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. 2019 Mar 18;27(7):1090–1100. doi: 10.1038/s41431-019-0373-x

Table 2.

Mutations involved in the lethal outcome

Gene Exon DNA change Protein change
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)

The five mutations identified in the “lethal clusters” described by Marini et al. [8] are in bold