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 |
|---|---|---|---|---|---|
| 15 | g.25354570dup | CA335652 | SNHG14,UBE3A | c.2178dup (p.Phe727IlefsTer7) c.2238dup (p.Phe747IlefsTer7) c.2247dup (p.Phe750IlefsTer7) c.2061dup (p.Phe688IlefsTer7) n.4934dup c.189dup (p.Phe64IlefsTer7) c.92-144dup n.727dup c.2125-144dup (n.2125-144dup) c.2065-144dup (n.2065-144dup) c.2013dup (p.Phe672IlefsTer7) c.987dup (p.Phe330IlefsTer7) c.927dup (p.Phe310IlefsTer7) n.18393-37026dup n.2782dup c.2134-144dup (n.2134-144dup) n.2750dup | ClinVar dbSNP |
| 15 | g.25354570T= | CA3212273441 | SNHG14,UBE3A | c.2178A= (p.Leu726=) c.2238A= (p.Leu746=) c.2247A= (p.Leu749=) c.2061A= (p.Leu687=) n.4934A= c.189A= (p.Leu63=) c.92-144A= n.727A= c.2125-144A= (n.2125-144A=) c.2065-144A= (n.2065-144A=) c.2013A= (p.Leu671=) c.987A= (p.Leu329=) c.927A= (p.Leu309=) n.18393-37026T= n.2782A= c.2134-144A= (n.2134-144A=) n.2750A= | dbSNP dbSNP |