| 基因名 | 突变 |
|---|---|
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108382207T>C,c.4027A>G,p.T1343A |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381715C>T,c.4519G>A,p.V1507I |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381678A>C,c.4556T>G,p.L1519R |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381468G>T,c.4766C>A,p.S1589Y |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381373G>A,c.4861C>T,p.P1621S |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381247C>T,c.4987G>A,p.G1663R |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381211T>A,c.5023A>T,p.I1675F |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108381118C>T,c.5116G>A,p.V1706I |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108380781C>T,c.5453G>A,p.R1818H |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108380670A>C,c.5564T>G,p.L1855R |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108380620T>C,c.5614A>G,p.T1872A |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108380449G>C,c.5785C>G,p.P1929A |
| EXPH5(NM_015065,exophilin 5,1989aa) | g.11:108380335T>C,c.5899A>G,p.N1967D |
| EXOSC9(NM_001034194,exosome component 9,456aa) | g.4:122737965G>C,c.1325G>C,p.S442T |
| EXOSC9(NM_001034194,exosome component 9,456aa) | g.4:122735142A>G,c.1096A>G,p.I366V |
| EXOSC9(NM_001034194,exosome component 9,456aa) | g.4:122734531G>A,c.970G>A,p.E324K |
| EXOSC9(NM_001034194,exosome component 9,456aa) | g.4:122728711G>A,c.539G>A,p.R180H |
| EXOSC8(NM_181503,exosome component 8,276aa) | g.13:37583420G>C,c.815G>C,p.S272T |
| EXOSC8(NM_181503,exosome component 8,276aa) | g.13:37580090C>T,c.272C>T,p.S91L |
| EXOSC8(NM_181503,exosome component 8,276aa) | g.13:37580078C>A,c.260C>A,p.P87H |
| EXOSC8(NM_181503,exosome component 8,276aa) | g.13:37574957C>G,c.15C>G,p.F5L |
| EXOSC7(NM_015004,exosome component 7,291aa) | g.3:45052775G>C,c.820G>C,p.V274L |
| EXOSC7(NM_015004,exosome component 7,291aa) | g.3:45046797G>A,c.506G>A,p.R169Q |
| EXOSC7(NM_015004,exosome component 7,291aa) | g.3:45017782A>G,c.13A>G,p.T5A |
| EXOSC6(NM_058219,exosome component 6,272aa) | g.16:70285799G>A,c.5C>T,p.P2L |
| EXOSC6(NM_058219,exosome component 6,272aa) | g.16:70285400C>G,c.404G>C,p.R135P |
| EXOSC6(NM_058219,exosome component 6,272aa) | g.16:70285227G>T,c.577C>A,p.P193T |
| EXOSC6(NM_058219,exosome component 6,272aa) | g.16:70285053G>A,c.751C>T,p.L251F |