ALOX5AP 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
GCCCTAACCA ATCTTGTAAT AACTC
T
G
T
G
G
T
A
G
T
T
A
A
T
T
T
T
A
T
G
T
C
A
A
A
T
50 |
REPEAT
T
G
A
T
T
G
A
G
C
T
A
A
A
A
A
A
T
G
C
C
C
A
G
G
T
A
G
C
T
G
G
T
A
A
A
A
T
G
T
T
T
T
T
T
T
C
T
G
G
G
100
T
G
T
G
T
T
A
G
G
G
A
G
G
G
T
G
T
T
T
C
T
G
A
A
A
G
A
G
A
T
C
A
G
C
A
C
T
G
G
A
A
T
C
A
G
C
G
G
A
C
150
T
A
A
G
T
A
A
A
G
A
A
T
T
C
C
C
A
C
C
C
T
C
A
C
C
A
A
T
A
T
G
G
T
G
G
G
T
G
T
C
A
T
C
A
A
T
C
C
A
C
200
T
G
A
G
G
G
C
C
T
G
A
A
T
A
G
A
A
C
A
A
A
A
A
G
C
G
G
G
C
A
G
A
A
G
G
G
C
A
A
A
T
T
C
C
C
T
C
T
T
C
250
T
T
C
T
T
G
A
G
C
T
G
G
G
C
C
A
T
C
C
A
T
C
T
T
C
T
C
C
T
G
C
C
C
T
T
G
G
A
C
A
C
T
G
G
A
G
C
C
C
C
300
T
T
G
T
T
C
T
C
C
A
G
C
T
T
T
T
G
G
A
T
T
C
A
G
A
C
T
G
G
G
T
C
T
T
G
C
A
C
C
A
T
T
G
C
C
C
T
C
C
A
350
T
C
T
T
C
T
C
C
T
G
C
C
C
T
T
G
G
A
C
A
C
T
G
G
A
G
C
C
C
C
T
T
G
T
T
C
T
C
C
A
G
C
T
T
T
T
G
G
A
T
400
T
C
A
G
A
C
T
G
G
G
T
C
T
T
G
C
A
C
C
A
T
T
G
C
C
C
T
C
C
T
T
G
A
T
G
C
T
C
A
G
G
C
C
T
T
T
G
A
A
T
450
G
C
A
G
A
C
T
G
G
T
C
T
C
C
A
C
C
A
G
C
A
G
C
T
T
T
T
C
T
G
A
G
T
C
T
C
C
A
G
C
T
T
G
C
A
G
A
T
G
G
500
C
A
A
A
C
C
A
T
G
A
A
A
C
T
T
C
A
T
G
G
T
G
T
C
C
A
T
G
A
G
C
A
T
G
T
G
A
A
C
C
A
A
T
T
T
C
T
A
T
T
550
A
T
A
A
A
T
C
T
G
C
A
A
T
A
T
A
T
A
T
A
T
A
T
G
A
G
G
A
G
A
C
T
T
A
T
T
T
A
T
A
T
A
T
T
G
G
T
T
C
A
600 |
var(589):[C:0.02]
G
T
T
T
C
T
C
T
G
G
A
G
A
G
C
C
T
T
G
G
C
T
A
A
T
A
T
A
AA GTCTATACTC TACAAAGTGC
650
CCTAGGTAC
T
CAGGGAGTAC CCAAGTGTGT CATGACCAGC CCGACAGCCC
700 |
var(660):[G:0.13]
TGGCTGCTGG CTTCCCCGCA CACAACTCTG CACGCTGCCT TCATCAGCCT
750
TTCTCTCTCA GCTGAACCGA GGGCATTGAA G
C
GGGCCTCT GGCACTGTAC
800 |
var(782):[T:0.02]
CTATGAGGGA GCAATATCTT CCCCTACACT GACCTCTTCC GTGCCGAGAT
850
GCAGCCCTCC CTGCTGCCAC TAGTTACAGT GGTCCATGTT CCCTTTCAAA
900
GTGAAGTTTT GATAAAAGCA CCTCTTAACC AATGCCAAAT AGCTAAGTCT
950
GGGACAAAGA TTGCAGGTAT TTTGCATTTT CC
A
TGTAACC TCAGAGGGAT
1000 |
var(983):[T:0.03]
TGCCATTCAC ACTGATCTGA GCTGCAGAAT ACCAGGCAGC CACCTCACCC
1050
ACCCAGCAGG TCCACTCTTA TACTTTCTCA GAAAGCACAG CCACTCTACT
1100
CTTATTCAGT TGAAAAGAAT TTCCAGGAAG GTGTTTCTGC GATTGCCTCA
1150
GAAAAGTCAG TTCCCTTTGG GAATTTCCCT TAGGGATCAT CTGTAACTCC
1200
ATTTCTGCCT TTTACCTGAA TTCTTTGGTT TGGTTTGAAT TCTTTGGTTT
1250
AATTTATGAA TTCCCTTTAT TACTTTTCTC TGAAGAAATG GAGATATCAG
1300
CTGTCCCTCC CCACTGCCAT TTATTCCTTC CTTCATTCAA ACCTTATGTG
1350
GCTGCTACTT ACCGTGTGTT AAGTGTTCAC TTTTTTTCTT GGAATTCAAA
1400
AAAAGAAGGA CAGTATTTGG GGCACAGATC TTTTGGTGTT CTATACATTT
1450
TTTTAAAGTT TCATTTTACA TTTGTGTGTG CGTGTGTGTG TGTGTGTG
A
G
1500 |
REPEAT
A
C
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
A
A
T
C
A
T
T
G
G
C
1550
T
C
A
C
T
G
T
A
G
C
C
T
C
A
A
A
G
T
C
C
T
G
G
G
C
C
C
A
A
G
C
G
A
T
C
T
T
C
C
C
A
C
C
T
C
A
G
C
C
A
1600
C
C
C
A
A
A
A
T
G
C
T
G
G
G
G
T
T
A
C
A
G
G
T
T
T
A
T
G
C
C
A
C
T
C
T
G
T
C
T
G
A
C
C
T
G
A
A
A
G
T
1650
T
T
T
G
G
G
T
T
T
A CTTTCCCTTC TTTCTCTTTG CTGAAGTCAG AGATGATGGC
1700
AGCTTCCAGA TTCTCTGGTG CCTGTGCTGG GCTCGTGCTG GTCATGGTCT
1750
TGGGTCCAGG ATTCATTCTG GAGACTCTCA GGGAAGTTTC CCATGACAAG
1800
GAAATGTAGG AGAGTGTGCT GGCTTTGCGT GCTCCTCTGC CAAGCCCTGC
1850
TTCTCCTGGT GGGACACACT GAACCACAGC CAGGGCATTT TGGTGGTTAG
1900
TTAAAAAAAA AAAAAAAAAA AAAAAAAGGA AGAAGAAGGC ACTGTGTAAT
1950
TGTGCCGGGG ATCTTCAGAA ATTGTAATGA TGAAAGAGTG CAAGCTCTC
A
2000 | Exon 1 |
UTR
C
T
T
C
C
C
C
T
T
C
C
T
G
T
A
C
A
G
G
G
C
A
G
G
T
T
G
T
G
C
A
G
C
T
G
G
A
G
G
C
A
G
A
G
C
A
G
T
C
C
2050 |
var(2050):[T:0.08]
T
C
T
C
T
G
G
G
G
A
G
C
C
T
G
A
A
G
C
A
A
A
C
A
T
G
G
A
T
C
A
A
G
A
A
A
C
T
G
T
A
G
G
C
A
A
T
G
T
T
2100
M D Q E T V G N V 9
G
T
C
C
T
G
T
T
G
G
C
C
A
T
C
G
T
C
A
C
C
C
T
C
A
T
C
A
G
C
G
T
G
G
T
C
C
A
G
A
A
T
G
GTAAGGA
2150
V L L A I V T L I S V V Q N 23
AAGCCCTTCA
A
TCAGGGAAG AACAGAAGGG GAGATTTTCT TTGATGGTTG
2200 |
var(2161):[C:0.42]
TTTGGAAGTC AGGCTTAAAC AATTGTGTCT GTGTGTGCGC ATGCACAAAC
2250
ACTTTTACCT TATCTTTATT TTCTTCTTTT TATTTGAATG TATAGGGTTG
2300
TGTGTATTTC TGTGTAAATT TGGGGTTTTC CTCCTCTTAG TCTTTCACTT
2350
TTGTGGTGAT TACCAGTCCC ATTTTTAGAG CCAGGGCTGC AACTTGAAGG
2400
TTTTGCTAAA ACCCTCACCG AAGTGTCTAT GATCAGCATT TTAACTATTA
2450
ATTAATGTGG CCAGGCAAGG GGTGGAAGGT GAGAAGACTA GAAAGGGAAC
2500
ATGATATACA CATTTACTCA GATACTGGGC TTTTCTAACA TCTGCAGTGC
2550
AATTG
A
AGTT ACCAGTCATC TGCAGTCTAA AAAGAAAGTG ATTTTGGGAG
2600 |
var(2556):[T:0.09]
GTGCGTAGAA AAAATCATCT TATTATTTTT CCTCTATATT ACTTTTTTCT
2650
TTTTTT
T
CTC CTGAAGAAAC TTTTTTTTT
T
GGTGATAC
C
T TCTTTTTCTC
2700 |
var(2657):[:0.98]
|
var(2680):[:0.09]
|
var(2689):[T:0.02]
TAGCACGTAT AATTTTGGAA GCATTTTTCA TATGCAGTGT ATACTTCAGA
2750
AAGAGAGA
G
A GAGAGAGGAA AATTGTCCTG TTCAGC
G
TTT GCATTTCCAT
2800 |
var(2759):[C:0.04]
|
var(2787):[A:0.08]
TATTCCTGCT ATTAGTTAAA
A
A
C
AACAACA ACAACAACA
A
CAAACAAGCA
2850 |
var(2821):[:0.95]
|
var(2840):[C:0.29]
GGATACCTAG ATCTGGAAAA GGGAGAATTG TGTAGAGCTG TCTTCCTAAA
2900
GTTCTGAGTT AGG
A
CTGCCT CAGACCACTT TCATAACTAT CTCCAGTGGC
2950 |
var(2914):[G:0.42]
TTTGTGTTTT ATATTTATTA AGATAGAGAA AAAAAGAGTA ATTACTAAGG
3000
GCAGCTGCTG TAGCTTTATG GTGATTACTG AACATTGACA TGCTGTCAC
G
3050 |
var(3050):[A:0.08]
TTTTTGGAAC TTTGAGTATT TAATCACTTT GGGATATTCT ATTTTCCCCC
3100
ATCTTGAGTG TGGACAGATG CTGGTGAT
G
T AGCCTTCTGG GCACAGAGCA
3150 |
