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 |
|---|---|---|---|---|---|
| 19 | g.11107506A>G | CA10585201 | LDLR | c.1190A>G (p.Lys397Arg) c.932A>G (p.Lys311Arg) c.1186A>G c.428A>G (p.Lys143Arg) c.809A>G (p.Lys270Arg) c.551A>G (p.Lys184Arg) n.447A>G c.532A>G n.1082A>G n.1049A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11107506A>C | CA10585200 | LDLR | c.1190A>C (p.Lys397Thr) c.932A>C (p.Lys311Thr) c.1186A>C c.428A>C (p.Lys143Thr) c.809A>C (p.Lys270Thr) c.551A>C (p.Lys184Thr) n.447A>C c.532A>C n.1082A>C n.1049A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107506A= | CA2322768654 | LDLR | c.1190A= (p.Lys397=) c.932A= (p.Lys311=) c.1186A= c.428A= (p.Lys143=) c.809A= (p.Lys270=) c.551A= (p.Lys184=) n.447A= c.532A= n.1082A= n.1049A= | dbSNP |