Polymorphisms | Patients | Amino acid | Nucléotide | Exon/intron |
---|---|---|---|---|
1 | Patient 6 | L67M | CTG > ATG | Exon 2 |
2 a | Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 | H236H | CAC > CAT | Exon 7 |
3 a | Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 | E477E | GAG > GAA | Exon 13 |
4 | Patient 7 | IVS13+75T-A* | GTG > GAG | Intron 13 |
5 | Patient 7 | IVS3+684C-A* | AAC > ACC | Intron 3 |
6a | Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 | - | A > G | Intron 5 |
7 a | Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 | - | A > T | Intron 7 |
8 a | Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 | A393S | GCC > TCC | Exon 11 |
9 a | Patient 1, patient 2, patient 3, patient 4, patient 5, patient 6, patient 7 | - | A > G | Exon 14 |