ADAMTS13 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

GTTTGTAAAC CAGGGCAATG CAGCCTTCTG TACAAAGGTG CATTCCAGGG 50 | REPEAT
AACAAAGAGA ACAAAGAAAG AGGTCGTCTT TTGTAGAGAA CTTCCTGCCC 100
AGGTTCCCAC TTTGGTCCAC TTATGCAAAT GAGGAAGGCA CACTTGCTTA 150 | var(127):[G:0.02]
GTTCTGATTG GTTAATACTT GCTGAGTTCA GATTGGTCGA TGCAGGTCAC 200 | var(198):[G:0.01]
AGTCGATGGG TTGATTCTGG CGGCATAAAC AGGAACAGAT AGCTGTGAAA 250 | var(221):[T:0.12] | var(223):[A:0.09]
CCATCCCAGA GTTAAGTGAG AGTGGGGGCT TTCCAGGAAC GCAGAATGTG 300
TGTGTGACCC TAGTCAGCAA ATGGCTGCTA GGTCCTACTT TGAATTTAGG 350
CCCAGTTAGT AACTTGGGAT CCATCAAGAA GGATTGGCTC TTTCAGGGTT 400
CACAAAGTTA TTGGTGACCT TTTAAAGATC AATTTCAATG GTATGTGGGA 450 | REPEAT
ATTGAAGGCA AGGAAGTGGA GATAGCCACT GAAAATAATG TTTCTAAGTT 500
CTTAAAGACA GCCAGAAACA GGGCTATGGC AGGAGGACAG TGTGGGTCAA 550
GGGAAGGTTG TTGATTGTAA TCAAGAGACA CCAGAGTGTC TGGGCTTGGT 600 | REPEAT
GGCTCATGCC TGTAATCCCA GCACTTTGGG AGGCCGAGGC AGTCAGCTCA 650 | var(614):[G:0.27]
CCTGAGGTCA GGAGTTTGAG ACCAGCTTGG CCAACATGGC GAAACCCCAC 700
CTCTACTAAA AATACAAAAA CTAGCCAGGC GTGATGGCGG GTGCCTGTAA 750 | var(731):[A:0.02]
TCCCAGCCAC AAGGGAGGCT GAGGCAGGAG AATCACTTGA ACCTGGGTGG 800
CGGAGGTTGC AGTGAGCCGA GATCGTGCCA CTGCACTCCA GCCTGGGTGA 850
CACAGCAAGA CTCTGTCTCA AAAAACAAAC AAAAACCAAA AAGAGACAGG 900 | var(860):[C:0.03] | REPEAT
AGAGTCATTC ATGCTGATGG AGTGAGCCAG GTACCAGGAT CTCGATATCT 950
AAGCATGCCC CCTTCTCCAA CAGCCTCCTT ACCTTCCTGC ATGAAAGCAC 1000 | REPEAT
ACCCTTCCCT CCAGTCCCCC ATTCCTTTAT TCTGCTGTAT TTTTCTCCAT 1050
AACACTTACC ACCTTTGAAC ATACTACATA TACAACATGT GTCTGTCTAG 1100
CAACTTTGCT GTCTGGCTCT CTTCCCTAGA ATTTAAGCTG TGAGAGGCCG 1150
AGGCTGCTGT CTGCCTGGCT TGGGGCTGCT TTCCTGGTGT CTAGCACAGA 1200
GCCTGGCCTG TTTCAGGGGC TCAGTGAAAC ATTTGTTGGC TGAAGGAATG 1250 | REPEAT
AATGAATGGC TCTAGCAGAG GGGCAGAAAC TAACGATGCA GGAGGAGAGA 1300
GCTGGGAAGG GATCCAGAGC CAGGGCCTGG CAGGAAGTGT AGGTGTGTCC 1350
TCCCTGATCG CAGAGGAGGA GAGAGGCTGC ACTTTGAGGG GTGGAAAGAC 1400 | var(1365):[A:0.01]
AAGGTGAATC CCCCTGCTGG TCATCAGCTT GTGCGGCTCT GTGGGTGTAA 1450
AAGAGTGGTT TGGAGCATGT GAAGTGAGTC TTCCAGGAGA TGAAGGGGAT 1500
TGCCAGGCCG TTTGTGATGA TGCTGAGATC TGGTGCCGTG CAGCCTGCTT 1550 | var(1514):[A:0.01]
CTGCGACTCT CCTCATCAGG CGCAGGCACA GAGTAGGTGG AGAGTTGAGC 1600
CAGAACCACG ATGTCTTTGG CACAGCCTCT CATCTGTCAG ATGGGAGCGG 1650 | Exon 1 | UTR
GGACCCCGGA GAGGGAGTCA GCCGAGGTCC TGGCATTCCT TGTGAACCCC 1700 | var(1691):[C:0.04]
CGTCTGTGGG TTTCTGGTCC AGTGTCCCTT CTCCAGATTA GATGGCTTAG 1750
GCCTCCTCTA AGGGGGTGGG CGTGCACATC CGGAGAGCTG TCTGGTGTGC 1800
AGGACTGGGC TGCAGGTTAC CCTGAACTGC AACCATCTTA GAGCAAGGCC 1850
CAGCTTGCAG CAGGAGGAGC TGCAGGCCGC CCACCCTAGC CACGGCCCCT 1900 | var(1880):[T:0.01]
GCCCTGGCAG GAAGCTTCCA AGAGTAAACA CTGCCTAATC GTCCCGCCCA 1950
GTAGTGAGCA GGCCTGTCCC ATTCCATACT GACCAGATTC CCAGTCACCA 2000
AGGCCCCCTC TCACTCCGCT CCACTCCTCG GGCTGGCTCT CCTGAGGA
TG 2050
                                                    M  1
CACCAGCGTC ACCCCCGGGC AAGATGCCCT CCCCTCTGTG TGGCCGGAAT 2100 | var(2066):[T:0.06]
 H  Q  R   H  P  R  A   R  C  P   P  L  C   V  A  G  I 18
CCTTGCCTGT GGCTTTCTCC TGGGCTGCTG GGGACCCTCC CATTTCCAGC 2150
  L  A  C   G  F  L   L  G  C  W   G  P  S   H  F  Q   34
AGGTGGGCTC ATTTGCAGGA GCGGGGGTAT TCTGGGAGCC TCTGGGTGGG 2200
Q                                                      35
GTATTCTGAG CTACCTGGGG CGAGGGGAGT GCCAAATAGC TGACTACATC 2250
AGCTTTGGGG TTTGCGCTGG GCAGGGGAGT CTGTACTTGG GGCTTTGGGG 2300
GATGAAGTGT GCTCACTGAA GAGGGAGTTG GTGTCTCAGT ACGACCTGCT 2350
CATTCGGTGA AGCTGAACAG ACAGATACTA GTTTGTCCCA AACTGTGTAG 2400
GTTGCTCTTC TCTGCCTCTC CCTTCCTCTC CCTGTCTCTG ATTTCCCCCT 2450 | var(2418):[G:0.05]
CTCCTTCTTG GTTGGCCTCA CCCACCTCCT GCCTCCTGTC TCCCTCTTCA 2500
TCCATCTCTT TTTGTTCTTT TTTCTTTCTC TCTCTCTCTT TTTTTTTTTT 2550 | REPEAT
TTTTTTTTTT TAAGACATGG GGTCTTGTTA TGTTGCCCCA GCTGGTCTCA 2600
AACTCCTGGA CTCAAGTGAT CCTCCCACCT CGGTCTCCCC AAGTGTTAGG 2650 | var(2631):[T:0.01]
ATTACAGGCC AGAGCCACTA TGCCCGGCCC CATCCATCTC TTTTTGTCTT 2700
GCAGAGTTGT CTTCAGGCTT TGGAGCCACA GGCCGTGTCT TCTTACTTGA 2750 | Exon 2
     S  C   L  Q  A   L  E  P  Q   A  V  S   S  Y  L   50
GCCCTGGTGC TCCCTTAAAA GGTACTTGTC CTGGTGTCTT CTCTCCCGGG 2800
S  P  G  A   P  L  K                                   57
GGGAGTTTCT CAGGACTTTC AAGGGGTATC TCACCACTGA GTCAGTGGTC 2850
TGGGATTTTT GGTGGATCTG GAAGGAGAAG GTCAGAGAAG CTGCTGTCAA 2900
CCCTGTTAAT TAACTCTGTT ACTTCCTGCC AAGTTGATAT AAGCTGGTCT 2950
GGGTGTTCCA GCCAGGCCAG GGTTCTCACC CTAGCTTCTG TTAAATATCA 3000
CAAGGGAACG GTCACCGATT GGCTGGCCCC TCCTGCCCCA TGGCCTCTGC 3050
TGAGCTGGCT GATTTTCAGG AGCTCTTGTG GTTTCTGACC GTGGATGTAA 3100
ATATTTATTC CTTCTGTGGG AAACAAGATA GGTACTGGCT CAGGCTACCT 3150
CCTAAGGCCA TGGATTTCCT TATGATAAAG GCCTGTCCCC ATTGCCCACA 3200 | var(3185):[A:0.01]
GGCCCATGTC TGTGACCTTC TCCGGTGCGA GCCCCCTTCC CAGTAGGGCC 3250
ATTGGCAACT TGACTAATGG CTGATGGGGG CCAGAGGCAG GTGGGCTAGT 3300 | var(3280):[A:0.01]
GGTCAGGGGC AACAGGAGGG CAAGGCCCAC TTTGTGACCT GGTTCTTTGT 3350
GGTCTAGGCC AGAGGCACAC TGACCAGTGC CTGGGGCCAC GCTGGGGGCT 3400
GGATGCAGCC GACGCTGTCT GGGTATCCCA TAGCCTGGGT CCTTCCAGCG 3450 | var(3413):[T:0.19]
CTGCCGCTCC TGAAAGGCTG GGAGATCATT GCCCAGGGTC CCTGACCCTC 3500 | var(3455):[T:0.03]
TAAGGGCTCC CTTGGGAGAG GACAGTGAGG GCTGGCCTGG GCCCCTGCTT 3550
CCCAAGAGAC CACTGGGCTC CACTCGTGTT CAGTTTCCTG TCGGGGTCCA 3600
TGATGTTACT TGTGAAACAC CTGTGCCCAG AGCAGGGTCC AGGAGGCAGG 3650
GCAGGGGCTT TCCCCTTTGG GCAGAGCCAC CAGGGCAGTG GGAATCTTGT 3700
CTTGATGGGG TGACCCAAAG CACACAATAG CCCAACAGCT CCTCCTGGGC 3750 | var(3714):[G:0.04]
CCTGCCCTTT GCGTGCCTAG TCACTAATGG GGTCTGGCTC TTGGGGTGGG 3800 | var(3776):[G:0.10] | var(3795):[C:0.01]
GGTGACACGC AATGTCTTGA CTTCGGAAGG CCATCCTTCC AAGACCTGCC 3850 | var(3807):[G:0.01]
AGCCCCTCTC CTGTTAGCTT TCCACTGCTT GCTCTCTAGA ACCATCGCCC 3900 | var(3856):[T:0.03] | var(3858):[T:0.28] | var(3877):[A:0.01]
TCTGCTCTCC CTCTCCCCCT CCAGGCCGCC CTCCTTCCCC TGGCTTCCAG 3950 | var(3907):[T:0.01] | Exon 3
                          G  R   P  P  S  P   G  F  Q  66
AGGCAGAGGC AGAGGCAGAG GCGGGCTGCA GGCGGCATCC TACACCTGGA 4000
 R  Q  R   Q  R  Q  R   R  A  A   G  G  I   L  H  L  E 83
GCTGCTGGTG GCCGTGGGCC CCGATGTCTT CCAGGCTCAC CAGGAGGACA 4050
  L  L  V   A  V  G   P  D  V  F   Q  A  H   Q  E  D   99
CAGAGCGCTA TGTGCTCACC AACCTCAACA TCGTGAGTGC CCCACGCTGG 4100
T  E  R  Y   V  L  T   N  L  N   I                     110
ACTGTGCAGG TCCCCACGGC CAGGGCTGGT GACCAATGTC TGTGGGCTGG 4150
TGTATCTGGT AGTCTGAATA CAGTGGGTTA AACTCAGGTA GAATGGCTCG 4200
GGGTTCTTCC TCTTCTCCCT CCCTCCCCTG GGTGGAGGTG GGTGAGGTCC 4250
