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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.216325492C>A
CA344912560
USH2A
c.956G>T (p.Cys319Phe)
ClinVar
dbSNP
1
g.216325492C>T
CA252231
USH2A
c.956G>A (p.Cys319Tyr)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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