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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.121847211G>C
CA115062
HPD
c.600C>G (p.Tyr200Ter)
c.483C>G (p.Tyr161Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.121847211G=
CA2068078627
HPD
c.600C= (p.Tyr200=)
c.483C= (p.Tyr161=)
dbSNP
Number of alleles fetched
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