| 基因名 | 突变 |
|---|---|
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149854G>A,c.8281C>T,p.R2761X |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149638C>T,c.8419G>A,p.E2807K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149596C>G,c.8461G>C,p.G2821R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149575T>C,c.8482A>G,p.T2828A |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149506G>C,c.8551C>G,p.Q2851E |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149488C>T,c.8569G>A,p.G2857S |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42149472T>C,c.8585A>G,p.Q2862R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42148796T>A,c.8809A>T,p.N2937Y |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42148736A>G,c.8869T>C,p.Y2957H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42148718C>T,c.8887G>A,p.G2963R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42148652G>A,c.8953C>T,p.R2985W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42147933G>A,c.9032C>T,p.A3011V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42147846C>T,c.9119G>A,p.R3040Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42147570C>T,c.9275G>A,p.R3092Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42147460C>T,c.9385G>A,p.E3129K |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42146987C>T,c.9611G>A,p.R3204H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145973C>A,c.9787G>T,p.A3263S |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145936G>C,c.9824C>G,p.A3275G |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145904G>A,c.9856C>T,p.P3286S |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145593C>T,c.10033G>A,p.D3345N |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145586G>A,c.10040C>T,p.A3347V |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145506G>A,c.10120C>T,p.R3374W |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145167C>T,c.10202G>A,p.R3401Q |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145135G>A,c.10234C>T,p.R3412C |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145100C>A,c.10269G>T,p.Q3423H |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42145083A>G,c.10286T>C,p.L3429P |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42144480A>C,c.10484T>G,p.L3495R |
| SPTBN5(NM_016642,spectrin, beta, non-erythrocytic 5,3674aa) | g.15:42143560G>A,c.10664C>T,p.S3555L |