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 |
|---|---|---|---|---|---|
| 17 | g.50168499C>T | CA16041850 | SGCA | c.511C>T (p.Gln171Ter) n.236C>T c.502C>T (n.502C>T) c.391C>T (p.Gln131Ter) n.221C>T c.*170C>T (n.*170C>T) c.232C>T (p.Gln78Ter) c.346C>T n.302C>T c.*217C>T (n.*217C>T) c.205C>T (p.Gln69Ter) n.577C>T n.567C>T c.673C>T (p.Gln225Ter) n.1029C>T n.547C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.50168499C>A | CA400180022 | SGCA | c.511C>A (p.Gln171Lys) n.236C>A c.502C>A (n.502C>A) c.391C>A (p.Gln131Lys) n.221C>A c.*170C>A (n.*170C>A) c.232C>A (p.Gln78Lys) c.346C>A n.302C>A c.*217C>A (n.*217C>A) c.205C>A (p.Gln69Lys) n.577C>A n.567C>A c.673C>A (p.Gln225Lys) n.1029C>A n.547C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.50168499C= | CA2263905679 | SGCA | c.511C= (p.Gln171=) n.236C= c.502C= (n.502C=) c.391C= (p.Gln131=) n.221C= c.*170C= (n.*170C=) c.232C= (p.Gln78=) c.346C= n.302C= c.*217C= (n.*217C=) c.205C= (p.Gln69=) n.577C= n.567C= c.673C= (p.Gln225=) n.1029C= n.547C= | dbSNP |