tectonin beta-propeller repeat containing 2 (TECPR2) - coding DNA reference sequence

(used for variant description)

(last modified October 26, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_014844.3 in the TECPR2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_042851.1, covering TECPR2 transcript NM_014844.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5046
               cccccggcggagccagctgctgctcttcggtgctggccccggtgcc       c.-181

 .         .         .         .         .         .                g.5106
 ggccccgttgcccagggaacaggctcccggcagcccccgcggcccggagtccatcccgcc       c.-121

 .         .         .         .         .        | 02.             g.18699
 tcctccggcccggcggggccgacgagtccggaggggctgccgcgggag | cccccaggtttc    c.-61

 .         .         .         .         .         .                g.18759
 cctagatgacaaataaacattccttttcctgcgtgaagatagtctgtggaaaccttggcc       c.-1

          .         .         .         .         .         .       g.18819
 ATGGCATCGATATCAGAGCCTGTTACATTCAGAGAGTTCTGCCCGTTGTACTATCTCCTC       c.60
 M  A  S  I  S  E  P  V  T  F  R  E  F  C  P  L  Y  Y  L  L         p.20

          .         .         .         .         .         .       g.18879
 AATGCCATTCCGACAAAGATCCAGAAGGGTTTCCGCTCTATCGTGGTCTATCTCACGGCC       c.120
 N  A  I  P  T  K  I  Q  K  G  F  R  S  I  V  V  Y  L  T  A         p.40

          .         .         .         .         .         .       g.18939
 CTCGACACCAACGGGGACTACATCGCGGTGGGCAGCAGCATCGGCATGCTCTATCTGTAC       c.180
 L  D  T  N  G  D  Y  I  A  V  G  S  S  I  G  M  L  Y  L  Y         p.60

          .         .         .          | 03        .         .    g.49396
 TGCCGGCACCTCAACCAGATGAGGAAGTACAACTTTGAG | GGGAAGACGGAATCTATCACT    c.240
 C  R  H  L  N  Q  M  R  K  Y  N  F  E   | G  K  T  E  S  I  T      p.80

          .         .         .         .         .         .       g.49456
 GTGGTGAAGCTGCTGAGCTGCTTTGATGACCTGGTGGCAGCAGGCACAGCCTCTGGCAGG       c.300
 V  V  K  L  L  S  C  F  D  D  L  V  A  A  G  T  A  S  G  R         p.100

          .         .         .         .         | 04         .    g.50537
 GTTGCAGTTTTTCAACTTGTATCTTCATTGCCAGGGAGAAATAAACAG | CTTCGGAGATTT    c.360
 V  A  V  F  Q  L  V  S  S  L  P  G  R  N  K  Q   | L  R  R  F      p.120

          .         .         .         .         .         .       g.50597
 GATGTCACTGGTATTCACAAAAATAGCATTACAGCTCTGGCTTGGAGCCCCAATGGAATG       c.420
 D  V  T  G  I  H  K  N  S  I  T  A  L  A  W  S  P  N  G  M         p.140

          .         .         .         .         .         .       g.50657
 AAATTGTTCTCTGGAGATGACAAAGGCAAAATTGTTTATTCTTCTCTGGATCTAGACCAG       c.480
 K  L  F  S  G  D  D  K  G  K  I  V  Y  S  S  L  D  L  D  Q         p.160

  | 05       .         .         .         .         .         .    g.56733
  | GGGCTCTGTAACTCCCAGCTGGTGTTGGAGGAGCCATCTTCCATTGTGCAGCTGGATTAT    c.540
  | G  L  C  N  S  Q  L  V  L  E  E  P  S  S  I  V  Q  L  D  Y      p.180

          .         .         .         .         .         .       g.56793
 AGCCAGAAAGTGCTGCTGGTCTCTACTCTGCAAAGAAGTCTGCTCTTTTACACTGAAGAA       c.600
 S  Q  K  V  L  L  V  S  T  L  Q  R  S  L  L  F  Y  T  E  E         p.200

          .         .         .         | 06         .         .    g.67038
 AAGTCTGTAAGGCAAATTGGAACACAACCAAGGAAAAG | TACTGGGAAATTTGGTGCTTGT    c.660
 K  S  V  R  Q  I  G  T  Q  P  R  K  S  |  T  G  K  F  G  A  C      p.220

