| 基因名 | 突变 |
|---|---|
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17571404T>C,c.275A>G,p.K92R |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17566769C>T,c.327-1G>A,p.109Acceptor |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17566634T>A,c.461A>T,p.E154V |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17566610T>C,c.485A>G,p.N162S |
| NXNL1(NM_138454,nucleoredoxin-like 1,212aa) | g.19:17566562G>A,c.533C>T,p.T178I |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101097758G>A,c.7C>T,p.R3W |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101096930T>C,c.67A>G,p.K23E |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101096869G>A,c.128C>T,p.P43L |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101096484T>C,c.287A>G,p.N96S |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101096303C>A,c.322-1G>T,p.108Acceptor |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101093375C>T,c.743G>A,p.R248Q |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101092588G>A,c.958C>T,p.R320X |
| NXF5(NM_032946,nuclear RNA export factor 5,365aa) | g.X:101092486G>A,c.1060C>T,p.R354W |
| NXF3(NM_022052,nuclear RNA export factor 3,531aa) | g.X:102338185T>A,c.557A>T,p.N186I |
| NXF3(NM_022052,nuclear RNA export factor 3,531aa) | g.X:102334345G>A,c.1277C>T,p.A426V |
| NXF2(NM_022053,nuclear RNA export factor 2,626aa) | g.X:101615548C>T,c.1855G>A,p.A619T |
| NXF2B(NM_001099686,nuclear RNA export factor 2B,626aa) | g.X:101576806G>A,c.1301+1G>A,p.434Donor |
| NXF1(NM_001081491,nuclear RNA export factor 1,356aa) | g.11:62571313C>T,c.166G>A,p.D56N |
| NXF1(NM_001081491,nuclear RNA export factor 1,356aa) | g.11:62569105_62569106insAC,c.640-2insGT,p.214Acceptorins |
| NXF1(NM_001081491,nuclear RNA export factor 1,356aa) | g.11:62569103G>C,c.640C>G,p.L214V |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918933G>A,c.4273G>A,p.E1425K |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918918C>T,c.4258C>T,p.R1420C |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918763A>G,c.4103A>G,p.N1368S |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918720G>A,c.4060G>A,p.V1354M |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918669G>A,c.4009G>A,p.D1337N |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918627C>G,c.3967C>G,p.L1323V |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918593G>T,c.3933G>T,p.E1311D |
| NWD1(NM_001007525,NACHT and WD repeat domain containing 1,1432aa) | g.19:16918459C>T,c.3799C>T,p.R1267C |