MTHFR Color FASTA
The longest form of insertion/deletion sites is shown in the FASTA sequence and contain a '-' as the alternate allele in the variation tag.
*Display courtesy of GeneSNPs

AATCAGAGGG TTTACAGGTG GTTCAGCTTC CTCCTACTCT AGGTTCTGTT 50
CCAGCAAGCA ATTAACGAGG TGCGCCCTTA AACGCTGGAG GAAAGCCAAC 100
TGGCTGCTCT TGCTGTTACT CCTCCCCCCC GCCCCCGTTC CTCACTCCCC 150
ACAGCCATCC CCACTGAGAA TCTGGAGTTT GAGGTCAGAA TGAAAGAGAG 200
CAGCCCTAGA GGGAGAAAGC TTTGGCCCAG GGTTCTTAGT CTGGAATCAA 250
CTCCTTGTCT TTGGATGTAT CCCCGTGTAG TCTGTGCACC TGTGTGTGTA 300
TTTCAGGGGA AGGGAGCAGT GCATTTAATC AGATTGTCAA AAGAGTCTAA 350
GACCCCAAAT GGTTAGGTAC ACAGGGTTAG TGGTGGACAG TCTGAAAGAA 400
ATGAACCTCA CCTGGGCTTT CCTCTGTTGT GCCATGTCAC CACACACCCA 450
TTCACTACTG TGTGTTTGCC CATTGCTGTG CAAGTGTTTT GTTTGTTTTT 500
AAGTGTTTGT CTTATTTTCT TAACCAGACT GCCAGATGAC CCTATGCCCT 550 | var(539):[G:0.04]
CTGTTGGCCT GTCTGTGCCC TGGTGGCTCT GATTACTTGT TTCTGTTTTT 600 | REPEAT
TGTTTTTGTT TTTTTTTTTG AGATGGAGTT TTGCTTTTGT CGCCCAGGCT 650
GGAGTGCTAT GGCACAATCT TGGTTCACTG CAACCTCTGC CTTCCGGGTT 700
CAAGCGATTC TCCTGCCTCA GCCTCCAGAG TAGCTGGGAT TACAGGCGCC 750 | var(747):[T:0.09]
CGCCACCAAA CCTGGCTAAT TTTTATATTT TTAGTAGAGT CGGGATTTCA 800
CCATGTTGGC CAGGCTGGTC TCAAACTCCT GGCCTCAGGT GATCCACCCA 850
CCTCGGCCTC CCAAAGTGCT GGGATTACAG GTGTGTTTTT TGTTTTTTTA 900 | var(863):[G:0.08] | REPEAT
AGAGATGGAG TCTCGCTATG TTGCCCAGGC TGGCCTTGAA CTCCTGGGCT 950
CAGGCAATCC TTCTGCCTCA GCCTTCCCAG TAGCTGGGTC ACTGTGATGA 1000
TTTGAATTGA ATTCTGTGAT GTGTAAGAAG AGCAGCCTGC AAGGCAAGCA 1050
CAGATGGGGC AGCTTTTGTT CTGAGAAATT CGTGCCCTTA CTGAACTTGG 1100
GTCTGGCTAT TTTTGGAACA TGGCCAGCAT CAAGTTCTAA CCCACAACAC 1150
GGTCTTTTTG GAGTAGCATG AATTCAGGAG AAATCTGGCT GCATAGTCAA 1200 | var(1151):[T:0.01]
GCCCTCACCC CTTCCATCCT GTGCACGAAC TGTTTCAAGT AACAGATGTT 1250 | var(1221):[A:0.12]
CCAGGCAGAG CCAGCCAGAG TGAGCTGTTC CTTCTCTGGA GGGTGATCTG 1300
GTATCCCTGA ACGCCTGTTG GCCTCATCTC CACCAACCCC TGCAGTCTCT 1350
GCCCCTGAGT CCCCCTCCTT CCATCCGCCT CCCCTTACTA GAGCCTCAGC 1400
CCTCCCTCCT CGCCTGGAAG CCTTGCCCCC GCCCCCTTGT GCTGGCTGGA 1450
GCTCAAGCCT CTTCCTTTGT CGCAGCTCCG CCCAGTTGAA CACACCCGCT 1500
GGGGAAGGTG CCTCTGTTCC CTCCCCACGC ACTCTGGGCC TGAGCTGACA 1550
GAGATGGACC ATCGAAAAGC CAGGGTCCTC CCAGCTGGGC ACTACTGCCC 1600 | var(1559):[A:0.01]
CTCGCTAGGA ATATGGGCCT CGCAGGTCGG CAGCGTGAGG TCCTCTGTGC 1650
CACCTTCCAT CAGGTAGCTG TCACCGAGGA GCATGTTGCA GTGCCGGGTG 1700
GGGGCTGCCT TGCATGCAAG GAGCCTGGCA GCAGCGGAGG GCAAGGCTTT 1750
GAGTGAGGCG GCCCGGACAG CCATAGCTGA GGAGCATGGA GCCACTGGGA 1800
GGGGGCAGTG TCACCTTTTT TGGCCTTCTT CCTGTGTGGA AATACAGCGC 1850 | var(1848):[T:0.04]
CTCCGGCTTG AACCTGCCAC TCAGGTGTCT TGATGTGTCG GGGGTGTGGC 1900
TGCCTGCCCC CTGATGCTCC CTGCCCCACC CTGTGCAGTA GGAACCCAGC 1950 | Exon 1 | UTR
CA
TGGTGAAC GAAGCCAGAG GAAACAGCAG CCTCAACCCC TGCTTGGAGG 2000
  M  V  N   E  A  R   G  N  S  S   L  N  P   C  L  E   16
GCAGTGCCAG CAGTGGCAGT GAGAGCTCCA AAGATAGTTC GAGATGTTCC 2050
G  S  A  S   S  G  S   E  S  S   K  D  S  S   R  C  S  33
ACCCCGGGCC TGGACCCCGA GCGGCATGAG AGACTCCGGG AGAAGATGAG 2100 | var(2068):[T:0.11]
 T  P  G   L  D  P  E   R  H  E   R  L  R   E  K  M  R 50
GCGGCGATTG GAATCTGGTG ACAAGTGGTT CTCCCTGGAA TTCTTCCCTC 2150
