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Full registry entry

Patient Id

 UMHA0547

Inhibitors

  

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1194

Affected nucleotide

 -

Mutation AA

 FRAMESHIFT

Mutation Nuc

 3637-3638insA

Original-final codons

 3637-3638insA

Affected domain

 B

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 312

 

   
 

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