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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.31524526C>T
CA022251
DSG2
n.600C>T
c.600C>T
c.769C>T (p.Gln257Ter)
c.235C>T (p.Gln79Ter)
ClinVar
dbSNP
18
g.31524526C>G
CA402135106
DSG2
n.600C>G
c.600C>G
c.769C>G (p.Gln257Glu)
c.235C>G (p.Gln79Glu)
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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