Nucleotide substitution: T327G (intron 2). Nucleotide substitution: C330T (intron 2). Nucleotide substitution: G462A (coding, synonymous substitution). Nucleotide substitution: T516C (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.