Ellis van Creveld syndrome (EVC) - 7693 nt intron 01 reference sequence

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.5418
gtgggtcggccgagcagacagcggcggggcggggagcgcggggcgcgtggcttctgggtc  c.174+60

         .         .         .         .         .         .  g.5478
ctgcgggcccggagccccggctctgcgactccttgagcctggttgggaacttcgcacgca  c.174+120

         .         .         .         .         .         .  g.5538
accgcttaggcgtcgggttccccttctgctccaggagggaggtggcggcgtgactaaagg  c.174+180

         .         .         .         .         .         .  g.5598
gcattggcctggggtcccctgcggtgcctgttacatcccactccgttgggtgatccttga  c.174+240

         .         .         .         .         .         .  g.5658
cagcagcccaactgcgccacgcctcggtctcctcatctgcagcaccaagggtttggacag  c.174+300

         .         .         .         .         .         .  g.5718
gacgctggccctgctcgccatggtggacagaaggacggctggggctcccacgcctgaatg  c.174+360

         .         .         .         .         .         .  g.5778
cctattcctgcttctgcctcttccatccttgcggtgtgggttacgtcgcctggcctgagt  c.174+420

         .         .         .         .         .         .  g.5838
cccagctgccacattggcattcattttttcattcaccccacagtaaaagttttcaggcac  c.174+480

         .         .         .         .         .         .  g.5898
cttctacagccagtcactggcctagggacgacattcatgagcgggagagaccctgccttg  c.174+540

         .         .         .         .         .         .  g.5958
aggctgtgaacctcaaggagaaggacgaattgcaagtttgcaagtaaactatcggttatg  c.174+600

         .         .         .         .         .         .  g.6018
acaccgcatggggagtctgcgatgggacgctggcaatgctagcgtttattaagtgctgtg  c.174+660

         .         .         .         .         .         .  g.6078
taccaggcactgaactagaccctctccctaaatgatctcaatgaatctccacaacagttt  c.174+720

         .         .         .         .         .         .  g.6138
gtctctgctttgcagatgaggaaactgaggcacagagaggttaagcaacttactaaagtg  c.174+780

         .         .         .         .         .         .  g.6198
acagaagtgtctaaccccaaagccactgtgttcttcatggatgagggtcggggtggctgc  c.174+840

         .         .         .         .         .         .  g.6258
ctgaaggagaccagtggatgcttcctatgcaagtggccctcatggaattggctgtgcatg  c.174+900

         .         .         .         .         .         .  g.6318
gcaacacctggcatatagcaggcattccatgaatagtggtatggccactattttaggtcc  c.174+960

         .         .         .         .         .         .  g.6378
ttgcaacttctgcctctttggggtgggaggagagtaaagtctgcgcgatcagaaacaaga  c.174+1020

         .         .         .         .         .         .  g.6438
tggcgtggtcttgctacccccatttctggcccgtgggaagatgagacagatcttgtgcgg  c.174+1080

         .         .         .         .         .         .  g.6498
tttccatgtaggcacaggctctttcagaatataggggaatttggtgactcatggggagca  c.174+1140

         .         .         .         .         .         .  g.6558
ttacaccgcaaagagctgatgagggctgaaactgagataatgcaagatgctcgtaggtga  c.174+1200

         .         .         .         .         .         .  g.6618
gttgggggttgtcagatcctgctggtgattaagagacactaagagatgctggcttgttgc  c.174+1260

         .         .         .         .         .         .  g.6678
atggagagagaaagggaagtaacacacagagacttggctgggtgtcctgtgcaatgttta  c.174+1320

         .         .         .         .         .         .  g.6738
tagacatctggttctttatcctccagcccatgaggtggaggaactgccattatccccact  c.174+1380

         .         .         .         .         .         .  g.6798
ttacagtgaggcaggggatgctctgcaagggtgtttgtccagggtgccacgatgagtaaa  c.174+1440

         .         .         .         .         .         .  g.6858
cagtgggactgaatttcaaccctagttggtttgaaccccaaagctagagccttaagtatc  c.174+1500

         .         .         .         .         .         .  g.6918
tgctacctggtgaggtggtggttagtatcccatttgctagctgagtcagctgaggcttac  c.174+1560

         .         .         .         .         .         .  g.6978
cgggattaaccaagccatctgggtttgcacagctagtcagttgagggtgatggtggctca  c.174+1620

         .         .         .         .         .         .  g.7038
gaccagggtggcagccatggaggggtctgtggctcaaagtaggactaataggattttgtt  c.174+1680

         .         .         .         .         .         .  g.7098
acagtttgatgtgatccttgcgacaaccttctttctaatgagattcttttcctcctgtct  c.174+1740

         .         .         .         .         .         .  g.7158
cctccctctagtttttatttataaaatgtatgtcagacaatatgattctcctgattaaac  c.174+1800

         .         .         .         .         .         .  g.7218
acctccagtgactcctggctgcctgcaaaagataatgcccaggctgggcactgtggctca  c.174+1860

         .         .         .         .         .         .  g.7278
tgcctgtcaccccagcactttgggaggccaaggcgagctgttcaactgaggtcaggagtt  c.174+1920

         .         .         .         .         .         .  g.7338
cgagaccagcctggccaatatggtgaaaccctgcctctactaaaaatacaaaaattagct  c.174+1980

         .         .         .         .         .         .  g.7398
ggcatagtggcaggagcctgtaatcccagctactcaggaggctgaggcaggagaatcgct  c.174+2040

         .         .         .         .         .         .  g.7458
ggaacctgggaggcggaggttgcagtgagccaagatcgcaccattgcactccagcctggg  c.174+2100

         .         .         .         .         .         .  g.7518
cgatagagcaaggctccgtctcaaaaaaaaaaaaaaaaaaaaaattagagaccagcctga  c.174+2160

         .         .         .         .         .         .  g.7578
ccaacatagagaaaccctatctctactaaaaatacaaaattagccaggtgtggtggtgca  c.174+2220

         .         .         .         .         .         .  g.7638
tgcctgtaatcccagctactggggaggctaaggcaagagaatcgcttgaacccaggaggt  c.174+2280

         .         .         .         .         .         .  g.7698
ggaggttgcagtgagccaagatcatgccattgcactccagcctgggcaacaagaatgaaa  c.174+2340

         .         .         .         .         .         .  g.7758
ctccatctaaaaaataaataaataaataaagataatgcccagttttctagcatggtgcat  c.174+2400

         .         .         .         .         .         .  g.7818
acagtggcttaccttcccctgagcacctaccctgatgcacaggtgcccagccacttgcct  c.174+2460

         .         .         .         .         .         .  g.7878
catcctgctctccagccactcaagacacctcgctgttccccgtacacctctgcacttctg  c.174+2520

         .         .         .         .         .         .  g.7938
cacatctgttctctccgcctgcgcggtcctttcttagactctatcctgctcagccctcag  c.174+2580

         .         .         .         .         .         .  g.7998
gacccagagagatcaccttcttaactagggaagccttaaccttccacgctagatcaggta  c.174+2640

         .         .         .         .         .         .  g.8058
cttccctgctttgtaggcactgtttgttctcctcctctgttccaagtcacaattttatct  c.174+2700

         .         .         .         .         .         .  g.8118
tgcattgctttccttttgctgtttttgttttattttgttattttaacttatttcatcatt  c.174+2760

         .         .         .         .         .         .  g.8178
aaacctgttttatttacatcaaagttgttcatgcacataatttaaagtattagttcaaaa  c.174+2820

         .         .         .         .         .         .  g.8238
ggagcaatagccccacccattttctacttctcaacagtggccttgttaactctttcagct  c.174+2880

         .         .         .         .         .         .  g.8298
gattattttgggaatttacttcccatttctaaataatgtgcctatattgctgctgcttgc  c.174+2940

         .         .         .         .         .         .  g.8358
attttttttttttttttttggctgcgtgcaatagccgttgaccctccactgtggaaagga  c.174+3000

         .         .         .         .         .         .  g.8418
agaggacttagctctgttgcctcccttcctccataaaatgtccactcttcccaacaccac  c.174+3060

         .         .         .         .         .         .  g.8478
caccacactctcaatacggaggttataggggaatttggttaaatttgtattcagtgtttc  c.174+3120

         .         .         .         .         .         .  g.8538
cattattacaattctacaaacattatctactgcaagttaaggatcagttgtggtcatgaa  c.174+3180

         .         .         .         .         .         .  g.8598
taccttcttttcttgcacaacattttgtttttcctgaaattaatagctattctctttttt  c.174+3240

         .         .         .         .         .         .  g.8658
tgttttttgtttgttttttgttttgtttgagatagggtctcacttgattgcccaggctgg  c.174+3300

         .         .         .         .         .         .  g.8718
agttcagtggcatgatcacagttcacagtagctttgacctcttgggctcaggtgatcctc  c.174+3360

         .         .         .         .         .         .  g.8778
ccgcctcagcctcccaagtagctgggactacaggcttgcaccaccatgcctggctaattt  c.174+3420

         .         .         .         .         .         .  g.8838
tttttttttttctattttctgtagagttagagttttgccatgttgcccaggctggtctca  c.174+3480

         .         .         .         .         .         .  g.8898
aactcctgggctcaagcagtcttcctgctttcacctcccaaagtgccaagatcacaggtg  c.174+3540

         .         .         .         .         .         .  g.8958
tgagccaccacatctggccttggttttttcatttgcttagattctgtgtacttatcattc  c.174+3600

         .         .         .         .         .         .  g.9018
atttaactctcccccacatatgtgcgtttgtgttcaagacatttgaatgcattagatatt  c.174+3660

         .         .         .         .         .         .  g.9078
tgatccattttatcttcttgagaaaaatatctctcccagaaacattctgacaagctctag  c.174+3720

         .         .         .         .         .         .  g.9138
tttgagctggttattctctagacagctctctaaagtgtggaccagaccagcagcatcaat  c.174+3780

         .         .         .         .         .         .  g.9198
atcttggggagcttgatagaaatgcatattcttgggctctaccccagactcactgaagga  c.174+3840

         g.9205
gaatctc  c.174+3847

--------------------- middle of intron ---------------------
                                          g.9206              g.9211
                                          c.175-3846  taggga  c.175-3841

.         .         .         .         .         .           g.9271
tgagtccagcaagctgtgtttaataagccctcctggtgatttacatgttcttaaagtttg  c.175-3781

.         .         .         .         .         .           g.9331
agaagcagctactcatcatgctgggagtttctcacgtctcttctgggttgaatcctgttt  c.175-3721

.         .         .         .         .         .           g.9391
cagggattccctggcactccccttttgttaggtaatttcattgcatgcctggagcacatc  c.175-3661

.         .         .         .         .         .           g.9451
cttcagtagctttttcaaaaagggatggatgcaactcttttgagaacttctatgtctgaa  c.175-3601

.         .         .         .         .         .           g.9511
aatatattcttctatctttatacttaatttggtaagaataattagattgggaataatttt  c.175-3541

.         .         .         .         .         .           g.9571
cctccagaatttcgaaggcatttttccattgtctttttttttttttttttttttgagata  c.175-3481

.         .         .         .         .         .           g.9631
gagtcttgctctgtcacccaggctggagtgcagtagtgcaatctcggctcactgcaacct  c.175-3421

.         .         .         .         .         .           g.9691
ccacttcctgggttcaagcaattcttctgcctcagcctcctgagtagctgggactacagg  c.175-3361

.         .         .         .         .         .           g.9751
catgcgccaccatgcccagctaatttttgtatttttagtagagatggggtttcaccatgt  c.175-3301

.         .         .         .         .         .           g.9811
tggccagtctggtctcgaactcctgagctcgtgatccacctgcctcggcctcccagagtg  c.175-3241

.         .         .         .         .         .           g.9871
ctgggattacaggcgtgagctactgtacccggcctccattgtcttctagctgttgtagaa  c.175-3181

.         .         .         .         .         .           g.9931
ccaaactgggttccactcacctggcacagtaagaccagatagcgacactgaggttttata  c.175-3121

.         .         .         .         .         .           g.9991
gtggtaaaaagggaggtgtttattcacagtgcaccaagccaggaggactaggcagctcat  c.175-3061

.         .         .         .         .         .           g.10051
gctcaaatcctgactgccctgatgacttccaggtgaggtttttaaaggtagaggtaaatt  c.175-3001

.         .         .         .         .         .           g.10111
tcaggaaagcagaagttacaggcaaaattgtaaatcaatacatgaaggtgacaactggtt  c.175-2941

.         .         .         .         .         .           g.10171
ttggcctaaaagggccagacatcttgaagtggaggcttgcaggtcagaggtagattcaaa  c.175-2881

.         .         .         .         .         .           g.10231
gattttctgatttgcaattttgtgaaggaagagaagctttgttttaaaatgtaggttcgg  c.175-2821

.         .         .         .         .         .           g.10291
cagaaaagaaccttagctcaggctcctggtcatgacttcctctgggctccccaggaagag  c.175-2761

.         .         .         .         .         .           g.10351
ctttagaacaaagaatggtgctcagagttcagatctcagataaggggcagctgaggacct  c.175-2701

.         .         .         .         .         .           g.10411
cagccatggatcctcagagtggatccattggatgggggtccaggtttctgaaaaacaact  c.175-2641

.         .         .         .         .         .           g.10471
cagggacatatgttaagatgttatctttagtttctgcagggaaaccaaacatctcctgac  c.175-2581

.         .         .         .         .         .           g.10531
tctaacttccttggctattgttttaggcgactattaccttcttgcttatcaagttgttga  c.175-2521

.         .         .         .         .         .           g.10591
taatttcccttgaagaaagtcaggattttcctttatttccaggcttagggcaagggattt  c.175-2461

.         .         .         .         .         .           g.10651
gcaggcccttaaaaaggggggactctgcttcatctcataatttccatggttgctgttgag  c.175-2401

.         .         .         .         .         .           g.10711
aaaactgattctattctgatccttgataccttacacgaaacctcttttccttttgttcct  c.175-2341

.         .         .         .         .         .           g.10771
ctgtagaatcttaaagaacctttacctttgctcctagtaaatgaaattgcaccacgatgg  c.175-2281

.         .         .         .         .         .           g.10831
tgttggtgaaagtcatttgtcatccacggtgccaggcatttggaacgtccttttgatcga  c.175-2221

.         .         .         .         .         .           g.10891
gaatcattttcttgatttctttgatgattcttttccttttatacgttttcttcttccaag  c.175-2161

.         .         .         .         .         .           g.10951
aactcctatcacttttttaggttgaattgggcttccaatcttagtctttctctctcactt  c.175-2101

.         .         .         .         .         .           g.11011
cgattctctttgtcttttttacattatctttggagagatgtttctcaactttatacttgt  c.175-2041

.         .         .         .         .         .           g.11071
attgagtttttcatattttcaattttgaagagtcatttttttgttctgagaatgttctat  c.175-1981

.         .         .         .         .         .           g.11131
cctgtccttattttatgaatggaataccttctctgatctctctgataatattttagttgt  c.175-1921

.         .         .         .         .         .           g.11191
ttatttgtttaaagttttttttccctgtgtagtgcgttccctgcttgctttttccttttg  c.175-1861

.         .         .         .         .         .           g.11251
tttgttttggattttatctttcatattagagtctgtcctcaaatggctagtgaccctcta  c.175-1801

.         .         .         .         .         .           g.11311
gacattttcaagtgatgctgatgctccctctgtgggatatatatattttttcctcaatgt  c.175-1741

.         .         .         .         .         .           g.11371
ctttactgtaggactatctgactgggttcttctttgcaggacccttgtactggtctgcta  c.175-1681

.         .         .         .         .         .           g.11431
tggttggtaaacaaccccccaaatctctggcttcatcatccaccccaagacccacgacag  c.175-1621

.         .         .         .         .         .           g.11491
actgctgcatctacacaggtttctctctatgcccagcatgggcctgcctccaaggccttt  c.175-1561

.         .         .         .         .         .           g.11551
gcacttgctattctgtctctagaatgctcctccctgagatatctcaatggctcatggcct  c.175-1501

.         .         .         .         .         .           g.11611
cacttcttttaagttccttctcaaatgccgctttgtccaagagactttgtctcccatcat  c.175-1441

.         .         .         .         .         .           g.11671
ccttcattcccccaccctccactgttactctaggacatgattgtccctgaattgctatgt  c.175-1381

.         .         .         .         .         .           g.11731
attttttcatttgtttgcctctttcttctctcactgcaatgtcaatgccacaaaagcaga  c.175-1321

.         .         .         .         .         .           g.11791
ggctgtgtattttgttcgttactctattcccagtacctagaacaaggcctgacacaaagc  c.175-1261

.         .         .         .         .         .           g.11851
agatgctcgataatagtagctgattaactcagtgacaaactggtgatgtttctttagtgc  c.175-1201

.         .         .         .         .         .           g.11911
aaagattatattcatgagcaggtagtgattaaaggggaagttgagaagtgtctgggataa  c.175-1141

.         .         .         .         .         .           g.11971
cagagttttaaatatagtctactctccttattcatggtagttatgttctgtaaactcact  c.175-1081

.         .         .         .         .         .           g.12031
gagaacacagcattagcgaacactgaaccgttgttcctggggggaaaacagggttaggtt  c.175-1021

.         .         .         .         .         .           g.12091
cctacaagcctctggtcacaacatttccattaaccagtcaatacatagcatagttttatg  c.175-961

.         .         .         .         .         .           g.12151
tatgtttctgtttaaagatatcttatttaatagatatttttaatttattaacattggact  c.175-901

.         .         .         .         .         .           g.12211
cacagacatcagctctgtaactcacacctgaatgaagcttctgtaacacacccatttctc  c.175-841

.         .         .         .         .         .           g.12271
cagagggcatgtcatagttttcttgtgtttcgggagactagacagcacttctgcactgtg  c.175-781

.         .         .         .         .         .           g.12331
tttggtggttattttaaacagtaaagtcaccgagaaaaagcacagaaatgcaaaaactgt  c.175-721

.         .         .         .         .         .           g.12391
gctactagagtatgaaaaggatgtttgtttacagcatgagagcagagacaagaaggcaga  c.175-661

.         .         .         .         .         .           g.12451
gtgctactttgttccatctcaactgagcacgtgcatgctgggcaactcagattgttcatg  c.175-601

.         .         .         .         .         .           g.12511
ctctgcatgtatttgtgaataactgtaaaagcgccatgagcattggtttgggggttctaa  c.175-541

.         .         .         .         .         .           g.12571
ataaatattagcaagtacaggaattggcaaatacagaatccataaataatgagcattcat  c.175-481

.         .         .         .         .         .           g.12631
tgtagttcagaatagaaactactctataacttaaggtcacctaacatattgtcttaaaaa  c.175-421

.         .         .         .         .         .           g.12691
ccattcaatagaatgatcaagatcaacaggaaaattatatgcatgtgccatttctcatgc  c.175-361

.         .         .         .         .         .           g.12751
ttagttgttaaatccaaagagctcccagtccaatggggtccccaacctagaagaaaaatg  c.175-301

.         .         .         .         .         .           g.12811
gaacgagctttgctctgcctcttgcctcaagtcctgagggtgcactgaaatggggcatcc  c.175-241

.         .         .         .         .         .           g.12871
tggaggccttaggggaaccgctcaggaaggtgacctgtgcagtcttgaaggacatgtagc  c.175-181

.         .         .         .         .         .           g.12931
ggaccccacgtggggtgggaggcgtcacacacagaagaccaagcttgagaagcacagagg  c.175-121

.         .         .         .         .         .           g.12991
cgagcagaagtggctgctggactgggggagttgactggcaaaagtcacggtggggaccag  c.175-61

.         .         .         .         .         .           g.13051
gccgactgacctcaatgttgtgtttctatccacccccaactcctgaccttcgggttttag  c.175-1


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