| 基因名 | 突变 |
|---|---|
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54895587G>A,c.6976G>A,p.A2326T |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54891654A>G,c.6485A>G,p.K2162R |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54880806G>A,c.5638G>A,p.D1880N |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54877014A>G,c.5465A>G,p.Q1822R |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54876218A>G,c.5093A>G,p.H1698R |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54874386G>A,c.4985G>A,p.S1662N |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54870254C>A,c.3993C>A,p.D1331E |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54859746G>T,c.3608G>T,p.G1203V |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54858544G>T,c.3360G>T,p.K1120N |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54858253G>T,c.3069G>T,p.E1023D |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54856387G>A,c.2116G>A,p.A706T |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54853229C>T,c.1502C>T,p.A501V |
| SPTBN1(NM_003128,spectrin, beta, non-erythrocytic 1,2364aa) | g.2:54853217A>G,c.1490A>G,p.K497R |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131395594G>A,c.7415G>A,p.R2472H |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131395575G>A,c.7396G>A,p.D2466N |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131395509G>A,c.7330G>A,p.D2444N |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131380339C>T,c.5552C>T,p.A1851V |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131371241A>G,c.4580A>G,p.N1527S |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131371201G>A,c.4540G>A,p.A1514T |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131356486G>A,c.3248G>A,p.R1083H |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131348114G>A,c.2648G>A,p.R883Q |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131345010T>C,c.1688T>C,p.M563T |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131343226C>T,c.1349C>T,p.A450V |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131343207G>A,c.1330G>A,p.V444I |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131341997T>G,c.1303T>G,p.S435A |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131339205T>C,c.755T>C,p.F252S |
| SPTAN1(NM_001130438,spectrin, alpha, non-erythrocytic 1,2477aa) | g.9:131336969C>G,c.379C>G,p.L127V |
| SPTA1(NM_003126,spectrin, alpha, erythrocytic 1 (elliptocytosis 2),2419aa) | g.1:158655137C>A,c.25G>T,p.V9F |