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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48474565G>T
CA014724
FBN1
c.4050C>A (p.Cys1350Ter)
n.2724C>A
c.722C>A (p.Ala241Glu)
ClinVar
dbSNP
15
g.48474565G>A
CA269520539
FBN1
c.4050C>T (p.Cys1350=)
n.2724C>T
c.722C>T (p.Ala241Val)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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