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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189511C>T
CA172240
GJB2
c.71G>A (p.Trp24Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.20189511C>G
CA387462079
GJB2
c.71G>C (p.Trp24Ser)
ClinVar
dbSNP
gnomAD v4
13
g.20189511C=
CA2077140478
GJB2
c.71G= (p.Trp24=)
dbSNP
Number of alleles fetched
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