| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136872202_136872205del | CA570574070 | PEX7 | c.752_755del (p.Ser251TyrfsTer16) c.*17_*20del (n.*17_*20del) c.440_443del c.638_641del (p.Ser213TyrfsTer16) c.757_760del (n.757_760del) c.632_635del (p.Ser211TyrfsTer16) c.458_461del (p.Ser153TyrfsTer16) c.527-25940_527-25937del (n.527-25940_527-25937del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872202_136872206del | CA570574068 | PEX7 | c.752_756del (p.Ser251PhefsTer12) c.*17_*21del (n.*17_*21del) c.440_444del c.638_642del (p.Ser213PhefsTer12) c.757_761del (n.757_761del) c.632_636del (p.Ser211PhefsTer12) c.458_462del (p.Ser153PhefsTer12) c.527-25940_527-25936del (n.527-25940_527-25936del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872204_136872206del | CA1094890247 | PEX7 | c.754_756del (p.Pro252del) c.*19_*21del (n.*19_*21del) c.442_444del c.640_642del (p.Pro214del) c.759_761del (n.759_761del) c.634_636del (p.Pro212del) c.460_462del (p.Pro154del) c.527-25938_527-25936del (n.527-25938_527-25936del) | gnomAD v3 gnomAD v4 |
| 6 | g.136872204C>A | CA365764396 | PEX7 | c.754C>A (p.Pro252Thr) c.*19C>A (n.*19C>A) c.442C>A c.640C>A (p.Pro214Thr) c.759C>A (n.759C>A) c.634C>A (p.Pro212Thr) c.460C>A (p.Pro154Thr) c.527-25938C>A (n.527-25938C>A) | gnomAD v4 |
| 6 | g.136872204C>G | CA365764397 | PEX7 | c.754C>G (p.Pro252Ala) c.*19C>G (n.*19C>G) c.442C>G c.640C>G (p.Pro214Ala) c.759C>G (n.759C>G) c.634C>G (p.Pro212Ala) c.460C>G (p.Pro154Ala) c.527-25938C>G (n.527-25938C>G) | |
| 6 | g.136872204C>T | CA148202569 | PEX7 | c.754C>T (p.Pro252Ser) c.*19C>T (n.*19C>T) c.442C>T c.640C>T (p.Pro214Ser) c.759C>T (n.759C>T) c.634C>T (p.Pro212Ser) c.460C>T (p.Pro154Ser) c.527-25938C>T (n.527-25938C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872205C>A | CA365764398 | PEX7 | c.755C>A (p.Pro252Gln) c.*20C>A (n.*20C>A) c.443C>A c.641C>A (p.Pro214Gln) c.760C>A (n.760C>A) c.635C>A (p.Pro212Gln) c.461C>A (p.Pro154Gln) c.527-25937C>A (n.527-25937C>A) | gnomAD v4 |
| 6 | g.136872205C>G | CA365764399 | PEX7 | c.755C>G (p.Pro252Arg) c.*20C>G (n.*20C>G) c.443C>G c.641C>G (p.Pro214Arg) c.760C>G (n.760C>G) c.635C>G (p.Pro212Arg) c.461C>G (p.Pro154Arg) c.527-25937C>G (n.527-25937C>G) | |
| 6 | g.136872205C>T | CA365764400 | PEX7 | c.755C>T (p.Pro252Leu) c.*20C>T (n.*20C>T) c.443C>T c.641C>T (p.Pro214Leu) c.760C>T (n.760C>T) c.635C>T (p.Pro212Leu) c.461C>T (p.Pro154Leu) c.527-25937C>T (n.527-25937C>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872206A>C | CA452228772 | PEX7 | c.756A>C (p.Pro252=) c.*21A>C (n.*21A>C) c.444A>C c.642A>C (p.Pro214=) c.761A>C (n.761A>C) c.636A>C (p.Pro212=) c.462A>C (p.Pro154=) c.527-25936A>C (n.527-25936A>C) | |
