Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.61031835G>A	CA346943658	PEX13	c.509G>A (p.Arg170Gln) n.572G>A c.392G>A (p.Arg131Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.61031835G>C	CA346943660	PEX13	c.509G>C (p.Arg170Pro) n.572G>C c.392G>C (p.Arg131Pro)
2	g.61031835G=	CA1255168138	PEX13	c.509G= (p.Arg170=) n.572G= c.392G= (p.Arg131=)
2	g.61031835G>T	CA1673306	PEX13	c.509G>T (p.Arg170Leu) n.572G>T c.392G>T (p.Arg131Leu)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.61031836A>C	CA426411597	PEX13	c.510A>C (p.Arg170=) n.573A>C c.393A>C (p.Arg131=)
2	g.61031836A>G	CA426411598	PEX13	c.510A>G (p.Arg170=) n.573A>G c.393A>G (p.Arg131=)	ClinVar gnomAD v4
2	g.61031836A>T	CA426411599	PEX13	c.510A>T (p.Arg170=) n.573A>T c.393A>T (p.Arg131=)
2	g.61031837T>A	CA346943663	PEX13	c.511T>A (p.Leu171Met) n.574T>A c.394T>A (p.Leu132Met)
2	g.61031837T>C	CA426411600	PEX13	c.511T>C (p.Leu171=) n.574T>C c.394T>C (p.Leu132=)	ClinVar gnomAD v4
2	g.61031837T>G	CA346943665	PEX13	c.511T>G (p.Leu171Val) n.574T>G c.394T>G (p.Leu132Val)	dbSNP
2	g.61031837T=	CA1255168139	PEX13	c.511T= (p.Leu171=) n.574T= c.394T= (p.Leu132=)
2	g.61031838T>A	CA346943669	PEX13	c.512T>A (p.Leu171Ter) n.575T>A c.395T>A (p.Leu132Ter)
2	g.61031838T>C	CA346943672	PEX13	c.512T>C (p.Leu171Ser) n.575T>C c.395T>C (p.Leu132Ser)
2	g.61031838T>G	CA346943667	PEX13	c.512T>G (p.Leu171Trp) n.575T>G c.395T>G (p.Leu132Trp)	dbSNP
2	g.61031839G>A	CA426411604	PEX13	c.513G>A (p.Leu171=) n.576G>A c.396G>A (p.Leu132=)	gnomAD v4
2	g.61031839G>C	CA346943674	PEX13	c.513G>C (p.Leu171Phe) n.576G>C c.396G>C (p.Leu132Phe)
2	g.61031839G>T	CA346943676	PEX13	c.513G>T (p.Leu171Phe) n.576G>T c.396G>T (p.Leu132Phe)
2	g.61031840A>C	CA346943678	PEX13	c.514A>C (p.Lys172Gln) n.577A>C c.397A>C (p.Lys133Gln)	gnomAD v4
2	g.61031840A>G	CA346943680	PEX13	c.514A>G (p.Lys172Glu) n.577A>G c.397A>G (p.Lys133Glu)
2	g.61031840A>T	CA346943682	PEX13	c.514A>T (p.Lys172Ter) n.577A>T c.397A>T (p.Lys133Ter)
2	g.61031843del	CA2659190592	PEX13	c.517del (p.Ile173TyrfsTer27) n.580del c.400del (p.Ile134TyrfsTer27)	gnomAD v4
2	g.61031841A>C	CA346943686	PEX13	c.515A>C (p.Lys172Thr) n.578A>C c.398A>C (p.Lys133Thr)
2	g.61031841A>G	CA346943684	PEX13	c.515A>G (p.Lys172Arg) n.578A>G c.398A>G (p.Lys133Arg)
2	g.61031841A>T	CA346943685	PEX13	c.515A>T (p.Lys172Ile) n.578A>T c.398A>T (p.Lys133Ile)
2	g.61031842A>C	CA346943688	PEX13	c.516A>C (p.Lys172Asn) n.579A>C c.399A>C (p.Lys133Asn)
2	g.61031842A>G	CA426411608	PEX13	c.516A>G (p.Lys172=) n.579A>G c.399A>G (p.Lys133=)
2	g.61031842A>T	CA346943690	PEX13	c.516A>T (p.Lys172Asn) n.579A>T c.399A>T (p.Lys133Asn)
2	g.61031843A>C	CA346943692	PEX13	c.517A>C (p.Ile173Leu) n.580A>C c.400A>C (p.Ile134Leu)
2	g.61031843A>G	CA346943693	PEX13	c.517A>G (p.Ile173Val) n.580A>G c.400A>G (p.Ile134Val)	gnomAD v4
2	g.61031843A>T	CA346943695	PEX13	c.517A>T (p.Ile173Leu) n.580A>T c.400A>T (p.Ile134Leu)
2	g.61031844T>A	CA346943702	PEX13	c.518T>A (p.Ile173Lys) n.581T>A c.401T>A (p.Ile134Lys)
2	g.61031844T>C	CA346943698	PEX13	c.518T>C (p.Ile173Thr) n.581T>C c.401T>C (p.Ile134Thr)
2	g.61031844T>G	CA346943696	PEX13	c.518T>G (p.Ile173Arg) n.581T>G c.401T>G (p.Ile134Arg)
2	g.61031845A>C	CA426411610	PEX13	c.519A>C (p.Ile173=) n.582A>C c.402A>C (p.Ile134=)
2	g.61031845A>G	CA346943705	PEX13	c.519A>G (p.Ile173Met) n.582A>G c.402A>G (p.Ile134Met)
2	g.61031845A>T	CA426411611	PEX13	c.519A>T (p.Ile173=) n.582A>T c.402A>T (p.Ile134=)
2	g.61031846C>A	CA346943710	PEX13	c.520C>A (p.His174Asn) n.583C>A c.403C>A (p.His135Asn)	gnomAD v4
2	g.61031846C=	CA1255168140	PEX13	c.520C= (p.His174=) n.583C= c.403C= (p.His135=)
2	g.61031846C>G	CA346943708	PEX13	c.520C>G (p.His174Asp) n.583C>G c.403C>G (p.His135Asp)
2	g.61031846C>T	CA1673307	PEX13	c.520C>T (p.His174Tyr) n.583C>T c.403C>T (p.His135Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031847A=	CA1255168141	PEX13	c.521A= (p.His174=) n.584A= c.404A= (p.His135=)
2	g.61031847A>C	CA346943713	PEX13	c.521A>C (p.His174Pro) n.584A>C c.404A>C (p.His135Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.61031847A>G	CA346943715	PEX13	c.521A>G (p.His174Arg) n.584A>G c.404A>G (p.His135Arg)	COSMIC
2	g.61031847A>T	CA346943717	PEX13	c.521A>T (p.His174Leu) n.584A>T c.404A>T (p.His135Leu)
2	g.61031848C>A	CA346943719	PEX13	c.522C>A (p.His174Gln) n.585C>A c.405C>A (p.His135Gln)
2	g.61031848C>G	CA346943721	PEX13	c.522C>G (p.His174Gln) n.585C>G c.405C>G (p.His135Gln)	gnomAD v4
2	g.61031848C>T	CA426411615	PEX13	c.522C>T (p.His174=) n.585C>T c.405C>T (p.His135=)	gnomAD v4
2	g.61031849T>A	CA346943723	PEX13	c.523T>A (p.Phe175Ile) n.586T>A c.406T>A (p.Phe136Ile)
2	g.61031849T>C	CA346943725	PEX13	c.523T>C (p.Phe175Leu) n.586T>C c.406T>C (p.Phe136Leu)
2	g.61031849T>G	CA346943727	PEX13	c.523T>G (p.Phe175Val) n.586T>G c.406T>G (p.Phe136Val)	gnomAD v4
2	g.61031850T>A	CA346943742	PEX13	c.524T>A (p.Phe175Tyr) n.587T>A c.407T>A (p.Phe136Tyr)
2	g.61031850T>C	CA346943739	PEX13	c.524T>C (p.Phe175Ser) n.587T>C c.407T>C (p.Phe136Ser)
2	g.61031850T>G	CA346943729	PEX13	c.524T>G (p.Phe175Cys) n.587T>G c.407T>G (p.Phe136Cys)
2	g.61031851T>A	CA346943744	PEX13	c.525T>A (p.Phe175Leu) n.588T>A c.408T>A (p.Phe136Leu)
2	g.61031851T>C	CA426411616	PEX13	c.525T>C (p.Phe175=) n.588T>C c.408T>C (p.Phe136=)
2	g.61031851T>G	CA346943745	PEX13	c.525T>G (p.Phe175Leu) n.588T>G c.408T>G (p.Phe136Leu)	gnomAD v4
2	g.61031852A=	CA1255168142	PEX13	c.526A= (p.Thr176=) n.589A= c.409A= (p.Thr137=)
2	g.61031852A>C	CA346943746	PEX13	c.526A>C (p.Thr176Pro) n.589A>C c.409A>C (p.Thr137Pro)
2	g.61031852A>G	CA1673308	PEX13	c.526A>G (p.Thr176Ala) n.589A>G c.409A>G (p.Thr137Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031852A>T	CA346943747	PEX13	c.526A>T (p.Thr176Ser) n.589A>T c.409A>T (p.Thr137Ser)
2	g.61031853C>A	CA346943748	PEX13	c.527C>A (p.Thr176Lys) n.590C>A c.410C>A (p.Thr137Lys)	gnomAD v4
2	g.61031853C=	CA1255168143	PEX13	c.527C= (p.Thr176=) n.590C= c.410C= (p.Thr137=)
2	g.61031853C>G	CA346943750	PEX13	c.527C>G (p.Thr176Arg) n.590C>G c.410C>G (p.Thr137Arg)
2	g.61031853C>T	CA1673309	PEX13	c.527C>T (p.Thr176Ile) n.590C>T c.410C>T (p.Thr137Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031853_61031856delinsCAAA	CA1255168144	PEX13	c.527_530delinsCAAA (p.Thr176=) n.590_593delinsCAAA c.410_413delinsCAAA (p.Thr137=)
2	g.61031854A=	CA1255168145	PEX13	c.528A= (p.Thr176=) n.591A= c.411A= (p.Thr137=)
2	g.61031854A>C	CA426411621	PEX13	c.528A>C (p.Thr176=) n.591A>C c.411A>C (p.Thr137=)
2	g.61031854A>G	CA1673310	PEX13	c.528A>G (p.Thr176=) n.591A>G c.411A>G (p.Thr137=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031854A>T	CA426411620	PEX13	c.528A>T (p.Thr176=) n.591A>T c.411A>T (p.Thr137=)
2	g.61031855_61031857del	CA1139657043	PEX13	c.529_531del (p.Lys177del) n.592_594del c.412_414del (p.Lys138del)	ClinVar dbSNP
2	g.61031855A=	CA1255168146	PEX13	c.529A= (p.Lys177=) n.592A= c.412A= (p.Lys138=)
2	g.61031855A>C	CA346943754	PEX13	c.529A>C (p.Lys177Gln) n.592A>C c.412A>C (p.Lys138Gln)	dbSNP
2	g.61031855A>G	CA346943756	PEX13	c.529A>G (p.Lys177Glu) n.592A>G c.412A>G (p.Lys138Glu)
2	g.61031855A>T	CA346943757	PEX13	c.529A>T (p.Lys177Ter) n.592A>T c.412A>T (p.Lys138Ter)
2	g.61031856A>C	CA346943760	PEX13	c.530A>C (p.Lys177Thr) n.593A>C c.413A>C (p.Lys138Thr)	gnomAD v4
2	g.61031856A>G	CA346943761	PEX13	c.530A>G (p.Lys177Arg) n.593A>G c.413A>G (p.Lys138Arg)
2	g.61031856A>T	CA346943759	PEX13	c.530A>T (p.Lys177Ile) n.593A>T c.413A>T (p.Lys138Ile)
2	g.61031857A>C	CA346943763	PEX13	c.531A>C (p.Lys177Asn) n.594A>C c.414A>C (p.Lys138Asn)
2	g.61031857A>G	CA426411623	PEX13	c.531A>G (p.Lys177=) n.594A>G c.414A>G (p.Lys138=)
2	g.61031857A>T	CA346943764	PEX13	c.531A>T (p.Lys177Asn) n.594A>T c.414A>T (p.Lys138Asn)
2	g.61031858G>A	CA346943765	PEX13	c.532G>A (p.Val178Met) n.595G>A c.415G>A (p.Val139Met)	gnomAD v4
2	g.61031858G>C	CA346943766	PEX13	c.532G>C (p.Val178Leu) n.595G>C c.415G>C (p.Val139Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031858G=	CA1255168147	PEX13	c.532G= (p.Val178=) n.595G= c.415G= (p.Val139=)
