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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68439586G>A
CA226577
RPE65
c.700C>T (p.Arg234Ter)
c.424C>T (p.Arg142Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.68439586G=
CA1140725774
RPE65
c.700C= (p.Arg234=)
c.424C= (p.Arg142=)
dbSNP
Number of alleles fetched
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