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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.118110797G>C
CA371916280
EXT1
c.250C>G (p.Gln84Glu)
c.73+177C>G (n.73+177C>G)
dbSNP
8
g.118110797G>A
CA16618592
EXT1
c.250C>T (p.Gln84Ter)
c.73+177C>T (n.73+177C>T)
ClinVar
dbSNP
Number of alleles fetched
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