| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68446825G>T | CA418283379 | RPE65 | c.130C>A (p.Arg44=) c.-32+1799C>A (n.-32+1799C>A) | dbSNP gnomAD v4 |
| 1 | g.68446825G>A | CA902588 | RPE65 | c.130C>T (p.Arg44Ter) c.-32+1799C>T (n.-32+1799C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.68446825G= | CA1143573569 | RPE65 | c.130C= (p.Arg44=) c.-32+1799C= (n.-32+1799C=) | dbSNP |