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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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Mutations by severity
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Mutation type Mutation effect Region Exon intron number Mutation Severity ID
DELETION AMINOACID DELETION EXON 8 31113-31115delTTG SEVERE 8
SUSTITUTION MISSENSE EXON 8 31278G>T SEVERE 26
SUSTITUTION MISSENSE EXON 8 30864G>A SEVERE 44
SUSTITUTION MISSENSE EXON 8 31008C>T MODERATE 43
SUSTITUTION MISSENSE EXON 8 31328C>T MILD 42
SUSTITUTION MISSENSE EXON 8 30980C>A ? 40
SUSTITUTION MISSENSE EXON 8 31278G>T SEVERE 34
SUSTITUTION MISSENSE EXON 8 31034G>C SEVERE 33
SUSTITUTION MISSENSE EXON 8 31223C>A MODERATE 32
SUSTITUTION MISSENSE EXON 8 31176G>A ? 29
SUSTITUTION FRAMESHIFT EXON 8 31249C>GA SEVERE 1
SUSTITUTION MISSENSE EXON 8 31278G>A SEVERE 27
SUSTITUTION MISSENSE EXON 8 30864G>A MODERATE 341
SUSTITUTION MISSENSE EXON 8 31008C>T MODERATE 25
SUSTITUTION MISSENSE EXON 8 31080C>T ? 20
SUSTITUTION NONSENSE EXON 8 30863C>T SEVERE 15
SUSTITUTION MISSENSE EXON 8 30864G>A MILD 7
SUSTITUTION MISSENSE EXON 8 30980C>A MILD 6
SUSTITUTION NONSENSE EXON 8 30875C>T SEVERE 5
SUSTITUTION MISSENSE EXON 8 31326C>T MODERATE 2
SUSTITUTION MISSENSE EXON 8 31281A>C MODERATE 28
SUSTITUTION MISSENSE EXON 8 30864G>A MODERATE 408
SUSTITUTION MISSENSE EXON 8 30864G>A ? 807
SUSTITUTION MISSENSE EXON 8 31328C>T ? 800
SUSTITUTION MISSENSE EXON 8 31254T>C MODERATE 799
SUSTITUTION MISSENSE EXON 8 31080C>A SEVERE 771
SUSTITUTION MISSENSE EXON 8 31254T>C SEVERE 769
SUSTITUTION MISSENSE EXON 8 31008C>T ? 765
SUSTITUTION MISSENSE EXON 8 31331T>A ? 763
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 758
SUSTITUTION MISSENSE EXON 8 30864 MODERATE 46
SUSTITUTION MISSENSE EXON 8 31328 MILD 410
SUSTITUTION MISSENSE EXON 8 31289G>T MODERATE 47
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 406
SUSTITUTION MISSENSE EXON 8 31274T>C MILD 403
SUSTITUTION MISSENSE EXON 8 30869G>C MILD 397
SUSTITUTION MISSENSE EXON 8 31326C>G MILD 396
SUSTITUTION MISSENSE EXON 8 31289G>T ? 389
SUSTITUTION NONSENSE EXON 8 31208G>T SEVERE 344
SUSTITUTION MISSENSE EXON 8 31188G>A ? 343
SUSTITUTION MISSENSE EXON 8 31008C>T ? 342
SUSTITUTION MISSENSE EXON 8 30854G>A MILD 808
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 473
   
 

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