Table 1 New variants detected by next-generation sequencing

1

Female

16

TSC1

c. 605_606insA

Phe202Leufs*16

Frameshift mutations

2

Female

57

TSC1

c.1018G > T

Glu340*

Nonsense mutations

3

Female

24

TSC1

c.361A > T

Lys121*

Nonsense mutations

4

Female

36

TSC2

c.3683_3684 insG

Leu1228Leufs*6

Frameshift mutations

5

Female

36

TSC2

c.788_789 insC

Leu263Leufs*75

Frameshift mutations

6

Male

30

TSC2

c.2738_2739 insT

Thr913Thrfs*2

Frameshift mutations

7

Male

31

TSC2

c.4006_4007 insC

Ser1336Serfs*78

Frameshift mutations

8

Female

30

TSC2

c.3601_3602 insGGCCC

Thr1203Glyfs*9

Frameshift mutations

9

Female

46

TSC2

c.203_204 insA

Ala68Alafs*7

Frameshift mutations

10

Male

16

TSC2

c.3271insTCCG

Gly1091Valfs*78

Frameshift mutations

11

Female

29

TSC2

c.1258G > T

Glu420*

Nonsense mutations

12

Female

50

TSC2

c.4972A > T

Lys1658*

Nonsense mutations

13

Female

24

TSC2

c.3838G > T

Gln1280*

Nonsense mutations

14

Female

23

TSC2

c.2319 delA

Leu773Leufs*56

Frameshift mutations