Table 1.
Consensus Pathogenic Variant (CPV) list of the ComPerMed genes selected for screening in solid tumours.
| Gene | Transcript ID | Hs1 | Hs2 | Hs3 | Hs4 | Hs5 | Hs6 | Hs7 | Hs8 | Hs9 | Hs10 | Hs11 | Hs12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALK | NM_004304.4 | F1174L | R1275Q | ||||||||||
| BRAF | NM_004333.5 | G469A/E/R/V | D594G/M | T599-K601 if-del/ins | V600E/K/M/R | K601E | |||||||
| BRCA1 | NM_007294.3 | all clear LoF variants (nonsense, frameshift, splice site) | |||||||||||
| BRCA2 | NM_000059.3 | all clear LoF variants (nonsense, frameshift, splice site) | |||||||||||
| EGFR | NM_005228.4 | G719A/C/S | ex19if-del/ins | ex20 if-ins | T790M | C797S | L858R | L861Q | |||||
| ESR1 | NM_000125.3 | K303R | E380Q | V392I | S463P | V533M | V534E | P535H | L536H/P/Q/R | Y537C/N/S | D538G | ||
| GNAS | NM_000516.5 | R201C/H | |||||||||||
| H3F3A | NM_002107.4 | K28M | G35R/W | ||||||||||
| HRAS | NM_005343.3 | G12C/D/S/V | G13C/D/R/S/V | Q61H/K/L/R | |||||||||
| IDH1 | NM_005896.3 | R132C/G/H/L/S | |||||||||||
| IDH2 | NM_002168.3 | R140L/Q/W | R172K/M/S | ||||||||||
| KIT | NM_000222.2 | ex8 | ex9 | ex11 | ex11 | ex11 | ex11 | ex11 | ex13 | ex13 | ex14 | ex17 | ex17 |
| D419 if-del | S501-F504 if-ins | K550-V560 if-indel | W557G/R | V559A/D | V560D | L576P | K642E | V654A | T670I | D816H/V/Y | N822K | ||
| KRAS | NM_004985.4 | G12A/C/D/F/R/S/V | G13C/D/R/S/V | A59T | Q61H/K/L/R | K117N | A146T | ||||||
| MET | NM_001127500.3 | ex14 skipping | |||||||||||
| NRAS | NM_002524.4 | G12A/C/D/R/S/V | G13C/D/R/S/V | A59T | Q61H/K/L/R | K117N | A146T | ||||||
| PDGFRA | NM_006206.5 | S566_E577 if-del | D842V | D842_I843 if-del | V561D | ||||||||
Hs: Hotspot; if-del: inframe deletion; if-ins: inframe insertion; _: denotes the exact positions of that change; -: denotes a region in which the change has to be located; LoF: Loss of Function.