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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
Y
g.6868402C>T
CA10571932
AMELY
c.208G>A (p.Val70Met)
c.250G>A (p.Val84Met)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Y
g.6868402C>A
CA10571933
AMELY
c.208G>T (p.Val70Leu)
c.250G>T (p.Val84Leu)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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