son of sevenless homolog 1 (Drosophila) (SOS1) - coding DNA reference sequence

(used for variant description)

(last modified August 17, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_005633.3 in the SOS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007530.1, covering SOS1 transcript NM_005633.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5041
                    ccgccgcccctctccccgcccagaggcgccccgggggcacc       c.-1

          .         .         .         .         .         .       g.5101
 ATGCAGGCGCAGCAGCTGCCCTACGAGTTTTTCAGCGAAGAGAACGCGCCCAAGTGGCGG       c.60
 M  Q  A  Q  Q  L  P  Y  E  F  F  S  E  E  N  A  P  K  W  R         p.20

          .         .        | 02.         .         .         .    g.57743
 GGACTACTGGTGCCTGCGCTGAAAAAG | GTCCAGGGGCAAGTTCATCCTACTCTCGAGTCT    c.120
 G  L  L  V  P  A  L  K  K   | V  Q  G  Q  V  H  P  T  L  E  S      p.40

          .         .         .         .         .         .       g.57803
 AATGATGATGCTCTTCAGTATGTTGAAGAATTAATTTTGCAATTATTAAATATGCTATGC       c.180
 N  D  D  A  L  Q  Y  V  E  E  L  I  L  Q  L  L  N  M  L  C         p.60

          .         .         .    | 03    .         .         .    g.66686
 CAAGCTCAGCCCCGAAGTGCTTCAGATGTAGAG | GAACGTGTTCAAAAAAGTTTCCCTCAT    c.240
 Q  A  Q  P  R  S  A  S  D  V  E   | E  R  V  Q  K  S  F  P  H      p.80

          .         .         .         .         .         .       g.66746
 CCAATTGATAAATGGGCAATAGCTGATGCCCAATCAGCTATTGAAAAGAGGAAGCGAAGA       c.300
 P  I  D  K  W  A  I  A  D  A  Q  S  A  I  E  K  R  K  R  R         p.100

          .         .         .         .      | 04  .         .    g.68612
 AACCCTTTATCTCTCCCAGTAGAAAAAATTCATCCTTTATTAAAG | GAGGTCCTAGGTTAT    c.360
 N  P  L  S  L  P  V  E  K  I  H  P  L  L  K   | E  V  L  G  Y      p.120

          .         .         .         .         .         .       g.68672
 AAAATTGACCACCAGGTTTCTGTTTACATAGTAGCAGTCTTAGAATACATTTCTGCAGAC       c.420
 K  I  D  H  Q  V  S  V  Y  I  V  A  V  L  E  Y  I  S  A  D         p.140

          .         .         .         .         .         .       g.68732
 ATTTTAAAGCTGGTTGGGAATTATGTAAGAAATATACGGCATTATGAAATTACAAAACAA       c.480
 I  L  K  L  V  G  N  Y  V  R  N  I  R  H  Y  E  I  T  K  Q         p.160

          .         .         . | 05       .         .         .    g.70670
 GATATTAAAGTGGCAATGTGTGCTGACAAG | GTATTGATGGATATGTTTCATCAAGATGTA    c.540
 D  I  K  V  A  M  C  A  D  K   | V  L  M  D  M  F  H  Q  D  V      p.180

          .         .         .         .         .         .       g.70730
 GAAGATATTAATATATTATCTTTAACTGACGAAGAGCCTTCCACCTCAGGAGAACAAACT       c.600
 E  D  I  N  I  L  S  L  T  D  E  E  P  S  T  S  G  E  Q  T         p.200

          .         .         .         .         .         .       g.70790
 TACTATGATTTGGTAAAAGCATTTATGGCAGAAATTCGACAATATATAAGGGAACTAAAT       c.660
 Y  Y  D  L  V  K  A  F  M  A  E  I  R  Q  Y  I  R  E  L  N         p.220

          .         .         .         .         .         .       g.70850
 CTAATTATAAAAGTTTTTAGAGAGCCCTTTGTCTCCAATTCAAAATTGTTTTCAGCTAAT       c.720
 L  I  I  K  V  F  R  E  P  F  V  S  N  S  K  L  F  S  A  N         p.240

  | 06       .         .         .         .         .         .    g.74236
  | GATGTAGAAAATATATTTAGTCGCATAGTAGATATACATGAACTTAGTGTAAAGTTACTG    c.780
  | D  V  E  N  I  F  S  R  I  V  D  I  H  E  L  S  V  K  L  L      p.260

          .         .         .         .         .         .       g.74296
 GGCCATATAGAAGATACAGTAGAAATGACAGATGAAGGCAGTCCCCATCCACTAGTAGGA       c.840
 G  H  I  E  D  T  V  E  M  T  D  E  G  S  P  H  P  L  V  G         p.280

          .         .     | 07   .         .         .         .    g.89999
 AGCTGCTTTGAAGACTTAGCAGAG | GAACTGGCATTTGATCCATATGAATCGTATGCTCGA    c.900
 S  C  F  E  D  L  A  E   | E  L  A  F  D  P  Y  E  S  Y  A  R      p.300

          .         .         .         .         .         .       g.90059
 GATATTTTGCGACCTGGTTTTCATGATCGTTTCCTTAGTCAGTTATCAAAGCCTGGGGCA       c.960
 D  I  L  R  P  G  F  H  D  R  F  L  S  Q  L  S  K  P  G  A         p.320

          .      | 08  .         .         .         .         .    g.90198
 GCACTTTATTTGCAG | TCAATAGGCGAAGGTTTCAAAGAAGCTGTTCAATATGTTTTACCC    c.1020
 A  L  Y  L  Q   | S  I  G  E  G  F  K  E  A  V  Q  Y  V  L  P      p.340

          .         .         .         .         .     | 09   .    g.101332
 AGGCTGCTTCTGGCCCCTGTTTACCACTGTCTCCATTACTTTGAACTTTTGAAG | CAGTTA    c.1080
 R  L  L  L  A  P  V  Y  H  C  L  H  Y  F  E  L  L  K   | Q  L      p.360

          .         .         .         .         .         .       g.101392
 GAAGAAAAAAGTGAAGATCAAGAAGACAAGGAATGTTTAAAACAAGCAATAACAGCTTTG       c.1140
 E  E  K  S  E  D  Q  E  D  K  E  C  L  K  Q  A  I  T  A  L         p.380

          .         .         .         .         .         .       g.101452
 CTTAATGTTCAGAGTGGTATGGAAAAAATATGTTCTAAAAGTCTTGCAAAACGAAGACTG       c.1200
 L  N  V  Q  S  G  M  E  K  I  C  S  K  S  L  A  K  R  R  L         p.400

    | 10     .         .         .         .         .         .    g.102296
 AG | TGAATCTGCATGTCGGTTTTATAGTCAGCAAATGAAGGGGAAACAACTAGCAATCAAG    c.1260
 S  |  E  S  A  C  R  F  Y  S  Q  Q  M  K  G  K  Q  L  A  I  K      p.420

          .         .         .         .         .         .       g.102356
 AAGATGAACGAGATTCAGAAGAATATTGATGGTTGGGAGGGAAAAGACATTGGACAGTGT       c.1320
 K  M  N  E  I  Q  K  N  I  D  G  W  E  G  K  D  I  G  Q  C         p.440

          .         .         .         .         .         .       g.102416
 TGTAATGAATTTATAATGGAAGGAACTCTTACACGTGTAGGAGCCAAACATGAGAGACAC       c.1380
 C  N  E  F  I  M  E  G  T  L  T  R  V  G  A  K  H  E  R  H         p.460

          .         .         .         .         .         .       g.102476
 ATATTTCTCTTTGATGGCTTAATGATTTGCTGTAAATCAAATCATGGGCAGCCAAGACTT       c.1440
 I  F  L  F  D  G  L  M  I  C  C  K  S  N  H  G  Q  P  R  L         p.480

          .         .         .         .         .         .       g.102536
 CCTGGTGCTAGCAATGCAGAATATCGTCTTAAAGAAAAGTTTTTTATGCGAAAGGTACAA       c.1500
 P  G  A  S  N  A  E  Y  R  L  K  E  K  F  F  M  R  K  V  Q         p.500

          .         .         .         .         .         .       g.102596
 ATTAATGATAAAGATGACACCAATGAATACAAGCATGCTTTTGAAATAATTTTAAAAGAT       c.1560
 I  N  D  K  D  D  T  N  E  Y  K  H  A  F  E  I  I  L  K  D         p.520

          .         .         .         .         .         .       g.102656
 GAAAATAGTGTTATATTTTCTGCCAAGTCAGCTGAAGAGAAAAACAATTGGATGGCAGCA       c.1620
 E  N  S  V  I  F  S  A  K  S  A  E  E  K  N  N  W  M  A  A         p.540

          .         .         .         .         .         .       g.102716
 TTGATATCTTTACAGTACCGGAGTACACTGGAAAGGATGCTTGATGTAACAATGCTACAG       c.1680
 L  I  S  L  Q  Y  R  S  T  L  E  R  M  L  D  V  T  M  L  Q         p.560

          .         .         .         .         .         .       g.102776
 GAAGAGAAAGAGGAGCAGATGAGGCTGCCTAGTGCTGATGTTTATAGATTTGCAGAGCCT       c.1740
 E  E  K  E  E  Q  M  R  L  P  S  A  D  V  Y  R  F  A  E  P         p.580

          .         .         .         .         .         .       g.102836
 GACTCTGAAGAGAATATTATATTTGAAGAGAACATGCAGCCCAAGGCTGGAATTCCAATT       c.1800
 D  S  E  E  N  I  I  F  E  E  N  M  Q  P  K  A  G  I  P  I         p.600

          .         .         .         .         .         | 11    g.110619
 ATCAAAGCAGGAACTGTTATTAAACTTATAGAGAGGCTTACGTACCATATGTACGCAG | AT    c.1860
 I  K  A  G  T  V  I  K  L  I  E  R  L  T  Y  H  M  Y  A  D |       p.620

          .         .         .         .         .         .       g.110679
 CCCAATTTTGTTCGGACATTTCTTACAACATACAGATCCTTTTGCAAACCTCAAGAACTA       c.1920
 P  N  F  V  R  T  F  L  T  T  Y  R  S  F  C  K  P  Q  E  L         p.640

          .         . | 12       .         .         .         .    g.111514
 CTGAGTCTTATAATAGAAAG | GTTTGAAATTCCAGAGCCTGAGCCAACAGAAGCTGATCGC    c.1980
 L  S  L  I  I  E  R  |  F  E  I  P  E  P  E  P  T  E  A  D  R      p.660

          .         .         .         .         .         .       g.111574
 ATAGCTATAGAGAATGGAGATCAACCCTTGAGTGCAGAACTGAAAAGATTTAGAAAAGAA       c.2040
 I  A  I  E  N  G  D  Q  P  L  S  A  E  L  K  R  F  R  K  E         p.680

          .         .    | 13    .         .         .         .    g.111937
 TATATACAGCCTGTGCAACTGCG | AGTATTAAATGTATGTCGGCACTGGGTAGAGCACCAC    c.2100
 Y  I  Q  P  V  Q  L  R  |  V  L  N  V  C  R  H  W  V  E  H  H      p.700

          .         .         .         .         .         .       g.111997
 TTCTATGATTTTGAAAGAGATGCATATCTTTTGCAACGAATGGAAGAATTTATTGGAACA       c.2160
 F  Y  D  F  E  R  D  A  Y  L  L  Q  R  M  E  E  F  I  G  T         p.720

         | 14.         .         .         .         .         .    g.113168
 GTAAGAG | GTAAAGCAATGAAAAAATGGGTTGAATCCATCACTAAAATAATCCAAAGGAAA    c.2220
 V  R  G |   K  A  M  K  K  W  V  E  S  I  T  K  I  I  Q  R  K      p.740

          .         .         .         .         .         .       g.113228
 AAAATTGCAAGAGACAATGGACCAGGTCATAATATTACATTTCAGAGTTCACCTCCCACA       c.2280
 K  I  A  R  D  N  G  P  G  H  N  I  T  F  Q  S  S  P  P  T         p.760

