| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.50809588C>A | CA384828154 | ATF1 | c.327C>A (p.Tyr109Ter) c.94-4422C>A (n.94-4422C>A) c.45C>A (p.Tyr15Ter) c.351C>A (p.Tyr117Ter) | dbSNP |
| 12 | g.50809588C>T | CA6565573 | ATF1 | c.327C>T (p.Tyr109=) c.94-4422C>T (n.94-4422C>T) c.45C>T (p.Tyr15=) c.351C>T (p.Tyr117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |