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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756214G>A
CA116718
FKRP
c.764G>A (p.Trp255Ter)
n.247-5619G>A
n.247+7549G>A
ClinVar
dbSNP
gnomAD v4
19
g.46756214G=
CA2339067328
FKRP
c.764G= (p.Trp255=)
n.247-5619G=
n.247+7549G=
dbSNP
Number of alleles fetched
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