| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11756974C>T | CA212670 | GATA4 | c.1037C>T (p.Ala346Val) c.1040C>T (p.Ala347Val) n.482C>T c.419C>T (p.Ala140Val) c.1034C>T (p.Ala345Val) c.293C>T (p.Ala98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11756974C= | CA1764072385 | GATA4 | c.1037C= (p.Ala346=) c.1040C= (p.Ala347=) n.482C= c.419C= (p.Ala140=) c.1034C= (p.Ala345=) c.293C= (p.Ala98=) | dbSNP |