| 基因名 | 突变 |
|---|---|
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37448156C>T,c.4546C>T,p.R1516C |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37448153C>T,c.4543C>T,p.R1515W |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37446782G>A,c.3172G>A,p.A1058T |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37446601G>C,c.2991G>C,p.E997D |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37446056G>C,c.2446G>C,p.V816L |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37445868G>A,c.2258G>A,p.R753H |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37445504T>G,c.1894T>G,p.S632A |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37445372G>A,c.1762G>A,p.V588I |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37445315C>A,c.1705C>A,p.L569M |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37445144A>G,c.1534A>G,p.I512V |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37444977C>T,c.1367C>T,p.T456M |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37444961G>A,c.1351G>A,p.V451M |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37432261T>C,c.425T>C,p.M142T |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24835221G>T,c.5800G>T,p.A1934S |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24834859G>A,c.5438G>A,p.S1813N |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832821C>T,c.4622C>T,p.T1541M |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832559C>T,c.4360C>T,p.R1454W |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832283C>G,c.4084C>G,p.P1362A |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832224C>T,c.4025C>T,p.T1342M |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832187G>A,c.3988G>A,p.V1330M |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832167C>G,c.3968C>G,p.T1323S |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24832076A>G,c.3877A>G,p.I1293V |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24831846C>T,c.3647C>T,p.P1216L |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24831649C>T,c.3562C>T,p.R1188W |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24822125_24822127del,c.3373_3375del,p.1125del |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24822090C>T,c.3338C>T,p.P1113L |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24820917G>A,c.3241G>A,p.A1081T |
| KIAA1217(NM_019590,KIAA1217,1943aa) | g.10:24817027G>T,c.3061G>T,p.V1021L |