Schematic representation of RUNX1 showing the known germline genetic alterations associated with FPD-MM spectrum phenotypes. Shown are all mutations reported in this study, combined with published RUNX1 single-nucleotide variants (SNVs), small insertions and deletions (Indels), and CNVs annotated to RUNX1C; NM_001754.4; LRG_482. Full-mutation annotations can be found in supplemental Table 1. The numbers of the coding exons and known functional domains are shown within the protein, and the number of amino acids are shown below the diagram. The frequency of recurrent mutations is indicated by (N). For all mutations, the protein changes (p.) are shown, unless specified as splice-site variants (SA or SD). SA, splice acceptor; SD, splice donor.