patched 1 (PTCH1) - coding DNA reference sequence

(used for variant description)

(last modified December 2, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_000264.3 in the PTCH1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007664.1, covering PTCH1 transcript NM_000264.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.13424
                                                     gcgcccgc       c.-181

 .         .         .         .         .         .                g.13484
 cgtgtgagcagcagcagcggctggtctgtcaaccggagcccgagcccgagcagcctgcgg       c.-121

 .         .         .         .         .         .                g.13544
 ccagcagcgtcctcgcaagccgagcgcccaggcgcgccaggagcccgcagcagcggcagc       c.-61

 .         .         .         .         .         .                g.13604
 agcgcgccgggccgcccgggaagcctccgtccccgcggcggcggcggcggcggcggcaac       c.-1

          .         .         .         .         .         .       g.13664
 ATGGCCTCGGCTGGTAACGCCGCCGAGCCCCAGGACCGCGGCGGCGGCGGCAGCGGCTGT       c.60
 M  A  S  A  G  N  A  A  E  P  Q  D  R  G  G  G  G  S  G  C         p.20

          .         .         .         .         .         .       g.13724
 ATCGGTGCCCCGGGACGGCCGGCTGGAGGCGGGAGGCGCAGACGGACGGGGGGGCTGCGC       c.120
 I  G  A  P  G  R  P  A  G  G  G  R  R  R  R  T  G  G  L  R         p.40

          .         .         .         .         .         .       g.13784
 CGTGCTGCCGCGCCGGACCGGGACTATCTGCACCGGCCCAGCTACTGCGACGCCGCCTTC       c.180
 R  A  A  A  P  D  R  D  Y  L  H  R  P  S  Y  C  D  A  A  F         p.60

          .         .  | 02      .         .         .         .    g.15405
 GCTCTGGAGCAGATTTCCAAG | GGGAAGGCTACTGGCCGGAAAGCGCCGCTGTGGCTGAGA    c.240
 A  L  E  Q  I  S  K   | G  K  A  T  G  R  K  A  P  L  W  L  R      p.80

          .         .         .         .         .         .       g.15465
 GCGAAGTTTCAGAGACTCTTATTTAAACTGGGTTGTTACATTCAAAAAAACTGCGGCAAG       c.300
 A  K  F  Q  R  L  L  F  K  L  G  C  Y  I  Q  K  N  C  G  K         p.100

          .         .         .         .         .         .       g.15525
 TTCTTGGTTGTGGGCCTCCTCATATTTGGGGCCTTCGCGGTGGGATTAAAAGCAGCGAAC       c.360
 F  L  V  V  G  L  L  I  F  G  A  F  A  V  G  L  K  A  A  N         p.120

          .         .         .     | 03   .         .         .    g.36117
 CTCGAGACCAACGTGGAGGAGCTGTGGGTGGAAG | TTGGAGGACGAGTAAGTCGTGAATTA    c.420
 L  E  T  N  V  E  E  L  W  V  E  V |   G  G  R  V  S  R  E  L      p.140

          .         .         .         .         .         .       g.36177
 AATTATACTCGCCAGAAGATTGGAGAAGAGGCTATGTTTAATCCTCAACTCATGATACAG       c.480
 N  Y  T  R  Q  K  I  G  E  E  A  M  F  N  P  Q  L  M  I  Q         p.160

          .         .         .         .         .         .       g.36237
 ACCCCTAAAGAAGAAGGTGCTAATGTCCTGACCACAGAAGCGCTCCTACAACACCTGGAC       c.540
 T  P  K  E  E  G  A  N  V  L  T  T  E  A  L  L  Q  H  L  D         p.180

          .         .         .         .     | 04   .         .    g.39778
 TCGGCACTCCAGGCCAGCCGTGTCCATGTATACATGTACAACAG | GCAGTGGAAATTGGAA    c.600
 S  A  L  Q  A  S  R  V  H  V  Y  M  Y  N  R  |  Q  W  K  L  E      p.200

          .         .         .         .         .     | 05   .    g.39931
 CATTTGTGTTACAAATCAGGAGAGCTTATCACAGAAACAGGTTACATGGATCAG | ATAATA    c.660
 H  L  C  Y  K  S  G  E  L  I  T  E  T  G  Y  M  D  Q   | I  I      p.220

          .         .         .         .         .         .       g.39991
 GAATATCTTTACCCTTGTTTGATTATTACACCTTTGGACTGCTTCTGGGAAGGGGCGAAA       c.720
 E  Y  L  Y  P  C  L  I  I  T  P  L  D  C  F  W  E  G  A  K         p.240

          .         .       | 06 .         .         .         .    g.41411
 TTACAGTCTGGGACAGCATACCTCCT | AGGTAAACCTCCTTTGCGGTGGACAAACTTCGAC    c.780
 L  Q  S  G  T  A  Y  L  L  |  G  K  P  P  L  R  W  T  N  F  D      p.260

          .         .         .         .         .         .       g.41471
 CCTTTGGAATTCCTGGAAGAGTTAAAGAAAATAAACTATCAAGTGGACAGCTGGGAGGAA       c.840
 P  L  E  F  L  E  E  L  K  K  I  N  Y  Q  V  D  S  W  E  E         p.280

          .         .         .         .         .         .       g.41531
 ATGCTGAATAAGGCTGAGGTTGGTCATGGTTACATGGACCGCCCCTGCCTCAATCCGGCC       c.900
 M  L  N  K  A  E  V  G  H  G  Y  M  D  R  P  C  L  N  P  A         p.300

          .         .         .         .      | 07  .         .    g.41890
 GATCCAGACTGCCCCGCCACAGCCCCCAACAAAAATTCAACCAAA | CCTCTTGATATGGCC    c.960
 D  P  D  C  P  A  T  A  P  N  K  N  S  T  K   | P  L  D  M  A      p.320

          .         .         .         .         .         .       g.41950
 CTTGTTTTGAATGGTGGATGTCATGGCTTATCCAGAAAGTATATGCACTGGCAGGAGGAG       c.1020
 L  V  L  N  G  G  C  H  G  L  S  R  K  Y  M  H  W  Q  E  E         p.340

          .         .         .         .        | 08.         .    g.42831
 TTGATTGTGGGTGGCACAGTCAAGAACAGCACTGGAAAACTCGTCAG | CGCCCATGCCCTG    c.1080
 L  I  V  G  G  T  V  K  N  S  T  G  K  L  V  S  |  A  H  A  L      p.360

          .         .         .         .         .         .       g.42891
 CAGACCATGTTCCAGTTAATGACTCCCAAGCAAATGTACGAGCACTTCAAGGGGTACGAG       c.1140
 Q  T  M  F  Q  L  M  T  P  K  Q  M  Y  E  H  F  K  G  Y  E         p.380

          .         .         .         .         .         .       g.42951
 TATGTCTCACACATCAACTGGAACGAGGACAAAGCGGCAGCCATCCTGGAGGCCTGGCAG       c.1200
 Y  V  S  H  I  N  W  N  E  D  K  A  A  A  I  L  E  A  W  Q         p.400

          .      | 09  .         .         .         .         .    g.43824
 AGGACATATGTGGAG | GTGGTTCATCAGAGTGTCGCACAGAACTCCACTCAAAAGGTGCTT    c.1260
 R  T  Y  V  E   | V  V  H  Q  S  V  A  Q  N  S  T  Q  K  V  L      p.420

          .         .         .         .         .         .       g.43884
 TCCTTCACCACCACGACCCTGGACGACATCCTGAAATCCTTCTCTGACGTCAGTGTCATC       c.1320
 S  F  T  T  T  T  L  D  D  I  L  K  S  F  S  D  V  S  V  I         p.440

          .         .        | 10.         .         .         .    g.44296
 CGCGTGGCCAGCGGCTACTTACTCATG | CTCGCCTATGCCTGTCTAACCATGCTGCGCTGG    c.1380
 R  V  A  S  G  Y  L  L  M   | L  A  Y  A  C  L  T  M  L  R  W      p.460

          .         .         .         .         .         .       g.44356
 GACTGCTCCAAGTCCCAGGGTGCCGTGGGGCTGGCTGGCGTCCTGCTGGTTGCACTGTCA       c.1440
 D  C  S  K  S  Q  G  A  V  G  L  A  G  V  L  L  V  A  L  S         p.480

          .         .         .         .         .         .       g.44416
 GTGGCTGCAGGACTGGGCCTGTGCTCATTGATCGGAATTTCCTTTAACGCTGCAACAACT       c.1500
 V  A  A  G  L  G  L  C  S  L  I  G  I  S  F  N  A  A  T  T         p.500

     | 11    .         .         .         .         .         .    g.45165
 CAG | GTTTTGCCATTTCTCGCTCTTGGTGTTGGTGTGGATGATGTTTTTCTTCTGGCCCAC    c.1560
 Q   | V  L  P  F  L  A  L  G  V  G  V  D  D  V  F  L  L  A  H      p.520

          .         .         .         .   | 12     .         .    g.45824
 GCCTTCAGTGAAACAGGACAGAATAAAAGAATCCCTTTTGAG | GACAGGACCGGGGAGTGC    c.1620
 A  F  S  E  T  G  Q  N  K  R  I  P  F  E   | D  R  T  G  E  C      p.540

          .         .         .         .         .         .       g.45884
 CTGAAGCGCACAGGAGCCAGCGTGGCCCTCACGTCCATCAGCAATGTCACAGCCTTCTTC       c.1680
 L  K  R  T  G  A  S  V  A  L  T  S  I  S  N  V  T  A  F  F         p.560

          .         .         .         .         | 13         .    g.52046
 ATGGCCGCGTTAATCCCAATTCCCGCTCTGCGGGCGTTCTCCCTCCAG | GCAGCGGTAGTA    c.1740
 M  A  A  L  I  P  I  P  A  L  R  A  F  S  L  Q   | A  A  V  V      p.580

          .         .         .         .         .         .       g.52106
 GTGGTGTTCAATTTTGCCATGGTTCTGCTCATTTTTCCTGCAATTCTCAGCATGGATTTA       c.1800
 V  V  F  N  F  A  M  V  L  L  I  F  P  A  I  L  S  M  D  L         p.600

          .         .         .         .        | 14.         .    g.52825
 TATCGACGCGAGGACAGGAGACTGGATATTTTCTGCTGTTTTACAAG | CCCCTGCGTCAGC    c.1860
 Y  R  R  E  D  R  R  L  D  I  F  C  C  F  T  S  |  P  C  V  S      p.620

          .         .         .         .         .         .       g.52885
 AGAGTGATTCAGGTTGAACCTCAGGCCTACACCGACACACACGACAATACCCGCTACAGC       c.1920
 R  V  I  Q  V  E  P  Q  A  Y  T  D  T  H  D  N  T  R  Y  S         p.640

          .         .         .         .         .         .       g.52945
 CCCCCACCTCCCTACAGCAGCCACAGCTTTGCCCATGAAACGCAGATTACCATGCAGTCC       c.1980
 P  P  P  P  Y  S  S  H  S  F  A  H  E  T  Q  I  T  M  Q  S         p.660

          .         .         .         .         .         .       g.53005
 ACTGTCCAGCTCCGCACGGAGTACGACCCCCACACGCACGTGTACTACACCACCGCTGAG       c.2040
 T  V  Q  L  R  T  E  Y  D  P  H  T  H  V  Y  Y  T  T  A  E         p.680

          .         .         .         .         .         .       g.53065
 CCGCGCTCCGAGATCTCTGTGCAGCCCGTCACCGTGACACAGGACACCCTCAGCTGCCAG       c.2100
 P  R  S  E  I  S  V  Q  P  V  T  V  T  Q  D  T  L  S  C  Q         p.700

          .         .         .         .         .         .       g.53125
 AGCCCAGAGAGCACCAGCTCCACAAGGGACCTGCTCTCCCAGTTCTCCGACTCCAGCCTC       c.2160
 S  P  E  S  T  S  S  T  R  D  L  L  S  Q  F  S  D  S  S  L         p.720

          .         .         .         .         .         .       g.53185
 CACTGCCTCGAGCCCCCCTGTACGAAGTGGACACTCTCATCTTTTGCTGAGAAGCACTAT       c.2220
 H  C  L  E  P  P  C  T  K  W  T  L  S  S  F  A  E  K  H  Y         p.740

          .         .         . | 15       .         .         .    g.54570
 GCTCCTTTCCTCTTGAAACCAAAAGCCAAG | GTAGTGGTGATCTTCCTTTTTCTGGGCTTG    c.2280
 A  P  F  L  L  K  P  K  A  K   | V  V  V  I  F  L  F  L  G  L      p.760

          .         .         .         .         .         .       g.54630
 CTGGGGGTCAGCCTTTATGGCACCACCCGAGTGAGAGACGGGCTGGACCTTACGGACATT       c.2340
 L  G  V  S  L  Y  G  T  T  R  V  R  D  G  L  D  L  T  D  I         p.780

          .         .         .         .         .         .       g.54690
 GTACCTCGGGAAACCAGAGAATATGACTTTATTGCTGCACAATTCAAATACTTTTCTTTC       c.2400
 V  P  R  E  T  R  E  Y  D  F  I  A  A  Q  F  K  Y  F  S  F         p.800

          .         .         .         .         .         .       g.54750
 TACAACATGTATATAGTCACCCAGAAAGCAGACTACCCGAATATCCAGCACTTACTTTAC       c.2460
 Y  N  M  Y  I  V  T  Q  K  A  D  Y  P  N  I  Q  H  L  L  Y         p.820

          .         .         .         .         .         .       g.54810
 GACCTACACAGGAGTTTCAGTAACGTGAAGTATGTCATGTTGGAAGAAAACAAACAGCTT       c.2520
 D  L  H  R  S  F  S  N  V  K  Y  V  M  L  E  E  N  K  Q  L         p.840

          .         .         .         . | 16       .         .    g.59987
 CCCAAAATGTGGCTGCACTACTTCAGAGACTGGCTTCAGG | GACTTCAGGATGCATTTGAC    c.2580
 P  K  M  W  L  H  Y  F  R  D  W  L  Q  G |   L  Q  D  A  F  D      p.860

          .         .         .         .         .         .       g.60047
 AGTGACTGGGAAACCGGGAAAATCATGCCAAACAATTACAAGAATGGATCAGACGATGGA       c.2640
 S  D  W  E  T  G  K  I  M  P  N  N  Y  K  N  G  S  D  D  G         p.880

          .         .         .         .         .         .       g.60107
 GTCCTTGCCTACAAACTCCTGGTGCAAACCGGCAGCCGCGATAAGCCCATCGACATCAGC       c.2700
 V  L  A  Y  K  L  L  V  Q  T  G  S  R  D  K  P  I  D  I  S         p.900

     | 17    .         .         .         .         .         .    g.62239
 CAG | TTGACTAAACAGCGTCTGGTGGATGCAGATGGCATCATTAATCCCAGCGCTTTCTAC    c.2760
 Q   | L  T  K  Q  R  L  V  D  A  D  G  I  I  N  P  S  A  F  Y      p.920

          .         .         .         .         .         .       g.62299
 ATCTACCTGACGGCTTGGGTCAGCAACGACCCCGTCGCGTATGCTGCCTCCCAGGCCAAC       c.2820
 I  Y  L  T  A  W  V  S  N  D  P  V  A  Y  A  A  S  Q  A  N         p.940

          .         .         .         .         .         .       g.62359
 ATCCGGCCACACCGACCAGAATGGGTCCACGACAAAGCCGACTACATGCCTGAAACAAGG       c.2880
 I  R  P  H  R  P  E  W  V  H  D  K  A  D  Y  M  P  E  T  R         p.960

         | 18.         .         .         .         .         .    g.63725
 CTGAGAA | TCCCGGCAGCAGAGCCCATCGAGTATGCCCAGTTCCCTTTCTACCTCAACGGC    c.2940
 L  R  I |   P  A  A  E  P  I  E  Y  A  Q  F  P  F  Y  L  N  G      p.980

          .         .         .         .         .         .       g.63785
 TTGCGGGACACCTCAGACTTTGTGGAGGCAATTGAAAAAGTAAGGACCATCTGCAGCAAC       c.3000
 L  R  D  T  S  D  F  V  E  A  I  E  K  V  R  T  I  C  S  N         p.1000

          .         .         .         .         .         .       g.63845
 TATACGAGCCTGGGGCTGTCCAGTTACCCCAACGGCTACCCCTTCCTCTTCTGGGAGCAG       c.3060
 Y  T  S  L  G  L  S  S  Y  P  N  G  Y  P  F  L  F  W  E  Q         p.1020

          .         .         .         .         .         .       g.63905
 TACATCGGCCTCCGCCACTGGCTGCTGCTGTTCATCAGCGTGGTGTTGGCCTGCACATTC       c.3120
 Y  I  G  L  R  H  W  L  L  L  F  I  S  V  V  L  A  C  T  F         p.1040

          .         .         .         .         | 19         .    g.65564
 CTCGTGTGCGCTGTCTTCCTTCTGAACCCCTGGACGGCCGGGATCATT | GTGATGGTCCTG    c.3180
 L  V  C  A  V  F  L  L  N  P  W  T  A  G  I  I   | V  M  V  L      p.1060

          .         .         .         .         .         .       g.65624
 GCGCTGATGACGGTCGAGCTGTTCGGCATGATGGGCCTCATCGGAATCAAGCTCAGTGCC       c.3240
 A  L  M  T  V  E  L  F  G  M  M  G  L  I  G  I  K  L  S  A         p.1080

          .         .         .         .         .         .       g.65684
 GTGCCCGTGGTCATCCTGATCGCTTCTGTTGGCATAGGAGTGGAGTTCACCGTTCACGTT       c.3300
 V  P  V  V  I  L  I  A  S  V  G  I  G  V  E  F  T  V  H  V         p.1100

        | 20 .         .         .         .         .         .    g.68399
 GCTTTG | GCCTTTCTGACGGCCATCGGCGACAAGAACCGCAGGGCTGTGCTTGCCCTGGAG    c.3360
 A  L   | A  F  L  T  A  I  G  D  K  N  R  R  A  V  L  A  L  E      p.1120

          .         .         .         .         .         .       g.68459
 CACATGTTTGCACCCGTCCTGGATGGCGCCGTGTCCACTCTGCTGGGAGTGCTGATGCTG       c.3420
 H  M  F  A  P  V  L  D  G  A  V  S  T  L  L  G  V  L  M  L         p.1140

          .         .          | 21        .         .         .    g.72056
 GCGGGATCTGAGTTCGACTTCATTGTCAG | GTATTTCTTTGCTGTGCTGGCGATCCTCACC    c.3480
 A  G  S  E  F  D  F  I  V  R  |  Y  F  F  A  V  L  A  I  L  T      p.1160

          .         .         .         .         .         .       g.72116
 ATCCTCGGCGTTCTCAATGGGCTGGTTTTGCTTCCCGTGCTTTTGTCTTTCTTTGGACCA       c.3540
 I  L  G  V  L  N  G  L  V  L  L  P  V  L  L  S  F  F  G  P         p.1180

           | 22        .         .         .         .         .    g.72693
 TATCCTGAG | GTGTCTCCAGCCAACGGCTTGAACCGCCTGCCCACACCCTCCCCTGAGCCA    c.3600
 Y  P  E   | V  S  P  A  N  G  L  N  R  L  P  T  P  S  P  E  P      p.1200

          .         .         .         .         .         .       g.72753
 CCCCCCAGCGTGGTCCGCTTCGCCATGCCGCCCGGCCACACGCACAGCGGGTCTGATTCC       c.3660
 P  P  S  V  V  R  F  A  M  P  P  G  H  T  H  S  G  S  D  S         p.1220

          .         .         .         .         .         .       g.72813
 TCCGACTCGGAGTATAGTTCCCAGACGACAGTGTCAGGCCTCAGCGAGGAGCTTCGGCAC       c.3720
 S  D  S  E  Y  S  S  Q  T  T  V  S  G  L  S  E  E  L  R  H         p.1240

