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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48474369C>T
CA014760
FBN1
c.4096G>A (p.Glu1366Lys)
n.2770G>A
c.768G>A (p.Thr256=)
ClinVar
dbSNP
gnomAD v4
COSMIC
15
g.48474369C>G
CA052073
FBN1
c.4096G>C (p.Glu1366Gln)
n.2770G>C
c.768G>C (p.Thr256=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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