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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.1771527A>G
CA264172
CLN8
c.473A>G (p.Tyr158Cys)
c.426A>G
c.273A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
8
g.1771527A>C
CA369953637
CLN8
c.473A>C (p.Tyr158Ser)
c.426A>C
c.273A>C
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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