| 基因名 | 突变 |
|---|---|
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42167208G>A,c.4334C>T,p.S1445L |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42167089T>C,c.4453A>G,p.M1485V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42166540T>A,c.4639A>T,p.S1547C |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42166500C>T,c.4679G>A,p.R1560H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42164560C>T,c.5105G>A,p.R1702H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42164527C>T,c.5138G>A,p.R1713Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42162518G>A,c.5596C>T,p.R1866W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42162517C>T,c.5597G>A,p.R1866Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42162467G>A,c.5647C>T,p.R1883X |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42162157T>C,c.5735A>G,p.H1912R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42160751C>T,c.5902G>A,p.V1968M |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42160382C>T,c.6092G>A,p.R2031Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42160295C>T,c.6179G>A,p.R2060H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42160277G>A,c.6197C>T,p.A2066V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42159290C>T,c.6347G>A,p.R2116Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42158373G>A,c.6685C>T,p.R2229W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42158022C>T,c.6902G>A,p.R2301Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42156129G>C,c.7012C>G,p.R2338G |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42156129G>A,c.7012C>T,p.R2338W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42155970C>T,c.7081G>A,p.E2361K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42154738G>A,c.7384C>T,p.R2462W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42154360G>A,c.7516C>T,p.R2506W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42154081C>T,c.7589G>A,p.R2530Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42154003T>C,c.7667A>G,p.Q2556R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42152851C>T,c.7921G>A,p.G2641S |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42150942G>A,c.8084C>T,p.A2695V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42150888G>A,c.8138C>T,p.T2713I |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42150801C>T,c.8225G>A,p.R2742Q |