| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51789402A>G | CA16043682 | SCN8A | c.4403A>G (p.Asn1468Ser) c.2467A>G c.4280A>G (p.Asn1427Ser) c.4436A>G (p.Asn1479Ser) | ClinVar dbSNP dbSNP gnomAD v4 |
| 12 | g.51789402A= | CA2036172296 | SCN8A | c.4403A= (p.Asn1468=) c.2467A= c.4280A= (p.Asn1427=) c.4436A= (p.Asn1479=) | dbSNP |