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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.1771124C>G
CA340024
CLN8
c.70C>G (p.Arg24Gly)
c.23C>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
8
g.1771124C>T
CA4599187
CLN8
c.70C>T (p.Arg24Cys)
c.23C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
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