Full registry entry

Patient Id

Inhibitors

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1428

Affected nucleotide

 -

Mutation AA

 FRAMESHIFT

Mutation Nuc

 4339-4340insG

Original-final codons

 1bp (G in 4Gs at codon 1428)

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 120