Table 2 Mutations involved in the lethal outcome

COL1A1

1

c.64 G > C

p.(Gly22Arg)

8

c.608 G > A

p.(Gly203Asp)

20

c.1353 + 1 G > A

/

21

c.1462-2 A > G

/

22

c.1471 G > A

p.(Gly491Ser)

23

c.1562 G > A

p.(Gly521Glu)

25

c.1678G > A

p.(Gly560Ser)

25

c.1714G > C

p.(Gly572Arg)

26

c.1821 + 4_1821 + 7del

/

33_34

c.2299 G > A

p.(Gly767Ser)

37

c.2515 G > C

p.(Gly839Arg)

42

c.3038 G > A

p.(Gly1013Glu)

43

c.3065 G > T

p.(Gly1022Val)

45

c.3235 G > C

p.(Gly1079Arg)

46

c.3263 G > C

p.(Gly1088Ala)

COL1A2

19

c.1027 G > A

p.(Gly343Arg)

25

c.1460 G > A

p.(Gly487Gu)

26

c.1541 G > T

p.(Gly514Val)

29

c.1685G > A

p.(Gly562Asp)

30

c.1730G > A

p.(Gly577Asp)

31

c.1774G > A

p.(Gly592Ser)

38

c.2333 G > A

p.(Gly778Asp)

41

c.2621 G > A

p.(Gly874Asp)