| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98389696C>T | CA254819 | CNGA3 | c.488C>T (p.Pro163Leu) n.493C>T c.500C>T (p.Pro167Leu) c.434C>T (p.Pro145Leu) c.599C>T (p.Pro200Leu) c.653C>T (p.Pro218Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98389696C>A | CA347831493 | CNGA3 | c.488C>A (p.Pro163Gln) n.493C>A c.500C>A (p.Pro167Gln) c.434C>A (p.Pro145Gln) c.599C>A (p.Pro200Gln) c.653C>A (p.Pro218Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.98389696C>G | CA347831492 | CNGA3 | c.488C>G (p.Pro163Arg) n.493C>G c.500C>G (p.Pro167Arg) c.434C>G (p.Pro145Arg) c.599C>G (p.Pro200Arg) c.653C>G (p.Pro218Arg) | dbSNP |
| 2 | g.98389696C= | CA1273416670 | CNGA3 | c.488C= (p.Pro163=) n.493C= c.500C= (p.Pro167=) c.434C= (p.Pro145=) c.599C= (p.Pro200=) c.653C= (p.Pro218=) | dbSNP |