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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.102855233G>A
CA229649
PAH
c.609C>T (p.Cys203=)
c.594C>T (p.Cys198=)
n.705C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.102855233G>C
CA229647
PAH
c.609C>G (p.Cys203Trp)
c.594C>G (p.Cys198Trp)
n.705C>G
ClinVar
dbSNP
Number of alleles fetched
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