| 6 | g.136872206A>G | CA452228773 | PEX7 | c.756A>G (p.Pro252=) c.*21A>G (n.*21A>G) c.444A>G c.642A>G (p.Pro214=) c.761A>G (n.761A>G) c.636A>G (p.Pro212=) c.462A>G (p.Pro154=) c.527-25936A>G (n.527-25936A>G) | |
| 6 | g.136872206A>T | CA452228774 | PEX7 | c.756A>T (p.Pro252=) c.*21A>T (n.*21A>T) c.444A>T c.642A>T (p.Pro214=) c.761A>T (n.761A>T) c.636A>T (p.Pro212=) c.462A>T (p.Pro154=) c.527-25936A>T (n.527-25936A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872207T>A | CA365764401 | PEX7 | c.757T>A (p.Phe253Ile) c.*22T>A (n.*22T>A) c.445T>A c.643T>A (p.Phe215Ile) c.762T>A (n.762T>A) c.637T>A (p.Phe213Ile) c.463T>A (p.Phe155Ile) c.527-25935T>A (n.527-25935T>A) | |
| 6 | g.136872207T>C | CA365764402 | PEX7 | c.757T>C (p.Phe253Leu) c.*22T>C (n.*22T>C) c.445T>C c.643T>C (p.Phe215Leu) c.762T>C (n.762T>C) c.637T>C (p.Phe213Leu) c.463T>C (p.Phe155Leu) c.527-25935T>C (n.527-25935T>C) | |
| 6 | g.136872207T>G | CA365764403 | PEX7 | c.757T>G (p.Phe253Val) c.*22T>G (n.*22T>G) c.445T>G c.643T>G (p.Phe215Val) c.762T>G (n.762T>G) c.637T>G (p.Phe213Val) c.463T>G (p.Phe155Val) c.527-25935T>G (n.527-25935T>G) | |
| 6 | g.136872208T>A | CA365764406 | PEX7 | c.758T>A (p.Phe253Tyr) c.*23T>A (n.*23T>A) c.446T>A c.644T>A (p.Phe215Tyr) c.763T>A (n.763T>A) c.638T>A (p.Phe213Tyr) c.464T>A (p.Phe155Tyr) c.527-25934T>A (n.527-25934T>A) | |
| 6 | g.136872208T>C | CA365764405 | PEX7 | c.758T>C (p.Phe253Ser) c.*23T>C (n.*23T>C) c.446T>C c.644T>C (p.Phe215Ser) c.763T>C (n.763T>C) c.638T>C (p.Phe213Ser) c.464T>C (p.Phe155Ser) c.527-25934T>C (n.527-25934T>C) | gnomAD v4 |
| 6 | g.136872208T>G | CA365764404 | PEX7 | c.758T>G (p.Phe253Cys) c.*23T>G (n.*23T>G) c.446T>G c.644T>G (p.Phe215Cys) c.763T>G (n.763T>G) c.638T>G (p.Phe213Cys) c.464T>G (p.Phe155Cys) c.527-25934T>G (n.527-25934T>G) | |
| 6 | g.136872209T>A | CA365764408 | PEX7 | c.759T>A (p.Phe253Leu) c.*24T>A (n.*24T>A) c.447T>A c.645T>A (p.Phe215Leu) c.764T>A (n.764T>A) c.639T>A (p.Phe213Leu) c.465T>A (p.Phe155Leu) c.527-25933T>A (n.527-25933T>A) | |
| 6 | g.136872209T>C | CA452228775 | PEX7 | c.759T>C (p.Phe253=) c.*24T>C (n.*24T>C) c.447T>C c.645T>C (p.Phe215=) c.764T>C (n.764T>C) c.639T>C (p.Phe213=) c.465T>C (p.Phe155=) c.527-25933T>C (n.527-25933T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872209T>G | CA365764407 | PEX7 | c.759T>G (p.Phe253Leu) c.*24T>G (n.*24T>G) c.447T>G c.645T>G (p.Phe215Leu) c.764T>G (n.764T>G) c.639T>G (p.Phe213Leu) c.465T>G (p.Phe155Leu) c.527-25933T>G (n.527-25933T>G) | |
