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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.23048022G>T
CA313550530
THBD
c.1483C>A (p.Pro495Thr)
dbSNP
gnomAD v3
gnomAD v4
20
g.23048022G>A
CA256543
THBD
c.1483C>T (p.Pro495Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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