| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94046943T>C | CA958124 | ABCA4 | c.2894A>G (p.Asn965Ser) c.2672A>G (p.Asn891Ser) c.-64-6854A>G (n.-64-6854A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94046943T= | CA1143484971 | ABCA4 | c.2894A= (p.Asn965=) c.2672A= (p.Asn891=) c.-64-6854A= (n.-64-6854A=) | dbSNP |