Table 1.
Gene | Chr | HGVS DNA ref | HGVS Protein ref | Variant type | Predicted effect | Allele frequency | Target coverage | Mutation read count |
---|---|---|---|---|---|---|---|---|
KLC1–ALK | 2 | t(2;14)(p23.1;32.33) (hg19 Chr 2:29,223,717:Chr 14:103,673,469) | n/a | KLC1–ALK fusion | Oncogenic, sensitivity to ALK inhibitor | 8.09% | 5860× | 474 |
ALK | 2 | c.3521T>G | p.F1174C | Substitution | Crizotinib resistance | 0.27% | 10,316× | 28 |
ALK | 2 | c.3522C>A | p.F1174L | Substitution | Crizotinib resistance | 0.79% | 10,192× | 81 |
ALK | 2 | c.3522C>G | p.P1174L | Substitution | Crizotinib resistance | 3.26% | 10,192× | 332 |
ALK | 2 | c.3806G>C | p.G1269A | Substitution | Crizotinib resistance | 0.51% | 16,190× | 83 |