Table 3

Types and locations of mutations detected in CEBPA gene

MutationCCS (count/%)CEBNX (count/%)TMSP (count/%)
TAD1TAD2DBDbZIPOthersTotalTAD1TAD2DBDbZIPOthersTotalTAD1TAD2DBDbZIPOthersTotal
Insertion012003 (10.3%)012003
(9.4%)
102003 (10.34%)
Deletions3430313 (44.8%)3430313 (40.6%)2420210 (34.48%)
Duplications224019 (31.0%)3240110 (31.3%)204017 (24.14%)
Substitution201014 (13.8%)212016 (18.8%)131139 (31.03%)
Total7 (24.14%)7 (24.14%)10 (34.84%)05 (17.24%)298 (25.0%)8 (25.0%)11 (34.4%)05 (15.6%)326 (20.69%)7 (24.14%)9 (31.03%)1 (3.45%)6 (20.69%)29
  • ARD, alternatereaddepth; bZIP, basic leucine zipper; CCS, conventional capillary sequencing; CEBNX, CEBPA-specific Nextera XT; DBD, DNA-bindingdomain; NA, not available; TAD1, transactivationdomain1; TAD2, transactivationdomain2; TMSP, TruSight Myeloid Sequencing Panel; TRD, totalreaddepth; VAF, variant allele frequencies.