| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277133C>T | CA118137 | SCN1A-AS1,SCN9A | c.2724G>A (p.Trp908Ter) c.2691G>A (p.Trp897Ter) c.381G>A (p.Trp127Ter) c.1726G>A n.915C>T c.2337G>A (p.Trp779Ter) c.1980G>A (p.Trp660Ter) n.3038G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.166277133C= | CA1304964942 | SCN1A-AS1,SCN9A | c.2724G= (p.Trp908=) c.2691G= (p.Trp897=) c.381G= (p.Trp127=) c.1726G= n.915C= c.2337G= (p.Trp779=) c.1980G= (p.Trp660=) n.3038G= | dbSNP |