2	g.61031858G>T	CA346943767	PEX13	c.532G>T (p.Val178Leu) n.595G>T c.415G>T (p.Val139Leu)
2	g.61031859T>A	CA346943768	PEX13	c.533T>A (p.Val178Glu) n.596T>A c.416T>A (p.Val139Glu)
2	g.61031859T>C	CA346943769	PEX13	c.533T>C (p.Val178Ala) n.596T>C c.416T>C (p.Val139Ala)
2	g.61031859T>G	CA346943770	PEX13	c.533T>G (p.Val178Gly) n.596T>G c.416T>G (p.Val139Gly)
2	g.61031860G>A	CA426411624	PEX13	c.534G>A (p.Val178=) n.597G>A c.417G>A (p.Val139=)	dbSNP
2	g.61031860G>C	CA426411625	PEX13	c.534G>C (p.Val178=) n.597G>C c.417G>C (p.Val139=)	gnomAD v4
2	g.61031860G=	CA1255168148	PEX13	c.534G= (p.Val178=) n.597G= c.417G= (p.Val139=)
2	g.61031860G>T	CA426411626	PEX13	c.534G>T (p.Val178=) n.597G>T c.417G>T (p.Val139=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.61031861T>A	CA346943772	PEX13	c.535T>A (p.Phe179Ile) n.598T>A c.418T>A (p.Phe140Ile)
2	g.61031861T>C	CA346943773	PEX13	c.535T>C (p.Phe179Leu) n.598T>C c.418T>C (p.Phe140Leu)
2	g.61031861T>G	CA346943774	PEX13	c.535T>G (p.Phe179Val) n.598T>G c.418T>G (p.Phe140Val)
2	g.61031862T>A	CA346943775	PEX13	c.536T>A (p.Phe179Tyr) n.599T>A c.419T>A (p.Phe140Tyr)
2	g.61031862T>C	CA346943776	PEX13	c.536T>C (p.Phe179Ser) n.599T>C c.419T>C (p.Phe140Ser)
2	g.61031862T>G	CA346943778	PEX13	c.536T>G (p.Phe179Cys) n.599T>G c.419T>G (p.Phe140Cys)	gnomAD v4
2	g.61031863T>A	CA346943786	PEX13	c.537T>A (p.Phe179Leu) n.600T>A c.420T>A (p.Phe140Leu)
2	g.61031863T>C	CA426411627	PEX13	c.537T>C (p.Phe179=) n.600T>C c.420T>C (p.Phe140=)	gnomAD v4
2	g.61031863T>G	CA346943788	PEX13	c.537T>G (p.Phe179Leu) n.600T>G c.420T>G (p.Phe140Leu)
2	g.61031864T>A	CA346943789	PEX13	c.538T>A (p.Ser180Thr) n.601T>A c.421T>A (p.Ser141Thr)
2	g.61031864T>C	CA346943791	PEX13	c.538T>C (p.Ser180Pro) n.601T>C c.421T>C (p.Ser141Pro)	gnomAD v4
2	g.61031864T>G	CA346943793	PEX13	c.538T>G (p.Ser180Ala) n.601T>G c.421T>G (p.Ser141Ala)
2	g.61031865C>A	CA346943796	PEX13	c.539C>A (p.Ser180Ter) c.422C>A (p.Ser141Ter)
2	g.61031865C=	CA1255168149	PEX13	c.539C= (p.Ser180=) c.422C= (p.Ser141=)
2	g.61031865C>G	CA346943797	PEX13	c.539C>G (p.Ser180Ter) c.422C>G (p.Ser141Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.61031865C>T	CA346943799	PEX13	c.539C>T (p.Ser180Leu) c.422C>T (p.Ser141Leu)
2	g.61031866A>C	CA426411631	PEX13	c.540A>C (p.Ser180=) c.423A>C (p.Ser141=)	ClinVar
2	g.61031866A>G	CA426411632	PEX13	c.540A>G (p.Ser180=) c.423A>G (p.Ser141=)
2	g.61031866A>T	CA426411633	PEX13	c.540A>T (p.Ser180=) c.423A>T (p.Ser141=)
2	g.61031867G>A	CA346943801	PEX13	c.541G>A (p.Ala181Thr) c.424G>A (p.Ala142Thr)	dbSNP
2	g.61031867G>C	CA346943802	PEX13	c.541G>C (p.Ala181Pro) c.424G>C (p.Ala142Pro)
2	g.61031867G=	CA1255168150	PEX13	c.541G= (p.Ala181=) c.424G= (p.Ala142=)
2	g.61031867G>T	CA346943804	PEX13	c.541G>T (p.Ala181Ser) c.424G>T (p.Ala142Ser)
2	g.61031868C>A	CA346943805	PEX13	c.542C>A (p.Ala181Asp) c.425C>A (p.Ala142Asp)
2	g.61031868C=	CA1255168151	PEX13	c.542C= (p.Ala181=) c.425C= (p.Ala142=)
2	g.61031868C>G	CA346943806	PEX13	c.542C>G (p.Ala181Gly) c.425C>G (p.Ala142Gly)
2	g.61031868C>T	CA346943808	PEX13	c.542C>T (p.Ala181Val) c.425C>T (p.Ala142Val)	gnomAD v4
2	g.61031869T>A	CA426411636	PEX13	c.543T>A (p.Ala181=) c.426T>A (p.Ala142=)
2	g.61031869T>C	CA426411637	PEX13	c.543T>C (p.Ala181=) c.426T>C (p.Ala142=)	gnomAD v4
2	g.61031869T>G	CA426411638	PEX13	c.543T>G (p.Ala181=) c.426T>G (p.Ala142=)
2	g.61031869T=	CA1255168152	PEX13	c.543T= (p.Ala181=) c.426T= (p.Ala142=)
2	g.61031872dup	CA916548291	PEX13	c.546dup (p.Ala183CysfsTer4) c.429dup (p.Ala144CysfsTer4)	dbSNP
2	g.61031870T>A	CA346943811	PEX13	c.544T>A (p.Phe182Ile) c.427T>A (p.Phe143Ile)
2	g.61031870T>C	CA346943810	PEX13	c.544T>C (p.Phe182Leu) c.427T>C (p.Phe143Leu)
2	g.61031870T>G	CA346943809	PEX13	c.544T>G (p.Phe182Val) c.427T>G (p.Phe143Val)
2	g.61031870_61031871insAAT	CA916548292	PEX13	c.544_545insAAT (p.Phe182Ter) c.427_428insAAT (p.Phe143Ter)	dbSNP
