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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 1 41delT SEVERE 151
DELETION FRAMESHIFT EXON 10 1487delC SEVERE 171
DELETION FRAMESHIFT EXON 11 1560delT SEVERE 250
DELETION AMINOACID DELETION EXON 13 2015-2017delTCT SEVERE 781
DELETION FRAMESHIFT EXON 14 4272delC SEVERE 84
DELETION FRAMESHIFT EXON 14 3053delA SEVERE 167
DELETION FRAMESHIFT EXON 14 - SEVERE 148
DELETION FRAMESHIFT EXON 14 4379delA SEVERE 211
DELETION FRAMESHIFT EXON 14 3637delA SEVERE 198
DELETION FRAMESHIFT EXON 14 - SEVERE 178
DELETION FRAMESHIFT EXON 14 3637delA SEVERE 345
DELETION FRAMESHIFT EXON 14 - SEVERE 225
DELETION FRAMESHIFT EXON 14 2409delT SEVERE 85
DELETION FRAMESHIFT EXON 14 3637delA SEVERE 127
DELETION FRAMESHIFT EXON 14 3637delA SEVERE 180
DELETION FRAMESHIFT EXON 14 3637delA SEVERE 199
DELETION FRAMESHIFT EXON 14 3994-3997delAGAG SEVERE 114
DELETION FRAMESHIFT EXON 14 3710delC SEVERE 51
DELETION FRAMESHIFT EXON 15 5226-5227delGA SEVERE 152
DELETION FRAMESHIFT EXON 15 - SEVERE 376
DELETION FRAMESHIFT EXON 15-21 - SEVERE 73
DELETION FRAMESHIFT EXON 19 6099delT SEVERE 183
DELETION FRAMESHIFT EXON 2 209-212delTTGT SEVERE 126
DELETION FRAMESHIFT EXON 20 6116-6117delAG SEVERE 304
DELETION FRAMESHIFT EXON 22 6320delG SEVERE 714
DELETION FRAMESHIFT EXON 23 6468-6469delAC SEVERE 245
DELETION FRAMESHIFT EXON 23 6494delC SEVERE 105
DELETION FRAMESHIFT EXON 2-3 - SEVERE 449
DELETION FRAMESHIFT EXON 2-4 - SEVERE 240
DELETION FRAMESHIFT EXON 25 - SEVERE 112
DELETION FRAMESHIFT EXON 25 6782delG SEVERE 392
DELETION FRAMESHIFT EXON 2-7 - SEVERE 703
DELETION FRAMESHIFT INTRON 4 IVS4+1delG SEVERE 701
DELETION FRAMESHIFT EXON 5 - SEVERE 287
DELETION FRAMESHIFT EXON 7 - SEVERE 413
DELETION FRAMESHIFT EXON 7-9 - SEVERE 159
DELETION FRAMESHIFT EXON 8-9 - SEVERE 268
DELETION FRAMESHIFT EXON 9 1326delC SEVERE 185
DUPLICATION FRAMESHIFT EXON 14 4113-4153dup SEVERE 147
INDEL FRAMESHIFT EXON 13 1923-1924delTGinsA SEVERE 281
INSERTION FRAMESHIFT EXON 14 5088-5089insT SEVERE 442
INSERTION FRAMESHIFT EXON 14 3615-3616insT SEVERE 443
INSERTION FRAMESHIFT EXON 14 4371-4372insA SEVERE 398
INSERTION FRAMESHIFT EXON 14 4379-4380insA SEVERE 233
INSERTION FRAMESHIFT EXON 14 3637-3638insA SEVERE 313
INSERTION FRAMESHIFT EXON 14 3637-3638insA SEVERE 312
INSERTION FRAMESHIFT EXON 14 2597-2598insT SEVERE 249
INSERTION FRAMESHIFT EXON 14 4339-4340insG SEVERE 120
INSERTION FRAMESHIFT EXON 14 4825-4826insA SEVERE 137
INSERTION FRAMESHIFT EXON 19 6087-6088insG SEVERE 173
INSERTION FRAMESHIFT EXON 22 6349insCA SEVERE 150
INSERTION FRAMESHIFT EXON 8 1171-1184dupCGCTCAGTTGCCAA SEVERE 677
INSERTION FRAMESHIFT EXON 8 1171-1184dupCGCTCAGTTGCCAA SEVERE 461
INSERTION FRAMESHIFT EXON 9 1342-1343InsA SEVERE 265
INTRON 1 INVERSION REARRANGEMENT - - - SEVERE 201
INTRON 1 INVERSION REARRANGEMENT - - - SEVERE 97
INTRON 1 INVERSION REARRANGEMENT - - - SEVERE 294
INTRON 1 INVERSION REARRANGEMENT - - - SEVERE 175
INTRON 1 INVERSION REARRANGEMENT - - - SEVERE 774
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 796
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 77
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 74
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 72
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 248
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 60
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 49
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 119
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 177
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 113
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 239
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 109
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 261
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 106
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 100
