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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48474315T>C
CA014788
FBN1
c.4150A>G (p.Met1384Val)
n.2824A>G
c.822A>G (p.Pro274=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
15
g.48474315T>A
CA392320220
FBN1
c.4150A>T (p.Met1384Leu)
n.2824A>T
c.822A>T (p.Pro274=)
dbSNP
Number of alleles fetched
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