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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.232526603C>T
CA2167903
CHRND
c.127C>T (p.Arg43Trp)
c.-145C>T (n.-145C>T)
c.-4294967113C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.232526603C=
CA1335309546
CHRND
c.127C= (p.Arg43=)
c.-145C= (n.-145C=)
c.-4294967113C=
dbSNP
Number of alleles fetched
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