Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Gender: The gender of the reported individual.
All options:

• ? = Unknown
• F = Female
• M = Male
• rF = Raised as female
• rM = Raised as male

Remarks: Remarks about the individual.

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Panel size: How many individuals does this entry represent?