| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60853482G>T | CA16042735 | CHD7 | c.6757G>T (p.Glu2253Ter) c.1717-8747G>T (n.1717-8747G>T) c.6847G>T (p.Glu2283Ter) c.4834G>T (p.Glu1612Ter) c.4384G>T (p.Glu1462Ter) c.3592G>T (p.Glu1198Ter) | ClinVar dbSNP |
| 8 | g.60853482G= | CA1788105360 | CHD7 | c.6757G= (p.Glu2253=) c.1717-8747G= (n.1717-8747G=) c.6847G= (p.Glu2283=) c.4834G= (p.Glu1612=) c.4384G= (p.Glu1462=) c.3592G= (p.Glu1198=) | dbSNP |