| 基因名 | 突变 |
|---|---|
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2638579T>C,c.1424T>C,p.M475T |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2637812C>T,c.1367C>T,p.A456V |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2637809C>T,c.1364C>T,p.A455V |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2637471G>A,c.1211G>A,p.R404Q |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2636340G>A,c.857G>A,p.R286H |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2636027C>T,c.626C>T,p.T209I |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2636015A>G,c.614A>G,p.N205S |
| NOP56(NM_006392,NOP56 ribonucleoprotein,594aa) | g.20:2635212A>G,c.361A>G,p.I121V |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6675769_6675771del,c.162_164del,p.54_55del |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6673087C>T,c.488G>A,p.R163Q |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6672599C>T,c.758G>A,p.R253Q |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6672587C>T,c.770G>A,p.R257Q |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6672564G>A,c.793C>T,p.R265W |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6672297C>T,c.916G>A,p.V306I |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6669665T>C,c.1496A>G,p.N499S |
| NOP2(NM_001258310,NOP2 nucleolar protein,628aa) | g.12:6669359G>C,c.1682C>G,p.S561C |
| NOP16(NM_016391,NOP16 nucleolar protein,178aa) | g.5:175815300T>C,c.152A>G,p.Q51R |
| NOP16(NM_016391,NOP16 nucleolar protein,178aa) | g.5:175812257G>A,c.358C>T,p.R120C |
| NOP16(NM_016391,NOP16 nucleolar protein,178aa) | g.5:175811250C>A,c.519G>T,p.R173S |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2964883G>A,c.164C>T,p.P55L |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2955284T>C,c.701A>G,p.H234R |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2952908A>G,c.935T>C,p.M312T |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2952858G>A,c.985C>T,p.R329C |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2951912A>C,c.1031T>G,p.V344G |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2951840T>C,c.1103A>G,p.E368G |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2951804A>G,c.1139T>C,p.L380S |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2951669G>C,c.1274C>G,p.T425R |
| NOP14(NM_003703,NOP14 nucleolar protein,857aa) | g.4:2950087A>G,c.1331T>C,p.M444T |