| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47936861C>T | CA270046 | CNGA1,NIPAL1 | c.1621G>A (p.Gly541Ser) c.1633G>A (p.Gly545Ser) c.1840G>A (p.Gly614Ser) n.478+22157C>T n.563+22157C>T c.1858G>A (p.Gly620Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.47936861C= | CA1455551740 | CNGA1,NIPAL1 | c.1621G= (p.Gly541=) c.1633G= (p.Gly545=) c.1840G= (p.Gly614=) n.478+22157C= n.563+22157C= c.1858G= (p.Gly620=) | dbSNP |