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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48508602G>C
CA392340231
FBN1
c.1817C>G (p.Ser606Ter)
n.491C>G
c.636+29109C>G (n.636+29109C>G)
ClinVar
dbSNP
15
g.48508602G>T
CA012566
FBN1
c.1817C>A (p.Ser606Ter)
n.491C>A
c.636+29109C>A (n.636+29109C>A)
ClinVar
dbSNP
Number of alleles fetched
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