Table 1.
High-frequency mutations identified by NGS in HAS
| Gene | Frequency in HAS (n = 24) | Frequency in TCGA | Case | Mutation sites in HAS |
|---|---|---|---|---|
| TP53 | 7 (30.4%) | 48.0% | 3 | c.675_677del:p.225_226del |
| 6 | c.G679C:p.G227R | |||
| 8 | c.G898T:p.E300X | |||
| 9 | c.647_649del:p.216_217del | |||
| 9 | c.647delT:p.I216 fs | |||
| 14 | c.G703T:p.V235F | |||
| 18 | c.443-1G > A | |||
| 19 | c.C551T:p.P184 L | |||
| CEBPA | 5 (21.7%) | 0% | 3 | c.311_313del:p.104_105del |
| 15 | c.563_564insCTC:p.P188delinsPS | |||
| 16 | c.311_313del:p.104_105del | |||
| 17 | c.311_313del:p.104_105del | |||
| 22 | c.311_313del:p.104_105del | |||
| RPTOR | 3 (13.0%) | 4.0% | 9 | c.A2272T:p.N758Y |
| 16 | c.G2780A:p.R927Q | |||
| 19 | c.C1706T:p.P569 L | |||
| WISP3 | 2 (8.7%) | 0.7% | 9 | c.T491A:p.V164E |
| 22 | c.C181T:p.Q61X | |||
| MARK1 | 2 (8.7%) | 2.1% | 11 | c.G131A:p.R44 K |
| 23 | c.G1714A:p.G572S | |||
| CD3EAP | 2 (8.7%) | 2.4% | 8 | c.G522C:p.K174 N |
| 10 | c.C833T:p.P278L |