Table 2 EXT1 and EXT2 mutations in patients

1

c.1567delC

Small deletion(frameshift)

2

c.1722 + 2 T > G, I8 + 2 T > G

Splice site

3

c.651-664delinsTTT

Frameshift

4

c.680delG

Small deletion(frameshift)

5

c.1016G > A

Missense

6

c.544C > T

Nonsense

7

c.1879_1881delCAC

Small deletion(codon)

8

c.1108G > T

Nonsense

9

c.335delA

Small deletion(frameshift)

10

EXT2 ALL EXON del

11

c.IVS4 + 1G > T

Splice site

12

c.1075A > T

Nonsense

13

c.942_943delAG

Small deletion(frameshift)

14

c.1784_1785delGC

Small deletion(frameshift)

15

c.IVS2 + 2_5delTAGG

Splice site

16

c.1469delT

Small deletion(frameshift)

17

c.67C > T

Nonsense

18

c.678C > A

Nonsense

19

c.ins247C

Small insert(frameshift)

20

c.1188G > A

Nonsense

21

c.924C > A

Nonsense

22

c.627-2_630delinsT

Splice site

23

c.1705delG

Small deletion(frameshift)

24

c.1551G > A

Nonsense

25

c.1019G > A

Missense

26

c.1930A > T

Missense

27

c.1165-1G > T

Splice site

28

c.1469delT

Small deletion(frameshift)

29

c.925_928dupCCAC

Small duplication(frameshift)

30

c.635delG

Small deletion(frameshift)

31

c.1883 + 1G > A(het)

Splice site

32

c.382C > T

Missense

33

EXT1 E4 del

34

c.1182delG

Small deletion(frameshift)

35

c.910C > T

Nonsense mutation

36

EXT1 E2-E11 del

37

c.247dupC

Small duplication(frameshift)

38

EXT1 E4 del

39

c.1930A > T

Missense

40

c.200C > A;

Missense

41

c.1181G > A

Nonsense

42

EXT1 ALL EXON del

43

EXT1 ALL EXON del

44

c.659G > A

Missense

45

c.354dupA

Small duplication(frameshift)

46

c.1911C > A

Nonsense