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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189443C>A
CA172213
GJB2
c.139G>T (p.Glu47Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.20189443C>T
CA387461835
GJB2
c.139G>A (p.Glu47Lys)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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