| DNA突变 | 蛋白突变 | 突变频次 | 突变类型 |
|---|---|---|---|
| c.886-31_886-10del | / | 14 | 剪接突变 |
| c.1540C>T | p.P514S | 8 | 错义突变 |
| c.127-16C>A | / | 5 | 剪接突变 |
| c.1420G>C | p.A474P | 3 | 错义突变 |
| c.736C>T | p.P246S | 3 | 错义突变 |
| c.1152_1163del | p.V385_A388del | 2 | 框内缺失突变 |
| c.1343A>G | p.Q448R | 2 | 错义突变 |
| c.1435C>G | p.R479G | 2 | 错义突变 |
| c.1690C>T | p.R564W | 2 | 错义突变 |
| c.229G>C | p.G77R | 2 | 错义突变 |
| c.294C>A | p.F98L | 2 | 错义突变 |
| c.395G>A | p.R132H | 2 | 错义突变 |
| c.877A>T | p.S293C | 2 | 错义突变 |
