Primer set Position DNA level Protein level Significance
Ex 3 Intron 3 c.288+41G>A   polymorphism (rs2952976)
Ex 5 Intron 4 c.480-90C>T   polymorphism (rs2905807)
Ex 6 Exon 6 c.625C>T p.Gln209* disease causative mutation
Ex 7 Exon 7 c.702G>A p.Leu234= polymorphism (rs1801052)
Ex 14 Intron 13 c.1528-35T[8]   polymorphism
Ex 18 Exon 18 c.2034G>A p.Pro678= polymorphism (rs2285892)
Ex 27 Intron 26 c.3496+33C>A   polymorphism (rs2066736)
Ex 48 Intron 48 c.7126+37C>G   polymorphism (rs7405740)
Table 1: Summary of detected mutations and polymorphisms.