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Hemophilia A mutations by severity

Mutations by region
exon_26 intron_25 exon_25 intron_24 exon_24 intron_23 exon_23 intron_22 exon_22 intron_21 exon_21 intron_20 exon_20 intron_19 exon_19 intron_18 exon_18 intron_17 exon_17 intron_16 exon_16 intron_15 exon_15 intron_14 exon_14 intron_13 exon_13 intron_12 exon_12 intron_11 exon_11 intron_10 exon_10 intron_9 exon_9 intron_8 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 promotor

Press on the corresponding genic region  to see the  mutations included in the database.

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Mutacions by type
Deletions
Duplications
Indels
Insertions
Inversions
Sustitutions
   
Intron 22 inversion
Intron 1 inversion
Mutacions by severity
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Mutation type Mutation effect Region Exon intron number Mutation Severity ID
DELETION FRAMESHIFT EXON 11 - MODERATE 466
DELETION FRAMESHIFT EXON 11 - MODERATE 682
DELETION FRAMESHIFT EXON 14 3637delA MODERATE 115
DELETION FRAMESHIFT EXON 8 1220delC MODERATE 210
INSERTION FRAMESHIFT EXON 14 3870-3871insA MODERATE 70
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 400
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 401
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 314
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 305
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 290
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 271
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 262
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 160
INTRON 22 INVERSIÓN REARRANGEMENT - - - MODERATE 136
INVERSION MISSENSE EXON 13 2077_2078inv MODERATE 216
SUSTITUTION NONSENSE EXON 1 43C>T MODERATE 346
SUSTITUTION MISSENSE EXON 1 65G>T MODERATE 697
SUSTITUTION MISSENSE EXON 10 1492G>A MODERATE 794
SUSTITUTION MISSENSE EXON 10 1492G>A MODERATE 264
SUSTITUTION MISSENSE EXON 11 1639T>C MODERATE 329
SUSTITUTION MISSENSE EXON 11 1588T>A MODERATE 326
SUSTITUTION MISSENSE EXON 11 1688C>G MODERATE 134
SUSTITUTION MISSENSE EXON 11 1648C>T MODERATE 378
SUSTITUTION MISSENSE EXON 13 1934A>C MODERATE 259
SUSTITUTION MISSENSE EXON 13 2095A>T MODERATE 692
SUSTITUTION MISSENSE EXON 13 2095A>T MODERATE 247
SUSTITUTION MISSENSE EXON 14 5122C>T MODERATE 62
SUSTITUTION MISSENSE EXON 14 5168A>G MODERATE 447
SUSTITUTION MISSENSE EXON 15 5252A>G MODERATE 782
SUSTITUTION MISSENSE EXON 16 5399G>A MODERATE 352
SUSTITUTION MISSENSE EXON 16 5399G>A MODERATE 433
SUSTITUTION MISSENSE EXON 16 5425A>T MODERATE 444
SUSTITUTION MISSENSE EXON 16 5564C>A MODERATE 164
SUSTITUTION MISSENSE EXON 16 5399G>A MODERATE 424
SUSTITUTION NONSENSE EXON 18 5878C>T MODERATE 92
SUSTITUTION MISSENSE EXON 18 5879G>A MODERATE 693
SUSTITUTION MISSENSE EXON 18 5853A>C MODERATE 295
SUSTITUTION MISSENSE EXON 19 6046C>T MODERATE 56
SUSTITUTION MISSENSE EXON 19 6113A>G MODERATE 292
SUSTITUTION MISSENSE EXON 2 248c>G MODERATE 722
SUSTITUTION MISSENSE EXON 20 6172G>C MODERATE 191
SUSTITUTION MISSENSE EXON 21 6212C>G MODERATE 446
SUSTITUTION MISSENSE EXON 22 6301C>G MODERATE 679
SUSTITUTION MISSENSE EXON 22 6301C>G MODERATE 462
SUSTITUTION MISSENSE EXON 23 6506G>A MODERATE 362
SUSTITUTION MISSENSE EXON 23 6463A>G MODERATE 359
SUSTITUTION MISSENSE EXON 23 6545G>A MODERATE 130
SUSTITUTION MISSENSE EXON 26 7022A>G MODERATE 694
SUSTITUTION MISSENSE EXON 26 6904T>G MODERATE 222
SUSTITUTION MISSENSE EXON 4 463T>C MODERATE 431
SUSTITUTION MISSENSE EXON 5 668A>C MODERATE 718
SUSTITUTION SPLICING ERROR INTRON 6 IVS6+3A>G MODERATE 316
   
 

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