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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.644634T>C
CA254927
c.633+3547T>C (n.633+3547T>C)
c.877T>C (p.Ter293Arg)
dbSNP
X
g.644634T>C
CA254926
SHOX
c.877T>C (p.Ter293Arg)
c.633+3547T>C (n.633+3547T>C)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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