| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47949894C>T | CA2911341 | CNGA1,NIPAL1 | c.226G>A (p.Glu76Lys) c.238G>A (p.Glu80Lys) c.445G>A (p.Glu149Lys) n.479-9130C>T n.226G>A n.563+35190C>T c.463G>A (p.Glu155Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47949894C>A | CA126986 | CNGA1,NIPAL1 | c.226G>T (p.Glu76Ter) c.238G>T (p.Glu80Ter) c.445G>T (p.Glu149Ter) n.479-9130C>A n.226G>T n.563+35190C>A c.463G>T (p.Glu155Ter) | ClinVar dbSNP gnomAD v4 |