Nucleotide substitution: G769A (in exon 2). Nucleotide substitution: T816G (in exon 2). Nucleotide substitution: C1082T (in exon 3). Nucleotide substitution: C1229T (in exon 3). Nucleotide substitution: C1244T (in exon 3). Nucleotide substitutions are relative to the sequence from the "ZimS" haplotype found in a Zimbabwe population.
41bp deletion in the 5' untranslated leader of the distal transcript.
Four base substitutions, a 41 bp deletion in the 5' distal transcript leader (bases 32--72) and 3 base substitutions and a 2 bp insertion within the first intron of the distal transcript.