| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.660487del | CA256719 | PDE6B | c.1488del (p.Thr497ProfsTer?) c.651del (p.Thr218ProfsTer?) c.1707del (p.Thr570ProfsTer?) c.693del (p.Thr232ProfsTer?) c.417del (p.Thr140ProfsTer?) c.333del (p.Thr112ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 4 | g.660487dup | CA549125566 | PDE6B | c.1488dup (p.Thr497HisfsTer4) c.651dup (p.Thr218HisfsTer4) c.1707dup (p.Thr570HisfsTer4) c.693dup (p.Thr232HisfsTer4) c.417dup (p.Thr140HisfsTer4) c.333dup (p.Thr112HisfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |