mutL homolog 3 (E. coli) (MLH3) - coding DNA reference sequence

(used for variant description)

(last modified August 22, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_001040108.1 in the MLH3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008649.1, covering MLH3 transcript NM_001040108.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5036
                         aacaactggtgcgcatgcgcactggtgtctcgcggc       c.-181

 .         .         .         .         .         .                g.5096
 ctggcgcgccccctccgaagcgcatgctcgtgggcacgcacgagcctcaagatccaaggt       c.-121

 .         .         .         .         .         .       | 02     g.6817
 gcgcgcgtcggcgtccgaggcggttggtgtcggagaatttgttaagcgggactccag | gca    c.-61

 .         .         .         .         .         .                g.6877
 attatttccagtcagagaaggaaaccagtgcctggcattctcaccatctttctacctacc       c.-1

          .         .         .         .         .         .       g.6937
 ATGATCAAGTGCTTGTCAGTTGAAGTACAAGCCAAATTGCGTTCTGGTTTGGCCATAAGC       c.60
 M  I  K  C  L  S  V  E  V  Q  A  K  L  R  S  G  L  A  I  S         p.20

          .         .         .         .         .         .       g.6997
 TCCTTGGGCCAATGTGTTGAGGAACTTGCCCTCAACAGTATTGATGCTGAAGCAAAATGT       c.120
 S  L  G  Q  C  V  E  E  L  A  L  N  S  I  D  A  E  A  K  C         p.40

          .         .         .         .         .         .       g.7057
 GTGGCTGTCAGGGTGAATATGGAAACCTTCCAAGTTCAAGTGATAGACAATGGATTTGGG       c.180
 V  A  V  R  V  N  M  E  T  F  Q  V  Q  V  I  D  N  G  F  G         p.60

          .         .         .         .         .         .       g.7117
 ATGGGGAGTGATGATGTAGAGAAAGTGGGAAATCGTTATTTCACCAGTAAATGCCACTCG       c.240
 M  G  S  D  D  V  E  K  V  G  N  R  Y  F  T  S  K  C  H  S         p.80

          .         .         .         .         .         .       g.7177
 GTACAGGACTTGGAGAATCCAAGGTTTTATGGTTTCCGAGGAGAGGCCTTGGCAAATATT       c.300
 V  Q  D  L  E  N  P  R  F  Y  G  F  R  G  E  A  L  A  N  I         p.100

          .         .         .         .         .         .       g.7237
 GCTGACATGGCCAGTGCTGTGGAAATTTCGTCCAAGAAAAACAGGACAATGAAAACTTTT       c.360
 A  D  M  A  S  A  V  E  I  S  S  K  K  N  R  T  M  K  T  F         p.120

          .         .         .         .         .         .       g.7297
 GTGAAACTGTTTCAGAGTGGAAAAGCCCTGAAAGCTTGTGAAGCTGATGTGACTAGAGCA       c.420
 V  K  L  F  Q  S  G  K  A  L  K  A  C  E  A  D  V  T  R  A         p.140

          .         .         .         .         .         .       g.7357
 AGCGCTGGGACTACTGTAACAGTGTATAACCTATTTTACCAGCTTCCTGTAAGGAGGAAA       c.480
 S  A  G  T  T  V  T  V  Y  N  L  F  Y  Q  L  P  V  R  R  K         p.160

          .         .         .         .         .         .       g.7417
 TGCATGGACCCTAGACTGGAGTTTGAGAAGGTTAGGCAGAGAATAGAAGCTCTCTCACTC       c.540
 C  M  D  P  R  L  E  F  E  K  V  R  Q  R  I  E  A  L  S  L         p.180

          .         .         .         .         .         .       g.7477
 ATGCACCCTTCCATTTCTTTCTCTTTGAGAAATGATGTTTCTGGTTCCATGGTTCTTCAG       c.600
 M  H  P  S  I  S  F  S  L  R  N  D  V  S  G  S  M  V  L  Q         p.200

