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
1g.68444825C=CA1140762642RPE65c.304G= (p.Glu102=)
c.28G= (p.Glu10=)
dbSNP

Number of alleles fetched