| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11758409C>T | CA347948 | GATA4 | c.1263C>T (p.Ser421=) c.1266C>T (p.Ser422=) n.708C>T c.645C>T (p.Ser215=) c.1260C>T (p.Ser420=) c.519C>T (p.Ser173=) | ClinVar dbSNP |
| 8 | g.11758409C>A | CA370315758 | GATA4 | c.1263C>A (p.Ser421Arg) c.1266C>A (p.Ser422Arg) n.708C>A c.645C>A (p.Ser215Arg) c.1260C>A (p.Ser420Arg) c.519C>A (p.Ser173Arg) | dbSNP |