Table 4 List of patients with mutations in CFTR gene and variants in genes involved in the intrapancreatic activation of trypsin and of the other pancreatic pathways.

7

F508del/D1152H^a

T230I

TRPV5, SLC4A4, PIK3CG

24

G91G/F508del^a

V253I

MAP1LC3B, PRKCD

62

K68N/2752-15C > G^a

MBL2, SLC4A4

17

CFTRdele2(ins182)/D579G

SCNN1G, SLC26A3

67

Y849X/D1152H^a

TRPV6

36

F508del/D1152H^a

54

P5L/N1303K^a

6

[R74W;D1270N]^b

G434S

D153H

N246T

CLPS, TMPRSS15, CPB1

35

[G576A;R668C]^b

C139F

STIM1, TRPV1, TMPRSS15

13

[G576A;R668C]^b

52

[G576A;R668C]^b

25

S158T

G191R

37

D110H

N84K

PIK3CG

46

S1235R

P94L

PIK3CG

61

V938G

P55S

1

2789 + 5G > A

STIM1

11

621 + 3A > G

SLC26A3

26

G1069R

TRPV6, DMBT1

32

2752-15C > G

ATP2C2, PIK3CG

49

2752-15C > G

CA4

65

2752-15C > G

ITPR3, TMPRSS15

53

F1052V

TMPRSS15, ATP2C2

63

R75Q

ATP2C2

77

L997F

TGFB1, TRPV6

45

S977F

MBL2

68

L997F

DMBT1

50

S1235R

28

2752-15C > G

10

621 + 3A > G

15

R31C

16

R31C

34

R31C

4

L104P

TRPV1

29

C139F

TRPV5

51

A163T

SLC4A4

55

R1000G

LAMP2, SLC4A2

59

H429Y

TMPRSS15

71

K172E

RAB27B, SERPINA1

79

P55S

20

G434S

TNFRSF1A

69

R122H

E225A

9

C171X

72

R122H

DMBT1

42

V380I