| 6 | g.136872210C>A | CA365764411 | PEX7 | c.760C>A (p.His254Asn) c.*25C>A (n.*25C>A) c.448C>A c.646C>A (p.His216Asn) c.765C>A (n.765C>A) c.640C>A (p.His214Asn) c.466C>A (p.His156Asn) c.527-25932C>A (n.527-25932C>A) | gnomAD v4 |
| 6 | g.136872210C>G | CA365764409 | PEX7 | c.760C>G (p.His254Asp) c.*25C>G (n.*25C>G) c.448C>G c.646C>G (p.His216Asp) c.765C>G (n.765C>G) c.640C>G (p.His214Asp) c.466C>G (p.His156Asp) c.527-25932C>G (n.527-25932C>G) | |
| 6 | g.136872210C>T | CA365764410 | PEX7 | c.760C>T (p.His254Tyr) c.*25C>T (n.*25C>T) c.448C>T c.646C>T (p.His216Tyr) c.765C>T (n.765C>T) c.640C>T (p.His214Tyr) c.466C>T (p.His156Tyr) c.527-25932C>T (n.527-25932C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.136872210_136872214del | CA2680490725 | PEX7 | c.760_764del (p.His254PhefsTer9) c.*25_*29del (n.*25_*29del) c.448_452del c.646_650del (p.His216PhefsTer9) c.765_769del (n.765_769del) c.640_644del (p.His214PhefsTer9) c.466_470del (p.His156PhefsTer9) c.527-25932_527-25928del (n.527-25932_527-25928del) | gnomAD v4 |
| 6 | g.136872211A>C | CA365764412 | PEX7 | c.761A>C (p.His254Pro) c.*26A>C (n.*26A>C) c.449A>C c.647A>C (p.His216Pro) c.766A>C (n.766A>C) c.641A>C (p.His214Pro) c.467A>C (p.His156Pro) c.527-25931A>C (n.527-25931A>C) | gnomAD v4 |
| 6 | g.136872211A>G | CA365764413 | PEX7 | c.761A>G (p.His254Arg) c.*26A>G (n.*26A>G) c.449A>G c.647A>G (p.His216Arg) c.766A>G (n.766A>G) c.641A>G (p.His214Arg) c.467A>G (p.His156Arg) c.527-25931A>G (n.527-25931A>G) | |
| 6 | g.136872211A>T | CA365764414 | PEX7 | c.761A>T (p.His254Leu) c.*26A>T (n.*26A>T) c.449A>T c.647A>T (p.His216Leu) c.766A>T (n.766A>T) c.641A>T (p.His214Leu) c.467A>T (p.His156Leu) c.527-25931A>T (n.527-25931A>T) | gnomAD v4 |
| 6 | g.136872212T>A | CA365764415 | PEX7 | c.762T>A (p.His254Gln) c.*27T>A (n.*27T>A) c.450T>A c.648T>A (p.His216Gln) c.767T>A (n.767T>A) c.642T>A (p.His214Gln) c.468T>A (p.His156Gln) c.527-25930T>A (n.527-25930T>A) | |
| 6 | g.136872212T>C | CA452228776 | PEX7 | c.762T>C (p.His254=) c.*27T>C (n.*27T>C) c.450T>C c.648T>C (p.His216=) c.767T>C (n.767T>C) c.642T>C (p.His214=) c.468T>C (p.His156=) c.527-25930T>C (n.527-25930T>C) | |
| 6 | g.136872212T>G | CA365764416 | PEX7 | c.762T>G (p.His254Gln) c.*27T>G (n.*27T>G) c.450T>G c.648T>G (p.His216Gln) c.767T>G (n.767T>G) c.642T>G (p.His214Gln) c.468T>G (p.His156Gln) c.527-25930T>G (n.527-25930T>G) | |
