Table 2.
Consensus Pathogenic Variant (CPV) list of the ComPerMed genes selected for screening in myeloid tumours.
| Gene | Transcript ID | Hs1 | Hs2 | Hs3 | Hs4 | Hs5 | Hs6 |
|---|---|---|---|---|---|---|---|
| ASXL1 | NM_015338.5 | none | |||||
| CALR | NM_004343.3 | ex9of-del | ex9of-ins | ||||
| CEBPA | NM_004364.3 | none | |||||
| CSF3R | NM_156039.3 | T618I | |||||
| DNMT3A | NM_ 175629.2 | R882C/H | |||||
| EZH2 | NM_004456.4 | Y646F/H/N/S | |||||
| FLT3 | NM_004119.2 | ex14if-dup | D835A/E/H/V/Y | ||||
| IDH1 | NM_005896.3 | R132C/G/H/L/S | |||||
| IDH2 | NM_002168.3 | R140L/Q/W | R172K/M/S | ||||
| JAK2 | NM_004972.3 | ex12 if-del/if-dup | V617F | ||||
| KIT | NM_000222.2 | see CPV Solid list | |||||
| MPL | NM_005373.2 | S505N | W515any ms | ||||
| NPM1 | NM_002520.6 | ex11of-ins | |||||
| RUNX1 | NM_001754.4 | none | |||||
| SETBP1 | NM_015559.3 | D868N | G870S | ||||
| SF3B1 | NM_012433.3 | E622D | R625C/H | H662Q | K666N/R/T | K700E | G742D |
| SRSF2 | NM_003016.4 | P95H/L/R | P95_R102del | ||||
| TET2 | NM_001127208.2 | none | |||||
| TP53 | NM_000546.5 | R175H | Y220C | G245S | R248Q/W | R273C/H | R282W |
| U2AF1 | NM_006758.2 | S34F/Y | Q157P/R | ||||
| WT1 | NM_024426.5 | none |
Hs: Hotspot; if-del: inframe deletion; if-dup: inframe duplication; of-del: out of frame deletion; of-ins: out of frame insertion; any ms: any missense variant; none: no consensus pathogenic variants present.