CACACCCTCT CTAGGCTCCA TGGCACATGC ACACCCTGCA GCCTCTCACT 4300
ACTCAAGTCC CTTCACCTGG GGCCACCCTC AAGCCTGGCC TCTTCCCCAG 4350
TATCCATTTG ACCCCCACAA AGCTCAGCTA AAGCAACCCT GGCAAATGGG 4400
ATACGGGCTG CTCACACTGC CCTCTGCACC CCGACCCTGC CCTCTCTCCA 4450
TTCTCTTGTC CCCCGCTCAG AGTGGCGAGG ACAGGTCACC CGTCTGAAGT 4500 | var(4464):[T:0.19]
CTAAACAGAG ACTGCTGGCA AAGGAGATGC CCACCTTCAT TTCTTGCTAG 4550
CACCTGAATC CCTGCAGCCC CCCTTCACTT GAAAGCTGGG GAAGGGCGGG 4600 | var(4586):[G:0.01]
CAGGGAAGCA CTCCCCCACT AGCCGCCGTC TCAGAAAGAC AAACAAGGCC 4650 | REPEAT
AGGCGCGGTG GCTCATGCCT ATAATCCCAG CACTTTGGGA GGCCAAGGCG 4700
GGTGGATCAC CCGAAGTCAG GAGTTCAAGA CCAGCCTGGC CAACATGGTG 4750
AAACCCCGTA GCTACTAAAA ATACAAAACT TAGCTGGGCA TGGTGGCAGG 4800
CGCCTGTAAT CTGAGAGGAG CCTGCGATCT GAGAGGAGCA GCGTTTGACC 4850
GGAATATCCG ACTCGTGACC ATCTGTGTGC TCTCATCCCC TTGCTTTGGA 4900
GTTTGTTTTC CTTGCGTTAG TTGGCCTTCC TGAGCCATGA GCTGAGGAGC 4950 | var(4913):[C:0.03]
AACAGAGGCA CGGCTGACTG TGCAGCACAT TTTAGGAGCC CCCCGCCCCG 5000
CCCGGTTCCC ACACATGCTG GTGGAGTAGC CTCTCCAGCT CTTCACACTC 5050
CGGGGGCCCC TGGGAGTCAG CAGCTGCCTG GGGCTGGCAA TGCCCACCCG 5100 | var(5091):[C:0.04]
ACGGGTTACC TCTCTCATCT GCCCTTGCAC AGGGGGCAGA ACTGCTTCGG 5150 | Exon 4
                                    G  A  E   L  L  R  116
GACCCGTCCC TGGGGGCTCA GTTTCGGGTG CACCTGGTGA AGATGGTCAT 5200 | var(5156):[A:0.01]
 D  P  S   L  G  A  Q   F  R  V   H  L  V   K  M  V  I 133
TCTGACAGAG CCTGAGGTAG GCATGGAGCT GGAACTCAGC ACACCATACA 5250
  L  T  E   P  E                                       138
GAGCGGGAAG CCCAAGTCAT CGCATCTCCA TCCTCTTTAA CCTCTTGTCC 5300 | var(5278):[T:0.04]
CGGATGCCCC AAGCAGCATG GATCACAGAA TGCATTCAGC CAGACAGACC 5350 | REPEAT
AGCTGCCCTC CCAGCTCTAC CCAGCACTCA GCACAGGCTG CCTGACTACT 5400
TCTCTGAGCC TCAGTTGTCT CATCCCTAAC ACGGGCTAGT CATAGGGTTG 5450
TTAGGAGGAC TAACTGGGAA ACAAACCGAC CGCAGTCAGC ACCGTGCCTG 5500
GTTGGGGTGT CCTAAATGCA GGCTTTGCTG TGGGTCCGCA GGGTGCCCCA 5550 | Exon 5 | var(5547):[T:0.44]
                                              G  A  P  141
AATATCACAG CCAACCTCAC CTCGTCCCTG CTGAGCGTCT GTGGGTGGAG 5600
 N  I  T   A  N  L  T   S  S  L   L  S  V   C  G  W  S 158
CCAGACCATC AACCCTGAGG ACGACACGGA TCCTGGCCAT GCTGACCTGG 5650
  Q  T  I   N  P  E   D  D  T  D   P  G  H   A  D  L   174
TCCTCTATAT CACTAGGTAG CCGAGCTTTC TGATGGGTGC TGGCCAGCCA 5700
V  L  Y  I   T  R                                      180
GCCTGGGAAG GCTGCTCCCT CAGCCTCCTG CCCTCTGCAA AGGTGACCCC 5750
AGGGCAGGCA CGTGCCTTGG CACCACCCAA GTGACTGTTT TCTCTCACCG 5800 | var(5770):[A:0.01]
AGGTTTGACC TGGAGTTGCC TGATGGTAAC CGGCAGGTGC GGGGCGTCAC 5850 | Exon 6 | var(5845):[T:0.01]
    F  D   L  E  L  P   D  G  N   R  Q  V   R  G  V  T 196
CCAGCTGGGC GGTGCCTGCT CCCCAACCTG GAGCTGCCTC ATTACCGAGG 5900
  Q  L  G   G  A  C   S  P  T  W   S  C  L   I  T  E   212
ACACTGGCTT CGACCTGGGA GTCACCATTG CCCATGAGAT TGGGCACAGG 5950
D  T  G  F   D  L  G   V  T  I   A  H  E  I   G  H  S  229
TATGTAGCCC CACCAGCTGT CCCCAGGATC TGGCAAGGAG CTGACCTGGG 6000 | var(5953):[G:0.01]
TACCCAGGGT GGAGGTGGTC TTGGCAAGCA GTGGGTCCTT GTAGAGTTTC 6050 | var(6023):[A:0.02]
TCCAGAGGAG CCTGTACCCC TCACCCCGAC AGACTCAGGT GTGAGGACAG 6100 | var(6078):[A:0.20]
GGGAACCTGA TACTGTTTGA TTAAAAGAAC TTTTTTTCCA AAAGACGAGC 6150 | var(6105):[T:0.18] | REPEAT
AAGACACCTT TAGCAGGTAG AAAATAACTT CTGTAGAAAA TTCAGGTAAA 6200
GAAAGAGCAG GCTGTAAAAA TTATCTCAAA TCCCACCATT TAGAGATAAT 6250
GTCTCTTCAC ATTTTGTATT TAATTTCAGT CTTTTCTTTA CATACACACA 6300
CATATTTCTT ATTTGCAAAA TTGGGATTTA GTTTGGATCC CTGAAAAAAA 6350
GGAAAATTGT GATTATGCTG TGCATTGCTT TGTTACCTGC TATTTCTTTT 6400 | REPEAT
TCTTTTCTTT TCTTTTTTTT TTTTGAGATG AAGTTTCGCT CTTGTTGCCC 6450 | var(6413):[:0.23]
AGGCTGGAGG GCAATGACGT GATCTCAGCT CATTGCAACC TCCACCTCCT 6500
GGGTGCAAGT GATTCTCCCA CCTCAGCCTC CCAAGTAGCT GGGATTACAG 6550 | var(6505):[T:0.19]
GCATGTGCCA CCACGCCCAG CTAATTTTGT ATTTTTAGTA GAGACAGGGT 6600
TTCTCCATGT TGGTCAGGCT GGTCTCGAAC TCCCAACCTC AGGTGATCCA 6650
CCTGCCTCGG TCTCCCACAG TGCTGGGATT ACAGGCGTGA GCCACTGCAT 6700 | var(6659):[A:0.01]
CCAGCCTTTC TTTTTTCTTC CTAGGGTAAG TGCAGGATTT ACCTGTTCTT 6750 | REPEAT
TATGTAATAA TATATCCCAA ACATTATCCC AGGTATCTTA GAGGTGTGCA 6800
CCGTAATTTA TTTAATCAGT CCCCTCTTCT TGGATGTCTA GGTTGTCTGA 6850
ACACGTCTTC CTGTTGTGAA TGTTATGCAT TCTTGTGGGC AAACCTTCAC 6900
TCTTACCTAT AACCATTTAC CTAGAGTGAT GGGTTTCTTT TCATTTCTTT 6950 | var(6926):[A:0.03]
AGTTTTTTAA GTATGAAAAT AATACCCAAT TGTTGTAAAA ATTCAAACAG 7000
TGCAGAGATT TCTAAAGTAA AAAGTGAATT TCCACATTCC TTGCCCACCA 7050
ACCCCCACCC GACCCCTTTC AACCCCTCTG AGCCTGGGAG GGTTGAGGCA 7100
GGGTTCCTGG GTGTGGGACA AGGCAGGGCT CCTTCTCCCT CAGAGGGAGC 7150
ATAGTTCCCT TCTGCTCCTG TGATGCAGAA GACGTGAGCC CCCAAACTGG 7200 | REPEAT
GGCTTAGCCT GGGAGGGTTC TTGGCTTCAC CGAGGAAAGA ATTCAAGAGG 7250 | var(7214):[G:0.16]
GAGCAGGTGG TGTTAGACAG CAACTTTGAT TGATGTGGCA GTGGGCAGAG 7300
TGTACAGCCC TGTGACTGTA TACAGCACAG CATAGCCCCT TTTGAAGCCA 7350
GGCTACCCCA TAGACACTGT GCCCAAAAGA GCAGCTCAAA GGCAGGGCTG 7400
CAGTCCTAGT TAATACCCAC TTCTAATTAT ATGCAAATTA AGGGGCCAGA 7450 | var(7412):[:0.47]
TTATGCAGAA ATTTCTAGAA AAAGGGCAGT AACTTCTAGG TTTTCGTCAT 7500 | var(7452):[G:0.01]
GGAAAAGGGG CAGTAACTTC TGGGTTTTGC CATGGCAATG GCAAACTGGT 7550 | var(7550):[C:0.23]
A
TGGCACACT GGTGGGCGTG TCTTATGGAA AGGGGCTTCC CACCCCTCCC 7600
TGTTTTAGCT AGTCCTCTGG TCCAGTGTCC AAGCGGGGCC TCCAGAGTGG 7650
AGTCCACCTC CTACCTCACC GGTGCCTGGC CTCTCCCACC CCATTAGGAG 7700 | var(7664):[T:0.01]
TCCTCCATCA GTTCCGCTTT GGGTAAAGCA AGCTCTGTTG TGACAGTTTG 7750
GAAACGGTTC ACCTTCCTGG CCTAGGAATG CAAACAATGG CCAAGGGCAA 7800 | var(7792):[G:0.05]
GCACGTTTTA ACTGAACTTT AAAATCGTGC TTTCCTCACA GTAGGTGAAT 7850
TTCACGCTCA ACACATCCAT GTAAACAGTC CCCAGAGCAG CCCTTCAAGG 7900 | var(7857):[G:0.01]
CCCCGGCCAG TCCCCACCTC CCCACAGACT CCTAACACCA TGATTTAATG 7950
TGGCTTGCAC ATTTTTAAAG GCTTTTGATA TTTATTAGCA AAAGATGCGA 8000
GAGCCACCCT GCTGGGCTAG CGCTCCCTTC TGGGGGAAAC TGAGGCAGGG 8050
CGCACGCGAC CCTCTCCACT GCGCCCAGTT AGCAGATGGC GGCGTCAGGG 8100
GTCGACCCGG GTCGGAAAAC TCGCTGGCGC TGCGGCACTA GGGCGCCGGG 8150
CCGCTGACTC GCCGACCCCC CGTCCCGCCC CCACCCCCGC CCCCGCCCCT 8200 | var(8166):[:0.98]
GCCGGCCGCC TTAGCGCAAC TCCCCGCCCC CCGACCAGCT TCGGCCTGGA 8250 | Exon 7
                                            F  G  L  E 233
GCACGACGGC GCGCCCGGCA GCGGCTGCGG CCCCAGCGGA CACGTGATGG 8300
  H  D  G   A  P  G   S  G  C  G   P  S  G   H  V  M   249
CTTCGGACGG CGCCGCGCCC CGCGCCGGCC TCGCCTGGTC CCCCTGCAGC 8350
A  S  D  G   A  A  P   R  A  G   L  A  W  S   P  C  S  266
CGCCGGCAGC TGCTGAGCCT GCTCAGGTAG CGGCCGCCCC GTGGGAGGGG 8400
