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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.89227898A>C
CA227499
TYR
c.1112A>C (p.Asn371Thr)
n.2717+43562T>G
n.2732+43562T>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
11
g.89227898A=
CA1989952134
TYR
c.1112A= (p.Asn371=)
n.2717+43562T=
n.2732+43562T=
dbSNP
Number of alleles fetched
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