The database currently contains 554 pathogenic mutations in 895 patients, 93 unclassified variants in 98 patients, and 102 benign variants. Published data are available for 709 patients. Data from 364 patients are unpublished.
You can search by typing any search term in the search field, like cDNA (e.g. '160delC', '232C>T') or protein (e.g. 'Lys643fs', 'Arg2024X') notations of mutations, or specific phenotypes (e.g. 'coloboma').
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