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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.24953704G>A
CA274856
NEFL
c.1261C>T (p.Arg421Ter)
c.*126C>T (n.*126C>T)
ClinVar
dbSNP
gnomAD v4
8
g.24953704G>T
CA4681306
NEFL
c.1261C>A (p.Arg421=)
c.*126C>A (n.*126C>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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