| 基因名 | 突变 |
|---|---|
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101832880T>C,c.1114T>C,p.S372P |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101832689A>T,c.923A>T,p.H308L |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101832670G>A,c.904G>A,p.A302T |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101832608T>C,c.842T>C,p.I281T |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101832590C>A,c.824C>A,p.S275Y |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101832478G>T,c.712G>T,p.G238C |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101829006G>A,c.614G>A,p.R205K |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101828924G>A,c.532G>A,p.A178T |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101818803C>G,c.436C>G,p.Q146E |
| KIAA1377(NM_020802,KIAA1377,1117aa) | g.11:101815012C>T,c.265C>T,p.R89X |
| KIAA1328(NM_020776,KIAA1328,577aa) | g.18:34802045G>A,c.1589G>A,p.R530H |
| KIAA1328(NM_020776,KIAA1328,577aa) | g.18:34801999G>C,c.1543G>C,p.D515H |
| KIAA1328(NM_020776,KIAA1328,577aa) | g.18:34753017C>T,c.1496C>T,p.S499L |
| KIAA1328(NM_020776,KIAA1328,577aa) | g.18:34740290A>C,c.1360A>C,p.K454Q |
| KIAA1328(NM_020776,KIAA1328,577aa) | g.18:34740282C>T,c.1352C>T,p.S451L |
| KIAA1328(NM_020776,KIAA1328,577aa) | g.18:34647423C>T,c.1147C>T,p.R383C |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109745618T>C,c.3026T>C,p.L1009P |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109735416A>C,c.1867A>C,p.T623P |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109734349G>A,c.1547G>A,p.G516D |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109734055A>G,c.1507A>G,p.T503A |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109730809T>C,c.1052T>C,p.M351T |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109727733C>T,c.1019C>T,p.T340M |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109716352C>T,c.845C>T,p.T282M |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109716109G>A,c.710G>A,p.R237Q |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109714559C>T,c.539C>T,p.A180V |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109714505G>A,c.485G>A,p.R162Q |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109707183G>A,c.337G>A,p.E113K |
| KIAA1324(NM_020775,KIAA1324,1013aa) | g.1:109704630G>A,c.268G>A,p.E90K |