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. 2020 Sep 25;60(3):87–96. doi: 10.3960/jslrt.20021

Table 2. TP53 and CDKN2A mutations.

N Diag. Gene Mut. Changed DBD Func. MSKCC impact FATHMM
Impact
DNA amino acid
5 DL TP53 N c.586C>T p.R196 + LOF NA Onco./ Cancer
11 HBS NOS TP53 M c.738G>A p.M246I + LOF Med. Onco./ Cancer
16 DL TP53 M c.818G>A p.R273H + LOF Med. Onco./ Cancer
28 HBL
DH
TP53 M c.417G>T c.700T>G p.K139N p.Y234D + LOF LOF Med. Onco./ Cancer
32 BL TP53 M c.843C>A p.D281E + LOF Med. Onco./ Cancer
44 DL TP53 M c.413C>T p.A138V + LOF Med. Onco./ Cancer
52 DL TP53 M c.817C>G p.R273G + LOF Med. Onco./ Cancer
58 DL TP53 M c.701A>G p.Y234C + LOF Med. Onco./ Cancer
62 HBL
NOS
TP53 M c.847C>T p.R283C + LOF Low Onco./ Cancer
66 DL TP53 M c.542G>C p.R181P + LOF Med. Onco./ Cancer
5 DL CDKN2A M c.442G>A p.A148T - LOF? Med. Neut./ Cancer
35 BL CDKN2A M c.442G>A p.A148T - LOF? Med. Neut./ Cancer
46 DL CDKN2A M c.442G>A p.A148T - LOF? Med. Neut./ Cancer
66 DL CDKN2A M c.442G>A p.A148T - LOF? Med. Neut./ Cancer

N: case number, Diag: diagnosis, DL: diffuse large B-cell lymphoma, HBL NOS: high-grade B-cell lymphoma not otherwise specified, HBL DH: high-grade B-cell lymphoma double hit, BL: Burkitt lymphoma, Mut: mutational type, N: nonsense mutation, M: missense mutation, DBD: DNA-binding region, Func: function, LOF: loss of function, NA: not available, Med: medium impact, Onco: oncogenic impact, Neut: neutral impact, Cancer: cancer-associated variant