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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48510048A>T
CA012495
FBN1
c.1710T>A (p.Cys570Ter)
n.384T>A
c.636+27663T>A (n.636+27663T>A)
ClinVar
dbSNP
15
g.48510048A>C
CA392340918
FBN1
c.1710T>G (p.Cys570Trp)
n.384T>G
c.636+27663T>G (n.636+27663T>G)
ClinVar
dbSNP
Number of alleles fetched
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