trichohyalin (TCHH) - coding DNA reference sequence

(used for variant description)

(last modified June 2, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_007113.3 in the TCHH gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_052960.1, covering TCHH transcript NM_007113.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5035
                          gttacccagtacacttgcctgtggtgtcagcaagc       c.-61

 .         .         .         | 02         .         .             g.6374
 actgtcgacttcttcctctggtgaagtgg | gtttacttgaacttgaaggaaagaaaaaaaa    c.-1

          .         .         .         .         .         .       g.6434
 ATGTCTCCACTTCTGAGAAGCATCTGTGACATCACTGAAATTTTCAATCAGTATGTCTCT       c.60
 M  S  P  L  L  R  S  I  C  D  I  T  E  I  F  N  Q  Y  V  S         p.20

          .         .         .         .         .         .       g.6494
 CATGATTGTGATGGAGCAGCATTAACTAAGAAAGACCTGAAGAACCTCCTTGAAAGGGAA       c.120
 H  D  C  D  G  A  A  L  T  K  K  D  L  K  N  L  L  E  R  E         p.40

          .         | 03         .         .         .         .    g.7418
 TTTGGAGCTGTGCTTCGG | AGACCACATGACCCTAAGACGGTAGATCTGATCCTGGAACTT    c.180
 F  G  A  V  L  R   | R  P  H  D  P  K  T  V  D  L  I  L  E  L      p.60

          .         .         .         .         .         .       g.7478
 CTGGATCTTGACAGTAATGGGCGTGTCGATTTCAACGAATTCCTCCTATTTATTTTCAAA       c.240
 L  D  L  D  S  N  G  R  V  D  F  N  E  F  L  L  F  I  F  K         p.80

          .         .         .         .         .         .       g.7538
 GTGGCTCAAGCTTGTTACTATGCTCTCGGCCAGGCCACGGGACTGGATGAGGAGAAGCGA       c.300
 V  A  Q  A  C  Y  Y  A  L  G  Q  A  T  G  L  D  E  E  K  R         p.100

          .         .         .         .         .         .       g.7598
 GCCCGGTGTGACGGAAAGGAGAGCCTGTTACAAGATCGCAGGCAAGAAGAAGACCAAAGG       c.360
 A  R  C  D  G  K  E  S  L  L  Q  D  R  R  Q  E  E  D  Q  R         p.120

          .         .         .         .         .         .       g.7658
 AGATTCGAGCCCCGGGACAGACAACTGGAAGAAGAACCTGGGCAACGACGCAGGCAGAAG       c.420
 R  F  E  P  R  D  R  Q  L  E  E  E  P  G  Q  R  R  R  Q  K         p.140

          .         .         .         .         .         .       g.7718
 AGGCAGGAACAGGAGAGGGAGCTAGCTGAGGGAGAGGAGCAAAGTGAGAAACAAGAGCGA       c.480
 R  Q  E  Q  E  R  E  L  A  E  G  E  E  Q  S  E  K  Q  E  R         p.160

          .         .         .         .         .         .       g.7778
 CTTGAACAGCGCGACAGGCAGCGCCGCGACGAGGAGCTGTGGCGGCAAAGGCAAGAATGG       c.540
 L  E  Q  R  D  R  Q  R  R  D  E  E  L  W  R  Q  R  Q  E  W         p.180

          .         .         .         .         .         .       g.7838
 CAAGAACGGGAAGAGCGCCGTGCAGAGGAAGAGCAGCTGCAGAGTTGCAAAGGTCACGAA       c.600
 Q  E  R  E  E  R  R  A  E  E  E  Q  L  Q  S  C  K  G  H  E         p.200

          .         .         .         .         .         .       g.7898
 ACTGAGGAGTTTCCAGACGAAGAGCAACTGCGAAGGCGGGAGCTGCTGGAGCTGAGGAGG       c.660
 T  E  E  F  P  D  E  E  Q  L  R  R  R  E  L  L  E  L  R  R         p.220

          .         .         .         .         .         .       g.7958
 AAGGGCCGCGAGGAGAAACAGCAGCAAAGGCGAGAGCGGCAAGACAGAGTGTTCCAGGAG       c.720
 K  G  R  E  E  K  Q  Q  Q  R  R  E  R  Q  D  R  V  F  Q  E         p.240

          .         .         .         .         .         .       g.8018
 GAAGAAGAGAAAGAGTGGAGGAAGCGCGAGACAGTGCTCCGGAAGGAAGAAGAGAAGTTG       c.780
 E  E  E  K  E  W  R  K  R  E  T  V  L  R  K  E  E  E  K  L         p.260

          .         .         .         .         .         .       g.8078
 CAGGAAGAGGAGCCGCAGCGGCAAAGAGAGCTCCAGGAGGAAGAAGAGCAGCTACGGAAG       c.840
 Q  E  E  E  P  Q  R  Q  R  E  L  Q  E  E  E  E  Q  L  R  K         p.280

          .         .         .         .         .         .       g.8138
 CTGGAGCGGCAAGAGCTGAGGAGGGAGCGCCAGGAGGAAGAGCAGCAGCAGCAAAGGCTG       c.900
 L  E  R  Q  E  L  R  R  E  R  Q  E  E  E  Q  Q  Q  Q  R  L         p.300

          .         .         .         .         .         .       g.8198
 AGGCGCGAGCAGCAACTAAGGCGCAAGCAGGAGGAGGAGAGGCGCGAGCAGCAGGAGGAG       c.960
 R  R  E  Q  Q  L  R  R  K  Q  E  E  E  R  R  E  Q  Q  E  E         p.320

          .         .         .         .         .         .       g.8258
 AGGCGCGAGCAGCAGGAGAGGCGCGAGCAGCAGGAGGAGAGGCGCGAGCAGCAGCTGAGG       c.1020
 R  R  E  Q  Q  E  R  R  E  Q  Q  E  E  R  R  E  Q  Q  L  R         p.340

          .         .         .         .         .         .       g.8318
 CGCGAGCAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCGC       c.1080
 R  E  Q  E  E  R  R  E  Q  Q  L  R  R  E  Q  E  E  E  R  R         p.360

          .         .         .         .         .         .       g.8378
 GAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCGCGAGCAGCAGCTGAGGCGCGAG       c.1140
 E  Q  Q  L  R  R  E  Q  E  E  E  R  R  E  Q  Q  L  R  R  E         p.380

          .         .         .         .         .         .       g.8438
 CAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAG       c.1200
 Q  Q  L  R  R  E  Q  Q  L  R  R  E  Q  Q  L  R  R  E  Q  Q         p.400

          .         .         .         .         .         .       g.8498
 CTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGGCGCGAGCAGCAGCTGAGG       c.1260
 L  R  R  E  Q  Q  L  R  R  E  Q  Q  L  R  R  E  Q  Q  L  R         p.420

          .         .         .         .         .         .       g.8558
 CGCGAGCAGCAGCTGAGGCGCGAGCAGGAGGAGGAGAGGCACGAGCAGAAGCACGAGCAG       c.1320
 R  E  Q  Q  L  R  R  E  Q  E  E  E  R  H  E  Q  K  H  E  Q         p.440

          .         .         .         .         .         .       g.8618
 GAGAGGCGCGAGCAGCGGCTGAAGCGCGAGCAGGAGGAGAGGCGCGATTGGCTGAAGCGC       c.1380
 E  R  R  E  Q  R  L  K  R  E  Q  E  E  R  R  D  W  L  K  R         p.460

          .         .         .         .         .         .       g.8678
 GAGGAGGAGACGGAGAGGCACGAGCAGGAGAGGCGCAAGCAGCAGCTGAAGCGCGACCAG       c.1440
 E  E  E  T  E  R  H  E  Q  E  R  R  K  Q  Q  L  K  R  D  Q         p.480

          .         .         .         .         .         .       g.8738
 GAGGAGGAGAGGCGCGAACGTTGGCTGAAGCTCGAGGAGGAGGAGAGGCGCGAGCAGCAG       c.1500
 E  E  E  R  R  E  R  W  L  K  L  E  E  E  E  R  R  E  Q  Q         p.500

          .         .         .         .         .         .       g.8798
 GAGAGGCGCGAGCAGCAACTAAGGCGGGAGCAAGAGGAGAGGCGCGAGCAGCGGCTGAAG       c.1560
 E  R  R  E  Q  Q  L  R  R  E  Q  E  E  R  R  E  Q  R  L  K         p.520

          .         .         .         .         .         .       g.8858
 CGCCAGGAGGAGGAAGAGAGGCTCCAGCAGCGGTTGAGGAGCGAGCAACAACTAAGACGC       c.1620
 R  Q  E  E  E  E  R  L  Q  Q  R  L  R  S  E  Q  Q  L  R  R         p.540

