This section of the database catalogs all published mutations and variants in FA genes. As the number of variants increase, we hope to institute a searchable database, but at the moment we simply offer a list of variants broken down into the categories below. The lists are sorted by position within the gene.
The nomenclature used adheres to the guidelines proposed by the Mutation Database Initiative. For published mutations, we have given the "correct" nomenclature as well as the original name for the mutation. We are not suggesting that mutations that have entered the literature should now be referred to with a new name; the standardized nomenclature is simply included for consistency.
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