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 |
|---|---|---|---|---|---|
| 7 | g.139911233T>C | CA121728 | TBXAS1 | c.245T>C (p.Leu82Pro) c.*100T>C (n.*100T>C) c.*34T>C (n.*34T>C) c.248T>C (p.Leu83Pro) c.44T>C (p.Leu15Pro) n.216T>C n.357-24958T>C c.188T>C (p.Leu63Pro) c.-4294966784T>C c.151-24958T>C (n.151-24958T>C) c.-11T>C (n.-11T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.139911233T>G | CA369583287 | TBXAS1 | c.245T>G (p.Leu82Arg) c.*100T>G (n.*100T>G) c.*34T>G (n.*34T>G) c.248T>G (p.Leu83Arg) c.44T>G (p.Leu15Arg) n.216T>G n.357-24958T>G c.188T>G (p.Leu63Arg) c.-4294966784T>G c.151-24958T>G (n.151-24958T>G) c.-11T>G (n.-11T>G) | dbSNP |
| 7 | g.139911233T= | CA1747318425 | TBXAS1 | c.245T= (p.Leu82=) c.*100T= (n.*100T=) c.*34T= (n.*34T=) c.248T= (p.Leu83=) c.44T= (p.Leu15=) n.216T= n.357-24958T= c.188T= (p.Leu63=) c.-4294966784T= c.151-24958T= (n.151-24958T=) c.-11T= (n.-11T=) | dbSNP |