Table 1 Mutations in the tumor tissue identified by the 11-gene NGS panel
Gene | cHGVS | pHGVS | Frequency | ClinVar ID | Cosmic ID |
|---|---|---|---|---|---|
MSH6 | c.1828 A > G | p.K610E | 47.99% | rs1172760455 | No record |
MSH6 | c.3293G > A | p.C1098Y | 5.65% | rs876660564 | COSM6956245 |
MSH6 | c.3700G > T | p.E1234* | 5.52% | No record | COSM1021305 |
MSH6 | c.3964G > T | p.E1322* | 6.16% | No record | COSM288679 |
KRAS | c.35G > T | p.G12V | 6.48% | rs121913529 | COSM520 |
POLE | c.833 C > A | p.T278K | 5.49% | No record | No record |
TP53 | c.607G > A | p.V203M | 4.83% | rs730882003 | COSM43599 |
TP53 | c.604 C > T | p.R202C | 4.37% | rs587780072 | COSM46074 |