retinitis pigmentosa 1 (autosomal dominant) (RP1) - coding DNA reference sequence

(used for variant description)

(last modified February 28, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_006269.1 in the RP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009840.1, covering RP1 transcript NM_006269.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5028
                                 gacatactgagaataaatccaaagacat       c.-121

 .         .         .         .         .         .                g.5088
 tagtttctttgcacgaaatgaggttacatatccagtgacatttatttgagctatttaaac       c.-61

 .         .         .         .         .        | 02.             g.9900
 aacttaaacatctttttcttttcttaataagggacgtttcaagttgtg | gtctcagccaaa    c.-1

          .         .         .         .         .         .       g.9960
 ATGAGTGATACCCCTTCTACTGGTTTTTCCATCATTCATCCTACGTCTTCTGAAGGTCAA       c.60
 M  S  D  T  P  S  T  G  F  S  I  I  H  P  T  S  S  E  G  Q         p.20

          .         .         .         .         .         .       g.10020
 GTTCCACCCCCTCGCCATTTGAGCCTCACTCATCCTGTTGTGGCCAAGCGAATCAGTTTC       c.120
 V  P  P  P  R  H  L  S  L  T  H  P  V  V  A  K  R  I  S  F         p.40

          .         .         .         .         .         .       g.10080
 TACAAGAGCGGAGACCCCCAATTCGGCGGGGTCAGGGTGGTGGTCAACCCTCGCTCCTTT       c.180
 Y  K  S  G  D  P  Q  F  G  G  V  R  V  V  V  N  P  R  S  F         p.60

          .         .         .         .         .         .       g.10140
 AAGTCCTTTGATGCTCTGCTGGATAACTTGTCCAGGAAGGTGCCCCTCCCTTTTGGAGTG       c.240
 K  S  F  D  A  L  L  D  N  L  S  R  K  V  P  L  P  F  G  V         p.80

          .         .         .         .         .         .       g.10200
 AGGAACATCAGCACCCCTCGGGGCAGGCACAGCATCACGCGCCTGGAGGAGCTGGAGGAC       c.300
 R  N  I  S  T  P  R  G  R  H  S  I  T  R  L  E  E  L  E  D         p.100

          .         .         .         .         .         .       g.10260
 GGCGAGTCCTACCTATGTTCCCACGGCAGGAAGGTGCAGCCTGTAGACCTGGACAAAGCC       c.360
 G  E  S  Y  L  C  S  H  G  R  K  V  Q  P  V  D  L  D  K  A         p.120

          .         .         .         .         .         .       g.10320
 CGTCGGCGCCCGCGGCCCTGGCTCAGCAGCCGGGCCATTAGCGCGCACTCACCGCCCCAC       c.420
 R  R  R  P  R  P  W  L  S  S  R  A  I  S  A  H  S  P  P  H         p.140

          .         .         .         .         .         .       g.10380
 CCCGTAGCCGTCGCTGCTCCCGGCATGCCCCGCCCCCCACGGAGCCTAGTGGTCTTCAGG       c.480
 P  V  A  V  A  A  P  G  M  P  R  P  P  R  S  L  V  V  F  R         p.160

          .         .         .         .         .         .       g.10440
 AATGGCGACCCGAAGACGAGGCGTGCGGTTCTTCTGAGCAGGAGGGTCACCCAGAGCTTC       c.540
 N  G  D  P  K  T  R  R  A  V  L  L  S  R  R  V  T  Q  S  F         p.180

          .         .         .         .         .         .       g.10500
 GAGGCATTTCTACAGCACCTGACAGAGGTCATGCAGCGCCCTGTGGTCAAGCTGTACGCT       c.600
 E  A  F  L  Q  H  L  T  E  V  M  Q  R  P  V  V  K  L  Y  A         p.200

          .      | 03  .         .         .         .         .    g.11095
 ACGGACGGAAGGAGG | GTTCCCAGCCTCCAGGCAGTGATCCTGAGCTCTGGAGCTGTGGTG    c.660
 T  D  G  R  R   | V  P  S  L  Q  A  V  I  L  S  S  G  A  V  V      p.220

          .         .         .         .         .         .       g.11155
 GCGGCAGGAAGGGAGCCATTTAAACCAGGAAATTATGACATCCAAAAATACTTGCTTCCT       c.720
 A  A  G  R  E  P  F  K  P  G  N  Y  D  I  Q  K  Y  L  L  P         p.240

          .         .         .         .         .         .       g.11215
 GCTAGATTACCAGGGATCTCTCAGCGTGTGTACCCCAAGGGAAATGCAAAGTCAGAAAGC       c.780
 A  R  L  P  G  I  S  Q  R  V  Y  P  K  G  N  A  K  S  E  S         p.260

         | 04.         .         .         .         .         .    g.13656
 AGAAAGA | TAAGCACACATATGTCTTCAAGCTCAAGGTCCCAGATTTATTCTGTTTCTTCT    c.840
 R  K  I |   S  T  H  M  S  S  S  S  R  S  Q  I  Y  S  V  S  S      p.280

          .         .         .         .         .         .       g.13716
 GAGAAAACACATAATAATGATTGCTACTTAGACTATTCTTTTGTTCCTGAAAAGTACTTG       c.900
 E  K  T  H  N  N  D  C  Y  L  D  Y  S  F  V  P  E  K  Y  L         p.300

          .         .         .         .         .         .       g.13776
 GCCTTAGAAAAGAATGATTCTCAGAATTTACCAATATATCCTTCTGAAGATGATATTGAG       c.960
 A  L  E  K  N  D  S  Q  N  L  P  I  Y  P  S  E  D  D  I  E         p.320

          .         .         .         .         .         .       g.13836
 AAATCAATTATTTTTAATCAAGACGGCACTATGACAGTTGAGATGAAAGTTCGATTCAGA       c.1020
 K  S  I  I  F  N  Q  D  G  T  M  T  V  E  M  K  V  R  F  R         p.340

          .         .         .         .         .         .       g.13896
 ATAAAAGAGGAAGAAACCATAAAATGGACAACTACTGTCAGTAAAACTGGTCCTTCTAAT       c.1080
 I  K  E  E  E  T  I  K  W  T  T  T  V  S  K  T  G  P  S  N         p.360

          .         .         .         .         .         .       g.13956
 AATGATGAAAAGAGTGAGATGAGTTTTCCAGGAAGAACAGAAAGTCGATCATCTGGTTTA       c.1140
 N  D  E  K  S  E  M  S  F  P  G  R  T  E  S  R  S  S  G  L         p.380

          .         .         .         .         .         .       g.14016
 AAGCTTGCAGCATGTTCATTCTCTGCAGATGTGTCACCTATGGAGCGAAGCAGTAATCAA       c.1200
 K  L  A  A  C  S  F  S  A  D  V  S  P  M  E  R  S  S  N  Q         p.400

          .         .         .         .         .         .       g.14076
 GAGGGCAGTTTGGCAGAGGAGATAAACATTCAAATGACAGATCAAGTGGCTGAAACTTGC       c.1260
 E  G  S  L  A  E  E  I  N  I  Q  M  T  D  Q  V  A  E  T  C         p.420

          .         .         .         .         .         .       g.14136
 AGTTCTGCTAGTTGGGAGAATGCTACTGTGGACACAGATATCATCCAGGGAACTCAAGAC       c.1320
 S  S  A  S  W  E  N  A  T  V  D  T  D  I  I  Q  G  T  Q  D         p.440

          .         .         .         .         .         .       g.14196
 CAAGCAAAGCATCGTTTTTATAGGCCCCCTACACCTGGACTAAGAAGAGTGAGACAAAAG       c.1380
 Q  A  K  H  R  F  Y  R  P  P  T  P  G  L  R  R  V  R  Q  K         p.460

          .         .         .         .         .         .       g.14256
 AAATCTGTGATTGGCAGTGTGACCTTAGTATCTGAAACTGAGGTTCAAGAGAAAATGATT       c.1440
 K  S  V  I  G  S  V  T  L  V  S  E  T  E  V  Q  E  K  M  I         p.480

          .         .         .         .         .         .       g.14316
 GGACAGTTTTCATATAGTGAAGAAAGGGAAAGTGGGGAAAACAAGTCTGAGTATCACATG       c.1500
 G  Q  F  S  Y  S  E  E  R  E  S  G  E  N  K  S  E  Y  H  M         p.500

          .         .         .         .         .         .       g.14376
 TTTACACATTCTTGCAGTAAAATGTCATCAGTATCTAACAAACCAGTACTTGTTCAGATC       c.1560
 F  T  H  S  C  S  K  M  S  S  V  S  N  K  P  V  L  V  Q  I         p.520

