Table 3 All causal mutations found in our cohort of patients
Exon | cDNA level | Protein level | Allele frequency % (n = 52) | Reference |
|---|---|---|---|---|
3 | c.107C > T | p.Thr36Met | 11.5 | [7] |
5 | c.370C > T | p.Arg124X | 1.9 | [24] |
9 | c.664A > G | p.Ile222Val | 3.8 | [7] |
14 | c.983G > A | p.Arg328Gln | 1.9 | [25] |
22 | c.2264C > T | p.Pro755Leu | 3.8 | [4] |
23 | c.2309delG | p.Gly770AspfsX6 | 1.9 | Novel |
25 | c.2713C > T | p.Gln905X | 1.9 | Novel |
26 | c.2810G > A | p.Trp937X | 1.9 | [22] |
32 | c.4870C > T | p.Arg1624Trp | 5.8 | [6] |
33 | c.5323C > T | p.Arg1775X | 1.9 | [4] |
36 | c.5895dupA | p.Leu1966ThrfsX4 | 5.8 | [7] |
48 | c.7561_7568del8 | p.Ala2521PhefsX59 | 1.9 | Novel |
50 | c.8011C > T | p.Arg2671X | 1.9 | [7] |
51 | c.8114delG | p.Gly2705ValfsX11 | 7.7 | [24] |
56 | c.8792A > C | p.His2931Pro | 1.9 | Novel |
61 | c.10658 T > C | p.Ile3553Thr | 1.9 | [7] |
62 | Deletion of the exon | 1.9 | Novel |