| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51807092T>C | CA16619566 | SCN8A | c.5606T>C (p.Met1869Thr) c.5483T>C (p.Met1828Thr) c.5639T>C (p.Met1880Thr) | ClinVar dbSNP |
| 12 | g.51807092T= | CA2036194479 | SCN8A | c.5606T= (p.Met1869=) c.5483T= (p.Met1828=) c.5639T= (p.Met1880=) | dbSNP |