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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.216325499G>A
CA344912575
USH2A
c.949C>T (p.Arg317Trp)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.216325499G>T
CA252237
USH2A
c.949C>A (p.Arg317=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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