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Hemophilia B mutations by type

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
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Mutation type Mutation effect Region Exon intron number Mutation Severity ID
SUSTITUTION MUTATION IN REGULATORY REGION PROMOTER - -6G>A MILD 19
SUSTITUTION MISSENSE EXON 1 8T>C SEVERE 759
SUSTITUTION MISSENSE EXON 1 111T>G MILD 17
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 8T>C SEVERE 474
SUSTITUTION MISSENSE EXON 1 111T>G MODERATE 38
SUSTITUTION MISSENSE EXON 1 48 ? 409
SUSTITUTION MISSENSE EXON 1 117G>A SEVERE 11
SUSTITUTION MISSENSE EXON 1 111T>G MILD 766
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 85T>G SEVERE 411
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 8T>C MILD 387
SUSTITUTION MISSENSE EXON 2 6424G>A ? 760
SUSTITUTION MISSENSE EXON 2 6394G>A ? 18
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 407
SUSTITUTION MISSENSE EXON 2 6364C>G MODERATE 764
SUSTITUTION MISSENSE EXON 2 6404T>A MODERATE 36
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 768
SUSTITUTION NONSENSE EXON 2 6383C>G MODERATE 37
SUSTITUTION MISSENSE EXON 2 6365G>A SEVERE 41
SUSTITUTION NONSENSE EXON 2 6460C>T SEVERE 4
SUSTITUTION MISSENSE EXON 2 6365G>A MILD 405
SUSTITUTION SPLICING ERROR INTRON 2 IVS2-2A>G SEVERE 369
SUSTITUTION MISSENSE EXON 3 6700T>C MILD 35
SUSTITUTION SPLICING ERROR INTRON 3 IVS3-3A>G SEVERE 10
SUSTITUTION MISSENSE EXON 4 10488G>T SEVERE 45
SUSTITUTION MISSENSE EXON 4 10403T>A ? 320
SUSTITUTION MISSENSE EXON 4 10487G>A SEVERE 30
SUSTITUTION MISSENSE EXON 4 10431G>A MODERATE 23
SUSTITUTION MISSENSE EXON 4 10430G>A ? 805
SUSTITUTION SPLICING ERROR INTRON 4 IVS4-9T>G ? 386
SUSTITUTION SPLICING ERROR INTRON 4 IVS4-9T>G MILD 14
SUSTITUTION MISSENSE EXON 5 17783C>G MILD 388
SUSTITUTION NONSENSE EXON 5 17761C>T ? 809
SUSTITUTION MISSENSE EXON 5 17755G>A ? 798
SUSTITUTION MISSENSE EXON 5 17796A>G MODERATE 31
SUSTITUTION MISSENSE EXON 5 17783C>G MILD 12
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 22
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 767
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 801
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 802
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 803
SUSTITUTION MISSENSE EXON 6 20413C>T SEVERE 404
SUSTITUTION MISSENSE EXON 6 20413C>T SEVERE 3
SUSTITUTION MISSENSE EXON 7 30150G>A MILD 16
SUSTITUTION MISSENSE EXON 7 30150G>A ? 39
SUSTITUTION MISSENSE EXON 7 30093A>T MILD 340
SUSTITUTION MISSENSE EXON 7 30039 MILD 412
SUSTITUTION MISSENSE EXON 7 30150G>A MILD 761
SUSTITUTION SPLICING ERROR INTRON 7 - SEVERE 21
SUSTITUTION MISSENSE EXON 8 31080C>A SEVERE 771
SUSTITUTION MISSENSE EXON 8 31008C>T MODERATE 25
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 473
SUSTITUTION MISSENSE EXON 8 31080C>T ? 20
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 758
SUSTITUTION MISSENSE EXON 8 31331T>A ? 763
SUSTITUTION MISSENSE EXON 8 31008C>T ? 765
SUSTITUTION MISSENSE EXON 8 30864G>A MODERATE 341
SUSTITUTION MISSENSE EXON 8 31254T>C SEVERE 769
SUSTITUTION MISSENSE EXON 8 31281A>C MODERATE 28
SUSTITUTION MISSENSE EXON 8 31254T>C MODERATE 799
SUSTITUTION MISSENSE EXON 8 31328C>T ? 800
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 30864G>A ? 807
SUSTITUTION MISSENSE EXON 8 30854G>A MILD 808
SUSTITUTION MISSENSE EXON 8 31326C>T MODERATE 2
SUSTITUTION NONSENSE EXON 8 30863C>T SEVERE 15
SUSTITUTION MISSENSE EXON 8 30869G>C MILD 397
SUSTITUTION MISSENSE EXON 8 31008C>T ? 342
SUSTITUTION MISSENSE EXON 8 31289G>T MODERATE 47
SUSTITUTION MISSENSE EXON 8 30864 MODERATE 46
SUSTITUTION MISSENSE EXON 8 31188G>A ? 343
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 NONSENSE EXON 8 31208G>T SEVERE 344
SUSTITUTION MISSENSE EXON 8 30980C>A ? 40
SUSTITUTION MISSENSE EXON 8 31278G>T SEVERE 26
SUSTITUTION MISSENSE EXON 8 31326C>G MILD 396
SUSTITUTION MISSENSE EXON 8 31278G>A SEVERE 27
SUSTITUTION MISSENSE EXON 8 31274T>C MILD 403
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 406
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 30864G>A MODERATE 408
SUSTITUTION MISSENSE EXON 8 31328 MILD 410
SUSTITUTION MISSENSE EXON 8 31176G>A ? 29
SUSTITUTION FRAMESHIFT EXON 8 31249C>GA SEVERE 1
SUSTITUTION MISSENSE EXON 8 31289G>T ? 389
   
 

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