collagen, type IV, alpha 4 (COL4A4) - coding DNA reference sequence

(used for variant description)

(last modified February 15, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_000092.4 in the COL4A4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011592.1, covering COL4A4 transcript NM_000092.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5054
       aggctttttggttgtggcttcaagggagggaagacgtggctcaggtcccgccct       c.-601

 .         .         .         .         .         .                g.5114
 cataccccctccctcccaacttaccaggcagtgtcccttctacccgggcatcgtgcccag       c.-541

 .         .         .         .         .         .                g.5174
 gaggcgagaaagggctgggcgcctgaggggcaggtgggcgcggatccagggtaaggggtt       c.-481

 .         .         .         .         .         .                g.5234
 aaggaggtgatgctcccaaggtccgggggcccaggcggggaagtggggtgcggtcggagg       c.-421

 .         .         .         .         .         .                g.5294
 tggggcgtttgggggtgtgcggtggggaggtggctgcgcggtggggaggtggctgcgcag       c.-361

 .         .         .         .         .         .                g.5354
 ggtggagggagtggccagcggccctgcccagattaagcgggaggcgcgccgggcgtctgc       c.-301

 .         .         .         .         .         .                g.5414
 actcgggaggccccgcttgttccccgcgcccgcggcggtccgcgttccccgcctccagcc       c.-241

 .         .         .         .         .         .                g.5474
 cgcctccaacttgcggccgccgggcttggctgcgagagcgccgcgaagaggcagcggggc       c.-181

 .         .         .         .         .         .                g.5534
 gcgggtggattggggctggaggtgcgcgtcccgtggggtggcaaggcggcagctcctggc       c.-121

 .         .         | 02         .         .         .             g.22016
 gctgcgggcgtccccacag | gaacagactttgacccagaacacagaacctcacttgtcaac    c.-61

 .         .         .         .         .         .                g.22076
 aagaaccttctggaagagaagactggcagaatattttttaagtactaagacttgcctgcg       c.-1

          .         .         .         .         .         .       g.22136
 ATGTGGTCTCTGCACATAGTACTAATGAGGTGCTCCTTCAGATTGACCAAGTCCTTGGCC       c.60
 M  W  S  L  H  I  V  L  M  R  C  S  F  R  L  T  K  S  L  A         p.20

          .  | 03      .         .         .         .     | 04   . g.29327
 ACAGGTCCCTG | GTCACTTATACTCATTCTCTTTTCTGTACAATATGTATATGGG | AGTGGA c.120
 T  G  P  W  |  S  L  I  L  I  L  F  S  V  Q  Y  V  Y  G   | S  G   p.40

          .         .         .         .         .         .       g.29387
 AAGAAATACATTGGTCCTTGTGGAGGAAGAGATTGCTCTGTTTGCCACTGTGTTCCTGAA       c.180
 K  K  Y  I  G  P  C  G  G  R  D  C  S  V  C  H  C  V  P  E         p.60

          .   | 05     .         .         .         .         .    g.48459
 AAGGGGTCTCGG | GGTCCACCAGGACCACCAGGGCCACAGGGTCCAATTGGACCCCTGGGA    c.240
 K  G  S  R   | G  P  P  G  P  P  G  P  Q  G  P  I  G  P  L  G      p.80

          .         .         .         .         .         .       g.48519
 GCCCCAGGACCCATTGGGCTTTCAGGAGAGAAAGGAATGAGAGGGGACCGCGGCCCTCCT       c.300
 A  P  G  P  I  G  L  S  G  E  K  G  M  R  G  D  R  G  P  P         p.100

          .         .        | 06.         .         .         .    g.49653
 GGAGCAGCAGGGGACAAAGGAGATAAG | GGTCCAACTGGTGTTCCTGGATTTCCAGGTTTA    c.360
 G  A  A  G  D  K  G  D  K   | G  P  T  G  V  P  G  F  P  G  L      p.120

          .   | 07     .         .         .         .         .    g.50846
 GATGGCATACCT | GGGCACCCAGGGCCTCCTGGACCCAGAGGCAAACCTGGTATGAGTGGC    c.420
 D  G  I  P   | G  H  P  G  P  P  G  P  R  G  K  P  G  M  S  G      p.140

          .         .         .         .         .         .       g.50906
 CACAATGGCTCAAGAGGTGACCCAGGGTTTCCAGGAGGAAGAGGAGCTCTTGGCCCAGGA       c.480
 H  N  G  S  R  G  D  P  G  F  P  G  G  R  G  A  L  G  P  G         p.160

           | 08        .         .         .         .         .    g.54914
 GGCCCCCTA | GGCCATCCTGGGGAAAAGGGAGAAAAAGGAAATTCAGTGTTCATTTTAGGT    c.540
 G  P  L   | G  H  P  G  E  K  G  E  K  G  N  S  V  F  I  L  G      p.180

          .         | 09         .         .         .     | 10   . g.60279
 GCCGTTAAAGGTATTCAG | GGAGACAGAGGGGACCCAGGACTGCCTGGCTTACCA | GGATCT c.600
 A  V  K  G  I  Q   | G  D  R  G  D  P  G  L  P  G  L  P   | G  S   p.200

          .         .         .         .         .        | 11.    g.60694
 TGGGGTGCAGGAGGACCGGCAGGTCCCACAGGATATCCTGGAGAGCCAGGGTTAGTG | GGA    c.660
 W  G  A  G  G  P  A  G  P  T  G  Y  P  G  E  P  G  L  V   | G      p.220

          .         .         .    | 12    .         .         .    g.60964
 CCTCCGGGCCAACCAGGGCGTCCAGGTTTGAAG | GGAAATCCCGGTGTGGGAGTAAAGGGG    c.720
 P  P  G  Q  P  G  R  P  G  L  K   | G  N  P  G  V  G  V  K  G      p.240

          .      | 13  .         .         .         .         .    g.65552
 CAAATGGGAGACCCG | GGTGAGGTTGGTCAGCAAGGTTCTCCTGGACCCACCCTGTTGGTA    c.780
 Q  M  G  D  P   | G  E  V  G  Q  Q  G  S  P  G  P  T  L  L  V      p.260

          .         .         .       | 14 .         .         .    g.66386
 GAGCCACCTGACTTTTGTCTCTATAAAGGAGAAAAG | GGTATAAAAGGAATTCCTGGAATG    c.840
 E  P  P  D  F  C  L  Y  K  G  E  K   | G  I  K  G  I  P  G  M      p.280

          .         .         . | 15       .         .         .    g.66741
 GTTGGACTGCCAGGACCACCAGGACGCAAG | GGAGAATCTGGTATTGGGGCAAAAGGAGAA    c.900
 V  G  L  P  G  P  P  G  R  K   | G  E  S  G  I  G  A  K  G  E      p.300

          .         .         . | 16       .         .         .    g.67680
 AAAGGTATTCCTGGATTTCCAGGGCCTCGG | GGGGATCCTGGTTCCTATGGATCTCCAGGT    c.960
 K  G  I  P  G  F  P  G  P  R   | G  D  P  G  S  Y  G  S  P  G      p.320

          .      | 17  .         .         .         .         .    g.68047
 TTTCCAGGATTAAAG | GGAGAACTAGGACTGGTTGGAGATCCTGGGCTATTTGGATTAATT    c.1020
 F  P  G  L  K   | G  E  L  G  L  V  G  D  P  G  L  F  G  L  I      p.340

           | 18        .         .         .         .         .    g.69921
 GGCCCAAAG | GGGGATCCTGGAAATCGAGGGCACCCAGGACCACCAGGTGTTTTGGTGACT    c.1080
 G  P  K   | G  D  P  G  N  R  G  H  P  G  P  P  G  V  L  V  T      p.360

          .          | 19        .         .         .         .    g.70802
 CCACCTCTTCCACTCAAAG | GCCCACCAGGGGACCCAGGGTTCCCTGGCCGCTATGGAGAA    c.1140
 P  P  L  P  L  K  G |   P  P  G  D  P  G  F  P  G  R  Y  G  E      p.380

          .         .         .         .         .         .       g.70862
 ACAGGGGATGTTGGACCACCTGGTCCCCCAGGTCTCTTGGGCAGACCAGGGGAAGCCTGT       c.1200
 T  G  D  V  G  P  P  G  P  P  G  L  L  G  R  P  G  E  A  C         p.400

      | 20   .         .         .         .         .         .    g.75326
 GCAG | GCATGATAGGACCCCCTGGGCCACAAGGATTTCCTGGTCTTCCTGGGCTTCCAGGA    c.1260
 A  G |   M  I  G  P  P  G  P  Q  G  F  P  G  L  P  G  L  P  G      p.420

          .         .         .         .         .         .       g.75386
 GAAGCTGGTATTCCTGGGAGACCTGATTCTGCTCCAGGAAAACCAGGGAAGCCAGGATCA       c.1320
 E  A  G  I  P  G  R  P  D  S  A  P  G  K  P  G  K  P  G  S         p.440

          .         .         .         .          | 21        .    g.79613
 CCTGGCTTGCCTGGAGCACCAGGCCTGCAGGGCCTCCCAGGATCAAGTG | TGATATACTGT    c.1380
 P  G  L  P  G  A  P  G  L  Q  G  L  P  G  S  S  V |   I  Y  C      p.460

          .         .         .         .         .         .       g.79673
 AGTGTTGGGAACCCCGGACCACAAGGAATAAAAGGCAAAGTTGGTCCCCCAGGAGGAAGA       c.1440
 S  V  G  N  P  G  P  Q  G  I  K  G  K  V  G  P  P  G  G  R         p.480

          .          | 22        .         .         .         .    g.80784
 GGCCCAAAAGGAGAAAAAG | GAAATGAAGGACTCTGTGCCTGTGAGCCTGGACCCATGGGC    c.1500
 G  P  K  G  E  K  G |   N  E  G  L  C  A  C  E  P  G  P  M  G      p.500

          .         .         .         .         .         .       g.80844
 CCCCCTGGCCCTCCAGGACTTCCTGGGAGGCAGGGGAGTAAGGGAGACTTGGGGCTCCCT       c.1560
 P  P  G  P  P  G  L  P  G  R  Q  G  S  K  G  D  L  G  L  P         p.520

