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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.121137648T>A
CA254067
TBCEL-TECTA,TECTA
c.3169T>A (p.Cys1057Ser)
c.476T>A
c.4126T>A (p.Cys1376Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
11
g.121137648T=
CA2004733837
TBCEL-TECTA,TECTA
c.3169T= (p.Cys1057=)
c.476T=
c.4126T= (p.Cys1376=)
dbSNP
Number of alleles fetched
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