von Willebrand factor A domain containing 8 (VWA8) - coding DNA reference sequence

(used for variant description)

(last modified October 23, 2023)


This file was created to facilitate the description of sequence variants on transcript NM_015058.1 in the VWA8 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000013.10, covering VWA8 transcript NM_015058.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5010
                                                   cacggtgcct       c.-61

 .         .         .         .         .         .                g.5070
 gcacgggacgccgctcgatccccgagccccctcgccgtccccgacagcccccccggcgcc       c.-1

          .         .         .         .         .         .       g.5130
 ATGCAATCCCGGCTTCTACTCCTCGGGGCACCCGGAGGCCACGGCGGCCCGGCCTCGCGG       c.60
 M  Q  S  R  L  L  L  L  G  A  P  G  G  H  G  G  P  A  S  R         p.20

          .         .         .         .         .         .       g.5190
 CGCATGCGGCTGCTCCTGCGGCAGGTGGTGCAGCGCAGGCCGGGTGGCGACAGGCAGCGG       c.120
 R  M  R  L  L  L  R  Q  V  V  Q  R  R  P  G  G  D  R  Q  R         p.40

          .         .         .         .    | 02    .         .    g.16089
 CCGGAGGTCAGACTGTTGCACGCCGGCTCGGGGGCCGACACAG | GTGATACAGTTAATATT    c.180
 P  E  V  R  L  L  H  A  G  S  G  A  D  T  G |   D  T  V  N  I      p.60

          .         .         .         .         .         .       g.16149
 GGAGATGTATCCTACAAGTTGAAAATTCCTAAGAATCCAGAACTTGTGCCACAGAACTAC       c.240
 G  D  V  S  Y  K  L  K  I  P  K  N  P  E  L  V  P  Q  N  Y         p.80

   | 03      .         .         .         .         .         .    g.53976
 A | TTTCAGACTCTCTGGCTCAATCTGTAGTTCAGCATCTAAGATGGATAATGCAGAAGGAT    c.300
 I |   S  D  S  L  A  Q  S  V  V  Q  H  L  R  W  I  M  Q  K  D      p.100

          .         .         .         .         .         .       g.54036
 CTTTTGGGGCAAGATGTTTTTCTAATAGGACCTCCTGGGCCTCTTCGACGCTCTATTGCT       c.360
 L  L  G  Q  D  V  F  L  I  G  P  P  G  P  L  R  R  S  I  A         p.120

          .   | 04     .         .         .         .         .    g.58437
 ATGCAGTACTTG | GAGCTGACCAAACGGGAGGTCGAATACATTGCCCTGTCAAGGGACACC    c.420
 M  Q  Y  L   | E  L  T  K  R  E  V  E  Y  I  A  L  S  R  D  T      p.140

          .         .         .         .         .         .       g.58497
 ACTGAAACTGATCTCAAACAGCGACGAGAGATCCGTGCAGGCACAGCCTTTTACATTGAT       c.480
 T  E  T  D  L  K  Q  R  R  E  I  R  A  G  T  A  F  Y  I  D         p.160

     | 05    .         .         .         .         .         .    g.74555
 CAG | TGTGCAGTTCGTGCAGCCACAGAAGGCAGAACTCTCATTTTGGAAGGTTTGGAAAAG    c.540
 Q   | C  A  V  R  A  A  T  E  G  R  T  L  I  L  E  G  L  E  K      p.180

          .         .         .         .         .         .       g.74615
 GCAGAGAGGAATGTTTTGCCTGTTTTGAACAACTTGCTGGAAAACAGAGAGATGCAGCTT       c.600
 A  E  R  N  V  L  P  V  L  N  N  L  L  E  N  R  E  M  Q  L         p.200

          .         .         .         .         .  | 06      .    g.78733
 GAAGATGGACGCTTCCTGATGTCTGCTGAGCGTTACGACAAACTTCTCCGA | GATCATACC    c.660
 E  D  G  R  F  L  M  S  A  E  R  Y  D  K  L  L  R   | D  H  T      p.220

          .         .         .         .         .         .       g.78793
 AAAAAAGAGTTGGATTCTTGGAAAATTGTCCGAGTTAGTGAAAATTTCCGAGTGATTGCC       c.720
 K  K  E  L  D  S  W  K  I  V  R  V  S  E  N  F  R  V  I  A         p.240

