Patients | Identified Mutations | Other variations | Tn, TGm | Clinical symptoms |
1 | c.2875delG | c.2562 > G, c.4272C > T | 7/7T, 10/12TG | Positive sweat test (Suspicion of CF?) |
2 | - | c.2562 > G, c.4272C > T, c.4389G > A | 7/7T, 10/11TG | Chronic diarrhea, asthma, pancreatitis |
3 | - | c.2562 > G, c.4272C > T, c.1408A > G | 7/9T, 10/10TG | DB |
4 | - | c.2562 > G, c.4272C > T, c.4389G > A | 7/9T, 10/11TG | Hyperechogenecity |
5 | - | c.2562 > G, c.4389G > A | 5/7T, 11/11TG | Infertility |
6 | S1235R | c.2562 > G, c.4389G > A | 5/7T, 11/12TG | Infertility |
7 | L206W | c.256 2> G, c.4389G > A | 7/7T, 10/11TG | Asthma |
8 | D1152H, G85E | c.2562 > G, c.4389G > A, c.1408A > G | 5/7T, 11/12TG | CBAVD |
9 | - | c.2562 > G, c.4389G > A | 7/7T, 10/12TG | Infertility |
10 | - | c.2562 > G, c.4389G > A | 7/7T, 10/12TG | Infertility |
11 | - | c.2562 > G, c.4389G > A | 7/7T, 10/12TG | Infertility |
12 | - | c.2562 > G, c.4389G > A | 7/7T, 10/12TG | Infertility |
13 | - | c.2562 > G, c.4389G > A | 7/7T, 10/12TG | Infertility |
14 | - | c.2562 > G, c.4389G > A, 1408A > G | 7/7T, 10/12TG | Positive sweat test (Suspicion of CF?) |
15 | - | c.2562 > G, c.4389G > A, c.1408A > G | 7/7T, 10/12TG | Hyperechogenicity |
16 | - | c.869 + 11C > T, c.1408A > G, 2694T > G | 7/7T, 10/12TG | DB |