| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.15627391G>A | CA340087 | DTNBP1 | c.307C>T (p.Gln103Ter) c.256C>T (p.Gln86Ter) c.*305C>T (n.*305C>T) c.*217C>T (n.*217C>T) c.202C>T (p.Gln68Ter) c.64C>T (p.Gln22Ter) n.635C>T c.268C>T (p.Gln90Ter) c.217C>T (p.Gln73Ter) n.605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.15627391G= | CA1612384602 | DTNBP1 | c.307C= (p.Gln103=) c.256C= (p.Gln86=) c.*305C= (n.*305C=) c.*217C= (n.*217C=) c.202C= (p.Gln68=) c.64C= (p.Gln22=) n.635C= c.268C= (p.Gln90=) c.217C= (p.Gln73=) n.605C= | dbSNP |