| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8123096G>A | CA129403 | HES7 | c.73C>T (p.Arg25Trp) c.49C>T (p.Arg17Trp) c.178C>T (p.Arg60Trp) c.169C>T (p.Arg57Trp) c.160C>T (p.Arg54Trp) c.31C>T (p.Arg11Trp) n.69+3282G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.8123096G= | CA2246162739 | HES7 | c.73C= (p.Arg25=) c.49C= (p.Arg17=) c.178C= (p.Arg60=) c.169C= (p.Arg57=) c.160C= (p.Arg54=) c.31C= (p.Arg11=) n.69+3282G= | dbSNP |