Ellis van Creveld syndrome (EVC) - 8280 nt intron 05 reference sequence

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.27299
gtaggtggagatgttcgcattccctccttttcatggggacaggagctgggagacaaggac  c.702+60

         .         .         .         .         .         .  g.27359
tctgtgtgcagtgagtcccagagacccttgagaggcagacatcagtggaaacagagccgc  c.702+120

         .         .         .         .         .         .  g.27419
tgtgaggtgggggaaagcggcgctgtcaggcatgcagccacaaaatggaaaagcacttca  c.702+180

         .         .         .         .         .         .  g.27479
cgcctgttggtggggcatggccttgacttcaaccagagctgtaggggcctcagcagaaag  c.702+240

         .         .         .         .         .         .  g.27539
atgagtgcctcctcccgggctacacctcctgctggagatagagataaaagatatttaaaa  c.702+300

         .         .         .         .         .         .  g.27599
gagaacaatatgtttaaaggaatgataataatgataagaatatttatgagcatgaatttt  c.702+360

         .         .         .         .         .         .  g.27659
cttgagtcttgctatgtacgaggtcccaggagtattacacttaaacctcagcacaaccca  c.702+420

         .         .         .         .         .         .  g.27719
gaggggcgggtgtcattatcatgtccactctgcaggtgagaaaactgaggcacagggcag  c.702+480

         .         .         .         .         .         .  g.27779
aggatttacccaaagttataaagctgcaggagtggcactgagatgagaagttcagtacct  c.702+540

         .         .         .         .         .         .  g.27839
tttcatggggccacgtgttctcttgactgaatgaacaagaactcagaactgtggatgtgg  c.702+600

         .         .         .         .         .         .  g.27899
ggaaaacaacattagtctctgccagatgcacctggcctctgattgaatcagccacggacc  c.702+660

         .         .         .         .         .         .  g.27959
tgagctatgggaagccagagagaggagtcccactttagccgcagaaccccggtgggttta  c.702+720

         .         .         .         .         .         .  g.28019
ttcaggcatcaagatgacgggggttaaaaaaaagtgttatttctccataaggcacattct  c.702+780

         .         .         .         .         .         .  g.28079
ctgaattactgaatgaggaatgagaccctacagagagaaggcagatgagagaaagaggag  c.702+840

         .         .         .         .         .         .  g.28139
agctagaaacaggtggacagacacacagatatgtctacagggcactcttacaaactggag  c.702+900

         .         .         .         .         .         .  g.28199
aagagcaagaacatcacgttggaggccaggcatggtggctcacgactataatatcagggt  c.702+960

         .         .         .         .         .         .  g.28259
ttgggaggctgaggtgggaggattgcttaagcccaggaatttgagaccagcctgggcaac  c.702+1020

         .         .         .         .         .         .  g.28319
atggcaaaaccctatctctaccaaaaacaaaaacaaacaaacaaacaaacacttagcctg  c.702+1080

         .         .         .         .         .         .  g.28379
gtgcagtggtgtgtgcctatagtcctaggtactcaggaggctgaggtgagaggaacactt  c.702+1140

         .         .         .         .         .         .  g.28439
gagtccaggagatggaggctgcagtgaactgtgatcacaccactgcactccgacctgggc  c.702+1200

         .         .         .         .         .         .  g.28499
aacacagcgacatcctgtctcaaaaaacaaaaaacaagaatagcacactggggatgtgcc  c.702+1260

         .         .         .         .         .         .  g.28559
tggaagaagcttgggctctgtgtgagcaggactgactggcctcataaacgggtgccaatg  c.702+1320

         .         .         .         .         .         .  g.28619
tttgaaaccgtaaatatgctagaattcaagaactagagcatggcccttcaccccctctat  c.702+1380

         .         .         .         .         .         .  g.28679
ccccagccccatggaggtccctggatgggggccaccaggcagcctgtgtccagctttcct  c.702+1440

         .         .         .         .         .         .  g.28739
cagtgagctacacctggccctggctgttttctccaaggctccatgcttcctgagaggacc  c.702+1500

         .         .         .         .         .         .  g.28799
agttgtttctgggctcagagcctgtccagttggcaagcagagtagtcctggctggcctcg  c.702+1560

         .         .         .         .         .         .  g.28859
ccccacagccagcgagtgtccacagggagcagcttacagtcctggagggagcgttcagca  c.702+1620

         .         .         .         .         .         .  g.28919
tcactcaccatccagcacaggggtgtggcctctgcacactgccaggcactgtgtcagacc  c.702+1680

         .         .         .         .         .         .  g.28979
ccaggggcagcctctgcctttgtggagcccactctctggggcagtggggagggcagtaaa  c.702+1740

         .         .         .         .         .         .  g.29039
cagatgtcacaaaataaacggtggcaggcagcatggcaaaggcctgtgacaaagcatcat  c.702+1800

         .         .         .         .         .         .  g.29099
gcgagtgtgaagggggcacctgagggaatgcagagctggggagatggtcaggcttccctg  c.702+1860

         .         .         .         .         .         .  g.29159
tggggagtctcgtgggtggaaacccagggaagttccaggagcactggattaagggacagt  c.702+1920

         .         .         .         .         .         .  g.29219
cctagaccctagtccaccctttgacaattaggagctgtgtgactttgggtaagttgcttc  c.702+1980

         .         .         .         .         .         .  g.29279
acctctctgggccactttaggaaaggcttaaataaaatatcctttcagctattgctatat  c.702+2040

         .         .         .         .         .         .  g.29339
ggagttactgggaagtcaagctgccctgctttgagagggttctgtgggtagaactctggg  c.702+2100

         .         .         .         .         .         .  g.29399
ctccatatcacagctgtgtggctggcatggtcacagcagtgattattctgcacgtacact  c.702+2160

         .         .         .         .         .         .  g.29459
ctggtaggctcagtgctttaaatgttttacttttttgaagctttacatgccacttcacta  c.702+2220

         .         .         .         .         .         .  g.29519
acgaggaacctgaggttcagagaggttaagtcacttgcccaaagtcacacagctggtgat  c.702+2280

         .         .         .         .         .         .  g.29579
ggcagaatcagacctggacaaggtctgtgtgagtgaaaggcccctgcatgcccaggtgtg  c.702+2340

         .         .         .         .         .         .  g.29639
gccctgcaccctgcatgttaaaggtgctcaggagaaatgtgttgcatgtgtgattggcac  c.702+2400

         .         .         .         .         .         .  g.29699
cgccctgaaagagctgcttcccagcagggtccttcctgctctggggagcataactctatc  c.702+2460

         .         .         .         .         .         .  g.29759
gtcgtgtgctgggactgtaagaacctggtgagccgctgggagctgtgctgcctggagact  c.702+2520

         .         .         .         .         .         .  g.29819
taaatactctgtttccctggtagagatgagctggggttcagaagttattcagaccacatg  c.702+2580

         .         .         .         .         .         .  g.29879
agaccctcatgcatcccagaagcttagaactccctggctggccctgaggaggaagaaact  c.702+2640

         .         .         .         .         .         .  g.29939
ggctctgggcttgtccaagaggcaggagaagctggagtgtaacctctataaacagagtgg  c.702+2700

         .         .         .         .         .         .  g.29999
ccaggatgagaacagattgggggcatggaggaagattaaataaaggggagcaccagcact  c.702+2760

         .         .         .         .         .         .  g.30059
agggggttctcatggtgctagaatattactttgattgtggctgcacttacgtgaatctat  c.702+2820

         .         .         .         .         .         .  g.30119
acatggggtaaaattgcatagaactacacacacacacacacacacacatgcacacacata  c.702+2880

         .         .         .         .         .         .  g.30179
aatgtgcataaagatgggtgaaaactgaagaaggtctgtagacagcagtattcaaccagt  c.702+2940

         .         .         .         .         .         .  g.30239
ggcaatttcccagttttggtactgcaccatggtgacatcagaaccacccctgggggagga  c.702+3000

         .         .         .         .         .         .  g.30299
gcacacagcactttgtgcctgcacacctggcgttattgcatttcacttaattgcgcttca  c.702+3060

         .         .         .         .         .         .  g.30359
gagatgctgcatttttttttttttttttttacaaattgaagggttttggcaactctgcat  c.702+3120

         .         .         .         .         .         .  g.30419
ccagcaagtctgttggctccatttttccaacagcacatgctcacttcatgtctttgtgtg  c.702+3180

         .         .         .         .         .         .  g.30479
acattttggtaattcttgcaatatttcaaacttattcactattattgtgttatggtgatc  c.702+3240

         .         .         .         .         .         .  g.30539
tgtgatcagtgacctttgacgttatgattgtaattgtttggggacaccacatgctgtgcc  c.702+3300

