forkhead box P1 (FOXP1) - coding DNA reference sequence

(used for variant description)

(last modified January 16, 2013)


This file was created to facilitate the description of sequence variants on transcript NM_032682.5 in the FOXP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering FOXP1 transcript NM_032682.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5046
               ggggggtgggcgccagcgccccggcgaacggcaaagagggagccgc       c.-481

 .         .         .         .    | 02    .         .             g.7318
 tcccgctcggggggccgctggagtgcccagcggg | aacccgaaagtttgtaagaggaagag    c.-421

 .         .         .         .         .         .                g.7378
 agcgcgcggcgagcgagcgagcgggccgggggcagcggcagcggcgccggggaccatggt       c.-361

 .         .         .         .         .         .                g.7438
 gctgccggcgcctcctccgcgggcgtgaaggcggcgctcctactccctccccggactccg       c.-301

 .   | 03     .         .         .         .         .             g.95491
 cgg | tgtcccagaagcttttgttgacaattccagtttccgaacaaaacatttcggcaatgg    c.-241

 .         .         .         .         .         .                g.95551
 tgagggcttcgatcccttctctgatttgctgtcagccatgaacggatggatgtgatgcct       c.-181

 .         .   | 04     .         .         .         .             g.229792
 gctagccaaaagg | cttccctctgtgtgttgcagtcctgtggcattatgcatgccccctcc    c.-121

 .         .         .         .         .        | 05.             g.289121
 cagtgaccccaggctttttatggctgtgagacacgttaaaatttcagg | ggtaagacgtga    c.-61

 .         .         .         .         .         | 06             g.390608
 ccttttgaggtgactataactgaagattgctttacagaagccaaaaaag | gtttttgagtc    c.-1

          .         .         .         .         .         .       g.390668
 ATGATGCAAGAATCTGGGACTGAGACAAAAAGTAACGGTTCAGCCATCCAGAATGGGTCG       c.60
 M  M  Q  E  S  G  T  E  T  K  S  N  G  S  A  I  Q  N  G  S         p.20

          .         .         .         .         .         .       g.390728
 GGCGGCAGCAACCACTTACTAGAGTGCGGCGGTCTTCGGGAGGGGCGGTCCAACGGAGAG       c.120
 G  G  S  N  H  L  L  E  C  G  G  L  R  E  G  R  S  N  G  E         p.40

          .         .         .         .         .         .       g.390788
 ACGCCGGCCGTGGACATCGGGGCAGCTGACCTCGCCCACGCCCAGCAGCAGCAGCAACAG       c.180
 T  P  A  V  D  I  G  A  A  D  L  A  H  A  Q  Q  Q  Q  Q  Q         p.60

  | 07       .         .         .         .         .         .    g.476412
  | GCACTTCAGGTGGCAAGACAGCTCCTTCTTCAGCAGCAACAGCAGCAGCAAGTTAGTGGA    c.240
  | A  L  Q  V  A  R  Q  L  L  L  Q  Q  Q  Q  Q  Q  Q  V  S  G      p.80

          .         .         .         .   | 08     .         .    g.535234
 TTAAAATCTCCCAAGAGGAATGACAAACAACCAGCTCTTCAG | GTTCCCGTGTCAGTGGCT    c.300
 L  K  S  P  K  R  N  D  K  Q  P  A  L  Q   | V  P  V  S  V  A      p.100

          .         .         .         .         .         .       g.535294
 ATGATGACACCTCAAGTTATCACTCCCCAGCAAATGCAGCAGATCCTCCAGCAACAAGTG       c.360
 M  M  T  P  Q  V  I  T  P  Q  Q  M  Q  Q  I  L  Q  Q  Q  V         p.120

          .         .         .         .         .         .       g.535354
 CTGAGCCCTCAGCAGCTCCAGGTTCTCCTCCAGCAGCAGCAGGCCCTCATGCTTCAACAG       c.420
 L  S  P  Q  Q  L  Q  V  L  L  Q  Q  Q  Q  A  L  M  L  Q  Q         p.140

  | 09       .         .         .         .         .         .    g.536423
  | CAGCAGCTTCAAGAGTTTTATAAAAAACAACAGGAACAGTTGCAGCTTCAACTTTTACAA    c.480
  | Q  Q  L  Q  E  F  Y  K  K  Q  Q  E  Q  L  Q  L  Q  L  L  Q      p.160

          .         .         . | 10       .         .         .    g.541924
 CAACAACATGCTGGAAAACAGCCTAAAGAG | CAACAGCAGGTGGCTACCCAGCAGTTGGCT    c.540
 Q  Q  H  A  G  K  Q  P  K  E   | Q  Q  Q  V  A  T  Q  Q  L  A      p.180

          .         .         .         .         .         .       g.541984
 TTTCAGCAGCAGCTTTTACAGATGCAGCAGTTACAGCAGCAGCACCTCCTGTCTTTGCAG       c.600
 F  Q  Q  Q  L  L  Q  M  Q  Q  L  Q  Q  Q  H  L  L  S  L  Q         p.200

          .         .         .         .         .         .       g.542044
 CGCCAAGGCCTTCTGACAATTCAGCCCGGGCAGCCTGCCCTTCCCCTTCAACCTCTTGCT       c.660
 R  Q  G  L  L  T  I  Q  P  G  Q  P  A  L  P  L  Q  P  L  A         p.220

      | 11   .         .         .         .         .         .    g.547513
 CAAG | GCATGATTCCAACAGAACTGCAGCAGCTCTGGAAAGAAGTGACAAGTGCTCATACT    c.720
 Q  G |   M  I  P  T  E  L  Q  Q  L  W  K  E  V  T  S  A  H  T      p.240

          .         .         .         .         .         .       g.547573
 GCAGAAGAAACCACAGGCAACAATCACAGCAGTTTGGATCTGACCACGACATGTGTCTCC       c.780
 A  E  E  T  T  G  N  N  H  S  S  L  D  L  T  T  T  C  V  S         p.260

          .         .         .         .         .         .       g.547633
 TCCTCTGCACCTTCCAAGACCTCCTTAATAATGAACCCACATGCCTCTACCAATGGACAG       c.840
 S  S  A  P  S  K  T  S  L  I  M  N  P  H  A  S  T  N  G  Q         p.280

          .         .          | 12        .         .         .    g.573367
 CTCTCAGTCCACACTCCCAAAAGGGAAAG | TTTGTCCCATGAGGAGCACCCCCATAGCCAT    c.900
 L  S  V  H  T  P  K  R  E  S  |  L  S  H  E  E  H  P  H  S  H      p.300

          .         .         .         .         .         .       g.573427
 CCTCTCTATGGACATGGTGTATGCAAGTGGCCAGGCTGTGAAGCAGTGTGCGAAGATTTC       c.960
 P  L  Y  G  H  G  V  C  K  W  P  G  C  E  A  V  C  E  D  F         p.320

          .     | 13   .         .         .         .         .    g.587976
 CAATCATTTCTAAA | ACATCTCAACAGTGAGCATGCGCTGGACGATAGAAGTACAGCCCAA    c.1020
 Q  S  F  L  K  |  H  L  N  S  E  H  A  L  D  D  R  S  T  A  Q      p.340

          .         .         .         .   | 14     .         .    g.600930
 TGTAGAGTACAAATGCAGGTTGTACAGCAGTTAGAGCTACAG | CTTGCAAAAGACAAAGAA    c.1080
 C  R  V  Q  M  Q  V  V  Q  Q  L  E  L  Q   | L  A  K  D  K  E      p.360

          .         .         .         .         .         .       g.600990
 CGCCTGCAAGCCATGATGACCCACCTGCATGTGAAGTCTACAGAACCCAAAGCCGCCCCT       c.1140
 R  L  Q  A  M  M  T  H  L  H  V  K  S  T  E  P  K  A  A  P         p.380

        | 15 .         .         .         .         .         .    g.611014
 CAGCCC | TTGAATCTGGTATCAAGTGTCACTCTCTCCAAGTCCGCATCGGAGGCTTCTCCA    c.1200
 Q  P   | L  N  L  V  S  S  V  T  L  S  K  S  A  S  E  A  S  P      p.400

          .         .         .         .         .         .       g.611074
 CAGAGCTTACCTCATACTCCAACGACCCCAACCGCCCCCCTGACTCCCGTCACCCAAGGC       c.1260
 Q  S  L  P  H  T  P  T  T  P  T  A  P  L  T  P  V  T  Q  G         p.420

          .         .         .         .         .         .       g.611134
 CCCTCTGTCATCACAACCACCAGCATGCACACGGTGGGACCCATCCGCAGGCGGTACTCA       c.1320
 P  S  V  I  T  T  T  S  M  H  T  V  G  P  I  R  R  R  Y  S         p.440

          .         .         | 16         .         .         .    g.611299
 GACAAATACAACGTGCCCATTTCGTCAG | CAGATATTGCGCAGAACCAAGAATTTTATAAG    c.1380
 D  K  Y  N  V  P  I  S  S  A |   D  I  A  Q  N  Q  E  F  Y  K      p.460

          .         .         .         .         | 17         .    g.611959
 AACGCAGAAGTTAGACCACCATTTACATATGCATCTTTAATTAGGCAG | GCCATTCTCGAA    c.1440
 N  A  E  V  R  P  P  F  T  Y  A  S  L  I  R  Q   | A  I  L  E      p.480

          .         .         .         .         .         .       g.612019
 TCTCCAGAAAAGCAGCTAACACTAAATGAGATCTATAACTGGTTCACACGAATGTTTGCT       c.1500
 S  P  E  K  Q  L  T  L  N  E  I  Y  N  W  F  T  R  M  F  A         p.500

          .         .         . | 18       .         .         .    g.616343
 TACTTCCGACGCAACGCGGCCACGTGGAAG | AATGCAGTGCGTCATAATCTTAGTCTTCAC    c.1560
 Y  F  R  R  N  A  A  T  W  K   | N  A  V  R  H  N  L  S  L  H      p.520

          .         .         .         .         .         .       g.616403
 AAGTGTTTTGTGCGAGTAGAAAACGTTAAAGGGGCAGTATGGACAGTGGATGAAGTAGAA       c.1620
 K  C  F  V  R  V  E  N  V  K  G  A  V  W  T  V  D  E  V  E         p.540

          .         .         .   | 19     .         .         .    g.618212
 TTCCAAAAACGAAGGCCACAAAAGATCAGTGG | TAACCCTTCCCTTATTAAAAACATGCAG    c.1680
 F  Q  K  R  R  P  Q  K  I  S  G  |  N  P  S  L  I  K  N  M  Q      p.560

          .         .         .         .   | 20     .         .    g.622951
 AGCAGCCACGCCTACTGCACACCTCTCAATGCAGCTTTACAG | GCTTCAATGGCTGAGAAT    c.1740
 S  S  H  A  Y  C  T  P  L  N  A  A  L  Q   | A  S  M  A  E  N      p.580

          .         .         .         .         .         .       g.623011
 AGTATACCTCTATACACTACCGCTTCCATGGGAAATCCCACTCTGGGCAACTTAGCCAGC       c.1800
 S  I  P  L  Y  T  T  A  S  M  G  N  P  T  L  G  N  L  A  S         p.600

          .         .         .         .         .         .       g.623071
 GCAATACGGGAAGAGCTGAACGGGGCAATGGAGCATACCAACAGCAACGAGAGTGACAGC       c.1860
 A  I  R  E  E  L  N  G  A  M  E  H  T  N  S  N  E  S  D  S         p.620

          .         .          | 21        .         .         .    g.629629
 AGTCCAGGCAGATCTCCTATGCAAGCCGT | GCATCCTGTACACGTCAAAGAAGAGCCCCTC    c.1920
 S  P  G  R  S  P  M  Q  A  V  |  H  P  V  H  V  K  E  E  P  L      p.640

          .         .         .         .         .         .       g.629689
 GATCCAGAGGAAGCTGAAGGGCCCCTGTCCTTAGTGACAACAGCCAACCACAGTCCAGAT       c.1980
 D  P  E  E  A  E  G  P  L  S  L  V  T  T  A  N  H  S  P  D         p.660