var(3129):[A:0.01]
AGCCTCCCCC TCAGCCTCTG CACCAGAAAG GCTCAGCTTC ACACACTCCA
3200
AGTATGTTTT CTACAAGAAC TACACTTTGT GGCTTTCTGA CCCAAACATT
3250
TTT
A
TACTAA ATTACACACA ACAAA
G
TTGT AGCTCAGAGA GGGAACAAAT
3300 |
var(3254):[G:0.32]
|
var(3276):[A:0.07]
GGCTTA
T
TTA GGCCACCATT TTCTTGAGCC ATTATGATTT CACACAGGGC
3350 |
var(3307):[C:0.07]
TCCCTTGGCC CTGTAAATTG GCAAGG
A
T
T
C
C
A
T
T
A
T
T
C
A
A
C
C
C
G
C
A
T
A
C
A
3400 |
REPEAT
T
G
T
A
C
A
G
A
G
A
C
C
C
T
G
C
T
C
T
G
G
C
C
C
A
G
A
T
A
G
T
A
T
T
C
T
G
G
G
T
A
C
A
G
G
C
G
G
A
T
3450 |
var(3447):[A:0.03]
A
G
A
G
C
A
G
G
A
A
A
C
A
A
A
A
C
A
G
C
T
A
C
A
G
T
GATG GACAGGTCAG CCTGCAGCAA
3500
TGCCTGCAGT CTCTGC
A
AAG GTAGCTGTAT GGGTGGGCAG GTGGCTAGCA
3550 |
var(3517):[G:0.10]
CTTATTCAGC TCTGGAAGGA TCTCCCCTCT GGCCTCTCCC CTGACACCCA
3600
TCAATAAAAC TGAGGAGCAT CGGTGGACAG GGGACCTTGT GCCCCCTCCC
3650
TGCCTGTGCA GTTGGGGCTG AACCCAGC
T
A CGAAGTTTGA GCTCACTCTC
3700 |
var(3679):[C:0.06]
TCCAGCTCCC TCTCAATTCA GAGCTGAACT GTGGGAAGCT TCAGAGCTCT
3750
CTGTTTCAAG GACAGGTTCT CCTCACCTCT CCTAATGGAG GTGCACCAGG
3800
GAACTGGCCC TGCTCTGCCC AGGGCTTTCT CCTGGACTTT GCCATCATGG
3850
TCTAGCAAAC CCTGTTCAGA TTGAGGTGAG TGGTGAGATT TCGAATTCTT
3900
TTTGACAGAT AGGATTAAGT CTTCTTCTGT GGGACAAGTG GGAGGTAGAG
3950
GTAAGATTAA AGATG
G
CCAA ATGTCTGAGT CCTGACAG
C
C ACAATATGGA
4000 |
var(3966):[A:0.01]
|
var(3989):[A:0.02]
GATCTAGACT TTTTACAGAC CACAGGGCAC AGGGGCCTCA CTAACAGAGT
4050
TCCCGGAAGT GATGAGTGTG CTGGGGGCTT CCTGGTTGAA GAGACACTAG
4100
AATGGAC
C
AG CTGGGAGCTA ATTTTTTGGG CTGGAGTGTG ATGGCCTGCA
4150 |
var(4108):[G:0.44]
CATCACTGCC TCTGTCCCTC CATTGTCACA GCTGCCCCTT AGGAGCCAGC
4200
TGAGGCAATT TGTGGTCAGA GTGACTTTGC ACAGTTGTCC TGCCTGTGTT
4250
CAGGAAGGGA GTTTCTGTGG TCCCTTTGAA ACCACAGAAG AGCCCCTCGT
4300
ATAGCTCTCA ATGGAGGGGG CAAAACATTC AAATAACTCA GGAGATAACA
4350
CAACTATTTG TTTTTAACTG TGAGTTTTTA GGCAATCACA AAGATCCAGA
4400
TGTATGTCCA AGCCTCTCTT TGCAATTCTA
A
TTAACCTCA ATGTTGCAAC
4450 |
var(4431):[T:0.42]
CATAGACCTA CCTTACAGAG TTCAAAAAAA TATGCAAAAA CCCTGCCTTT
4500
CTTCTTCCTC AT
A
CCCCAAA ATGCCATTCT GAACATTTCC TGTTAGTTAA
4550 |
var(4513):[T:0.22]
AAAAAGATTT CCATGGTGTT ACCAGGCACT GTACACAGTC TGTGTCCCAA
4600
GACAAGGAGG TACAGTTCCA CATGCGCCCA TGACTGGGTT GGGCTCTGCA
4650
CTCTCTCTAT ACTTTGAGAG CCTGATTTTC TGTGATTGGG CAGAGCTGGC
4700
CCACCTGGTG CAATGTCCTC CTCTGCCTTT CAAACATGTT TTAGTCATCA
4750
AGATCTTCAA ATTTGTAACC CTTTCCAGCT TGATCCAGCA GAATGCAGAT
4800
TTGGAAAAAC AGAACGAGTT TAAAATACAT GATTCTAAGA AA
C
CTGGACC
4850 |
var(4843):[T:0.13]
AGAACTATCA AAACTTGGTT TCCCAGAGAA TAT
A
G
C
A
A
A
T
G
G
G
C
T
C
A
T
T
G
4900 |
REPEAT
G
C
C
A
A
T
A
C
T
A
T
G
A
C
A
T
T
G
G
C
T
T
T
T
G
A
G
A
A
A
A
G
A
A
A
G
G
C
T
T
T
A
T
T
G
C
A
A
G
G
4950
C
T
G
G
C
C
A
G
C
A
A
G
G
A
G
A
C
A
G
G
A
G
T
T
G
G
G
C
T
C
A
A
A
T
C
T
G
T
C
T
C
C
C
C
A
G
T
T
T
G
5000 |
var(4965):[A:0.13]
G
G
G
C
T
T
A
G
G
G
C
A
A
G
T
T
T
T
A
A
TTA
C
ACAGAC GCATTTCTTA TGAGTAGCAG
5050 |
var(5024):[T:0.13]
GCAGAGAGCC TCCAACTTCT TCTGCCTAGG TACCAGCAGC TTAGACATGA
5100
TGCAAACCTG GGAAGCACAT ACTGTATTTG GAGAAAGTGA TTGGGAAGAA
5150
ATGTGAGCTG AGGGGAGGGG CTCAGTGCCC CTGAGCTACA CTTAGTGATG
5200
GCAGAGGAAG GATGTCCTCC CGCAGGAGGC TGTTCCACAT CTGCTCTGGT
5250
TGTAGGGGGA GCTGGCAGGC ATTAGCAGCG GCCTCTTTCC CCCAAGAGAG
5300
GCAGCCTCCT CCAAGTTTTG GCGACATTAT GGCCCTGCAA TCATAAGGGT
5350
TTGTGAGCAT AGTGCTAAGG AGGGAAATGG AGCTGCTGTT ACTAGTTCCA
5400
CCC
C
AACACA CA
C
ACACACA C
A
C
TCACAAG AAACCTCACA AGCACCGTAT
5450 |
var(5404):[T:0.01]
|
var(5413):[T:0.01]
|
var(5422):[:0.92]
TGGAAGACTT TGCCATCCAA CCTGGGATTT GACAGGCTCT AGAAGCAGAA
5500
TCATAGACTC ATGAAGTTCC CCCAAAGCAG GAATCTTCCT TACAGTAACC
5550
CCCAACCACC C
C
CCTCCACC GCCTCCACC
G
GCTGCTTCTT CCTGAACACT
5600 |
var(5562):[G:0.03]
|
var(5580):[A:0.03]
GCAGTGTTTG GAAAACTCAC AAACTTCCAA GCTTGCCTTT CCTATTGTTG
5650
CATGGATTGA AAGCTTGCGT TGTGTGAAGA ATGGCGCTTC CTGCTGTGCT
5700
TAGTTTTATC TCATATAATC TTTGCACCAT TTAATCCTTG CACTCACCCA
5750
CTCATGCAAC TGCCTTTGCA GAGACTGGAG GGGCCGCTGT AGGCTGACCT
5800
TTCCTTC
A
C
T
G
T
A
C
C
T
A
T
T
T
T
G
T
T
C
C
C
T
G
C
T
T
T
A
T
T
C
C
C
C
T
G
C
A
C
C
C
A
G
G
5850 |
REPEAT
A
C
A
C
T
G
C
C
T
G
G
C
A
C
A
A
A
G
A
C
A
G
G
T
C
T
T
T
A
T
A
A
G
T
G
T
A
T
G
C
A
A
G
T
G
A
A
T
A
A
5900
A
GATATATAT A
T
T
A
T
T
A
T
T
G
T
T
A
T
T
T
T
T
G
A
G
A
C
A
G
T
T
T
C
A
C
T
C
T
G
T
C
A
C
C
5950 |
REPEAT
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
A
G
C
G
C
A
A
T
C
T
C
A
G
C
T
G
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
6000
C
A
G
G
C
T
C
A
A
G
T
G
A
T
T
C
T
C
A
T
G
T
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
A
G
G
A
C
T
A
C
A
6050
A
G
C
A
T
G
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
A
G
G
A
C
A
G
G
6100 |
var(6056):[A:0.01]
|
var(6067):[G:0.08]
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
T
T
G
G
C
C
T
C
C
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
C
A
T
C
6150
C
T
C
C
T
G
C
C
T
C
G
A
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
A
A
C
C
A
G
C
C
6200 |
REPEAT
T
A
G
A
A
A
T
A
C
A
T
A
C
T
A
T
T
A
T
T
T
A
T
T
C
T
T
G
T
T
T
T
A
C
A
G
A
T
A
A
G
C
A
A
A
G
T
G
A
G
6250 |
var(6226):[C:0.26]
T
C
A
T
G
G
A
G
A
A
T
T
T
G
G
T
T
G
A
A
A
G
T
C
C
C
A
A
G
G
T
C
A
G
G
A
G
T
C
G
T
G
A
A
G
C
T
G
G
G
6300
A
T
T
