Nucleotide substitution: A327G (5' non-coding). Nucleotide substitution: G504T (5' non-coding). Nucleotide substitution: G642C (5' non-coding). Nucleotide substitution: T846C (3' non-coding). Nucleotide substitution: G1023C (3' non-coding). Coordinates are such that exon 1 starts at nucleotide position 38.