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Nomenclature for the description of mutations and other sequence variations
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Indicate the reference sequence: DNA coding DNA c. genomic DNA g. mitochondrial DNA m. RNA r. Protein p. Code: substitution (for bases) > range more change in one allele ; more transcripts / mosaicism , uncertain () allele [ ] deletion del duplication dup insertion ins inversion inv conversion con extension ext stop codon X frame shift fsX opposite strand o translocation tdoi:10.4267/2042/44599 fatcat:eaduzoqtdfeo5apxpxxjeciv5q