| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86667075A>G | CA461830970 | CNGB3 | c.702T>C (p.Cys234=) c.288T>C (p.Cys96=) | dbSNP |
| 8 | g.86667075A>C | CA4800300 | CNGB3 | c.702T>G (p.Cys234Trp) c.288T>G (p.Cys96Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86667075A>T | CA371449560 | CNGB3 | c.702T>A (p.Cys234Ter) c.288T>A (p.Cys96Ter) | ClinVar dbSNP |