| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94062608G>A | CA10588302 | ABCA4 | c.1906C>T (p.Gln636Ter) c.-65+566C>T (n.-65+566C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94062608G= | CA1142086186 | ABCA4 | c.1906C= (p.Gln636=) c.-65+566C= (n.-65+566C=) | dbSNP |
| 1 | g.94062608G>T | CA341279281 | ABCA4 | c.1906C>A (p.Gln636Lys) c.-65+566C>A (n.-65+566C>A) | ClinVar dbSNP gnomAD v4 |