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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.202513782T>A
CA350338192
BMPR2
c.482T>A (p.Leu161Ter)
c.413T>A (p.Leu138Ter)
ClinVar
dbSNP
2
g.202513782T>C
CA350338194
BMPR2
c.482T>C (p.Leu161Ser)
c.413T>C (p.Leu138Ser)
dbSNP
gnomAD v4
Number of alleles fetched
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