A
A
A
A
C
C
T
A
A
T
C
A
T
C
T
G
A
C
T
T
T
A
G
A
G
AG TAGACACTTG CTCCATGCAT
6350 |
var(6315):[T:0.05]
ATTG
C
C
T
C
C
A
A
T
T
C
A
T
T
C
A
T
T
C
A
A
G
C
A
C
T
C
C
C
T
G
C
T
C
A
A
G
A
A
G
T
T
C
T
T
T
C
6400 |
REPEAT
|
REPEAT
T
T
A
T
G
T
T
G
A
G
C
T
G
A
A
A
T
C
T
G
C
A
G
C
C
C
T
A
T
G
C
G
T
T
T
T
A
C
C
C
A
G
C
A
G
T
C
C
T
G
6450
G
T
G
C
T
G
T
T
C
C
C
T
A
A
A
A
T
C
A
C
T
T
A
G
A
C
T
G
T
G
C
C
T
G
C
T
C
T
T
T
C
T
G
T
G
T
T
T
A
C
6500
A
G
T
G
T
C
A
G
C
T
G
T
A
A
T
A
T
C
C
C
C
C
T
C
T
T
C
G
G
C
C
T
A
A
C
G
T
T
T
C
T
G
A
A
G
T
C
C
C
T
6550 |
var(6511):[A:0.21]
T
G
C
C
A
C
T
G
G
G
T
C
T
C
C
T
C
T
C
C
T
C
T
T
C
C
T
G
T
G
T
T
C
T
T
T
C
T
A
A
G
A
A
C
A
C
C
T
A
T
6600
G
C
A
G
A
T
A
G
G
T
G
T
C
T
T
C
T
G
T
A
C
A
G
G
G
A
A
G
C
T
G
T
T
C
C
T
G
A
G
A
T
C
C
G
G
G
C
A
T
C
6650 |
var(6601):[A:0.24]
|
var(6643):[T:0.01]
G
A
C
T
C
T
G
T
T
A
G
A
A
T
A
A
T
C
T
A
C
G
T
A
T
G
A
G
T
T
A
T
T
T
T
T
T
T
G
A
G
A
A
C
T
A
T
G
T
G
6700 |
var(6689):[A:0.06]
T
C
A
T
T
G
C
T
G
A
C
T
C
A
T
A
T
T
A
A
C
T
C
T
G
T
G
G
T
T
A
A
C
T
A
A
A
A
T
C
T
C
A
A
G
A
T
C
T
C
6750
T
T
T
ATGTTTG
T
T
G
A
G
A
A
A
C
T
T
A
T
T
T
A
A
C
T
T
C
T
C
T
G
G
C
C
C
T
C
A
G
T
T
T
C
C
T
T
6800 |
REPEAT
|
var(6792):[C:0.45]
C
A
C
T
G
A
G
C
A
G
T
G
G
A
G
T
G
A
T
T
G
A
T
A
A
C
C
T
C
C
A
C
C
T
G
T
G
G
T
T
G
C
T
G
A
A
G
G
T
C
6850
T
T
G
C
A
C
A
A
G
A
T
G
A
T
A
T
A
G
T
T
A
A
A
G
T
A
G
C
T
A
G
C
A
G
T
G
C
C
C
A
C
G
T
A
CGGCGG
6900
ATGCCTCACA ACGGTTTGCA GCCATCTCTC TATCTGTGTC TTTGTCTCTC
6950
TCTCACACTG GTTTTGGCTT ACTGTTAGCA GCTAGCCGAG ATAAGTGTG
T
7000 |
REPEAT
T
T
A
T
G
G
T
C
T
T
T
G
C
A
T
G
C
A
T
T
G
T
T
T
C
T
G
T
A
G
C
A
T
A
C
T
G
G
A
G
G
A
T
T
A
C
A
A
G
A
7050 |
var(7017):[T:0.11]
G
G
T
T
G
G
G
G
A
G
T
G
A
G
G
G
G
G
C
G
G
T
G
A
G
G
A
G
T
A
G
A
C
A
A
A
G
G
C
A
G
C
C
A
A
C
T
C
T
T
7100
C
C
A
A
G
T
T
T
A
G
C
T
T
A
G
A
A
G
G
A
A
G
G
A
G
C
G
G
T
A
A
A
C
C
C
T
A
G
T
T
G
A
A
T
G
T
T
G
G
A
7150
C
T
G
A
A
G
C
A
G
G
T
T
T
G
T
T
T
T
T
G
T
T
T
T
G
T
T
T
A
A
A
G
G
A
T
A
G
G
G
A
A
G
A
T
C
T
G
T
G
C
7200 |
var(7197):[A:0.02]
G
T
G
T
T
T
C
C
A
G
G
A
T
A
A
A
G
A
A
A
A
G
G
A
G
A
G
A
A
T
A
T
G
A
T
A
T
T
A
A
A
G
A
T
T
C
T
G
G
A
7250
A
G
T
G
G
G
A
G
A
A
G
G
A
G
C
A
A
T
G
A
A
A
T
A
C
A
G
A
C
T
T
G
A
A
G
T
C
A
G
T
G
G
C
A
T
G
G
A
C
A
7300
G
G
G
T
C
A
A
G
A
T
C
A
C
A
G
T
T
A
G
A
G
G
A
T
G
C
A
G
C
C
T
T
A
G
A
G
A
A
A
A
G
G
A
A
G
G
G
G
C
T
7350
C
G
G
T
T
C
T
C
T
G
A
G
C
A
A
G
G
A
G
G
G
A
A
A
G
A
A
G
A
G
A
G
G
C
A
G
A
T
G
C
A
G
A
G
A
A
G
T
A
C
7400
G
G
C
A
C
A
T
C
G
T
G
C
T
G
C
T
G
G
T
T
G
T
A
G
A
A
A
T
AA CCTCTGACTT TTAATAA
A
G
T
7450 |
REPEAT
C
A
T
C
C
C
T
C
G
G
T
A
T
C
C
C
T
G
G
G
G
G
A
T
T
A
G
T
T
C
T
A
T
G
A
C
C
T
C
C
C
T
C
G
G
A
T
G
C
C
7500 |
var(7476):[G:0.24]
A
A
A
A
T
T
C
G
T
G
G
A
T
G
C
T
C
A
A
G
T
C
C
C
T
G
A
T
A
T
A
A
A
A
T
G
G
C
A
T
A
G
T
A
T
T
T
G
C
A
7550
T
T
T
A
A
C
C
T
A
C
A
C
A
C
A
T
C
C
T
C
C
A
T
A
T
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
7600 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
G
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
C
T
G
G
C
T
G
G
A
G
T
A
7650
C
A
G
T
G
G
C
T
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
T
G
C
C
7700
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
A
C
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
7750 |
var(7704):[T:0.25]
|
var(7736):[T:0.27]
T
T
T
T
T
T
G
T
A
T
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
7800
G
T
C
T
C
G
A
C
A
C
A
T
C
C
T
C
C
A
T
A
T
A
C
T
T
T
A
A
G
T
A
A
C
C
T
C
T
A
G
A
T
A
A
T
C
T
C
T
A
G
7850 |
REPEAT
|
var(7814):[T:0.22]
A
T
T
A
C
T
T
G
T
T
T
T
G
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
C
7900 |
REPEAT
A
C
T
C
T
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
T
G
C
A
T
C
T
C
A
G
T
T
C
A
C
T
G
C
A
A
7950
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
T
G
T
G
T
A
G
8000
C
T
A
G
G
A
T
T
A
C
A
G
G
C
C
C
C
T
C
C
C
C
A
C
C
C
C
C
C
C
C
C
C
C
C
A
A
C
A
A
C
T
G
G
C
T
A
A
T
T
8050
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
G
T
C
A
C
C
A
C
G
T
T
G
G
C
C
T
G
G
C
T
G
G
T
C
T
8100
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
A
C
C
C
G
C
T
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
A
T
G
8150
G
G
A
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
T
G
T
G
T
G
G
C
C
T
A
G
A
T
T
A
C
T
T
A
T
A
A
T
A
C
C
T
8200 |
REPEAT
G
A
T
A
G
A
A
T
G
T
A
A
A
T
G
C
T
A
T
G
T
A
A
A
C
A
G
T
T
G
T
T
A
T
A
C
T
G
T
A
T
T
G
T
T
A
A
A
A
G
8250
A
C
A
G
T
A
A
C
A
A
G
A
A
A
A
A
A
A
A
T
C
T
G
T
A
C
A
T
G
T
T
C
A
G
T
C
C
A
G
A
C
A
A
A
T
G
G
T
T
T
8300
T
C
T
G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
T
A
T
T
T
T
T
G
G
T
C
A
G
T
G
G
T
T
G
G
T
T
G
A
C
T
8350
C
C
A
G
G
A
A
T
G
C
A
G
A
A
C
C
C
G
C
A
G
A
T
A
T
A
G
A
A
G
G
T
T
G
A
T
T
ATG CGTTCAGAGG
8400
CAGGGAATAC CATCTTGGGT TCCAGAAAGA AAATGATCAG CATTTTCTGT
8450
CATACTCTGG TAAAAACAGA TCTTTTGAAT GGACAGGTGT ATTAAACCCT
8500
GTGGAGCT
G
G
C
T
G
G
G
C
C
T
G
G
C
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
8550 |
REPEAT
G
A
G
G
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
8600
C
A
A
T
A
T
G
G
T
G
A
A
A
C
C
C
C
A
A
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
8650
T
G
A
T
G
A
C
G
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
A
G
A
8700
A
T
C
G
C
T
T
G
A
A
C
C
C
T
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
C
8750
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
G
T
A
T
C
T
A
A
A
A
A
A
A
A
A
A
A
8800
A
C
A
A
A
A
A
CCT GTGGAGCTGA TGAAATCCTG CAGGGAGCTT CACGGTGACA
8850
GCAAGAGGAG AAACACATCC CCATATGCCC CGCA
G
A
G
T
T
T
G
A
A
G
T
C
C
C
G
G
8900 |
REPEAT
C
T
G
C
A
C
C
T
C
T
C
C
C
C
A
G
C
A
G
C
A
G
G
T
T
G
A
C
T
C
T
G
G
A
A
A
G
T
T
G
C
A
G
C
G
T
T
C
T
T
8950
A
C
C
T
A
C
A
G
A
G
T
G
G
G
A
A
C
A
G
T
A
C
T
A
C
C
C
A
T
T
G
C
A
C
A
G
A
G
T
G
G
G
T
G
C
A
A
A
G
C
9000
T
C
T
G
T
G
A
C
G
G
A
A
T
A
C
A
T
G
G
C
A
A
G
T
G
C
C
C
A
C
C
A
C
A
T
T
G
C
C
T
G
G
GATGAGGT
9050
GGGCCCTTCC TTTACGTAAG AGA
G
CCCTAC AGATACACTC AAAGTGGGCA
9100 |
var(9074):[A:0.46]
CATTCCTACA GAAGGAGTGT TATTTGTGTA GAAAAGAAAA ACATGAAAGG
9150
C
TTTTATTCC TATACACAAT AAAGCACCCC TTTAATGTCT TTTTGAGGAG
9200 |
var(9151):[T:0.02]
GATAATATGA AATTGATGAA AAGGAACCCT GTGGTTGGAT CCCTGACAAT
9250
CACATGTATC CCTTTTTTCA CTCTT
G
AAAA AGGAGTAAAG GAATAAAATA
9300 |
var(9276):[A:0.38]
GAAGGGGAGA GGGGGCAGAG AGACCTTCAC CGCCCCCCCC CCACCCCCCA
9350
TCATCCAATC TATAGTCAAA CCCTCCAGAC TGTGTCTCCT TGGCATCTCT
9400
GACACCCCCA CCGCCACCAC CCCAGTCAAT TCCTATCTTA TCCCCCTATC
9450
CTGGATCTGA TTCTGCTAAG TTCCTGCCAC ACTAAAGACA GGGTGGCTTT
9500
CTGATGACAA CATTCCTCTG CTTAAACCTG TCAGTAATTC CTTGTTGCTC
9550
TCAGACGGAA CTAAGTTCTG AATTTCTTCA CACGGCTCTC AGCAAGGTCA
9600
CAGTCACCCT GCTAGGCCCC AGGGGCAAAT CTCA
A
TGGTC ATCTTCTTGA
9650 |
var(9635):[G:0.01]
AGACCTGGCT CAGTTATTTC TTTCTCATTG AGGCTCACGA CCCCACCTTC
9700
TTGCATGCCT CAAACGGCCC CTTACCATGC TCTTCTTTCG CCCATAGCTC
9750
AGCACACCGT ATCATTTTAA TTTATGTATT TTGCTTA
A
TG TGG
A
T
G
A
T
C
T
9800 |
var(9788):[G:0.07]
|
REPEAT
G
T
C
T
C
C
T
C
C
T
C
T
G
C
T
G
T
C
C
T
C
A
C
C
A
G
A
G
C
A
T
C
A
G
T
T
C
C
T
C
A
A
A
C
C
A
A
G
G
C
9850
T
C
T
T
T
G
T
T
T
T
G
T
T
C
T
T
G
G
A
T
G
C
A
A
G
C
T
A
A
A
T
G
T
C
T
G
G
C
A
T
G
T
G
G
C
A
A
A
T
G
9900
G
T
C
A
T
A
G
A
T
A
C
A
T
G
T
C
A
T
T
G
A
A
A
G
A
A
T
G
A
T TCATCACCTC
C
C
T
C
T
T
T
G
G
C
9950 |
REPEAT
C
T
T
G
T
C
T
G
T
G
G
T
T
C
T
A
C
C
A
A
A
T
C
C
C
A
T
T
C
C
C
T
C
C
C
C
A
G
T
G
C
C
C
T
C
C
A
T
T
C
10000
C
C
C
C
T
C
C
T
T
G
G
C
T
G
A
A
C
A
T
T
C
T
G
A
A
C
C
A
C
A
G
A
C
A
G
T
T
C
T
T
T
A
C
C
C
T
G
A
A
C
10050
C
T
T
T
G
C
A
T
A
T
T
T
T
G
T
T
C
T
C
T
T
A
G
C
T
T
A
G
A
G
C
G
G
C
C
C
C
T
C
T
C
C
C
T
C
C
G
T
C
T
10100
G
C
T
T
G
G
C
T
A
A
T
T
T
C
T
A
C
T
T
G
T
T
C
T
T
C
A
G
A
T
T
T
T
A
T
C
T
T
A
G
A
T
G
T
C
A
T
T
C
C
10150
C
T
C
A
A
G
G
A
A
T
C
C
T
T
C
T
G
T
G
A
C
T
C
A
A
C
A
T
G
G
A
A
T
T
A
A
G
T
T
G
C
C
T
C
C
T
T
T
G
A
10200
C
C
C
T
G
A
A
A
G
C
A
C
C
A
T
G
T
A
C
T
C
A
A
T
C
T
C
A
T
C
T
T
G
G
C
A
T
G
A
C
T
C
A
C
T
T
T
G
C
T
10250 |
var(10214):[G:0.28]
G
T
G
T
G
G
A
A
T
G
T
C
T
G
C
T
T
T
C
C
T
T
G
T
T
T
G
T
C
T
A
T
T
C
C
T
T
T
A
G
A
C
T
G
T
A
A
G
A
T
10300
C
C
T
A
G
A
A
A
G
T
G
G
G
G
G
C
C
G
T
G
C
C
T
T
G
C
T
C
A
T
G
A
C
T
G
T
G
T
T
T
C
T
A
A
C
A
C
C
A
A
10350 |
var(10312):[C:0.01]
|
var(10325):[C:0.07]
A
C
A
C
A
G
T
G
T
T
C
A
G
T
A
G
A
G
A
G
C
A
G
C
T
G
C
T
G
A
G
T
A
C
G
T
T
T
C
T
G
C
T
A
A
A
T
G
A
C
10400 |
var(10356):[A:0.48]
AGT
T
GATGGA GGACATTTAG GGTTGCTTGG AGGTCAAGTC AAGGAGGCAT
10450 |
var(10404):[G:0.05]
TTAACATTCT AGTAAAACAA GGAAGTAACA GGCTCCTGAA CATGCCCACA
10500
ATGAACCAGA TGCAAACCTT TTCCCTTGGC AG
G
A
T
T
C
T
T
T
G
C
C
C
A
T
A
A
A
G
10550 | Exon 2
G F F A H K 29
T
G
G
A
G
C
A
C
G
A
A
A
G
C
A
G
G
A
C
C
C
A
G
A
A
T
G
G
G
A
G
G
A
G
C
T
T
C
C
A
G
A
G
G
A
C
C
G
G
A
10600
V E H E S R T Q N G R S F Q R T G 46
A
C
A
C
T
T
G
C
C
T
T
T
G
A
G
C
G
G
G
T
C
T
A
C
A
C
T
G
C
C
A
A
GTGAGTCC TAA
C
CCTGAT
10650 |
var(10644):[A:0.43]
T L A F E R V Y T A N 57
GTTGCTAATA AGTGGGGGCA TGGGCAGGGG GGCCTCCTTC TAGGAGTGAT
10700
GACCACCCTT AATACCACAT GTCTGTCTGA GCCAAG
T
TTC TGAGCGCCAG
10750 |
var(10737):[C:0.20]
GGAGGTGAGG AAGGTTGGAC TTCACCAGAG AGGCTTTGTG GACACCCTTT
10800
ATCATCTTAG TGAGTGCTAG TGTCAAAACA AAGGGAGTGG GGATATGGGG
10850
CACATTGGTG GAGGGAGGTG TGATCTCTGC AGCTTCAGAA AGATCTGAAA
10900
GAGTCATTTG GTTAGAGAAG TTGACCTATT TCCTGTGGGG TTAGACCAGG
10950
GTTGCTACTG TGAACACCAG CCATGACTCA CCAGTCACCT TCAGAAGCCA
11000
CAGGCAGGAC ATGCTGACGA CAG
C
CTTCAA CTCACCCACC CCTTGCTCCC
11050 |
var(11024):[T:0.06]
CTGCGGGTGG AAGTCTGGAG GTGACACCAC TGCATTTTCT AACACGGGGG
11100
CTCCTTGAGC AACTAGAACA AGAACAGAAA GAATGGGGAC ATTAGCAGGT
11150
GCTTTCCCCC TCTCTCATTC TTTTCTTTGA ATAAAAA
G
GT TGTTTGAAAA
11200 |
var(11188):[A:0.03]
CACCTGAGCG GCTCCTAAAG ATGGGTGCAA TCTATT
C
GGG ATGCAAATCC
11250 |
var(11237):[T:0.01]
GAATGAATGT TATTCAAATG CTCCTCTCTT CTTTATGCAG AGTGTATTTC
11300
AA
G
GCTCAGC CAGTGGCAGG CATGCTGGGG ACTATGGACT ACGGACTAGG
11350 |
var(11303):[A:0.04]
GGCCTGTCAC AGAGGAAGGC CTCATGCTAG AGAGCTAAGG GAGGAGCTGG
11400
CCTTCAGTTC CATCCCAGGA GCAACTTTGA TGTTCCCAGA
G
ATCCTTCCA
11450 |
var(11441):[C:0.03]
AAGGGGGAGT CATGGTCA
C
C CAAGAAAAAT GTATTCAGAA TGCCAAGAAT
11500 |
var(11469):[A:0.08]
GGTGCAAACT CAGGACAAAG ATTCACACTG CAGGGTTGGA GTCCCTGGGC
11550
TTGCTGCTGG CACCATGGGA GGGAGGGTCC CCTTCAGGGG TACCGTTGGT
11600
TTCCTGTGAA TTAAACTGGC TTCAAGGGAT CTCGACTGAA CAGGCCTATA
11650
TCACACTCAC TGATATACTC TCTCTTCAGT CCTTCTCCTC ATCTAGGTAT
11700
TTTTAATTGT TTCAGTGAGG TGTAGGCATG AGGGGATTGG AGGGGGCATC
