Table V.
Additional variations.
| Case | Gene | Nucleotide change | AA change | AF A (%) | AF C (%) |
|---|---|---|---|---|---|
| 1 | – | – | – | – | – |
| 2 | TP53 | c.469G>T | p.V157F | 80 | 79 |
| 3 | TP53 | c.637C>T | p.R213* | 79 | 34 |
| 4 | – | – | – | – | – |
| 5 | NKX2.1 | c.515A>C | p.Q172P | n.i. | 23 |
| RB1 | c.2267delA | p.Y756fs | n.i. | 91 | |
| TP53 | c.733G>T | p.G245C | 87 | 91 | |
| 6 | TP53 | c.641A>G | p.H214R | 33 | 23 |
| 7 | TP53 | c.830G>T | p.C277F | 23 | 44 |
| 8 | – | – | – | – | – |
| 9 | KRAS | c.35G>A | p.G12D | 2 | 5 |
| 10 | n.a. | n.a. | |||
| 11 | TP53 | c.1073C>T | p.P295S | 1 | 5 |
| JAK3 | c.2164G>A | p.V722I | n.i. | 37 | |
| 12 | TP53 | c.610G>T | p.E204* | 7 | 25 |
| 13 | – | – | – | – | – |
| 14 | ATM | c.2572T>C | p.F858L | n.i. | 66 |
| 15 | TP53 | c.913A>T | p.K305 | 26 | 20 |
| KIT | c.1621A>C | p.M541L | n.i. | 57 | |
| 16 | SMO | c.979G>A | p.A327T | n.i. | 45 |
| 17 | – | – | – | n.a. | – |
| 18 | TP53 | c.530C>G | p.P177R | 26 | 8 |
| 19 | TP53 | c.725G>A | p.C242Y | 81 | 34 |
| TP53 | c.555C>G | p.S185R | 73 | n.i. | |
| KIT | c.1621A>C | p.M541L | n.i. | 78 | |
| PIK3CA | c.1633G>A | p.E545K | 44 | 4 | |
| 20 | – | – | – | – | – |
| 21 | PIK3CA | c.1624G>A | p.E542K | 18 | 17 |
| 22 | CTNNB1 | c.98C>G | p.S33C | 33 | 31 |
| 23 | NOTCH1 | c.3604C>T | p.P1202S | n.i. | 5 |
| RBM10 | c.79delG | p.G27fs | n.i. | 17 | |
| 24 | – | – | – | – | – |
| 25 | SMARCA4 | c.3634G>A | p.E1212K | n.i./n.a. | 5 |
| KRAS | c.35G>A | p.G12D | n.a. | 10 | |
| 26 | KRAS | c.35G>A | p.G12D | 26 | 29 |
| 27 | KEAP1 | c.1426G>T | p.G476W | n.i. | 45 |
| MAP2K1 | c.171G>T | p.K57N | 45 | n.i. | |
| 28 | CDK6 | c.584G>T | p.S195I | n.i. | 13 |
| CDKN2A | c.253C>T | p.Q85 | n.i. | 6 | |
| 29 | HRAS | c.59C>T | p.T20I | n.i. | 5 |
| BRAF | c.1406G>A | p.G469E | FA | – | |
| NRAS | c.178G>A | p.G60R | FA | – | |
| PIK3CA | c.1633G>A | p.E545K | FA | – | |
| 30 | – | – | – | – | – |
Besides the epidermal growth factor receptor (EGFR) mutations, additional mutations could be identified with the extended primer sets used in institutes A and C. Concordance was found in 15 additional variations whereas 16 variants could not be confirmed by the other institute due to missing primer panel inclusion. Fixation artefacts were observed in sample 29. AA, amino acid; AF, allele frequency; FA, fixation artefact; n.a., not analysable; n.i., not included in primer panel; -, no variant found.