| 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) |
|
