| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11757066A>G | CA133993 | GATA4 | c.1129A>G (p.Ser377Gly) c.1132A>G (p.Ser378Gly) n.574A>G c.511A>G (p.Ser171Gly) c.1126A>G (p.Ser376Gly) c.385A>G (p.Ser129Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11757066A= | CA1764072560 | GATA4 | c.1129A= (p.Ser377=) c.1132A= (p.Ser378=) n.574A= c.511A= (p.Ser171=) c.1126A= (p.Ser376=) c.385A= (p.Ser129=) | dbSNP |