Skip to main content
. Author manuscript; available in PMC: 2017 Dec 1.
Published in final edited form as: Am J Hematol. 2016 Oct 21;91(12):1227–1233. doi: 10.1002/ajh.24552

Table III. Somatic mutations in patients with dyskeratosis congenita.

Patient ID Sex Age Gene Change Position (DNA, Protein) WES Allele Frequency (%) Clone size (%)
WUSTL-320.01 M 53 TTN c.10030C>T, p. Pro3298Ser 33 66
CHOP-9.01 M 16 LPHN1 c.1189G>A, p. Gly397Arg 16 32
CHOP-398.01 M 21 DKC1 c.-35A>G 14 14

M, male; WES Allele Frequency, percent of WES reads containing the mutation; Clone size, WES Allele Frequency corrected for autosomal or X-linked status.