fibrillin 1 (FBN1) - coding DNA reference sequence

(used for variant description)

(last modified October 30, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_000138.4 in the FBN1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008805.2, covering FBN1 transcript NM_000138.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5035
                          agtatttctctcgcgagaaaccgctgcgcggacga       c.-361

 .         .         .         .         .         .                g.5095
 tacttgaagaggtggggaaaggagggggctgcgggagccgcggcagagactgtgggtgcc       c.-301

 .         .         .         .         .         .                g.5155
 acaagcggacaggagccacagctgggacagctgcgagcggagccgagcagtggctgtagc       c.-241

 .         .         .         .         .         .         | 02    g.5839
 ggccacgactgggagcagccgccgccgcctcctcgggagtcggagccgccgcttctcca | c    c.-181

 .         .         .         .         .         .                g.5899
 tggcaggggccgcctgaagtgggagcagcgcctggagaaggcgggaggagcccggcccgg       c.-121

 .         .         .         .         .         .                g.5959
 gggacgggcggcgggatagcgggaccccggcggcgcggtgcgcttcagggcgcagcggcg       c.-61

 .         .         .         .         .         .                g.6019
 gccgcagaccgagccccgggcgcggcaagaggcggcgggagccggtggcggctcggcatc       c.-1

          .         .         .         .         .         .       g.6079
 ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTAC       c.60
 M  R  R  G  R  L  L  E  I  A  L  G  F  T  V  L  L  A  S  Y         p.20

          .         .         .         .         .         .       g.6139
 ACGAGCCATGGGGCGGACGCCAATTTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGT       c.120
 T  S  H  G  A  D  A  N  L  E  A  G  N  V  K  E  T  R  A  S         p.40

          .         .         .         .     | 03   .         .    g.37712
 CGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGG | ACCCAATGTCTGTGGA    c.180
 R  A  K  R  R  G  G  G  G  H  D  A  L  K  G  |  P  N  V  C  G      p.60

          .         .         .         .         .         .       g.37772
 TCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGT       c.240
 S  R  Y  N  A  Y  C  C  P  G  W  K  T  L  P  G  G  N  Q  C         p.80

         | 04.         .         .         .         .         .    g.40015
 ATTGTCC | CCATTTGCCGGCATTCCTGTGGGGATGGATTTTGTTCGAGGCCAAATATGTGC    c.300
 I  V  P |   I  C  R  H  S  C  G  D  G  F  C  S  R  P  N  M  C      p.100

          .         .         .         .       | 05 .         .    g.50568
 ACTTGCCCATCTGGTCAGATAGCTCCTTCCTGTGGCTCCAGATCCA | TACAACACTGCAAT    c.360
 T  C  P  S  G  Q  I  A  P  S  C  G  S  R  S  I |   Q  H  C  N      p.120

          .         .         .         .         .         .       g.50628
 ATTCGCTGTATGAATGGAGGTAGCTGCAGTGACGATCACTGTCTATGCCAGAAAGGATAC       c.420
 I  R  C  M  N  G  G  S  C  S  D  D  H  C  L  C  Q  K  G  Y         p.140

          .         .   | 06     .         .         .         .    g.54448
 ATAGGGACTCACTGTGGACAAC | CTGTTTGTGAAAGTGGCTGTCTCAATGGAGGAAGGTGT    c.480
 I  G  T  H  C  G  Q  P |   V  C  E  S  G  C  L  N  G  G  R  C      p.160

          .         .         .         .         .         | 07    g.112982
 GTGGCCCCAAATCGATGTGCATGCACTTACGGATTTACTGGACCCCAGTGTGAAAGAG | AT    c.540
 V  A  P  N  R  C  A  C  T  Y  G  F  T  G  P  Q  C  E  R  D |       p.180

          .         .         .         .         .         .       g.113042
 TACAGGACAGGCCCATGTTTTACTGTGATCAGCAACCAGATGTGCCAGGGACAACTCAGC       c.600
 Y  R  T  G  P  C  F  T  V  I  S  N  Q  M  C  Q  G  Q  L  S         p.200

          .         .         .         .         .         .       g.113102
 GGGATTGTCTGCACAAAAACGCTCTGCTGTGCCACAGTCGGCCGAGCCTGGGGCCACCCC       c.660
 G  I  V  C  T  K  T  L  C  C  A  T  V  G  R  A  W  G  H  P         p.220

          .         .         .         .         .         .       g.113162
 TGTGAGATGTGTCCTGCCCAGCCTCACCCCTGCCGCCGTGGCTTCATTCCAAATATCCGC       c.720
 C  E  M  C  P  A  Q  P  H  P  C  R  R  G  F  I  P  N  I  R         p.240

          .       | 08 .         .         .         .         .    g.116627
 ACGGGAGCTTGTCAAG | ATGTGGATGAATGCCAGGCCATCCCCGGGCTCTGTCAGGGAGGA    c.780
 T  G  A  C  Q  D |   V  D  E  C  Q  A  I  P  G  L  C  Q  G  G      p.260

          .         .         .         .         .         .       g.116687
 AATTGCATTAATACTGTTGGGTCTTTTGAGTGCAAATGCCCTGCTGGACACAAACTTAAT       c.840
 N  C  I  N  T  V  G  S  F  E  C  K  C  P  A  G  H  K  L  N         p.280

          .         .   | 09     .         .         .         .    g.124571
 GAAGTGTCACAAAAATGTGAAG | ATATTGATGAATGCAGCACCATTCCTGGAATCTGTGAA    c.900
 E  V  S  Q  K  C  E  D |   I  D  E  C  S  T  I  P  G  I  C  E      p.300

          .         .         .         .         .         .       g.124631
 GGGGGTGAATGTACAAACACAGTCAGCAGTTACTTTTGCAAATGTCCCCCTGGTTTTTAC       c.960
 G  G  E  C  T  N  T  V  S  S  Y  F  C  K  C  P  P  G  F  Y         p.320

          .         .         | 10         .         .         .    g.130003
 ACCTCTCCAGATGGTACCAGATGCATAG | ATGTTCGCCCAGGATACTGTTACACAGCTCTG    c.1020
 T  S  P  D  G  T  R  C  I  D |   V  R  P  G  Y  C  Y  T  A  L      p.340

          .         .         .         .         .         .       g.130063
 ACAAACGGGCGCTGCTCTAACCAGCTGCCACAGTCCATAACCAAAATGCAGTGCTGCTGT       c.1080
 T  N  G  R  C  S  N  Q  L  P  Q  S  I  T  K  M  Q  C  C  C         p.360

          .         .         .         .         .         .       g.130123
 GATGCCGGCCGATGCTGGTCTCCAGGGGTCACTGTCGCCCCTGAGATGTGTCCCATCAGA       c.1140
 D  A  G  R  C  W  S  P  G  V  T  V  A  P  E  M  C  P  I  R         p.380

         | 11.         .         .         .         .         .    g.134479
 GCAACCG | AGGATTTCAACAAGCTGTGCTCTGTTCCTATGGTAATTCCTGGGAGACCAGAA    c.1200
 A  T  E |   D  F  N  K  L  C  S  V  P  M  V  I  P  G  R  P  E      p.400

          .         .         .         .         .         .       g.134539
 TATCCTCCCCCACCCCTTGGCCCCATTCCTCCAGTTCTCCCTGTTCCTCCTGGCTTTCCT       c.1260
 Y  P  P  P  P  L  G  P  I  P  P  V  L  P  V  P  P  G  F  P         p.420

          .         .         .         .         .         .       g.134599
 CCTGGACCTCAAATTCCGGTCCCTCGACCACCAGTGGAATATCTGTATCCATCTCGGGAG       c.1320
 P  G  P  Q  I  P  V  P  R  P  P  V  E  Y  L  Y  P  S  R  E         p.440

         | 12.         .         .         .         .         .    g.135314
 CCACCAA | GGGTGCTGCCAGTAAACGTTACTGATTACTGCCAGTTGGTCCGCTATCTCTGT    c.1380
 P  P  R |   V  L  P  V  N  V  T  D  Y  C  Q  L  V  R  Y  L  C      p.460

          .         .         .         .         .         .       g.135374
 CAAAATGGACGCTGCATTCCAACTCCTGGGAGTTACCGGTGTGAGTGCAACAAAGGGTTC       c.1440
 Q  N  G  R  C  I  P  T  P  G  S  Y  R  C  E  C  N  K  G  F         p.480

          .         .         | 13         .         .         .    g.137152
 CAGCTGGACCTCCGTGGGGAGTGTATTG | ATGTTGATGAATGTGAGAAAAACCCCTGTGCT    c.1500
 Q  L  D  L  R  G  E  C  I  D |   V  D  E  C  E  K  N  P  C  A      p.500

          .         .         .         .         .         .       g.137212
 GGTGGTGAGTGTATTAACAACCAGGGTTCGTACACCTGTCAGTGCCGAGCTGGATATCAG       c.1560
 G  G  E  C  I  N  N  Q  G  S  Y  T  C  Q  C  R  A  G  Y  Q         p.520

          .         .         | 14         .         .         .    g.140651
 AGCACACTCACGCGGACAGAATGCCGAG | ACATTGATGAGTGTTTACAGAATGGCCGGATC    c.1620
 S  T  L  T  R  T  E  C  R  D |   I  D  E  C  L  Q  N  G  R  I      p.540

          .         .         .         .         .         .       g.140711
 TGCAATAATGGACGCTGCATCAACACAGATGGCAGTTTTCATTGCGTGTGTAATGCGGGC       c.1680
 C  N  N  G  R  C  I  N  T  D  G  S  F  H  C  V  C  N  A  G         p.560

          .         .         .     | 15   .         .         .    g.142110
 TTTCATGTTACACGAGATGGGAAGAACTGTGAAG | ATATGGATGAATGCAGCATAAGGAAC    c.1740
 F  H  V  T  R  D  G  K  N  C  E  D |   M  D  E  C  S  I  R  N      p.580

          .         .         .         .         .         .       g.142170
 ATGTGCCTTAATGGAATGTGTATCAATGAAGATGGCAGTTTTAAATGTATTTGCAAACCT       c.1800
 M  C  L  N  G  M  C  I  N  E  D  G  S  F  K  C  I  C  K  P         p.600

          .         .         .        | 16.         .         .    g.145664
 GGATTCCAGCTGGCATCAGATGGACGTTATTGCAAAG | ACATTAACGAGTGTGAAACCCCT    c.1860
 G  F  Q  L  A  S  D  G  R  Y  C  K  D |   I  N  E  C  E  T  P      p.620

          .         .         .         .         .         .       g.145724
 GGGATCTGCATGAATGGGCGTTGCGTCAACACTGATGGCTCCTACAGATGTGAATGCTTC       c.1920
 G  I  C  M  N  G  R  C  V  N  T  D  G  S  Y  R  C  E  C  F         p.640

          .         .         .         . | 17       .         .    g.146869
 CCTGGACTGGCTGTGGGTCTGGATGGCCGTGTGTGTGTTG | ACACACACATGCGGAGCACA    c.1980
 P  G  L  A  V  G  L  D  G  R  V  C  V  D |   T  H  M  R  S  T      p.660

          .         .         .         .         .         .       g.146929
 TGCTATGGTGGATACAAGAGAGGCCAGTGTATCAAACCTTTGTTTGGTGCTGTCACTAAA       c.2040
 C  Y  G  G  Y  K  R  G  Q  C  I  K  P  L  F  G  A  V  T  K         p.680

          .         .         .         .         .         .       g.146989
 TCTGAATGCTGTTGCGCCAGCACTGAGTATGCATTTGGGGAACCTTGCCAGCCGTGTCCT       c.2100
 S  E  C  C  C  A  S  T  E  Y  A  F  G  E  P  C  Q  P  C  P         p.700

          .    | 18    .         .         .         .         .    g.151797
 GCACAGAATTCAG | CGGAATATCAGGCACTCTGCAGCAGTGGGCCAGGAATGACGTCAGCA    c.2160
 A  Q  N  S  A |   E  Y  Q  A  L  C  S  S  G  P  G  M  T  S  A      p.720

         | 19.         .         .         .         .         .    g.153450
 GGCAGTG | ATATAAATGAATGTGCACTAGATCCTGATATTTGCCCAAATGGAATCTGTGAA    c.2220
 G  S  D |   I  N  E  C  A  L  D  P  D  I  C  P  N  G  I  C  E      p.740

          .         .         .         .         .         .       g.153510
 AACCTTCGTGGGACCTATAAATGTATATGCAATTCAGGATATGAAGTGGATTCAACTGGG       c.2280
 N  L  R  G  T  Y  K  C  I  C  N  S  G  Y  E  V  D  S  T  G         p.760

          .    | 20    .         .         .         .         .    g.154610
 AAAAACTGCGTTG | ATATTAATGAATGTGTACTGAACAGTCTCCTTTGTGACAATGGACAA    c.2340
 K  N  C  V  D |   I  N  E  C  V  L  N  S  L  L  C  D  N  G  Q      p.780

          .         .         .         .         .         .       g.154670
 TGTAGAAATACTCCTGGAAGTTTTGTCTGTACCTGCCCCAAGGGATTTATCTACAAACCT       c.2400
 C  R  N  T  P  G  S  F  V  C  T  C  P  K  G  F  I  Y  K  P         p.800

          .          | 21        .         .         .         .    g.155241
 GATCTAAAAACATGTGAAG | ACATTGATGAATGCGAATCAAGTCCTTGCATTAATGGAGTC    c.2460
 D  L  K  T  C  E  D |   I  D  E  C  E  S  S  P  C  I  N  G  V      p.820

          .         .         .         .         .         .       g.155301
 TGCAAGAACAGCCCAGGCTCTTTTATTTGTGAATGTTCTTCTGAAAGTACTTTGGATCCA       c.2520
 C  K  N  S  P  G  S  F  I  C  E  C  S  S  E  S  T  L  D  P         p.840

          .          | 22        .         .         .         .    g.155569
 ACAAAAACCATCTGCATAG | AAACCATCAAGGGCACTTGCTGGCAGACTGTCATTGATGGG    c.2580
 T  K  T  I  C  I  E |   T  I  K  G  T  C  W  Q  T  V  I  D  G      p.860

          .         .         .         .         .         .       g.155629
 CGATGTGAGATCAACATCAATGGAGCCACCTTAAAGTCCCAGTGCTGCTCCTCCCTCGGT       c.2640
 R  C  E  I  N  I  N  G  A  T  L  K  S  Q  C  C  S  S  L  G         p.880

          .         .         .        | 23.         .         .    g.156557
 GCTGCGTGGGGAAGCCCGTGCACCCTATGCCAAGTTG | ATCCCATATGTGGTAAAGGGTAC    c.2700
 A  A  W  G  S  P  C  T  L  C  Q  V  D |   P  I  C  G  K  G  Y      p.900

          .         .         | 24         .         .         .    g.158234
 TCAAGAATTAAAGGAACACAATGTGAAG | ATATAGATGAATGTGAAGTGTTCCCAGGAGTG    c.2760
 S  R  I  K  G  T  Q  C  E  D |   I  D  E  C  E  V  F  P  G  V      p.920

          .         .         .         .         .         .       g.158294
 TGTAAAAATGGCCTGTGTGTTAACACTAGGGGGTCATTCAAGTGTCAGTGTCCCAGTGGA       c.2820
 C  K  N  G  L  C  V  N  T  R  G  S  F  K  C  Q  C  P  S  G         p.940

          .         .         .     | 25   .         .         .    g.160736
 ATGACTTTGGATGCCACAGGAAGGATCTGTCTTG | ATATCCGCCTGGAAACCTGCTTCCTG    c.2880
 M  T  L  D  A  T  G  R  I  C  L  D |   I  R  L  E  T  C  F  L      p.960

          .         .         .         .         .         .       g.160796
 AGGTACGAGGACGAGGAGTGCACCCTGCCTATTGCTGGCCGCCACCGCATGGACGCCTGC       c.2940
 R  Y  E  D  E  E  C  T  L  P  I  A  G  R  H  R  M  D  A  C         p.980

          .         .         .         .         .         .       g.160856
 TGCTGCTCCGTCGGGGCAGCCTGGGGTACTGAGGAATGCGAGGAGTGTCCCATGAGAAAT       c.3000
 C  C  S  V  G  A  A  W  G  T  E  E  C  E  E  C  P  M  R  N         p.1000

          .         .         .         .         .         .       g.160916
 ACTCCTGAGTACGAGGAGCTGTGTCCGAGAGGACCCGGATTTGCCACAAAAGAAATTACA       c.3060
 T  P  E  Y  E  E  L  C  P  R  G  P  G  F  A  T  K  E  I  T         p.1020

          .         .   | 26     .         .         .         .    g.162333
 AATGGAAAGCCTTTCTTCAAAG | ATATCAATGAGTGCAAGATGATACCCAGCCTCTGCACC    c.3120
 N  G  K  P  F  F  K  D |   I  N  E  C  K  M  I  P  S  L  C  T      p.1040

          .         .         .         .         .         .       g.162393
 CACGGCAAGTGCAGAAACACCATTGGCAGCTTTAAGTGCAGGTGTGACAGCGGCTTTGCT       c.3180
 H  G  K  C  R  N  T  I  G  S  F  K  C  R  C  D  S  G  F  A         p.1060

          .         .         | 27         .         .         .    g.162579
 CTTGATTCTGAAGAAAGGAACTGCACAG | ACATTGACGAATGCCGCATATCTCCTGACCTC    c.3240
 L  D  S  E  E  R  N  C  T  D |   I  D  E  C  R  I  S  P  D  L      p.1080

          .         .         .         .         .         .       g.162639
 TGTGGCAGAGGCCAGTGTGTGAACACCCCTGGGGACTTTGAATGCAAGTGTGACGAAGGC       c.3300
 C  G  R  G  Q  C  V  N  T  P  G  D  F  E  C  K  C  D  E  G         p.1100

          .         .         .        | 28.         .         .    g.163374
 TATGAAAGTGGATTCATGATGATGAAGAACTGCATGG | ATATTGATGAGTGTCAGAGAGAT    c.3360
 Y  E  S  G  F  M  M  M  K  N  C  M  D |   I  D  E  C  Q  R  D      p.1120

          .         .         .         .         .         .       g.163434
 CCTCTCCTATGCCGAGGTGGTGTTTGCCATAACACAGAGGGAAGTTACCGCTGTGAATGC       c.3420
 P  L  L  C  R  G  G  V  C  H  N  T  E  G  S  Y  R  C  E  C         p.1140

          .         .         .         .    | 29    .         .    g.163605
 CCGCCTGGCCATCAGCTGTCCCCCAACATCTCCGCGTGTATCG | ACATCAATGAATGTGAG    c.3480
 P  P  G  H  Q  L  S  P  N  I  S  A  C  I  D |   I  N  E  C  E      p.1160

          .         .         .         .         .         .       g.163665
 CTGAGTGCACACCTGTGCCCCAATGGCCGTTGCGTGAACCTCATAGGGAAGTATCAGTGT       c.3540
 L  S  A  H  L  C  P  N  G  R  C  V  N  L  I  G  K  Y  Q  C         p.1180

          .         .         .         .          | 30        .    g.165303
 GCCTGCAACCCTGGCTACCATTCAACTCCCGATAGGCTATTTTGTGTTG | ACATTGATGAA    c.3600
 A  C  N  P  G  Y  H  S  T  P  D  R  L  F  C  V  D |   I  D  E      p.1200

          .         .         .         .         .         .       g.165363
 TGCAGCATAATGAATGGTGGTTGTGAAACCTTCTGCACAAACTCTGAAGGCAGCTATGAA       c.3660
 C  S  I  M  N  G  G  C  E  T  F  C  T  N  S  E  G  S  Y  E         p.1220

          .         .         .         .         .   | 31     .    g.166853
 TGTAGCTGTCAGCCGGGATTTGCACTAATGCCTGACCAGAGATCATGCACCG | ACATCGAT    c.3720
 C  S  C  Q  P  G  F  A  L  M  P  D  Q  R  S  C  T  D |   I  D      p.1240

          .         .         .         .         .         .       g.166913
 GAGTGTGAAGATAATCCCAATATCTGTGATGGTGGTCAGTGCACAAATATCCCTGGAGAG       c.3780
 E  C  E  D  N  P  N  I  C  D  G  G  Q  C  T  N  I  P  G  E         p.1260

          .         .         .         .         .         | 32    g.169010
 TACAGGTGCTTGTGTTATGATGGATTCATGGCATCTGAAGACATGAAGACTTGTGTAG | AT    c.3840
 Y  R  C  L  C  Y  D  G  F  M  A  S  E  D  M  K  T  C  V  D |       p.1280

          .         .         .         .         .         .       g.169070
 GTCAATGAGTGTGACCTGAATCCAAATATCTGCCTAAGTGGGACCTGTGAAAACACGAAA       c.3900
 V  N  E  C  D  L  N  P  N  I  C  L  S  G  T  C  E  N  T  K         p.1300

          .         .         .         .         .         .       g.169130
 GGCTCATTTATCTGCCACTGTGATATGGGCTACTCCGGCAAAAAAGGAAAAACTGGCTGT       c.3960
 G  S  F  I  C  H  C  D  M  G  Y  S  G  K  K  G  K  T  G  C         p.1320

      | 33   .         .         .         .         .         .    g.176194
 ACAG | ACATCAATGAATGTGAAATTGGAGCACACAACTGTGGCAAACATGCTGTATGTACC    c.4020
 T  D |   I  N  E  C  E  I  G  A  H  N  C  G  K  H  A  V  C  T      p.1340

          .         .         .         .         .         .       g.176254
 AATACAGCAGGAAGCTTCAAATGTAGCTGCAGTCCCGGGTGGATTGGAGATGGCATTAAG       c.4080
 N  T  A  G  S  F  K  C  S  C  S  P  G  W  I  G  D  G  I  K         p.1360

         | 34.         .         .         .         .         .    g.176464
 TGCACTG | ATCTGGACGAATGTTCCAATGGAACCCATATGTGCAGCCAGCATGCAGACTGC    c.4140
 C  T  D |   L  D  E  C  S  N  G  T  H  M  C  S  Q  H  A  D  C      p.1380

          .         .         .         .         .         .       g.176524
 AAGAATACCATGGGATCTTACCGCTGTCTGTGCAAGGAAGGATACACAGGTGATGGCTTC       c.4200
 K  N  T  M  G  S  Y  R  C  L  C  K  E  G  Y  T  G  D  G  F         p.1400

          . | 35       .         .         .         .         .    g.178162
 ACTTGTACAG | ACCTTGATGAGTGCTCTGAGAACCTGAATCTCTGTGGCAATGGCCAGTGC    c.4260
 T  C  T  D |   L  D  E  C  S  E  N  L  N  L  C  G  N  G  Q  C      p.1420

          .         .         .         .         .         .       g.178222
 CTCAATGCACCAGGAGGATACCGCTGTGAATGCGACATGGGCTTCGTGCCCAGTGCTGAC       c.4320
 L  N  A  P  G  G  Y  R  C  E  C  D  M  G  F  V  P  S  A  D         p.1440

          .       | 36 .         .         .         .         .    g.180076
 GGGAAAGCCTGTGAAG | ATATTGATGAGTGCTCCCTTCCGAACATCTGTGTCTTTGGAACT    c.4380
 G  K  A  C  E  D |   I  D  E  C  S  L  P  N  I  C  V  F  G  T      p.1460

          .         .         .         .         .         .       g.180136
 TGCCACAACCTCCCTGGCCTGTTCCGCTGTGAGTGTGAGATAGGCTACGAACTGGACAGA       c.4440
 C  H  N  L  P  G  L  F  R  C  E  C  E  I  G  Y  E  L  D  R         p.1480

          .          | 37        .         .         .         .    g.182295
 AGCGGCGGGAACTGCACAG | ATGTGAATGAATGCCTGGATCCAACCACGTGCATCAGTGGG    c.4500
 S  G  G  N  C  T  D |   V  N  E  C  L  D  P  T  T  C  I  S  G      p.1500

          .         .         .         .         .         .       g.182355
 AACTGTGTCAACACTCCAGGCAGCTATATCTGTGACTGCCCACCTGATTTTGAACTGAAC       c.4560
 N  C  V  N  T  P  G  S  Y  I  C  D  C  P  P  D  F  E  L  N         p.1520

          .         .   | 38     .         .         .         .    g.182724
 CCAACTCGAGTTGGCTGTGTTG | ATACCCGCTCTGGAAATTGCTATTTGGATATTCGACCT    c.4620
 P  T  R  V  G  C  V  D |   T  R  S  G  N  C  Y  L  D  I  R  P      p.1540

          .         .         .         .         .         .       g.182784
 CGAGGAGACAATGGAGATACAGCCTGCAGCAATGAAATTGGAGTTGGTGTTTCCAAAGCT       c.4680
 R  G  D  N  G  D  T  A  C  S  N  E  I  G  V  G  V  S  K  A         p.1560

          .         .         .         .         .         .       g.182844
 TCCTGCTGCTGTTCTCTGGGTAAAGCCTGGGGTACTCCTTGTGAGATGTGTCCTGCTGTG       c.4740
 S  C  C  C  S  L  G  K  A  W  G  T  P  C  E  M  C  P  A  V         p.1580

         | 39.         .         .         .         .         .    g.184983
 AACACAT | CCGAGTACAAAATTCTTTGTCCTGGAGGGGAAGGTTTCCGACCAAATCCTATC    c.4800
 N  T  S |   E  Y  K  I  L  C  P  G  G  E  G  F  R  P  N  P  I      p.1600

          .       | 40 .         .         .         .         .    g.185139
 ACCGTTATATTGGAAG | ATATTGATGAGTGCCAGGAGCTACCAGGGCTGTGCCAAGGAGGA    c.4860
 T  V  I  L  E  D |   I  D  E  C  Q  E  L  P  G  L  C  Q  G  G      p.1620

          .         .         .         .         .         .       g.185199
 AAATGTATCAACACCTTTGGGAGTTTCCAGTGCCGCTGTCCAACCGGCTACTACCTGAAT       c.4920
 K  C  I  N  T  F  G  S  F  Q  C  R  C  P  T  G  Y  Y  L  N         p.1640

          .         .   | 41     .         .         .         .    g.186805
 GAAGATACACGAGTGTGTGATG | ATGTGAATGAATGTGAGACTCCTGGAATCTGTGGTCCA    c.4980
 E  D  T  R  V  C  D  D |   V  N  E  C  E  T  P  G  I  C  G  P      p.1660

          .         .         .         .         .         .       g.186865
 GGGACATGTTACAACACCGTTGGCAACTACACCTGTATCTGTCCTCCAGACTACATGCAA       c.5040
 G  T  C  Y  N  T  V  G  N  Y  T  C  I  C  P  P  D  Y  M  Q         p.1680

          .         .      | 42  .         .         .         .    g.187583
 GTGAATGGGGGAAATAATTGCATGG | ATATGAGAAGAAGTTTGTGCTACAGAAACTACTAT    c.5100
 V  N  G  G  N  N  C  M  D |   M  R  R  S  L  C  Y  R  N  Y  Y      p.1700

          .         .         .         .         .         .       g.187643
 GCTGACAACCAGACCTGTGATGGAGAATTGTTATTCAACATGACCAAGAAGATGTGCTGC       c.5160
 A  D  N  Q  T  C  D  G  E  L  L  F  N  M  T  K  K  M  C  C         p.1720

          .         .         .         .         .         .       g.187703
 TGTTCCTACAACATTGGCCGGGCGTGGAACAAGCCCTGTGAACAGTGTCCCATCCCAAGT       c.5220
 C  S  Y  N  I  G  R  A  W  N  K  P  C  E  Q  C  P  I  P  S         p.1740

      | 43   .         .         .         .         .         .    g.190527
 ACAG | ATGAGTTTGCTACACTCTGTGGAAGTCAAAGGCCAGGCTTTGTCATCGACATTTAT    c.5280
 T  D |   E  F  A  T  L  C  G  S  Q  R  P  G  F  V  I  D  I  Y      p.1760

          .       | 44 .         .         .         .         .    g.194070
 ACCGGTTTACCCGTTG | ATATTGATGAGTGCCGGGAGATCCCAGGGGTCTGTGAAAATGGA    c.5340
 T  G  L  P  V  D |   I  D  E  C  R  E  I  P  G  V  C  E  N  G      p.1780

          .         .         .         .         .         .       g.194130
 GTGTGTATCAACATGGTTGGCAGCTTCCGATGTGAATGTCCAGTGGGATTCTTCTATAAT       c.5400
 V  C  I  N  M  V  G  S  F  R  C  E  C  P  V  G  F  F  Y  N         p.1800

          .         .   | 45     .         .         .         .    g.198142
 GACAAGTTGTTGGTTTGTGAAG | ATATTGACGAGTGTCAGAACGGCCCAGTGTGCCAGCGC    c.5460
 D  K  L  L  V  C  E  D |   I  D  E  C  Q  N  G  P  V  C  Q  R      p.1820

          .         .         .         .         .         .       g.198202
 AACGCCGAATGCATCAACACTGCAGGCAGCTACCGCTGTGACTGTAAGCCCGGCTACCGC       c.5520
 N  A  E  C  I  N  T  A  G  S  Y  R  C  D  C  K  P  G  Y  R         p.1840

          .         .      | 46  .         .         .         .    g.201930
 TTCACCTCCACAGGACAGTGCAATG | ATCGTAATGAATGTCAAGAAATCCCCAATATATGC    c.5580
 F  T  S  T  G  Q  C  N  D |   R  N  E  C  Q  E  I  P  N  I  C      p.1860

          .         .         .         .         .         .       g.201990
 AGTCATGGGCAGTGCATTGACACAGTTGGAAGCTTTTATTGCCTTTGCCACACTGGTTTT       c.5640
 S  H  G  Q  C  I  D  T  V  G  S  F  Y  C  L  C  H  T  G  F         p.1880

          .         .         .  | 47      .         .         .    g.203995
 AAAACAAATGATGACCAAACCATGTGCTTGG | ACATAAATGAATGTGAAAGAGATGCCTGT    c.5700
 K  T  N  D  D  Q  T  M  C  L  D |   I  N  E  C  E  R  D  A  C      p.1900

          .         .         .         .         .         .       g.204055
 GGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTC       c.5760
 G  N  G  T  C  R  N  T  I  G  S  F  N  C  R  C  N  H  G  F         p.1920

          .         .         | 48         .         .         .    g.205316
 ATCCTTTCTCACAACAATGACTGTATAG | ATGTTGATGAATGTGCAAGTGGAAATGGGAAT    c.5820
 I  L  S  H  N  N  D  C  I  D |   V  D  E  C  A  S  G  N  G  N      p.1940

          .         .         .         .         .         .       g.205376
 CTTTGCAGAAATGGCCAATGCATTAATACAGTGGGGTCTTTCCAGTGCCAGTGCAATGAA       c.5880
 L  C  R  N  G  Q  C  I  N  T  V  G  S  F  Q  C  Q  C  N  E         p.1960

          .         .         .        | 49.         .         .    g.206151
 GGCTATGAGGTGGCTCCAGATGGGAGGACCTGTGTGG | ATATCAATGAATGTCTTCTAGAA    c.5940
 G  Y  E  V  A  P  D  G  R  T  C  V  D |   I  N  E  C  L  L  E      p.1980

          .         .         .         .         .         .       g.206211
 CCCAGAAAATGTGCACCAGGTACCTGTCAAAACTTGGATGGGTCCTACAGATGCATTTGC       c.6000
 P  R  K  C  A  P  G  T  C  Q  N  L  D  G  S  Y  R  C  I  C         p.2000

          .         .         .        | 50.         .         .    g.208965
 CCACCTGGATACAGTCTTCAAAATGAGAAGTGTGAAG | ATATTGATGAGTGTGTCGAAGAG    c.6060
 P  P  G  Y  S  L  Q  N  E  K  C  E  D |   I  D  E  C  V  E  E      p.2020

          .         .         .         .         .         .       g.209025
 CCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGT       c.6120
 P  E  I  C  A  L  G  T  C  S  N  T  E  G  S  F  K  C  L  C         p.2040

          .         .         .         .    | 51    .         .    g.212888
 CCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAG | ATTTGCGAATGAGCTAC    c.6180
 P  E  G  F  S  L  S  S  S  G  R  R  C  Q  D |   L  R  M  S  Y      p.2060

          .         .         .         .         .         .       g.212948
 TGTTATGCGAAGTTTGAAGGAGGAAAGTGTTCATCACCCAAATCCAGAAATCACTCCAAG       c.6240
 C  Y  A  K  F  E  G  G  K  C  S  S  P  K  S  R  N  H  S  K         p.2080

          .         .         .         .         .         .       g.213008
 CAGGAATGCTGCTGTGCCTTGAAGGGAGAAGGCTGGGGAGACCCCTGCGAGCTCTGCCCC       c.6300
 Q  E  C  C  C  A  L  K  G  E  G  W  G  D  P  C  E  L  C  P         p.2100

          .    | 52    .         .         .         .         .    g.213448
 ACGGAACCTGATG | AGGCCTTCCGCCAGATATGTCCTTATGGAAGTGGGATCATCGTGGGA    c.6360
 T  E  P  D  E |   A  F  R  Q  I  C  P  Y  G  S  G  I  I  V  G      p.2120

          .          | 53        .         .         .         .    g.213752
 CCTGATGATTCAGCAGTTG | ATATGGACGAATGCAAAGAACCCGATGTCTGTAAACATGGA    c.6420
 P  D  D  S  A  V  D |   M  D  E  C  K  E  P  D  V  C  K  H  G      p.2140

          .         .         .         .         .         .       g.213812
 CAGTGCATCAATACAGATGGTTCCTATCGCTGCGAGTGTCCCTTTGGTTATATTCTAGCA       c.6480
 Q  C  I  N  T  D  G  S  Y  R  C  E  C  P  F  G  Y  I  L  A         p.2160

          .       | 54 .         .         .         .         .    g.216119
 GGGAATGAATGTGTAG | ATACTGATGAATGTTCTGTTGGCAATCCTTGTGGAAATGGAACC    c.6540
 G  N  E  C  V  D |   T  D  E  C  S  V  G  N  P  C  G  N  G  T      p.2180

          .         .         .         .         .         .       g.216179
 TGCAAGAATGTGATTGGAGGTTTTGAATGCACCTGCGAGGAGGGATTTGAGCCCGGTCCA       c.6600
 C  K  N  V  I  G  G  F  E  C  T  C  E  E  G  F  E  P  G  P         p.2200

          .       | 55 .         .         .         .         .    g.217844
 ATGATGACATGTGAAG | ATATAAATGAATGTGCCCAGAATCCTCTGCTCTGTGCCTTCCGA    c.6660
 M  M  T  C  E  D |   I  N  E  C  A  Q  N  P  L  L  C  A  F  R      p.2220

          .         .         .         .         .         .       g.217904
 TGTGTGAACACTTATGGGTCATATGAATGCAAATGTCCCGTGGGATATGTGCTCAGAGAA       c.6720
 C  V  N  T  Y  G  S  Y  E  C  K  C  P  V  G  Y  V  L  R  E         p.2240

          .          | 56        .         .         .         .    g.220027
 GACCGTAGGATGTGCAAAG | ATGAGGATGAGTGTGAAGAGGGAAAACATGACTGTACTGAA    c.6780
 D  R  R  M  C  K  D |   E  D  E  C  E  E  G  K  H  D  C  T  E      p.2260

          .         .         .         .         .         .       g.220087
 AAACAAATGGAATGCAAGAACCTCATTGGCACATATATGTGCATCTGTGGACCCGGGTAT       c.6840
 K  Q  M  E  C  K  N  L  I  G  T  Y  M  C  I  C  G  P  G  Y         p.2280

          .         .         .  | 57      .         .         .    g.222346
 CAGCGGAGACCTGATGGAGAAGGCTGTGTAG | ATGAGAATGAATGTCAGACGAAGCCAGGG    c.6900
 Q  R  R  P  D  G  E  G  C  V  D |   E  N  E  C  Q  T  K  P  G      p.2300

          .         .         .         .         .         .       g.222406
 ATCTGTGAGAATGGGCGCTGCCTCAACACCCGTGGGAGCTACACCTGTGAGTGTAATGAT       c.6960
 I  C  E  N  G  R  C  L  N  T  R  G  S  Y  T  C  E  C  N  D         p.2320

          .         .         .        | 58.         .         .    g.223038
 GGGTTTACCGCCAGCCCCAACCAGGACGAGTGCCTTG | ACAATCGGGAAGGGTACTGCTTC    c.7020
 G  F  T  A  S  P  N  Q  D  E  C  L  D |   N  R  E  G  Y  C  F      p.2340

          .         .         .         .         .         .       g.223098
 ACAGAGGTGCTACAAAACATGTGTCAGATCGGCTCCAGCAACAGGAACCCCGTCACCAAA       c.7080
 T  E  V  L  Q  N  M  C  Q  I  G  S  S  N  R  N  P  V  T  K         p.2360

          .         .         .         .         .         .       g.223158
 TCGGAATGCTGCTGTGACGGAGGGAGAGGCTGGGGTCCCCACTGTGAGATCTGCCCTTTC       c.7140
 S  E  C  C  C  D  G  G  R  G  W  G  P  H  C  E  I  C  P  F         p.2380

          .         .         .         .         .         .       g.223218
 CAGGGGACTGTGGCTTTCAAGAAACTCTGTCCCCATGGCCGAGGATTCATGACCAATGGA       c.7200
 Q  G  T  V  A  F  K  K  L  C  P  H  G  R  G  F  M  T  N  G         p.2400

      | 59   .         .         .         .         .         .    g.224980
 GCAG | ATATCGATGAATGCAAGGTTATTCACGATGTTTGCCGAAATGGGGAATGTGTCAAT    c.7260
 A  D |   I  D  E  C  K  V  I  H  D  V  C  R  N  G  E  C  V  N      p.2420

          .         .         .         .         .         .       g.225040
 GACAGAGGATCATATCATTGCATTTGTAAAACTGGGTACACTCCAGATATAACTGGGACT       c.7320
 D  R  G  S  Y  H  C  I  C  K  T  G  Y  T  P  D  I  T  G  T         p.2440

          . | 60       .         .         .         .         .    g.225347
 TCCTGTGTAG | ATCTGAACGAGTGCAACCAGGCTCCCAAACCCTGCAATTTTATCTGCAAA    c.7380
 S  C  V  D |   L  N  E  C  N  Q  A  P  K  P  C  N  F  I  C  K      p.2460

          .         .         .         .         .         .       g.225407
 AACACAGAAGGGAGTTACCAGTGTTCATGCCCGAAAGGCTACATTCTGCAAGAGGATGGA       c.7440
 N  T  E  G  S  Y  Q  C  S  C  P  K  G  Y  I  L  Q  E  D  G         p.2480

