| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47937655C>T | CA270042 | CNGA1,NIPAL1 | c.827G>A (p.Arg276His) c.839G>A (p.Arg280His) c.1046G>A (p.Arg349His) n.479-21369C>T n.563+22951C>T c.1064G>A (p.Arg355His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47937655C>A | CA356828106 | CNGA1,NIPAL1 | c.827G>T (p.Arg276Leu) c.839G>T (p.Arg280Leu) c.1046G>T (p.Arg349Leu) n.479-21369C>A n.563+22951C>A c.1064G>T (p.Arg355Leu) | dbSNP |
| 4 | g.47937655C= | CA1455552063 | CNGA1,NIPAL1 | c.827G= (p.Arg276=) c.839G= (p.Arg280=) c.1046G= (p.Arg349=) n.479-21369C= n.563+22951C= c.1064G= (p.Arg355=) | dbSNP |
| 4 | g.47937655C>G | CA356828107 | CNGA1,NIPAL1 | c.827G>C (p.Arg276Pro) c.839G>C (p.Arg280Pro) c.1046G>C (p.Arg349Pro) n.479-21369C>G n.563+22951C>G c.1064G>C (p.Arg355Pro) | ClinVar dbSNP gnomAD v4 |