          .         .         .         .         .         .       g.8918
 GAGCAGGAGGAGAGGCGCGAGCAGCTGCTGAAGCGCGAGGAGGAGAAGAGGCTCGAGCAG       c.1680
 E  Q  E  E  R  R  E  Q  L  L  K  R  E  E  E  K  R  L  E  Q         p.560

          .         .         .         .         .         .       g.8978
 GAGAGGCGAGAGCAGCGGCTGAAGCGCGAGCAGGAGGAGAGGCGCGATCAGCTGCTGAAG       c.1740
 E  R  R  E  Q  R  L  K  R  E  Q  E  E  R  R  D  Q  L  L  K         p.580

          .         .         .         .         .         .       g.9038
 CGCGAGGAGGAGAGGCGCCAGCAGCGGCTGAAGCGCGAGCAGGAAGAGAGGCTCGAGCAG       c.1800
 R  E  E  E  R  R  Q  Q  R  L  K  R  E  Q  E  E  R  L  E  Q         p.600

          .         .         .         .         .         .       g.9098
 CGACTGAAGCGCGAGGAGGTGGAGAGACTCGAGCAGGAGGAGAGGCGCGAGCAGCGGCTG       c.1860
 R  L  K  R  E  E  V  E  R  L  E  Q  E  E  R  R  E  Q  R  L         p.620

          .         .         .         .         .         .       g.9158
 AAGCGCGAGGAGCCGGAGGAAGAGAGGCGCCAGCAGCTGCTGAAGAGCGAGGAGCAGGAG       c.1920
 K  R  E  E  P  E  E  E  R  R  Q  Q  L  L  K  S  E  E  Q  E         p.640

          .         .         .         .         .         .       g.9218
 GAGAGGCGCCAGCAGCAACTAAGGCGCGAGCAGCAGGAAAGGCGCGAGCAGCGGCTGAAG       c.1980
 E  R  R  Q  Q  Q  L  R  R  E  Q  Q  E  R  R  E  Q  R  L  K         p.660

          .         .         .         .         .         .       g.9278
 CGCGAGGAGGAGGAAGAGAGGCTCGAGCAGCGGCTGAAGCGCGAGCATGAGGAAGAGAGG       c.2040
 R  E  E  E  E  E  R  L  E  Q  R  L  K  R  E  H  E  E  E  R         p.680

          .         .         .         .         .         .       g.9338
 CGCGAGCAGGAGCTAGCTGAGGAGGAGCAGGAACAGGCCCGGGAGCGGATTAAGAGCCGC       c.2100
 R  E  Q  E  L  A  E  E  E  Q  E  Q  A  R  E  R  I  K  S  R         p.700

          .         .         .         .         .         .       g.9398
 ATCCCGAAGTGGCAGTGGCAGCTAGAAAGCGAGGCCGACGCACGGCAAAGCAAAGTCTAC       c.2160
 I  P  K  W  Q  W  Q  L  E  S  E  A  D  A  R  Q  S  K  V  Y         p.720

          .         .         .         .         .         .       g.9458
 TCGAGGCCCCGCAAGCAGGAAGGGCAGAGGCGCCGCCAAGAGCAGGAGGAAAAGAGGCGG       c.2220
 S  R  P  R  K  Q  E  G  Q  R  R  R  Q  E  Q  E  E  K  R  R         p.740

          .         .         .         .         .         .       g.9518
 CGCCGGGAGAGTGAGCTGCAATGGCAGGAGGAGGAACGGGCTCACCGGCAGCAGCAGGAA       c.2280
 R  R  E  S  E  L  Q  W  Q  E  E  E  R  A  H  R  Q  Q  Q  E         p.760

          .         .         .         .         .         .       g.9578
 GAGGAGCAGCGCCGGGACTTCACATGGCAGTGGCAGGCGGAGGAAAAGAGCGAGAGGGGC       c.2340
 E  E  Q  R  R  D  F  T  W  Q  W  Q  A  E  E  K  S  E  R  G         p.780

          .         .         .         .         .         .       g.9638
 CGTCAGAGGCTGTCGGCCAGGCCCCCATTGCGGGAGCAGCGGGAGAGGCAGCTGAGGGCC       c.2400
 R  Q  R  L  S  A  R  P  P  L  R  E  Q  R  E  R  Q  L  R  A         p.800

          .         .         .         .         .         .       g.9698
 GAGGAGCGCCAGCAGCGGGAACAACGGTTTCTCCCGGAGGAGGAGGAGAAGGAGCAGCGG       c.2460
 E  E  R  Q  Q  R  E  Q  R  F  L  P  E  E  E  E  K  E  Q  R         p.820

          .         .         .         .         .         .       g.9758
 CGCCGCCAGCGACGCGAGAGGGAGAAAGAGCTGCAGTTCCTGGAGGAAGAGGAGCAGCTC       c.2520
 R  R  Q  R  R  E  R  E  K  E  L  Q  F  L  E  E  E  E  Q  L         p.840

          .         .         .         .         .         .       g.9818
 CAGCGGCGGGAGCGTGCCCAACAGCTCCAGGAGGAGGAGGACGGCCTCCAGGAGGATCAG       c.2580
 Q  R  R  E  R  A  Q  Q  L  Q  E  E  E  D  G  L  Q  E  D  Q         p.860

          .         .         .         .         .         .       g.9878
 GAGAGGAGGCGAAGCCAGGAGCAGCGCCGCGACCAAAAATGGAGGTGGCAACTAGAAGAA       c.2640
 E  R  R  R  S  Q  E  Q  R  R  D  Q  K  W  R  W  Q  L  E  E         p.880

          .         .         .         .         .         .       g.9938
 GAAAGGAAGAGACGCCGCCACACGCTGTACGCCAAGCCAGCCCTACAAGAGCAGCTGAGG       c.2700
 E  R  K  R  R  R  H  T  L  Y  A  K  P  A  L  Q  E  Q  L  R         p.900

          .         .         .         .         .         .       g.9998
 AAGGAACAGCAGCTGCTGCAGGAGGAGGAGGAGGAGCTACAGAGAGAGGAGCGCGAGAAG       c.2760
 K  E  Q  Q  L  L  Q  E  E  E  E  E  L  Q  R  E  E  R  E  K         p.920

          .         .         .         .         .         .       g.10058
 AGAAGGCGCCAAGAACAGGAGAGACAATACCGCGAGGAAGAGCAGCTGCAGCAGGAGGAA       c.2820
 R  R  R  Q  E  Q  E  R  Q  Y  R  E  E  E  Q  L  Q  Q  E  E         p.940

          .         .         .         .         .         .       g.10118
 GAGCAGCTGCTGAGAGAGGAACGGGAGAAAAGAAGACGCCAGGAGCGGGAAAGGCAATAT       c.2880
 E  Q  L  L  R  E  E  R  E  K  R  R  R  Q  E  R  E  R  Q  Y         p.960

          .         .         .         .         .         .       g.10178
 CGGAAGGATAAGAAGCTGCAGCAGAAGGAAGAGCAGCTGCTGGGAGAGGAACCGGAGAAG       c.2940
 R  K  D  K  K  L  Q  Q  K  E  E  Q  L  L  G  E  E  P  E  K         p.980

          .         .         .         .         .         .       g.10238
 AGAAGGCGCCAGGAGCGGGAGAAAAAATACCGCGAGGAAGAGGAGTTGCAGCAGGAGGAA       c.3000
 R  R  R  Q  E  R  E  K  K  Y  R  E  E  E  E  L  Q  Q  E  E         p.1000

          .         .         .         .         .         .       g.10298
 GAGCAGCTGCTGAGAGAGGAACGGGAGAAGAGAAGGCGCCAGGAGTGGGAGAGGCAGTAC       c.3060
 E  Q  L  L  R  E  E  R  E  K  R  R  R  Q  E  W  E  R  Q  Y         p.1020

          .         .         .         .         .         .       g.10358
 CGCAAAAAAGACGAGCTGCAGCAGGAAGAAGAGCAGCTGCTGAGAGAGGAACGGGAGAAA       c.3120
 R  K  K  D  E  L  Q  Q  E  E  E  Q  L  L  R  E  E  R  E  K         p.1040

          .         .         .         .         .         .       g.10418
 AGAAGACTCCAGGAGCGGGAGAGGCAATATCGGGAGGAAGAGGAGCTGCAGCAGGAGGAA       c.3180
 R  R  L  Q  E  R  E  R  Q  Y  R  E  E  E  E  L  Q  Q  E  E         p.1060