2	g.61031871T>A	CA346943812	PEX13	c.545T>A (p.Phe182Tyr) c.428T>A (p.Phe143Tyr)
2	g.61031871T>C	CA346943816	PEX13	c.545T>C (p.Phe182Ser) c.428T>C (p.Phe143Ser)
2	g.61031871T>G	CA346943814	PEX13	c.545T>G (p.Phe182Cys) c.428T>G (p.Phe143Cys)
2	g.61031872T>A	CA346943818	PEX13	c.546T>A (p.Phe182Leu) c.429T>A (p.Phe143Leu)
2	g.61031872T>C	CA426411640	PEX13	c.546T>C (p.Phe182=) c.429T>C (p.Phe143=)
2	g.61031872T>G	CA346943819	PEX13	c.546T>G (p.Phe182Leu) c.429T>G (p.Phe143Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.61031872T=	CA1255168153	PEX13	c.546T= (p.Phe182=) c.429T= (p.Phe143=)
2	g.61031873G>A	CA346943820	PEX13	c.547G>A (p.Ala183Thr) c.430G>A (p.Ala144Thr)
2	g.61031873G>C	CA346943821	PEX13	c.547G>C (p.Ala183Pro) c.430G>C (p.Ala144Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.61031873G=	CA1255168154	PEX13	c.547G= (p.Ala183=) c.430G= (p.Ala144=)
2	g.61031873G>T	CA346943822	PEX13	c.547G>T (p.Ala183Ser) c.430G>T (p.Ala144Ser)
2	g.61031874C>A	CA346943824	PEX13	c.548C>A (p.Ala183Glu) c.431C>A (p.Ala144Glu)
2	g.61031874C>G	CA346943825	PEX13	c.548C>G (p.Ala183Gly) c.431C>G (p.Ala144Gly)
2	g.61031874C>T	CA346943826	PEX13	c.548C>T (p.Ala183Val) c.431C>T (p.Ala144Val)
2	g.61031875A=	CA1255168155	PEX13	c.549A= (p.Ala183=) c.432A= (p.Ala144=)
2	g.61031875A>C	CA426411642	PEX13	c.549A>C (p.Ala183=) c.432A>C (p.Ala144=)
2	g.61031875A>G	CA426411644	PEX13	c.549A>G (p.Ala183=) c.432A>G (p.Ala144=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.61031875A>T	CA426411643	PEX13	c.549A>T (p.Ala183=) c.432A>T (p.Ala144=)
2	g.61031876T>A	CA346943827	PEX13	c.550T>A (p.Leu184Met) c.433T>A (p.Leu145Met)
2	g.61031876T>C	CA426411647	PEX13	c.550T>C (p.Leu184=) c.433T>C (p.Leu145=)
2	g.61031876T>G	CA346943828	PEX13	c.550T>G (p.Leu184Val) c.433T>G (p.Leu145Val)
2	g.61031877T>A	CA346943829	PEX13	c.551T>A (p.Leu184Ter) c.434T>A (p.Leu145Ter)
2	g.61031877T>C	CA346943832	PEX13	c.551T>C (p.Leu184Ser) c.434T>C (p.Leu145Ser)	gnomAD v4
2	g.61031877T>G	CA346943833	PEX13	c.551T>G (p.Leu184Trp) c.434T>G (p.Leu145Trp)
2	g.61031878G>A	CA48342425	PEX13	c.552G>A (p.Leu184=) c.435G>A (p.Leu145=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031878G>C	CA346943837	PEX13	c.552G>C (p.Leu184Phe) c.435G>C (p.Leu145Phe)
2	g.61031878G=	CA1255168156	PEX13	c.552G= (p.Leu184=) c.435G= (p.Leu145=)
2	g.61031878G>T	CA346943834	PEX13	c.552G>T (p.Leu184Phe) c.435G>T (p.Leu145Phe)	dbSNP gnomAD v2 gnomAD v4
2	g.61031879G>A	CA346943839	PEX13	c.553G>A (p.Val185Ile) c.436G>A (p.Val146Ile)
2	g.61031879G>C	CA346943840	PEX13	c.553G>C (p.Val185Leu) c.436G>C (p.Val146Leu)
2	g.61031879G=	CA1255168157	PEX13	c.553G= (p.Val185=) c.436G= (p.Val146=)
2	g.61031879G>T	CA346943842	PEX13	c.553G>T (p.Val185Phe) c.436G>T (p.Val146Phe)	dbSNP gnomAD v4
2	g.61031880T>A	CA346943844	PEX13	c.554T>A (p.Val185Asp) c.437T>A (p.Val146Asp)
2	g.61031880T>C	CA346943846	PEX13	c.554T>C (p.Val185Ala) c.437T>C (p.Val146Ala)
2	g.61031880T>G	CA346943851	PEX13	c.554T>G (p.Val185Gly) c.437T>G (p.Val146Gly)
2	g.61031881T>A	CA426411648	PEX13	c.555T>A (p.Val185=) c.438T>A (p.Val146=)
2	g.61031881T>C	CA426411649	PEX13	c.555T>C (p.Val185=) c.438T>C (p.Val146=)
2	g.61031881T>G	CA426411650	PEX13	c.555T>G (p.Val185=) c.438T>G (p.Val146=)
2	g.61031882A>C	CA426411651	PEX13	c.556A>C (p.Arg186=) c.439A>C (p.Arg147=)
2	g.61031882A>G	CA346943852	PEX13	c.556A>G (p.Arg186Gly) c.439A>G (p.Arg147Gly)	gnomAD v4
2	g.61031882A>T	CA346943853	PEX13	c.556A>T (p.Arg186Trp) c.439A>T (p.Arg147Trp)	ClinVar dbSNP
2	g.61031883G>A	CA346943855	PEX13	c.557G>A (p.Arg186Lys) c.440G>A (p.Arg147Lys)
2	g.61031883G>C	CA346943856	PEX13	c.557G>C (p.Arg186Thr) c.440G>C (p.Arg147Thr)
2	g.61031883G>T	CA346943858	PEX13	c.557G>T (p.Arg186Met) c.440G>T (p.Arg147Met)
2	g.61031884G>A	CA426411653	PEX13	c.558G>A (p.Arg186=) c.441G>A (p.Arg147=)	ClinVar
2	g.61031884G>C	CA346943860	PEX13	c.558G>C (p.Arg186Ser) c.441G>C (p.Arg147Ser)
