| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60844998del | CA16609829 | CHD7 | c.4985del (p.Ser1662ThrfsTer6) c.1717-17231del (n.1717-17231del) c.2972del (p.Ser991ThrfsTer6) c.2522del (p.Ser841ThrfsTer6) c.1730del (p.Ser577ThrfsTer6) | ClinVar dbSNP |
| 8 | g.60844998G= | CA3156712757 | CHD7 | c.4985G= (p.Ser1662=) c.1717-17231G= (n.1717-17231G=) c.2972G= (p.Ser991=) c.2522G= (p.Ser841=) c.1730G= (p.Ser577=) | dbSNP dbSNP |