Figure 5.
HHT patient subcategories and variation. Quantitative phenotypic measurements categorized by presence, absence, and CADD score of variants. Data points represent all datasets captured in the 104 patients across their clinical assessments, plotted according to the presence or absence of variants in the genes for (A) hemoglobin production, (B) red bood cell membrane production, (C) red blood cell enzymes, (D) coagulation and (E) platelets as listed in supplemental Table 1. Two indices are provided for each category of genes, but there were also no differences observed between categories for other indices examined (data not shown).