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. Author manuscript; available in PMC: 2018 Aug 1.
Published in final edited form as: Angiogenesis. 2017 Jan 24;20(3):303–306. doi: 10.1007/s10456-016-9538-1

Figure 1.

Figure 1

GNA11 mutation in Participant 5. (a) Photograph depicting the patient’s capillary malformation and hypertrophy of her left lower extremity. (b) Results from a ddPCR reaction displaying the presence of the GNA11 c.547C>T (p.ArgR183Cys) mutation with a mutant allele frequency of ~5%. (c) Sanger sequencing of PCR-amplimer-subclones showing (Top) a clone with the wild-type sequence and (Bottom) another with the mutation at position 547 having a T (red arrow) instead of a C (black arrow). (d) Integrative Genomic Viewer screen-shot depicting MIP-seq coverage at the site of the mutation (c.547C>T) with ~5% mutant allele frequency. 96x indicates the depth of coverage at position 547.