chromodomain helicase DNA binding protein 4 (CHD4) - coding DNA reference sequence

(used for variant description)

(last modified February 10, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_001273.2 in the CHD4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering CHD4 transcript NM_001273.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5044
                 attttccccccttcggccgcggcgaggaggagccggagcgggag       c.-121

 .         .         .         .         .  | 02      .             g.5952
 tgacaccgagccggacccagcgcgacctgcggcggctccggg | tgactcgggccagtgtag    c.-61

 .         .         .         .         .         .                g.6012
 aggtcctcaggccgccggcaggagcagctgggccaattccctggccgggagcggaagggg       c.-1

          .         .         .         .         .         .       g.6072
 ATGGCGTCGGGCCTGGGCTCCCCGTCCCCCTGCTCGGCGGGCAGTGAGGAGGAGGATATG       c.60
 M  A  S  G  L  G  S  P  S  P  C  S  A  G  S  E  E  E  D  M         p.20

          .         .         .         . | 03       .         .    g.9908
 GATGCACTTTTGAACAACAGCCTGCCCCCACCCCACCCAG | AAAATGAAGAGGACCCAGAA    c.120
 D  A  L  L  N  N  S  L  P  P  P  H  P  E |   N  E  E  D  P  E      p.40

          .         .         .         .         .         .       g.9968
 GAGGATTTGTCAGAAACAGAGACTCCAAAGCTCAAGAAGAAGAAAAAGCCTAAGAAACCT       c.180
 E  D  L  S  E  T  E  T  P  K  L  K  K  K  K  K  P  K  K  P         p.60

          .         .         .         .   | 04     .         .    g.10228
 CGGGACCCTAAAATCCCTAAGAGCAAGCGCCAAAAAAAGGAG | CGTATGCTCTTATGCCGG    c.240
 R  D  P  K  I  P  K  S  K  R  Q  K  K  E   | R  M  L  L  C  R      p.80

          .         .         .         .         .         .       g.10288
 CAGCTGGGGGACAGCTCTGGGGAGGGGCCAGAGTTTGTGGAGGAGGAGGAAGAGGTGGCT       c.300
 Q  L  G  D  S  S  G  E  G  P  E  F  V  E  E  E  E  E  V  A         p.100

          .         .         .         .         .         .       g.10348
 CTGCGCTCAGACAGTGAGGGCAGCGACTATACTCCTGGCAAGAAGAAGAAGAAGAAGCTT       c.360
 L  R  S  D  S  E  G  S  D  Y  T  P  G  K  K  K  K  K  K  L         p.120

          .         .         .         .         .         .       g.10408
 GGACCTAAGAAAGAGAAGAAGAGCAAATCCAAGCGGAAGGAGGAGGAGGAGGAGGAGGAT       c.420
 G  P  K  K  E  K  K  S  K  S  K  R  K  E  E  E  E  E  E  D         p.140

          .         | 05         .         .         .         .    g.10661
 GATGATGATGATTCAAAG | GAGCCTAAATCATCTGCTCAGCTCCTGGAAGACTGGGGCATG    c.480
 D  D  D  D  S  K   | E  P  K  S  S  A  Q  L  L  E  D  W  G  M      p.160

          .         .         .         .         .         .       g.10721
 GAAGACATTGACCACGTGTTCTCAGAGGAGGATTATCGAACCCTCACCAACTACAAGGCC       c.540
 E  D  I  D  H  V  F  S  E  E  D  Y  R  T  L  T  N  Y  K  A         p.180

          .        | 06.         .         .         .         .    g.10898
 TTCAGCCAGTTTGTCAG | ACCCCTCATTGCTGCCAAAAATCCCAAGATTGCTGTCTCCAAG    c.600
 F  S  Q  F  V  R  |  P  L  I  A  A  K  N  P  K  I  A  V  S  K      p.200

          .         .         .         .         .         .       g.10958
 ATGATGATGGTTTTGGGTGCAAAATGGCGGGAGTTCAGTACCAATAACCCCTTCAAAGGC       c.660
 M  M  M  V  L  G  A  K  W  R  E  F  S  T  N  N  P  F  K  G         p.220

