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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.94382700G>C
CA390849523
SERPINA1
c.538C>G (p.Gln180Glu)
c.280C>G (p.Gln94Glu)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
14
g.94382700G>A
CA348651
SERPINA1
c.538C>T (p.Gln180Ter)
c.280C>T (p.Gln94Ter)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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