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 |
|---|---|---|---|---|---|
| 2 | g.166228969C>T | CA349064811 | SCN1A-AS1,SCN9A | c.3928G>A (p.Val1310Ile) c.3772G>A (p.Val1258Ile) c.3895G>A (p.Val1299Ile) n.612-19226C>T c.3541G>A (p.Val1181Ile) c.3184G>A (p.Val1062Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166228969C>A | CA118149 | SCN1A-AS1,SCN9A | c.3928G>T (p.Val1310Phe) c.3772G>T (p.Val1258Phe) c.3895G>T (p.Val1299Phe) n.612-19226C>A c.3541G>T (p.Val1181Phe) c.3184G>T (p.Val1062Phe) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166228969C>G | CA349064809 | SCN1A-AS1,SCN9A | c.3928G>C (p.Val1310Leu) c.3772G>C (p.Val1258Leu) c.3895G>C (p.Val1299Leu) n.612-19226C>G c.3541G>C (p.Val1181Leu) c.3184G>C (p.Val1062Leu) | dbSNP gnomAD v4 |
| 2 | g.166228969C= | CA1304943722 | SCN1A-AS1,SCN9A | c.3928G= (p.Val1310=) c.3772G= (p.Val1258=) c.3895G= (p.Val1299=) n.612-19226C= c.3541G= (p.Val1181=) c.3184G= (p.Val1062=) | dbSNP |