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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.47447904C>T
CA5976743
RAPSN
c.439G>A (p.Glu147Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.47447904C=
CA1969390470
RAPSN
c.439G= (p.Glu147=)
dbSNP
11
g.47447904C>G
CA380333951
RAPSN
c.439G>C (p.Glu147Gln)
dbSNP
gnomAD v4
Number of alleles fetched
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