Table 1 NSCLC case study. Gene mutations retrieved from ClinVar. Gene name, accession number, mutation, clinical significance and literature references are reported, respectively

EGFR

NM_005228.4(EGFR)

c.2573T>G (p.Leu858Arg)

Pathogenic-drug response

([61])

ERBB2

NM_001005862.2(ERBB2)

c.2223_2234dupATACGTGATGGC

Pathogenic/Likely pathogenic

([62])

(p.Ala745_Gly746insTyrValMetAla)

ALK

NM_004304.4(ALK)

c.3522C>A (p.Phe1174Leu)

Pathogenic/Likely pathogenic

([63])

PTEN

NM_000314.6(PTEN)

c.697C>T (p.Arg233Ter)

Pathogenic

([64])

KRAS

NM_004985.4(KRAS)

c.437C>T (p.Ala146Val)

([65])

BRAF

NM_004333.5(BRAF)

c.1794_1796dup (p.Thr599_Val600insThr)

Pathogenic-drug response

([66])

PI3K

NM_006218.3(PIK3CA)

c.3140A>G (p.His1047Arg)

Pathogenic/Likely pathogenic

([67, 68])

AKT1

NM_005163.2(AKT1)

c.49G>A (p.Glu17Lys)

Pathogenic/Likely pathogenic

([69, 70])

MEK/MAP2K1

NM_002755.3(MAP2K1)

c.167A>C (p.Gln56Pro)

Pathogenic

([71, 72])

EML4-ALK-p16

chr2:29446394..42552694 inversion

Pathogenic

([73])