| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57897913C>A | CA254576 | CNGB1 | c.2978G>T (p.Gly993Val) c.2960G>T (p.Gly987Val) c.24G>T n.635G>T c.1829G>T (p.Gly610Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.57897913C>T | CA221643 | CNGB1 | c.2978G>A (p.Gly993Glu) c.2960G>A (p.Gly987Glu) c.24G>A n.635G>A c.1829G>A (p.Gly610Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57897913C= | CA2224826347 | CNGB1 | c.2978G= (p.Gly993=) c.2960G= (p.Gly987=) c.24G= n.635G= c.1829G= (p.Gly610=) | dbSNP |