 R  R  Q   L  L  S  L   L  S                           275
CGCGCGAGCC TCCAGCCAGC CCGCTGGGCC GCCAGCGCCA CCTCTCTCTA 8450
CGTCCGTCCC CACTCCGCAT TCAGCCCTCC TTCCTGTCCC ACCCCTCCGT 8500
CCAACCCACC CCTCCGTCCA ACCCCGCGCC CACCGCTCCG TCCGTGGAGG 8550
GGCGGGCGCG CGAGCCTCCA GCCAGCCCGC TGGGCCGCCC GCGCCACCCC 8600
TCCCTACGTC CGTCCCCACC TCTCCCTACG TCCGTCCCCA CTCCGCATTC 8650
AGCCCTCCTT CCTGTCCTAC CTCTCCATCC TGACCCACTC CTCCGTCCAA 8700 | NOT SCANNED
CCCCGCGCCC ACAGCTCCGT CCCATCCCGC TGCGCCCACT CCTGCGCCCA 8750
CCCCTCCGTC CCAACCCCTG CACCCACCCC CCCGTCCCAC CCACCTGCCC 8800
CACCCCCTGC ACCTCCCCCC GTGCTGTCCC ACTCTGCGGC CACCCTTCTG 8850
TCCAACCCCT GCGCCCACCG CTCCGTTCCA CCCCCTCCCT GCGCCCACCC 8900
CTGCGTCCTC CCTCGCCCCC TTGCGCCCAC ACTTTCGTTC CAGCCAATCT 8950
GGGCACGCAC CCCTCCGTCC ATCCCCATCC CGCCCCTTGA CTCCACATAC 9000
ACTCCCTGGT TCTCTCCCAC TTGCCTACAC CCACCCCTGC ATCCTACCCT 9050
CCTCCATCCA CCCCTCCATC TCAGCCCCCT GCACCCACCC CGTTCCTGGG 9100
CCCACCCTGT TCCTGCACCC ACCCCCTCAC TTCACCCCCT TACCCTTCGT 9150
CTGCCTCCAC CCGCCCCTAC CCCTCCGTCC ACTCTCCACG CTCCATCAGT 9200
CCCACACCCC TATCTCCCCC ACCCGCGTAC ATGTATCCCT GCGTCCCCTT 9250
CCCGCCGACC GCACCGCTCC CGGGCCTAAC CTGCATCTGC TCCATCCCAC 9300
TCAGACCCGT CCCTCCGTCG CCGCTCCCTC TGCTGGCCAC CCACCTCTGC 9350
GCCGGCAGGA GCCTTAGTCT TGGTCCCAGC CAAGAGCCGG CTCCTGGTGG 9400 | var(9374):[C:0.07]
GGGGCGCGGG CCGAGAACTC CTGTTCCCAC TCACAAAAGG CCACGCTTCC 9450
AAACGCTTCC ATCCTCGTGC CCACTCCTCC GTCCCGCCTC CTCCCGGTGT 9500
ACACCCCGGG ACTGAGCCGG GCCTGAGCCG GGCCTTGTCG CAGCGCAGGA 9550 | Exon 8
                                                 A  G  277
CGGGCGCGCT GCGTGTGGGA CCCGCCGCGG CCTCAACCCG GGTCCGCGGG 9600
 R  A  R   C  V  W  D   P  P  R   P  Q  P   G  S  A  G 294
GCACCCGCCG GATGCGCAGC CTGGCCTCTA CTACAGCGCC AACGAGCAGT 9650
  H  P  P   D  A  Q   P  G  L  Y   Y  S  A   N  E  Q   310
GCCGCGTGGC CTTCGGCCCC AAGGCTGTCG CCTGCACCTT CGCCAGGGAG 9700 | var(9655):[T:0.02]
C  R  V  A   F  G  P   K  A  V   A  C  T  F   A  R  E  327
CACCTGGTGA GTCTGCCGGC GGTGGCCTGG GATTGGCTGT GAGGTCCCTC 9750 | var(9717):[T:0.04]
 H  L                                                  329
CGCATCACCC AGCTCACGTC CCCCCAAACG TGCATGGTGA GAACCTGCTG 9800 | var(9775):[G:0.01]
GGTGCCGTGC TAGGCTGAGG TACTAAGCCA GGGCGGCTTA GTTTAATGCT 9850 | REPEAT
GTCTGTGCCC TCTAGAAATT ATTTAAAATG TTTGAACAAA AGCTCCAACA 9900
TTTTTGTTTG ACTGGGCCCC ACAAATTATG TAGCTAGTCC TGGGAGGGCC 9950 | var(9943):[C:0.02]
CCTGTGCCCA AGGACTCCTG GCTGAGTGAG GACACCAATC TTAAACAGTT 10000
ACCAAGGACT TCCCCATCTA TTGTGGCTGG AGTCAGACTG GAGGGCTTCC 10050 | REPEAT | var(10019):[G:0.03]
TGGAGGAAGT GGCCTCTAAA CTGAACCCAC AGCAGAAGTG GGGCTGGTAG 10100 | NOT SCANNED
GGGGAGGGGA GA
TGAAGGAG AGCAGGCACC CCAAAAGACA GACTTCCTCG 10150
CAGGATTGCA TAGGACATTC ATGGGCTCCA GGCACTTTTG CCTTGATGGG 10200 | REPEAT
CCCCTTCCTC CACAAAAAAA TTGAGAATTA TGTTTTA
ATA TTCTTATACA 10250
ATGTATAAAG TTTTATGTGT TACTATAAAT ACAAGTCTTT TTTTTTCCTT 10300 | REPEAT
TTTTTTTTTT TTTTTGAGAC AGAGTCTCCC TCTCTGCTCA CTGCAGGCTC 10350
CGCCTGCCAG ATTCACACCA TTCTCCTGCC TCAGCCTCCC GAGTAGCTGG 10400
GACTACAGGC GCCCGCCACC ACGCCTGGCT AATTTTTTGT ATTTTTAGTA 10450
GAGACGGGGT TTCACTGTGT TAGCCAGGAT GGTCTCGATC TCCTGACCTC 10500
GTGATCCGCC CGCCCTGGCC TCACAAAGTG CTGGGATTAC AGGCATGAGC 10550
CACAGCGCCC CGCC
AAGTCT TTTTTTTTAA ATTATTTTGA GACAGGGCCT 10600 | REPEAT
CGTTCTGTTG CCCAGGGTGG AGTGCAGTAG CACAATCATA GCTCACTGTT 10650
GCCTCAACTT CTTGGGCACA AACGATCCTC CCACCTCGGC CTTGGAGTAG 10700
CTGGGACTAC AGGCACATGC CACAATGCCC AGCTAATTTT TAAATTTTTT 10750
GTAGAGATGG GGTCTCCCTT TGTTACCCAG GCTTGTCTAG GACTCCTGGC 10800
TTCAAGCCAT CCTCCCACCT CGGCGTCCCA AAGCACTGGG ATTACAGACA 10850
TGAGCCACCA C
CCACGCCTG ATCAGCAAAT CTATTAATAT TATATATTAC 10900 | REPEAT
AACATTAATT TTGACCTGGA AGTTCATTTT TTCATTTTTT TTTTTTTTTT 10950 | REPEAT
GAGACAGAGT CTCACTCTGT CACCCAGGCT GGAGTGCAGT GGCACAGTCT 11000
TGGCTTACTG CAACCTCCGC CTCCCAGGTT CAAGTGATTC CCGGGCCTAC 11050
GCCTCCCGAG TAGCTGGGAC TACAGGCATG TGCCACCATG CCCAGCTAAG 11100
TTTTGTATTT TTTAGTAGAG ACAGGGTTTC ATCATGTTGG CCGGGCTGGT 11150
CTCGAATTCT GACCTCAGGT GATCCGCCCG CCTTGGCCTC CCAAAGTGCT 11200
GGGATTACAG GATAAGCCAC CACACCCAGC CTAGTTCATT TTTTTCTTCT 11250 | REPEAT
GATTTTATTT TATTTATTTA TTTATTTTGA GACGGAGTCT CGCTCTGTCA 11300 | REPEAT
CCCAGGCTGG AATGCAGTGG CTCAATCTTG GCTCACTGCA AGCTCTGCCT 11350
TCAGGGTTCA AGCCATTCTC CTGCATCAGC CTCCCGAATA GCTGGGACTA 11400
CAGGTGCCTG CCACCACACC CGGCTAATTT TTTGTATTTT TAGTAGAGAT 11450
GGGGTTTCAC TGTGTTAGCC AGGATGGTCT CGCTCTCCTG ACCTCATGAT 11500
TTGCCCGCCT CGGCCTTCCA AATTGCTGGG ATTACAGGCG TGAGCCACAG 11550
TGCCCGGCCT TTTTCCTTCT GATTTTAAAA GAAATTAGGC CAGGTGTGGT 11600 | REPEAT | REPEAT
GGCTCACGCC TGTAATCCCA GCACTTTGGG AAGCCAAGGC AGGCGGATCA 11650
CCTGAGGTCG GGAGTTTGAG ACCAGCCTGA CCAACATGGA GAAATGCCAT 11700
CTGTGCTAAA AATACAAAAA ATTAGCCGGG CGTGGTGGCG CATGCCTGTA 11750
ATCCCAGCTA CTCGGAAGGC TGAGGTAGGA GAATTGCTTG AACCCAGGAG 11800
GCAGAGGTTG AGGTGAGCCA AGATCGCGCC ATTGCCCTCC AGCCTGGGCA 11850
ACAAGAGCGA AACTGTCTCA AAAAAAAACA AGAAAGAAAA AGAAATTAA
A 11900 | REPEAT
ACATTTGCCT CTTGAGCTTC AAGTCAGTGA CAAGTTAAGA AGGAAAAAAA 11950
GAAAAAAGAC ACAAAAAACA CATTTCCATG GGCCCCCAAA AGTGTGACAG 12000
GACCTGGTCA TGGTCCCGGT TCCCCATCGA TGGGTCAGTC ATGCCTTGTC 12050
CTCTGAGGGC ACCAGTGCCC ACGGTGCAGA GTGTTGGCTG TGTCAGTGTG 12100
TCCTGCAGTC TGGGAGGGAC AGTTAAGGTT GGACACTGGC CTGGAAGGCC 12150
CTGGTGGCCC CTGAGCTCGC CACCCACCTG TCCACCCTCC TAGGATATGT 12200 | Exon 9
                                                D  M   331
GCCAGGCCCT CTCCTGCCAC ACAGACCCGC TGGACCAAAG CAGCTGCAGC 12250
C  Q  A  L   S  C  H   T  D  P   L  D  Q  S   S  C  S  348
CGCCTCCTCG TTCCTCTCCT GGATGGGACA GAATGTGGCG TGGAGAAGGT 12300
 R  L  L   V  P  L  L   D  G  T   E  C  G   V  E  K    364
CAGAGCCAAG AGTGAATGAG TGGGCTCCTG TGAGCACGTG CACGTGGGTG 12350
CCTCCAGCCA GGCCGCCCTA TTCCTAGGTC AGGAGGCAGG ACCAGTATGG 12400 | var(12365):[A:0.01]
GGCAGAGAGT CTTGGAGTTG GCCTTGGGGA CTGTCCTTTG GGTTGGTGGT 12450
CTGACCTCTT TCCTTTAGCA TTTGCTCCCA TGCAGAATGG GAATGTGGGC 12500
TGCCTGTTGT ATGGGGGGTG CCCATGGGTG TGGGGTTCCT TTGGGTGGGG 12550
TCCCTGTGTG AAGGTCCTTG TGGATATGGG GTGTCTCGGG GGGGATCCCT 12600 | var(12581):[A:0.04] | var(12588):[:0.36] | var(12597):[A:0.01]
GTGTAAGGGG TCCCTGTGAG TGTAGAGTCC CTGTGGGTGG GGTCCTTATG 12650
TGTGTGTTGG AGGATCCCTG TGTGTTGAGG GGTCCCTGGG GGGTTCTGTG 12700
TGTATGTTGG GGGGTCTCTG GGTGTTGGAG GATCCCTGTG GGTCTGGGGG 12750
ATCCATGTGG CTGGGGTACC TGTGTGTTGG GGGGTCTCTG TGTGTGTTGG 12800
AGATCCCTGT GTGTTGGGGG ATCCCTATGG GTGAGTTCCT TGTGTGTGTT 12850
TGGGGGTCGC TGTGGGTGGG GTCCCTGTGT GTGTTGGGGA TCCCTGAGGA 12900
TGTTGGGGGA CTCTCTGTGT GTGTTGGGAG TCCTGTGGTG GGGTCACTGT 12950
