They analyze data and display results either as graphics or lists. If you wish to access a list of mutations with corresponding patients, you need to use the "Search" button on the left and use one of the 3 choices (Large lesions / Large deletions or Large duplications) from the "Type and number of mutations".
This function displays the distribution of mutations at the nucleotide level to identify preferential mutations sites.
Is comparable to position but also indicates the mutational event types. The result can be either displayed as a table or a graphic.
This option is similar to mutational events but it also includes the frequency of mutations at each position.
Displays the relative distribution of mutations at all sites sorted by frequency. Two graphic presentations are also available (frequency and cumulated frequency).
Displays the mutational event distribution profile. A graphical presentation is also available (frequency of events).
Determines for each mutation corresponding to a deletion if flanking repeated sequences could be involved in the aetiology of this mutation.
Determines for each mutation corresponding to an insertion if repeated sequences could be involved in the aetiology of this mutation.
This feature displays a graphical distribution of mutations along the gene and the protein. A zoom can be performed on a region of interest.
This feature displays a graphical distribution of mutations along the gene and the protein. A zoom can be performed on a region of interest.
This feature displays the impact of the various mutations at the codon level. The mutation profile of each base according to its position in the codon is available.
This feature displays the impact of the various mutations at the aa level. For each aa is given its frequence in the protein, the expected number of mutations if a random distribution was observed and the true number of mutations affecting this residue. A summary table is also available.
This feature displays the intronic variations and their possible impact on donor and acceptor splice sites as well as branch points.
This feature displays the distribution of the various mutations along the gene with special emphasis on CpG dinucleotides.
This feature displays the distribution of mutations both in the various structural domains of the protein and in key residues.
This option displays the impact of small lesions on the various dystrophin isoforms.