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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48516303dup
CA10587856
FBN1
c.1211dup (p.Pro405ThrfsTer?)
c.636+21412dup (n.636+21412dup)
ClinVar
dbSNP
15
g.48516303del
CA012028
FBN1
c.1211del (p.Pro404HisfsTer?)
c.636+21412del (n.636+21412del)
ClinVar
dbSNP
Number of alleles fetched
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