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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 14 4672-4675delAACA ? 229
DELETION FRAMESHIFT EXON 14 3637delA ? 748
DELETION FRAMESHIFT EXON 8 1220delC ? 202
INSERTION FRAMESHIFT EXON 14 3637-3638insA ? 460
INSERTION FRAMESHIFT EXON 14 3637-3638insA ? 676
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 230
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 285
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 244
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 192
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 194
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 777
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 107
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 108
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 293
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 450
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 455
INTRON 22 INVERSIÓN REARRANGEMENT - - - ? 459
SUSTITUTION MISSENSE EXON 10 1462G>A ? 242
SUSTITUTION SPLICING ERROR INTRON 10 IVS10+10C>G ? 280
SUSTITUTION MISSENSE EXON 11 1648C>T ? 788
SUSTITUTION MISSENSE EXON 11 1706C>G ? 786
SUSTITUTION MISSENSE EXON 12 1834C>T ? 188
SUSTITUTION NONSENSE EXON 12 1804C>T ? 330
SUSTITUTION NONSENSE EXON 14 4757G>A ? 691
SUSTITUTION NONSENSE EXON 14 3289C>T ? 58
SUSTITUTION NONSENSE EXON 14 2440C>T ? 414
SUSTITUTION NONSENSE EXON 14 4561C>T ? 733
SUSTITUTION NONSENSE EXON 14 4757G>A ? 476
SUSTITUTION NONSENSE EXON 16 5507G>A ? 212
SUSTITUTION MISSENSE EXON 16 5428T>C ? 710
SUSTITUTION MISSENSE EXON 16 5527G>A ? 725
SUSTITUTION MISSENSE EXON 17 5708A>T ? 377
SUSTITUTION MISSENSE EXON 18 5954G>A ? 746
SUSTITUTION MISSENSE EXON 22 6374G>C ? 465
SUSTITUTION MISSENSE EXON 22 6374G>C ? 687
SUSTITUTION MISSENSE EXON 23 6520C>G ? 363
SUSTITUTION MISSENSE EXON 23 6506G>A ? 63
SUSTITUTION NONSENSE EXON 24 6682C>T ? 370
SUSTITUTION MISSENSE EXON 24 6683G>A ? 371
SUSTITUTION MISSENSE EXON 26 6905T>C ? 712
SUSTITUTION MISSENSE EXON 26 6967C>T ? 374
SUSTITUTION MISSENSE EXON 4 494C>T ? 756
SUSTITUTION MISSENSE EXON 4 396A>C ? 182
SUSTITUTION MISSENSE EXON 7 871G>A ? 69
SUSTITUTION MISSENSE EXON 7 871G>A ? 713
SUSTITUTION MISSENSE EXON 9 1372C>T ? 695
SUSTITUTION MISSENSE EXON 9 1349A>G ? 783
SUSTITUTION SPLICING ERROR INTRON 9 IVS9+2T>G ? 720
   
 

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