protocadherin 19 (PCDH19) - coding DNA reference sequence

(used for variant description)

(last modified February 20, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_001184880.1 in the PCDH19 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_021319.1, covering PCDH19 transcript NM_001184880.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5056
     agtagtttgcggcatccggaggagcagcagcagcagtagcggcggcggctggcgca       c.-1621

 .         .         .         .         .         .                g.5116
 gcgcggagacggacgagcgggcacagacggcagcacagctcccgtgcaccatgcctggct       c.-1561

 .         .         .         .         .         .                g.5176
 tgcccgggaggcactggcacccgcgtccctagcccggcgctggcccttggcgcgttgcgc       c.-1501

 .         .         .         .         .         .                g.5236
 tccgcagcattccggctgagcgatttcatccgaaatcctaaacctcctaccccaaaccca       c.-1441

 .         .         .         .         .         .                g.5296
 ttgcctcctgcttgctcatactccacactcacactccccacaccacacactcactcttcc       c.-1381

 .         .         .         .         .         .                g.5356
 tctctctctcacacattcacacacagcccgagacagacagagaaagcgagacagacctcc       c.-1321

 .         .         .         .         .         .                g.5416
 cgagtgcgcgagcgcccgggaggaagggagcccaacgcagcgcggccagcgcctctccgg       c.-1261

 .         .         .         .         .         .                g.5476
 gaagatgaaatcaagacgctcctgcaagtaaacttcggcggcgacaaaatcgtcgactgt       c.-1201

 .         .         .         .         .         .                g.5536
 ggcagctgctgaggcggaccccagcgacgtgcaactgagctaggagggcttcctcccgcg       c.-1141

 .         .         .         .         .         .                g.5596
 gcggcggcggcggcggcggcggcggcggaccttggagcgacaccccagcccaaacggaga       c.-1081

 .         .         .         .         .         .                g.5656
 gaagagaagcacccggtacccacggcggcggccccgcctctcctggccggtactgttgtt       c.-1021

 .         .         .         .         .         .                g.5716
 gcctccccttccctcttccccattccccgccacccccggccattagaaagaccggggctt       c.-961

 .         .         .         .         .         .                g.5776
 tgattttcttggacaaattgccatctccccgtttccacaaacttgacgtggagggtcgga       c.-901

 .         .         .         .         .         .                g.5836
 ctgcgttgttaactttgatttcctagacgaaaacgcccgcagaccctcaactgctctgtg       c.-841

 .         .         .         .         .         .                g.5896
 gggggaactccgctcccacctcggatcctggacagacgcgcccccaagcccttcgaagcc       c.-781

 .         .         .         .         .         .                g.5956
 agccttagcgcgagggagcgcgctcaagctctggcagcctctctcccctcccccttcctc       c.-721

 .         .         .         .         .         .                g.6016
 tgctggccccgggaccgccatccgactcaaccctataaccgggtgcccgcggcgcttgcc       c.-661

 .         .         .         .         .         .                g.6076
 agtaactgactcccgtctgcgacaccccctttctcccgaacaggcctcgaagaggccagt       c.-601

 .         .         .         .         .         .                g.6136
 gtggcccccccagaccccggagggcgcattccaagcgggtactctctccgcagtgaactg       c.-541

 .         .         .         .         .         .                g.6196
 ggagcgctggggggaggtctttgcgcatgccaggtgcacagacagcgagttcgccagcct       c.-481

 .         .         .         .         .         .                g.6256
 cagtgccggtgcaccgcggcgggccgggcagtgcctgaaaggctgcgcctcctccgccct       c.-421

 .         .         .         .         .         .                g.6316
 ctttaccttcgcctcaagtactgtccggactcagcggtgcgtcctccaggccgcgcagac       c.-361

 .         .         .         .         .         .                g.6376
 gccgcccgacccgcagccctgggcggctgccgacagtcgcgcccggctaactttgaaggg       c.-301

 .         .         .         .         .         .                g.6436
 gtaaaactgagtagccgggctggagggagggggctcggggccgcgcggcgctcccttggc       c.-241

 .         .         .         .         .         .                g.6496
 ccctcggagcccccggggcccccgcgagcccccgccgcgtccgccgcaacctcagcattg       c.-181

 .         .         .         .         .         .                g.6556
 gagccgccgcgggtgtcccccgcgcgccgccgggccgccctgggcgggacttctcccgcg       c.-121

