Table 1: Mutational profile of AML#1 at diagnosis and follow-up.

PtGeneLocusNM_IDExonTypeCodingAmino acid changeVAF (%)Variant effect

AML#1DxDNMT3Achr2:25462022NM_022552.420SNVc.2385G > Ap.Trp795Ter4.45Nonsense
TET2chr4:106164773NM_001127208.26SNVc.3641G > Ap.Arg1214Gln3.20Missense
IDH2chr15:90631837NM_002168.34SNVc.515G > Ap.Arg172Lys6.06Missense
BCORChrX:39931683NM_001123385.14INDELc.2915_2916insAp.Tyr972Ter4.76Nonsense
AML#1F-UPDNMT3Achr2:25462022NM_022552.420SNVc.2385G > Ap.Trp795Ter38.20Nonsense
IDH2chr15:90631837NM_002168.34SNVc.515G > Ap.Arg172Lys39.80Missense
TP53chr17:7578242NM_000546.56SNVc.607G > Ap.Val203Met5.25Missense
BCORchrX:39931683NM_001123385.14INDELc.2915_2916insAp.Tyr972Ter42.08Nonsense

Pt: patient; Dx: diagnosis; F-UP: follow-up; SNV: single-nucleotide variant; INDEL: insertion/deletion; ins: insertion.