| 基因名 | 突变 |
|---|---|
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158655129C>G,c.33G>C,p.E11D |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158655062G>A,c.100C>T,p.R34W |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158655028C>T,c.134G>A,p.R45K |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158654938A>G,c.224T>C,p.I75T |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158653225G>A,c.326C>T,p.S109F |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158653178C>T,c.373G>A,p.A125T |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158651438C>T,c.410G>A,p.R137H |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158651394C>T,c.454G>A,p.D152N |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158651382G>A,c.466C>T,p.R156W |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158648324C>T,c.679G>A,p.E227K |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158648255G>A,c.748C>T,p.R250C |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158648210T>C,c.793A>G,p.N265D |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158647584G>T,c.853C>A,p.P285T |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158645965T>A,c.1078A>T,p.T360S |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158645955T>C,c.1088A>G,p.Y363C |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158644127G>A,c.1342C>T,p.R448W |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158639343C>T,c.1688G>A,p.R563Q |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158637728T>C,c.1958A>G,p.Y653C |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158637704C>T,c.1982G>A,p.R661H |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158636224C>T,c.2102G>A,p.R701H |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158636152C>T,c.2174G>A,p.R725Q |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158632689A>G,c.2267T>C,p.I756T |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158632656C>T,c.2300G>A,p.R767K |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158632531T>C,c.2425A>G,p.I809V |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158631174C>G,c.2490G>C,p.K830N |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158631144C>G,c.2520G>C,p.E840D |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158631106G>C,c.2558C>G,p.T853R |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158627464C>T,c.2608G>A,p.V870M |