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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.68444858G>A
CA226531
RPE65
c.271C>T (p.Arg91Trp)
c.-6C>T (n.-6C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.68444858G=
CA1140725797
RPE65
c.271C= (p.Arg91=)
c.-6C= (n.-6C=)
dbSNP
Number of alleles fetched
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