| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166199247C>G | CA1943685 | SCN1A-AS1,SCN9A | c.5392G>C (p.Glu1798Gln) c.5236G>C (p.Glu1746Gln) c.5359G>C (p.Glu1787Gln) n.1769G>C n.432-392C>G c.5005G>C (p.Glu1669Gln) c.4648G>C (p.Glu1550Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.166199247C>A | CA10584158 | SCN1A-AS1,SCN9A | c.5392G>T (p.Glu1798Ter) c.5236G>T (p.Glu1746Ter) c.5359G>T (p.Glu1787Ter) n.1769G>T n.432-392C>A c.5005G>T (p.Glu1669Ter) c.4648G>T (p.Glu1550Ter) | ClinVar dbSNP |