| 基因名 | 突变 |
|---|---|
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158627419G>A,c.2653C>T,p.R885C |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158626382G>A,c.2870C>T,p.A957V |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158624528G>T,c.2909C>A,p.A970D |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158622298C>A,c.3334G>T,p.D1112Y |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158621162G>A,c.3472C>T,p.R1158W |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158619728A>C,c.3487T>G,p.S1163A |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158618345C>T,c.3668G>A,p.R1223Q |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158618316C>T,c.3697G>A,p.V1233I |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158617396G>A,c.3829C>T,p.R1277C |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158613136G>A,c.4418C>T,p.T1473M |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158612756G>A,c.4453C>T,p.L1485F |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158612719C>T,c.4490G>A,p.G1497E |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158612645T>C,c.4564A>G,p.T1522A |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158612248A>T,c.4690T>A,p.S1564T |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158612236A>G,c.4702T>C,p.C1568R |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158607935T>G,c.5077A>C,p.K1693Q |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158607919A>G,c.5093T>C,p.V1698A |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158605725G>A,c.5410C>T,p.L1804F |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158604391T>C,c.5507A>G,p.N1836S |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158597507G>C,c.5572C>G,p.L1858V |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158597458C>T,c.5621G>A,p.R1874Q |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158596676G>C,c.5786C>G,p.A1929G |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158592901C>G,c.5992G>C,p.A1998P |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158592847G>A,c.6046C>T,p.R2016C |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158590241C>T,c.6136G>A,p.V2046M |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158590142G>A,c.6235C>T,p.R2079W |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158590018G>C,c.6359C>G,p.T2120S |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158589121G>A,c.6421C>T,p.R2141W |