| 基因名 | 突变 |
|---|---|
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127770982C>T,c.563G>A,p.R188Q |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127768632G>A,c.832C>T,p.P278S |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127768625G>A,c.839C>T,p.S280L |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127768566G>A,c.898C>T,p.P300S |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127768472G>A,c.992C>T,p.S331L |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127768370A>G,c.1094T>C,p.I365T |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127768021G>T,c.1443C>A,p.H481Q |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127767954G>A,c.1510C>T,p.P504S |
| KIAA0408(NM_014702,KIAA0408,694aa) | g.6:127765360C>T,c.1979G>A,p.R660H |
| KIAA0391(NM_014672,KIAA0391,583aa) | g.14:35735967A>G,c.1310A>G,p.N437S |
| KIAA0391(NM_014672,KIAA0391,583aa) | g.14:35596714T>C,c.1064T>C,p.I355T |
| KIAA0391(NM_014672,KIAA0391,583aa) | g.14:35593137C>T,c.686C>T,p.A229V |
| KIAA0391(NM_014672,KIAA0391,583aa) | g.14:35592648G>C,c.197G>C,p.R66T |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114246471C>G,c.350G>C,p.R117P |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114206731C>T,c.731G>A,p.R244H |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114192904T>G,c.1387A>C,p.I463L |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114190341G>A,c.1565C>T,p.T522M |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114187703T>G,c.1744A>C,p.K582Q |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114184259G>C,c.1931C>G,p.T644S |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114174415T>C,c.2627A>G,p.N876S |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114174359T>C,c.2683A>G,p.T895A |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114172355A>T,c.3050T>A,p.L1017Q |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114156508C>T,c.3388G>A,p.V1130M |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114154094C>T,c.3637G>A,p.E1213K |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114140951G>A,c.4397C>T,p.P1466L |
| KIAA0368(NM_001080398,KIAA0368,2017aa) | g.9:114134859T>C,c.4912A>G,p.I1638V |
| KIAA0355(NM_014686,KIAA0355,1070aa) | g.19:34843765C>A,c.3118C>A,p.P1040T |
| KIAA0355(NM_014686,KIAA0355,1070aa) | g.19:34843657C>T,c.3010C>T,p.P1004S |