| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51807116A>G | CA289040 | SCN8A | c.5630A>G (p.Asn1877Ser) c.5507A>G (p.Asn1836Ser) c.5663A>G (p.Asn1888Ser) | ClinVar dbSNP |
| 12 | g.51807116A= | CA2036194651 | SCN8A | c.5630A= (p.Asn1877=) c.5507A= (p.Asn1836=) c.5663A= (p.Asn1888=) | dbSNP |