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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756814C>A
CA116710
FKRP
c.1364C>A (p.Ala455Asp)
n.247-5019C>A
n.247+8149C>A
ClinVar
dbSNP
gnomAD v4
19
g.46756814C>T
CA9532303
FKRP
c.1364C>T (p.Ala455Val)
n.247-5019C>T
n.247+8149C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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