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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.136046406C>A
CA119125
TGFBI
c.370C>A (p.Arg124Ser)
n.527C>A
n.435C>A
n.287C>A
n.662C>A
ClinVar
dbSNP
gnomAD
5
g.136046406C>T
CA119121
TGFBI
c.370C>T (p.Arg124Cys)
n.527C>T
n.435C>T
n.287C>T
n.662C>T
ClinVar
dbSNP
ExAC
gnomAD
COSMIC
COSMIC
Number of alleles fetched
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