| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396017C>T | CA254820 | CNGA3 | c.847C>T (p.Arg283Trp) c.859C>T (p.Arg287Trp) c.793C>T (p.Arg265Trp) c.958C>T (p.Arg320Trp) c.1012C>T (p.Arg338Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.98396017C= | CA1273419724 | CNGA3 | c.847C= (p.Arg283=) c.859C= (p.Arg287=) c.793C= (p.Arg265=) c.958C= (p.Arg320=) c.1012C= (p.Arg338=) | dbSNP |