Polymorphism | Location | Nucleotide change | Amino acid change | Frequency (%) | Detection method | Presence in HGsa |
---|---|---|---|---|---|---|
c.10078C>T | Exon 29 | g.41677C>T | C3289C | 16.4 (18/110) | BsmA I (+) | Yes |
c.10120C>T | Exon 29 | g.41719C>T | G3303G | 4.5 (5/110) | Hph I (+) | Yes |
c.10158G>A | Exon 30 | g.41847G>A | S3316N | 15.5 (17/110) | Bsp1286 I (-) | Yes |
c.10318C>T | Exon 31 | g.43666C>T | S3369S | 0.9 (1/114) | Pvu II (-) | No |
IVS41+20C>T | IVS41 | g.49833C>T | - | 1.0 (4/400) | ASAb | No |