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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68429927C>A
CA902151
RPE65
c.1451G>T (p.Gly484Val)
c.1175G>T (p.Gly392Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.68429927C>T
CA226517
RPE65
c.1451G>A (p.Gly484Asp)
c.1175G>A (p.Gly392Asp)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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