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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 AMINOACID DELETION EXON 11 1611-1613delAGA MILD 787
DELETION FRAMESHIFT EXON 14 4380delT MILD 347
DELETION SPLICING ERROR INTRON 2 IVS2-3delC MILD 395
DELETION SPLICING ERROR INTRON 5 IVS 5 -17 -28 del(ACTCTATCTTTG) MILD 235
INSERTION FRAMESHIFT EXON 14 3637-3638insA MILD 675
INSERTION FRAMESHIFT EXON 7 883-884Ins CAT MILD 728
SUSTITUTION MISSENSE EXON 1 65G>T MILD 361
SUSTITUTION MISSENSE EXON 1 65G>T MILD 207
SUSTITUTION MISSENSE EXON 1 65G>T MILD 297
SUSTITUTION MISSENSE EXON 1 65G>T MILD 428
SUSTITUTION MISSENSE EXON 10 1492G>A MILD 467
SUSTITUTION MISSENSE EXON 10 1492G>A MILD 683
SUSTITUTION MISSENSE EXON 10 1492G>A MILD 153
SUSTITUTION MISSENSE EXON 10 1492G>A MILD 700
SUSTITUTION MISSENSE EXON 11 1569G>T MILD 324
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 214
SUSTITUTION MISSENSE EXON 11 1569G>T MILD 325
SUSTITUTION MISSENSE EXON 11 1636C>T MILD 327
SUSTITUTION MISSENSE EXON 11 1636C>T MILD 328
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 437
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 103
SUSTITUTION MISSENSE EXON 11 1569G>T MILD 231
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 269
SUSTITUTION MISSENSE EXON 11 1649G>A MILD 432
SUSTITUTION MISSENSE EXON 11 1649G>A MILD 279
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 95
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 117
SUSTITUTION MISSENSE EXON 11 1569G>T MILD 793
SUSTITUTION MISSENSE EXON 11 1636C>T MILD 55
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 380
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 88
SUSTITUTION MISSENSE EXON 11 1649G>A MILD 190
SUSTITUTION MISSENSE EXON 11 1569G>T MILD 125
SUSTITUTION MISSENSE EXON 11 1569G>T MILD 129
SUSTITUTION MISSENSE EXON 11 1726G>A MILD 179
SUSTITUTION MISSENSE EXON 11 1648C>T MILD 418
SUSTITUTION MISSENSE EXON 11 1711C>T MILD 736
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 333
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 732
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 332
SUSTITUTION MISSENSE EXON 12 1825A>G MILD 331
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 334
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 118
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 383
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 790
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 384
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 221
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 162
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 420
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 426
SUSTITUTION MISSENSE EXON 12 1834C>T MILD 142
SUSTITUTION MISSENSE EXON 12 1898T>G MILD 445
SUSTITUTION MISSENSE EXON 13 1916A>G MILD 335
SUSTITUTION MISSENSE EXON 13 1930T>G MILD 299
SUSTITUTION MISSENSE EXON 13 2059C>T MILD 276
SUSTITUTION MISSENSE EXON 13 2108A>G MILD 238
SUSTITUTION MISSENSE EXON 13 2087C>A MILD 791
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 296
SUSTITUTION MISSENSE EXON 14 2167G>A MILD 337
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 349
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 232
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 149
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 348
SUSTITUTION MISSENSE EXON 14 5127C>A MILD 146
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 71
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 50
SUSTITUTION MISSENSE EXON 14 5123G>A MILD 251
SUSTITUTION MISSENSE EXON 14 2167G>A MILD 686
SUSTITUTION MISSENSE EXON 14 5144G>A MILD 702
SUSTITUTION MISSENSE EXON 14 5096A>T MILD 416
SUSTITUTION MISSENSE EXON 14 2167G>A MILD 469
SUSTITUTION MISSENSE EXON 15 5305G>A MILD 94
SUSTITUTION MISSENSE EXON 15 5305G>A MILD 351
SUSTITUTION MISSENSE EXON 15 5324T>C MILD 394
SUSTITUTION MISSENSE EXON 15 5305G>A MILD 475
SUSTITUTION MISSENSE EXON 15 5305G>A MILD 421
SUSTITUTION MISSENSE EXON 15 5305G>A MILD 770
SUSTITUTION MISSENSE EXON 16 5531C>T MILD 353
SUSTITUTION MISSENSE EXON 16 5526G>A MILD 302
SUSTITUTION MISSENSE EXON 16 5527G>A MILD 223
SUSTITUTION MISSENSE EXON 16 5405A>G MILD 277
SUSTITUTION MISSENSE EXON 17 5656C>A MILD 776
SUSTITUTION MISSENSE EXON 17 - MILD 448
SUSTITUTION MISSENSE EXON 18 5879G>A MILD 283
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 439
SUSTITUTION MISSENSE EXON 18 5879G>A MILD 155
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 390
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 138
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 224
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 258
SUSTITUTION MISSENSE EXON 18 5944T>C MILD 246
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 53
SUSTITUTION MISSENSE EXON 18 5896A>G MILD 778
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 96
SUSTITUTION MISSENSE EXON 18 5936G>A MILD 354
SUSTITUTION MISSENSE EXON 18 5954G>A MILD 355
SUSTITUTION MISSENSE EXON 18 5936G>A MILD 132
SUSTITUTION MISSENSE EXON 19 6113A>G MILD 735
SUSTITUTION MISSENSE EXON 19 6066C>T MILD 795
SUSTITUTION MISSENSE EXON 19 6113A>G MILD 381
SUSTITUTION MISSENSE EXON 19 - MILD 696
SUSTITUTION MISSENSE EXON 19 6047G>A MILD 54
SUSTITUTION SPLICING ERROR INTRON 19 IVS19+9C>G MILD 217
SUSTITUTION MISSENSE EXON 19 i 23 6047G>T, 6568T>G MILD 131
SUSTITUTION MISSENSE EXON 2 248C>G MILD 339
SUSTITUTION MISSENSE EXON 20 6118T>G MILD 196
SUSTITUTION MISSENSE EXON 20 6175T>C MILD 779
SUSTITUTION MISSENSE EXON 20 6175T>C MILD 356
SUSTITUTION MISSENSE EXON 20 6179G>T MILD 303
SUSTITUTION MISSENSE EXON 22 6301C>G MILD 357
SUSTITUTION MISSENSE EXON 22 6301C>G MILD 415
SUSTITUTION MISSENSE EXON 22 6428T>C MILD 301
SUSTITUTION MISSENSE EXON 22 6427A>G MILD 792
SUSTITUTION MISSENSE EXON 23 6463A>G MILD 157
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 61
SUSTITUTION MISSENSE EXON 23 6463A>G MILD 709
SUSTITUTION MISSENSE EXON 23 6463A>G MILD 165
SUSTITUTION MISSENSE EXON 23 6504G>A MILD 711
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 754
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 133
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 110
SUSTITUTION MISSENSE EXON 23 6463A>G MILD 254
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 156
SUSTITUTION MISSENSE EXON 23 6532C>T MILD 684
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 419
SUSTITUTION MISSENSE EXON 23 2150G>A MILD 470
SUSTITUTION MISSENSE EXON 23 6532C>T MILD 364
SUSTITUTION MISSENSE EXON 23 6463A>G MILD 422
SUSTITUTION MISSENSE EXON 23 6532C>T MILD 468
SUSTITUTION MISSENSE EXON 23 6506G>A MILD 430
SUSTITUTION MISSENSE EXON 23 2150G>A MILD 688
SUSTITUTION MISSENSE EXON 23 6545G>A MILD 391
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 427
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 213
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 440
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 193
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 429
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 184
SUSTITUTION MISSENSE EXON 24 6623A>G MILD 186
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 743
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 749
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 797
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 365
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 289
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 366
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 367
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 368
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 57
SUSTITUTION MISSENSE EXON 24 6683G>A MILD 372
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 260
SUSTITUTION MISSENSE EXON 24 6622C>G MILD 719
SUSTITUTION MISSENSE EXON 25 6750A>C MILD 154
SUSTITUTION MISSENSE EXON 26 6904T>G MILD 417
SUSTITUTION MISSENSE EXON 26 6956C>T MILD 373
SUSTITUTION MISSENSE EXON 26 6904T>G MILD 435
SUSTITUTION MISSENSE EXON 3 355G>C MILD 208
SUSTITUTION MISSENSE EXON 4 523T>C MILD 350
SUSTITUTION MISSENSE EXON 4 541G>A MILD 379
SUSTITUTION MISSENSE EXON 4 545A>G MILD 690
SUSTITUTION MISSENSE EXON 4 436A>G MILD 270
SUSTITUTION MISSENSE EXON 4 575T>C MILD 772
SUSTITUTION MISSENSE EXON 4 555A>T MILD 228
SUSTITUTION MISSENSE EXON 4 545A>G MILD 471
SUSTITUTION SPLICING ERROR INTRON 4 IVS4-11T>G MILD 48
SUSTITUTION MISSENSE EXON 5 645A>G MILD 226
SUSTITUTION MISSENSE EXON 5 659T>G MILD 780
SUSTITUTION MISSENSE EXON 5 659T>G MILD 300
SUSTITUTION MISSENSE EXON 5 668A>G MILD 731
SUSTITUTION MISSENSE EXON 5 659T>G MILD 158
SUSTITUTION MISSENSE EXON 6 733C>T MILD 375
SUSTITUTION SPLICING ERROR INTRON 6 IVS6-8C>G MILD 215
SUSTITUTION MISSENSE EXON 7 923C>T MILD 751
SUSTITUTION MISSENSE EXON 7 923C>T MILD 434
SUSTITUTION SPLICING ERROR INTRON 7 IVS+3A>C MILD 707
SUSTITUTION MISSENSE EXON 8 1244C>T MILD 785
SUSTITUTION MISSENSE EXON 8 1195A>G MILD 255
SUSTITUTION MISSENSE EXON 9 1372C>T MILD 789
SUSTITUTION MISSENSE EXON 9 1372C>T MILD 323
SUSTITUTION MISSENSE EXON 9 1372C>T MILD 282
   
 

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