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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.104034101del
CA5677743
COL17A1
c.3754del (p.Arg1252GlyfsTer?)
c.30del
c.4000del (p.Arg1334GlyfsTer?)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
10
g.104034101T=
CA1933418130
COL17A1
c.3754A= (p.Arg1252=)
c.30A=
c.4000A= (p.Arg1334=)
dbSNP
dbSNP
Number of alleles fetched
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