Table 2.
Class III gene mutation detection results
| Gene | Mutation type | Gene region | Nucleotide change | Amino acid change | Abundance (%) |
|---|---|---|---|---|---|
| DAXX | Non-coding deletion mutation | Exon5 | c.1353_1355delGGA | p.E457delE | 0.033 |
| MKNK1 | Missense mutation | Exon3 | c.13G>A | p.E5K | 0.4267 |
| MSI1 | Non-coding deletion mutation | Exon12 | c.834_842delGGCAGCGGC | p.A279_A281delAAA | 0.0069 |
| PAK1 | Missense mutation | Exon6 | c.545A>C | p.D182A | 0.0025 |
| POLE | Missense mutation | Exon18 | c.1988G>T | p.C663F | 0.459 |
| RET | Missense mutation | Exon8 | c.1618A>G | p.R540G | 0.4874 |
| RET | Missense mutation | Exon3 | c.431G>A | p.R144H | 0.4852 |
| RTEL1 | Missense mutation | Exon31 | c.3135C>A | p.H1045Q | 0.4763 |
| RUNX1T1 | Cutting mutation | Intron | c.28+26833G>C | . | 0.4541 |
| TAP1 | Nonsense mutation | Exon1 | c.135_136delinsAT | p.E46* | 0.4613 |