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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.1771263G>C
CA369953092
CLN8
c.209G>C (p.Arg70Pro)
c.162G>C
c.9G>C
ClinVar
dbSNP
8
g.1771263G>A
CA264159
CLN8
c.209G>A (p.Arg70His)
c.162G>A
c.9G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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