11750
TCCTCCATTG CAGTTTTTCA TTGGCTGCTT TGCTCCCTCA GCTCCGAAAT
11800
CGCTGGGCCA CTCTCGAACG CATTAGTACG GTAGTCACAG GTTGATTGCC
11850
TGGCCCCTTG CC
C
TCTGTGG GCATTTTCCC T
T
TCAGAC
A
G CCCCTGAGTA
11900 |
var(11863):[T:0.02]
|
var(11882):[C:0.47]
|
var(11889):[T:0.47]
CTCACAGTGC TGCTA
C
AGTG GGCCACCTAG ATCTCCCTCT TTCTCCATGC
11950 |
var(11916):[T:0.02]
TCCCACGTGC TCTGGGCTCC ACTCCCTTCT CCCAAGCACT TCTGTCCAGG
12000
GCTATTCCAG CAGTCTGACC TCAAGGAAAT CCTTTGCTAA ACTGATTATA
12050
GAGAGGTTTC TATTTTAACA TTTAGG
C
CTT CCATGT
A
TTA ATTCTCAGAA
12100 |
var(12077):[T:0.10]
|
var(12087):[T:0.08]
TCAATTTAAG AT
G
TTTAAAG GTGTGATTTA AGACATTTTA AAACCATTTG
12150 |
var(12113):[A:0.02]
GAGGAGAGTA CAGAAATTAT GTCACTTGCT GTCAGCCTCT TTGCACCATC
12200
TGCAGAGAAA GATACTAGAG TCCCGCCTTG GACACATCCA CATGCAAGAG
12250
GTGCAAAGAA GGTGTCTTTG ATGAGGCAAG GTCAAAACT
T
C
TCCCCAGAC
12300 |
var(12290):[C:0.49]
|
var(12291):[T:0.02]
GAAATCCAAA GAAAGCATTC CTACTATGCT ATATCAGTTT GGAAAGAAAA
12350
ACTTCTGCCA GGTGACTGCA TTCTCACTGG TCACATTGTG TTCCTATGGA
12400
CTCCTCAGCT CAACCAATTT GGAGAAGTTA TGGTGCAATT TCACCATATC
12450
TGG
T
TAGAAG TTAAGTTTCC AATTTGCTGG CAATGAAGAA GAAATGGAGC
12500 |
var(12454):[C:0.49]
AGG
C
CAGGCT GTGTAGTTTC TGCCACGTGC CCCCGGGAGT GAACAGCTCT
12550 |
var(12504):[A:0.01]
GTTTGTAAGA AGCC
A
TGGTG CTTAGACCTG GGCT
C
GCTAG TTGCCAGCCT
12600 |
var(12565):[G:0.01]
|
var(12585):[T:0.49]
CCAAATTGCA GAAGTGCCCT TTGGTTGGTG GCTATGCTGT GTCACTTGGG
12650
AAGGTCGTTT GGAAGTTCCA CAGTCGTTGT GGGGTGCCAG AGATTAAAAA
12700
GC
G
TAAGAGG AGAGTGGAAA GTGATTGTTG CTGCTTGGGC ATCCCCACCG
12750 |
var(12703):[A:0.01]
TGTGGGTGCT GCAGCCCAGC TCTCAAAACC CATGGGTCTG TACACTCAAC
12800
CTCCATGAGA GGGAAGGAGA AGGATGAGGG AGGGGAGAGA TAGCCATGGA
12850
AAGGTAGGAA CTAAGCAGGC AGGGTGGA
G
A GTTTTCTGTA AGACAAAAAC
12900 |
var(12879):[A:0.48]
TGTCTGGACA CTGCTGCGGT TCTGTTACAA AGACCACTTC CTCCCTGGGC
12950
CAGCAACATA TCTGTGTGCC TGTCTGGGTT GTAAAAAGGG TCAAAGATCA
13000
ATGCAGCAGG CAGCTACATG CTGG
C
AAAAG CCAGAGGCAG CTGGTCTGTT
13050 |
var(13025):[:0.17]
TGCCTGTGCC AGGAAACCAC TGGGAATGGG GTTGTGTGTT ATTCTAGGAG
13100
AAAGT
C
GTCC CAGCAGCAGC TTCTCCAGGG GCATCCAAGA GCACTGAAAA
13150 |
var(13106):[T:0.01]
G
GGT
T
G
C
A
A
G
A
T
G
A
C
C
C
A
T
G
A
G
G
C
T
G
C
A
G
G
A
A
G
A
A
A
A
G
A
A
C
A
T
G
C
A
T
T
T
A
13200 |
var(13151):[A:0.16]
|
REPEAT
A
T
C
T
T
G
C
T
A
T
C
T
G
A
A
A
A
G
T
A
A
G
A
C
A
T
G
A
A
G
C
T
T
T
C
C
T
C
A
T
T
T
T
T
A
A
T
A
T
A
13250 |
var(13209):[G:0.09]
|
REPEAT
C
A
C
A
T
G
G
A
C
A
G
T
A
G
T
A
T
G
T
G
T
A
T
A
T
A
G
T
T
T
A
T
A
T
G
C
A
A
A
T
A
T
A
C
T
T
G
T
T
A
13300
T
A
A
G
G
T
T
G
C
A
T
G
C
T
C
A
A
A
A
T
T
T
T
T
G
G
T
T
C
A
T
G
G
G
G
T
G
T
G
G
G
A
T
C
A
T
A
A
A
T
13350
G
T
T
T
A
G
G
G
A
C
C
A
TGGCTATC AAGGAAAAAC AGCATGAAGG ATAAATGATA
13400
CTGG
C
GGATT AAAAAGACAG ATGCATGTAT TTTTAGCATA AAACACAACT
13450 |
var(13405):[T:0.50]
GCTGACTGAT ACAGATAGCT CAA
G
ATTCTG GGGCAGCTGC TGAACAGATA
13500 |
var(13474):[C:0.49]
CACTAGCCAG TGTGGCTCAT CGGCTCAGAC TTGGCCTTAA TTAATGGGCT
13550
GTCCCTCCAC CCATCTCCCA TGAGGGCAGA GCTGAGCCAG GGTTTGAGAG
13600
CTAAAAGGAA TTGGACCTGG ACTC
T
GTTCA CGTGTATATT TTAATTCTAA
13650 |
var(13625):[A:0.49]
TTAATTCA
T
T
C
T
T
T
T
G
A
A
A
G
A
C
A
G
A
G
T
C
A
C
A
C
T
C
T
G
T
T
G
C
C
T
A
G
G
C
T
G
G
A
13700 |
REPEAT
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
G
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
13750
G
T
T
A
T
T
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
C
A
T
G
C
13800 |
var(13798):[C:0.02]
C
C
C
C
A
T
G
C
C
T
G
A
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
13850
T
G
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
T
A
T
C
C
A
C
C
C
G
C
C
T
T
G
G
C
13900 |
var(13892):[T:0.01]
C
C
C
T
C
A
A
A
G
T
G
T
T
G
G
A
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
T
G
G
C
C
TGTTC
13950
ACATGTATAA AACACAGTTT AATGTCCTAT TCCCAGCCAA TGAGCATGGC
14000
TAGAGCAGCC TTGGTCAAAG TTTGGTTTTT GGAGAAAAAT CCTTGTTAGC
14050
TGACCTAAGA TTCCTCTTTG TGAGT
G
TAAG TAAGCACAGG TTGCAGAGAG
14100 |
var(14076):[T:0.06]
GAGAAGGGTC TCTGGAGAGG TGTAATTTTC TAAATGGATT ACAAGTTCAT
14150
GGACTTTTAA CAGGTGTTAC AGGGGATAAC AAGTTCTTTA TAGACAGACT
14200
TTTGAGGACG TTTAAGGGTA TTCTGATTCT TGGTTTTCTA AGAGGGGAAT
14250
GTATTATTTA ACTACAGACA CCCCTACCGC CCACTTTTTG CAGAGTGTAT
14300
CAAAACATGT TTTTGGAATA CCACCCTCAT GTCGCTTCTC CCTG
C
ATCTC
14350 |
var(14345):[T:0.07]
TTATCTCTTG GTGTCCATTC TAGACTCACT TTC
T
T
T
C
T
G
T
T
T
T
T
T
A
T
T
T
T
14400 |
REPEAT
T
A
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
C
T
T
C
A
C
T
C
T
G
T
C
A
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
14450
G
G
T
G
C
A
A
T
C
T
T
G
G
C
T
G
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
T
C
C
G
G
G
C
T
T
A
A
G
C
A
A
T
T
T
14500
T
T
G
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
C
A
T
G
C
A
C
C
A
C
C
A
T
G
T
14550 |
var(14550):[G:0.02]
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
C
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
T
A
T
G
C
T
G
G
C
C
14600
A
G
C
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
T
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
14650
C
A
G
A
G
T
G
C
T
C
A
G
A
T
T
A
C
A
G
A
C
G
T
G
A
G
C
C
A
C
T
G
G
T
G
C
C
T
G
G
C
C
TAGACTCA
14700
CTTTCAAGTG GCATAGACTT GTAAAATTAT TTAAAG
G
TGA TAGGTCTACA
14750 |
var(14737):[C:0.01]
ATGATCCTGT CAATTAGTAT TGACACTATT ATTAATAAAC TGTTATTAAT
14800
TATATTTACT TACTTTAAAT TAATCCAAAC TAATTAACGG AACACTAAAG
14850
AGTTTCTATG TTTTATTCCC AGAGGTGGAG AAAAATGAAA GGGAATATAG
14900
CAACGAATTC TTTTCTCCAT AAAAACATGA ATAGTGCAGC ACATCAAGTT
14950
GAACATACCA CAGCAAATTG TTGCAAGATC TGCTGAGTAG CTCCTATTTA
15000
GACCTCAAGG AATGAGACTC AAAATGGGTT CATCAGTTCT GTTTTGCAGA
15050
AAAAATAGCG CAAAATTTCT CAAAAGAAAA TCCAGAATAA TAATAATTTG
15100
TCAATAGGAA AGACATTTCC ACTGGGGGTT AAGAAGGAAG ACATTGGAAC
15150
A
A
T
G
A
T
A
G
C
C
A
C
C
A
C
T
T
A
T
T
G
A
A
T
G
C
T
T
A
C
T
G
T
G
A
G
C
C
A
G
G
T
G
G
C
A
C
T
T
C
15200 |
REPEAT
A
C
C
T
T
G
T
T
T
C
A
T
T
C
T
C
A
C
A
A
C
A
G
T
C
T
A
G
G
G
A
A
G
T
A
A
T
T
A
C
T
A
A
T
G
T
C
T
C
C
15250
A
T
C
C
A
C
C
T
C
T
T
G
T
A
G
A
T
G
A
G
C
A
A
A
T
T
G
A
G
G
C
T
C
A
T
T
G
A
G
G
C
T
A
G
G
A
A
A
T
G
15300 |
var(15275):[C:0.11]
|
var(15285):[C:0.42]
C
A
C
C
C
A
C
A
C
T
C
A
C
A
T
A
G
C
C
C
A
T
A
A
G
A
G
G
C
A
G
C
C
A
T
G
G
C
A
T
T
G
G
G
C
C
C
A
G
A
15350
C
C
A
T
G
T
G
A
A
C
T
T
C
A
A
A
G
ACT ACACGAGCAG CCACTGGGCA GCTGTCATGG
15400
CTAAAGCCAC TTGAATTCAG CCCAGCAGCA ACCCCCTCTC CAGGAGGGGC
15450
ACATAAGCTT GCAGCTTTGG GTAGAAGCTG CACTTGAAGT CCTGGATGGC
15500
GAGAGGGACT GGCTTGAGCC AGAGCCAGGA ACAAGGCTCT GAGAATATTC
15550
TGGAAATCCA CAGGAGGAAC CCATTTTCTT ACAGCTGGGA GAATTTCATT
15600
CAACTCCAGG CTGACCATGT TTTATTAGGA ACGAAGGTGA CTTGAACTAA
15650
TAGTCAGGAA TGGTTGAATA CGGACCC
G
AT GTCAAATCAC TAGGCAGTTC
15700 |
var(15678):[A:0.42]
ACATTTCTAA TGAGCAAATC CCTTAGACA
A
TTAAGAATTT TTTTCCTTTT
15750 |
var(15730):[G:0.01]
GCATAACCCA GACAAAATCG CTACTTAAAA ACAAACCAAA GACCC
G
AAAC
15800 |
var(15796):[A:0.01]
ATGAGAAAGA GAAGGAAGCA GGGGAAATCT TTGGTACTAA TAAGTTTTTA
15850
AACAATAAGA GCACCAGATA TTTTACCCCA TCAGACACAG AATGTTATTC
15900
GAATAAC
C
AA AAAAGGAATT TTTTCTCTAA GTTTCTTGAA CTGGAAAATG
15950 |
var(15908):[G:0.02]
AATCATATTT TCTCAGTCCT GAGGCTGCAA TTTTGTGCCT CTAGTAACAT
16000
ATAAGAATAG ATGTGATGCC AGTGCCCAGT AGCTGCTGCA ATTGTTACTT
16050
GGGGACCTGT TTATTCACTA AGCACTTCAC CCCAGTGATA AATTTGTAGG
16100
GGCCTCCTGC CCTTTGGAGC TCCTACCGTG TCCATTAGAT CAGTGGAAAT
16150
TCTGGGATTC AGAGCACTTT GCAAGGTCAG CAGGGGTCTG CTCTTTCTGT
16200
CCTGTTCCTG GTTTTTGGTT GTGCCTGGAT TCCAGGGTAG GTTTCTCATC
16250
TGTTACCTTC ATAGACTTCT CCAGAAAAGG ATCTTTTGAC CATCAGAGGA
16300
CCACGAAGAT TCCATTGGTG AGG
C
GCAGAT AACCTGATCT CTCTGGGTTC
16350 |
var(16324):[T:0.07]
TCTGCAGGGC ACAGATGAAG GGCTGGCCAT TCCCAAGTTC TCAGTGGTAC
16400
CACTGAGGCA TGAGACCCTA ATGGTTTGCA TGAGCAGTTT GAAAATTGCA
16450
TCTTTGTTTT TACCTATATA ATCACATGAA ACCC
G
T
G
G
T
T
C
T
C
A
A
A
C
G
T
C
16500 |
REPEAT
A
G
C
A
G
G
C
A
T
C
A
G
C
A
T
C
A
C
A
T
G
G
A
G
G
G
C
T
T
G
T
T
A
A
A
A
C
A
G
A
T
T
T
C
T
G
G
G
C
C
16550
C
C
A
A
C
A
C
A
G
A
G
T
T
T
T
A
A
A
T
T
C
T
G
A
A
G
G
C
C
T
G
A
G
G
T
G
G
G
C
G
T
G
A
A
C
A
T
T
T
G
16600 |
var(16589):[T:0.41]
C
A
T
T
T
C
T
A
A
C
A
T
G
T
T
C
T
C
G
A
T
G
C
T
G
C
T
G
C
C
G
C
C
G
C
T
G
G
T
C
C
C
G
A
G
A
G
C
A
T
16650 |
var(16619):[A:0.06]
|
var(16630):[T:0.06]
|
var(16634):[T:0.35]
|
var(16647):[T:0.09]
G
C
C
T
G
G
A
G
A
A
C
TGCCACCTT CG
A
C
C
A
T
G
G
A
C
T
G
T
G
A
G
A
A
T
T
C
A
C
A
T
G
G
A
C
16700 |
REPEAT
C
T
C
A
G
A
A
T
T
A
T
A
A
T
C
A
G
T
C
T
C
T
C
A
G
T
T
T
T
A
C
A
G
A
T
A
A
G
G
A
A
A
C
T
A
A
A
T
C
C
16750
A
G
A
G
A
G
A
T
T
G
T
T
T
T
G
C
C
A
A
T
G
G
T
G
A
A
C
A
G
C
T
G
G
T
T
A
A
A
G
T
C
A
G
G
A
T
G
G
A
G
16800
A
C
T
T
T
A
A
T
C
C
T
A
G
T
C
AAGTG ACCTTTCCTC TGTATTTATT TCCCTCCCTT
16850
T
T
TATGCCTC TCAAGTCTAG TTACACTGTT TTTCATGGAT GGGCATATTT
16900 |
var(16852):[A:0.01]
ATTGTCCTGA TCTGGACTGC AGACTTCTCA GGAGGACACC TATGATTTAA
16950
TTT
A
G
T
A
T
A
G
T
T
G
A
A
G
A
G
T
T
A
A
C
A
G
A
C
A
T
G
G
C
T
T
T
G
G
A
G
A
C
A
G
A
C
T
G
A
T
T
17000 |
REPEAT
A
T
G
G
T
G
T
G
A
A
T
C
C
C
G
G
C
T
T
T
G
C
C
A
C
T
C
C
C
T
A
G
C
T
G
G
A
T
G
A
C
C
C
T
G
A
G
C
A
A
17050
G
T
T
A
T
T
C
A
G
C
T
T
C
T
C
C
A
A
G
C
C
T
G
A
G
T
T
C
C
T
T
A
T
T
G
G
A
A
A
C
A
T
G
A
G
A
G
C
A
A
17100
T
T
G
T
G
A
T
A
G
G
C
A
G
A
A
T
A
A
T
G
G
C
C
C
C
C
T
C
A
C
C
A
A
T
C
A
T
G
C
C
C
A
C
A
T
C
C
T
A
A
17150 |
REPEAT
|
var(17120):[A:0.01]
T
C
C
T
A
G
G
A
A
C
C
T
G
T
G
A
A
T
A
T
G
T
T
A
T
G
T
T
A
C
A
T
G
G
C
A
A
G
G
G
G
A
A
A
T
T
C
A
G
G
17200
C
A
G
C
T
A
G
C
C
A
G
T
T
G
G
C
C
T
T
A
A
A
A
T
A
A
A
G
A
G
A
T
T
A
T
C
C
T
G
G
A
T
G
A
T
C
T
G
G
G
17250
T
A
G
G
A
C
C
T
G
A
T
G
T
A
A
C
C
A
C
A
A
G
G
G
T
C
T
T
T
T
T
A
A
T
G
T
G
G
A
A
G
A
A
G
G
A
G
G
C
A
17300
T
A
A
G
A
G
T
A
G
A
T
G
T
C
A
G
A
G
T
C
A
T
T
C
A
A
A
A
T
A
A
G
A
A
A
G
A
T
T
T
G
A
T
G
G
G
C
C
A
T
17350
C
C
C
T
G
A
C
T
T
T
C
A
G
G
T
T
G
G
A
A
G
G
A
G
G
T
T
C
T
G
A
G
T
C
A
A
G
G
A
A
T
A
C
A
G
G
T
G
A
C
17400
C
T
C
T
A
G
A
A
G
C
T
G
G
A
G
A
A
G
G
C
A
A
G
G
A
A
A
T
G
G
T
T
T
C
T
C
C
C
C
T
A
G
A
A
G
T
T
C
C
A
17450
G
A
A
G
G
A
T
T
G
C
A
G
C
C
C
T
G
C
T
A
A
T
A
T
C
T
T
G
A
C
T
T
T
A
T
A
G
C
C
C
T
T
T
G
A
G
A
T
T
T
17500
A
T
T
T
T
G
G
A
T
T
T
C
T
G
A
C
A
T
C
C
T
G
A
A
C
C
A
T
A
G
T
A
A
A
A
G
G
G
T
G
T
T
T
T
T
T
G
T
T
T
17550 |
REPEAT
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
T
G
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
17600
A
T
C
T
T
G
G
C
T
C
G