          .         .         .         .         .         .       g.7537
 CTCCCTAAAACCAAAGACGTATGTTCCCGATTTTGTCAAATTTATGGATTGGGAAAGTCC       c.660
 L  P  K  T  K  D  V  C  S  R  F  C  Q  I  Y  G  L  G  K  S         p.220

          .         .         .         .         .         .       g.7597
 CAAAAGCTAAGAGAAATAAGTTTTAAATATAAAGAGTTTGAGCTTAGTGGCTATATCAGC       c.720
 Q  K  L  R  E  I  S  F  K  Y  K  E  F  E  L  S  G  Y  I  S         p.240

          .         .         .         .         .         .       g.7657
 TCTGAAGCACATTACAACAAGAATATGCAGTTTTTGTTTGTGAACAAAAGACTAGTTTTA       c.780
 S  E  A  H  Y  N  K  N  M  Q  F  L  F  V  N  K  R  L  V  L         p.260

          .         .         .         .         .         .       g.7717
 AGGACAAAGCTACATAAACTCATTGACTTTTTATTAAGGAAAGAAAGTATTATATGCAAG       c.840
 R  T  K  L  H  K  L  I  D  F  L  L  R  K  E  S  I  I  C  K         p.280

          .         .         .         .         .         .       g.7777
 CCAAAGAATGGTCCCACCAGTAGGCAAATGAATTCAAGTCTTCGGCACCGGTCTACCCCA       c.900
 P  K  N  G  P  T  S  R  Q  M  N  S  S  L  R  H  R  S  T  P         p.300

          .         .         .         .         .         .       g.7837
 GAACTCTATGGCATATATGTAATTAATGTGCAGTGCCAATTCTGTGAGTATGATGTGTGC       c.960
 E  L  Y  G  I  Y  V  I  N  V  Q  C  Q  F  C  E  Y  D  V  C         p.320

          .         .         .         .         .         .       g.7897
 ATGGAGCCAGCCAAAACTCTGATTGAATTTCAGAACTGGGACACTCTCTTGTTTTGCATT       c.1020
 M  E  P  A  K  T  L  I  E  F  Q  N  W  D  T  L  L  F  C  I         p.340

          .         .         .         .         .         .       g.7957
 CAGGAAGGAGTGAAAATGTTTTTAAAGCAAGAAAAATTATTTGTGGAATTATCAGGTGAG       c.1080
 Q  E  G  V  K  M  F  L  K  Q  E  K  L  F  V  E  L  S  G  E         p.360

          .         .         .         .         .         .       g.8017
 GATATTAAGGAATTTAGTGAAGATAATGGTTTTAGTTTATTTGATGCTACTCTTCAGAAG       c.1140
 D  I  K  E  F  S  E  D  N  G  F  S  L  F  D  A  T  L  Q  K         p.380

          .         .         .         .         .         .       g.8077
 CGTGTGACTTCCGATGAGAGGAGCAATTTCCAGGAAGCATGTAATAATATTTTAGATTCC       c.1200
 R  V  T  S  D  E  R  S  N  F  Q  E  A  C  N  N  I  L  D  S         p.400

          .         .         .         .         .         .       g.8137
 TATGAGATGTTTAATTTGCAGTCAAAAGCTGTGAAAAGAAAAACTACTGCAGAAAACGTA       c.1260
 Y  E  M  F  N  L  Q  S  K  A  V  K  R  K  T  T  A  E  N  V         p.420

          .         .         .         .         .         .       g.8197
 AACACACAGAGTTCTAGGGATTCAGAAGCTACCAGAAAAAATACAAATGATGCATTTTTG       c.1320
 N  T  Q  S  S  R  D  S  E  A  T  R  K  N  T  N  D  A  F  L         p.440

          .         .         .         .         .         .       g.8257
 TACATTTATGAATCAGGTGGTCCAGGCCATAGCAAAATGACAGAGCCATCTTTACAAAAC       c.1380
 Y  I  Y  E  S  G  G  P  G  H  S  K  M  T  E  P  S  L  Q  N         p.460

          .         .         .         .         .         .       g.8317
 AAAGACAGCTCTTGCTCAGAATCAAAGATGTTAGAACAAGAGACAATTGTAGCATCAGAA       c.1440
 K  D  S  S  C  S  E  S  K  M  L  E  Q  E  T  I  V  A  S  E         p.480

          .         .         .         .         .         .       g.8377
 GCTGGAGAAAATGAGAAACATAAAAAATCTTTCCTGGAACATAGCTCTTTAGAAAATCCG       c.1500
 A  G  E  N  E  K  H  K  K  S  F  L  E  H  S  S  L  E  N  P         p.500

          .         .         .         .         .         .       g.8437
 TGTGGAACCAGTTTAGAAATGTTTTTAAGCCCTTTTCAGACACCATGTCACTTTGAGGAG       c.1560
 C  G  T  S  L  E  M  F  L  S  P  F  Q  T  P  C  H  F  E  E         p.520

          .         .         .         .         .         .       g.8497
 AGTGGGCAGGATCTAGAAATATGGAAAGAAAGTACTACTGTTAATGGCATGGCTGCCAAC       c.1620
 S  G  Q  D  L  E  I  W  K  E  S  T  T  V  N  G  M  A  A  N         p.540

          .         .         .         .         .         .       g.8557
 ATCTTGAAAAATAATAGAATTCAGAATCAACCAAAGAGATTTAAAGATGCTACTGAAGTG       c.1680
 I  L  K  N  N  R  I  Q  N  Q  P  K  R  F  K  D  A  T  E  V         p.560

          .         .         .         .         .         .       g.8617
 GGATGCCAGCCTCTGCCTTTTGCAACAACATTATGGGGAGTACATAGTGCTCAGACAGAG       c.1740
 G  C  Q  P  L  P  F  A  T  T  L  W  G  V  H  S  A  Q  T  E         p.580

          .         .         .         .         .         .       g.8677
 AAAGAGAAAAAAAAAGAATCTAGCAATTGTGGAAGAAGAAATGTTTTTAGTTATGGGCGA       c.1800
 K  E  K  K  K  E  S  S  N  C  G  R  R  N  V  F  S  Y  G  R         p.600

          .         .         .         .         .         .       g.8737
 GTTAAATTATGTTCCACTGGCTTTATAACTCATGTAGTACAAAATGAAAAAACTAAATCA       c.1860
 V  K  L  C  S  T  G  F  I  T  H  V  V  Q  N  E  K  T  K  S         p.620

          .         .         .         .         .         .       g.8797
 ACTGAAACAGAACATTCATTTAAAAATTATGTTAGACCTGGTCCCACACGTGCCCAAGAA       c.1920
 T  E  T  E  H  S  F  K  N  Y  V  R  P  G  P  T  R  A  Q  E         p.640

          .         .         .         .         .         .       g.8857
 ACATTTGGAAATAGAACACGTCATTCAGTTGAAACTCCAGACATCAAAGATTTAGCCAGC       c.1980
 T  F  G  N  R  T  R  H  S  V  E  T  P  D  I  K  D  L  A  S         p.660

          .         .         .         .         .         .       g.8917
 ACTTTAAGTAAAGAATCTGGTCAATTGCCCAACAAAAAAAATTGCAGAACGAATATAAGT       c.2040
 T  L  S  K  E  S  G  Q  L  P  N  K  K  N  C  R  T  N  I  S         p.680

          .         .         .         .         .         .       g.8977
 TATGGGCTAGAGAATGAACCTACAGCAACTTATACAATGTTTTCTGCTTTTCAGGAAGGT       c.2100
 Y  G  L  E  N  E  P  T  A  T  Y  T  M  F  S  A  F  Q  E  G         p.700

          .         .         .         .         .         .       g.9037
 AGCAAAAAATCACAAACAGATTGCATATTATCTGATACATCCCCCTCTTTCCCCTGGTAT       c.2160
 S  K  K  S  Q  T  D  C  I  L  S  D  T  S  P  S  F  P  W  Y         p.720

          .         .         .         .         .         .       g.9097
 AGACACGTTTCCAATGATAGTAGGAAAACAGATAAATTAATTGGTTTCTCCAAACCAATC       c.2220
 R  H  V  S  N  D  S  R  K  T  D  K  L  I  G  F  S  K  P  I         p.740

          .         .         .         .         .         .       g.9157
 GTCCGTAAGAAGCTAAGCTTGAGTTCACAGCTAGGATCTTTAGAGAAGTTTAAGAGGCAA       c.2280
 V  R  K  K  L  S  L  S  S  Q  L  G  S  L  E  K  F  K  R  Q         p.760

          .         .         .         .         .         .       g.9217
 TATGGGAAGGTTGAAAATCCTCTGGATACAGAAGTAGAGGAAAGTAATGGAGTCACTACC       c.2340
 Y  G  K  V  E  N  P  L  D  T  E  V  E  E  S  N  G  V  T  T         p.780

          .         .         .         .         .         .       g.9277
 AATCTCAGTCTTCAAGTTGAACCTGACATTCTGCTGAAGGACAAGAACCGCTTAGAGAAC       c.2400
 N  L  S  L  Q  V  E  P  D  I  L  L  K  D  K  N  R  L  E  N         p.800

          .         .         .         .         .         .       g.9337
 TCTGATGTTTGTAAAATCACTACTATGGAGCATAGTGATTCAGATAGTAGTTGTCAACCA       c.2460
 S  D  V  C  K  I  T  T  M  E  H  S  D  S  D  S  S  C  Q  P         p.820

          .         .         .         .         .         .       g.9397
 GCAAGCCACATCCTTAACTCAGAGAAGTTTCCATTCTCCAAGGATGAAGATTGTTTAGAA       c.2520
 A  S  H  I  L  N  S  E  K  F  P  F  S  K  D  E  D  C  L  E         p.840

          .         .         .         .         .         .       g.9457
 CAACAGATGCCTAGTTTGAGAGAAAGTCCTATGACCCTGAAGGAGTTATCTCTCTTTAAT       c.2580
 Q  Q  M  P  S  L  R  E  S  P  M  T  L  K  E  L  S  L  F  N         p.860

          .         .         .         .         .         .       g.9517
 AGAAAACCTTTGGACCTTGAGAAGTCATCTGAATCACTAGCCTCTAAATTATCCAGACTG       c.2640
 R  K  P  L  D  L  E  K  S  S  E  S  L  A  S  K  L  S  R  L         p.880

          .         .         .         .         .         .       g.9577
 AAGGGTTCCGAAAGAGAAACTCAAACAATGGGGATGATGAGTCGTTTTAATGAACTTCCA       c.2700
 K  G  S  E  R  E  T  Q  T  M  G  M  M  S  R  F  N  E  L  P         p.900

          .         .         .         .         .         .       g.9637
 AATTCAGATTCCAGTAGGAAAGACAGCAAGTTGTGCAGTGTGTTAACACAAGATTTTTGT       c.2760
 N  S  D  S  S  R  K  D  S  K  L  C  S  V  L  T  Q  D  F  C         p.920

          .         .         .         .         .         .       g.9697
 ATGTTATTTAACAACAAGCATGAAAAAACAGAGAATGGTGTCATCCCAACATCAGATTCT       c.2820
 M  L  F  N  N  K  H  E  K  T  E  N  G  V  I  P  T  S  D  S         p.940

          .         .         .         .         .         .       g.9757
 GCCACACAGGATAATTCCTTTAATAAAAATAGTAAAACACATTCTAACAGCAATACAACA       c.2880
 A  T  Q  D  N  S  F  N  K  N  S  K  T  H  S  N  S  N  T  T         p.960

          .         .         .         .         .         .       g.9817
 GAGAACTGTGTGATATCAGAAACTCCTTTGGTATTGCCCTATAATAATTCTAAAGTTACC       c.2940
 E  N  C  V  I  S  E  T  P  L  V  L  P  Y  N  N  S  K  V  T         p.980

          .         .         .         .         .         .       g.9877
 GGTAAAGATTCAGATGTTCTTATCAGAGCCTCAGAACAACAGATAGGAAGTCTTGACTCT       c.3000
 G  K  D  S  D  V  L  I  R  A  S  E  Q  Q  I  G  S  L  D  S         p.1000

