| 基因名 | 突变 |
|---|---|
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17665479G>C,c.1206C>G,p.N402K |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17649494G>A,c.1526C>T,p.P509L |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17649473G>A,c.1547C>T,p.P516L |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17649425G>A,c.1595C>T,p.P532L |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17637979A>C,c.1962T>G,p.D654E |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17637697G>C,c.2244C>G,p.D748E |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17637566G>C,c.2375C>G,p.T792R |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17633077T>A,c.2558-2A>T,p.853Acceptor |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17633061C>T,c.2572G>A,p.A858T |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17633033G>C,c.2600C>G,p.S867C |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17629284T>C,c.3239A>G,p.N1080S |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17629272A>G,c.3251T>C,p.I1084T |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17629059T>C,c.3464A>G,p.N1155S |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17626144T>C,c.3889A>G,p.T1297A |
| NUP153(NM_001278209,nucleoporin 153kDa,1506aa) | g.6:17616798C>A,c.4396G>T,p.G1466C |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229636561C>T,c.455G>A,p.S152N |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229631734T>C,c.880A>G,p.I294V |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229631673C>T,c.941G>A,p.R314K |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229623359G>A,c.1196C>T,p.S399F |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229623338T>C,c.1217A>G,p.Q406R |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229623242G>C,c.1313C>G,p.P438R |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229622236G>A,c.1382C>T,p.P461L |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229601256T>C,c.2210A>G,p.Q737R |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229599414C>T,c.2561G>A,p.G854D |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229599316G>A,c.2659C>T,p.R887C |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229594003C>T,c.2885G>A,p.R962H |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229586327C>T,c.3125G>A,p.R1042K |
| NUP133(NM_018230,nucleoporin 133kDa,1156aa) | g.1:229580741C>T,c.3254G>A,p.S1085N |