Table 1.
Missense variants identified by NGS in an ET case.
| Gene | Genotype | Variant allele freq | Protein position | Amino acids | Sift | PolyPhen | dbSNP ID |
|---|---|---|---|---|---|---|---|
| GATA2 | het | 0.6 | 164 | A/T | Tolerated (0.68) | Benign (0.008) | rs2335052 |
| TET2 | het | 0.5 | 29 | P/R | Deleterious (0.01) | Possibly damaging (0.628) | rs12498609 |
| TET2 | het | 0.5 | 1762 | I/V | Tolerated (0.32) | Benign (0.029) | rs2454206 |
| CDKN2A | het | 0.3 | 76 | A/V | Tolerated (0.34) | Benign (0.01) | – |
| NOTCH1 | het | 0.3 | 1731 | P/L | Tolerated (0.06) | Benign (0.143) | – |
| NOTCH1 | het | 0.3 | 1731 | P/S | Tolerated (0.3) | Benign (0.022) | – |
| TP53 | het | 0.2 | 379 | R/C | Tolerated (0.12) | Benign (0.003) | – |
| CBLC | het | 0.4 | 435 | P/S | Tolerated (0.09) | Benign (0.021) | rs116023028 |
| ASXL1 | hom | 1 | 815 | L/P | Tolerated (0.17) | Benign (0) | rs6058694 |
| BCOR | het | 0.2 | 1701 | V/G | Deleterious (0.02) | Benign (0.249) | rs200163930 |
| BCORL1 | hom | 1 | 111 | F/L | Tolerated (1) | Unknown (0) | rs4830173 |
Bold items mean that these variants were found to be deleterious on prediction models (SIFT and Polyphen).