          .         .         .         .         .         .       g.67098
 TTTATACCAGGACTCTGTAAGCAAAGTGATCTAACCTTGTATGCGTCACGGCCCGGGCTC       c.720
 F  I  P  G  L  C  K  Q  S  D  L  T  L  Y  A  S  R  P  G  L         p.240

          .         .         .         .         .         .       g.67158
 CGGCTATGGAAGGCTGATGTCCACGGGACTGTTCAAGCCACGTTTATCTTAAAAGATGCT       c.780
 R  L  W  K  A  D  V  H  G  T  V  Q  A  T  F  I  L  K  D  A         p.260

          .         .         .         .         .         .       g.67218
 TTTGCCGGGGGAGTCAAGCCTTTTGAACTGCACCCGCGTCTGGAATCCCCCAACAGTGGA       c.840
 F  A  G  G  V  K  P  F  E  L  H  P  R  L  E  S  P  N  S  G         p.280

          .         .         .         .         .         .       g.67278
 AGTTGCAGCTTACCTGAGAGGCACCTGGGGCTTGTTTCATGTTTCTTTCAAGAAGGCTGG       c.900
 S  C  S  L  P  E  R  H  L  G  L  V  S  C  F  F  Q  E  G  W         p.300

          .         .         .         .         .  | 07      .    g.70296
 GTGCTGAGTTGGAATGAATATAGTATCTATCTCCTAGACACAGTCAACCAG | GCCACAGTT    c.960
 V  L  S  W  N  E  Y  S  I  Y  L  L  D  T  V  N  Q   | A  T  V      p.320

          .         .         .         .         .         .       g.70356
 GCTGGTTTGGAAGGATCCGGTGATATTGTGTCTGTTTCGTGCACAGAAAATGAAATATTT       c.1020
 A  G  L  E  G  S  G  D  I  V  S  V  S  C  T  E  N  E  I  F         p.340

          .         .         .         .         .         .       g.70416
 TTCTTGAAAGGAGATAGGAACATTATAAGAATTTCAAGCAGGCCTGAAGGATTAACATCA       c.1080
 F  L  K  G  D  R  N  I  I  R  I  S  S  R  P  E  G  L  T  S         p.360

      | 08   .         .         .         .         .         .    g.73889
 ACAG | TGAGAGATGGTCTGGAGATGTCTGGATGCTCAGAGCGTGTCCACGTGCAGCAAGCG    c.1140
 T  V |   R  D  G  L  E  M  S  G  C  S  E  R  V  H  V  Q  Q  A      p.380

          .         .         .         .         .         .       g.73949
 GAGAAGCTGCCAGGGGCCACAGTTTCTGAGACGAGGCTCAGAGGCTCTTCCATGGCCAGC       c.1200
 E  K  L  P  G  A  T  V  S  E  T  R  L  R  G  S  S  M  A  S         p.400

          .         .         .         .         .         .       g.74009
 TCCGTGGCCAGCGAGCCAAGGAGCAGGAGCAGCTCGCTCAACTCCACCGACAGCGGCTCC       c.1260
 S  V  A  S  E  P  R  S  R  S  S  S  L  N  S  T  D  S  G  S         p.420

          .         .         .         .         .         .       g.74069
 GGGCTCCTGCCCCCTGGGCTCCAGGCCACCCCTGAGCTGGGCAAGGGCAGCCAGCCCCTG       c.1320
 G  L  L  P  P  G  L  Q  A  T  P  E  L  G  K  G  S  Q  P  L         p.440

          .         .         .         .         .         .       g.74129
 TCACAGAGATTCAACGCCATCAGCTCAGAGGACTTTGACCAGGAGCTTGTCGTGAAGCCT       c.1380
 S  Q  R  F  N  A  I  S  S  E  D  F  D  Q  E  L  V  V  K  P         p.460

          .         .         .        | 09.         .         .    g.76295
 ATCAAAGTGAAAAGGAAGAAGAAGAAGAAGAAGACAG | AAGGTGGAAGCAGGAGCACCTGT    c.1440
 I  K  V  K  R  K  K  K  K  K  K  T  E |   G  G  S  R  S  T  C      p.480

          .         .         .         .         .         .       g.76355
 CACAGCTCCCTGGAATCGACACCCTGCTCCGAATTTCCTGGGGACAGTCCCCAGTCCTTG       c.1500
 H  S  S  L  E  S  T  P  C  S  E  F  P  G  D  S  P  Q  S  L         p.500

          .         .         .         .         .         .       g.76415
 AACACAGACTTGCTGTCGATGACCTCAAGTGTCCTGGGCAGTAGCGTGGATCAGTTAAGT       c.1560
 N  T  D  L  L  S  M  T  S  S  V  L  G  S  S  V  D  Q  L  S         p.520

          .         .         .         .         .         .       g.76475
 GCAGAGTCTCCAGACCAGGAAAGCAGCTTCAATGGTGAAGTGAACGGTGTCCCACAGGAA       c.1620
 A  E  S  P  D  Q  E  S  S  F  N  G  E  V  N  G  V  P  Q  E         p.540

          .         .         .         .         .         .       g.76535
 AATACTGACCCCGAAACGTTTAATGTCCTGGAGGTGTCAGGATCAATGCCTGATTCTCTG       c.1680
 N  T  D  P  E  T  F  N  V  L  E  V  S  G  S  M  P  D  S  L         p.560

          .         .         .         .         .         .       g.76595
 GCTGAGGAAGATGACATTAGAACTGAAATGCCACACTGTCACCATGCACATGGGCGGGAG       c.1740
 A  E  E  D  D  I  R  T  E  M  P  H  C  H  H  A  H  G  R  E         p.580

          .         .         .         .         .         .       g.76655
 CTGCTCAATGGAGCGAGGGAAGATGTGGGAGGCAGTGATGTCACGGGACTCGGAGATGAG       c.1800
 L  L  N  G  A  R  E  D  V  G  G  S  D  V  T  G  L  G  D  E         p.600

          .         .         .         .         .         .       g.76715
 CCGTGTCCTGCAGATGATGGACCAAATAGCACACAGTTACCCTTCCAAGAACAGGACAGC       c.1860
 P  C  P  A  D  D  G  P  N  S  T  Q  L  P  F  Q  E  Q  D  S         p.620

          .         .         .         .         .         .       g.76775
 TCTCCTGGGGCGCATGATGGGGAAGACATCCAACCCATTGGCCCCCAAAGCACTTTTTGT       c.1920
 S  P  G  A  H  D  G  E  D  I  Q  P  I  G  P  Q  S  T  F  C         p.640

          .         .         .         .         .         .       g.76835
 GAAGTCCCCCTCCTGAACTCACTCACTGTGCCTTCCAGCCTCAGCTGGGCCCCAAGTGCT       c.1980
 E  V  P  L  L  N  S  L  T  V  P  S  S  L  S  W  A  P  S  A         p.660

          .         .         .         .         .         .       g.76895
 GAACAGTGGCTGCCTGGGACCAGAGCTGATGAAGGCAGCCCCGTGGAGCCCAGCCAAGAG       c.2040
 E  Q  W  L  P  G  T  R  A  D  E  G  S  P  V  E  P  S  Q  E         p.680

          .         .         .         .         .         .       g.76955
 CAGGACATCCTAACCAGCATGGAGGCCTCTGGCCACCTCAGCACAAATCTCTGGCATGCT       c.2100
 Q  D  I  L  T  S  M  E  A  S  G  H  L  S  T  N  L  W  H  A         p.700

          .         .         .         .         .         .       g.77015
 GTCACTGATGATGACACAGGTCAGAAAGAAATACCCATTTCTGAACGTGTCTTGGGGAGT       c.2160
 V  T  D  D  D  T  G  Q  K  E  I  P  I  S  E  R  V  L  G  S         p.720

          .         .         .         .         .         .       g.77075
 GTGGGAGGACAGCTGACTCCGGTCTCTGCCTTGGCAGCCAGCACTCACAAGCCCTGGCTT       c.2220
 V  G  G  Q  L  T  P  V  S  A  L  A  A  S  T  H  K  P  W  L         p.740

          .         .         .         .         .         .       g.77135
 GAGCAGCCTCCACGGGATCAGACATTGACGTCCAGCGATGAGGAGGACATCTATGCCCAC       c.2280
 E  Q  P  P  R  D  Q  T  L  T  S  S  D  E  E  D  I  Y  A  H         p.760

          .         .         .         .         .         .       g.77195
 GGGCTTCCTTCTTCATCCTCAGAGACGAGTGTGACAGAGCTCGGACCTAGTTGCTCCCAG       c.2340
 G  L  P  S  S  S  S  E  T  S  V  T  E  L  G  P  S  C  S  Q         p.780