          .         .         .         .         .                 g.629743
 TTTGACCATGACAGAGATTACGAAGATGAACCAGTAAACGAGGACATGGAGTGA             c.2034
 F  D  H  D  R  D  Y  E  D  E  P  V  N  E  D  M  E  X               p.677

          .         .         .         .         .         .       g.629803
 ctatcggggcgggccaaccccgagaatgaagattggaaaaaggaaaaaaaaaaaaacacg       c.*60

          .         .         .         .         .         .       g.629863
 tcaaaagttagcagtgaaattgttctccatttgttgtacagtctggaggattttcactac       c.*120

          .         .         .         .         .         .       g.629923
 gttttgacaactctgaaatgtgttaactcttagtgccatcaagaaccccatttgggagta       c.*180

          .         .         .         .         .         .       g.629983
 tttttgatttttctactttttgttgaaaaaaggaatttgtactctgtgcattggatggac       c.*240

          .         .         .         .         .         .       g.630043
 ttgtttggtacttgggattttcctctcttaaccgtcaacatcagtgttgtaaatttgcta       c.*300

          .         .         .         .         .         .       g.630103
 aactgattcacttttagcagcagactttgaactgcagtcctgccaacgttggacactgag       c.*360

          .         .         .         .         .         .       g.630163
 gacgcccgacagagcttgtgcacctaagctgcagaccaagcctttgcccagaatttaagg       c.*420

          .         .         .         .         .         .       g.630223
 attccaatggacgacctatttgcacagtactgcatgttgattatcactgcctttactcct       c.*480

          .         .         .         .         .         .       g.630283
 tttttttttttttttttttttttttttttgcttccagttgggatggggaaggcctttgtg       c.*540

          .         .         .         .         .         .       g.630343
 tgtgtattggggggaggggttaaaaaataattatcccaaactttttaatgtattgctttt       c.*600

          .         .         .         .         .         .       g.630403
 tttttttttttttttccttctactataccattttaagttctgacctcaggcctccatttg       c.*660

          .         .         .         .         .         .       g.630463
 ggccgatggcctcttggaggcttaaagttttctgtaccttgtgatgaatgttaataggtg       c.*720

          .         .         .         .         .         .       g.630523
 tttttattatacaaagctgaatgtcatttctcgtttgtagctttctgtcactcattccat       c.*780

          .         .         .         .         .         .       g.630583
 cttccttcagacatcaccacgtttctctaaagtcagaaaacattccgttttggtcttttt       c.*840

          .         .         .         .         .         .       g.630643
 caaaaaggtcccaaatgctgcactctacacatgaaggccctctcacacagacgtgacgtc       c.*900

          .         .         .         .         .         .       g.630703
 ctgccagaaagagaatgaatgacagaaaaaaaaaagagagacaaactctaggaacaatgc       c.*960

          .         .         .         .         .         .       g.630763
 cgattcattccacgcagcagtattgggggtggttcgggggaggggtgtttcggattttct       c.*1020

          .         .         .         .         .         .       g.630823
 ttttttcttttcttttctttttttttttttgcagcaaccattaataaatgccaccacatt       c.*1080

          .         .         .         .         .         .       g.630883
 ctaccagcacaaggaaacataggcagcactgaaaaaaaaaaaaaagctcatattaattag       c.*1140

          .         .         .         .         .         .       g.630943
 actgacaatatggccttggaaggctctcccttgtggaaccaagttgccatgggccttggg       c.*1200

          .         .         .         .         .         .       g.631003
 tgctctgcgataacgggtgtgggttggttttgtttgcaaaatggccaaaaaaaaaaaccg       c.*1260

          .         .         .         .         .         .       g.631063
 gcttccccgagcagctgccctgaaagtaggggtggcggcggcggcgctgagtttatacat       c.*1320

          .         .         .         .         .         .       g.631123
 tagttcagacctacttggtggcattaaactgtttgaatgcaaattcgatttcagattgaa       c.*1380

          .         .         .         .         .         .       g.631183
 cttgttaagggagttaacgagggctgagttcagcaaatgctaaagtgttaatttcaaata       c.*1440

