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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68446825G>T
CA418283379
RPE65
c.130C>A (p.Arg44=)
c.-32+1799C>A (n.-32+1799C>A)
dbSNP
gnomAD v4
1
g.68446825G>A
CA902588
RPE65
c.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
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