          .         .         .         .         .         .       g.78853
 TTGGGCTTGCCAGTGCCAAGGTATTCTGGGAATCCATTAGACCCCCCTCTTCGTTCTCGA       c.780
 L  G  L  P  V  P  R  Y  S  G  N  P  L  D  P  P  L  R  S  R         p.260

          .         .         .       | 07 .         .         .    g.79279
 TTTCAAGCCAGGGATATTTATTATTTACCCTTCAAG | GACCAACTTAAGTTGTTATATTCA    c.840
 F  Q  A  R  D  I  Y  Y  L  P  F  K   | D  Q  L  K  L  L  Y  S      p.280

          .         .       | 08 .         .         .         .    g.80091
 ATTGGAGCCAATGTTTCTGCTGAGAA | AGTTTCTCAGCTCTTGTCCTTTGCCACAACTCTG    c.900
 I  G  A  N  V  S  A  E  K  |  V  S  Q  L  L  S  F  A  T  T  L      p.300

          .         .         .         .         .         .       g.80151
 TGTTCCCAAGAATCTTCTACTCTTGGACTTCCAGACTTTCCTTTAGATAGTTTAGCAGCT       c.960
 C  S  Q  E  S  S  T  L  G  L  P  D  F  P  L  D  S  L  A  A         p.320

          .      | 09  .         .         .         .         .    g.82639
 GCGGTTCAAATCTTG | GATTCCTTTCCTATGATGCCAATCAAACATGCAATCCAGTGGCTT    c.1020
 A  V  Q  I  L   | D  S  F  P  M  M  P  I  K  H  A  I  Q  W  L      p.340

          .         .         .         .         .         .       g.82699
 TATCCATATAGTATTTTACTAGGTCATGAAGGGAAGATGGCTGTGGAAGGTGTTTTAAAG       c.1080
 Y  P  Y  S  I  L  L  G  H  E  G  K  M  A  V  E  G  V  L  K         p.360

  | 10       .         .         .         .         .         .    g.97668
  | CGCTTTGAACTTCAAGATTCAGGAAGCTCTCTACTTCCTAAAGAGATTGTAAAAGTAGAG    c.1140
  | R  F  E  L  Q  D  S  G  S  S  L  L  P  K  E  I  V  K  V  E      p.380

          .         .         .         .         .         .       g.97728
 AAGATGATGGAAAACCATGTGTCCCAAGCTTCTGTGACCATCCGGATTGCAGATAAAGAG       c.1200
 K  M  M  E  N  H  V  S  Q  A  S  V  T  I  R  I  A  D  K  E         p.400

          .   | 11     .         .         .         .         .    g.100097
 GTGACCATTAAG | GTGCCAGCCGGGACCAGGCTATTAAGTCAACCTTGTGCGTCAGACCGT    c.1260
 V  T  I  K   | V  P  A  G  T  R  L  L  S  Q  P  C  A  S  D  R      p.420

          .         .         .         .         .         .       g.100157
 TTCATACAGACTTTGAGCCATAAGCAGCTACAGGCTGAAATGATGCAGTCTCACATGGTT       c.1320
 F  I  Q  T  L  S  H  K  Q  L  Q  A  E  M  M  Q  S  H  M  V         p.440

          .         .        | 12.         .         .         .    g.100305
 AAAGATATATGTTTAATTGGAGGAAAG | GGTTGTGGAAAAACAGTGATCGCTAAGAACTTT    c.1380
 K  D  I  C  L  I  G  G  K   | G  C  G  K  T  V  I  A  K  N  F      p.460

          .         .         .         .      | 13  .         .    g.132569
 GCCGATACCTTAGGATACAACATAGAACCTATTATGCTCTATCAG | GATATGACAGCGCGT    c.1440
 A  D  T  L  G  Y  N  I  E  P  I  M  L  Y  Q   | D  M  T  A  R      p.480

          .         .         .         .         .         .       g.132629
 GATCTGCTACAGCAGAGATACACCCTTCCAAATGGAGACACTGCCTGGCGGTCCTCACCC       c.1500
 D  L  L  Q  Q  R  Y  T  L  P  N  G  D  T  A  W  R  S  S  P         p.500

          .         .         .         .         .         .       g.132689
 CTTGTGAATGCTGCTCTGGAAGGCAAGCTGGTCCTGCTGGATGGCATTCACCGGGTGAAT       c.1560
 L  V  N  A  A  L  E  G  K  L  V  L  L  D  G  I  H  R  V  N         p.520

