Table 3 Mutation frequency in genes encoding proteins involved in (A) pancreatic secretion and ion homeostasis, (B) autophagy and (C) autoimmune pancreatitis-related genes.

(A) Pancreatic secretion and ion homeostasis

TMPRSS15

14

c.1622A > G

p.Asn541Ser

2 (1.2)

0

14

c.1633A > T

p.Ser545Cys

1 (0.6)

0.055

16

c.1858G > C

p.Asp620His^a

1 (0.6)

NA

21

c.2483A > G

p.Tyr828Cys

1 (0.6)

0.004

23

c.2738C > T

p.Ala913Val

1 (0.6)

0.049

25

c.2960G > A

p.Gly987Asp^a

1 (0.6)

NA

SLC26A3

19

c.2169G > C

p.Lys723Asn

1 (0.6)

0.001

16

c.1711G > A

p.Arg571His^a

1 (0.6)

NA

SLC4A4

9

c.976A > G

p.Ile326Val^a

1 (0.6)

NA

18

c.2179C > T

p.Pro727Ser

3 (1.9)

0

CPB1

6

c.559C > T

p.Gln187Ter

1 (0.6)

0.001

11

c.1246C > T

p.Arg395Trp^a

1 (0.6)

NA

11

c.1207C > G

p.Leu403Val

1 (0.6)

0

F2RL1

2

c.734C > T

p.Ser245Phe

1 (0.6)

0

SLC4A2

10

c.1412G > A

p.Gly471Glu^a

1 (0.6)

NA

RAB27B

4

c.274G > A

p.Ala92Thr

1 (0.6)

0.002

PPY

3

c.236G > A

p.Trp79Stop^a

1 (0.6)

NA

CLPS

4

c.203G > A

p.Arg68His

1 (0.6)

0

(B) Autophagy

HSP90AA1

6

c.1202A > T

p.Lys401Met

1 (0.6)

0.001

LAMP2

6

c.755T > G

p.Ile252Ser

1 (0.6)

0

MAP1LC3B

2

c.73G > C

p.Glu25Gln

1 (0.6)

0.003

(C) Autoimmune pancreatitis-related genes

CA4

8

c.761A > C

p.Gln254Pro

1 (0.6)

0

8

c.923C > A

p.Ala308Asp

1 (0.6)

0.001

ABCF1

16

c.1564G > A

p.Asp552Asn^a

1 (0.6)

NA