| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60838229G>T | CA16618670 | CHD7 | c.4507G>T (p.Glu1503Ter) c.1717-24000G>T (n.1717-24000G>T) c.2494G>T (p.Glu832Ter) c.2044G>T (p.Glu682Ter) c.1252G>T (p.Glu418Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60838229G= | CA1788116319 | CHD7 | c.4507G= (p.Glu1503=) c.1717-24000G= (n.1717-24000G=) c.2494G= (p.Glu832=) c.2044G= (p.Glu682=) c.1252G= (p.Glu418=) | dbSNP |