| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806378T>A | CA384880452 | SCN8A | c.4892T>A (p.Ile1631Asn) c.2956T>A c.4769T>A (p.Ile1590Asn) c.4925T>A (p.Ile1642Asn) | ClinVar dbSNP |
| 12 | g.51806378T>C | CA384880453 | SCN8A | c.4892T>C (p.Ile1631Thr) c.2956T>C c.4769T>C (p.Ile1590Thr) c.4925T>C (p.Ile1642Thr) | ClinVar dbSNP |
| 12 | g.51806378T= | CA2036192947 | SCN8A | c.4892T= (p.Ile1631=) c.2956T= c.4769T= (p.Ile1590=) c.4925T= (p.Ile1642=) | dbSNP |