p.Tyr143=)
17	g.35577291A=	CA2257587960	PEX12	c.427T= (p.Tyr143=)
17	g.35577291A>C	CA399138152	PEX12	c.427T>G (p.Tyr143Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.35577291A>G	CA399138153	PEX12	c.427T>C (p.Tyr143His)
17	g.35577291A>T	CA399138154	PEX12	c.427T>A (p.Tyr143Asn)
17	g.35577292T>A	CA399138155	PEX12	c.426A>T (p.Glu142Asp)
17	g.35577292T>C	CA499903406	PEX12	c.426A>G (p.Glu142=)
17	g.35577292T>G	CA399138156	PEX12	c.426A>C (p.Glu142Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.35577292T=	CA2257587962	PEX12	c.426A= (p.Glu142=)
17	g.35577293T>A	CA399138157	PEX12	c.425A>T (p.Glu142Val)
17	g.35577293T>C	CA399138158	PEX12	c.425A>G (p.Glu142Gly)
17	g.35577293T>G	CA399138159	PEX12	c.425A>C (p.Glu142Ala)
17	g.35577293T=	CA2257587964	PEX12	c.425A= (p.Glu142=)
17	g.35577294C>A	CA399138162	PEX12	c.424G>T (p.Glu142Ter)
17	g.35577294C>G	CA399138161	PEX12	c.424G>C (p.Glu142Gln)
17	g.35577294C>T	CA399138160	PEX12	c.424G>A (p.Glu142Lys)	ClinVar dbSNP
17	g.35577294_35577295dup	CA2257587965	PEX12	c.423_424dup (p.Glu142ValfsTer26)	dbSNP
17	g.35577295A>C	CA399138163	PEX12	c.423T>G (p.Asp141Glu)
17	g.35577295A>G	CA499903407	PEX12	c.423T>C (p.Asp141=)
17	g.35577295A>T	CA399138164	PEX12	c.423T>A (p.Asp141Glu)
17	g.35577296T>A	CA399138165	PEX12	c.422A>T (p.Asp141Val)
17	g.35577296T>C	CA399138166	PEX12	c.422A>G (p.Asp141Gly)	ClinVar dbSNP
17	g.35577296T>G	CA8504910	PEX12	c.422A>C (p.Asp141Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577296T=	CA2257587967	PEX12	c.422A= (p.Asp141=)
17	g.35577297C>A	CA399138169	PEX12	c.421G>T (p.Asp141Tyr)
17	g.35577297C=	CA2257587969	PEX12	c.421G= (p.Asp141=)
17	g.35577297C>G	CA399138168	PEX12	c.421G>C (p.Asp141His)
17	g.35577297C>T	CA399138167	PEX12	c.421G>A (p.Asp141Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577298C>A	CA399138170	PEX12	c.420G>T (p.Glu140Asp)
17	g.35577298C=	CA2257587970	PEX12	c.420G= (p.Glu140=)
17	g.35577298C>G	CA399138171	PEX12	c.420G>C (p.Glu140Asp)
17	g.35577298C>T	CA8504911	PEX12	c.420G>A (p.Glu140=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577302_35577306del	CA2637283093	PEX12	c.416_420del (p.Glu139GlyfsTer2)	gnomAD v4
17	g.35577299T>A	CA399138172	PEX12	c.419A>T (p.Glu140Val)
17	g.35577299T>C	CA399138173	PEX12	c.419A>G (p.Glu140Gly)
17	g.35577299T>G	CA399138174	PEX12	c.419A>C (p.Glu140Ala)
17	g.35577300C>A	CA399138175	PEX12	c.418G>T (p.Glu140Ter)
17	g.35577300C=	CA2257587972	PEX12	c.418G= (p.Glu140=)
17	g.35577300C>G	CA399138176	PEX12	c.418G>C (p.Glu140Gln)
17	g.35577300C>T	CA290069456	PEX12	c.418G>A (p.Glu140Lys)	dbSNP
17	g.35577301T>A	CA399138177	PEX12	c.417A>T (p.Glu139Asp)
17	g.35577301T>C	CA499903408	PEX12	c.417A>G (p.Glu139=)
17	g.35577301T>G	CA399138178	PEX12	c.417A>C (p.Glu139Asp)	gnomAD v4