          .         .         .         .         .     | 10   .    g.80065
 CAGGACCTGAGCCGGCTGGGTGCAGAGGACGCCGGGCTGCTCAAGCCAGATCAG | TTTGCA    c.2400
 Q  D  L  S  R  L  G  A  E  D  A  G  L  L  K  P  D  Q   | F  A      p.800

          .         .         .         .         .         .       g.80125
 GAAAGCTGGATGGGCTACTCGGGTCCCGGCTATGGCATCCTCAGCTTGGTGGTCTCCGAG       c.2460
 E  S  W  M  G  Y  S  G  P  G  Y  G  I  L  S  L  V  V  S  E         p.820

          .         .         .         .         .         .       g.80185
 AAGTATATCTGGTGCCTGGACTACAAAGGCGGCCTGTTCTGCAGCGCGTTGCCGGGCGCC       c.2520
 K  Y  I  W  C  L  D  Y  K  G  G  L  F  C  S  A  L  P  G  A         p.840

          .         .         .         .         .         | 11    g.82475
 GGGCTGCGCTGGCAGAAGTTTGAAGATGCTGTCCAGCAGGTGGCAGTCTCGCCCTCAG | GA    c.2580
 G  L  R  W  Q  K  F  E  D  A  V  Q  Q  V  A  V  S  P  S  G |       p.860

          .         .         .         .         .         .       g.82535
 GCCCTTCTCTGGAAGATTGAACAGAAATCTAACCGGGCTTTTGCTTGTGGGAAAGTCACC       c.2640
 A  L  L  W  K  I  E  Q  K  S  N  R  A  F  A  C  G  K  V  T         p.880

          .         .         .         .         .         .       g.82595
 ATCAAGGGGAAGCGGCACTGGTACGAAGCCCTGCCCCAGGCAGTGTTTGTGGCCCTGAGC       c.2700
 I  K  G  K  R  H  W  Y  E  A  L  P  Q  A  V  F  V  A  L  S         p.900

          .         .         .         .         .   | 12     .    g.85692
 GATGACACGGCCTGGATCATCAGGACCAGTGGGGACCTATACTTGCAGACAG | GTCTGAGC    c.2760
 D  D  T  A  W  I  I  R  T  S  G  D  L  Y  L  Q  T  G |   L  S      p.920

          .         .         .         .         .         .       g.85752
 GTGGATCGCCCTTGTGCCAGAGCCGTAAAGGTGGACTGTCCCTACCCGCTGTCCCAGATC       c.2820
 V  D  R  P  C  A  R  A  V  K  V  D  C  P  Y  P  L  S  Q  I         p.940

          .         .         .         .         .         .       g.85812
 ACAGCCCGGAACAATGTGGTGTGGGCGCTGACAGAGCAGAGGGCCCTCCTGTACCGGGAG       c.2880
 T  A  R  N  N  V  V  W  A  L  T  E  Q  R  A  L  L  Y  R  E         p.960

          .         .         .         .         .    | 13    .    g.87850
 GGCGTGAGCAGCTTCTGTCCGGAAGGCGAGCAGTGGAAGTGTGACATTGTCAG | CGAAAGG    c.2940
 G  V  S  S  F  C  P  E  G  E  Q  W  K  C  D  I  V  S  |  E  R      p.980

          .         .         .         .         .         .       g.87910
 CAAGCTTTAGAACCCGTCTGCATAACGCTCGGGGATCAGCAGACTCTCTGGGCCCTGGAC       c.3000
 Q  A  L  E  P  V  C  I  T  L  G  D  Q  Q  T  L  W  A  L  D         p.1000

          .         .         .         .         .         .       g.87970
 ATCCATGGGAACCTGTGGTTCAGAACTGGCATTATTTCCAAGAAGCCCCAAGGAGATGAC       c.3060
 I  H  G  N  L  W  F  R  T  G  I  I  S  K  K  P  Q  G  D  D         p.1020

          .      | 14  .         .         .         .         .    g.91711
 GACCATTGGTGGCAA | GTGAGCATCACGGACTATGTGGTGTTTGACCAGTGCAGCTTATTT    c.3120
 D  H  W  W  Q   | V  S  I  T  D  Y  V  V  F  D  Q  C  S  L  F      p.1040

