myosin VI (MYO6) - coding DNA reference sequence

(used for variant description)

(last modified February 18, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_004999.3 in the MYO6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009934.1, covering MYO6 transcript NM_004999.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5039
                      gtgcacgccgcagtgccggggactcggcggggcgccggc       c.-241

 .         .         .         .         .         .                g.5099
 cggcgggcggagaccgactcgggatctgtccgagcaggaagccagcctcagcccggccgc       c.-181

 .         .         .         .         .         .                g.5159
 tgtcgccgccctgtcctggtgcccgtccgcgtcgtcgccctcttcactggccctcatcac       c.-121

 .         .         .         .         .         .                g.5219
 ttctcaccgcgccctccagcttcacccgtacaggtagccccgccgccgcgcacctgcctt       c.-61

 .         .   | 02     .         .         .         .             g.73356
 cgctcccgcaccg | gtgacagtggatagtggaaacaggagatcgtggatcctccttcaaaa    c.-1

          .         .         .         .         .         .       g.73416
 ATGGAGGATGGAAAGCCCGTTTGGGCGCCACACCCTACAGATGGATTTCAGATGGGCAAT       c.60
 M  E  D  G  K  P  V  W  A  P  H  P  T  D  G  F  Q  M  G  N         p.20

          .         .         .         .         .        | 03.    g.78593
 ATTGTGGATATTGGCCCCGACAGCTTAACAATTGAACCCTTGAATCAGAAAGGCAAG | ACA    c.120
 I  V  D  I  G  P  D  S  L  T  I  E  P  L  N  Q  K  G  K   | T      p.40

          .         .         .         .         .         .       g.78653
 TTTTTGGCTCTCATAAACCAAGTGTTTCCTGCAGAAGAGGACAGTAAAAAAGATGTGGAA       c.180
 F  L  A  L  I  N  Q  V  F  P  A  E  E  D  S  K  K  D  V  E         p.60

         | 04.         .         .         .         .         .    g.84401
 GATAACT | GTTCACTAATGTATTTAAATGAAGCCACACTGCTCCATAATATCAAAGTTCGA    c.240
 D  N  C |   S  L  M  Y  L  N  E  A  T  L  L  H  N  I  K  V  R      p.80

          .         .  | 05      .         .         .         .    g.86263
 TATAGTAAAGACAGAATTTAT | ACATATGTCGCCAACATTCTGATTGCAGTGAATCCATAC    c.300
 Y  S  K  D  R  I  Y   | T  Y  V  A  N  I  L  I  A  V  N  P  Y      p.100

          .         .         .         .         .         .       g.86323
 TTTGACATACCTAAAATATATTCTTCAGAAGCAATAAAGTCATATCAAGGAAAATCTCTT       c.360
 F  D  I  P  K  I  Y  S  S  E  A  I  K  S  Y  Q  G  K  S  L         p.120

          .         .         .  | 06      .         .         .    g.88679
 GGGACAAGACCACCTCATGTCTTTGCAATTG | CTGATAAAGCTTTTCGAGACATGAAGGTG    c.420
 G  T  R  P  P  H  V  F  A  I  A |   D  K  A  F  R  D  M  K  V      p.140

          .         .         .         .         .         .       g.88739
 CTCAAGATGAGTCAGTCTATCATTGTATCTGGAGAATCAGGAGCCGGCAAAACAGAAAAT       c.480
 L  K  M  S  Q  S  I  I  V  S  G  E  S  G  A  G  K  T  E  N         p.160

          .        | 07.         .         .         .         .    g.91752
 ACAAAATTTGTTCTAAG | ATACCTGACTGAATCCTATGGAACAGGTCAAGATATTGATGAC    c.540
 T  K  F  V  L  R  |  Y  L  T  E  S  Y  G  T  G  Q  D  I  D  D      p.180

          .    | 08    .         .         .         .         .    g.96440
 AGAATTGTTGAAG | CTAACCCACTCCTAGAAGCCTTTGGAAATGCGAAGACTGTTCGCAAC    c.600
 R  I  V  E  A |   N  P  L  L  E  A  F  G  N  A  K  T  V  R  N      p.200

