Full registry entry

Patient Id

Inhibitors

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1272

Affected nucleotide

 -

Mutation AA

 FRAMESHIFT

Mutation Nuc

 3870-3871insA

Original-final codons

 1 bp (A in 7As at codons 1269-71)

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MODERATE

FactorC(%)

 2

FactorAg(%)

 -

Origin

ID

 70