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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.128345497C>T
CA467483687
SLC27A4
c.504C>T (p.Cys168=)
c.231+2216C>T (n.231+2216C>T)
dbSNP
gnomAD v2
gnomAD v4
9
g.128345497C>A
CA117712
SLC27A4
c.504C>A (p.Cys168Ter)
c.231+2216C>A (n.231+2216C>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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