Table 1 Molecular data of FBN2-positive patients

21

c.2773G>A

p.(Gly925Arg)

1

24

c.3170G>A

p.(Gly1057Asp)

1

25

c.3227A>G

p.(Glu1076Gly)

1

25

c.3271A>C

p.(Asn1091His)

1

25

c.3272A>G

p.(Asn1091Ser)

1

25

c.3287T>C

p.(Phe1096Ser)

1

25

c.3337T>A

p.(Cys1113Ser)

1

25

c.3338G>A

p.(Cys1113Tyr)

1

25

c.3343G>C

p.(Asp1115His)

1

26

c.3344A>C

p.(Asp1115Ala)

1

26

c.3364T>C

p.(Ser1122Pro)

1

26

c.3398A>G

p.(Asn1133Ser)

1

26

c.3424T>C

p.(Cys1142Arg)

2

26

c.3426C>G

p.(Cys1142Trp)

1

26

c.3437A>G

p.(Tyr1146Cys)

2

26

c.3467G>T

p.(Cys1156Phe)

1

27

c.3481G>A

p.(Glu1161Lys)

2

27

c.3484T>C

p.(Cys1162Arg)

2

27

c.3593G>T

p.(Cys1198Phe)

1

28

c.3719G>A

p.(Cys1240Tyr)

1

28

c.3719G>T

p.(Cys1240Phe)

1

28

c.3719_3720delinsTC

p.(Cys1240Phe)

1

Intron 28

c.3724+1G>A

p.?

1

29

c.3736T>G

p.(Cys1246Gly)

1

29

c.3737G>T

p.(Cys1246Phe)

1

29

c.3790T>G

p.(Tyr1264Asp)

1

30

c.3923G>C

p.(Cys1308Ser)

1

31

c.4099G>C

p.(Asp1367His)

1

32

c.4150T>C

p.(Cys1384Arg)

2

32

c.4151G>T

p.(Cys1384Phe)

2

32

c.4151G>A

p.(Cys1384Tyr)

1

32

c.4222G>A

p.(Asp1408Asn)

1

33

c.4273T>C

p.(Cys1425Arg)

2

33

c.4301G>C

p.(Cys1434Ser)

1

38–48

c.(4879+1_4880-1)_(6166+1_6167-1)del

p.?

1

43–48

c.(5422+1_5423-1)_(6166+1_6167-1)del

p.?

1

45–48

c.(5674+1_5675-1)_(6166+1_6167-1)del

p.?

1