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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.100407513del
CA10468918
PCDH19
c.1091del (p.Pro364ArgfsTer4)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
COSMIC
X
g.100407513dup
CA200395
PCDH19
c.1091dup (p.Tyr366LeufsTer10)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
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