          .         .         .         .         .         .       g.91771
 CAGACGATAATCCATGCCACTCACTCGGTGGCCACAGCAGCCCAAGCCCCCGTAGAAAAG       c.3180
 Q  T  I  I  H  A  T  H  S  V  A  T  A  A  Q  A  P  V  E  K         p.1060

          .         .         .         .         .         .       g.91831
 GTGGCAGATAAGCTGCGCATGGCGTTTTGGTCCCAGCAGCTTCAGTGCCAGCCAAGCCTT       c.3240
 V  A  D  K  L  R  M  A  F  W  S  Q  Q  L  Q  C  Q  P  S  L         p.1080

          .         .         .         .         .         .       g.91891
 CTCGGGGTCAATAACAGCGGTGTCTGGATCTCCTCGGGCAAGAATGAATTCCACGTCGCT       c.3300
 L  G  V  N  N  S  G  V  W  I  S  S  G  K  N  E  F  H  V  A         p.1100

          .       | 15 .         .         .         .         .    g.92641
 AAGGGAAGTCTCATAG | GCACCTACTGGAATCATGTGGTTCCCCGTGGGACAGCTTCTGCT    c.3360
 K  G  S  L  I  G |   T  Y  W  N  H  V  V  P  R  G  T  A  S  A      p.1120

          .         .         .         .       | 16 .         .    g.94445
 ACAAAATGGGCCTTTGTGTTGGCTTCTGCAGCTCCCACGAAGGAAG | GAAGCTTCCTGTGG    c.3420
 T  K  W  A  F  V  L  A  S  A  A  P  T  K  E  G |   S  F  L  W      p.1140

          .         .         .         .         .         .       g.94505
 CTGTGCCAGAGCAGCAAGGACCTGTGCAGCGTCAGCGCCCAGAGCGCACAGTCGCGGCCC       c.3480
 L  C  Q  S  S  K  D  L  C  S  V  S  A  Q  S  A  Q  S  R  P         p.1160

          .         .         .         .         .         .       g.94565
 TCCACGGTGCAGCTGCCTCCCGAAGCCGAGATGCGCGCCTATGCCGCCTGCCAGGATGCG       c.3540
 S  T  V  Q  L  P  P  E  A  E  M  R  A  Y  A  A  C  Q  D  A         p.1180

          .         .         .         .         .         .       g.94625
 CTGTGGGCGCTGGACAGCCTCGGCCAGGTGTTCATCAGGACGCTCTCCAAGAGCTGCCCC       c.3600
 L  W  A  L  D  S  L  G  Q  V  F  I  R  T  L  S  K  S  C  P         p.1200

          .         .         .         . | 17       .         .    g.107198
 ACGGGCATGCACTGGACCAGGCTGGACCTCTCCCAGCTAG | GAGCTGTAAAATTGACAAGC    c.3660
 T  G  M  H  W  T  R  L  D  L  S  Q  L  G |   A  V  K  L  T  S      p.1220

          .         .         .         .         .         .       g.107258
 TTGGCATGTGGAAATCAGCACATCTGGGCCTGTGATTCCAGGGGTGGAGTTTACTTCCGT       c.3720
 L  A  C  G  N  Q  H  I  W  A  C  D  S  R  G  G  V  Y  F  R         p.1240

          .         .         .         .         .         .       g.107318
 GTAGGGACTCAGCCTCTCAATCCCAGTCTCATGCTTCCAGCCTGGATAATGATTGAGCCA       c.3780
 V  G  T  Q  P  L  N  P  S  L  M  L  P  A  W  I  M  I  E  P         p.1260

           | 18        .         .         .         .         .    g.139067
 CCTGTCCAG | CCCGCCGGGGTCAGCTTGGTCAGCGTCCATTCCAGCCCCAACGACCAGATG    c.3840
 P  V  Q   | P  A  G  V  S  L  V  S  V  H  S  S  P  N  D  Q  M      p.1280

          .         .         .         .         .         .       g.139127
 CTGTGGGTGCTTGACAGCAGGTGGAACGTGCACGTGCGGACCGGGATCACCGAGGAGATG       c.3900
 L  W  V  L  D  S  R  W  N  V  H  V  R  T  G  I  T  E  E  M         p.1300

          .         .         .  | 19      .         .         .    g.139636
 CCTGTGGGGACCGCCTGGGAGCATGTGCCAG | GGTTGCAGGCCTGCCAGCTGGCGCTGAGC    c.3960
 P  V  G  T  A  W  E  H  V  P  G |   L  Q  A  C  Q  L  A  L  S      p.1320

          .         .         .         .         .         .       g.139696
 ACCAGGACCGTGTGGGCCCGCTGTCCAAACGGAGACCTCGCCCGGCGGTACGGCGTCACA       c.4020
 T  R  T  V  W  A  R  C  P  N  G  D  L  A  R  R  Y  G  V  T         p.1340

          .         .         .         .         .         .       g.139756
 GACAAGAACCCCGCCGGGGACTACTGGAAGAAAATTCCCGGCAGCGTGTCGTGTTTCACA       c.4080
 D  K  N  P  A  G  D  Y  W  K  K  I  P  G  S  V  S  C  F  T         p.1360

   | 20      .         .         .         .         .         .    g.140199
 G | TGACTGCGTCAGATGAGCTGTGGGCTGTGGGCCCGCCCGGCTACCTCCTCCAACGGCTG    c.4140
 V |   T  A  S  D  E  L  W  A  V  G  P  P  G  Y  L  L  Q  R  L      p.1380

          .         .         .         .         .         .       g.140259
 ACAAAGACGTTCAGCCACTCGCACGGCACCCAGAAGAGCAGCCAGGCCGCCATGCCCCAC       c.4200
 T  K  T  F  S  H  S  H  G  T  Q  K  S  S  Q  A  A  M  P  H         p.1400

          .         .         .                                     g.140295
 CCTGAGGACCTGGAGGACGAGTGGGAGGTCATCTGA                               c.4236
 P  E  D  L  E  D  E  W  E  V  I  X                                 p.1411

          .         .         .         .         .         .       g.140355
 aggagccctggccgagtcacgcggaggggcccggcgtctgtggcgggcacaggggcttca       c.*60

          .         .         .         .         .         .       g.140415
 gagtgactccctggtggacgcgctgcctcaacacttgtccagacacctctggccaggttg       c.*120

          .         .         .         .         .         .       g.140475
 gacccgcacacttactttcatctatgttggtttctgtctcgttccagaacccacagcctc       c.*180

          .         .         .         .         .         .       g.140535
 cacccgtggctggcgtgattgctgcagcagtggcgcctcctagctcaggacagtggcgac       c.*240

          .         .         .         .         .         .       g.140595
 tgcccggctgcatgcactccgattacccacgtgctgccgtcctggtctcatccacagata       c.*300

          .         .         .         .         .         .       g.140655
 gctccagcttttgttggtgggagtggtctccggaggcctcccagaaccaagggtagccgg       c.*360

          .         .         .         .         .         .       g.140715
 gcagctggtttggcccagggcctccttccacattagtagccccagggccagatggagcca       c.*420

          .         .         .         .         .         .       g.140775
 aaggtcagctctctgcagcgcgggatgtgctcggtgatggctttgtcccatcataggggg       c.*480

          .         .         .         .         .         .       g.140835
 gtgtccccccagagacaaagctgcagagcacattccatgccagacgctctggccaggaag       c.*540

          .         .         .         .         .         .       g.140895
 ctgaggccgggcttgagaggagagcgctggccatgccaggagagaacccacgcacatgca       c.*600

          .         .         .         .         .         .       g.140955
 caccacaacacacaacacacctcacctcacaccacagcacacctcaccacaccacaccgc       c.*660

          .         .         .         .         .         .       g.141015
 actgcaccatacctcaccacatctcaccacaccacagcacacctcaccacacaacacacc       c.*720

          .         .         .         .         .         .       g.141075
 acaccccacaccgcactgcaccgcaccgcaccgcaccgtacctcgccacatctcaccaca       c.*780

          .         .         .         .         .         .       g.141135
 ccacaccacaccacacctcactgcccacacacggcgcaggctgcccgcctcctggagagc       c.*840

          .         .         .         .         .         .       g.141195
 acacttcagctgaaacagtaaagcctgatgggtgcaaatggaacctggatgtgtgcacgt       c.*900

          .         .         .         .         .         .       g.141255
 gtgtcccaggtagggacggcacaggagggtgcatggggcgtgggggagctgagcaagggt       c.*960

          .         .         .         .         .         .       g.141315
 cgctcacttagaaatgtctttggaatggtgtttaactaatgctgctggcggacatcctaa       c.*1020

