| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60742555C>T | CA16605398 | CHD7 | n.1636C>T c.1123C>T (p.Gln375Ter) c.32-265C>T | ClinVar dbSNP |
| 8 | g.60742555C= | CA1788097237 | CHD7 | n.1636C= c.1123C= (p.Gln375=) c.32-265C= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60742555C>T | CA16605398 | CHD7 | n.1636C>T c.1123C>T (p.Gln375Ter) c.32-265C>T | ClinVar dbSNP |
| 8 | g.60742555C= | CA1788097237 | CHD7 | n.1636C= c.1123C= (p.Gln375=) c.32-265C= | dbSNP |