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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.4933350G>A
CA397318410
CHRNE,GP1BA
c.746G>A (p.Gly249Asp)
c.-888+992C>T (n.-888+992C>T)
ClinVar
dbSNP
gnomAD v4
17
g.4933350G>T
CA116659
CHRNE,GP1BA
c.746G>T (p.Gly249Val)
c.-888+992C>A (n.-888+992C>A)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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