          .         .         .         .         .         .       g.72873
 TACGAGGCCCAGCAGGGCGCGGGAGGCCCTGCCCACCAAGTGATCGTGGAAGCCACAGAA       c.3780
 Y  E  A  Q  Q  G  A  G  G  P  A  H  Q  V  I  V  E  A  T  E         p.1260

          .         .     | 23   .         .         .         .    g.74550
 AACCCCGTCTTCGCCCACTCCACT | GTGGTCCATCCCGAATCCAGGCATCACCCACCCTCG    c.3840
 N  P  V  F  A  H  S  T   | V  V  H  P  E  S  R  H  H  P  P  S      p.1280

          .         .         .         .         .         .       g.74610
 AACCCGAGACAGCAGCCCCACCTGGACTCAGGGTCCCTGCCTCCCGGACGGCAAGGCCAG       c.3900
 N  P  R  Q  Q  P  H  L  D  S  G  S  L  P  P  G  R  Q  G  Q         p.1300

          .         .         .         .         .         .       g.74670
 CAGCCCCGCAGGGACCCCCCCAGAGAAGGCTTGTGGCCACCCCCCTACAGACCGCGCAGA       c.3960
 Q  P  R  R  D  P  P  R  E  G  L  W  P  P  P  Y  R  P  R  R         p.1320

          .         .         .         .         .         .       g.74730
 GACGCTTTTGAAATTTCTACTGAAGGGCATTCTGGCCCTAGCAATAGGGCCCGCTGGGGC       c.4020
 D  A  F  E  I  S  T  E  G  H  S  G  P  S  N  R  A  R  W  G         p.1340

          .         .         .         .         .         .       g.74790
 CCTCGCGGGGCCCGTTCTCACAACCCTCGGAACCCAGCGTCCACTGCCATGGGCAGCTCC       c.4080
 P  R  G  A  R  S  H  N  P  R  N  P  A  S  T  A  M  G  S  S         p.1360

          .         .         .         .         .         .       g.74850
 GTGCCCGGCTACTGCCAGCCCATCACCACTGTGACGGCTTCTGCCTCCGTGACTGTCGCC       c.4140
 V  P  G  Y  C  Q  P  I  T  T  V  T  A  S  A  S  V  T  V  A         p.1380

          .         .         .         .         .         .       g.74910
 GTGCACCCGCCGCCTGTCCCTGGGCCTGGGCGGAACCCCCGAGGGGGACTCTGCCCAGGC       c.4200
 V  H  P  P  P  V  P  G  P  G  R  N  P  R  G  G  L  C  P  G         p.1400

          .         .         .         .         .         .       g.74970
 TACCCTGAGACTGACCACGGCCTGTTTGAGGACCCCCACGTGCCTTTCCACGTCCGGTGT       c.4260
 Y  P  E  T  D  H  G  L  F  E  D  P  H  V  P  F  H  V  R  C         p.1420

          .         .         .         .         .         .       g.75030
 GAGAGGAGGGATTCGAAGGTGGAAGTCATTGAGCTGCAGGACGTGGAATGCGAGGAGAGG       c.4320
 E  R  R  D  S  K  V  E  V  I  E  L  Q  D  V  E  C  E  E  R         p.1440

          .         .                                           g.75054
 CCCCGGGGAAGCAGCTCCAACTGA |                                        c.4345
 P  R  G  S  S  S  N  X                                          p.1447

   | 24      .         .         .         .         .         .    g.75633
 g | ggtgattaaaatctgaagcaaagaggccaaagattggaaaccccccacccccacctctt    c.*60

          .         .         .         .         .         .       g.75693
 tccagaactgcttgaagagaactggttggagttatggaaaagatgccctgtgccaggaca       c.*120

          .         .         .         .         .         .       g.75753
 gcagttcattgttactgtaaccgattgtattattttgttaaatatttctataaatattta       c.*180

          .         .         .         .         .         .       g.75813
 agagatgtacacatgtgtaatataggaaggaaggatgtaaagtggtatgatctggggctt       c.*240

          .         .         .         .         .         .       g.75873
 ctccactcctgccccagagtgtggaggccacagtggggcctctccgtatttgtgcattgg       c.*300

          .         .         .         .         .         .       g.75933
 gctccgtgccacaaccaagcttcattagtcttaaatttcagcatatgttgctgctgctta       c.*360

