| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60823870C>T | CA16618662 | CHD7 | c.3232C>T (p.His1078Tyr) c.1717-38359C>T (n.1717-38359C>T) c.1219C>T (p.His407Tyr) c.769C>T (p.His257Tyr) c.-24C>T (n.-24C>T) | ClinVar dbSNP COSMIC |
| 8 | g.60823870C= | CA1788087293 | CHD7 | c.3232C= (p.His1078=) c.1717-38359C= (n.1717-38359C=) c.1219C= (p.His407=) c.769C= (p.His257=) c.-24C= (n.-24C=) | dbSNP |