retinitis pigmentosa 1-like 1 (RP1L1) - coding DNA reference sequence

(used for variant description)

(last modified November 26, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_178857.5 in the RP1L1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_028035.1, covering RP1L1 transcript NM_178857.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5049
            ctcctgcccaagggactggggcctcaggctctcaggccaaggagagtgg       c.-181

 .         .         .         .         .         .                g.5109
 ccccgaggactgtccggaggagggtggccagccctgctgcccagagggactgagccactg       c.-121

 .         .         .         .         .         .                g.5169
 gcagggaaggaggcggtgttccccctggcctgactttcctccaaaggacgtccccctgag       c.-61

 .         .         .         .         . | 02       .             g.36906
 gcttaggggctgagccatgcccttgtgctccctggaggacg | cggccagagcccccacacc    c.-1

          .         .         .         .         .         .       g.36966
 ATGAACAGCACCCCCAGGAATGCCCAGGCCCCGAGCCACCGTGAGTGCTTCCTGCCCTCT       c.60
 M  N  S  T  P  R  N  A  Q  A  P  S  H  R  E  C  F  L  P  S         p.20

          .         .         .         .         .         .       g.37026
 GTGGCTCGCACCCCCTCGGTCACCAAGGTCACGCCAGCCAAGAAGATCACCTTCCTCAAG       c.120
 V  A  R  T  P  S  V  T  K  V  T  P  A  K  K  I  T  F  L  K         p.40

          .         .         .         .         .         .       g.37086
 CGAGGGGATCCACGGTTTGCTGGGGTCCGCCTGGCCGTTCACCAGCGCGCCTTTAAGACC       c.180
 R  G  D  P  R  F  A  G  V  R  L  A  V  H  Q  R  A  F  K  T         p.60

          .         .         .         .         .         .       g.37146
 TTCAGCGCCCTCATGGACGAGCTCTCCCAGCGCGTGCCTCTCTCCTTTGGGGTGCGCTCT       c.240
 F  S  A  L  M  D  E  L  S  Q  R  V  P  L  S  F  G  V  R  S         p.80

          .         .         .         .         .         .       g.37206
 GTCACCACACCCCGGGGCCTGCATAGCCTCAGCGCCCTGGAGCAGCTGGAAGATGGAGGC       c.300
 V  T  T  P  R  G  L  H  S  L  S  A  L  E  Q  L  E  D  G  G         p.100

          .         .         .         .         .         .       g.37266
 TGCTACCTCTGCTCTGATAAGAAGCCCCCCAAGACCCCCAGTGGACCAGGCCGGCCACAG       c.360
 C  Y  L  C  S  D  K  K  P  P  K  T  P  S  G  P  G  R  P  Q         p.120

          .         .         .         .         .         .       g.37326
 GAGAGAAACCCCACTGCTCAGCAGTTGCGGGATGTCGAAGGCCAGCGTGAAGCCCCAGGC       c.420
 E  R  N  P  T  A  Q  Q  L  R  D  V  E  G  Q  R  E  A  P  G         p.140

          .         .         .         .         .         .       g.37386
 ACCTCCTCCTCCCGGAAGAGTCTTAAAACCCCCCGGAGGATACTGCTGATTAAGAACATG       c.480
 T  S  S  S  R  K  S  L  K  T  P  R  R  I  L  L  I  K  N  M         p.160

          .         .         .         .         .         .       g.37446
 GACCCTCGCCTCCAGCAGACAGTGGTTCTCAGTCACAGGAATACTAGGAACCTGGCCGCC       c.540
 D  P  R  L  Q  Q  T  V  V  L  S  H  R  N  T  R  N  L  A  A         p.180

          .         .         .         .         .         .       g.37506
 TTTCTCGGCAAAGCCTCAGATCTCCTGCGCTTTCCTGTGAAGCAGTTGTACACGACCAGC       c.600
 F  L  G  K  A  S  D  L  L  R  F  P  V  K  Q  L  Y  T  T  S         p.200

           | 03        .         .         .         .         .    g.43571
 GGGAAAAAG | GTGGACTCGCTGCAGGCCCTGCTGCACAGCCCCTCTGTGCTGGTGTGTGCC    c.660
 G  K  K   | V  D  S  L  Q  A  L  L  H  S  P  S  V  L  V  C  A      p.220

          .         .         .         .         .         .       g.43631
 GGGCATGAGGCCTTCAGAACCCCAGCCATGAAAAATGCCAGGAGAAGCGAGGCTGAAACT       c.720
 G  H  E  A  F  R  T  P  A  M  K  N  A  R  R  S  E  A  E  T         p.240

          .         .         .  | 04      .         .         .    g.46790
 TTATCTGGGCTGACTTCAAGAAACAAAAACG | GGAGCTGGGGGCCAAAGACCAAGCCGAGT    c.780
 L  S  G  L  T  S  R  N  K  N  G |   S  W  G  P  K  T  K  P  S      p.260

          .         .         .         .         .         .       g.46850
 GTGATCCATTCGCGGTCTCCGCCAGGCAGCACGCCACGGCTGCCAGAAAGGCCTGGTCCT       c.840
 V  I  H  S  R  S  P  P  G  S  T  P  R  L  P  E  R  P  G  P         p.280

