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. 2022 Apr;8(3):a006151. doi: 10.1101/mcs.a006151

Table 1.

PGDx elio tissue and plasma complete results

Gene Source Alteration Mutation MAF (%) Role
CARD11 Tissue T1022A Missense 56.3 CARD-CC protein family costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation
TLR4 Tissue N176Ffs*27 Frameshift 38.8 Pathogen recognition and activation of innate immunity
CDKN1A Tissue W49S Missense 5.9 Encodes cyclin-dependent kinase inhibitor
CDKN1A Tissue D52H Missense 5.4 Cell cycle pathway
FAT1 Tissue Y2774* Nonsense 14.4 Tumor suppressor; cell proliferation
GLI1 Tissue F1101L Missense 51.0 Oncogene; Hedgehog signaling
HRAS Tissue G13P Missense 17.5 Proto-oncogene
KDM6A Tissue K1018Efs*6 Frameshift 13.0 Histone demethylase: chromatin-modifying or chromatin-regulatory genes
KEAP1 Tissue R272C Missense 7.5 Tumor/metastasis suppressor; oxidative stress pathway
NCOR1 Tissue H1401R Missense 11.9 Histones/nuclear receptors
PTPRD Tissue N1701S Missense 53.7 Unclear role
SLX4 Tissue G1535E Missense 48.3 DNA repair, DSBR HR
TERT Tissue n/a Promoter 6.7 Telomerase complex
HRAS Plasma G13P Missense 1.14 Proto-oncogene
HRAS Plasma n/a Splice site Acceptor 0.54 Proto-oncogene

(MAF) Minor allele frequency, (DSBR) double-strand break repair, (HR) homologous recombination.