Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68444825C>TCA226539RPE65c.304G>A (p.Glu102Lys)
c.28G>A (p.Glu10Lys)
 ClinVar dbSNP
1g.68444825C>ACA226540RPE65c.304G>T (p.Glu102Ter)
c.28G>T (p.Glu10Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched