| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166284506T>A | CA118164 | SCN1A-AS1,SCN9A | c.1921A>T (p.Asn641Tyr) c.956A>T c.1516A>T (p.Asn506Tyr) n.1029+7259T>A c.1534A>T (p.Asn512Tyr) c.1177A>T (p.Asn393Tyr) n.2235A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166284506T= | CA1304967947 | SCN1A-AS1,SCN9A | c.1921A= (p.Asn641=) c.956A= c.1516A= (p.Asn506=) n.1029+7259T= c.1534A= (p.Asn512=) c.1177A= (p.Asn393=) n.2235A= | dbSNP |