| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.660590C>T | CA256717 | PDE6B | c.1591C>T (p.Arg531Ter) c.754C>T (p.Arg252Ter) c.1810C>T (p.Arg604Ter) c.796C>T (p.Arg266Ter) c.520C>T (p.Arg174Ter) c.436C>T (p.Arg146Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.660590C>G | CA2794584 | PDE6B | c.1591C>G (p.Arg531Gly) c.754C>G (p.Arg252Gly) c.1810C>G (p.Arg604Gly) c.796C>G (p.Arg266Gly) c.520C>G (p.Arg174Gly) c.436C>G (p.Arg146Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.660590C= | CA1432855438 | PDE6B | c.1591C= (p.Arg531=) c.754C= (p.Arg252=) c.1810C= (p.Arg604=) c.796C= (p.Arg266=) c.520C= (p.Arg174=) c.436C= (p.Arg146=) | dbSNP |