Fig. 2

Chromatogram from Sanger sequencing showing pathogenic heterozygous c.213C > A mutation in CDKN2A of patient germline DNA, the homozygous A allele at c.213 representing loss of heterozygosity in the patient’s lung cancer tissue compared to reference sequence with diagrammatic representation of alternatively spliced products. The CDKN2A gene encodes both p14^ARF (green exons) and p16^INK4A (red exons), generating two transcripts that are translated in alternative reading frames