Table 3.
Gene | Transcript | Exon | Nucleotide change | Alteration | Mutant allele frequency/copy number |
---|---|---|---|---|---|
ARID1A | NM_006015 | 19 | c.5014del | p.V1672* | 2.3% |
CDKN2A | NM_000077 | 1 | c.130del | p.Y44Tfs*9 | 1.3% |
ERBB2 | NM_004448 | 20 | c.2313_2324dup | p.Y772_A775dup | 31.1% |
PTPN13 | NM_080683 | 34 | c.5564G>T | p.R1855L | 12.7% |
ROBO1 | NM_002941 | 14 | c.1942del | p.I648Yfs*5 | 23.4% |
SDHA | Gene amplification | 2.6 |
* a premature stop codon due to frameshift mutation or deletion mutation.