| 基因名 | 突变 |
|---|---|
| NUPL2(NM_007342,nucleoporin like 2,423aa) | g.7:23224734A>G,c.167A>G,p.N56S |
| NUPL2(NM_007342,nucleoporin like 2,423aa) | g.7:23221811A>G,c.107A>G,p.Q36R |
| NUPL2(NM_007342,nucleoporin like 2,423aa) | g.7:23221797_23221798insCGGCAGCAACCG,c.93_94insCGGCAGCAACCG,p.31_32ins4aa |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25905530G>A,c.1269G>A,p.M423I |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25894688A>G,c.731A>G,p.D244G |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25889495G>A,c.575G>A,p.G192E |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25887871A>G,c.556A>G,p.T186A |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25887836C>G,c.521C>G,p.A174G |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25887811T>C,c.496T>C,p.S166P |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25883399A>G,c.265A>G,p.I89V |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25881982G>A,c.146G>A,p.S49N |
| NUPL1(NM_014089,nucleoporin like 1,599aa) | g.13:25876011G>A,c.100G>A,p.A34T |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3800205T>C,c.253A>G,p.T85A |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3793053C>T,c.709G>A,p.A237T |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3774621T>C,c.1192A>G,p.S398G |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3765808C>T,c.1339G>A,p.A447T |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3744621C>T,c.1912G>A,p.V638I |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3744600G>C,c.1933C>G,p.P645A |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3733840G>A,c.2696C>T,p.T899M |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3733825G>A,c.2711C>T,p.A904V |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3726519C>T,c.2993G>A,p.R998H |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3723822A>G,c.3383T>C,p.V1128A |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3723781G>C,c.3424C>G,p.Q1142E |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3716705T>C,c.4141A>G,p.I1381V |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3704523T>C,c.4825A>G,p.M1609V |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3704509C>G,c.4839G>C,p.K1613N |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3704454G>A,c.4894C>T,p.L1632F |
| NUP98(NM_016320,nucleoporin 98kDa,1800aa) | g.11:3700876C>T,c.4981G>A,p.E1661K |