Pedigree of the analyzed family and confirmation of mutation by Sanger sequencing. A) The index patient is IV.7. The family members selected for whole-exome sequencing are III.3, III.18, and IV.7. Elevated LDL-C levels are shown as half filled symbols. Mutation carriers are shown as G/A and non-carriers as G/G. B) Confirmation of the nucleotide substitution in the acceptor splice-site of exon 10, c.1359-1G > A by Sanger sequencing. Shown is the sequence of the index patient IV.7. The black arrow points to the heterozygote position.