ERCC1 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

TGTGTATGGG AATTTGGTAT GTGATAAAGG TAGAATTTCA GAACAGTGGA 50
GAAAAGATCT ACCTTTGGTC AACTTGAGAC AATTGGTTAC ATCACTCATA 100
AACAACGACC TCGGTGCACT TTCAAAAATA AATCTTGGCC AGGCACCGTG 150 | REPEAT
GCTCATGCTT GTAATCCCAG CACTTTGGGA GGCTGAGGTG GGCAGATCAC 200
TTGAGGTCAA GAGTTCGAGA CCAGCAGGGC CAACATGGTG AAACTCCGTC 250
TCTACTAAAA ATACAAAAGT TAGCCTGTAA TCCCAGCTAC TTGGGAGGCT 300 | var(263):[G:0.05]
GAGGCAGGAG AACTGCTTGA ATGTGGGTGG CGGAGGTTGC AGTGAGCCTA 350
GATTGCTCCA TTGCACTCCA GCCTAGGCAA CAAGAGCAAA ACTCCATCTC 400 | var(361):[C:0.31]
AAAAAATAAT AAATAAATAA ATAAATCTTA CATAGATTAA AGCCAGATGA 450
CCTGCTCATT CTAGGTCATT ACTGTTTGGG ACCGTGTCTG TGTCCCTCAC 500 | var(495):[G:0.01]
TGAACTGTAA GCTCTGGGAG GACAACACGG GGCTTTTATC TTTTACGTAG 550
ATAAAAGAAA TGATAGAATA TATCATTATA GCCGTGCACT GTAATCCCAG 600 | REPEAT
CACTTTGGGA GGTCACAAAG TGACCTCAGG ATCAGCTGAG GTCAGGAGTT 650
TGAGACCAGC CTGGCCAACA TGGTGAAACC CCGTCTCTAC TAAAAATACA 700
AAAAAAAAAA AAAAAAAAAA AAATTAGCCG GGCATGGTGG CACATGCCTG 750 | NOT SCANNED
TAATCCCAGC TACTAAGGAG GCAGGAGAAT CGCTTGAACC CGGGAGGGGG 800
AGGTGCAGTG AACTGAGATC GCGCCATTGC ACTCCAGCCT GGGTAATAAG 850
AGCGAAACTC CGTCTCGAAA AAAAAAAAAA AAAGAAAAAA AAGAA
TTTAT 900 | REPEAT
CATTATGACC CTGGGTTATG GCAGGGCTCT TAACACACCA AAAGCAAAAG 950
TCAGAACGGA ACAG
ATTGAT AAATAGTTGC GCATAAACAC AAATAACTTC 1000
TGTGCCAAAA ATAACTAAAG TTAAAGCCCA AAGTAGAAAC TAGGAGGAAA 1050
TGTTTGCAAT ATGGGTAACT AAGGATTAGA ATCAGAATCC ATAAAGTACC 1100 | var(1079):[C:0.01]
CCTAGAAATT AATAGTAATA AAAAAGCCAT ACAACCCATT TTAAAAATGG 1150
ACAAGGAATA TGAGCAAGCA ATTCACAGAA GACAAAATTT ACAAGACCAA 1200
TACTTTCACA AAAAACATTC CATTTCCTTA GTAATCAGAG AGCTGCAAGT 1250 | var(1204):[A:0.06]
TAGAACAGTG TGATACTATC CTTTCAGGAA GTGACTAATA CTAACTCATC 1300 | REPEAT
AGCCAGGCCC CTGCTCAGAT GTCCCTTCCT CCAGGAAGCC CTTCCGGACT 1350
CCGGGGCTGA GTCAGGCGCT CCCCCTGACC CCCATCCCAC GGCTCTCCCG 1400 | var(1390):[T:0.01]
GGATCTCCCA TCCCAGACCT GCCCATTCTG GGTCAGCACT GGGAACGTGT 1450 | var(1436):[T:0.06]
CTGTGTCCCT TACTGAACCG TAAGCTCCGG GAGGACAACA CGGGGCTGTC 1500 | var(1454):[C:0.20]
GTTGGTCACT GCTGTGTCAC CAGCACGGAC TCGCACAGGA CCGGGAAGAG 1550
AGGAAGCGCG TGGGGGGAAT AGGTGTGGAA TAAATGAATG AATGAGGAAA 1600
CTGAAGCCAA GTCAATGTCT GAGTTGGATT CAAACTTAAG TCTCTCCTTA 1650
CTGAGAGGAG GGACCAAGTT GGATCTCCTG CGATCTGTTC TCCACTGAGC 1700
CCTGCCAGGA TTCTGGGCAC ACAGAAGCGC TCAGTAAGGG CTTTGAAACT 1750 | var(1749):[A:0.02]
TAACAGTTTG GGAGCCAGAT CCTCAGGCCA CATCTCTCTC CTCCCACGAC 1800
CTCCGCGGTC CTCCAGAACC ATAGAGAGTT GTACAGAGAT CGCCCTGCTC 1850
TATGCTCTAC TCTCCTGGGG AGCGGGGCCA GAGAGGCCGG AAGTGCTGCG 1900 | Exon 1 | UTR
AGCCCTGGGC CACGCTGGCC GTGCTGGCAG TGGGCCGCCT CGATCCCTCT 1950 | var(1906):[C:0.01] | var(1928):[T:0.01]
GCAGTCTTTC CCTTGAGGCT CCAAGACCAG CAGGTGAGGC CTCGCGGCGC 2000
TGAAACCGTG AGGCCCGGAC CACAGGTGCG GGAGGCGGAG ACTGCGGGTG 2050
GAGATTGGCG CCGCGGAAGC CAATCATTGC CGAGTCTGAG AGATGGACAA 2100
GGCCAGGCGT GGGGAGGGCG TCCAGATGCT AGCCTCGGGG GCCGGACGAA 2150 | var(2137):[T:0.01] | var(2148):[T:0.20]
CGGAAGGCGG GGGATGGTGG GGACGGAGCC AATAGAATCC GGTGGGGGCG 2200
AGGGGCGGAG CGATGGGACT TGTGGACCTG TAAGGGGCGG GGCGAGCCGA 2250
AGGTGGAGGT CAAAGGGGCG TGGCGTTACA GAGCCTCTAG CGCTGGGTGT 2300 | var(2289):[G:0.03]
TGGGGACCTG ACGCTATGGA GCTCTCGGAG TTTTGTGGGG GACGGCTGTG 2350
AGTGGGGGGG TTCCTGCTGC GGGATGAGAA CGTAGACGCC AGTGGCTCAC 2400 | var(2354):[-:0.96]
TCGCTCCTGG CACCTTCCCT TTCAGGCTCC AGA
TGGACCC TGGGAAGGAC 2450
                                    M  D  P   G  K  D  6
AAAGAGGGGG TGCCCCAGCC CTCAGGGCCG CCAGCAAGGA AGAAATTTGT 2500
 K  E  G   V  P  Q  P   S  G  P   P  A  R   K  K  F  V 23
GATACCCCTC GACGAGGATG AGGTCCCTCC TGGAGTGGTA GGACAAGGAG 2550
  I  P  L   D  E  D   E  V  P  P   G  V                35
ATGCGGGGCC CCTGGGAGGC TGGGGGCTGT TAGGACGAAG AGGATAGGAT 2600
GGGGCCTGTG GGACCAGGGT GTGGGTTAGT GGATTTGGGG GCCACGGACG 2650 | var(2646):[A:0.01] | REPEAT
ACTTGGGGAA ACAGTCCTTG GTCCTCCCCA GGTCCCAGTT TCCCCATCTG 2700 | var(2698):[G:0.01]
TGAAATGGAT GGGTGGTTCT AAGAGAGGGC TAAGGCAGAG GCCAGACACT 2750
GGCATTCAGC AGGTAGCCCC TGATGTGTTT TACGAGGCCA GCACCCTGAT 2800 | var(2794):[T:0.02]
TTTTCAAGAC ATGAATTTAT TGCTCGTGTT TAAGAATCGC CAGGTTTTGC 2850
AATCTTAAAA AAATCTACAC TTTAGACATA TTTTGGTAAA TGGAAGGACC 2900
TGGCAATATT GAAATCTCCT TCCCAAGGGA AAACAATCGA CGGGTGATGA 2950 | var(2942):[A:0.01] | REPEAT
GCATTGGCTA TGAAGAAAAG GAAAGTGGGC TAAGGATGTA GGGCATGATG 3000
GGGGAGAGGA CCTTCCTACT CTATTTATTT ATTTATTTAT TTATTTTTTT 3050 | REPEAT
GAGACAGAGT CTCGCTCTTT TGCCCAGGCT GGAGTGCACT GGCACCATCT 3100
CGGCTCACTG CAACCTCTGC CTCCTGGGTT CAAGCGATTC TCCTGCCTCA 3150
GCCTCCCGAG TAACTGGGAT TACAGGAGCG CGCCTGGCTA ATTTTTGTAT 3200 | var(3157):[A:0.01]
TTTTAGTAGA GACGGGTTTC ACCATGTTGG TCAGGCTGGT CTCGAACCTC 3250 | var(3243):[T:0.01]
AAGTGATCCG CCCACCTCGG CCTCCCAAAG TGCTGGGATG TACAGGCATG 3300
AGCCACCATG CCTGGCCCCT TCCTACTTTA GATAGGAAGG TCAAGGGAGG 3350 | REPEAT | NOT SCANNED
GCCTCTCTGA GGAGGTGACA TCTTGGTAGA GACGTGAAAG AGGTGAGGGA 3400
GTGAGCCATG GCGACATCTG GGGTAGAGGG AACAGCCAGT GCCAAAGCCC 3450
TGAGGTCAGA GAGAGCCTGC CGTGTTCAAG GGCAGAACGA AGTCTGGTGG 3500
GGCTGGAGTA GAGAAAGCAA GGAGAAGTGG TAGAAGGTGT AGTTTCTGAG 3550
GCAAGGAGCA GGGACAGATC TAGAGCCTTG TGGGTGATGG TGACAGCTTT 3600
GGCTTTCACT CTGAGGCAGG AGCCACCCAC CAGCTCTGAG CAGAGGAGGG 3650
ACATGAGGAC TTAGTTAGGG GACAGACTTC CAGGGGGCGA GGGTGTGGGC 3700
AAGGAGCTGG TGAGGAAGTG ACTTCAGTGG TCCAAGGGTG AAACGCTGGT 3750
GGCTGGGACC AGAGTGGAGG CTGAGGAGTG GGGGAGAAGT GGCTGAATTC 3800
AGATTTTGA
G CTCTCAGCCT TCTGGAAGGG ACATTAGGAG GAAGGAGGAT 3850
GGGCAGCCCT GAAGAGGGGA GAGGGGTCAA GTGCTGTGGC TCACACCTGT 3900 | REPEAT
AATCCCAGGA CTTTGGGAGG CCGAGGCGGG CGGATCACCT GAGGTCAGGA 3950 | var(3923):[-:0.01]
GTTCGAGATC AGCCTGGACA ACATGTTGAA ACCCTGTCTC TACTAAAAAT 4000
ACAAAAATTA GCCAGCGTGG TGGTACACGC CTGTAGTCCC AGCTATTTGG 4050 | var(4016):[T:0.01] | var(4020):[A:0.01] | var(4028):[T:0.01]
GAGGCTGAGA CAGGAGAATC GCTTGAACCT GGGGGGCGGA GGTTGCAGTG 4100
AGCCGAGATC ACGCCACTGC ACTCCAGCCT GGGTGACAGA GCAAGACTCC 4150
ATCTCAAAAA AAAAAAAAAA AAATTAGCTG GGCGTGGTGG TGGGCACCTG 4200 | NOT SCANNED | REPEAT
TAATCCCAGC TACTTGGGAA GCTGAGGCAG AATTGCTTGA ACCCGGGAGG 4250
TGGAGGTTGC AATGAGCCAA GATAGTGCCA CTACACTCCA GTCTGGGTGA 4300
CAGAGCAAGA CTGTCTCAAA AAAAGAAAAA GAAA
GGGGAG AGGAACTCAC 4350
AGGGCCTCAG ATGTCCTCTG CTCACCCCAA CCAGTCCCCT GCAAACTCCC 4400
TTTCTCCCCA CAGGCCAAGC CCTTATTCCG ATCTACACAG AGCCTTCCCA 4450 | Exon 2
               A  K   P  L  F  R   S  T  Q   S  L  P   47
CTGTGGACAC CTCGGCCCAG GCGGCCCCTC AGACCTACGC CGAATATGCC 4500
T  V  D  T   S  A  Q   A  A  P   Q  T  Y  A   E  Y  A  64
ATCTCACAGC CTCT
GGAAGG GGCTGGGGCC ACGTGCCCCA CAGGGTCAGA 4550 | var(4533):[A:0.03]
 I  S  Q   P  L  E  G   A  G  A   T  C  P   T  G  S  E 81
GCCCCTGGCA GGAGAGACGC CCAACCAGGC CCTGAAACCC GGGGCAAAAT 4600
  P  L  A   G  E  T   P  N  Q  A   L  K  P   G  A  K   97
CCAACAGCAT CATTGTGAGC CCTCGGCAGG TGAGGAGGGA GACGGAGAAG 4650
S  N  S  I   I  V  S   P  R  Q                         107
TGAGGCCTTG AGGTTTTCAG TGGGAAACGC TGTTCTAGGG ATGACTCCAG 4700
TGGAAGGAGG TCTGAGTTCC AGCCACTTTG TTCTCCCCAT TCATTCATTC 4750 | var(4703):[C:0.38] | var(4743):[-:0.03]
ATTCATTCAT TCATTCGACA GCAGTGTGTG GGTTGAGAGT GCCCCAGCTC 4800
TACTTGCTGG GGCTGTGGCT GTATTGGTGT AGCTCTGTTT CCTCACCCCA 4850
GGTTTGTTAA TTTATTCAAA ATGTACTGAA TGAGGCTGGG TGTGGTGGCT 4900 | REPEAT
CACACCTGTA ATCCCAGCAC TTTGGAGAGG CTGAGGCAGG TGGATCACCT 4950
GAGGTCAGGA GTTCGAGACC AGTCTGGCCA ATATGGTGAC ACCCCATCTC 5000 | var(4979):[G:0.35]
TACTAAAAAC ACAAAAAGTT GCTGGGCGTG AGGGCAGGAA GTGTTCAGGA 5050 | var(5027):[T:0.06]
CCACAGGACA CGCAGACTGG GGCTGGAGGG AGAGGGCTGA GCTGGAGACA 5100 | var(5051):[T:0.01]
GACCCGGGGA CCCTTTAGGA AAGGCCTGGT GCCAGTGGGC ATGGAGGGGA 5150 | var(5106):[T:0.04]
GGAGCCTGGA TCAGAGGATC AGGGACTGTC CAGGGTTAGG AGGAGAGAGA 5200
AGCTGGAAAA GACCCTGCCA CAGGTGGGAG GAGGGAGGAG GTGTGGGAAG 5250
AGGTGCGAGG AGGCAGGAGG TGTGGGAAGA GGTGGGAGGA GGGAGGAGGT 5300
GCAAGAAGAG GTGGAGGAGG GCCCTGTGGT TATCAAGGGT CATCCCTATT 5350
GATGGCTTCT GCCCTTCGTC CCTCCCCAGA GGGGCAATCC CGTACTGAAG 5400 | Exon 3
                                 R  G  N  P   V  L  K  114
TTCGTGCGCA ACGTGCCCTG GGAATTTGGC GACGTAATTC CCGACTATGT 5450 | var(5412):[T:0.36]
 F  V  R   N  V  P  W   E  F  G   D  V  I   P  D  Y  V 131
GCTGGGCCAG AGCACCTGTG CCCTGTTCCT CAGGTGAGCT CTGCGGCGCC 5500
  L  G  Q   S  T  C   A  L  F  L   S                   142
ACCCCAGACT TCAGGAAGGG CACCCCACTG GCCTGGGAGG GTCATGTCCC 5550 | var(5518):[C:0.01]
AGTGTTCTGG ACTGTTCTAT GAGAAGCCTC TGGGCATGGT CCTGCAGGTT 5600 | var(5569):[G:0.29]
CTGGGCCTTG GTGGGACCCT GTGTTGGAGG CAGGGGGTCT TGGCCTGGAG 5650 | NOT SCANNED
GTGCCCAGTG CAACAAGAGC TGGAGCCCGA ACTCCTGGGT CTCAGGAAGG 5700 | REPEAT
AGGGGCTGGG GGCCGGACTC CTGGGTCCGG GGGAGGAGGG GCTGAGGGCT 5750 | var(5728):[T:0.01]
GGACTCCTGG GGATCTGAGG GAGGAGGGGC TGGGGCCTAG ACTCCTGGGT 5800
CTGAGGCAGG AGGGGCTGGG GGCCTGGACT CCTGGGGTCT CAGGGAGGAG 5850
GGGCTGGGGG CCTGGACTCC TGGGGTCTCA GGGAGGAGGG GCTGGGGGCC 5900
TGGACTCCTG GGTCTAAGGG AGGAGGGGCT GGGGCCAGAT TCCTGGGTCT 5950
AAGGGAGGAG GGGCTGGGCC CAGACTCCTG GATCTGACGG AGGAGGGACT 6000
GGG
TCACTCA TGTCCCAGAC ATCCTTGACT GGAGTTGATG AGAAGCAGGA 6050
TTTCTCCCAT CTCTACCCTA GTTAAACAAC TTTCCCCTCC AACCTAGGGG 6100
CCCCTCTGCA GACAGGGCCA GACAGAGGAA GTGAAACCTC TGAGTTCCTG 6150
TGCTCCCTGC AGGCTGTGAC AGCTGCAGAC TGCTGGGCAG AGCCAGTCCT 6200
AGTTCCCTGG GTCATGAAGC CCTCACCGTA GCCCTCCAAG GCCAGAGCAG 6250 | var(6201):[G:0.01] | var(6227):[T:0.03]
ATGGTTTGGC AGTGGGCCCT GCTTCCCACC GCGAGCCATG CAGTGTCCCC 6300 | var(6288):[-:0.01] | var(6293):[A:0.01]
GTGCCCACAC TCTCTAGGGC CCCTGGCACC TGTTCTCCCC TTGAAGCCCA 6350
AGTCTCTTCC CCTCTTCATG AAGAAGCCAG GGGTCTGGTC TTCTAGGTAA 6400
GCACAGCCAT GTGGCCCTGG CTGCCAATCC CTGCGGAGCA TCTTCTTGGA 6450 | REPEAT
AGAGTGACCT GGGGCAAGTG ACTTACCCTC TGTGGGCCTC AGGACCCTCT 6500
GTCCCCCATG CCGTACTCTG AGCCCTTAGT ATTCCAGTGA GAGGGAAAAG 6550
GGCTTTGGGG GTCTTGAAGA GACTGAGACC TCTCAACTCC CGCTCCCTGC 6600
CCCCACCAGC CTCCGCTACC ACAACCTGCA CCCAGACTAC ATCCATGGGC 6650 | Exon 4
            L  R  Y   H  N  L  H   P  D  Y   I  H  G   155
GGCTGCAGAG CCTGGGGAAG AACTTCGCCT TGCGGGTCCT GCTTGTCCAG 6700
R  L  Q  S   L  G  K   N  F  A   L  R  V  L   L  V  Q  172
GTGGATGTGG TAAGCAGGGG CTGCTCCCTA GCCAGCCTCA CCGGGCTTTG 6750 | var(6742):[A:0.26]
 V  D  V                                               175
AGGTTGTGCA GTGGGCTGTT GAATCCCTTC CAAGAGGAAA TGCAGCTAAA 6800
ACCTCAGCGA GGAACGTTTT TCACATCTGA GATGACATGG GTCACCAAGA 6850
CATTATGTTG GCAAGGAGAG GGGAGGGCAA AATTGTCTAT TTCCTCTTTC 6900
CCCACATCCC CTTCAATTAG TCCCAGATCT CTGCCACCTA AATATCTCTT 6950 | REPEAT
CTTTTTGTTT TGTGTTTGTT TGTTTGTTTG TTTGAGACGG AGTTTCGCTC 7000
TTGTTGCCCA GGCTGGAGTG CAATGACTTG ATCTTGGCTC ACTGCAGCCT 7050
TCACCTCTGG GGTTCAAGCG ATTCTCCTGC CTCAGCCTTC TGAGTAGCTG 7100
GGATTATAGG CATGCACCAC CACGCCCGGC TGATTTTTGT ATTTTTAGTA 7150
GAGACTGGTT TTCACCATGT TGGCCAGGCT GGTCTTGAAC TCCTGACCTC 7200
AGGTGATCCA CCCACCTCAG CCTCCCAAAG GCTGGGATTA CAGGCATGAG 7250
CCACCGTGCC TGGCCATATC TCTCTCTTTT ATTTTTTTAA GACGGAGTCT 7300 | var(7262):[A:0.02] | var(7268):[C:0.03] | REPEAT
CCTCTGTCGC CCAGGCTGGA GTGCAATGGC CAGATCTTAG CCCACTGCAA 7350
CCTCTGCCTC CTGGGTTCAA ACGATTCTCC TGCCTCAGCC TCTCGAGCAA 7400
CTGGGATGAC ACCATGCCTT GCTAATTTTT ATTGATTGAT TGATTGATTG 7450
ATTGTTTTGA GACAGAGTCT CGCTCTTTCG CCCAGACTGG AGTGTAGTGG 7500 | REPEAT
TGCAATCTTG GCTCACTGCA ACCTCCACCT CCTGGATTCA GGTGATTCTC 7550
CTGACTCAGC CTCCTGAATA GCTGGGATTA CAGGTGCGTA CCACCATGAC 7600
CGGCTAATTT TTTGTATTTT TAGTAGAGAT GCGGTTTCAC CATGTTGGTC 7650
AGGCTGGTCT TGAACTTCTG ATCTCAGGTG ATCCTAAAGT GTTGGGATTA 7700
CAGGTGTGAG CCACCCCCAC CAGGTGATTT TTTTTTTTAA TTTTTAGAGA 7750 | REPEAT | NOT SCANNED
CAGGGTCTTG CTATGTTACC CAGTCTGGTC TTGAACTCCT GGCCTCAAGC 7800
ATTCCTC
TTC CATTGGGTTG GGTGCAGTGG CTCATGCCTG TAATCCTAGC 7850 | REPEAT
TCTTTGAGAG GCTGAGGCAG GAGGATCACT TGAGGCCAAG AGTTCGAGAC 7900
TAGTCTGGGC AACATAGTGA AGACCCCCAT CTCTACAAAA TACAAAAAAT 7950
ATGGTGGTGG GCACCTATAG TCCCAGCTAC TCAGGAGGCT GAGGCAGGAG 8000
AATTGCTTGA ACCCGGGAGG TGGAGGTTGC AATGAGCCAA GATCATGTCA 8050
CTGCACTCCA GCCTGGGCAA CAGAGCGAGA CTCCGTCTGA AAAAAATTAA 8100
AAAGATCATA AAA
CTCACAT GGCTCCTAAG CACCCTAGGA GAAAGTTCTG 8150
CTCCCTTCCA TGACCTATGG GGCCCTGTGT GACCTCCAAC CTCTACCCAG 8200
TTCTCCAGGC CCGTCTCTAA GATTCCATGC TCCTCATGGA ATTTCACATC 8250
CTCTCTCCCG TAGGGAGCGA ATTATAATTC CTCAAGCCCT CTTTCCCCTC 8300 | var(8269):[A:0.26] | REPEAT
CCATCCTTTG CCCATGCTGT TCTTTATGTC TGGAATTCCC TTTTCTGGTC 8350
TCCTTTTCAT CCTTTCCTCC TCCTCATCCT CCTTTGGGTC TCAGCTCTAA 8400
TGTCCCCTCC TCCAAGAAGC CCTCCCTGAT CCCCCAGGCA GGCTCAGTCC 8450
CTCCTCTGGC TCCCACATCG CAGCCCTGGC CACTCCAGAT CATCAGTGTC 8500 | var(8485):[T:0.13]
TGGGGACAGG TCTGTCCTGC TCATCAGACT GTGAGCCCTG GGAGGGCAGA 8550
GTCAGGGCTG TCTCAGCCAC TGCTGGGTCC TAGCACTGCT TAGCACGGGC 8600
CAGGCACCCA GTAGGAGCTT AGAGAGTGAC AATTGGGTGA GAGGCTCTTG 8650
GCATCCTGAG CTACTGTGTT TTCAGGCTTT AATTCTTTTT TTGTTCTTCT 8700 | var(8672):[C:0.01] | REPEAT
TTTTTTTTTT GAGACAGAGT CTCACCCTGT CGCCCAGGTT GGAGTGCAGT 8750
GGCGCGATCT TGGCTCACTG CAACGTCTGC CTCCCGGGTT CAAGCAGTTC 8800
CCCCACCTCA GCTTCCCTAG TAGCTGGGAT TACAGGCACC TGCCACCACG 8850 | var(8801):[T:0.33]
CCTGGCTAAT TTTTGTAATT CCTGGCTTCT AGGTTTCTAA TTCTGATTTT 8900
CTCCTCCAGA AAGATCCCCA GCAGGCCCTC AAGGAGCTGG CTAAGATGTG 8950 | Exon 5
           K  D  P  Q   Q  A  L   K  E  L   A  K  M  C 189
TATCCTGGCC GACTGCACAT TGATCCTCGC CTGGAGGTGA GATGAGGGCT 9000 | NOT SCANNED
  I  L  A   D  C  T   L  I  L  A   W  S                201
TCCCTGCCTC ATTCAGGCTC CACCTGGGAT TGGTCCCTGC TCCCCCATCC 9050
CACCCTGCCC AGCCCTTCCC TTCTCCTTCC TGTGTGGGCC TGGTGCAGGC 9100 | REPEAT
ACTGCCTCTC TCTGGCCTTC AGTTTCCTCA TCTGTAAAAC AAGGTCTTAA 9150
TTTTTTTTTT TTTTTTTTTG ATACAGAGCC TCACTCTGTC CCCTAG
GCTG 9200 | REPEAT
AAGTGCAGTG GCACGATCTC GGCTCTGCCT TGGGGGTTCA AGCAATTCTG 9250
CCTCAGCCTC CCAAGTAGCT GGGATTACAG GTGTGCACCA CCACGCCCAG 9300 | var(9262):[G:0.01]
CTAATTTTTT TGTATTTTTA GTAGGGACGG GTTTTGCCAT GTTGGCCAGG 9350
CTGGTCTTGA AATCCTGACC TCAGGTGATC CTCCCGCCTT ACCCTCCCAA 9400
AGTGCTGGGA TTACAGGCGT GAGCCACTGT GCCCGGTTGG AAGCTGAACA 9450 | REPEAT
TTTCATGAGG TTGGCTTCTT GCTGCAGCGG GAAAATAAGC AGTGTTTCTG 9500
GTTTTCCTCC TGTCAAACCC AGTACAAACA CTTTGTGTGC TGACTTCCCT 9550
TCCAAAATAG CTAACATTTC TTCAGCAGTG CCAGGCGTGG CTTTTGGCAC 9600 | REPEAT
TTACAGAGCA TTCCAGAGTA TTCTCTGATC TTCAAAGTCA TACCATCCTC 9650
CCCACTTTAT TATTATTTTT TTGAGACAGG GTCTTGCTCT TTTGCTGAGG 9700 | REPEAT
CTGGAGTGCA GTGGTGCTAT CACAGGTTAC TGAAGCCTCA ACTTGACAGG 9750
CTCAGGCAGT CCTCCTGCCT CAGCCTCCCG AGCAGCTGAG ACTAAAGGCA 9800 | var(9775):[T:0.31]
CGCGCCACCA CACCTGGCTA ATTTTTAATT TTTTGTGGAG ACAACACCTT 9850
GCTATGTTGT CCCGGCTGGT CTTGAACTCC TGAGCTCAAG TGATCCTCCT 9900 | var(9863):[T:0.01]
GCCTCAGCCT CCCAAAGTGC TGGGATTACA AGCATGAGCC ACTATGCCTG 9950
ACCACCCCAC TTTACAGTGA GGAAACAGGC CCAGAGAGCA AACCACTGGC 10000 | REPEAT
CCAGGGTTAC CCAGGGAGAA GTGGGGTTGG GCTCCCAAGA GCTGGCCTGT 10050 | NOT SCANNED
AGCCAGAAAA GATATCAAGA TGCGCCCAGC AGTGGTTACT ACCAGGTTGT 10100
ATTTGGCGGG GGATGGGCTG GAATTTTGAT TTTTAGCAAC CACAATTGTT 10150 | REPEAT
TTTTTTTTTT TTTTTTTTTT TGAGACGGAG TCTGGCTCTG TCGCCCAGGC 10200
TGGAGTGCAG TGGCGTGATC TCGGCTCATT GCAAACTCCA CCTCCCGGGT 10250
TCACGCCATT CTCATGCCTC AGCCTCCTGA AAAGCTGGGA CTACA
GGCGC 10300
CCGCTACCAC GCCCGGCTAA TTTTTTGTAT TTTTAGTAGA GATGGGGTTT 10350 | var(10304):[T:0.27] | var(10310):[T:0.01] | NOT SCANNED
CACCATGTTA GTCGGGATGG TCTCGATCTC CTGACCTGGT GATCTGCTCA 10400
CCTCGGCCTC CCAAAGTGCT GGGATTATAG GCGTGAGCC
A CCACACCCGG 10450 | var(10405):[A:0.38]
CCTTTTTTTT TTTTTTTTTC TGAAATGGAG TTTCACTCTT GTTGCCCAAG 10500 | REPEAT | NOT SCANNED
CGGGAGTGCA ATGGCGTGAT CTTGGCTCAC TGCAACCTCC GCCTCCCGGG 10550
TTCAGGCGAT TCTCCTGCCT CAGCCTCCTG AGTAGCTGGG ACTACAGGCA 10600
CGCGCCACCA AGCCCAGCTA CTTTTTTGTA TTTTTAGTAG AAACGAGGTT 10650
TCACCATGTT GGCCAGGCTG GTCTCGAACT CCTGACCTCA GATGATCTGC 10700
CTGCCTCATC ATCCCAAAGT GCTGGGATTA CAGGCGTGAG CCACCGCGCC 10750