  R  R  L   E  S  G   D  K  W  F   S  L  E   F  F  P   66
CTCGAACTGC TGAGGGAGCT GTCAATCTCA TCTCAAGGTA AACTCATGCA 2200 | var(2154):[A:0.01] | var(2190):[G:0.01]
P  R  T  A   E  G  A   V  N  L   I  S  R               79
AGGTTAAGGT GGGAGGCGGG AGTGGTGGTG CCTGGGGAGC AAACTGTCAG 2250
CCCTGAGGCT GGGCTGCCCT TTAACCCGGC AGAAAAAAGC AGCCGGAGGG 2300
GGCAGGAAGG AGAAGGCAGA GTGGGTCATC TGATCTGCAA CTTCTCTGTT 2350 | var(2347):[C:0.04]
GCCTGTAAAA GTCCCTCCAC AGTGTCAAGG TATTTTAGAC ACACTCTTCA 2400
ATGGGTTAAA AATGTTGATT CTCACACTGT ATTCTTTGAG GGAACTTGGG 2450
GGCTGGATCA CGAGTGCAGT TTAGGAAGTC ACAAAGCAGT GAGATTGTTT 2500
TCAGCAAGTT AGAAATTTGG ATTATGCTTC TTGAACTCTA GAAATGCCAA 2550
CTGAATTACA TTAGCACTTC ATGAATTGCA GTTTTTTTTT TAAGTTTATG 2600 | var(2582):[:0.10]
CCTTTTACTG TATGCACGTC TCACGTGTCA CTCCCAAGTT TTTGAAGTTT 2650 | var(2603):[:0.01]
AAATGCACAA GGATGTTTAA ATACACCGTT GATAGCTTGT AACACAAGTA 2700
CTCGTGCACA TCCAGGCTTT TTTTTGAGTC TCGTTTCGGA ACTTGGCCTT 2750
GGTCTGCATA ACTGTAAGCT GCTGCACAGG GCTTGGGGGG TGGCATGAAA 2800 | var(2793):[A:0.04] | var(2794):[T:0.04]
GAAAGTGAGT CTGCTGACCC TCTTTCTAAC TGTTCCTACA GCGAGGCTGT 2850
GCTTGCCACA GTTAGGATTC CCCTAACTCT CAATCATGAT GTCTTAACTC 2900
ACCTGAGATA ATAAACAGGC AAGCGCTGTG AAAAGTCTGA AGTGCTGCTC 2950 | var(2911):[G:0.26]
TCACACAAAA TGATAGCGCT GTTGTTGTGT CTTACCTCTG TAATAGTGAT 3000 | var(2962):[T:0.09]
TATAACGGCA CCTCACATAT ACTGAGTATT CGGTTTGTAC ACCAGGCACT 3050 | REPEAT | var(3048):[C:0.01]
GTTCTAAGTT CTGTGGAACC AGCTGCCGTC ATATTCTCCT AGTGTTATGG 3100 | var(3078):[A:0.11]
TTTTTTGTTG TTGTTGTTGC TTTTTTTTTT TTTTTTTTTT TTTTGAGACA 3150 | REPEAT
GAGTCTCATT CTGTGGCCCA GGCTGGAGTG CAGTGGTGTG ATCTTGGCTC 3200
ATTGCAACCT CTGCCTCCTG GCTCAAGCAA TTCTCCTGCC TCAGCCTCTC 3250
AAGTAGCTGG GATTACAGGT GCCCACCACC ACACCCAGCT AATTTTTGTA 3300 | var(3270):[C:0.15]
TTTTTAGTAG AGATGAGGTT TCACTATGTT GGCCAGGCGG TCTGGAACTC 3350 | var(3338):[A:0.01]
CTGACCTCAA GTGATCCACT CACTTCAGCC TCCTGAAGTG CTGGGATTAC 3400
AGGCGTGAGC CACCACGCCC AGCATCCTAG TGTTATTATG AAGTGGGTAC 3450 | REPEAT
TACTATCTGC CGTGTCTTAT AAATAAGGAA ACAGAACTCA CAGAGATTAA 3500 | var(3461):[T:0.01]
GTAATGTACC CAAGATCACA CAGCTATAAG TAGCAAAGCC AGGATATGAA 3550
CGCTGATTGG TCTGTCTCCA ACCTTCATTG ATGCTTCTCT AACTCCCGGG 3600
CCCCATGGGA AGGCAGTGAC GGATGGTATT TCTCCTGGAA CCTCTCTTCA 3650
GAAACAAACC CCCTACAGGT TTGACCGGAT GGCAGCAGGT GGCCCCCTCT 3700 | Exon 2
                      F  D  R  M   A  A  G   G  P  L   89
ACATAGACGT GACCTGGCAC CCAGCAGGTG ACCCTGGCTC AGACAAGGAG 3750
Y  I  D  V   T  W  H   P  A  G   D  P  G  S   D  K  E  106
ACCTCCTCCA TGATGATCGC CAGCACCGCC GTGAACTACT GTGGCCTGGA 3800 | var(3777):[A:0.01]
 T  S  S   M  M  I  A   S  T  A   V  N  Y   C  G  L  E 123
GACCATCCTG CACATGACCT GCTGCCGTCA GCGCCTGGAG GAGATCACGG 3850 | var(3849):[A:0.02]
  T  I  L   H  M  T   C  C  R  Q   R  L  E   E  I  T   139
GCCATCTGCA CAAAGCTAAG CAGCTGGGCC TGAAGAACAT CATGGCGCTG 3900
G  H  L  H   K  A  K   Q  L  G   L  K  N  I   M  A  L  156
CGGGGAGGTG TGGAGCCAGC ACTCCCCTAC ACTCTGGGTT CTGGCTTTCC 3950
 R  G                                                  158
CGGAGGCCAC TTGGTAGCCT GAACTTGGTT CCTGAAATGG TCCTTTACTT 4000
CTTCCTGGGC CCCACGCTGA GGATCCGCAG GATCCCATCC CCGCCAGTAG 4050 | var(4002):[C:0.01]
