| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60845380C>G | CA223306 | CHD7 | c.5181C>G (p.Tyr1727Ter) c.1717-16849C>G (n.1717-16849C>G) c.3168C>G (p.Tyr1056Ter) c.2718C>G (p.Tyr906Ter) c.1926C>G (p.Tyr642Ter) | ClinVar dbSNP |
| 8 | g.60845380C>T | CA4760271 | CHD7 | c.5181C>T (p.Tyr1727=) c.1717-16849C>T (n.1717-16849C>T) c.3168C>T (p.Tyr1056=) c.2718C>T (p.Tyr906=) c.1926C>T (p.Tyr642=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60845380C= | CA1788128958 | CHD7 | c.5181C= (p.Tyr1727=) c.1717-16849C= (n.1717-16849C=) c.3168C= (p.Tyr1056=) c.2718C= (p.Tyr906=) c.1926C= (p.Tyr642=) | dbSNP |