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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.149582208C>G
CA58333608
MMADHC
c.73G>C (p.Val25Leu)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.149582208C>A
CA312747
MMADHC
c.73G>T (p.Val25Phe)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
Number of alleles fetched
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