| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.68438228G>A | CA902299 | RPE65 | c.1087C>T (p.Pro363Ser) c.811C>T (p.Pro271Ser) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| 1 | g.68438228G>T | CA256730 | RPE65 | c.1087C>A (p.Pro363Thr) c.811C>A (p.Pro271Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.68438228G>C | CA340744124 | RPE65 | c.1087C>G (p.Pro363Ala) c.811C>G (p.Pro271Ala) | dbSNP gnomAD v4 |
| 1 | g.68438228G= | CA1141580844 | RPE65 | c.1087C= (p.Pro363=) c.811C= (p.Pro271=) | dbSNP |