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.
PKD1 mutations detected by WGS*.
| cDNA Change | Protein | Mean Depth | Quality |
|---|---|---|---|
| c.11863dupC | p.Q3955fs | 25 | 40.3 |
| c.5014_5015delAG | p.Arg1672Glyfs*98 | 34 | 34.9 |
| c.6727 C > T | p.Q2243X | 37 | 40.1 |
*The genomes of 4 ADPKD with known mutations where analyzed using WGS. 3 out 4 mutations were detected successfully while the c.12627_12655dup29 was missed.