 .         .         .         .         .         .                g.6616
 gcctccggggccacggggcgcgcgcaacaggcggcccgagccggcgggaagctggagcgc       c.-61

 .         .         .         .         .         .                g.6676
 cgacggcgtcggtctcggaggggtgtggagaggcgaggccaggcagagccccgtgcagcc       c.-1

          .         .         .         .         .         .       g.6736
 ATGGAGTCGCTCCTGCTGCCGGTGCTGCTGCTGCTGGCCATACTGTGGACGCAGGCTGCC       c.60
 M  E  S  L  L  L  P  V  L  L  L  L  A  I  L  W  T  Q  A  A         p.20

          .         .         .         .         .         .       g.6796
 GCCCTCATTAATCTCAAGTACTCGGTAGAAGAGGAGCAGCGCGCCGGGACGGTGATTGCC       c.120
 A  L  I  N  L  K  Y  S  V  E  E  E  Q  R  A  G  T  V  I  A         p.40

          .         .         .         .         .         .       g.6856
 AACGTGGCCAAAGACGCGCGAGAGGCGGGCTTCGCGCTGGACCCCCGGCAGGCTTCAGCC       c.180
 N  V  A  K  D  A  R  E  A  G  F  A  L  D  P  R  Q  A  S  A         p.60

          .         .         .         .         .         .       g.6916
 TTTCGCGTGGTGTCCAACTCGGCTCCACACCTAGTGGACATCAATCCCAGCTCTGGCCTG       c.240
 F  R  V  V  S  N  S  A  P  H  L  V  D  I  N  P  S  S  G  L         p.80

          .         .         .         .         .         .       g.6976
 CTGGTCACCAAGCAGAAGATTGACCGTGATCTGCTGTGCCGCCAGAGCCCCAAGTGCATC       c.300
 L  V  T  K  Q  K  I  D  R  D  L  L  C  R  Q  S  P  K  C  I         p.100

          .         .         .         .         .         .       g.7036
 ATCTCGCTCGAGGTCATGTCCAGCTCAATGGAAATCTGCGTGATAAAGGTGGAGATCAAG       c.360
 I  S  L  E  V  M  S  S  S  M  E  I  C  V  I  K  V  E  I  K         p.120

          .         .         .         .         .         .       g.7096
 GACCTGAACGACAATGCGCCCAGTTTCCCGGCAGCACAGATCGAGCTGGAGATCTCGGAG       c.420
 D  L  N  D  N  A  P  S  F  P  A  A  Q  I  E  L  E  I  S  E         p.140

          .         .         .         .         .         .       g.7156
 GCAGCCAGCCCTGGCACGCGCATCCCGCTGGACAGCGCTTACGATCCAGACTCAGGAAGC       c.480
 A  A  S  P  G  T  R  I  P  L  D  S  A  Y  D  P  D  S  G  S         p.160

          .         .         .         .         .         .       g.7216
 TTTGGCGTGCAGACTTACGAGCTCACGCCCAACGAGCTGTTCGGCCTGGAGATCAAGACG       c.540
 F  G  V  Q  T  Y  E  L  T  P  N  E  L  F  G  L  E  I  K  T         p.180

          .         .         .         .         .         .       g.7276
 CGCGGCGACGGCTCCCGCTTTGCCGAACTCGTGGTGGAAAAGAGCCTGGACCGCGAGACG       c.600
 R  G  D  G  S  R  F  A  E  L  V  V  E  K  S  L  D  R  E  T         p.200

          .         .         .         .         .         .       g.7336
 CAGTCGCACTACAGCTTCCGAATCACTGCGCTAGACGGTGGCGACCCGCCGCGCCTGGGC       c.660
 Q  S  H  Y  S  F  R  I  T  A  L  D  G  G  D  P  P  R  L  G         p.220

          .         .         .         .         .         .       g.7396
 ACCGTTGGCCTTAGTATCAAGGTGACCGACTCCAATGACAACAACCCGGTGTTTAGCGAG       c.720
 T  V  G  L  S  I  K  V  T  D  S  N  D  N  N  P  V  F  S  E         p.240

          .         .         .         .         .         .       g.7456
 TCCACCTACGCGGTGAGCGTGCCAGAAAACTCGCCTCCCAACACACCCGTCATCCGCCTC       c.780
 S  T  Y  A  V  S  V  P  E  N  S  P  P  N  T  P  V  I  R  L         p.260