2	g.61031884G=	CA1255168158	PEX13	c.558G= (p.Arg186=) c.441G= (p.Arg147=)
2	g.61031884G>T	CA346943861	PEX13	c.558G>T (p.Arg186Ser) c.441G>T (p.Arg147Ser)	dbSNP
2	g.61031885A>C	CA346943866	PEX13	c.559A>C (p.Thr187Pro) c.442A>C (p.Thr148Pro)
2	g.61031885A>G	CA346943868	PEX13	c.559A>G (p.Thr187Ala) c.442A>G (p.Thr148Ala)
2	g.61031885A>T	CA346943863	PEX13	c.559A>T (p.Thr187Ser) c.442A>T (p.Thr148Ser)
2	g.61031886C>A	CA346943871	PEX13	c.560C>A (p.Thr187Asn) c.443C>A (p.Thr148Asn)
2	g.61031886C>G	CA346943872	PEX13	c.560C>G (p.Thr187Ser) c.443C>G (p.Thr148Ser)
2	g.61031886C>T	CA346943874	PEX13	c.560C>T (p.Thr187Ile) c.443C>T (p.Thr148Ile)	gnomAD v4
2	g.61031887T>A	CA426411654	PEX13	c.561T>A (p.Thr187=) c.444T>A (p.Thr148=)	gnomAD v4 COSMIC
2	g.61031887T>C	CA426411656	PEX13	c.561T>C (p.Thr187=) c.444T>C (p.Thr148=)	ClinVar dbSNP
2	g.61031887T>G	CA426411655	PEX13	c.561T>G (p.Thr187=) c.444T>G (p.Thr148=)
2	g.61031887T=	CA1255168159	PEX13	c.561T= (p.Thr187=) c.444T= (p.Thr148=)
2	g.61031888A=	CA1255168161	PEX13	c.562A= (p.Ile188=) c.445A= (p.Ile149=)
2	g.61031888A>C	CA346943876	PEX13	c.562A>C (p.Ile188Leu) c.445A>C (p.Ile149Leu)	dbSNP gnomAD v4
2	g.61031888A>G	CA346943878	PEX13	c.562A>G (p.Ile188Val) c.445A>G (p.Ile149Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.61031888A>T	CA346943879	PEX13	c.562A>T (p.Ile188Leu) c.445A>T (p.Ile149Leu)
2	g.61031888_61031897delinsATACGGTATC	CA1255168160	PEX13	c.562_571delinsATACGGTATC (p.Ile188=) c.445_454delinsATACGGTATC (p.Ile149=)
2	g.61031889T>A	CA346943880	PEX13	c.563T>A (p.Ile188Lys) c.446T>A (p.Ile149Lys)
2	g.61031889T>C	CA346943881	PEX13	c.563T>C (p.Ile188Thr) c.446T>C (p.Ile149Thr)	ClinVar dbSNP
2	g.61031889T>G	CA346943882	PEX13	c.563T>G (p.Ile188Arg) c.446T>G (p.Ile149Arg)
2	g.61031890_61031898del	CA770851288	PEX13	c.564_572del (p.Arg189_Leu191del) c.447_455del (p.Arg150_Leu152del)	dbSNP
2	g.61031890A>C	CA426411661	PEX13	c.564A>C (p.Ile188=) c.447A>C (p.Ile149=)	ClinVar
2	g.61031890A>G	CA346943884	PEX13	c.564A>G (p.Ile188Met) c.447A>G (p.Ile149Met)
2	g.61031890A>T	CA426411659	PEX13	c.564A>T (p.Ile188=) c.447A>T (p.Ile149=)
2	g.61031891C>A	CA426411662	PEX13	c.565C>A (p.Arg189=) c.448C>A (p.Arg150=)	gnomAD v4
2	g.61031891C=	CA1255168162	PEX13	c.565C= (p.Arg189=) c.448C= (p.Arg150=)
2	g.61031891C>G	CA346943888	PEX13	c.565C>G (p.Arg189Gly) c.448C>G (p.Arg150Gly)
2	g.61031891C>T	CA1673311	PEX13	c.565C>T (p.Arg189Trp) c.448C>T (p.Arg150Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.61031892G>A	CA1673313	PEX13	c.566G>A (p.Arg189Gln) c.449G>A (p.Arg150Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031892G>C	CA346943889	PEX13	c.566G>C (p.Arg189Pro) c.449G>C (p.Arg150Pro)
2	g.61031892G=	CA1255168163	PEX13	c.566G= (p.Arg189=) c.449G= (p.Arg150=)
2	g.61031892G>T	CA1673312	PEX13	c.566G>T (p.Arg189Leu) c.449G>T (p.Arg150Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031893G>A	CA426411663	PEX13	c.567G>A (p.Arg189=) c.450G>A (p.Arg150=)	ClinVar
2	g.61031893G>C	CA426411666	PEX13	c.567G>C (p.Arg189=) c.450G>C (p.Arg150=)
2	g.61031893G>T	CA426411665	PEX13	c.567G>T (p.Arg189=) c.450G>T (p.Arg150=)
2	g.61031894T>A	CA346943893	PEX13	c.568T>A (p.Tyr190Asn) c.451T>A (p.Tyr151Asn)
2	g.61031894T>C	CA346943894	PEX13	c.568T>C (p.Tyr190His) c.451T>C (p.Tyr151His)	ClinVar dbSNP COSMIC
2	g.61031894T>G	CA346943898	PEX13	c.568T>G (p.Tyr190Asp) c.451T>G (p.Tyr151Asp)
2	g.61031895A=	CA1255168164	PEX13	c.569A= (p.Tyr190=) c.452A= (p.Tyr151=)
2	g.61031895A>C	CA346943900	PEX13	c.569A>C (p.Tyr190Ser) c.452A>C (p.Tyr151Ser)
2	g.61031895A>G	CA1673314	PEX13	c.569A>G (p.Tyr190Cys) c.452A>G (p.Tyr151Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031895A>T	CA346943906	PEX13	c.569A>T (p.Tyr190Phe) c.452A>T (p.Tyr151Phe)
2	g.61031896T>A	CA346943907	PEX13	c.570T>A (p.Tyr190Ter) c.453T>A (p.Tyr151Ter)
2	g.61031896T>C	CA426411667	PEX13	c.570T>C (p.Tyr190=) c.453T>C (p.Tyr151=)
2	g.61031896T>G	CA346943909	PEX13	c.570T>G (p.Tyr190Ter) c.453T>G (p.Tyr151Ter)
