| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51769464A>T | CA2036188887 | SCN8A | c.3372+129A>T (n.3372+129A>T) c.1219+129A>T c.1436+129A>T c.3405+129A>T (n.3405+129A>T) n.364+129A>T | dbSNP |
| 12 | g.51769464A>G | CA236318797 | SCN8A | c.3372+129A>G (n.3372+129A>G) c.1219+129A>G c.1436+129A>G c.3405+129A>G (n.3405+129A>G) n.364+129A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |