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