| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.86644671C>A | CA274198 | CNGB3 | c.1006G>T (p.Glu336Ter) n.826G>T c.592G>T (p.Glu198Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.86644671C>T | CA371447755 | CNGB3 | c.1006G>A (p.Glu336Lys) n.826G>A c.592G>A (p.Glu198Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.86644671C= | CA1799826706 | CNGB3 | c.1006G= (p.Glu336=) n.826G= c.592G= (p.Glu198=) | dbSNP |