Figure 2.
Sequencing chromatograms of XPA and XPC mutations identified in our cohort. The figure shows three previously reported XPA (NM_000380.3) mutations (A–C), four previously reported XPC (NM_004628.4) mutations (D–G), and six novel XPC mutations (H–M). Wildtype sequences are shown above each chromatogram, deletions and insertions are underlined for illustration, and black arrows point towards single base changes. In (G), the change at (−6) is a benign single nucleotide polymorphism (SNP; rs2279017).
