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. 2017 Feb 23;12(2):e0172173. doi: 10.1371/journal.pone.0172173

Fig 2. Identification of a novel SH2D1A pathogenic variant in the pregnant woman.

Fig 2

(A) Integrative Genomics Viewer (IGV) snapshot of the sequence data at SH2D1A for the pregnant (II-1) sample, and the corresponding calls made from the data. Each horizontal gray bar represents one read, the short line in the gray bar indicates bases deletion. (B) Sanger sequencing verified the NGS result. The arrows indicate the deletion of TTTCA in mutant allele which leads to frameshift and introduces a premature termination codon (p.Ile84Serfs*18).