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Hemophilia B mutations by region

Mutations by region
exon_8 intron_7 exon_7 intron_6 exon_6 intron_5 exon_5 intron_4 exon_4 intron_3 exon_3 intron_2 exon_2 intron_1 exon_1
Press on the corresponding genic region  to see the  mutations included in the database.

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Mutations by type
Deletions
Duplications
Insertions
Sustitutions
Mutations by severity
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Mutation type Mutation effect Region Exon intron number Mutation Severity ID
DELETION FRAMESHIFT EXON 2 6394delG SEVERE 757
DELETION   EXON 2 6394delG SEVERE 472
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 768
SUSTITUTION MISSENSE EXON 2 6364C>G MODERATE 764
SUSTITUTION MISSENSE EXON 2 6424G>A ? 760
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 407
SUSTITUTION MISSENSE EXON 2 6365G>A MILD 405
SUSTITUTION MISSENSE EXON 2 6365G>A SEVERE 41
SUSTITUTION NONSENSE EXON 2 6383C>G MODERATE 37
SUSTITUTION MISSENSE EXON 2 6404T>A MODERATE 36
SUSTITUTION MISSENSE EXON 2 6394G>A ? 18
SUSTITUTION NONSENSE EXON 2 6460C>T SEVERE 4
   
 

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