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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.56870699T>C
CA250393
SLC12A3
c.815T>C (p.Leu272Pro)
c.812T>C (p.Leu271Pro)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.56870699T=
CA2224349565
SLC12A3
c.815T= (p.Leu272=)
c.812T= (p.Leu271=)
dbSNP
Number of alleles fetched
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