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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
DELETION REARRANGEMENT - - - SEVERE 804
DELETION TOTAL GENE LACK - 1-8 - SEVERE 318
DELETION TOTAL GENE LACK - 1-8 - SEVERE 9
DELETION TOTAL GENE LACK - 1-8 - SEVERE 319
DELETION   EXON 2 6394delG SEVERE 472
DELETION FRAMESHIFT EXON 2 6394delG SEVERE 757
DELETION FRAMESHIFT EXON 5-8 - SEVERE 13
DELETION AMINOACID DELETION EXON 8 31113-31115delTTG SEVERE 8
SUSTITUTION MISSENSE EXON 1 117G>A SEVERE 11
SUSTITUTION MISSENSE EXON 1 85T>G SEVERE 411
SUSTITUTION MUTATION IN REGULATORY REGION EXON 1 8T>C SEVERE 474
SUSTITUTION MISSENSE EXON 1 8T>C SEVERE 759
SUSTITUTION MISSENSE EXON 2 6365G>A SEVERE 41
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 768
SUSTITUTION NONSENSE EXON 2 6460C>T SEVERE 4
SUSTITUTION MISSENSE EXON 2 6364C>T SEVERE 407
SUSTITUTION SPLICING ERROR INTRON 2 IVS2-2A>G SEVERE 369
SUSTITUTION SPLICING ERROR INTRON 3 IVS3-3A>G SEVERE 10
SUSTITUTION MISSENSE EXON 4 10488G>T SEVERE 45
SUSTITUTION MISSENSE EXON 4 10487G>A SEVERE 30
SUSTITUTION MISSENSE EXON 6 20413C>T SEVERE 404
SUSTITUTION MISSENSE EXON 6 20413C>T SEVERE 3
SUSTITUTION SPLICING ERROR INTRON 7 - SEVERE 21
SUSTITUTION NONSENSE EXON 8 30875C>T SEVERE 5
SUSTITUTION NONSENSE EXON 8 30863C>T SEVERE 15
SUSTITUTION MISSENSE EXON 8 31278G>T SEVERE 26
SUSTITUTION MISSENSE EXON 8 31278G>A SEVERE 27
SUSTITUTION MISSENSE EXON 8 31034G>C SEVERE 33
SUSTITUTION FRAMESHIFT EXON 8 31249C>GA SEVERE 1
SUSTITUTION MISSENSE EXON 8 30864G>A SEVERE 44
SUSTITUTION NONSENSE EXON 8 31208G>T SEVERE 344
SUSTITUTION MISSENSE EXON 8 31254T>C SEVERE 769
SUSTITUTION MISSENSE EXON 8 31080C>A SEVERE 771
SUSTITUTION MISSENSE EXON 8 31278G>T SEVERE 34
   
 

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