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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.89227904C>A
CA227500
TYR
c.1118C>A (p.Thr373Lys)
n.2717+43556G>T
n.2732+43556G>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.89227904C=
CA1989952169
TYR
c.1118C= (p.Thr373=)
n.2717+43556G=
n.2732+43556G=
dbSNP
Number of alleles fetched
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