| 基因名 | 突变 |
|---|---|
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111601983C>T,c.380G>A,p.R127H |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111601969C>T,c.394G>A,p.V132I |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111600618T>C,c.529A>G,p.I177V |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111575375C>T,c.947G>A,p.R316H |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111570426C>T,c.992G>A,p.R331Q |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111545670C>G,c.1097G>C,p.S366T |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111545608C>T,c.1159G>A,p.A387T |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111540160G>A,c.1288C>T,p.R430C |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111540145T>C,c.1303A>G,p.K435E |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111540123C>T,c.1325G>A,p.R442Q |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111530284A>G,c.1483T>C,p.Y495H |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111519758T>A,c.1577A>T,p.N526I |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111519740T>C,c.1595A>G,p.N532S |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111504786T>C,c.1756A>G,p.I586V |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111504782C>A,c.1760G>T,p.R587L |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111504479C>T,c.1889G>A,p.R630H |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111504444C>A,c.1924G>T,p.V642F |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111500816_111500817insTAAAA,c.1933-1insTTTTA,p.645Acceptorins |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111500730G>A,c.2018C>T,p.T673I |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111500707G>A,c.2041C>T,p.R681C |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5478295C>A,c.326G>T,p.S109I |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5434031G>C,c.695C>G,p.T232S |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5419856C>T,c.1360G>A,p.A454T |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5419723C>T,c.1493G>A,p.R498Q |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5416299G>A,c.1585C>T,p.R529C |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5416221C>T,c.1663G>A,p.A555T |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5416160T>C,c.1724A>G,p.Y575C |
| EPB41L3(NM_012307,erythrocyte membrane protein band 4.1-like 3,1087aa) | g.18:5415927C>T,c.1957G>A,p.A653T |