| 基因名 | 突变 |
|---|---|
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11131000T>C,c.2273A>G,p.K758R |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11129631A>G,c.2473T>C,p.F825L |
| EXOG(NM_005107,endo/exonuclease (5'-3'), endonuclease G-like,368aa) | g.3:38565753A>G,c.1007A>G,p.E336G |
| EXOG(NM_005107,endo/exonuclease (5'-3'), endonuclease G-like,368aa) | g.3:38565618G>A,c.872G>A,p.R291Q |
| EXOG(NM_005107,endo/exonuclease (5'-3'), endonuclease G-like,368aa) | g.3:38565576G>T,c.830G>T,p.G277V |
| EXOG(NM_005107,endo/exonuclease (5'-3'), endonuclease G-like,368aa) | g.3:38565504A>G,c.758A>G,p.N253S |
| EXOG(NM_005107,endo/exonuclease (5'-3'), endonuclease G-like,368aa) | g.3:38565410G>A,c.664G>A,p.V222M |
| EXOG(NM_005107,endo/exonuclease (5'-3'), endonuclease G-like,368aa) | g.3:38548355T>C,c.541T>C,p.Y181H |
| EXOC8(NM_175876,exocyst complex component 8,725aa) | g.1:231472611T>G,c.881A>C,p.E294A |
| EXOC8(NM_175876,exocyst complex component 8,725aa) | g.1:231472537C>G,c.955G>C,p.E319Q |
| EXOC8(NM_175876,exocyst complex component 8,725aa) | g.1:231471536C>G,c.1956G>C,p.L652F |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74097911T>A,c.160A>T,p.M54L |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74094020G>A,c.497C>T,p.S166L |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74094003C>A,c.514G>T,p.D172Y |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74093957G>T,c.560C>A,p.T187N |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74093934C>T,c.583G>A,p.V195M |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74093922C>T,c.595G>A,p.V199I |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74093907G>A,c.610C>T,p.R204C |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74090564C>T,c.739G>A,p.V247I |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74084639G>A,c.1358C>T,p.T453M |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74081452G>A,c.1808C>T,p.T603I |
| EXOC7(NM_001145297,exocyst complex component 7,735aa) | g.17:74079802G>A,c.2135C>T,p.P712L |
| EXOC6(NM_019053,exocyst complex component 6,804aa) | g.10:94817990A>G,c.2293A>G,p.T765A |
| EXOC6(NM_019053,exocyst complex component 6,804aa) | g.10:94757279A>G,c.2002A>G,p.T668A |
| EXOC6(NM_019053,exocyst complex component 6,804aa) | g.10:94733904C>T,c.1868C>T,p.S623F |
| EXOC6(NM_019053,exocyst complex component 6,804aa) | g.10:94733853A>G,c.1817A>G,p.N606S |
| EXOC6(NM_019053,exocyst complex component 6,804aa) | g.10:94715431C>T,c.1733C>T,p.T578I |
| EXOC6(NM_019053,exocyst complex component 6,804aa) | g.10:94715415A>G,c.1717A>G,p.N573D |