optic atrophy 1 (autosomal dominant) (OPA1) - 4699 nt intron 11 reference sequence

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.49982
gtaagaacataggccgtctcagtgaggttccttaggagagtaactgcttcagtgagacct  c.1149+60

         .         .         .         .         .         .  g.50042
gttcattgtgttgaaatgaggacttttaaccaaagaaagacttgatacatagtgtttgga  c.1149+120

         .         .         .         .         .         .  g.50102
atgatccctagtgtggaaatcagtagaaggcacagccaggaggccagtgtggcaggagct  c.1149+180

         .         .         .         .         .         .  g.50162
gagtgaggggagagtggtaggagaggatgacagagacccagttgggaggcctttggattt  c.1149+240

         .         .         .         .         .         .  g.50222
tattctgaataagataagagagaagttaagagaatgagaatattggaagtggagtcaatg  c.1149+300

         .         .         .         .         .         .  g.50282
aatatagataattttctagttttattgtgacaaaagagcagagaaatgaagcagtagcaa  c.1149+360

         .         .         .         .         .         .  g.50342
ttgaatattgttgaattaagggaaggtttttaacccttttcctgtttagaaaaaaagtgc  c.1149+420

         .         .         .         .         .         .  g.50402
agctcaacaccagtgctcatttaattttacgtaaacacactctctgaagctgaagcaaat  c.1149+480

         .         .         .         .         .         .  g.50462
ctgactaattttcaatgtgaaaataaaatataaaaactgttcttagagttatttctaaac  c.1149+540

         .         .         .         .         .         .  g.50522
agtactaacatcagaatcgtcccaatcatcagaatgtctgttttttaaaagtcagattta  c.1149+600

         .         .         .         .         .         .  g.50582
tcaaatcaatcttcggccaacaactttttgagaatgatgtaaacatcacacataggaatt  c.1149+660

         .         .         .         .         .         .  g.50642
ccgcattttctaggatttgacattttcagctattgaaaattactatattttgtaaatgga  c.1149+720

         .         .         .         .         .         .  g.50702
cgtaccgctactaaaaacagaatgcttgaaatagaatgtcttttgtttccaaagtcagta  c.1149+780

         .         .         .         .         .         .  g.50762
cactagagctatgtgaaaataatcataaaagtgaagatattttatggcagagttatgttg  c.1149+840

         .         .         .         .         .         .  g.50822
gggcaaatgctgcagctgcaagcggtgctggcaaatattgtcggagcaagtgggaaaagg  c.1149+900

         .         .         .         .         .         .  g.50882
attaaagatgtttatatgctgattataatgatctaataaaggggggaaatgatgcaagag  c.1149+960

         .         .         .         .         .         .  g.50942
agagggaaaattgcaagagcaaagttactgaggtgaaggagattgtgacttggtgtacta  c.1149+1020

         .         .         .         .         .         .  g.51002
gtccatatctgggagcactgacaatttctccagggtcacaggaagaaggtatggggctgc  c.1149+1080

         .         .         .         .         .         .  g.51062
agagtctttcattgaacagatatttacggaatgcttaatatgtaccagtagcattctagg  c.1149+1140

         .         .         .         .         .         .  g.51122
caatatgttggtaaacagcaacaacaaagaagaaccttgccttaatggagggtatgttct  c.1149+1200

         .         .         .         .         .         .  g.51182
agtagagggagacagataatagataataaatataatacataattgtatagtaggttagaa  c.1149+1260

         .         .         .         .         .         .  g.51242
ggcaatagtgttgtacaacaagaaaaagcagaaccaggcaaggagaatgagggtgccaga  c.1149+1320

         .         .         .         .         .         .  g.51302
gtattcatagattgcattgataaggtggcatttgaaccaagatttgcagaaagtgaggga  c.1149+1380

         .         .         .         .         .         .  g.51362
gtagtcctgaggatatcctgtgttcagcaaggagaatagctgatgcaaagcctctgaggt  c.1149+1440

         .         .         .         .         .         .  g.51422
ggttgtgtggctgtcatgttcaaggaacaacaaagaggcctgtgtggtcaggtcggggtg  c.1149+1500

         .         .         .         .         .         .  g.51482
aagagctagccatggtcggggcaaatgatgacattagaggaataatgaagagcggggagg  c.1149+1560

         .         .         .         .         .         .  g.51542
aacagatcaataaggccttataggccattgtacagacttccgttttaagtaaaatggaaa  c.1149+1620

         .         .         .         .         .         .  g.51602
gccagtgcaggatttcgagcaaagtaacaaaagtgccttttaaaaggctgctcttttgaa  c.1149+1680

         .         .         .         .         .         .  g.51662
aatagttgtagccaagatgtagaaccagggagtctaggctactggagtatccaggtgata  c.1149+1740

         .         .         .         .         .         .  g.51722
cttgggctagggaagtagcagtgaaactggtaagaaatggatagattataaatgtgtttt  c.1149+1800

         .         .         .         .         .         .  g.51782
gaaagtagaattaacaggatttcttgacaggtttgatatggagaggggagagaagaaaag  c.1149+1860

         .         .         .         .         .         .  g.51842
caatggggagagagagagagagtgtcaatcatcaatgatgcctccagggtctttagcctg  c.1149+1920

         .         .         .         .         .         .  g.51902
aacaaattgaaggatgtagtttgcatggaagtctgtcagtggatcaggtttgggggaaga  c.1149+1980

         .         .         .         .         .         .  g.51962
agatcaggagttcagttttggacttgctgagtggtgataacaagcagttgggtatacaag  c.1149+2040

         .         .         .         .         .         .  g.52022
tttagacagaggtgtgggccagagacatacatttaggagtcatgatcaactatctaaaag  c.1149+2100

         .         .         .         .         .         .  g.52082
tagtatttaaagtcatgatcttactggagaagatcttcaagggagtgagtagagatagag  c.1149+2160

         .         .         .         .         .         .  g.52142
aaaacacagaagcaagcagtatattctgggcactctgaacattaagatgttgagggaaga  c.1149+2220

         .         .         .         .         .         .  g.52202
gaaaataacaaaggaatgtgtgaaggcccaaccagtatagtaagagggaaagcagagcag  c.1149+2280

         .         .         .         .         .         .  g.52262
gacagtgtgcgcaaagtcaggtaaacaaaaagaaaacatggaggaggagggagtgctcag  c.1149+2340

         .  g.52272
tgaggtcaca  c.1149+2350

--------------------- middle of intron ---------------------
                                      g.52273                 g.52281
                                      c.1150-2349  tgctgctga  c.1150-2341

.         .         .         .         .         .           g.52341
tccatcaaggaaggtgaacatagaaaccagtcgttgagttcaccagtggaggcaagaaag  c.1150-2281

.         .         .         .         .         .           g.52401
gggaacgtgtggaagtttccttctgattgcttccgcttactcagtgaaatactaagccag  c.1150-2221

.         .         .         .         .         .           g.52461
atgatcagctgttaattagaaaggagaagagattaaagactgaggcaggaagaaaaagtg  c.1150-2161

.         .         .         .         .         .           g.52521
aagtctgttaacagatcgtggtgactctaggagtgaatcagtggagaaagtcaagtgata  c.1150-2101

.         .         .         .         .         .           g.52581
ttaggattactgaggtggactgaagtccctttaagttctgtggacataaattttaaatga  c.1150-2041

.         .         .         .         .         .           g.52641
atcattatgattgtgttttgtttttttcatgtttagctggtggggggtaggtgtagaata  c.1150-1981

.         .         .         .         .         .           g.52701
attggaagattgaaattaccaagaattatggcaagaatagtgggagaaagacagtgaggc  c.1150-1921

.         .         .         .         .         .           g.52761
tgatgctgaaatcttcaagaaatgaaatctgtttacaagtgcaacagggtatgggcagcc  c.1150-1861

.         .         .         .         .         .           g.52821
tagtgtgattcatctagattgcacttttgtgggtctagctatggattgaatcgtgttatg  c.1150-1801

.         .         .         .         .         .           g.52881
tgttactagttctgtgtgtggtactgtgtgactgtaccagactttacatatccattttac  c.1150-1741

.         .         .         .         .         .           g.52941
taccgatgggaatttggggtacatctaacctagagaaaaaaacaaaatgaacctcagact  c.1150-1681

.         .         .         .         .         .           g.53001
acacctcatatcctgttcaataatcagttgtaaaaacatgggagagaaacctacctttta  c.1150-1621

.         .         .         .         .         .           g.53061
cattgttactagcatcctaattgtagaagctgtggatgatacttcaagaagaaattaatt  c.1150-1561

.         .         .         .         .         .           g.53121
ttgttttggcaggcagggtgtggacaggtttccttgaaacagatgaggctggtctctttc  c.1150-1501

.         .         .         .         .         .           g.53181
cggtttgtcattagtcccttagtgtttactagagcttctccttgaccaaccctgaattcc  c.1150-1441

.         .         .         .         .         .           g.53241
agttttttgtttccctagagcagtgaaagtgccaaaaccccagcttagcattttaacctc  c.1150-1381

.         .         .         .         .         .           g.53301
cttagcagcttctttctgcttggtttcctaaaatgtgaatgccgtgaaaggaaattgtgc  c.1150-1321

.         .         .         .         .         .           g.53361
gcaggatgtagggttttgttttgttttggaggtttatttctgcagttcatttttctttgg  c.1150-1261

.         .         .         .         .         .           g.53421
gattgtggcaccttaagacgtgactacttaataactcggaattccaatcttgtctactca  c.1150-1201

.         .         .         .         .         .           g.53481
acccagtgaaactgctacacattttaagtttttctcttgggcctttgccctgtgctacaa  c.1150-1141

.         .         .         .         .         .           g.53541
atcagcaaatcctctgatggaaaatagctaaacagctttccaacagctgtttattgtttt  c.1150-1081

.         .         .         .         .         .           g.53601
taaatttagcctgtttagctaatctcagtagaaggaattgtatttttaaagtaaaataac  c.1150-1021

.         .         .         .         .         .           g.53661
tatagagaagctagaaaggtgtcaattaggcatttagaagttcttgtgaaaccactgact  c.1150-961

.         .         .         .         .         .           g.53721
gttaatatacattgctataacatttcttggctgggtgcagtggctcatgcctgtaatccc  c.1150-901

.         .         .         .         .         .           g.53781
agcactttgggaggctgaggagggcggatcacctgaggtcaagagttcaagaccagcctg  c.1150-841

.         .         .         .         .         .           g.53841
gccaacatggcgaaaccctgtctctactaaaagtacaaaaaacttgccaggtgtggtggc  c.1150-781

.         .         .         .         .         .           g.53901
gggcatctgtaatcccagctactcgggaggctgaggcaggagaatcacctgaaaccgcga  c.1150-721

.         .         .         .         .         .           g.53961
agtggaggttgcagtgagccgagatcatgccactgcacttcagcctgggcgacagaatga  c.1150-661

.         .         .         .         .         .           g.54021
gactcggtctcaaaacaaacaaaaaaacaaacaaaacaaaatttcttacccaaatatcac  c.1150-601

.         .         .         .         .         .           g.54081
tccttgagtgaagcctgtcgtagctcccttatcatcagttccattctcttctgtggcacc  c.1150-541

.         .         .         .         .         .           g.54141
ctaggttttgtcactctcttctattatgtctgtgtatatttctcccagcatgtgatgagg  c.1150-481

.         .         .         .         .         .           g.54201
tctaaaactgggacagtcagctctgtgtttccccacctacaacacctgacacatagttca  c.1150-421

.         .         .         .         .         .           g.54261
ctctctatagaggttgaatgaatgaattgtcctttacctaaattcatctttgaggttaaa  c.1150-361

.         .         .         .         .         .           g.54321
tgcaaggtttccttttagtgtttcaagttttagagagatgattttgggcttagtgctgtg  c.1150-301

.         .         .         .         .         .           g.54381
tatagcattgactggggaaagaaagaggcagcagcattttaggtcataagcgatataaag  c.1150-241

.         .         .         .         .         .           g.54441
gaaccagcattcttgttgggaaatcacaacatatatgacatatatacaaacaatacaaat  c.1150-181

.         .         .         .         .         .           g.54501
acaaaattattgtcttgtcagaactaccatgttgacagcttcagggggtgccccagcagt  c.1150-121

.         .         .         .         .         .           g.54561
agtgtgaagggactcttggatttgtgcaatgcagtagccctgtctagaccacatacgggc  c.1150-61

.         .         .         .         .         .           g.54621
tgtgggaattaatattacttataaatacatcattacctctcagttttctgttactatcag  c.1150-1


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