| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136898142_136898241del | CA2695207084 | PEX7 | c.804_903del c.*69_*168del c.492_591del c.690_789del c.684_783del c.510_609del c.527_*26del | |
| 6 | g.136898142A>C | CA365766521 | PEX7 | c.804A>C (p.Arg268Ser) c.*69A>C (n.*69A>C) c.492A>C c.690A>C (p.Arg230Ser) c.684A>C (p.Arg228Ser) c.510A>C (p.Arg170Ser) c.527A>C (p.Asp176Ala) | |
| 6 | g.136898142A>G | CA452231773 | PEX7 | c.804A>G (p.Arg268=) c.*69A>G (n.*69A>G) c.492A>G c.690A>G (p.Arg230=) c.684A>G (p.Arg228=) c.510A>G (p.Arg170=) c.527A>G (p.Asp176Gly) | gnomAD v4 |
| 6 | g.136898142A>T | CA365766522 | PEX7 | c.804A>T (p.Arg268Ser) c.*69A>T (n.*69A>T) c.492A>T c.690A>T (p.Arg230Ser) c.684A>T (p.Arg228Ser) c.510A>T (p.Arg170Ser) c.527A>T (p.Asp176Val) | |
| 6 | g.136898142dup | CA913109572 | PEX7 | c.804dup (p.Phe269IlefsTer8) c.*69dup (n.*69dup) c.492dup c.690dup (p.Phe231IlefsTer8) c.684dup (p.Phe229IlefsTer8) c.510dup (p.Phe171IlefsTer8) c.527dup (p.Asp176GlufsTer?) | |
| 6 | g.136898143T>A | CA365766523 | PEX7 | c.805T>A (p.Phe269Ile) c.*70T>A (n.*70T>A) c.493T>A c.691T>A (p.Phe231Ile) c.685T>A (p.Phe229Ile) c.511T>A (p.Phe171Ile) c.528T>A (p.Asp176Glu) | |
| 6 | g.136898143T>C | CA365766524 | PEX7 | c.805T>C (p.Phe269Leu) c.*70T>C (n.*70T>C) c.493T>C c.691T>C (p.Phe231Leu) c.685T>C (p.Phe229Leu) c.511T>C (p.Phe171Leu) c.528T>C (p.Asp176=) | |
| 6 | g.136898143T>G | CA365766525 | PEX7 | c.805T>G (p.Phe269Val) c.*70T>G (n.*70T>G) c.493T>G c.691T>G (p.Phe231Val) c.685T>G (p.Phe229Val) c.511T>G (p.Phe171Val) c.528T>G (p.Asp176Glu) | |
| 6 | g.136898144dup | CA658823308 | PEX7 | c.806dup (p.Trp270LeufsTer7) c.*71dup (n.*71dup) c.494dup c.692dup (p.Trp232LeufsTer7) c.686dup (p.Trp230LeufsTer7) c.512dup (p.Trp172LeufsTer7) c.529dup (p.Ser177PhefsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898144T>A | CA365766526 | PEX7 | c.806T>A (p.Phe269Tyr) c.*71T>A (n.*71T>A) c.494T>A c.692T>A (p.Phe231Tyr) c.686T>A (p.Phe229Tyr) c.512T>A (p.Phe171Tyr) c.529T>A (p.Ser177Thr) | |
| 6 | g.136898144T>C | CA365766528 | PEX7 | c.806T>C (p.Phe269Ser) c.*71T>C (n.*71T>C) c.494T>C c.692T>C (p.Phe231Ser) c.686T>C (p.Phe229Ser) c.512T>C (p.Phe171Ser) c.529T>C (p.Ser177Pro) | |
| 6 | g.136898144T>G | CA365766527 | PEX7 | c.806T>G (p.Phe269Cys) c.*71T>G (n.*71T>G) c.494T>G c.692T>G (p.Phe231Cys) c.686T>G (p.Phe229Cys) c.512T>G (p.Phe171Cys) c.529T>G (p.Ser177Ala) | |