          .         .         .         .         .         .       g.9937
 CCCAGTGGAATGTTAATGAATCCGGTAGAAGATGCCACAGGTGACCAAAATGGAATTTGT       c.3060
 P  S  G  M  L  M  N  P  V  E  D  A  T  G  D  Q  N  G  I  C         p.1020

          .         .         .         .         .         .       g.9997
 TTTCAGAGTGAGGAATCTAAAGCAAGAGCTTGTTCTGAAACTGAAGAGTCAAACACGTGT       c.3120
 F  Q  S  E  E  S  K  A  R  A  C  S  E  T  E  E  S  N  T  C         p.1040

          .         .         .         .         .         .       g.10057
 TGTTCAGATTGGCAGCGGCATTTCGATGTAGCCCTGGGAAGAATGGTTTATGTCAACAAA       c.3180
 C  S  D  W  Q  R  H  F  D  V  A  L  G  R  M  V  Y  V  N  K         p.1060

          .         .         .         .         .         .       g.10117
 ATGACTGGACTCAGCACATTCATTGCCCCAACTGAGGACATTCAGGCTGCTTGTACTAAA       c.3240
 M  T  G  L  S  T  F  I  A  P  T  E  D  I  Q  A  A  C  T  K         p.1080

          .         .         .         . | 03       .         .    g.14075
 GACCTGACAACTGTGGCTGTGGATGTTGTACTTGAGAATG | GGTCTCAGTACAGGTGTCAA    c.3300
 D  L  T  T  V  A  V  D  V  V  L  E  N  G |   S  Q  Y  R  C  Q      p.1100

          .         .         .         .         .         .       g.14135
 CCTTTTAGAAGCGACCTTGTTCTTCCTTTCCTTCCGAGAGCTCGAGCAGAGAGGACTGTG       c.3360
 P  F  R  S  D  L  V  L  P  F  L  P  R  A  R  A  E  R  T  V         p.1120

          .          | 04        .         .         .         .    g.14873
 ATGAGACAGGATAACAGAG | ATACTGTGGATGATACTGTTAGTAGCGAATCGCTTCAGTCT    c.3420
 M  R  Q  D  N  R  D |   T  V  D  D  T  V  S  S  E  S  L  Q  S      p.1140

          .         .         .         .      | 05  .         .    g.16532
 TTGTTCTCAGAATGGGACAATCCAGTATTTGCCCGTTATCCAGAG | GTTGCTGTTGATGTA    c.3480
 L  F  S  E  W  D  N  P  V  F  A  R  Y  P  E   | V  A  V  D  V      p.1160

          .         .         .         .         .         .       g.16592
 AGCAGTGGCCAGGCTGAGAGCTTAGCAGTTAAAATTCACAACATCTTGTATCCCTATCGT       c.3540
 S  S  G  Q  A  E  S  L  A  V  K  I  H  N  I  L  Y  P  Y  R         p.1180

          .         .         . | 06       .         .         .    g.18150
 TTCACCAAAGGAATGATTCATTCAATGCAG | GTTCTCCAGCAAGTAGATAACAAGTTTATT    c.3600
 F  T  K  G  M  I  H  S  M  Q   | V  L  Q  Q  V  D  N  K  F  I      p.1200

          .         .         .         .    | 07    .         .    g.23059
 GCCTGTTTGATGAGCACTAAGACTGAAGAGAATGGCGAGGCAG | GTGGGAACCTGCTCGTG    c.3660
 A  C  L  M  S  T  K  T  E  E  N  G  E  A  G |   G  N  L  L  V      p.1220

          .         .         .         .         .      | 08  .    g.24358
 CTGGTGGATCAGCACGCTGCCCATGAGCGTATACGTCTGGAGCAGCTTATCATTG | ATTCC    c.3720
 L  V  D  Q  H  A  A  H  E  R  I  R  L  E  Q  L  I  I  D |   S      p.1240

          .         .         .         .         .         .       g.24418
 TACGAGAAGCAACAGGCACAAGGCTCTGGTCGGAAAAAATTACTGTCTTCTACTCTAATT       c.3780
 Y  E  K  Q  Q  A  Q  G  S  G  R  K  K  L  L  S  S  T  L  I         p.1260

          .         .         .         .        | 09.         .    g.25843
 CCTCCGCTAGAGATAACAGTGACAGAGGAACAAAGGAGACTCTTATG | GTGTTACCACAAA    c.3840
 P  P  L  E  I  T  V  T  E  E  Q  R  R  L  L  W  |  C  Y  H  K      p.1280

          .         .         .         .         .         .       g.25903
 AATCTGGAAGATCTGGGCCTTGAATTTGTATTTCCAGACACTAGTGATTCTCTGGTCCTT       c.3900
 N  L  E  D  L  G  L  E  F  V  F  P  D  T  S  D  S  L  V  L         p.1300

          .         .         .         .         .         .       g.25963
 GTGGGAAAAGTACCACTATGTTTTGTGGAAAGAGAAGCCAATGAACTTCGGAGAGGAAGA       c.3960
 V  G  K  V  P  L  C  F  V  E  R  E  A  N  E  L  R  R  G  R         p.1320

          .         .        | 10.         .         .  | 11      . g.33649
 TCTACTGTGACCAAGAGTATTGTGGAG | GAATTTATCCGAGAACAACTGGAG | CTACTCCAG c.4020
 S  T  V  T  K  S  I  V  E   | E  F  I  R  E  Q  L  E   | L  L  Q   p.1340

          .         .         .         .         .         .       g.33709
 ACCACCGGAGGCATCCAAGGGACATTGCCACTGACTGTCCAGAAGGTGTTGGCATCCCAA       c.4080
 T  T  G  G  I  Q  G  T  L  P  L  T  V  Q  K  V  L  A  S  Q         p.1360

          . | 12       .         .         .         .         .    g.37602
 GCCTGCCATG | GGGCCATTAAGTTTAATGATGGCCTGAGCTTACAGGAAAGTTGCCGCCTT    c.4140
 A  C  H  G |   A  I  K  F  N  D  G  L  S  L  Q  E  S  C  R  L      p.1380

          .         .         .         .         .         .       g.37662
 ATTGAAGCTCTGTCCTCATGCCAGCTGCCATTCCAGTGTGCTCACGGGAGACCTTCTATG       c.4200
 I  E  A  L  S  S  C  Q  L  P  F  Q  C  A  H  G  R  P  S  M         p.1400

          .         .         .         .   | 13     .         .    g.39349
 CTGCCGTTAGCTGACATAGACCACTTGGAACAGGAAAAACAG | ATTAAACCCAACCTCACT    c.4260
 L  P  L  A  D  I  D  H  L  E  Q  E  K  Q   | I  K  P  N  L  T      p.1420

          .         .         .         .         .         .       g.39409
 AAACTTCGCAAAATGGCCCAGGCCTGGCGTCTCTTTGGAAAAGCAGAGTGTGATACAAGG       c.4320
 K  L  R  K  M  A  Q  A  W  R  L  F  G  K  A  E  C  D  T  R         p.1440

          .         .         .         .                           g.39451
 CAGAGCCTGCAGCAATCCATGCCTCCCTGTGAGCCACCATGA                         c.4362
 Q  S  L  Q  Q  S  M  P  P  C  E  P  P  X                           p.1453

          .         .         .         .         .         .       g.39511
 gaacagaatcactggtctaaaaggaacaaagggatgttcactgtatgcctctgagcagag       c.*60

          .         .         .         .         .         .       g.39571
 agcagcagcagcaggtaccagcacggccctgactgaatcagcccagtgtccctgagcagc       c.*120

          .         .         .         .         .         .       g.39631
 ttagacagcagggctctctgtatcagtctttcttgagcagatgattcccctagttgagta       c.*180

          .         .         .         .         .         .       g.39691
 gccagatgaaattcaagcctaaagacaattcattcatttgcatccatgggcacagaaggt       c.*240

          .         .         .         .         .         .       g.39751
 tgctatatagtatctaccttttgctacttatttaatgataaaatttaatgacagtttgat       c.*300

