Table 3 Novel mutations

1

Missense

E24

c.3226C > G

p.Pro1076Ala

2

Frameshift

E3

c.96delT

p.Phe32Leufs*19

3

Frameshift

E4

c.193_194delGA

p.Glu65fs*23

4

Frameshift

E6

c.360_361insC

p.Lys121fs*

5

Frameshift

E11

c.1152delG

p.Gly384fs*3

6

Frameshift

E11

c.1198_1199insA

p.Leu400Hisfs*6

7

Frameshift

E11

c.1206_1207delGGinsAT

p.Gly403*

8

Frameshift

E11

c.1327_1328insA

p.Ser443Lysfs5*

9

Frameshift

E20

c.2496delinsTT

p.Ile833Tryfs*3

10

Frameshift

E23

c.3075_3075delT

p.Ile1025Metfs*19

11

Frameshift

E26

c.3569delC

p.Pro1190Glnfs11*

12

Frameshift

E27

c.3728_3729insT

p.Leu1243Leufs*11

13

Frameshift

E29

c.3988delC

p.Leu1330fs*10

14

Frameshift

E33

c.4583delA

p.Gln1528fs*18

15

Frameshift

E36

c.5100_5101delAC

p.Leu1701Phefs*2

16

Frameshift

E43

c.6128_6131delATAG

p.Asp2043fs*29

17

Frameshift

E45

c.6472_6473delGT

p.Val2158fs*

18

Frameshift

E47

c.6791delA

p.Gln2264Argfs*7

19

Frameshift

E51

c.7431_7434delGGCTinsCA

p.Arg2477fs*13

20

Frameshift

E55

c.8215_8216insT

p.Gln2739Serfs*6

21

Frameshift

E59

c.8681_8682delA

p.Glu2895fs*14

22

Frameshift

E64

c.9358delT

p.Cys3120fs*

23

Frameshift

E21

c.2673_2674delAA

p.Lys891fs*9

24

Nonsense

E7

c.620C > T

p.Leu207*

25

Nonsense

E12

c.1375G > T

p.Glu459*

26

Nonsense

E12

c.1396A > T

p.Lys466*

27

Nonsense

E13

c.1510C > T

p.Gln504*

28

Nonsense

E15

c.1729G > T

p.Gln577*

29

Nonsense

E20

c.2556G > A

p.Trp852*

30

Nonsense

E23

c.3106G > T

p.Gln1036*

31

Nonsense

E24

c.3172C > T

p.Gln1058*

32

Nonsense

E25

c.3346A > T

p.Lys1116*

33

Nonsense

E27

c.3655G > T

P.Gln1219*

34

Nonsense

E29

c.3923C > A

p.Ser1308*

35

Nonsense

E33

c.4656 T > A

p.Tyr1552*

36

Nonsense

E34

c.4729C > T

p.Arg1577*

37

Nonsense

E42

c.6025C > T

p.Gln2009*

38

Nonsense

E45

c.6550A > T

p.Lys2184*

39

Nonsense

E46

c.6739A > T

p.Lys224*

40

Nonsense

E48

c.7029G > A

p.Trp2343*

41

Nonsense

E51

c.7455G > A

p.Trp2485*

42

Nonsense

E55

c.8197G > T

p.Glu2733*

43

Nonsense

E63

c.9277C > T

p.Gln3093*

44

Splice sites

E3

c.186 + 2 T > G

–

45

Splice sites

E11

c.1150-2A > G

–

46

Splice sites

E20

c.2622 + 1_2622 + 5delGTAAG

–

47

Splice sites

E28

c.3921 + 12A > G

–

48

Splice sites

E41

c.5922 + 4A > T

–

49

Splice sites

E43

c.6290 + 5G > T

–

50

Splice sites

E55

c.8027-2A > G

–

51

Splice sites

E55

c.8217 + 2 T > C

–

52

Splice sites

E62

c.9164-2A > G

–

53

Splice sites

E65

c.9362-2A > C

–