TGTCAGTAGG CATTGTGGGT AGTGAGTCAT CCTGGGCACC ACACACAGGC 4100
AGCCACCTCT TCCACCTCTT GACCTCGACA TAGGAGTTCC GTCAGGAATG 4150 | var(4134):[A:0.02]
CAGTCGCGGC CTGATAACCC TCTGCCTTGC CTACACCACT GCATCGATTG 4200
CTGGCTGCAC CCAGCACTTG GCCCAATCAC AGAGTAACAG AGTATCCAGG 4250
AGTGAGAATA GCCGGTCAGG CCTCTGGTGC CCGCTGTTGT CAGGCCACCT 4300 | var(4282):[T:0.18]
AAGAGTGGGA AGAGGGAGCC TGATGGGTGG GATCCTATGG CCTCGTGCTC 4350 | var(4318):[A:0.12]
CCTACCACAA GACCCCTTCA CTTGAGATGA GTAGAAAATT CTCCCAGGAG 4400
GCAGGAGCCC CAAGGCCGTG GGATGGGAGA GGGTGGCAGG CGTGCCCAGG 4450 | var(4441):[T:0.02] | var(4442):[A:0.21]
TAGAAGTAGG GAAGGGCTCT CCAATCCTCC AGGCACGGTG AGAAGCAGCG 4500 | var(4467):[T:0.01] | var(4477):[T:0.01]
GTGGTCTCCT ATTCTCCACC GCCAGCACAG GGTCAGCATG CAGTGAATAT 4550
TGAACTGGTG GGCTGCTTTT TTCCCTCCTG CTGTCTTACC AAGTGCTAGA 4600 | var(4594):[C:0.01]
AAGAGACGAA CCAAACCTAA ATAATATGAA GTTTCTGCCT TCCAGGGACT 4650
CGCAGTCCTG GGTGTCGGGG CTAGGTAGAG GGAACAGAAA GGGTCTCTGG 4700 | var(4654):[G:0.01] | var(4660):[C:0.03] | var(4667):[A:0.12] | var(4670):[A:0.02]
AGGTTGGGTG AGACCCAGTG ACTATGACCT CCACCAACCC TGCAGACCCA 4750 | Exon 3
                                                 D  P  160
ATAGGTGACC AGTGGGAAGA GGAGGAGGGA GGCTTCAACT ACGCAGTGGA 4800
 I  G  D   Q  W  E  E   E  E  G   G  F  N   Y  A  V  D 177
CCTGGTGAAG CACATCCGAA GTGAGTTTGG TGACTACTTT GACATCTGTG 4850
  L  V  K   H  I  R   S  E  F  G   D  Y  F   D  I  C   193
TGGCAGGTGA GTGGCTGGAT CATCCTGGTG GCGGGGATGG AGCTAGGGAG 4900
V  A                                                   195
GCTGAGATGC CCAGAGAGCC TGTCGGTGTT CGGTTCAGGA CACAGTGATC 4950
AGGGGCACTC ATGGGTCCAT GCTGGATGAA GGACATGCAG AGGTGAACTG 5000 | var(4960):[T:0.01]
CACCGTGTCC TTGCTCCTTT TGTATCACCC ACTCCCCTCC TGGGCCTGCC 5050 | var(5005):[A:0.20] | var(5008):[C:0.11]
ACCATCGACC CCTAGCTTTT TGTTCCTCTG CCTGGCTGTG CCCTTAGCCT 5100
GCTTGGCCTT ATTCTTTTCT TTAAAACGAA AGAGGGGTCT GGGCGCGGTG 5150 | REPEAT
GCTCACACCT GTAACCCCAA CACTTTGGGA GGCCGAGGCA GGCAGATCAC 5200
CTGAGGTCAG GAGTTCGAGA CCTGCCTGGC CAACATAGCG AAACCCCGTC 5250 | var(5217):[A:0.03] | var(5248):[A:0.02]
TCTACTAAAA ATACAAAAAT TAGCCAGGTG TGGTGGTGCA CGGCTGTAGT 5300
CCCAGCTACT CAGGAGGCTG AGCCAGGAGA ATCTCTTGGA CCCAAGAGGC 5350
GGAGGTTGCA GTGAGCCGAG ATGGTGCCGC TGCAGTCCAG CCTCAGTGGC 5400
AGAGCAAGAC TCCATCTCAA AAAAAAAAAA AAAACAACAC CCCACAAAAG 5450 | NOT SCANNED
AGGGATATTT ACTAACAGGA TTCCAGAGGG CAGGGAACCC AAGATCAGGA 5500
GATGGCCTCA GACCTCACAA GGCACTGGAA GAGGTCAAAA AGCAAGGCCC 5550
TCCCTCATTC CCTCTGGGGC CACAGGGTCC CCCATCTCCG CTTCCCACTG 5600
CACATCTGTG CTTCATCTGG GAGACCTGAT ACCCATGCTT TTCCACACAC 5650
CTGGCCTGCT CCTGAGTGTG CAGAGTGTCA GTTCCAGCCA GTTCCCCAGG 5700
CTAATGGACA GGCCTCCGTT CCAAATTCCC AGGAAAGAGA ATCACCATTG 5750
GCCACAGCCA CAAGACCAGG TTCCCCCAAC AGAAATGGGT GGGTTGGACT 5800
TCTCTCCCAC CCTTGAAGCT GAAGGCTGGC ATTGAGCCCT CAGCGTCTCA 5850
GACAGCGCTC AGGTATGGCA AGACAGTGTG CACCAGGGAC AGGAAGTCCC 5900
GGGATTGGCA CATTTTCTGG GATGACAGTT TTTTTGCCAA TATTCTGGGA 5950
GAAATCCTAC CATTTTTATA TTAAACATGG CTATGTTATG GAGTAGCATC 6000
TAAAGTGATA TGAACTAAAA AAAAAAGGCC AGGTGCGGTG GCTGAAGCCT 6050 | REPEAT | var(6044):[A:0.02]
ATAATCCCAG CACTTTGGGA GGCCAAGGCG GGTGGATCAT GAGATCAGGA 6100 | var(6083):[C:0.03]
