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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.45500335G>A
CA312724
MMACHC
c.3G>A (p.Met1Ile)
c.-220G>A (n.-220G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.45500335G=
CA2473780176
MMACHC
c.3G= (p.Met1=)
c.-220G= (n.-220G=)
dbSNP
Number of alleles fetched
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