          .         .         .         .         .         .       g.39811
 tggttgcttggtttgttatttgaagggtgtgatttttgtttttgtacagttttttttcaa       c.*360

          .         .         .         .         .         .       g.39871
 gcttcacatttgcgtgtatctaattcagctgatgctcaagtccaaggggtagtctgcctt       c.*420

          .         .         .         .         .         .       g.39931
 cccaggctgcccccagggtttctgcactggtcccctcttttcccttcagtcttcttcact       c.*480

          .         .         .         .         .         .       g.39991
 tccctatgctgctgcttcatgtgctacatctcagacttaaagagtttctctactacagtg       c.*540

          .         .         .         .         .         .       g.40051
 aaaacattctctagggtctttcatcaggcctttagttattttagggataaaaactattga       c.*600

          .         .         .         .         .         .       g.40111
 taaaaaggacaaggatagaacagagaaaatttaaagtcctgttccgggttttttgttatg       c.*660

          .         .         .         .         .         .       g.40171
 ttttctttaaaaactcagagactgatgttcaatatcccaaaccagtaaaatggtgaaaat       c.*720

          .         .         .         .         .         .       g.40231
 actatgagcttgttttttaaaatatgattttttttggtactttataaagtatctctttat       c.*780

          .         .         .         .         .         .       g.40291
 gtgaaagcaattgtcatatcaaaacacagcatacatacgttcaacctaaccaaatatctt       c.*840

          .         .         .         .         .         .       g.40351
 tacactttttctttcaggagacaagggttctttgggtccctttcaaacggtatcttggtg       c.*900

          .         .         .         .         .         .       g.40411
 ttattacattatgcctatctattgcccttataatatcacttgggaccaggactgatcgtt       c.*960

          .         .         .         .         .         .       g.40471
 ctgcaaatgcttgttatgccattctcaatctatttttcccgcaccttttcacatgatttg       c.*1020

          .         .         .         .         .         .       g.40531
 tggttaataggactcaacagactaaaattgcatagtagaaaaaaaatgcaaaaagccagc       c.*1080

          .         .         .         .         .         .       g.40591
 tggtaatgtttattgcaactggggtgctatacaattagtaagatgatgcaatgagaattt       c.*1140

          .         .         .         .         .         .       g.40651
 ctacttttgtatttcctgaccagcctgctcaaagtggcttttatatcaattgaatgattt       c.*1200

          .         .         .         .         .         .       g.40711
 tcctcattttttaatacaggaaaccaattcgtgctcatggaagaaaagttcctttgccag       c.*1260

          .         .         .         .         .         .       g.40771
 cagccttgaagtgaatcttacaggagcaatgaaagtattgcattcattagcgtctgcccc       c.*1320

          .         .         .         .         .         .       g.40831
 agagaaggttcagagaaaaccttcacttgttttcaaggggatccttgtagatttacgtaa       c.*1380

          .         .         .         .         .         .       g.40891
 ttggaatcctgaagaacaggccctactgtctaaaaaatggcttttattcttctaaataca       c.*1440

          .         .         .         .         .         .       g.40951
 tataaacggatgttttatagatgggaagacatgaccttagaaaggagagagttttcagag       c.*1500

          .         .         .         .         .         .       g.41011
 gatttgccaggctgtcaggggctctgcctccaggcccagtgtggcagtgtggcctcaggg       c.*1560

          .         .         .         .         .         .       g.41071
 cctccgcctccctgcttgagggctgcatggaggccaactgtcctgggagttgtaaaaatc       c.*1620

          .         .         .         .         .         .       g.41131
 ttttaaggccagaccaatttgagggattttaaaaagtgtctcagtgcctcttatgatttc       c.*1680

          .         .         .         .         .         .       g.41191
 agaaggttttgctatatgtaatcccaactactgttttcttgagagtagcagaggattaga       c.*1740

          .         .         .         .         .         .       g.41251
 aaaagtcctccataaattatgtaaccggccttcctgactagcctgactcaagcaatgtaa       c.*1800

