| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277137C>T | CA59794605 | SCN1A-AS1,SCN9A | c.2720G>A (p.Arg907Gln) c.2687G>A (p.Arg896Gln) c.377G>A (p.Arg126Gln) c.1722G>A n.919C>T c.2333G>A (p.Arg778Gln) c.1976G>A (p.Arg659Gln) n.3034G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277137C= | CA1304964965 | SCN1A-AS1,SCN9A | c.2720G= (p.Arg907=) c.2687G= (p.Arg896=) c.377G= (p.Arg126=) c.1722G= n.919C= c.2333G= (p.Arg778=) c.1976G= (p.Arg659=) n.3034G= | dbSNP |