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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38455463G>T
CA208114
RYR1
c.1589G>T (p.Arg530Leu)
c.1586G>T (p.Arg529Leu)
n.1672G>T
ClinVar
dbSNP
19
g.38455463G>A
CA024291
RYR1
c.1589G>A (p.Arg530His)
c.1586G>A (p.Arg529His)
n.1672G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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