17	g.35577302T>A	CA399138179	PEX12	c.416A>T (p.Glu139Val)
17	g.35577302T>C	CA399138180	PEX12	c.416A>G (p.Glu139Gly)	ClinVar
17	g.35577302T>G	CA399138181	PEX12	c.416A>C (p.Glu139Ala)
17	g.35577303C>A	CA399138182	PEX12	c.415G>T (p.Glu139Ter)	COSMIC
17	g.35577303C=	CA2257587974	PEX12	c.415G= (p.Glu139=)
17	g.35577303C>G	CA399138183	PEX12	c.415G>C (p.Glu139Gln)
17	g.35577303C>T	CA8504912	PEX12	c.415G>A (p.Glu139Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577304T>A	CA399138184	PEX12	c.414A>T (p.Arg138Ser)
17	g.35577304T>C	CA499903409	PEX12	c.414A>G (p.Arg138=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.35577304T>G	CA399138185	PEX12	c.414A>C (p.Arg138Ser)
17	g.35577304T=	CA2257587976	PEX12	c.414A= (p.Arg138=)
17	g.35577305C>A	CA399138188	PEX12	c.413G>T (p.Arg138Ile)	ClinVar dbSNP
17	g.35577305C=	CA2257587977	PEX12	c.413G= (p.Arg138=)
17	g.35577305C>G	CA399138187	PEX12	c.413G>C (p.Arg138Thr)
17	g.35577305C>T	CA399138186	PEX12	c.413G>A (p.Arg138Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.35577306T>A	CA399138189	PEX12	c.412A>T (p.Arg138Ter)
17	g.35577306T>C	CA399138190	PEX12	c.412A>G (p.Arg138Gly)
17	g.35577306T>G	CA499903410	PEX12	c.412A>C (p.Arg138=)
17	g.35577307C>A	CA499903412	PEX12	c.411G>T (p.Leu137=)
17	g.35577307C>G	CA499903413	PEX12	c.411G>C (p.Leu137=)
17	g.35577307C>T	CA499903411	PEX12	c.411G>A (p.Leu137=)
17	g.35577308A>C	CA399138191	PEX12	c.410T>G (p.Leu137Arg)
17	g.35577308A>G	CA399138193	PEX12	c.410T>C (p.Leu137Pro)
17	g.35577308A>T	CA399138192	PEX12	c.410T>A (p.Leu137Gln)
17	g.35577309G>A	CA8504913	PEX12	c.409C>T (p.Leu137=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.35577309G>C	CA399138194	PEX12	c.409C>G (p.Leu137Val)
17	g.35577309G=	CA2257587978	PEX12	c.409C= (p.Leu137=)
17	g.35577309G>T	CA290069464	PEX12	c.409C>A (p.Leu137Met)	dbSNP
17	g.35577310G>A	CA499903414	PEX12	c.408C>T (p.Ser136=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577310G>C	CA399138195	PEX12	c.408C>G (p.Ser136Arg)
17	g.35577310G=	CA2257587980	PEX12	c.408C= (p.Ser136=)
17	g.35577310G>T	CA399138196	PEX12	c.408C>A (p.Ser136Arg)
17	g.35577310_35577327dup	CA2573153723	PEX12	c.391_408dup (p.Ser136_Leu137insGluLysLeuValSerSer)	ClinVar dbSNP
17	g.35577311C>A	CA399138197	PEX12	c.407G>T (p.Ser136Ile)
17	g.35577311C>G	CA399138198	PEX12	c.407G>C (p.Ser136Thr)
17	g.35577311C>T	CA399138199	PEX12	c.407G>A (p.Ser136Asn)
17	g.35577312T>A	CA399138200	PEX12	c.406A>T (p.Ser136Cys)
17	g.35577312T>C	CA8504914	PEX12	c.406A>G (p.Ser136Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577312T>G	CA399138201	PEX12	c.406A>C (p.Ser136Arg)
17	g.35577312T=	CA2257587982	PEX12	c.406A= (p.Ser136=)
17	g.35577313A>C	CA499903415	PEX12	c.405T>G (p.Ser135=)
