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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.228158333del
CA16617082
GJC2
c.575del (p.Pro192ArgfsTer18)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
1
g.228158333dup
CA1139656618
GJC2
c.575dup (p.Thr195AspfsTer?)
ClinVar
dbSNP
Number of alleles fetched
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