| 基因名 | 突变 |
|---|---|
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73204634G>A,c.46G>A,p.V16M |
| NUP62(NM_016553,nucleoporin 62kDa,522aa) | g.19:50412788C>T,c.277G>A,p.G93S |
| NUP62(NM_016553,nucleoporin 62kDa,522aa) | g.19:50412743T>C,c.322A>G,p.M108V |
| NUP62(NM_016553,nucleoporin 62kDa,522aa) | g.19:50412728C>T,c.337G>A,p.G113S |
| NUP62(NM_016553,nucleoporin 62kDa,522aa) | g.19:50412650C>T,c.415G>A,p.G139S |
| NUP62(NM_016553,nucleoporin 62kDa,522aa) | g.19:50412238G>A,c.827C>T,p.T276I |
| NUP62(NM_016553,nucleoporin 62kDa,522aa) | g.19:50412217C>G,c.848G>C,p.S283T |
| NUP62CL(NM_017681,nucleoporin 62kDa C-terminal like,184aa) | g.X:106396402A>G,c.530T>C,p.I177T |
| NUP54(NM_017426,nucleoporin 54kDa,507aa) | g.4:77065322G>T,c.275C>A,p.T92K |
| NUP54(NM_017426,nucleoporin 54kDa,507aa) | g.4:77065318_77065319insTGT,c.278_279insACA,p.93ins1aa |
| NUP54(NM_017426,nucleoporin 54kDa,507aa) | g.4:77053834T>C,c.749A>G,p.N250S |
| NUP50(NM_007172,nucleoporin 50kDa,468aa) | g.22:45580462A>G,c.1333A>G,p.M445V |
| NUP50(NM_007172,nucleoporin 50kDa,468aa) | g.22:45579396A>G,c.1199A>G,p.N400S |
| NUP50(NM_007172,nucleoporin 50kDa,468aa) | g.22:45574382G>A,c.604G>A,p.G202R |
| NUP50(NM_007172,nucleoporin 50kDa,468aa) | g.22:45574235G>A,c.457G>A,p.G153R |
| NUP43(NM_198887,nucleoporin 43kDa,380aa) | g.6:150067625C>T,c.7G>A,p.E3K |
| NUP43(NM_198887,nucleoporin 43kDa,380aa) | g.6:150063550G>C,c.478C>G,p.H160D |
| NUP43(NM_198887,nucleoporin 43kDa,380aa) | g.6:150048320T>C,c.928A>G,p.T310A |
| NUP37(NM_024057,nucleoporin 37kDa,326aa) | g.12:102505914T>C,c.253A>G,p.R85G |
| NUP35(NM_138285,nucleoporin 35kDa,326aa) | g.2:184025845A>G,c.967A>G,p.M323V |
| NUP35(NM_138285,nucleoporin 35kDa,326aa) | g.2:184024269T>A,c.792T>A,p.F264L |
| NUP35(NM_138285,nucleoporin 35kDa,326aa) | g.2:184023042G>A,c.641G>A,p.R214H |
| NUP35(NM_138285,nucleoporin 35kDa,326aa) | g.2:183998325T>C,c.371T>C,p.V124A |
| NUP35(NM_138285,nucleoporin 35kDa,326aa) | g.2:183995175G>T,c.241G>T,p.A81S |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134074288G>A,c.5407G>A,p.A1803T |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134074264G>C,c.5383G>C,p.G1795R |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134074132A>G,c.5251A>G,p.S1751G |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134073898G>C,c.5017G>C,p.V1673L |