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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.123040605C>T
CA120176
ACADSB
c.443C>T (p.Thr148Ile)
c.137C>T (p.Thr46Ile)
n.460C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
10
g.123040605C=
CA1941714337
ACADSB
c.443C= (p.Thr148=)
c.137C= (p.Thr46=)
n.460C=
dbSNP
Number of alleles fetched
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