| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94042767G>A | CA220683 | ABCA4 | c.3322C>T (p.Arg1108Cys) c.-64-2678C>T (n.-64-2678C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94042767G= | CA1140725849 | ABCA4 | c.3322C= (p.Arg1108=) c.-64-2678C= (n.-64-2678C=) | dbSNP |
| 1 | g.94042767G>C | CA341291856 | ABCA4 | c.3322C>G (p.Arg1108Gly) c.-64-2678C>G (n.-64-2678C>G) | dbSNP |