Table 1 Mutation frequency in (A) genes encoding proteins potentially involved in premature intrapancreatic activation of trypsin and (B) CF modifier genes.

(A) Premature intrapancreatic activation of trypsin

CFTR

1

c.14C > T

p.Pro5Leu

1 (0.6)

0

2

c.91C > T

p.Arg31Cys

3 (1.9)

0.001

3

c.204A > T

p.Lys68Asn

1 (0.6)

0

3

c.220C > T

p.Arg74Trp

1 (0.6)

0.05

3

c.224G > A

p.Arg75Gln

1 (0.6)

0.006

3

c.273G > C

p.Gly91Gly^a

1 (0.6)

NA

4

c.328G > C

p.Asp110His

1 (0.6)

0

4

c.473G > C

p.Ser158Thr

2 (1.2)

0

IVS4

621 + 3A > G

/

2 (1.2)

0

11

c.1521_1523delCTT

p.ΔF508

5 (3.1)

0.05

13

c.1727G > C

p.Gly576Ala

3 (1.9)

0.002

13

c.1736A > G

p.Asp579Gly

1 (0.6)

0

14

c.2002C > T

p.Arg668Cys

3 (1.9)

0.003

15

c.2547C > A

p.Tyr849Stop

1 (0.6)

0

IVS15

2752-15C > G

/

5 (3.1)

0.001

IVS16

2789 + 5G > A

/

1 (0.6)

0

17

c.2813T > G

p.Val938Gly

1 (0.6)

0

18

c.2930C > T

p.Ser977Phe

1 (0.6)

0

19

c.2991G > C

p.Leu997Phe

2 (1.2)

0.002

20

c.3154T > G

p.Phe1052Val

1 (0.6)

0

20

c.3205G > A

p.Gly1069Arg

1 (0.6)

0

21

c.3454G > C

p.Asp1152His

3 (1.9)

0

22

c.3705T > G

p.Ser1235Arg

2 (1.2)

0.002

23

c.3808G > A

p.Asp1270Asn

1 (0.6)

0.005

24

c.3909C > G

p.Asn1303Lys

1 (0.6)

0

2

dele2

/

1 (0.6)

0

KRT8

6

c.1138G > A

p.Val380Ile

1 (0.6)

0

6

c.1300G > A

p.Gly434Ser

2 (1.2)

0.015

PRSS1

3

c.311T > C

p.Leu104Pro

1 (0.6)

0

3

c.365G > A

p.Arg122His

2 (1.2)

0

3

c.416G > T

p.Cys139Phe

2 (1.2)

0

4

c.487G > A

p.Ala163Thr^a

1 (0.6)

NA

4

c.592-11C > T

/

2 (1.2)

0

4

c.592-8C > T

/

2 (1.2)

0

PRSS2

3

c.252T > A

p.Asn84Lys^a

1 (0.6)

NA

4

c.457G > C

p.Asp153His

1 (0.6)

0

4

c.513T > A

p.Cys171Stop

1 (0.6)

0.001

4

c.571G > A

p.Gly191Arg

1 (0.6)

0

4

c.689C > T

p.Thr230Ile^a

1 (0.6)

NA

CTRC

6

c.514A > G

p.Lys172Glu

1 (0.6)

0.031

7

c.674A > C

p.Glu225Ala

1 (0.6)

0

7

c.703G > A

p.Val235Ile

1 (0.6)

0.001

SPINK1

3

c.163C > T

p.Pro55Ser

2 (1.2)

0.003

CASR

4

c.1285C > T

p.His429Tyr^a

1 (0.6)

NA

7

c.2998A > G

p.Arg1000Gly

1 (0.6)

0

CTSB

6

c.281C > T

p.Pro94Leu

1 (0.6)

0.001

10

c.737A > C

p.Asn246Thr

1 (0.6)

0.004

(B) CF modifier genes

TNFRSF1A

9

c.935G > A

p.Arg312Lys

1 (0.6)

0.001

SERPINA1

4

c.552C > G

p.Tyr184Stop

1 (0.6)

0

4

c.187C > T

p.Arg63Cys

1 (0.6)

0.01

5

c.839A > T

p.Asp280Val

2 (1.2)

0

MBL2

2

c.265G > A

p.Gly89Arg^a

1 (0.6)

NA

SCNN1G

5

c.589G > A

p.Glu197Lys

2 (1.2)

0