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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.216324240C>A
CA252239
USH2A
c.1256G>T (p.Cys419Phe)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.216324240C=
CA1141581514
USH2A
c.1256G= (p.Cys419=)
dbSNP
1
g.216324240C>T
CA344911622
USH2A
c.1256G>A (p.Cys419Tyr)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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