         .         .         .         .         .         .  g.30599
agtatgagacaacaaacttaattaataaatgttgtgtgtgttctgactgctccaccaact  c.702+3360

         .         .         .         .         .         .  g.30659
ggccattccctctccttgggcctccctatttcttgagacacagtaatattgaaattaagc  c.702+3420

         .         .         .         .         .         .  g.30719
cagttagtaacgctgcaatggcctttaggtgtttgagtgaaagagagtcgcgtgtctctc  c.702+3480

         .         .         .         .         .         .  g.30779
acttttaagtcaaaagctagaaattatgaagcatagtgaggaaggcaggtctaaagctga  c.702+3540

         .         .         .         .         .         .  g.30839
gataggctgaaagctgggcttcttataccacacagccaagttgtgaatgcaaagaaaaag  c.702+3600

         .         .         .         .         .         .  g.30899
ttcttgaaggaaattaaaagtgctacgccagtgaacacacgaatgatcagaaagcaaaac  c.702+3660

         .         .         .         .         .         .  g.30959
aaccttattgctgatatggagaaagtctgagtggtctgcatagaagatcaaaccagacac  c.702+3720

         .         .         .         .         .         .  g.31019
aacatccccttaagccaaagcctaatccagagcaatactctaactctcttcaattctgtg  c.702+3780

         .         .         .         .         .         .  g.31079
agtgctgagagaggtgaggaagctgcagaagaaaaatttgaagctagcagagcatgaggt  c.702+3840

         .         .         .         .         .         .  g.31139
ttaaagaaagaagctgtctccagaacaaacaaaagtgcaaggtgaagcagcagcaagtgc  c.702+3900

         .         .         .         .         .         .  g.31199
tgatggagaagcttcagcaagttacccagaagatctagctaagaccattgagcaaggtgg  c.702+3960

         .         .         .         .         .         .  g.31259
ctgcactaaacaacagattttcaatgcagatgaaatagcacaatatggtcatggaagaag  c.702+4020

         .         .         .         .         .         .  g.31319
atgccatctaagacttcatagctaaagaggagaagtcaatacctggcttcaaagcttcaa  c.702+4080

         .         .         .         .         .         .  g.31379
agaacaggctgactctctcgctaggggctaatgcgggagatgactttaagttgaagccag  c.702+4140

--------------------- middle of intron ---------------------
.         .         .         .         .         .           g.31439
tgctcatgcaccactccgaaagtcctagggcccttaagggtgatgctaaatctactctgc  c.703-4081

.         .         .         .         .         .           g.31499
ctgtgctctataagtggaacaacaaagcctggatcacaacacagctgtttatagcatagt  c.703-4021

.         .         .         .         .         .           g.31559
ttaagcccactattgacacctactgcccagaaaataaacttcttttcaaaatgttactgg  c.703-3961

.         .         .         .         .         .           g.31619
tcattttcaaaacccctggtcacccgagagctctgatgaagatgtacaaggaagttaatg  c.703-3901

.         .         .         .         .         .           g.31679
tcattttcatgcctgctaacacaacattcattctgagcctattgattaaagagtaatttc  c.703-3841

.         .         .         .         .         .           g.31739
aactttcaagtcttattatttaagaaatacatttcctaaggctctaactgccatacatag  c.703-3781

.         .         .         .         .         .           g.31799
tgattcctctgaaggatttgaacaatgtaaattgaaaaccttctggaaaggattcaccat  c.703-3721

.         .         .         .         .         .           g.31859
tctagatgccattgagaatattcatgattcataggaggaggtcaaaatatcaacattaac  c.703-3661

.         .         .         .         .         .           g.31919
aagagtttggaagaggttgatttcaatcctcatgaatgactttgaggggattcagaactt  c.703-3601

.         .         .         .         .         .           g.31979
cagtggaggaagtcattggaaatgtggaaatagcaagaaaactaggattagaattggagc  c.703-3541

.         .         .         .         .         .           g.32039
ctgaagatgggactgagctgctgcaatctcatgatgaaacatgactggatgaggagctgc  c.703-3481

.         .         .         .         .         .           g.32099
ttctgatggatgagcaatgaaagtggtttctagagaaggaatctgcttctggtgaagatg  c.703-3421

.         .         .         .         .         .           g.32159
ctgtgaacattgttgaaatgacaaaaaggatttagaatactatgtaaacttatttgataa  c.703-3361

