| 基因名 | 突变 |
|---|---|
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33331451C>T,c.2956C>T,p.P986S |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33331356G>A,c.2861G>A,p.R954H |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33331320G>A,c.2825G>A,p.R942Q |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33331304A>G,c.2809A>G,p.I937V |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33329066C>T,c.2617C>T,p.P873S |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33329049G>A,c.2600G>A,p.R867H |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33329048C>T,c.2599C>T,p.R867C |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33326846T>C,c.2302T>C,p.Y768H |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33324768A>T,c.1835A>T,p.E612V |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33318988A>G,c.1220A>G,p.N407S |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33316491C>G,c.698C>G,p.P233R |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33313129C>T,c.670C>T,p.R224W |
| LIG3(NM_013975,ligase III, DNA, ATP-dependent,1009aa) | g.17:33310496G>A,c.472G>A,p.E158K |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48664732G>A,c.140C>T,p.S47F |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48664717G>A,c.155C>T,p.P52L |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48660361G>A,c.280C>T,p.R94C |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48660360C>T,c.281G>A,p.R94H |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48653093G>A,c.703C>T,p.R235W |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48653050C>T,c.746G>A,p.G249E |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48647192C>T,c.805G>A,p.A269T |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48643312G>A,c.1003C>T,p.L335F |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48643270C>T,c.1045G>A,p.V349M |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48643252G>A,c.1063C>T,p.L355F |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48640928C>T,c.1105G>A,p.V369I |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48640807C>T,c.1226G>A,p.R409H |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48640293G>A,c.1303C>T,p.R435C |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48639372C>T,c.1342G>A,p.G448R |
| LIG1(NM_000234,ligase I, DNA, ATP-dependent,919aa) | g.19:48637292C>A,c.1555G>T,p.V519L |