| 基因名 | 突变 |
|---|---|
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120900601A>C,c.1622A>C,p.E541A |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120885395C>T,c.1469C>T,p.P490L |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120885314C>T,c.1388C>T,p.T463M |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120885310G>A,c.1384G>A,p.A462T |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120858380G>T,c.1327G>T,p.D443Y |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120858314A>C,c.1261A>C,p.I421L |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120848049C>T,c.1000C>T,p.H334Y |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120836150del,c.796del,p.266fs |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120834552C>G,c.511C>G,p.L171V |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120799592A>G,c.191A>G,p.K64R |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120776791C>T,c.131C>T,p.T44M |
| EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) | g.2:120776742C>T,c.82C>T,p.R28C |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:112082540C>A,c.187G>T,p.G63C |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:112082510C>T,c.217G>A,p.V73M |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:112020520C>T,c.689G>A,p.R230Q |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:112017854G>A,c.1106C>T,p.T369M |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:112017829T>G,c.1131A>C,p.R377S |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:111970268G>A,c.1814C>T,p.A605V |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:111962554C>A,c.2007G>T,p.K669N |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:111954598G>A,c.2261C>T,p.P754L |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:111945049T>G,c.2447A>C,p.N816T |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:111938909G>T,c.2555C>A,p.T852N |
| EPB41L4B(NM_019114,erythrocyte membrane protein band 4.1 like 4B,900aa) | g.9:111938834G>A,c.2630C>T,p.A877V |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111754732C>T,c.5G>A,p.G2D |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111754696T>C,c.41A>G,p.E14G |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111643180G>A,c.107C>T,p.T36M |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111616010T>C,c.215A>G,p.D72G |
| EPB41L4A(NM_022140,erythrocyte membrane protein band 4.1 like 4A,686aa) | g.5:111611059G>A,c.299C>T,p.A100V |