Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.61031936G>A | CA346944037 | PEX13 | c.610G>A (p.Gly204Ser) c.493G>A (p.Gly165Ser) | ClinVar dbSNP |
2 | g.61031936G>C | CA346944039 | PEX13 | c.610G>C (p.Gly204Arg) c.493G>C (p.Gly165Arg) | |
2 | g.61031936G>T | CA346944040 | PEX13 | c.610G>T (p.Gly204Cys) c.493G>T (p.Gly165Cys) | |
2 | g.61031937G>A | CA1673324 | PEX13 | c.611G>A (p.Gly204Asp) c.494G>A (p.Gly165Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.61031937G>C | CA346944043 | PEX13 | c.611G>C (p.Gly204Ala) c.494G>C (p.Gly165Ala) | ClinVar gnomAD v4 |
2 | g.61031937G= | CA1255168184 | PEX13 | c.611G= (p.Gly204=) c.494G= (p.Gly165=) | |
2 | g.61031937G>T | CA346944045 | PEX13 | c.611G>T (p.Gly204Val) c.494G>T (p.Gly165Val) |