          .         .       | 14 .         .         .         .    g.135477
 GCGGGCACGCTTGCTGTATTGCAAAG | GTTAATCCATGATCGAGAGCTAAGCCTCTATGAT    c.1620
 A  G  T  L  A  V  L  Q  R  |  L  I  H  D  R  E  L  S  L  Y  D      p.540

          .         .         .         .         .         .       g.135537
 GGTTCTAGGCTGCTGAGAGAAGACAGGTATATGCGTTTAAAGGAGGAGCTGCAACTGTCT       c.1680
 G  S  R  L  L  R  E  D  R  Y  M  R  L  K  E  E  L  Q  L  S         p.560

          .         . | 15       .         .         .         .    g.146739
 GATGAACAGCTACAGAAGAG | ATCCATTTTTCCTATCCATCCCTCCTTCAGAATCATTGCC    c.1740
 D  E  Q  L  Q  K  R  |  S  I  F  P  I  H  P  S  F  R  I  I  A      p.580

          .         .         .         .         .         .       g.146799
 TTGGCAGAACCCCCTGTTATTGGAAGCACAGCACACCAGTGGCTGGGACCAGAATTCTTA       c.1800
 L  A  E  P  P  V  I  G  S  T  A  H  Q  W  L  G  P  E  F  L         p.600

          .         .         .         .         .         .       g.146859
 ACCATGTTCTTTTTCCATTACATGAAACCACTTGTGAAAAGTGAAGAAATCCAAGTGATT       c.1860
 T  M  F  F  F  H  Y  M  K  P  L  V  K  S  E  E  I  Q  V  I         p.620

           | 16        .         .         .         .         .    g.149361
 AAGGAAAAG | GTCCCAAATGTACCTCAGGAAGCTCTGGATAAGTTATTATCATTTACACAC    c.1920
 K  E  K   | V  P  N  V  P  Q  E  A  L  D  K  L  L  S  F  T  H      p.640

          .         .        | 17.         .         .         .    g.154778
 AAACTCAGAGAAACACAGGATCCAACG | GCACAATCATTAGCGGCATCACTTTCTACCAGA    c.1980
 K  L  R  E  T  Q  D  P  T   | A  Q  S  L  A  A  S  L  S  T  R      p.660

          .         .         .         .         .         .       g.154838
 CAACTGTTGCGAATTTCTCGTCGGCTGTCACAGTATCCTAATGAAAATCTTCACAGTGCT       c.2040
 Q  L  L  R  I  S  R  R  L  S  Q  Y  P  N  E  N  L  H  S  A         p.680

          .         .    | 18    .         .         .         .    g.178579
 GTTACTAAAGCCTGCCTTTCCAG | GTTTTTACCCAGTCTTGCTAGGTCAGCATTAGAAAAA    c.2100
 V  T  K  A  C  L  S  R  |  F  L  P  S  L  A  R  S  A  L  E  K      p.700

          .         .         .         .         .         .       g.178639
 AATCTGGCAGATGCTACAATAGAAATAAATACTGATGACAATTTGGAGCCAGAACTGAAG       c.2160
 N  L  A  D  A  T  I  E  I  N  T  D  D  N  L  E  P  E  L  K         p.720

          . | 19       .         .         .         .         .    g.182234
 GATTACAAAT | GTGAAGTAACATCTGGAACTCTGAGGATTGGTGCTGTTAGTGCACCGATC    c.2220
 D  Y  K  C |   E  V  T  S  G  T  L  R  I  G  A  V  S  A  P  I      p.740

          .         .         .         .         .        | 20.    g.188032
 TATAATGCACATGAGAAAATGAAAGTGCCTGATGTTCTTTTCTATGACAACATTCAG | CAT    c.2280
 Y  N  A  H  E  K  M  K  V  P  D  V  L  F  Y  D  N  I  Q   | H      p.760

          .         .         .         .         .         .       g.188092
 GTGATAGTGATGGAAGATATGCTGAAAGACTTTCTCCTTGGAGAACACTTATTATTGGTT       c.2340
 V  I  V  M  E  D  M  L  K  D  F  L  L  G  E  H  L  L  L  V         p.780

           | 21        .         .         .         .         .    g.204932
 GGCAACCAG | GGTGTAGGAAAAAACAAGATTGTTGACAGATTCCTTCACCTGCTCAACAGA    c.2400
 G  N  Q   | G  V  G  K  N  K  I  V  D  R  F  L  H  L  L  N  R      p.800

          .         .       | 22 .         .         .         .    g.233964
 CCCCGAGAATATATTCAGCTACACAG | GGATACCACAGTACAAACTCTTACGCTTCAGCCT    c.2460
 P  R  E  Y  I  Q  L  H  R  |  D  T  T  V  Q  T  L  T  L  Q  P      p.820

          .         .         .         .   | 23     .         .    g.236426
 TCGGTTAAAGACGGACTTATTGTATATGAAGACTCACCTTTG | GTTAAAGCAGTAAAGTTG    c.2520
 S  V  K  D  G  L  I  V  Y  E  D  S  P  L   | V  K  A  V  K  L      p.840

          .         .         .         .         .         .       g.236486
 GGTCATATTCTGGTAGTAGATGAGGCTGACAAAGCTCCAACAAATGTCACGTGTATTTTA       c.2580
 G  H  I  L  V  V  D  E  A  D  K  A  P  T  N  V  T  C  I  L         p.860

          .         .         .         .         .         | 24    g.238774
 AAAACTCTAGTAGAAAATGGAGAAATGATTCTAGCAGATGGAAGACGCATTGTTGCAA | AT    c.2640
 K  T  L  V  E  N  G  E  M  I  L  A  D  G  R  R  I  V  A  N |       p.880

          .         .         .         .         .         .       g.238834
 TCTGCTAATGTGAATGGAAGAGAAAATGTTGTAGTGATTCATCCTGATTTTAGGATGATT       c.2700
 S  A  N  V  N  G  R  E  N  V  V  V  I  H  P  D  F  R  M  I         p.900

          .         .         .         .         .         | 25    g.244512
 GTTCTGGCAAATAGACCTGGATTTCCTTTCCTAGGCAATGATTTCTTCGGTACCTTAG | GT    c.2760
 V  L  A  N  R  P  G  F  P  F  L  G  N  D  F  F  G  T  L  G |       p.920

          .         .         .         .         .         .       g.244572
 GATATTTTTAGCTGCCATGCAGTTGATAACCCCAAACCCCACTCGGAGCTCGAGATGCTC       c.2820
 D  I  F  S  C  H  A  V  D  N  P  K  P  H  S  E  L  E  M  L         p.940

          .         .         .         .         .         .       g.244632
 AGACAGTATGGACCAAATGTGCCTGAGCCCATCCTTCAGAAGCTTGTGGCTGCCTTTGGA       c.2880
 R  Q  Y  G  P  N  V  P  E  P  I  L  Q  K  L  V  A  A  F  G         p.960

          .         .         .         .         .         .       g.244692
 GAGCTGAGGAGTTTGGCTGACCAAGGGATTATTAACTATCCTTATTCTACCAGAGAAGTT       c.2940
 E  L  R  S  L  A  D  Q  G  I  I  N  Y  P  Y  S  T  R  E  V         p.980

          .         .     | 26   .         .         .         .    g.246379
 GTCAACATAGTCAAACATTTACAG | AAATTTCCGACTGAAGGTCTCTCCAGTGTAGTTCGA    c.3000
 V  N  I  V  K  H  L  Q   | K  F  P  T  E  G  L  S  S  V  V  R      p.1000

          .         .         .         .         .         .       g.246439
 AATGTGTTTGACTTTGATTCCTACAACAATGACATGAGGGAGATATTGATTAACACTTTA       c.3060
 N  V  F  D  F  D  S  Y  N  N  D  M  R  E  I  L  I  N  T  L         p.1020

          .         .         .         .         .       | 27 .    g.262678
 CACAAATACGGGATACCTATCGGAGCAAAGCCTACCAGTGTGCAGCTGGCAAAGGA | GTTG    c.3120
 H  K  Y  G  I  P  I  G  A  K  P  T  S  V  Q  L  A  K  E  |  L      p.1040

          .         .         .         .         .         .       g.262738
 ACTCTGCCAGAACAAACGTTCATGGGCTACTGGACAATTGGTCAGGCAAGAAGTGGGATG       c.3180
 T  L  P  E  Q  T  F  M  G  Y  W  T  I  G  Q  A  R  S  G  M         p.1060

          .         .         .         .      | 28  .         .    g.264570
 CAAAAACTCTTGTGTCCAGTGGAAACTCATCATATAGACATAAAG | GGTCCAGCACTTATA    c.3240
 Q  K  L  L  C  P  V  E  T  H  H  I  D  I  K   | G  P  A  L  I      p.1080

          .         .         .         .         .         .       g.264630
 AATATACAGGAGTATCCAATAGAAAGACATGAAGAAAGATCCCTAAACTTTACTGAAGAA       c.3300
 N  I  Q  E  Y  P  I  E  R  H  E  E  R  S  L  N  F  T  E  E         p.1100

          .         .         .         .         .         .       g.264690
 TGTGCCTCATGGAGAATACCATTGGATGAAATTAATATAATCTGTGACATTGCTACATCA       c.3360
 C  A  S  W  R  I  P  L  D  E  I  N  I  I  C  D  I  A  T  S         p.1120

      | 29   .         .         .         .         .         .    g.266871
 CATG | AAAATGAGCAAAATACTCTCTATGTAGTTACATGCAATCCCGCTTCCCTGTACTTT    c.3420
 H  E |   N  E  Q  N  T  L  Y  V  V  T  C  N  P  A  S  L  Y  F      p.1140

          .         .         .         .         .         .       g.266931
 ATGAATATGACTGGGAAAAGTGGCTTCTTTGTGGACTTTTTTGATATCTTCCCAAGAACA       c.3480
 M  N  M  T  G  K  S  G  F  F  V  D  F  F  D  I  F  P  R  T         p.1160

          .         .         .         .         .         .       g.266991
 GCCAATGGCGTTTGGCACCCTTTTGTGACAGTGGCACCGCTGGGAAGTCCTCTCAAAGGT       c.3540
 A  N  G  V  W  H  P  F  V  T  V  A  P  L  G  S  P  L  K  G         p.1180

          .         .     | 30   .         .         .         .    g.273149
 CAAGTGGTTCTCCATGAGCAGCAG | AGTAATGTTATCCTGTTGTTAGATACTACTGGCCGG    c.3600
 Q  V  V  L  H  E  Q  Q   | S  N  V  I  L  L  L  D  T  T  G  R      p.1200

          .         .         .         .         .         .       g.273209
 GCCCTTCATCGTCTCATCCTCCCTTCCGAGAAGTTTACATCTAAGAAACCTTTCTGGTGG       c.3660
 A  L  H  R  L  I  L  P  S  E  K  F  T  S  K  K  P  F  W  W         p.1220

          .      | 31  .         .         .         .         .    g.274192
 AACAAAGAAGAAGCT | GAAACTTATAAAATGTGTAAAGAATTTTCACACAAAAACTGGCTG    c.3720
 N  K  E  E  A   | E  T  Y  K  M  C  K  E  F  S  H  K  N  W  L      p.1240

          .         . | 32       .         .         .         .    g.274680
 GTGTTCTACAAAGAAAAAGG | GAACAGCCTGACTGTGCTGGATGTTCTAGAAGGGCGAACT    c.3780
 V  F  Y  K  E  K  G  |  N  S  L  T  V  L  D  V  L  E  G  R  T      p.1260

          .         .         .         .         .         .       g.274740
 CACACCATCTCACTTCCCATCAACCTCAAGACAGTTTTCCTTGTAGCAGAGGACAAATGG       c.3840
 H  T  I  S  L  P  I  N  L  K  T  V  F  L  V  A  E  D  K  W         p.1280

          .         .       | 33 .         .         .         .    g.275844
 CTTCTGGTGGAGAGCAAAACAAATCA | GAAATATCTTTTAACTAAGCCTGCACACATCGAA    c.3900
 L  L  V  E  S  K  T  N  Q  |  K  Y  L  L  T  K  P  A  H  I  E      p.1300

          .         .         .         .         .         .       g.275904
 TCTGAGGGTAGTGGGGTTTGCCAGTTGTATGTGCTGAAAGAGGAGCCGCCCAGCACAGGG       c.3960
 S  E  G  S  G  V  C  Q  L  Y  V  L  K  E  E  P  P  S  T  G         p.1320

