methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC) - 6942 nt intron 01 reference sequence

(intronic numbering for coding DNA Reference Sequence)


         .         .         .         .         .         .  g.5290
gttagtttatccctcctgctgttctagggcgaaatatatgattggcttcgttgcaactgg  c.81+60

         .         .         .         .         .         .  g.5350
cgtgaggcctcgggagcctctgatcctcctgggttcctgcagcccagtgtccatgtgaca  c.81+120

         .         .         .         .         .         .  g.5410
acagggacagagtttcagtgggggcttgggttaaaaaggtagtggtcgaggccgggcatg  c.81+180

         .         .         .         .         .         .  g.5470
gtggctcacgcctgtaatcccagcactttgggaggccgaggcgggcggatcacctgaggt  c.81+240

         .         .         .         .         .         .  g.5530
gaggagttcgagaccagcctggccaacatggtgaaaccccatctctactaaaaatataaa  c.81+300

         .         .         .         .         .         .  g.5590
attagccgggcgtggtggtgcatgcctgtaatcccagctactcgggaggctgaggcagga  c.81+360

         .         .         .         .         .         .  g.5650
caattgcttgaacccatgagacggaggttgcagtgagccgagattgcgccattgcagtcc  c.81+420

         .         .         .         .         .         .  g.5710
agcctgagcaacaaagagcgaaactccgtgtcaaaaaaaaaaaaaaaaaaaaaagttgtc  c.81+480

         .         .         .         .         .         .  g.5770
gcatgtttaaccttttgccaccatataatgccggattcgttaacgggagacaccatatga  c.81+540

         .         .         .         .         .         .  g.5830
cctgtagcgtgtgtggctcagattgtcacctatataatttacaagaagaaagggacctgt  c.81+600

         .         .         .         .         .         .  g.5890
gaggcaaagtcaccttggaacttcctaaaggatttaggagagggcaaagcctagaaggtt  c.81+660

         .         .         .         .         .         .  g.5950
tgcatagctatcatttaggtcagctgaggaaggaagggcattcctggtgatgaacaggca  c.81+720

         .         .         .         .         .         .  g.6010
aacaattggctggtttgttccctctaccaacagaaggataattcatgatatttccagtca  c.81+780

         .         .         .         .         .         .  g.6070
tcagtgctgggctgggtaatgaaactttgtacacttgcctggcacagcagtctcagcacc  c.81+840

         .         .         .         .         .         .  g.6130
gcaccccgacccccatttacacggttacatttccccacatcagtgccctgtgcactgagc  c.81+900

         .         .         .         .         .         .  g.6190
agttaagttacaaagctaaatcagctcagcttgagccctttgcctgatgcttaagagact  c.81+960

         .         .         .         .         .         .  g.6250
acccacttcccattccttctgctgagtggctcacagcagtcctgggagaggatatagagg  c.81+1020

         .         .         .         .         .         .  g.6310
gagaagtaggttgggtctagcttgagactggtcttgccagaaaaaatggaattgagctat  c.81+1080

         .         .         .         .         .         .  g.6370
atatgaaaagatagattggaaggaaggagggttatgtacatcccaaatatcagaaaaagc  c.81+1140

         .         .         .         .         .         .  g.6430
ttgagtaaaggtgtggagatagtggtgtggtgttaccaagtaaaagggcttgatgcctga  c.81+1200

         .         .         .         .         .         .  g.6490
tgtgctggaagctaatattatgacactgggtttttgagaaaacaaaagctatttgttgca  c.81+1260

         .         .         .         .         .         .  g.6550
gatcgacctttaactctttgagacaccgtttcagtggatggcaggtgtgtgggagagtga  c.81+1320

         .         .         .         .         .         .  g.6610
gaatgcctatctggcaagttgagtagacctgggtattaggagcttttgtactgaacaaag  c.81+1380

         .         .         .         .         .         .  g.6670
ccaactgcagccctgccagtcaccctaggctcctacctctcacctccctacccccacatc  c.81+1440

         .         .         .         .         .         .  g.6730
caatcagccaccaagacctataagactgtctactgaatctcccaaatccattcccttgta  c.81+1500

         .         .         .         .         .         .  g.6790
ttccacccatctatgctgtggtccaggccaccatttctcacttggattactgtaataacc  c.81+1560

         .         .         .         .         .         .  g.6850
tccttgctgtaattttacctccagtccctcctccacactgcagccagtgtgatctaaaaa  c.81+1620

         .         .         .         .         .         .  g.6910
tgatcatgctagtttactccttaaatcttcagtggctcttcactgtcaccaaattaaatc  c.81+1680

         .         .         .         .         .         .  g.6970
catattccttaaattggtattcaaagccaatcaaaatctcactcctattgatctctccag  c.81+1740

         .         .         .         .         .         .  g.7030
ccttctctccctctgattccctctacagacccttcacttccaccaaactagacaattctc  c.81+1800

         .         .         .         .         .         .  g.7090
aaatatacccaggaattttctgccagtgtgtttgcttatgctgtgacttgtttattttat  c.81+1860

         .         .         .         .         .         .  g.7150
tctttatttatttagagacaaagtctcactctgtcctcccggccggagtgcagtggtgca  c.81+1920

         .         .         .         .         .         .  g.7210
atcatagctcactgcagcctcaaactcctgggctcaagtgatcctcccactttagtctcc  c.81+1980

         .         .         .         .         .         .  g.7270
caagtagctgactccaggcatgcaccaacactcagggtctcactttgttgccctggctgg  c.81+2040

         .         .         .         .         .         .  g.7330
tcttgaactcctggcctcaagtgatcctcctgcttcggccagccacccaaagcactggga  c.81+2100

         .         .         .         .         .         .  g.7390
ttacaggcatgagtcaccgcactcagtctgtgacctctttttaaaatacacaccagtgag  c.81+2160

         .         .         .         .         .         .  g.7450
tttatgtgttttttggtgaaatataaataataaataaatgcacaccagattctcctccct  c.81+2220

         .         .         .         .         .         .  g.7510
acatcaacctgacagttgaccagttgactttctagccttcaagacttagcatccaaggaa  c.81+2280

         .         .         .         .         .         .  g.7570
gccttttcttttctttttttttttttttgagatggagtttcgctcttgttgcccaggctg  c.81+2340

         .         .         .         .         .         .  g.7630
gagtgcaatggtgcgatctcagctcaccacaacctctgcctcccgggttcaagtgattct  c.81+2400

         .         .         .         .         .         .  g.7690
cctgcctcagcctccagagtaggtaggattacaggcatgtgccaacatacccggctaatt  c.81+2460

         .         .         .         .         .         .  g.7750
ttgtattttttttagtagagacagtttctccatgttggtcaggctggtcttgaactcccg  c.81+2520

         .         .         .         .         .         .  g.7810
acctcaggtgatctgcctgcgttggcctcccaaagtgctggaattacaggcatgagccac  c.81+2580

         .         .         .         .         .         .  g.7870
catgcccggccacaaggaagccttttctaatttcagaggacccttatctgaccctgtcat  c.81+2640

         .         .         .         .         .         .  g.7930
tgcactagctatagtacagtcatttctattgttcttagtggttctgcctattagaacttt  c.81+2700

         .         .         .         .         .         .  g.7990
ctgcagccaggcgtggtggttctcacctatatcccagcactttgggaggccaaggtgggt  c.81+2760

         .         .         .         .         .         .  g.8050
aaattactggaggtcaggggttcaagaccagcctggctaacatggtgaaatcccgtctct  c.81+2820

         .         .         .         .         .         .  g.8110
actaaaaatacaaaattaggtgggcgtggtggtgtgcacctgtaatcccggctactcggg  c.81+2880

         .         .         .         .         .         .  g.8170
aggctgaagcaggagaatcgcttgagcccaggaggtggaggttgtggtgagtcgagatcg  c.81+2940

         .         .         .         .         .         .  g.8230
cgccattgcagtctagcctgggcaagaagaagagcgaaactccatctcaaaaataataat  c.81+3000

         .         .         .         .         .         .  g.8290
aactctctaactctctgcttttttttttttttttttttttgagatggagtctcactctgt  c.81+3060

         .         .         .         .         .         .  g.8350
tgccccggctggagtgcaatggcaccatcttggctcactgcaacctctggctcccaggtt  c.81+3120

         .         .         .         .         .         .  g.8410
caagcgattctcccgcctcagcctcctgagtagctgagatttctgcctctctattctaag  c.81+3180

         .         .         .         .         .         .  g.8470
ttccctgccatataatacatgaacctataatagacatgagggggaacagacctaaccaca  c.81+3240

         .         .         .         .         .         .  g.8530
acagtcacattattagttgagcaccgacacagacttcacttatctgttacagcagtaaaa  c.81+3300

         .         .         .         .         .         .  g.8590
ccagctacaatcaaacaagtaatggtcatcccactctgtcccattaatgcacaaccccag  c.81+3360

         .         .         .         .         .         .  g.8650
gtagcctgtgtagacctgtgtcaagtgttctgcactatgagtcagaaatccccagtaagt  c.81+3420

         .         .         .         .         .   g.8701
gatgccggtatatacatagcactttgtgtgaacagcagaaacctccacaac  c.81+3471

