Nucleotide substitution: C70T (5' non-coding). Nucleotide substitution: G642C (5' non-coding). Nucleotide substitution: T292A (intron 1). Nucleotide substitution: C648T (intron 2). Nucleotide substitution: G889T (3' non-coding). Coordinates are such that exon 1 starts at nucleotide position 38.