| 基因名 | 突变 |
|---|---|
| NAF1(NM_138386,nuclear assembly factor 1 ribonucleoprotein,494aa) | g.4:164085425T>C,c.484A>G,p.I162V |
| NAF1(NM_138386,nuclear assembly factor 1 ribonucleoprotein,494aa) | g.4:164054373T>G,c.966A>C,p.E322D |
| NAF1(NM_138386,nuclear assembly factor 1 ribonucleoprotein,494aa) | g.4:164050186C>T,c.1348G>A,p.G450S |
| NAF1(NM_138386,nuclear assembly factor 1 ribonucleoprotein,494aa) | g.4:164050156G>A,c.1378C>T,p.P460S |
| NAE1(NM_001018159,NEDD8 activating enzyme E1 subunit 1,528aa) | g.16:66860477G>A,c.149C>T,p.S50L |
| NAE1(NM_001018159,NEDD8 activating enzyme E1 subunit 1,528aa) | g.16:66857169C>T,c.344G>A,p.C115Y |
| NAE1(NM_001018159,NEDD8 activating enzyme E1 subunit 1,528aa) | g.16:66847575C>T,c.908G>A,p.R303H |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71212387G>A,c.2110G>A,p.G704S |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71209534A>G,c.2030A>G,p.N677S |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71202944G>A,c.1759G>A,p.D587N |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71202021A>C,c.1693A>C,p.S565R |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71196660C>T,c.1528C>T,p.L510F |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71196591C>T,c.1459C>T,p.R487X |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71195477C>T,c.1439C>T,p.A480V |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71195398G>A,c.1360G>A,p.V454I |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71195389G>A,c.1351G>A,p.V451M |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71193951C>A,c.1207C>A,p.Q403K |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71193059G>A,c.1138G>A,p.V380M |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71191891G>A,c.964G>A,p.E322K |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71191817C>T,c.890C>T,p.P297L |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71184678A>C,c.612A>C,p.Q204H |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71183520C>T,c.433C>T,p.R145W |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71175160C>T,c.379C>T,p.R127C |
| NADSYN1(NM_018161,NAD synthetase 1,706aa) | g.11:71169547G>C,c.220G>C,p.V74L |
| NADK(NM_001198994,NAD kinase,591aa) | g.1:1691342C>G,c.264-1G>C,p.88Acceptor |
| NADK(NM_001198994,NAD kinase,591aa) | g.1:1691267G>A,c.338C>T,p.T113I |
| NADK(NM_001198994,NAD kinase,591aa) | g.1:1691199C>T,c.406G>A,p.G136S |
| NADK(NM_001198994,NAD kinase,591aa) | g.1:1691176T>G,c.429A>C,p.E143D |