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Full registy entry

Patient Id

 UMHB0079

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 7

Affected Codon

 214

Affected nucleotide

 30093

Mutation AA

 K214X

Mutation Nuc

 30093A>T

Original-final codons

 AAA>TAA

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MILD

FactorC(%)

 10

FactorAg(%)

 -

Origin

  

ID

 340

 

   
 

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