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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68431160A>C
CA226509
RPE65
c.1355T>G (p.Val452Gly)
c.1079T>G (p.Val360Gly)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.68431160A=
CA1140762635
RPE65
c.1355T= (p.Val452=)
c.1079T= (p.Val360=)
dbSNP
Number of alleles fetched
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