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. 2023 Jan 24;4(1):305–308. doi: 10.1002/jha2.646

TABLE 1.

SNPs of the ALK gene of each tumour sample by RNA sequence analysis

Sample Mutation of ALK gene ClinVar Nucleotide change rs number
Small‐sized tumour cells at onset D1529E Benign c.4587C > G rs1881421
K1491R Benign c.4472A > G rs1881420
I1461V Benign c.4381A > G rs1670283
Large‐sized tumour cells at onset D1529E Benign c.4587C > G rs1881421
K1491R Benign c.4472A > G rs1881420
I1461V Benign c.4381A > G rs1670283
Small‐sized tumour cells at the first relapse D1529E Benign c.4587C > G rs1881421
K1491R Benign c.4472A > G rs1881420
I1461V Benign c.4381A > G rs1670283
Large‐sized tumour cells of the pulmonary tumour at the second relapse L1196M Likely pathogenic c.3586C > A rs1057519784
D1529E Benign c.4587C > G rs1881421
K1491R Benign c.4472A > G rs1881420
I1461V Benign c.4381A > G rs1670283

Note: Large tumour cells of the pulmonary tumour at the second relapse acquired an L1196M mutation in the ALK gene.

Abbreviation: SNPs, single nucleotide polymorphisms.