Custom NGS and digital PCR results of the <i>GNAQ</i> somatic variant, <i>p</i>.<i>Arg183Gln</i>, <i>c</i>.<i>548G>A</i>.

Abbreviations: R, right; L, left; dPCR, digital PCR; Ctrl, unaffected contralateral tissue 1the percentage for the number of variant containing reads over total reads 2mean% ± SD 3GNAQ mutation interpretation. For each participant, one intra-lesion biopsy was performed on PWS skin; a second biopsy was performed on apparently normal skin of the contralateral, corresponding body region. * dPCR detection limit is 1%. However, we interpreted this case as positive by combining NGS data and dPCR value (close to 1%). Custom NGS and digital PCR results of the GNAQ somatic variant, p.Arg183Gln, c.548G>A.