Genetic defects in erythroblast of patients with RS-phenotype. (A) VAFs of TP53 and SRSF2 mutations detected in MNC fractions (determined by WES) and erythroblast fraction (determined by amplicon-based sequencing). (B) Correlation between VAFs in erythroblast fractions (VAF indicated on left y-axis) and observed RS percentages (percentage indicated on right y-axis). Different colors represent individual mutations (as indicated in legend of Figure 4A). (C) Differences observed in SNP array results between MNC- and EB fractions, figure shows screenshots taken from Chromosome Analysis Suite software package (Affymetrix). (D) Relative changes in RS percentage of patients who received treatment, the RS percentage at follow-up examination (Posttreatment) are displayed relative to the RS percentages determined at diagnosis (Diagnosis). Blue lines indicate patients who responded to therapy, and red lines indicate patients who did not respond (supplemental Table 4).