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 272
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 98
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 253
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 139
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 181
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 274
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 256
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 169
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 218
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 220
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 166
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 241
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 227
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 79
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 135
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 123
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 234
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 91
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 236
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 87
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 237
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 195
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 161
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 704
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 740
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 456
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 727
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 478
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 737
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 458
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 734
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 678
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 402
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 457
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 742
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 480
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 451
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 452
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 726
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 453
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 479
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 717
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 454
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 689
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 298
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 278
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 698
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 705
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 286
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 775
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 706
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 773
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 755
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 681
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 723
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 752
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 721
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 308
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 309
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 310
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 311
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 750
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 745
INTRON 22 INVERSIÓN REARRANGEMENT - - - SEVERE 291
SUSTITUTION MISSENSE EXON 1 3G>A SEVERE 715
SUSTITUTION MISSENSE EXON 11 1639T>C SEVERE 680
SUSTITUTION MISSENSE EXON 11 1639T>C SEVERE 463
SUSTITUTION MISSENSE EXON 12 1796A>T SEVERE 738
SUSTITUTION MISSENSE EXON 13 2063C>A SEVERE 336
SUSTITUTION MISSENSE EXON 13 1985G>C SEVERE 66
SUSTITUTION MISSENSE EXON 13 i 14 2072C>T, 5144G>A SEVERE 307
SUSTITUTION NONSENSE EXON 14 3175A>T SEVERE 140
SUSTITUTION NONSENSE EXON 14 4906C>T SEVERE 168
SUSTITUTION MISSENSE EXON 14 5122C>T SEVERE 189
SUSTITUTION MISSENSE EXON 14 2168C>A SEVERE 200
SUSTITUTION NONSENSE EXON 14 3145C>T SEVERE 441
SUSTITUTION MISSENSE EXON 14 5176T>C SEVERE 209
SUSTITUTION NONSENSE EXON 14 5143C>T SEVERE 730
SUSTITUTION NONSENSE EXON 14 4757G>A SEVERE 76
SUSTITUTION NONSENSE EXON 14 2246T>A SEVERE 338
SUSTITUTION MISSENSE EXON 14 5150A>G SEVERE 102
SUSTITUTION MISSENSE EXON 14 5144G>A SEVERE 784
SUSTITUTION NONSENSE EXON 14 5143C>T SEVERE 729
SUSTITUTION MISSENSE EXON 15 5345T>G SEVERE 122
SUSTITUTION NONSENSE EXON 16 5389C>T SEVERE 273
SUSTITUTION SPLICING ERROR INTRON 16 IVS16-1G>A SEVERE 143
SUSTITUTION MISSENSE EXON 17 5615G>A SEVERE 111
SUSTITUTION MISSENSE EXON 17 5711A>G SEVERE 163
SUSTITUTION MISSENSE EXON 18 5900G>A SEVERE 739
SUSTITUTION NONSENSE EXON 18 5985C>A SEVERE 172
SUSTITUTION NONSENSE EXON 18 5878C>T SEVERE 187
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 438
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 284
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 104
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 382
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 78
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 699
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 204
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 89
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 90
SUSTITUTION MISSENSE EXON 19 6046C>T SEVERE 121
SUSTITUTION MISSENSE EXON 19 6047G>C SEVERE 145
SUSTITUTION SPLICING ERROR INTRON 19 IVS19+6T>A SEVERE 144
SUSTITUTION SPLICING ERROR INTRON 19 IVS19-1G>A SEVERE 317
SUSTITUTION NONSENSE EXON 22 6385A>T SEVERE 86
SUSTITUTION MISSENSE EXON 22 6317A>C SEVERE 358
SUSTITUTION NONSENSE EXON 22 6403C>T SEVERE 724
SUSTITUTION NONSENSE EXON 22 6403C>T SEVERE 306
SUSTITUTION MISSENSE EXON 23 6506G>A SEVERE 197
SUSTITUTION MISSENSE EXON 23 6545G>A SEVERE 425
SUSTITUTION MISSENSE EXON 23 6506G>A SEVERE 59
SUSTITUTION MISSENSE EXON 23 6506G>A SEVERE 82
SUSTITUTION MISSENSE EXON 23 6545G>A SEVERE 219
SUSTITUTION MISSENSE EXON 23 6544C>T SEVERE 708
SUSTITUTION SPLICING ERROR INTRON 23 IVS23+5G>C SEVERE 116
SUSTITUTION NONSENSE EXON 24 6635C>A SEVERE 170
SUSTITUTION MISSENSE EXON 24 6683G>A SEVERE 423
SUSTITUTION NONSENSE EXON 26 6976C>T SEVERE 275
SUSTITUTION NONSENSE EXON 26 6976C>T SEVERE 252
SUSTITUTION MISSENSE EXON 26 7031G>A SEVERE 65
SUSTITUTION MISSENSE EXON 4 494C>T SEVERE 80
SUSTITUTION MISSENSE EXON 4 577G>A SEVERE 93
SUSTITUTION MISSENSE EXON 4 494C>T SEVERE 288
SUSTITUTION MISSENSE EXON 5 665A>G SEVERE 263
SUSTITUTION SPLICING ERROR INTRON 5 IVS5-3C>G SEVERE 315
SUSTITUTION MISSENSE EXON 6 677G>T SEVERE 176
SUSTITUTION SPLICING ERROR INTRON 6 IVS6+1G>A SEVERE 266
SUSTITUTION MISSENSE EXON 7 901C>T SEVERE 205
SUSTITUTION MISSENSE EXON 7 902G>A SEVERE 753
SUSTITUTION MISSENSE EXON 7 901C>T SEVERE 436
SUSTITUTION NONSENSE EXON 7 796G>T SEVERE 744
SUSTITUTION NONSENSE EXON 7 904C>T SEVERE 741
SUSTITUTION MISSENSE EXON 7 902G>A SEVERE 52
SUSTITUTION MISSENSE EXON 7 968G>A SEVERE 141
SUSTITUTION NONSENSE EXON 7 904C>T SEVERE 685
SUSTITUTION NONSENSE EXON 7 904C>T SEVERE 464
SUSTITUTION SPLICING ERROR INTRON 7 IVS7+1G>A SEVERE 257
SUSTITUTION MISSENSE EXON 8 1171C>T SEVERE 124
SUSTITUTION NONSENSE EXON 8 1202G>A SEVERE 267
SUSTITUTION NONSENSE EXON 8 1175C>G SEVERE 174
SUSTITUTION MISSENSE EXON 8 1171C>T SEVERE 83
SUSTITUTION MISSENSE EXON 9 1363T>A SEVERE 393
SUSTITUTION MISSENSE EXON 9 1315G>T SEVERE 716
SUSTITUTION NONSENSE EXON 9 1336C>T SEVERE 747
   
 

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