| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396042C>G | CA254822 | CNGA3 | c.872C>G (p.Thr291Arg) c.884C>G (p.Thr295Arg) c.818C>G (p.Thr273Arg) c.983C>G (p.Thr328Arg) c.1037C>G (p.Thr346Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.98396042C>T | CA347832322 | CNGA3 | c.872C>T (p.Thr291Ile) c.884C>T (p.Thr295Ile) c.818C>T (p.Thr273Ile) c.983C>T (p.Thr328Ile) c.1037C>T (p.Thr346Ile) | dbSNP COSMIC |