| 基因名 | 突变 |
|---|---|
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138656073A>C,c.6090A>C,p.K2030N |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138655262G>C,c.5279G>C,p.R1760T |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138655223C>T,c.5240C>T,p.T1747M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138644833G>A,c.4792G>A,p.V1598M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138642307G>A,c.4711G>A,p.A1571T |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138640903G>A,c.4538G>A,p.R1513H |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138638442A>G,c.4400A>G,p.N1467S |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138634992G>A,c.4261G>A,p.G1421S |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138632595C>T,c.4148C>T,p.P1383L |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138632588G>A,c.4141G>A,p.G1381R |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138628471G>A,c.3910G>A,p.E1304K |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138608214T>C,c.2789T>C,p.V930A |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138608024G>A,c.2756G>A,p.R919Q |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138601169G>A,c.2329G>A,p.V777M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138601166G>A,c.2326G>A,p.G776S |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138584685T>G,c.2065T>G,p.S689A |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138584499G>A,c.1879G>A,p.V627M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138584119G>A,c.1499G>A,p.S500N |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138584100G>A,c.1480G>A,p.E494K |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138583899G>A,c.1279G>A,p.V427M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138583859A>C,c.1239A>C,p.E413D |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138576826G>A,c.1024G>A,p.V342M |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138575088T>C,c.737T>C,p.M246T |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138566719C>T,c.656C>T,p.A219V |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138491807G>A,c.94G>A,p.G32S |
| KIAA1244(NM_020340,KIAA1244,2177aa) | g.6:138483272T>C,c.49T>C,p.Y17H |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37448316G>A,c.4706G>A,p.R1569Q |
| KIAA1239(NM_001144990,KIAA1239,1742aa) | g.4:37448297G>A,c.4687G>A,p.A1563T |