          .       | 34 .         .         .         .         .    g.276621
 TTTGGAGTTACACAAG | AAACAGAGTTCAGCATACCTCATAAAATTTCCAGTGATCAACTA    c.4020
 F  G  V  T  Q  E |   T  E  F  S  I  P  H  K  I  S  S  D  Q  L      p.1340

          .         .         .         .         .         .       g.276681
 TCATCTGAACATCTAAGTTCAGCTGTGGAACAAAAGATTGCCTCTCCCAACAGAATTCTC       c.4080
 S  S  E  H  L  S  S  A  V  E  Q  K  I  A  S  P  N  R  I  L         p.1360

          .         .         .         .         .  | 35      .    g.280852
 TCAGATGAGAAAAATTATGCTACAATAGTTGTTGGTTTTCCAGATCTCATG | TCACCCAGT    c.4140
 S  D  E  K  N  Y  A  T  I  V  V  G  F  P  D  L  M   | S  P  S      p.1380

          .         .         .         .         .         .       g.280912
 GAAGTTTATTCTTGGAAGAGACCATCATCTTTGCATAAACGAAGTGGCACTGATACATCA       c.4200
 E  V  Y  S  W  K  R  P  S  S  L  H  K  R  S  G  T  D  T  S         p.1400

          .         .         .         .         .         .       g.280972
 TTCTATAGAGGAAAGAAGAAAAGGGGGACTCCAAAACAAAGCAATTGTGTGACTCTTTTA       c.4260
 F  Y  R  G  K  K  K  R  G  T  P  K  Q  S  N  C  V  T  L  L         p.1420

          .         .         .         .         .         .       g.281032
 GATACGAATCAGGTAGTGAGGATTTTACCCCCAGGAGAAGTCCCTCTAAAAGATATCTAC       c.4320
 D  T  N  Q  V  V  R  I  L  P  P  G  E  V  P  L  K  D  I  Y         p.1440

         | 36.         .         .         .         .         .    g.290842
 CCAAAAG | ATGTTACTCCTCCACAAACATCTGGTTATATAGAAGTCACTGATCTTCAATCA    c.4380
 P  K  D |   V  T  P  P  Q  T  S  G  Y  I  E  V  T  D  L  Q  S      p.1460

          .         .          | 37        .         .         .    g.294969
 AAGAAACTCCGATATATCCCTATTCCCAG | ATCAGAATCTCTCTCGCCGTATACCACATGG    c.4440
 K  K  L  R  Y  I  P  I  P  R  |  S  E  S  L  S  P  Y  T  T  W      p.1480

          .         .         .         .         .         .       g.295029
 CTGTCGACCATTTCAGACACAGATGCACTGCTGGCTGAGTGGGACAAAAGCGGTGTTGTT       c.4500
 L  S  T  I  S  D  T  D  A  L  L  A  E  W  D  K  S  G  V  V         p.1500

          .         .         .         .         .         .       g.295089
 ACTGTTGATATGGGAGGTCACATCAGGCTTTGGGAAACTGGACTTGAACGTCTGCAGCGA       c.4560
 T  V  D  M  G  G  H  I  R  L  W  E  T  G  L  E  R  L  Q  R         p.1520

          .         .         .         .         .  | 38      .    g.351010
 TCACTCATGGAATGGAGAAACATGATTGGACAAGATGACAGAAATATGCAG | ATAACAATC    c.4620
 S  L  M  E  W  R  N  M  I  G  Q  D  D  R  N  M  Q   | I  T  I      p.1540

          .         .         .         .         .         .       g.351070
 AACAGAGACAGTGGTGAAGATGTAAGCTCCCCCAAACACGGGAAGGAGGACCCAGACAAC       c.4680
 N  R  D  S  G  E  D  V  S  S  P  K  H  G  K  E  D  P  D  N         p.1560

          .         .         .         . | 39       .         .    g.354373
 ATGCCTCACGTGGGCGGCAACACTTGGGCTGGCGGAACAG | GGGGAAGAGACACGGCAGGC    c.4740
 M  P  H  V  G  G  N  T  W  A  G  G  T  G |   G  R  D  T  A  G      p.1580

          .         .         .         .         .         .       g.354433
 CTGGGTGGCAAAGGAGGCCCTTACCGGCTGGATGCAGGCCATACGGTGTACCAGGTCTCT       c.4800
 L  G  G  K  G  G  P  Y  R  L  D  A  G  H  T  V  Y  Q  V  S         p.1600

          .         .         .         .         .         .       g.354493
 CAGGCTGAGAAAGATGCAGTTCCCGAAGAGGTCAAGAGAGCTGCTAGAGAGATGGGCCAG       c.4860
 Q  A  E  K  D  A  V  P  E  E  V  K  R  A  A  R  E  M  G  Q         p.1620

          .        | 40.         .         .         .         .    g.360852
 AGAGCATTCCAGCAGAG | GCTAAAGGAGATCCAAATGAGTGAATACGATGCTGCAACCTAT    c.4920
 R  A  F  Q  Q  R  |  L  K  E  I  Q  M  S  E  Y  D  A  A  T  Y      p.1640

          .         .         .         .         .         .       g.360912
 GAAAGGTTTTCAGGTGCTGTTCGGCGACAGGTGCACTCCCTCCGAATCATCCTGGATAAT       c.4980
 E  R  F  S  G  A  V  R  R  Q  V  H  S  L  R  I  I  L  D  N         p.1660

        | 41 .         .         .         .         .         .    g.375374
 TTACAG | GCTAAAGGTAAAGAAAGACAATGGCTAAGACATCAAGCTACTGGAGAATTAGAT    c.5040
 L  Q   | A  K  G  K  E  R  Q  W  L  R  H  Q  A  T  G  E  L  D      p.1680

          .         .         .         .         .         .       g.375434
 GATGCCAAGATCATTGATGGGCTGACTGGAGAAAAAGCCATCTACAAACGTCGGGGTGAG       c.5100
 D  A  K  I  I  D  G  L  T  G  E  K  A  I  Y  K  R  R  G  E         p.1700

          .   | 42     .         .         .         .         .    g.378463
 CTGGAGCCACAA | CTTGGCAGCCCACAACAGAAACCCAAGCGTCTGCGCCTGGTGGTAGAT    c.5160
 L  E  P  Q   | L  G  S  P  Q  Q  K  P  K  R  L  R  L  V  V  D      p.1720

          .         .         .         .         .         .       g.378523
 GTGTCTGGTAGCATGTACCGTTTCAACAGGATGGATGGCCGGCTTGAGCGCACAATGGAG       c.5220
 V  S  G  S  M  Y  R  F  N  R  M  D  G  R  L  E  R  T  M  E         p.1740

          .         .         .         .         .  | 43      .    g.390256
 GCTGTGTGTATGGTCATGGAAGCCTTCGAGAACTATGAGGAGAAGTTCCAG | TATGACATC    c.5280
 A  V  C  M  V  M  E  A  F  E  N  Y  E  E  K  F  Q   | Y  D  I      p.1760

          .         .         .         .         .         .       g.390316
 GTTGGACACTCTGGAGATGGCTACAACATTGGTCTGGTTCCAATGAACAAAATCCCCAAG       c.5340
 V  G  H  S  G  D  G  Y  N  I  G  L  V  P  M  N  K  I  P  K         p.1780

          .         .         . | 44       .         .         .    g.395409
 GACAATAAGCAAAGACTAGAAATTCTGAAG | ACAATGCATGCCCACTCTCAGTTCTGCATG    c.5400
 D  N  K  Q  R  L  E  I  L  K   | T  M  H  A  H  S  Q  F  C  M      p.1800

          .         .         .         .         .         .       g.395469
 AGTGGGGACCACACGTTAGAAGGGACAGAACATGCCATCAAGGAAATTGTCAAAGAAGAA       c.5460
 S  G  D  H  T  L  E  G  T  E  H  A  I  K  E  I  V  K  E  E         p.1820

          .         .         .         .         .         .       g.395529
 GCTGATGAGTACTTTGTCATAGTCTTGAGTGATGCAAATCTGTCACGATATGGAATACAT       c.5520
 A  D  E  Y  F  V  I  V  L  S  D  A  N  L  S  R  Y  G  I  H         p.1840

          .         .         .         .         .         .       g.395589
 CCTGCTAAGTTTGCTCAAATCCTCACAAGAGACCCTCAAGTAAATGCTTTTGCCATTTTT       c.5580
 P  A  K  F  A  Q  I  L  T  R  D  P  Q  V  N  A  F  A  I  F         p.1860

