| 基因名 | 突变 |
|---|---|
| EXOSC6(NM_058219,exosome component 6,272aa) | g.16:70285033C>G,c.771G>C,p.Q257H |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41903226T>C,c.8A>G,p.E3G |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41903220G>A,c.14C>T,p.T5M |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41897850G>A,c.280C>T,p.R94W |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41895786C>T,c.409G>A,p.A137T |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41895750G>A,c.445C>T,p.R149W |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41895729C>T,c.466G>A,p.A156T |
| EXOSC5(NM_020158,exosome component 5,235aa) | g.19:41893466G>A,c.568C>T,p.R190W |
| EXOSC4(NM_019037,exosome component 4,245aa) | g.8:145135431G>A,c.665G>A,p.R222Q |
| EXOSC4(NM_019037,exosome component 4,245aa) | g.8:145135397G>A,c.631G>A,p.E211K |
| EXOSC4(NM_019037,exosome component 4,245aa) | g.8:145135175G>A,c.409G>A,p.A137T |
| EXOSC3(NM_016042,exosome component 3,275aa) | g.9:37780831A>G,c.673T>C,p.Y225H |
| EXOSC3(NM_016042,exosome component 3,275aa) | g.9:37780753C>T,c.751G>A,p.A251T |
| EXOSC2(NM_014285,exosome component 2,293aa) | g.9:133577664A>C,c.639A>C,p.E213D |
| EXOSC2(NM_014285,exosome component 2,293aa) | g.9:133573595C>T,c.317C>T,p.S106L |
| EXOSC2(NM_014285,exosome component 2,293aa) | g.9:133573588C>A,c.310C>A,p.L104M |
| EXOSC2(NM_014285,exosome component 2,293aa) | g.9:133569200C>G,c.22C>G,p.P8A |
| EXOSC1(NM_016046,exosome component 1,195aa) | g.10:99203050C>T,c.166G>A,p.V56M |
| EXOSC1(NM_016046,exosome component 1,195aa) | g.10:99200934G>T,c.305C>A,p.T102N |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11159851G>A,c.38C>T,p.S13L |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11158105C>T,c.220G>A,p.E74K |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11155886T>G,c.301A>C,p.S101R |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11150689C>T,c.680G>A,p.R227H |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11150672C>T,c.697G>A,p.V233I |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11137451G>A,c.1850C>T,p.P617L |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11136940T>A,c.1945A>T,p.T649S |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11134043C>T,c.2105G>A,p.R702H |
| EXOSC10(NM_001001998,exosome component 10,885aa) | g.1:11131025G>A,c.2248C>T,p.R750W |