GGGATGGGAG ATGAAGCCAT CCTTGCCTTG CAGTGGTGCT CCAAGGGTCG 13000 | Exon 10
                                     W  C   S  K  G  R 370
CTGCCGCTCC CTGGTGGAGC TGACCCCCAT AGCAGCAGTG CATGGGCGCT 13050
  C  R  S   L  V  E   L  T  P  I   A  A  V   H  G  R   386
GGTCTAGCTG GGGTCCCCGA AGTCCTTGCT CCCGCTCCTG CGGAGGAGGT 13100
W  S  S  W   G  P  R   S  P  C   S  R  S  C   G  G  G  403
GTGGTCACCA GGAGGCGGCA GTGCAACAAC CCCAGGTACC GCAGGGAGGG 13150
 V  V  T   R  R  R  Q   C  N  N   P  R                 415
TGCTTTTCTG TCAGGGAGTG TGGCCATACC ATAGTCCCTA GTTGAAGGCA 13200
GTGGTCACCC TGCTGTCTCA CCCTCCTGTC TGCTGGGCAT TTTCAGACCT 13250 | var(13215):[C:0.38] | var(13244):[T:0.01] | Exon 11
                                                    P  416
GCCTTTGGGG GGCGTGCATG TGTTGGTGCT GACCTCCAGG CCGAGATGTG 13300
 A  F  G   G  R  A  C   V  G  A   D  L  Q   A  E  M  C 433
CAACACTCAG GTAGGCCTGC TTCCTGGGGT AGGAGGGGGC AGCTGGTGGC 13350
  N  T  Q                                              436
ACCGGGCCCT GGGGGAGCCA AAGTGACCAT CTGTGGTTCA CACCAGGACA 13400
CATTTGAGAA GGACATTGGG GCCAGGTGAG GTGGCTTATG CCTGTAATCC 13450 | REPEAT
CAGCACTTTG GGAGGCCAAG GCAGGTGGAT CACCTGAGGT CAGGGGTTCA 13500
AGACCAGCCT GGCCAACATG GTGAAATCTC GTCTCTACAG AAAATACAAA 13550
AATTAGCCGG GCGTGGTGGT GGGCGCCTGT AGTCCCAGCT ACTCGGGAAG 13600
CTGAGGCAGG AGAATCACTT GAACCCAGGA GGTAGAGCTT GCAGTGAGCC 13650
GAGATTGGGC CATTGCACTC CAGCCTGGGC GACAGAGTGA GACTCTGTCT 13700
CAAAAAAAAA ATAAAAATTA AAAAAGAGAG AGAAGGACAT TGGGACCCCA 13750 | NOT SCANNED
GTTCATAAAC CAGGCCAGTC CTGCTGATGC CCACAGAGCC CCTGAAGCGT 13800
CCCGCCTCCC TCCCTGAGTG CCACTTTGCC CTCCAGAGCG CATCTCTGCA 13850
GGGAGAACCT CCCCACTAGG AATACAGTGC GCTGCTGCAT GCCTGCAAAG 13900
GAATTTTTTA AATATTATTT TTATTTTTTT AGACAGAGTC TCTCCCTGTC 13950 | REPEAT
ACCCAGACTG GAGTGCAGTG GTGCTATCTC AGCTCACTGC AACCTCTGCC 14000
TCCCAGGTTC AAGCGATTCT CCTGCCTCAG TCTCCTGAGT AGCTGGGACT 14050
ACAGGTGCCC GCCACCACGC CCGGCTAATT TTTTGTATTT TTAGTAGAGG 14100
AGGGGTTTCA CCGTGTTAGC CAGGATGGCC TTGATCTCCT GACCTCGTGA 14150
TCCGCCTGCC TCGGCCTCCC AAAGTGCTGG GATTACAGGT GTCACTGCGC 14200
CTGGCC
GAAG GAGTCTTTTA TTTATAAATT GAGGTGACAT TCATGTAGCA 14250 | REPEAT
TGAAATCAAG CATTTTAAAG TGGCAACTCA GTGGCCTTTA GTACACTCAC 14300
AAGGTTGGGC AAGTACTGCC TCTGTCTAGT TTCAGAACGT TTCCAGTACT 14350
CTGGAGTACT CTGGAGTGAA CCCCATATGG TAGGCTGTCA CTCCCCATTT 14400
CTCCTCCGCC ACTCAGCGGC CATTGGTTTC CCTTCTGTCT CTGTGGATTG 14450
ACCTGTTCTA GACATGCCAC GTACCTGAGG CCAGACAACA GGTGTGCTTC 14500
CTGCCTGCCT TCCTCCCCCA GCGGCACGTC CCCAAGGCTC ACCTGTGTTG 14550
TAGCCTGTGT CAGCGCCTCA TTCCTCTTTC TGGCTGAATC ATATTCCACT 14600
GCAGGGATAG ACCACATTTT CATCCAGTCG TCTGCTGATG GACATCTGAG 14650
GTGTTTTCAC CTTTTGGCTC CTGTGAACAG AGCCGCTGCC AATGTGCTTG 14700
TACATGTTTG AATCCCTGTT TTCAATTCTT TTGGCAGTAT GCTGAAGAGC 14750
GGAGTTACTG GATCGTATGG GAATTGTATG TTTGACTTTT TTTTTTCTTT 14800 | REPEAT
TTTTTTTTTT TGAGACAGAG TCTTGCTCTG TCGCCAGGCT GGAGTGCAGT 14850
GGTGCAATCT CAGCTCCCTG CAACCTTCGC CTCCTGGGTT CAAGCGATTC 14900
CCCTGCCTCA CCTTCCGGAG TAGCTGGGAT TACAGGCACG CGCCACCATG 14950
CCTGGCTAAT TTTTTGTATT TTTAGTAGAG ATGGAGTTTC CACCACGTCA 15000
GCCAGGATGG TCTGGATCTC CTGACCTCAG GTGATCTGCC CGCCTTGGCC 15050
TCCCAAACTG TTGGGATTAC AGGCATGAGC CACCGCTCCC GGCCTATGTT 15100 | REPEAT
TGACTTTTTT TTTTTCTTAT TTTTTTCTTT CTTTCTTTAT TTTTTTTTTT 15150 | REPEAT
TTAGAGATGG AGTCTCGCTC TGTCGCCCAA GCTGGAGTGC GGTGGCGCGA 15200
TCTCGGCTCA CTCTAAGCTC CGCCTCCCAG GTTCACCCCA TTCTCCTGCC 15250
TCAGCTTCCC GAATAGCTGG GACTACAGAC GCCCGCCACC ACGCCCGGCT 15300
AATTTTTTTT TGTATTTTTA GTAGAGGCGG GGTTTCACCA TGTTAGCCGG 15350
GATGGTCTTG ATCTCCTGAC CTCGTGATCT GCCTGCCTCG GCCTCCCAAA 15400
GGGCTGAGAT CACAGGCGTG AGCCACCGCG CCCAGCATGT TTGGCTTTTA 15450 | REPEAT
AAGAAACTGC CAAACCGTTT TCCACAGTGC CTGAACTGTT TCACATTCCC 15500
ACCAGCATTG CGCCAGGGTT CCAGTTTCCC CACATCCGCT GCAGCACTTG 15550
CTGTTTTCTG TTGTT
GTTTT TTCTTTTCTC TTCTTTTTTT TTTTTTTTTT 15600 | REPEAT
TTTAATAGAG ATGGGGTTTT GTCATGTTGG CCAGGCTGGT CTTGAACTCC 15650
GACCCCAGGT GATCCGCCCA CCTTAGCCTC CCAAAGTGCT GGGATTACAC 15700
GTGTGAGCCA TGGCGCCCGG CC
TGTTTTCT GTTTTTTGAT TTTGGCCATC 15750
TCGGTGGTAT GAAATGGTAG AAAGATTCTT TTTACATTGA GTTAAATTCT 15800
ATCTCCTGCT TCGATGGCCC TGGGTGTGGG TTTGTCCCTG GCTGTATTAC 15850
AGTTCTGCAT GTGGTGAGAC CCTCCCTTTC CTCCTTCTCC AAATGGACCA 15900
CCAAGACCTC CCCAGACCGT GAGGGGAGGG TCTTTGGCTG GAGCACAGGG 15950
TGGTGGGATT TCGTGGAGGC AGTGTGGTCA GTGTGGCTGT CCAGGGAGTC 16000 | var(15978):[:0.19]
AACTCCGGTT ATCTTCTGTC AGCCCATAAA AGTCCAAGAC GCCTGCCTGA 16050
GTGCAGAGGC TTCGGTGGTG AGGTCTTTGC TCCATGCTTT GGTTACCTGC 16100
CTCTAGGTGC ACTACCTAAA GAATACACAT CCCCGTCCCT GTTTTATTGA 16150
GTTCAGGCCT TGGAAGCAGA GGCTCTGAGC GTAATGCTCT TTCCTGGCTT 16200
TCTTCTTCGT TGCTGCCCTG TGTTCTTTAC GGATTCCCCG GGGTTTTCCC 16250 | var(16228):[C:0.03] | var(16231):[A:0.03]
ATCAATAGAG AGAGGCAGGC ACTTTTGTCA CCCCAGTTTA CAGAGCAGGG 16300 | REPEAT
AACCGAGGCA CGGCCTGGAG CTGAGGCCAC ACCCACATCT TGATCCTGTA 16350 | var(16304):[T:0.02]
CTGTAGGGTG CCATGTAGTC TCCCAGTGAC AACACCCGCC CCCCGCCCCA 16400 | var(16387):[T:0.01]
CCGCCATCCC CCTCCTCTGC CTCCTCCTGG CCAGGCCTGC GAGAAGACCC 16450 | Exon 12
                                      A  C   E  K  T   441
AGCTGGAGTT CATGTCGCAA CAGTGCGCCA GGACCGACGG CCAGCCGCTG 16500 | var(16468):[G:0.19] | var(16494):[T:0.02] | var(16496):[T:0.01]
Q  L  E  F   M  S  Q   Q  C  A   R  T  D  G   Q  P  L  458
CGCTCCTCCC CTGGCGGCGC CTCCTTCTAC CACTGGGGTG CTGCTGTACC 16550
 R  S  S   P  G  G  A   S  F  Y   H  W  G   A  A  V  P 475
ACACAGCCAA GGTGGGGCCT GCGGAGTGTG GGGTTGGGGG AGGAGCCAGC 16600
  H  S  Q                                              478
CCTGGAGACC CTCGGACAGG GCAGAGTCAT AGGGGGGTTG GCCTACTATC 16650
CCTCCAGCAC TGGGCAAAGT GGTTCAGGCT CTGGCATCCC ACAGACCATG 16700 | var(16694):[A:0.01]
GATGACATAG TGGCCAGGCC TCGCTGGTAG ATCAGGCACT GACATCCCAT 16750 | REPEAT
CTCTGAGTCT CAATTTCCCA TCTGTGAAAT GGAGATAATA GCAGTAGGTC 16800
CCTCCCTGGG CGCTACAAGG ATTCAGGGAG ATAATCGGAA AATGCCAAGT 16850
GTGTTCCTTG GTTCATGATA CTTTTTTTGT GAGACAGAGT CTTGCTCTGT 16900 | REPEAT
CGCCCAGGCT GGAGTGCAGG GGCGTAATCT CAGCTCACTG TAACCTCCGC 16950 | var(16920):[T:0.19] | var(16936):[T:0.16]
CTCTGGGATT CAAGGGATTC TTGCCCCTCA GCCTCTCGAA TAGCTGGGAC 17000
TACAGGCTTG CACTACCATG CCGGCTAATT TTTTTGTATT TTTAGTAGAG 17050
ATGGGGTTTC GCCATGTTGG CTAGGCTGGT TTCAAACTCC TGACGTCAGG 17100 | var(17083):[T:0.07]
TGATCCGCCT GCCTCGGCTT CCCAAAGTTC TGGGATTACA GGCATGAACC 17150
ATTGCGCCCA GCCTTGGTTC CTAATTCAAT ACCATTAATT ATTAGATTAG 17200 | var(17169):[C:0.19]
ATTAGGATCG TGATTAGGAT TATTGCCTTA GGAGGTGGGA TGTGGGGAAG 17250 | var(17248):[G:0.01]
