| 基因名 | 突变 |
|---|---|
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2950015G>A,c.1403C>T,p.A468V |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2948203G>A,c.1571C>T,p.A524V |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2946920T>C,c.1672A>G,p.T558A |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2946875del,c.1717del,p.573fs |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2944037A>C,c.1933T>G,p.S645A |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2943419G>A,c.2089C>T,p.R697C |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2943361T>C,c.2147A>G,p.Q716R |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2941321G>A,c.2251C>T,p.R751W |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2941320C>T,c.2252G>A,p.R751Q |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2941317G>A,c.2255C>T,p.P752L |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2941266C>T,c.2306G>A,p.R769Q |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2940967G>A,c.2422C>T,p.R808C |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2940921A>G,c.2468T>C,p.M823T |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2940916G>A,c.2473C>T,p.R825W |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2940596C>T,c.2536G>A,p.E846K |
| NOP10(NM_018648,NOP10 ribonucleoprotein,64aa) | g.15:34635241C>G,c.34G>C,p.D12H |
| NOMO3(NM_001004067,NODAL modulator 3,1222aa) | g.16:16358968G>A,c.1738G>A,p.V580M |
| NOMO3(NM_001004067,NODAL modulator 3,1222aa) | g.16:16355471G>A,c.1333G>A,p.V445M |
| NOMO3(NM_001004067,NODAL modulator 3,1222aa) | g.16:16349988C>T,c.1193C>T,p.P398L |
| NOMO3(NM_001004067,NODAL modulator 3,1222aa) | g.16:16349631G>A,c.1018G>A,p.E340K |
| NOMO2(NM_173614,NODAL modulator 2,1222aa) | g.16:18555000C>T,c.674G>A,p.S225N |
| NOMO2(NM_173614,NODAL modulator 2,1222aa) | g.16:18542857C>T,c.1468G>A,p.D490N |
| NOMO2(NM_173614,NODAL modulator 2,1222aa) | g.16:18542848C>T,c.1477G>A,p.V493M |
| NOMO2(NM_173614,NODAL modulator 2,1222aa) | g.16:18532238C>A,c.2122G>T,p.E708X |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14989449G>A,c.3616G>A,p.G1206S |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14989425G>A,c.3592G>A,p.G1198S |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14989420C>T,c.3587C>T,p.A1196V |
| NOMO1(NM_014287,NODAL modulator 1,1222aa) | g.16:14989409G>C,c.3576G>C,p.Q1192H |