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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.215900194G>T
CA269919
USH2A
c.7475C>A (p.Ser2492Ter)
ClinVar
dbSNP
gnomAD v4
1
g.215900194G>A
CA1394829
USH2A
c.7475C>T (p.Ser2492Leu)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
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