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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.41767470A>G
CA308566
JUP
c.818T>C (p.Met273Thr)
c.869T>C (p.Met290Thr)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
17
g.41767470A=
CA2260175165
JUP
c.818T= (p.Met273=)
c.869T= (p.Met290=)
dbSNP
Number of alleles fetched
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