Figure 3 of Yasmeen, Mol Vis 2010; 16:682-688.

Figure 3. Forward and reverse sequence chromatograms illustrating a single base pair deletion in GALK1. A: Individual 11 homozygous for wild type allele. B: Individual 13 heterozygous for mutant and wild type allele. C: Individual 14 homozygous for the single base pair deletion in exon 3; c.410delG. This deletion leads to a frame shift in the open reading frame of GALK1, which results in a premature termination of the protein: p.G137fsX27.