          .         .         .         .         .         .       g.75993
 aatattgtataatttacttgtataattctatgcaaatattgcttatgtaataggattatt       c.*420

          .         .         .         .         .         .       g.76053
 ttgtaaaggtttctgtttaaaatattttaaatttgcatatcacaaccctgtggtagtatg       c.*480

          .         .         .         .         .         .       g.76113
 aaatgttactgttaactttcaaacacgctatgcgtgataatttttttgtttaatgagcag       c.*540

          .         .         .         .         .         .       g.76173
 atatgaagaaagcacgttaatcctggtggcttctctaggtgtcgttgtgtgcggtcctct       c.*600

          .         .         .         .         .         .       g.76233
 tgtttggctgtgcgtgtgaacacgtgtgtgagttcaccatgtactgtactgtgatttttt       c.*660

          .         .         .         .         .         .       g.76293
 ttttgtcttgttttgtttctctacactgtctgtaacctgtagtaggctctgacctagtca       c.*720

          .         .         .         .         .         .       g.76353
 ggctggaagcgtcaggatatcttttcttcgtgctggtgagggctggccctaaacatccac       c.*780

          .         .         .         .         .         .       g.76413
 ctaatcctttcaaatcagcccggcaaaagctagactctcctcgtgtctacggcatctctt       c.*840

          .         .         .         .         .         .       g.76473
 atgatcattggctgccatccaggaccccaatttgtgcttcagggggataatctccttctc       c.*900

          .         .         .         .         .         .       g.76533
 tcggatcattgtgatggatgctggaacctcagggtatggagctcacatcagttcatcatg       c.*960

          .         .         .         .         .         .       g.76593
 gtgggtgttagagaattcggtgacatgcctagtgctgagccttggctgggccatgagagt       c.*1020

          .         .         .         .         .         .       g.76653
 ctgtatactctaaaaagcatgcagcatggtgcccctcttctgaccaacacacacacgacc       c.*1080

          .         .         .         .         .         .       g.76713
 cctcccccaacacccccaaattcaagagtggatgtggccctgtcacaggtagaaaaacct       c.*1140

          .         .         .         .         .         .       g.76773
 atttagttaattctttcttggcccacagtctcccagaaatgatgttttgagtccctatag       c.*1200

          .         .         .         .         .         .       g.76833
 tttaaactccctctcttaaatggagcagctggttgaggctttctagatctgtttgcatct       c.*1260

          .         .         .         .         .         .       g.76893
 tctttaaaactaagtggtgagcatgcattgtggtgtagaggcaggcattatgtaggataa       c.*1320

          .         .         .         .         .         .       g.76953
 gagctccggggggattcttcatgcaccagtgtttagggtacgtgcttcctaagtaaatcc       c.*1380

          .         .         .         .         .         .       g.77013
 aaacattgtctccatcctccccgtcattagtgctctttcaatgtgatgtgggaaagcagg       c.*1440

          .         .         .         .         .         .       g.77073
 aggatggacacaccccactgaaagatgtaggcaggggcaggtctctcaaccaggcatatt       c.*1500

          .         .         .         .         .         .       g.77133
 tttaaaagttgcttctgtactggttctcttcttttgctctgaggtgtgggctccctcatc       c.*1560

          .         .         .         .         .         .       g.77193
 tcgtaaccagagaccagcacatgtcagggaagcacccagtgtcggctccccatccaaatc       c.*1620

          .         .         .         .         .         .       g.77253
 cacaccagcaccttgttacagacaagaagtcagaggaaagggcggggtccctgcagggct       c.*1680

          .         .         .         .         .         .       g.77313
 gaagcctaagctactgtgaggcgctcacgagtggcagctcctgttactcccttttaaatt       c.*1740

          .         .         .         .         .         .       g.77373
 acctgggaaatcttaacagaaaggtaatgggcccccagaaatacccacagcatagtgacc       c.*1800

          .         .         .         .         .         .       g.77433
 tcagaccctgatactcaccacaaaacttttaagatgctgattgggagccgcttgtggctg       c.*1860