CGGCC
TAGTA TTGGCAATTC TTATGACTGA CCATAATGAA GCAAATCTAT 10800
AATCTGATAC CTCACCTCCC GGCTGCCCTG TATCCTGTTA TCCCAGCCCC 10850 | Exon 6
                                                    P  202
GAGGAAGCTG GGCGGTACCT GGAGACCTAC AAGGCCTATG AGCAGAAACC 10900
 E  E  A   G  R  Y  L   E  T  Y   K  A  Y   E  Q  K  P 219
AGCGGACCTC CTGATGGAGA AGCTAGAGCA GGACTTCGTC TCCCGG
GTGA 10950
  A  D  L   L  M  E   K  L  E  Q   D  F  V   S  R      234
GGCCACCTCA CCTCCCATCC CTGCCTGGGC CTCCCCGCAG CTCCTGGGTG 11000
GTTGAGCTTC AGTTCCAATT TTAAGGCACT GTCCATTCAT CCCTGGGCCT 11050
CGTCTTTCCT GGCCCATCCC ACCGAAACTG CAGCTAGAGG GGTTTTCCTG 11100 | REPEAT
AGCACAAATC TGCTGCTACC CTCCCTAGCT CAAAATCCTC CCATGGCTCC 11150
CCAGTACCCC GAGAGAAAGC CCAGACTTCT CACCAGGCTC AACAAGGGCC 11200
CGTCAGGCTC AGAAGCCCCG TGGCCTCCAC TTCACACTTC ACTTCTCCCA 11250 | NOT SCANNED
GGCCTAGCTC GCTTCTCCAA GCACTTGCCC CTTCTGTTCC
CTCTGCCCAA 11300
TTACCTGCCT AATTCCTTTT TTTTTTTTTT GAGATGGAGT CTCACTCTCT 11350 | REPEAT
TGCCCAGGCT GGAGTGCAAT GACATGATCT CGGCTCACTG CAACCTCTGC 11400
CTCCCAGGTT CAAGTGATTC TCCTGCCTGA GCCTCCTGAG TAGCTGGGAC 11450
TACAGGTGCC CACAACCATG CCTGTCTAAT TTTTGTATTT TTTAGTAAAG 11500 | var(11476):[T:0.01]
ATGGGGTTTC AGTGTGTTGG CCAGGCTGGT CTTGAACTCC TGGCCTCAGG 11550
TGATCCTCCC GCCTCGGCCT CGAAAGTGCT GGGATTATTA GGCATGAGCC 11600
ACCACGCCCA GCCTGAGATG ACTTTTTAAT CAGTTGGGAA AAAAAGCGTT 11650 | REPEAT
TATTGAGTGC TTCCTGCACG CCAGGCAGTC TGGGGACACA GCTGTGACCC 11700
AGCCCTGCCC TCCTAGGCTC AGTCTTGCTG GCCTTTCTTC TTCCGACACA 11750
CTCCTGCCTC CACCCTTTCC AGGTGACTGA ATGTCTGACC ACCGTGAAGT 11800 | Exon 7
                         V  T  E   C  L  T   T  V  K   243
CAGTCAACAA AACGGACAGT CAGACCCTCC TGACCACATT TGGAGTAAGG 11850
S  V  N  K   T  D  S   Q  T  L   L  T  T  F   G        258
AATGGCTCCC CTGCCCCATA GGCATTTCTG TCCCCTTGCC TTTTTTAGAA 11900
AGCCTGTCAC CCATTTCCTT CCATCTCCCT GCCCACCCCT TGCCCGTCCT 11950 | var(11939):[A:0.01]
GCCTTCCCAC AGGCCCTCAT CTCCCCTGGG GAATATCTGA GGCCCCTCCT 12000
CAGCTGGGAC AGGGGAGGCT TTTGTGCTCA ACTGCCCTGA CCCCTCGCTT 12050
TCACCTTTCA GTCTCTGGAA CAGCTCATCG CCGCATCAAG AGAAGATCTG 12100 | Exon 8 | var(12079):[T:0.01] | var(12083):[A:0.01]
             S  L  E   Q  L  I   A  A  S  R   E  D  L  271
GCCTTATGCC CAGGCCTGGG CCCTCAGAAA GTAAGAGCTC TGGGAAAGAA 12150
 A  L  C   P  G  L  G   P  Q  K                        281
CCCAAGGAGT TGGGGGAAGG AGAGAGCCCC AAATAAACAC AACCTGAGAC 12200
CCCAAAGTTT TAAGGTGAAA AAAGAACCAA AGACCAGACA CAGTGGCTTC 12250 | REPEAT
CGCCTGTAAT CCCAACATTT TGGGAGGCCA AGGCGGGAGG ACTGCTTGAG 12300
GCCAGAAGTT GGAGACCAGC CTGGGCAAGT GGACACCTCA TTTTTACTAA 12350
AAATAAAAAA AACTAGCTGG GCATGGTGGT GTGAGCTTGC TACGTGCCTG 12400
TAGTCTCAGC TACTGGGGAG ACTGAGGTGG GAGGATCGCT TGAGCCCAGG 12450
AGGTTGAGGC TGCAGTGAGC TATAAGCATG TTACTACGCT CCAGCCTGGG 12500 | var(12478):[G:0.28] | var(12488):[A:0.01]
TGACAGAGCG ATCCTGTCTC AAAGCAGAAG CAATCCAATG AGGAAGAATG 12550 | REPEAT
AAACTAGATA GCTATCTCTC GCCATATACA AAAATCAAAT TAAAATGGAT 12600
TACAGACTTA AATCTAAGAC CTCAATGCAT GAAACGTCTA CAAGAAAACA 12650 | var(12624):[C:0.29]
TTGAGAAGCT CTCCAGGACA TTGAACTGGG CAGAGATTTC TTGAGTAATG 12700
CCCTATAAGC ATAGGAAACT AAAGCAAAAT GGACAAATGG GATCACATCA 12750 | NOT SCANNED
