| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11750166C>G | CA370313012 | GATA4 | c.839C>G (p.Thr280Arg) c.842C>G (p.Thr281Arg) c.221C>G (p.Thr74Arg) c.836C>G (p.Thr279Arg) c.165+1081C>G (n.165+1081C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750166C>T | CA212675 | GATA4 | c.839C>T (p.Thr280Met) c.842C>T (p.Thr281Met) c.221C>T (p.Thr74Met) c.836C>T (p.Thr279Met) c.165+1081C>T (n.165+1081C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11750166C= | CA1764081173 | GATA4 | c.839C= (p.Thr280=) c.842C= (p.Thr281=) c.221C= (p.Thr74=) c.836C= (p.Thr279=) c.165+1081C= (n.165+1081C=) | dbSNP |