          .         .         .         .         .  | 09      .    g.97031
 AATAATAGCAGTCGATTTGGGAAATTTGTAGAAATACATTTTAATGAAAAG | AGCTCAGTT    c.660
 N  N  S  S  R  F  G  K  F  V  E  I  H  F  N  E  K   | S  S  V      p.220

          .         .         .         .         .         .       g.97091
 GTTGGAGGATTTGTTTCACATTATCTCCTAGAGAAATCTAGGATCTGTGTTCAAGGCAAA       c.720
 V  G  G  F  V  S  H  Y  L  L  E  K  S  R  I  C  V  Q  G  K         p.240

          .         .         .         .         .         .       g.97151
 GAGGAAAGAAATTATCATATCTTTTATAGGTTGTGTGCTGGTGCTTCTGAAGATATTAGA       c.780
 E  E  R  N  Y  H  I  F  Y  R  L  C  A  G  A  S  E  D  I  R         p.260

          .         .         .       | 10 .         .         .    g.100729
 GAAAAACTTCATTTGAGTTCACCAGATAATTTTCGG | TATTTAAACCGAGGCTGCACTAGA    c.840
 E  K  L  H  L  S  S  P  D  N  F  R   | Y  L  N  R  G  C  T  R      p.280

          .         .         .         .         .        | 11.    g.104162
 TACTTTGCTAACAAAGAAACTGACAAACAGATTTTACAGAACCGCAAAAGTCCTGAG | TAC    c.900
 Y  F  A  N  K  E  T  D  K  Q  I  L  Q  N  R  K  S  P  E   | Y      p.300

          .         .         .         .         .         .       g.104222
 CTTAAGGCAGGTTCTATGAAAGATCCTCTGCTAGATGACCATGGTGATTTTATTAGAATG       c.960
 L  K  A  G  S  M  K  D  P  L  L  D  D  H  G  D  F  I  R  M         p.320

          .         .         .         .         .         .       g.104282
 TGCACGGCTATGAAAAAAATTGGTTTGGATGATGAAGAAAAGCTTGATCTCTTCCGGGTA       c.1020
 C  T  A  M  K  K  I  G  L  D  D  E  E  K  L  D  L  F  R  V         p.340

          .         .         .         .         .         | 12    g.110949
 GTAGCTGGCGTCCTGCACCTTGGAAATATTGATTTTGAGGAAGCTGGCAGCACTTCAG | GT    c.1080
 V  A  G  V  L  H  L  G  N  I  D  F  E  E  A  G  S  T  S  G |       p.360

          .         .         .         .         .         .       g.111009
 GGTTGTAATCTGAAGAATAAATCTGCTCAGTCTTTGGAATATTGTGCTGAATTACTGGGT       c.1140
 G  C  N  L  K  N  K  S  A  Q  S  L  E  Y  C  A  E  L  L  G         p.380

          .         .         .         .         .         .       g.111069
 TTGGACCAAGATGATCTTCGAGTAAGTTTGACCACAAGAGTCATGCTAACAACAGCAGGG       c.1200
 L  D  Q  D  D  L  R  V  S  L  T  T  R  V  M  L  T  T  A  G         p.400

          .         .    | 13    .         .         .         .    g.112942
 GGCACCAAAGGAACAGTTATAAA | GGTACCTCTGAAAGTGGAGCAAGCAAACAATGCTCGT    c.1260
 G  T  K  G  T  V  I  K  |  V  P  L  K  V  E  Q  A  N  N  A  R      p.420

          .         .         .         .         .         .       g.113002
 GATGCCCTGGCAAAGACAGTGTATAGCCATCTTTTTGATCATGTGGTAAACAGAGTAAAT       c.1320
 D  A  L  A  K  T  V  Y  S  H  L  F  D  H  V  V  N  R  V  N         p.440

          .         .         .         .         .         .       g.113062
 CAGTGTTTTCCTTTTGAAACATCATCCTATTTTATTGGAGTCCTAGATATTGCTGGTTTT       c.1380
 Q  C  F  P  F  E  T  S  S  Y  F  I  G  V  L  D  I  A  G  F         p.460

   | 14      .         .         .         .         .         .    g.114769
 G | AGTACTTTGAGCATAACAGTTTTGAACAATTTTGCATCAACTATTGCAATGAAAAACTT    c.1440
 E |   Y  F  E  H  N  S  F  E  Q  F  C  I  N  Y  C  N  E  K  L      p.480

