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Table. 1.

List of selected variants detected in cell lines used in the study

Gene Position by hg19 Accession no. Variant description Amino acid change Cell lines (VAF%)

BRAF 7:140453136 NM_004333.4 c.1799T>A p.Val600Glu P (99.6) N N N N N P (13.4) N
EGFR 7:55242465 NM_005228.5 c.2235_2249del p.Glu746_Ala750del N N P (74.0) N N N N N
EGFR 7:55249071 NM_005228.5 c.2369C>T p.Thr790Met N N N N N P (77.0) N N
EGFR 7:55259515 NM_005228.5 c.2573T>G p.Leu858Arg N N N P (91.7) N P (72.7) N N
KIT 4:55570011 NM_000222.2 c.878A>G p.Asn293Ser N N P (51.6) N N N N N
KRAS 12:25398285 NM_004985.5 c.34G>A p.Gly12Ser N P (99.5) N N N N N N
PALB2 16:23646191 NM_024675.3 c.1676A>G p.Gln559Arg P (99.7) N N N P (67.1) N N N
PIK3CA 3:178917478 NM_006218.4 c.353G>A p.Gly118Asp N N N N N P (60.9) N N
TP53 17:7577538 NM_000546.5 c.743G>A p.Arg248Gln N N P (100.0) N P (100.0) N N N
TP53 17:7578290 NM_000546.5 c.560-1G>A p.? N N N P (100.0) N N N N

Abbreviations: VAF, variant allele frequency; P, positive; N, negative.

Lab Med Qual Assur 2022;44:174~180
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