| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51789396A>C | CA170759 | SCN8A | c.4397A>C (p.Asn1466Thr) c.2461A>C c.4274A>C (p.Asn1425Thr) c.4430A>C (p.Asn1477Thr) | ClinVar dbSNP |
| 12 | g.51789396A>G | CA384908570 | SCN8A | c.4397A>G (p.Asn1466Ser) c.2461A>G c.4274A>G (p.Asn1425Ser) c.4430A>G (p.Asn1477Ser) | ClinVar dbSNP |