          .         .         .    | 15    .         .         .    g.116858
 CAACAATTTTTTAATGAAAGGATTCTGAAGGAG | GAACAAGAACTCTATCAAAAAGAAGGT    c.1500
 Q  Q  F  F  N  E  R  I  L  K  E   | E  Q  E  L  Y  Q  K  E  G      p.500

          .         .         .         .       | 16 .         .    g.118418
 TTAGGTGTTAATGAAGTGCATTATGTGGATAATCAGGACTGTATAG | ATTTAATTGAAGCC    c.1560
 L  G  V  N  E  V  H  Y  V  D  N  Q  D  C  I  D |   L  I  E  A      p.520

          .         .         .         .         .         .       g.118478
 AAATTAGTGGGAATACTGGATATTTTGGATGAAGAAAATCGCCTTCCCCAGCCAAGTGAT       c.1620
 K  L  V  G  I  L  D  I  L  D  E  E  N  R  L  P  Q  P  S  D         p.540

          .         .         .         .         .     | 17   .    g.122340
 CAACACTTTACATCTGCAGTTCACCAAAAGCACAAGGATCATTTTCGACTCACT | ATTCCC    c.1680
 Q  H  F  T  S  A  V  H  Q  K  H  K  D  H  F  R  L  T   | I  P      p.560

          .         .         .         .         .         .       g.122400
 AGAAAATCTAAGCTGGCAGTTCATAGGAATATCAGAGACGACGAAGGCTTCATTATCAGG       c.1740
 R  K  S  K  L  A  V  H  R  N  I  R  D  D  E  G  F  I  I  R         p.580

          .         .         . | 18       .         .         .    g.122770
 CATTTTGCGGGGGCAGTGTGCTATGAAACA | ACCCAGTTTGTGGAGAAAAATAATGATGCT    c.1800
 H  F  A  G  A  V  C  Y  E  T   | T  Q  F  V  E  K  N  N  D  A      p.600

          .         .         .         .         .         .       g.122830
 TTACATATGTCTCTTGAATCCTTAATATGTGAATCCAGAGATAAGTTTATACGGGAATTA       c.1860
 L  H  M  S  L  E  S  L  I  C  E  S  R  D  K  F  I  R  E  L         p.620

          .         .         .         .         .         .       g.122890
 TTTGAATCATCCACAAATAACAACAAAGATACTAAACAAAAAGCAGGAAAACTTAGCTTC       c.1920
 F  E  S  S  T  N  N  N  K  D  T  K  Q  K  A  G  K  L  S  F         p.640

          .         .     | 19   .         .         .         .    g.126491
 ATCAGCGTGGGAAACAAGTTTAAG | ACACAGTTAAATTTGCTTCTGGATAAACTTCGAAGT    c.1980
 I  S  V  G  N  K  F  K   | T  Q  L  N  L  L  L  D  K  L  R  S      p.660

     | 20    .         .         .         .         .         .    g.129072
 ACT | GGAGCAAGCTTTATTCGTTGCATCAAACCTAACTTAAAGATGACAAGCCACCACTTT    c.2040
 T   | G  A  S  F  I  R  C  I  K  P  N  L  K  M  T  S  H  H  F      p.680

          .         .         .        | 21.         .         .    g.135651
 GAAGGTGCTCAAATTCTGTCTCAGCTTCAGTGTTCAG | GGATGGTGTCTGTTTTGGACTTG    c.2100
 E  G  A  Q  I  L  S  Q  L  Q  C  S  G |   M  V  S  V  L  D  L      p.700

          .         .         .         .         .         .       g.135711
 ATGCAGGGTGGTTACCCATCACGAGCTTCATTTCATGAACTCTACAACATGTACAAAAAG       c.2160
 M  Q  G  G  Y  P  S  R  A  S  F  H  E  L  Y  N  M  Y  K  K         p.720

          .         .         .         .         | 22         .    g.135863
 TATATGCCAGATAAACTTGCAAGATTGGATCCAAGACTATTTTGTAAG | GCTTTGTTTAAA    c.2220
 Y  M  P  D  K  L  A  R  L  D  P  R  L  F  C  K   | A  L  F  K      p.740

          .         .         .         .         .         .       g.135923
 GCTTTGGGCTTAAATGAAAATGACTACAAGTTTGGGTTAACCAAAGTATTTTTTAGACCT       c.2280
 A  L  G  L  N  E  N  D  Y  K  F  G  L  T  K  V  F  F  R  P         p.760

        | 23 .         .         .         .         .         .    g.137551
 GGCAAG | TTTGCAGAATTTGATCAGATCATGAAGTCTGACCCTGACCACTTAGCAGAGTTG    c.2340
 G  K   | F  A  E  F  D  Q  I  M  K  S  D  P  D  H  L  A  E  L      p.780

          .         .         .         .         .         .       g.137611
 GTTAAAAGAGTCAATCACTGGCTCACATGCAGTCGCTGGAAGAAAGTTCAGTGGTGCTCA       c.2400
 V  K  R  V  N  H  W  L  T  C  S  R  W  K  K  V  Q  W  C  S         p.800

          .       | 24 .         .         .         .         .    g.141856
 CTCTCAGTCATCAAAT | TGAAAAACAAAATAAAATATCGAGCTGAAGCCTGCATTAAAATG    c.2460
 L  S  V  I  K  L |   K  N  K  I  K  Y  R  A  E  A  C  I  K  M      p.820

          .         .         .         .        | 25.         .    g.142665
 CAAAAAACTATTCGAATGTGGCTTTGCAAGAGGAGACACAAACCTCG | CATTGATGGTCTG    c.2520
 Q  K  T  I  R  M  W  L  C  K  R  R  H  K  P  R  |  I  D  G  L      p.840

          .         .         .         .         .         .       g.142725
 GTTAAGGTGGGCACACTGAAAAAACGACTTGATAAATTTAATGAGGTAGTCAGTGTGTTG       c.2580
 V  K  V  G  T  L  K  K  R  L  D  K  F  N  E  V  V  S  V  L         p.860

          .         .         .         .         .         .       g.142785
 AAAGATGGAAAACCCGAGATGAATAAACAGATCAAGAATCTGGAAATTTCTATTGATACT       c.2640
 K  D  G  K  P  E  M  N  K  Q  I  K  N  L  E  I  S  I  D  T         p.880

          .         | 26         .         .         .         .    g.145907
 TTGATGGCCAAAATTAAG | TCCACTATGATGACGCAGGAACAAATCCAGAAAGAATATGAT    c.2700
 L  M  A  K  I  K   | S  T  M  M  T  Q  E  Q  I  Q  K  E  Y  D      p.900

          .         .         .         .         .         .       g.145967
 GCACTGGTTAAAAGCTCAGAGGAACTCCTCAGTGCATTACAGAAAAAAAAACAGCAGGAA       c.2760
 A  L  V  K  S  S  E  E  L  L  S  A  L  Q  K  K  K  Q  Q  E         p.920

          .         .         .         .         .         .       g.146027
 GAGGAAGCAGAAAGGCTGAGGCGTATTCAAGAAGAAATGGAAAAGGAAAGAAAAAGACGT       c.2820
 E  E  A  E  R  L  R  R  I  Q  E  E  M  E  K  E  R  K  R  R         p.940

          .         .         .         .        | 27.         .    g.147049
 GAAGAAGACGAAAAACGTCGAAGAAAGGAAGAGGAGGAAAGGCGGAT | GAAACTTGAGATG    c.2880
 E  E  D  E  K  R  R  R  K  E  E  E  E  R  R  M  |  K  L  E  M      p.960

          .         .         .         .         .         .       g.147109
 GAAGCAAAGAGAAAACAAGAAGAAGAAGAGAGAAAGAAAAGGGAAGATGATGAAAAACGC       c.2940
 E  A  K  R  K  Q  E  E  E  E  R  K  K  R  E  D  D  E  K  R         p.980

        | 28 .         .         .         .         .         .    g.148392
 ATTCAA | GCTGAAGTGGAGGCACAGCTGGCCCGACAGAAGGAGGAGGAATCCCAACAGCAA    c.3000
 I  Q   | A  E  V  E  A  Q  L  A  R  Q  K  E  E  E  S  Q  Q  Q      p.1000

