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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.149980750C>T
CA263247
SLC26A2
c.1157C>T (p.Ala386Val)
c.372+2399C>T (n.372+2399C>T)
ClinVar
dbSNP
5
g.149980750C>G
CA3505393
SLC26A2
c.1157C>G (p.Ala386Gly)
c.372+2399C>G (n.372+2399C>G)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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