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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.145639526C>A
CA312703
MMAA
c.387C>A (p.Tyr129Ter)
n.875C>A
c.-397C>A (n.-397C>A)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
4
g.145639526C=
CA1501193000
MMAA
c.387C= (p.Tyr129=)
n.875C=
c.-397C= (n.-397C=)
dbSNP
Number of alleles fetched
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