| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98395999C>T | CA254827 | CNGA3 | c.829C>T (p.Arg277Cys) c.841C>T (p.Arg281Cys) c.775C>T (p.Arg259Cys) c.940C>T (p.Arg314Cys) c.994C>T (p.Arg332Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98395999C= | CA1273419718 | CNGA3 | c.829C= (p.Arg277=) c.841C= (p.Arg281=) c.775C= (p.Arg259=) c.940C= (p.Arg314=) c.994C= (p.Arg332=) | dbSNP |