Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Participant Mutation Type
| All (n = 1075) | Development Sample (n = 713) | Validation Sample (n = 362) | |
|---|---|---|---|
| Common Point Mutations | |||
| R106W | 3% | 3% | 4% |
| R133C | 6% | 6% | 5% |
| T158M | 10% | 10% | 10% |
| R168X | 11% | 11% | 9% |
| R255X | 9% | 10% | 9% |
| R270X | 6% | 5% | 6% |
| R294X | 6% | 6% | 6% |
| R306C | 8% | 9% | 8% |
| Other Point Mutations | 6% | 6% | 6% |
| C-terminal Truncations | 10% | 10% | 11% |
| Early Truncating | 9% | 9% | 7% |
| Large Deletion | 9% | 8% | 10% |
| Exon1 | 1% | 1% | 2% |
| Splice Site | 1% | 1% | 1% |
| None | 2% | 2% | 3% |
| Missing | 3% | 2% | 3% |