          .         .         .         .         .         .       g.7516
 AACGCCAGCGATCCAGACGAGGGCACCAACGGCCAGGTGGTCTACTCCTTCTATGGCTAC       c.840
 N  A  S  D  P  D  E  G  T  N  G  Q  V  V  Y  S  F  Y  G  Y         p.280

          .         .         .         .         .         .       g.7576
 GTCAACGACCGCACGCGCGAGCTCTTTCAGATCGACCCGCACAGTGGCCTGGTCACTGTC       c.900
 V  N  D  R  T  R  E  L  F  Q  I  D  P  H  S  G  L  V  T  V         p.300

          .         .         .         .         .         .       g.7636
 ACTGGCGCTTTAGACTACGAAGAGGGGCACGTGTACGAACTGGACGTGCAGGCTAAGGAC       c.960
 T  G  A  L  D  Y  E  E  G  H  V  Y  E  L  D  V  Q  A  K  D         p.320

          .         .         .         .         .         .       g.7696
 TTGGGGCCCAATTCCATCCCGGCACACTGCAAGGTCACCGTCAGCGTGCTGGACACCAAT       c.1020
 L  G  P  N  S  I  P  A  H  C  K  V  T  V  S  V  L  D  T  N         p.340

          .         .         .         .         .         .       g.7756
 GACAATCCGCCGGTCATCAACCTGCTGTCAGTCAACAGTGAGCTTGTGGAGGTCAGCGAG       c.1080
 D  N  P  P  V  I  N  L  L  S  V  N  S  E  L  V  E  V  S  E         p.360

          .         .         .         .         .         .       g.7816
 AGCGCCCCCCCGGGCTACGTGATCGCCTTGGTGCGGGTGTCTGATCGCGACTCAGGCCTC       c.1140
 S  A  P  P  G  Y  V  I  A  L  V  R  V  S  D  R  D  S  G  L         p.380

          .         .         .         .         .         .       g.7876
 AATGGACGTGTGCAGTGCCGTTTGCTGGGCAATGTGCCCTTTCGACTGCAGGAATATGAG       c.1200
 N  G  R  V  Q  C  R  L  L  G  N  V  P  F  R  L  Q  E  Y  E         p.400

          .         .         .         .         .         .       g.7936
 AGCTTCTCCACTATTCTGGTGGACGGACGGCTGGACCGCGAGCAGCACGACCAATACAAC       c.1260
 S  F  S  T  I  L  V  D  G  R  L  D  R  E  Q  H  D  Q  Y  N         p.420

          .         .         .         .         .         .       g.7996
 CTCACAATTCAGGCACGCGACGGCGGCGTGCCCATGCTGCAGAGTGCCAAGTCCTTTACC       c.1320
 L  T  I  Q  A  R  D  G  G  V  P  M  L  Q  S  A  K  S  F  T         p.440

          .         .         .         .         .         .       g.8056
 GTGCTCATCACTGACGAAAATGACAACCACCCGCACTTTTCCAAGCCCTACTACCAGGTC       c.1380
 V  L  I  T  D  E  N  D  N  H  P  H  F  S  K  P  Y  Y  Q  V         p.460

          .         .         .         .         .         .       g.8116
 ATTGTGCAGGAGAACAACACGCCTGGCGCCTATCTGCTCTCTGTGTCTGCTCGCGACCCC       c.1440
 I  V  Q  E  N  N  T  P  G  A  Y  L  L  S  V  S  A  R  D  P         p.480

          .         .         .         .         .         .       g.8176
 GACCTGGGTCTCAACGGCAGTGTCTCCTACCAGATCGTGCCGTCGCAGGTGCGGGACATG       c.1500
 D  L  G  L  N  G  S  V  S  Y  Q  I  V  P  S  Q  V  R  D  M         p.500

          .         .         .         .         .         .       g.8236
 CCTGTCTTCACCTATGTCTCCATCAATCCCAACTCAGGCGACATCTACGCGCTGCGATCC       c.1560
 P  V  F  T  Y  V  S  I  N  P  N  S  G  D  I  Y  A  L  R  S         p.520

          .         .         .         .         .         .       g.8296
 TTTAACCACGAGCAGACCAAGGCGTTCGAATTCAAGGTGCTGGCCAAGGACGGCGGCCTT       c.1620
 F  N  H  E  Q  T  K  A  F  E  F  K  V  L  A  K  D  G  G  L         p.540