          .         .         .         .         .         .       g.46910
 AGCAACCCCCCGGTGGGCCCTGCTCCTGGCAGGCACCCTCAGGACACGCCAGCTCAGTCG       c.900
 S  N  P  P  V  G  P  A  P  G  R  H  P  Q  D  T  P  A  Q  S         p.300

          .         .         .         .         .         .       g.46970
 GGCCCGCTGGTGGCTGGCGATGACATGAAGAAGAAGGTCCGCATGAATGAGGACGGCAGC       c.960
 G  P  L  V  A  G  D  D  M  K  K  K  V  R  M  N  E  D  G  S         p.320

          .         .         .         .         .         .       g.47030
 CTGTCCGTGGAGATGAAAGTCCGCTTCCACCTGGTCGGCGAGGACACGCTCCTATGGTCC       c.1020
 L  S  V  E  M  K  V  R  F  H  L  V  G  E  D  T  L  L  W  S         p.340

          .         .         .         .         .         .       g.47090
 CGGAGGATGGGCAGGGCCAGCGCCCTCACGGCAGCCAGTGGGGAAGACCCCGTTCTGGGG       c.1080
 R  R  M  G  R  A  S  A  L  T  A  A  S  G  E  D  P  V  L  G         p.360

          .         .         .         .         .         .       g.47150
 GAGGTAGACCCCCTCTGCTGTGTGTGGGAGGGCTACCCTTGGGGCTTCTCAGAGCCTGGG       c.1140
 E  V  D  P  L  C  C  V  W  E  G  Y  P  W  G  F  S  E  P  G         p.380

          .         .         .         .         .         .       g.47210
 GTGTGGGGACCCCGGCCCTGCAGGGTGGGATGCAGGGAAGTCTTTGGCCGAGGCGGGCAG       c.1200
 V  W  G  P  R  P  C  R  V  G  C  R  E  V  F  G  R  G  G  Q         p.400

          .         .         .         .         .         .       g.47270
 CCAGGGCCCAAGTATGAAATCTGGACGAATCCCCTGCATGCCTCCCAGGGAGAGAGAGTG       c.1260
 P  G  P  K  Y  E  I  W  T  N  P  L  H  A  S  Q  G  E  R  V         p.420

          .         .         .         .         .         .       g.47330
 GCAGCTCGGAAGAGGTGGGGACTGGCCCAGCACGTCCGCTGCAGTGGCCTGTGGGGCCAC       c.1320
 A  A  R  K  R  W  G  L  A  Q  H  V  R  C  S  G  L  W  G  H         p.440

          .         .         .         .         .         .       g.47390
 GGGACTGCCGGGAGGGAGAGATGCAGCCAGGACAGTGCCAGCCCAGCCTCCAGCACCGGC       c.1380
 G  T  A  G  R  E  R  C  S  Q  D  S  A  S  P  A  S  S  T  G         p.460

          .         .         .         .         .         .       g.47450
 CTCCCCGAGGGCTCGGAGCCAGAGTCCTCCTGCTGCCCCAGGACCCCGGAGGACGGGGTG       c.1440
 L  P  E  G  S  E  P  E  S  S  C  C  P  R  T  P  E  D  G  V         p.480

          .         .         .         .         .         .       g.47510
 GACAGTGCCAGCCCCTCTGCCCAGATAGGGGCTGAGCGGAAAGCTGGAGGGAGCCTGGGT       c.1500
 D  S  A  S  P  S  A  Q  I  G  A  E  R  K  A  G  G  S  L  G         p.500

          .         .         .         .         .         .       g.47570
 GAGGACCCCGGCCTATGCATAGATGGAGCAGGGCTGGGCGGCCCAGAGCAAGGCGGCCGC       c.1560
 E  D  P  G  L  C  I  D  G  A  G  L  G  G  P  E  Q  G  G  R         p.520

          .         .         .         .         .         .       g.47630
 CTGACACCGAGGGCCCGGAGTGAGGAGGGGGCTTCTTCGGACTCGTCAGCCAGCACCGGC       c.1620
 L  T  P  R  A  R  S  E  E  G  A  S  S  D  S  S  A  S  T  G         p.540

          .         .         .         .         .         .       g.47690
 TCTCATGAGGGATCCAGCGAATGGGGTGGGCGGCCCCAGGGCTGTCCAGGCAAGGCAAGG       c.1680
 S  H  E  G  S  S  E  W  G  G  R  P  Q  G  C  P  G  K  A  R         p.560

          .         .         .         .         .         .       g.47750
 GCCGAGACCTCTCAGCAGGAGGCCAGCGAGGGAGGCGACCCCGCTTCTCCAGCCCTGAGT       c.1740
 A  E  T  S  Q  Q  E  A  S  E  G  G  D  P  A  S  P  A  L  S         p.580

          .         .         .         .         .         .       g.47810
 CTTTCATCTTTAAGGAGTGACGACCTGCAGGCAGAGACGCAAGGACAGGGCACCGAGCAG       c.1800
 L  S  S  L  R  S  D  D  L  Q  A  E  T  Q  G  Q  G  T  E  Q         p.600

