| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51706525A>C | CA385228812 | SCN8A | c.1445A>C (p.Lys482Thr) n.1573A>C c.995A>C (p.Lys332Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51706525A>G | CA6571262 | SCN8A | c.1445A>G (p.Lys482Arg) n.1573A>G c.995A>G (p.Lys332Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51706525A= | CA2036166756 | SCN8A | c.1445A= (p.Lys482=) n.1573A= c.995A= (p.Lys332=) | dbSNP |