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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.145639422C>T
CA340040
MMAA
c.283C>T (p.Gln95Ter)
n.771C>T
c.-501C>T (n.-501C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
4
g.145639422C=
CA1501192797
MMAA
c.283C= (p.Gln95=)
n.771C=
c.-501C= (n.-501C=)
dbSNP
Number of alleles fetched
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