| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94063157C>T | CA226918 | ABCA4 | c.1715G>A (p.Arg572Gln) c.-65+17G>A (n.-65+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94063157C>G | CA226919 | ABCA4 | c.1715G>C (p.Arg572Pro) c.-65+17G>C (n.-65+17G>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94063157C= | CA1140726129 | ABCA4 | c.1715G= (p.Arg572=) c.-65+17G= (n.-65+17G=) | dbSNP |