Ellis van Creveld syndrome 2 (EVC2) - 8168 nt intron 17 reference sequence

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.129986
gtgagtgcaggcgctgggaaggagagggggacagagctgggtctttctggtacctacctc  c.3057+60

         .         .         .         .         .         .  g.130046
tgcatcttcctctatgaaacaggctgcaacccccgtcctgtctgtgctgtggggttgtgg  c.3057+120

         .         .         .         .         .         .  g.130106
tgaggattaaacgaagtgacatattggagagtacttggcactctctcaaccaaagatggc  c.3057+180

         .         .         .         .         .         .  g.130166
tctatttcattgctctgagaagcaacccttttggattttaacatctctgaaacttggcag  c.3057+240

         .         .         .         .         .         .  g.130226
gtgccatgggttcattggcagtattgtttctttcattgtgctagggaggacaacagtgta  c.3057+300

         .         .         .         .         .         .  g.130286
tcttcctattagcagcatcctaaatgcaacagtgtactgggttatttattatttaaaaaa  c.3057+360

         .         .         .         .         .         .  g.130346
ttctaattattagcattatcgcaacatgctacattctttccaaaatgtgagaggtatatc  c.3057+420

         .         .         .         .         .         .  g.130406
cgtaaaacaaaagctatggtaataactgttttggtgactaattttaggtcttttatgtgt  c.3057+480

         .         .         .         .         .         .  g.130466
agattttagaatttcatttgttatctattattatcataattacttataataaggaaaaaa  c.3057+540

         .         .         .         .         .         .  g.130526
cccctcacatttattgaaaccctagtatggggagggaagcgctactaagttgtaaataga  c.3057+600

         .         .         .         .         .         .  g.130586
catgctctcacttcagtgttaataattctttacttagttatacttattaaggcaggagaa  c.3057+660

         .         .         .         .         .         .  g.130646
tcgcttgaacccaggagatggaggctgcagggagctgagatcatgccactacactccagc  c.3057+720

         .         .         .         .         .         .  g.130706
ctgggtgagacagagcaagactccgtctcaaaaaaaaaaaaactgtgtttcttctgaagt  c.3057+780

         .         .         .         .         .         .  g.130766
acagcataaacaaaataaaaaacaaaactaccatagaattgataaagtgaagagattttt  c.3057+840

         .         .         .         .         .         .  g.130826
ttttgaaaaaagtctaataaaatatacaaacccttggcaagagcaaccattaaaaaatat  c.3057+900

         .         .         .         .         .         .  g.130886
aaaagacaataatattaagagtataaaaagcaacacgactatagatgcagtagagttttt  c.3057+960

         .         .         .         .         .         .  g.130946
taaaataagagaatgttatgaacaactttatacagatgaattcaaaaactgaaatgaatt  c.3057+1020

         .         .         .         .         .         .  g.131006
caaaaactagaaaaatgcaaatcaccaaaattggctcaagtagaaaaaaaaagtctgata  c.3057+1080

         .         .         .         .         .         .  g.131066
accctcttgccatgaaagaaattgattcagtactttaaaatcttccaaaccacacaaaag  c.3057+1140

         .         .         .         .         .         .  g.131126
acacccaactccagtagtttcgtagatgagcattgccaaagtttaaggtattttgccagt  c.3057+1200

         .         .         .         .         .         .  g.131186
ctcatatatgaattattccttgtattagaaaaataggcaatattcctcaactcattttat  c.3057+1260

         .         .         .         .         .         .  g.131246
catgctagataactttaacaccaaaaccagacatgaacagtaccagaaagaacaattata  c.3057+1320

         .         .         .         .         .         .  g.131306
cttcaatcttgcatgtgaacatagatgtaccatttgaaaacaaaatagcagaatacagcc  c.3057+1380

         .         .         .         .         .         .  g.131366
atctataaaaaattaatacattatggacaggttgggtttattctagaaatataaggttgg  c.3057+1440

         .         .         .         .         .         .  g.131426
tttaacattaaaacatccatttacaaaattcacctgattaacaaattaaaggggagtgac  c.3057+1500

         .         .         .         .         .         .  g.131486
tcatgtgatcattttagtatatagagaatatgtctttatattagtctgttcttgcattgc  c.3057+1560

         .         .         .         .         .         .  g.131546
tataagaaataccctgagactgggtaatttataaaggaaagaggtttaattggctcatgg  c.3057+1620

         .         .         .         .         .         .  g.131606
ttccacaggctatacaggaagcctgatgcatctgcccagcttctggggaggactcaggaa  c.3057+1680

         .         .         .         .         .         .  g.131666
acttacaatcatggtagaaggtgaaggggaagcaggcatgtcttacatagccagagcagg  c.3057+1740

         .         .         .         .         .         .  g.131726
aggaagagaagtagggggaggtgccacacacttttaaacaaccagatctcataataactc  c.3057+1800

         .         .         .         .         .         .  g.131786
catcacgagaacagcaccgaagggatcgtgctgaacaattcatgaaggacccccgtgatc  c.3057+1860

         .         .         .         .         .         .  g.131846
cagtcacctcccaccaagctccacctgcaacattggggattacaattcaacatgagatgt  c.3057+1920

         .         .         .         .         .         .  g.131906
agtcccacccaaataccatgttcttctcacatttcaaaatataatcatgccttcccaaca  c.3057+1980

         .         .         .         .         .         .  g.131966
gtcccctagagtcttaactcattccagcattaactcaaaagtccaaagtccaaagtctca  c.3057+2040

         .         .         .         .         .         .  g.132026
tctgagacaattataagtccattccacctatgagcctataaattaaaaaacaagttagtt  c.3057+2100

         .         .         .         .         .         .  g.132086
acttccagtgatgcaatggagttataggcactgggtaaatattcctgttccaaaaaggag  c.3057+2160

         .         .         .         .         .         .  g.132146
aaattggccaaaagaaaggggctataggccccaggcaagtctgaaatgcaggatggtagt  c.3057+2220

         .         .         .         .         .         .  g.132206
catcaaatcttaaagctccaaaacaatctcctttgactccatgtctcatattcagaacat  c.3057+2280

         .         .         .         .         .         .  g.132266
gctggtccaagggatgggctcccaaagccttgggcagctcagcccctgtgactttggagg  c.3057+2340

         .         .         .         .         .         .  g.132326
atttagccccaacagctgctctcaagggctggtgttgagtgcctgcaatatttctaggca  c.3057+2400

         .         .         .         .         .         .  g.132386
caggatacaagctgtcagtggatctatcattccagaatctagaggatagcagccccctta  c.3057+2460

         .         .         .         .         .         .  g.132446
tcacagctccactaggcagtgtctcaatggggactctgtgtgggggctccaaccccacat  c.3057+2520

         .         .         .         .         .         .  g.132506
ttcccctccacactgccctagcagaggttctccatgagggctctgccccagcagaaggct  c.3057+2580

         .         .         .         .         .         .  g.132566
tctgcctggacattgtgacttttccatatatcctctgaaatctaggcggaggctcccaag  c.3057+2640

         .         .         .         .         .         .  g.132626
acccaactctttcattctgtgcacctgcaggcttaacaccacatggaagctgccaaggct  c.3057+2700

         .         .         .         .         .         .  g.132686
tacagtttgcatcttctgagcagtggtccaagctgcacctggggtcctttgagctgaggc  c.3057+2760

         .         .         .         .         .         .  g.132746
tggatgcagggagcagggtcccaaggctgcacagggcagtggggcactgggcctggccca  c.3057+2820

         .         .         .         .         .         .  g.132806
ggaaaccattcttccctcctaggcctctgggactgtgattaaagggctgccgtgaagttc  c.3057+2880

         .         .         .         .         .         .  g.132866
tctgaaaacccttctgtttcccattctcttggctatggtgggctgcaaattttccacact  c.3057+2940

         .         .         .         .         .         .  g.132926
tttacactcagcttcccttttaaatataaggtccagtttcaggtcatttctttgctcaca  c.3057+3000

         .         .         .         .         .         .  g.132986
catatgaacataggttgttagaagcagccaggttacatcttgaatgctttgctgcttaga  c.3057+3060

         .         .         .         .         .         .  g.133046
tatttcttccagcagataccctaaatcatcactctcaaattaaaaattccacagatctct  c.3057+3120

         .         .         .         .         .         .  g.133106
agagtaggggcacaatgccaccagtctgtttgctaaagcatggcaaaagtgacctttact  c.3057+3180

         .         .         .         .         .         .  g.133166
gcagttcccaatgagttcctcatctccatctgagacctcctcagcctagaattcattgtc  c.3057+3240

         .         .         .         .         .         .  g.133226
catatcacaatcagcattttggtcacaacaatgtaacaagtctctaggaagttccaaact  c.3057+3300

         .         .         .         .         .         .  g.133286
ttccctcatctttgtgtcttcttctgagccctccacactcttccaatctcctttggttac  c.3057+3360

         .         .         .         .         .         .  g.133346
cgaattccaaggctgctttcacattttcaagtattgttgtagaaatgtccactcctcagt  c.3057+3420

         .         .         .         .         .         .  g.133406
accaattttctgtattagtctgttctcacattgctataaagaaatacctgagactagcta  c.3057+3480

         .         .         .         .         .         .  g.133466
atttgtaaggaaaggaggtttaattggctcatgattctgcaggctgtacaggaagcatga  c.3057+3540

         .         .         .         .         .         .  g.133526
tgcatctgctcagcttctgtggaaacctcaggaaacttacaattatggcagaaggcagag  c.3057+3600

         .         .         .         .         .         .  g.133586
ggaaaagaggcacatcttacttggctggagcaaaaggaagagagaatggaggaggtgcta  c.3057+3660

         .         .         .         .         .         .  g.133646
cacagttttaaacaaccagatctcactacaactcactcactatcataagatcaacaccaa  c.3057+3720

         .         .         .         .         .         .  g.133706
agggatggcactaaaccattcatgaaggatccacccccatgatccagtcaccttccagca  c.3057+3780

         .         .         .         .         .         .  g.133766
ggcctcacctccaacactggggattacaattcaacatgacaaattcagtctttaattgaa  c.3057+3840

         .         .         .         .         .         .  g.133826
tttaacacccattcaagataaaactccgtagcaaattaataacaggaggaaacctccaca  c.3057+3900

         .         .         .         .         .         .  g.133886
gagtacttagccaaagcccacagcaagtgttacactggaggtgattagcgtggaggcgga  c.3057+3960

         .         .         .         .         .         .  g.133946
tcactgccctaatagagcctgcagagggaagagcaggtccaaggtcatttagtgagttag  c.3057+4020

         .         .         .         .         .         .  g.134006
gggcagagtgagacaccaggaacatttagcctccagtgcatgattcatctgctcatccta  c.3057+4080

      g.134010
agtg  c.3057+4084

--------------------- middle of intron ---------------------
                                           g.134011           g.134014
                                           c.3058-4084  ccca  c.3058-4081

.         .         .         .         .         .           g.134074
agaaacaccctcagtacagccctaaaacacatagttgtgctgtttacttgagaccacact  c.3058-4021

.         .         .         .         .         .           g.134134
gatttctattagtataataattggagagtacaacacttacattttcgattttatcctaaa  c.3058-3961

.         .         .         .         .         .           g.134194
actcttttgagtaactcctacctctagtttgtttagaacagagagttaatgtgtcctgag  c.3058-3901

.         .         .         .         .         .           g.134254
tggggaacagctgataaatcagatgatgccgtattcttaaatgagtgttaaggcaatgca  c.3058-3841

.         .         .         .         .         .           g.134314
tatgatacactcttatttgagtttgcatttgaaatgaagacaagcctgttgttttgttcc  c.3058-3781

.         .         .         .         .         .           g.134374
agatattagacttgcattctgcaatttgctcattctgtgtaaaccactttcctattggga  c.3058-3721

.         .         .         .         .         .           g.134434
atgggcttttaggctgttaaacattcaggagaattaaaaaagcatgaaatagaatgcttt  c.3058-3661

.         .         .         .         .         .           g.134494
ggaagaaattactcctaagaaaactatatcaagtgcacctcatctgatgaaagatttaga  c.3058-3601

.         .         .         .         .         .           g.134554
ctcattttgcaaaattggaacatatgcaaggctcagttggatcagaaggccaagtgacaa  c.3058-3541

.         .         .         .         .         .           g.134614
tgataggcaaatttaaatggggtggacttactcctaacagataatgtgaccccaaacaaa  c.3058-3481

.         .         .         .         .         .           g.134674
tggtacccactgtatttgcatttcagtttaaattgctgtgtgtttactttcccaagcctc  c.3058-3421

.         .         .         .         .         .           g.134734
acctggcatcttcctcttcttcttctttgtttattgttttgagacagtcactgtcaccca  c.3058-3361

.         .         .         .         .         .           g.134794
ggctggtgtgcagtggtgtgatcttagctgactgcaacctccacctcctgggttcaattg  c.3058-3301