          .         .         .         .         .         .       g.14436
 AATAACAATGATCAAATGGAGGAGTCATCATTAGAAAGAAAAAAGGAAAACAGTCTGCTT       c.1620
 N  N  N  D  Q  M  E  E  S  S  L  E  R  K  K  E  N  S  L  L         p.540

          .         .         .         .         .         .       g.14496
 AAGTCAAGTGCAATAAGTGCTGGTGTTATAGAAATTACAAGTCAGAAGATGTTAGAGATG       c.1680
 K  S  S  A  I  S  A  G  V  I  E  I  T  S  Q  K  M  L  E  M         p.560

          .         .         .         .         .         .       g.14556
 TCACATAATAATGGTTTGCCATCAACTATATCAAATAACTCAATTGTGGAGGAAGATGTA       c.1740
 S  H  N  N  G  L  P  S  T  I  S  N  N  S  I  V  E  E  D  V         p.580

          .         .         .         .         .         .       g.14616
 GTTGATTGTGTGGTATTGGACAACAAAACTGGTATCAAGAACTTCAAAACTTATGGTAAC       c.1800
 V  D  C  V  V  L  D  N  K  T  G  I  K  N  F  K  T  Y  G  N         p.600

          .         .         .         .         .         .       g.14676
 ACCAATGATAGGTTCAGTCCTATTTCAGCAGATGCAACCCATTTTTCAAGTAATAACTCT       c.1860
 T  N  D  R  F  S  P  I  S  A  D  A  T  H  F  S  S  N  N  S         p.620

          .         .         .         .         .         .       g.14736
 GGAACTGACAAAAATATTTCTGAGGCTCCAGCTTCAGAAGCATCCTCTACTGTCACTGCA       c.1920
 G  T  D  K  N  I  S  E  A  P  A  S  E  A  S  S  T  V  T  A         p.640

          .         .         .         .         .         .       g.14796
 AGAATTGACAGACTAATTAATGAATTTGCTCAGTGTGGTTTAACAAAACTTCCAAAAAAT       c.1980
 R  I  D  R  L  I  N  E  F  A  Q  C  G  L  T  K  L  P  K  N         p.660

          .         .         .         .         .         .       g.14856
 GAAAAGAAGATTTTGTCATCTGTTGCCAGCAAAAAGAAGAAAAAATCTCGACAGCAAGCA       c.2040
 E  K  K  I  L  S  S  V  A  S  K  K  K  K  K  S  R  Q  Q  A         p.680

          .         .         .         .         .         .       g.14916
 ATAAATTCCAGGTATCAAGATGGACAGCTTGCAACCAAAGGAATTCTTAATAAGAATGAG       c.2100
 I  N  S  R  Y  Q  D  G  Q  L  A  T  K  G  I  L  N  K  N  E         p.700

          .         .         .         .         .         .       g.14976
 AGAATAAACACAAAAGGTAGAATTACAAAGGAAATGATAGTGCAAGATTCAGATAGTCCC       c.2160
 R  I  N  T  K  G  R  I  T  K  E  M  I  V  Q  D  S  D  S  P         p.720

          .         .         .         .         .         .       g.15036
 CTTAAAGGAGGGATACTTTGTGAGGAAGACCTCCAGAAAAGTGATACTGTAATTGAATCA       c.2220
 L  K  G  G  I  L  C  E  E  D  L  Q  K  S  D  T  V  I  E  S         p.740

          .         .         .         .         .         .       g.15096
 AATACTTTTTGTTCCAAAAGTAATCTCAATTCCACGATTTCCAAGAATTTCCATAGAAAT       c.2280
 N  T  F  C  S  K  S  N  L  N  S  T  I  S  K  N  F  H  R  N         p.760

          .         .         .         .         .         .       g.15156
 AAATTAAATACTACTCAAAATTCCAAGGTTCAAGGACTTTTAACCAAAAGAAAATCTAGA       c.2340
 K  L  N  T  T  Q  N  S  K  V  Q  G  L  L  T  K  R  K  S  R         p.780

          .         .         .         .         .         .       g.15216
 TCACTAAATAAAATAAGCTTAGGAGCACCTAAAAAAAGAGAAATCGGTCAAAGAGATAAA       c.2400
 S  L  N  K  I  S  L  G  A  P  K  K  R  E  I  G  Q  R  D  K         p.800

          .         .         .         .         .         .       g.15276
 GTGTTTCCTCACAATGAATCTAAATATTGCAAAAGTACTTTTGAAAACAAAAGTTTATTT       c.2460
 V  F  P  H  N  E  S  K  Y  C  K  S  T  F  E  N  K  S  L  F         p.820

          .         .         .         .         .         .       g.15336
 CATGTATTTAACATCCTTGAGCAAAAACCCAAAGATTTTTATGCACCGCAATCTCAAGCA       c.2520
 H  V  F  N  I  L  E  Q  K  P  K  D  F  Y  A  P  Q  S  Q  A         p.840

          .         .         .         .         .         .       g.15396
 GAAGTGGCATCTGGGTATTTGAGAGGAATGGCAAAGAAGAGTTTAGTTTCAAAAGTTACT       c.2580
 E  V  A  S  G  Y  L  R  G  M  A  K  K  S  L  V  S  K  V  T         p.860

          .         .         .         .         .         .       g.15456
 GATTCACACATAACTTTAAAAAGCCAGAAAAAACGTAAAGGGGATAAAGTGAAAGCAAGT       c.2640
 D  S  H  I  T  L  K  S  Q  K  K  R  K  G  D  K  V  K  A  S         p.880

          .         .         .         .         .         .       g.15516
 GCTATTTTAAGTAAACAACATGCTACAACCAGGGCAAATTCTTTAGCTTCTTTGAAAAAA       c.2700
 A  I  L  S  K  Q  H  A  T  T  R  A  N  S  L  A  S  L  K  K         p.900

          .         .         .         .         .         .       g.15576
 CCTGATTTTCCTGAGGCTATTGCTCATCATTCAATTCAAAATTATATACAGAGTTGGTTG       c.2760
 P  D  F  P  E  A  I  A  H  H  S  I  Q  N  Y  I  Q  S  W  L         p.920

          .         .         .         .         .         .       g.15636
 CAGAACATAAATCCATATCCAACTTTAAAGCCTATAAAATCAGCTCCAGTATGTAGAAAT       c.2820
 Q  N  I  N  P  Y  P  T  L  K  P  I  K  S  A  P  V  C  R  N         p.940

          .         .         .         .         .         .       g.15696
 GAAACGAGTGTGGTAAATTGTAGCAATAATAGTTTTTCAGGGAATGATCCCCATACAAAT       c.2880
 E  T  S  V  V  N  C  S  N  N  S  F  S  G  N  D  P  H  T  N         p.960

          .         .         .         .         .         .       g.15756
 TCTGGAAAAATAAGTAATTTTGTTATGGAAAGTAATAAGCACATAACTAAAATTGCCGGT       c.2940
 S  G  K  I  S  N  F  V  M  E  S  N  K  H  I  T  K  I  A  G         p.980

          .         .         .         .         .         .       g.15816
 TTGACAGGAGATAATCTATGTAAAGAGGGAGATAAGTCTTTTATTGCCAATGACACTGGT       c.3000
 L  T  G  D  N  L  C  K  E  G  D  K  S  F  I  A  N  D  T  G         p.1000

          .         .         .         .         .         .       g.15876
 GAAGAAGATCTCCATGAGACACAGGTTGGATCTCTGAATGATGCTTATTTGGTTCCCCTG       c.3060
 E  E  D  L  H  E  T  Q  V  G  S  L  N  D  A  Y  L  V  P  L         p.1020

          .         .         .         .         .         .       g.15936
 CATGAACACTGTACTTTGTCACAGTCAGCTATTAATGATCATAATACTAAAAGTCATATA       c.3120
 H  E  H  C  T  L  S  Q  S  A  I  N  D  H  N  T  K  S  H  I         p.1040

          .         .         .         .         .         .       g.15996
 GCTGCTGAAAAATCAGGACCAGAGAAAAAACTTGTTTACCAGGAAATAAACCTAGCTAGA       c.3180
 A  A  E  K  S  G  P  E  K  K  L  V  Y  Q  E  I  N  L  A  R         p.1060

          .         .         .         .         .         .       g.16056
 AAAAGGCAAAGTGTAGAGGCTGCCATTCAAGTAGATCCTATAGAAGAGGAAACTCCAAAA       c.3240
 K  R  Q  S  V  E  A  A  I  Q  V  D  P  I  E  E  E  T  P  K         p.1080

          .         .         .         .         .         .       g.16116
 GACCTCTTACCAGTCCTGATGCTTCACCAATTGCAAGCTTCAGTTCCTGGTATTCACAAG       c.3300
 D  L  L  P  V  L  M  L  H  Q  L  Q  A  S  V  P  G  I  H  K         p.1100

          .         .         .         .         .         .       g.16176
 ACTCAGAATGGAGTTGTTCAAATGCCAGGTTCACTTGCAGGTGTTCCCTTTCATTCTGCA       c.3360
 T  Q  N  G  V  V  Q  M  P  G  S  L  A  G  V  P  F  H  S  A         p.1120

          .         .         .         .         .         .       g.16236
 ATATGTAATTCATCCACTAATCTCCTTCTAGCTTGGCTCTTGGTGCTAAACCTAAAGGGA       c.3420
 I  C  N  S  S  T  N  L  L  L  A  W  L  L  V  L  N  L  K  G         p.1140

          .         .         .         .         .         .       g.16296
 AGTATGAATAGCTTCTGTCAAGTTGATGCTCACAAGGCTACCAACAAATCTTCAGAAACA       c.3480
 S  M  N  S  F  C  Q  V  D  A  H  K  A  T  N  K  S  S  E  T         p.1160

          .         .         .         .         .         .       g.16356
 CTTGCATTGTTGGAGATTCTAAAGCACATAGCTATCACAGAGGAAGCTGATGACTTGAAA       c.3540
 L  A  L  L  E  I  L  K  H  I  A  I  T  E  E  A  D  D  L  K         p.1180

          .         .         .         .         .         .       g.16416
 GCTGCTGTTGCCAATTTAGTGGAGTCAACTACAAGCCACTTTGGACTCAGTGAGAAAGAA       c.3600
 A  A  V  A  N  L  V  E  S  T  T  S  H  F  G  L  S  E  K  E         p.1200

          .         .         .         .         .         .       g.16476
 CAAGACATGGTTCCAATAGATCTTTCTGCAAATTGTTCCACGGTCAACATTCAGAGTGTT       c.3660
 Q  D  M  V  P  I  D  L  S  A  N  C  S  T  V  N  I  Q  S  V         p.1220

          .         .         .         .         .         .       g.16536
 CCTAAGTGCAGTGAAAATGAAAGAACACAAGGAATCTCCTCTTTGGATGGAGGTTGCTCT       c.3720
 P  K  C  S  E  N  E  R  T  Q  G  I  S  S  L  D  G  G  C  S         p.1240

          .         .         .         .         .         .       g.16596
 GCCAGTGAGGCATGTGCCCCTGAAGTCTGTGTTTTGGAAGTGACTTGCTCTCCATGTGAG       c.3780
 A  S  E  A  C  A  P  E  V  C  V  L  E  V  T  C  S  P  C  E         p.1260

          .         .         .         .         .         .       g.16656
 ATGTGCACTGTAAATAAGGCTTATTCTCCAAAAGAGACATGTAACCCCAGTGACACTTTT       c.3840
 M  C  T  V  N  K  A  Y  S  P  K  E  T  C  N  P  S  D  T  F         p.1280

          .         .         .         .         .         .       g.16716
 TTTCCTAGTGATGGTTATGGTGTGGATCAGACTTCTATGAATAAGGCTTGTTTCCTAGGA       c.3900
 F  P  S  D  G  Y  G  V  D  Q  T  S  M  N  K  A  C  F  L  G         p.1300

          .         .         .         .         .         .       g.16776
 GAGGTCTGTTCACTTACTGATACTGTGTTTTCTGATAAGGCTTGTGCTCAAAAGGAGAAC       c.3960
 E  V  C  S  L  T  D  T  V  F  S  D  K  A  C  A  Q  K  E  N         p.1320

          .         .         .         .         .         .       g.16836
 CATACCTATGAGGGAGCTTGCCCAATTGATGAGACCTACGTTCCTGTCAATGTCTGCAAT       c.4020
 H  T  Y  E  G  A  C  P  I  D  E  T  Y  V  P  V  N  V  C  N         p.1340

          .         .         .         .         .         .       g.16896
 ACCATTGACTTTTTAAACTCCAAAGAAAACACATATACTGATAACTTGGATTCAACTGAA       c.4080
 T  I  D  F  L  N  S  K  E  N  T  Y  T  D  N  L  D  S  T  E         p.1360

          .         .         .         .         .         .       g.16956
 GAGTTAGAAAGAGGTGATGACATTCAGAAAGATCTAAATATTTTGACAGACCCTGAATAT       c.4140
 E  L  E  R  G  D  D  I  Q  K  D  L  N  I  L  T  D  P  E  Y         p.1380

