| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.118137097G>T | CA382776618 | SCN4B | c.617C>A (p.Ser206Ter) n.760C>A n.251C>A c.215C>A (p.Ser72Ter) n.682C>A c.287C>A (p.Ser96Ter) n.642C>A n.606C>A | dbSNP |
| 11 | g.118137097G>A | CA199796 | SCN4B | c.617C>T (p.Ser206Leu) n.760C>T n.251C>T c.215C>T (p.Ser72Leu) n.682C>T c.287C>T (p.Ser96Leu) n.642C>T n.606C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |