| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94019603dup | CA16043372 | ABCA4 | c.5175dup (p.Thr1726AspfsTer?) n.669dup n.285dup c.1551dup (p.Thr518AspfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94019603C= | CA3071928963 | ABCA4 | c.5175G= (p.Val1725=) n.669G= n.285G= c.1551G= (p.Val517=) | dbSNP |