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 |
|---|---|---|---|---|---|
| 2 | g.171787637T>C | CA117976 | SLC25A12 | c.1769A>G (p.Gln590Arg) c.*1389A>G (n.*1389A>G) n.1179A>G n.1745A>G c.1718A>G (p.Gln573Arg) c.1744+152A>G (n.1744+152A>G) c.1496A>G (p.Gln499Arg) n.2692-5887T>C n.1683A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.171787637T= | CA1307514189 | SLC25A12 | c.1769A= (p.Gln590=) c.*1389A= (n.*1389A=) n.1179A= n.1745A= c.1718A= (p.Gln573=) c.1744+152A= (n.1744+152A=) c.1496A= (p.Gln499=) n.2692-5887T= n.1683A= | dbSNP |