| 基因名 | 突变 |
|---|---|
| HBS1L(NM_006620,HBS1-like (S. cerevisiae),684aa) | g.6:135323891T>C,c.520A>G,p.M174V |
| HBS1L(NM_006620,HBS1-like (S. cerevisiae),684aa) | g.6:135318006T>G,c.874A>C,p.M292L |
| HBS1L(NM_006620,HBS1-like (S. cerevisiae),684aa) | g.6:135307309C>G,c.1318G>C,p.G440R |
| HBS1L(NM_006620,HBS1-like (S. cerevisiae),684aa) | g.6:135307258G>C,c.1369C>G,p.Q457E |
| HBS1L(NM_006620,HBS1-like (S. cerevisiae),684aa) | g.6:135306521T>C,c.1450A>G,p.I484V |
| HBS1L(NM_006620,HBS1-like (S. cerevisiae),684aa) | g.6:135290440C>T,c.1834G>A,p.V612I |
| HBQ1(NM_005331,hemoglobin, theta 1,142aa) | g.16:231021C>G,c.343C>G,p.P115A |
| HBQ1(NM_005331,hemoglobin, theta 1,142aa) | g.16:230808C>T,c.239C>T,p.A80V |
| HBP1(NM_012257,HMG-box transcription factor 1,514aa) | g.7:106840738A>G,c.1519A>G,p.T507A |
| HBP1(NM_012257,HMG-box transcription factor 1,514aa) | g.7:106820478A>G,c.140A>G,p.Y47C |
| HBM(NM_001003938,hemoglobin, mu,141aa) | g.16:216090T>C,c.92+2T>C,p.31Donor |
| HBG2(NM_000184,hemoglobin, gamma G,147aa) | g.11:5274541C>G,c.410G>C,p.G137A |
| HBG1(NM_000559,hemoglobin, gamma A,147aa) | g.11:5269623G>C,c.410C>G,p.A137G |
| HBEGF(NM_001945,heparin-binding EGF-like growth factor,208aa) | g.5:139725615G>A,c.101C>T,p.A34V |
| HBEGF(NM_001945,heparin-binding EGF-like growth factor,208aa) | g.5:139725589G>A,c.127C>T,p.P43S |
| HBEGF(NM_001945,heparin-binding EGF-like growth factor,208aa) | g.5:139722340T>C,c.278A>G,p.K93R |
| HBE1(NM_005330,hemoglobin, epsilon 1,147aa) | g.11:5290713T>C,c.286A>G,p.K96E |
| HBD(NM_000519,hemoglobin, delta,147aa) | g.11:5255657G>T,c.7C>A,p.H3N |
| HBD(NM_000519,hemoglobin, delta,147aa) | g.11:5255650G>A,c.14C>T,p.T5I |
| HBD(NM_000519,hemoglobin, delta,147aa) | g.11:5255582C>A,c.82G>T,p.A28S |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5248232T>A,c.20A>T,p.E7V |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5248206_5248207insC,c.45_46insG,p.15fs |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5248200T>A,c.52A>T,p.K18X |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5248184T>G,c.68A>C,p.E23A |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5248173C>T,c.79G>A,p.E27K |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5248004del,c.118del,p.40fs |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5247993_5247996del,c.126_129del,p.42fs |
| HBB(NM_000518,hemoglobin, beta,147aa) | g.11:5247859G>T,c.263C>A,p.T88K |