17	g.35577313A>G	CA499903416	PEX12	c.405T>C (p.Ser135=)
17	g.35577313A>T	CA499903417	PEX12	c.405T>A (p.Ser135=)
17	g.35577314G>A	CA399138202	PEX12	c.404C>T (p.Ser135Phe)	gnomAD v4
17	g.35577314G>C	CA399138203	PEX12	c.404C>G (p.Ser135Cys)
17	g.35577314G>T	CA399138204	PEX12	c.404C>A (p.Ser135Tyr)
17	g.35577315A>C	CA399138207	PEX12	c.403T>G (p.Ser135Ala)
17	g.35577315A>G	CA399138205	PEX12	c.403T>C (p.Ser135Pro)
17	g.35577315A>T	CA399138206	PEX12	c.403T>A (p.Ser135Thr)
17	g.35577316A>C	CA499903418	PEX12	c.402T>G (p.Val134=)
17	g.35577316A>G	CA499903419	PEX12	c.402T>C (p.Val134=)
17	g.35577316A>T	CA499903420	PEX12	c.402T>A (p.Val134=)
17	g.35577317A=	CA2257587985	PEX12	c.401T= (p.Val134=)
17	g.35577317A>C	CA399138208	PEX12	c.401T>G (p.Val134Gly)	dbSNP
17	g.35577317A>G	CA399138209	PEX12	c.401T>C (p.Val134Ala)
17	g.35577317A>T	CA399138210	PEX12	c.401T>A (p.Val134Asp)
17	g.35577317_35577326del	CA913002800	PEX12	c.392_401del (p.Glu131ValfsTer4)
17	g.35577317_35577326delinsACCAGCTTCT	CA2257587984	PEX12	c.392_401delinsAGAAGCTGGT (p.Glu131=)
17	g.35577318C>A	CA399138211	PEX12	c.400G>T (p.Val134Phe)
17	g.35577318C>G	CA399138212	PEX12	c.400G>C (p.Val134Leu)
17	g.35577318C>T	CA399138213	PEX12	c.400G>A (p.Val134Ile)	gnomAD v4
17	g.35577326_35577334del	CA626205333	PEX12	c.392_400del (p.Glu131_Leu133del)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577319C>A	CA499903423	PEX12	c.399G>T (p.Leu133=)	ClinVar
17	g.35577319C>G	CA499903422	PEX12	c.399G>C (p.Leu133=)
17	g.35577319C>T	CA499903421	PEX12	c.399G>A (p.Leu133=)
17	g.35577320A=	CA2257587988	PEX12	c.398T= (p.Leu133=)
17	g.35577320A>C	CA399138214	PEX12	c.398T>G (p.Leu133Arg)
17	g.35577320A>G	CA399138215	PEX12	c.398T>C (p.Leu133Pro)	ClinVar
17	g.35577320A>T	CA399138216	PEX12	c.398T>A (p.Leu133Gln)	ClinVar dbSNP
17	g.35577321G>A	CA499903424	PEX12	c.397C>T (p.Leu133=)	gnomAD v4
17	g.35577321G>C	CA399138217	PEX12	c.397C>G (p.Leu133Val)
17	g.35577321G>T	CA399138218	PEX12	c.397C>A (p.Leu133Met)	gnomAD v4
17	g.35577322C>A	CA399138220	PEX12	c.396G>T (p.Lys132Asn)	gnomAD v4
17	g.35577322C>G	CA399138219	PEX12	c.396G>C (p.Lys132Asn)
17	g.35577322C>T	CA499903425	PEX12	c.396G>A (p.Lys132=)	ClinVar dbSNP
17	g.35577323T>A	CA399138221	PEX12	c.395A>T (p.Lys132Met)
17	g.35577323T>C	CA399138222	PEX12	c.395A>G (p.Lys132Arg)
17	g.35577323T>G	CA399138223	PEX12	c.395A>C (p.Lys132Thr)
17	g.35577324T>A	CA399138224	PEX12	c.394A>T (p.Lys132Ter)
17	g.35577324T>C	CA399138225	PEX12	c.394A>G (p.Lys132Glu)
17	g.35577324T>G	CA399138226	PEX12	c.394A>C (p.Lys132Gln)
17	g.35577325C>A	CA399138228	PEX12	c.393G>T (p.Glu131Asp)
17	g.35577325C>G	CA399138227	PEX12	c.393G>C (p.Glu131Asp)
17	g.35577325C>T	CA499903426	PEX12	c.393G>A (p.Glu131=)
17	g.35577326T>A	CA399138229	PEX12	c.392A>T (p.Glu131Val)