GTTTGAGACC ATCCTGTCCA ACATAGTGAA ACCCCGTCTC TACTAAAAAT 6150
ACAAAAATTA GCCGGGCATG GTGGCGCGTG CCTGTAGTCC CAGCTACTTG 6200 | var(6168):[G:0.15] | var(6178):[A:0.01]
GTAGGCTGAG GCAGGAGAAT CGCTTGAACC CAGGAGGCGG AGCTTGCAGT 6250
GAGCCGAGAT CGCACCAATG CACTGTAGCC TGGGCAACAG AGCCAGACTC 6300
CGTCTCAAAA AAAACAAAAC AAAAAACCCA AAAAACAAAC CACGTGGCTT 6350
CAAGAAAATT ACATGTTGTG AGTAACTTTG GCCTTGTCCC TAACCCCCGA 6400
TGGACATGTC CATTCTGTCA ACAGGGGTGT TTAGGTGCTA AGTCTGGGAA 6450
GCGCTGATTA GGAGTCAGAG AACAGACATT TCCAACTGTT AAATTGTCAT 6500
CGCTTGTATC AGCCATTATA TAGTCAGTTA CTGGGGGAAT ATGCACCCGT 6550 | var(6541):[G:0.03]
GATGGGCGTT AGGTGATAAT GATTGGAAAC TAGTGAAGCT GTGAGCTCAC 6600 | var(6575):[A:0.12]
AGTTGCTGAA TGGTTTCTTA CTTTGCTTAT CAAGTGGGTA ATGAAGATGA 6650
GTGGATTAGA AAACACCAAC CTGTTGGGCA TGGTAGCTCA TGCCTGTAAT 6700 | REPEAT
CCCAGAGCTT TGGGAGACTG AGGCAGGAGA TCAAGACCAG CCTGGGCAAC 6750 | var(6722):[A:0.03]
ACAGTGAGAC CGTGTCTCTA CAAAAAATAA AAACATTTTA AAAAAGAAAG 6800
CCCTCAGCTG TTCATGATAG AAAAATAGAG TAAATAGCAA AATCTATACG 6850 | var(6801):[T:0.11]
TAATCAAATG CTAGATTTGT TCGGTGATAT TTAGGTATTG TAGCTATACT 6900
TTTCAGCTAT TAAAAAGCCT TGTTGTTTCT GAAATTCCTA CTGGGAAAAT 6950
AGCTTTGTTA TTGCAAGTGT GAAGCCCCAT TGCTTTATCC CCCACTCCCT 7000
TACCCCTTGA AACAATAGTT TTTATATTCA TTTTTTGATG ACTCTGGGTT 7050
TCTTAAGAAC GGAACTGCCT TATCAGAGCA AAGCAGCTTG GCCTTCCGCC 7100 | var(7089):[C:0.19] | var(7093):[T:0.01]
TGGCTCAGAG TCCTGCCCTG GGCTTGGGCT GATGAAACCA GCACTCCATG 7150
TAGTTTCATG AAGGCCTATG GTCGTCCTGC TTGCCTGACC GAGCAAGGCG 7200 | var(7174):[A:0.47] | var(7199):[T:0.13] | var(7200):[T:0.13]
GCTAGTAAGT TTAGTCATTG AGGAAAGGGG TCAGAGAGTT CACAGAGCCA 7250 | REPEAT
GTAAGGAGCC TATGGGACAT CTGATCCCAC CTCCTAAGCA ATTCTGGAAT 7300
CTTGTCTTCA GCATCCACTG CCCCTGTGTT TTCAGACTCC AGGAGCTCAT 7350 | var(7337):[T:0.12]
TGTTTTGTGA GTGGCTTATA GTACTCTAGC CAGCTCTCTG AACCGGATGC 7400
TGGTTCTGCC ATTAGAAACA ACACAGAATA TGACTAATAA AGAACTTCAC 7450 | var(7414):[G:0.04]
TAGGGGGCTG GGTACAGTGG CTCATGCCTG TAATCTCAGC ACTTTGGGAG 7500 | REPEAT
GCCAAGGTGG GAGGATTGCT TGAGCCCAGA AGTTCCAGAC AAACCTGGAC 7550 | var(7549):[G:0.04]
AAGATAGCAA GACCCCATCT CTAAAAAATA AATAATTAAT TAAAAAAAAA 7600 | var(7599):[T:0.07] | var(7600):[T:0.46]
T
TTTTTAATT AGCCAGATGT GGTGGCTTGC ATCTGTAGTC CAAGCTACTC 7650
AGGAGACTGA AGTGGGAGAT CACTTGTGCC CGGGAGTTCA AGGCTACAGT 7700
GAGCCATGAT TGTACCACTG CACTCTAGCC TGGGTGACAG AGCGAGACCC 7750 | var(7715):[T:0.23]
TGTCTCTGAA ACAAAACAAA ACAAACTCAC CTATGGTGGA TCCTTTTTCC 7800 | REPEAT
CCAGGACAGA CCTTTGGACA TTTGAAAGGA GTTTCTGTAT TCTTTTCATT 7850 | REPEAT
CTTTTTTTTT TTTTTTTTTT TGAGACGGAG TTTCACTCTC GTTGCCCAGG 7900 | var(7885):[G:0.40]
CTAGAGTGCA ATGGTACGAT CTCGGCTCAC TGCAACCTCT GTCTCGTGGG 7950 | var(7918):[A:0.02]
TTCAAGCAAT TTTCCTGACT CAGCCTCCTG AGTAGCTATT ACAGGCATAC 8000
ACCACCACAC CTGGCTAATT TTTGTATTTT TGGTAGAGAC GGGGTTTTAC 8050
CATGTTGGCC AGGCTGGTCT CGAACTCCTG ACCTCAGGTC ATCCTCCTGC 8100
CTTGGCCTCC CAAAGTGCTG GGATTACAGA CATGAGCCAC CGCACCCTGC 8150
CATCCATTAT TTTCTTTGAA GAAAACATCA CTTTCTTCAG TTCTTCCTTG 8200 | REPEAT
TGTAACTTGG TTTTTAGCTT TTCACTATCT TGGACCCCTG AGTAATTTCA 8250
GTGTTACATT AAAAACAATG TTTAATCCGG TGCCTAGAGA AAAGTCAAGC 8300 | var(8278):[T:0.04]