          .    | 61    .         .         .         .         .    g.228767
 AGGAGCTGCAAAG | ATCTTGATGAGTGTGCAACCAAGCAACACAACTGCCAGTTCCTATGT    c.7500
 R  S  C  K  D |   L  D  E  C  A  T  K  Q  H  N  C  Q  F  L  C      p.2500

          .         .         .         .         .         .       g.228827
 GTTAACACCATTGGCGGCTTCACATGCAAATGTCCTCCCGGATTTACCCAACACCATACG       c.7560
 V  N  T  I  G  G  F  T  C  K  C  P  P  G  F  T  Q  H  H  T         p.2520

          . | 62       .         .         .         .         .    g.229152
 TCCTGCATTG | ATAACAATGAATGCACCTCTGACATCAATCTGTGCGGGTCTAAGGGCATT    c.7620
 S  C  I  D |   N  N  E  C  T  S  D  I  N  L  C  G  S  K  G  I      p.2540

          .         .         .         .         .         .       g.229212
 TGCCAGAACACTCCTGGAAGCTTCACCTGTGAATGCCAGCGGGGATTCTCACTTGATCAG       c.7680
 C  Q  N  T  P  G  S  F  T  C  E  C  Q  R  G  F  S  L  D  Q         p.2560

          .          | 63        .         .         .         .    g.230023
 ACCGGCTCCAGCTGTGAAG | ACGTGGACGAGTGTGAGGGTAACCACCGCTGCCAGCATGGC    c.7740
 T  G  S  S  C  E  D |   V  D  E  C  E  G  N  H  R  C  Q  H  G      p.2580

          .         .         .         .         .         .       g.230083
 TGCCAGAACATCATTGGGGGCTACAGGTGCAGCTGCCCCCAGGGCTACCTCCAGCACTAC       c.7800
 C  Q  N  I  I  G  G  Y  R  C  S  C  P  Q  G  Y  L  Q  H  Y         p.2600

          .          | 64        .         .         .         .    g.235062
 CAGTGGAACCAGTGTGTTG | ATGAAAACGAATGCCTCAGCGCTCACATCTGCGGAGGAGCC    c.7860
 Q  W  N  Q  C  V  D |   E  N  E  C  L  S  A  H  I  C  G  G  A      p.2620

          .         .         .         .         .         .       g.235122
 TCCTGTCACAACACCCTGGGGAGCTACAAGTGCATGTGTCCCGCCGGCTTCCAGTATGAA       c.7920
 S  C  H  N  T  L  G  S  Y  K  C  M  C  P  A  G  F  Q  Y  E         p.2640

          .         .         .         .         .         .       g.235182
 CAGTTCAGTGGAGGATGCCAAGACATCAATGAATGTGGCTCTGCGCAGGCCCCCTGCAGC       c.7980
 Q  F  S  G  G  C  Q  D  I  N  E  C  G  S  A  Q  A  P  C  S         p.2660

          .         .         .         .         .         .       g.235242
 TATGGCTGTTCCAATACCGAGGGCGGTTACCTGTGTGGCTGTCCACCTGGTTACTTCCGC       c.8040
 Y  G  C  S  N  T  E  G  G  Y  L  C  G  C  P  P  G  Y  F  R         p.2680

          .  | 65      .         .         .         .         .    g.238094
 ATAGGCCAAGG | GCACTGTGTTTCTGGAATGGGCATGGGCCGAGGAAACCCAGAGCCACCT    c.8100
 I  G  Q  G  |  H  C  V  S  G  M  G  M  G  R  G  N  P  E  P  P      p.2700

          .         .         .         .         .         .       g.238154
 GTCAGTGGTGAAATGGATGACAATTCACTCTCCCCAGAGGCTTGTTACGAGTGTAAGATC       c.8160
 V  S  G  E  M  D  D  N  S  L  S  P  E  A  C  Y  E  C  K  I         p.2720

          .         .         .         .         .         .       g.238214
 AATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACTGATGCCTCCAAT       c.8220
 N  G  Y  P  K  R  G  R  K  R  R  S  T  N  E  T  D  A  S  N         p.2740

        | 66 .         .         .         .         .         .    g.239463
 ATCGAG | GATCAGTCTGAGACAGAAGCCAATGTGAGTCTTGCAAGTTGGGATGTTGAGAAG    c.8280
 I  E   | D  Q  S  E  T  E  A  N  V  S  L  A  S  W  D  V  E  K      p.2760

          .         .         .         .         .         .       g.239523
 ACAGCCATCTTTGCTTTCAATATTTCCCACGTCAGTAACAAGGTTCGAATCCTAGAACTC       c.8340
 T  A  I  F  A  F  N  I  S  H  V  S  N  K  V  R  I  L  E  L         p.2780

          .         .         .         .         .         .       g.239583
 CTTCCAGCTCTTACAACTCTGACGAATCACAACAGATACTTGATCGAATCTGGAAATGAA       c.8400
 L  P  A  L  T  T  L  T  N  H  N  R  Y  L  I  E  S  G  N  E         p.2800

          .         .         .         .         .         .       g.239643
 GATGGCTTCTTTAAAATCAACCAAAAGGAAGGGATCAGCTACCTCCACTTCACAAAGAAG       c.8460
 D  G  F  F  K  I  N  Q  K  E  G  I  S  Y  L  H  F  T  K  K         p.2820

          .         .         .         .         .         .       g.239703
 AAGCCAGTGGCTGGAACCTATTCATTACAAATCAGTAGTACTCCACTTTATAAAAAGAAA       c.8520
 K  P  V  A  G  T  Y  S  L  Q  I  S  S  T  P  L  Y  K  K  K         p.2840

          .         .         .         .         .         .       g.239763
 GAACTTAACCAACTAGAAGACAAATATGACAAAGACTACCTCAGTGGTGAACTGGGTGAT       c.8580
 E  L  N  Q  L  E  D  K  Y  D  K  D  Y  L  S  G  E  L  G  D         p.2860

          .         .         .                                     g.239799
 AATCTGAAGATGAAAATCCAGGTTTTGCTTCATTAA                               c.8616
 N  L  K  M  K  I  Q  V  L  L  H  X                                 p.2871

          .         .         .         .         .         .       g.239859
 ttcaccatccagagaccaaataattaaaagaaaaacaaatatagataggtagaactatat       c.*60

          .         .         .         .         .         .       g.239919
 tttcccccaatcagaatcatcatatcataggtacaatctttcaccaagtaaatttgtata       c.*120

          .         .         .         .         .         .       g.239979
 aataagcactattctttgtattaccaaagcaaggtacaggtgactaccctagttcaaaac       c.*180

