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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68444632C>T
CA226547
RPE65
c.394G>A (p.Ala132Thr)
c.118G>A (p.Ala40Thr)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.68444632C=
CA1140725791
RPE65
c.394G= (p.Ala132=)
c.118G= (p.Ala40=)
dbSNP
Number of alleles fetched
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