| 基因名 | 突变 |
|---|---|
| SRRM5(NM_001145641,serine/arginine repetitive matrix 5,715aa) | g.19:44117106C>T,c.833C>T,p.P278L |
| SRRM5(NM_001145641,serine/arginine repetitive matrix 5,715aa) | g.19:44117052C>T,c.779C>T,p.T260I |
| SRRM5(NM_001145641,serine/arginine repetitive matrix 5,715aa) | g.19:44116956A>G,c.683A>G,p.K228R |
| SRRM5(NM_001145641,serine/arginine repetitive matrix 5,715aa) | g.19:44116671A>G,c.398A>G,p.K133R |
| SRRM5(NM_001145641,serine/arginine repetitive matrix 5,715aa) | g.19:44116662G>A,c.389G>A,p.R130H |
| SRRM5(NM_001145641,serine/arginine repetitive matrix 5,715aa) | g.19:44116503G>A,c.230G>A,p.R77Q |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119594512G>C,c.1745G>C,p.R582P |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119594464C>T,c.1697C>T,p.T566M |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119592092A>G,c.1436A>G,p.E479G |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119591376A>C,c.1313A>C,p.K438T |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119589019del,c.1274del,p.425fs |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119588962G>A,c.1217G>A,p.R406Q |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119588853G>A,c.1108G>A,p.E370K |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119568596G>A,c.728G>A,p.S243N |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119568539G>A,c.671G>A,p.R224H |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119568535C>T,c.667C>T,p.R223C |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119568494G>A,c.626G>A,p.R209Q |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119563242G>A,c.572G>A,p.R191Q |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119563241C>T,c.571C>T,p.R191W |
| SRRM4(NM_194286,serine/arginine repetitive matrix 4,611aa) | g.12:119540063G>T,c.154G>T,p.V52F |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2820700T>C,c.8231T>C,p.M2744T |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2820684C>T,c.8215C>T,p.P2739S |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2820460A>G,c.8129A>G,p.Q2710R |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2818229G>A,c.7700G>A,p.S2567N |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2818097C>G,c.7568C>G,p.A2523G |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2818066A>G,c.7537A>G,p.T2513A |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2818061C>G,c.7532C>G,p.A2511G |
| SRRM2(NM_016333,serine/arginine repetitive matrix 2,2752aa) | g.16:2817983C>T,c.7454C>T,p.S2485F |