| 基因名 | 突变 |
|---|---|
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113376527A>T,c.4002T>A,p.D1334E |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113376159T>A,c.4370A>T,p.H1457L |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113376111_113376119del,c.4410_4418del,p.1470_1473del |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113376111_113376116del,c.4413_4418del,p.1471_1473del |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113376111_113376113del,c.4416_4418del,p.1472_1473del |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113375226C>T,c.5303G>A,p.R1768Q |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113375077T>C,c.5452A>G,p.S1818G |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113374831A>T,c.5698T>A,p.S1900T |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113374633C>A,c.5896G>T,p.A1966S |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113374431T>C,c.6098A>G,p.K2033R |
| KIAA2018(NM_001009899,KIAA2018,2245aa) | g.3:113373930A>G,c.6599T>C,p.V2200A |
| KIAA2013(NM_138346,KIAA2013,634aa) | g.1:11985597G>C,c.698C>G,p.T233S |
| KIAA2013(NM_138346,KIAA2013,634aa) | g.1:11983352C>T,c.1228G>A,p.E410K |
| KIAA2013(NM_138346,KIAA2013,634aa) | g.1:11983091C>T,c.1489G>A,p.V497M |
| KIAA2013(NM_138346,KIAA2013,634aa) | g.1:11982955G>A,c.1625C>T,p.T542I |
| KIAA2013(NM_138346,KIAA2013,634aa) | g.1:11982788C>T,c.1792G>A,p.V598M |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139701486T>C,c.1454T>C,p.I485T |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139701301G>T,c.1371G>T,p.M457I |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139701218G>C,c.1288G>C,p.V430L |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139701108A>C,c.1262A>C,p.N421T |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139700605T>C,c.1024T>C,p.W342R |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139699839T>C,c.878T>C,p.M293T |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139699824C>T,c.863C>T,p.T288I |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139699038G>A,c.751G>A,p.D251N |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139699012G>A,c.725G>A,p.R242Q |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139698997G>A,c.710G>A,p.R237Q |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139697225C>T,c.653C>T,p.T218M |
| KIAA1984(NM_001039374,KIAA1984,534aa) | g.9:139697135T>C,c.563T>C,p.I188T |