Aberrant splicing events in patients with RUNX1 splice-site variants. (A) Splice junctions and covered reads from exons 2 to 6 of RUNX1 in a heathy donor BM sample. (B-E) Splice junctions and covered reads in 4 patients with different RUNX1 splice-site or splice-region mutations. Orange or purple lines indicate abnormal junctions and blue lines indicate junctions also seen in the healthy control. Numbers indicate supporting read counts. (F) Splice junctions and covered reads from exons 6 to 9, in a heathy donor BM sample. (G) Splice junctions and covered reads in a patient with c.967+2_967+5delTAAG mutation. (H-I) Detailed information of cryptic splice donors and abnormal splice junctions caused by c.508+3delA, c.508G>C, and c.967+2_967+5delTAAG. (J) Predicted protein products of the 6 abnormal splicing transcripts shown in panels B-E and G. HD, healthy donor; Mut, mutation; WT, wild-type.