          .         .         .         .         .         .       g.47870
 GCCACGGGAGCGGCTGTGACAAGGGAGCCTCTGGTTCTGGGCCTTTCCTGCTCCTGGGAC       c.1860
 A  T  G  A  A  V  T  R  E  P  L  V  L  G  L  S  C  S  W  D         p.620

          .         .         .         .         .         .       g.47930
 TCGGAAGGAGCCTCTTCCACCCCTTCCACCTGCACTTCATCCCAGCAGGGGCAGAGAAGG       c.1920
 S  E  G  A  S  S  T  P  S  T  C  T  S  S  Q  Q  G  Q  R  R         p.640

          .         .         .         .         .         .       g.47990
 CACAGAAGCCGGGCCAGTGCAATGTCCTCACCCAGCAGCCCTGGCCTTGGCCGAGTGGCC       c.1980
 H  R  S  R  A  S  A  M  S  S  P  S  S  P  G  L  G  R  V  A         p.660

          .         .         .         .         .         .       g.48050
 CCGAGAGGCCATCCCAGGCATTCTCACTACCGCAAGGACACCCACAGCCCACTGGACTCC       c.2040
 P  R  G  H  P  R  H  S  H  Y  R  K  D  T  H  S  P  L  D  S         p.680

          .         .         .         .         .         .       g.48110
 TCTGTAACCAAGCAAGTGCCGAGGCCTCCTGAGCGGCGAAGGGCCTGCCAGGATGGCTCA       c.2100
 S  V  T  K  Q  V  P  R  P  P  E  R  R  R  A  C  Q  D  G  S         p.700

          .         .         .         .         .         .       g.48170
 GTGCCACGATATTCTGGAAGCTCATCGAGCACCAGGACACAGGCCTCTGGGAACCTGAGA       c.2160
 V  P  R  Y  S  G  S  S  S  S  T  R  T  Q  A  S  G  N  L  R         p.720

          .         .         .         .         .         .       g.48230
 CCTCCCTCCTCGGGCTCTCTTCCTTCCCAGGACCTTCTGGGAACCAGCAGTGCCACTGTC       c.2220
 P  P  S  S  G  S  L  P  S  Q  D  L  L  G  T  S  S  A  T  V         p.740

          .         .         .         .         .         .       g.48290
 ACCCCTGCAGTCCACTCGGATTTTGTTTCTGGAGTCTCCCCGCACAACGCTCCCTCTGCC       c.2280
 T  P  A  V  H  S  D  F  V  S  G  V  S  P  H  N  A  P  S  A         p.760

          .         .         .         .         .         .       g.48350
 GGGTGGGCAGGGGACGCGGGGTCCAGGACATGCTCGCCGGCCCCCATACCTCCCCACACA       c.2340
 G  W  A  G  D  A  G  S  R  T  C  S  P  A  P  I  P  P  H  T         p.780

          .         .         .         .         .         .       g.48410
 TCCGACTCCTGCTCAAAATCTGGGGCTGCCAGCCTGGGGGAAGAGGCCAGGGACACGCCT       c.2400
 S  D  S  C  S  K  S  G  A  A  S  L  G  E  E  A  R  D  T  P         p.800

          .         .         .         .         .         .       g.48470
 CAGCCCTCCTCACCCTTGGTTCTGCAGGTTGGACGGCCTGAGCAAGGGGCGGTGGGCCCC       c.2460
 Q  P  S  S  P  L  V  L  Q  V  G  R  P  E  Q  G  A  V  G  P         p.820

          .         .         .         .         .         .       g.48530
 CACCGAAGCCACTGCTGCTCACAGCCTGGGACGCAGCCGGCCCAAGAGGCCCAGCGGGGA       c.2520
 H  R  S  H  C  C  S  Q  P  G  T  Q  P  A  Q  E  A  Q  R  G         p.840

          .         .         .         .         .         .       g.48590
 CCCTCCCCTGAGGCTAGCTGGCTGTGTGGCAGGTACTGTCCCACCCCGCCCAGGGGGCGG       c.2580
 P  S  P  E  A  S  W  L  C  G  R  Y  C  P  T  P  P  R  G  R         p.860

          .         .         .         .         .         .       g.48650
 CCCTGCCCCCAGAGGCGCTCTTCCAGCTGTGGGAGCACCGGCAGCAGCCACCAAAGCACT       c.2640
 P  C  P  Q  R  R  S  S  S  C  G  S  T  G  S  S  H  Q  S  T         p.880

          .         .         .         .         .         .       g.48710
 GCCCGGGGGCCAGGTGGGAGCCCGCAGGAGGGGACACGCCAGCCAGGCCCCACGCCGTCC       c.2700
 A  R  G  P  G  G  S  P  Q  E  G  T  R  Q  P  G  P  T  P  S         p.900

          .         .         .         .         .         .       g.48770
 CCAGGCCCCAATTCAGGGGCATCAAGGAGAAGCAGTGCCAGCCAGGGTGCGGGGTCTCGG       c.2760
 P  G  P  N  S  G  A  S  R  R  S  S  A  S  Q  G  A  G  S  R         p.920

