| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60853047G>A | CA252062 | CHD7 | c.6322G>A (p.Gly2108Arg) c.1717-9182G>A (n.1717-9182G>A) c.6412G>A (p.Gly2138Arg) c.4399G>A (p.Gly1467Arg) c.3949G>A (p.Gly1317Arg) c.3157G>A (p.Gly1053Arg) | ClinVar dbSNP |
| 8 | g.60853047G= | CA1788103472 | CHD7 | c.6322G= (p.Gly2108=) c.1717-9182G= (n.1717-9182G=) c.6412G= (p.Gly2138=) c.4399G= (p.Gly1467=) c.3949G= (p.Gly1317=) c.3157G= (p.Gly1053=) | dbSNP |