Table 2 SEC23B mutations in 16 Italian patients

F1

c.953 T > C

c.1910 T > G

p.Ile318Thr

p.Val637Gly

55

G2

c.40 C > T

c.1015 C > T

p.Arg14Trp

p.Arg339X

42

B3

c.325 G > A

c.325 G > A

p.Glu109Lys

p.Glu109Lys

60

A4

IVS1 +31 A > G

c.367 C > T

Donor site ins

p.Arg123X

36

C5

c.40 C > T

c.1857-1859delCAT

p.Arg14Trp

p.I619del

54

C6

c.40 C > T

c.2101 C > T

p.Arg14Trp

p.Arg701Cys

62

P7

c.40 C > T

c.1015 C > T

p.Arg14Trp

p.Arg339X

42

C9

c.40 C > T

-

p.Arg14Trp

-

58

D10

c.325 G > A

c.325 G > A

p.Glu109Lys

p.Glu109Lys

60

B11

c.1453 A > G

c.1589 G > A

p.Thr485Ala

p.Arg530Gln

55

P13

c.40 C > T

c.640 C > T

p.Arg14Trp

p.Gln214X

50

G14

c.325 G > A

c.325 G > A

p.Glu109Lys

p.Glu109Lys

61

M15

c.40 C > T

c.2180 C > T

p.Arg14Trp

p.Ser727Phe

55

F16

c.325 G > A

c716 A > G

p.Glu109Lys

p.Asp239Gly

61

P17

c.40 C > T

-

p.Arg14Trp

-

64

E18

c.1254 T > G

c.1254 T > G

p.Ile418Met

p.Ile418Met

53