Table 1 Gene variants with functional and/or clinical significance detected by the TSO500 assay
Gene | Allele frequency | Coverage | Variant (p.) | Variant (c.) | Exon | Information |
|---|---|---|---|---|---|---|
APC | 67.25 | 858 | NP_000029.2: p.(His1490IlefsTer17) | NM_000038.5: c.4468del | 16/16 | Truncated protein, likely loss-of-function (OncoKB), pathogenic (ClinVar) |
IDH1 | 23.88 | 934 | NP_005887.2: p.(Arg132Cys) | NM_005896.3: c.394 C > T | 4/10 | Activating (Jax-CKB) |
KRAS | 51.62 | 494 | NP_203524.1: p.(Gly12Cys) | NM_033360.3: c.34G > T | 2/6 | Activating (Jax-CKB) |