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%) | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
A | B | C | D | E | F | G | H | |||||
7:140453136 | NM_004333.4 | c.1799T>A | p.Val600Glu | P (99.6) | N | N | N | N | N | P (13.4) | N | |
7:55242465 | NM_005228.5 | c.2235_2249del | p.Glu746_Ala750del | N | N | P (74.0) | N | N | N | N | N | |
7:55249071 | NM_005228.5 | c.2369C>T | p.Thr790Met | N | N | N | N | N | P (77.0) | N | N | |
7:55259515 | NM_005228.5 | c.2573T>G | p.Leu858Arg | N | N | N | P (91.7) | N | P (72.7) | N | N | |
4:55570011 | NM_000222.2 | c.878A>G | p.Asn293Ser | N | N | P (51.6) | N | N | N | N | N | |
12:25398285 | NM_004985.5 | c.34G>A | p.Gly12Ser | N | P (99.5) | N | N | N | N | N | N | |
16:23646191 | NM_024675.3 | c.1676A>G | p.Gln559Arg | P (99.7) | N | N | N | P (67.1) | N | N | N | |
3:178917478 | NM_006218.4 | c.353G>A | p.Gly118Asp | N | N | N | N | N | P (60.9) | N | N | |
17:7577538 | NM_000546.5 | c.743G>A | p.Arg248Gln | N | N | P (100.0) | N | P (100.0) | N | N | N | |
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.