The invention discloses a DNA and protein level mutation analysis method. The method comprises the steps of 1, reading a gene mutation file, and formatting the file into a standard name; 2, indexing a transcript sequence, gene information and gene transcript annotation information, thereby forming an amino acid codon corresponding relationship table; judging a mutation level and a mutation mode, and judging whether a mutation name is protein level mutation, genome DNA level mutation or CDS code area mutation; and 4, entering different level mutation mapping processes according to a judging result of the step 3, thereby obtaining mapping relationships of three mutation names. According to the method, the mapping relationships of various mutation names are output by carrying on phenotypic correlation gene mutation and polymorphic sites mined from literatures, thereby finishing annotating correspondence between pathogenic variation mined from the literatures, and gene mutation and polymorphic sites identified by sequencing.