Schematic illustration of rearrangements in the LDLR gene including DNA sequence of breakpoints. A: promoter_exon2del, B: exon2_6dup, C: exon3_12del and D: exon4_8dup. 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. MER83 repeat is depicted as a green box. Grey boxes represent sequence overlaps between 5'end and 3' end of the reference sequence.