| 基因名 | 突变 |
|---|---|
| ELANE(NM_001972,elastase, neutrophil expressed,267aa) | g.19:856015G>A,c.655G>A,p.V219I |
| ELANE(NM_001972,elastase, neutrophil expressed,267aa) | g.19:855624C>T,c.427C>T,p.R143C |
| ELANE(NM_001972,elastase, neutrophil expressed,267aa) | g.19:855570G>A,c.373G>A,p.G125R |
| ELANE(NM_001972,elastase, neutrophil expressed,267aa) | g.19:852912G>A,c.104G>A,p.R35Q |
| ELANE(NM_001972,elastase, neutrophil expressed,267aa) | g.19:852908C>T,c.100C>T,p.R34W |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12921110G>C,c.155C>G,p.S52C |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12921110G>A,c.155C>T,p.S52F |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12920199G>A,c.347C>T,p.S116F |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12916563C>T,c.520G>A,p.E174K |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12915027C>T,c.632G>A,p.R211Q |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12915009G>A,c.650C>T,p.S217L |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12908381C>T,c.908G>A,p.G303D |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12905878C>G,c.1098G>C,p.Q366H |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12903506T>A,c.1390A>T,p.R464W |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12899902C>T,c.1621G>A,p.A541T |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12898308G>A,c.1880C>T,p.S627L |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12898182C>T,c.1928G>A,p.R643Q |
| ELAC2(NM_018127,elaC ribonuclease Z 2,826aa) | g.17:12896244C>T,c.2372G>A,p.R791Q |
| ELAC1(NM_018696,elaC ribonuclease Z 1,363aa) | g.18:48513277G>A,c.914G>A,p.R305H |
| ELAC1(NM_018696,elaC ribonuclease Z 1,363aa) | g.18:48510696T>C,c.388T>C,p.C130R |
| EIF6(NM_181468,eukaryotic translation initiation factor 6,245aa) | g.20:33872215C>A,c.76G>T,p.V26L |
| EIF6(NM_181468,eukaryotic translation initiation factor 6,245aa) | g.20:33871984C>A,c.188G>T,p.C63F |
| EIF5(NM_001969,eukaryotic translation initiation factor 5,431aa) | g.14:103806877A>T,c.1185A>T,p.E395D |
| EIF5(NM_001969,eukaryotic translation initiation factor 5,431aa) | g.14:103805656C>T,c.892C>T,p.R298C |
| EIF5(NM_001969,eukaryotic translation initiation factor 5,431aa) | g.14:103805614C>A,c.850C>A,p.L284I |
| EIF5(NM_001969,eukaryotic translation initiation factor 5,431aa) | g.14:103803507C>G,c.382C>G,p.R128G |
| EIF5B(NM_015904,eukaryotic translation initiation factor 5B,1220aa) | g.2:99998631G>A,c.2071G>A,p.E691K |
| EIF5B(NM_015904,eukaryotic translation initiation factor 5B,1220aa) | g.2:99993019A>G,c.1762A>G,p.S588G |