| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94037276C>A | CA16042373 | ABCA4 | c.3682G>T (p.Glu1228Ter) c.58G>T (p.Glu20Ter) | ClinVar dbSNP COSMIC |
| 1 | g.94037276C= | CA1181417621 | ABCA4 | c.3682G= (p.Glu1228=) c.58G= (p.Glu20=) | dbSNP |
| 1 | g.94037276C>T | CA341289425 | ABCA4 | c.3682G>A (p.Glu1228Lys) c.58G>A (p.Glu20Lys) | dbSNP gnomAD v4 |