| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.123642502G>T | CA229983987 | SCN3B | c.389C>A (p.Ala130Glu) c.85C>A n.796C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.123642502G>A | CA163437 | SCN3B | c.389C>T (p.Ala130Val) c.85C>T n.796C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.123642502G= | CA2005869813 | SCN3B | c.389C= (p.Ala130=) c.85C= n.796C= | dbSNP |