          .         .         .         .         .         .       g.148452
 GCAGTTCTGGAGCAGGAGCGCAGGGACCGGGAGCTGGCCCTGAGGATTGCCCAGAGTGAA       c.3060
 A  V  L  E  Q  E  R  R  D  R  E  L  A  L  R  I  A  Q  S  E         p.1020

          .         .         .         .        | 29.         .    g.151052
 GCCGAGCTCATCAGTGATGAGGCCCAGGCCGACCTGGCGCTGCGGAG | AAATGATGGAACA    c.3120
 A  E  L  I  S  D  E  A  Q  A  D  L  A  L  R  R  |  N  D  G  T      p.1040

          .        | 30.         .         .         .       | 31 . g.163417
 AGACCCAAAATGACACC | GGAACAAATGGCCAAAGAAATGTCAGAATTTTTGAGTAG | AGGT c.3180
 R  P  K  M  T  P  |  E  Q  M  A  K  E  M  S  E  F  L  S  R  |  G   p.1060

          .         .         .         .         .         .       g.163477
 CCTGCTGTACTAGCCACCAAAGCAGCTGCTGGTACTAAGAAATATGATCTTAGTAAATGG       c.3240
 P  A  V  L  A  T  K  A  A  A  G  T  K  K  Y  D  L  S  K  W         p.1080

          .         .         .         . | 32       .         .    g.164324
 AAATATGCAGAACTACGTGATACCATCAATACTTCTTGTG | ATATTGAGCTCCTGGCAGCT    c.3300
 K  Y  A  E  L  R  D  T  I  N  T  S  C  D |   I  E  L  L  A  A      p.1100

          .         .         .         .         .         .       g.164384
 TGCAGAGAAGAATTTCATAGGAGACTAAAAGTGTATCATGCTTGGAAATCTAAGAACAAG       c.3360
 C  R  E  E  F  H  R  R  L  K  V  Y  H  A  W  K  S  K  N  K         p.1120

          .         .         .         .         .   | 33     .    g.167488
 AAGAGAAATACTGAAACAGAGCAACGTGCTCCAAAGTCTGTTACTGATTATG | ATTTTGCA    c.3420
 K  R  N  T  E  T  E  Q  R  A  P  K  S  V  T  D  Y  D |   F  A      p.1140

          .          | 34        .         .         .         .    g.169912
 CCATTTTTGAACAATTCAC | CTCAGCAAAACCCAGCAGCTCAGATTCCTGCCAGGCAGCGG    c.3480
 P  F  L  N  N  S  P |   Q  Q  N  P  A  A  Q  I  P  A  R  Q  R      p.1160

          .         .         .         .         .         .       g.169972
 GAGATTGAAATGAACCGACAGCAACGCTTCTTCCGCATCCCATTCATCCGCCCTGCCGAC       c.3540
 E  I  E  M  N  R  Q  Q  R  F  F  R  I  P  F  I  R  P  A  D         p.1180

          .         .         .         .         .         .       g.170032
 CAGTACAAAGACCCTCAGAGTAAGAAAAAAGGCTGGTGGTATGCCCATTTTGATGGACCA       c.3600
 Q  Y  K  D  P  Q  S  K  K  K  G  W  W  Y  A  H  F  D  G  P         p.1200

          .         .         .         .         .         | 35    g.170623
 TGGATTGCCCGGCAAATGGAACTCCATCCTGACAAGCCACCCATCCTACTTGTGGCTG | GT    c.3660
 W  I  A  R  Q  M  E  L  H  P  D  K  P  P  I  L  L  V  A  G |       p.1220

          .         .         .         .         .         .       g.170683
 AAGGACGACATGGAGATGTGTGAGCTGAATCTTGAGGAGACTGGCCTGACTCGGAAGCGT       c.3720
 K  D  D  M  E  M  C  E  L  N  L  E  E  T  G  L  T  R  K  R         p.1240

          .         .         .         .         .         .       g.170743
 GGTGCTGAGATCTTGCCAAGACAGTTTGAAGAAATCTGGGAACGCTGTGGAGGCATCCAG       c.3780
 G  A  E  I  L  P  R  Q  F  E  E  I  W  E  R  C  G  G  I  Q         p.1260

          .         .         .         .         .         .       g.170803
 TACCTTCAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTATGCAACAGCCATGCTG       c.3840
 Y  L  Q  N  A  I  E  S  R  Q  A  R  P  T  Y  A  T  A  M  L         p.1280

          .                                                         g.170821
 CAGAGTCTGTTAAAGTAG                                                 c.3858
 Q  S  L  L  K  X                                                   p.1285

          .         .         .         .         .         .       g.170881
 atgttgcacaccagccttacagctgggagcctttgccatggtacttaggtagggtgtgtg       c.*60

          .         .         .         .         .         .       g.170941
 cccccagatttaaccattccataatcatgttagagttacttctataaagtgaacagattt       c.*120

          .         .         .         .         .         .       g.171001
 tattaatcacggcttttggtgaatttgtttaaggttaattatggtagcaaattttggacc       c.*180

          .         .         .         .         .         .       g.171061
 taaacattatttttctgtatcccgctgtaattcccaaaactctcattattctctaactat       c.*240

          .         .         .         .         .         .       g.171121
 tacacatgggcatattctgatgtttctcatcctttgccagaagactaccttacatccatc       c.*300

          .         .         .         .         .         .       g.171181
 gtaattgttctctaggaaaagagaacttttttcaaaattcaaaatactttttaaggatgg       c.*360

          .         .         .         .         .         .       g.171241
 cacagtaccatataactggagtaataaaacatgagcttacattcttacaataactaaacc       c.*420

          .         .         .         .         .         .       g.171301
 acttaaaatgatcaaggcactaatgttttggtctgaaaagctgtgtactttatagacatt       c.*480

          .         .         .         .         .         .       g.171361
 ttcagacatttttggaaatttccattaaaggtggaaaatctatttttttcctcctttgca       c.*540

          .         .         .         .         .         .       g.171421
 gtgtcttagtttgaatgaaacacttcgaagttctagaattctagaaagagccttaatgta       c.*600

          .         .         .         .         .         .       g.171481
 tttgatgtattctgtgataagaggtactaatagtatccagcacagatttgcttttctttg       c.*660

          .         .         .         .         .         .       g.171541
 ctagcacaatgtgtgttgctgtcagaatattctttttatattctgtggaaaaataaagga       c.*720

          .         .         .         .         .         .       g.171601
 aattcagattgtttaaatgcctaaaagttttgagataagttttgtttcaattagaaaagg       c.*780

          .         .         .         .         .         .       g.171661
 aaataggttttaggtggcatagtggcttaactggactgaattcaaatattctttcaactt       c.*840

          .         .         .         .         .         .       g.171721
 catctcaatagtgatttttgtatcagaatcttgtccaagttgtttcattgatttagtaag       c.*900

          .         .         .         .         .         .       g.171781
 tgttctgcttccaacatctttctttttaagaaattcctagtgtcttttttggcctttgag       c.*960

          .         .         .         .         .         .       g.171841
 gttttggtaattgtagacctgtttcataagctttgtaattcagaaatccttgtatttagt       c.*1020

          .         .         .         .         .         .       g.171901
 aagtgcttgttttacataactgataattttaaaatgttttctttgtgtgctgttagtatt       c.*1080

          .         .         .         .         .         .       g.171961
 gattcaaatgtcagcagctttaagcctaatatttatgactttcacatttggaatttaaag       c.*1140

          .         .         .         .         .         .       g.172021
 acaaaaatacatcaaggagttatgctgacataattctaaggagttttgttgtattttaga       c.*1200

          .         .         .         .         .         .       g.172081
 ataaaattataaagtaaaatgattctctgtactgctttttcccccagtttttagagaccc       c.*1260

          .         .         .         .         .         .       g.172141
 taacctttgaaatgaaattccagtgatttcttttttccctagaaagattacctcagttag       c.*1320

          .         .         .         .         .         .       g.172201
 ggaagtatttcccagctgactagtgtttgtgagccacagacactgtcttcagaattgctt       c.*1380

          .         .         .         .         .         .       g.172261
 ctctcatgtcttagtagagaaatatttatttattatgatacattcaaatgattgtcaagt       c.*1440

          .         .         .         .         .         .       g.172321
 taaattaaatggttgtgtctgtgctattgagaatgcaaatgtgattatcttttgaaggct       c.*1500

          .         .         .         .         .         .       g.172381
 gtattactgcatagcttcacccaccctcgggtcatttcgtccctgtgattggggacagaa       c.*1560

          .         .         .         .         .         .       g.172441
 ggtgtagctactgaagtaaatgacctattctctctcttccatctctcgcctttaactggt       c.*1620

          .         .         .         .         .         .       g.172501
 gtttttatttgtgtaggatagtgaatgataagcttttttcctaaccagtagtgagtaaag       c.*1680

          .         .         .         .         .         .       g.172561
 ttcttgaacaaaatttagtagccaaattgttttttaatgacatgtctctttagtacaata       c.*1740

          .         .         .         .         .         .       g.172621
 gttttgtgtatcttttagatacattaataggcactagatggaaaattaaagagttaaaca       c.*1800

          .         .         .         .         .         .       g.172681
 tatttaaatgagagaatctaatgtttcagaaatttgtaagaaatgtatcacagcaaaggg       c.*1860

          .         .         .         .         .         .       g.172741
 ttgttataagtccttagtttttgactctaatagttaatacaattatagttaatcttaagc       c.*1920

          .         .         .         .         .         .       g.172801
 cataatgtttctaatcatgtcacacagctgtcctagaacttatctatttaaaatagtttc       c.*1980

          .         .         .         .         .         .       g.172861
 ctgagttaattttggccagcagggcaactgccctaattcagatagatttacagtaaccta       c.*2040

          .         .         .         .         .         .       g.172921
 cgtacagtagatgcacatacacacagacacccctttgctggagaaacttaggaccctgtc       c.*2100

          .         .         .         .         .         .       g.172981
 agccttttaaaggaaacagcaggagtggtgtcctaaatgatgttcatgcagctgctttac       c.*2160

          .         .         .         .         .         .       g.173041
 catgttcacagtcaagcccatgcatgccaggttaaaactgtggaaatcaaaagtaaattc       c.*2220

          .         .         .         .         .         .       g.173101
 actcatattttaatcattttaactgagatttaaaattagaagtttaaaccactatatata       c.*2280

          .         .         .         .         .         .       g.173161
 aagaactaatcttttcttaataccagttctttccatagcatatgctttgcaaaggcagca       c.*2340

          .         .         .         .         .         .       g.173221
 tgcataaaatatttaaaatgagaggacagaatgttttcacatttgattcaattttaatat       c.*2400

          .         .         .         .         .         .       g.173281
 aattcctaattgtggtaacacagttgagatatgtattatgagttatgggaactaattgag       c.*2460

          .         .         .         .         .         .       g.173341
 aaaaggaagttactctaatccacgtatgttaagagaatattgagttttcttagttgtaaa       c.*2520

          .         .         .         .         .         .       g.173401
 gttggggagatggcaccttctcagaggattgtgaaaatatgaggaagaaacaaaacagtg       c.*2580

          .         .         .         .         .         .       g.173461
 catgtaggagcacagggccacacaaaggcattctattgttatgctcattctgcttctgta       c.*2640

          .         .         .         .         .         .       g.173521
 atgacttttcataggtcattcttgtgaaccattttgttttgcaagcaaccaaggaaagaa       c.*2700

          .         .         .         .         .         .       g.173581
 catcttaagtggaaaatcagtggtggttgtgaacacttagagaatagcaatccacaggca       c.*2760

          .         .         .         .         .         .       g.173641
 agaataatggtattgtttgtagagctttattaattggatattttttaaaagacattttca       c.*2820

          .         .         .         .         .         .       g.173701
 ttcacaggtcattactatggttctcagcgatccaaatatgtagatcattggttttttttt       c.*2880

          .         .         .         .         .         .       g.173761
 ttacctgaagtagcttaagagtacttggatcagtagaataaatatttattgaatcaatca       c.*2940

          .         .         .         .         .         .       g.173821
 gtcagccaattaatatgatgttagtgatagacctgcctccttttatggaagaggtaacag       c.*3000

          .         .         .         .         .         .       g.173881
 atccagagaggtcaagtaatttagttgtagactgaaaaatatatcaaagcctttgctgca       c.*3060

          .         .         .         .         .         .       g.173941
 atcatatgtaacaaaaagaaccaaaacaaacactttttagtggcacctgtggatttacaa       c.*3120

          .         .         .         .         .         .       g.174001
 agggttgcctctctgtcattccacaacttcagaaggtgtgacaggttttccctatttatc       c.*3180

          .         .         .         .         .         .       g.174061
 attaccaataataacaagtattgagagttttaaaatttctcccagaagataaactaacaa       c.*3240

          .         .         .         .         .         .       g.174121
 ggatggaaggggagggcaaaggatatctaaacatgagaataaggacatgttagagggggg       c.*3300

          .         .         .         .         .         .       g.174181
 gaaacagttgtaacaataaggaaagagaagagcaacagtggaagagacaggttgtgtgcc       c.*3360

          .         .         .         .         .         .       g.174241
 cctaaagattctgcacccccagtttggaaacactgatacattttaggacacagagcactc       c.*3420

          .         .         .         .         .         .       g.174301
 ctagatctctacgaaattttagaatgaataatgtgtaatttataggatcagaacgtatgg       c.*3480

          .         .         .         .         .         .       g.174361
 ttattaaaacttggatcaagatatgcccggtgtatacattcttagcacataggaatggca       c.*3540

          .         .         .         .         .         .       g.174421
 ctgccatactggagaaggtcagcagtaaataggcattctgtacataagcctcatggaagg       c.*3600

          .         .         .         .         .         .       g.174481
 gtaagatggagagactggcagaagtagcacctactctgctgggagcacttctctgagtac       c.*3660

          .         .         .         .         .         .       g.174541
 gctttagttcaattcaaatcactgtattctttccccattgctaacctaatatatgaaaca       c.*3720

          .         .         .         .         .         .       g.174601
 agcttagctgtctcagaagtttttcaagagatgatcaggaaaaattaatgcacattcaaa       c.*3780

          .         .         .         .         .         .       g.174661
 aggagaatcttcagtacaaatttgtttttttaaaaatagatttagggctgggcgcggtgg       c.*3840

          .         .         .         .         .         .       g.174721
 ctcacgcctgtaatcccagcactttgggaggccgaggcgggtggatcacgaggtcaagac       c.*3900

          .         .         .         .         .         .       g.174781
 ttcgagaccagcctggccaacatggtgaaaccctgtctctactaaaaatacaaaacatta       c.*3960

          .         .         .         .         .         .       g.174841
 gccaggcgtggtagtgggtgcctgtaatccctgctacttgggaggctgaggcaggagaat       c.*4020

          .         .         .         .         .         .       g.174901
 cacttgaacgcgggaggcagaggttgcagggagccgagatggcgccattgcactccatcc       c.*4080

          .         .         .         .         .         .       g.174961
 tgggcaacaagagcgaaattccatctcaaaaaataaaatagatttagggggtacaagtgc       c.*4140

          .         .         .         .         .         .       g.175021
 agttttgttacatgggtatattgcatagtggtaaaatgtgggcttttagtgtacctaaca       c.*4200

          .         .         .         .         .         .       g.175081
 cccagagaagcatacattgtgcccagtaggtaatttttcatccctaaaccttttctcagc       c.*4260

          .         .         .         .         .         .       g.175141
 ctcccactttctggagtctccaatgtcggttattccactctttatgtccatatctacaca       c.*4320

          .         .         .         .         .         .       g.175201
 ttcaatcctaatttgtaccaagtagcatctcacctttaaatcacaggcttattagttggg       c.*4380

          .         .         .         .         .         .       g.175261
 tgttttctttttacttatgaaaattcatctagtcaaactgtcaattaatttttcctcatt       c.*4440

          .         .         .         .         .         .       g.175321
 tcattaaaagtgtatatctaatgctttctctaaaaattgatgtactggaaatacaaataa       c.*4500

          .         .                                               g.175346
 ataaatgctccctgtgtagaatttc                                          c.*4525

 (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 Myosin VI 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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