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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.13492506G>A
CA123438
PTH
c.247C>T (p.Arg83Ter)
c.343C>T (p.Arg115Ter)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
11
g.13492506G>T
CA5893169
PTH
c.247C>A (p.Arg83=)
c.343C>A (p.Arg115=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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