Table 3. Overview of verified known pathogenic mutations and additional detected variants in the validation cohort (n = 41).
All variants are reported as mutations by Cartagenia Bench Lab NGS software (Version 3.1.2).
| Verified known mutations (n = 43) | Additionally detected mutations (n = 36) | ||||
|---|---|---|---|---|---|
| JAK2 | V617F | ASXL1 | G710X | TET2 | L541X |
| Q910TfsX14 | Q1030X | ||||
| NRAS | G13D | L1393GfsX30 | G1137D | ||
| R1415X | L1151R | ||||
| NPM1 | W288CfsX12 | R1261H | |||
| DNMT3A | F751V | G1361C | |||
| TP53 | V216M | R882C | H1381_H1382del | ||
| P222L | V1417F | ||||
| P278T | RUNX1 | N233LfsX50 | V1718L | ||
| H1904R | |||||
| WT1 | D464N | ||||