          .         .         .         .         .         .       g.80904
 GGCTGGCTTGGAACAAAAGGTGACCCAGGACCTCCTGGTGCTGAAGGACCTCCAGGGCTA       c.1620
 G  W  L  G  T  K  G  D  P  G  P  P  G  A  E  G  P  P  G  L         p.540

     | 23    .         .         .         .         .         .    g.87429
 CCA | GGAAAGCATGGTGCCTCTGGACCACCTGGCAACAAAGGGGCGAAGGGTGACATGGTT    c.1680
 P   | G  K  H  G  A  S  G  P  P  G  N  K  G  A  K  G  D  M  V      p.560

          .       | 24 .         .         .         .         .    g.89054
 GTATCAAGAGTTAAAG | GGCACAAAGGAGAAAGAGGTCCTGATGGGCCCCCAGGATTTCCA    c.1740
 V  S  R  V  K  G |   H  K  G  E  R  G  P  D  G  P  P  G  F  P      p.580

          .         .         .         .         .         .       g.89114
 GGGCAGCCAGGATCACATGGTCGGGATGGACATGCTGGAGAAAAAGGGGATCCAGGACCT       c.1800
 G  Q  P  G  S  H  G  R  D  G  H  A  G  E  K  G  D  P  G  P         p.600

     | 25    .         .         .         .         .         .    g.91539
 CCA | GGGGATCATGAAGATGCGACCCCAGGTGGTAAAGGATTTCCTGGACCTCTGGGCCCC    c.1860
 P   | G  D  H  E  D  A  T  P  G  G  K  G  F  P  G  P  L  G  P      p.620

          .         .         .         .         .         .       g.91599
 CCAGGCAAAGCAGGACCTGTGGGGCCCCCAGGACTGGGATTTCCTGGTCCACCAGGAGAG       c.1920
 P  G  K  A  G  P  V  G  P  P  G  L  G  F  P  G  P  P  G  E         p.640

          .         .         .         .         .         .       g.91659
 CGAGGCCACCCAGGAGTTCCAGGCCACCCAGGTGTGAGGGGCCCTGATGGCTTGAAGGGT       c.1980
 R  G  H  P  G  V  P  G  H  P  G  V  R  G  P  D  G  L  K  G         p.660

         | 26.         .         .         .         .         .    g.107014
 CAGAAAG | GTGACACAATTTCTTGCAACGTAACCTACCCTGGGAGGCATGGCCCTCCAGGT    c.2040
 Q  K  G |   D  T  I  S  C  N  V  T  Y  P  G  R  H  G  P  P  G      p.680

          .       | 27 .         .         .         .         .    g.109360
 TTTGATGGACCTCCAG | GTCCGAAGGGATTTCCAGGTCCCCAAGGTGCCCCTGGGCTGAGT    c.2100
 F  D  G  P  P  G |   P  K  G  F  P  G  P  Q  G  A  P  G  L  S      p.700

          .         .         .         .         .         .       g.109420
 GGTTCAGATGGGCATAAAGGCAGACCTGGCACACCAGGAACAGCGGAAATACCAGGTCCA       c.2160
 G  S  D  G  H  K  G  R  P  G  T  P  G  T  A  E  I  P  G  P         p.720

      | 28   .         .         .         .         .         .    g.109992
 CCTG | GTTTTCGTGGTGACATGGGAGATCCGGGTTTTGGAGGTGAAAAGGGGTCCTCCCCT    c.2220
 P  G |   F  R  G  D  M  G  D  P  G  F  G  G  E  K  G  S  S  P      p.740

          .         .         .         .         .         .       g.110052
 GTTGGGCCCCCAGGCCCTCCCGGCTCACCAGGAGTGAATGGTCAGAAAGGAATCCCGGGA       c.2280
 V  G  P  P  G  P  P  G  S  P  G  V  N  G  Q  K  G  I  P  G         p.760

          .         .         .         .         .         .       g.110112
 GACCCTGCATTTGGTCACCTGGGACCCCCGGGAAAGAGGGGTCTTTCAGGAGTGCCAGGG       c.2340
 D  P  A  F  G  H  L  G  P  P  G  K  R  G  L  S  G  V  P  G         p.780

          .         .         .         .    | 29    .         .    g.111976
 ATAAAAGGACCCAGAGGTGATCCGGGATGTCCAGGGGCTGAAG | GGCCAGCTGGCATTCCT    c.2400
 I  K  G  P  R  G  D  P  G  C  P  G  A  E  G |   P  A  G  I  P      p.800

          .         .         .         .         .         .       g.112036
 GGATTCCTAGGTCTCAAAGGTCCCAAAGGCAGAGAGGGACATGCTGGGTTTCCAGGTGTC       c.2460
 G  F  L  G  L  K  G  P  K  G  R  E  G  H  A  G  F  P  G  V         p.820

          .         .         .         .         .         .       g.112096
 CCAGGTCCACCTGGCCATTCCTGTGAAAGAGGTGCTCCAGGGATACCAGGGCAACCGGGA       c.2520
 P  G  P  P  G  H  S  C  E  R  G  A  P  G  I  P  G  Q  P  G         p.840

          .         .      | 30  .         .         .         .    g.113479
 CTCCCTGGGTATCCAGGTAGCCCAG | GTGCTCCAGGTGGGAAAGGACAGCCGGGAGATGTG    c.2580
 L  P  G  Y  P  G  S  P  G |   A  P  G  G  K  G  Q  P  G  D  V      p.860

          .         .         .         .         .         .       g.113539
 GGGCCTCCCGGGCCAGCTGGAATGAAAGGCCTCCCCGGACTCCCAGGACGGCCTGGGGCA       c.2640
 G  P  P  G  P  A  G  M  K  G  L  P  G  L  P  G  R  P  G  A         p.880

          .         .         .         .         .         .       g.113599
 CATGGTCCCCCAGGCCTCCCAGGAATCCCAGGTCCCTTTGGAGATGATGGGCTACCTGGT       c.2700
 H  G  P  P  G  L  P  G  I  P  G  P  F  G  D  D  G  L  P  G         p.900

          .       | 31 .         .         .         .         .    g.114866
 CCTCCAGGTCCAAAGG | GACCCCGGGGGCTGCCTGGTTTCCCAGGTTTTCCCGGAGAAAGA    c.2760
 P  P  G  P  K  G |   P  R  G  L  P  G  F  P  G  F  P  G  E  R      p.920

          .         .         .         .         .         .       g.114926
 GGAAAGCCTGGTGCAGAGGGATGTCCTGGCGCAAAGGGAGAACCTGGAGAGAAGGGCATG       c.2820
 G  K  P  G  A  E  G  C  P  G  A  K  G  E  P  G  E  K  G  M         p.940

          .         .         .         . | 32       .         .    g.117167
 TCTGGCCTTCCTGGAGACCGGGGACTGAGAGGGGCCAAAG | GAGCCATAGGACCTCCCGGA    c.2880
 S  G  L  P  G  D  R  G  L  R  G  A  K  G |   A  I  G  P  P  G      p.960

          .         .         .         .         .         .       g.117227
 GATGAAGGAGAAATGGCTATCATTTCACAAAAGGGAACACCTGGGGAACCTGGACCTCCT       c.2940
 D  E  G  E  M  A  I  I  S  Q  K  G  T  P  G  E  P  G  P  P         p.980

          .         .         | 33         .         .         .    g.118433
 GGAGATGATGGATTCCCAGGAGAAAGAG | GTGATAAAGGAACTCCCGGGATGCAAGGGAGA    c.3000
 G  D  D  G  F  P  G  E  R  G |   D  K  G  T  P  G  M  Q  G  R      p.1000

          .         .         .         .         .         .       g.118493
 AGAGGAGAGCCGGGAAGATACGGACCACCTGGATTTCACAGAGGGGAACCTGGTGAGAAA       c.3060
 R  G  E  P  G  R  Y  G  P  P  G  F  H  R  G  E  P  G  E  K         p.1020

          .         .         .         .         .         .       g.118553
 GGTCAGCCAGGGCCTCCTGGACCCCCAGGCCCTCCAGGCTCAACTGGTCTAAGAGGGTTC       c.3120
 G  Q  P  G  P  P  G  P  P  G  P  P  G  S  T  G  L  R  G  F         p.1040

          .         .         . | 34       .         .         .    g.119458
 ATTGGTTTTCCAGGACTTCCAGGTGACCAG | GGTGAGCCAGGTTCTCCAGGTCCCCCTGGA    c.3180
 I  G  F  P  G  L  P  G  D  Q   | G  E  P  G  S  P  G  P  P  G      p.1060

          .         .         .     | 35   .         .         .    g.122036
 TTTTCAGGAATTGATGGAGCAAGAGGACCTAAAG | GAAACAAAGGTGACCCTGCCAGTCAC    c.3240
 F  S  G  I  D  G  A  R  G  P  K  G |   N  K  G  D  P  A  S  H      p.1080

          .         .         .         .          | 36        .    g.126386
 TTTGGTCCACCTGGTCCAAAGGGTGAGCCAGGTAGCCCTGGATGTCCAG | GGCATTTTGGA    c.3300
 F  G  P  P  G  P  K  G  E  P  G  S  P  G  C  P  G |   H  F  G      p.1100

          .         .         .         .         .         .       g.126446
 GCATCCGGAGAGCAGGGCTTGCCTGGTATTCAAGGGCCCAGAGGATCACCTGGAAGGCCA       c.3360
 A  S  G  E  Q  G  L  P  G  I  Q  G  P  R  G  S  P  G  R  P         p.1120

          .         .         .        | 37.         .         .    g.127327
 GGGCCACCTGGCTCCTCTGGACCACCAGGGTGCCCAG | GTGATCACGGGATGCCTGGGCTG    c.3420
 G  P  P  G  S  S  G  P  P  G  C  P  G |   D  H  G  M  P  G  L      p.1140

          .         .         .         .         .         .       g.127387
 AGGGGACAGCCAGGAGAAATGGGAGACCCTGGGCCAAGAGGCCTCCAGGGGGATCCAGGG       c.3480
 R  G  Q  P  G  E  M  G  D  P  G  P  R  G  L  Q  G  D  P  G         p.1160

