Fig. 3

Sanger sequencing and ESEfinder results of the branch-site mutation. a Sequencing chromatograms show a heterozygous mutation c.1177–21G > A in FLCN gene. The arrow indicates the position of the nucleotide mutation and the boxed nucleotides indicate the branch site predicted by ESEfinder. b ESEfinder results for the c.1177–21G > A substitution and for the wild type of the branch-site sequence