          .         .         .         .         .         .       g.631243
 tgcaaatttggtactgcagtttgttatgcaatattatatcaccaacccagtatcacaaaa       c.*1500

          .         .         .         .         .         .       g.631303
 actcatagaagatatcatgtaggccctgggctttgggggggtcccaaacatggtatgcag       c.*1560

          .         .         .         .         .         .       g.631363
 aaatgtgatggttacaggtcagtacaacctcagtccttagaacccctccacacttcagct       c.*1620

          .         .         .         .         .         .       g.631423
 ctgcacccactttcctgtcatttatttatataggactgtagttttttttagttcgagagc       c.*1680

          .         .         .         .         .         .       g.631483
 ctttcgaagcttaatttatattctttctttgtaccttttttctaaaattaccaaagatat       c.*1740

          .         .         .         .         .         .       g.631543
 tacacaaaggtaaattatgttctctgttttatgctttatctgatgaagccaaatatcctc       c.*1800

          .         .         .         .         .         .       g.631603
 ttattgttgatcaaaggaggcaaaagaatttagaggcaaatgacaagcgataggctattg       c.*1860

          .         .         .         .         .         .       g.631663
 caacctgagaaagagaactgctccttcatcgtaaatttagaagaccaagtagataatgga       c.*1920

          .         .         .         .         .         .       g.631723
 accaaagttgttacttttttctagtagttatttttcctttttctttttgtgtacctctac       c.*1980

          .         .         .         .         .         .       g.631783
 agagaccaaaactcattctcttaaagagattttatggggctactgcagataaaaatagga       c.*2040

          .         .         .         .         .         .       g.631843
 cacaatattaaaggagctacagaaggaagggagtcccatctcaaaaaaaaaatgaatgta       c.*2100

          .         .         .         .         .         .       g.631903
 tgccactgcaattagagtatccaataaaggagacagtttagagtcaggacagaaaagctt       c.*2160

          .         .         .         .         .         .       g.631963
 ccataattgaactagattacataatagtatttctagaaaaagagatatttttagattgta       c.*2220

          .         .         .         .         .         .       g.632023
 tgccacttttgtttaagaactgtgctgtgatcactgtattaattttggtttatcttggca       c.*2280

          .         .         .         .         .         .       g.632083
 tatatccttcagtttgtttttatttttaatttttcctttttttccgattaggctttggtc       c.*2340

          .         .         .         .         .         .       g.632143
 agcatttttcatttaaagaaaagtaacactcccatccactcataagcttggtacaaaaac       c.*2400

          .         .         .         .         .         .       g.632203
 ttctctggcagttacttttgaagcttcactctgctttctgtataaagggcagtctgtggt       c.*2460

          .         .         .         .         .         .       g.632263
 cacgcaagactttaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaacttttc       c.*2520

          .         .         .         .         .         .       g.632323
 caggcagcttcatgatgtgcaggcagtagccagacagggtcatgggaagggggccctgtg       c.*2580

          .         .         .         .         .         .       g.632383
 cttctaaactgagtggttgctggttagtttggtattcaaaagaggataaaaatctggtag       c.*2640

          .         .         .         .         .         .       g.632443
 attagttcattctcagcatgtgtagctagacatgagtaaagataacagcatgagaaactg       c.*2700

          .         .         .         .         .         .       g.632503
 ttagtacgcatacctcagttcaaacctttagggaatgattaaaatttaaaaaaaaaacat       c.*2760

          .         .         .         .         .         .       g.632563
 ttcactcagttgcacttagtcgtatgtcttgcatgcttagtctaaagactgtagcaaaaa       c.*2820

          .         .         .         .         .         .       g.632623
 aaaaaaaaaaagaaaaattagattttacatatctttgcaggtatcacagccttgcagaag       c.*2880

          .         .         .         .         .         .       g.632683
 aaccaactgaaaaaaaaattctcaggctttacagcaagcaaacttcactatgatttttac       c.*2940

          .         .         .         .         .         .       g.632743
 aattctgattctgtatcccctgggggttatcccagttgcttctttaggatggggtttatt       c.*3000

          .         .         .         .         .         .       g.632803
 acgttgtacatatatcccgatgtgtctgtgtgaatctttgtcttttttgggggagggcag       c.*3060