          .         .         .         .         .         .       g.41311
 gagataattattctgttttcataatttataagtgtgggggcatgcctcagcataaaaaca       c.*1860

          .         .         .         .         .         .       g.41371
 acctattagggaaaaatatctaatagattacctttatcgcctgttagggttttatgttgt       c.*1920

          .         .         .         .         .         .       g.41431
 ttttaactcagatgccataagaacaaagatacatgtaatttataatagtaatcattaata       c.*1980

          .         .         .         .         .         .       g.41491
 cctatattgtgctttaaggtttacaaaataatttttctcatactttatcttagtttagtt       c.*2040

          .         .         .         .         .         .       g.41551
 tcttgacagtccatgaggtaaggtggtagctttatcaccattttacaaagtgggaaacga       c.*2100

          .         .         .         .         .         .       g.41611
 aggttcctcttaggaacctagttgtcacctttgtataataaaacttcgaagctcggagct       c.*2160

          .         .         .         .         .         .       g.41671
 gttaactggtttgctgaaggcttagctgtaagagccagaattcagacccaggtctgagtg       c.*2220

          .         .         .         .         .         .       g.41731
 acttcaaactgcacagtccttcccattattacccatatgctatcccttatatttttaatt       c.*2280

          .         .         .         .         .         .       g.41791
 tattaggaattcattcatttataaacttggtgattcacctttattagattctggtcgctg       c.*2340

          .         .         .         .         .         .       g.41851
 aaggctttagtaacttcagagtaaaacttgagagatgagatgtaaaatgcagccattctt       c.*2400

          .         .         .         .         .         .       g.41911
 gagagttcctttttctgtaacattcatcaacacttcattgagaagtgaaggttcctatgg       c.*2460

          .         .         .         .         .         .       g.41971
 ctgtctctaccttcaagaggcttagctttagtcactgagaaagacaaggaaactaatgat       c.*2520

          .         .         .         .         .         .       g.42031
 agaatatagtagcttcttctggcgttaggtatcacagagtcacagctagttacagctagc       c.*2580

          .         .         .         .         .         .       g.42091
 cctttattattgaaagaagaggagctagcagtcccactatcagaattaagactagagatg       c.*2640

          .         .         .         .         .         .       g.42151
 gtaataggagctagtatcagaaaagcttaaggcaaagcataaagtgtaggctagaatgaa       c.*2700

          .         .         .         .         .         .       g.42211
 gctggagaatggggagggggcttgggtaacatccagaacctggctggggacctggaacta       c.*2760

          .         .         .         .         .         .       g.42271
 catgagatgtaagaatggagaggttctagcagtcagaggtcaggtacaaatgaacagctg       c.*2820

          .         .         .         .         .         .       g.42331
 ggatctgcgcatggcagacagtgaaaaaacccaggcaagcaaaatggtcagagcagaaag       c.*2880

          .         .         .         .         .         .       g.42391
 gggcccaaggccacgttcttgagatgtggagggggctgaggaagccacgccaagtaagga       c.*2940

          .         .         .         .         .         .       g.42451
 cagatgcagctcagcagttcctagcgagccctgacaagccagctcagctgaagcttcggg       c.*3000

          .         .         .         .         .         .       g.42511
 tgggagccagtcatggcacagtggagtgaaggaagagcagtttcaggcacccaaaacctg       c.*3060

          .         .         .         .         .         .       g.42571
 acccccacgacctgttttccacctgaagagccacccattccatccaaacccttggcaaaa       c.*3120

          .         .         .         .         .         .       g.42631
 gtctgctaacagagagaaccggccagtatgctggccagtcgcgatcatgcctgtctttac       c.*3180

          .         .         .         .         .         .       g.42691
 cctctaagctgaagctgctcatcaacggtgagatggcaaaaaggtgggtccagaagaggg       c.*3240

          .         .         .         .         .         .       g.42751
 gaaaagaagggagtctgtgaaaacaaaatgctgaagaatctgcatcaaataaacccttcc       c.*3300

          .                                                         g.42769
 ttccttcctttttccttc                                                 c.*3318

 (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 MutL homolog 3 (E. coli) 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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