          .         .         .         .         .         .       g.113288
 GTTGAGTGGCATATAAGCAGACCTGGGCACATAGAGACTTTTGACCTGCTCACCTTACAC       c.2340
 V  E  W  H  I  S  R  P  G  H  I  E  T  F  D  L  L  T  L  H         p.780

          .         .         .         .         . | 15       .    g.114770
 CCAATAGAAATTGCTCGACAACTCACTTTACTTGAATCAGATCTATACCG | AGCTGTACAG    c.2400
 P  I  E  I  A  R  Q  L  T  L  L  E  S  D  L  Y  R  |  A  V  Q      p.800

          .         .         .         .         .         .       g.114830
 CCATCAGAATTAGTTGGAAGTGTGTGGACAAAAGAAGACAAAGAAATTAACTCTCCTAAT       c.2460
 P  S  E  L  V  G  S  V  W  T  K  E  D  K  E  I  N  S  P  N         p.820

          .         .         .         .         . | 16       .    g.118280
 CTTCTGAAAATGATTCGACATACCACCAACCTCACTCTGTGGTTTGAGAA | ATGTATTGTA    c.2520
 L  L  K  M  I  R  H  T  T  N  L  T  L  W  F  E  K  |  C  I  V      p.840

          .         .         .         .         .         .       g.118340
 GAAACTGAAAATTTAGAAGAAAGAGTAGCTGTGGTGAGTCGAATTATTGAGATTCTACAA       c.2580
 E  T  E  N  L  E  E  R  V  A  V  V  S  R  I  I  E  I  L  Q         p.860

          .         .         .         .         .         .       g.118400
 GTCTTTCAAGAGTTGAACAACTTTAATGGTGTCCTTGAGGTTGTCAGTGCTATGAATTCA       c.2640
 V  F  Q  E  L  N  N  F  N  G  V  L  E  V  V  S  A  M  N  S         p.880

          .         .         .    | 17    .         .         .    g.118961
 TCACCTGTTTACAGACTAGACCACACATTTGAG | CAAATACCAAGTCGCCAGAAGAAAATT    c.2700
 S  P  V  Y  R  L  D  H  T  F  E   | Q  I  P  S  R  Q  K  K  I      p.900

          .         .         .         .         .         .       g.119021
 TTAGAAGAAGCTCATGAATTGAGTGAAGATCACTATAAGAAATATTTGGCAAAACTCAGG       c.2760
 L  E  E  A  H  E  L  S  E  D  H  Y  K  K  Y  L  A  K  L  R         p.920

          .         .         .  | 18      .         .         .    g.128067
 TCTATTAATCCACCATGTGTGCCTTTCTTTG | GAATTTATCTCACTAATATCTTGAAAACA    c.2820
 S  I  N  P  P  C  V  P  F  F  G |   I  Y  L  T  N  I  L  K  T      p.940

          .         .         .         .         .         .       g.128127
 GAAGAAGGCAACCCTGAGGTCCTAAAAAGACATGGAAAAGAGCTTATAAACTTTAGCAAA       c.2880
 E  E  G  N  P  E  V  L  K  R  H  G  K  E  L  I  N  F  S  K         p.960

          .         .         .         .         .         .       g.128187
 AGGAGGAAAGTAGCAGAAATAACAGGAGAGATCCAGCAGTACCAAAATCAGCCTTACTGT       c.2940
 R  R  K  V  A  E  I  T  G  E  I  Q  Q  Y  Q  N  Q  P  Y  C         p.980

          .         .     | 19   .         .         .         .    g.128461
 TTACGAGTAGAATCAGATATCAAA | AGGTTCTTTGAAAACTTGAATCCGATGGGAAATAGC    c.3000
 L  R  V  E  S  D  I  K   | R  F  F  E  N  L  N  P  M  G  N  S      p.1000

          .         .         .         .         .         .       g.128521
 ATGGAGAAGGAATTTACAGATTATCTTTTCAACAAATCCCTAGAAATAGAACCACGAAAC       c.3060
 M  E  K  E  F  T  D  Y  L  F  N  K  S  L  E  I  E  P  R  N         p.1020

          .         .  | 20      .         .         .         .    g.130115
 CCTAAGCCTCTCCCAAGATTT | CCAAAAAAATATAGCTATCCCCTAAAATCTCCTGGTGTT    c.3120
 P  K  P  L  P  R  F   | P  K  K  Y  S  Y  P  L  K  S  P  G  V      p.1040

          .         .         .         .         .         .       g.130175
 CGTCCATCAAACCCAAGACCAGGTACCATGAGGCATCCCACACCTCTGCAGCAGGAGCCA       c.3180
 R  P  S  N  P  R  P  G  T  M  R  H  P  T  P  L  Q  Q  E  P         p.1060

          .         .         .         .         .         .       g.130235
 AGGAAAATTAGTTATAGTAGGATCCCTGAAAGTGAAACAGAAAGTACAGCATCTGCACCA       c.3240
 R  K  I  S  Y  S  R  I  P  E  S  E  T  E  S  T  A  S  A  P         p.1080

          .         .         .         .         .         .       g.130295
 AATTCTCCAAGAACACCGTTAACACCTCCGCCTGCTTCTGGTGCTTCCAGTACCACAGAT       c.3300
 N  S  P  R  T  P  L  T  P  P  P  A  S  G  A  S  S  T  T  D         p.1100

          .         .         .         .       | 21 .         .    g.136163
 GTTTGCAGTGTATTTGATTCCGATCATTCGAGCCCTTTTCACTCAA | GCAATGATACCGTC    c.3360
 V  C  S  V  F  D  S  D  H  S  S  P  F  H  S  S |   N  D  T  V      p.1120

          .         .         .  | 22      .         .         .    g.137901
 TTTATCCAAGTTACTCTGCCCCATGGCCCAA | GATCTGCTTCTGTATCATCTATAAGTTTA    c.3420
 F  I  Q  V  T  L  P  H  G  P  R |   S  A  S  V  S  S  I  S  L      p.1140

          .         .         .         .         .         .       g.137961
 ACCAAAGGCACTGATGAAGTGCCTGTCCCTCCTCCTGTTCCTCCACGAAGACGACCAGAA       c.3480
 T  K  G  T  D  E  V  P  V  P  P  P  V  P  P  R  R  R  P  E         p.1160

          .         .         . | 23       .         .         .    g.139178
 TCTGCCCCAGCAGAATCTTCACCATCTAAG | ATTATGTCTAAGCATTTGGACAGTCCCCCA    c.3540
 S  A  P  A  E  S  S  P  S  K   | I  M  S  K  H  L  D  S  P  P      p.1180

          .         .         .         .         .         .       g.139238
 GCCATTCCTCCTAGGCAACCCACATCAAAAGCCTATTCACCACGATATTCAATATCAGAC       c.3600
 A  I  P  P  R  Q  P  T  S  K  A  Y  S  P  R  Y  S  I  S  D         p.1200

          .         .         .         .         .         .       g.139298
 CGGACCTCTATCTCAGACCCTCCTGAAAGCCCTCCCTTATTACCACCACGAGAACCTGTG       c.3660
 R  T  S  I  S  D  P  P  E  S  P  P  L  L  P  P  R  E  P  V         p.1220

          .         .         .         .         .         .       g.139358
 AGGACACCTGATGTTTTCTCAAGCTCACCACTACATCTCCAACCTCCCCCTTTGGGCAAA       c.3720
 R  T  P  D  V  F  S  S  S  P  L  H  L  Q  P  P  P  L  G  K         p.1240

          .         .         .         .         .         .       g.139418
 AAAAGTGACCATGGCAATGCCTTCTTCCCAAACAGCCCTTCCCCCTTTACACCACCTCCT       c.3780
 K  S  D  H  G  N  A  F  F  P  N  S  P  S  P  F  T  P  P  P         p.1260

          .         .         .         .         .         .       g.139478
 CCTCAAACACCTTCTCCTCACGGCACAAGAAGGCATCTGCCATCACCACCATTGACACAA       c.3840
 P  Q  T  P  S  P  H  G  T  R  R  H  L  P  S  P  P  L  T  Q         p.1280

          .         .         .         .         .         .       g.139538
 GAAGTGGACCTTCATTCCATTGCTGGGCCGCCTGTTCCTCCACGACAAAGCACTTCTCAA       c.3900
 E  V  D  L  H  S  I  A  G  P  P  V  P  P  R  Q  S  T  S  Q         p.1300

          .         .         .         .         .         .       g.139598
 CATATCCCTAAACTCCCTCCAAAAACTTACAAAAGGGAGCACACACACCCATCCATGCAC       c.3960
 H  I  P  K  L  P  P  K  T  Y  K  R  E  H  T  H  P  S  M  H         p.1320

          .         .         .         .                           g.139640
 AGAGATGGACCACCACTGTTGGAGAATGCCCATTCTTCCTGA                         c.4002
 R  D  G  P  P  L  L  E  N  A  H  S  S  X                           p.1333

          .         .         .         .         .         .       g.139700
 gttcctctgtactgggatgtatattttcctagccccaaatccattgctggcaatggatgc       c.*60

          .         .         .         .         .         .       g.139760
 actgaatgtgccagcactgaggagttaaaatgagaactccaaacactaacgactcttctt       c.*120

          .         .         .         .         .         .       g.139820
 caagatgcagtataagacaatgaattttaacctagatgtaattatacaatggaaatggta       c.*180

          .         .         .         .         .         .       g.139880
 ttccagtttagaatatggaaagaccgacctagaggaattggacaactgattgcacctgaa       c.*240

          .         .         .         .         .         .       g.139940
 aatcataaagggactttttctggccaataggcaggagtcctctttttgtgaagtgatctt       c.*300

          .         .         .         .         .         .       g.140000
 ttgtgaagtgatcattaaagggatggaaaacacagtctagtgtccagcaggcccacatga       c.*360

          .         .         .         .         .         .       g.140060
 cagtttttgtaattcaaattatgcacttttaaaaaaaaaaacttaaacagggatcttaat       c.*420

          .         .         .         .         .         .       g.140120
 atcttcctttgttttcctttgctttactcttctactttagaatattttcttaaaaatcac       c.*480

          .         .         .         .         .         .       g.140180
 tcaaaggactgtgaggaaaggctgtggtacctgaccttgttgaaatcaaggcccggcact       c.*540

          .         .         .         .         .         .       g.140240
 gtactacaggcctgtttacagattattacggtgaactgaatgggtaccgaggcttcacca       c.*600

          .         .         .         .         .         .       g.140300
 aagaggtacttttttgttgttgttgttgttttaggaataattgtaccaattttaagagca       c.*660

          .         .         .         .         .         .       g.140360
 ttccccccacctgtccccacacacccaaacaaaatgtggtggtgttgccttcaaaaaaga       c.*720

          .         .         .         .         .         .       g.140420
 gaagttttgtgtcattaacatgacagaagaactttttaaaaaaaaataactgtcaactat       c.*780

          .         .         .         .         .         .       g.140480
 tctatttgcatttaggagactgttcatctatgctagattgtcattttccctccttctccc       c.*840

          .         .         .         .         .         .       g.140540
 acagaagtttactggtagtccatgtcatggctcgtagctatccctctaaccataccatgg       c.*900

          .         .         .         .         .         .       g.140600
 aaatgcaggcacccaatgtgaaaaggagcacttgctgggcatcactgacaccgctcatgt       c.*960

          .         .         .         .         .         .       g.140660
 tttacacatagttgagtaatcagcatatctagaattatcttgcattgcctaaatcatatg       c.*1020

          .         .         .         .         .         .       g.140720
 tatatagtgaatgttatataatatacctggcaggtctgttttaatttaattgaataaaga       c.*1080

          .         .         .         .         .         .       g.140780
 tacaaatactttgtttggctggcatatattaaattattatatgaagaaaatggttgattc       c.*1140

          .         .         .         .         .         .       g.140840
 ttatttcttttagttgaaaaacacacaaaaacactaaacataaaagcacgttttgtggta       c.*1200

          .         .         .         .         .         .       g.140900
 cgccttggtttctagttctggatatatgtattaatcttaaagaatgatctaaagtcacag       c.*1260

          .         .         .         .         .         .       g.140960
 cttggcatataggaagatacttggttagaataggatgggtatcttttaagcagaactttg       c.*1320

          .         .         .         .         .         .       g.141020
 taagtaagttttaagttcctaagcaacaagtatacagtttgttaaggtttatattgaaca       c.*1380

          .         .         .         .         .         .       g.141080
 ttctaccttgcttgaggttttctgctttatcaaaactattcataatagaacatctacctg       c.*1440

          .         .         .         .         .         .       g.141140
 catcattactatcataatatggattattcataaagcgtatgtactgttcttctgagtcta       c.*1500

          .         .         .         .         .         .       g.141200
 acaaatactgtgactgaaatgcatgcaccttgttgaagagaaaacattttattaatctcc       c.*1560

          .         .         .         .         .         .       g.141260
 actataatgtctgtgaaatgtgcagtattccatccttagagagtttatctggttcatcag       c.*1620

          .         .         .         .         .         .       g.141320
 catctgcatgtatcctctgaataatgaagcaacatttcagcaattctgttaaccacacca       c.*1680

          .         .         .         .         .         .       g.141380
 ttagagacatttttagaagtgctgcaacatggtgggaacctagtactttaataatttcct       c.*1740

          .         .         .         .         .         .       g.141440
 atgatatttattagagcataaaatgtacatcacgatagtacagtatgtagtcctttaaga       c.*1800

          .         .         .         .         .         .       g.141500
 ccagaaggtatgttaactgcaccatcattaagcagtctatcctattttcttatttatttg       c.*1860

          .         .         .         .         .         .       g.141560
 ttagaattgaatcctttctcaatatctgtaccattcctatgatggtagccattcttctct       c.*1920

          .         .         .         .         .         .       g.141620
 ttataaaatatttcctctttgaaaagcgtcctaaaacattaatttcaaatcccctcttgg       c.*1980

          .         .         .         .         .         .       g.141680
 atgcaaagtgtccctaagaccatccattcaacagtatttatgtgagccaacttactagag       c.*2040

          .         .         .         .         .         .       g.141740
 ccgctacaactaatcatgatagacagtccagaatctccctggactttatactgggccagc       c.*2100

          .         .         .         .         .         .       g.141800
 ctcattgtccctaagatttctctttttatgtctcatggattacttctctttttaattgcc       c.*2160

          .         .         .         .         .         .       g.141860
 ccaggcacattccaaatgagaacctggtaaaagtcacattggacccccttcagtatgtct       c.*2220

          .         .         .         .         .         .       g.141920
 tcggctaatgtgttagccttcaataaggtgataaccccttttcaacctatctagtctata       c.*2280

          .         .         .         .         .         .       g.141980
 aagaggaaaaattcagatttggagttctaatcctatttctcccaaagggaactattcttc       c.*2340

          .         .         .         .         .         .       g.142040
 taccccatggttctaggagaccacttcactgtgcaacagttttacatgcattgtggatgg       c.*2400

          .         .         .         .         .         .       g.142100
 aggatatttttattctgaactgttacatttaggtaaaaatattttctgcagtggtaactg       c.*2460

          .         .         .         .         .         .       g.142160
 attagaaaaatgccaattggatgcccttaggtggaggtgagaaaatggcatccttgcctt       c.*2520

          .         .         .         .         .         .       g.142220
 cttctcaatatgaaacattaactagttgacaaatttatccttgtagtaatgaaaatctat       c.*2580

          .         .         .         .         .         .       g.142280
 ttaatcagggaccagaaatggctgaggagataaatgcatcattacaaaattctgcttttg       c.*2640

          .         .         .         .         .         .       g.142340
 aatcctggacattacaagggggtaaatgcagcatgactttttgttaaccacattccaaaa       c.*2700

          .         .         .         .         .         .       g.142400
 tgtggaacatttcttttagaaatgaaaatatttcaaggctgatgtattttaagactacac       c.*2760

          .         .         .         .         .         .       g.142460
 attatcaggaaacatacattgagagttcgcttaattaaaggttgttgggcatcaaattat       c.*2820

          .         .         .         .         .         .       g.142520
 gtttagtaggttactattctctaacaactcaaggatgctttaatggatctgaatttgaca       c.*2880

          .         .         .         .         .         .       g.142580
 aagagcatgccacactaatactacagtcaacaacagcccagagaacaattactatgtcag       c.*2940

          .         .         .         .         .         .       g.142640
 ctggaggctatattatgattctaaattcttaaaggtttttttccctccataaatcaaaaa       c.*3000

          .         .         .         .         .         .       g.142700
 ttaccttatgtaaaccaaaaattagttggtatttatggtcatgatcttaattctcaagtt       c.*3060

          .         .         .         .         .         .       g.142760
 tagcttaatcttgtatttcattgtttgtcttctaatatgacagcttaaattcagattttt       c.*3120

          .         .         .         .         .         .       g.142820
 aagtgactcagcaaaataggaggagtgtcccaatttattagtgttgtacatattgaagaa       c.*3180

          .         .         .         .         .         .       g.142880
 aacctttttgttccttcagatttagaaagaaacagtttaaccatttatttcttggtattc       c.*3240

          .         .         .         .         .         .       g.142940
 tgctgctgtgaataggtttacttattcttttaacatatattgtgtgactacgcaagtata       c.*3300

          .         .         .         .         .         .       g.143000
 ggtcctgttgtattgcattaatctttaccagtaactaaacatcacaaggttaatattggt       c.*3360

          .         .         .         .         .         .       g.143060
 ttggctgaaagaattatgcagtaaagttatttataagggaacatgatgactttattcaat       c.*3420

          .         .         .         .         .         .       g.143120
 atttttcttctttgaaacatctcattactaacttttaagattatttcataatcccttata       c.*3480

          .         .         .         .         .         .       g.143180
 catgagccaatgaaatattttgagctctacttaagaagcatgaagtctatattataaatc       c.*3540

          .         .         .         .         .         .       g.143240
 taaacaacaaaagcacttgtaacttgtttagtaaattccatgccttattttccatttttg       c.*3600

          .         .         .         .         .         .       g.143300
 acaccgtaaagtgcattttctgtcgactgtgagcaaatttcccttttgcctttaatgaaa       c.*3660

          .         .         .         .         .         .       g.143360
 atagtgcattaagtagccaattgctgcagaattataaagcaaattagctaacagtgggtc       c.*3720

          .         .         .         .         .         .       g.143420
 acattggactaccactcaaagaaacaagatgcataacagatgatggaaggtacatgtggt       c.*3780

          .         .         .         .         .         .       g.143480
 gtggcttagggagagcgcacctgtgccagatgcatgccactttcagtagctgccaaatgt       c.*3840

          .         .         .         .         .         .       g.143540
 gcctttaattaagaacatctctaatttttttcttcagatcaagtcagcatttggggtcgg       c.*3900

          .         .         .         .         .         .       g.143600
 gatttgggcagggaactttggggtgcaaatatctggtgaaaccaccagagaatttgtttg       c.*3960

          .         .         .         .         .         .       g.143660
 tcaaagtgacatgtataattttagttgagacgtgtttgtgtatatatgtgtatttgcctt       c.*4020

          .         .         .         .         .         .       g.143720
 tgtttagtagcacggttatttgctaaaataattgtcaaaaaattgctctgtcggtcggtc       c.*4080

          .         .         .         .         .         .       g.143780
 tttgatgtaagaacaaagtgtggtctatacatctaatatggcctttgtacctaaccatgt       c.*4140

          .         .         .         .         .         .       g.143840
 tcataggtaatctttgtactctgtgtgcagcagtatttggtttgcatttaaagtgaaaat       c.*4200

          .         .         .         .         .         .       g.143900
 aacggctgttatttttctggcattactaagataaactgaaaaataataaagaaaaatgcc       c.*4260

          .                                                         g.143915
 ttacatagcccacaa                                                    c.*4275

 (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 Son of sevenless homolog 1 (Drosophila) 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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