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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.24956493G>T
CA217534
NEFL
c.23C>A (p.Pro8Gln)
n.229C>A
ClinVar
dbSNP
gnomAD v4
8
g.24956493G>A
CA217537
NEFL
c.23C>T (p.Pro8Leu)
n.229C>T
ClinVar
dbSNP
gnomAD v4
8
g.24956493G>C
CA217536
NEFL
c.23C>G (p.Pro8Arg)
n.229C>G
ClinVar
dbSNP
Number of alleles fetched
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