Figure 1: Allelic phase analysis for Q397SfsX1 (at cDNA position c.1187) and R439X (at cDNA position c.1315); A: sequence of generic PCR product made of both alleles, demonstrating a heterozygous C→T substitution at position c.1315; B: sequence of allele specific PCR product made of c.1187C wildtype allele, demonstrating a C→T substitution at position c.1315; C: sequence of allele specific PCR product made of c.1187C deletion allele, demonstrating a wildtype C nucleotide at position c.1315.