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
17650
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
T
T
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
17700
T
A
T
T
T
T
T
T
G
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
17750 |
var(17706):[G:0.07]
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
T
T
G
17800
C
T
G
G
G
A
T
T
A
C
A
A
G
G
C
G
T
G
T
T
G
T
T
T
T
A
A
G
C
C
A
C
T
C
A
G
T
T
T
G
T
G
G
C
C
A
C
T
T
G
17850 |
var(17813):[A:0.02]
|
REPEAT
T
T
A
C
A
G
C
A
G
C
A
A
G
A
G
G
A
A
A
C
T
C
A
T
A
C
A
G
T
T
A
T
C
A
T
G
T
G
A
A
C
T
C
A
C
A
G
G
A
A
17900 |
REPEAT
T
A
T
G
G
T
G
A
G
T
T
A
A
A
AAGAGA GGAAGGGTGC AAAACATCCA CGGTAGAGTG
17950
AGAACTCTCC AGGGAGTGAG
G
ACTGTGC
C
C AGCATACAGT GATCACCCTC
18000 |
var(17971):[A:0.08]
|
var(17979):[A:0.41]
TTAGTAAGCT AAGTTTCTGA GCACCAGCTT TTTTGAGTTG ACTTTGTTGT
18050
CTTTAACATT TGAAGATCAC CCTTCTTTGC TCAGCCTGGC TTGCAGACCT
18100
GGGCTGATTT GTGGATCTGA TAGAAAAGTT TCCTTAGTTG GGCTCTTCTC
18150
CCCGACCACC CCCATGCCAG TGTGGCCACA TCCTCTGTCT GCATTGCTCA
18200
CTCTTCAATT CCAAGAAGCG CAGGGGCACC GCCAGGAACA GGAACCCTGC
18250
CAGAGGAATA CATCAAGAAA CCAAGTCTCC CTTACGCATC ACCGTAGGAA
18300
CAGAGTTAAT GGATTATGAA CATGTGTTTG CTTTATACCA TTGTTTGTTT
18350
CCCAGGTGGC AGCTGGCTGC CCCATCTTAT TGGGTAGATG TAAGTGGAAT
18400
TACGAATGGG ATTTATGTTT CATGCACGAT GGTGATTATT AACTTCAACT
18450
TTCAGGTAAT TTTCAGACCA CATTGCACTA ACTTGGTCTC TGATTGTTTT
18500
TCTCCTTGTT TGTTTATTCT GCAG
C
C
A
G
A
A
C
T
G
T
G
T
A
G
A
T
G
C
G
T
A
C
C
C
C
A
18550 | Exon 3
Q N C V D A Y P 65
C
T
T
T
C
C
T
C
G
C
T
G
T
G
C
T
C
T
G
G
T
C
T
G
C
G
G
G
G
C
T
A
C
T
T
T
G
C
A
G
C
C
A
A
G
GTAAC
18600
T F L A V L W S A G L L C S Q 80
TCAGACTTCC CTTTGTTCAT TCTCCTTCTA TAAAGTGCAT CTCAAGGAGG
18650
TTCAAAGG
G
C AGGCTTTTT
G
TTGAAAGGAC TTTGCCTGAC CTCTGGCTCC
18700 |
var(18659):[T:0.03]
|
var(18670):[A:0.02]
CATCTGTGAA GCCCTGGAGA GGTGAGAGCC CTCGGGAGGC CGTGTTTCAG
18750
GCATGCTCTG CACCCGTGCA GAGCGC
G
TGT GATAATGCAT TGCTAATGCT
18800 |
var(18777):[A:0.07]
TGCTCCCTGG TGGCTGGCTG AGAGCTGCTG TGCTGACAAG GGTGGTTTAA
18850
GGCTAAATGT GACTCAGAAT CCTTAAGCAG
T
GTTAGTTCA GATACAAGGG
18900 |
var(18881):[C:0.01]
CATTATAAAT GAGAGTGCCT GAGGGATCTA TTTTGGGACC GCTGTCACTT
18950
GGCTCTTCTG CTAATAAGCT TCCAGTGTGG TGGCCCTCCT TCAGGCATGT
19000
TTCCACTGAG CCACGGGCTG GATGCCACAT CCCCGGCCTT CCCACAGTTA
19050
TCAGCAGCCC ACAGGCTTGA CTTGAGCAAG TTGGAAAGAC AAATCAACTT
19100
CCAGAGTTGA TTTAACATTG AGTGGAAATC AGTCATACTT TTGGTCCCCT
19150
TTCGGGGCCA CGCCTGGCAC TGTGCCTGGT GGCAGATCGG CATGAACTGG
19200
CCAGCTTCTG TGGCCCTGGA GGGCACAGGC AGAAAGGCCA C
A
CTCAGTCC
19250 |
var(19242):[G:0.12]
CATGATGAAC TGTTTAAGAC TTATTGTTGT CTCCCCG
C
T
C
T
G
T
A
A
A
G
T
A
G
19300 |
REPEAT
A
T
A
G
A
G
T
G
G
A
T
T
T
T
A
T
G
T
C
C
C
T
T
A
T
T
A
C
C
T
T
T
C
A
G
G
A
T
A
C
T
T
T
G
A
C
T
C
A
G
19350
G
G
A
G
A
T
A
A
A
G
T
A
A
C
T
T
G
G
G
T
A
C
A
G
C
T
A
C
T
C
A
G
C
T
G
G
T
G
A
A
G
A
A
C
A
C
A
G
G
C
19400 |
var(19368):[C:0.18]
A
G
A
A
T
G
A
G
T
G
C
C
T
G
G
G
T
C
T
T
T
T
G
A
C
T
T
A
A
A
A
T
T
C
T
G
G
A
T
T
T
T
T
C
A
C
AAAG
19450
ATCCTCTTAC TTT
A
T
T
C
A
T
T
T
A
C
A
T
A
A
T
A
A
A
T
A
T
A
T
A
T
T
G
A
A
G
A
G
C
T
A
C
T
19500 |
REPEAT
C
T
G
T
G
C
C
A
A
G
C
C
C
T
G
T
G
C
C
T
A
G
A
T
A
T
A
C
A
G
T
G
A
T
A
A
A
T
A
A
A
G
A
G
T
A
G
C
T
T
19550 |
var(19529):[G:0.02]
C
T
A
G
A
G
G
T
C
A
C
C
T
G
G
C
G
G
T
G
A
G
G
C
A
C
A
G
G
C
C
A
G
C
T
G
G
C
A
A
G
A
T
G
G
A
C
C
A
C
19600
A
G
A
A
G
T
C
A
G
T
G
A
A
T
G
A
A
G
A
C
A
A
T
G
A
C
A
A
G
G
G
T
G
G
G
A
AGCG CCATATGGGA
19650
AGAGAACCAA GTTCAGTGAT AGAGAGCAGA GGTGAGGCGG CAGCAGAAAC
19700
CACTTAAGGG ACACCACGTG GCACTCCTTC TGTGCTGAGA AGGCTGTCAG
19750
TAAGCTCACC ATTTATTTCC TATTTTCTCT CCTGAGTTAA ATAGGAAACA
19800
TGTCTCGCAT TACTTGAAAA ATCAAGTCAA ACTATGCTCT TACTAGGAGT
19850
TATGGT
T
CTT TTTATGTCTT AGATGATGCT TGATCTAGAT GAATGCGGAC
19900 |
var(19857):[C:0.16]
TTGCTGTAGC TAGATAAATA CAATGGGAGT TTGAAGGTGT TTCGTAGCCC
19950
TGGAAATA
G
G TATTTCCTGT CAAAACAAGC TTTGTCATTG CCAGCAGACA
20000 |
var(19959):[T:0.20]
AAAGCATCAG TAACCTTGGT TGATAATCGT CATTTCTTAG GAATAAAGTA
20050
GACTGTAGAA TTTTTTTT
A
G
C
A
G
A
A
A
G
G
A
A
A
C
C
C
A
A
A
G
A
T
A
A
T
T
C
T
A
G
T
G
20100 |
REPEAT
C
A
A
A
T
C
C
C
T
C
A
C
T
T
T
A
T
A
G
A
G
C
A
G
A
A
G
C
T
C
A
A
G
T
C
C
C
A
G
A
G
G
A
A
C
A
A
G
T
G
20150
G
C
T
T
G
AA
C
GA ACATCAGAAT TTTAG
G
GGCT GGATTTGTAC CCTCCTGGTG
20200 |
var(20158):[T:0.07]
|
var(20176):[T:0.23]
CCAGCAGCCC ACTTCCCTGC AGGAGGCACT CACCTTCCTT GCACAGGGGT
20250
ATGAGTGTGG CCATTTTCCA CCCATAATCT CTGTTAGCTC ATGTTCAATT
20300
GGGTTCCCAT TGAAAGAAAA ATGGACCAGT AAGTTGGAGC AGAATCATTC
20350
AGATGGTATA ACATAAGGAA AAACTTTGCC CAAGGCAAAT CGTGATTGTG
20400
ACAGCTTTGT GATTTTTAGA GAATAGCATG
G
G
C
C
A
G
G
C
A
C
A
G
T
G
G
C
T
C
A
T
20450 |
REPEAT
|
var(20437):[T:0.02]
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
C
A
G
G
T
C
A
C
T
T
G
A
G
G
20500
T
T
G
G
G
A
G
T
T
C
G
A
C
A
A
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
20550
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
G
T
A
A
T
G
C
C
A
G
C
T
20600
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
A
A
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
20650
G
C
G
G
T
G
A
A
C
C
A
A
G
A
T
A
G
C
A
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
T
