| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6302049G>T | CA319834 | WFS1 | c.2290G>T (p.Glu764Ter) c.2231G>T c.2254G>T (p.Glu752Ter) c.2005G>T (p.Glu669Ter) c.1913G>T (n.1913G>T) n.2439G>T c.2263G>T (p.Glu755Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6302049G= | CA1435772266 | WFS1 | c.2290G= (p.Glu764=) c.2231G= c.2254G= (p.Glu752=) c.2005G= (p.Glu669=) c.1913G= (n.1913G=) n.2439G= c.2263G= (p.Glu755=) | dbSNP |