| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11758419G>A | CA204708 | GATA4 | c.1273G>A (p.Asp425Asn) c.1276G>A (p.Asp426Asn) n.718G>A c.655G>A (p.Asp219Asn) c.1270G>A (p.Asp424Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758419G>T | CA172121496 | GATA4 | c.1273G>T (p.Asp425Tyr) c.1276G>T (p.Asp426Tyr) n.718G>T c.655G>T (p.Asp219Tyr) c.1270G>T (p.Asp424Tyr) c.529G>T (p.Asp177Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758419G= | CA1764074306 | GATA4 | c.1273G= (p.Asp425=) c.1276G= (p.Asp426=) n.718G= c.655G= (p.Asp219=) c.1270G= (p.Asp424=) c.529G= (p.Asp177=) | dbSNP |