Fig. 2
From: A somatic activating NRAS variant associated with kaposiform lymphangiomatosis
Exome sequencing and digital polymerase chain reaction (dPCR) of NRAS c.182A>G, p.Q61R allele in participant KLA4. (a) Integrative Genomics Viewer (IGV) screenshot of sequencing reads from lesional tissue exome of participant KLA4 supporting the variant allele. Variant is on 26/188 reads (14%). (b) dPCR results from lesional tissue of participant KLA4, demonstrating amplification of variant allele (14%). (c) dPCR results from an unrelated unaffected control, demonstrating no amplification of variant allele.
