| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94014665G>C | CA340713 | ABCA4 | c.5338C>G (p.Pro1780Ala) c.1714C>G (p.Pro572Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94014665G>A | CA341281486 | ABCA4 | c.5338C>T (p.Pro1780Ser) c.1714C>T (p.Pro572Ser) | ClinVar dbSNP |
| 1 | g.94014665G= | CA1141580918 | ABCA4 | c.5338C= (p.Pro1780=) c.1714C= (p.Pro572=) | dbSNP |