          .         .         .         .         .         .       g.632863
 agggcggttctttttttagatattgttcctaaaaaggaataaatgcatacacctgtttgt       c.*3120

          .         .         .         .         .         .       g.632923
 caaaacacctttgctttttgtgcaactgctttatattaacgatactaaaaaaaaatagct       c.*3180

          .         .         .         .         .         .       g.632983
 ttggaaaaaaaactactgtatgtaacggaattgcagaatatgctgcacatgtattttatt       c.*3240

          .         .         .         .         .         .       g.633043
 tagttatccttgctttaagaatattggatgacatttcctgacatgtgggagggagaaact       c.*3300

          .         .         .         .         .         .       g.633103
 ccctaactttttttttctgcttttaaactgtaacatagttgaagatttcttttttctgtt       c.*3360

          .         .         .         .         .         .       g.633163
 ctcattgattggagcattttgtacaggttttgtgtgtgtgtgtgtgtgtgtgtgcgcgcg       c.*3420

          .         .         .         .         .         .       g.633223
 tgcgtgtgtgttaatctgttttttgatacattcctatcccttgtgtttatcctaccactg       c.*3480

          .         .         .         .         .         .       g.633283
 ccttcctggctatcttaaacaagttcatacatttgaaaagaaaaaaaaatgttgtttaaa       c.*3540

          .         .         .         .         .         .       g.633343
 aaatgttttctcctgctgcagtaaatattttgcatgatgaaattccagggtcacactttt       c.*3600

          .         .         .         .         .         .       g.633403
 ccaagtttatcagtgaagtagtgattaacaatggggagtgtcaaaactattgaacttttg       c.*3660

          .         .         .         .         .         .       g.633463
 tataaaaaaaaaaaaactttacaaggtgccaagatgtaaagaaaatctgttacttttttt       c.*3720

          .         .         .         .         .         .       g.633523
 ttctcaaagaaaagcatacattagggaggtagtcccgtgtgtcagacaaatgcactgtca       c.*3780

          .         .         .         .         .         .       g.633583
 ggaatgaggatccaacctacctgtccctagagtccgtcttgtaagatgagttaggctgcc       c.*3840

          .         .         .         .         .         .       g.633643
 ccttggaccagccacaaaatggaatatcaaggcttatgtacatacgtgaagagttaccac       c.*3900

          .         .         .         .         .         .       g.633703
 cagtcctgccacctttggacagctctaacaccatccccagcatccagtcagacctagtaa       c.*3960

          .         .         .         .         .         .       g.633763
 agaaaaccttggattcttaacccaagataggctgtaaatcactagcttttttttcctcat       c.*4020

          .         .         .         .         .         .       g.633823
 gaaaaaaaatagagttaaaaaatatttcctctcttttccatattccagctgaactccgtt       c.*4080

          .         .         .         .         .         .       g.633883
 tccaaaggcacaaagaagagtgtgcttattcagattttgaatctttttggtaccttttgg       c.*4140

          .         .         .         .         .         .       g.633943
 ttaatgacatagcctcctgaaattctggatgtcttcaaagtcagttttgcttctttatcc       c.*4200

          .         .         .         .         .         .       g.634003
 tgaaaatcagatttacaatgctgaaggcatttcttgggcccagtgtagctcacgcaatct       c.*4260

          .         .         .         .         .         .       g.634063
 ctgctacccataagccttgatgaagatgatacagtccggactgtgagcatggtgcttcat       c.*4320

          .         .         .         .         .         .       g.634123
 gtatatgtgctgccagtaacaagaatttttttgttttgttttgttttgttttgataaggc       c.*4380

          .         .         .         .         .         .       g.634183
 ataaaagaaactcattccttgacatcaactgtaattccatcattccatgtctgcggatac       c.*4440

          .         .         .         .         .         .       g.634243
 agacaataaaaaaaatgttgtgtagtcagtactaattactgacattataagcattctcaa       c.*4500

          .         .         .                                     g.634276
 atgcaataaaaatgctggttgttcacgctggta                                  c.*4533

 (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 Forkhead box P1 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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