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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.117837146G>A
CA252315
EXT1
n.485C>T
c.1018C>T (p.Arg340Cys)
c.386C>T
c.74-1595C>T (n.74-1595C>T)
ClinVar
dbSNP
gnomAD v4
8
g.117837146G>C
CA371893289
EXT1
n.485C>G
c.1018C>G (p.Arg340Gly)
c.386C>G
c.74-1595C>G (n.74-1595C>G)
ClinVar
dbSNP
Number of alleles fetched
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