| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11757012G>T | CA370315370 | GATA4 | c.1075G>T (p.Glu359Ter) c.1078G>T (p.Glu360Ter) n.520G>T c.457G>T (p.Glu153Ter) c.1072G>T (p.Glu358Ter) c.331G>T (p.Glu111Ter) | ClinVar dbSNP |
| 8 | g.11757012G>A | CA212671 | GATA4 | c.1075G>A (p.Glu359Lys) c.1078G>A (p.Glu360Lys) n.520G>A c.457G>A (p.Glu153Lys) c.1072G>A (p.Glu358Lys) c.331G>A (p.Glu111Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11757012G= | CA1764072470 | GATA4 | c.1075G= (p.Glu359=) c.1078G= (p.Glu360=) n.520G= c.457G= (p.Glu153=) c.1072G= (p.Glu358=) c.331G= (p.Glu111=) | dbSNP dbSNP |