TTAGTACCCC AGATGCTGCC CAGCCAGTGC TAACTGTAGC ATTTTCTCTT 8350 | var(8304):[C:0.08]
TTCTATGGCC ACCAAGTGCA GGCCTGATTT GCTTGGCTGC TCAAGGCAGG 8400
ACAGTGTGGG AGTTTGGAGC AATCCACCCC CACTCTTGGA ACTGGGCTCT 8450
GAGCCACCTC CCCTGAGAGT CATCTCTGGG GTCAGAAGCA TATCAGTCAT 8500
GAGCCCAGCC ACTCACTGTT TTAGTTCAGG CTGTGCTGTG CTGTTGGAAG 8550
GTGCAAGATC AGAGCCCCCA AAGCAGAGGA CTCTCTCTGC CCAGTCCCTG 8600
TGGTCTCTTC ATCCCTCGCC TTGAACAGGT GGAGGCCAGC CTCTCCTGAC 8650
TGTCATCCCT ATTGGCAGGT TACCCCAAAG GCCACCCCGA AGCAGGGAGC 8700 | Exon 4
                   G   Y  P  K   G  H  P  E   A  G  S  206
TTTGAGGCTG ACCTGAAGCA CTTGAAGGAG AAGGTGTCTG CGGGAGCCGA 8750 | var(8747):[T:0.22]
 F  E  A   D  L  K  H   L  K  E   K  V  S   A  G  A  D 223
TTTCATCATC ACGCAGCTTT TCTTTGAGGC TGACACATTC TTCCGCTTTG 8800
  F  I  I   T  Q  L   F  F  E  A   D  T  F   F  R  F   239
TGAAGGCATG CACCGACATG GGCATCACTT GCCCCATCGT CCCCGGGATC 8850
V  K  A  C   T  D  M   G  I  T   C  P  I  V   P  G  I  256
TTTCCCATCC AGGTGAGGGG CCCAGGAGAG CCCATAAGCT CCCTCCACCC 8900
 F  P  I   Q                                           260
CACTCTCACC GCACCGTCCT CGCACAGGCT GGGGGCTCTG GGTGGAGTGC 8950
TGAGTTCGCT GAGTTCTTCC CAGATCTCCT CTCAGGTCCA GAACTTGCAC 9000
AGCGTTGCTT GGCCACCCCA TTTTGGTTAC CTCTAATTTT CCCCCCAAAA 9050 | var(9041):[T:0.02]
CCCAGCAACA GTGTCTGTTG AGGGGTTTGT TGTACTTTGG CCAACAAGCA 9100
TCACCAAAAG GGATTCTAAT TCTCATTACA AATCCTGCTT AAATCAGTGT 9150 | REPEAT
TTCCCAAAGG TGGCTGTCAT CAGAACCACT TGATAAGCTT TTTCAAAAAG 9200
TGGATCTCCA GGTCCCACCC CTGGAGGTTC TCACTCAGTA AATCTGAGGG 9250 | var(9228):[G:0.04] | var(9237):[G:0.01]
AGGTCCTTGG AATGTGTGTT TTACTTCTTG AGCTTGGCAG GTGATTCGGA 9300 | var(9258):[C:0.39]
TGATCAGTGC AGCATGGGAA CAGCTGGGTT AGATGACACC ATGTTACCAA 9350
CAGACACATC TAGGGCTAAA AGGCTGGCTC AACCCAAGGC TGGAATGCTT 9400
AGGGCAGCTG CTCTACTCTG TAAAAAGTGG GAAAGCTGGG CATAGTGGCA 9450 | REPEAT
CGTGCCTGTA GTCCCGGCTA CTTGAGAAGC TGAGGCAGGA GGATGGCTTG 9500
AGCCCTGGCG TTTGAGAGCA GTGAGACTCA GTCTCTAAAA ACAGAAAAAA 9550
GAGGAGAAAA CGGCAGGCCA AGCCCAGGTG TGCTCCTAGA ATATGATCGG 9600
ACTTTCGTGG GTCCCTCTGC CTGACACTGT GGTTGGCATG GATGATGGAA 9650
GGGGGAGAAG TATTTAGGGT GGGAGACGGG CTGGCCAGCA GCCGCCACAG 9700 | var(9678):[A:0.01]
CCCCTCATGT CTTGGACAGG GCTACCACTC CCTTCGGCAG CTTGTGAAGC 9750 | Exon 5
                      G  Y  H  S   L  R  Q   L  V  K   270
TGTCCAAGCT GGAGGTGCCA CAGGAGATCA AGGACGTGAT TGAGCCAATC 9800
L  S  K  L   E  V  P   Q  E  I   K  D  V  I   E  P  I  287
AAAGACAACG ATGCTGCCAT CCGCAACTAT GGCATCGAGC TGGCCGTGAG 9850
 K  D  N   D  A  A  I   R  N  Y   G  I  E   L  A  V  S 304
CCTGTGCCAG GAGCTTCTGG CCAGTGGCTT GGTGCCAGGC CTCCACTTCT 9900
  L  C  Q   E  L  L   A  S  G  L   V  P  G   L  H  F   320
ACACCCTCAA CCGCGAGATG GCTACCACAG AGGTGCTGAA GCGCCTGGGG 9950
Y  T  L  N   R  E  M   A  T  T   E  V  L  K   R  L  G  337
ATGTGGACTG AGGACCCCAG GTGAGGGCAG TGGCCCAGAG ATCCCCAGAG 10000
 M  W  T   E  D  P  R                                  344
GAGGGTCCAA GAGCAGCCCC GGCTGCAGTG CTGGCTCCCC ACGGTGGTAC 10050
AGATGGATGT CTGTGCCATG GCTAGCTGGG CACATCGAAG GCTCCAGTCT 10100 | var(10087):[A:0.05]
CAGAGGGCAT CAGATGGAAG AACTCAGCCT CAGGGGTGCT CCCCTGCTTC 10150
CGGCTCCCTC TAGCCAATCC CTTGTCTCAA TTCTCTGTCC CCATCCTCAC 10200 | var(10199):[G:0.01]
