| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94098928G>T | CA341289643 | ABCA4 | c.634C>A (p.Arg212Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94098928G>A | CA203216 | ABCA4 | c.634C>T (p.Arg212Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94098928G= | CA1140726155 | ABCA4 | c.634C= (p.Arg212=) | dbSNP |
| 1 | g.94098928G>C | CA341289631 | ABCA4 | c.634C>G (p.Arg212Gly) | dbSNP |