          .         .         .         .         .         .       g.141375
 aaccagatgcatcctcagaggacgagtctactaattattgcctttgttgttgtattacaa       c.*1080

          .         .         .         .         .         .       g.141435
 atctgcataaaatacctcatttcaaatcaaatcttacaaatttagaagagagatatgttt       c.*1140

          .         .         .         .         .         .       g.141495
 tccgaaaacagtggaagccctttgttccttcccgggtttgtcctgagcctgcactgtcct       c.*1200

          .         .         .         .         .         .       g.141555
 cgcctgcagcctcagaggggcaggcatccccgcacagacttgactggcagggcggtcacg       c.*1260

          .         .         .         .         .         .       g.141615
 ggacctgcgggctggctccgagtggcagcccatgccttctgcggggtatgggttgacact       c.*1320

          .         .         .         .         .         .       g.141675
 tgacaggttgaaaccagtgcctctatggacggctgctgtggccccttcagacaatgggca       c.*1380

          .         .         .         .         .         .       g.141735
 gtgcccaccccgcccactggcatctgcgtgtgagggctaggccgccctgccacacatccc       c.*1440

          .         .         .         .         .         .       g.141795
 gccccctcccggaggcagcttcaggacaggacaccaggctggctgctttttttagcctgc       c.*1500

          .         .         .         .         .         .       g.141855
 ccctggcccaggcccagtccttggtgtcagggagcccccaggccgcaggtggagggtgat       c.*1560

          .         .         .         .         .         .       g.141915
 aaaatatgttctctgacaggacccagccagccacataggtggaggttttccatgtccaaa       c.*1620

          .         .         .         .         .         .       g.141975
 tgaggtcaagatgccgaaatcccagatctgacttcacacttcccttttctagaacctttt       c.*1680

          .         .         .         .         .         .       g.142035
 gtaaaagttggtggcagcagaggcagccccaggccgggctgcatctctctgtgtctgttg       c.*1740

          .         .         .         .         .         .       g.142095
 tgccttgcccggcgcctcacggatggcaaagctctcctcacccatgggactgtagtgcaa       c.*1800

          .         .         .         .         .         .       g.142155
 ttaaacccgcgtctaggtgatgcttttaaagttgtagcttcgtgctttgtacagttttct       c.*1860

          .         .         .         .         .         .       g.142215
 ttctggttttaatttttagttgtgctttgagtcagtgcaataaactagactttttccaaa       c.*1920

          .         .         .         .         .         .       g.142275
 cctggccgagtgtggtgcctgagctgtgagaagtgtcctcagccgacactcacgagggca       c.*1980

          .         .         .         .         .         .       g.142335
 gtgcaagggagaacctgccagcccagccccaccacagggagagtgcgtcagcagacctgt       c.*2040

          .         .         .         .         .         .       g.142395
 cctggcctggctggtgttgaaatacacaccggtttgcccaagtggctgttatgggggaat       c.*2100

          .         .         .         .         .         .       g.142455
 ggccgctccagagctggctgtaccccatggtagcctctgaggaggacgctgtggggtgag       c.*2160

          .         .         .         .         .         .       g.142515
 gtccagggctgcctcctcatggagctgtgtgtgagcaggcgttggaggggttcgagcccc       c.*2220

          .         .         .         .         .         .       g.142575
 tggttctgtatcttcagccagcaaacgaaaccatatcgcaaaccagagctgctggaaacc       c.*2280

          .         .         .         .         .         .       g.142635
 agcacacgcaaaagatgacgcccagcacagcagcaggacacaccatgtgccaggaaatga       c.*2340

          .         .         .         .         .         .       g.142695
 cctcagcaagaaacctcaggccgtgtgaagagcagcaaagctttccagaaggcataaaag       c.*2400

          .         .         .         .         .         .       g.142755
 gaaacttgaataaaggaagatatgttccacattcctggatggaggactacacacattatg       c.*2460

          .         .         .         .         .         .       g.142815
 gaaagacctcattctttccaaaggaatttataggtgtagcttgatttcagttcaaatccc       c.*2520

          .         .         .         .         .         .       g.142875
 cactgggattgttttgttggggcaggcagggaggaataatgttagtacccacaaatgccc       c.*2580

          .         .         .         .         .         .       g.142935
 atgactgtgcccaatgtgcttctcaccagagccctgcaaggggaagtctcattagcccct       c.*2640

