| 基因名 | 突变 |
|---|---|
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376780T>C,c.1570A>G,p.T524A |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376713G>A,c.1637C>T,p.S546F |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376522T>G,c.1828A>C,p.T610P |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376518T>G,c.1832A>C,p.Q611P |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376518T>A,c.1832A>T,p.Q611L |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376509G>A,c.1841C>T,p.A614V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18376407T>A,c.1943A>T,p.Y648F |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375985C>T,c.2365G>A,p.G789S |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375922C>T,c.2428G>A,p.G810R |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375882G>C,c.2468C>G,p.P823R |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375846G>A,c.2504C>T,p.P835L |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375784G>A,c.2566C>T,p.R856C |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375760G>C,c.2590C>G,p.Q864E |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375531G>A,c.2819C>T,p.A940V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375511G>A,c.2839C>T,p.R947C |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375352G>C,c.2998C>G,p.L1000V |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18375346G>A,c.3004C>T,p.Q1002X |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368874G>A,c.3220C>T,p.R1074C |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368873C>T,c.3221G>A,p.R1074H |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368829G>A,c.3265C>T,p.R1089C |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368810G>T,c.3284C>A,p.P1095H |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368796C>T,c.3298G>A,p.G1100R |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368748C>T,c.3346G>A,p.A1116T |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368720C>T,c.3374G>A,p.R1125H |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368552C>T,c.3542G>A,p.R1181Q |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368529C>T,c.3565G>A,p.V1189I |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368525G>A,c.3569C>T,p.T1190M |
| KIAA1683(NM_001145304,KIAA1683,1367aa) | g.19:18368361C>T,c.3733G>A,p.V1245M |