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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.48965344C>A
CA126556
FTL
c.-164C>A (n.-164C>A)
c.347C>A (p.Ser116Ter)
ClinVar
dbSNP
gnomAD v4
19
g.48965344C>T
CA149685
FTL
c.-164C>T (n.-164C>T)
c.347C>T (p.Ser116Leu)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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