| 基因名 | 突变 |
|---|---|
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139694613C>A,c.430C>A,p.L144M |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139694569A>C,c.386A>C,p.D129A |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139694521T>G,c.338T>G,p.L113R |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139694177A>T,c.205A>T,p.T69S |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139693596T>C,c.113T>C,p.M38T |
| KIAA1958(NM_133465,KIAA1958,716aa) | g.9:115422194G>A,c.1996G>A,p.V666M |
| KIAA1958(NM_133465,KIAA1958,716aa) | g.9:115421591G>A,c.1393G>A,p.V465I |
| KIAA1958(NM_133465,KIAA1958,716aa) | g.9:115336773A>T,c.413A>T,p.Y138F |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111588213A>G,c.1448A>G,p.Y483C |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587948A>G,c.1183A>G,p.I395V |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587659T>G,c.894T>G,p.I298M |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587456C>T,c.691C>T,p.L231F |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587311A>T,c.546A>T,p.L182F |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587310T>A,c.545T>A,p.L182X |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587259C>T,c.494C>T,p.S165L |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587204A>G,c.439A>G,p.T147A |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111587107G>C,c.342G>C,p.W114C |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111585056G>A,c.220G>A,p.V74I |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111583554G>C,c.122G>C,p.R41P |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111583553C>T,c.121C>T,p.R41C |
| KIAA1919(NM_153369,KIAA1919,518aa) | g.6:111583530G>C,c.98G>C,p.S33T |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61345169G>A,c.1946G>A,p.R649Q |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61331085A>C,c.1463A>C,p.H488P |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61324847A>G,c.1225A>G,p.I409V |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61310331A>G,c.772A>G,p.I258V |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61304228A>G,c.605A>G,p.N202S |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61304072A>G,c.449A>G,p.H150R |
| KIAA1841(NM_001129993,KIAA1841,718aa) | g.2:61297612G>A,c.127G>A,p.V43M |