| 6 | g.136898145C>A | CA148218719 | PEX7 | c.807C>A (p.Phe269Leu) c.*72C>A (n.*72C>A) c.495C>A c.693C>A (p.Phe231Leu) c.687C>A (p.Phe229Leu) c.513C>A (p.Phe171Leu) c.530C>A (p.Ser177Tyr) | dbSNP gnomAD v4 |
| 6 | g.136898145C>G | CA365766529 | PEX7 | c.807C>G (p.Phe269Leu) c.*72C>G (n.*72C>G) c.495C>G c.693C>G (p.Phe231Leu) c.687C>G (p.Phe229Leu) c.513C>G (p.Phe171Leu) c.530C>G (p.Ser177Cys) | |
| 6 | g.136898145C>T | CA452231774 | PEX7 | c.807C>T (p.Phe269=) c.*72C>T (n.*72C>T) c.495C>T c.693C>T (p.Phe231=) c.687C>T (p.Phe229=) c.513C>T (p.Phe171=) c.530C>T (p.Ser177Phe) | gnomAD v4 |
| 6 | g.136898146T>A | CA365766530 | PEX7 | c.808T>A (p.Trp270Arg) c.*73T>A (n.*73T>A) c.496T>A c.694T>A (p.Trp232Arg) c.688T>A (p.Trp230Arg) c.514T>A (p.Trp172Arg) c.531T>A (p.Ser177=) | |
| 6 | g.136898146T>C | CA365766531 | PEX7 | c.808T>C (p.Trp270Arg) c.*73T>C (n.*73T>C) c.496T>C c.694T>C (p.Trp232Arg) c.688T>C (p.Trp230Arg) c.514T>C (p.Trp172Arg) c.531T>C (p.Ser177=) | gnomAD v4 |
| 6 | g.136898146T>G | CA365766532 | PEX7 | c.808T>G (p.Trp270Gly) c.*73T>G (n.*73T>G) c.496T>G c.694T>G (p.Trp232Gly) c.688T>G (p.Trp230Gly) c.514T>G (p.Trp172Gly) c.531T>G (p.Ser177=) | |
| 6 | g.136898147G>A | CA365766533 | PEX7 | c.809G>A (p.Trp270Ter) c.*74G>A (n.*74G>A) c.497G>A c.695G>A (p.Trp232Ter) c.689G>A (p.Trp230Ter) c.515G>A (p.Trp172Ter) c.532G>A (p.Gly178Arg) | dbSNP |
| 6 | g.136898147G>C | CA365766534 | PEX7 | c.809G>C (p.Trp270Ser) c.*74G>C (n.*74G>C) c.497G>C c.695G>C (p.Trp232Ser) c.689G>C (p.Trp230Ser) c.515G>C (p.Trp172Ser) c.532G>C (p.Gly178Arg) | |
| 6 | g.136898147G>T | CA365766535 | PEX7 | c.809G>T (p.Trp270Leu) c.*74G>T (n.*74G>T) c.497G>T c.695G>T (p.Trp232Leu) c.689G>T (p.Trp230Leu) c.515G>T (p.Trp172Leu) c.532G>T (p.Gly178Ter) | |
| 6 | g.136898148del | CA2578751939 | PEX7 | c.810del (p.Trp270Ter) c.*75del (n.*75del) c.498del c.696del (p.Trp232Ter) c.690del (p.Trp230Ter) c.516del (p.Trp172Ter) c.533del (p.Gly178GlufsTer6) | gnomAD v4 |
| 6 | g.136898148G>A | CA365766536 | PEX7 | c.810G>A (p.Trp270Ter) c.*75G>A (n.*75G>A) c.498G>A c.696G>A (p.Trp232Ter) c.690G>A (p.Trp230Ter) c.516G>A (p.Trp172Ter) c.533G>A (p.Gly178Glu) | |
| 6 | g.136898148G>C | CA365766537 | PEX7 | c.810G>C (p.Trp270Cys) c.*75G>C (n.*75G>C) c.498G>C c.696G>C (p.Trp232Cys) c.690G>C (p.Trp230Cys) c.516G>C (p.Trp172Cys) c.533G>C (p.Gly178Ala) | |
| 6 | g.136898148G>T | CA365766538 | PEX7 | c.810G>T (p.Trp270Cys) c.*75G>T (n.*75G>T) c.498G>T c.696G>T (p.Trp232Cys) c.690G>T (p.Trp230Cys) c.516G>T (p.Trp172Cys) c.533G>T (p.Gly178Val) | |