ATAGAAACCC TTGCCCCAGA TGCAAAGGAT GAAGCTGGGT GGGGGCTGGG 17300
GGACTTGCCC CTCCTGCTCG GTTCAGGACA CCCTTTTTCA CTCTGCCCTC 17350
CCAGGGGATG CTCTGTGCAG ACACATGTGC CGGGCCATTG GCGAGAGCTT 17400 | Exon 13
    G  D   A  L  C  R   H  M  C   R  A  I   G  E  S  F 494
CATCATGAAG CGTGGAGACA GCTTCCTCGA TGGGACCCGG TGTATGCCAA 17450
  I  M  K   R  G  D   S  F  L  D   G  T  R   C  M  P   510
GTGGCCCCCG GGAGGACGGG ACCCTGAGCC TGTGTGTGTC GGGCAGCTGC 17500
S  G  P  R   E  D  G   T  L  S   L  C  V  S   G  S  C  527
AGGGTAGGCG TGTGTGGACA TTGGCGATGG CCCTGGGGCC TACCTGTCCT 17550
 R                                                     528
ATCGGAAGGC TCCTGGGGGC AGGTTGGTGG GTGCTGGCCC TGATGGAGCT 17600
GCAGTGCCCT CTGCAGGGGA GTGGTGCTGG GGAAAAGGAT CTGGACTTGG 17650 | var(17609):[G:0.19] | REPEAT
AGTCAGCCTG GGTTAAGGGC TGCAGTGTGA CCTTGGGCAA GTCACTGAGC 17700 | var(17672):[A:0.01]
CCTCTAAGCT TGCTTCCTGT GTAGATGGTG GGGTGCTATA GAAGTGTTGC 17750 | var(17739):[C:0.19]
TGGTTTTGTG GATCCCAGAA TCTCAGAGCT GGCAGGGCTG CAGAGTCATT 17800 | REPEAT
GAGGCCAGCA CCCTCCAGTG ACACGGGCCC TCTGTCCTTC CCTTTGCATA 17850
GACATTTGGC TGTGATGGTA GGATGGACTC CCAGCAGGTA TGGGACAGGT 17900 | Exon 14
  T  F  G   C  D  G   R  M  D  S   Q  Q  V   W  D  R   544
GCCAGGTGTG TGGTGGGGAC AACAGCACGT GCAGCCCACG GAAGGGCTCT 17950
C  Q  V  C   G  G  D   N  S  T   C  S  P  R   K  G  S  561
TTCACAGCTG GCAGAGCGAG AGGTAGGCGG CCTCCCTCGG GGCAGAGGCT 18000
 F  T  A   G  R  A  R                                  568
GGGCTTCCCC CAGCCTCCAA GATGGCCACA GCCCAGAGCG TTGGTGCAGG 18050
GGCTGCTCAG GTCACAGGGC CTGCACACTC ACTCAGCCCT GGATGCCTCC 18100
TGTGGTGTCA GCGTCTCCCT CTTCCACTTC GCCACCCTTC TGTGGCAGGC 18150 | var(18131):[A:0.02] | var(18150):[T:0.01]
TCAGGTTTTG GCCTTGATGC TGCTGGGACT GTGGTGCCTC AGTAATGGTC 18200
ACTCACTGTA GCCGTGCTGC AAAAAAAACA CAGACATTGG CCGGGCGCTG 18250 | REPEAT
TGCTCACGCC TGTACTCCCG GCACTTTGGG AGGCTGAGGC GGGTGGATCA 18300 | var(18270):[A:0.05]
CCTGTAGTCG GGAGATCACC TACAGCCTGG CCAGTATGGT GAAACCCCAT 18350
CTCTACTAAA AATACAAAAA TTAGCTGGGC ATGATGGCGG GCGCCTGTAG 18400 | var(18374):[C:0.18]
TCCTAGCTAC TCAGGAGGCT GAGGCAGGAG AATTGCTTGA ACCCAGGAGG 18450
CAGAGGTTGC AGTGAGCCGA GATCCCTCTG CACTCCAGCC CGGGCAACAG 18500 | var(18479):[C:0.01]
AGTGAGACAC TGTCTCAAAA AAAAAAAAAA AAAAAGTATG GACGTTGTGC 18550
ATTCTGTGGC AGCTACCCTC TTCTCTCCTG CTCAAGAAAT CCCACTGAGA 18600
GGGACACAAG TGAATGAGAG GGATGGTAGT TACATTTGGA AAATCTTTGA 18650 | var(18623):[T:0.43]
CTTTGGTGTA TATATGAGGT CAAAAACCAT TTGCAAATGC CAGTGCTTCT 18700
ATGGAGAGCA GAGACTTGAG CCCTGCCTCC CTCTGGCTTG CCCCACTGTG 18750 | var(18718):[C:0.16] | REPEAT
CTGGAGAACC TTGGACCCGG TCCCTTCTCC CAGCCAGGGC AGAGCCTTGG 18800
CAGGTGGTCC TCCAGCCTGC TTTTAATTGC CCCCATGACA GGGGACTCAC 18850
TGCTGCTGGA GCCAGCCCCA TGGCATTGTT CAATTTTTCC CGACCAGCTA 18900
AGATCAGCTC CCTTTGTCTG TGGTGTGGTG GCTGTGAGGT CCACGCATCT 18950
CTCCTTCTTT TCTTCTTTCT AGAATATGTC ACATTTCTGA CAGTTACCCC 19000 | Exon 15 | var(18983):[G:0.39]
                        E  Y  V   T  F  L   T  V  T  P 578
CAACCTGACC AGTGTCTACA TTGCCAACCA CAGGCCTCTC TTCACACACT 19050
  N  L  T   S  V  Y   I  A  N  H   R  P  L   F  T  H   594
TGGGTGAGTT GACTGGAGGA CTCCCACCCA GTTAGCTAGA CTGCAAAGGT 19100 | var(19069):[A:0.03]
L                                                      595
GCAGAGCACT GTTGCCAAGA TGCCCTCACT TCTGACATCA CCCGCAAGTT 19150
CAGGGGGTTC CCCAAACCAC CCTCAGGCTT GATAGTTGAC TAGGAAGACT 19200 | REPEAT
CCCAGAGCTC ACTGAGAGCT GTGGCACATG GCTGCGGCTC CTTCCAGAAG 19250 | var(19214):[C:0.18]
AACACAGGTT AGAATTGTCC AAGGGAAGAG ATGTAGGCAG AGTCTGGGAG 19300
GGTCCAACCA GGAGGCCTGA TGTCTCAGGG ATGTGACACC CTTCTAGCAT 19350
TGGAGCGTGG CCATACGCAT GGAGTATTGC CCACACAGAA AGCCCACTGA 19400 | var(19351):[C:0.02]
GTGGGAGTTG AGAGTTTTTC CTGGGGTTTG AGTGCAAAGA CATGATTGAC 19450
TAATTGGCCA GGTGGATACT CTCAGTCTCT TGGTGACCCA GCCCCTATCC 19500 | var(19498):[C:0.16]
TAAATCACAT AGTTGGTCTT TCTGGTACAG CCAGCCCCTG CCCTAAAGGA 19550
GGACACTTCT GCCTGGTGTG ACCCGTGTTT CCTCTTGGAA GCCAACAGCA 19600
AAAGCTGGAC TTCTCTTTGG GCAAGGCCCG CTTCTTTGCT ATTGAGGGCC 19650
ACAGTGGGTC TTTCTGGAGT GTGTCTGCAC CTAACCTTTG AAGCCTTGGT 19700
TGCCGGCACT TGCCATGGGG TCCCTGAGCC CTGAGCCTGT TGAGTTCTGT 19750 | var(19729):[T:0.01]
GCGTGAGTGC ACTTGGTCAT AGCACTCACC AGGTTGTGGA AAGAGGCCTA 19800 | var(19761):[G:0.18]
GAGCCTCCGC TGTGGGGAAG CCTCTAGCTC AGATGCCTGT GGCTCCTTAG 19850
AGGAGGGCTG GGGACCCCGG GAAGGAGAGT CACTGACATG TGCCTGTGAG 19900
GAGGATGGGT GCTCAGCTCC ACACGGCTAA CAGGGCTGGT TCCCCGACAG 19950 | var(19923):[G:0.01] | var(19925):[A:0.39]
                                                       595
CGGTGAGGAT CGGAGGGCGC TATGTCGTGG CTGGGAAGAT GAGCATCTCC 20000 | Exon 16 | var(19961):[T:0.02] | var(19994):[T:0.02]
A  V  R  I   G  G  R   Y  V  V   A  G  K  M   S  I  S  612
CCTAACACCA CCTACCCCTC CCTCCTGGAG GATGGTCGTG TCGAGTACAG 20050 | var(20016):[G:0.01] | var(20038):[A:0.04]
 P  N  T   T  Y  P  S   L  L  E   D  G  R   V  E  Y  R 629
AGTGGCCCTC ACCGAGGACC GGCTGCCCCG CCTGGAGGAG ATCCGCATCT 20100
  V  A  L   T  E  D   R  L  P  R   L  E  E   I  R  I   645
GGGGACCCCT CCAGGAAGAT GCTGACATCC AGGTCAGCAG GAGAGCCTGG 20150
W  G  P  L   Q  E  D   A  D  I   Q                     656
GGGAGGCCAG TGGGGGCTTC TTCTTGGGGG CTATGGCTGC TTGCTCGTTT 20200 | var(20175):[C:0.05]
GTCTATCCAT CCATTCCCTG ATTCGTTCAT TTATTCATTC AGCGGTCACT 20250 | var(20224):[G:0.05] | REPEAT
TACAGGGGAC CCACTATGTG TTGGGCCCTG TGCTAGGCAA AATGTAGCTA 20300
GCTCCTCCAG GGGCTTAGGG TCCCACAAAT ATCCAAATGT GCCTGTGCCC 20350 | var(20342):[T:0.06]
AGAGCCCGTG GGAGAAGGCC CTGCAGTTCT GGGATCAGGT AAGGTTGGAG 20400
GGCCCAATGC AGGGGTCCAG GGCTCCCTGG GAAAGAGTGA TGGAGCTGAG 20450
GTGTCAGATG AGCAGATGTT GCTGGGCCAA GCAGGGAAGG AAGCGTATGG 20500
CTGAGGGAAC AGTGTCAGTG TGGGAGGGAT GAAGGAAGGT CCTACTGTGT 20550
GGGTTTGTGG GGAGATGAAG GCATGGACGC AGGTGCAGTG GCATCTGGGG 20600
AGTAGGCCTT GGTGCTGAGG AAGCTGAGAA CAGATGCTGG CTCTCACTGC 20650
TTCTTTGGTG CAGTGTGTGT GGGAACCGGA AGGCCTTGTT CAGGCGTGTC 20700
CTCAGTGACG TGTGCTCGCC CATGTATGTC CCCATTGGTG CTTCGCTGAG 20750
GAAGGCACGT GGAGGGTGGA GAGACATAAG CGCAGGCTGA AACAGACCTG 20800
AGAACCTTGG GAGAGGGGCC CAGTCTCAGC GGCCGGAGCA GCGTCCTCTG 20850 | var(20818):[T:0.01]
CCCCTACAGC AGCCAGAGAC AGGAGGGCCT CCCACAGATC AGGCCAGGCC 20900
GGGCCAAAGC AAGCCCCTGT GAGCGGCTTA TCCCTTCTCT TCCCCTGATA 20950
TGGTTCCCTT CCTCCCCTCC CCTTGCCTGG GACATTGTAT CCAGATGCTA 21000
GCTGCCGAGT GGCTCTCCCA TCATCCTCTG CAGTGTGTAA AAAAGCAGAT 21050 | REPEAT | REPEAT
TCCCGGGTCC TCTGCATATT CCCTGAATCA GGACTTCCCT GTGTTGGGCC 21100
TGAGAAACCG CA
CCGTAACC AACACAGGCT TGCGGCACTG GCCAGATGTG 21150
GGCATCGAGG GGGCAGGTGC GGAATGTCAC CTCGCCCTGG GCTCTGGCCT 21200
CCAGGCTGGC CTCTTTCTTG GGCTGGTCTT GGGCACAGGA CCCAGTTAAC 21250 | var(21201):[T:0.06] | var(21248):[:0.97]
CCTCCTGAAG AGCCTTAGGC CCAGGAACCT GCTGAAGTTC TTCCTAGTGC 21300
TCTCCGGGCC AGTCCCAAGC CAGTAGCTGG CCACAGGTCC CCAGGGATCC 21350
AGTTTCTTCC TGCCGACCCT ACCACAGGTC CCCAGGGATC CAGTTTCTTC 21400
CTGCCGACCC TACGGGCCTC AGCTCTGGCT CCAGAAGCAC TTTCTGTGCT 21450
GGCCCTGCCC TAGCCCTTCT TGGGCTCCTT AGCCCAGCCT AAGGTGGGCC 21500
TGCCTCCTCC ACTGCACTTT ATCCTCTACC CAGCCAGCTT AGGGAACCTT 21550 | var(21505):[:0.01]
CTCTGTGCTG CCCAAATACC CTATCATGTA ACCCACCAAT GACTTGGTAA 21600 | var(21576):[G:0.16]
TTACCTCCCC GAGCCCTCTA TCCCAACCCA CTGAGAGCTC CTTGCAGCTC 21650
AGCCAGTGTC CTGTGCACTG TGCTATCCCC AGAGCCTGGT ACAGGTCAGT 21700 | var(21663):[A:0.01]
GTTGGTGATT GCTTCCCGTT ATTTTTGTCT TTGTTGTTTT TTTAGAGAGG 21750 | REPEAT
GTCTCACTGT TGGCCAGGCT GGAGTGCTAT GTTGCCCAGG CTGCTCTGAA 21800
ACTCCTGGGC TCAAGTGATC TGCCTGCCTC AGGCTCCCAA AGTTTTGGGT 21850 | var(21834):[T:0.01]
TTACAGGCAT GAGCTACCGT GCCTGGCCAG TGATTGCTTG CTGAACGAAA 21900 | var(21895):[G:0.16]
GATTATAGGG ATGCAAGAAG AAGTTGGAAG GCTTCCCAGG GGAGGTGGCC 21950
ATGACAGTGA CCCTCAGGGA ACCCACTGGA CAAGGCCTGA AGCTCTTTGT 22000
CTGCAGGTTT ACAGGCGGTA TGGCGAGGAG TATGGCAACC TCACCCGCCC 22050 | Exon 17
       V   Y  R  R  Y   G  E  E   Y  G  N   L  T  R  P 671
AGACATCACC TTCACCTACT TCCAGCCTAA GCCACGGCAG GCCTGGGTGT 22100
  D  I  T   F  T  Y   F  Q  P  K   P  R  Q   A  W  V   687
GGGCCGCTGT GCGTGGGCCC TGCTCGGTGA GCTGTGGGGC AGGTGAGACC 22150
W  A  A  V   R  G  P   C  S  V   S  C  G  A            701
TGGGGAAGGC TCATCCACAG CACGGCTTGC CCCTGCAGGG AGGCGGCCTA 22200
GCCCTCCCTC TTCCCTCCCA GGGCTGCGCT GGGTAAACTA CAGCTGCCTG 22250 | Exon 18
                       G  L  R   W  V  N  Y   S  C  L  711
GACCAGGCCA GGAAGGAGTT GGTGGAGACT GTCCAGTGCC AAGGGAGCCA 22300
 D  Q  A   R  K  E  L   V  E  T   V  Q  C   Q  G  S  Q 728
GCAGCCACCA GCGTGGCCAG AGGCCTGCGT GCTCGAACCC TGCCCTCCCT 22350 | var(22335):[A:0.02]
  Q  P  P   A  W  P   E  A  C  V   L  E  P   C  P  P   744
AGTGAGTGTG GTGCTGTCTG CGCAGCTCCA AGGGGGAGAG AGGGTTCCGC 22400
Y                                                      745
TGGGGCTGCT GGGCTCTGTC CCTGGCCTAT GGGGCCCATG TGGCAGGGCC 22450 | REPEAT
GGGCTGAGCT GCTCCTGTGC AGGCTCTCAT TACCCCTGCC CACAGCCCTG 22500
CAAGGGGGGC TCTGTGAGTG CCCCCATTCT GCAGGTGAGG ACACTGAGGC 22550
TTGGGGCAGA CATGGTGACA ATGTCAGCCC AGTGGGACCC ACACCTGCTG 22600
CCACCTTGTC TGGGCCACCG AGGCCTCTCT TGAGCTCAGG TACTCATGGT 22650
GAGATGGAGG TGATTGCCTA CCTGGAGGGT TGTAGGGAGA CTTGCGGAGC 22700
TCCTGGTGCA AAGCCCCTGG CTGTCACCAC ACCTGACGGG GCACACTGTT 22750
AGGGACGAGG CCATTCCTGC TGGGTGCAGG ACAGGGCAGC TGCTCACCAG 22800
CCTGTGATTC GGTTGTCCTC AGGCTCAGCC GTCTGGCAGC CTGGGAACAC 22850 | var(22821):[G:0.04]
CTGGAGAGGC TAGGCTGGCC GTAGTGCCCA TTGCTTGTCC CAGACCGGGG 22900
GAGTACATCA GCACCTGCCA CCCCATCACC CCAGGCCAGC CTGGGACCTG 22950
GCCAGGGTCC CGACGCTCTG TCTCCTTCCT CAGCTGGGCG GTGGGAGACT 23000 | Exon 19
                                      W  A   V  G  D   750
TCGGCCCATG CAGCGCCTCC TGTGGGGGCG GCCTGCGGGA GCGGCCAGTG 23050 | var(23029):[T:0.37]
F  G  P  C   S  A  S   C  G  G   G  L  R  E   R  P  V  767
CGCTGCGTGG AGGCCCAGGG CAGCCTCCTG AAGACATTGC CCCCAGCCCG 23100
 R  C  V   E  A  Q  G   S  L  L   K  T  L   P  P  A  R 784
GTGCAGAGCA GGGGCCCAGC AGCCAGCTGT GGCGCTGGAA ACCTGCAACC 23150
  C  R  A   G  A  Q   Q  P  A  V   A  L  E   T  C  N   800
CCCAGCCCTG CCCTGCCAGG TGAGCCCAGG GCTAGGTGGG GCTGGGAGAG 23200
P  Q  P  C   P  A  R                                   807
GGCCTTCCTG GCAGAGCTCG TCCCTGCGCT GAGCCCCCAT CCTTCTGAGA 23250 | var(23220):[A:0.02] | var(23227):[T:0.02]
ATCCCCTCCT CCTGAGGCCT CCGGCGGGGC CTCACCATCC AGGGTGATGG 23300 | var(23283):[G:0.24]
GCAGTGTCAC CTGGCGGTTG TAAGTGCTGC TGTCAGAGTT CCTTACTACC 23350 | REPEAT
CAGGAGAGCC TGGGCCCATT GTTTCCCTCT CTGAGCTTCC GAGCCCCTGC 23400
TCTGAAATGG GGATGCCGAC CTGCCTGGGG AGGGGGGGCT TCGAGGATGA 23450
GGTCAAACTG AACGGAGTGG GAGATGTCAC TTTCTCATCA CCACCATCTC 23500
CCCCGTGCCC ACGTGGCTGC ATCTCATCCC CTCAGTGTCC AAGTTGACAG 23550 | var(23528):[G:0.01]
TGGCTTATCA TCCTGCCCTG CCACTAACGA GCTGAGTGAC AGGGCAAGTC 23600 | REPEAT
CCCTCCTCTG TGGGCTTCAG TTTTGCGACC TGTCCGGTGG GAGGGGATTG 23650 | var(23636):[C:0.01]
GTCTGGATTG TTGGTGGCCC ACTCATAGCT CTGGACTCCT TTCCCCGCCT 23700 | REPEAT
CGTCATCCGT GGCAGACAAA ACAGTCACCA CTCTTCCCCG CTGAGGCCAG 23750
ATAGGGCCTC AGAATCCTTC TCACACAGCT CTCCAGGCAG CCACTTTAGC 23800
GCAGGGCTGA CTCACAGCTG AAACCCATTG GCCACCCTTG AACCTGGTGA 23850
TCCAATTCCA TGTGGCACCT GTTTCTCTGC ACCTGCTATG GTGCATGGAG 23900
TCAGTGATTA CCTGGCTGGA GGTCGGCCTC TGCCTCTGGA GAGTAGGAGG 23950
GATGGGTTCT CTTTTTTTTT TTTATTAAAA GACAGAGTCT TGTTCTCTCA 24000 | var(23951):[A:0.02] | REPEAT
CCCAGGCTGG TATGCAGTGG CATGATCTTG GCTCACTGCA ACCTCCTGCC 24050
TCAGCAAGTG TGCGCCACCA AGCCCAACTA ATTTTTGTAT TTTTTGTAGA 24100
AACAGGGTTT TGCCATGTTG CCCAGGCTGG TCTCCAACTC CCGGGCTCAA 24150
GCAGTCTGCT CACCTCAGCC TCCTAAAGTG CTGAGCTACC GTGCCTGGCC 24200
AGGGATAGGT TCTGTCTCTG CACCCTGGGT GCAGGTGGGG TGCCTGACTG 24250
TTGAGCAGCG AGTGCTTGTT GAATGGGAAC CTGCTGGCTG ATGAATGGGG 24300 | var(24254):[C:0.04]
AACCCGGTGC TTCAGGGAGA GACCCTGAGC TTCACTTCTC TGTGGGGCTC 24350 | var(24328):[T:0.06]
CTCTTTGGGC TCCTGGATGT TGGGGAGCAG GTCCCCTTCC TCCCTGCCCC 24400
TAGCAGCTGG GCTATACCTT CCCCTGGGTG GCAGAGGCAG GGCCTGATGA 24450
CTGTCTCATG CCATCCTCAG GTGGGAGGTG TCAGAGCCCA GCTCATGCAC 24500 | Exon 20
                        W  E  V   S  E  P   S  S  C  T 817
ATCAGCTGGT GGAGCAGGCC TGGCCTTGGA GAACGAGACC TGTGTGCCAG 24550
  S  A  G   G  A  G   L  A  L  E   N  E  T   C  V  P   833
GGGCAGATGG CCTGGAGGCT CCAGTGACTG AGGGGCCTGG CTCCGTAGAT 24600 | var(24558):[C:0.03]
G  A  D  G   L  E  A   P  V  T   E  G  P  G   S  V  D  850
GAGAAGCTGC CTGCCCCTGA GCCCTGTGTC GGGATGTCAT GTCCTCCAGG 24650
 E  K  L   P  A  P  E   P  C  V   G  M  S   C  P  P  G 867
CTGGGGCCAT GTGAGTGCCC TGGGCATGAG GGTGGCTGGG GCTGTTGAGT 24700
  W  G  H                                              870
CCTTTACCTG GCTGGGAGAA CGAGGAGCAC CCATTGCCAC CGTCCTCCAG 24750
GCCAGAGCAA GAACACCATC CTTCTGTGGG AATGCTGTCT GAGGGCCACC 24800
CCTGCTCAGA AAAGAAGCTT AGAAAGAGGG CTCAGGGCCC CTGGGAAGGC 24850 | var(24836):[A:0.01]
TCCCATTCCC CTTGCAAGCC GGGCTGAGGG AAGCATCTGA GGAGAGTGTA 24900
ATGCAGCTGC TGTGCAGAGA AATGCTGCCA GGCTCCCGCC TGGCGTCCAG 24950
GGGCTGGAGG CTGACTGGCC TTGCTCTCTG GCCTGGGTGC TGGCAACCCT 25000
CGCCCCTCAT GGCTGGGGGG ATTGCAGGGC CAGGCATGCT CCCATGTCCC 25050 | var(25038):[A:0.01] | var(25045):[A:0.07]
