| 基因名 | 突变 |
|---|---|
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:150881743G>A,c.1171G>A,p.A391T |
| MED12L(NM_053002,mediator complex subunit 12-like,2145aa) | g.3:150874057G>T,c.666G>T,p.E222D |
| MED11(NM_001001683,mediator complex subunit 11,117aa) | g.17:4636454G>A,c.326G>A,p.R109Q |
| MED11(NM_001001683,mediator complex subunit 11,117aa) | g.17:4636357C>T,c.229C>T,p.Q77X |
| MED10(NM_032286,mediator complex subunit 10,135aa) | g.5:6377364_6377365insG,c.123-2insC,p.41Acceptorins |
| MECR(NM_001024732,mitochondrial trans-2-enoyl-CoA reductase,297aa) | g.1:29542637A>G,c.58T>C,p.F20L |
| MECR(NM_001024732,mitochondrial trans-2-enoyl-CoA reductase,297aa) | g.1:29529683C>T,c.385G>A,p.A129T |
| MECR(NM_001024732,mitochondrial trans-2-enoyl-CoA reductase,297aa) | g.1:29528531C>T,c.452G>A,p.R151K |
| MECR(NM_001024732,mitochondrial trans-2-enoyl-CoA reductase,297aa) | g.1:29527028G>A,c.602C>T,p.A201V |
| MECR(NM_001024732,mitochondrial trans-2-enoyl-CoA reductase,297aa) | g.1:29520600G>C,c.828C>G,p.D276E |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153297880T>C,c.155A>G,p.H52R |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153297820G>A,c.215C>T,p.P72L |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153297791_153297792insG,c.243_244insC,p.81fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153297660G>T,c.375C>A,p.I125I |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296876T>C,c.403A>G,p.K135E |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296848del,c.431del,p.144fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296748del,c.531del,p.177fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296689G>A,c.590C>T,p.T197M |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296683G>T,c.596C>A,p.P199H |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296677G>A,c.602C>T,p.A201V |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296593G>A,c.686C>T,p.S229L |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296584del,c.695del,p.232fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296583_153296584insC,c.695_696insG,p.232fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296569del,c.710del,p.237fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296568_153296569insC,c.710_711insG,p.237fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296526del,c.753del,p.251fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296473del,c.806del,p.269fs |
| MECP2(NM_004992,methyl CpG binding protein 2 (Rett syndrome),486aa) | g.X:153296445G>A,c.834C>T,p.A278A |