(A) Sequence map of the p.R53H (c.158G>A) PAH gene mutation. (B) Sequence map of the p.R243Q (c.728G>A) PAH gene mutation. (C) Sequence map of the IVS7+2T>A (c.842+2T>A) PAH gene mutation. (D) Sequence map of the p.R111X (c.331C>T) PAH gene mutation. (E) Sequence map of the p.Y204C (c.611A>G) PAH gene mutation. (F) Sequence map of the p.R413P (c.1238G>C) PAH gene mutation. I: p.R413P homozygous mutation; II: p.R413P heterozygous mutation (arrow indicates the mutation site; horizontal line shows the codon).