          .         .      | 38  .         .         .         .    g.136113
 ATACCAGGTCCTCCGGGAATAAAAG | GTCCCTCCGGATCACCTGGCCTGAACGGCTTGCAT    c.3540
 I  P  G  P  P  G  I  K  G |   P  S  G  S  P  G  L  N  G  L  H      p.1180

          .         .         .        | 39.         .         .    g.137306
 GGATTGAAAGGTCAGAAAGGAACTAAAGGTGCTTCAG | GTTTGCATGATGTGGGGCCACCT    c.3600
 G  L  K  G  Q  K  G  T  K  G  A  S  G |   L  H  D  V  G  P  P      p.1200

          .         .         .         .         .         .       g.137366
 GGTCCAGTGGGAATACCTGGGCTAAAAGGGGAGAGAGGAGACCCTGGGAGCCCAGGAATC       c.3660
 G  P  V  G  I  P  G  L  K  G  E  R  G  D  P  G  S  P  G  I         p.1220

          .         .         .         .       | 40 .         .    g.137518
 TCTCCTCCAGGTCCTCGTGGAAAGAAAGGTCCCCCAGGACCCCCAG | GGAGTTCAGGACCA    c.3720
 S  P  P  G  P  R  G  K  K  G  P  P  G  P  P  G |   S  S  G  P      p.1240

          .         .         .         .         .         .       g.137578
 CCTGGTCCTGCAGGTGCCACAGGAAGAGCTCCTAAGGACATTCCTGACCCGGGTCCACCT       c.3780
 P  G  P  A  G  A  T  G  R  A  P  K  D  I  P  D  P  G  P  P         p.1260

          .         .         .        | 41.         .         .    g.138984
 GGAGATCAGGGACCTCCTGGTCCTGATGGCCCAAGAG | GAGCACCTGGGCCTCCAGGCCTC    c.3840
 G  D  Q  G  P  P  G  P  D  G  P  R  G |   A  P  G  P  P  G  L      p.1280

          .         .         .         .         .         .       g.139044
 CCTGGGAGTGTTGACCTTCTGAGAGGGGAGCCAGGTGACTGTGGTCTACCAGGGCCACCA       c.3900
 P  G  S  V  D  L  L  R  G  E  P  G  D  C  G  L  P  G  P  P         p.1300

          .         .         .         .         .         .       g.139104
 GGTCCCCCTGGCCCACCAGGCCCTCCAGGATACAAAGGCTTTCCAGGATGTGATGGAAAA       c.3960
 G  P  P  G  P  P  G  P  P  G  Y  K  G  F  P  G  C  D  G  K         p.1320

          .    | 42    .         .         .         .         .    g.141597
 GATGGCCAGAAAG | GACCAGTGGGATTCCCGGGACCGCAGGGACCACATGGATTTCCTGGG    c.4020
 D  G  Q  K  G |   P  V  G  F  P  G  P  Q  G  P  H  G  F  P  G      p.1340

          .         .         .         .         .         .       g.141657
 CCACCTGGAGAGAAGGGTTTACCTGGACCTCCAGGGAGAAAAGGGCCCACTGGTCTTCCG       c.4080
 P  P  G  E  K  G  L  P  G  P  P  G  R  K  G  P  T  G  L  P         p.1360

   | 43      . | 44       .         .         .         .         . g.147436
 G | GTCCCAGAG | GTGAACCGGGGCCACCTGCAGATGTGGATGACTGTCCCCGAATCCCAGGC c.4140
 G |   P  R  G |   E  P  G  P  P  A  D  V  D  D  C  P  R  I  P  G   p.1380

          .         .         .         .         .         .       g.147496
 CTTCCTGGGGCGCCAGGCATGAGAGGACCAGAAGGAGCCATGGGGCTCCCTGGAATGAGA       c.4200
 L  P  G  A  P  G  M  R  G  P  E  G  A  M  G  L  P  G  M  R         p.1400

          .       | 45 .         .         .         .         .    g.157306
 GGCCCCTCAGGACCAG | GGTGCAAAGGAGAGCCTGGGCTGGATGGCAGGAGGGGTGTGGAT    c.4260
 G  P  S  G  P  G |   C  K  G  E  P  G  L  D  G  R  R  G  V  D      p.1420

          .         .         .         .         .         .       g.157366
 GGCGTCCCTGGGTCTCCTGGGCCTCCCGGACGTAAAGGTGACACAGGAGAAGACGGCTAC       c.4320
 G  V  P  G  S  P  G  P  P  G  R  K  G  D  T  G  E  D  G  Y         p.1440

          .    | 46    .         .         .         .         .    g.159105
 CCTGGAGGACCAG | GGCCTCCTGGTCCCATTGGGGATCCTGGGCCCAAAGGGTTTGGCCCT    c.4380
 P  G  G  P  G |   P  P  G  P  I  G  D  P  G  P  K  G  F  G  P      p.1460

          .         .         .         .         .         .       g.159165
 GGATACCTCGGTGGCTTCCTCCTGGTTCTCCACAGTCAGACGGACCAGGAGCCCACCTGC       c.4440
 G  Y  L  G  G  F  L  L  V  L  H  S  Q  T  D  Q  E  P  T  C         p.1480

          .         .         .         .         .         .       g.159225
 CCCCTGGGCATGCCCAGGCTCTGGACTGGGTATAGTCTGTTATACCTGGAAGGGCAAGAG       c.4500
 P  L  G  M  P  R  L  W  T  G  Y  S  L  L  Y  L  E  G  Q  E         p.1500

          .         .   | 47     .         .         .         .    g.161293
 AAAGCTCACAATCAAGACCTTG | GTCTGGCAGGGTCTTGCCTTCCCGTATTTAGCACGCTG    c.4560
 K  A  H  N  Q  D  L  G |   L  A  G  S  C  L  P  V  F  S  T  L      p.1520

          .         .         .         .         .         .       g.161353
 CCCTTTGCCTACTGCAACATCCACCAGGTGTGCCACTATGCCCAGAGAAACGACAGATCC       c.4620
 P  F  A  Y  C  N  I  H  Q  V  C  H  Y  A  Q  R  N  D  R  S         p.1540

          .         .         .         .         .         .       g.161413
 TACTGGCTGGCCAGCGCTGCGCCCCTCCCCATGATGCCACTCTCTGAAGAGGCGATCCGC       c.4680
 Y  W  L  A  S  A  A  P  L  P  M  M  P  L  S  E  E  A  I  R         p.1560

          .         .         .         .         .         .       g.161473
 CCCTATGTCAGCCGCTGTGCGGTATGCGAGGCCCCGGCCCAGGCGGTGGCGGTGCACAGC       c.4740
 P  Y  V  S  R  C  A  V  C  E  A  P  A  Q  A  V  A  V  H  S         p.1580

          .         .         .         .         .         .       g.161533
 CAGGACCAGTCCATCCCCCCATGTCCGCAGACCTGGAGGAGCCTCTGGATCGGGTATTCA       c.4800
 Q  D  Q  S  I  P  P  C  P  Q  T  W  R  S  L  W  I  G  Y  S         p.1600

           | 48        .         .         .         .         .    g.162022
 TTCCTGATG | CACACAGGAGCTGGGGACCAAGGAGGAGGGCAGGCCCTTATGTCACCTGGC    c.4860
 F  L  M   | H  T  G  A  G  D  Q  G  G  G  Q  A  L  M  S  P  G      p.1620

          .         .         .         .         .         .       g.162082
 AGCTGCCTGGAAGATTTCAGAGCAGCACCATTCCTTGAATGCCAGGGCCGGCAGGGAACT       c.4920
 S  C  L  E  D  F  R  A  A  P  F  L  E  C  Q  G  R  Q  G  T         p.1640

          .         .         .         .         .         .       g.162142
 TGCCACTTTTTCGCAAATAAGTATAGCTTCTGGCTCACAACGGTGAAAGCAGACTTGCAG       c.4980
 C  H  F  F  A  N  K  Y  S  F  W  L  T  T  V  K  A  D  L  Q         p.1660

          .         .         .         .         .         .       g.162202
 TTTTCCTCTGCTCCAGCACCAGACACCTTAAAAGAAAGCCAGGCCCAACGCCAGAAAATC       c.5040
 F  S  S  A  P  A  P  D  T  L  K  E  S  Q  A  Q  R  Q  K  I         p.1680

          .         .         .                                     g.162235
 AGCCGGTGCCAGGTCTGCGTGAAGTATAGCTAG                                  c.5073
 S  R  C  Q  V  C  V  K  Y  S  X                                    p.1690

          .         .         .         .         .         .       g.162295
 agaatgcgaaattcaccaacacgtggccaagagaaacttcctagggggctaagacttcct       c.*60

          .         .         .         .         .         .       g.162355
 agactgtgctaagagatgtcatggtgctcattttggactccctttcagtggttccttctg       c.*120

          .         .         .         .         .         .       g.162415
 ttttgtcgtggttattcccagagtcctctggttccttacacattaagcaaatgctgcaca       c.*180

          .         .         .         .         .         .       g.162475
 gatggatttgtttggacctcccaatctagggagcctagatactcttattttactgaggat       c.*240

          .         .         .         .         .         .       g.162535
 gatcgaagaactggctttacttaaaaatatgctaattctcagaaaggcaagtagatgata       c.*300

          .         .         .         .         .         .       g.162595
 aaggccagattacaaattacattactgaaaacttcattcttgggttaacagtatctcaaa       c.*360

          .         .         .         .         .         .       g.162655
 caattgaagtcaattactctataatacagtgggcttctggatggattttataggaaaaaa       c.*420

          .         .         .         .         .         .       g.162715
 taaacaggtcaatgaatgaaactagaaagcagagattttcaacatttcaaaatgatttcc       c.*480

          .         .         .         .         .         .       g.162775
 tctgtaatctatttttccatatactttaaataatggtaaaaccatgacgcaaagagagat       c.*540

          .         .         .         .         .         .       g.162835
 ttttttttaaagaagaaaaaaaaaaattcacactgccagcgttaacagttcctttcaaag       c.*600

          .         .         .         .         .         .       g.162895
 gagaatgaatcatgatggcaggaaggcccacagtcgccgtattccagagatgcgacatta       c.*660

          .         .         .         .         .         .       g.162955
 gcataaacacatcacagatgaatataaaacattatgttctcttctgcatttttcagagaa       c.*720

