| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.60816389C>T | CA130114 | CHD7 | c.2501C>T (p.Ser834Phe) c.1716+35339C>T (n.1716+35339C>T) c.488C>T (p.Ser163Phe) c.38C>T (p.Ser13Phe) | ClinVar dbSNP |
| 8 | g.60816389C= | CA1788137373 | CHD7 | c.2501C= (p.Ser834=) c.1716+35339C= (n.1716+35339C=) c.488C= (p.Ser163=) c.38C= (p.Ser13=) | dbSNP |