| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51807041C>T | CA318298 | SCN8A | c.5555C>T (p.Thr1852Ile) c.5432C>T (p.Thr1811Ile) c.5588C>T (p.Thr1863Ile) | ClinVar dbSNP |
| 12 | g.51807041C= | CA2036194289 | SCN8A | c.5555C= (p.Thr1852=) c.5432C= (p.Thr1811=) c.5588C= (p.Thr1863=) | dbSNP |