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Table 1. NGS DNA panel results.

Results with frequency < 5 and/or coverage < 50 were excluded):
Gene Variant Amino acid change Coverage Allele frequency Interpretation
BRAF NM_0004333.4: c.1799T>A NP_004324.2: p.Val600Glu 4298 49.12 % relevant
NF1 NM_001042492.2:c.480G>T NP_001035957.1: p.Arg160Ser 125 5.6 % unclear relevance
ATRX NM_000489.4: c.4345A>G NP_000480.3: p.Lys1449Glu 151 5.3 % unclear relevance
Regions covered by QIASeq Targeted DNA Panel CDHS-21330Z-424:
Coding regions with splice sites
ATRX EGFR NF1 NF2 PTEN TP53
Hotspot mutations
AKT BRAF CTNNB1 FGFR1 FGFR2 H3F3A HIST1H3B
HIST1H3C IDH1 IDH2 KRAS PIK3CA PIK3R1 TERT (Promoter)