| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166288566G>A | CA429905400 | SCN1A-AS1,SCN9A | c.1185C>T (p.Asn395=) c.220C>T c.780C>T (p.Asn260=) n.1030-5999G>A c.798C>T (p.Asn266=) c.441C>T (p.Asn147=) n.1499C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.166288566G>C | CA10584167 | SCN1A-AS1,SCN9A | c.1185C>G (p.Asn395Lys) c.220C>G c.780C>G (p.Asn260Lys) n.1030-5999G>C c.798C>G (p.Asn266Lys) c.441C>G (p.Asn147Lys) n.1499C>G | ClinVar dbSNP |
| 2 | g.166288566G>T | CA341930 | SCN1A-AS1,SCN9A | c.1185C>A (p.Asn395Lys) c.220C>A c.780C>A (p.Asn260Lys) n.1030-5999G>T c.798C>A (p.Asn266Lys) c.441C>A (p.Asn147Lys) n.1499C>A | ClinVar dbSNP |