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MutationMapper

MutationMapper is built to help simplify determining the functional consequences of mutations discovered using low-throughput sequencing methods (e.g. Sanger sequencing) and to map CDS coordinates to genomic positions. For details of how to use MutationMapper see the instructions PDF available using the 'help' option in the application or available here.

MutationMapper v2.0 uses Ensembl’s REST API to search genes, sequences and determine functional consequences of mutations. It therefore only works when an internet connection is available. Previous versions used an offline database but were limited to human genes and had reduced functionality compared to the new cross-platform version.

Source: README.md, updated 2015-05-12