          .         .         .         .         .         .       g.240039
 aaccactttctcaggcttctcatgtgtgtagctaagctaccttgtcatatgtgttgattc       c.*240

          .         .         .         .         .         .       g.240099
 ttgaaaactgggacgtgtatttccattgggggttggccatttatgctgacatgccatcct       c.*300

          .         .         .         .         .         .       g.240159
 tccagcaaacgtacgggaatgtgctttcaattgatggactactctattttttgcaaattt       c.*360

          .         .         .         .         .         .       g.240219
 gtaaactttgcttctccaaatacaagtactaggttgtccatttatggtacctatttggtg       c.*420

          .         .         .         .         .         .       g.240279
 ctagtaaattttcaaactagatttataaatgcactgtaatatgtacacaacttagaaacc       c.*480

          .         .         .         .         .         .       g.240339
 aaattacaagtattcagttccaatacttcattaatttcaatcaaccaaagttagttcagt       c.*540

          .         .         .         .         .         .       g.240399
 agcttatctcagttatgagtataatacattacatgtaaattaagtgtgtgtatactgtaa       c.*600

          .         .         .         .         .         .       g.240459
 tcgtgctattttttatcattgaaacatttataaactagaataataatgcccttaatgtga       c.*660

          .         .         .         .         .         .       g.240519
 gggtttgtaatggtgcttattaagaccaaagacttgttaaatgtatacaccaagtggtaa       c.*720

          .         .         .         .         .         .       g.240579
 tgaaatttcggtgactggcccacacgtgcatagaggtctgggaggaccaggaaacagcct       c.*780

          .         .         .         .         .         .       g.240639
 cagtggccagaggatcaccagtgcatccttcatcacagcatgtgcaatatgccaagatta       c.*840

          .         .         .         .         .         .       g.240699
 ccctcggtcattcctgtcaacaaggggtcaatgtcataaatgtcacaataaaacaatctc       c.*900

          .         .         .         .         .         .       g.240759
 ttcttttttttagtttaccccttggctttgtgttcttgcatggatttggggttggagggg       c.*960

          .         .         .         .         .         .       g.240819
 ccattccggaggctaaataaagtctcctggatttaaattatcctgggtctcttacttatg       c.*1020

          .         .         .         .         .         .       g.240879
 gcttatgaaagtaccaaatgtataaccactagaagaaaatttaacatatgagtcgatccc       c.*1080

          .         .         .         .         .         .       g.240939
 ttgttttatccattgaaagtagcagagtctggtgtcattaacctgacttgcttgtgagaa       c.*1140

          .         .         .         .         .         .       g.240999
 atttagattgtagagtcatttctgaaacatgacctaattcatcttgtgacttttaaatag       c.*1200

          .         .         .         .         .         .       g.241059
 tcttaaataccaagttcagtcattgtcttagagcacatgaatttcattataatagattta       c.*1260

          .         .         .         .         .         .       g.241119
 tcatgcccccctctcaaatatacacagttttggcaagccttaggtgttctgttccatttt       c.*1320

          .         .         .         .         .         .       g.241179
 tttttcccctaaacatctttcgttagtcaatgctcatctaattacaaagggataatccca       c.*1380

          .         .         .         .         .         .       g.241239
 gactgtatccaattgctgtaacttttggtttcttaatgtcataatttttaaagtctgttt       c.*1440

          .         .         .         .         .         .       g.241299
 tattttaagtgcaatattgagtatttagctgttaggctcaatccgtcgatatgaaataat       c.*1500

          .         .         .         .         .         .       g.241359
 tttttaaatccctaagggcaggaaagcatttcgtggtagtgaaaataagaggaaataaga       c.*1560

          .         .         .         .         .         .       g.241419
 tggcatgaaggtggtgggcggagaaactaggtaggacacaggaaagtgctctcaaaaatc       c.*1620

          .         .         .         .         .         .       g.241479
 tttgaagagctcagctgaaaaaaatggagtagatttggctcatactattccggaaggcaa       c.*1680

          .         .         .         .         .         .       g.241539
 aaccagggtcagctgatgtcagccccagtttaatacacacggtcccaattatagagctac       c.*1740

          .         .         .         .         .         .       g.241599
 tcactgaaagaatgggtttccttgcattgtggtgagctccctgtcacaagatagaagagt       c.*1800

          .         .         .         .         .         .       g.241659
 ttcagtctaggcttaatggcaaccattggacaaagatgctttcttccacctaacaggcca       c.*1860

          .         .         .         .         .         .       g.241719
 ttaacatcttaaaggtatttttgtatctctaattttgtttataataggtgctcaacagaa       c.*1920

          .         .         .         .         .         .       g.241779
 tgagctgaatggctgttacaaagggggtttgtaccttgggtaagagattaaaatataact       c.*1980

          .         .         .         .         .         .       g.241839
 caaaatttccttctaacgctgcacctatggaaccatgtgatagaggtgtattaaaattgt       c.*2040

          .         .         .         .         .         .       g.241899
 tatcgaagaatatatagcatatggtaaacaacagtttgcatatggaaaatgtctttgata       c.*2100

          .         .         .         .         .         .       g.241959
 atttaaccagaactgcattatattcaataacggattttctttataacaaacaacagggga       c.*2160

          .         .         .         .         .         .       g.242019
 aaatggagttggcacacagtggatcactttgatatttttaatagtccaagtctggatttt       c.*2220

          .         .         .         .         .         .       g.242079
 atttattcctgagccaacaattttgaacagcatattttccatgtttctgactgtaacaaa       c.*2280

          .         .         .         .         .         .       g.242139
 acattttcctcattgttccattgtaaatattcctcttgttggaactctttttaatcctga       c.*2340

          .         .         .         .         .         .       g.242199
 gatttaaacctgtacctttcaattgtctgtgacctttcaatttcactttcaatagttgaa       c.*2400

          .         .         .         .         .         .       g.242259
 gaacttggctttgtaaatctctcagaagcttgaaaatatcttgtctctaccccctcagcc       c.*2460

          .         .         .         .         .         .       g.242319
 catttcatttgccaataattattttgtaagtagggttgaaatgaactcagctggccttgt       c.*2520

          .         .         .         .         .         .       g.242379
 gaaatgtttaaacttgcacaaacaactacatttttgttcaacaaatagcagtttactcag       c.*2580

          .         .         .         .         .         .       g.242439
 ccaaaatcactttggatattgccattacaaatactgttaaacttcagaaatcatgtctgt       c.*2640

          .         .         .         .                           g.242483
 aaattagatgagccaaaataaaggacaattgggttgatgctgca                       c.*2684

 (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 Fibrillin 1 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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