| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94005500G>A | CA119140 | ABCA4 | c.6088C>T (p.Arg2030Ter) n.504C>T n.202C>T c.2464C>T (p.Arg822Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.94005500G= | CA1140726030 | ABCA4 | c.6088C= (p.Arg2030=) n.504C= n.202C= c.2464C= (p.Arg822=) | dbSNP |
| 1 | g.94005500G>C | CA341279021 | ABCA4 | c.6088C>G (p.Arg2030Gly) n.504C>G n.202C>G c.2464C>G (p.Arg822Gly) | dbSNP |