Table 1 Clinical significance SNVs identified in the patient’s tumor cells
From: Ex vivo modelling of drug efficacy in a rare metastatic urachal carcinoma
Gene | AA Change | Codon Change | Mutation freq. | ClinVar ID | ClinVar significance |
|---|---|---|---|---|---|
ABCB1 | p.S829A, pS893A | c.2677 T > G, c.2485 T > G | 31,8% | rs166622 | drug response |
DPYD | p.M166V | c.495A > G | 47,1% | rs100116 | drug response |
FGFR4 | p.G23R, p.G388R | c.67G > A, p.1162G > A | 100,0% | rs16326 | pathogenic |
KRAS | p.G12V | c.35G > T | 71,6% | rs12583 | pathogenic |
SLCO1B1 | p.V174A | c.521 T > C | 99,8% | rs37346 | drug response |
TAS2R38 | p.I296V | c.886A > G | 99,9% | rs2906 | drug response |
TAS2R38 | p.A49P | c.145G > C | 100,0% | rs2904 | drug response |
TP53 | p.P33R, p.P72R | c.98C > G, c.215C > G | 99,7% | rs12351 | drug response |
XPC | p.Q939K | c.2815C > A | 100,0% | rs190215 | drug response |