| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94007731G>A | CA119133 | ABCA4 | c.5908C>T (p.Leu1970Phe) n.324C>T n.22C>T c.2284C>T (p.Leu762Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94007731G>T | CA341279712 | ABCA4 | c.5908C>A (p.Leu1970Ile) n.324C>A n.22C>A c.2284C>A (p.Leu762Ile) | ClinVar dbSNP |
| 1 | g.94007731G= | CA1140495687 | ABCA4 | c.5908C= (p.Leu1970=) n.324C= n.22C= c.2284C= (p.Leu762=) | dbSNP |
| 1 | g.94007731G>C | CA341279715 | ABCA4 | c.5908C>G (p.Leu1970Val) n.324C>G n.22C>G c.2284C>G (p.Leu762Val) | dbSNP |