INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.2028260G>A | CA126276 | GABRD | c.659G>A (p.Arg220His) c.690G>A (p.Pro230=) n.1218G>A c.402G>A c.137G>A (p.Arg46His) c.*645G>A (n.*645G>A) n.1238G>A n.1263G>A c.599G>A (p.Arg200His) c.743G>A (p.Arg248His) n.1008G>A n.668G>A n.1366G>A c.466G>A c.698G>A (p.Arg233His) c.1364G>A (p.Arg455His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2028260G= | CA1140613085 | GABRD | c.659G= (p.Arg220=) c.690G= (p.Pro230=) n.1218G= c.402G= c.137G= (p.Arg46=) c.*645G= (n.*645G=) n.1238G= n.1263G= c.599G= (p.Arg200=) c.743G= (p.Arg248=) n.1008G= n.668G= n.1366G= c.466G= c.698G= (p.Arg233=) c.1364G= (p.Arg455=) | dbSNP |