Fig. 1
From: Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension
Flow chart of variant characterization process. Variants were firstly characterised by their population frequency in the genome aggregation database (GnomAD). Those with a frequency above 0.5% were excluded from further analysis. Secondly, all available evidence for each variant was taken into consideration to obtain a final classification. Likely pathogenic and pathogenic variants were termed “mutations”