Nucleotide substitution: T46C (intron 1). Nucleotide substitution: C160A (intron 1). Nucleotide substitution: T174G (intron 1). Nucleotide substitution: C288A (intron 2). Nucleotide substitution: T516C (coding, synonymous substitution). Nucleotide substitution: T633C (coding, synonymous substitution). Nucleotide substitution: C751G (3' non-coding). Nucleotide substitution: A754G (3' non-coding). Coordinates are such that exon 2 starts at nucleotide position 191.