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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 SPLICING ERROR INTRON 2 IVS2+3-6delGAGT MODERATE 360
SUSTITUTION MISSENSE EXON 1 111T>G MODERATE 38
SUSTITUTION MISSENSE EXON 2 6364C>G MODERATE 764
SUSTITUTION NONSENSE EXON 2 6383C>G MODERATE 37
SUSTITUTION MISSENSE EXON 2 6404T>A MODERATE 36
SUSTITUTION MISSENSE EXON 4 10431G>A MODERATE 23
SUSTITUTION MISSENSE EXON 5 17796A>G MODERATE 31
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 802
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 801
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 22
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 767
SUSTITUTION MISSENSE EXON 6 20413C>T MODERATE 803
SUSTITUTION MISSENSE EXON 8 31008C>T MODERATE 25
SUSTITUTION MISSENSE EXON 8 31281A>C MODERATE 28
SUSTITUTION MISSENSE EXON 8 31223C>A MODERATE 32
SUSTITUTION MISSENSE EXON 8 31326C>T MODERATE 2
SUSTITUTION MISSENSE EXON 8 30864 MODERATE 46
SUSTITUTION MISSENSE EXON 8 31289G>T MODERATE 47
SUSTITUTION MISSENSE EXON 8 30864G>A MODERATE 341
SUSTITUTION MISSENSE EXON 8 30864G>A MODERATE 408
SUSTITUTION MISSENSE EXON 8 31254T>C MODERATE 799
SUSTITUTION MISSENSE EXON 8 31008C>T MODERATE 43
   
 

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