Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.68429835G>C | CA340741048 | RPE65 | c.1543C>G (p.Arg515Gly) c.1267C>G (p.Arg423Gly) | dbSNP |
1 | g.68429835G>T | CA418276146 | RPE65 | c.1543C>A (p.Arg515=) c.1267C>A (p.Arg423=) | dbSNP COSMIC |
1 | g.68429835G>A | CA226519 | RPE65 | c.1543C>T (p.Arg515Trp) c.1267C>T (p.Arg423Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |