| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.93998061C>T | CA119130 | ABCA4 | c.6529G>A (p.Asp2177Asn) c.2905G>A (p.Asp969Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.93998061C>G | CA341276650 | ABCA4 | c.6529G>C (p.Asp2177His) c.2905G>C (p.Asp969His) | dbSNP |
| 1 | g.93998061C= | CA1139894818 | ABCA4 | c.6529G= (p.Asp2177=) c.2905G= (p.Asp969=) | dbSNP |