| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11708695A>G | CA370309507 | GATA4 | c.383A>G (p.Glu128Gly) c.-6+4391A>G (n.-6+4391A>G) c.-6+7917A>G (n.-6+7917A>G) c.380A>G (p.Glu127Gly) c.-3+4391A>G (n.-3+4391A>G) c.-3+681A>G (n.-3+681A>G) | dbSNP gnomAD v4 |
| 8 | g.11708695A>T | CA347958 | GATA4 | c.383A>T (p.Glu128Val) c.-6+4391A>T (n.-6+4391A>T) c.-6+7917A>T (n.-6+7917A>T) c.380A>T (p.Glu127Val) c.-3+4391A>T (n.-3+4391A>T) c.-3+681A>T (n.-3+681A>T) | ClinVar dbSNP |