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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.70415987C>T
CA115889
CTH
c.200C>T (p.Thr67Ile)
n.344C>T
c.-128C>T (n.-128C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.70415987C>A
CA906109
CTH
c.200C>A (p.Thr67Asn)
n.344C>A
c.-128C>A (n.-128C>A)
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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