          .         .         .         .         .         .       g.10478
 GAGCAGCTGCTGGGAGAGGAACGGGAGACGAGAAGGCGCCAGGAGCTGGAGAGGCAATAT       c.3240
 E  Q  L  L  G  E  E  R  E  T  R  R  R  Q  E  L  E  R  Q  Y         p.1080

          .         .         .         .         .         .       g.10538
 CGGAAGGAAGAGGAGCTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACCGGAGAAG       c.3300
 R  K  E  E  E  L  Q  Q  E  E  E  Q  L  L  R  E  E  P  E  K         p.1100

          .         .         .         .         .         .       g.10598
 AGAAGGCGCCAGGAGCGGGAGAGGCAATGTCGGGAGGAAGAGGAGCTGCAGCAGGAGGAA       c.3360
 R  R  R  Q  E  R  E  R  Q  C  R  E  E  E  E  L  Q  Q  E  E         p.1120

          .         .         .         .         .         .       g.10658
 GAGCAGCTGCTGAGAGAGGAACGGGAGAAGAGAAGGCGCCAGGAGCTGGAGAGGCAATAT       c.3420
 E  Q  L  L  R  E  E  R  E  K  R  R  R  Q  E  L  E  R  Q  Y         p.1140

          .         .         .         .         .         .       g.10718
 CGGGAGGAAGAGGAGGTGCAGCAGGAGGAAGAGCAGCTGCTGAGAGAGGAACCGGAGAAG       c.3480
 R  E  E  E  E  V  Q  Q  E  E  E  Q  L  L  R  E  E  P  E  K         p.1160

          .         .         .         .         .         .       g.10778
 AGAAGGCGCCAGGAGCTGGAGAGGCAATACCGCGAGGAAGAGGAGCTGCAGCAGGAGGAA       c.3540
 R  R  R  Q  E  L  E  R  Q  Y  R  E  E  E  E  L  Q  Q  E  E         p.1180

          .         .         .         .         .         .       g.10838
 GAGCAGCTGCTGAGAGAGGAACAGGAGAAAAGGCGCCAGGAGCGGGAGAGGCAGTATCGG       c.3600
 E  Q  L  L  R  E  E  Q  E  K  R  R  Q  E  R  E  R  Q  Y  R         p.1200

          .         .         .         .         .         .       g.10898
 GAGGAGGAAGAGCTTCAGCGCCAGAAAAGGAAGCAGCGATACCGGGATGAGGATCAGCGC       c.3660
 E  E  E  E  L  Q  R  Q  K  R  K  Q  R  Y  R  D  E  D  Q  R         p.1220

          .         .         .         .         .         .       g.10958
 AGTGATCTGAAATGGCAGTGGGAACCAGAAAAAGAAAATGCAGTTCGTGATAACAAGGTT       c.3720
 S  D  L  K  W  Q  W  E  P  E  K  E  N  A  V  R  D  N  K  V         p.1240

          .         .         .         .         .         .       g.11018
 TACTGCAAAGGCAGAGAGAATGAACAGTTCCGGCAGTTGGAAGATTCCCAGCTGCGCGAC       c.3780
 Y  C  K  G  R  E  N  E  Q  F  R  Q  L  E  D  S  Q  L  R  D         p.1260

          .         .         .         .         .         .       g.11078
 AGACAATCCCAGCAAGATCTGCAGCACCTGCTGGGTGAACAGCAAGAGCGAGATCGTGAG       c.3840
 R  Q  S  Q  Q  D  L  Q  H  L  L  G  E  Q  Q  E  R  D  R  E         p.1280

          .         .         .         .         .         .       g.11138
 CAAGAGAGGAGGCGCTGGCAGCAGCGCGACAGGCATTTCCCAGAGGAAGAACAGCTGGAG       c.3900
 Q  E  R  R  R  W  Q  Q  R  D  R  H  F  P  E  E  E  Q  L  E         p.1300

          .         .         .         .         .         .       g.11198
 CGAGAAGAGCAAAAGGAAGCCAAAAGGCGCGACAGGAAGTCCCAAGAGGAAAAGCAGTTG       c.3960
 R  E  E  Q  K  E  A  K  R  R  D  R  K  S  Q  E  E  K  Q  L         p.1320

          .         .         .         .         .         .       g.11258
 CTGAGAGAGGAAAGAGAAGAGAAGAGACGCCGTCAAGAGACAGACAGAAAATTCCGCGAG       c.4020
 L  R  E  E  R  E  E  K  R  R  R  Q  E  T  D  R  K  F  R  E         p.1340

          .         .         .         .         .         .       g.11318
 GAGGAACAGCTGCTCCAGGAAAGGGAGGAACAGCCGCTGCGCCGCCAAGAGCGTGACAGA       c.4080
 E  E  Q  L  L  Q  E  R  E  E  Q  P  L  R  R  Q  E  R  D  R         p.1360

          .         .         .         .         .         .       g.11378
 AAATTCCGCGAAGAGGAACTGCGCCATCAGGAACAAGGGAGAAAATTCCTCGAGGAGGAA       c.4140
 K  F  R  E  E  E  L  R  H  Q  E  Q  G  R  K  F  L  E  E  E         p.1380

          .         .         .         .         .         .       g.11438
 CAGCGGCTGCGCCGCCAGGAACGGGAGAGAAAATTCCTTAAGGAGGAACAGCAGCTGCGC       c.4200
 Q  R  L  R  R  Q  E  R  E  R  K  F  L  K  E  E  Q  Q  L  R         p.1400

          .         .         .         .         .         .       g.11498
 TGCCAGGAGCGCGAGCAACAGCTGCGTCAGGACCGCGACAGAAAATTCCGCGAGGAGGAA       c.4260
 C  Q  E  R  E  Q  Q  L  R  Q  D  R  D  R  K  F  R  E  E  E         p.1420

          .         .         .         .         .         .       g.11558
 CAGCAGCTGAGCCGCCAAGAGCGTGACAGAAAATTCCGTGAAGAGGAACAGCAGGTGCGC       c.4320
 Q  Q  L  S  R  Q  E  R  D  R  K  F  R  E  E  E  Q  Q  V  R         p.1440

          .         .         .         .         .         .       g.11618
 CGCCAGGAACGAGAGAGAAAATTCCTGGAGGAGGAACAGCAGCTGCGCCAGGAGCGTCAC       c.4380
 R  Q  E  R  E  R  K  F  L  E  E  E  Q  Q  L  R  Q  E  R  H         p.1460

          .         .         .         .         .         .       g.11678
 AGAAAATTCCGCGAAGAGGAACAGCTGCTCCAGGAAAGGGAAGAACAGCAGCTGCACCGC       c.4440
 R  K  F  R  E  E  E  Q  L  L  Q  E  R  E  E  Q  Q  L  H  R         p.1480

          .         .         .         .         .         .       g.11738
 CAAGAGCGTGACAGAAAATTCCTGGAGGAGGAACAACAGCTGCGCCGCCAAGAGCGTGAC       c.4500
 Q  E  R  D  R  K  F  L  E  E  E  Q  Q  L  R  R  Q  E  R  D         p.1500

          .         .         .         .         .         .       g.11798
 AGAAAATTCCGCGAACAGGAACTGCGCAGTCAGGAACCAGAGAGAAAATTCCTCGAGGAG       c.4560
 R  K  F  R  E  Q  E  L  R  S  Q  E  P  E  R  K  F  L  E  E         p.1520

          .         .         .         .         .         .       g.11858
 GAACAGCAGCTGCACCGCCAGCAACGGCAGAGAAAATTCCTCCAGGAGGAACAGCAGCTG       c.4620
 E  Q  Q  L  H  R  Q  Q  R  Q  R  K  F  L  Q  E  E  Q  Q  L         p.1540

          .         .         .         .         .         .       g.11918
 CGCCGCCAGGAGCGCGGGCAACAGCGGCGTCAGGACCGTGACAGAAAATTCCGCGAGGAG       c.4680
 R  R  Q  E  R  G  Q  Q  R  R  Q  D  R  D  R  K  F  R  E  E         p.1560

          .         .         .         .         .         .       g.11978
 GAACAGCTGCGCCAGGAGAGGGAGGAACAGCAGCTGAGCCGCCAAGAGCGTGACAGAAAA       c.4740
 E  Q  L  R  Q  E  R  E  E  Q  Q  L  S  R  Q  E  R  D  R  K         p.1580

          .         .         .         .         .         .       g.12038
 TTCCGTTTAGAGGAACAGAAAGTGCGCCGCCAGGAACAAGAGAGAAAATTCATGGAGGAC       c.4800
 F  R  L  E  E  Q  K  V  R  R  Q  E  Q  E  R  K  F  M  E  D         p.1600

          .         .         .         .         .         .       g.12098
 GAACAGCAGCTGCGCCGCCAGGAGGGCCAACAACAGCTGCGCCAGGAGCGCGACAGAAAA       c.4860
 E  Q  Q  L  R  R  Q  E  G  Q  Q  Q  L  R  Q  E  R  D  R  K         p.1620

          .         .         .         .         .         .       g.12158
 TTCCGCGAAGACGAACAGCTGCTCCAGGAAAGGGAAGAACAGCAGCTGCACCGCCAAGAG       c.4920
 F  R  E  D  E  Q  L  L  Q  E  R  E  E  Q  Q  L  H  R  Q  E         p.1640

          .         .         .         .         .         .       g.12218
 CGTGACAGAAAATTCCTCGAGGAGGAACCGCAGCTGCGCCGCCAGGAGCGCGAACAACAG       c.4980
 R  D  R  K  F  L  E  E  E  P  Q  L  R  R  Q  E  R  E  Q  Q         p.1660

          .         .         .         .         .         .       g.12278
 CTGCGTCACGACCGCGACAGAAAATTCCGTGAAGAGGAACAGCTGCTCCAGGAAGGGGAG       c.5040
 L  R  H  D  R  D  R  K  F  R  E  E  E  Q  L  L  Q  E  G  E         p.1680

          .         .         .         .         .         .       g.12338
 GAACAGCAGCTGCGCCGCCAAGAGCGTGACAGAAAATTCCGCGAAGAGGAACAGCAGCTC       c.5100
 E  Q  Q  L  R  R  Q  E  R  D  R  K  F  R  E  E  E  Q  Q  L         p.1700

          .         .         .         .         .         .       g.12398
 CGCCGTCAGGAACGAGAGAGAAAATTCCTCCAGGAGGAACAGCAGCTGCGCCGCCAGGAA       c.5160
 R  R  Q  E  R  E  R  K  F  L  Q  E  E  Q  Q  L  R  R  Q  E         p.1720

          .         .         .         .         .         .       g.12458
 CTGGAGAGAAAATTCCGTGAGGAGGAACAGCTGCGCCAAGAAACGGAGCAAGAGCAGCTG       c.5220
 L  E  R  K  F  R  E  E  E  Q  L  R  Q  E  T  E  Q  E  Q  L         p.1740

          .         .         .         .         .         .       g.12518
 CGCCGCCAAGAACGCTACAGAAAAATCCTAGAGGAAGAGCAGCTCCGTCCGGAAAGGGAA       c.5280
 R  R  Q  E  R  Y  R  K  I  L  E  E  E  Q  L  R  P  E  R  E         p.1760

          .         .         .         .         .         .       g.12578
 GAACAGCAGCTGCGCCGCCAGGAGCGCGACAGAAAATTCCGCGAGGAGGAACAGCTCCGC       c.5340
 E  Q  Q  L  R  R  Q  E  R  D  R  K  F  R  E  E  E  Q  L  R         p.1780

          .         .         .         .         .         .       g.12638
 CAGGAGAGGGAGGAACAGCAGCTGCGCAGCCAAGAGTCTGACAGAAAATTCCGCGAGGAG       c.5400
 Q  E  R  E  E  Q  Q  L  R  S  Q  E  S  D  R  K  F  R  E  E         p.1800

          .         .         .         .         .         .       g.12698
 GAACAGCTACGCCAGGAGAGGGAAGAACAGCAGCTGCGCCCCCAACAGCGTGACGGAAAG       c.5460
 E  Q  L  R  Q  E  R  E  E  Q  Q  L  R  P  Q  Q  R  D  G  K         p.1820

          .         .         .         .         .         .       g.12758
 TATCGCTGGGAAGAAGAGCAGCTCCAACTTGAGGAACAAGAGCAGAGGCTGCGGCAGGAG       c.5520
 Y  R  W  E  E  E  Q  L  Q  L  E  E  Q  E  Q  R  L  R  Q  E         p.1840

          .         .         .         .         .         .       g.12818
 CGAGACCGGCAGTACCGGGCGGAGGAGCAGTTTGCCACGCAGGAGAAGAGTCGTCGTGAG       c.5580
 R  D  R  Q  Y  R  A  E  E  Q  F  A  T  Q  E  K  S  R  R  E         p.1860

