Fig. 2: A schematic representation of each variant-containing allele, assembled from Sanger sequencing chromatograms.

a SDHB exon 3 locus b NF1 exon 53 locus, and c BRCA2 exon 3 locus. Exon sequences are shaded blue, intron sequences remain unshaded and the mobile element insertions are shaded green. Genomic coordinates are reported according to human reference genome build hg19. Coding nucleotides are reported according to the following transcripts: SDHB, NM_003000.3; NF1, NM_000267.3; and BRCA2, NM_000059.4.