| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166280559C>T | CA16042407 | SCN1A-AS1,SCN9A | c.2141G>A (p.Trp714Ter) c.2108G>A (p.Trp703Ter) c.1143G>A n.1029+3312C>T c.1754G>A (p.Trp585Ter) c.1397G>A (p.Trp466Ter) n.2455G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166280559C= | CA1304965890 | SCN1A-AS1,SCN9A | c.2141G= (p.Trp714=) c.2108G= (p.Trp703=) c.1143G= n.1029+3312C= c.1754G= (p.Trp585=) c.1397G= (p.Trp466=) n.2455G= | dbSNP |