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) |