| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47937505T>C | CA270044 | CNGA1,NIPAL1 | c.977A>G (p.Asp326Gly) c.989A>G (p.Asp330Gly) c.1196A>G (p.Asp399Gly) n.479-21519T>C n.563+22801T>C c.1214A>G (p.Asp405Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47937505T= | CA1455552005 | CNGA1,NIPAL1 | c.977A= (p.Asp326=) c.989A= (p.Asp330=) c.1196A= (p.Asp399=) n.479-21519T= n.563+22801T= c.1214A= (p.Asp405=) | dbSNP |