          .         .         .         .         .         .       g.17016
 AAAAATGGATTTAATACATTGGTGTCACATCAAAATGTCAGTAATTTAAGCTCCTGTGGC       c.4200
 K  N  G  F  N  T  L  V  S  H  Q  N  V  S  N  L  S  S  C  G         p.1400

          .         .         .         .         .         .       g.17076
 CTTTGCCTAAGTGAAAAAGAAGCAGAACTTGATAAGAAACATAGTTCTCTAGATGATTTT       c.4260
 L  C  L  S  E  K  E  A  E  L  D  K  K  H  S  S  L  D  D  F         p.1420

          .         .         .         .         .         .       g.17136
 GAAAATTGTTCACTAAGGAAGTTTCAGGATGAAAATGCATATACTTCCTTTGATATGGAA       c.4320
 E  N  C  S  L  R  K  F  Q  D  E  N  A  Y  T  S  F  D  M  E         p.1440

          .         .         .         .         .         .       g.17196
 GAACCACGGACTTCTGAAGAACCAGGCTCAATAACCAACAGCATGACATCAAGTGAAAGA       c.4380
 E  P  R  T  S  E  E  P  G  S  I  T  N  S  M  T  S  S  E  R         p.1460

          .         .         .         .         .         .       g.17256
 AACATTTCAGAATTGGAATCTTTTGAAGAATTAGAAAACCATGACACTGATATCTTTAAT       c.4440
 N  I  S  E  L  E  S  F  E  E  L  E  N  H  D  T  D  I  F  N         p.1480

          .         .         .         .         .         .       g.17316
 ACAGTGGTAAATGGAGGAGAGCAAGCCACTGAAGAATTAATCCAAGAAGAGGTAGAGGCT       c.4500
 T  V  V  N  G  G  E  Q  A  T  E  E  L  I  Q  E  E  V  E  A         p.1500

          .         .         .         .         .         .       g.17376
 AGTAAAACTTTAGAATTGATAGACATCTCTAGTAAGAATATTATGGAAGAAAAAAGAATG       c.4560
 S  K  T  L  E  L  I  D  I  S  S  K  N  I  M  E  E  K  R  M         p.1520

          .         .         .         .         .         .       g.17436
 AACGGTATAATTTATGAAATAATCAGTAAGAGGCTGGCAACACCACCATCTTTAGATTTT       c.4620
 N  G  I  I  Y  E  I  I  S  K  R  L  A  T  P  P  S  L  D  F         p.1540

          .         .         .         .         .         .       g.17496
 TGCTATGATTCTAAGCAAAATAGTGAAAAGGAGACCAATGAAGGAGAAACTAAGATGGTA       c.4680
 C  Y  D  S  K  Q  N  S  E  K  E  T  N  E  G  E  T  K  M  V         p.1560

          .         .         .         .         .         .       g.17556
 AAAATGATGGTGAAAACTATGGAAACTGGAAGTTATTCAGAGTCCTCTCCTGATTTAAAA       c.4740
 K  M  M  V  K  T  M  E  T  G  S  Y  S  E  S  S  P  D  L  K         p.1580

          .         .         .         .         .         .       g.17616
 AAATGCATCAAAAGTCCAGTGACTTCTGATTGGTCAGACTATCGGCCTGACAGTGACAGT       c.4800
 K  C  I  K  S  P  V  T  S  D  W  S  D  Y  R  P  D  S  D  S         p.1600

          .         .         .         .         .         .       g.17676
 GAGCAGCCATATAAAACATCCAGTGATGATCCCAATGACAGTGGCGAACTTACCCAAGAG       c.4860
 E  Q  P  Y  K  T  S  S  D  D  P  N  D  S  G  E  L  T  Q  E         p.1620

          .         .         .         .         .         .       g.17736
 AAAGAATATAACATAGGATTTGTTAAAAGGGCAATAGAAAAACTGTACGGTAAAGCAGAT       c.4920
 K  E  Y  N  I  G  F  V  K  R  A  I  E  K  L  Y  G  K  A  D         p.1640

          .         .         .         .         .         .       g.17796
 ATTATCAAACCATCTTTTTTTCCTGGGTCTACCCGCAAATCTCAGGTTTGTCCTTATAAT       c.4980
 I  I  K  P  S  F  F  P  G  S  T  R  K  S  Q  V  C  P  Y  N         p.1660

          .         .         .         .         .         .       g.17856
 TCTGTGGAATTTCAGTGTTCCAGGAAAGCAAGTCTTTATGATTCTGAAGGGCAGTCATTT       c.5040
 S  V  E  F  Q  C  S  R  K  A  S  L  Y  D  S  E  G  Q  S  F         p.1680

          .         .         .         .         .         .       g.17916
 GGCTCTTCTGAACAGGTATCTAGTAGTTCATCTATGTTGCAGGAATTCCAGGAGGAAAGA       c.5100
 G  S  S  E  Q  V  S  S  S  S  S  M  L  Q  E  F  Q  E  E  R         p.1700

          .         .         .         .         .         .       g.17976
 CAAGATAAGTGTGATGTTAGTGCTGTGAGGGACAATTATTGTAGGGGTGACATTGTAGAA       c.5160
 Q  D  K  C  D  V  S  A  V  R  D  N  Y  C  R  G  D  I  V  E         p.1720

          .         .         .         .         .         .       g.18036
 CCTGGTACAAAACAAAATGATGATAGCAGAATCCTCACAGACATAGAGGAAGGAGTACTG       c.5220
 P  G  T  K  Q  N  D  D  S  R  I  L  T  D  I  E  E  G  V  L         p.1740

          .         .         .         .         .         .       g.18096
 ATTGACAAAGGCAAATGGCTTCTGAAAGAAAATCATTTGCTAAGGATGTCATCTGAAAAT       c.5280
 I  D  K  G  K  W  L  L  K  E  N  H  L  L  R  M  S  S  E  N         p.1760

          .         .         .         .         .         .       g.18156
 CCTGGCATGTGTGGCAATGCAGACACCACATCAGTGGACACCCTACTTGATAATAACAGC       c.5340
 P  G  M  C  G  N  A  D  T  T  S  V  D  T  L  L  D  N  N  S         p.1780

          .         .         .         .         .         .       g.18216
 AGTGAGGTACCATATTCACATTTTGGTAATTTGGCCCCAGGCCCAACGATGGATGAACTC       c.5400
 S  E  V  P  Y  S  H  F  G  N  L  A  P  G  P  T  M  D  E  L         p.1800

          .         .         .         .         .         .       g.18276
 TCCTCTTCAGAACTCGAGGAACTGACTCAACCCCTTGAACTAAAATGCAATTACTTTAAC       c.5460
 S  S  S  E  L  E  E  L  T  Q  P  L  E  L  K  C  N  Y  F  N         p.1820

          .         .         .         .         .         .       g.18336
 ATGCCTCATGGTAGTGACTCAGAACCTTTTCATGAGGACTTGCTGGATGTTCGCAATGAA       c.5520
 M  P  H  G  S  D  S  E  P  F  H  E  D  L  L  D  V  R  N  E         p.1840

          .         .         .         .         .         .       g.18396
 ACCTGTGCCAAGGAAAGAATAGCAAATCATCATACAGAGGAGAAGGGTAGTCATCAGTCA       c.5580
 T  C  A  K  E  R  I  A  N  H  H  T  E  E  K  G  S  H  Q  S         p.1860

          .         .         .         .         .         .       g.18456
 GAAAGAGTATGCACATCTGTCACTCATTCCTTTATTTCTGCTGGTAACAAAGTCTACCCT       c.5640
 E  R  V  C  T  S  V  T  H  S  F  I  S  A  G  N  K  V  Y  P         p.1880

          .         .         .         .         .         .       g.18516
 GTCTCTGATGATGCTATTAAAAACCAACCATTGCCTGGCAGTAATATGATTCATGGTACA       c.5700
 V  S  D  D  A  I  K  N  Q  P  L  P  G  S  N  M  I  H  G  T         p.1900

          .         .         .         .         .         .       g.18576
 CTTCAGGAAGCTGACTCTTTGGATAAACTGTATGCTCTTTGTGGTCAACATTGCCCAATA       c.5760
 L  Q  E  A  D  S  L  D  K  L  Y  A  L  C  G  Q  H  C  P  I         p.1920

          .         .         .         .         .         .       g.18636
 CTAACTGTTATTATCCAACCCATGAATGAGGAAGACCGAGGATTTGCATATCGCAAAGAA       c.5820
 L  T  V  I  I  Q  P  M  N  E  E  D  R  G  F  A  Y  R  K  E         p.1940

          .         .         .         .         .         .       g.18696
 TCTGATATTGAAAATTTCTTGGGTTTTTATTTATGGATGAAAATACACCCATATTTACTT       c.5880
 S  D  I  E  N  F  L  G  F  Y  L  W  M  K  I  H  P  Y  L  L         p.1960

          .         .         .         .         .         .       g.18756
 CAGACAGACAAAAATGTGTTCAGGGAAGAGAACAATAAAGCAAGTATGAGACAAAATCTT       c.5940
 Q  T  D  K  N  V  F  R  E  E  N  N  K  A  S  M  R  Q  N  L         p.1980

          .         .         .         .         .         .       g.18816
 ATTGATAATGCCATTGGTGATATATTTGATCAGTTTTATTTCAGTAACACATTTGACTTG       c.6000
 I  D  N  A  I  G  D  I  F  D  Q  F  Y  F  S  N  T  F  D  L         p.2000

          .         .         .         .         .         .       g.18876
 ATGGGTAAAAGAAGAAAACAAAAAAGAATTAACTTCTTGGGGTTAGAGGAAGAAGGTAAT       c.6060
 M  G  K  R  R  K  Q  K  R  I  N  F  L  G  L  E  E  E  G  N         p.2020

          .         .         .         .         .         .       g.18936
 TTAAAGAAATTTCAACCAGATTTGAAGGAAAGGTTTTGTATGAATTTCTTGCACACATCA       c.6120
 L  K  K  F  Q  P  D  L  K  E  R  F  C  M  N  F  L  H  T  S         p.2040

          .         .         .         .         .         .       g.18996
 TTGTTAGTTGTGGGTAATGTGGATTCAAATACACAAGACCTCAGCGGTCAGACAAATGAA       c.6180
 L  L  V  V  G  N  V  D  S  N  T  Q  D  L  S  G  Q  T  N  E         p.2060

          .         .         .         .         .         .       g.19056
 ATCTTTAAAGCAGTCGATGAGAATAACAACTTATTAAATAACAGATTCCAGGGCTCAAGA       c.6240
 I  F  K  A  V  D  E  N  N  N  L  L  N  N  R  F  Q  G  S  R         p.2080

          .         .         .         .         .         .       g.19116
 ACAAATCTCAACCAAGTAGTAAGAGAAAATATCAACTGTCATTACTTCTTTGAAATGCTT       c.6300
 T  N  L  N  Q  V  V  R  E  N  I  N  C  H  Y  F  F  E  M  L         p.2100

          .         .         .         .         .         .       g.19176
 GGTCAAGCTTGCCTCTTAGATATTTGCCAAGTTGAGACCTCCTTAAATATTAGCAACAGA       c.6360
 G  Q  A  C  L  L  D  I  C  Q  V  E  T  S  L  N  I  S  N  R         p.2120

          .         .         .         .         .         .       g.19236
 AATATTTTAGAACTTTGTATGTTTGAGGGTGAAAATCTTTTCATTTGGGAAGAGGAAGAC       c.6420
 N  I  L  E  L  C  M  F  E  G  E  N  L  F  I  W  E  E  E  D         p.2140

          .         .         .         .         .                 g.19287
 ATATTAAATTTAACTGATCTTGAAAGCAGTAGAGAACAAGAAGATTTATAA                c.6471
 I  L  N  L  T  D  L  E  S  S  R  E  Q  E  D  L  X                  p.2156

          .         .         .         .         .         .       g.19347
 tttcaatatcagcacactcattctttgtcaattcattttttcccatgagatgaagcacat       c.*60

          .         .         .         .         .         .       g.19407
 gtgacgaatacggactagataacctctaagaattttccacttcttcaaaatgaacttact       c.*120

          .         .         .         .         .         .       g.19467
 ctagaaagcttacccttggataaccagtttgactttcataatgtctctgttttttgtttt       c.*180

          .         .         .         .         .         .       g.19527
 tccaacaattacagactcaggttctcttattttggaagtttctatctggttttgttctga       c.*240

          .         .         .         .         .         .       g.19587
 acttacattttttttttttttggtatctatgattttttttgctcagggcatcaaaatgtg       c.*300

          .         .         .         .         .         .       g.19647
 ctaaggacaagaattatatcctttttaaaaaatgttgttagcttggtgtaaaatgtatat       c.*360

          .         .         .         .         .         .       g.19707
 tgactgtattggtgaataaattgaatagacataacctcaaagtacttcacttattctttt       c.*420

          .         .         .         .         .         .       g.19767
 taactactgatttgataaaaagtatgattataagatatccacgacaatctcatagtttct       c.*480

                                                                    g.19768
 t                                                                  c.*481

 (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 Retinitis pigmentosa 1 (autosomal dominant) 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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