Table 4.
Single-Nucleotide Polymorphisms With a 5% or More Minor Allele Frequency Within the Reportable Ranges of the AmpliSeq Cancer Hotspot Panel
| Gene | rs Number | cDNA Change | a.a. Change | Ref. Number | MAF, %a |
|---|---|---|---|---|---|
| APC | rs41115 | c.4479G>A | p.T1493= | NM_000038 | 33 |
| EGFR | rs1050171 | c.2361G>A | p.Q787= | NM_005228 | 43 |
| ERBB4 | rs839541 | c.421 + 58A>G | NA | NM_005235 | 36 |
| FLT3 | rs2491231 | c.1310-3T>C | NA | NM_004119 | 44 |
| HRAS | rs12628 | c.81T>C | p.H27= | NM_005343 | 30 |
| IDH1 | rs11554137 | c.315C>T | p.G105= | NM_005896 | 6 |
| KDR | rs1870377 | c.1416A>T | p.Q472H | NM_002253 | 21 |
| KDR | rs7692791 | c.798 + 54G>A | NA | NM_002253 | 46 |
| KIT | rs3822214 | c.1621A>C | p.M541L | NM_000222 | 7 |
| MET | rs35775721 | c.534C>T | p.S178= | NM_000245 | 9 |
| PDGFRA | rs2228230 | c.2472C>T | p.V824= | NM_006206 | 24 |
| PIK3CA | rs3729674 | c.352 + 40A>G | NA | NM_006218 | 27 |
| PIK3CA | rs2230461 | c.1173A>G | p.I391M | NM_006218 | 9 |
| RET | rs1800861 | c.2307T>G | p.L769= | NM_020975 | 29 |
| RET | rs1800863 | c.2712C>G | p.S904= | NM_020975 | 17 |
| SMARCB1 | rs5030613 | c.1119-41G>A | NA | NM_003073 | 15 |
| STK11 | rs2075606 | c.465-51T>C | NA | NM_000455 | 36 |
a.a. change, amino acid change; cDNA, complementary DNA; NA, not applicable, located within introns; Ref. number, reference sequence number.
aMinor allele frequency (MAF) according to the 1000 Genomes database.