| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149895228C>T | CA256728 | PDE6A | c.1683G>A (p.Trp561Ter) n.1867G>A c.1440G>A (p.Trp480Ter) c.1137G>A (p.Trp379Ter) c.798G>A (p.Trp266Ter) c.636G>A (p.Trp212Ter) c.606G>A (p.Trp202Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149895228C>G | CA361695126 | PDE6A | c.1683G>C (p.Trp561Cys) n.1867G>C c.1440G>C (p.Trp480Cys) c.1137G>C (p.Trp379Cys) c.798G>C (p.Trp266Cys) c.636G>C (p.Trp212Cys) c.606G>C (p.Trp202Cys) | dbSNP gnomAD v4 |
| 5 | g.149895228C= | CA1590702551 | PDE6A | c.1683G= (p.Trp561=) n.1867G= c.1440G= (p.Trp480=) c.1137G= (p.Trp379=) c.798G= (p.Trp266=) c.636G= (p.Trp212=) c.606G= (p.Trp202=) | dbSNP |