| 基因名 | 突变 |
|---|---|
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3697594C>T,c.5198G>A,p.R1733H |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56875731G>A,c.1966G>A,p.E656K |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56870627A>C,c.1528A>C,p.K510Q |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56868657T>G,c.1380T>G,p.I460M |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56867237C>T,c.1087C>T,p.R363C |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56865830C>T,c.793C>T,p.R265W |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56864512G>A,c.631G>A,p.A211T |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56857680C>T,c.347C>T,p.T116M |
| NUP93(NM_001242795,nucleoporin 93kDa,696aa) | g.16:56852645C>T,c.190C>T,p.R64W |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5322952G>C,c.19C>G,p.P7A |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5322946C>A,c.25G>T,p.G9C |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5322774C>T,c.197G>A,p.G66E |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5317417T>C,c.505A>G,p.T169A |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5308411A>G,c.1010T>C,p.V337A |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5292275G>A,c.1490C>T,p.T497I |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5292191G>A,c.1574C>T,p.T525I |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5291126T>C,c.1742A>G,p.D581G |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5290414G>A,c.1933C>T,p.H645Y |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5289554T>C,c.2198A>G,p.N733S |
| NUP88(NM_002532,nucleoporin 88kDa,741aa) | g.17:5289546G>A,c.2206C>T,p.R736C |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73230816G>A,c.1700G>A,p.R567Q |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73230779G>A,c.1663G>A,p.D555N |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73227493A>G,c.1153A>G,p.K385E |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73221869G>A,c.932G>A,p.R311Q |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73221527G>A,c.823G>A,p.A275T |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73221446A>G,c.742A>G,p.T248A |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73211867A>G,c.424A>G,p.M142V |
| NUP85(NM_024844,nucleoporin 85kDa,656aa) | g.17:73204644A>G,c.56A>G,p.K19R |