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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.1771598G>A
CA369953788
CLN8
c.543+1G>A (n.543+1G>A)
c.496+1G>A
c.343+1G>A
ClinVar
dbSNP
COSMIC
COSMIC
8
g.1771598G>T
CA4599282
CLN8
c.543+1G>T (n.543+1G>T)
c.496+1G>T
c.343+1G>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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