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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5232765C>T
CA124679
HBD
c.349G>A (p.Gly117Arg)
ClinVar
dbSNP
gnomAD v4
11
g.5232765C>A
CA379276214
HBD
c.349G>T (p.Gly117Trp)
dbSNP
gnomAD v2
gnomAD v4
11
g.5232765C>G
CA379276215
HBD
c.349G>C (p.Gly117Arg)
dbSNP
Number of alleles fetched
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