TABLE 1.
Mutational overview of the CEBPA gene in Mexican patients with pediatric AML.
| Patient ID | Coding consequence | cDNA | Protein consequence | VF (%) | COSMIC ID | dbSNP | Co-occurring mutations |
| M160 | frameshift | c.68dupC | p.His24Alafs*84 | 39.2 | COSM18922 | rs137852729 | NRAS, ZRSR2, EZH2 |
| inframe_24 | c.918_919ins24 | p.Arg306_Asn307ins8 | 42.8 | Novel | / | ||
| M138 | frameshift | c.146delC | p.Pro49Argfs*111 | 50.5 | COSM5064965 | / | WT1, CALR, PTPN11 |
| inframe_3 | c.946_947insGGA | p.Glu316delinsGlyLys | 48.2 | Novel | / | ||
| M173 | frameshift | c.180_183delGTCC | p.Ile62Thrfs*97 | 44.8 | Novel | / | ASXL1 |
| inframe_6 | c.926_932delAGACGCAinsT | p.Glu309_Gln311delinsVal | 42.7 | Novel | / | ||
| M126 | frameshift | c.174_184delCGAGACGTCCA | p.Glu59Argfs*45 | 49.2 | COSM29261 | / | FLT3, CSF3R, CALR, PTPN11 |
| inframe_3 | c.934_936dupCAG | p.Gln312dup | 49.6 | COSM18466 | / | ||
| M162 | frameshift | c.292delA | p.Thr98Argfs*62 | 94.4 | Novel | / | CSF3R |
| M148 | frameshift | c.247delC | p.Gln83Serfs*77 | 42.5 | COSM1375 | / | FLT3, WT1, PTPN11 |
| M132 | frameshift | c.426delG | p.Arg142Serfs*18 | 48.7 | Novel | / | IDH2 |
| M157 | inframe_3 | c.311_313dupGCG | p.Gly104dup | 1.8 | / | rs780345232 | RUNX1, PTPN11 |
| M168 | inframe_3 | c.334_336delCCC | p.Pro112del | 1.3 | Novel | / | ETV6 |
| M183 | inframe_3 | c.564_566dupGCC | p.Pro189dup | 1.2 | Novel | / | FLT3, TET2, RUNX1, CBL |
VF, variant fraction; COSMIC, catalogue of somatic mutations in cancer; NM_004364 was used for variant annotation.