CCAGGCGTCC CCTACCCTGG GCTCTCAGCG CCCACCCCAA GCGCCGAGAG 10250 | Exon 6 | var(10229):[T:0.13]
      R  P   L  P  W   A  L  S   A  H  P  K   R  R  E  359
GAAGATGTAC GTCCCATCTT CTGGGCCTCC AGACCAAAGA GTTACATCTA 10300
 E  D  V   R  P  I  F   W  A  S   R  P  K   S  Y  I  Y 376
CCGTACCCAG GAGTGGGACG AGTTCCCTAA CGGCCGCTGG TGAGGGCCTG 10350
  R  T  Q   E  W  D   E  F  P  N   G  R  W             389
CAGACCTTCC TTGCAAATAT ATCTTTGTTC TTGGGAGCGG GAGGGCAGAA 10400 | var(10370):[C:0.41]
GAAGTTTGCA TGCTTGTGGT TGACCTGGGA GGAGTCAGGG GCAGAATTTA 10450
CAGGAATGGC CTCCTGGGCA TGTGGTGGCA CTGCCCTCTG TCAGGAGTGT 10500 | var(10454):[T:0.24]
GCCCTGACCT CTGGGCACCC CTCTGCCAGG GGCAATTCCT CTTCCCCTGC 10550 | Exon 7
                                  G  N  S   S  S  P  A 396
CTTTGGGGAG CTGAAGGACT ACTACCTCTT CTACCTGAAG AGCAAGTCCC 10600
  F  G  E   L  K  D   Y  Y  L  F   Y  L  K   S  K  S   412
CCAAGGAGGA GCTGCTGAAG ATGTGGGGGG AGGAGCTGAC CAGTGAAGAA 10650 | var(10627):[A:0.01] | var(10649):[C:0.27]
P  K  E  E   L  L  K   M  W  G   E  E  L  T   S  E  E  429
AGTGTCTTTG AAGTCTTTGT TCTTTACCTC TCGGGAGAAC CAAACCGGAA 10700 | var(10668):[C:0.08]
 S  V  F   E  V  F  V   L  Y  L   S  G  E   P  N  R  N 446
TGGTCACAAA GTGAGTGATG CTGGAGTGGG GACCCTGGTT CATCCCCTGC 10750
  G  H  K                                              449
CCCTGGCCTG ACCCCAGCTG CAGGCCAGGC TGCGGGGCTG TGACTTCCCC 10800
ATCCTGTGCC CTCCCCTCCA TGCTGTGGAC ATGGCAAAGG GAGAAGGGTA 10850
AGTTGGGAGA CCTCCACCTG GAAGGGCTTA GGGAGGCAAA GACAGGCTGG 10900
GTCTTTGTTG GGGGCCGTGA GAGGGACTCA GGGTGCCAAA CCTGATGGTC 10950
GCCCCAGCCA GCTCACCGTC TCTCCCAGGT GACTTGCCTG CCCTGGAACG 11000 | Exon 8
                               V   T  C  L   P  W  N   456
ATGAGCCCCT GGCGGCTGAG ACCAGCCTGC TGAAGGAGGA GCTGCTGCGG 11050
D  E  P  L   A  A  E   T  S  L   L  K  E  E   L  L  R  473
GTGAACCGCC AGGGCATCCT CACCATCAAC TCACAGCCCA ACATCAACGG 11100
 V  N  R   Q  G  I  L   T  I  N   S  Q  P   N  I  N  G 490
GAAGCCGTCC TCCGACCCCA TCGTGGGCTG GGGCCCCAGC GGGGGCTATG 11150
  K  P  S   S  D  P   I  V  G  W   G  P  S   G  G  Y   506
TCTTCCAGAA GGTGTGGTAG GGAGGCACGG GGTGCCCCCC TCTCTTGACC 11200 | var(11200):[T:0.01]
V  F  Q  K                                             510
GGCACCCGTG GGTTCCCCAG AGCTTAGGGC AGAGCAGCCT GCCTCTCCTG 11250
GGCTCTTAAA TTTTGAATGA GCATGGATTG GAGCGGATGG GAGCTCATGC 11300
TTTAAGTCAG ATAGACCTGG CTGGGCACGG AACCCGGCCA GCACTTTGGG 11350 | REPEAT
AGGCCAAGGC GGGTGGATCA CTTGAGCCCA GGAGTTCGAG ACCAGCCTGG 11400
GCAACATGGT GAAACCCATT CTCTACAAAA AATACAAAAA TGACCGAGGC 11450 | var(11445):[T:0.01]
ATGGTGGTGT ACACCTGTAG TCCCAGGTAC TTAGGGGGCT GGGGTGAGAG 11500
GATCGCTTGA GTCCGAGAGG TTGAGGCTCC AGTAAGCCAT ATTTGTGCCT 11550 | var(11526):[C:0.04]
CTGCACTCCA GCCTGGCCCA CAAAGTGAGA CCCTGTCTCA AAAAAAAAAA 11600
AAAAAAAAAA AAAAAAAGAT TGGCTGGGCT TGGTGGCTCA TGCCTGTAAT 11650 | REPEAT
CCCAGCACTT TAGGAGGCCA AGGTGGGCAG ATCACAAGGT CAGGAGTTCG 11700
AGACCAGCCT GACAAACATG ATGAAACCCC ATCTCTACTA AAAATACAAC 11750
AATTAGCCGG GTGTGGTGGC GGGCACCTGT AGTTGCAGCT ACTTGGGAGG 11800 | var(11776):[T:0.01]
CTGAGGCAGG AGAATCGCTT GAACCCGGGA GACGGAGGTT GCAGTGAGCT 11850 | var(11816):[T:0.01]
GAGATCATGC CACTGCACTC CAGCCTGGGC AACAGAGCAA GACTCCATCT 11900
