Skip to main content

Table 1 Candidate somatic mutations identified in each patient

From: A novel somatic mutation in ACD induces telomere lengthening and apoptosis resistance in leukemia cells

Patient Subgroup Gene Genomic change Protein change Class VAF COSMIC v71
Case 1 HD NRAS g.chr1:115258744C > T p.G13D Missense 0.48 Haematopoietic and Lymphoid tissue
ACD/TPP1 g.chr16:67693443C > A p.G223V Missense 0.51 -
DOT1L g.chr19:2191086G > T p.V114F Missense 0.46 -
Case 2 t(12;21) BRAF g.chr7:140481411C > G p.G466A Missense 0.15 Thyroid
HCFC1 g.chrX:153230064A > G p.Y103H Missense 0.51 -
Case 3 CN FLT3 g.chr13:28592642G > T p.D835Y Missense 0.44 Haematopoietic and Lymphoid tissue
  1. Variant allele frequencies (VAF) (number of supporting reads/coverage) were calculated based on ultra-deep targeted re-sequencing data (mean coverage >1800X). Only tissue types harbouring the highest occurrence of the mutation in the COSMIC database (v71) are presented. HD hyperdiploid, CN Cytogenetically normal