| 基因名 | 突变 |
|---|---|
| NUP188(NM_015354,nucleoporin 188kDa,1749aa) | g.9:131730825G>A,c.626G>A,p.R209Q |
| NUP188(NM_015354,nucleoporin 188kDa,1749aa) | g.9:131730804G>A,c.605G>A,p.R202H |
| NUP188(NM_015354,nucleoporin 188kDa,1749aa) | g.9:131718657A>G,c.190A>G,p.N64D |
| NUP188(NM_015354,nucleoporin 188kDa,1749aa) | g.9:131710017G>A,c.19G>A,p.G7R |
| NUP188(NM_015354,nucleoporin 188kDa,1749aa) | g.9:131710015G>C,c.17G>C,p.G6A |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47869855C>T,c.118G>A,p.A40T |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47869855C>A,c.118G>T,p.A40S |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47861587T>C,c.556A>G,p.I186V |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47861581T>C,c.562A>G,p.T188A |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47861433C>G,c.710G>C,p.G237A |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47861403T>C,c.740A>G,p.D247G |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47857253T>C,c.1051A>G,p.T351A |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47834555G>A,c.1831C>T,p.R611W |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47834482G>A,c.1904C>T,p.P635L |
| NUP160(NM_015231,nucleoporin 160kDa,1436aa) | g.11:47823416G>A,c.2842C>T,p.R948C |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37349296C>T,c.704G>A,p.R235Q |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37342737C>T,c.830G>A,p.R277H |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37341234C>T,c.1027G>A,p.V343M |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37337934T>C,c.1156A>G,p.M386V |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37331792G>A,c.1447C>T,p.H483Y |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37324190C>A,c.1934G>T,p.C645F |
| NUP155(NM_004298,nucleoporin 155kDa,1332aa) | g.5:37294496T>C,c.3688A>G,p.M1230V |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17706524C>T,c.95G>A,p.G32E |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17688693C>T,c.268G>A,p.D90N |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17675498G>T,c.685C>A,p.P229T |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17675246T>C,c.742A>G,p.I248V |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17669711T>C,c.919A>G,p.T307A |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17669692T>A,c.938A>T,p.Q313L |