| 基因名 | 突变 |
|---|---|
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13395475G>C,c.2461C>G,p.P821A |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13393630C>T,c.2683G>A,p.V895M |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13393426C>T,c.2788G>A,p.A930T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13384748A>G,c.2891T>C,p.V964A |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13384742G>A,c.2897C>T,p.P966L |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13383511G>A,c.3077C>T,p.P1026L |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13383363T>C,c.3113A>G,p.D1038G |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13383322C>T,c.3154G>A,p.G1052S |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13383315G>C,c.3161C>G,p.T1054S |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13383282C>A,c.3194G>T,p.G1065V |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13381455C>T,c.3370G>A,p.A1124T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13381419C>T,c.3406G>A,p.G1136S |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13379372G>A,c.3517C>T,p.R1173C |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13376973G>C,c.3824C>G,p.S1275W |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13373830T>C,c.3898A>G,p.M1300V |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13372091C>T,c.3979G>A,p.E1327K |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13370299T>C,c.4258A>G,p.S1420G |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13368891C>T,c.4333G>A,p.V1445I |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13368741C>T,c.4483G>A,p.A1495T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13367357G>A,c.4582C>T,p.R1528W |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13367356C>T,c.4583G>A,p.R1528Q |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13361391A>G,c.5255T>C,p.L1752S |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13361287C>T,c.5359G>A,p.V1787M |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13360763C>T,c.5446G>A,p.A1816T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13360637G>A,c.5498C>T,p.T1833M |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13360604G>A,c.5531C>T,p.T1844M |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13359272G>A,c.5573C>T,p.A1858V |
| NUP210L(NM_207308,nucleoporin 210kDa-like,1888aa) | g.1:154127427G>A,c.94C>T,p.R32C |