Table 2.
Gene | cDNA | Amino Acid |
---|---|---|
APC | c.1585C>T | p.L529F |
ARID1A | c.5202T>G | p.Y1734* |
ATR | c.4430C>G | p.P1477R |
BCOR | c.2360C>T | p.P787L |
BRD4 | c.886A>C | p.T296P |
CHEK1 | c.1235T>C | p.V412A |
CHEK2 | c.680G>A | p.G227E |
CIC | c.89G>A | p.R30H |
CTNNB1 | c.1004A>T | p.K335I |
CTNNB1 | c.122C>T | p.T41I |
DIS3 | c.2417A>G | p.D806G |
EIF4A2 | c.881A>G | p.H294R |
EPHA5 | c.2382G>C | p.M794I |
ERBB3 | c.621_622delinsCC | p.K207_T208delinsNP |
FAT1 | c.12791C>T | p.S4264L |
GRIN2A | c.3211C>A | p.H1071N |
HGF | c.1504C>G | p.R502G |
INPP4B | c.7delA | p.I3fs |
KMT2C | c.8539G>A | p.D2847N |
KRAS | c.356A>G | p.D119G |
MED12 | c.6118G>T | p.A2040S |
MPL | c.1586G>A | p.W529* |
NCOR1 | c.4556delC | p.S1519* |
NKX3-1 | c.225G>C | p.Q75H |
NOTCH1 | c.3340C>T | p.R1114C |
NOTCH3 | c.6743C>T | p.S2248F |
NSD1 | c.6531G>A | p.M2177I |
KTRK2 | c.1784A>G | p.D595G |
PAK7 | c.996T>A | p.D332E |
RASA1 | c.143C>A | p.P48H |
ROS1 | c.377G>A | p.G126E |
SF3B1 | c.1447G>T | p.D483Y |
SF3B1 | c.674G>T | p.G225V |
SYK | c.1850C>A | p.P617H |
TERT | g.1295228C>T | |
TET1 | c.5973T>A | p.D1991E |
WT1 | c.811C>A | p.H271N |
YAP1 | c.370C>G | p.R124G |
ZFHX3 | c.3195G>C | p.E1065D |
Abbreviation: cDNA, complementary DNA.
Means Substitution - Nonsense.