| 6 | g.136898149A>C | CA365766541 | PEX7 | c.811A>C (p.Asn271His) c.*76A>C (n.*76A>C) c.499A>C c.697A>C (p.Asn233His) c.691A>C (p.Asn231His) c.517A>C (p.Asn173His) c.534A>C (p.Gly178=) | |
| 6 | g.136898149A>G | CA365766540 | PEX7 | c.811A>G (p.Asn271Asp) c.*76A>G (n.*76A>G) c.499A>G c.697A>G (p.Asn233Asp) c.691A>G (p.Asn231Asp) c.517A>G (p.Asn173Asp) c.534A>G (p.Gly178=) | gnomAD v4 |
| 6 | g.136898149A>T | CA365766539 | PEX7 | c.811A>T (p.Asn271Tyr) c.*76A>T (n.*76A>T) c.499A>T c.697A>T (p.Asn233Tyr) c.691A>T (p.Asn231Tyr) c.517A>T (p.Asn173Tyr) c.534A>T (p.Gly178=) | |
| 6 | g.136898150A>C | CA365766543 | PEX7 | c.812A>C (p.Asn271Thr) c.*77A>C (n.*77A>C) c.500A>C c.698A>C (p.Asn233Thr) c.692A>C (p.Asn231Thr) c.518A>C (p.Asn173Thr) c.535A>C (p.Thr179Pro) | |
| 6 | g.136898150A>G | CA365766542 | PEX7 | c.812A>G (p.Asn271Ser) c.*77A>G (n.*77A>G) c.500A>G c.698A>G (p.Asn233Ser) c.692A>G (p.Asn231Ser) c.518A>G (p.Asn173Ser) c.535A>G (p.Thr179Ala) | |
| 6 | g.136898150A>T | CA365766544 | PEX7 | c.812A>T (p.Asn271Ile) c.*77A>T (n.*77A>T) c.500A>T c.698A>T (p.Asn233Ile) c.692A>T (p.Asn231Ile) c.518A>T (p.Asn173Ile) c.535A>T (p.Thr179Ser) | |
| 6 | g.136898151C>A | CA365766545 | PEX7 | c.813C>A (p.Asn271Lys) c.*78C>A (n.*78C>A) c.501C>A c.699C>A (p.Asn233Lys) c.693C>A (p.Asn231Lys) c.519C>A (p.Asn173Lys) c.536C>A (p.Thr179Asn) | gnomAD v4 |
| 6 | g.136898151C>G | CA365766546 | PEX7 | c.813C>G (p.Asn271Lys) c.*78C>G (n.*78C>G) c.501C>G c.699C>G (p.Asn233Lys) c.693C>G (p.Asn231Lys) c.519C>G (p.Asn173Lys) c.536C>G (p.Thr179Ser) | |
| 6 | g.136898151C>T | CA452231775 | PEX7 | c.813C>T (p.Asn271=) c.*78C>T (n.*78C>T) c.501C>T c.699C>T (p.Asn233=) c.693C>T (p.Asn231=) c.519C>T (p.Asn173=) c.536C>T (p.Thr179Ile) | ClinVar dbSNP |
| 6 | g.136898151_136898152del | CA913109573 | PEX7 | c.813_814del (p.Ser273LysfsTer3) c.*78_*79del (n.*78_*79del) c.501_502del c.699_700del (p.Ser235LysfsTer3) c.693_694del (p.Ser233LysfsTer3) c.519_520del (p.Ser175LysfsTer3) c.536_537del (p.Thr179IlefsTer?) | |
| 6 | g.136898152T>A | CA365766547 | PEX7 | c.814T>A (p.Phe272Ile) c.*79T>A (n.*79T>A) c.502T>A c.700T>A (p.Phe234Ile) c.694T>A (p.Phe232Ile) c.520T>A (p.Phe174Ile) c.537T>A (p.Thr179=) | |
| 6 | g.136898152T>C | CA365766548 | PEX7 | c.814T>C (p.Phe272Leu) c.*79T>C (n.*79T>C) c.502T>C c.700T>C (p.Phe234Leu) c.694T>C (p.Phe232Leu) c.520T>C (p.Phe174Leu) c.537T>C (p.Thr179=) | |
| 6 | g.136898152T>G | CA365766549 | PEX7 | c.814T>G (p.Phe272Val) c.*79T>G (n.*79T>G) c.502T>G c.700T>G (p.Phe234Val) c.694T>G (p.Phe232Val) c.520T>G (p.Phe174Val) c.537T>G (p.Thr179=) | |
