| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94051698C>T | CA341276207 | ABCA4 | c.2588G>A (p.Gly863Glu) c.2366G>A (p.Gly789Glu) c.-65+11476G>A (n.-65+11476G>A) | dbSNP gnomAD v2 |
| 1 | g.94051698C>G | CA119128 | ABCA4 | c.2588G>C (p.Gly863Ala) c.2366G>C (p.Gly789Ala) c.-65+11476G>C (n.-65+11476G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94051698C= | CA1140979107 | ABCA4 | c.2588G= (p.Gly863=) c.2366G= (p.Gly789=) c.-65+11476G= (n.-65+11476G=) | dbSNP |