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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.89227932C>A
CA227506
TYR
c.1146C>A (p.Asn382Lys)
n.2717+43528G>T
n.2732+43528G>T
ClinVar
dbSNP
gnomAD v2
gnomAD v4
11
g.89227932C>T
CA6221355
TYR
c.1146C>T (p.Asn382=)
n.2717+43528G>A
n.2732+43528G>A
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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