| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60841989A>G | CA16605404 | CHD7 | c.4787A>G (p.Asp1596Gly) c.1717-20240A>G (n.1717-20240A>G) c.2774A>G (p.Asp925Gly) c.2324A>G (p.Asp775Gly) c.1532A>G (p.Asp511Gly) | ClinVar dbSNP |
| 8 | g.60841989A>T | CA371319496 | CHD7 | c.4787A>T (p.Asp1596Val) c.1717-20240A>T (n.1717-20240A>T) c.2774A>T (p.Asp925Val) c.2324A>T (p.Asp775Val) c.1532A>T (p.Asp511Val) | ClinVar dbSNP |
| 8 | g.60841989A= | CA1788123169 | CHD7 | c.4787A= (p.Asp1596=) c.1717-20240A= (n.1717-20240A=) c.2774A= (p.Asp925=) c.2324A= (p.Asp775=) c.1532A= (p.Asp511=) | dbSNP |