Table 1 Main demographic characteristics and genotype of patients with congenital chloride diarrhea

1

6.5 y

16 y

M

Caucasian

70

c.1484A > C*

Missense

c.1640C > A*

2

4 m

3 y

M

Caucasian

22

c.386C > T

Missense

c.386C > T

3

6 y

12 y

M

Caucasian

32

c.1008-151_2061 + 1546del*

Deletion

c.1008-151_2061 + 1546del*

4

3 m

18 y

F

Caucasian

58

c.2132 T > G

Nonsense

c.2132 T > G

5

1 m

18 y

M

African

55

c.559G > T

Nonsense

c.559G > T

6

1 m

15 y

M

African

57

c.559G > T

Nonsense

c.559G > T

7

10 m

1.5 y

M

Caucasian

10

c.1408-G > C*

Splicing

c.1408-G > C*