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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5234193C>T
CA124691
HBD
c.113G>A (p.Trp38Ter)
c.92+149G>A (n.92+149G>A)
ClinVar
dbSNP
11
g.5234193C>G
CA379277123
HBD
c.113G>C (p.Trp38Ser)
c.92+149G>C (n.92+149G>C)
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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