Table 4 List of identified pathogenic variants

1

YES

EXT2

c.124del

p.Met42Cysfs*17

2

YES

EXT1

c.1018C>T

p.Arg340Cys

3

YES

EXT1

c.652_665del

p.Lys218Tyrfs*2

4

YES

EXT2

c.940-1G>A

5

YES

EXT1

c.1633insTTTCC

p.Met546Serfs*3

6

YES

EXT1

c.808A>T

p.Arg270Trp

7

YES

EXT1

c.1469del

p.Leu490Argfs*9

8

YES

EXT2

c.1173+1G>A

9

YES

EXT1

c.2053C>T

p.Gln685*

10

YES

EXT1

c.19dup

p.Tyr7Leufs*23

11

YES

EXT1

c.1225C>T

p.Gln409*

12

YES

EXT1

exon4-11deletion

13

YES

EXT2

c.514C>T

p.Gln172*

14

YES

EXT1

c.934del

p.Cys312Valfs*47

15

YES

EXT1

c.1054C>T

p.Gln352*

16

YES

EXT1

c.2075G>A

p.Trp692*

17

YES

EXT1

c.357_358insTA

p.Pro120Tyrfs*17

18

YES

EXT2

c.564_566del

p.Leu188del

19

YES

EXT1

c.1705del

p.Val569Cysfs*52

20

YES

EXT1

c.348_349insCT

p.Tyr117Leufs*20

21

YES

EXT1

c.1162C>T

p.Gln388*

22

YES

EXT1

c.1162C>T

p.Gln388*

23

YES

EXT1

c.1057-3C>G

24

YES

EXT1

c.786C>G

p.Tyr262*

25

YES

EXT1

c.45_46del

p.Cys16Serfs*13

26

YES

EXT1

c.2038G>T

p.Glu680*

27

NO

28

YES

EXT1

c.1019G>A

p.Arg340His

29

YES

EXT1

c.218del

p.Asn73Thrfs*63

30

YES

EXT1

c.742_743del

p.Arg248Glyfs*40

31

NO

32

YES

EXT1

c.364C>T

p.Gln122*

33

YES

EXT1

c.364C>T

p.Gln122*

34

YES

EXT1

c.1469del

p.Leu490Argfs*9

35

YES

EXT2

c.67C>T

p.Arg23*

36

YES

EXT1

c.1342dup

p.His448Profs*24

37

NO

38

YES

EXT1

c.1948delGCCAATTG

Ala650*

39

YES

EXT2

c.87T>G

p.Met87Arg

40

YES

EXT2

c.544C>T

p.Arg182*

41

YES

EXT2

exon4deletion

42

YES

EXT2

c.314delA

p.Lys105Argfs*7

43

YES

EXT2

c.772C>T

p.Gln258*

44

YES

EXT1

c.906dup

p.Asp303Argfs*11

45

YES

EXT2

exon5-7deletion

46

YES

EXT2

c.834delG

p.Glu278Aspfs*4

47

YES

EXT2

c.317_318ins

p.Tyr107Valfs*11

48

YES

EXT2

exon1-7deletion

49

YES

EXT2

c.905del

p.Lys302Serfs*30

50

YES

EXT1

c.1468dup

Leu490Trpfs*9