| 基因名 | 突变 |
|---|---|
| COPS7B(NM_022730,COP9 signalosome subunit 7B,264aa) | g.2:232660854G>A,c.366G>A,p.M122I |
| COPS7A(NM_001164093,COP9 signalosome subunit 7A,275aa) | g.12:6840179G>A,c.802G>A,p.A268T |
| COPS5(NM_006837,COP9 signalosome subunit 5,334aa) | g.8:67974090C>T,c.142G>A,p.D48N |
| COPS2(NM_001143887,COP9 signalosome subunit 2,450aa) | g.15:49437184G>A,c.146C>T,p.A49V |
| COPS2(NM_001143887,COP9 signalosome subunit 2,450aa) | g.15:49429375_49429376insT,c.532_533insA,p.178fs |
| COPS2(NM_001143887,COP9 signalosome subunit 2,450aa) | g.15:49420220C>T,c.1280G>A,p.R427Q |
| COPRS(NM_018405,coordinator of PRMT5, differentiation stimulator,184aa) | g.17:30183857T>C,c.127A>G,p.S43G |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128990711C>T,c.1945C>T,p.R649C |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128979215G>A,c.911G>A,p.R304H |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128976451C>G,c.718C>G,p.L240V |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128974990T>C,c.572T>C,p.M191T |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128971732G>A,c.257G>A,p.R86Q |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128971491C>T,c.197C>T,p.A66V |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128971197T>C,c.164T>C,p.I55T |
| COPG1(NM_016128,coatomer protein complex, subunit gamma 1,874aa) | g.3:128971164G>A,c.131G>A,p.C44Y |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19030135G>C,c.23C>G,p.P8R |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19030120G>C,c.38C>G,p.S13C |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19030085C>T,c.73G>A,p.A25T |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19017899C>G,c.313G>C,p.D105H |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19017895C>T,c.317G>A,p.R106Q |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19017862G>A,c.350C>T,p.T117I |
| COPE(NM_007263,coatomer protein complex, subunit epsilon,308aa) | g.19:19017842C>T,c.370G>A,p.A124T |
| COPB2(NM_004766,coatomer protein complex, subunit beta 2 (beta prime),906aa) | g.3:139097997C>T,c.247G>A,p.V83M |
| COPB2(NM_004766,coatomer protein complex, subunit beta 2 (beta prime),906aa) | g.3:139092116C>T,c.1033G>A,p.V345I |
| COPB2(NM_004766,coatomer protein complex, subunit beta 2 (beta prime),906aa) | g.3:139085592G>A,c.1702C>T,p.P568S |
| COPB2(NM_004766,coatomer protein complex, subunit beta 2 (beta prime),906aa) | g.3:139081277_139081278insT,c.1966_1967insA,p.656fs |
| COPB1(NM_016451,coatomer protein complex, subunit beta 1,953aa) | g.11:14520533T>C,c.-57-2A>G,p.5'UTRAcceptor |
| COPB1(NM_016451,coatomer protein complex, subunit beta 1,953aa) | g.11:14502339C>T,c.1178G>A,p.R393Q |