Table 2 Mutation frequency in genes encoding proteins involved in calcium signaling pathways and zymogen granules exocytosis.

PIK3CG

2

c.1325C > A

p.Ser442Tyr

12 (7.4)

0.116

ATP2C2

8

c.661G > T

p.Gly221Trp

1 (0.6)

0.001

18

c.1754C > A

p.Ala585Glu^a

1 (0.6)

NA

21

c.2000C > T

p.Ala667Val^a

1 (0.6)

NA

24

c.2389C > T

p.Arg797Trp

2 (1.2)

0.004

ITPR3

3

c.4014T > A

p.Asp1338Glu

2 (1.2)

0.001

IVS14

c.1551 + 4C > T

/

1 (0.6)

0.002

TRPV5

13

c.1687G > A

p.Ala563Thr

3 (1.9)

0.072

DMBT1

52

c.6814C > T

p.Arg2272Cys

1 (0.6)

0

22

c.2416C > T

p.Arg806Trp

3 (1.9)

0

STIM1

10

c.1310G > A

p.Cys437Tyr^a

1 (0.6)

NA

13

c.1589G > A

p.Arg530His

1 (0.6)

0

13

c.2246G > A

p.Arg749His

1 (0.6)

0

TRPV6

7

c.776T > A

p.Leu259Gln

1 (0.6)

0.001

12

c.1490T > C

p.Met497Thr^a

1 (0.6)

NA

13

c.1391G > A

p.Glu535Lys^a

1 (0.6)

NA

PRKCD

16

c.1501G > T

p.Gly501Trp^a

1 (0.6)

NA

TRPC3

8

c.2185_2185delG

p.Val729Stop^a

1 (0.6)

NA

TRPV1

16

c.2238C > T

p.Asp746 =

1 (0.6)

0.006

GP2

3

c.206T > C

p.Lys69Pro

1 (0.6)

0