--------------------- middle of intron ---------------------
       g.8702      .         .         .         .         .           g.8752
       c.82-3471  tacgtgatttagcaagttcattgcaggttatgttatgggtcttcggtttgg  c.82-3421

.         .         .         .         .         .           g.8812
gcttcttgtgacatctcttctccatgttcagtgtgtgaatgtgggtgtagacggtgttac  c.82-3361

.         .         .         .         .         .           g.8872
aggtgaatccaatttcttggatgtccaggccaagtggacaaaagcaaatattgtgtgtcc  c.82-3301

.         .         .         .         .         .           g.8932
taaaactgaaaataaagtttgcattaatcacatatttgctttgctgattggtcaacctca  c.82-3241

.         .         .         .         .         .           g.8992
aaaacacaggcttgctggccgggcacggagactcaagcctgtaatcccagcactttaggg  c.82-3181

.         .         .         .         .         .           g.9052
aggcggaggcgggtggatcatctgaggtcaggagttcaagaccagcctcgccaacatgat  c.82-3121

.         .         .         .         .         .           g.9112
gaaaccccatctcaactaaaaatacagaaaatgagccaggtttgctggcaggcacctgta  c.82-3061

.         .         .         .         .         .           g.9172
atcccagctcctcgggaggctgaggcaggagaatcacttgaacccaggaggcagaggttg  c.82-3001

.         .         .         .         .         .           g.9232
cagtgagccaagatcgcgccacaaactccagcctggggaacaagagcaaaattccatctc  c.82-2941

.         .         .         .         .         .           g.9292
aaaaaaaagaaaccaaacacaagattcctgttaggggtttgtagactaatatggtgttga  c.82-2881

.         .         .         .         .         .           g.9352
ccgtggtaacaagaaagtctgtcaaaagcaggaaaatcccatcctgggcaacatagggag  c.82-2821

.         .         .         .         .         .           g.9412
accctgtctctacaacaaattatttttttgttttaattagccagccaggtgtggtggctc  c.82-2761

.         .         .         .         .         .           g.9472
acacctgtggtcccagccactcgggaagctgaggagggatgattgcttgagggagggagg  c.82-2701

.         .         .         .         .         .           g.9532
ttgaggctgcagtgagctgtgatcacctcactgcactctagcctaggtgacaaagcaaga  c.82-2641

.         .         .         .         .         .           g.9592
ctatctcaaaaaaaagaagcagaaaaacccctgatgggctcaagtcagaggttaagtacg  c.82-2581

.         .         .         .         .         .           g.9652
tttctagcctctttggtagcatcagttcatcattaactgataaaaatggtttttttggcc  c.82-2521

.         .         .         .         .         .           g.9712
tggcacggaagctcacgcctgtaatcctagcactttgggaggccaaggtgggcagatcag  c.82-2461

.         .         .         .         .         .           g.9772
ttgaggccaggtgttcgagaccagcctggccaacatggcaaaaccccatctctactaaaa  c.82-2401

.         .         .         .         .         .           g.9832
atacaaaaaattagctaggcctggtagcacacgcctgttaatccctgctacttgggggac  c.82-2341

.         .         .         .         .         .           g.9892
tgaggcacaagaatcacttggacccaggaggcagaggttgcagtgagccaacatcatgcc  c.82-2281

.         .         .         .         .         .           g.9952
actgtaccctagcccctgggcgacagtgagactgtatacatttaaaaaaaaaaaaaaaaa  c.82-2221

.         .         .         .         .         .           g.10012
aagggccgttttgtttttaaagacaggttctcgcctggcgcggtgactcacgcctgtaat  c.82-2161

.         .         .         .         .         .           g.10072
cccaacactttgggaggccgatgcaggtggatcatgaggtcaagagatcgagaccatcct  c.82-2101

.         .         .         .         .         .           g.10132
ggccaacatggtgaaactccgtctctactaaaaaatacaaaaattagctgggcgtagtga  c.82-2041

.         .         .         .         .         .           g.10192
tgcacgcctgtagtcccagcaacttgggaggctgagacaggaaaatcacttgaacccggg  c.82-1981

.         .         .         .         .         .           g.10252
aggtggagattgcaataagccgaggctgcgccattgcactccagcctggcgacagagtga  c.82-1921

.         .         .         .         .         .           g.10312
gaatccgtctcaaaaaataaaataaaataaaataaaaaaacaaagacaggttctcactct  c.82-1861

.         .         .         .         .         .           g.10372
gttacccaggctggtctaaaactcttggccccaagcagtcctcctacctcagcctcccaa  c.82-1801

.         .         .         .         .         .           g.10432
agtgctgggattgcaggcatgagccaccgcgccgagcctaaaaacagtattttaagaaac  c.82-1741

.         .         .         .         .         .           g.10492
tgcctgggctgggcccggtggctcacgcctgtaatctcagcactttgggaggccaagtca  c.82-1681

.         .         .         .         .         .           g.10552
ggtggatcacgaggtcaggagatcgagaccaccctggccaacatggtgaaacctcatctc  c.82-1621

.         .         .         .         .         .           g.10612
tactaaaaatacaaaaattagccgggcgtggtggcacgtgcctgtagtcccagctactca  c.82-1561

.         .         .         .         .         .           g.10672
ggaggctgaggcaggggaatcacttgaacccgggaggcggaggttgcggtgagcctagat  c.82-1501

.         .         .         .         .         .           g.10732
cacgccactgcactctaacctgggcaacagagtgagactccgtctcaaaaaaaaaaaaaa  c.82-1441

.         .         .         .         .         .           g.10792
acaaaactgcctgttctctccaaattcatctctagagttagggttatatagcctggaact  c.82-1381

.         .         .         .         .         .           g.10852
atgatctcgtcttttgatctgtctgtatggagatgctctggatatagtaaaattttaatc  c.82-1321

.         .         .         .         .         .           g.10912
tattataaccccttgatcttcagtgaagacatagcttgctgccactgatagtttcccctg  c.82-1261

.         .         .         .         .         .           g.10972
atgacatatcaaaaggataaagaagtgctggttgggaagagactggtggaaccacatcgt  c.82-1201

.         .         .         .         .         .           g.11032
tttgtgtcatttgaggatgagttggactgtggcatgaacggcattgagggttcaggtggc  c.82-1141

.         .         .         .         .         .           g.11092
tttctccctctcaggcttggctgcagcaacatgcttctccagattaacaatatttttctg  c.82-1081

.         .         .         .         .         .           g.11152
aacaactgtcatggcatcatatgttgattctgctttgagaaatctccgatcttgtttttg  c.82-1021

.         .         .         .         .         .           g.11212
tcttaaaatgccttcaaggtgttggacttggagggcaagtgcgttgacagccactttgac  c.82-961

.         .         .         .         .         .           g.11272
tgttcctatgccctcatgcacctcagtcagttgtggatttaggaactctgctctgtgggt  c.82-901

.         .         .         .         .         .           g.11332
cctcgttcctgggtttttaattttcttttattattattattattttttgaggcgggggtc  c.82-841

.         .         .         .         .         .           g.11392
tcactctgttgcccaggctggagtgcagtggcacgatcttgtctcattgcaacctctgcc  c.82-781

.         .         .         .         .         .           g.11452
taccgggttcaagcgattctcctgcctcagcctcctgagtagctgcgattacaggcgagt  c.82-721

.         .         .         .         .         .           g.11512
gccaccatgcttgtctaatttttgtatttctagtacaggcagggtttcaccatgttggcc  c.82-661

.         .         .         .         .         .           g.11572
aggctggtctcaaactccagaccttaggtgatccacctgcctcggcctcccaaagtgctg  c.82-601

.         .         .         .         .         .           g.11632
ggattatagctgtgagtcaccacacctggcggggtttttcattttcattggttcatttgt  c.82-541

.         .         .         .         .         .           g.11692
agttggatgaggcctgaaattatttgctgtcagtcagtccttcaataaataaaataattc  c.82-481

.         .         .         .         .         .           g.11752
cctgggccaggctcggtggctcacgcctatataatcccagcactttggaaggccgaggca  c.82-421

.         .         .         .         .         .           g.11812
ggtgggtcctagctgaggccaggagttcggagaccagcctggccaacatggcgaaaccct  c.82-361

.         .         .         .         .         .           g.11872
gtctctactaaaaatacaaaaactagccaggcgtggtagtgcacatcgtaatcccagctg  c.82-301

.         .         .         .         .         .           g.11932
ctcgggaggctgaggcatgagaatcacttgaatctgggaggccaaagttgcagtgggcca  c.82-241

.         .         .         .         .         .           g.11992
agatcatgccactgcactccagcctgggtgacagagcaagactctgtctcaaaaaataat  c.82-181

.         .         .         .         .         .           g.12052
gaattccctgtcaaattcagttgagttgcttataaaaatgcatcacatagcgtcagtgaa  c.82-121

.         .         .         .         .         .           g.12112
aattcactgaatgagtgagatggaggctggggcaaaagtgtgaggcctgaaggttaaggt  c.82-61

.         .         .         .         .         .           g.12172
gtgggccaggctgaggcctagactggccctctccagcctggcctgaactttctgtttcag  c.82-1


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