Germ line variants in RUNX1 cohort. The pathologic or likely pathologic germ line variants aligned to NM_001754.4 coding sequence. The type of variant is coded as per the shape and color. Each shape represents one family; similarly, the number in parentheses for deletions/duplications show number of families. Amino acid residue number is indicated by black numbers; exons are indicated by blue and white numbers, with exon boundaries marked by dotted blue lines. RHD, runt homology domain; TAD, transactivation domain.