| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60742984C>T | CA16044358 | CHD7 | n.2065C>T c.1552C>T (p.Gln518Ter) c.196C>T | ClinVar dbSNP |
| 8 | g.60742984C= | CA1788085316 | CHD7 | n.2065C= c.1552C= (p.Gln518=) c.196C= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60742984C>T | CA16044358 | CHD7 | n.2065C>T c.1552C>T (p.Gln518Ter) c.196C>T | ClinVar dbSNP |
| 8 | g.60742984C= | CA1788085316 | CHD7 | n.2065C= c.1552C= (p.Gln518=) c.196C= | dbSNP |