| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47937535G>C | CA2911163 | CNGA1,NIPAL1 | c.947C>G (p.Ser316Cys) c.959C>G (p.Ser320Cys) c.1166C>G (p.Ser389Cys) n.479-21489G>C n.563+22831G>C c.1184C>G (p.Ser395Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47937535G>A | CA126990 | CNGA1,NIPAL1 | c.947C>T (p.Ser316Phe) c.959C>T (p.Ser320Phe) c.1166C>T (p.Ser389Phe) n.479-21489G>A n.563+22831G>A c.1184C>T (p.Ser395Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47937535G= | CA1455552014 | CNGA1,NIPAL1 | c.947C= (p.Ser316=) c.959C= (p.Ser320=) c.1166C= (p.Ser389=) n.479-21489G= n.563+22831G= c.1184C= (p.Ser395=) | dbSNP |