Figure 3. Chromatograms showing STRA6 sequence variants in subject 11. A and C display the novel missense sequence variant in subject 11 in exon 8. This base pair sequence change of guanine to adenine causes an amino acid change from glycine to glutamic acid at residue 217. B and D display the novel nonsense sequence variant in subject 11 in exon 18. This sequence variant changes the glutamine amino acid residue at position 592 and produces a premature stop codon.