(A) Sequencing results and RFLP analysis (using MunI restriction enzyme) corresponding to the p. I171V variant. Sequencing and SSCP analysis of the variants (B) c.657del5 and (C) p.R215W. The variants are indicated by an arrow. RFLP, restriction fragment length polymorphism; SSCP, single-strand conformation polymorphism; S, sample; p.R215W, reference sequence for heterozygous p.R215W substitution; c.657del5 het, reference sequence for heterozygous c.657del5 mutation; c.657del5 hom, reference sequence for homozygous c.657del5 mutation.