| 基因名 | 突变 |
|---|---|
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32955122A>G,c.1931A>G,p.Q644R |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32954693A>C,c.1502A>C,p.N501T |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32954476G>C,c.1285G>C,p.G429R |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32954363C>T,c.1172C>T,p.T391M |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32954344G>A,c.1153G>A,p.V385I |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32953904T>C,c.713T>C,p.I238T |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32953519C>A,c.328C>A,p.P110T |
| QSER1(NM_001076786,glutamine and serine rich 1,1735aa) | g.11:32953516G>A,c.325G>A,p.V109I |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107103544G>A,c.1097G>A,p.R366Q |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107103537A>G,c.1090A>G,p.T364A |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107103510G>T,c.1063G>T,p.V355L |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107102618C>T,c.863C>T,p.P288L |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107100396A>G,c.788A>G,p.N263S |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107100220A>G,c.694A>G,p.I232V |
| QRSL1(NM_018292,glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1,528aa) | g.6:107088231C>T,c.32C>T,p.A11V |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74300497G>A,c.206C>T,p.A69V |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74290008G>T,c.302C>A,p.P101Q |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74289883C>G,c.427G>C,p.G143R |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74289705A>G,c.605T>C,p.L202S |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74289648G>A,c.662C>T,p.P221L |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74289639C>T,c.671G>A,p.R224H |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74289519C>T,c.791G>A,p.R264Q |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74289519C>A,c.791G>T,p.R264L |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74288853T>G,c.1457A>C,p.Q486P |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74288811T>C,c.1499A>G,p.D500G |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74288775C>T,c.1535G>A,p.R512H |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74288568_74288570del,c.1740_1742del,p.580_581del |
| QRICH2(NM_032134,glutamine rich 2,1663aa) | g.17:74288567A>C,c.1743T>G,p.H581Q |