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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.149570089A>G
CA114486
MMADHC
c.776T>C (p.Leu259Pro)
c.878T>C (p.Leu293Pro)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
2
g.149570089A=
CA1297264311
MMADHC
c.776T= (p.Leu259=)
c.878T= (p.Leu293=)
dbSNP
Number of alleles fetched
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