Table 3. categories of gene mutations in CTEPH patients and PE without PH patients.
Patient | Point mutation | large size rearrangement | Total | ||
---|---|---|---|---|---|
Synonymous | missense | VUS | |||
CTEPH | 3 | 16 | 9 | 5 | 33 |
PE without PH | 2 | 1 | 0 | 4 | 7 |
Total | 5 | 17 | 9 | 9 | 40 |
CTEPH: chronic thromboembolic pulmonary hypertension; PE: pulmonary embolism; PAH: pulmonary arterial hypertension; VUS: variant of unknown significance.