Table 1 Summary of identified pathogenic variants in the TRAPPC2 gene

1

Intron 2

c.-19-2A > C

Spice Site

–

Chinese

2003 [10]

2

Intron 2

c.-19-2A > G

Spice Site

–

French

2001 [11]

3

Intron 2 and Exon 3

deletion 1763 bp across I2E3 boundary

Deletion

–

Japanese

2001 [12]

4

Exon 3

c.6delT

Deletion

p.S4Afs*4

Brazilian

2018 [13]

5

Exon 3

c.40delG

Deletion

p.D14Ifs*23

Korean

2012 [14]

6

Exon 3

c.53_54delTT

Deletion

p.F18*

Australian

1999 [3]

7

Exon 3

c.61G > T

Nonsense

p.E21*

Chinese

2014 [15]

8

Exon 3

Exon3del

Deletion

–

Australian

2001 [11]

9

Intron 3

c.93 + 1G > A

Spice Site

–

Japanese

2014 [16]

10

Intron 3

c.93 + 5G > C

Spice Site

–

Chinese

2013 [17]

11

Intron 3

c.93 + 5G > A

Spice Site

–

Chinese

2015 [18]

12

Intron 3

94-2A > G

Spice Site

–

Japanese

2018 [19]

13

Exon 4–6

deletion Exon 4–6

Deletion

–

European

2004 [20]

14

Exon 4

c.100delC

Deletion

p.H34Ifs*3

European

2004 [20]

15

Exon 4

c.139G > T

Missense

p.D47Y

Danish

2001 [11]

16

Exon 4

c.157_158delAT

Deletion

p.M53Vfs*34

Australian

1999 [3]

17

Exon 4

c.167C > A

Nonsense

p.S56*

Germany

2003 [21]

18

Exon 4

c.182 T > A

Nonsense

p.L61*

Mexican

2001 [11]

19

Exon 4

c.183_184delGA

Deletion

p.K62Nfs*25

European

2004 [20]

20

Exon 4

c.191_192delTG

Deletion

p.V64Gfs*23

Australian

1999 [3]

21

Exon 4

c.209G > A

Nonsense

p.W70*

Chinese

2008 [22]

22

Exon 4

c.210G > A

Nonsense

p.W70*

European

2001 [23]

23

Exon 4

c.216_217del

Deletion

p.S73Gfs*15

Chinese

Present Study

24

Exon 4

c.218C > T

Missense

p.S73L

Norwegian

2001 [11]

25

Intron 4

c.238 + 1A > G

Spice Site

–

Chinese

2009 [24]

26

Intron 4

c.238 + 4 T > C

Spice Site

–

Italian

2003 [25]

27

Intron 4

c.239-11_239-9delAAT

Spice Site

–

Turkish

2014 [26]

28

Intron 4

c.239-11_239-4delAATTATTT

Spice Site

–

German

2001 [11]

29

Intron 4

c.239-10_239-7delATTA

Spice Site

–

North American

2001 [11]

30

Exon5

c.239A > G

Missense

p.H80R

Chinese

2008 [27]

31

Exon 5

c.241_242delAT

Deletion

p.M81Efs*6

French

2001 [11]

32

Exon 5

c.248 T > C

Missense

p.F83S

British

2001 [28]

33

Exon 5

c.262_266delGACAT

Deletion

p.D88Kfs*11

Canadian

2001 [11]

34

Exon 5

c.271C > T

Nonsense

p.Q91*

–

2000 [29]

35

Exon 5

c.271_275delCAAGA

Deletion

p.Q91Rfs*8

North American

2000 [30]

36

Exon 5

c.272_273delAA

Deletion

p.Q91Rfs*9

Finnish

2001 [11]

37

Exon 5

c.293delT

Deletion

p.F98Sfs*10

Chinese

2003 [31]

38

Exon 5

c.320dupT

Insertion

p.F109Vfs*7

Native Australian

2001 [11]

39

Intron 5

c.325-10_325-4delTCTTTCCinsAA

Spice Site

–

French

2001 [11]

40

Intron 5

c.325-2A > C

Spice Site

–

Australian

2001 [11]

41

Intron 5 and Exon 6

deletion 1330 bp across I5E6

Deletion

–

Australian

2001 [11]

42

Intron 5 and Exon 6

deletion 1335 bp across I5E6 boundary

Deletion

–

Belgian

2003 [25]

43

Intron 5 and Exon 6

deletion 1371–1445 bp across I5E6 boundary

Deletion

–

European

2001 [23]

44

Intron 5 and Exon 6

deletion 750 bp across I5E6 boundary

Deletion

–

European

2001 [23]

45

Intron 5 and Exon 6

c.325-2_335delAGTTTTCAATGAA

Deletion

p.F109Sfs*3

Chinese

2004 [32]

46

Exon 6

c.328delT

Deletion

p.S110Qfs*1

European

2004 [20]

47

Exon 6

c.329C > A

Nonsense

p.S110*

Chinese

2002 [33]

48

Exon 6

c.333_336delGAAT

Deletion

p.M111Ifs*29

Slovakian

2003 [25]

49

Exon 6

c.345_346delTG

Deletion

p.Y115*

European

2004 [20]

50

Exon 6

c.364C > T

Nonsense

p.R122*

European

2001 [23]

51

Exon 6

c.370dupA

Insertion

p.S124Kfs*3

Chinese

2009 [34]

52

Exon 6

c.387delA

Deletion

p.V130Ffs*9

Jewish Ashkenazi

2004 [35]

53

Exon 6

c.389 T > A

Missense

p.V130D

Japanese

2001 [11]

54

Exon 6

c.391C > T

Nonsense

p.Q131*

Japanese

2002 [36]