| 6 | g.136872212_136872213insAAACATTATAATAAATTTAA | CA1094890252 | PEX7 | c.762_763insAAACATTATAATAAATTTAA (p.Ala255LysfsTer20) c.*27_*28insAAACATTATAATAAATTTAA (n.*27_*28insAAACATTATAATAAATTTAA) c.450_451insAAACATTATAATAAATTTAA c.648_649insAAACATTATAATAAATTTAA (p.Ala217LysfsTer20) c.767_768insAAACATTATAATAAATTTAA (n.767_768insAAACATTATAATAAATTTAA) c.642_643insAAACATTATAATAAATTTAA (p.Ala215LysfsTer20) c.468_469insAAACATTATAATAAATTTAA (p.Ala157LysfsTer20) c.527-25930_527-25929insAAACATTATAATAAATTTAA (n.527-25930_527-25929insAAACATTATAATAAATTTAA) | gnomAD v3 gnomAD v4 |
| 6 | g.136872213G>A | CA365764417 | PEX7 | c.763G>A (p.Ala255Thr) c.*28G>A (n.*28G>A) c.451G>A c.649G>A (p.Ala217Thr) c.768G>A (n.768G>A) c.643G>A (p.Ala215Thr) c.469G>A (p.Ala157Thr) c.527-25929G>A (n.527-25929G>A) | gnomAD v4 |
| 6 | g.136872213G>C | CA365764418 | PEX7 | c.763G>C (p.Ala255Pro) c.*28G>C (n.*28G>C) c.451G>C c.649G>C (p.Ala217Pro) c.768G>C (n.768G>C) c.643G>C (p.Ala215Pro) c.469G>C (p.Ala157Pro) c.527-25929G>C (n.527-25929G>C) | |
| 6 | g.136872213G>T | CA365764419 | PEX7 | c.763G>T (p.Ala255Ser) c.*28G>T (n.*28G>T) c.451G>T c.649G>T (p.Ala217Ser) c.768G>T (n.768G>T) c.643G>T (p.Ala215Ser) c.469G>T (p.Ala157Ser) c.527-25929G>T (n.527-25929G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872214C>A | CA365764420 | PEX7 | c.764C>A (p.Ala255Asp) c.*29C>A (n.*29C>A) c.452C>A c.650C>A (p.Ala217Asp) c.769C>A (n.769C>A) c.644C>A (p.Ala215Asp) c.470C>A (p.Ala157Asp) c.527-25928C>A (n.527-25928C>A) | gnomAD v4 |
| 6 | g.136872214C>G | CA365764421 | PEX7 | c.764C>G (p.Ala255Gly) c.*29C>G (n.*29C>G) c.452C>G c.650C>G (p.Ala217Gly) c.769C>G (n.769C>G) c.644C>G (p.Ala215Gly) c.470C>G (p.Ala157Gly) c.527-25928C>G (n.527-25928C>G) | |
| 6 | g.136872214C>T | CA148202575 | PEX7 | c.764C>T (p.Ala255Val) c.*29C>T (n.*29C>T) c.452C>T c.650C>T (p.Ala217Val) c.769C>T (n.769C>T) c.644C>T (p.Ala215Val) c.470C>T (p.Ala157Val) c.527-25928C>T (n.527-25928C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872215T>A | CA452228777 | PEX7 | c.765T>A (p.Ala255=) c.*30T>A (n.*30T>A) c.453T>A c.651T>A (p.Ala217=) c.770T>A (n.770T>A) c.645T>A (p.Ala215=) c.471T>A (p.Ala157=) c.527-25927T>A (n.527-25927T>A) | gnomAD v4 |
| 6 | g.136872215T>C | CA452228778 | PEX7 | c.765T>C (p.Ala255=) c.*30T>C (n.*30T>C) c.453T>C c.651T>C (p.Ala217=) c.770T>C (n.770T>C) c.645T>C (p.Ala215=) c.471T>C (p.Ala157=) c.527-25927T>C (n.527-25927T>C) | gnomAD v4 |
