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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756773T>C
CA507976018
FKRP
c.1323T>C (p.Phe441=)
n.247-5060T>C
n.247+8108T>C
dbSNP
19
g.46756773T>G
CA10606861
FKRP
c.1323T>G (p.Phe441Leu)
n.247-5060T>G
n.247+8108T>G
ClinVar
dbSNP
Number of alleles fetched
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