| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94021695G>T | CA227239 | ABCA4 | c.4793C>A (p.Ala1598Asp) n.287C>A c.1169C>A (p.Ala390Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021695G>C | CA341283673 | ABCA4 | c.4793C>G (p.Ala1598Gly) n.287C>G c.1169C>G (p.Ala390Gly) | ClinVar dbSNP |
| 1 | g.94021695G= | CA1140725983 | ABCA4 | c.4793C= (p.Ala1598=) n.287C= c.1169C= (p.Ala390=) | dbSNP |