| 基因名 | 突变 |
|---|---|
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1903481C>T,c.826G>A,p.E276K |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1903468C>T,c.839G>A,p.R280Q |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1902246G>A,c.898C>T,p.R300W |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1902225G>A,c.919C>T,p.R307C |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1902129G>A,c.1015C>T,p.R339C |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1902125C>T,c.1019G>A,p.R340Q |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900232T>C,c.1087A>G,p.I363V |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900225C>T,c.1094G>A,p.R365Q |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900186T>C,c.1133A>G,p.K378R |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900156C>T,c.1163G>A,p.R388Q |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900137C>G,c.1182G>C,p.K394N |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900108_1900109insCCT,c.1210_1211insAGG,p.404ins1aa |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900106T>C,c.1213A>G,p.K405E |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1900106_1900107insCTC,c.1212_1213insGAG,p.404_405ins1aa |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1897889G>C,c.1322C>G,p.P441R |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1896433C>T,c.1469G>A,p.R490H |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1895248G>A,c.1634C>T,p.T545M |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1891441C>T,c.1723G>A,p.G575R |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1888193C>A,c.1882G>T,p.G628C |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1888163G>A,c.1912C>T,p.R638W |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1887137C>A,c.2169G>T,p.Q723H |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1887112del,c.2194del,p.732fs |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1887049T>C,c.2257A>G,p.R753G |
| KIAA1751(NM_001080484,KIAA1751,762aa) | g.1:1887019A>G,c.2287T>C,p.X763Q |
| KIAA1737(NM_033426,KIAA1737,399aa) | g.14:77580363G>A,c.902G>A,p.R301H |
| KIAA1737(NM_033426,KIAA1737,399aa) | g.14:77580068A>G,c.607A>G,p.T203A |
| KIAA1737(NM_033426,KIAA1737,399aa) | g.14:77576271G>A,c.253G>A,p.A85T |
| KIAA1731(NM_033395,KIAA1731,2601aa) | g.11:93463117G>A,c.7649G>A,p.R2550K |