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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.13072400T>C
CA9765701
SPTLC3
c.448T>C (p.Trp150Arg)
c.367T>C (p.Trp123Arg)
n.505T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
20
g.13072400T=
CA2351054190
SPTLC3
c.448T= (p.Trp150=)
c.367T= (p.Trp123=)
n.505T=
dbSNP
Number of alleles fetched
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