Figure 2.
Distribution of mutations identified in patients with CIN according to amino acid changes, reading frameshifts, functional classification, and burden. (A) Distribution of coding somatic non-synonymous variants according to amino acid changes or reading frameshifts. We detected 17 missense mutations, 4 nonsense mutations, 3 frameshift deletions, and 1 splice site mutation in a total of 6 genes. (B) Distribution of coding somatic variants according to functional classification. The majority of the detected mutations affected genes involved in DNA methylation. (C) Distribution of mutations according to mutational burden. Ten patients had 13 mutations with VAF >10% distributed across 6 genes (DNMT3A, n = 4; TET2, n = 3; IDH1/IDH2, n = 3; SRSF2, n = 2; ZRSR2, n = 1). The remaining had 12 mutations with VAF <10% distributed across 2 genes (DNMT3A, n = 8; TET2, n = 4).