| 基因名 | 突变 |
|---|---|
| KIAA1199(NM_018689,KIAA1199,1361aa) | g.15:81187437G>A,c.1193G>A,p.R398H |
| KIAA1199(NM_018689,KIAA1199,1361aa) | g.15:81181108A>G,c.935A>G,p.N312S |
| KIAA1199(NM_018689,KIAA1199,1361aa) | g.15:81181084A>G,c.911A>G,p.Q304R |
| KIAA1199(NM_018689,KIAA1199,1361aa) | g.15:81180069C>T,c.832C>T,p.P278S |
| KIAA1199(NM_018689,KIAA1199,1361aa) | g.15:81173476C>T,c.616C>T,p.R206W |
| KIAA1199(NM_018689,KIAA1199,1361aa) | g.15:81172083G>A,c.268G>A,p.E90K |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34372931T>A,c.11A>T,p.N4I |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34372895C>T,c.47G>A,p.R16H |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34372873C>G,c.69G>C,p.X23Y |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34372783G>C,c.159C>G,p.D53E |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34372347G>T,c.595C>A,p.R199S |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34371895G>T,c.1047C>A,p.H349Q |
| KIAA1161(NM_020702,KIAA1161,714aa) | g.9:34371788A>T,c.1154T>A,p.F385Y |
| KIAA1143(NM_020696,KIAA1143,154aa) | g.3:44794955T>C,c.343A>G,p.S115G |
| KIAA1143(NM_020696,KIAA1143,154aa) | g.3:44794881A>C,c.417T>G,p.I139M |
| KIAA1143(NM_020696,KIAA1143,154aa) | g.3:44794867A>C,c.431T>G,p.L144R |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123277001A>G,c.14356A>G,p.T4786A |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123268859A>G,c.13054A>G,p.T4352A |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123255578A>G,c.11726A>G,p.K3909R |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123252683A>G,c.11452A>G,p.I3818V |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123252539C>T,c.11308C>T,p.R3770C |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123249392C>T,c.11129C>T,p.P3710L |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123246423G>A,c.10943G>A,p.R3648H |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123237903G>A,c.10556G>A,p.R3519Q |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123207867T>G,c.9209T>G,p.V3070G |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123193467C>T,c.8353C>T,p.R2785C |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123192264G>A,c.7585G>A,p.V2529M |
| KIAA1109(NM_015312,KIAA1109,5005aa) | g.4:123192240A>C,c.7561A>C,p.S2521R |