| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94031778C>G | CA16621568 | ABCA4 | c.4128G>C (p.Gln1376His) c.504G>C (p.Gln168His) | ClinVar dbSNP |
| 1 | g.94031778C>T | CA418825190 | ABCA4 | c.4128G>A (p.Gln1376=) c.504G>A (p.Gln168=) | ClinVar dbSNP |
| 1 | g.94031778C= | CA1181415418 | ABCA4 | c.4128G= (p.Gln1376=) c.504G= (p.Gln168=) | dbSNP |