| 基因名 | 突变 |
|---|---|
| PUS7(NM_019042,pseudouridylate synthase 7 homolog (S. cerevisiae),661aa) | g.7:105148680C>T,c.280G>A,p.E94K |
| PUS7(NM_019042,pseudouridylate synthase 7 homolog (S. cerevisiae),661aa) | g.7:105148593G>A,c.367C>T,p.H123Y |
| PUS7(NM_019042,pseudouridylate synthase 7 homolog (S. cerevisiae),661aa) | g.7:105103086C>T,c.1739G>A,p.R580H |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148901T>C,c.148A>G,p.I50V |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148898C>T,c.151G>A,p.D51N |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148801C>A,c.248G>T,p.G83V |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148773A>C,c.276T>G,p.I92M |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148486G>A,c.563C>T,p.T188I |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148460C>A,c.589G>T,p.V197L |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148259T>C,c.790A>G,p.K264E |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148208G>A,c.841C>T,p.R281W |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44148180C>T,c.869G>A,p.R290K |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44136258A>C,c.1362+2T>G,p.454Donor |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44130390G>A,c.1519C>T,p.R507C |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44130360G>C,c.1549C>G,p.Q517E |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44130352C>A,c.1557G>T,p.W519C |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44130331C>T,c.1578G>A,p.M526I |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44130330G>A,c.1579C>T,p.R527C |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44130273T>C,c.1636A>G,p.R546G |
| PUS7L(NM_001098615,pseudouridylate synthase 7 homolog (S. cerevisiae)-like,701aa) | g.12:44124408C>A,c.1877G>T,p.C626F |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125766173A>C,c.7T>G,p.Y3D |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125766044C>A,c.136G>T,p.A46S |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125766041C>T,c.139G>A,p.G47R |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125766022C>T,c.158G>A,p.R53H |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125765975T>C,c.205A>G,p.I69V |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125765587C>T,c.476G>A,p.R159H |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125765528G>A,c.535C>T,p.P179S |
| PUS3(NM_031307,pseudouridylate synthase 3,481aa) | g.11:125763902C>T,c.1224G>A,p.M408I |