| 基因名 | 突变 |
|---|---|
| CPSF3(NM_016207,cleavage and polyadenylation specific factor 3, 73kDa,684aa) | g.2:9593064A>G,c.1418A>G,p.K473R |
| CPSF3L(NM_001256456,cleavage and polyadenylation specific factor 3-like,606aa) | g.1:1250962C>T,c.484G>A,p.G162S |
| CPSF3L(NM_001256456,cleavage and polyadenylation specific factor 3-like,606aa) | g.1:1250319C>T,c.605G>A,p.R202H |
| CPSF3L(NM_001256456,cleavage and polyadenylation specific factor 3-like,606aa) | g.1:1247866G>A,c.1436C>T,p.A479V |
| CPSF2(NM_017437,cleavage and polyadenylation specific factor 2, 100kDa,782aa) | g.14:92627522C>T,c.2188C>T,p.R730W |
| CPSF2(NM_017437,cleavage and polyadenylation specific factor 2, 100kDa,782aa) | g.14:92622956A>G,c.1576A>G,p.T526A |
| CPSF2(NM_017437,cleavage and polyadenylation specific factor 2, 100kDa,782aa) | g.14:92622847G>C,c.1467G>C,p.E489D |
| CPSF2(NM_017437,cleavage and polyadenylation specific factor 2, 100kDa,782aa) | g.14:92609397A>G,c.899A>G,p.N300S |
| CPSF2(NM_017437,cleavage and polyadenylation specific factor 2, 100kDa,782aa) | g.14:92601731A>G,c.436A>G,p.I146V |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145626438C>T,c.419G>A,p.R140Q |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145625775G>C,c.799C>G,p.Q267E |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145623785C>T,c.1801G>A,p.A601T |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145622501G>A,c.2513C>T,p.T838M |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145622445G>A,c.2569C>T,p.R857C |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145621588C>T,c.2954G>A,p.R985H |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145620661C>A,c.3085G>T,p.V1029L |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145620542G>A,c.3125C>T,p.T1042M |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145619133G>A,c.3980C>T,p.S1327L |
| CPSF1(NM_013291,cleavage and polyadenylation specific factor 1, 160kDa,1443aa) | g.8:145618907C>T,c.4120G>A,p.A1374T |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211540542C>T,c.4252C>T,p.P1418S |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211540527C>G,c.4237C>G,p.Q1413E |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211540507C>A,c.4217C>A,p.T1406N |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211539650G>A,c.4126G>A,p.G1376S |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211521316T>C,c.3626T>C,p.M1209T |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211515148A>T,c.3466A>T,p.T1156S |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211502509C>G,c.2771C>G,p.T924S |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211481223G>A,c.2645G>A,p.R882H |
| CPS1(NM_001875,carbamoyl-phosphate synthase 1, mitochondrial,1500aa) | g.2:211481201A>G,c.2623A>G,p.K875E |