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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.45508974G>A
CA223195
MMACHC
c.608G>A (p.Trp203Ter)
c.437G>A (p.Trp146Ter)
c.413G>A (p.Trp138Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
1
g.45508974G=
CA1144232805
MMACHC
c.608G= (p.Trp203=)
c.437G= (p.Trp146=)
c.413G= (p.Trp138=)
dbSNP
Number of alleles fetched
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