| 6 | g.136898155del | CA658823309 | PEX7 | c.817del (p.Ser273GlnfsTer20) c.*82del (n.*82del) c.505del c.703del (p.Ser235GlnfsTer20) c.697del (p.Ser233GlnfsTer20) c.523del (p.Ser175GlnfsTer20) c.540del (p.Gln181LysfsTer3) | ClinVar dbSNP |
| 6 | g.136898153T>A | CA365766550 | PEX7 | c.815T>A (p.Phe272Tyr) c.*80T>A (n.*80T>A) c.503T>A c.701T>A (p.Phe234Tyr) c.695T>A (p.Phe232Tyr) c.521T>A (p.Phe174Tyr) c.538T>A (p.Phe180Ile) | |
| 6 | g.136898153T>C | CA365766551 | PEX7 | c.815T>C (p.Phe272Ser) c.*80T>C (n.*80T>C) c.503T>C c.701T>C (p.Phe234Ser) c.695T>C (p.Phe232Ser) c.521T>C (p.Phe174Ser) c.538T>C (p.Phe180Leu) | |
| 6 | g.136898153T>G | CA365766552 | PEX7 | c.815T>G (p.Phe272Cys) c.*80T>G (n.*80T>G) c.503T>G c.701T>G (p.Phe234Cys) c.695T>G (p.Phe232Cys) c.521T>G (p.Phe174Cys) c.538T>G (p.Phe180Val) | |
| 6 | g.136898154T>A | CA365766553 | PEX7 | c.816T>A (p.Phe272Leu) c.*81T>A (n.*81T>A) c.504T>A c.702T>A (p.Phe234Leu) c.696T>A (p.Phe232Leu) c.522T>A (p.Phe174Leu) c.539T>A (p.Phe180Tyr) | |
| 6 | g.136898154T>C | CA452231776 | PEX7 | c.816T>C (p.Phe272=) c.*81T>C (n.*81T>C) c.504T>C c.702T>C (p.Phe234=) c.696T>C (p.Phe232=) c.522T>C (p.Phe174=) c.539T>C (p.Phe180Ser) | |
| 6 | g.136898154T>G | CA365766554 | PEX7 | c.816T>G (p.Phe272Leu) c.*81T>G (n.*81T>G) c.504T>G c.702T>G (p.Phe234Leu) c.696T>G (p.Phe232Leu) c.522T>G (p.Phe174Leu) c.539T>G (p.Phe180Cys) | |
| 6 | g.136898155T>A | CA365766555 | PEX7 | c.817T>A (p.Ser273Thr) c.*82T>A (n.*82T>A) c.505T>A c.703T>A (p.Ser235Thr) c.697T>A (p.Ser233Thr) c.523T>A (p.Ser175Thr) c.540T>A (p.Phe180Leu) | |
| 6 | g.136898155T>C | CA365766556 | PEX7 | c.817T>C (p.Ser273Pro) c.*82T>C (n.*82T>C) c.505T>C c.703T>C (p.Ser235Pro) c.697T>C (p.Ser233Pro) c.523T>C (p.Ser175Pro) c.540T>C (p.Phe180=) | |
| 6 | g.136898155T>G | CA365766557 | PEX7 | c.817T>G (p.Ser273Ala) c.*82T>G (n.*82T>G) c.505T>G c.703T>G (p.Ser235Ala) c.697T>G (p.Ser233Ala) c.523T>G (p.Ser175Ala) c.540T>G (p.Phe180Leu) | |
| 6 | g.136898156C>A | CA365766560 | PEX7 | c.818C>A (p.Ser273Ter) c.*83C>A (n.*83C>A) c.506C>A c.704C>A (p.Ser235Ter) c.698C>A (p.Ser233Ter) c.524C>A (p.Ser175Ter) c.541C>A (p.Gln181Lys) | |
| 6 | g.136898156C>G | CA365766558 | PEX7 | c.818C>G (p.Ser273Ter) c.*83C>G (n.*83C>G) c.506C>G c.704C>G (p.Ser235Ter) c.698C>G (p.Ser233Ter) c.524C>G (p.Ser175Ter) c.541C>G (p.Gln181Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |