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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5234426T>A
CA217124417
HBD
c.8A>T (p.His3Leu)
dbSNP
11
g.5234426T>G
CA379277330
HBD
c.8A>C (p.His3Pro)
dbSNP
gnomAD v3
gnomAD v4
11
g.5234426T>C
CA124659
HBD
c.8A>G (p.His3Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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