HHM genomics cohorts. Germ line variants in the HHM cohorts were visualized using the ProteinPaint web application.30 Carriers-with HM cohorts (diagnosed with HM) are visualized above the protein. Carriers-without HM cohorts (no HM diagnosis) are below the protein. Variants (displayed as protein changes where possible) are color coded by variant type. The number of individuals with each variant is indicated within the circle when the number is greater than 1. (A) Germ line RUNX1 (66 carriers-without HM and 52 carriers-with HM individuals); (B) Germ line GATA2 (9 carriers-without HM and 13 carriers-with HM individuals); and (C) Germ line DDX41 (22 carriers-without HM and 29 carriers-with HM individuals) cohorts.