          .         .         .         .         .         .       g.163015
 tagaaatgcctactttggcaacccttttgaaaagtagcaattatggaaaaaaaatattca       c.*780

          .         .         .         .         .         .       g.163075
 ataagagattaggagcctaaaagctattagtgaatattaaggtagttattcacaaaaatt       c.*840

          .         .         .         .         .         .       g.163135
 gactccccattgcagtgaacttccagacagactgcttttccccagtcggggtccggcgtg       c.*900

          .         .         .         .         .         .       g.163195
 tcacaggtgcgtgcgtgctaatgggactgacgctacatggggctcactcaggcaggcacg       c.*960

          .         .         .         .         .         .       g.163255
 cgcttcatacaaagcatctcactcccctccccaggagagcctgcacagcttcttgcactc       c.*1020

          .         .         .         .         .         .       g.163315
 acaacggacactttgctccacacacataatggcagctcacacagggacgtgacagagcta       c.*1080

          .         .         .         .         .         .       g.163375
 tcattatgcacttgggagaaaattaagggccgatttaattaaacttaggtaagaagattc       c.*1140

          .         .         .         .         .         .       g.163435
 atttaagtcagggttaccccatcaggaggacatggcactatctttaaacgaaacaaagac       c.*1200

          .         .         .         .         .         .       g.163495
 aatttataatttgaattttatgctcccgtggttggctgttacaggagcatcccattttgc       c.*1260

          .         .         .         .         .         .       g.163555
 caattttaaagacattcttatatttcatatcagtcttgtaccaaggcaacagtttgacat       c.*1320

          .         .         .         .         .         .       g.163615
 ttggcattagtattttctaaaaaagtttagaatgtgtgtcaatttataatgattattttt       c.*1380

          .         .         .         .         .         .       g.163675
 ttctgtaaagcaaaagatccctttttctgttttgctaggaatttggtgatctaatcctaa       c.*1440

          .         .         .         .         .         .       g.163735
 atttaaaagatttgttggaaaaaatttttaggaaactcaccttcctcatctaaaagaaaa       c.*1500

          .         .         .         .         .         .       g.163795
 aggcattttagagaaaactaaagaaatttctcatgagcgtgacactcattttagtgcttt       c.*1560

          .         .         .         .         .         .       g.163855
 gtttccgtgcacttaaaaataattgagaagaaaaactcaattaaaattttgtttataaga       c.*1620

          .         .         .         .         .         .       g.163915
 aatgttttccttgccaaaccttgatttgtaatgagctcttatatgcagaacacatttcaa       c.*1680

          .         .         .         .         .         .       g.163975
 atgagttttgctatgggctgcccccagggtggcaatttattttaagagtattttctggta       c.*1740

          .         .         .         .         .         .       g.164035
 aaaagaaaaatgtgtattttaagatgaaatattttcttgatgtagcagaatatttcctag       c.*1800

          .         .         .         .         .         .       g.164095
 ttcatttgacccatttgatattttttaaaccatgctctggcatgttgaatatttttgtgc       c.*1860

          .         .         .         .         .         .       g.164155
 acctaaaacttaagccaatttcaatcttatttgtgattacctttctccttcccaaaaagc       c.*1920

          .         .         .         .         .         .       g.164215
 tttatctattaccaaaagtcaaccctcctaaaagttcaacctgttcatcttgaacttggc       c.*1980

          .         .         .         .         .         .       g.164275
 ctgagaacattttctgggaagaggtaagggtgacaaatggaacatcagaaacgtatcttg       c.*2040

          .         .         .         .         .         .       g.164335
 cttgctaattattttaaacactttaatgttggtattagaatattatcttcataagttaat       c.*2100

          .         .         .         .         .         .       g.164395
 aaataagtaaaaaaaaaaaacccacacaaagacaggctaaattatgtagacagtttactc       c.*2160

          .         .         .         .         .         .       g.164455
 cacagtgagcttgggaaggtatcagactgttcaaaatgttagtattacaagagctgtctc       c.*2220

          .         .         .         .         .         .       g.164515
 taaatgcagcattaacactgccctctaattttacaaaagtattttaaaggatcaaaaggg       c.*2280

          .         .         .         .         .         .       g.164575
 cggaaaaataacttcttggaatagaagatcctgttaccttaaaccattattttcttcacc       c.*2340

          .         .         .         .         .         .       g.164635
 tggttatatatcaatgtgccttcaattaccctttctctgtggaggtgatgaacaaagctt       c.*2400

          .         .         .         .         .         .       g.164695
 ttaagttgttctcctaacccattattggagatgatccttatcaaacccttctctccctgc       c.*2460

          .         .         .         .         .         .       g.164755
 ctccccaccaaccttgtagactggaacgtgcctagattgccctaatgggaactgttctgt       c.*2520

          .         .         .         .         .         .       g.164815
 tctgtgcccgtgctggaaatctgggatgcttccttctgggttctgattctcagtgagtgg       c.*2580

          .         .         .         .         .         .       g.164875
 agcccattcatccaggcaggtttccatgctatgagtggccctttcgttctgctctcacac       c.*2640

          .         .         .         .         .         .       g.164935
 tccccacattgaaagctgagtcatcgctgctttggatggctacctcctctttagccccgt       c.*2700

          .         .         .         .         .         .       g.164995
 gcccgtctcacacagcctttgttttccacctccacccttgcagtaggcatctcccagttg       c.*2760

          .         .         .         .         .         .       g.165055
 gtgccttagtttcaaatcccagttgccatctaagatccacccaaacttgattttgtcacc       c.*2820

          .         .         .         .         .         .       g.165115
 ctctggattagaatccttctgtgactccgctgcccatgaagtccaaatgacttcctatgg       c.*2880

          .         .         .         .         .         .       g.165175
 ggtgaaaggtccagtggggactgttcgagggttccctctaggagtatttcctgtcatgat       c.*2940

          .         .         .         .         .         .       g.165235
 gaactgtgtgcagctctgcagacactcccagcacctcttcgactttgctcctgcttcacc       c.*3000

          .         .         .         .         .         .       g.165295
 agtgatgtcctccctggggtcagtttaccctgcgtgggaggtgaattccctgggggaaac       c.*3060

          .         .         .         .         .         .       g.165355
 ttaggctcccttctgctgctcttgtgcagtgcacggggctgtcctcattttctccgttcc       c.*3120

          .         .         .         .         .         .       g.165415
 ccattgcttctttaatgtctcagtgcacttccttcattccattgccaaaatgcaagcccc       c.*3180

          .         .         .         .         .         .       g.165475
 ttgagggcagggaccatgcttgactcgtttttgtatgcctaatgcctagcacagagttga       c.*3240

          .         .         .         .         .         .       g.165535
 acacattactgccaattcatttttttcaatgacaattccataaacatcattaggcattag       c.*3300

          .         .         .         .         .         .       g.165595
 gtgttcagctctgcatataaggtcttcatcagcaagacggttacaagtataaaccatttc       c.*3360

          .         .         .         .         .         .       g.165655
 ctatttcagaatattttaatattcaacatatttgtatacccacattctcttgttacaatt       c.*3420

          .         .         .         .         .         .       g.165715
 attgccagaaagccaattgataagctttcaaaatgggcttatcacacccctccaaaaata       c.*3480

          .         .         .         .         .         .       g.165775
 gatttttgttttttctataaacagaaatttcagaaatgagatttgagagatccgactgag       c.*3540

          .         .         .         .         .         .       g.165835
 aagacccttcagtaaaatgtgacatgacttaccttatgctgtaatctgtattccctcagg       c.*3600

          .         .         .         .         .         .       g.165895
 atttaagagcttcctagcataaaatctttgctaaacgtttgtgtacatgttattggtgct       c.*3660

          .         .         .         .         .         .       g.165955
 ccgaaaaatagtcaatggaatggtgcactacaattgggctttatcatcttattttgaacc       c.*3720

          .         .         .         .         .         .       g.166015
 tcgtgtagattacagtaaagcaaaccattcagtgtgttccaggaaattatattagatctg       c.*3780

          .         .         .         .         .         .       g.166075
 tgtttctatcagctcactggaataatctgataattgttacttttacttggtatggctgca       c.*3840

          .         .         .         .         .         .       g.166135
 agaatagtggaaagaagaggacttgagagttggtcgaacccaggtttgaaatctggctta       c.*3900

          .         .         .         .         .         .       g.166195
 gtcatttttcagctgttatcctgggtgagttttgccaactttcttagcttcatttccctc       c.*3960

          .         .         .         .         .         .       g.166255
 attaatacggtgggacataacagctactcttgcattgaaaattaagttagattacctgtc       c.*4020

          .         .         .         .         .         .       g.166315
 tagcatacccatcatcatacacttactatggtcacattttgtatttaaaataaactaata       c.*4080

          .         .         .         .         .         .       g.166375
 cgaaaaatatttctttttttttacacagaattatgattctcacagggtatataaattact       c.*4140

          .         .         .         .         .         .       g.166435
 gattagaattatttatatgtggccaattcttaatgtcattgggaatgctgtttcatttca       c.*4200

          .         .         .         .         .         .       g.166495
 atcctcaaagttactgtagcacagaaaatatcacaatttcctgcagggacattatcagta       c.*4260

          .         .         .         .         .         .       g.166555
 agttctgcagggaacaaacaattgacattaaaaatcagtactctgcaattgtcactgtta       c.*4320

          .         .         .         .         .         .       g.166615
 tcatctgctagaaactctgcataatgcattttaaaccaccaaggctggctgccacatcca       c.*4380

          .         .         .         .         .         .       g.166675
 tgtgaaatgcttgaattttatggtgcttaaatatttaatgattcatgggaaaaatgtgaa       c.*4440

          .         .         .         .         .         .       g.166735
 atgtgtctaataaattgcatccctttctctaacctctggttgtaaagttaaagactttca       c.*4500

          .         .         .         .         .         .       g.166795
 gcatgtaacttttgcaagatgcctggtctgccattggcacttaaatatttgttgtattac       c.*4560

          .         .         .         .         .                 g.166849
 gatttataatatggttcattatatataaaattctgtgatgacttccaaaaacaa             c.*4614

 (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 Collagen, type IV, alpha 4 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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