| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166278156A>C | CA341933 | SCN1A-AS1,SCN9A | c.2501T>G (p.Leu834Arg) c.2468T>G (p.Leu823Arg) c.158T>G (p.Leu53Arg) c.1503T>G n.1029+909A>C c.2114T>G (p.Leu705Arg) c.1757T>G (p.Leu586Arg) n.2815T>G | ClinVar dbSNP |
| 2 | g.166278156A>G | CA349078198 | SCN1A-AS1,SCN9A | c.2501T>C (p.Leu834Pro) c.2468T>C (p.Leu823Pro) c.158T>C (p.Leu53Pro) c.1503T>C n.1029+909A>G c.2114T>C (p.Leu705Pro) c.1757T>C (p.Leu586Pro) n.2815T>C | dbSNP gnomAD v2 |