          .         .         .         .         .         .       g.8356
 CCCTCACTGCAAAGCAACGCTACGGTGCGGGTCATCATCCTCGACGTCAACGACAACACC       c.1680
 P  S  L  Q  S  N  A  T  V  R  V  I  I  L  D  V  N  D  N  T         p.560

          .         .         .         .         .         .       g.8416
 CCGGTCATCACAGCCCCACCTCTGATTAACGGCACTGCCGAGGTCTACATACCCCGCAAC       c.1740
 P  V  I  T  A  P  P  L  I  N  G  T  A  E  V  Y  I  P  R  N         p.580

          .         .         .         .         .         .       g.8476
 TCTGGCATAGGCTACCTGGTGACTGTTGTCAAGGCAGAAGACTACGATGAGGGCGAAAAT       c.1800
 S  G  I  G  Y  L  V  T  V  V  K  A  E  D  Y  D  E  G  E  N         p.600

          .         .         .         .         .         .       g.8536
 GGCCGAGTCACCTACGACATGACCGAGGGCGACCGCGGCTTCTTTGAAATAGACCAGGTC       c.1860
 G  R  V  T  Y  D  M  T  E  G  D  R  G  F  F  E  I  D  Q  V         p.620

          .         .         .         .         .         .       g.8596
 AATGGCGAAGTCAGAACCACCCGCACCTTCGGGGAGAGCTCCAAGTCCTCCTATGAGCTT       c.1920
 N  G  E  V  R  T  T  R  T  F  G  E  S  S  K  S  S  Y  E  L         p.640

          .         .         .         .         .         .       g.8656
 ATCGTGGTGGCTCACGACCACGGCAAGACATCTCTCTCTGCCTCTGCTCTCGTCCTAATC       c.1980
 I  V  V  A  H  D  H  G  K  T  S  L  S  A  S  A  L  V  L  I         p.660

          .         .         .         .         .         .       g.8716
 TACTTGTCCCCTGCTCTCGATGCCCAAGAGTCAATGGGCTCTGTGAACTTGTCCTTGATT       c.2040
 Y  L  S  P  A  L  D  A  Q  E  S  M  G  S  V  N  L  S  L  I         p.680

          .         .         .         .         .         .       g.8776
 TTCATTATTGCCCTGGGCTCCATTGCGGGCATCCTCTTTGTAACTATGATCTTCGTGGCA       c.2100
 F  I  I  A  L  G  S  I  A  G  I  L  F  V  T  M  I  F  V  A         p.700

          .         .         .         .        | 02.         .    g.11622
 ATCAAGTGCAAGCGAGACAACAAAGAGATCCGGACCTACAACTGCAG | TAATTGTTTAACC    c.2160
 I  K  C  K  R  D  N  K  E  I  R  T  Y  N  C  S  |  N  C  L  T      p.720

          .         .         .         .         .         .       g.11682
 ATCACTTGTCTCCTCGGCTGTTTTATAAAAGGACAAAACAGCAAGTGTCTGCATTGCATC       c.2220
 I  T  C  L  L  G  C  F  I  K  G  Q  N  S  K  C  L  H  C  I         p.740

          .         .         .         .         .         .       g.11742
 TCGGTTTCTCCCATTAGCGAGGAGCAAGACAAAAAGACAGAGGAGAAAGTGAGCCTAAGG       c.2280
 S  V  S  P  I  S  E  E  Q  D  K  K  T  E  E  K  V  S  L  R         p.760

          | 03         .         .         .         .         .    g.12474
 GGAAAGAG | AATTGCTGAGTACTCCTATGGGCATCAAAAGAAATCAAGCAAGAAGAAAAAA    c.2340
 G  K  R  |  I  A  E  Y  S  Y  G  H  Q  K  K  S  S  K  K  K  K      p.780

          .         .         .         .         .         .       g.12534
 ATCAGTAAGAATGACATCCGCCTGGTACCCCGGGATGTGGAGGAGACAGACAAGATGAAC       c.2400
 I  S  K  N  D  I  R  L  V  P  R  D  V  E  E  T  D  K  M  N         p.800

          .         .         .         .         .         .       g.12594
 GTTGTCAGTTGCTCTTCCCTGACCTCCTCCCTCAACTATTTTGACTACCACCAGCAGACG       c.2460
 V  V  S  C  S  S  L  T  S  S  L  N  Y  F  D  Y  H  Q  Q  T         p.820

          .         .         .         .         .         .       g.12654
 CTGCCCCTGGGCTGCCGCCGCTCTGAGAGCACTTTCCTGAATGTGGAGAACCAGAATACC       c.2520
 L  P  L  G  C  R  R  S  E  S  T  F  L  N  V  E  N  Q  N  T         p.840

          .         .         .         .         .         .       g.12714
 CGCAACACCAGTGCTAACCACATCTACCATCACTCTTTCAACAGCCAGGGGCCCCAGCAG       c.2580
 R  N  T  S  A  N  H  I  Y  H  H  S  F  N  S  Q  G  P  Q  Q         p.860

          .         .         .       | 04 .         .         .    g.64593
 CCTGACCTGATTATCAACGGTGTGCCTCTGCCTGAG | ACTGAAAACTATTCTTTTGACTCC    c.2640
 P  D  L  I  I  N  G  V  P  L  P  E   | T  E  N  Y  S  F  D  S      p.880

          .         .         .      | 05  .         .         .    g.73223
 AACTACGTGAATAGCCGAGCCCATTTAATCAAGAG | CAGCTCCACCTTCAAGGACTTAGAG    c.2700
 N  Y  V  N  S  R  A  H  L  I  K  S  |  S  S  T  F  K  D  L  E      p.900

          .         .         .         .         .         .       g.73283
 GGCAACAGCCTGAAGGATAGTGGACATGAGGAGAGTGACCAAACTGACAGTGAGCATGAT       c.2760
 G  N  S  L  K  D  S  G  H  E  E  S  D  Q  T  D  S  E  H  D         p.920

          .         .         .         .         .         .       g.73343
 GTCCAGCGGAGCCTGTATTGTGATACTGCTGTCAACGATGTGCTGAACACCAGTGTGACC       c.2820
 V  Q  R  S  L  Y  C  D  T  A  V  N  D  V  L  N  T  S  V  T         p.940

          .         .         | 06         .         .         .    g.118430
 TCCATGGGATCTCAGATGCCTGATCATG | ATCAGAATGAAGGATTTCATTGCCGGGAAGAA    c.2880
 S  M  G  S  Q  M  P  D  H  D |   Q  N  E  G  F  H  C  R  E  E      p.960

          .         .         .         .         .         .       g.118490
 TGCCGGATTCTTGGCCACTCTGACAGGTGCTGGATGCCCCGGAACCCCATGCCCATCCGT       c.2940
 C  R  I  L  G  H  S  D  R  C  W  M  P  R  N  P  M  P  I  R         p.980

          .         .         .         .         .         .       g.118550
 TCCAAGTCCCCTGAGCATGTGAGGAACATCATCGCGCTGTCTATTGAAGCTACTGCTGCT       c.3000
 S  K  S  P  E  H  V  R  N  I  I  A  L  S  I  E  A  T  A  A         p.1000

          .         .         .         .         .         .       g.118610
 GATGTCGAGGCTTATGACGACTGCGGCCCCACCAAACGGACTTTCGCAACCTTTGGGAAA       c.3060
 D  V  E  A  Y  D  D  C  G  P  T  K  R  T  F  A  T  F  G  K         p.1020

          .         .         .         .         .         .       g.118670
 GATGTCAGCGACCACCCGGCTGAGGAGAGGCCTACCCTGAAAGGCAAGAGGACTGTCGAT       c.3120
 D  V  S  D  H  P  A  E  E  R  P  T  L  K  G  K  R  T  V  D         p.1040

          .         .         .         .         .         .       g.118730
 GTGACCATCTGCAGCCCCAAGGTCAACAGCGTTATCCGGGAGGCAGGCAATGGCTGTGAG       c.3180
 V  T  I  C  S  P  K  V  N  S  V  I  R  E  A  G  N  G  C  E         p.1060

          .         .         .         .         .         .       g.118790
 GCGATTAGCCCTGTCACCTCCCCCCTCCACCTCAAGAGCTCTCTGCCCACCAAGCCTTCC       c.3240
 A  I  S  P  V  T  S  P  L  H  L  K  S  S  L  P  T  K  P  S         p.1080

          .         .         .         .         .         .       g.118850
 GTGTCTTACACCATTGCCCTGGCTCCCCCAGCCCGTGATCTGGAGCAGTATGTCAACAAT       c.3300
 V  S  Y  T  I  A  L  A  P  P  A  R  D  L  E  Q  Y  V  N  N         p.1100

          .         .         .         .         .         .       g.118910
 GTCAACAATGGCCCTACTCGTCCCTCTGAAGCTGAGCCCCGTGGAGCTGATAGCGAGAAA       c.3360
 V  N  N  G  P  T  R  P  S  E  A  E  P  R  G  A  D  S  E  K         p.1120

          .         .         .         .         .         .       g.118970
 GTCATGCATGAGGTCAGCCCCATTCTGAAGGAAGGTCGCAACAAAGAGTCCCCTGGTGTG       c.3420
 V  M  H  E  V  S  P  I  L  K  E  G  R  N  K  E  S  P  G  V         p.1140

          .         .                                               g.118997
 AAGCGTCTGAAGGATATCGTTCTCTAA                                        c.3447
 K  R  L  K  D  I  V  L  X                                          p.1148

          .         .         .         .         .         .       g.119057
 accagtctccaggaagaagagaaagaaaccacactggctagtgaagaagcaggagcttct       c.*60

          .         .         .         .         .         .       g.119117
 tgttttaattgctcaccaatggttggttcttgagtggctatatttcagagcttttcctaa       c.*120

          .         .         .         .         .         .       g.119177
 atgtattgtttataggtgattatcattctgtgacagtcccttgtttcaacaggcagcagg       c.*180

          .         .         .         .         .         .       g.119237
 ggtgttcagttggagcaaattagctttggcttgagttgttcatggggccttgatgttggg       c.*240

          .         .         .         .         .         .       g.119297
 gaaacagagacaaattcagttgtgaaaagtattatgtattaagtgtttgaatttatatat       c.*300

          .         .         .         .         .         .       g.119357
 ttttctatgtcaaaattataatataaattaccattgtttgtggaggattacatttaaaaa       c.*360

          .         .         .         .         .         .       g.119417
 agcaaaaagtgaaaaaaaaaagctctggacacctttaataagctcgccactgttttttgt       c.*420

          .         .         .         .         .         .       g.119477
 agtgtagacaagttaatggtcatttattgtgtactattcattgattcagtgatgtgaaat       c.*480

          .         .         .         .         .         .       g.119537
 tgagcccccaaaaggttgtttctgaagctcgagtacttcccaatgccgctactttgctgt       c.*540

          .         .         .         .         .         .       g.119597
 ggacacccctgctttaaaaacccttttgctagctgtgctattgttgtatttgatattgca       c.*600

          .         .         .         .         .         .       g.119657
 aattgctatgtgtgtggtgatggcaaaaggcttttaaaagttggtgttttctttttctta       c.*660

          .         .         .         .         .         .       g.119717
 aaaaaataataaaactacagacaaaaacaaagtgcaaacaactgagacagcaaatgaatg       c.*720

          .         .         .         .         .         .       g.119777
 agcaacaccatgcatatagattgagtacttggagaatactcacgttttttaactcatgta       c.*780

          .         .         .         .         .         .       g.119837
 gtgattgctcaccactttgcaaagtatttttcctgcctttcagtggtctgcccaggtcca       c.*840

          .         .         .         .         .         .       g.119897
 tgatagatcattgcagaaagtcatttttggataggctgctatctaatttgcagttgtcag       c.*900

          .         .         .         .         .         .       g.119957
 aaatactgtgctgaaagttttatgacatccatcttttaaattttcaggccctgaacagga       c.*960

          .         .         .         .         .         .       g.120017
 aagttgctcctgaagttatgtttccaggcttagaaattccctctctccaatcatctaaaa       c.*1020

          .         .         .         .         .         .       g.120077
 ttgaagatgactgaatctattttaagatctaaattagcatctcttcagacacacacttcc       c.*1080

          .         .         .         .         .         .       g.120137
 tgattcagtgtttcccaatcatgattagaattagactgcaaagcacgtcatgggctggga       c.*1140

          .         .         .         .         .         .       g.120197
 ttgagaactccatgttgctctgtatcttaggcttatatacgtagggatagagtaagcagt       c.*1200

          .         .         .         .         .         .       g.120257
 acaaagtgtatattttggaaaagacaggtaacaggtaacagcatcgctaatccaattact       c.*1260

          .         .         .         .         .         .       g.120317
 gtgccttctaaacggagacactcagacacttgaactcatctttttatgactaatagtttt       c.*1320

          .         .         .         .         .         .       g.120377
 ttgattaaaaatgtgaacaagaaaatactaaaataaaaatcctttcgatttagccaactc       c.*1380

          .         .         .         .         .         .       g.120437
 tttttgctgtaggctaggaatacaccctttttaaattaacacactgtagatccttttttt       c.*1440

          .         .         .         .         .         .       g.120497
 ctgttttaacattcctctaactcccccatttatcttttgtctattaatattcactagcca       c.*1500

          .         .         .         .         .         .       g.120557
 acatagtatttttgcagcctaagagttcattatttaaaaataaactaaagaaatatgtca       c.*1560

          .         .         .         .         .         .       g.120617
 cctttgttctgccttggtcttaagagagttgtttctagagaaacaagttttatggttctg       c.*1620

          .         .         .         .         .         .       g.120677
 ttttcatttgtttcattttttgaaattcaggaatacacagagagaaggcctagaggttag       c.*1680

          .         .         .         .         .         .       g.120737
 agcactagaatgcaaaagaggatttattttcttaagtttaggtagataagtcagctcttt       c.*1740

          .         .         .         .         .         .       g.120797
 tgaatgttttacttatttttgcctgagttcctagctttacgcattactaggaatattttc       c.*1800

          .         .         .         .         .         .       g.120857
 ttttacaggagggagaagggttttgagggagggggtgggtaaggcagtagggatggggtt       c.*1860

          .         .         .         .         .         .       g.120917
 aggtaggggagaacatttctgaaaaagaacttataatgaagctacaaatccatccttatt       c.*1920

          .         .         .         .         .         .       g.120977
 tcttattcagtgctgaatactacctcatgcaaaatattggtgtggctgcaaatttccctc       c.*1980

          .         .         .         .         .         .       g.121037
 tgaagctgacacaattaaggatgaattaccataacatcttcatttttcctcatttcattg       c.*2040

          .         .         .         .         .         .       g.121097
 cctctcatacagttttctccctctgatttatttcattttggtagtggattttgaattaag       c.*2100

          .         .         .         .         .         .       g.121157
 tatttatttctctttgcaagtgactatttgattaacacattaaaaattttttaaaaattt       c.*2160

          .         .         .         .         .         .       g.121217
 cccctttaagttatgatggctgcctatagaatttagactgtttctcaccctgatccatcc       c.*2220

          .         .         .         .         .         .       g.121277
 tgatattatgttattagctacgatttcaaggtcactttgaagtcagacttcacagttttc       c.*2280

          .         .         .         .         .         .       g.121337
 tacaggtgtatttcttgctatgctcagtgggaaccagggagcagaaaagattgtggaaag       c.*2340

          .         .         .         .         .         .       g.121397
 tgggaacattaattgtcacgtggctgttgagccagagaggccactggctgccatgcctct       c.*2400

          .         .         .         .         .         .       g.121457
 taccagccaagttttaaatggttagagtggcattggcattgattttgcttttctcttggg       c.*2460

          .         .         .         .         .         .       g.121517
 ttttcttcatttcttttcataattcatcttcaagctatagatccatccttcttccctatc       c.*2520

          .         .         .         .         .         .       g.121577
 caaatactttgttctcagtgggcagtcagatttttttggcttccaaacctcactgagcat       c.*2580

          .         .         .         .         .         .       g.121637
 gttcagagaattcctctcattaaggaaatatttttccccacaattgtctgatgtatgagt       c.*2640

          .         .         .         .         .         .       g.121697
 cctctcagaagcacaagtgcatactaggaaggctttgtaaactggttttgtaggcaggct       c.*2700

          .         .         .         .         .         .       g.121757
 gtacctgcaaataggcattctgagcaaggatcctaaatttccctttggctcatgtccccc       c.*2760

          .         .         .         .         .         .       g.121817
 ccgccccaccccaccttctcctttttggcatgtctggtgaaaagctacaaggttcacagg       c.*2820

          .         .         .         .         .         .       g.121877
 gccaaatattctcccttttgttctctaaacatgttgcacacataaactcaagggagtgat       c.*2880

          .         .         .         .         .         .       g.121937
 ttcggttcctaagtcctagggagttctattccatttattctgatgtcccttttaaggagg       c.*2940

          .         .         .         .         .         .       g.121997
 agttggtgttgaagtgtgacatgctttaatgataactgctttggcaattccccagacagg       c.*3000

          .         .         .         .         .         .       g.122057
 tatacttcttcatccaaaattgcacctaaggtgttcatttagacaaaattgttcgcttag       c.*3060

          .         .         .         .         .         .       g.122117
 tgatccactgatctctaatcagaaatatttttaaaaaatacaatttagatctctgaaaat       c.*3120

          .         .         .         .         .         .       g.122177
 tggaaccactcaagagtatcatcttgatagtgttacttcagcatatgactgactgatttt       c.*3180

          .         .         .         .         .         .       g.122237
 atgaagggagtttagctgacttttccctgtagccctatcatattaaaaacaaaaagtggt       c.*3240

          .         .         .         .         .         .       g.122297
 ccacttgaagcagcaaggacaaagggcagtttagggagaggcagggtgaaggggatagct       c.*3300

          .         .         .         .         .         .       g.122357
 cgattgggcatccagagtggaaaaggattattattgtacataatagcagttctggctgga       c.*3360

          .         .         .         .         .         .       g.122417
 attccaatccactttctggggatcattttgatgttgaatgttcccccaaagcattctgac       c.*3420

          .         .         .         .         .         .       g.122477
 aagtttggtccacttggctctttaccccgggtaataagacccttattgactttgaaaaac       c.*3480

          .         .         .         .         .         .       g.122537
 tggcataaatgagcttaagaaatccattgtatacagtcctagtgtttgccttcttggtaa       c.*3540

          .         .         .         .         .         .       g.122597
 aattacatttaaggatgtcatttcatgagtcaaattgtatctgctgacactgaagtgtat       c.*3600

          .         .         .         .         .         .       g.122657
 tgagatgttgttctttagtttaagtatgtaacaaagtaatattcaaaggggatgtttggg       c.*3660

          .         .         .         .         .         .       g.122717
 ggtggggctgggaccgggtggctttatattgataatgaaatattccagagcaaaacacat       c.*3720

          .         .         .         .         .         .       g.122777
 tgtcctaatgaagttgttgcagctctcttcgttttcttgtgccgctggaattggcttgtg       c.*3780

          .         .         .         .         .         .       g.122837
 ggtcacttgttgtgcaaaagtgaattaatttcaaataggaatcatattgcttttgtgaaa       c.*3840

          .         .         .         .         .         .       g.122897
 caaagaaaatttaccaccttgtctgatacatagattggaaggcgctcttggtaaagaata       c.*3900

          .         .         .         .         .         .       g.122957
 acccacaaacacctgatcttgattggaaagcattgtaggtcattagggaaaactgatgat       c.*3960

          .         .         .         .         .         .       g.123017
 gctgactgttgctccagctgtgttggcaattcaagatgaccttgttactaactgaaagtt       c.*4020

          .         .         .         .         .         .       g.123077
 gctgtcaaccttagcaaacaaaccagctaacaccattacagcactggttaagtagatttt       c.*4080

          .         .         .         .         .         .       g.123137
 tactggcactggctggcgttcagctgaggaaggctaggatacagactttaatgaccaaga       c.*4140

          .         .         .         .         .         .       g.123197
 gccagactagctcgagctagaaatcagcaacaaatacctccttgtgctatttgaatgcta       c.*4200

          .         .         .         .         .         .       g.123257
 aggtattagttgcaataggcttacgccttcgctcctctagtgaggggaatgagcctgatg       c.*4260

          .         .         .         .         .         .       g.123317
 acactattactgtttacctgtcaaaccagggtggaaatttagagggatgcaagtacagta       c.*4320

          .         .         .         .         .         .       g.123377
 tgtctcattaagcagtctctgttgctgattatatgaagataaaattgttgtatatgctga       c.*4380

          .         .         .         .         .         .       g.123437
 tctgtatgttatgtacattttcacagtgattgaatcattgtaaaaagaaaaaagacaaaa       c.*4440

          .         .         .         .         .         .       g.123497
 aagaatcaccactgtctattttatgaagatgataaagcagctttattaaattattacagt       c.*4500

          .         .         .         .         .         .       g.123557
 tatgtttcaaatggtgttatctgccacattgtttccttttatctggtggttctctgtttc       c.*4560

          .         .         .         .         .         .       g.123617
 cccctttaaatgtgttttctctgcttcaaaaatttaatgcattttagtattaaaggctat       c.*4620

          .                                                         g.123630
 tatggaaaaagta                                                      c.*4633

 (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 Protocadherin 19 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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