          .         .         .         .         .         .       g.77493
 ctgggtgtgtgtgtgtgtgtgtgcgtgcgtgcgtgtgtgtgtgtctctgctggggaccct       c.*1920

          .         .         .         .         .         .       g.77553
 ggccacccccctgctgctgtcttggtgcctgtcacccacatggtctgccatcctaacacc       c.*1980

          .         .         .         .         .         .       g.77613
 cagctctgctcagaaaacgtcctgcgtggaggagggatgatgcagaattctgaagtcgac       c.*2040

          .         .         .         .         .         .       g.77673
 ttccctctggctcctggcgtgccctcgctcccttcctgagcccagctcgtgttgcgccgg       c.*2100

          .         .         .         .         .         .       g.77733
 aggctgcgcggcccctgatttctgcatggtgtagaactttctccaatagtcacattggca       c.*2160

          .         .         .         .         .         .       g.77793
 aagggagaactggggtgggcggggggtggggctggcagggaattagaatttctctctctc       c.*2220

          .         .         .         .         .         .       g.77853
 ttttaatagttttattttgtctgtcctgtttgttcatttggatgttttaatttttaaaaa       c.*2280

          .         .         .         .         .         .       g.77913
 aaaaaaaactttgctgatatttataattttgtatcataagaatgttttcctctacagtat       c.*2340

          .         .         .         .         .         .       g.77973
 ttgtcatgccagtttataacaaaaaaaaatgcagggattttatttctattggaaacatta       c.*2400

          .         .         .         .         .         .       g.78033
 cagctatgttttacttttggacagaatttttatttgtatagagtgcttactaatgttaaa       c.*2460

          .         .         .         .         .         .       g.78093
 tagttcagagtatataacatttacattaaggactcatggtaggttttagggtaaggagtt       c.*2520

          .         .         .         .         .         .       g.78153
 taaaggaaataaatattcaaactgggtctcattgccaattttggtggaaatgagtttgtg       c.*2580

          .         .         .         .         .         .       g.78213
 tcatttcaattacaaagataaaagtatgccatataatttatttatatgaagatttatttt       c.*2640

          .         .         .         .         .         .       g.78273
 tgtagtgtacatagtagtcatcaagtcttttgacagaagtatatttttaaagaatttata       c.*2700

          .         .         .         .         .         .       g.78333
 tgtgatgaatccataatgtctggaactttgctgagacatgagtgggcacagttttcattg       c.*2760

          .         .         .         .         .         .       g.78393
 taaattacagcaaggaaagaaaatgtttaacagtgttaagagagtcagagcagagtggat       c.*2820

          .         .         .         .         .         .       g.78453
 attcatgcgattatgaagtgtttattagttaccattggcgacctagcatgcttctcattt       c.*2880

          .         .         .         .         .         .       g.78513
 caaaccttggaaggtgaaaatgtacaaactctctaaataattaatgttcaaacactgata       c.*2940

          .         .         .         .         .         .       g.78573
 gaaattctaacatgaataaaaaataatataacttgttggttatatctttgtttgtagaat       c.*3000

          .         .         .         .         .         .       g.78633
 gctttttttctttaaaatacttgggagagacagttagtgttggagccatcagaaactgtt       c.*3060

          .         .         .         .         .         .       g.78693
 gtttcatcttgctgaccttgtgacactcttcttttttgctctatctgatggagagagttt       c.*3120

          .         .         .         .         .         .       g.78753
 taggttttcctcctttttgttttgtataaatagtgggtataagcatagctctgttacatg       c.*3180

          .         .         .         .         .         .       g.78813
 gatgtattacaaagtgggggctgagcttttagtgtgatcatcacccaaatagtgtacatt       c.*3240

          .         .         .         .         .         .       g.78873
 gtacccattaattaatttcttatcacctgaccctatttttgttttctcataccaagaaac       c.*3300

          .         .         .         .         .         .       g.78933
 ttcctaagttaaccatcaaaattagtccttctgtcatctctcttagcatacttatttccc       c.*3360

          .         .         .         .         .                 g.78984
 ttatgtgatgcctaataatgagggaacataaataaagccaaattcaaagat                c.*3411

 (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 Patched 1 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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