Table 2.
Genes and regions tested in the glioma panel.
| Chromosome | Gene | RefSeq No. | Hotspot (Aminoacid Position)/Coding Sequence (% Sequence Covered) |
|---|---|---|---|
| chr1 | H3F3A | NM_002107 | Hotspot (K28, G35) |
| chr2 | ACVR1 | NM_001105 | Hotspot (R206, Q207, A233, R258, G328, G356) |
| chr2 | IDH1 | NM_005896 | Hotspot (R132) |
| chr4 | PDGFRA | NM_006206 | Frequently mutated exons (5-12, 14-15, 18, 21-23) |
| chr5 | TERT | NM_001193376 | Hotspot (promoter region, C228T, C250T) |
| chr6 | HIST1H3B | NM_003537 | Hotspot (K28) |
| chr6 | HIST1H3C | NM_003531 | Hotspot (K28) |
| chr7 | EGFR | NM_005228 | Whole coding region (100.0%) |
| chr7 | BRAF | NM_004333 | Hotspot (V600) |
| chr9 | CDKN2A | NM_000077 | Whole coding region (85.4%) |
| chr10 | PTEN | NM_000314 | Whole coding region (99.3%) |
| chr15 | IDH2 | NM_001289910 | Hotspot (R172) |
| chr17 | TP53 | NM_000546 | Whole coding region (99.9%) |
| chrX | ATRX | NM_000489 | Whole coding region (100.0%) |
| Chromosome | Gene | Copy Number Variation | |
| chr1 | 30 SNPs | 1p/19q Codeletion | |
| chr19 | 25 SNPs | ||
| chr7 | EGFR | Amplification | |