ACTCTTGGTC CCCAGCTCTC GGCCAGGCCC ACAGTGAGCA CTCATGCTGC 25100
TGAGGAGCCT GCAAAGGTGG GGTGTGCAGC AAGGATACCC GCTGCGAGAC 25150
CGGGGAGCCG ATCTCGCCAA GGGAGGAGGG GAGGGAGCCC CTGGTGCACA 25200 | var(25159):[T:0.03] | var(25160):[A:0.08] | var(25165):[T:0.03]
CACGCCACTT CCTGGTCTCT CTGCTGCTGC CTGAGAAGAT CGAGACGGGG 25250
ATCGCTGGGT CCTCAGAGGA GGCCCAGACC CACCAGCTTG TTGCTATTCC 25300
CCACAGCTGG ATGCCACCTC TGCAGGGGAG AAGGCTCCCT CCCCATGGGG 25350 | Exon 21
       L   D  A  T  S   A  G  E   K  A  P   S  P  W  G 885
CAGCATCAGG ACGGGGGCTC AAGCTGCACA CGTGTGGACC CCTGCGGCAG 25400 | var(25395):[T:0.17]
  S  I  R   T  G  A   Q  A  A  H   V  W  T   P  A  A   901
GGTCGTGCTC CGTCTCCTGC GGGCGAGGTG AGGGCCCCCG GGATGCTCCT 25450
G  S  C  S   V  S  C   G  R                            910
GGGGACCAGC ACTCATGGTA ACTCTCCTGT CCACTTGCAT CTTGCCTCGT 25500
TCTAAAAAGC ATTTGAGGTG GATTGCAGAA AATCCAGACT ATATGGGAAC 25550 | var(25504):[G:0.36]
ACGTGGTAAT ACACAAGGAG ACTAAGCATA GTAGCTGACA GCCACTTCAA 25600
ATGTGGGTGT TGATTGGCTG AAAGGTAGGA AAAGACAATA ACGCCCGGCA 25650 | var(25646):[T:0.04]
GTGTGGCACG AGAGCCATTC CTTATGGTCC TAGCAGAGCG GCCGGGGGGT 25700 | var(25659):[T:0.06]
CCCCAATTGA TGACCCGAGC AGAGAAACCT TAGCTTTAAG ATACACAGCG 25750
TTCTTCTATT TTCCCAATCT TGTTTTATTG CAGTATAACA CAGATATTAT 25800 | REPEAT
AAAATTTACC ATCCAAACTG TTTCTCCCTG TGCAGGTCAG TGGCATAAAA 25850
GCACAGTCAC ATTGTTGTGC GGCCATCACC ACCAACCTCT CCAGAACTTT 25900 | var(25878):[G:0.19] | var(25891):[T:0.01]
TCCAGTTTCG CAAACTGGAG CTCTGTCCCT GTGAAACACG AACTCCCATT 25950
TCCCCCTCCG CAGCCCCTGG CAACCTCCAT TCTCCTTTCT GTCTCCAGAT 26000
TCCACAATTC TAGGGACCTT GTAGAAGTGG AATCATATAG CATTTGCCTT 26050
TTTGTTACTA GTTTTCACTC AGCATGATGT CCTCACAGTT CATCCATGTT 26100
GTAGCATGTG TGAGTGTTTC CTTCTTAAGG CTGAAAAAGA TTCCATTGTG 26150
AGTGTATCCT TTACAGGTTT ATCCATTTAT TCATCAGTGG ACACTTGGCT 26200 | var(26166):[T:0.35]
TCCTTCCACA CTTTGGCTAT TGTGAATAAT GCTTCTGTGA ACATGGGTGT 26250
GCAAATATCT GTTTGAGTTC CTGCTTTCAG TTCTTTTGGG TGTATATCTA 26300 | var(26259):[G:0.01]
GAAGTGTGGT AGCTGGGTAA GATGAGAATT CTATGTTTAA TTTTTGTGGA 26350 | NOT SCANNED
ACTGCTGGAC TGTTTTCCCC AGTGGCTGCA CCATTTTACA TTTCCACTAA 26400
TGGTGCATAA GAGTTCCAAT GTCCTCCCAT CCTTGCCAAC ACTTTTTATT 26450
TCTATGGTTT TTTTTGTTTT TGTTTTTGTT TTTGAGACAG AGTCTCATTC 26500 | REPEAT
TGTTGCCGAG GCTGGAGTGC AGTGGCATGA TCTTGGCTCA TTGTAACCTT 26550
CGCCTCCGGG GCTCAAGTGA TTCTCGTGCT TCAGCCTCCC GAGTAGCTAG 26600
GACTACAGGC GTCTGCCACC ATGCCTGGCT AATTTTTTGT TTAGTAGAGA 26650
TGGGGTTTCA CCATGTTGGC CAGGCTGGTC CCAAACTCTT GACCTCAGGT 26700
GATCTGCCTG CCTTGGCCTC CCAACGTGCT GGGATTACAG GCGTGAGCCC 26750
CCACACCTGG CCTATTTCTG TGTTTTTTTT ATAATGGCCA TCCTAATGGG 26800 | REPEAT
CTTGAG
AAGA CACACCATGT TCTTAAACGA AAACCCTGAC CACTTGCTCA 26850
GTAAAATGTC AGCCTGTTTA AAACCGAGAC CAAAAAGAGA TTTCTTTTTC 26900 | REPEAT
TCTCTTTTCT TTTTTGAGAC AAAAAAGAAA ACCTCTGTCA CCAGGTTGGA 26950
GTGTAGTGGC ACAATCTTAG CTCACTACAA CCTCCACCAC CTGGGCTGAA 27000
GCCATCCTCC CCCCTCAGCC TCCTGAATAG CTACTATACC CTGCTAATTT 27050
TTGTAGTTTT GGCAGAGATG GGATCTCCCT ATGTTGCCCA GCCTGATCTC 27100
CTGAGCTCAA GCGATCCTTC TGCCTCGGCC TCTCAAAGTG CTGGGATTAT 27150
AGGCATGAGC CACTGTGCCC AACC
AAGAGA TTTTTTTTCT TTTTCTTTTT 27200 | REPEAT
TTTCTTTTTT TTGAGACTAA GAGTTTTCCT CTGTCGCCCA GGCTGAAGTG 27250
CAGTGGTGTG ATCTTGGCTC ACTGCAACCT CCGCCTCCCA TGTTCAAACG 27300
ATTCTCATGC CTCAGCCTCC TGAGCAGCTG GGACTCCAGC TATGTGCCAC 27350
CACACCTGGC TAATTTTTTG TATTTTATTT TATCAGAGAG GGGGTTTCGC 27400
CATGATGGCC ACGCTGGTCT CAAACTCCTG ACCTCAGGTG ATCCACCCGC 27450
CTTGGCCTCC CAAAGTGCTG GGATTACAGG CATGAGCCAC TGAGCC
TATT 27500
TCTTTTGAGG ATATTCCTAA AAGAGAGACT TGAGAAAACT GGCCCTAATA 27550
ACATCTTTAT GATAGACACA ATCAGAGATT TTCATATTGT GATTTTTTTT 27600 | REPEAT
TCTTTTTTTT TTTTTTGAGA TGGAGTCTCG CTCTGTCACC CAGGCTGGAG 27650 | var(27609):[C:0.11]
TCCAGTGGCG CAGTCTTGGC TCACTGCAAC CTCTGCCTCC TGGGTTCAAG 27700
TGATTCTCCG TCTCAGCCTC CTGAGTAGCT GGGATTACAG GTGCGCACCA 27750
CCACGCTCAG CTAATTTTTG TATTTTTAGT AGAGACGGGG TTTCACCATG 27800
TTGGTCAGGC TCGTCTCGAA CTCCTGACCT TGTGATCCGC CGCCCAAAGT 27850
GCTGTGATTA CAGGCGTGAG CCACTGTGCC TGGCCCATAT TGCAATTCTT 27900
ATAATGCCTC TCGGTCAACA ATAACAGCTA CCATTTGTCA AGTGTCTACT 27950 | REPEAT
GTGTGCCAGG CACTTGTTAT CTTCCCTTTT AAAAATCTTT ATAAATGATT 28000
CTGCAAGGTA GATGCCATTA TCTTTTTTTC TAAATCTAAG ATTCAGAGGG 28050
TTAAGTCAGT TGTCTGAGGT CACACAGCTG GTAAGTGGCA GAGCCGGGAT 28100
TGAAACCCAT GCGGGCCTTA TGTGCTAGAG GTGTCCAGTG AGCCTGGGCT 28150
GCAGTCCTTG CTGAGCCTGT CCCTTGGGGC TCTGGGTCTC TGCTTTGTCC 28200
ACGCAGGTCT GATGGAGCTG CGTTTCCTGT GCATGGACTC TGCCCTCAGG 28250 | Exon 22
      G  L   M  E  L   R  F  L   C  M  D  S   A  L  R  925
GTGCCTGTCC AGGAAGAGCT GTGTGGCCTG GCAAGCAAGC CTGGGAGCCG 28300
 V  P  V   Q  E  E  L   C  G  L   A  S  K   P  G  S  R 942
GCGGGAGGTC TGCCAGGCTG TCCCGTGCCC TGCTCGGTGA GTGAGGGGAG 28350
  R  E  V   C  Q  A   V  P  C  P   A  R                954
CAAGACTGTG TGCTGGCCTT CTCCCTGTAA GTGGGAGACC CGAGCCTTGG 28400 | var(28391):[T:0.10]
CTCCATGCCC GGTGACCTGC GGAGGGGGGC AGGTGCTGCT GGCTGTGCAC 28450 | var(28411):[A:0.01]
TGTGTGAGGC TGGACCATGG CCGCCCCATC CCCCTGCCTC ACTCCAAGTG 28500
CAGGCCAGAG CCCCGGCCCA GCCCCTTTGA GGACTGCAAC CCAGAGCCCT 28550
GCCCTGCCAG GTGGGCCCCT TCCCAAGGAG ACAGGGGGTG CTAGGTCTGC 28600
ATCCTGGCTC TTTCCTCACC TCCAAGCCAG ACCTTTTGAC CCTCAGTGTC 28650
CTCACCAGTG GGAGCAGGTC ATTTTGTGCC CCCAGAAGAC TGGGGGAGTT 28700
TAATGAAAGG ATTAGATGCA TGTAAAGTAC ATGCTAAATG CAATGAGTGT 28750
AAAATGCATG CTCGATGCAA CGCGTGTAAA GTACATTGCA CAGGATCTGG 28800
GATGCTGTGG GTGCACATGG TTGCTGGTGC GTTTCTTCAT CGCCTGCTCT 28850 | REPEAT
TTATGGAGCA CCTAGGCCCC GGGGCCGTCC TGGAGCTAGG GGACACAGCA 28900
GAGAACAAGG CAGACAAATG TCCCTGACCT CCTGGAGCAA ATGCAGGGGG 28950
AAAGGGGGAC AGATAATAAT AGGACAGGCG GGGAATGCAG TTTGATGGAT 29000 | var(28979):[T:0.11]
GGTGTTCAGT GCGATGCAGC CAAACACAGC GGGAGGGGAG GAGGGGAGGG 29050
CTGGCGGGGT GGGCTCCAGG GCGGTGGTGC TGGGATCACT GTTGAAGACA 29100
GACATGCAGG GCCCTTGGGT GCCCGGACCC CTGCCCCCAC TGTCTCTGGG 29150 | var(29119):[C:0.03] | var(29130):[G:0.02]
ATACGACATC TGTCGTTTGC CCTCACCTTT CTCTTCTGTA AAATGGGTTT 29200 | var(29164):[G:0.20]
GTCCAAATGT TCTGTCCACT CTGCCAAGCC TCTTGGTGAG GACACAAGGG 29250
GGCCTCCAGA AAGAGAACCT CTCCGGGCCC TTCCCAGCTT CCTGTCTCTT 29300
CCTAGTCTGG GGAAATGAAG GGGAGACCTG GCTCCCCTGG GTTCCCAGGC 29350
CCTGGGGCTG TTTGGGGTCC CTGACTCCAG TTTGCTCCAG GTGGCAGTAC 29400 | Exon 23
                                              W  Q  Y  957
AAGCTGGCGG CCTGCAGCGT GAGCTGTGGG AGAGGGGTCG TGCGGAGGAT 29450 | var(29439):[T:0.03]
 K  L  A   A  C  S  V   S  C  G   R  G  V   V  R  R  I 974