| 6 | g.136872215T>G | CA452228779 | PEX7 | c.765T>G (p.Ala255=) c.*30T>G (n.*30T>G) c.453T>G c.651T>G (p.Ala217=) c.770T>G (n.770T>G) c.645T>G (p.Ala215=) c.471T>G (p.Ala157=) c.527-25927T>G (n.527-25927T>G) | ClinVar gnomAD v4 |
| 6 | g.136872215_136872216insGAG | CA2530711930 | PEX7 | c.765_766insGAG (p.Ala255_Ser256insGlu) c.*30_*31insGAG (n.*30_*31insGAG) c.453_454insGAG c.651_652insGAG (p.Ala217_Ser218insGlu) c.770_771insGAG (n.770_771insGAG) c.645_646insGAG (p.Ala215_Ser216insGlu) c.471_472insGAG (p.Ala157_Ser158insGlu) c.527-25927_527-25926insGAG (n.527-25927_527-25926insGAG) | |
| 6 | g.136872216T>A | CA365764424 | PEX7 | c.766T>A (p.Ser256Thr) c.*31T>A (n.*31T>A) c.454T>A c.652T>A (p.Ser218Thr) c.771T>A (n.771T>A) c.646T>A (p.Ser216Thr) c.472T>A (p.Ser158Thr) c.527-25926T>A (n.527-25926T>A) | |
| 6 | g.136872216T>C | CA365764422 | PEX7 | c.766T>C (p.Ser256Pro) c.*31T>C (n.*31T>C) c.454T>C c.652T>C (p.Ser218Pro) c.771T>C (n.771T>C) c.646T>C (p.Ser216Pro) c.472T>C (p.Ser158Pro) c.527-25926T>C (n.527-25926T>C) | |
| 6 | g.136872216T>G | CA365764423 | PEX7 | c.766T>G (p.Ser256Ala) c.*31T>G (n.*31T>G) c.454T>G c.652T>G (p.Ser218Ala) c.771T>G (n.771T>G) c.646T>G (p.Ser216Ala) c.472T>G (p.Ser158Ala) c.527-25926T>G (n.527-25926T>G) | |
| 6 | g.136872217C>A | CA365764425 | PEX7 | c.767C>A (p.Ser256Tyr) c.*32C>A (n.*32C>A) c.455C>A c.653C>A (p.Ser218Tyr) c.772C>A (n.772C>A) c.647C>A (p.Ser216Tyr) c.473C>A (p.Ser158Tyr) c.527-25925C>A (n.527-25925C>A) | |
| 6 | g.136872217C>G | CA365764426 | PEX7 | c.767C>G (p.Ser256Cys) c.*32C>G (n.*32C>G) c.455C>G c.653C>G (p.Ser218Cys) c.772C>G (n.772C>G) c.647C>G (p.Ser216Cys) c.473C>G (p.Ser158Cys) c.527-25925C>G (n.527-25925C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872217C>T | CA365764427 | PEX7 | c.767C>T (p.Ser256Phe) c.*32C>T (n.*32C>T) c.455C>T c.653C>T (p.Ser218Phe) c.772C>T (n.772C>T) c.647C>T (p.Ser216Phe) c.473C>T (p.Ser158Phe) c.527-25925C>T (n.527-25925C>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872218T>A | CA452228780 | PEX7 | c.768T>A (p.Ser256=) c.*33T>A (n.*33T>A) c.456T>A c.654T>A (p.Ser218=) c.773T>A (n.773T>A) c.648T>A (p.Ser216=) c.474T>A (p.Ser158=) c.527-25924T>A (n.527-25924T>A) | |
| 6 | g.136872218T>C | CA452228781 | PEX7 | c.768T>C (p.Ser256=) c.*33T>C (n.*33T>C) c.456T>C c.654T>C (p.Ser218=) c.773T>C (n.773T>C) c.648T>C (p.Ser216=) c.474T>C (p.Ser158=) c.527-25924T>C (n.527-25924T>C) | gnomAD v4 |