          .         .         .         .         .         .       g.11018
 AGTTCTGGGGCATCAGTGGCAGCTGCGGCAGCAGCAGCGGTAGCTGTGGTGGAGAGCATG       c.720
 S  S  G  A  S  V  A  A  A  A  A  A  A  V  A  V  V  E  S  M         p.240

          .         .         .         .         .         .       g.11078
 GTGACAGCCACTGAGGTTGCACCACCACCTCCCCCTGTGGAGGTGCCTATCCGCAAGGCC       c.780
 V  T  A  T  E  V  A  P  P  P  P  P  V  E  V  P  I  R  K  A         p.260

          .          | 07        .         .         .         .    g.11373
 AAGACCAAGGAGGGCAAAG | GTCCCAATGCTCGGAGGAAGCCCAAGGGCAGCCCTCGTGTA    c.840
 K  T  K  E  G  K  G |   P  N  A  R  R  K  P  K  G  S  P  R  V      p.280

          .         .         .         .         .         .       g.11433
 CCTGATGCCAAGAAGCCTAAACCCAAGAAAGTAGCTCCCCTGAAAATCAAGCTGGGAGGT       c.900
 P  D  A  K  K  P  K  P  K  K  V  A  P  L  K  I  K  L  G  G         p.300

          .         .        | 08.         .         .         .    g.11749
 TTTGGTTCCAAGCGTAAGAGATCCTCG | AGTGAGGATGATGACTTAGATGTGGAATCTGAC    c.960
 F  G  S  K  R  K  R  S  S   | S  E  D  D  D  L  D  V  E  S  D      p.320

          .         .         .         .         .         .       g.11809
 TTCGATGATGCCAGTATCAATAGCTATTCTGTTTCTGATGGTTCCACCAGCCGTAGTAGC       c.1020
 F  D  D  A  S  I  N  S  Y  S  V  S  D  G  S  T  S  R  S  S         p.340

          .         .         .         .    | 09    .         .    g.12007
 CGCAGCCGCAAGAAACTCCGAACCACTAAAAAGAAAAAGAAAG | GCGAGGAGGAGGTGACT    c.1080
 R  S  R  K  K  L  R  T  T  K  K  K  K  K  G |   E  E  E  V  T      p.360

          .         .         .         .         .         .       g.12067
 GCTGTGGATGGTTATGAGACAGACCACCAGGACTATTGCGAGGTGTGCCAGCAAGGCGGT       c.1140
 A  V  D  G  Y  E  T  D  H  Q  D  Y  C  E  V  C  Q  Q  G  G         p.380

          .         .         .         .         .         .       g.12127
 GAGATCATCCTGTGTGATACCTGTCCCCGTGCTTACCACATGGTCTGCCTGGATCCCGAC       c.1200
 E  I  I  L  C  D  T  C  P  R  A  Y  H  M  V  C  L  D  P  D         p.400

          .         .         .         .   | 10     .         .    g.12391
 ATGGAGAAGGCTCCCGAGGGCAAGTGGAGCTGCCCACACTGC | GAGAAGGAAGGCATCCAG    c.1260
 M  E  K  A  P  E  G  K  W  S  C  P  H  C   | E  K  E  G  I  Q      p.420

          .         .         .         .         .         .       g.12451
 TGGGAAGCTAAAGAGGACAATTCGGAGGGTGAGGAGATCCTGGAAGAGGTTGGGGGAGAC       c.1320
 W  E  A  K  E  D  N  S  E  G  E  E  I  L  E  E  V  G  G  D         p.440

          .         .         .         .         .         .       g.12511
 CTCGAAGAGGAGGATGACCACCATATGGAATTCTGTCGGGTCTGCAAGGATGGTGGGGAA       c.1380
 L  E  E  E  D  D  H  H  M  E  F  C  R  V  C  K  D  G  G  E         p.460

          .         .         .         .         .         .       g.12571
 CTGCTCTGCTGTGATACCTGTCCTTCTTCCTACCACATCCACTGCCTGAATCCCCCACTT       c.1440
 L  L  C  C  D  T  C  P  S  S  Y  H  I  H  C  L  N  P  P  L         p.480

          .         .         .         .   | 11     .         .    g.13978
 CCAGAGATCCCCAACGGTGAATGGCTCTGTCCCCGTTGTACG | TGTCCAGCTCTGAAGGGC    c.1500
 P  E  I  P  N  G  E  W  L  C  P  R  C  T   | C  P  A  L  K  G      p.500

          .         .         .         .         .         .       g.14038
 AAAGTGCAGAAGATCCTAATCTGGAAGTGGGGTCAGCCACCATCTCCCACACCAGTGCCT       c.1560
 K  V  Q  K  I  L  I  W  K  W  G  Q  P  P  S  P  T  P  V  P         p.520

          .         .         .         .         .         .       g.14098
 CGGCCTCCAGATGCTGATCCCAACACGCCCTCCCCAAAGCCCTTGGAGGGGCGGCCAGAG       c.1620
 R  P  P  D  A  D  P  N  T  P  S  P  K  P  L  E  G  R  P  E         p.540

          .         .         .         .         .         .       g.14158
 CGGCAGTTCTTTGTGAAATGGCAAGGCATGTCTTACTGGCACTGCTCCTGGGTTTCTGAA       c.1680
 R  Q  F  F  V  K  W  Q  G  M  S  Y  W  H  C  S  W  V  S  E         p.560

        | 12 .         .         .         .         .         .    g.14340
 CTGCAG | CTGGAGCTGCACTGTCAGGTGATGTTCCGAAACTATCAGCGGAAGAATGATATG    c.1740
 L  Q   | L  E  L  H  C  Q  V  M  F  R  N  Y  Q  R  K  N  D  M      p.580

          .         .         .         .         .         .       g.14400
 GATGAGCCACCTTCTGGGGACTTTGGTGGTGATGAAGAGAAAAGCCGAAAGCGAAAGAAC       c.1800
 D  E  P  P  S  G  D  F  G  G  D  E  E  K  S  R  K  R  K  N         p.600

          .         .         .         .         .         .       g.14460
 AAGGACCCTAAATTTGCAGAGATGGAGGAACGCTTCTATCGCTATGGGATAAAACCCGAG       c.1860
 K  D  P  K  F  A  E  M  E  E  R  F  Y  R  Y  G  I  K  P  E         p.620

          .         .         .   | 13     .         .         .    g.16276
 TGGATGATGATCCACCGAATCCTCAACCACAG | TGTGGACAAGAAGGGCCACGTCCACTAC    c.1920
 W  M  M  I  H  R  I  L  N  H  S  |  V  D  K  K  G  H  V  H  Y      p.640

          .         .         .         .         .         .       g.16336
 TTGATCAAGTGGCGGGACTTACCTTACGATCAGGCTTCTTGGGAGAGTGAGGATGTGGAG       c.1980
 L  I  K  W  R  D  L  P  Y  D  Q  A  S  W  E  S  E  D  V  E         p.660

          .         .         .         .     | 14   .         .    g.16971
 ATCCAGGATTACGACCTGTTCAAGCAGAGCTATTGGAATCACAG | GGAGTTAATGAGGGGT    c.2040
 I  Q  D  Y  D  L  F  K  Q  S  Y  W  N  H  R  |  E  L  M  R  G      p.680

          .         .         .         .         .         .       g.17031
 GAGGAAGGCCGACCAGGCAAGAAGCTCAAGAAGGTGAAGCTTCGGAAGTTGGAGAGGCCT       c.2100
 E  E  G  R  P  G  K  K  L  K  K  V  K  L  R  K  L  E  R  P         p.700

          .         .  | 15      .         .         .         .    g.17774
 CCAGAAACGCCAACAGTTGAT | CCAACAGTGAAGTATGAGCGACAGCCAGAGTACCTGGAT    c.2160
 P  E  T  P  T  V  D   | P  T  V  K  Y  E  R  Q  P  E  Y  L  D      p.720

          .         .         .         .         .         .       g.17834
 GCTACAGGTGGAACCCTGCACCCCTATCAAATGGAGGGCCTGAATTGGTTGCGCTTCTCC       c.2220
 A  T  G  G  T  L  H  P  Y  Q  M  E  G  L  N  W  L  R  F  S         p.740

          .         .         .         .         .         .       g.17894
 TGGGCTCAGGGCACTGACACCATCTTGGCTGATGAGATGGGCCTTGGGAAAACTGTACAG       c.2280
 W  A  Q  G  T  D  T  I  L  A  D  E  M  G  L  G  K  T  V  Q         p.760

          .         .         .    | 16    .         .         .    g.18796
 ACAGCAGTCTTCCTGTATTCCCTTTACAAGGAG | GGTCATTCCAAAGGCCCCTTCCTAGTG    c.2340
 T  A  V  F  L  Y  S  L  Y  K  E   | G  H  S  K  G  P  F  L  V      p.780

          .         .         .         .         .         .       g.18856
 AGCGCCCCTCTTTCTACCATCATCAACTGGGAGCGGGAGTTTGAAATGTGGGCTCCAGAC       c.2400
 S  A  P  L  S  T  I  I  N  W  E  R  E  F  E  M  W  A  P  D         p.800

          .         .         .         .         .         .       g.18916
 ATGTATGTCGTAACCTATGTGGGTGACAAGGACAGCCGTGCCATCATCCGAGAGAATGAG       c.2460
 M  Y  V  V  T  Y  V  G  D  K  D  S  R  A  I  I  R  E  N  E         p.820

          .         .         .         .         .     | 17   .    g.19163
 TTCTCCTTTGAAGACAATGCCATTCGTGGTGGCAAGAAGGCCTCCCGCATGAAG | AAAGAG    c.2520
 F  S  F  E  D  N  A  I  R  G  G  K  K  A  S  R  M  K   | K  E      p.840

          .         .         .         .         .         .       g.19223
 GCATCTGTGAAATTCCATGTGCTGCTGACATCCTATGAATTGATCACCATTGACATGGCT       c.2580
 A  S  V  K  F  H  V  L  L  T  S  Y  E  L  I  T  I  D  M  A         p.860

          .         .         .         .         .         .       g.19283
 ATTTTGGGCTCTATTGATTGGGCCTGCCTCATCGTGGATGAAGCCCATCGGCTGAAGAAC       c.2640
 I  L  G  S  I  D  W  A  C  L  I  V  D  E  A  H  R  L  K  N         p.880

          .   | 18     .         .         .         .         .    g.19616
 AATCAGTCTAAG | TTCTTCCGGGTATTGAATGGTTACTCACTCCAGCACAAGCTGTTGCTG    c.2700
 N  Q  S  K   | F  F  R  V  L  N  G  Y  S  L  Q  H  K  L  L  L      p.900

          .         .         .         .         .         .       g.19676
 ACTGGGACACCATTACAAAACAATCTGGAAGAGTTGTTTCATCTGCTCAACTTTCTCACC       c.2760
 T  G  T  P  L  Q  N  N  L  E  E  L  F  H  L  L  N  F  L  T         p.920

          .     | 19   .         .         .         .         .    g.19865
 CCCGAGAGGTTCCA | CAATTTGGAAGGTTTTTTGGAGGAGTTTGCTGACATTGCCAAGGAG    c.2820
 P  E  R  F  H  |  N  L  E  G  F  L  E  E  F  A  D  I  A  K  E      p.940

          .         .         .         .         .         .       g.19925
 GACCAGATAAAAAAACTGCATGACATGCTGGGGCCGCACATGTTGCGGCGGCTCAAAGCC       c.2880
 D  Q  I  K  K  L  H  D  M  L  G  P  H  M  L  R  R  L  K  A         p.960

          .         .         .         .         .         .       g.19985
 GATGTGTTCAAGAACATGCCCTCCAAGACAGAACTAATTGTGCGTGTGGAGCTGAGCCCT       c.2940
 D  V  F  K  N  M  P  S  K  T  E  L  I  V  R  V  E  L  S  P         p.980

          | 20         .         .         .         .         .    g.20380
 ATGCAGAA | GAAATACTACAAGTACATCCTCACTCGAAATTTTGAAGCACTCAATGCCCGA    c.3000
 M  Q  K  |  K  Y  Y  K  Y  I  L  T  R  N  F  E  A  L  N  A  R      p.1000

          .         .         .         .         .         .       g.20440
 GGTGGTGGCAACCAGGTGTCTCTGCTGAATGTGGTGATGGATCTTAAGAAGTGCTGCAAC       c.3060
 G  G  G  N  Q  V  S  L  L  N  V  V  M  D  L  K  K  C  C  N         p.1020

          .         .         . | 21       .         .         .    g.20590
 CATCCATACCTCTTCCCTGTGGCTGCAATG | GAAGCTCCTAAGATGCCTAATGGCATGTAT    c.3120
 H  P  Y  L  F  P  V  A  A  M   | E  A  P  K  M  P  N  G  M  Y      p.1040

          .         .         .         .         .         .       g.20650
 GATGGCAGTGCCCTAATCAGAGCATCTGGGAAATTATTGCTGCTGCAGAAAATGCTCAAG       c.3180
 D  G  S  A  L  I  R  A  S  G  K  L  L  L  L  Q  K  M  L  K         p.1060

          .         .         .         .   | 22     .         .    g.20820
 AACCTTAAGGAGGGTGGGCATCGTGTACTCATCTTTTCCCAG | ATGACCAAGATGCTAGAC    c.3240
 N  L  K  E  G  G  H  R  V  L  I  F  S  Q   | M  T  K  M  L  D      p.1080

          .         .         .         .         .         .       g.20880
 CTGCTAGAGGATTTCTTGGAACATGAAGGTTATAAATACGAACGCATCGATGGTGGAATC       c.3300
 L  L  E  D  F  L  E  H  E  G  Y  K  Y  E  R  I  D  G  G  I         p.1100

          .         .         .         . | 23       .         .    g.23983
 ACTGGGAACATGCGGCAAGAGGCCATTGACCGCTTCAATG | CACCGGGTGCTCAGCAGTTC    c.3360
 T  G  N  M  R  Q  E  A  I  D  R  F  N  A |   P  G  A  Q  Q  F      p.1120

          .         .         .         .         .         .       g.24043
 TGCTTCTTGCTTTCCACTCGAGCTGGGGGCCTTGGAATCAATCTGGCCACTGCTGACACA       c.3420
 C  F  L  L  S  T  R  A  G  G  L  G  I  N  L  A  T  A  D  T         p.1140

          .         .         .         .      | 24  .         .    g.24451
 GTTATTATCTATGACTCTGACTGGAACCCCCATAATGACATTCAG | GCCTTTAGCAGAGCT    c.3480
 V  I  I  Y  D  S  D  W  N  P  H  N  D  I  Q   | A  F  S  R  A      p.1160

          .         .         .         .         .         .       g.24511
 CACCGGATTGGGCAAAATAAAAAGGTAATGATCTACCGGTTTGTGACCCGTGCGTCAGTG       c.3540
 H  R  I  G  Q  N  K  K  V  M  I  Y  R  F  V  T  R  A  S  V         p.1180

          .         .         .         .         .         .       g.24571
 GAGGAGCGCATCACGCAGGTGGCAAAGAAGAAAATGATGCTGACGCATCTAGTGGTGCGG       c.3600
 E  E  R  I  T  Q  V  A  K  K  K  M  M  L  T  H  L  V  V  R         p.1200

          .         .         .         .         .         .       g.24631
 CCTGGGCTGGGCTCCAAGACTGGATCTATGTCCAAACAGGAGCTTGATGATATCCTCAAA       c.3660
 P  G  L  G  S  K  T  G  S  M  S  K  Q  E  L  D  D  I  L  K         p.1220

          .         .         .         .    | 25    .         .    g.24843
 TTTGGCACTGAGGAACTATTCAAGGATGAAGCCACTGATGGAG | GAGGAGACAACAAAGAG    c.3720
 F  G  T  E  E  L  F  K  D  E  A  T  D  G  G |   G  D  N  K  E      p.1240

          .         .         .         .         .         .       g.24903
 GGAGAAGATAGCAGTGTTATCCACTACGATGATAAGGCCATTGAACGGCTGCTAGACCGT       c.3780
 G  E  D  S  S  V  I  H  Y  D  D  K  A  I  E  R  L  L  D  R         p.1260

          .         .         .         .         .         .       g.24963
 AACCAGGATGAGACTGAAGACACAGAATTGCAGGGCATGAATGAATATTTGAGCTCATTC       c.3840
 N  Q  D  E  T  E  D  T  E  L  Q  G  M  N  E  Y  L  S  S  F         p.1280

          .         .         .          | 26        .         .    g.29028
 AAAGTGGCCCAGTATGTGGTACGGGAAGAAGAAATGGGG | GAGGAAGAGGAGGTAGAACGG    c.3900
 K  V  A  Q  Y  V  V  R  E  E  E  M  G   | E  E  E  E  V  E  R      p.1300

          .         .         .         .         .         .       g.29088
 GAAATCATTAAACAGGAAGAAAGTGTGGATCCTGACTACTGGGAGAAATTGCTGCGGCAC       c.3960
 E  I  I  K  Q  E  E  S  V  D  P  D  Y  W  E  K  L  L  R  H         p.1320

          .         .         .         .         .         .       g.29148
 CATTATGAGCAGCAGCAAGAAGATCTAGCCCGAAATCTGGGCAAAGGAAAAAGAATCCGT       c.4020
 H  Y  E  Q  Q  Q  E  D  L  A  R  N  L  G  K  G  K  R  I  R         p.1340

          .         .         .         . | 27       .         .    g.29292
 AAACAGGTCAACTACAATGATGGCTCCCAGGAGGACCGAG | ATTGGCAGGACGACCAGTCC    c.4080
 K  Q  V  N  Y  N  D  G  S  Q  E  D  R  D |   W  Q  D  D  Q  S      p.1360

          .         .         .         .         .         .       g.29352
 GACAACCAGTCCGATTACTCAGTGGCTTCAGAGGAAGGTGATGAAGACTTTGATGAACGT       c.4140
 D  N  Q  S  D  Y  S  V  A  S  E  E  G  D  E  D  F  D  E  R         p.1380

         | 28.         .         .         .         .         .    g.29502
 TCAGAAG | CTCCCCGTAGGCCCAGTCGTAAGGGCCTGCGGAATGATAAAGATAAGCCATTG    c.4200
 S  E  A |   P  R  R  P  S  R  K  G  L  R  N  D  K  D  K  P  L      p.1400

          .         .         .       | 29 .         .         .    g.29661
 CCTCCTCTGTTGGCCCGTGTTGGTGGGAATATTGAA | GTACTTGGTTTTAATGCTCGTCAG    c.4260
 P  P  L  L  A  R  V  G  G  N  I  E   | V  L  G  F  N  A  R  Q      p.1420

          .         .         .         .         .         .       g.29721
 CGAAAAGCCTTTCTTAATGCAATTATGCGATATGGTATGCCACCTCAGGATGCTTTTACT       c.4320
 R  K  A  F  L  N  A  I  M  R  Y  G  M  P  P  Q  D  A  F  T         p.1440

          .         .         .         .         . | 30       .    g.30114
 ACCCAGTGGCTTGTAAGAGACCTGCGAGGCAAATCAGAGAAAGAGTTCAA | GGCATATGTC    c.4380
 T  Q  W  L  V  R  D  L  R  G  K  S  E  K  E  F  K  |  A  Y  V      p.1460

          .         .         .         .         .         .       g.30174
 TCTCTTTTCATGCGGCATTTATGTGAGCCGGGGGCAGATGGGGCTGAGACCTTTGCTGAT       c.4440
 S  L  F  M  R  H  L  C  E  P  G  A  D  G  A  E  T  F  A  D         p.1480

          .         .         .         .         .         .       g.30234
 GGTGTCCCCCGAGAAGGCCTGTCTCGCCAGCATGTCCTTACTAGAATTGGTGTTATGTCT       c.4500
 G  V  P  R  E  G  L  S  R  Q  H  V  L  T  R  I  G  V  M  S         p.1500

          .      | 31  .         .         .         .         .    g.30616
 TTGATTCGCAAGAAG | GTTCAGGAGTTTGAACATGTTAATGGGCGCTGGAGCATGCCTGAA    c.4560
 L  I  R  K  K   | V  Q  E  F  E  H  V  N  G  R  W  S  M  P  E      p.1520

          .         .         .         .         .         .       g.30676
 CTGGCTGAGGTGGAGGAAAACAAGAAGATGTCCCAGCCAGGGTCACCCTCCCCAAAAACT       c.4620
 L  A  E  V  E  E  N  K  K  M  S  Q  P  G  S  P  S  P  K  T         p.1540

          .         .         .         .         .         .       g.30736
 CCTACACCCTCCACTCCAGGGGACACGCAGCCCAACACTCCTGCACCTGTCCCACCTGCT       c.4680
 P  T  P  S  T  P  G  D  T  Q  P  N  T  P  A  P  V  P  P  A         p.1560

   | 32      .         .         .         .         .         .    g.31056
 G | AAGATGGGATAAAAATAGAGGAAAATAGCCTCAAAGAAGAAGAGAGCATAGAAGGAGAA    c.4740
 E |   D  G  I  K  I  E  E  N  S  L  K  E  E  E  S  I  E  G  E      p.1580

          .         .         .          | 33        .         .    g.31233
 AAGGAGGTTAAATCTACAGCCCCTGAGACTGCCATTGAG | TGTACACAGGCCCCTGCCCCT    c.4800
 K  E  V  K  S  T  A  P  E  T  A  I  E   | C  T  Q  A  P  A  P      p.1600

          .         .         .         .         .         .       g.31293
 GCCTCAGAGGATGAAAAGGTCGTTGTTGAACCCCCTGAGGGAGAGGAGAAAGTGGAAAAG       c.4860
 A  S  E  D  E  K  V  V  V  E  P  P  E  G  E  E  K  V  E  K         p.1620

          .         .         .         .          | 34        .    g.33479
 GCAGAGGTGAAGGAGAGAACAGAGGAACCTATGGAGACAGAGCCCAAAG | GTGCTGCTGAT    c.4920
 A  E  V  K  E  R  T  E  E  P  M  E  T  E  P  K  G |   A  A  D      p.1640

          .         .         .         .         .         .       g.33539
 GTAGAGAAGGTGGAGGAAAAGTCAGCAATAGATCTGACCCCTATTGTGGTAGAAGACAAA       c.4980
 V  E  K  V  E  E  K  S  A  I  D  L  T  P  I  V  V  E  D  K         p.1660

   | 35      .         .         .         .         .         .    g.33898
 G | AAGAGAAGAAAGAAGAAGAAGAGAAAAAAGAGGTGATGCTTCAGAATGGAGAGACCCCC    c.5040
 E |   E  K  K  E  E  E  E  K  K  E  V  M  L  Q  N  G  E  T  P      p.1680

          .         .         .         .         .         .       g.33958
 AAGGACCTGAATGATGAGAAACAGAAGAAAAATATTAAACAACGTTTCATGTTTAACATT       c.5100
 K  D  L  N  D  E  K  Q  K  K  N  I  K  Q  R  F  M  F  N  I         p.1700

          .          | 36        .         .         .         .    g.34289
 GCAGATGGTGGTTTTACTG | AGTTGCACTCCCTTTGGCAGAATGAAGAGCGGGCAGCCACA    c.5160
 A  D  G  G  F  T  E |   L  H  S  L  W  Q  N  E  E  R  A  A  T      p.1720

          .         .         .         .         .         .       g.34349
 GTTACCAAGAAGACTTATGAGATCTGGCATCGACGGCATGACTACTGGCTGCTAGCCGGC       c.5220
 V  T  K  K  T  Y  E  I  W  H  R  R  H  D  Y  W  L  L  A  G         p.1740

          | 37         .         .         .         .         .    g.34520
 ATTATAAA | CCATGGCTATGCCCGGTGGCAAGACATCCAGAATGACCCACGCTATGCCATC    c.5280
 I  I  N  |  H  G  Y  A  R  W  Q  D  I  Q  N  D  P  R  Y  A  I      p.1760

          .         .         .         .         .         .       g.34580
 CTCAATGAGCCTTTCAAGGGTGAAATGAACCGTGGCAATTTCTTAGAGATCAAGAATAAA       c.5340
 L  N  E  P  F  K  G  E  M  N  R  G  N  F  L  E  I  K  N  K         p.1780

          .         .  | 38      .         .         .         .    g.39155
 TTTCTAGCTCGAAGGTTTAAG | CTCTTAGAACAAGCTCTGGTGATTGAGGAACAGCTGCGC    c.5400
 F  L  A  R  R  F  K   | L  L  E  Q  A  L  V  I  E  E  Q  L  R      p.1800

          .         .         .         .         .         .       g.39215
 CGGGCTGCTTACTTGAACATGTCAGAAGACCCTTCTCACCCTTCCATGGCCCTCAACACC       c.5460
 R  A  A  Y  L  N  M  S  E  D  P  S  H  P  S  M  A  L  N  T         p.1820

          .         .         .         .         .         .       g.39275
 CGCTTTGCTGAGGTGGAGTGTTTGGCGGAAAGTCATCAGCACCTGTCCAAGGAGTCAATG       c.5520
 R  F  A  E  V  E  C  L  A  E  S  H  Q  H  L  S  K  E  S  M         p.1840

          .         .         .        | 39.         .         .    g.41376
 GCAGGAAACAAGCCAGCCAATGCAGTCCTGCACAAAG | TTCTGAAACAGCTGGAAGAACTG    c.5580
 A  G  N  K  P  A  N  A  V  L  H  K  V |   L  K  Q  L  E  E  L      p.1860

          .         .         .         .         .         .       g.41436
 CTGAGTGACATGAAAGCTGATGTGACTCGACTCCCAGCTACCATTGCCCGAATTCCCCCA       c.5640
 L  S  D  M  K  A  D  V  T  R  L  P  A  T  I  A  R  I  P  P         p.1880

          .         .         .         .         .         .       g.41496
 GTTGCTGTGAGGTTACAGATGTCAGAGCGTAACATTCTCAGCCGCCTGGCAAACCGGGCA       c.5700
 V  A  V  R  L  Q  M  S  E  R  N  I  L  S  R  L  A  N  R  A         p.1900

          .         .  | 40      .                                  g.41731
 CCCGAACCTACCCCACAGCAG | GTAGCCCAGCAGCAGTGA                         c.5739
 P  E  P  T  P  Q  Q   | V  A  Q  Q  Q  X                           p.1912

          .         .         .         .         .         .       g.41791
 agatgcagactgataccacctccaccgctgagcagtgaccttcctcactttctcttgtcc       c.*60

          .         .         .         .         .         .       g.41851
 cagcttctcccctgggggcctgagagaccctcaccttccttctgcccatcttccatgttg       c.*120

          .         .         .         .         .         .       g.41911
 taaaggaacagccccagtgcactgggggaggggagggagtgaggggcagtggtgcccttc       c.*180

          .         .         .         .         .         .       g.41971
 ctgcagaagagacatgcagcagtagcgctggcgccatctgcaggagctggcgggctggcc       c.*240

          .         .         .         .         .         .       g.42031
 ttctggaccctggcttctccccactgtaacgcctgttacacacaaactgttgtgggttcc       c.*300

          .         .         .         .         .         .       g.42091
 tgccaggcttgaagaaaatgatctgaattttttcctccttttggttttattttgttggtt       c.*360

          .         .         .         .         .         .       g.42151
 tattttgtgttttcttttctcctttttggggggtattcagagtgggctgggcccctgggc       c.*420

          .         .         .         .         .         .       g.42211
 gagacacagctacctctgttggcatctttttaataccaggaacccagcggctctagccac       c.*480

          .         .         .         .         .         .       g.42271
 tgagcggctaaatgaaataaagtggaaaaaaaaaaaaaggaaaaaaccaaaagcataaaa       c.*540

          .         .         .         .         .                 g.42325
 aaccacagcaaatttcttgatgaaaattgaaaataaaagtttccttgtatttta             c.*594

 (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 Chromodomain helicase DNA binding protein 4 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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