Position, characterization, and frequencies of different RUNX1 mutations. The position of all analyzed exons with numbering of the exons and indication of the numbers of amino acids (AAs) is shown at the top. Below a scheme with the position of the functional domains RHD and TAD. Below the scheme the positions of the mutations are depicted in 4 different rows differentiated according to the presence in (1) heterozygous cases (mutation/wt ratio of ≤ 1), only 99 of 101 of these heterozygous cases are depicted, because 2 were below detection limit of Sanger sequencing; (2) cases with an LOH pattern (mutation/wt ratio of > 1); (3) cases with 2 different heterozygous mutations; and (4) cases with 1 LOH type and 1 heterozygous mutation. Different colors indicate whether the mutations are of missense (black), nonsense (red), frameshift (green), insdel (insertion/deletion) (blue), or of the ExScip (exon skipping) (yellow) type. The table below summarizes the results with respect to frequency and position of the different RUNX1 mutations. Because 2 of the total 164 were not further characterized by sequencing because of mutation load of < 20%, only 162 mutations are depicted.