| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94055133C>T | CA227013 | ABCA4 | c.2565G>A (p.Trp855Ter) c.2343G>A (p.Trp781Ter) c.-65+8041G>A (n.-65+8041G>A) | ClinVar dbSNP |
| 1 | g.94055133C>A | CA341276817 | ABCA4 | c.2565G>T (p.Trp855Cys) c.2343G>T (p.Trp781Cys) c.-65+8041G>T (n.-65+8041G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94055133C>G | CA341276818 | ABCA4 | c.2565G>C (p.Trp855Cys) c.2343G>C (p.Trp781Cys) c.-65+8041G>C (n.-65+8041G>C) | dbSNP gnomAD v4 |
| 1 | g.94055133C= | CA1140725945 | ABCA4 | c.2565G= (p.Trp855=) c.2343G= (p.Trp781=) c.-65+8041G= (n.-65+8041G=) | dbSNP |