17	g.35577326T>C	CA399138230	PEX12	c.392A>G (p.Glu131Gly)
17	g.35577326T>G	CA399138231	PEX12	c.392A>C (p.Glu131Ala)
17	g.35577327C>A	CA8504915	PEX12	c.391G>T (p.Glu131Ter)	dbSNP ExAC gnomAD v2
17	g.35577327C=	CA2257587990	PEX12	c.391G= (p.Glu131=)
17	g.35577327C>G	CA399138232	PEX12	c.391G>C (p.Glu131Gln)	gnomAD v4
17	g.35577327C>T	CA399138233	PEX12	c.391G>A (p.Glu131Lys)	ClinVar dbSNP
17	g.35577328C>A	CA499903429	PEX12	c.390G>T (p.Leu130=)
17	g.35577328C>G	CA499903428	PEX12	c.390G>C (p.Leu130=)
17	g.35577328C>T	CA499903427	PEX12	c.390G>A (p.Leu130=)
17	g.35577329A>C	CA399138234	PEX12	c.389T>G (p.Leu130Arg)
17	g.35577329A>G	CA399138236	PEX12	c.389T>C (p.Leu130Pro)	gnomAD v4
17	g.35577329A>T	CA399138235	PEX12	c.389T>A (p.Leu130Gln)
17	g.35577330G>A	CA8504916	PEX12	c.388C>T (p.Leu130=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577330G>C	CA399138237	PEX12	c.388C>G (p.Leu130Val)
17	g.35577330G=	CA2257587991	PEX12	c.388C= (p.Leu130=)
17	g.35577330G>T	CA399138238	PEX12	c.388C>A (p.Leu130Met)
17	g.35577331C>A	CA399138239	PEX12	c.387G>T (p.Lys129Asn)
17	g.35577331C>G	CA399138240	PEX12	c.387G>C (p.Lys129Asn)
17	g.35577331C>T	CA499903430	PEX12	c.387G>A (p.Lys129=)	gnomAD v4
17	g.35577332T>A	CA399138241	PEX12	c.386A>T (p.Lys129Met)
17	g.35577332T>C	CA399138242	PEX12	c.386A>G (p.Lys129Arg)
17	g.35577332T>G	CA399138243	PEX12	c.386A>C (p.Lys129Thr)
17	g.35577333T>A	CA399138244	PEX12	c.385A>T (p.Lys129Ter)
17	g.35577333T>C	CA399138245	PEX12	c.385A>G (p.Lys129Glu)
17	g.35577333T>G	CA399138246	PEX12	c.385A>C (p.Lys129Gln)
17	g.35577334C>A	CA499903432	PEX12	c.384G>T (p.Val128=)
17	g.35577334C>G	CA499903433	PEX12	c.384G>C (p.Val128=)
17	g.35577334C>T	CA499903435	PEX12	c.384G>A (p.Val128=)	COSMIC
17	g.35577335A=	CA2257587993	PEX12	c.383T= (p.Val128=)
17	g.35577335A>C	CA399138249	PEX12	c.383T>G (p.Val128Gly)
17	g.35577335A>G	CA399138248	PEX12	c.383T>C (p.Val128Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.35577335A>T	CA399138247	PEX12	c.383T>A (p.Val128Glu)
17	g.35577336C>A	CA399138250	PEX12	c.382G>T (p.Val128Leu)
17	g.35577336C>G	CA399138252	PEX12	c.382G>C (p.Val128Leu)
17	g.35577336C>T	CA399138251	PEX12	c.382G>A (p.Val128Met)	ClinVar dbSNP
17	g.35577337T>A	CA399138253	PEX12	c.381A>T (p.Lys127Asn)
17	g.35577337T>C	CA499903438	PEX12	c.381A>G (p.Lys127=)
17	g.35577337T>G	CA399138254	PEX12	c.381A>C (p.Lys127Asn)
17	g.35577338T>A	CA399138255	PEX12	c.380A>T (p.Lys127Ile)
17	g.35577338T>C	CA399138256	PEX12	c.380A>G (p.Lys127Arg)
17	g.35577338T>G	CA399138257	PEX12	c.380A>C (p.Lys127Thr)	gnomAD v4
17	g.35577339T>A	CA399138258	PEX12	c.379A>T (p.Lys127Ter)	ClinVar gnomAD v4
17	g.35577339T>C	CA399138259	PEX12	c.379A>G (p.Lys127Glu)
