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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.143320744A>G
CA258030
CLCN1
c.382A>G (p.Met128Val)
c.150A>G
n.469A>G
c.89A>G (p.Asp30Gly)
n.484A>G
ClinVar
dbSNP
gnomAD v4
7
g.143320744A=
CA1748887306
CLCN1
c.382A= (p.Met128=)
c.150A=
n.469A=
c.89A= (p.Asp30=)
n.484A=
dbSNP
Number of alleles fetched
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