| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396018G>A | CA254821 | CNGA3 | c.848G>A (p.Arg283Gln) c.860G>A (p.Arg287Gln) c.794G>A (p.Arg265Gln) c.959G>A (p.Arg320Gln) c.1013G>A (p.Arg338Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98396018G>T | CA347832268 | CNGA3 | c.848G>T (p.Arg283Leu) c.860G>T (p.Arg287Leu) c.794G>T (p.Arg265Leu) c.959G>T (p.Arg320Leu) c.1013G>T (p.Arg338Leu) | ClinVar dbSNP COSMIC |
| 2 | g.98396018G>C | CA347832267 | CNGA3 | c.848G>C (p.Arg283Pro) c.860G>C (p.Arg287Pro) c.794G>C (p.Arg265Pro) c.959G>C (p.Arg320Pro) c.1013G>C (p.Arg338Pro) | ClinVar dbSNP |
| 2 | g.98396018G= | CA1273419725 | CNGA3 | c.848G= (p.Arg283=) c.860G= (p.Arg287=) c.794G= (p.Arg265=) c.959G= (p.Arg320=) c.1013G= (p.Arg338=) | dbSNP |