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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756376A>G
CA116695
FKRP
c.926A>G (p.Tyr309Cys)
n.247-5457A>G
n.247+7711A>G
ClinVar
dbSNP
gnomAD v2
gnomAD v4
19
g.46756376A=
CA2339067503
FKRP
c.926A= (p.Tyr309=)
n.247-5457A=
n.247+7711A=
dbSNP
Number of alleles fetched
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