| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166272731G>A | CA118140 | SCN1A-AS1,SCN9A | c.3019C>T (p.Arg1007Cys) c.19C>T (p.Arg7Cys) c.2986C>T (p.Arg996Cys) c.1877-233C>T n.870-4357G>A c.2632C>T (p.Arg878Cys) c.2275C>T (p.Arg759Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166272731G>C | CA1944154 | SCN1A-AS1,SCN9A | c.3019C>G (p.Arg1007Gly) c.19C>G (p.Arg7Gly) c.2986C>G (p.Arg996Gly) c.1877-233C>G n.870-4357G>C c.2632C>G (p.Arg878Gly) c.2275C>G (p.Arg759Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |