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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.76347773_76347774dup
CA16041591
BBS10
c.214_215dup (p.Ser73PhefsTer?)
dbSNP
12
g.76347773_76347774del
CA16041590
BBS10
c.214_215del (p.Val72PhefsTer23)
dbSNP
Number of alleles fetched
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