.         .         .         .         .         .           g.134854
attgtcctcccccagcctcccgagtagctgggactataggcatgcactatcatgcccagc  c.3058-3241

.         .         .         .         .         .           g.134914
taattttgtatttttagtagagacaaggcttcaccatgttggccaggctggtctcgaact  c.3058-3181

.         .         .         .         .         .           g.134974
cctgacctcaagtgatcctcccaccttggcctcccaaagtgctgggattacaggtgtgag  c.3058-3121

.         .         .         .         .         .           g.135034
ctaccacgcccagcctcggcatcttctgatcttccctctgcctttctccctatggaccac  c.3058-3061

.         .         .         .         .         .           g.135094
tggccaccatctgttgattctacctgagctttctgctttccacctttcgctgcccagctt  c.3058-3001

.         .         .         .         .         .           g.135154
cactagtctgatgtatctagaccggaagaacagaaataaccttgatattaaccagcatca  c.3058-2941

.         .         .         .         .         .           g.135214
atggagctctcattatgtccaaagcagtgggctaagtgtttaaacctcatgtccatccca  c.3058-2881

.         .         .         .         .         .           g.135274
tgacattttcatacccattctacagatgaaagagctgaggcttaggaaggttaaatcatt  c.3058-2821

.         .         .         .         .         .           g.135334
tcaccaaggtcccacagctgaaaagcagactttaaacctgcctccaaagcccatgttcct  c.3058-2761

.         .         .         .         .         .           g.135394
gtcctaaactcaatttctgcctacctccctttctccctactctagttacccccctgcacg  c.3058-2701

.         .         .         .         .         .           g.135454
gtggccaaggggatgtttctgaaaaataaaagtgatgattcacagccccatccccagctc  c.3058-2641

.         .         .         .         .         .           g.135514
tacatttaaaaatcccacctttcaccactccctctctcagatcctgcattttagcccctg  c.3058-2581

.         .         .         .         .         .           g.135574
gaccttcttgctgccccctgagcattggagacacattcaggcatgggtccctttgaagga  c.3058-2521

.         .         .         .         .         .           g.135634
tctctgcctagaatgcttctgctctacctccttgcaaactcctatctatattctaagaca  c.3058-2461

.         .         .         .         .         .           g.135694
aacccaaatgttacttcctctgtgaagccatccatgattccctctggcagaggtggtctc  c.3058-2401

.         .         .         .         .         .           g.135754
ttccagctcccgtaaccctccatcccgaagcagatgatggcatttcccatctctgcaact  c.3058-2341

.         .         .         .         .         .           g.135814
gttgacatgagtctctccctcactagacagtgagttttcatgtctcattcacccctgaat  c.3058-2281

.         .         .         .         .         .           g.135874
cccccaatctattatctctctctctctccccgtttctgtgtgtgtctttcttcccctcct  c.3058-2221

.         .         .         .         .         .           g.135934
tcccttttccctccctccatccacacttccatccatccatcatcaacatctatgtatgta  c.3058-2161

.         .         .         .         .         .           g.135994
ttcattcattcagcagatacctgtggagtgattactaggggcgttagagctgagtgatgg  c.3058-2101

.         .         .         .         .         .           g.136054
gacccagagtcagagacacctgaaatcacccctgactctgcctcttgcccagctctgtga  c.3058-2041

.         .         .         .         .         .           g.136114
tttcaggagatttcgttatactctcttgcctcagttaccttatacataaaattagatgat  c.3058-1981

.         .         .         .         .         .           g.136174
gaaaaattcctatcttgtgttattttgtgaagattaaaccaactaattcatgtaactttt  c.3058-1921

.         .         .         .         .         .           g.136234
ataatctgctgatacaatctggcaccatattggcattcagtaaatgccagctgctgtcat  c.3058-1861

.         .         .         .         .         .           g.136294
ccccatcatcatcatcattgttgttattgttgctgtttcttctttgatgagctatgcact  c.3058-1801

.         .         .         .         .         .           g.136354
gtgctgactgctgggagaaaggagaacatgtcaacgatgctcctgagtccctgacctcag  c.3058-1741

.         .         .         .         .         .           g.136414
catttaaaatctggtgaggaaatcagctattagggaagacaattccagaaccaagttttg  c.3058-1681

