Table 3. List of genetic variations grouped for gene, relative population frequency and allelic frequencies in the MCT cohort of samples.
| Gene | Intron/Exon | Variation | Population Frequency | Allelic frequencies |
|---|---|---|---|---|
| TET2 | exon 3 | c.732G>A p. = | 3/75 (4%) | G: 0.98, A: 0.02 |
| TET2 | exon 3 | c. 2315G>A: p.Gly772Asp | 4/75 (5.3%) | G: 0.97, A: 0.03 |
| TET2 | intron 3 | c.3439+75del | 6/75 (8%) | T: 0.96, delT: 0.04 |
| TET2 | intron 8 | c.4075-38del | 5/75 (6.67%) | T: 0.97, delT: 0.03 |
| TET2 | intron 10 | c.4212+63_4212+65insCAG | 62/75 (82.7%) | WT: 0.31, insCAG: 0.69 |
| TET2 | intron 10 | c.4568-65C>T | 6/75 (8%) | C: 0.95, T: 0.05 |
| TET2 | exon 11 | c.4914T>C:p = | 58/75 (77.3%) | T: 0.41, C: 0.59 |
| TET2 | exon 11 | c.5213A>G: p.Asn1728Ser | 57/75 (76%) | G: 0.41, A: 0.59 |
| TET2 | exon 11 | c.5278G>A: p.Ala1760Thr | 1/75 (1.33%) | G: 0.01, A: 0.99 |
| IDH1 | intron 2 | c. 292+37T>C | 3/75 (4%) | T: 0.98, C: 0.02 |
| NRAS | intron 2 | c. 290+44C>T | 18/75 (24%) | C: 0.87, T: 0.13 |
| KRAS | intron 1 | c. 93+104A>T | 8/75 (10.67%) | A: 0.95, T: 0.05 |
| KRAS | intron 1 | c. 93+139T>C | 8/75 (10.67%) | T: 0.95, C: 0.05 |
| SRSF2 | intron 1 | 362+59_362+62dup | 21/37 (58%) | WT: 0.64, Dup: 0.36 |