| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166204368G>T | CA1943856 | SCN1A-AS1,SCN9A | c.4495C>A (p.Arg1499=) c.4339C>A (p.Arg1447=) c.4462C>A (p.Arg1488=) n.872C>A n.611+4550G>T c.4108C>A (p.Arg1370=) c.3751C>A (p.Arg1251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166204368G>A | CA1943855 | SCN1A-AS1,SCN9A | c.4495C>T (p.Arg1499Ter) c.4339C>T (p.Arg1447Ter) c.4462C>T (p.Arg1488Ter) n.872C>T n.611+4550G>A c.4108C>T (p.Arg1370Ter) c.3751C>T (p.Arg1251Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |