Genetic variation overview
- 63526 total missense variations.
- 157.1 average rare missense variants per receptor.
- 4.9 average common missense variants per receptor.
- 3837 total loss-of-function variants (frameshift and stop-gained mutations).
The classification tree highlights receptor variants (missense and loss-of-function) and variation density (fraction of receptor length).
Clicking on the receptor level links to a more detailed table of variant information.
The data set presented spans 60,706 unrelated individuals from the Exome Aggregation Consortium (ExAC) from multiple population genetic studies.