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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48596311G>C
CA015657
FBN1
c.510C>G (p.Tyr170Ter)
ClinVar
dbSNP
15
g.48596311G>A
CA015665
FBN1
c.510C>T (p.Tyr170=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
Number of alleles fetched
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