| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396755G>A | CA254826 | CNGA3 | c.1585G>A (p.Val529Met) c.1597G>A (p.Val533Met) c.1531G>A (p.Val511Met) c.1696G>A (p.Val566Met) c.1750G>A (p.Val584Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98396755G= | CA1273420051 | CNGA3 | c.1585G= (p.Val529=) c.1597G= (p.Val533=) c.1531G= (p.Val511=) c.1696G= (p.Val566=) c.1750G= (p.Val584=) | dbSNP |
| 2 | g.98396755G>C | CA347833861 | CNGA3 | c.1585G>C (p.Val529Leu) c.1597G>C (p.Val533Leu) c.1531G>C (p.Val511Leu) c.1696G>C (p.Val566Leu) c.1750G>C (p.Val584Leu) | ClinVar dbSNP gnomAD v4 |