CCTGTATTGT GCCCGGGCCC ATGGGGAGGA CGATGGTGAG GAGATCCTGT 29500 | var(29473):[A:0.01]
  L  Y  C   A  R  A   H  G  E  D   D  G  E   E  I  L   990
TGGACACCCA GTGCCAGGGG CTGCCTCGCC CGGAACCCCA GGAGGCCTGC 29550
L  D  T  Q   C  Q  G   L  P  R   P  E  P  Q   E  A  C  1007
AGCCTGGAGC CCTGCCCACC TAGGTGAGTC AGCCGGTGAT GGGAGGGGCA 29600
 S  L  E   P  C  P  P   R                              1015
GCTCCTGGTG TGTGCAGATG CCAGGCCAGG CGCTGTGGTG TGTGCCTGTA 29650 | REPEAT
ATCGCAGCTA CTTGGAAAGC TGAATCAGGA GAACCACTTG AGTCCAGGAG 29700
TGCAAGTCCA ACCTGGGCAA CACAGTGAGA CCTCATCTCT AAAAAAAAAA 29750
CAAGACGGGG CCAGGTGTGG TGGCTCACGC CTGTAATCCC AGCGCTATGG 29800 | REPEAT
AAGGCTGAAG CGGGTGGATT ACCTGAGGTC AGGAGCTTGA GACCAGCCTG 29850
GCCAACATGG TGAAACCCCA TCTTTACTAA AAATACAACA ATTAGGCTGG 29900 | REPEAT
GCGCGGTGGC TCACTCCTGT AATCCCAGCA CTTTGGGAGG CTGAGGCGGG 29950 | NOT SCANNED
CAGATCACCT GAGGTTGGGA GTTCGAGACC AGCCTGTCCA ACATACAGAA 30000
ACCCTGTCTC TACTAAAAAT ACAAAATTAG CCGGGTGTGG TGGTACATGC 30050
CTGTAATCCC AGTTACTTGG GAGGCTGAGG CAGAATCGCT TGAACCGGGG 30100
AGGCCAAGGT TGTGGTGAGC CAAGATTACG CCACTGGACT CCAGCCTGGC 30150
TAACAGCAGC AA
AACTCCAT CTCAAAAAAA AAAAAAAAAA AAGAAAACCC 30200 | REPEAT
ACAAAAATTA GCCTGGCGTG GTGGTGTGCA CCTGTCATCC CAGCTACTTC 30250
AGAGGCGGAG GCAGGAGAAT CGCTTGAACC CGGGAGGCGG AGGTTGCAGT 30300
GAGCCGAGAT GGCGCCGCTG GCACTCCAGC CTGGGCTACA GAGCGAGACT 30350 | var(30344):[T:0.02]
CCGTCTCAAA AACAAAACAA CAAAACAAAA CAAGACGGGG TGGGGGGCTC 30400 | var(30392):[T:0.03]
AGTGGCCCAA GAGCCAGTCT GTAAGGAATA GGGCTACCTG GCAGGCTGTG 30450
CTAGTTGTGG GAGGTGAAGT TTAAGCACCA TGCAGGCAGG GTGCAGTGTG 30500 | var(30459):[A:0.01] | var(30461):[C:0.07]
GGGAGGCCTG GGGGACAGAG GAGGCAGCAT TTGAGCAGAA CCTAAAGCTG 30550 | var(30527):[A:0.02]
TGAGCACCAG CATTCTGATG TGGAAGACGG GAGGGATGGA GGTCTCCACA 30600
GGGACACACA CAGCCACACT AGGACACGGG ACAGAATCAT GTTCAAGTCC 30650
GTGGGGTCCG GAGCCCAGTG GTAAAGGGCG AACATTTGCC TACCTCATTT 30700
ACAATTCTTT AATGGTTTCT TTTTGTAGGT TTGCATTTTT AGTAAAGAAA 30750
TACTTTTCTA TATCATACAG AAACGTCCAG AAAAGAATGT AACAGACATG 30800
TATGTTCCAG CACTCCAGTT TAATAGATAG CATCCTACTG CCATGTTTCC 30850
TTCCTGTCCA CTTACTTTTA TTTATTTAAT TTATTTATTT TGAGACGGAG 30900 | REPEAT | NOT SCANNED
TCTCGCTTTG TTGCCCAGGC AGTGATGCAA TCTTGGCTCA CTGCAACCTC 30950
CGCCTCCCGG GTTCAAGCCA TTCTCCTGTC TCAGCCTCCC AAGTAGCTGG 31000
GAATACAGGC ACCCACAACC ACACCCAGCT AACTTTTGTA TTTTTAGTAG 31050
AGACAGGGTT TCACCATATT GGTCAGGCCG ATCTTGAACT CCTGACCTCA 31100
GGAGATCTGC CTACCTCAGC ATTCCAAAGT GCTGGGATTA CAGATGTGAG 31150
CCATCACACC TGGCC
AGCCT CCTTAGTTTT AAATAAATCC AGTTACAGAT 31200
AAGATTTCAC TTAAATTTAG GCTGGTCATG GCTCACGCCT GTAATCTCAG 31250 | REPEAT
CACTTCAGGA GGCTGAGATG GGTGGATCAT TTGAGCCCAG GAGTTTGAGA 31300
CCAGCCTGGA CAACATGCCA AAACCTTGTC TCTACTATAA ATACAAAAAT 31350
TAGCCGGGCA TGGTGGTGCA TGCCAGTATC CCCAGCTACT CGGGAGGCTG 31400
AGGCAGGAGA ATCACCTGAA CCTTGGGAGG TCAAGGCTGC AGTGAGCAGA 31450
GATCACACCA CCACTGCATG CCAGCCTGGG CAACAGCATG AGACCCTGTC 31500
TCAAAAAAAA AAAAAAAAAA AAAAAGA
TTT TACTTAAATT TAAACCCTGT 31550 | REPEAT
ACTAATCTGT GATTTATTTG GAGTATGTTG CAAAGTAGGG ACCAAAGGAT 31600
TTTTTTTTTT TTCTAAATTG TTAACTAGCA TCTGTTGGAC AAGCCCTGAT 31650
GCCTCCAGGT GGCTCCTTGG TGGTATTGGT GTGTGTTAGA ATCTATGTCT 31700
GGGCTTTCTA CTGGGTTTTT TTCTTCTCCT TTTTTTTTTT TGAGACAGTT 31750 | REPEAT
TTTCTCTGTC ACCCAGGGTG GGGTGCAGTG GCGCGATCTC AGCTCACTGC 31800
AACCTCCGCC TCCTGGGTTC AAGTGATTTT CATGCCTCAG CTTCCCGAGT 31850
AGCTGGGATT ACAGGTGCCC GCCACCACCC CCAACTGATT TTGTGTTTTT 31900
AATAGAGACA GGGTTTCACT ATGTTGGCCA GGCTGGTCTT GAACTCCTGA 31950
CCTCAAGTGA TCTGCCAGGT
TCTGTTTTTT GTGCTTTTTT TTTCTAGCTA 32000 | REPEAT
TTCTCTTGCC CATACAAAAT TGTTTTAAAT GTTGTAGCTT TATAACCATT 32050 | var(32011):[G:0.01]
TAACATCTGT GTCACTAGTG TGTCCTGATT TCTTTGCCTA TGCTAAAGTC 32100
CCTTGGCTGT GTGTCCCATT TATTTTTCCA CATCACATTT AGAGATGATC 32150
TGGGATTTTA TGGGAATTGC AGGGTTTTTC ACACTGCACG CTGCCTGCAT 32200
GGTGCTTAAA CTTCACCTCC CACACCTAGC ACAGCCTACC AGGTAGCCCT 32250 | var(32201):[A:0.01]
GTTCTCTACA GACCACCTCT TGGGCCACTG AGCCTCCCCT CACTTTTTTT 32300 | var(32251):[A:0.01] | REPEAT
TAGAGATGGG GTCTCACTAT GTTGCCCAGT CTGGACTTGA ATTCCTGGGC 32350
TCAAGTGATC CTCCTGCTTC AGCCTCCCGA GTAGCTGGGA TGCAGGCACA 32400
CACTACATGA GCTCTGGCCA TCCCTCTGAC GTTGCTGTAG CCACGCTGGC 32450 | REPEAT
CTCATTGTCC TGGAACATTC CAGGGATACT CCCCTGACTT AGGGCTTCTG 32500
TGCTAGCTCT CGCTGCCTGA TGTCTTCTGT GGATATCCTC GAGGCCCTGG 32550 | NOT SCANNED
ATATCCCTCC CCCAGGCTCG GCTCAGACAC CACAACTCCA AAGTGGCCCA 32600
GTGCCCTCCC TGAGCGTCGG TCCAGAACGG CACTCTCGTC CCTCCTGTGA 32650
CGCTCTGCTT
GGCACTTTGG GAGGCTGAGG CGGGAGGATT GCTTGAGCCC 32700 | REPEAT
AGGAGTTCTA GACCAGCCTG GGCAACATAG TGAGACCCCG TCTCTACAAA 32750
AAATACAAAA ATTGGCTGTG CGCGGTGGCT TATGCCTGTA ATCCCAGCAC 32800 | REPEAT
TTTGGGAGGC GAAGGCGGGC AGATCACGAG GTCAGGAGAT CGAGACCATC 32850
CTGGCTAACA CGGTGAAACC CTGTCTCTAC TAAAAATACA AAAAATTAGC 32900
TGGGTGTAGT GGTGGGTGCC TGTAGTCCCA GCTACTTGGG AGGCTGAGGC 32950
AGGAGAATGA CGTGAACCCA GGAGGCGGAG CTTGCAGTGA GCTGAGATTG 33000
TGCTACTGCA CTCCAGCCTG GGTGGTTGCA GTGAGCTGAG ATTGTGCCAC 33050 | REPEAT
TGCACTCCAG CCTGGGCGAT GAGTGAGACT CCATCTCAAA AACAAAAACA 33100
AACAAACAAA AATTACAAAA ATTAGCCAGG CATGATGGCA CATGCCTGTA 33150 | REPEAT
GTCTCAGCTA CTTGGGAGGC TGAGGTGAGA GGATGGCTTG AACCCTGGAG 33200
GTTGAGGCTG CAGTGAGCCG TGATCACACC ACTGCCCTCC AGCCTGGGTG 33250
ACAGGGCGAG ACCGTGTCTC AAAGAAAACC ATTAAAATAA AATAAAAAAT 33300
AAAA
TTTCTG CGATGCACAC GACAGCCTCC ACAGCAAATC AGCATCCAGT 33350
TGCTCATGCC AGTGATGCCC CAATGGAGAA CAATCCACGC TCTGAGAGGA 33400 | REPEAT
GGTGGGGTCT GGTTTGGTTC ACTGCCACCT CCCAGTGTCA TGTAGAACAG 33450
TGCCAAGCCG CGGAAGGCAC GGGTCCAAGA GGCAGCGCTG CAGGGTCATG 33500
GGGGAGCACA GTATTGCGAT GAAGATCCCA GCTCCCTTGC AGGCTGCCTG 33550 | REPEAT | var(33510):[G:0.01]
GGTTTGTGTC TGGGCTCTGA AGAATGCGGG CCATAATTAG TTATTGATTG 33600 | var(33555):[C:0.35]
ATTACAGATC AACATGGGCA GCCTTCCCTT GCCCAAGGGA AGGGAACTCG 33650
GCCTTCCCTT GCAGAACGTG GGGTGTTGAG ATCTGTCTCC TGTTACCCAG 33700
GGGCTCGCTT CCTGTTGCTG TTACTTGGGT CCATAGGCAA CCCCTGGGGT 33750
GCTGACAGGT GTTCTGTGAT AAAGGCGACT AGAGGGGGAT GTGCAATTAG 33800 | var(33775):[C:0.15]
GGAAACAGGG GCCTCTTCCC CCTAGGGCCT TTTGGTAGCT CTCCTGTGGC 33850
CGTGAGCCCT GGCCCCAGAC AGGAGGGGCT CAGTGGCTGC ACTTTCCATC 33900
TTGCCTGGCC ACGGAAGCTG TCTAGGCAAC TGTCCGAGTA CACGTGGGTG 33950
GAGAGGGGCC TGCGTGGGGC AGTACTGTCT CTGGGGAGAC CTAGCCTCTC 34000
TCTGGGGTCT TCTCTTCCTG CAGGTGGAAA GTCATGTCCC TTGGCCCATG 34050 | var(34001):[C:0.01] | Exon 24
                           W  K   V  M  S   L  G  P  C 1024
TTCGGCCAGC TGTGGCCTTG GCACTGCTAG ACGCTCGGTG GCCTGTGT