| 基因名 | 突变 |
|---|---|
| RPUSD1(NM_058192,RNA pseudouridylate synthase domain containing 1,312aa) | g.16:836299G>A,c.590C>T,p.S197L |
| RPUSD1(NM_058192,RNA pseudouridylate synthase domain containing 1,312aa) | g.16:836149A>G,c.740T>C,p.L247P |
| RPUSD1(NM_058192,RNA pseudouridylate synthase domain containing 1,312aa) | g.16:836111G>T,c.778C>A,p.P260T |
| RPUSD1(NM_058192,RNA pseudouridylate synthase domain containing 1,312aa) | g.16:836081C>A,c.808G>T,p.G270C |
| RPUSD1(NM_058192,RNA pseudouridylate synthase domain containing 1,312aa) | g.16:836017T>A,c.872A>T,p.E291V |
| RPUSD1(NM_058192,RNA pseudouridylate synthase domain containing 1,312aa) | g.16:836003G>A,c.886C>T,p.R296W |
| RPTOR(NM_020761,regulatory associated protein of MTOR, complex 1,1335aa) | g.17:78936266A>G,c.3698A>G,p.N1233S |
| RPTOR(NM_020761,regulatory associated protein of MTOR, complex 1,1335aa) | g.17:78896530G>A,c.2527G>A,p.V843M |
| RPTOR(NM_020761,regulatory associated protein of MTOR, complex 1,1335aa) | g.17:78867557G>A,c.2293G>A,p.A765T |
| RPTOR(NM_020761,regulatory associated protein of MTOR, complex 1,1335aa) | g.17:78854223A>G,c.1518A>G,p.Q506Q |
| RPTOR(NM_020761,regulatory associated protein of MTOR, complex 1,1335aa) | g.17:78796993G>A,c.1106G>A,p.R369H |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129405A>T,c.170T>A,p.I57N |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129381C>T,c.194G>A,p.R65Q |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129253C>T,c.322G>A,p.A108T |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129244A>G,c.331T>C,p.C111R |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129199C>T,c.376G>A,p.E126K |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129102T>C,c.473A>G,p.H158R |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129094A>G,c.481T>C,p.S161P |
| RPTN(NM_001122965,repetin,784aa) | g.1:152129087T>C,c.488A>G,p.K163R |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128838T>A,c.737A>T,p.H246L |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128563C>A,c.1012G>T,p.G338C |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128470G>A,c.1105C>T,p.Q369X |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128418T>C,c.1157A>G,p.D386G |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128401C>T,c.1174G>A,p.G392S |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128346C>T,c.1229G>A,p.G410D |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128251G>T,c.1324C>A,p.P442T |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128212C>G,c.1363G>C,p.D455H |
| RPTN(NM_001122965,repetin,784aa) | g.1:152128200G>A,c.1375C>T,p.Q459X |