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Hemophilia B mutations by severity

Mutation 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
SUSTITUTION MUTATION IN REGULATORY REGION PROMOTER - -6G>A MILD 19
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 8T>C MILD 387
SUSTITUTION MISSENSE EXON 1 111T>G MILD 17
SUSTITUTION MISSENSE EXON 1 111T>G MILD 321
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 7T>C MILD 385
SUSTITUTION MISSENSE EXON 1 111T>G MILD 766
SUSTITUTION MISSENSE EXON 2 6365G>A MILD 405
SUSTITUTION MISSENSE EXON 3 6700T>C MILD 35
SUSTITUTION SPLICING ERROR INTRON 4 IVS4-9T>G MILD 14
SUSTITUTION MISSENSE EXON 5 17783C>G MILD 12
SUSTITUTION MISSENSE EXON 5 17783C>G MILD 388
SUSTITUTION MISSENSE EXON 7 30093A>T MILD 340
SUSTITUTION MISSENSE EXON 7 30150G>A MILD 16
SUSTITUTION MISSENSE EXON 7 30150G>A MILD 761
SUSTITUTION MISSENSE EXON 7 30039 MILD 412
SUSTITUTION MISSENSE EXON 8 30864G>A MILD 7
SUSTITUTION MISSENSE EXON 8 31328C>T MILD 42
SUSTITUTION MISSENSE EXON 8 30980C>A MILD 6
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 473
SUSTITUTION MISSENSE EXON 8 30854G>A MILD 808
SUSTITUTION MISSENSE EXON 8 31326C>G MILD 396
SUSTITUTION MISSENSE EXON 8 30869G>C MILD 397
SUSTITUTION MISSENSE EXON 8 31274T>C MILD 403
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 406
SUSTITUTION MISSENSE EXON 8 31328 MILD 410
SUSTITUTION MISSENSE EXON 8 31008C>T MILD 758
   
 

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