| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.98396476C>T | CA254828 | CNGA3 | c.1306C>T (p.Arg436Trp) c.1318C>T (p.Arg440Trp) c.1252C>T (p.Arg418Trp) c.1417C>T (p.Arg473Trp) c.1471C>T (p.Arg491Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.98396476C= | CA1273419911 | CNGA3 | c.1306C= (p.Arg436=) c.1318C= (p.Arg440=) c.1252C= (p.Arg418=) c.1417C= (p.Arg473=) c.1471C= (p.Arg491=) | dbSNP |