| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166280508A>G | CA349079761 | SCN1A-AS1,SCN9A | c.2192T>C (p.Ile731Thr) c.2159T>C (p.Ile720Thr) c.1194T>C n.1029+3261A>G c.1805T>C (p.Ile602Thr) c.1448T>C (p.Ile483Thr) n.2506T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166280508A>T | CA129149 | SCN1A-AS1,SCN9A | c.2192T>A (p.Ile731Lys) c.2159T>A (p.Ile720Lys) c.1194T>A n.1029+3261A>T c.1805T>A (p.Ile602Lys) c.1448T>A (p.Ile483Lys) n.2506T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |