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 |
|---|---|---|---|---|---|
| 8 | g.71215630A>G | CA254274 | EYA1 | c.1459T>C (p.Ser487Pro) c.1357T>C (p.Ser453Pro) c.1354T>C (p.Ser452Pro) c.*738T>C (n.*738T>C) c.849T>C n.1922T>C c.*1136T>C (n.*1136T>C) c.1546T>C (p.Ser516Pro) c.1441T>C (p.Ser481Pro) n.529T>C c.1438T>C (p.Ser480Pro) c.1360T>C (p.Ser454Pro) c.1456T>C (p.Ser486Pro) c.*404T>C (n.*404T>C) n.1954T>C c.1093T>C (p.Ser365Pro) c.1531T>C (p.Ser511Pro) c.1444T>C (p.Ser482Pro) c.1396T>C (p.Ser466Pro) c.1108T>C (p.Ser370Pro) c.1543T>C (p.Ser515Pro) c.1528T>C (p.Ser510Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71215630A= | CA1792691784 | EYA1 | c.1459T= (p.Ser487=) c.1357T= (p.Ser453=) c.1354T= (p.Ser452=) c.*738T= (n.*738T=) c.849T= n.1922T= c.*1136T= (n.*1136T=) c.1546T= (p.Ser516=) c.1441T= (p.Ser481=) n.529T= c.1438T= (p.Ser480=) c.1360T= (p.Ser454=) c.1456T= (p.Ser486=) c.*404T= (n.*404T=) n.1954T= c.1093T= (p.Ser365=) c.1531T= (p.Ser511=) c.1444T= (p.Ser482=) c.1396T= (p.Ser466=) c.1108T= (p.Ser370=) c.1543T= (p.Ser515=) c.1528T= (p.Ser510=) | dbSNP |