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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.6044303dup
CA6403079
VWF
c.2435dup (p.Met814HisfsTer5)
n.421-50364dup
ClinVar
dbSNP
ExAC
gnomAD v4
COSMIC
12
g.6044303del
CA114153
VWF
c.2435del (p.Pro812ArgfsTer?)
n.421-50364del
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
Number of alleles fetched
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