2	g.61031897C>A	CA346943911	PEX13	c.571C>A (p.Leu191Ile) c.454C>A (p.Leu152Ile)
2	g.61031897C>G	CA346943913	PEX13	c.571C>G (p.Leu191Val) c.454C>G (p.Leu152Val)
2	g.61031897C>T	CA346943914	PEX13	c.571C>T (p.Leu191Phe) c.454C>T (p.Leu152Phe)
2	g.61031898T>A	CA346943924	PEX13	c.572T>A (p.Leu191His) c.455T>A (p.Leu152His)
2	g.61031898T>C	CA346943922	PEX13	c.572T>C (p.Leu191Pro) c.455T>C (p.Leu152Pro)
2	g.61031898T>G	CA346943917	PEX13	c.572T>G (p.Leu191Arg) c.455T>G (p.Leu152Arg)
2	g.61031899_61031900del	CA2586969347	PEX13	c.573_574del (p.Tyr192GlnfsTer14) c.456_457del (p.Tyr153GlnfsTer14)
2	g.61031899T>A	CA426411669	PEX13	c.573T>A (p.Leu191=) c.456T>A (p.Leu152=)
2	g.61031899T>C	CA426411670	PEX13	c.573T>C (p.Leu191=) c.456T>C (p.Leu152=)
2	g.61031899T>G	CA426411671	PEX13	c.573T>G (p.Leu191=) c.456T>G (p.Leu152=)
2	g.61031899_61031908del	CA2582342397	PEX13	c.573_582del (p.Arg193SerfsTer4) c.456_465del (p.Arg154SerfsTer4)	ClinVar
2	g.61031900T>A	CA346943926	PEX13	c.574T>A (p.Tyr192Asn) c.457T>A (p.Tyr153Asn)
2	g.61031900T>C	CA346943930	PEX13	c.574T>C (p.Tyr192His) c.457T>C (p.Tyr153His)	dbSNP
2	g.61031900T>G	CA346943928	PEX13	c.574T>G (p.Tyr192Asp) c.457T>G (p.Tyr153Asp)
2	g.61031900T=	CA1255168165	PEX13	c.574T= (p.Tyr192=) c.457T= (p.Tyr153=)
2	g.61031901A>C	CA346943932	PEX13	c.575A>C (p.Tyr192Ser) c.458A>C (p.Tyr153Ser)
2	g.61031901A>G	CA346943933	PEX13	c.575A>G (p.Tyr192Cys) c.458A>G (p.Tyr153Cys)
2	g.61031901A>T	CA346943935	PEX13	c.575A>T (p.Tyr192Phe) c.458A>T (p.Tyr153Phe)
2	g.61031902C>A	CA346943937	PEX13	c.576C>A (p.Tyr192Ter) c.459C>A (p.Tyr153Ter)
2	g.61031902C=	CA1255168166	PEX13	c.576C= (p.Tyr192=) c.459C= (p.Tyr153=)
2	g.61031902C>G	CA346943939	PEX13	c.576C>G (p.Tyr192Ter) c.459C>G (p.Tyr153Ter)
2	g.61031902C>T	CA426411675	PEX13	c.576C>T (p.Tyr192=) c.459C>T (p.Tyr153=)	dbSNP gnomAD v2 gnomAD v4
2	g.61031903A>C	CA426411679	PEX13	c.577A>C (p.Arg193=) c.460A>C (p.Arg154=)
2	g.61031903A>G	CA346943941	PEX13	c.577A>G (p.Arg193Gly) c.460A>G (p.Arg154Gly)
2	g.61031903A>T	CA346943943	PEX13	c.577A>T (p.Arg193Ter) c.460A>T (p.Arg154Ter)
2	g.61031904G>A	CA346943945	PEX13	c.578G>A (p.Arg193Lys) c.461G>A (p.Arg154Lys)
2	g.61031904G>C	CA346943947	PEX13	c.578G>C (p.Arg193Thr) c.461G>C (p.Arg154Thr)
2	g.61031904G>T	CA346943949	PEX13	c.578G>T (p.Arg193Ile) c.461G>T (p.Arg154Ile)
2	g.61031905A>C	CA346943951	PEX13	c.579A>C (p.Arg193Ser) c.462A>C (p.Arg154Ser)
2	g.61031905A>G	CA426411680	PEX13	c.579A>G (p.Arg193=) c.462A>G (p.Arg154=)	ClinVar dbSNP
2	g.61031905A>T	CA346943953	PEX13	c.579A>T (p.Arg193Ser) c.462A>T (p.Arg154Ser)
2	g.61031906C>A	CA426411681	PEX13	c.580C>A (p.Arg194=) c.463C>A (p.Arg155=)	ClinVar dbSNP
2	g.61031906C=	CA1255168167	PEX13	c.580C= (p.Arg194=) c.463C= (p.Arg155=)
2	g.61031906C>G	CA346943955	PEX13	c.580C>G (p.Arg194Gly) c.463C>G (p.Arg155Gly)
2	g.61031906C>T	CA1673315	PEX13	c.580C>T (p.Arg194Trp) c.463C>T (p.Arg155Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031907G>A	CA1673316	PEX13	c.581G>A (p.Arg194Gln) c.464G>A (p.Arg155Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.61031907G>C	CA346943959	PEX13	c.581G>C (p.Arg194Pro) c.464G>C (p.Arg155Pro)	gnomAD v4
2	g.61031907G=	CA1255168168	PEX13	c.581G= (p.Arg194=) c.464G= (p.Arg155=)
2	g.61031907G>T	CA346943960	PEX13	c.581G>T (p.Arg194Leu) c.464G>T (p.Arg155Leu)	COSMIC
2	g.61031908G>A	CA426411685	PEX13	c.582G>A (p.Arg194=) c.465G>A (p.Arg155=)
2	g.61031908G>C	CA426411687	PEX13	c.582G>C (p.Arg194=) c.465G>C (p.Arg155=)
2	g.61031908G>T	CA426411686	PEX13	c.582G>T (p.Arg194=) c.465G>T (p.Arg155=)
2	g.61031909C>A	CA346943962	PEX13	c.583C>A (p.Leu195Ile) c.466C>A (p.Leu156Ile)
2	g.61031909C>G	CA346943963	PEX13	c.583C>G (p.Leu195Val) c.466C>G (p.Leu156Val)
2	g.61031909C>T	CA426411688	PEX13	c.583C>T (p.Leu195=) c.466C>T (p.Leu156=)
2	g.61031910T>A	CA346943966	PEX13	c.584T>A (p.Leu195Gln) c.467T>A (p.Leu156Gln)
2	g.61031910T>C	CA346943968	PEX13	c.584T>C (p.Leu195Pro) c.467T>C (p.Leu156Pro)
