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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.24953646G>C
CA370620192
NEFL
c.1319C>G (p.Pro440Arg)
c.*184C>G (n.*184C>G)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
8
g.24953646G>A
CA233076
NEFL
c.1319C>T (p.Pro440Leu)
c.*184C>T (n.*184C>T)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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