          .         .         .         .         .         .       g.12878
 GAACAAGAACTATGGCAAGAAGAGGAGCAGAAACGTCGCCAGGAACGGGAAAGGAAATTA       c.5640
 E  Q  E  L  W  Q  E  E  E  Q  K  R  R  Q  E  R  E  R  K  L         p.1880

          .         .         .         .         .         .       g.12938
 CGGGAAGAACACATCCGCCGCCAGCAGAAGGAGGAACAGAGGCACCGCCAAGTCGGGGAG       c.5700
 R  E  E  H  I  R  R  Q  Q  K  E  E  Q  R  H  R  Q  V  G  E         p.1900

          .         .         .         .         .         .       g.12998
 ATAAAATCCCAAGAAGGGAAGGGCCATGGGCGGCTTCTGGAGCCCGGCACTCATCAGTTT       c.5760
 I  K  S  Q  E  G  K  G  H  G  R  L  L  E  P  G  T  H  Q  F         p.1920

          .         .         .         .         .         .       g.13058
 GCCAGTGTCCCAGTGCGCTCCAGCCCTCTCTATGAGTACATCCAAGAGCAGAGATCTCAA       c.5820
 A  S  V  P  V  R  S  S  P  L  Y  E  Y  I  Q  E  Q  R  S  Q         p.1940

          .                                                         g.13070
 TACCGCCCTTAA                                                       c.5832
 Y  R  P  X                                                         p.1943

          .         .         .         .         .         .       g.13130
 gtgatgttgccaatatcttgacacctgccaaagcttcgagcacgggaaaatgagaaacac       c.*60

          .         .         .         .         .         .       g.13190
 tgggtaccaagtgataactcagatgtttctggttgtgggaaaactctctgatattagaat       c.*120

          .         .         .         .         .         .       g.13250
 gtcttttcttccaaaatcttaaactacgctcattttacgcactttgtacttctgcttttt       c.*180

          .         .         .         .         .         .       g.13310
 attcttcctcaagtagttctttactgcaagatgtctttcttttgctctttgatgcagatg       c.*240

          .         .         .         .         .         .       g.13370
 tggtgtgcatttaaaaaaaatataaatcatttaatttgtttaagaaattttgtttgagga       c.*300

          .         .         .         .         .         .       g.13430
 acatgttcatttattgctttcagaagtaacaagagtaataggatgatttgagattctaaa       c.*360

          .         .         .         .         .         .       g.13490
 caatgggtcggtttgtttaatgactgacccatcttgtggaaagtgcagatacttttaatg       c.*420

          .         .         .         .         .         .       g.13550
 ttcaagttgctatttcttcttgaacctaaattgatcattgcctccaaacagcatttcatc       c.*480

          .         .         .         .         .         .       g.13610
 ttttgtggcatagttagcacaaattccaggtaactaaatttttataacccttgaatagtg       c.*540

          .         .         .         .         .         .       g.13670
 cagggggagtgacctctgcataaaaacttcctgtaaaatcagcccattactggaagaaat       c.*600

          .         .         .         .         .         .       g.13730
 atctgttaagaataggtttagctttgaagatttagaatttaaattagattttttttaaac       c.*660

          .         .         .         .         .         .       g.13790
 tcaactccacttaaacacataatctcatgaagaaataatgaggtgtttctcaacttcaga       c.*720

          .         .         .         .         .         .       g.13850
 gttcaaattttaaaactgtgtctgttgtagtctatagtgttcattctacttccccaagtt       c.*780

          .         .         .         .         .         .       g.13910
 ttgatgagtttcagaatattatgaacctttgttaattttagcttgttagaaggaagctgc       c.*840

          .         .         .         .         .         .       g.13970
 tcagaatcccataaacatctgtcttactctagggccaataagagatcacatagagcatgt       c.*900

          .         .         .         .         .         .       g.14030
 tgggggtgtaaaagggaaaaatgtgtgaacataggggcaaatttctagaggccctttgac       c.*960

          .         .         .         .         .         .       g.14090
 aagacccatttgcccacaatcatttgaggcctattgataataccttagatatattcttgt       c.*1020

          .         .         .         .                           g.14138
 tgaaataattggactgtgaaaaattaataataaatgtttggcaagtaa                   c.*1068

 (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 Trichohyalin 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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