| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94008767A>G | CA119145 | ABCA4 | c.5819T>C (p.Leu1940Pro) n.235T>C c.2195T>C (p.Leu732Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94008767A= | CA1140726073 | ABCA4 | c.5819T= (p.Leu1940=) n.235T= c.2195T= (p.Leu732=) | dbSNP |
| 1 | g.94008767A>T | CA341280145 | ABCA4 | c.5819T>A (p.Leu1940Gln) n.235T>A c.2195T>A (p.Leu732Gln) | ClinVar dbSNP |