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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.56884122del
CA8069594
SLC12A3
c.1743del (p.Met581IlefsTer30)
c.1740del (p.Met580IlefsTer30)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
16
g.56884122G=
CA3217608759
SLC12A3
c.1743G= (p.Met581=)
c.1740G= (p.Met580=)
dbSNP
dbSNP
Number of alleles fetched
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