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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.33054001T>G
CA6944025
KL
c.1054T>G (p.Phe352Val)
n.1062T>G
c.133T>G (p.Phe45Val)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.33054001T>A
CA247528421
KL
c.1054T>A (p.Phe352Ile)
n.1062T>A
c.133T>A (p.Phe45Ile)
dbSNP
Number of alleles fetched
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