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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756125del
CA10605846
FKRP
c.675del (p.Thr226ProfsTer13)
n.247-5708del
n.247+7460del
ClinVar
dbSNP
19
g.46756125G=
CA3233732228
FKRP
c.675G= (p.Gln225=)
n.247-5708G=
n.247+7460G=
dbSNP
Number of alleles fetched
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