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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48468527A>G
CA490027552
FBN1
c.4467T>C (p.Asn1489=)
n.3141T>C
c.*230T>C (n.*230T>C)
dbSNP
gnomAD v2
gnomAD v4
15
g.48468527A>T
CA015124
FBN1
c.4467T>A (p.Asn1489Lys)
n.3141T>A
c.*230T>A (n.*230T>A)
ClinVar
dbSNP
Number of alleles fetched
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