Novel mutations identified in this study
| Gene symbol | Nucleotide change | Protein change | Mutation type | TMB | MSI status |
|---|---|---|---|---|---|
| APC | c.3921dupA | p.I1307fs | Frameshift insertion | 1.63 | MSS |
| APC | c.1908dupT | p.G636fs | Frameshift insertion | 3.45 | MSS |
| ATM | c.1713delT | p.S571fs | Frameshift deletion | 2.3 | MSS |
| ATM | c.7411_7412insATTT | p.I2471fs | Frameshift insertion | 34.05 | MSI-H |
| ATM | c.T3900G | p.Y1300X | Nonsense mutation | 5.34 | MSS |
| ATM | c.7366_7367del | p.K2456fs | Frameshift deletion | 2.63 | MSS |
| ATM | c.6129dupC | p.G2043fs | Frameshift insertion | 3.38 | MSS |
| BLM | c.C3678A | p.C1226X | Nonsense mutation | 0.68 | MSS |
| BLM | c.1440dupT | p.S480fs | Frameshift insertion | 0.63 | MSS |
| BLM | c.3354delC | p.F1118fs | Frameshift deletion | 3.28 | MSS |
| BRIP1 | c.C1471T | p.Q491X | Nonsense mutation | 0.88 | MSS |
| EXT2 | c.C174G | p.Y58X | Nonsense mutation | 3.05 | MSS |
| MRE11A | c.929_930insTGATTAGCTAGAACAATATCCTCCATGAAAAAC TGCCGCACTGTGTGAAGAGGAATTTTATGCATATTCATCTTCA CACAGTGCGGCAGTTTTTCATGGA | p.E310_D311delinsDDX | Nonsense mutation | 2.23 | MSS |
| MSH2 | c.838_839insTG | p.L280fs | Frameshift insertion | 47.33 | MSI-H |
| MSH2 | c.175delA | p.K59fs | Frameshift deletion | 23.33 | MSI-L |
| MSH2 | c.1602dupT | p.R534fs | Frameshift insertion | 14.98 | MSS |
| MSH2 | c.T1764A | p.Y588X | Nonsense mutation | 51.4 | MSI-H |
| MSH2 | c.C2271G | p.Y757X | Nonsense mutation | 1.1 | MSI-H |
| MSH6 | c.2554_2555del | p.K852fs | Frameshift deletion | 36.64 | MSI-H |
| MSH6 | c.1866dupA | p.I622fs | Frameshift insertion | 36.43 | MSI-H |
| MSH6 | c.1698delA | p.G566fs | Frameshift deletion | 54.73 | NA |
| MSH6 | c.994delG | p.E332fs | Frameshift deletion | 2.18 | MSS |
| MSH6 | c.2740dupA | p.D913fs | Frameshift insertion | 43.38 | MSI-H |
| NBN | c.1651delA | p.R551fs | Frameshift deletion | 25.23 | MSS |
| NF1 | c.3198-1G>T | NA | Splicing | 3.25 | NA |
| NTRK1 | c.474_475del | p.W158fs | Frameshift deletion | 34.05 | MSI-H |
| NTRK1 | c.477_478insGC | p.L159fs | Frameshift insertion | 34.05 | MSI-H |
| NTRK1 | c.477_478insGC | p.L159fs | Frameshift insertion | 25.23 | MSS |
| NTRK1 | c.474_475del | p.W158fs | Frameshift deletion | 25.23 | MSS |
| PALB2 | c.1400delG | p.G467fs | Frameshift deletion | 5.34 | MSS |
| PMS2 | c.1145-1G>A | NA | Splicing | 0.65 | MSS |
| RAD50 | c.887delT | p.V296fs | Frameshift deletion | 5.83 | MSS |
| RAD50 | c.134delT | p.I45fs | Frameshift deletion | 10.69 | MSS |
| RAD51D | c.627dup | p.A210Cfs*114 | Frameshift insertion | 18.08 | MSS |
| SDHA | c.1064+2T>C | NA | Splicing | 2.58 | MSS |