17	g.35577339T>G	CA399138260	PEX12	c.379A>C (p.Lys127Gln)
17	g.35577340C>A	CA499903444	PEX12	c.378G>T (p.Leu126=)
17	g.35577340C=	CA2257587994	PEX12	c.378G= (p.Leu126=)
17	g.35577340C>G	CA499903442	PEX12	c.378G>C (p.Leu126=)	dbSNP
17	g.35577340C>T	CA499903446	PEX12	c.378G>A (p.Leu126=)	COSMIC
17	g.35577341A>C	CA399138261	PEX12	c.377T>G (p.Leu126Arg)
17	g.35577341A>G	CA399138262	PEX12	c.377T>C (p.Leu126Pro)
17	g.35577341A>T	CA399138263	PEX12	c.377T>A (p.Leu126Gln)
17	g.35577342G>A	CA499903447	PEX12	c.376C>T (p.Leu126=)
17	g.35577342G>C	CA399138264	PEX12	c.376C>G (p.Leu126Val)
17	g.35577342G=	CA2257587996	PEX12	c.376C= (p.Leu126=)
17	g.35577342G>T	CA290069500	PEX12	c.376C>A (p.Leu126Met)	dbSNP
17	g.35577343A=	CA2257587997	PEX12	c.375T= (p.Tyr125=)
17	g.35577343A>C	CA399138265	PEX12	c.375T>G (p.Tyr125Ter)
17	g.35577343A>G	CA499903450	PEX12	c.375T>C (p.Tyr125=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.35577343A>T	CA399138266	PEX12	c.375T>A (p.Tyr125Ter)
17	g.35577344T>A	CA399138267	PEX12	c.374A>T (p.Tyr125Phe)	ClinVar
17	g.35577344T>C	CA399138268	PEX12	c.374A>G (p.Tyr125Cys)
17	g.35577344T>G	CA399138269	PEX12	c.374A>C (p.Tyr125Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.35577344T=	CA2257587999	PEX12	c.374A= (p.Tyr125=)
17	g.35577345A>C	CA399138270	PEX12	c.373T>G (p.Tyr125Asp)
17	g.35577345A>G	CA399138271	PEX12	c.373T>C (p.Tyr125His)	ClinVar dbSNP
17	g.35577345A>T	CA399138272	PEX12	c.373T>A (p.Tyr125Asn)
17	g.35577346G>A	CA499903453	PEX12	c.372C>T (p.Pro124=)
17	g.35577346G>C	CA499903455	PEX12	c.372C>G (p.Pro124=)	ClinVar
17	g.35577346G=	CA2257588000	PEX12	c.372C= (p.Pro124=)
17	g.35577346G>T	CA8504917	PEX12	c.372C>A (p.Pro124=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.35577347G>A	CA399138273	PEX12	c.371C>T (p.Pro124Leu)
17	g.35577347G>C	CA399138274	PEX12	c.371C>G (p.Pro124Arg)
17	g.35577347G>T	CA399138275	PEX12	c.371C>A (p.Pro124His)
17	g.35577347_35577350delinsGGAA	CA2257588002	PEX12	c.368_371delinsTTCC (p.Leu123=)
17	g.35577348G>A	CA399138277	PEX12	c.370C>T (p.Pro124Ser)
17	g.35577348G>C	CA399138278	PEX12	c.370C>G (p.Pro124Ala)
17	g.35577348G>T	CA399138276	PEX12	c.370C>A (p.Pro124Thr)
17	g.35577354_35577356del	CA8504918	PEX12	c.368_370del (p.Leu123del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.35577349A>C	CA499903457	PEX12	c.369T>G (p.Leu123=)
17	g.35577349A>G	CA499903458	PEX12	c.369T>C (p.Leu123=)
17	g.35577349A>T	CA499903460	PEX12	c.369T>A (p.Leu123=)
17	g.35577350A=	CA2257588004	PEX12	c.368T= (p.Leu123=)
17	g.35577350A>C	CA399138279	PEX12	c.368T>G (p.Leu123Arg)
17	g.35577350A>G	CA399138280	PEX12	c.368T>C (p.Leu123Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.35577350A>T	CA399138281	PEX12	c.368T>A (p.Leu123His)

Number of alleles fetched