| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.93626667del | CA2574631800 | PDE6C | c.967del (p.Tyr323ThrfsTer11) | |
| 10 | g.93626667T>A | CA119899 | PDE6C | c.967T>A (p.Tyr323Asn) | ClinVar dbSNP |
| 10 | g.93626667T>C | CA377631623 | PDE6C | c.967T>C (p.Tyr323His) | |
| 10 | g.93626667T>G | CA377631624 | PDE6C | c.967T>G (p.Tyr323Asp) | |
| 10 | g.93626667T= | CA1928706313 | PDE6C | c.967T= (p.Tyr323=) | |
| 10 | g.93626668del | CA2574631802 | PDE6C | c.968del (p.Tyr323SerfsTer11) | |
| 10 | g.93626668A>C | CA377631628 | PDE6C | c.968A>C (p.Tyr323Ser) | gnomAD v4 |
| 10 | g.93626668A>G | CA377631629 | PDE6C | c.968A>G (p.Tyr323Cys) | |
| 10 | g.93626668A>T | CA377631631 | PDE6C | c.968A>T (p.Tyr323Phe) | gnomAD v4 |
| 10 | g.93626669C>A | CA377631633 | PDE6C | c.969C>A (p.Tyr323Ter) | |
| 10 | g.93626669C>G | CA377631634 | PDE6C | c.969C>G (p.Tyr323Ter) | |
| 10 | g.93626669C>T | CA470795946 | PDE6C | c.969C>T (p.Tyr323=) | gnomAD v4 |
| 10 | g.93626670A>C | CA377631638 | PDE6C | c.970A>C (p.Ile324Leu) | gnomAD v4 |
| 10 | g.93626670A>G | CA377631639 | PDE6C | c.970A>G (p.Ile324Val) | gnomAD v4 |
| 10 | g.93626670A>T | CA377631641 | PDE6C | c.970A>T (p.Ile324Phe) | |
| 10 | g.93626671T>A | CA377631648 | PDE6C | c.971T>A (p.Ile324Asn) | |
| 10 | g.93626671T>C | CA377631650 | PDE6C | c.971T>C (p.Ile324Thr) | |
| 10 | g.93626671T>G | CA377631645 | PDE6C | c.971T>G (p.Ile324Ser) | |
| 10 | g.93626674del | CA2574631804 | PDE6C | c.974del (p.Leu325TyrfsTer9) | gnomAD v4 |
| 10 | g.93626672T>A | CA470795947 | PDE6C | c.972T>A (p.Ile324=) | |
| 10 | g.93626672T>C | CA470795948 | PDE6C | c.972T>C (p.Ile324=) | |
| 10 | g.93626672T>G | CA377631654 | PDE6C | c.972T>G (p.Ile324Met) | |
| 10 | g.93626673T>A | CA377631657 | PDE6C | c.973T>A (p.Leu325Ile) | |
| 10 | g.93626673T>C | CA470795949 | PDE6C | c.973T>C (p.Leu325=) | |
| 10 | g.93626673T>G | CA377631659 | PDE6C | c.973T>G (p.Leu325Val) | |
| 10 | g.93626674T>A | CA377631663 | PDE6C | c.974T>A (p.Leu325Ter) | |
| 10 | g.93626674T>C | CA211576952 | PDE6C | c.974T>C (p.Leu325Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.93626674T>G | CA377631667 | PDE6C | c.974T>G (p.Leu325Ter) | |
| 10 | g.93626674T= | CA1928706314 | PDE6C | c.974T= (p.Leu325=) | |
| 10 | g.93626675A>C | CA377631671 | PDE6C | c.975A>C (p.Leu325Phe) | |
| 10 | g.93626675A>G | CA470795950 | PDE6C | c.975A>G (p.Leu325=) | gnomAD v4 |
| 10 | g.93626675A>T | CA377631673 | PDE6C | c.975A>T (p.Leu325Phe) | |
| 10 | g.93626676C>A | CA377631675 | PDE6C | c.976C>A (p.His326Asn) | gnomAD v4 |
| 10 | g.93626676C>G | CA377631678 | PDE6C | c.976C>G (p.His326Asp) | |
| 10 | g.93626676C>T | CA377631681 | PDE6C | c.976C>T (p.His326Tyr) | |
| 10 | g.93626677del | CA2610210146 | PDE6C | c.977del (p.His326LeufsTer8) | gnomAD v4 |
| 10 | g.93626677A= | CA1928706315 | PDE6C | c.977A= (p.His326=) | |
| 10 | g.93626677A>C | CA377631684 | PDE6C | c.977A>C (p.His326Pro) | |
| 10 | g.93626677A>G | CA5610003 | PDE6C | c.977A>G (p.His326Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.93626677A>T | CA377631689 | PDE6C | c.977A>T (p.His326Leu) | |
| 10 | g.93626678T>A | CA377631693 | PDE6C | c.978T>A (p.His326Gln) | |
| 10 | g.93626678T>C | CA470795951 | PDE6C | c.978T>C (p.His326=) | gnomAD v4 |
| 10 | g.93626678T>G | CA377631696 | PDE6C | c.978T>G (p.His326Gln) | |
| 10 | g.93626679G>A | CA377631705 | PDE6C | c.979G>A (p.Gly327Arg) | |
| 10 | g.93626679G>C | CA377631700 | PDE6C | c.979G>C (p.Gly327Arg) | |
| 10 | g.93626679G>T | CA377631702 | PDE6C | c.979G>T (p.Gly327Ter) | |
| 10 | g.93626680del | CA2574631806 | PDE6C | c.980del (p.Gly327GlufsTer7) | |
| 10 | g.93626680G>A | CA377631707 | PDE6C | c.980G>A (p.Gly327Glu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.93626680G>C | CA377631710 | PDE6C | c.980G>C (p.Gly327Ala) | |
| 10 | g.93626680G>T | CA377631712 | PDE6C | c.980G>T (p.Gly327Val) |