.         .         .         .         .         .           g.32219
agcagctgcagggtttgagaggattgactccaagttttaaagttctactgtgggcaaatt  c.703-3301

.         .         .         .         .         .           g.32279
gctatcgaatagcatggcacgctgcagagaaatcttttgtgaaaggaagagtcagctgat  c.703-3241

.         .         .         .         .         .           g.32339
gtggcccacttcagagtggtcttattttaagaaactgccacagccaccctaaccttcagc  c.703-3181

.         .         .         .         .         .           g.32399
aaccactaccctcataagtcagtagccatcaacattgagacaagaccctccaccagctaa  c.703-3121

.         .         .         .         .         .           g.32459
aagattacaactttttttttttttttaagacggagatctcaactcactgcaaactttgcc  c.703-3061

.         .         .         .         .         .           g.32519
tcccagattcaagtgattctcccgcctcagcctcccgagcagctgggaccacaggcgcgc  c.703-3001

.         .         .         .         .         .           g.32579
accacctcgcccagacaatttttgcatttttagtagagacggggtttcaccatgttggcc  c.703-2941

.         .         .         .         .         .           g.32639
aggatgggtctcaatctcttgaccttgtgatccacctgcctccgcctcccaaagtgctgg  c.703-2881

.         .         .         .         .         .           g.32699
gattacgggtgtgagccaccgcacccagcccaacaacttttttttaataatcatcttagg  c.703-2821

.         .         .         .         .         .           g.32759
ctcagatgatcattagcattttttaggaagaagttatttttaaaattaaggtatgtactt  c.703-2761

.         .         .         .         .         .           g.32819
ttttagacatactgctattgtacacttagactacagtatagtgtaaacatagcttttata  c.703-2701

.         .         .         .         .         .           g.32879
tgcactagaaaaccaaaaaatgtgtgcggcttgctttattgtgatattcaccttactgag  c.703-2641

.         .         .         .         .         .           g.32939
gtggcctgaaatcaaccctacaatacctccatggtatgcttgtattatttttgtaccttc  c.703-2581

.         .         .         .         .         .           g.32999
atttgaatctataactatctcaaagttggcactatggaaagggagaggatgagggctgta  c.703-2521

.         .         .         .         .         .           g.33059
aacattactgatttatttggggtcaggaagaaagtagactcgaaactaacatcttgcaaa  c.703-2461

.         .         .         .         .         .           g.33119
aataatgttattatatcttataccatatcagtcttcagtgagtagaaagccaggacacca  c.703-2401

.         .         .         .         .         .           g.33179
ctttctccttagagctcattgtcattggcaaatataatgaaggttggtgggcagaattct  c.703-2341

.         .         .         .         .         .           g.33239
gggttcaaatctcagctctgtcgcatgtggctgtgtggcaggaggcaagtggcccctgca  c.703-2281

.         .         .         .         .         .           g.33299
agttgctgggcattttctcatctgtaaaatgcggaagatggtaccaacctccccgcatgc  c.703-2221

.         .         .         .         .         .           g.33359
catggagatcaagtgatagtatgtataatacatacattaggctggcccagaagagtgatt  c.703-2161

.         .         .         .         .         .           g.33419
aacaagccttaatccattaaaagaaggatcaaaaactgtggcccttgagccaaatctggc  c.703-2101

.         .         .         .         .         .           g.33479
catgtccttcttttccatattgcctgtatgcctgtgtggcatatgccacaaccgcagaac  c.703-2041

.         .         .         .         .         .           g.33539
tgagtagttgcaaaagagatcatatggcctgcaaagccaaaaaaaatttgctgtttcacc  c.703-1981

.         .         .         .         .         .           g.33599
ctttactgaaaaagtttgctaacccctgcatttaaaaatgccttaccaggcgggatgcag  c.703-1921

.         .         .         .         .         .           g.33659
tgactcatgcctataatcccagcactttgggaggtggaggcaggcaggttgcatgagttc  c.703-1861

.         .         .         .         .         .           g.33719
aggagttcgagaccagcctgggcaacacagagaaaccccatctcaaaaaaaaaaaaaaaa  c.703-1801

.         .         .         .         .         .           g.33779
gccttaccggttcaccaaagaaaaagaaaatgccttattatatctaaatgaccatattat  c.703-1741

.         .         .         .         .         .           g.33839
atctaaatgacctttgacaaagaggcaaaagcacttcaatggaggaatgataagcttttc  c.703-1681

.         .         .         .         .         .           g.33899
aataaatggtactggagcaattggacatccataaacaataacaacgacaaaagaacctca  c.703-1621

.         .         .         .         .         .           g.33959
acctaaacttcacaccttatacaaaaattaattcaaaagggatcacatacttaaatgtaa  c.703-1561

.         .         .         .         .         .           g.34019
acagtaaactataaatcttttagaaaaaatattgccaggcatggttggctcacgcctata  c.703-1501

.         .         .         .         .         .           g.34079
atcccagcactttgggaggctgaggtgggtggatcacttgaggtcaggaattcaagacca  c.703-1441

.         .         .         .         .         .           g.34139
gcctggccaacatggtgaaacctcgtctctactaaaaatacaaaaattagccgggtgtgg  c.703-1381

.         .         .         .         .         .           g.34199
tggcacatgcttgtaatcccacctacttgggaggctgaggtgggagaatcgcttgaaccc  c.703-1321

.         .         .         .         .         .           g.34259
gggaggtgaaggttgcagtgagccaagattgcaccactgcactctagcctggacgacaga  c.703-1261

.         .         .         .         .         .           g.34319
ctgatactccatctcaaaaaaaaaaaaaaaaagaaaaagaaaaaatataagagaaattct  c.703-1201

.         .         .         .         .         .           g.34379
ccaggatttagacctaggcaaagagtttttagacttgacaccaaaagcatgacacacaga  c.703-1141

.         .         .         .         .         .           g.34439
aggaaaaattaactggaattcatcaaaattaaaaacttttgctttgcaaaagacctcttt  c.703-1081

.         .         .         .         .         .           g.34499
aagaagatgagaagacaagctacagagtgagagaaaatgtttgcaaaacagatgtccacc  c.703-1021

.         .         .         .         .         .           g.34559
aaaggactagtacctagaccagataaggaaatttccaaactcagctgaagacaggaagca  c.703-961

.         .         .         .         .         .           g.34619
atccagttagaaaatgggaaggacatgaacagatatttcaccaaaaaggatatatagatg  c.703-901

.         .         .         .         .         .           g.34679
gtaagtaaacacgtaaaaaggtgttcaatgtcattaagccagcatgaaaatccaagttga  c.703-841

.         .         .         .         .         .           g.34739
actcacaataagatatcaccacacacttgtcaaaatggctaaaataaaaaatagtgacac  c.703-781

.         .         .         .         .         .           g.34799
caccaaattctggcaaagatgtggagaaactggatcactcatacattgctgatggaaata  c.703-721

.         .         .         .         .         .           g.34859
taaaatggtacctacggccatactggaaaacgttttggcaatttcttatcaaacttaact  c.703-661

.         .         .         .         .         .           g.34919
tgcagttaccagaagacccagcaattgcatttgtgggcatttatctcagagaaatgagga  c.703-601

.         .         .         .         .         .           g.34979
cttacgttcacacaaatgttcacagcagcattgttcataatagccccaaactggaaataa  c.703-541

.         .         .         .         .         .           g.35039
tccagatgtcttacaggggtgaatagatcaacaaattgcagatacagccccctctgtact  c.703-481

.         .         .         .         .         .           g.35099
tcctgggtatccccacttatgggagggttcttcctagtttaaaggacatctccatccatt  c.703-421

.         .         .         .         .         .           g.35159
gaaacaggagactgacatggataacttttcatttccagttccatacaactatcccgctga  c.703-361

.         .         .         .         .         .           g.35219
ttctttcttcaaagaagcaaaccctcctttgctttttatattttcttcacacatggaaat  c.703-301

.         .         .         .         .         .           g.35279
gggggatgtggagggccttgcacagagtaagcactcaatatttgttgaatacatgcatga  c.703-241

.         .         .         .         .         .           g.35339
ggaagaaaggaagctttttaaggaagcttcatgaaaatgtaatgcattatgggccattgt  c.703-181

.         .         .         .         .         .           g.35399
catgatttataatcggagttcctttccttcagcaaaaaatatacgtgaagagagggtgaa  c.703-121

.         .         .         .         .         .           g.35459
agagaagaaaagaaggagagaggcagtgggggagggagggagaagagaaaacagaaagca  c.703-61

.         .         .         .         .         .           g.35519
aaagacaaaaataccattgattaaacttttcttttgttatctttcctttcttggcaatag  c.703-1


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