          .         .          | 45        .         .         .    g.397811
 ATTGGCTCTTTAGGTGATCAAGCAACCAG | GCTTCAGAGAACTTTACCAGCTGGTCGGTCT    c.5640
 I  G  S  L  G  D  Q  A  T  R  |  L  Q  R  T  L  P  A  G  R  S      p.1880

          .         .         .         .         .         .       g.397871
 TTCGTTGCCATGGATACCAAGGATATCCCTCAGATTTTACAACAGATCTTCACCTCCACC       c.5700
 F  V  A  M  D  T  K  D  I  P  Q  I  L  Q  Q  I  F  T  S  T         p.1900

          .                                                         g.397889
 ATGTTGTCGAGTGTCTAA                                                 c.5718
 M  L  S  S  V  X                                                   p.1905

          .         .         .         .         .         .       g.397949
 gaagtgcccttcatcaccctgatgacaccaggatttgaaataagacaggaataaagagta       c.*60

          .         .         .         .         .         .       g.398009
 ttctgaaaaaaagaagatatggatgaagtgaacccatgcagtgactggatgattccggca       c.*120

          .         .         .         .         .         .       g.398069
 ttcctgggtcttcctacacttgctccgtaatgagaattcagagaagcagccagaaggaga       c.*180

          .         .         .         .         .         .       g.398129
 cttaaacatggaaagatactccactgatgagtttagaagtgattagggcaagctagttga       c.*240

          .         .         .         .         .         .       g.398189
 cctgcactttatcaaaggttggggttaaaggaaggtggttttgagaactatgtgtttggt       c.*300

          .         .         .         .         .         .       g.398249
 ctatttccaaaaacctgagggggagaaaatactttgcttttgccttaacacatcatctgg       c.*360

          .         .         .         .         .         .       g.398309
 tcacgttagaaaagtgaccccatcaaactgagcctttgatgtcacattctgacacaagat       c.*420

          .         .         .         .         .         .       g.398369
 gcaagtctgtgcaaaacccaccaaaatgctcctatccaacaattatttttattttctccc       c.*480

          .         .         .         .         .         .       g.398429
 tgctctgtattgaccagaaaacaatgattttataatatttaacccaccaaaaagtccctc       c.*540

          .         .         .         .         .         .       g.398489
 caacagcaatatcttatgaaagtctggctgttctcaataatttcattttcttggccaaag       c.*600

          .         .         .         .         .         .       g.398549
 ccaaaaggaatcaaaaaatccttggagtgcttgcctttccacgtgacttttaaaaggctc       c.*660

          .         .         .         .         .         .       g.398609
 ttaaagagcaaatgtcctcttctccttgctgctagagtgggaggagaaagatgtcttgcc       c.*720

          .         .         .         .         .         .       g.398669
 ttaaaagtttactgtttcttctgttcttctagcatctctcaaaaaattcacagtactcca       c.*780

          .         .         .         .         .         .       g.398729
 ttttggggtccaaactgtaatgctcaaaataataaatgcttacacgaaaattatttattg       c.*840

          .         .         .         .         .         .       g.398789
 agaatattcatataaaaattacctaaagcaaagtaaaaaaagtaaaatcaaggtggtata       c.*900

          .         .         .         .         .         .       g.398849
 tttgaagtgaatggtgattggaaatttttagctgtaacaaaaagaaagaaaacaactttt       c.*960

          .         .         .         .         .         .       g.398909
 tttaaagcctcattctcttttctttcaaaatgtaccttattcccacacactcttgggctg       c.*1020

          .         .         .         .         .         .       g.398969
 acctttattttatcaataagctcaatattactttgtttaaaataagatgcttcagcaaaa       c.*1080

          .         .         .         .         .         .       g.399029
 gtcattctctctttaaccatataatttaaaaactcctcttcacgattgatagcaaaatca       c.*1140

          .         .         .         .         .         .       g.399089
 gaaacgttagggcaccagtgagttgaaaaaactggtcttaagttggaaaaactattatta       c.*1200

          .         .         .         .         .         .       g.399149
 ataatattatcctatccatccatatctattgaaattgtacaggtccataatttcatttta       c.*1260

          .         .         .         .         .         .       g.399209
 attaattataggaaagaagaaaagataatacccatttgttctatcacccctctccctatc       c.*1320

          .         .         .         .         .                 g.399261
 attaactatcaaataaataaataaaagcaatctgatttccaacgtggtacta               c.*1372

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Von Willebrand factor A domain containing 8 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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