SMAD family member 4 (SMAD4) - coding DNA reference sequence

(used for variant description)

(last modified September 9, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_005359.5 in the SMAD4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_013013.2, covering SMAD4 transcript NM_005359.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.67231
   atgctcagtggcttctcgacaagttggcagcaacaacacggccctggtcgtcgtcgcc       c.-481

 .         .         .         .         .         .                g.67291
 gctgcggtaacggagcggtttgggtggcggagcctgcgttcgcgccttcccgctctcctc       c.-421

 .         .         .         .         .         .                g.67351
 gggaggcccttcctgctctcccctaggctccgcggccgcccagggggtgggagcgggtga       c.-361

 .         .         .         .         .         .                g.67411
 ggggagccaggcgcccagcgagagaggccccccgccgcagggcggcccgggagctcgagg       c.-301

 .         .         .         .         .         .                g.67471
 cggtccggcccgcgcgggcagcggcgcggcgctgaggaggggcggcctggccgggacgcc       c.-241

 .         .         .         .         .         .                g.67531
 tcggggcgggggccgaggagctctccgggccgccggggaaagctacgggcccggtgcgtc       c.-181

 .         .         .         .         .         .   | 02         g.83887
 cgcggaccagcagcgcgggagagcggactcccctcgccaccgcccgagcccag | gttatcc    c.-121

 .         .         .         .         .         .                g.83947
 tgaatacatgtctaacaattttccttgcaacgttagctgttgtttttcactgtttccaaa       c.-61

 .         .         .         .         .         .                g.84007
 ggatcaaaattgcttcagaaattggagacatatttgatttaaaaggaaaaacttgaacaa       c.-1

          .         .         .         .         .         .       g.84067
 ATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTG       c.60
 M  D  N  M  S  I  T  N  T  P  T  S  N  D  A  C  L  S  I  V         p.20

          .         .         .         .         .         .       g.84127
 CATAGTTTGATGTGCCATAGACAAGGTGGAGAGAGTGAAACATTTGCAAAAAGAGCAATT       c.120
 H  S  L  M  C  H  R  Q  G  G  E  S  E  T  F  A  K  R  A  I         p.40

          .         .         .         .         .         .       g.84187
 GAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCT       c.180
 E  S  L  V  K  K  L  K  E  K  K  D  E  L  D  S  L  I  T  A         p.60

          .         .         .         .         .         .       g.84247
 ATAACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGG       c.240
 I  T  T  N  G  A  H  P  S  K  C  V  T  I  Q  R  T  L  D  G         p.80

           | 03        .         .         .         .         .    g.85697
 AGGCTTCAG | GTGGCTGGTCGGAAAGGATTTCCTCATGTGATCTATGCCCGTCTCTGGAGG    c.300
 R  L  Q   | V  A  G  R  K  G  F  P  H  V  I  Y  A  R  L  W  R      p.100

          .         .         .         .         .         .       g.85757
 TGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGAC       c.360
 W  P  D  L  H  K  N  E  L  K  H  V  K  Y  C  Q  Y  A  F  D         p.120

          .         .         .         .         .         .       g.85817
 TTAAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGA       c.420
 L  K  C  D  S  V  C  V  N  P  Y  H  Y  E  R  V  V  S  P  G         p.140

      | 04   .         .         .     | 05   .         .         . g.91767
 ATTG | ATCTCTCAGGATTAACACTGCAGAGTAATG | CTCCATCAAGTATGATGGTGAAGGAT c.480
 I  D |   L  S  G  L  T  L  Q  S  N  A |   P  S  S  M  M  V  K  D   p.160

          .         .         .         .         .         .       g.91827
 GAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAA       c.540
 E  Y  V  H  D  F  E  G  Q  P  S  L  S  T  E  G  H  S  I  Q         p.180

          .         .         .         .         .         .       g.91887
 ACCATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTG       c.600
 T  I  Q  H  P  P  S  N  R  A  S  T  E  T  Y  S  T  P  A  L         p.200

          .         .         .         .         .         .       g.91947
 TTAGCCCCATCTGAGTCTAATGCTACCAGCACTGCCAACTTTCCCAACATTCCTGTGGCT       c.660
 L  A  P  S  E  S  N  A  T  S  T  A  N  F  P  N  I  P  V  A         p.220

         | 06.         .         .         .         .         .    g.95138
 TCCACAA | GTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATA    c.720
 S  T  S |   Q  P  A  S  I  L  G  G  S  H  S  E  G  L  L  Q  I      p.240

          .         .         .         .         .         .       g.95198
 GCATCAGGGCCTCAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTAC       c.780
 A  S  G  P  Q  P  G  Q  Q  Q  N  G  F  T  G  Q  P  A  T  Y         p.260

         | 07.         .         .         .         .         .    g.95353
 CATCATA | ACAGCACTACCACCTGGACTGGAAGTAGGACTGCACCATACACACCTAATTTG    c.840
 H  H  N |   S  T  T  T  W  T  G  S  R  T  A  P  Y  T  P  N  L      p.280

          .         .         .         .         .         .       g.95413
 CCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACAT       c.900
 P  H  H  Q  N  G  H  L  Q  H  H  P  P  M  P  P  H  P  G  H         p.300

      | 08   .         .         .         .         .      | 09  . g.102388
 TACT | GGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTG | CTCCT c.960
 Y  W |   P  V  H  N  E  L  A  F  Q  P  P  I  S  N  H  P  A |   P   p.320

          .         .         .         .         .         .       g.102448
 GAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGAGAGACATTTAAG       c.1020
 E  Y  W  C  S  I  A  Y  F  E  M  D  V  Q  V  G  E  T  F  K         p.340

          .         .         .         .         .         .       g.102508
 GTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGAT       c.1080
 V  P  S  S  C  P  I  V  T  V  D  G  Y  V  D  P  S  G  G  D         p.360

          .         .         .         .         .          | 10    g.103980
 CGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAG | G    c.1140
 R  F  C  L  G  Q  L  S  N  V  H  R  T  E  A  I  E  R  A  R  |      p.380

          .         .         .         .         .         .       g.104040
 TTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGATGTTTGGGTCAGG       c.1200
 L  H  I  G  K  G  V  Q  L  E  C  K  G  E  G  D  V  W  V  R         p.400

          .         .         .         .         .         .       g.104100
 TGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGT       c.1260
 C  L  S  D  H  A  V  F  V  Q  S  Y  Y  L  D  R  E  A  G  R         p.420

          .         .         .         .         | 11         .    g.113610
 GCACCTGGAGATGCTGTTCATAAGATCTACCCAAGTGCATATATAAAG | GTCTTTGATTTG    c.1320
 A  P  G  D  A  V  H  K  I  Y  P  S  A  Y  I  K   | V  F  D  L      p.440

          .         .         .         .         .         .       g.113670
 CGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCC       c.1380
 R  Q  C  H  R  Q  M  Q  Q  Q  A  A  T  A  Q  A  A  A  A  A         p.460

          .         .         .         .         .         .       g.113730
 CAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAGTAGGTGGAATAGCTCCA       c.1440
 Q  A  A  A  V  A  G  N  I  P  G  P  G  S  V  G  G  I  A  P         p.480

         | 12.         .         .         .         .         .    g.115269
 GCTATCA | GTCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATA    c.1500
 A  I  S |   L  S  A  A  A  G  I  G  V  D  D  L  R  R  L  C  I      p.500

          .         .         .         .         .         .       g.115329
 CTCAGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCATCAAAGAA       c.1560
 L  R  M  S  F  V  K  G  W  G  P  D  Y  P  R  Q  S  I  K  E         p.520

          .         .         .         .         .         .       g.115389
 ACACCTTGCTGGATTGAAATTCACTTACACCGGGCCCTCCAGCTCCTAGACGAAGTACTT       c.1620
 T  P  C  W  I  E  I  H  L  H  R  A  L  Q  L  L  D  E  V  L         p.540

          .         .         .                                     g.115428
 CATACCATGCCGATTGCAGACCCACAACCTTTAGACTGA                            c.1659
 H  T  M  P  I  A  D  P  Q  P  L  D  X                              p.552

          .         .         .         .         .         .       g.115488
 ggtcttttaccgttggggcccttaaccttatcaggatggtggactacaaaatacaatcct       c.*60

          .         .         .         .         .         .       g.115548
 gtttataatctgaagatatatttcacttttgttctgctttatcttttcataaagggttga       c.*120

