| 基因名 | 突变 |
|---|---|
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134073793G>A,c.4912G>A,p.V1638I |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134073785T>C,c.4904T>C,p.F1635S |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134073158_134073159insT,c.4277_4278insT,p.1426fs |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134050985G>A,c.3296G>A,p.R1099Q |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134049589G>A,c.3041G>A,p.R1014Q |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134027192A>G,c.2347A>G,p.R783G |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134027138A>G,c.2293A>G,p.I765V |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134026097G>T,c.2222G>T,p.R741L |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134026043G>A,c.2168G>A,p.R723Q |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134020092C>T,c.1720C>T,p.P574S |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134020086A>G,c.1714A>G,p.M572V |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134019979C>T,c.1607C>T,p.A536V |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134019967C>T,c.1595C>T,p.P532L |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134016059G>A,c.1256G>A,p.R419Q |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134014761G>A,c.1099G>A,p.V367I |
| NUP214(NM_005085,nucleoporin 214kDa,2090aa) | g.9:134010381A>G,c.928A>G,p.I310V |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13421162C>T,c.877G>A,p.E293K |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13421150C>T,c.889G>A,p.A297T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13419021C>T,c.1087G>A,p.G363S |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13417828G>A,c.1256C>T,p.T419M |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13417817C>T,c.1267G>A,p.A423T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13413520C>T,c.1600G>A,p.E534K |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13407559C>T,c.1819G>A,p.G607S |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13407556T>C,c.1822A>G,p.I608V |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13401904C>T,c.2020G>A,p.E674K |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13399853G>T,c.2197C>A,p.P733T |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13399786G>A,c.2264C>T,p.A755V |
| NUP210(NM_024923,nucleoporin 210kDa,1887aa) | g.3:13395579C>A,c.2357G>T,p.R786L |