Table 1.
Variant profiles based on AmpliSeq™ Cancer Hotspot Panel
| Locus | Ref. | Observed allele | Genes | Variant ID | % Frequency | Exon | Coding | Amino acid change | Variant effect |
|---|---|---|---|---|---|---|---|---|---|
| chr4:1807894 | G | A | FGFR3 | 100 | 14 | c.1959G>A | p.(=) | Synonymous | |
| chr4:55141050 | AGCCCA | AGCCCG | PDGFRA | COSM12417 | 100 | 12 | c.1701A>G | p.(=) | Synonymous |
| chr4:55972974 | T | A | KDR | 100 | 11 | c.1416A>T | p.Gln472His | Missense | |
| chr5:112175769 | CGG | CAG | APC | COSM19714 | 100 | 16 | c.4479G>A | p.(=) | Synonymous |
| chr10:43613843 | G | T | RET | 100 | 13 | c.2307G>T | p.(=) | Synonymous | |
| chr17:7578190 | T | C | TP53 | COSM10758 | 100 | 6 | c.659A>G | p.Tyr220Cys | Missense |
| chr17:7579472 | G | C | TP53 | COSM45985 | 100 | 4 | c.215C>G | p.Pro72Arg | Missense |