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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189095T>G
CA16621538
GJB2
c.487A>C (p.Met163Leu)
ClinVar
dbSNP
13
g.20189095T>C
CA134981
GJB2
c.487A>G (p.Met163Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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