| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396839G>A | CA199157 | CNGA3 | c.1669G>A (p.Gly557Arg) c.1681G>A (p.Gly561Arg) c.1615G>A (p.Gly539Arg) c.1780G>A (p.Gly594Arg) c.1834G>A (p.Gly612Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396839G>T | CA347834039 | CNGA3 | c.1669G>T (p.Gly557Trp) c.1681G>T (p.Gly561Trp) c.1615G>T (p.Gly539Trp) c.1780G>T (p.Gly594Trp) c.1834G>T (p.Gly612Trp) | dbSNP gnomAD v4 |
| 2 | g.98396839G= | CA1273420088 | CNGA3 | c.1669G= (p.Gly557=) c.1681G= (p.Gly561=) c.1615G= (p.Gly539=) c.1780G= (p.Gly594=) c.1834G= (p.Gly612=) | dbSNP |