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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.69599802C>A
CA16605888
AUTS2
c.149C>A (p.Ser50Ter)
ClinVar
dbSNP
7
g.69599802C>T
CA367702947
AUTS2
c.149C>T (p.Ser50Leu)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
7
g.69599802C>G
CA4280241
AUTS2
c.149C>G (p.Ser50Trp)
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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