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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.236559808C>T
CA1471256
HEATR1
c.4676G>A (p.Ser1559Asn)
c.4433G>A (p.Ser1478Asn)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.236559808C=
CA1140076727
HEATR1
c.4676G= (p.Ser1559=)
c.4433G= (p.Ser1478=)
dbSNP
Number of alleles fetched
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