| 基因名 | 突变 |
|---|---|
| NHP2(NM_017838,NHP2 ribonucleoprotein,153aa) | g.5:177577923C>T,c.302G>A,p.R101Q |
| NHLRC4(NM_176677,NHL repeat containing 4,123aa) | g.16:618340C>T,c.293C>T,p.A98V |
| NHLRC4(NM_176677,NHL repeat containing 4,123aa) | g.16:618273C>T,c.226C>T,p.P76S |
| NHLRC4(NM_176677,NHL repeat containing 4,123aa) | g.16:618202C>A,c.155C>A,p.A52E |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39622031T>A,c.1012T>A,p.L338M |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39621933C>T,c.914C>T,p.A305V |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39621920A>G,c.901A>G,p.T301A |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39621897T>C,c.878T>C,p.I293T |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39621264A>G,c.766A>G,p.T256A |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39618302T>G,c.662T>G,p.L221R |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39613783C>T,c.320C>T,p.P107L |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39613400T>C,c.212T>C,p.L71P |
| NHLRC3(NM_001012754,NHL repeat containing 3,347aa) | g.13:39613322T>G,c.134T>G,p.L45R |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115668149A>G,c.2035A>G,p.I679V |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115663475G>A,c.1684G>A,p.E562K |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115657944A>G,c.1115A>G,p.D372G |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115644040G>A,c.940G>A,p.V314I |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115636483A>G,c.535A>G,p.I179V |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115636367A>G,c.419A>G,p.N140S |
| NHLRC2(NM_198514,NHL repeat containing 2,726aa) | g.10:115618430T>C,c.322T>C,p.S108P |
| NHLRC1(NM_198586,NHL repeat containing 1,395aa) | g.6:18122806G>T,c.32C>A,p.A11E |
| NHLRC1(NM_198586,NHL repeat containing 1,395aa) | g.6:18122506G>A,c.332C>T,p.P111L |
| NHLRC1(NM_198586,NHL repeat containing 1,395aa) | g.6:18122360A>G,c.478T>C,p.C160R |
| NHLRC1(NM_198586,NHL repeat containing 1,395aa) | g.6:18122357C>T,c.481G>A,p.A161T |
| NHLRC1(NM_198586,NHL repeat containing 1,395aa) | g.6:18121747G>A,c.1091C>T,p.S364L |
| NHLH1(NM_005598,nescient helix loop helix 1,133aa) | g.1:160340621G>A,c.100G>A,p.G34S |
| NHEJ1(NM_024782,nonhomologous end-joining factor 1,299aa) | g.2:220023045C>T,c.40G>A,p.A14T |
| NHEJ1(NM_024782,nonhomologous end-joining factor 1,299aa) | g.2:220022913C>A,c.172G>T,p.A58S |