CAAAAAAAAA AAAAAAAAGA TAGAAATCAG ACCTATGGAG GCAGGTCACT 11950 | REPEAT
CGACCTCTCT GAGCCTGGTT TTCTCGTCTG TAAAATGGGA TGTAGCTTGT 12000 | var(11979):[G:0.01]
GTTCTGGGCA TGAAACCTAA CAAAGCATGT AACGTGCTTG GCACATGGTA 12050
AGAGCAGGAA GCACTCCCTG AAAGGCAGCT GCTGTTACTA TCCTGAGTTG 12100
ACACCTTTCT CCCAGGGCTG CTGGAGTTAA CATTATGTTC TGATCTAAGG 12150
CCCACGGGCC CTGGAGCAGA AAGACCTGAG TTTAAGGACC AGCTCTACTG 12200 | var(12152):[:0.01] | REPEAT | var(12156):[A:0.02]
TTTACTGTCA GAGTAGCCAA CGTGCTCAAC TTCCCTGAAC CCACTTTCCT 12250 | var(12227):[G:0.01]
CACGTGGGGC TCACTGTGCC CAGCCTCCCG TATTATCAGC ATTCTAGCAA 12300
ATGAGTTTGA GTAAACCCAG CTTAATCCCT GATAGGCACT GGTTCTAGAG 12350
GAGATGTCAA TGTCATTGTC AGCTTGCACT GGGGAGGATG GAATGTGTGG 12400
GGCCTCTCTC CCATGACTCG GCCTGTCAAA CCAGTTGCTG CTGTTCAGAA 12450
ATGGCTTCTT CGTGGAGTCT TCCCTGACTG ATTGGGAGAG GGGTGGCTGA 12500
TAGCCCTCAG ACCTGTCCAG ACTGAGAAAC TCACGTCCCC ACTCCCCTCA 12550 | var(12506):[T:0.01]
CCCTTTGCTT ATGGACGTGC CAACGCCACA GTTCATTATT CCGCCCACAT 12600 | var(12574):[A:0.01]
GGCTGCCAGT AGTCCTGATA CCTTAGGTGT CTGCGAAAGG GCGTCTGGCA 12650 | var(12609):[A:0.02] | var(12619):[C:0.01]
GGGCTGGGGT TGGTGACAGG CACCTGTCTC TCCCACAGGC CTACTTAGAG 12700 | Exon 9
                                          A   Y  L  E  514
TTTTTCACTT CCCGCGAGAC AGCGGAAGCA CTTCTGCAAG TGCTGAAGAA 12750 | var(12713):[T:0.01]
 F  F  T   S  R  E  T   A  E  A   L  L  Q   V  L  K  K 531
GTACGAGCTC CGGGTTAATT ACCACCTTGT CAATGTGAAG GTAGGCCAGG 12800
  Y  E  L   R  V  N   Y  H  L  V   N  V  K             544
CCCCAGGGTT CCCACAGAGT ACCAGGCCCT TCGTTGAGCA AACACCCAGC 12850 | var(12822):[T:0.01] | var(12825):[A:0.24] | REPEAT
ACCTAGCCTG GGCTAGGCAT TGTGCAAGAC AGAGAGATAC AGGCAGAACT 12900 | var(12884):[C:0.03]
GGGGCCCTGC TCTTAAGGAG CTCCCAGCCT AGAGTGAGGG AGGCAGATCA 12950
ATGTGTGACC ACCAGCCAGT GTAAGTGGGA AAATCAAGTT CAGGAGAGGA 13000
TGCTGTCGGG TCCAGAGGAG GGATATCTCA CCTGGGAGGC CAGGGAAGGC 13050 | var(13015):[A:0.12]
TTCTCAGAGG GTCATCTGTG GGAATCACTG AGGACAAAGA GGAGTTGGCC 13100
AACAGGAGAG AAGGGTATTC CTGGGACAGG GCAGAGGACA GGCAGAGGCA 13150
GTGAGCTGCA CCATCTGGGG AAACCGGGAA CATGAGCAGG AGGAGGCGGG 13200 | var(13175):[G:0.02] | REPEAT | var(13178):[T:0.01] | var(13198):[A:0.02]
AGTGTTAAGC AGGGGCCAGG CCCGCAGAGA TCATGGTTGT CCTGCTGGAA 13250
TTTGAGTTTT CCCTCAATGC AAGGGAAGCC TTTCTCCAGC AGTGGGGTGG 13300
CTTGGTTCCT GCTTTATTTT AGGCAAATCA CAGTGGATAG TCATACGGAT 13350
GAGAGAGATT GGGGACGGCT AGAGCCGGGG AGGCCAGTGA AGAGACCCCT 13400
GGAGTGACCC AAGCCAAACA CACTCCTGGA GGTGGGCTAG ACAAGAGGGA 13450
ATGGATCAGA GAGTGAGCAG GGGGTGCTCA AGGAGGAGAG GGGAAGTGGC 13500
CAGGACGCCT CTAGGTTCAG GCTTGTGTGG GGAGAGATAT CATTCACAGA 13550 | var(13506):[T:0.01]
TGCAGGCAGA GGAGGCCAGG AGCGGAGGCA CAGGGAGAGG GGAGTGGAGG 13600
CGCAGGGAGA GTGGAGGCCG GGAGTGGAGG CGCAGGCAGA GGGTATTGAG 13650
CCCAGACAGC CTCATTGAGT CAAGGCTGTC CAGGCAGTGG GACTCCAGTT 13700
GTTCTTGGCC CAGGTCTTAC CCCCACCCCA CATCCCCTCA GGGTGAAAAC 13750 | Exon 10
                                              G  E  N  547
ATCACCAATG CCCCTGAACT GCAGCCGAAT GCTGTCACTT GGGGCATCTT 13800
 I  T  N   A  P  E  L   Q  P  N   A  V  T   W  G  I  F 564
CCCTGGGCGA GAGATCATCC AGCCCACCGT AGTGGATCCC GTCAGCTTCA 13850
  P  G  R   E  I  I   Q  P  T  V   V  D  P   V  S  F   580
