| 基因名 | 突变 |
|---|---|
| SPTB(NM_001024858,spectrin, beta, erythrocytic,2328aa) | g.14:65216718T>G,c.6757A>C,p.K2253Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42185482G>A,c.214C>T,p.Q72X |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42185258G>A,c.218C>T,p.A73V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42185151G>A,c.325C>T,p.R109C |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42180157G>T,c.628C>A,p.L210M |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42179601C>T,c.698G>A,p.R233H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42179488T>C,c.811A>G,p.M271V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42179424C>T,c.875G>A,p.R292K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42178339G>A,c.1114C>T,p.R372W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42178155T>C,c.1298A>G,p.H433R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42178122T>C,c.1331A>G,p.D444G |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42177985C>T,c.1468G>A,p.A490T |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42177973G>A,c.1480C>T,p.R494W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42177954C>T,c.1499G>A,p.S500N |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42175584C>T,c.1621G>A,p.E541K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42172471C>T,c.2698G>A,p.G900S |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42171956C>T,c.2918G>A,p.R973Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42171655C>A,c.2985G>T,p.Q995H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42171591G>A,c.3049C>T,p.R1017X |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42171537A>G,c.3103T>C,p.C1035R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42171483G>A,c.3157C>T,p.H1053Y |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42171462C>T,c.3178G>A,p.V1060I |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42170595G>A,c.3415C>T,p.R1139W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42169318A>G,c.3707T>C,p.L1236P |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42169055C>T,c.3803G>A,p.R1268Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42168400C>T,c.4034G>A,p.R1345H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42168368C>T,c.4066G>A,p.E1356K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42168334C>G,c.4100G>C,p.R1367T |