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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68438228G>A
CA902299
RPE65
c.1087C>T (p.Pro363Ser)
c.811C>T (p.Pro271Ser)
ClinVar
dbSNP
ExAC
gnomAD v4
COSMIC
1
g.68438228G>T
CA256730
RPE65
c.1087C>A (p.Pro363Thr)
c.811C>A (p.Pro271Thr)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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