Schematic illustration of rearrangements in the LDLR gene including DNA sequence of breakpoints. A: exon5_10del, B: exon9_14del, C: exon9_15del and D: exon16_18dup. Consensus Alu sequences are depicted as red and blue boxes, their monomer subunits are given in dark and light tones. Sense orientation is marked by a darker tone of the first monomer of the Alu consensus sequence, the opposite order marks antisense orientation. Grey boxes represent sequence overlaps between 5' end and 3' end of the reference sequence.