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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
Severe

Moderate
Mild

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Mutation type Mutation effect Region Exon intron number Mutation Severity ID
DELETION   EXON 4 10479-10484del ? 806
INSERTION FRAMESHIFT INTRON 7 30802-30803InsA ? 762
SUSTITUTION MISSENSE EXON 1 48 ? 409
SUSTITUTION MISSENSE EXON 1 117 ? 322
SUSTITUTION MISSENSE EXON 2 6394G>A ? 18
SUSTITUTION MISSENSE EXON 2 6424G>A ? 760
SUSTITUTION MISSENSE EXON 4 10403T>A ? 320
SUSTITUTION MISSENSE EXON 4 10430G>A ? 805
SUSTITUTION SPLICING ERROR INTRON 4 IVS4-9T>G ? 386
SUSTITUTION NONSENSE EXON 5 17761C>T ? 809
SUSTITUTION MISSENSE EXON 5 17755G>A ? 798
SUSTITUTION MISSENSE EXON 7 30150G>A ? 39
SUSTITUTION MISSENSE EXON 8 31331T>A ? 763
SUSTITUTION MISSENSE EXON 8 31008C>T ? 765
SUSTITUTION MISSENSE EXON 8 31188G>A ? 343
SUSTITUTION MISSENSE EXON 8 31008C>T ? 342
SUSTITUTION MISSENSE EXON 8 31328C>T ? 800
SUSTITUTION MISSENSE EXON 8 30864G>A ? 807
SUSTITUTION MISSENSE EXON 8 30980C>A ? 40
SUSTITUTION MISSENSE EXON 8 31176G>A ? 29
SUSTITUTION MISSENSE EXON 8 31080C>T ? 20
SUSTITUTION MISSENSE EXON 8 31289G>T ? 389
   
 

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