| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165389078A>C | CA16617274 | SCN2A | c.5272A>C (p.Ser1758Arg) c.*3591A>C (n.*3591A>C) c.*3259A>C (n.*3259A>C) c.*5795A>C (n.*5795A>C) c.*3214A>C (n.*3214A>C) c.4876A>C (p.Ser1626Arg) n.8703A>C c.5242A>C (p.Ser1748Arg) c.4519A>C (p.Ser1507Arg) c.3070A>C (p.Ser1024Arg) | ClinVar dbSNP |
| 2 | g.165389078A>G | CA349038593 | SCN2A | c.5272A>G (p.Ser1758Gly) c.*3591A>G (n.*3591A>G) c.*3259A>G (n.*3259A>G) c.*5795A>G (n.*5795A>G) c.*3214A>G (n.*3214A>G) c.4876A>G (p.Ser1626Gly) n.8703A>G c.5242A>G (p.Ser1748Gly) c.4519A>G (p.Ser1507Gly) c.3070A>G (p.Ser1024Gly) | dbSNP gnomAD v4 |