Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.68446825G>TCA418283379RPE65c.130C>A (p.Arg44=)
c.-32+1799C>A (n.-32+1799C>A)
dbSNP gnomAD v4
1g.68446825G>ACA902588RPE65c.130C>T (p.Arg44Ter)
c.-32+1799C>T (n.-32+1799C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched