arginine-glutamic acid dipeptide (RE) repeats (RERE) - coding DNA reference sequence

(used for variant description)

(last modified August 25, 2022)


This file was created to facilitate the description of sequence variants on transcript NM_001042681.1 in the RERE gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering RERE transcript NM_001042681.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5025
                                    agacgctcgcgagcaaccctccgcg       c.-601

 .         .         .         .         .         .                g.5085
 ctccggagcctcctcagcctcccgcacaccccgagacgctcgccccgctgggcctcggtc       c.-541

 .         .         .         .         .         .                g.5145
 cccgcctcctcccccgtccttttcccctctctcgctccccacattgtctctgcctcattt       c.-481

 .         .         .         .         .         .                g.5205
 tctctcctagttgaggattaaaaaaaaaaaaaaatcaccatcatcctcagggagccccct       c.-421

 .         .         .         .         .         .                g.5265
 cgccctcggaaaacaaaaccagacatgatcctgggctcctgcttctgaaagatctgcccg       c.-361

 .         .         .         .         .         .                g.5325
 accgaggaggagggagcctaggttcaagtcgcaggaaaggtcacggcagggaagccccct       c.-301

 .         .         .         .         .         .                g.5385
 cagcccctccgcgtcgcctccccgcgggccgcccctctcggccctgcgccccgcggcccc       c.-241

 .         .         .         .         .         .                g.5445
 gcagcctccgcgcggcctcccgccccatccccgccactttccccggagctgggccgcgaa       c.-181

 .         .         .         .      | 02  .         .             g.166223
 cacctcactattgatggtgtagcgctttaggggaag | catttttgaaacgttggggttgtt    c.-121

 .         .         .         .         .         .                g.166283
 ggagtggttggattttccctggaattgagtgagaaattcagaagactgaagcccaggctt       c.-61

 .         .         .         .         .         .                g.166343
 actgtctacctttcacggaggcctagccgtgagaggacagaagaaggcacgtggcgaatc       c.-1

          .         .         .         .         .         .       g.166403
 ATGACAGCGGACAAAGACAAAGACAAAGACAAAGAGAAGGACCGGGACCGAGACCGGGAC       c.60
 M  T  A  D  K  D  K  D  K  D  K  E  K  D  R  D  R  D  R  D         p.20

          .         .         .         .         .         .       g.166463
 CGAGAGAGAGAGAAAAGAGACAAAGCAAGAGAGAGTGAGAATTCAAGGCCACGCCGGAGC       c.120
 R  E  R  E  K  R  D  K  A  R  E  S  E  N  S  R  P  R  R  S         p.40

          .         .         .         .         .         .       g.166523
 TGTACCTTGGAAGGAGGAGCCAAAAATTATGCTGAGAGTGATCACAGTGAAGACGAGGAC       c.180
 C  T  L  E  G  G  A  K  N  Y  A  E  S  D  H  S  E  D  E  D         p.60

          .         .         .         .         .         .       g.166583
 AATGACAACAATAGTGCCACCGCAGAGGAGTCCACGAAGAAGAATAAGAAGAAACCACCG       c.240
 N  D  N  N  S  A  T  A  E  E  S  T  K  K  N  K  K  K  P  P         p.80

          .         .         .         .         .         .       g.166643
 AAAAAAAAGTCTCGTTATGAAAGGACAGATACCGGTGAGATAACATCCTACATCACTGAA       c.300
 K  K  K  S  R  Y  E  R  T  D  T  G  E  I  T  S  Y  I  T  E         p.100

          .         .      | 03  .         .         .         .    g.198295
 GATGATGTGGTCTACAGACCAGGAG | ACTGTGTGTATATCGAGAGTCGGAGGCCAAACACA    c.360
 D  D  V  V  Y  R  P  G  D |   C  V  Y  I  E  S  R  R  P  N  T      p.120

          .         .         .       | 04 .         .         .    g.207978
 CCGTATTTCATCTGTAGCATTCAAGACTTCAAACTG | GTCCACAACTCCCAGGCCTGTTGC    c.420
 P  Y  F  I  C  S  I  Q  D  F  K  L   | V  H  N  S  Q  A  C  C      p.140

          .         .         .         .         .         .       g.208038
 AGATCTCCAACTCCTGCTTTGTGTGACCCCCCAGCATGCTCTCTGCCGGTGGCATCACAG       c.480
 R  S  P  T  P  A  L  C  D  P  P  A  C  S  L  P  V  A  S  Q         p.160

          .         .         .         .   | 05     .         .    g.265135
 CCACCACAGCATCTTTCTGAAGCCGGGAGAGGGCCTGTAGGG | AGTAAGAGGGACCATCTC    c.540
 P  P  Q  H  L  S  E  A  G  R  G  P  V  G   | S  K  R  D  H  L      p.180

          .         .         .         .         .         .       g.265195
 CTCATGAACGTCAAATGGTACTACCGTCAATCTGAGGTTCCAGATTCTGTGTATCAGCAT       c.600
 L  M  N  V  K  W  Y  Y  R  Q  S  E  V  P  D  S  V  Y  Q  H         p.200

          .         .         | 06         .         .         .    g.266101
 TTGGTTCAGGATCGACATAATGAAAATG | ACTCTGGAAGAGAACTTGTCATTACAGACCCA    c.660
 L  V  Q  D  R  H  N  E  N  D |   S  G  R  E  L  V  I  T  D  P      p.220

          .         .         .         .         .         .       g.266161
 GTTATCAAGAACCGAGAGCTCTTCATTTCTGATTACGTTGACACTTACCATGCTGCTGCC       c.720
 V  I  K  N  R  E  L  F  I  S  D  Y  V  D  T  Y  H  A  A  A         p.240

       | 07  .         .         .         .         .         .    g.281377
 CTTAG | AGGGAAGTGTAACATCTCCCATTTTTCTGACATATTTGCTGCTAGAGAGTTTAAA    c.780
 L  R  |  G  K  C  N  I  S  H  F  S  D  I  F  A  A  R  E  F  K      p.260

          .         .         .         .         . | 08       .    g.313975
 GCCCGAGTGGATTCATTTTTCTACATATTAGGATATAACCCTGAGACAAG | GAGGCTGAAC    c.840
 A  R  V  D  S  F  F  Y  I  L  G  Y  N  P  E  T  R  |  R  L  N      p.280

          .         .         .          | 09        .         .    g.325131
 AGTACCCAGGGGGAGATTCGTGTCGGTCCTAGTCATCAG | GCCAAACTTCCAGATCTGCAA    c.900
 S  T  Q  G  E  I  R  V  G  P  S  H  Q   | A  K  L  P  D  L  Q      p.300

          .         .         .         .         .         .       g.325191
 CCATTTCCTTCTCCAGATGGTGATACAGTGACCCAACATGAGGAACTGGTCTGGATGCCT       c.960
 P  F  P  S  P  D  G  D  T  V  T  Q  H  E  E  L  V  W  M  P         p.320

          .         .         .         .     | 10   .         .    g.327493
 GGAGTTAACGACTGTGACCTCCTTATGTACTTGAGGGCAGCAAG | GAGCATGGCGGCATTT    c.1020
 G  V  N  D  C  D  L  L  M  Y  L  R  A  A  R  |  S  M  A  A  F      p.340

          .         .         .         .         .         .       g.327553
 GCAGGAATGTGTGATGGAGGCTCTACAGAGGACGGCTGTGTCGCAGCCTCTCGGGATGAC       c.1080
 A  G  M  C  D  G  G  S  T  E  D  G  C  V  A  A  S  R  D  D         p.360

          .         .     | 11   .         .         .         .    g.356652
 ACCACTCTGAATGCACTGAACACA | CTGCATGAAAGCGGTTACGATGCTGGCAAAGCCCTG    c.1140
 T  T  L  N  A  L  N  T   | L  H  E  S  G  Y  D  A  G  K  A  L      p.380

          .         .         .         .         .         .       g.356712
 CAGCGCCTGGTGAAGAAGCCTGTGCCCAAGCTCATCGAGAAGTGCTGGACCGAGGACGAA       c.1200
 Q  R  L  V  K  K  P  V  P  K  L  I  E  K  C  W  T  E  D  E         p.400

     | 12    .         .         .         .         .         .    g.399889
 GTG | AAACGCTTCGTTAAGGGACTCAGGCAGTACGGGAAGAACTTCTTCAGAATTAGAAAG    c.1260
 V   | K  R  F  V  K  G  L  R  Q  Y  G  K  N  F  F  R  I  R  K      p.420

          .         .     | 13   .         .         .         .    g.456701
 GAGCTGCTTCCCAATAAGGAAACA | GGGGAGCTGATCACCTTCTATTACTATTGGAAGAAG    c.1320
 E  L  L  P  N  K  E  T   | G  E  L  I  T  F  Y  Y  Y  W  K  K      p.440

          .         .         .         .         .         .       g.456761
 ACCCCCGAAGCAGCCAGCTCCCGAGCCCATCGTAGGCACCGCAGGCAGGCCGTGTTCAGG       c.1380
 T  P  E  A  A  S  S  R  A  H  R  R  H  R  R  Q  A  V  F  R         p.460

          .         .         .         .         .         .       g.456821
 AGGATTAAGACTCGCACCGCGTCCACACCCGTCAACACACCCTCCAGACCCCCGTCCAGT       c.1440
 R  I  K  T  R  T  A  S  T  P  V  N  T  P  S  R  P  P  S  S         p.480

         | 14.         .         .         .         .         .    g.457854
 GAATTCT | TGGACCTAAGTTCAGCCAGTGAAGATGACTTCGACAGTGAGGACAGTGAGCAG    c.1500
 E  F  L |   D  L  S  S  A  S  E  D  D  F  D  S  E  D  S  E  Q      p.500

          .         .         .         . | 15       .         .    g.458404
 GAGCTGAAGGGGTACGCCTGCCGCCACTGCTTCACCACCA | CCTCCAAAGATTGGCACCAC    c.1560
 E  L  K  G  Y  A  C  R  H  C  F  T  T  T |   S  K  D  W  H  H      p.520

          .         .         .         .         .         .       g.458464
 GGAGGCCGGGAGAACATCCTGCTTTGCACCGACTGTCGCATCCACTTCAAGAAATACGGT       c.1620
 G  G  R  E  N  I  L  L  C  T  D  C  R  I  H  F  K  K  Y  G         p.540

          .         .         .         .         .         .       g.458524
 GAGCTCCCGCCCATTGAGAAGCCCGTGGACCCGCCACCGTTTATGTTCAAACCCGTCAAG       c.1680
 E  L  P  P  I  E  K  P  V  D  P  P  P  F  M  F  K  P  V  K         p.560

          .         .         .         .         .         .       g.458584
 GAAGAGGATGATGGGCTCAGTGGGAAGCATAGCATGAGGACACGGCGGAGTCGGGGCTCG       c.1740
 E  E  D  D  G  L  S  G  K  H  S  M  R  T  R  R  S  R  G  S         p.580

  | 16       .         .         .         .         .         .    g.459855
  | ATGTCGACACTACGCAGTGGTCGGAAGAAGCAGCCAGCCAGCCCTGATGGTCGCACCTCA    c.1800
  | M  S  T  L  R  S  G  R  K  K  Q  P  A  S  P  D  G  R  T  S      p.600

          .         .         .         .         .         .       g.459915
 CCCATCAATGAAGACATCCGCTCCAGCGGCCGGAACTCCCCCAGCGCTGCCAGTACCTCC       c.1860
 P  I  N  E  D  I  R  S  S  G  R  N  S  P  S  A  A  S  T  S         p.620

          .         .         .         .   | 17     .         .    g.460781
 AGCAATGACAGTAAAGCAGAGACAGTGAAGAAGTCGGCCAAG | AAGGTGAAGGAGGAAGCC    c.1920
 S  N  D  S  K  A  E  T  V  K  K  S  A  K   | K  V  K  E  E  A      p.640

          .         .         .         .         .         .       g.460841
 TCTTCCCCTCTTAAGAGTAACAAACGCCAGCGGGAGAAGGTGGCCTCTGATACGGAGGAG       c.1980
 S  S  P  L  K  S  N  K  R  Q  R  E  K  V  A  S  D  T  E  E         p.660

          .         .         .       | 18 .         .         .    g.461173
 GCTGACAGGACCAGCTCCAAGAAGACAAAAACGCAG | GAGATCAGCAGGCCCAACTCGCCA    c.2040
 A  D  R  T  S  S  K  K  T  K  T  Q   | E  I  S  R  P  N  S  P      p.680

          .         .         .         .         .         .       g.461233
 TCTGAAGGTGAGGGAGAGAGTTCAGACAGTCGCAGCGTCAACGATGAGGGTAGCAGTGAC       c.2100
 S  E  G  E  G  E  S  S  D  S  R  S  V  N  D  E  G  S  S  D         p.700

          .         .         .         .         .         .       g.461293
 CCCAAAGACATCGACCAGGACAATCGCAGCACGTCCCCGAGCATCCCCAGCCCCCAGGAC       c.2160
 P  K  D  I  D  Q  D  N  R  S  T  S  P  S  I  P  S  P  Q  D         p.720

          .         .         .         .         .         .       g.461353
 AATGAGAGTGACTCGGACTCGTCAGCCCAGCAGCAGATGCTGCAGGCCCAGCCCCCAGCC       c.2220
 N  E  S  D  S  D  S  S  A  Q  Q  Q  M  L  Q  A  Q  P  P  A         p.740

          .         .         .         .         .         .       g.461413
 TTGCAGGCTCCCACTGGGGTCACCCCAGCTCCCTCCTCAGCTCCTCCAGGGACCCCTCAG       c.2280
 L  Q  A  P  T  G  V  T  P  A  P  S  S  A  P  P  G  T  P  Q         p.760

          .         .         .         .         .         .       g.461473
 CTGCCCACGCCAGGGCCCACGCCCTCTGCCACTGCAGTTCCCCCACAGGGCTCCCCCACG       c.2340
 L  P  T  P  G  P  T  P  S  A  T  A  V  P  P  Q  G  S  P  T         p.780

          .         .         .         .         .         .       g.461533
 GCCTCCCAGGCCCCTAACCAGCCACAGGCTCCCACAGCGCCTGTTCCCCACACCCACATC       c.2400
 A  S  Q  A  P  N  Q  P  Q  A  P  T  A  P  V  P  H  T  H  I         p.800

          .         .         .         .         .         .       g.461593
 CAACAGGCACCGGCCTTGCACCCCCAGCGGCCGCCCTCACCGCATCCCCCGCCGCATCCC       c.2460
 Q  Q  A  P  A  L  H  P  Q  R  P  P  S  P  H  P  P  P  H  P         p.820

          .         .         .         .         .         .       g.461653
 TCGCCACATCCCCCGCTGCAGCCTCTGACTGGGTCGGCGGGCCAGCCTTCTGCACCCTCT       c.2520
 S  P  H  P  P  L  Q  P  L  T  G  S  A  G  Q  P  S  A  P  S         p.840

          .         .         .         .         .         .       g.461713
 CATGCCCAGCCCCCACTGCACGGTCAGGGCCCACCCGGCCCTCACAGCCTGCAGGCTGGG       c.2580
 H  A  Q  P  P  L  H  G  Q  G  P  P  G  P  H  S  L  Q  A  G         p.860

          .         .         .         .         .         .       g.461773
 CCCCTGCTGCAGCACCCAGGCCCCCCACAGCCCTTTGGCCTCCCTCCCCAGGCCTCCCAA       c.2640
 P  L  L  Q  H  P  G  P  P  Q  P  F  G  L  P  P  Q  A  S  Q         p.880

          .         .         .         .         .         .       g.461833
 GGCCAGGCCCCTCTGGGGACCTCCCCAGCAGCAGCGTACCCTCACACCTCCCTGCAGCTG       c.2700
 G  Q  A  P  L  G  T  S  P  A  A  A  Y  P  H  T  S  L  Q  L         p.900

          .         .         .         .         .         .       g.461893
 CCAGCCTCTCAGTCAGCGCTGCAGTCCCAACAGCCTCCACGGGAGCAGCCCCTGCCACCA       c.2760
 P  A  S  Q  S  A  L  Q  S  Q  Q  P  P  R  E  Q  P  L  P  P         p.920

          .         .         .         .         .         .       g.461953
 GCGCCCTTGGCCATGCCCCACATCAAGCCCCCGCCTACCACTCCCATCCCCCAGCTGCCG       c.2820
 A  P  L  A  M  P  H  I  K  P  P  P  T  T  P  I  P  Q  L  P         p.940

          .         .         .         .         .         .       g.462013
 GCGCCACAGGCCCACAAGCACCCTCCCCACCTCTCGGGGCCCTCACCCTTCTCCATGAAT       c.2880
 A  P  Q  A  H  K  H  P  P  H  L  S  G  P  S  P  F  S  M  N         p.960

          .         .         .         .         .         .       g.462073
 GCCAACCTGCCTCCCCCTCCAGCCCTGAAGCCCCTGAGCTCCCTGTCCACACATCACCCC       c.2940
 A  N  L  P  P  P  P  A  L  K  P  L  S  S  L  S  T  H  H  P         p.980

          .         .         .         .         .         .       g.462133
 CCGTCGGCTCACCCCCCACCCCTGCAACTCATGCCTCAGAGCCAGCCATTGCCCTCCTCG       c.3000
 P  S  A  H  P  P  P  L  Q  L  M  P  Q  S  Q  P  L  P  S  S         p.1000

          .         .         .         .         .         .       g.462193
 CCCGCCCAGCCCCCCGGGCTGACCCAGAGCCAGAACCTGCCCCCGCCCCCTGCCTCCCAC       c.3060
 P  A  Q  P  P  G  L  T  Q  S  Q  N  L  P  P  P  P  A  S  H         p.1020

          .         .         .         .         .         .       g.462253
 CCCCCTACAGGCCTCCACCAGGTGGCCCCCCAACCCCCGTTTGCTCAGCACCCCTTTGTC       c.3120
 P  P  T  G  L  H  Q  V  A  P  Q  P  P  F  A  Q  H  P  F  V         p.1040

          .         .         .         .         .         .       g.462313
 CCTGGAGGCCCTCCTCCCATCACCCCTCCGACCTGCCCCTCCACCTCTACCCCACCGGCG       c.3180
 P  G  G  P  P  P  I  T  P  P  T  C  P  S  T  S  T  P  P  A         p.1060

          .         .         .         .         .         .       g.462373
 GGACCTGGCACCTCGGCCCAGCCACCCTGCTCTGGTGCGGCGGCTTCAGGAGGCAGCATA       c.3240
 G  P  G  T  S  A  Q  P  P  C  S  G  A  A  A  S  G  G  S  I         p.1080

          .         .         .         .         .         .       g.462433
 GCGGGGGGGTCGTCCTGCCCACTCCCCACCGTCCAGATCAAGGAGGAGGCTCTGGACGAC       c.3300
 A  G  G  S  S  C  P  L  P  T  V  Q  I  K  E  E  A  L  D  D         p.1100

          .         .         .         .         .         .       g.462493
 GCTGAGGAGCCTGAGAGCCCCCCTCCCCCACCAAGGAGCCCGTCCCCGGAGCCCACTGTG       c.3360
 A  E  E  P  E  S  P  P  P  P  P  R  S  P  S  P  E  P  T  V         p.1120

          .         .         .      | 19  .         .         .    g.462678
 GTGGACACCCCCAGTCACGCCAGCCAGTCAGCTAG | GTTCTACAAACACCTGGACCGGGGC    c.3420
 V  D  T  P  S  H  A  S  Q  S  A  R  |  F  Y  K  H  L  D  R  G      p.1140

          .         .         .         .         .         .       g.462738
 TACAACTCGTGTGCCCGGACAGACCTGTACTTCATGCCTCTGGCCGGGTCCAAGCTGGCC       c.3480
 Y  N  S  C  A  R  T  D  L  Y  F  M  P  L  A  G  S  K  L  A         p.1160

          .         .         .         .         .         .       g.462798
 AAGAAGAGGGAGGAGGCCATTGAGAAGGCCAAGCGCGAGGCTGAGCAGAAAGCCCGAGAG       c.3540
 K  K  R  E  E  A  I  E  K  A  K  R  E  A  E  Q  K  A  R  E         p.1180

          .         .         .         .         .         .       g.462858
 GAGCGAGAGCGGGAGAAGGAGAAGGAGAAGGAGCGGGAGCGGGAGCGAGAGCGGGAGCGC       c.3600
 E  R  E  R  E  K  E  K  E  K  E  R  E  R  E  R  E  R  E  R         p.1200

          .         | 20         .         .         .         .    g.463765
 GAGGCAGAGCGGGCGGCT | AAGGCGTCCAGCTCAGCGCATGAAGGTCGCCTCAGTGACCCA    c.3660
 E  A  E  R  A  A   | K  A  S  S  S  A  H  E  G  R  L  S  D  P      p.1220

          .         .         .         .         .         .       g.463825
 CAGCTCAGTGGTCCTGGCCACATGCGGCCATCCTTCGAGCCACCACCAACCACCATTGCT       c.3720
 Q  L  S  G  P  G  H  M  R  P  S  F  E  P  P  P  T  T  I  A         p.1240

          .         .         .         .         .         .       g.463885
 GCTGTGCCCCCCTACATCGGGCCCGACACACCTGCCCTTCGGACTCTGAGCGAGTACGCC       c.3780
 A  V  P  P  Y  I  G  P  D  T  P  A  L  R  T  L  S  E  Y  A         p.1260

          .         .         .         .         .         .       g.463945
 CGGCCCCACGTCATGTCGCCCACCAACCGCAACCACCCCTTCTACATGCCCCTTAACCCC       c.3840
 R  P  H  V  M  S  P  T  N  R  N  H  P  F  Y  M  P  L  N  P         p.1280

          .         .         .         .         .         .       g.464005
 ACGGACCCCCTGCTGGCCTACCACATGCCTGGCCTCTACAACGTCGACCCCACCATCCGC       c.3900
 T  D  P  L  L  A  Y  H  M  P  G  L  Y  N  V  D  P  T  I  R         p.1300

          .         .         .         .         .         .       g.464065
 GAGCGGGAGCTCCGGGAGCGGGAGATCCGAGAGCGGGAGATCCGAGAGCGGGAGCTGCGG       c.3960
 E  R  E  L  R  E  R  E  I  R  E  R  E  I  R  E  R  E  L  R         p.1320

          .         .         .         .         .         .       g.464125
 GAGAGGATGAAGCCGGGCTTCGAGGTGAAGCCCCCAGAGCTGGACCCCCTGCACCCAGCC       c.4020
 E  R  M  K  P  G  F  E  V  K  P  P  E  L  D  P  L  H  P  A         p.1340

          .         .         .         .         .         .       g.464185
 GCCAACCCCATGGAGCACTTTGCCCGGCACAGCGCCCTCACCATCCCCCCGACCGCCGGG       c.4080
 A  N  P  M  E  H  F  A  R  H  S  A  L  T  I  P  P  T  A  G         p.1360

          .         .         .         .         .         .       g.464245
 CCCCACCCTTTTGCTTCTTTCCACCCGGGCCTGAACCCCTTGGAGAGGGAGAGACTGGCC       c.4140
 P  H  P  F  A  S  F  H  P  G  L  N  P  L  E  R  E  R  L  A         p.1380

          .         .         .         .         .         .       g.464305
 CTGGCGGGCCCCCAGCTGCGGCCCGAGATGAGCTACCCTGACAGACTGGCAGCCGAGCGT       c.4200
 L  A  G  P  Q  L  R  P  E  M  S  Y  P  D  R  L  A  A  E  R         p.1400

          .         .         .         .         .         .       g.464365
 ATCCACGCAGAGCGCATGGCATCGCTGACCAGCGATCCCCTGGCCCGACTGCAGATGTTC       c.4260
 I  H  A  E  R  M  A  S  L  T  S  D  P  L  A  R  L  Q  M  F         p.1420

          .         .         .         .         .         .       g.464425
 AACGTGACTCCGCACCATCACCAGCACTCTCACATTCACTCCCACCTCCACCTCCACCAG       c.4320
 N  V  T  P  H  H  H  Q  H  S  H  I  H  S  H  L  H  L  H  Q         p.1440

          .          | 21        .         .         .         .    g.466434
 CAGGACCCCCTCCACCAAG | GTTCAGCAGGCCCCGTTCACCCGCTGGTCGACCCCCTGACT    c.4380
 Q  D  P  L  H  Q  G |   S  A  G  P  V  H  P  L  V  D  P  L  T      p.1460

          .         .         .         .         .         .       g.466494
 GCCGGTCCCCACCTGGCTCGCTTCCCCTACCCGCCTGGCACTCTCCCCAACCCTCTGCTT       c.4440
 A  G  P  H  L  A  R  F  P  Y  P  P  G  T  L  P  N  P  L  L         p.1480

          .         .         .         .       | 22 .         .    g.467054
 GGACAGCCCCCACACGAGCACGAGATGCTTCGCCACCCAGTTTTCG | GCACCCCCTACCCC    c.4500
 G  Q  P  P  H  E  H  E  M  L  R  H  P  V  F  G |   T  P  Y  P      p.1500

          .         .         .         .         .         .       g.467114
 CGTGACCTGCCTGGGGCCATCCCACCCCCCATGTCAGCAGCCCACCAGCTGCAGGCCATG       c.4560
 R  D  L  P  G  A  I  P  P  P  M  S  A  A  H  Q  L  Q  A  M         p.1520

          .         .         .         .         .         .       g.467174
 CATGCCCAGTCGGCCGAGCTGCAGAGACTGGCCATGGAGCAGCAGTGGCTGCATGGACAC       c.4620
 H  A  Q  S  A  E  L  Q  R  L  A  M  E  Q  Q  W  L  H  G  H         p.1540

          .         .         .         .        | 23.         .    g.467532
 CCCCACATGCATGGTGGCCACCTACCAAGTCAGGAAGATTATTACAG | TCGACTGAAGAAA    c.4680
 P  H  M  H  G  G  H  L  P  S  Q  E  D  Y  Y  S  |  R  L  K  K      p.1560

          .         .                                               g.467553
 GAAGGTGACAAGCAGTTATAA                                              c.4701
 E  G  D  K  Q  L  X                                                p.1566

          .         .         .         .         .         .       g.467613
 gttatttatttgttaacgctggctgtggaaaccccagttcttggggggagaaacaggact       c.*60

          .         .         .         .         .         .       g.467673
 ttttacataaaataggagctgcaaaagcaaaaagaatatcttctaaagatttctttatat       c.*120

          .         .         .         .         .         .       g.467733
 atttaaaaacccacaactaaaaatgtatccacatagtagtgttcgtttgtcgagaggatt       c.*180

          .         .         .         .         .         .       g.467793
 tcctgagactggtttggatctccctgcatgacagtcccccagaaacttagtgagtcctgg       c.*240

          .         .         .         .         .         .       g.467853
 actggactgaacatccagaaagcttccctgcaatcttggggtttggctttagttttcttt       c.*300

          .         .         .         .         .         .       g.467913
 tccttgatttctcagtaggtgctagaatccagttcacacccttcactgtgcgtgcagaca       c.*360

          .         .         .         .         .         .       g.467973
 cactgacacactccgccacgagtgctccagagcccacgaggcttgcagatcgggggcata       c.*420

          .         .         .         .         .         .       g.468033
 ggaatttggaatccaagagctataatttttaaaaaaaaaaatcttttattttaatacatt       c.*480

          .         .         .         .         .         .       g.468093
 gtaggaaatcttcataattggagaaagttctgcagcatggctttttacgtctgtaaataa       c.*540

          .         .         .         .         .         .       g.468153
 ataattttagaacagcctttttttcttccataaactactattgtgatctattttttccag       c.*600

          .         .         .         .         .         .       g.468213
 ccatgtcactaattgtgaattcctaccaactattgacagaatacagagttgattttttaa       c.*660

          .         .         .         .         .         .       g.468273
 taaaaagttatatataattatccctttaattaaagggagcaaaggggcgttccacatgga       c.*720

          .         .         .         .         .         .       g.468333
 cagaggcttggaccgaggcctggtcacagcagcgagcatccagggtttgcagggacgatg       c.*780

          .         .         .         .         .         .       g.468393
 ttacagactctgttttctgcctggcgtttcacttgtgtctgctcctagcctgtgctctgc       c.*840

          .         .         .         .         .         .       g.468453
 cagcagcacagacatctgctccatcagacctcttccattttgcacagggagtgcaggagg       c.*900

          .         .         .         .         .         .       g.468513
 tgaatgttcactttctgttctccagtgtcactgttctgtttccacgggatggaaagcgca       c.*960

          .         .         .         .         .         .       g.468573
 tgggcctgtgtccattgtagatttccttctagatttctgtgtacacacacttgattgttc       c.*1020

          .         .         .         .         .         .       g.468633
 tggatgaatgtcttttttaatactccgaaaatttcatcatctaagaaaatgattccatac       c.*1080

          .         .         .         .         .         .       g.468693
 aaataactcagcacacaagtgacccaggacatatgcctgccaaagggatgtgttagaagg       c.*1140

          .         .         .         .         .         .       g.468753
 ctgccttctcatgcgcattgtcacttggatcttgtggtgaggacggccccatctttcttg       c.*1200

          .         .         .         .         .         .       g.468813
 ccacagattgaggccacttttgagcaagggagatcctggagttaagacaggtgttggggg       c.*1260

          .         .         .         .         .         .       g.468873
 cagcctgtattttaccctaggggcaggtctgcatggtgaccccacattgcactggtaaac       c.*1320

          .         .         .         .         .         .       g.468933
 catttgagtcccactcttcatcctggaagtgggaactggagtcccacccacagtgcattc       c.*1380

          .         .         .         .         .         .       g.468993
 agaaagcatgctgtgtgggggctgcttctcaggaggccaggcccttctgagcggaaccgt       c.*1440

          .         .         .         .         .         .       g.469053
 cctggagagagcctgccctcgtttccaggctgcagccgtaacgcactttctcccaggctg       c.*1500

          .         .         .         .         .         .       g.469113
 agggcgggtgttctggggtgtctgccctctgtcggccctgcttcctgccaggacgtggcc       c.*1560

          .         .         .         .         .         .       g.469173
 tcttccgatccttttctctcagacactggaggtctcttctgccattgtgctggtcccatc       c.*1620

          .         .         .         .         .         .       g.469233
 ccaagaattgtaggacagagaccacactgggtcggcggacacaaagtccatccaggaccc       c.*1680

          .         .         .         .         .         .       g.469293
 aggccgcagagggagcaggaagagatgctgatagtttgatctagaaaccagcagctactg       c.*1740

          .         .         .         .         .         .       g.469353
 gctcaaattcaggttctggcgtcaaatagcgacatttccagtttctcttaaaaaccgtgt       c.*1800

          .         .         .         .         .         .       g.469413
 ttggtttcagttgggataggcttgttttgtctgttgaaaatgtttctagttttttttctt       c.*1860

          .         .         .         .         .         .       g.469473
 tcatttttctctcattccatttctgccttaactttagtttgttcacagggaggcaaagct       c.*1920

          .         .         .         .         .         .       g.469533
 gacatgaaccttttgtcgtgggacttcaggccacattggcttgaaggcattcgtttcctt       c.*1980

          .         .         .         .         .         .       g.469593
 ctggggtggggacaggccctcatggcaggcttgttcccgtggctctgagcgaggcctctt       c.*2040

          .         .         .         .         .         .       g.469653
 cctgctgggctcccagactcctgcatccaggcccccaccttctcggcttctggtttttct       c.*2100

          .         .         .         .         .         .       g.469713
 ttctttttggtagaacacaacatctaccattcagttaaaccttctttatctcctcctttg       c.*2160

          .         .         .         .         .         .       g.469773
 gcatccatttttccaaagaagagtcgagtcctctgaggtctgtgcttgaaagccgtccga       c.*2220

          .         .         .         .         .         .       g.469833
 aggcattcttgttagctttgcttttctccccatatcccaaggcgaagcgctgagattctt       c.*2280

          .         .         .         .         .         .       g.469893
 ccatctaaaaaaccctcgacccgaaaccctcaccagataaactacagtttgtttaggagg       c.*2340

          .         .         .         .         .         .       g.469953
 ccctgaccttcatggtgtctttgaagcccaaccactcggtttccttcggattttcctccc       c.*2400

          .         .         .         .         .         .       g.470013
 tttgttcggggtttggtttggctcctctgtgtgtgtccgtatcttgttcggtgtcctcga       c.*2460

          .         .         .         .         .         .       g.470073
 ggttgagcttcactccactgcggcagaggcagcgtgcacactcggatttgctacgtttct       c.*2520

          .         .         .         .         .         .       g.470133
 atatatcttgaagctaaatgtatatatgagtagtttgccatgagataacacagtgtaaac       c.*2580

          .         .         .         .         .         .       g.470193
 agtagacacccagaaatcgtgacttctgtgttctctccatttgagtattttgtaattttt       c.*2640

          .         .         .         .                           g.470236
 ttgaaatatttgtggacataaataaaaccaagctacactacaa                        c.*2683

 (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 Arginine-glutamic acid dipeptide (RE) repeats 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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