          .         .         .         .         .         .       g.48830
 GGGCTGTCCGAGGAGAAGACCTTGAGGAGTGGGGGAGGCCCCCAGGGGCAGGAGGAGGCC       c.2820
 G  L  S  E  E  K  T  L  R  S  G  G  G  P  Q  G  Q  E  E  A         p.940

          .         .         .         .         .         .       g.48890
 AGTGGTGTGTCACCCAGCTCTCTGCCCCGCTCGTCTCCAGAGGCTGTGGTCCGCGAATGG       c.2880
 S  G  V  S  P  S  S  L  P  R  S  S  P  E  A  V  V  R  E  W         p.960

          .         .         .         .         .         .       g.48950
 CTGGACAACATTCCAGAAGAGCCCATACTCATGACATATGAGTTGGCGGACGAGACCACA       c.2940
 L  D  N  I  P  E  E  P  I  L  M  T  Y  E  L  A  D  E  T  T         p.980

          .         .         .         .         .         .       g.49010
 GGTGCAGCTGGGGGTGGCCTGAGAGGCCCCGAGGTGGACCCTGGGGATGACCATTCTCTG       c.3000
 G  A  A  G  G  G  L  R  G  P  E  V  D  P  G  D  D  H  S  L         p.1000

          .         .         .         .         .         .       g.49070
 GAAGGCCTGGGGGAGCCAGCTCAGGCGGGACAGCAGTCCCTGGAAGGGGACCCCGGCCAG       c.3060
 E  G  L  G  E  P  A  Q  A  G  Q  Q  S  L  E  G  D  P  G  Q         p.1020

          .         .         .         .         .         .       g.49130
 GACCCAGAGCCAGAGGGAGCCCTCCTGGGGAGTAGTGACACTGGTCCCCAATCAGGAGAG       c.3120
 D  P  E  P  E  G  A  L  L  G  S  S  D  T  G  P  Q  S  G  E         p.1040

          .         .         .         .         .         .       g.49190
 GGTGTCCCCCAAGGGGCAGCTCCAGAGGGAGTTTCCGAGGCCCCTGCAGAGGCCGGAGCA       c.3180
 G  V  P  Q  G  A  A  P  E  G  V  S  E  A  P  A  E  A  G  A         p.1060

          .         .         .         .         .         .       g.49250
 GACAGAGAGGCCCCAGCAGGCTGCAGGGTGAGCCTGCGGGCACTTCCTGGCCGGGTGTCT       c.3240
 D  R  E  A  P  A  G  C  R  V  S  L  R  A  L  P  G  R  V  S         p.1080

          .         .         .         .         .         .       g.49310
 GCCTCCACGCAGATCATGAGGGCGCTGATGGGCTCCAAGCAGGGCCGGCCCAGCAGCGTG       c.3300
 A  S  T  Q  I  M  R  A  L  M  G  S  K  Q  G  R  P  S  S  V         p.1100

          .         .         .         .         .         .       g.49370
 CCCGAAGTGTCTAGGCCCATGGCCAGGAGGCTCAGCTGCTCAGCCGGGGCCCTCATTACT       c.3360
 P  E  V  S  R  P  M  A  R  R  L  S  C  S  A  G  A  L  I  T         p.1120

          .         .         .         .         .         .       g.49430
 TGTCTGGCCAGTCTGCAGTTATTTGAGGAAGACCTTGGGTCTCCTGCCAGCAAAGTGAGG       c.3420
 C  L  A  S  L  Q  L  F  E  E  D  L  G  S  P  A  S  K  V  R         p.1140

          .         .         .         .         .         .       g.49490
 TTCAAAGACTCCCCTCGGTACCAGGAGCTGCTCAGCATCTCGAAGGACCTGTGGCCAGGA       c.3480
 F  K  D  S  P  R  Y  Q  E  L  L  S  I  S  K  D  L  W  P  G         p.1160

          .         .         .         .         .         .       g.49550
 TGTGACGTTGGGGAAGACCAGCTGGACTCAGGCCTCTGGGAGCTCACATGGAGCCAGGCT       c.3540
 C  D  V  G  E  D  Q  L  D  S  G  L  W  E  L  T  W  S  Q  A         p.1180

          .         .         .         .         .         .       g.49610
 CTGCCAGACCTTGGGTCCCATGCCATGACGGAGAACTTCACGCCCACATCCTCCTCTGGT       c.3600
 L  P  D  L  G  S  H  A  M  T  E  N  F  T  P  T  S  S  S  G         p.1200

          .         .         .         .         .         .       g.49670
 GTGGACATCAGCAGCGGCTCTGGAGGCTCAGGGGAGAGTAGCGTACCCTGTGCCATGGAC       c.3660
 V  D  I  S  S  G  S  G  G  S  G  E  S  S  V  P  C  A  M  D         p.1220