2	g.61031910T>G	CA346943969	PEX13	c.584T>G (p.Leu195Arg) c.467T>G (p.Leu156Arg)
2	g.61031911A>C	CA426411690	PEX13	c.585A>C (p.Leu195=) c.468A>C (p.Leu156=)
2	g.61031911A>G	CA426411691	PEX13	c.585A>G (p.Leu195=) c.468A>G (p.Leu156=)	ClinVar gnomAD v4
2	g.61031911A>T	CA426411692	PEX13	c.585A>T (p.Leu195=) c.468A>T (p.Leu156=)
2	g.61031912C>A	CA346943972	PEX13	c.586C>A (p.Gln196Lys) c.469C>A (p.Gln157Lys)
2	g.61031912C=	CA1255168169	PEX13	c.586C= (p.Gln196=) c.469C= (p.Gln157=)
2	g.61031912C>G	CA346943973	PEX13	c.586C>G (p.Gln196Glu) c.469C>G (p.Gln157Glu)
2	g.61031912C>T	CA346943974	PEX13	c.586C>T (p.Gln196Ter) c.469C>T (p.Gln157Ter)	ClinVar dbSNP
2	g.61031913A=	CA1255168170	PEX13	c.587A= (p.Gln196=) c.470A= (p.Gln157=)
2	g.61031913A>C	CA346943976	PEX13	c.587A>C (p.Gln196Pro) c.470A>C (p.Gln157Pro)
2	g.61031913A>G	CA1673317	PEX13	c.587A>G (p.Gln196Arg) c.470A>G (p.Gln157Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031913A>T	CA346943975	PEX13	c.587A>T (p.Gln196Leu) c.470A>T (p.Gln157Leu)
2	g.61031914G>A	CA426411694	PEX13	c.588G>A (p.Gln196=) c.471G>A (p.Gln157=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031914G>C	CA346943977	PEX13	c.588G>C (p.Gln196His) c.471G>C (p.Gln157His)
2	g.61031914G=	CA1255168171	PEX13	c.588G= (p.Gln196=) c.471G= (p.Gln157=)
2	g.61031914G>T	CA346943978	PEX13	c.588G>T (p.Gln196His) c.471G>T (p.Gln157His)
2	g.61031915C>A	CA426411695	PEX13	c.589C>A (p.Arg197=) c.472C>A (p.Arg158=)
2	g.61031915C=	CA1255168172	PEX13	c.589C= (p.Arg197=) c.472C= (p.Arg158=)
2	g.61031915C>G	CA346943979	PEX13	c.589C>G (p.Arg197Gly) c.472C>G (p.Arg158Gly)
2	g.61031915C>T	CA48342477	PEX13	c.589C>T (p.Arg197Trp) c.472C>T (p.Arg158Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.61031916G>A	CA1673318	PEX13	c.590G>A (p.Arg197Gln) c.473G>A (p.Arg158Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031916G>C	CA346943980	PEX13	c.590G>C (p.Arg197Pro) c.473G>C (p.Arg158Pro)
2	g.61031916G=	CA1255168173	PEX13	c.590G= (p.Arg197=) c.473G= (p.Arg158=)
2	g.61031916G>T	CA346943981	PEX13	c.590G>T (p.Arg197Leu) c.473G>T (p.Arg158Leu)
2	g.61031917G>A	CA426411699	PEX13	c.591G>A (p.Arg197=) c.474G>A (p.Arg158=)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.61031917G>C	CA426411700	PEX13	c.591G>C (p.Arg197=) c.474G>C (p.Arg158=)
2	g.61031917G>T	CA426411701	PEX13	c.591G>T (p.Arg197=) c.474G>T (p.Arg158=)
2	g.61031918A=	CA1255168174	PEX13	c.592A= (p.Met198=) c.475A= (p.Met159=)
2	g.61031918A>C	CA346943982	PEX13	c.592A>C (p.Met198Leu) c.475A>C (p.Met159Leu)
2	g.61031918A>G	CA346943983	PEX13	c.592A>G (p.Met198Val) c.475A>G (p.Met159Val)
2	g.61031918A>T	CA1673319	PEX13	c.592A>T (p.Met198Leu) c.475A>T (p.Met159Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031919T>A	CA346943984	PEX13	c.593T>A (p.Met198Lys) c.476T>A (p.Met159Lys)
2	g.61031919T>C	CA346943985	PEX13	c.593T>C (p.Met198Thr) c.476T>C (p.Met159Thr)
2	g.61031919T>G	CA346943986	PEX13	c.593T>G (p.Met198Arg) c.476T>G (p.Met159Arg)
2	g.61031920G>A	CA346943989	PEX13	c.594G>A (p.Met198Ile) c.477G>A (p.Met159Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.61031920G>C	CA346943988	PEX13	c.594G>C (p.Met198Ile) c.477G>C (p.Met159Ile)
2	g.61031920G=	CA1255168175	PEX13	c.594G= (p.Met198=) c.477G= (p.Met159=)
2	g.61031920G>T	CA346943987	PEX13	c.594G>T (p.Met198Ile) c.477G>T (p.Met159Ile)
2	g.61031921T>A	CA1673320	PEX13	c.595T>A (p.Leu199Ile) c.478T>A (p.Leu160Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031921T>C	CA426411705	PEX13	c.595T>C (p.Leu199=) c.478T>C (p.Leu160=)
2	g.61031921T>G	CA346943990	PEX13	c.595T>G (p.Leu199Val) c.478T>G (p.Leu160Val)	gnomAD v4
2	g.61031921T=	CA1255168176	PEX13	c.595T= (p.Leu199=) c.478T= (p.Leu160=)
2	g.61031922T>A	CA346943991	PEX13	c.596T>A (p.Leu199Ter) c.479T>A (p.Leu160Ter)
2	g.61031922T>C	CA346943992	PEX13	c.596T>C (p.Leu199Ser) c.479T>C (p.Leu160Ser)	gnomAD v4
2	g.61031922T>G	CA346943993	PEX13	c.596T>G (p.Leu199Ter) c.479T>G (p.Leu160Ter)	ClinVar
