Table 1 Genotypes and clinical features in 40 IBDD cases

1

c.4_5delCT^#

c.842-1G > A^#

P/P

20.7

31

1.86 ↑

0.16 ↑

1.14 ↑

④

(p.L2Vfs*40)

2

c.286G > A

c.286G > A

LP/LP

30

30

1.79 ↑

0.11 ↑

1.28 ↑

③

(p.G96S)

(p.G96S)

3

c.286G > A

c.1176G > T

LP/LP

30

25.5

1.5 ↑

0.11 ↑

1.02 ↑

–

(p.G96S)

(p.R392S)

4

c.1000C > T

c.235C > G

LP/LP

27.2

24.7

1.2 ↑

0.1 ↑

1.5 ↑

–

(p.R334C)

(p.R79G)

5

c.286G > A

c.286G > A

LP/LP

30

30

1.24 ↑

0.05

0.98 ↑

④

(p.G96S)

(p.G96S)

6

c.286G > A

c.911A > T^#

LP/VUS

30

31

1.57 ↑

0.13 ↑

0.86 ↑

–

(p.G96S)

(p.Q304L)

7

c.286G > A

–

LP/?

30

–

1.06 ↑

0.07 ↑

0.7 ↑

④

(p.G96S)

8

c.286G > A

c.455 T > C

LP/LP

30

27.4

2.55 ↑

0.18 ↑

2.48 ↑

–

(p.G96S)

(p.M152T)

9

c.286G > A

c.712delT

LP/P

30

35

1.66 ↑

0.21 ↑

3.07 ↑

②

(p.G96S)

p.W238 fs*9

10

c.286G > A

c.286G > A

LP/LP

30

30

1.66 ↑

0.1 ↑

1.71 ↑

②④

(p.G96S)

(p.G96S)

11

c.1000C > T

c.286G > A

LP/ LP

27.2

30

1.86 ↑

0.15 ↑

1.84 ↑

③④

(p.R334C)

(p.G96S)

12

c.1000C > T

c.286G > A

LP/ LP

27.2

30

2.02 ↑

0.09 ↑

1.64 ↑

②④

(p.R334C)

(p.G96S)

13

c.286G > A

c.235C > G

LP/LP

30

24.7

2.88 ↑

0.13 ↑

1.18 ↑

③④

(p.G96S)

(p.R79G)

14

c.286G > A

c.444G > T

LP/LB

30

4.199

1.16 ↑

0.04

0.56 ↑

②

(p.G96S)

(p.P148P)

15

c.286G > A

c.413delA^#

LP/P

30

23.4

1.67 ↑

0.1 ↑

1.01 ↑

④

(p.G96S)

(p.N138Mfs*36)

16

c.286G > A

c.286G > A

LP/LP

30

30

2.96 ↑

0.11 ↑

1.55 ↑

③

(p.G96S)

(p.G96S)

17

c.413delA^#

c.500delG^#

P/P

23.4

25.3

1.59 ↑

0.11 ↑

1.92 ↑

–

(p.N138Mfs*36)

(p.S167Mfs*7)

18

c.286G > A

c.286G > A

LP/LP

30

30

1.8 ↑

0.09 ↑

0.81 ↑

–

(p.G96S)

(p.G96S)

19

c.110-2A > T^#

c.109C > T#

P/LP

32

23.8

1.86 ↑

0.1 ↑

2.21 ↑

④

(p.P37S)

20

c.1176G > T

c.444G > T

LP/LB

25.5

4.199

0.98 ↑

0.05

0.58 ↑

–

(p.R392S)

(p.P148P)

21

c.286G > A

c.286G > A

LP/LP

30

30

1.43 ↑

0.08 ↑

0.88 ↑

③④

(p.G96S)

(p.G96S)

22

c.259G > A^#

c.1000C > T

VUS/LP

27.1

27.2

1.9 ↑

0.23 ↑

2.84 ↑

④

(p.G87R)

(p.R334C)

23

c.500delG#

c.758 T > G#

P/VUS

25.3

28.5

3.36 ↑

0.12 ↑

0.85 ↑

–

(p.S167Mfs*7)

(p.V253G)

24

c.1176G > T

c.1176G > T

LP/LP

25.5

25.5

2.33 ↑

0.07 ↑

1.08 ↑

–

(p.R392S)

(p.R392S)

25

c.1157A > G^#

c.1000C > T

VUS/LP

23.8

27.2

1.09 ↑

0.07 ↑

1.38 ↑

①④

(p.Q386R)

(p.R344C)

26

c.4_5delCT#

C.617G > A

P/LP

20.7

30

2.29 ↑

0.11 ↑

1.89 ↑

–

(p.L2Vfs*39)

(p.R206Q)

27

c.989G > A^#

c.381-14G > A^#

LP/VUS

27.9

6.957

1.59 ↑

0.08 ↑

1.31 ↑

③④

(p.R330Q)

28

c.1000C > T

c.617G > A

LP/ LP

27.2

30

2.57 ↑

0.14 ↑

1.82 ↑

④

(p.R344C)

(p.R206Q)

29

c.286G > A

c.286G > A

LP/ LP

30

30

1.64 ↑

0.06 ↑

1.39 ↑

④

(p.G96S)

(p.G96S)

30

c.286G > A

c.286G > A

LP/ LP

30

30

2.09 ↑

0.14 ↑

1.53 ↑

–

(p.G96S)

(p.G96S)

31

c.236G > A^#

c.286G > A

LP/LP

27.2

30

0.99 ↑

0.13 ↑

1.15 ↑

④

(P.R79Q)

(p.G96S)

32

c.413delA^#

c.286G > A

P/ LP

23.4

30

1.83 ↑

0.29 ↑

3.33 ↑

④

(p.N138Mfs*36)

(p.G96S)

33*

c.286G > A

c.1000C > T

LP/ LP

30

27.2

1.97 ↑

0.09 ↑

1.99 ↑

①②④

(p.G96S)

(p.R344C)

34

c.286G > A

c.1150G > C^#

LP/VUS

30

21.3

1.04 ↑

0.11 ↑

1.24 ↑

④

(p.G96S)

(p.V384L)

35

c.473A > G^#

c.413delA^#

VUS/P

31

23.4

1.82 ↑

0.19 ↑

2.28 ↑

③④

(p.Y158C)

(p.N138Mfs*36)

36

c.1000C > T

c.1092 + 1G > A

LP/P

27.2

33

1.9 ↑

0.1 ↑

1.2 ↑

④

(p.R344C)

37

c.286G > A

c.500delG^#

LP/P

30

25.3

1.61 ↑

0.08 ↑

1.46 ↑

–

(p.G96S)

(p.S167Mfs*7)

38

c.286G > A

c.500delG^#

LP/P

30

25.3

1.43 ↑

0.08 ↑

0.48 ↑

③④

(p.G96S)

(p.S167Mfs*7)

39

c.286G > A

c.286G > A

LP/LP

30

30

2.42 ↑

0.07 ↑

0.9 ↑

④

(p.G96S)

(p.G96S)

40

c.286G > A

c.1165C > T^#

LP/LP

30

26.5

2.71 ↑

0.13 ↑

1.12 ↑

④

(p.G96S)

(p.R389W)