| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60830412A>G | CA236298 | CHD7 | c.3613A>G (p.Ile1205Val) c.1717-31817A>G (n.1717-31817A>G) c.1600A>G (p.Ile534Val) c.1150A>G (p.Ile384Val) c.358A>G (p.Ile120Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60830412A= | CA1788100989 | CHD7 | c.3613A= (p.Ile1205=) c.1717-31817A= (n.1717-31817A=) c.1600A= (p.Ile534=) c.1150A= (p.Ile384=) c.358A= (p.Ile120=) | dbSNP |