| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86668055G>A | CA253441 | CNGB3 | c.607C>T (p.Arg203Ter) c.193C>T (p.Arg65Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668055G>C | CA4800341 | CNGB3 | c.607C>G (p.Arg203Gly) c.193C>G (p.Arg65Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86668055G>T | CA180364003 | CNGB3 | c.607C>A (p.Arg203=) c.193C>A (p.Arg65=) | ClinVar dbSNP gnomAD v4 |