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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.21706706G>A
CA9786516
PAX1
c.555G>A (p.Lys185=)
c.483G>A (p.Lys161=)
n.57-175G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
20
g.21706706G=
CA2355005023
PAX1
c.555G= (p.Lys185=)
c.483G= (p.Lys161=)
n.57-175G=
dbSNP
Number of alleles fetched
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