          .         .         .         .         .         .       g.115608
 aaatgtgtttgctgccttgctcctagcagacagaaactggattaaaacaatttttttttt       c.*180

          .         .         .         .         .         .       g.115668
 cctcttcagaacttgtcaggcatggctcagagcttgaagattaggagaaacacattctta       c.*240

          .         .         .         .         .         .       g.115728
 ttaattcttcacctgttatgtatgaaggaatcattccagtgctagaaaatttagcccttt       c.*300

          .         .         .         .         .         .       g.115788
 aaaacgtcttagagccttttatctgcagaacatcgatatgtatatcattctacagaataa       c.*360

          .         .         .         .         .         .       g.115848
 tccagtattgctgattttaaaggcagagaagttctcaaagttaattcacctatgttattt       c.*420

          .         .         .         .         .         .       g.115908
 tgtgtacaagttgttattgttgaacatacttcaaaaataatgtgccatgtgggtgagtta       c.*480

          .         .         .         .         .         .       g.115968
 attttaccaagagtaactttactctgtgtttaaaaagtaagttaataatgtattgtaatc       c.*540

          .         .         .         .         .         .       g.116028
 tttcatccaaaatattttttgcaagttatattagtgaagatggtttcaattcagattgtc       c.*600

          .         .         .         .         .         .       g.116088
 ttgcaacttcagttttatttttgccaaggcaaaaaactcttaatctgtgtgtatattgag       c.*660

          .         .         .         .         .         .       g.116148
 aatcccttaaaattaccagacaaaaaaatttaaaattacgtttgttattcctagtggatg       c.*720

          .         .         .         .         .         .       g.116208
 actgttgatgaagtatacttttcccctgttaaacagtagttgtattcttctgtatttcta       c.*780

          .         .         .         .         .         .       g.116268
 ggcacaaggttggttgctaagaagcctataagaggaatttcttttccttcattcataggg       c.*840

          .         .         .         .         .         .       g.116328
 aaaggttttgtattttttaaaacactaaaagcagcgtcactctacctaatgtctcactgt       c.*900

          .         .         .         .         .         .       g.116388
 tctgcaaaggtggcaatgcttaaactaaataatgaataaactgaatattttggaaactgc       c.*960

          .         .         .         .         .         .       g.116448
 taaattctatgttaaatactgtgcagaataatggaaacattacagttcataataggtagt       c.*1020

          .         .         .         .         .         .       g.116508
 ttggatatttttgtacttgatttgatgtgactttttttggtataatgtttaaatcatgta       c.*1080

          .         .         .         .         .         .       g.116568
 tgttatgatattgtttaaaattcagtttttgtatcttggggcaagactgcaaactttttt       c.*1140

          .         .         .         .         .         .       g.116628
 atatcttttggttattctaagccctttgccatcaatgatcatatcaattggcagtgactt       c.*1200

          .         .         .         .         .         .       g.116688
 tgtatagagaatttaagtagaaaagttgcagatgtattgactgtaccacagacacaatat       c.*1260

          .         .         .         .         .         .       g.116748
 gtatgctttttacctagctggtagcataaataaaactgaatctcaacatacaaagttgaa       c.*1320

          .         .         .         .         .         .       g.116808
 ttctaggtttgatttttaagattttttttttcttttgcacttttgagtccaatctcagtg       c.*1380

          .         .         .         .         .         .       g.116868
 atgaggtaccttctactaaatgacaggcaacagccagttctattgggcagctttgttttt       c.*1440

          .         .         .         .         .         .       g.116928
 ttccctcacactctaccgggacttccccatggacattgtgtatcatgtgtagagttggtt       c.*1500

          .         .         .         .         .         .       g.116988
 ttttttttttttaatttttattttactatagcagaaatagacctgattatctacaagatg       c.*1560

          .         .         .         .         .         .       g.117048
 ataaatagattgtctacaggataaatagtatgaaataaaatcaaggattatctttcagat       c.*1620

          .         .         .         .         .         .       g.117108
 gtgtttacttttgcctggagaacttttagctatagaaacacttgtgtgatgatagtcctc       c.*1680

          .         .         .         .         .         .       g.117168
 cttatatcacctggaatgaacacagcttctactgccttgctcagaaggtcttttaaatag       c.*1740

          .         .         .         .         .         .       g.117228
 accatcctagaaaccactgagtttgcttatttctgtgatttaaacatagatcttgatcca       c.*1800

          .         .         .         .         .         .       g.117288
 agctacatgacttttgtctttaaataacttatctaccacctcatttgtactcttgattac       c.*1860

          .         .         .         .         .         .       g.117348
 ttacaaattctttcagtaaacacctaattttcttctgtaaaagtttggtgatttaagttt       c.*1920

          .         .         .         .         .         .       g.117408
 tattggcagttttataaaaagacatcttctctagaaattgctaactttaggtccatttta       c.*1980

          .         .         .         .         .         .       g.117468
 ctgtgaatgaggaataggagtgagttttagaataacagatttttaaaaatccagatgatt       c.*2040

          .         .         .         .         .         .       g.117528
 tgattaaaaccttaatcatacattgacataattcattgcttcttttttttgagatatgga       c.*2100

          .         .         .         .         .         .       g.117588
 gtcttgctgtgttgcccaggcaggagtgcagtggtatgatctcagctcactgcaacctct       c.*2160

          .         .         .         .         .         .       g.117648
 gcctcccgggttcaactgattctcctgcctcagcctccctggtagctaggattacaggtg       c.*2220

          .         .         .         .         .         .       g.117708
 cccgccaccatgcctggctaacttttgtagttttagtagagacggggttttgcctgttgg       c.*2280

          .         .         .         .         .         .       g.117768
 ccaggctggtcttgaactcctgacctcaagtgatccatccaccttggcctcccaaagtgc       c.*2340

          .         .         .         .         .         .       g.117828
 tgggattacgggcgtgagccactgtccctggcctcattgttcccttttctactttaagga       c.*2400

          .         .         .         .         .         .       g.117888
 aagttttcatgtttaatcatctggggaaagtatgtgaaaaatatttgttaagaagtatct       c.*2460

          .         .         .         .         .         .       g.117948
 ctttggagccaagccacctgtcttggtttctttctactaagagccataaagtatagaaat       c.*2520

          .         .         .         .         .         .       g.118008
 acttctagttgttaagtgcttatatttgtacctagatttagtcacacgcttttgagaaaa       c.*2580

          .         .         .         .         .         .       g.118068
 catctagtatgttatgatcagctattcctgagagcttggttgttaatctatatttctatt       c.*2640

          .         .         .         .         .         .       g.118128
 tcttagtggtagtcatctttgatgaataagactaaagattctcacaggtttaaaatttta       c.*2700

          .         .         .         .         .         .       g.118188
 tgtctactttaagggtaaaattatgaggttatggttctgggtgggttttctctagctaat       c.*2760

          .         .         .         .         .         .       g.118248
 tcatatctcaaagagtctcaaaatgttgaatttcagtgcaagctgaatgagagatgagcc       c.*2820

          .         .         .         .         .         .       g.118308
 atgtacacccaccgtaagacctcattccatgtttgtccagtgcctttcagtgcattatca       c.*2880

          .         .         .         .         .         .       g.118368
 aagggaatccttcatggtgttgcctttattttccggggagtagatcgtgggatatagtct       c.*2940

          .         .         .         .         .         .       g.118428
 atctcatttttaatagtttaccgcccctggtatacaaagataatgacaataaatcactgc       c.*3000

          .         .         .         .         .         .       g.118488
 catataaccttgctttttccagaaacatggctgttttgtattgctgtaaccactaaatag       c.*3060

          .         .         .         .         .         .       g.118548
 gttgcctataccattcctcctgtgaacagtgcagatttacaggttgcatggtctggctta       c.*3120

          .         .         .         .         .         .       g.118608
 aggagagccatacttgagacatgtgagtaaactgaactcatattagctgtgctgcatttc       c.*3180

          .         .         .         .         .         .       g.118668
 agacttaaaatccatttttgtggggcagggtgtggtgtgtaaaggggggtgtttgtaata       c.*3240

          .         .         .         .         .         .       g.118728
 caagttgaaggcaaaataaaatgtcctgtctcccagatgatatacatcttattattttta       c.*3300

          .         .         .         .         .         .       g.118788
 aagtttattgctaattgtaggaaggtgagttgcaggtatctttgactatggtcatctggg       c.*3360

          .         .         .         .         .         .       g.118848
 gaaggaaaattttacattttactattaatgctccttaagtgtctatggaggttaaagaat       c.*3420

          .         .         .         .         .         .       g.118908
 aaaatggtaaatgtttctgtgcctggtttgatggtaactggttaatagttactcaccatt       c.*3480

          .         .         .         .         .         .       g.118968
 ttatgcagagtcacattagttcacaccctttctgagagccttttgggagaagcagtttta       c.*3540

          .         .         .         .         .         .       g.119028
 ttctctgagtggaacagagttctttttgttgataatttctagtttgctcccttcgttatt       c.*3600

          .         .         .         .         .         .       g.119088
 gccaactttactggcattttatttaatgatagcagattgggaaaatggcaaatttaggtt       c.*3660

          .         .         .         .         .         .       g.119148
 acggaggtaaatgagtatatgaaagcaattacctctaaagccagttaacaattattttgt       c.*3720

          .         .         .         .         .         .       g.119208
 aggtggggtacactcagcttaaagtaatgcatttttttttcccgtaaaggcagaatccat       c.*3780

          .         .         .         .         .         .       g.119268
 cttgttgcagatagctatctaaataatctcatatcctcttttgcaaagactacagagaat       c.*3840

          .         .         .         .         .         .       g.119328
 aggctatgacaatcttgttcaagcctttccatttttttccctgataactaagtaatttct       c.*3900

          .         .         .         .         .         .       g.119388
 ttgaacataccaagaagtatgtaaaaagtccatggccttattcatccacaaagtggcatc       c.*3960

          .         .         .         .         .         .       g.119448
 ctaggcccagccttatccctagcagttgtcccagtgctgctaggttgcttatcttgttta       c.*4020

          .         .         .         .         .         .       g.119508
 tctggaatcactgtggagtgaaattttccacatcatccagaattgccttatttaagaagt       c.*4080

          .         .         .         .         .         .       g.119568
 aaaacgttttaatttttagcctttttttggtggagttatttaatatgtatatcagaggat       c.*4140

          .         .         .         .         .         .       g.119628
 atactagatggtaacatttctttctgtgcttggctatctttgtggacttcaggggcttct       c.*4200

          .         .         .         .         .         .       g.119688
 aaaacagacaggactgtgttgcctttactaaatggtctgagacagctatggttttgaatt       c.*4260

          .         .         .         .         .         .       g.119748
 tttagttttttttttttaacccacttcccctcctggtctcttccctctctgataattacc       c.*4320

          .         .         .         .         .         .       g.119808
 attcatatgtgagtgttagtgtgcctccttttagcattttcttcttctctttctgattct       c.*4380

          .         .         .         .         .         .       g.119868
 tcatttctgactgcctaggcaaggaaaccagataaccaaacttactagaacgttctttaa       c.*4440

          .         .         .         .         .         .       g.119928
 aacacaagtacaaactctgggacaggacccaagacactttcctgtgaagtgctgaaaaag       c.*4500

          .         .         .         .         .         .       g.119988
 acctcattgtattggcatttgatatcagtttgatgtagcttagagtgcttcctgattctt       c.*4560

          .         .         .         .         .         .       g.120048
 gctgagtttcaggtagttgagatagagagaagtgagtcatattcatattttcccccttag       c.*4620

          .         .         .         .         .         .       g.120108
 aataatattttgaaaggtttcattgcttccacttgaatgctgctcttacaaaaactgggg       c.*4680

          .         .         .         .         .         .       g.120168
 ttacaagggttactaaattagcatcagtagccagaggcaataccgttgtctggaggacac       c.*4740

          .         .         .         .         .         .       g.120228
 cagcaaacaacacacaacaaagcaaaacaaaccttgggaaactaaggccatttgttttgt       c.*4800

          .         .         .         .         .         .       g.120288
 tttggtgtcccctttgaagccctgccttctggccttactcctgtacagatatttttgacc       c.*4860

          .         .         .         .         .         .       g.120348
 tataggtgcctttatgagaattgagggtctgacatcctgccccaaggagtagctaaagta       c.*4920

          .         .         .         .         .         .       g.120408
 attgctagtgttttcagggattttaacatcagactggaatgaatgaatgaaactttttgt       c.*4980

          .         .         .         .         .         .       g.120468
 cctttttttttctgtttttttttttctaatgtagtaaggactaaggaaaacctttggtga       c.*5040

          .         .         .         .         .         .       g.120528
 agacaatcatttctctctgttgatgtggatacttttcacaccgtttatttaaatgctttc       c.*5100

          .         .         .         .         .         .       g.120588
 tcaataggtccagagccagtgttcttgttcaacctgaaagtaatggctctgggttgggcc       c.*5160

          .         .         .         .         .         .       g.120648
 agacagttgcactctctagtttgccctctgccacaaatttgatgtgtgacctttgggcaa       c.*5220

          .         .         .         .         .         .       g.120708
 gtcatttatcttctctgggccttagttgcctcatctgtaaaatgagggagttggagtaga       c.*5280

          .         .         .         .         .         .       g.120768
 ttaattattccagctctgaaattctaagtgaccttggctaccttgcagcagttttggatt       c.*5340

          .         .         .         .         .         .       g.120828
 tcttccttatctttgttctgctgtttgagggggctttttacttatttccatgttattcaa       c.*5400

          .         .         .         .         .         .       g.120888
 aggagactaggcttgatattttattactgttcttttatggacaaaaggttacatagtatg       c.*5460

          .         .         .         .         .         .       g.120948
 cccttaagacttaattttaaccaaaggcctagcaccaccttaggggctgcaataaacact       c.*5520

          .         .         .         .         .         .       g.121008
 taacgcgcgtgcgcacgcgcgcgcgcacacacacacacacacacacacacacacacaggt       c.*5580

          .         .         .         .         .         .       g.121068
 cagagtttaaggctttcgagtcatgacattctagcttttgaattgcgtgcacacacacac       c.*5640

          .         .         .         .         .         .       g.121128
 gcacgcacacactctggtcagagtttattaaggctttcgagtcatgacattatagctttt       c.*5700

          .         .         .         .         .         .       g.121188
 gagttggtgtgtgtgacaccaccctcctaagtggtgtgtgcttgtaattttttttttcag       c.*5760

          .         .         .         .         .         .       g.121248
 tgaaaatggattgaaaacctgttgttaatgcttagtgatattatgctcaaaacaaggaaa       c.*5820

          .         .         .         .         .         .       g.121308
 ttcccttgaaccgtgtcaattaaactggtttatatgactcaagaaaacaataccagtaga       c.*5880

          .         .         .         .         .         .       g.121368
 tgattattaactttattcttggctctttttaggtccattttgattaagtgacttttggct       c.*5940

          .         .         .         .         .         .       g.121428
 ggatcattcagagctctcttctagcctacccttggatgagtacaattaatgaaattcata       c.*6000

          .         .         .         .         .         .       g.121488
 ttttcaaggacctgggagccttccttggggctgggttgagggtggggggttggggagtcc       c.*6060

          .         .         .         .         .         .       g.121548
 tggtagaggccagctttgtggtagctggagaggaagggatgaaaccagctgctgttgcaa       c.*6120

          .         .         .         .         .         .       g.121608
 aggctgcttgtcattgatagaaggactcacgggcttggattgattaagactaaacatgga       c.*6180

          .         .         .         .         .         .       g.121668
 gttggcaaactttcttcaagtattgagttctgttcaatgcattggacatgtgatttaagg       c.*6240

          .         .         .         .         .         .       g.121728
 gaaaagtgtgaatgcttatagatgatgaaaacctggtgggctgcagagcccagtttagaa       c.*6300

          .         .         .         .         .         .       g.121788
 gaagtgagttgggggttggggacagatttggtggtggtatttcccaactgtttcctcccc       c.*6360

          .         .         .         .         .         .       g.121848
 taaattcagaggaatgcagctatgccagaagccagagaagagccactcgtagcttctgct       c.*6420

          .         .         .         .         .         .       g.121908
 ttggggacaactggtcagttgaaagtcccaggagttcctttgtggctttctgtatacttt       c.*6480

          .         .         .         .         .         .       g.121968
 tgcctggttaaagtctgtggctaaaaaatagtcgaacctttcttgagaactctgtaacaa       c.*6540

          .         .         .                                     g.122003
 agtatgtttttgattaaaagagaaagccaactaaa                                c.*6575

 (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 SMAD family member 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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