| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277251A>T | CA340542 | SCN1A-AS1,SCN9A | c.2606T>A (p.Leu869His) c.2573T>A (p.Leu858His) c.263T>A (p.Leu88His) c.1608T>A n.1029+4A>T c.2219T>A (p.Leu740His) c.1862T>A (p.Leu621His) n.2920T>A | ClinVar dbSNP |
| 2 | g.166277251A= | CA1304965354 | SCN1A-AS1,SCN9A | c.2606T= (p.Leu869=) c.2573T= (p.Leu858=) c.263T= (p.Leu88=) c.1608T= n.1029+4A= c.2219T= (p.Leu740=) c.1862T= (p.Leu621=) n.2920T= | dbSNP |