Table 1.
Codon and gene coverage of the 1052-amplicon panel
| Gene | Transcript | Codon |
|---|---|---|
| ABL1 | ENST00000318560 | 85–505 |
| AKT1 | ENST00000349310 | 1–96, 146–189, 277–391, 455–481 |
| AKT2 | ENST00000392038 | 192–320 |
| BRAF | ENST00000288602 | 393–664 |
| CDH1* | ENST00000261769 | 1–883 |
| CDK4 | ENST00000257904 | 1–73, 228–273 |
| CDKN2A* | ENST00000446177 | 1–153 |
| CEBPA* | ENST00000498907 | 1–359 |
| CREBBP | ENST00000262367 | 1–29, 853–929, 1328–1465, 1725–1761, 2196–2299 |
| CTNNB1* | ENST00000396185 | 1–782 |
| EGFR* | ENST00000275493 | 1–1211 |
| ERBB2 | ENST00000269571 | 147–215 |
| FES | ENST00000328850 | 72–223 |
| FGFR1* | ENST00000447712 | 1–823 |
| FGFR3 | ENST00000340107 | 206–760 |
| FLT3 | ENST00000241453 | 437–685, 807–885 |
| FOXL2 | ENST00000330315 | 91–158 |
| GATA1 | ENST00000376670 | 1–200 |
| GNA11 | ENST00000078429 | 202–245 |
| GNAQ | ENST00000286548 | 159–245 |
| HIF1A* | ENST00000337138 | 1–827 |
| HRAS* | ENST00000397594 | 1–150 |
| IDH1 | ENST00000345146 | 41–174, 284–331 |
| IDH2 | ENST00000330062 | 125–178 |
| IKBKB | ENST00000520810 | 311–375, 580–662 |
| JAK2 | ENST00000381652 | 443–711, 858–903 |
| KIT* | ENST00000288135 | 1–977 |
| KRAS* | ENST00000256078 | 1–150 |
| MEN1* | ENST00000377326 | 1–611 |
| MET | ENST00000318493 | 981–1330 |
| MPL | ENST00000372470 | 180–230, 440–522 |
| NF2* | ENST00000361166 | 1–579 |
| NOTCH1* | ENST00000277541 | 21–2556 |
| NPM1 | ENST00000393820 | 47–118 |
| NRAS | ENST00000369535 | 1–97 |
| PAX5 | ENST00000358127 | 71–137, 304–367 |
| PDGFRA | ENST00000257290 | 552–960, 1041–1090 |
| PIK3CA | ENST00000263967 | 21–106, 301–353, 418–582, 672–729, 889–1069 |
| PIK3R1* | ENST00000521657 | 1–725 |
| PTCH1* | ENST00000331920 | 1–1448 |
| PTEN* | ENST00000371953 | 1–404 |
| PTPN11 | ENST00000351677 | 46–111, 483–533 |
| RB1* | ENST00000267163 | 1–491, 500–929 |
| RET | ENST00000355710 | 627–694, 870–934 |
| SMAD4* | ENST00000342988 | 1–302, 319–553 |
| SMARCB1* | ENST00000263121 | 1–386 |
| SMO* | ENST00000249373 | 1–788 |
| SRC* | ENST00000445403 | 1–537 |
| STK11* | ENST00000326873 | 1–434 |
| TP53* | ENST00000269305 | 1–394 |
| VHL | ENST00000256474 | 1–52, 104–214 |
The table shows the list of genes, transcripts and codons targeted by the 1052-amplicon panel. In sum, the panel covers over 10,000 mutations annotated in v64 of the COSMIC database, including single nucleotide variants (SNVs) and small indels up to 2 bp. The transcript models used for codon identification are based on Ensembl Genomes release 17 (GRCh37). *All codons are covered in the genes marked with an asterisk.