| 基因名 | 突变 |
|---|---|
| EPO(NM_000799,erythropoietin,193aa) | g.7:100320450G>A,c.410G>A,p.R137Q |
| EPO(NM_000799,erythropoietin,193aa) | g.7:100320381C>T,c.341C>T,p.P114L |
| EPO(NM_000799,erythropoietin,193aa) | g.7:100320290G>A,c.250G>A,p.G84R |
| EPO(NM_000799,erythropoietin,193aa) | g.7:100319633G>A,c.208G>A,p.D70N |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48619274T>C,c.1655T>C,p.M552T |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48619249C>A,c.1630C>A,p.P544T |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48618931C>G,c.1461C>G,p.S487R |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48618360C>T,c.1186C>T,p.H396Y |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48617647C>A,c.931C>A,p.L311M |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48616617C>T,c.832C>T,p.R278W |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48616320G>A,c.757G>A,p.E253K |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48615458G>T,c.581G>T,p.R194L |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614464C>T,c.547C>T,p.P183S |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614456G>A,c.539G>A,p.R180Q |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614426G>A,c.509G>A,p.R170H |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614395G>A,c.478G>A,p.G160S |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614338C>T,c.421C>T,p.R141W |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614332C>T,c.415C>T,p.R139W |
| EPN3(NM_017957,epsin 3,632aa) | g.17:48614189G>A,c.272G>A,p.R91Q |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19237277G>A,c.1636G>A,p.A546T |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19235304C>T,c.1550C>T,p.A517V |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19235208C>T,c.1454C>T,p.T485I |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19232942C>T,c.1393C>T,p.R465W |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19232159C>T,c.1283C>T,p.A428V |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19232078T>C,c.1202T>C,p.V401A |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19216538C>A,c.1093C>A,p.P365T |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19216512C>T,c.1067C>T,p.P356L |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19215374C>G,c.889C>G,p.L297V |