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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.104064575G>A
CA5679345
COL17A1
c.629C>T (p.Thr210Met)
n.744C>T
c.581C>T (p.Thr194Met)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
10
g.104064575G=
CA1933374537
COL17A1
c.629C= (p.Thr210=)
n.744C=
c.581C= (p.Thr194=)
dbSNP
Number of alleles fetched
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