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. 2019 Dec;5(6):a004630. doi: 10.1101/mcs.a004630

Table 1.

Genomic findings

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