| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277138G>A | CA1944214 | SCN1A-AS1,SCN9A | c.2719C>T (p.Arg907Trp) c.2686C>T (p.Arg896Trp) c.376C>T (p.Arg126Trp) c.1721C>T n.920G>A c.2332C>T (p.Arg778Trp) c.1975C>T (p.Arg659Trp) n.3033C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166277138G= | CA1304964971 | SCN1A-AS1,SCN9A | c.2719C= (p.Arg907=) c.2686C= (p.Arg896=) c.376C= (p.Arg126=) c.1721C= n.920G= c.2332C= (p.Arg778=) c.1975C= (p.Arg659=) n.3033C= | dbSNP |