Table 2.
Gene | Mutation | Type |
---|---|---|
BRAF | G464R | clinically-relevant activating (rare in melanoma) |
BRAF | G469R | clinically-relevant activating (1% of melanomas) |
KRAS | G12C | clinically-relevant activating |
FGFR3 | G380R | clinically-relevant activating (94% of achondroplasia) |
KIT | E562D | functionally validated activating (exon 11 mutation in 60% of GISTs) |
HRAS | G13D | functionally validated activating |
EGFR | S720F | functionally validated activating (5% of NSCLCs) |
ERBB4 | E563K | functionally validated activating |
EZH2 | Y641S | functionally validated activating (22% of FLs) |
MTOR | S2215F | functionally validated activating |
PIK3CA | P471L | likely activating (same mutation in (15)) |
HGF | E199K | likely activating (same mutation in (15)) |
CARD11 | E24K | likely activating (gain of function mutations in CARD domains in vitro) |
CARD11 | D199N | likely activating (gain of function mutations in CARD domains in vitro) |