| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86575970T>C | CA179899 | CNGB3 | c.2264A>G (p.Glu755Gly) n.2084A>G c.*675A>G (n.*675A>G) c.276+2719A>G (n.276+2719A>G) c.1850A>G (p.Glu617Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86575970T= | CA1799784289 | CNGB3 | c.2264A= (p.Glu755=) n.2084A= c.*675A= (n.*675A=) c.276+2719A= (n.276+2719A=) c.1850A= (p.Glu617=) | dbSNP |