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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.104057158C>G
CA378073259
COL17A1
c.1282G>C (p.Gly428Arg)
c.1234G>C (p.Gly412Arg)
dbSNP
10
g.104057158C>T
CA5679079
COL17A1
c.1282G>A (p.Gly428Ser)
c.1234G>A (p.Gly412Ser)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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