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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.149981243del
CA263255
SLC26A2
c.1650del (p.Ser551ValfsTer?)
c.372+2892del (n.372+2892del)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
5
g.149981243G=
CA3123448357
SLC26A2
c.1650G= (p.Lys550=)
c.372+2892G= (n.372+2892G=)
dbSNP
dbSNP
Number of alleles fetched
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