| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94015769G>C | CA16603704 | ABCA4 | c.5282C>G (p.Pro1761Arg) c.1658C>G (p.Pro553Arg) | ClinVar dbSNP |
| 1 | g.94015769G= | CA1181411645 | ABCA4 | c.5282C= (p.Pro1761=) c.1658C= (p.Pro553=) | dbSNP |
| 1 | g.94015769G>A | CA341281600 | ABCA4 | c.5282C>T (p.Pro1761Leu) c.1658C>T (p.Pro553Leu) | dbSNP gnomAD v4 |