          .         .         .         .         .         .       g.142995
 tgagactcagagaggttaggtaacttgctcaaggtcacacagcactgggactggaagcca       c.*2700

          .         .         .         .         .         .       g.143055
 gctctgtagaactgcagacctgtgctgtttgatgcctcctcactgtcccgtcactcctgg       c.*2760

          .         .         .         .         .         .       g.143115
 gaagaagaaacgggtgagaactgctaagtgatgacaggtggagccccagcaggggccact       c.*2820

          .         .         .         .         .         .       g.143175
 ctattgaatggcatggcccagaccctcggagggccaggcaacaggctagcaaggcccaca       c.*2880

          .         .         .         .         .         .       g.143235
 gggagggagcagaatggagagggcatctcagatgcgcttaaggagcggcgggggcggggc       c.*2940

          .         .         .         .         .         .       g.143295
 atggggggtgtcacaactaatgtggccactgcttcattctctgggcaaaataatattaaa       c.*3000

          .         .         .         .         .         .       g.143355
 tggattaaagaatctaaaaccagtgggaaaactgtctgatttctggatggcaaaggcttt       c.*3060

          .         .         .         .         .         .       g.143415
 ctaaactcaaaagtgataggacaagctacagaggaaaataagtacatagatttgatttct       c.*3120

          .         .         .         .         .         .       g.143475
 ccaaaatacagaaatgctgctgggcacagtgatgtgcagttatagtcccagctacttggg       c.*3180

          .         .         .         .         .         .       g.143535
 aggccaaggcaggaggattacttgagcccaggagtttgaggctgcaatgaactatgatca       c.*3240

          .         .         .         .         .         .       g.143595
 caccactgcactccagcctcggcgacagagcaagaccttgtttctcaaaaataaataaat       c.*3300

          .         .         .         .         .         .       g.143655
 agaaggaaataaatgtaaaaatgctgcaaattaaaaacctcaaagaagggaaataattgc       c.*3360

          .         .         .         .         .         .       g.143715
 aacaaatgggaattgatgttgaatatttaccttaaaaacctatacaacaataagaggagt       c.*3420

          .         .         .         .         .         .       g.143775
 gcgcccttcagcagcatgtatacaaaaattgcaacgatacagagattagcatggcccctg       c.*3480

          .         .         .         .         .         .       g.143835
 cacaaggatgactcgcaaattcataaagctttccataaatatatttattaaaaaccaata       c.*3540

          .         .         .         .         .         .       g.143895
 ggaggagcacttcgagtcgagtgtaagggcccttcacaaaagcagaaggaacactggccc       c.*3600

          .         .         .         .         .         .       g.143955
 aaacccccagcaccccggaagcagaggtgagatgggagcagcttgggagccccccattgg       c.*3660

          .         .         .         .         .         .       g.144015
 cgccgccctactggggaagccggtccgtacgtaggccttgcatctcgccacctccacttc       c.*3720

          .         .         .         .         .         .       g.144075
 tgtcctcaagaacaagtcctaggtcaagggaaacagcacagcctgtttataattaggaaa       c.*3780

          .         .         .         .         .         .       g.144135
 cacttaaaacagcctggcatttgggaacagccatgttaacgtgagcaaattcctctcatg       c.*3840

          .         .         .         .         .         .       g.144195
 aaatagcctgcagctattaagaagcacgtgtgtgcaggaagcggaggcgcaggacctcac       c.*3900

          .         .         .         .         .         .       g.144255
 cgcgccagcgtgaagttcccgggcatggtcatgaaagcgtggttctgtaagaaatcagag       c.*3960

          .         .         .         .         .         .       g.144315
 ggagaaagggagagaagggggagggagacaacccaaacgttggagggtatttgttgtaaa       c.*4020

          .         .         .         .         .         .       g.144375
 cttcaaacttttggcaggtttgaaatttttcataactccggggaggagcaagaggggtga       c.*4080

          .         .         .         .         .         .       g.144435
 aaagaaacaagttctctacttgtgatcagcagctggtcatagtggttgcctggagtatat       c.*4140

          .         .         .         .         .         .       g.144495
 gcctttttgtatcctttgaatttccagccatgtaaatgtattatttattccaaaaataaa       c.*4200

          .         .                                               g.144519
 gcagatttacattttaaaaattca                                           c.*4224

 (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 Tectonin beta-propeller repeat containing 2 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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