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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.47442780G>C
CA5976702
RAPSN
c.566C>G (p.Ala189Gly)
c.532-859C>G (n.532-859C>G)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
11
g.47442780G>A
CA119260
RAPSN
c.566C>T (p.Ala189Val)
c.532-859C>T (n.532-859C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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