| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11750213G>C | CA212673 | GATA4 | c.886G>C (p.Gly296Arg) c.889G>C (p.Gly297Arg) c.268G>C (p.Gly90Arg) c.883G>C (p.Gly295Arg) c.165+1128G>C (n.165+1128G>C) | ClinVar dbSNP |
| 8 | g.11750213G>A | CA212661 | GATA4 | c.886G>A (p.Gly296Ser) c.889G>A (p.Gly297Ser) c.268G>A (p.Gly90Ser) c.883G>A (p.Gly295Ser) c.165+1128G>A (n.165+1128G>A) | ClinVar dbSNP |
| 8 | g.11750213G>T | CA212668 | GATA4 | c.886G>T (p.Gly296Cys) c.889G>T (p.Gly297Cys) c.268G>T (p.Gly90Cys) c.883G>T (p.Gly295Cys) c.165+1128G>T (n.165+1128G>T) | ClinVar dbSNP |