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Full registry entry
Patient Id
UMHA0193
Inhibitors
?
Mutation Type
SUSTITUTION
Gen
FVIII
Mutation effect
SPLICING ERROR
Region
INTRON
Exon inton number
10
Affected Codon
-
Affected nucleotide
Mutation AA
Mutation Nuc
IVS10+10C>G
Original-final codons
AG/gtaaatattc>AG/gtaaatattg
Affected domain
Refrence
AA change
ERROR DE SPLICING
Diagnostic lab
UDTM
Coagulopathy
HA
Severity
FactorC(%)
FactorAg(%)
Origin
ID
280
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