Figure 6. Sanger sequence traces from CRYBB2 exon 5 and the corresponding region of CRYBB2P1. The representative chromatograms for CRYBB2 are shown for A: VI:12 (affected) and B: VI:11 (unaffected). The section of the sequence that includes the coding sequence is highlighted in gray. All affected family members are heterozygous for all three nonsynonymous changes. In C, the corresponding region of the pseudogene in individual VII:13 is shown for comparison. Chromosome 22 positions are reported using hg19/GRCh37 coordinates.