AATTAAAAAG CTTCTAAGCC AGGTGCGGTG GCTTGGGCCT GTAATCCCAG 12800 | REPEAT
CACTTTGAGA GGCTGAGGCG GCTGGATCAC CTGAGGTCAG GAGTTTGGGA 12850
CCAGCCTGGC CAACATGGAG ACACCCCATC TTTACTAAAA ATACAAAAAA 12900
GTAGCCAGGT ATGGTGGCAC ATGCCTGTAA TCCCAGCTAC TTGGAAGGCT 12950
GAGGCAGGAC AATCGTTTGA ACCCGGGAGG TGGAGGTTGC AGTGAGCCAA 13000
GATAGCGCCA TTGCACTCCA GCCTGGACAA TAAGAGTGAA ACTCTATCTC 13050
AAAAATTAAA A
AAAAAAAAA AGAATAAAAG GCTTCTGCAC AGCAAACATT 13100 | NOT SCANNED | REPEAT
CCACAAAGTG AAGAGACAAC ACACAGGATG GGAGAAAATA TCTGCAAACT 13150
AACCATCTGA CAAGGAATCA ATAATCAGAA GATAAGAGTT CTAACAACTC 13200
TA
TAGGATAA AATATAATAA TCCAATCAAA AAGTGGGCAA AATATTTGAA 13250
TTAACATTTC TCAAAAGACA TACAAATGGC AAGCAGGCAT ATGAAAAGGT 13300 | NOT SCANNED
GCTCAGCATC ATTGATCATC AGAAAAATGC AAATCAAAAC TACAGTGAGG 13350 | REPEAT
CTGGGTGCAG TGGCTCATGC CTGTAATCCC AGCACTTTGG GAGGCCGAGG 13400
CGGGCAGATC ACTTGAGGCC AGGAGTTCAA GATCAGCCTG GCCAACATGG 13450
CGAAACCCCA TCTCTACTAA AAATATAAAA ATTAGTTGGG TGTGGTGGCG 13500
CATGCTTGTA ATCCCAGCTA CTTGAGTGGC TGAGGCAGGA GAATCTCTTG 13550
AACCCGGGAG ACGGAGGTTG CAGTGAGCTG AAATCACACC ACTGCCCTCC 13600
AGCCTGGACA ACAGAAGCAA AACTCCATCT CAAAAAAAAC CAAAAA
TAGG 13650 | REPEAT
CCGGGCATGG TTGCTCACGC CTGTAATCCC AACACTTTGG GAGGCCGAGG 13700
CGGGTGGATC GTGAGGTCAG GAGATTGAGA CCATCATGGC TAACATGGTG 13750
AAACCCCGTC TCTACTAAAA ATACAAAAAA AAATTAGCTG GGTGTGGTGG 13800
TGGGCACCTG TAGTCCCAGC TACTCGGGAG GCTGAGGCAG GAGAATGGCA 13850
TGAACCTGGG AGGCAGAGCT TGCAGTGAGC CGAGATCATA CCACTGCACT 13900
CCAGCCTGGG TGACAGAGTG AGACTCCATC TCAAAAAAGA AAACCAAAAA 13950
CCAAAAATAA ACTATAATGA GATACCATCT CAGCTCTATT AAAATGGCTT 14000 | REPEAT | REPEAT
ATTATT
ATTT TTTGAGATGG AGTCTCACTC TGTTGCCCAG GCTGGAGTGC 14050 | var(14027):[G:0.29]
AATGGCATGA TCTCAGCTCA CTGCAACCTC CGTCTCCTGG ATCCAAGCGA 14100
TTCTCCTGCC TCAGCCTCCT GAGTAGATGG GATTACAGGC ACTCGCTACC 14150
ATGCCCAGCT AGTTTTTGTA TTTTTAGTAG AGATGGGGTT TCCCTAGGTT 14200
GGTCAGGCTG GTCTTGAACT CCTGACCTCT GGTGATCCAC CCACCTCGGT 14250
CTCCCAAAGT GCCGGGATTA CAGGTGTGAG CCATGGTGCC CGGCCTTAAA 14300 | REPEAT
ATGGCTTTTA TCCAAAGGAC AGGCAATAAC AAATGGTGGA CAGGCAATAA 14350 | var(14340):[-:0.62] | NOT SCANNED
CAAATGGTGG C
GAGGATGTG AAGAAAAGGG AACCCTCATA TACTTTTGAT 14400
GGGAATGTAA ATCAGTACAA CCACTATGGA AAACAGTTTG GAGGCTCCTC 14450
TAAAAACTGA AAAGTTGAGG TTCCACATGA TCCAGCAATC CCACTGCTGG 14500
GTATATCCCC AAAAAAAGGA AATCAGTGTA TGGAACAGGT ATCTGCACTC 14550
CTGTTTGTTG CAGCACAGTT CACATTGCCA AAACTTAGAA CCAACCTGTG 14600
TCCATCAGCA GATGACCAGG CAAAGAAAAT GTGGTACTTA CACACAATGG 14650
ATACTCTTCA GCCATAAAAA AGAATGAGAT CCTGGCTGGG CGCGGTGGCT 14700 | REPEAT
CACACCTCTA ATCCCAGCAC TTTGGGAGGC CGAGGCGGGC AGATCACTTG 14750
AGGCCAGAAG TTCAAGACCA GCCTGGCCAA CGTGGTGAAA CCTTGTCTCT 14800
ACTAAAAATG AAAAAATGAG CTGGGTGTGG TGGCGCGTGC CTGTAATCAC 14850
AACTACTTGG GAGGCTGAGG CAGGAGAATC GCTTGAATCC GGGAGGCGGA 14900
GGTTGCAGTG AGCCAAGATT GTGCCACTGC ACTCCAGCCT GGGCGACAGA 14950
GCGAGACCC
T TTTCAAAACA AAACAAAACA AAACAAAAAA AACATGAGAT 15000 | REPEAT
CCTGTCAATT ACAACATAAT GAACTGGGGA TTATTATGTT AAGTGAAATA 15050
AGCCAGGCAC AGAAAGACAA ACATTGCATG TTCT
TATTTA TTTGTGTATC 15100 | var(15078):[G:0.28]
TAAAAATCAA AACAATTGAA CTCATGGAGA TAAGAGTGGA TGGATAGTTC 15150 | var(15133):[-:0.15]
CTGGAGGCTG GGGAGGGTAG TTAGGGGCTG GCAGGGAGAT GGGGAAGGTT 15200 | NOT SCANNED
AATGGGTAC
C ACACACACAC ACACACACAC ACACACACAC AAAGAAAGAA 15250 | REPEAT
TGAATAAGAC ATACTATTTG ATAACACAAC CAGGTGACTA TAGTCAATAA 15300
TAATGGTACA TTTTAAAATA ACTTGGCAGG GTGCGGTGGC TCACACCTGT 15350 | REPEAT
TATCCTAGCA CTTTGGGAGG TCAAGGCAGG TGGATCACGA GGTCAGGAGT 15400
TCGAGACCAG CCTGGCCAAT ATGGTGAAAC CCCTGTCTCT ACTAAAAATA 15450
CAAAAATTAG CCGGGTATAG TGGTGGGCAC CTTTAGGCCC AGCTACTCGG 15500
GAGGCTGAGG CAGGAGAATC GTTGGAACCC AGGAGGCGGA GGTTGCAGTG 15550
AGCCAAGATC ACACCACTGC ACTCCAGCCT GGGTGACACC AGGAGACTGT 15600
CTCAAAAAAA TAATAATAA
C TTAGCCAGGC GCAGTGGCTC ACACCTATAA 15650 | REPEAT
TCCCAGCACT GGGAGGCTGA GGCAGGCGCA TCAGGAGGTC AGGAGATCGA 15700
GACCATCCTG GCTAACGTGG TGAAACCCCA TCTCTACTAA AAAAAAATAC 15750
AAAAAATTAG CTGGGCAGGG GCCTGTAGTC CCAGCTACTC AGGAGGCTGA 15800
GGCAGGAGAA TGGCGTGAAC CCGGGAGGCG GAGCTTGCAG TGAGCCGAGA 15850
TTGCGCCACT GCACTCCAAC CTGGGCGACA GAGCGAGACT CCATCTCAA
A 15900
AAAAAAAAAA ATAATAATAA TAATAATAAC TTAAAAAGAT TGTAACTGGA 15950 | REPEAT
TTGTTTGTAA CTCAATGGAT AGATGCTTGA GGGTATAGGG GAAAATAAAG 16000 | var(15972):[A:0.42] | var(15979):[C:0.15]
AACCAAAACC CCACTCTAGA TTTACCCAGG AAACAGCTCC TTTAATGACT 16050
GGTTCCTCAT TTTTTTCTCC CTCCCATCCA GGCCCGGAGG CTGTTTGATG 16100 | Exon 9
                                   A  R  R   L  F  D   287
TCCTGCACGA GCCCTTCTTG AAAGTACCCT GATGACCCCA GCTGCCAAGG 16150 | UTR
V  L  H  E   P  F  L   K  V  P                         297
AAACCCCCAG TGTAATAATA AATCGTCCTC CCAGGCCAGG CTC
CTGCTGG 16200
CTGCGCTGGT GCAGTCTCTG GGGAGGGATT CTGGGGGTGT CACCTTCTGG 16250
TGGCCCAGGT GGGCACCTTC AGCTTTCTTT AGTTCCTCAG TTTCCCGGGG 16300
GCAGACTACA CAGGCTGCTG CTGCTGCTGC TTCCGCTTCT TGTCCCGGCC 16350 | var(16329):[T:0.27]
TGTGGGAGCC TCCTCCCCAG ACTCTGAATT CAGTGGCGGC CCTGGCATCT 16400
CCTCTTGGGG CACTGTCTCT GGCATCCGGC TTTCCTGACT CTGCTTCTTC 16450
CTCTTCTTGG TGGATCCCGG AGTTGCCCTG GCTTCAGGCT GTCCCTCCCC 16500
TGGCAGTTCA GGCTCTAGTG GCTGAATTGG CTCAGTCACT GTGTGACCTC 16550
TCTCTTTCTT CTTCTTCTTC TTCTTGGTGG ATGTGGGAGC TGCCTGAGGC 16600 | var(16556):[-:0.12]
TCAAGGTCAT CCGGCAGCTC AGGCCCCACC ACCTCTGTCT CTGGCTCCAC 16650 | NOT SCANNED
TGTGGCATCT TGCTGTTTTT CTTTCTTCGT CTTCTTTTTG GGAGCTGCCA 16700 | var(16659):[T:0.32]
GAGCTGCCTG GGCCTGAGGC TTCGCTCCTT CTGGCTGTTG AGGCGCCATG 16750 | var(16722):[C:0.33]
GTCCCCCCTG GGGACTCCAG AGGCTTCATC TCCGGCTCCA CTGGCTCCAT 16800
CGCCTCCGTC CCTGGCTCCA TCATTGCCAT CTGTCCCTTT TCTTTTTTCC 16850
TCTTCTTCGT AGGGGGCAGA GGGATGGCTT CCTCCAGTGG CTCCACCTTC 16900
ACCTGTGGCT GAGACTCAAC TGTCACCCCC TCCTCTGGCT CCATCCCTTC 16950 | var(16921):[C:0.01]
CGTCCCCTTT TGCCTCTTTC TCTTTTTGGT CGGGGACAGG ACTGTGTCTT 17000 | var(16995):[C:0.02]
CTAGAGGCTC AGTGTTAATC TGTTCCTGCT TCACTGTCTT GTCTTCTGGC 17050
TCGAAGGTTT CTTTCCCTTT GGGCTTCTTC CTCTTCTTGG TGGTGGACGG 17100 | var(17063):[G:0.30]
GAACAGCACT CCCAGAGGCT CCAGTGTCTC CACTGTGGGC TCTGTCCCCA 17150
CAGGCCCTGC TGCCTCTGGT TCTTTCAGCT GCTGATTTTT TTTCTTCTTC 17200
TTCTTCCGCA CATCCATTTC TGGCGACCCC AAAGCCATGT CCACCTCCAG 17250
GGCCCCGTGC CCATTCACTG CCTCCTGAGT GACTG