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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.219418599C>T
CA217055
DES
c.137C>T (p.Ser46Phe)
ClinVar
dbSNP
2
g.219418599C>A
CA217053
DES
c.137C>A (p.Ser46Tyr)
ClinVar
dbSNP
gnomAD v4
2
g.219418599C>G
CA350683275
DES
c.137C>G (p.Ser46Cys)
dbSNP
gnomAD v4
Number of alleles fetched
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