Table 2 Status of TSC2 mutations in Taiwanese patients with TSC

21

TSC2

1

c.109dupG

Frameshift

F

N

This study

30

TSC2

1

c.133_136delCTGA

Frameshift

S

R

DK*

35

TSC2

3

c.268C>T

p.Q90X

Nonsense

S

R

[25]

47

TSC2

6

c.632delC

Frameshift

S

N

This study

8

TSC2

intron 8

c.848+3delG

Splicing

S

N

This study

37

TSC2

9

c.856A>G

p.M286V

Missense

F

R

[10]

78

TSC2

10

c.1060C>T

p.Q354X

Nonsense

S

N

This study

75

TSC2

10

c.1117C>T

p.Q373X

Nonsense

S

R

DK*

48

TSC2

11

c.1226_1230delAACTG

Frameshift

S

N

This study

12

TSC2

12

c.1336C>T

p.Q446X

Nonsense

S

R

[25]

20

TSC2

14

c.1513C>T

p.R505X

Nonsense

S

R

[10]

57

TSC2

14

c.1513C>T

p.R505X

Nonsense

S

R

[10]

65

TSC2

intron 14

c.1599+2T>C

Splicing

S

N

This study

76

TSC2

16

c.1794C>G

p.Y598X

Nonsense

S

R

[10]

29

TSC2

16

c.1832G>A

R611Q

Missense

S

R

[10]

59

TSC2

intron 16

c.1840-2A>T

Spilicing

S

N

This study

82

TSC2

17

c.1939G>A

p.D647N

Missense

S

R

[26]

7

TSC2

18

c.2086T>C

p.C696R

Missense

S

R

[27]

53

TSC2

19

c.2103_2105dupTGA

In-frame insertion

S

N

This study

5

TSC2

19

c.2210T>C

p.L737P

Missense

S

N

This study

23

TSC2

20

c.2251C>T

p.R751X

Nonsense

S

R

[10]

70

TSC2

20

c.2251C>T

p.R751X

Nonsense

S

R

[10]

39

TSC2

21

c.2404dupA

Frameshift

F

N

This study

32

TSC2

21

c.2461A>T

p.K821X

Nonsense

S

N

This study

11

TSC2

21

c.2538delC

Frameshift

F

N

This study

67

TSC2

intron 21

c.2546-2A>T

Splicing

S

N

This study

73

TSC2

intron 22

c.2639+1G>C

Splicing

S

R

[9]

22

TSC2

23

c.2641delT

Frameshift

F

N

This study

27

TSC2

24

c.2824G>T

p.Q942X

Nonsense

S

N

This study

64

TSC2

26

c.2974C>T

p.Q992X

Nonsense

S

R

[28]

80

TSC2

26

c.3076dupT

Frameshift

S

N

This study

33

TSC2

28

c.3389delC

Frameshift

S

N

This study

19

TSC2

29

c.3412C>T

p.R1138X

Nonsense

S

R

[9]

42

TSC2

29

c.3421G>A

p.A1141T

Missense

F

N

This study

13

TSC2

30

c.3693_3696delGTCT

Frameshift

S

R

DK*

51

TSC2

30

c.3696dupT

Frameshift

S

N

This study

9

TSC2

33

c.4175_4176delAG

Frameshift

S

N

This study

26

TSC2

33

c.4440dupA

Frameshift

S

N

This study

77

TSC2

34

c.4541_4544delCAAA

Frameshift

S

R

[12]

18

TSC2

35

c.4603_4605delGAC

In-frame deletion

S

N

This study

34

TSC2

35

c.4603G>T

p.D1535Y

Missense

S

N

This study

83

TSC2

36

c.4830G>A

p.W1610X

Nonsense

S

R

DK*

28

TSC2

36

c.4846C>T

p.Q1616X

Nonsense

S

N

This study

16

TSC2

37

c.4909_4910delAA

Frameshift

S

N

This study

81

TSC2

38

c.5032dupT

Frameshift

S

N

This study

60

TSC2

39

c.5150T>C

p.L1717P

Missense

S

R

[29]

55

TSC2

intron 39

c.5160+3G>C

Splicing

S

N

This study

43

TSC2

intron 39

c.5160+4A>G

Splicing

S

R

[29]

4

TSC2

40

c.5227C>T

p.R1743W

Missense

S

R

DK *

50

TSC2

40

c.5227C>T

p.R1743W

Missense

S

R

DK*

56

TSC2

40

c.5228G>A

p.R1743Q

Missense

F

R

[30]

10

TSC2

40

c.5238_5255del18

Frameshift

S

R

[31]

25

TSC2

40

c.5238_5255del18

Frameshift

S

R

[31]

6

TSC2

40

c.5252_5259+19del27

Frameshift

S

R

[9]

15

TSC2

41

c.5378G>A

p.R1793Q

Missense

F

N

This study

Total: 55, F:8, S:47, N:28, R:27 MM:12, NM:15, FM:21, SM:7.