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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
6
g.144186800T>C
CA267503
STX11
c.173T>C (p.Leu58Pro)
c.251T>C (p.Leu84Pro)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
6
g.144186800T=
CA1669582509
STX11
c.173T= (p.Leu58=)
c.251T= (p.Leu84=)
dbSNP
Number of alleles fetched
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