This list includes all the mutations that are found as a single cluster-mapping mutation on a patient in the database.

Heterozygous mutations have been categorized into three groups (recessive, unclear & putatively-dominant) based on available evidence. Mutations found in heterozygous patient cases without any other explanatory factors or further evidence for the condition of the patients are categorized as having "unclear" dominant pathogenicity. Mutations in which the case report indicated they are likely not the root cause for the condition of the patient have been categorized in the "recessive" group. In the analysis, biochemical data and reported asymptomatic carriers have also been taken into account when assigning mutations into the three groups.

For more information on how the mutations have been analysed, please see the references page.

List of mutations that are reported as SNPs in the database; this list may not be complete. For more information on how the mutations have been analysed, please see the references page.