2	g.61031923A=	CA1255168177	PEX13	c.597A= (p.Leu199=) c.480A= (p.Leu160=)
2	g.61031923A>C	CA346943994	PEX13	c.597A>C (p.Leu199Phe) c.480A>C (p.Leu160Phe)
2	g.61031923A>G	CA426411708	PEX13	c.597A>G (p.Leu199=) c.480A>G (p.Leu160=)	dbSNP gnomAD v2
2	g.61031923A>T	CA346943995	PEX13	c.597A>T (p.Leu199Phe) c.480A>T (p.Leu160Phe)
2	g.61031924G>A	CA346943996	PEX13	c.598G>A (p.Gly200Ser) c.481G>A (p.Gly161Ser)
2	g.61031924G>C	CA346943997	PEX13	c.598G>C (p.Gly200Arg) c.481G>C (p.Gly161Arg)
2	g.61031924G>T	CA346943998	PEX13	c.598G>T (p.Gly200Cys) c.481G>T (p.Gly161Cys)
2	g.61031925G>A	CA1673321	PEX13	c.599G>A (p.Gly200Asp) c.482G>A (p.Gly161Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.61031925G>C	CA346943999	PEX13	c.599G>C (p.Gly200Ala) c.482G>C (p.Gly161Ala)	dbSNP
2	g.61031925G=	CA1255168178	PEX13	c.599G= (p.Gly200=) c.482G= (p.Gly161=)
2	g.61031925G>T	CA346944000	PEX13	c.599G>T (p.Gly200Val) c.482G>T (p.Gly161Val)
2	g.61031926T>A	CA426411712	PEX13	c.600T>A (p.Gly200=) c.483T>A (p.Gly161=)
2	g.61031926T>C	CA426411714	PEX13	c.600T>C (p.Gly200=) c.483T>C (p.Gly161=)
2	g.61031926T>G	CA426411715	PEX13	c.600T>G (p.Gly200=) c.483T>G (p.Gly161=)	dbSNP
2	g.61031926T=	CA1255168179	PEX13	c.600T= (p.Gly200=) c.483T= (p.Gly161=)
2	g.61031927T>A	CA346944001	PEX13	c.601T>A (p.Leu201Ile) c.484T>A (p.Leu162Ile)
2	g.61031927T>C	CA426411716	PEX13	c.601T>C (p.Leu201=) c.484T>C (p.Leu162=)
2	g.61031927T>G	CA1673322	PEX13	c.601T>G (p.Leu201Val) c.484T>G (p.Leu162Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.61031927T=	CA1255168180	PEX13	c.601T= (p.Leu201=) c.484T= (p.Leu162=)
2	g.61031928T>A	CA346944002	PEX13	c.602T>A (p.Leu201Ter) c.485T>A (p.Leu162Ter)
2	g.61031928T>C	CA346944005	PEX13	c.602T>C (p.Leu201Ser) c.485T>C (p.Leu162Ser)
2	g.61031928T>G	CA346944004	PEX13	c.602T>G (p.Leu201Ter) c.485T>G (p.Leu162Ter)
2	g.61031929A>C	CA346944007	PEX13	c.603A>C (p.Leu201Phe) c.486A>C (p.Leu162Phe)
2	g.61031929A>G	CA426411717	PEX13	c.603A>G (p.Leu201=) c.486A>G (p.Leu162=)
2	g.61031929A>T	CA346944009	PEX13	c.603A>T (p.Leu201Phe) c.486A>T (p.Leu162Phe)
2	g.61031933_61031935del	CA2659190625	PEX13	c.607_609del (p.Arg203del) c.490_492del (p.Arg164del)	gnomAD v4
2	g.61031930A=	CA1255168181	PEX13	c.604A= (p.Arg202=) c.487A= (p.Arg163=)
2	g.61031930A>C	CA426411719	PEX13	c.604A>C (p.Arg202=) c.487A>C (p.Arg163=)
2	g.61031930A>G	CA346944011	PEX13	c.604A>G (p.Arg202Gly) c.487A>G (p.Arg163Gly)
2	g.61031930A>T	CA346944013	PEX13	c.604A>T (p.Arg202Ter) c.487A>T (p.Arg163Ter)	dbSNP
2	g.61031931G>A	CA346944015	PEX13	c.605G>A (p.Arg202Lys) c.488G>A (p.Arg163Lys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.61031931G>C	CA346944017	PEX13	c.605G>C (p.Arg202Thr) c.488G>C (p.Arg163Thr)	gnomAD v4
2	g.61031931G=	CA1255168182	PEX13	c.605G= (p.Arg202=) c.488G= (p.Arg163=)
2	g.61031931G>T	CA346944019	PEX13	c.605G>T (p.Arg202Ile) c.488G>T (p.Arg163Ile)
2	g.61031932A>C	CA346944021	PEX13	c.606A>C (p.Arg202Ser) c.489A>C (p.Arg163Ser)
2	g.61031932A>G	CA426411720	PEX13	c.606A>G (p.Arg202=) c.489A>G (p.Arg163=)
2	g.61031932A>T	CA346944023	PEX13	c.606A>T (p.Arg202Ser) c.489A>T (p.Arg163Ser)
2	g.61031933A=	CA1255168183	PEX13	c.607A= (p.Arg203=) c.490A= (p.Arg164=)
2	g.61031933A>C	CA426411722	PEX13	c.607A>C (p.Arg203=) c.490A>C (p.Arg164=)
2	g.61031933A>G	CA1673323	PEX13	c.607A>G (p.Arg203Gly) c.490A>G (p.Arg164Gly)	dbSNP ExAC gnomAD v2
2	g.61031933A>T	CA346944026	PEX13	c.607A>T (p.Arg203Ter) c.490A>T (p.Arg164Ter)
2	g.61031934G>A	CA346944028	PEX13	c.608G>A (p.Arg203Lys) c.491G>A (p.Arg164Lys)
2	g.61031934G>C	CA346944030	PEX13	c.608G>C (p.Arg203Thr) c.491G>C (p.Arg164Thr)
2	g.61031934G>T	CA346944032	PEX13	c.608G>T (p.Arg203Ile) c.491G>T (p.Arg164Ile)
2	g.61031935A>C	CA346944036	PEX13	c.609A>C (p.Arg203Ser) c.492A>C (p.Arg164Ser)
2	g.61031935A>G	CA426411723	PEX13	c.609A>G (p.Arg203=) c.492A>G (p.Arg164=)
2	g.61031935A>T	CA346944034	PEX13	c.609A>T (p.Arg203Ser) c.492A>T (p.Arg164Ser)

Number of alleles fetched