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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20188912T>G
CA134995
GJB2
c.670A>C (p.Lys224Gln)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.20188912T=
CA2077138603
GJB2
c.670A= (p.Lys224=)
dbSNP
13
g.20188912T>A
CA387460677
GJB2
c.670A>T (p.Lys224Ter)
dbSNP
gnomAD v4
Number of alleles fetched
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