          .         .         .         .         .         .       g.49730
 GGCACCCTGGTGACACAGGGGACAGAGCTGCCCCTGAAAACCTCCAACCAGAGGCCTGAT       c.3720
 G  T  L  V  T  Q  G  T  E  L  P  L  K  T  S  N  Q  R  P  D         p.1240

          .         .         .         .         .         .       g.49790
 TCAAGAACTTATGAGAGCCCAGGGGATCTGGAAAACCAACAGCAGTGTTGTTTCCCAACC       c.3780
 S  R  T  Y  E  S  P  G  D  L  E  N  Q  Q  Q  C  C  F  P  T         p.1260

          .         .         .         .         .         .       g.49850
 TTCTTGAACGCCCGAGCCTGCGCTTGTGCCACCAATGAGGATGAAGCAGAAAGAGACAGT       c.3840
 F  L  N  A  R  A  C  A  C  A  T  N  E  D  E  A  E  R  D  S         p.1280

          .         .         .         .         .         .       g.49910
 GAGGAGCAGAGGGCGAGCTCGAACCTGGAGCAGTTAGCTGAAAACACAGTGCAAGAAGAG       c.3900
 E  E  Q  R  A  S  S  N  L  E  Q  L  A  E  N  T  V  Q  E  E         p.1300

          .         .         .         .         .         .       g.49970
 GTGCAATTAGAGGAAACTAAAGAAGGAACAGAAGGAGAAGGGCTGCAAGAAGAGGCGGTG       c.3960
 V  Q  L  E  E  T  K  E  G  T  E  G  E  G  L  Q  E  E  A  V         p.1320

          .         .         .         .         .         .       g.50030
 CAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAA       c.4020
 Q  L  E  E  T  K  T  E  E  G  L  Q  E  E  G  V  Q  L  E  E         p.1340

          .         .         .         .         .         .       g.50090
 ACTAAAGAAACAGAAGGAGAAGGACAGCAAGAAGAAGAGGCGCAGTTAGAGGAAATTGAA       c.4080
 T  K  E  T  E  G  E  G  Q  Q  E  E  E  A  Q  L  E  E  I  E         p.1360

          .         .         .         .         .         .       g.50150
 GAAACAGGAGGAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAGTTAAAGAAGGG       c.4140
 E  T  G  G  E  G  L  Q  E  E  G  V  Q  L  E  E  V  K  E  G         p.1380

          .         .         .         .         .         .       g.50210
 CCAGAAGGAGGACTGCAAGGAGAGGCTCTTGAAGAGGGTCTCAAAGAGGAAGGACTTCCA       c.4200
 P  E  G  G  L  Q  G  E  A  L  E  E  G  L  K  E  E  G  L  P         p.1400

          .         .         .         .         .         .       g.50270
 GAAGAAGGAAGCGTCCACGGGCAGGAATTGTCAGAGGCCAGCTCTCCGGATGGGAAAGGC       c.4260
 E  E  G  S  V  H  G  Q  E  L  S  E  A  S  S  P  D  G  K  G         p.1420

          .         .         .         .         .         .       g.50330
 TCCCAGGAAGATGACCCAGTCCAGGAGGAGGAAGCAGGAAGAGCCTCTGCCTCTGCAGAG       c.4320
 S  Q  E  D  D  P  V  Q  E  E  E  A  G  R  A  S  A  S  A  E         p.1440

          .         .         .         .         .         .       g.50390
 CCGTGCCCCGCAGAGGGCACAGAGGAACCCACAGAGCCCCCTAGTCATCTCAGCGAGACG       c.4380
 P  C  P  A  E  G  T  E  E  P  T  E  P  P  S  H  L  S  E  T         p.1460

          .         .         .         .         .         .       g.50450
 GACCCAAGTGCCAGCGAGAGGCAGAGTGGCTCCCAGCTTGAGCCTGGTTTGGAAAAGCCG       c.4440
 D  P  S  A  S  E  R  Q  S  G  S  Q  L  E  P  G  L  E  K  P         p.1480

          .         .         .         .         .         .       g.50510
 CCCGGAGCCACCATGATGGGCCAAGAGCACACGCAGGCCCAACCCACCCAGGGGGCTGCA       c.4500
 P  G  A  T  M  M  G  Q  E  H  T  Q  A  Q  P  T  Q  G  A  A         p.1500

          .         .         .         .         .         .       g.50570
 GAGAGGAGCTCTTCGGTGGCCTGCAGCGCGGCTCTGGACTGCGACCCCATCTGGGTGTCC       c.4560
 E  R  S  S  S  V  A  C  S  A  A  L  D  C  D  P  I  W  V  S         p.1520

          .         .         .         .         .         .       g.50630
 GTGTTACTGAAGAAGACGGAGAAGGCCTTCCTGGCCCACCTTGCCAGTGCGGTGGCTGAG       c.4620
 V  L  L  K  K  T  E  K  A  F  L  A  H  L  A  S  A  V  A  E         p.1540

          .         .         .         .         .         .       g.50690
 CTCCGAGCACGCTGGGGCCTGCAGGACAATGATCTGCTGGACCAGATGGCGGCCGAGCTG       c.4680
 L  R  A  R  W  G  L  Q  D  N  D  L  L  D  Q  M  A  A  E  L         p.1560

          .         .         .         .         .         .       g.50750
 CAGCAGGACGTGGCCCAACGCCTCCAGGACAGCACCAAGAGAGAGCTCCAGAAGCTCCAG       c.4740
 Q  Q  D  V  A  Q  R  L  Q  D  S  T  K  R  E  L  Q  K  L  Q         p.1580

          .         .         .         .         .         .       g.50810
 GGCCGGGCGGGTAGGATGGTGCTGGAGCCTCCAAGGGAGGCCCTCACCGGGGAGCTGCTC       c.4800
 G  R  A  G  R  M  V  L  E  P  P  R  E  A  L  T  G  E  L  L         p.1600

          .         .         .         .         .         .       g.50870
 CTGCAGACCCAGCAGCGCAGACACCGTCTCCGGGGCCTGCGAAACCTCTCGGCCTTCTCT       c.4860
 L  Q  T  Q  Q  R  R  H  R  L  R  G  L  R  N  L  S  A  F  S         p.1620

          .         .         .         .         .         .       g.50930
 GAGCGGACCCTGGGCCTGGGGCCCCTCTCCTTCACCCTGGAGGACGAGCCAGCCCTCAGC       c.4920
 E  R  T  L  G  L  G  P  L  S  F  T  L  E  D  E  P  A  L  S         p.1640

          .         .         .         .         .         .       g.50990
 ACAGCCCTGGGGAGCCAGCTGGGCGAGGAGGCGGAGGGGGAGGAGTTCTGTCCCTGCGAG       c.4980
 T  A  L  G  S  Q  L  G  E  E  A  E  G  E  E  F  C  P  C  E         p.1660

          .         .         .         .         .         .       g.51050
 GCCTGCGTGAGGAAGAAAGTGAGCCCTATGTCCCCCAAGGCCACAATGGGGGCAACCAGA       c.5040
 A  C  V  R  K  K  V  S  P  M  S  P  K  A  T  M  G  A  T  R         p.1680

          .         .         .         .         .         .       g.51110
 GGTCCCATCAAAGAGGCCTTTGACCTGCAGCAGATTCTGCAGAGGAAGAGGGGAGAACAC       c.5100
 G  P  I  K  E  A  F  D  L  Q  Q  I  L  Q  R  K  R  G  E  H         p.1700

          .         .         .         .         .         .       g.51170
 ACTGATGGGGAGGCAGCAGAGGTGGCCCCTGGCAAGACCCACACGGACCCCACGAGCACT       c.5160
 T  D  G  E  A  A  E  V  A  P  G  K  T  H  T  D  P  T  S  T         p.1720

          .         .         .         .         .         .       g.51230
 AGGACTGTCCAGGGAGCTGAGGGAGGGCTGGGGCCGGGGCTGAGCCAGGGGCCTGGAGTG       c.5220
 R  T  V  Q  G  A  E  G  G  L  G  P  G  L  S  Q  G  P  G  V         p.1740

          .         .         .         .         .         .       g.51290
 GACGAGGGTGAGGATGGCGAGGGGAGCCAGAGACTCAACAGAGACAAAGATCCCAAACTC       c.5280
 D  E  G  E  D  G  E  G  S  Q  R  L  N  R  D  K  D  P  K  L         p.1760

          .         .         .         .         .         .       g.51350
 GGGGAGGCAGAGGGAGATGCAATGGCTCAGGAGAGAGAAGGGAAAACCCACAACAGTGAA       c.5340
 G  E  A  E  G  D  A  M  A  Q  E  R  E  G  K  T  H  N  S  E         p.1780

          .         .         .         .         .         .       g.51410
 ACCAGTGCGGGCAGTGAGTTGGGGGAAGCTGAGCAGGAGGGAGAGGGCATAAGTGAAAGG       c.5400
 T  S  A  G  S  E  L  G  E  A  E  Q  E  G  E  G  I  S  E  R         p.1800

          .         .         .         .         .         .       g.51470
 GGAGAAACTGGGGGTCAAGGCTCTGGGCATGAGGACAACTTGCAGGGTGAAGCTGCGGCA       c.5460
 G  E  T  G  G  Q  G  S  G  H  E  D  N  L  Q  G  E  A  A  A         p.1820

          .         .         .         .         .         .       g.51530
 GGAGGTGACCAAGATCCAGGACAGAGTGATGGGGCCGAAGGCATAGAGGCCCCGGAGGCT       c.5520
 G  G  D  Q  D  P  G  Q  S  D  G  A  E  G  I  E  A  P  E  A         p.1840

          .         .         .         .         .         .       g.51590
 GAAGGGGAGGCCCAGCCAGAGTCAGAAGGTGTAGAGGCCCCAGAGGCAGAAGGGGATGCC       c.5580
 E  G  E  A  Q  P  E  S  E  G  V  E  A  P  E  A  E  G  D  A         p.1860

          .         .         .         .         .         .       g.51650
 CAGGAGGCTGAAGGGGAGGCCCAGCCAGAGTCAGAAGATGTAGAGGCCCCAGAGGCAGAA       c.5640
 Q  E  A  E  G  E  A  Q  P  E  S  E  D  V  E  A  P  E  A  E         p.1880

          .         .         .         .         .         .       g.51710
 GGAGAGGCCCAGCCAGAGTCAGAAGATGTAGAGACCCCAGAGGCAGAATGGGAGGTCCAG       c.5700
 G  E  A  Q  P  E  S  E  D  V  E  T  P  E  A  E  W  E  V  Q         p.1900

          .         .         .         .         .         .       g.51770
 CCAGAGTCAGAAGGTGCAGAAGCCCCGGAGGCAGAAAAGGAGGCCCAGCCAGAGACAGAA       c.5760
 P  E  S  E  G  A  E  A  P  E  A  E  K  E  A  Q  P  E  T  E         p.1920

          .         .         .         .         .         .       g.51830
 AGTGTAGAGGCCCTGGAGACTGAAGGGGAGGACGAGCCAGAGTCAGAAGGTGCAGAGGCC       c.5820
 S  V  E  A  L  E  T  E  G  E  D  E  P  E  S  E  G  A  E  A         p.1940

          .         .         .         .         .         .       g.51890
 CAAGAGGCAGAAGAGGCGGCCCAGGAGGCAGAAGGGCAGACCCAGCCAGAGTCAGAAGTT       c.5880
 Q  E  A  E  E  A  A  Q  E  A  E  G  Q  T  Q  P  E  S  E  V         p.1960

          .         .         .         .         .         .       g.51950
 ATAGAGTCCCAGGAGGCAGAAGAGGAAGCCCAGCCAGAGTCAGAAGATGTAGAGGCCCTG       c.5940
 I  E  S  Q  E  A  E  E  E  A  Q  P  E  S  E  D  V  E  A  L         p.1980

          .         .         .         .         .         .       g.52010
 GAGGTTGAAGTGGAGACCCAGGAGGCAGAAGGGGAGGCCCAGCCAGAGTCAGAAGATGTA       c.6000
 E  V  E  V  E  T  Q  E  A  E  G  E  A  Q  P  E  S  E  D  V         p.2000

          .         .         .         .         .         .       g.52070
 GAGGCCCCAGAGGCTGAAGGGGAGATGCAAGAGGCAGAAGAGGAGGCCCAGCCAGAGTCA       c.6060
 E  A  P  E  A  E  G  E  M  Q  E  A  E  E  E  A  Q  P  E  S         p.2020

          .         .         .         .         .         .       g.52130
 GACGGTGTAGAGGCCCAGCCAAAGTCAGAAGGTGAAGAGGCCCAGGAGGTTGAAGGGGAG       c.6120
 D  G  V  E  A  Q  P  K  S  E  G  E  E  A  Q  E  V  E  G  E         p.2040

          .         .         .         .         .         .       g.52190
 ACCCAGAAGACAGAAGGGGATGCCCAGCCAGAGTCAGACGGTGTAGAGGCCCCGGAGGCA       c.6180
 T  Q  K  T  E  G  D  A  Q  P  E  S  D  G  V  E  A  P  E  A         p.2060

          .         .         .         .         .         .       g.52250
 GAAGAGGAGGCACAGGAGGCTGAAGGGGAGGTCCAGGAGGCAGAAGGGGAGGCCCACCCA       c.6240
 E  E  E  A  Q  E  A  E  G  E  V  Q  E  A  E  G  E  A  H  P         p.2080

          .         .         .         .         .         .       g.52310
 GAGTCAGAAGATGTAGATGCCCAGGAGGCAGAAGGGGAGGCCCAGCCAGAATCAGAAGGT       c.6300
 E  S  E  D  V  D  A  Q  E  A  E  G  E  A  Q  P  E  S  E  G         p.2100

          .         .         .         .         .         .       g.52370
 GTAGAGGCCCCAGAGGCAGAAGGGGAGGCCCAGAAGGCAGAAGGTATAGAGGCCCCAGAG       c.6360
 V  E  A  P  E  A  E  G  E  A  Q  K  A  E  G  I  E  A  P  E         p.2120

          .         .         .         .         .         .       g.52430
 ACTGAAGGGGAGGCCCAGCCAGAGTCAGAAGGTATAGAGGCCCCAGAGGCTGAAGGGGAG       c.6420
 T  E  G  E  A  Q  P  E  S  E  G  I  E  A  P  E  A  E  G  E         p.2140

          .         .         .         .         .         .       g.52490
 GCCCAGCCTGAGTCAGAAGGTGTAGAGGCCCAGGATGCAGAAGGGGAGGCCCAGCCAGAG       c.6480
 A  Q  P  E  S  E  G  V  E  A  Q  D  A  E  G  E  A  Q  P  E         p.2160

          .         .         .         .         .         .       g.52550
 TCAGAAGGTATAGAGGCCCAGGAGGCTGAAGAGGAGGCCCAACCAGAGTTAGAAGGTGTA       c.6540
 S  E  G  I  E  A  Q  E  A  E  E  E  A  Q  P  E  L  E  G  V         p.2180

          .         .         .         .         .         .       g.52610
 GAGGCCCCAGAGGCAGAAGGGGAGGCCCAGCCAGAGTCAGAAGGTATAGAGGCCCCAGAG       c.6600
 E  A  P  E  A  E  G  E  A  Q  P  E  S  E  G  I  E  A  P  E         p.2200

          .         .         .         .         .         .       g.52670
 GCAGAAGGGGAGGCCCAACCAGAGTTAGAAGGTGTAGAGGCCCCGGAGGCTGAAGAGGAG       c.6660
 A  E  G  E  A  Q  P  E  L  E  G  V  E  A  P  E  A  E  E  E         p.2220

          .         .         .         .         .         .       g.52730
 GCCCAGCCAGAGCCAGAAGGCGTAGAGACCCCGGAGGCTGAAGGGGAGGCCCAGCCAGAG       c.6720
 A  Q  P  E  P  E  G  V  E  T  P  E  A  E  G  E  A  Q  P  E         p.2240

          .         .         .         .         .         .       g.52790
 TCAGAAGGAGAAACTCAAGGTGAGAAAAAGGGGAGCCCTCAGGTCAGTCTAGGAGATGGC       c.6780
 S  E  G  E  T  Q  G  E  K  K  G  S  P  Q  V  S  L  G  D  G         p.2260

          .         .         .         .         .         .       g.52850
 CAATCTGAGGAGGCTTCTGAAAGCAGCAGCCCAGTCCCTGAGGACAGGCCCACTCCACCC       c.6840
 Q  S  E  E  A  S  E  S  S  S  P  V  P  E  D  R  P  T  P  P         p.2280

          .         .         .         .         .         .       g.52910
 CCTTCCCCAGGTGGAGACACTCCCCACCAAAGGCCAGGCTCCCAAACAGGCCCTTCCTCC       c.6900
 P  S  P  G  G  D  T  P  H  Q  R  P  G  S  Q  T  G  P  S  S         p.2300

          .         .         .         .         .         .       g.52970
 TCCAGAGCATCCTCTTGGGGCAACTGCTGGCAGAAAGACTCAGAAAATGACCATGTACTT       c.6960
 S  R  A  S  S  W  G  N  C  W  Q  K  D  S  E  N  D  H  V  L         p.2320

          .         .         .         .         .         .       g.53030
 GGAGACACAAGGAGCCCTGATGCCAAGTCCACGGGGACCCCTCATGCAGAGAGGAAGGCC       c.7020
 G  D  T  R  S  P  D  A  K  S  T  G  T  P  H  A  E  R  K  A         p.2340

          .         .         .         .         .         .       g.53090
 ACCAGGATGTACCCAGAAAGTTCTACTTCTGAGCAAGAAGAGGCCCCTTTGGGCTCAAGG       c.7080
 T  R  M  Y  P  E  S  S  T  S  E  Q  E  E  A  P  L  G  S  R         p.2360

          .         .         .         .         .         .       g.53150
 ACTCCAGAGCAGGGGGCCAGTGAAGGTTATGACCTACAAGAGGACCAGGCACTCGGAAGT       c.7140
 T  P  E  Q  G  A  S  E  G  Y  D  L  Q  E  D  Q  A  L  G  S         p.2380

          .         .         .         .         .         .       g.53210
 CTCGCCCCCACTGAGGCAGTGGGCAGGGCAGACGGCTTTGGCCAAGATGACTTAGATTTC       c.7200
 L  A  P  T  E  A  V  G  R  A  D  G  F  G  Q  D  D  L  D  F         p.2400

                                                                    g.53213
 TAG                                                                c.7203
 X                                                                  p.2400

          .         .         .         .         .         .       g.53273
 acaagatcaagctagaaaacaatcacgagcttgggagctctgtttttattcatatttttt       c.*60

          .         .         .         .         .         .       g.53333
 ctacaaaactgagcaacgttcagtccactggagatgtccatagtacatggacaaagacca       c.*120

          .         .         .         .         .         .       g.53393
 aggacttgccaaggacacagcccatgccatgctgtcctgggactcttaagtccagaagtg       c.*180

          .         .         .         .         .         .       g.53453
 tcagagagctctgcggcccgtcccacacgcagtgtgaagaaagggggtgtctgcggatct       c.*240

          .         .         .         .         .         .       g.53513
 gcccggttatcggaggtcagcccggctcctatttatttgtctgcagagcccgaaagatgg       c.*300

          .         .         .         .         .         .       g.53573
 aactgattggaaaggctccagtttagcttttgtttgtgggtttgttttctgctagcaagt       c.*360

          .         .         .         .         .         .       g.53633
 gttgctctctgtcttttccctgttgatctcctgttacttttctccttggcttctgttggc       c.*420

          .         .         .         .         .         .       g.53693
 actcacctcatttgactttgaggtgctttttttctagtcttgaatatatttgatgactct       c.*480

          .         .         .         .         .         .       g.53753
 gcagaaatacttgggcaaagcaggtaacttcagagtcattggataaagtttgttctcaac       c.*540

                                                                    g.53759
 tccaaa                                                             c.*546

 (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-like 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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