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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.104038409G>A
CA258050
COL17A1
c.2932C>T (p.Gln978Ter)
c.3067C>T (p.Gln1023Ter)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
10
g.104038409G=
CA1933389951
COL17A1
c.2932C= (p.Gln978=)
c.3067C= (p.Gln1023=)
dbSNP
Number of alleles fetched
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