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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.46756663G>A
CA406496882
FKRP
c.1213G>A (p.Val405Met)
n.247-5170G>A
n.247+7998G>A
dbSNP
gnomAD v2
gnomAD v4
COSMIC
19
g.46756663G>T
CA116712
FKRP
c.1213G>T (p.Val405Leu)
n.247-5170G>T
n.247+7998G>T
ClinVar
dbSNP
Number of alleles fetched
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