Carrier frequencies of antithrombin protein C and protein S deficiency variants estimated using a public database and expression experiments

摘要

Genetic deficiencies of antithrombin (AT), protein C (PC), and protein S (PS) are risk factors for venous thromboembolism. In the general population, the prevalence of heterozygous deficiency of AT, PC, and PS are reported as approximately 0.02%‐0.2%, 0.2%‐0.4%, and 0.03%‐0.5%, respectively. The Exome Aggregation Consortium (ExAC) provides a public database containing reference data for over 60 000 exomes.