| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166280452T>C | CA171007 | SCN1A-AS1,SCN9A | c.2248A>G (p.Ile750Val) c.2215A>G (p.Ile739Val) c.1250A>G n.1029+3205T>C c.1861A>G (p.Ile621Val) c.1504A>G (p.Ile502Val) n.2562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166280452T= | CA1304965726 | SCN1A-AS1,SCN9A | c.2248A= (p.Ile750=) c.2215A= (p.Ile739=) c.1250A= n.1029+3205T= c.1861A= (p.Ile621=) c.1504A= (p.Ile502=) n.2562A= | dbSNP |