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 |
|---|---|---|---|---|---|
| 13 | g.23339837del | CA16041640 | SACS | c.2185+13948del (n.2185+13948del) c.4066del (p.Leu1356SerfsTer14) c.4030del (p.Leu1344SerfsTer14) c.2177-10353del (n.2177-10353del) c.2291+1748del (n.2291+1748del) c.2318+1748del (n.2318+1748del) c.2203+6974del (n.2203+6974del) n.4543-10353del c.2220+6974del (n.2220+6974del) c.4039del (p.Leu1347SerfsTer14) c.2186-10353del (n.2186-10353del) c.2431+1608del (n.2431+1608del) c.1789del (p.Leu597SerfsTer14) c.1058-10353del (n.1058-10353del) c.2129+1608del c.3598del (p.Leu1200SerfsTer14) c.4090del (p.Leu1364SerfsTer14) c.4057del (p.Leu1353SerfsTer14) | ClinVar dbSNP |
| 13 | g.23339837G= | CA3200933537 | SACS | c.2185+13948C= (n.2185+13948C=) c.4066C= (p.Leu1356=) c.4030C= (p.Leu1344=) c.2177-10353C= (n.2177-10353C=) c.2291+1748C= (n.2291+1748C=) c.2318+1748C= (n.2318+1748C=) c.2203+6974C= (n.2203+6974C=) n.4543-10353C= c.2220+6974C= (n.2220+6974C=) c.4039C= (p.Leu1347=) c.2186-10353C= (n.2186-10353C=) c.2431+1608C= (n.2431+1608C=) c.1789C= (p.Leu597=) c.1058-10353C= (n.1058-10353C=) c.2129+1608C= c.3598C= (p.Leu1200=) c.4090C= (p.Leu1364=) c.4057C= (p.Leu1353=) | dbSNP |