| 基因名 | 突变 |
|---|---|
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73484165A>G,c.562A>G,p.I188V |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73482459C>T,c.361C>T,p.R121C |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73482442G>T,c.344G>T,p.R115L |
| KIAA0195(NM_014738,KIAA0195,1356aa) | g.17:73482373G>A,c.275G>A,p.R92H |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141318178C>T,c.1402C>T,p.R468C |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141313880C>T,c.973C>T,p.R325X |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141312952A>G,c.883A>G,p.R295G |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141309824G>A,c.739G>A,p.A247T |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141309752A>G,c.667A>G,p.K223E |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141309176G>A,c.442G>A,p.D148N |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141309152C>T,c.418C>T,p.R140X |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141307833T>C,c.382T>C,p.F128L |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141305003G>A,c.175G>A,p.G59R |
| KIAA0141(NM_014773,KIAA0141,515aa) | g.5:141304154C>T,c.40C>T,p.R14C |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26970261G>A,c.317C>T,p.S106F |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26969991A>C,c.411T>G,p.H137Q |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26965551T>C,c.1339A>G,p.I447V |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26964086G>A,c.1874C>T,p.T625M |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26962622C>A,c.1983G>T,p.Q661H |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26962431G>A,c.2174C>T,p.P725L |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26962039G>A,c.2566C>T,p.R856C |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26961799C>A,c.2806G>T,p.A936S |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26961753C>T,c.2852G>A,p.R951H |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26961735G>A,c.2870C>T,p.T957I |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26961697C>T,c.2908G>A,p.G970R |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26961647A>C,c.2958T>G,p.H986Q |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26960761A>G,c.3271T>C,p.F1091L |
| KIAA0100(NM_014680,KIAA0100,2235aa) | g.17:26959255T>C,c.3808A>G,p.I1270V |