| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11755082C>G | CA212663 | GATA4 | c.946C>G (p.Gln316Glu) c.949C>G (p.Gln317Glu) c.328C>G (p.Gln110Glu) c.943C>G (p.Gln315Glu) c.202C>G (p.Gln68Glu) | ClinVar dbSNP |
| 8 | g.11755082C>T | CA4630766 | GATA4 | c.946C>T (p.Gln316Ter) c.949C>T (p.Gln317Ter) c.328C>T (p.Gln110Ter) c.943C>T (p.Gln315Ter) c.202C>T (p.Gln68Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |