| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94030427C>G | CA341285654 | ABCA4 | c.4352+1G>C (n.4352+1G>C) c.728+1G>C (n.728+1G>C) | ClinVar dbSNP |
| 1 | g.94030427C>T | CA957648 | ABCA4 | c.4352+1G>A (n.4352+1G>A) c.728+1G>A (n.728+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94030427C= | CA1143451920 | ABCA4 | c.4352+1G= (n.4352+1G=) c.728+1G= (n.728+1G=) | dbSNP |