Table 2 Variants identified in Classic and Rhabdomyosarcomatous (Rhabdo) GIST components
Gene | Nucleotide Change | Amino Acid Change | Consequence | VAF Classic GIST | VAF Rhabdo GIST |
|---|---|---|---|---|---|
KIT | NM_000222.2:c.1670_1675delGGAAGG (6 nt) | Trp557_Val559delinsPhe | Inframe deletion | 91.1 | 50.7 |
TP53 | NM_000546.5:c.215C > G | Pro72Arg | missense | 43 | 54.7 |
PDGFRA | NM_006206.4:c.2472C > T | none | synonymous | 4.6 (ND) | 25.4 |
KIT | NM_000222.2:c.2586G > C | none | synonymous | 4.2 (ND) | 26.0 |
PDGFRA | NM_006206.4:c.1701A > G | none | synonymous | 99.8 | 99.8 |
APC | NM_000038.5:c.4479G > A | none | synonymous | 51.2 | 49.9 |
EGFR | NM_005228.3:c.2361G > A | none | synonymous | 93.8 | 70.8 |
MET | NM_001127500.1:c.1131C > T | none | synonymous | 99.6 | 99.5 |