.         .         .         .         .         .           g.136474
gattcaagttgttccaggtggcaggcaggtgtaagggtgcaggggtttggggacaccatc  c.3058-1621

.         .         .         .         .         .           g.136534
agcagattataaacgtgggacacatttccacctctattccattcctaaccagggctctcc  c.3058-1561

.         .         .         .         .         .           g.136594
tggtgcttgaaaagctctgtgtgttccaccgttcctctgatgacacagacaggctcaggt  c.3058-1501

.         .         .         .         .         .           g.136654
gtgaccctcccttcttgaggtgggctggggctggcatctgggtagacgtggggtctctgt  c.3058-1441

.         .         .         .         .         .           g.136714
ctccagctcctggccatgctgacagcatgacagcatacactgctggaactccactgggct  c.3058-1381

.         .         .         .         .         .           g.136774
gtgtttccttgtgggatgctgcagcgagagggatggtcatagttccacatctcagcatgc  c.3058-1321

.         .         .         .         .         .           g.136834
taggagccctgctcaggagttctcgaaggcccagcacccaaatgcttgggggggatagaa  c.3058-1261

.         .         .         .         .         .           g.136894
ggttctccgtgcgatggtgtccatgctatagagagatgcagtctatctctggcggatttt  c.3058-1201

.         .         .         .         .         .           g.136954
cttctgtcatggttcttgaatagtgtttcagagtctttagggggctttgagacccttttg  c.3058-1141

.         .         .         .         .         .           g.137014
agtgtttgatgcaagctttggcctttctgcagaaaattagaccattttgtacctatttag  c.3058-1081

.         .         .         .         .         .           g.137074
gaggatcaaggaccaccctctcatggtgaagtccaaccaaggcctcttaggatttaacac  c.3058-1021

.         .         .         .         .         .           g.137134
cctgtccaccttccagtcctaattatagtactgaccaatctggtaaatactgggttaaat  c.3058-961

.         .         .         .         .         .           g.137194
gtgcctgcattctccaaggcctggggccctcctgcctccgcccacaacccacctaagcag  c.3058-901

.         .         .         .         .         .           g.137254
gctgtggacagtttcttgtgtgagattatctaatcctggtggcctaagaatgcagattac  c.3058-841

.         .         .         .         .         .           g.137314
ttctgtttggccaaggagagacaatgtagcttagtggttaagactgcaatttcagagcca  c.3058-781

.         .         .         .         .         .           g.137374
gctagcctggcttgaaattcaggatctgccactcaatagttacatcatctgacaaattaa  c.3058-721

.         .         .         .         .         .           g.137434
tttaactctgtctgcctcagttcctttacctataaagcaagagaacttagagtatgtatt  c.3058-661

.         .         .         .         .         .           g.137494
ctgaaggattgttgtaagtgttcagtgagattcacgtatggaaagtacacagagcagtgc  c.3058-601

.         .         .         .         .         .           g.137554
tcggcaccctgatggtactggtggtgttagccatagttgctgtgttccagcctggctttc  c.3058-541

.         .         .         .         .         .           g.137614
gtccatgccgggtgcatgcagataccccaccatatgcagtgacaggtgccagccaccagg  c.3058-481

.         .         .         .         .         .           g.137674
cactttgcaggcagggagaaggagacacagccctgccctcaaagagctcacactgtagca  c.3058-421

.         .         .         .         .         .           g.137734
gaaaggcacaggacagtgatttcaggtgacaggaaacagagtgcatgcaaggggtagtga  c.3058-361

.         .         .         .         .         .           g.137794
gtgggcacatgaggagagggcatctgtgtctcccaaggaactcagggatcctttcgctga  c.3058-301

.         .         .         .         .         .           g.137854
ggagcccttcaccaaggagtttcttcttaagcggaggggtgaaagaagactggggattgg  c.3058-241

.         .         .         .         .         .           g.137914
tcaggcagacagagaaaggcactgcaggtggagggaacggcctatgtggaggcatggagg  c.3058-181

.         .         .         .         .         .           g.137974
tgacacaggggtgagagatcgtggtgcactcacattgcaccatgtggcacagctggatgg  c.3058-121

.         .         .         .         .         .           g.138034
ggaaccaggcaagacagagtcatgccagacttgtagcaagacacccaggaggtcagattt  c.3058-61

.         .         .         .         .         .           g.138094
tgtcctccaccccacccgccttgtgcagtggtgcttaccctctgccccttccttgtgtag  c.3058-1


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