Table 1.
Gene mutations associated with hematological disorders detected in this patient
| Mutated gene | Transcript ID | Mutation location | Nucleotide change | Amino acid change | dbSNP | Mutation frequency (%)† |
|---|---|---|---|---|---|---|
| CBL* | NM-005188 | Exon 8 | c.1151G>A | p.C384Y | -- | 97.1 |
| TPMT# | NM-000367 | Exon 9 | c.659T>C | p.V200A | -- | 6.6 |
| SF3A1# | NM-005877 | Exon 4 | c.423C>G | p.I141M | -- | 53.2 |
| ARID1A# | NM-006015 | Exon 16 | c.3999-4001dupGCA | p.Q1334dupQ | rs570962335 | 47.1 |
*
The mutations location is identified as being associated with CMML in specific studies, or is definitively to mediated functional changes of disease-related proteins.
#
The mutation location has not yet been associated with CMML in published reports, but is supported by at least two databases.
dbSNP: database of single Nucleotide Polymorphisms;
†
Reported frequency of the mutation in this patient.