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. 2023 Dec;9(4):a006283. doi: 10.1101/mcs.a006283

Table 1.

Gene mutational profile at presentation (8/2018) and relapse (9/2019)

Gene 8/2018 Peripheral blood 2018 Mutation effect 2018 Mutation VAF (%) 9/2019 Ascitic fluid 2019 Mutation VAF (%) 2019 Mutation effect Pathogenic
CD79B c.586T > C p.Y196H Missense 35 c.586T > C p.Y196H 43 Missense Yes
MYD88 c.794T > C p.L265P Missense 35 c.794T > C p.L265P 63 Missense Yes
TBL1XR1 c.1337A > G p.Y446C Missense 30 c.1337A > G p.Y446C 34 Missense Yes
TBL1XR1 c.1192A > T p.K398a Nonsense 34 c.1192A > T p.K398a 60 Nonsense Yes
TP53 c.742C > T p.R248W Missense 39 c.742C > T p.R248W 90 Missense Yes
PIM1 c.373C > T p.P125S Missense 51 c.373C > T p.P125S 64 Missense Uncertain
PIM1 c.149G > A p.G50D 28 Missense Uncertain
PIM1 c.97C > T p.P33S 29 Missense Uncertain
ETV6 c.33 + 1G > A Splice donor 53 0 Yes
BTK c.1442G > C p.C481S 45 Missense Yes
FOXO1 c.482G > A p.G161D 47 Missense Yes
NF1 c.7064G > T p.S2355I 50 Missense Uncertain
NOTCH1 c.2856C > A p.D952E 47 Missense Uncertain
ABL2 c.2503G > T p.A835S 30 Missense Uncertain
BRAF c.1600G > A p.G534S Missense 37 c.1600G > A p.G534S 41 Missense Uncertain

(VAF) Variant allele frequency.