| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51745907C>T | CA6571404 | SCN8A | c.2003C>T (p.Thr668Ile) c.7C>T n.2131C>T c.1586C>T (p.Thr529Ile) c.2036C>T (p.Thr679Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51745907C= | CA2036190149 | SCN8A | c.2003C= (p.Thr668=) c.7C= n.2131C= c.1586C= (p.Thr529=) c.2036C= (p.Thr679=) | dbSNP |
| 12 | g.51745907C>A | CA384878211 | SCN8A | c.2003C>A (p.Thr668Lys) c.7C>A n.2131C>A c.1586C>A (p.Thr529Lys) c.2036C>A (p.Thr679Lys) | dbSNP gnomAD v4 |