| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396811C>A | CA254823 | CNGA3 | c.1641C>A (p.Phe547Leu) c.1653C>A (p.Phe551Leu) c.1587C>A (p.Phe529Leu) c.1752C>A (p.Phe584Leu) c.1806C>A (p.Phe602Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396811C>G | CA347833980 | CNGA3 | c.1641C>G (p.Phe547Leu) c.1653C>G (p.Phe551Leu) c.1587C>G (p.Phe529Leu) c.1752C>G (p.Phe584Leu) c.1806C>G (p.Phe602Leu) | ClinVar dbSNP |
| 2 | g.98396811C>T | CA1794057 | CNGA3 | c.1641C>T (p.Phe547=) c.1653C>T (p.Phe551=) c.1587C>T (p.Phe529=) c.1752C>T (p.Phe584=) c.1806C>T (p.Phe602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |