Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68429927C>ACA902151RPE65c.1451G>T (p.Gly484Val)
c.1175G>T (p.Gly392Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.68429927C>TCA226517RPE65c.1451G>A (p.Gly484Asp)
c.1175G>A (p.Gly392Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched