| 基因名 | 突变 |
|---|---|
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143552A>G,c.10672T>C,p.W3558R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143533T>G,c.10691A>C,p.N3564T |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143327G>C,c.10765C>G,p.L3589V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143294G>A,c.10798C>T,p.R3600W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143293C>T,c.10799G>A,p.R3600Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143276T>C,c.10816A>G,p.K3606E |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143118T>C,c.10855A>G,p.I3619V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42142107C>T,c.10972G>A,p.E3658K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42142100G>A,c.10979C>T,p.T3660M |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41076555C>G,c.7240C>G,p.P2414A |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41074162G>A,c.6930G>A,p.M2310I |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41073863C>T,c.6631C>T,p.P2211S |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41066141G>A,c.5747G>A,p.R1916Q |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41066140C>T,c.5746C>T,p.R1916W |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41066069G>A,c.5675G>A,p.R1892Q |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41056172C>T,c.4613C>T,p.A1538V |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41056159C>T,c.4600C>T,p.R1534W |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41038676C>T,c.4093C>T,p.R1365W |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41038581G>A,c.3998G>A,p.R1333Q |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41038574G>A,c.3991G>A,p.G1331S |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41029399C>A,c.3710C>A,p.A1237D |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41025652C>G,c.3248C>G,p.A1083G |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41012158C>T,c.1681C>T,p.R561W |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41008716G>A,c.1238G>A,p.R413Q |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41003493C>T,c.766C>T,p.R256W |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41003463C>T,c.736C>T,p.R246C |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41003443A>G,c.716A>G,p.Y239C |
| SPTBN4(NM_020971,spectrin, beta, non-erythrocytic 4,2564aa) | g.19:41003435T>A,c.708T>A,p.N236K |