| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166284560C>T | CA129152 | SCN1A-AS1,SCN9A | c.1867G>A (p.Asp623Asn) c.902G>A c.1462G>A (p.Asp488Asn) n.1029+7313C>T c.1480G>A (p.Asp494Asn) c.1123G>A (p.Asp375Asn) n.2181G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.166284560C>G | CA59799365 | SCN1A-AS1,SCN9A | c.1867G>C (p.Asp623His) c.902G>C c.1462G>C (p.Asp488His) n.1029+7313C>G c.1480G>C (p.Asp494His) c.1123G>C (p.Asp375His) n.2181G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166284560C= | CA1304967980 | SCN1A-AS1,SCN9A | c.1867G= (p.Asp623=) c.902G= c.1462G= (p.Asp488=) n.1029+7313C= c.1480G= (p.Asp494=) c.1123G= (p.Asp375=) n.2181G= | dbSNP |