| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94015766G>A | CA341281595 | ABCA4 | c.5285C>T (p.Ala1762Val) c.1661C>T (p.Ala554Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94015766G>T | CA119142 | ABCA4 | c.5285C>A (p.Ala1762Asp) c.1661C>A (p.Ala554Asp) | ClinVar dbSNP |
| 1 | g.94015766G= | CA1141580919 | ABCA4 | c.5285C= (p.Ala1762=) c.1661C= (p.Ala554=) | dbSNP |