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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
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Mutation type Mutation effect Region Exon intron number Mutation Severity ID
SUSTITUTION MISSENSE EXON 1 111T>G MILD 766
SUSTITUTION MISSENSE EXON 1 8T>C SEVERE 759
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 8T>C SEVERE 474
SUSTITUTION MISSENSE EXON 1 85T>G SEVERE 411
SUSTITUTION MISSENSE EXON 1 48 ? 409
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 8T>C MILD 387
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 7T>C MILD 385
SUSTITUTION MISSENSE EXON 1 117 ? 322
SUSTITUTION MISSENSE EXON 1 111T>G MILD 321
SUSTITUTION MISSENSE EXON 1 111T>G MODERATE 38
SUSTITUTION MISSENSE EXON 1 111T>G MILD 17
SUSTITUTION MISSENSE EXON 1 117G>A SEVERE 11
   
 

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