| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277252G>A | CA340554 | SCN1A-AS1,SCN9A | c.2605C>T (p.Leu869Phe) c.2572C>T (p.Leu858Phe) c.262C>T (p.Leu88Phe) c.1607C>T n.1029+5G>A c.2218C>T (p.Leu740Phe) c.1861C>T (p.Leu621Phe) n.2919C>T | ClinVar dbSNP |
| 2 | g.166277252G= | CA1304965368 | SCN1A-AS1,SCN9A | c.2605C= (p.Leu869=) c.2572C= (p.Leu858=) c.262C= (p.Leu88=) c.1607C= n.1029+5G= c.2218C= (p.Leu740=) c.1861C= (p.Leu621=) n.2919C= | dbSNP |