| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166272746C>A | CA147606 | SCN1A-AS1,SCN9A | c.3004G>T (p.Val1002Leu) c.4G>T (p.Val2Leu) c.2971G>T (p.Val991Leu) c.1877-248G>T n.870-4342C>A c.2617G>T (p.Val873Leu) c.2260G>T (p.Val754Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.166272746C>T | CA349074508 | SCN1A-AS1,SCN9A | c.3004G>A (p.Val1002Met) c.4G>A (p.Val2Met) c.2971G>A (p.Val991Met) c.1877-248G>A n.870-4342C>T c.2617G>A (p.Val873Met) c.2260G>A (p.Val754Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |