Table 1 Overview of mutations found in the different genes of the H-TAD panel and their associated phenotype

FBN1

1

27

c.1879C > T [29]

p.(Arg627Cys)

S H-TAD

11

c.860A > G*

p.Glu287Gly

NS H-TAD

2

1

c.3601 T > C*

p.(Cys1201Arg)

S H-TAD

16

c.2819G > T*

p.Gly940Val

S H-TAD

3

3

c.4459 + 1G > C*

/

S H-TAD

56

c.3748G > T*

p.Asp1250Tyr

NS H-TAD

4

54

c.5377 T > A*

p.(Cys1793Ser)

S H-TAD

32

c.4347G > T*

p.Glu1449Asp

NS H-TAD

5

1

c.5558G > C*

p.(Cys1853Ser)

S H-TAD

47

c.7379A > G [30]

p.Lys2460Arg

NS H-TAD

6

23

c.6496 + 1 G > A*

/

S H-TAD

39

c.7412C > G*

p.Pro2471Arg

NS H-TAD

7

34

c.6952 T > C [29]

p.(Cys2318Arg)

NS H-TAD

8

52

c.7486 T > A*

p.(Cys2496Ser)

NS H-TAD

9

54

c.7486 T > A*

p.(Cys2496Ser)

NS H-TAD

10

40

c.7852G > A [31-33]

p.(Gly2618Arg)

TAD - SS a/o EL?

11

16

c.8536G > T*

p.(Glu2846X)

S H-TAD

12

8

c.8544dupA*

p.(Tyr2849IlefsX2)

S H-TAD

TGFBR1

13

23

c.683_685delAAG [34]

p.(Glu228del)

S H-TAD

TGFBR2

14

39

c.1084C > A*

p.(His362Asn)

S H-TAD

15

81

c.1379G > A [35]

p.(Arg460His)

NS DAD

TGFB2

16

27

c.577C > T*

p.(Arg193Trp)

S H-TAD

17

48

c.980G > A [9]

p.(Arg327Gln)

S H-TAD

18

3

c.988C > T [10]

p.(Arg330Cys)

S H-TAD

SMAD3

19

20

c.401-6G > A [36]

/

S H-TAD

20

53

c.546delT*

p.(Gly183AlafsX3)

S H-TAD

21

24

c.584_585insTC*

p.(Gln195HisfsX3)

S H-TAD

22

24

c.715G > A [37]

p.(Glu239Lys)

S H-TAD

23

53

c.715G > A [37]

p.(Glu239Lys)

S H-TAD

24

23

c.715G > A [37]

p.(Glu239Lys)

S H-TAD

25

14

c.859C > T [13]

p.(Arg287Trp)

S H-TAD

26

32

c.887 T > C*

p.(Leu296Pro)

S H-TAD

27

20

c.1155-2A > G*

/

S H-TAD

ACTA2

28

61

c.115C > T [19,38]

p.(Arg39Cys)

NS H-TAD

29

17

c.455C > T [18]

p.(Arg149Cys)

NS H-TAD

30

59

c.772C > T [25]

p.(Arg258Cys)

NS H-TAD

31

32

c.910G > A [38]

p.(Gly304Ser)

NS H-TAD

COL3A1

32

40

c.3410G > A [39]

p.(Gly1137Asp)

NS DAD

33

43

c.719G > T*

p.(Gly240Val)

NS H-TAD

34

35

c.811 C > T*

p.(Arg271X)

S-H-TAD