| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94060733A>C | CA347415 | ABCA4 | c.1964T>G (p.Phe655Cys) n.84T>G c.-65+2441T>G (n.-65+2441T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94060733A>G | CA341278882 | ABCA4 | c.1964T>C (p.Phe655Ser) n.84T>C c.-65+2441T>C (n.-65+2441T>C) | dbSNP gnomAD v4 |
| 1 | g.94060733A>T | CA341278884 | ABCA4 | c.1964T>A (p.Phe655Tyr) n.84T>A c.-65+2441T>A (n.-65+2441T>A) | dbSNP gnomAD v4 |
| 1 | g.94060733A= | CA1143433939 | ABCA4 | c.1964T= (p.Phe655=) n.84T= c.-65+2441T= (n.-65+2441T=) | dbSNP |