| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35033545G>A | CA144661 | SCN1B | c.254G>A (p.Arg85His) c.155G>A (p.Arg52His) c.208-167G>A (n.208-167G>A) n.263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35033545G= | CA2333466988 | SCN1B | c.254G= (p.Arg85=) c.155G= (p.Arg52=) c.208-167G= (n.208-167G=) n.263G= | dbSNP dbSNP |