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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5234098C>G
CA124649
HBD
c.208G>C (p.Gly70Arg)
c.92+244G>C (n.92+244G>C)
ClinVar
dbSNP
gnomAD v4
11
g.5234098C>T
CA217123923
HBD
c.208G>A (p.Gly70Ser)
c.92+244G>A (n.92+244G>A)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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