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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.41771799G>A
CA185075
JUP
c.56C>T (p.Thr19Ile)
n.184C>T
c.107C>T (p.Thr36Ile)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
17
g.41771799G=
CA2260177311
JUP
c.56C= (p.Thr19=)
n.184C=
c.107C= (p.Thr36=)
dbSNP
Number of alleles fetched
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