TGTTCTGGAA GGTAAAGGAG CCGGGGGCAA GCTTGCCCCG CCCACCTGGA 13900 | var(13872):[T:0.01]
M  F  W  K                                             584
AAACCGTGGG GAGGGATTGG GACCAAGTCC CAAGCGTGTG CTGAAGGCCA 13950 | var(13906):[A:0.02] | var(13908):[C:0.01]
CACTGGACCC AGCCTTCAGG GCACACCCAG CTCTGACTCA CCCATGTCAC 14000
TGCTGACGCA GGGTGTTTAT TTCTGGGCAG GGGTGGGAAG TGATACTGGC 14050 | var(14007):[T:0.07]
AGTGGGCCTT GTTCTATTCC GGGAAATGTC CTGTTGAGCA GAGCCCTTGG 14100
AGAGCCCTGT TAATCTTGCC TCTGTGTGTG TGTGCATGTG TGCGTGTGTG 14150 | var(14122):[G:0.28] | var(14144):[A:0.01]
CGGGGGTATG TGTGTGTAGG ACGAGGCCTT TGCCCTGTGG ATTGAGCGGT 14200 | Exon 11 | var(14198):[A:0.09]
                      D  E  A  F   A  L  W   I  E  R   594
GGGGAAAGCT GTATGAGGAG GAGTCCCCGT CCCGCACCAT CATCCAGTAC 14250
W  G  K  L   Y  E  E   E  S  P   S  R  T  I   I  Q  Y  611
ATCCACGACA ACTACTTCCT GGTCAACCTG GTGGACAATG ACTTCCCACT 14300
 I  H  D   N  Y  F  L   V  N  L   V  D  N   D  F  P  L 628
GGACAACTGC CTCTGGCAGG TGGTGGAAGA CACATTGGAG CTTCTCAACA 14350
  D  N  C   L  W  Q   V  V  E  D   T  L  E   L  L  N   644
GGCCCACCCA GAATGCGAGA GAAACGGAGG CTCCATGACC CTGCGTCCTG 14400 | var(14375):[T:0.01] | UTR
R  P  T  Q   N  A  R   E  T  E   A  P                  656
ACGCCCTGCG TTGGAGCCAC TCCTGTCCCG CCTTCCTCCT CCACAGTGCT 14450 | var(14429):[T:0.01]
GCTTCTCTTG GGAACTCCAC TCTCCTTCGT GTCTCTCCCA CCCCGGCCTC 14500
CACTCCCCCA CCTGACAATG GCAGCTAGAC TGGAGTGAGG CTTCCAGGCT 14550
CTTCCTGGAC CTGAGTCGGC CCCACATGGG AACCTAGTAC TCTCTGCTCT 14600
A
GCCAGGAGT CTGTGCTCTT TTGGTGGGGA GCACTTGCGT CCTGCAGAGG 14650
ACCACAGTGG GTGGCACCTC CTGAGAAGGC GAGGAGAGTG GTTGTTGCCA 14700
ACTAAGCCCT CGAACCAAGG CAGCCTCCAG AGCCAGCCTG GGACTCCCAG 14750
TGAACTTACC CTTGGAGCCC GTGCAGTACA GGCAAAACAC GCAAGGGCAT 14800 | var(14760):[A:0.37]
CAGGCACTGG TGGCATCGTA GAAGAGATGT GGCAAAGTGC TGTACCCTTC 14850
CACCTCCTAG AGGTGGGCAG CTGGGCCCCA CCTACTTGTG ACTGAAGGGG 14900
CACACCACTG CCCTGCCTGC CCACTTAGCC GTCCATGGCA CCAGCCCCCT 14950 | var(14931):[A:0.06]
GGATGGGCAT TGGGCTGACA CCTACCATGC TGCTTTTTGG CACAGTTGTC 15000
TATTCTGAGC CTTGAGAGAA AAAGTGCCCC TTAAGGGTTG AAGGCAGTCT 15050 | var(15042):[G:0.01]
GAACCCTTGT GCTTGGTGGG GCTCGTGGCC TTCCCCTTTT GCCTGGCTGT 15100
GGAGGCCTGA TGCTGCCCCG TTCCCTGTCA GAGGCTAAGA TGAGATTTGC 15150
CAGCACAGGG GCCCCAGATC TGCCTGGGCC TGTGCAGCAG CCCAGCTTCC 15200
TGGTGTATTT TTCAGGTAGG CCCTTGTCCT GCCAGCTGCC TTCCTCATCC 15250
CCTCGTCCTG TCCCAGAGGT TATCTGCCTG GCCTGGCTCC CCACGAGTCA 15300
CCTGCAAGCC CCAGGGCCTG GGGGCAGTGA CTGGCAGGTG CAGATGGGCT 15350
GTTTCGTGTA GTGGAAGAGC AGCCTGATGG CCAAGGGGGT GGACGCAATT 15400
GTGGGATGTC CTCTTTACTC CCTTCCTGGC CTCACTGGCT GGGGCAGAGG 15450
GGCAGCCGCT AGGAGAGACT GAAAGCAGCA GCTAGGACTG AGGAGTGGGT 15500 | var(15458):[A:0.01]
TTTATTGTCC TTCAGAGCTC TTCAAGCTGT CCCCTCTGTC ATCACTCCCT 15550
GGATGTGTGG GGCATGGTTC CTTCCCTGGG AAGGCTAAGT TCAGTTCTGT 15600
TTTTTATTCT ATGAGAACAA GTCACAGCTG CAGCTGGGCC CCATGCTCTG 15650
CCCCAAGCCC CCAACCCCGC GGTGCTCCGG CGGCTTCCTG TCCACTCTCG 15700 | var(15678):[T:0.04]
GGGCCCTTGG GGCCTGGCTT GCTCCAGGGT CTTGGGCTAC TGGCAGCTCC 15750
TCTCCTTGGG CTCCTGGCTG CCAGGCGTTG GTGCCACTTC TTAAAGGCCT 15800 | var(15755):[T:0.01]
GGAACCAGGG AGGAGAGGAA ATGCTATTGT TGTGG