G
20700
A
A
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
G
A
G
A
G
A
G
A
A
A
G
C
T
G
A
A
G
TTCACA GTTTCTCTTT
20750 |
var(20721):[:0.52]
TGCTTTGATT TTCTTATCTG CCGGATAACA ATAGTATTTT GGAA
G
GCAGG
20800 |
var(20795):[A:0.14]
AGGAATTGTG GA
A
A
G
A
A
A
T
G
G
G
T
T
T
T
G
G
G
G
A
G
T
G
G
C
T
G
A
T
T
G
G
A
G
G
C
A
A
A
20850 |
REPEAT
T
C
C
A
A
G
G
A
C
A
C
T
C
A
T
T
G
C
T
G
G
T
G
T
G
T
G
A
C
T
C
C
A
G
G
C
A
G
T
T
A
C
T
C
A
G
C
T
T
T
20900
T
C
C
A
A
G
C
C
T
C
A
G
T
T
T
C
C
T
T
A
T
T
G
T
A
A
A
A
C
A
G
G
A
C
C
A
T
G
G
T
C
T
A
G
C
T
A
G
T
A
20950
G
C
A
T
T
C
C
T
A
T
G
G
T
G
A
G
T
G
A
A
A
T
A
A
T
A
T
G
T
A
T
A
A
A
G
C
T
C
C
T
G
A
C
A
C
A
G
T
G
C
21000
T
T
G
G
C
A
T
A
T
A
T
C
A
G
A
T
T
G
A
G
C
C
A
T
G
T
A
A
A
A
C
T
G
C
C
A
A
T
A
T
C
T
G
G
C
T
A
T
T
T
21050 |
REPEAT
|
var(21023):[G:0.03]
|
var(21030):[:0.07]
A
T
G
A
C
C
T
A
C
A
A
A
A
A
T
A
G
C
A
T
T
T
C
A
T
A
T
G
A
T
T
C
C
A
C
C
T
A
A
C
A
T
C
T
G
A
A
G
C
G
21100 |
REPEAT
C
A
A
T
A
A
A
T
G
T
T
A
T
T
A
T
T
GAT AATGCAGGTG GTGGTGATAA AGTTTTGAAA
21150 |
var(21112):[T:0.06]
TCAGAAAGAC CTGGCTTCAA ATTCCACGCC TTCACTGGCC TGACTTATT
T
21200 |
REPEAT
T
C
A
T
T
C
A
T
T
T
G
A
C
A
A
A
T
A
T
T
A
T
T
T
T
G
A
A
C
A
C
C
C
C
T
A
T
G
T
G
C
C
A
G
G
C
A
C
T
A
21250
T
G
C
C
A
G
G
C
T
C
A
G
A
G
A
T
G
A
T
C
T
A
G
G
A
A
A
A
A
G
A
C
A
G
A
T
G
T
C
C
T
C
A
T
C
T
G
T
C
T
21300
T
A
G
G
C
T
C
T
T
G
T
G
G
C
C
T
A
A
G
C
C
T
A
A
A
T
T
T
C
C
T
C
G
T
C
T
G
T
C
A
A
A
T
G
G
T
G
A
C
A
21350 |
REPEAT
G
T
A
A
C
A
C
A
C
T
C
C
T
T
A
C
C
A
G
A
G
A
G
C
T
G
G
G
A
G
G
A
T
T
G
G
A
G
A
C
T
C
A
A
G
T
T
C
C
C
21400
A
A
A
A
C
G
C
C
A
G
G
A
G
C
A
C
T
G
C
G
G
C
A
G
G
T
G
A
A
A
A
G
T
A
T
T
C
C
C
T
C
A
A
T
G
GCGGA
21450 |
var(21406):[A:0.01]
AGT
G
TTTAAA TTGCTTTTAT ATCTGTAGCT CTAGATAACA CTAGTTCCAG
21500 |
var(21454):[A:0.01]
CTTAGTTAAC TCCCAGCTCC AAGCCTTCAG GACTTCATAG AGTTATTGGG
21550
GTGCTGCTCT TGGCAGTTTC CCAAAAAGCT AGAATGCAGA GGGAATCTCC
21600
TTCCCAAAAA GCTAGAATGC AGAGGGAATC TCCTTCCCAA AAGGCTAGAA
21650
CGCAGAGGGA ATCTCCTTCC CAAAAGGCTA GAA
C
GCAGAG GGAATCTCCT
21700 |
var(21684):[T:0.37]
TCCCAAAAGG CTAGAATGCA GAGGGAATGT CCTTCTCTTC TAAATGGTAG
21750
CTGTTAGTTC AAGAAAGGTT AAACATTGTG CTGTGGGGAG GCTCAGGGGT
21800
GAAGGGTGTA CTT
T
T
A
A
G
A
G
A
A
C
C
A
G
T
T
T
C
A
G
A
G
C
T
G
G
G
T
T
T
G
G
G
G
T
T
T
A
21850 |
REPEAT
A
G
C
C
C
T
A
C
C
C
T
C
T
G
C
C
C
C
C
T
T
T
T
A
C
G
A
G
C
T
G
A
C
A
G
C
C
T
T
A
T
G
C
A
A
G
C
C
T
G
21900 |
var(21875):[T:0.01]
G
T
T
G
A
C
C
A
C
C
T
G
A
A
C
C
C
A
C
G
T
T
T
C
C
A
C
A
T
C
T
G
G
A
A
A
T
A
G
A
A
A
T
GTGGGTA
21950 |
var(21927):[G:0.01]
CTAGTTATGT TGAAAGGACT CAGGTTAGAT GATAGATATG CAAATACCTT
22000
GGAAAC
C
A
G
G
A
G
T
G
T
C
C
A
G
T
C
T
T
T
T
G
G
G
T
T
C
C
C
T
G
A
G
C
C
A
C
A
C
T
G
G
A
A
G
A
22050 |
REPEAT
A
G
A
G
T
T
G
T
C
T
T
G
G
G
C
C
A
C
A
C
A
T
A
G
A
A
T
A
C
A
C
T
A
A
C
C
C
T
A
T
C
A
A
T
A
G
C
T
G
A
22100
T
G
A
G
C
T
A
A
A
G
A
A
A
A
A
A
C
G
T
T
G
C
A
A
A
A
A
A
A
A
T
C
T
C
A
T
A
T
T
T
T
T
A
A
G
A
A
A
G
T
22150
T
T
A
T
G
A
A
T
T
T
G
T
G
T
T
G
G
G
C
T
G
T
A
T
T
C
A
A
A
G
C
C
A
T
C
C
T
G
G
G
C
C
A
C
G
T
G
C
G
A
22200
C
C
C
G
C
A
G
G
C
T
C
C
G
G
G
T
T
G
G
A
C
A
A
G
T
T
T
G
TT GTAAACAATG CCATGATGCC
22250
GGCATAAGGT CGTTACCAGT ATTAGGAAGG TTCTCAGGTT TCCTCTAGCC
22300
CTTGGGCTCT TTTCCTGAAG TGCGTGTGTC TTCTGCTAGA TTTTGTGACC
22350
AATGTTGATT GCCTAATTGG GCTAACAGCA TGTTTTGGTG GCTACGAAAC
22400
TGACACAGGT GTTTTCATTT CTCCACTTAG
T
T
C
C
T
G
C
T
G
C
G
T
T
T
G
C
T
G
G
A
22450 | Exon 4
V P A A F A G 87
C
T
G
A
T
G
T
A
C
T
T
G
T
T
T
G
T
G
A
G
G
C
A
A
A
A
G
T
A
C
T
T
T
G
T
C
G
G
T
T
A
C
C
T
A
G
G
A
G
A
22500
L M Y L F V R Q K Y F V G Y L G E 104
G
A
G
A
A
C
G
C
A
G
A
G
GTAGGTAA CTGGGACTAC TAAAGAACTG TGGAGCGATT
22550
R T Q S 108
CCTGATTTTT GAGCAGGAAG AGTGACAATT CAAAACAGTA TTTGACTAGA
22600
TTCACGGCTC
C
GTAGCATCC CCTTGGGTGG GAG
G
GGGAAG GCTGACTAGG
22650 |
var(22611):[T:0.02]
|
var(22634):[C:0.16]
ACCTCTGATT CTTCT
C
TCCC TGAGCTTTGA AGGCTCTGAA AATACAGCTG
22700 |
var(22666):[T:0.33]
GGGGGACTTG CCCAGTTTTC TTATTAAGCA ATTCCTCCGC ATG
G
TGCTGG
22750 |
var(22744):[C:0.03]
CTTTCAAAGG GTGCTTCAGT GCTGTTTGCT GCACGTGCCT TGCAGCCCCA
22800
CACCCTGCAC TCCCGCCCTG CAGAGTCTGG CGCTGGAATG ACATTTTAGG
22850
TCTGGGTTCC CAGGCCTCCT GAGAGTGAAA TGTTTCATTG TTTGTCTAGA
22900
GAAATGAGAA CTAAAGCTTG CACCTTGTGA TAAGTTGTCC TGAGGAACAT
22950
ATCTTTCAGG GACCAGAAGA AAGAATGTTG GGAAAATAAG ATGCA
G
TAAG
23000 |
var(22996):[A:0.01]
ATGCAGACAT GAC
A
G
C
A
G
G
G
T
G
C
A
G
C
G
G
C
T
C
A
C
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
23050 |
REPEAT
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
23100
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
T
A
C
A
A
A
A
C
A
23150 |
var(23125):[A:0.06]
|
var(23148):[G:0.01]
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
T
G
G
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
C
A
T
A
G
G
C
T
23200 |
NOT SCANNED
G
A
G
G
C
T
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
23250
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
A
A
G
C
A
A
A
A
C
T
C
C
A
T
C
T
C
23300
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GAT
G
CAGACACGA GACTGTGAAA
23350 |
var(23331):[T:0.25]
CTGACTAGCA TCACC
A
TTGC ATTGTTTATA GATGTTGCCA GACAGAAAGC
23400 |
var(23366):[T:0.09]
CCCAAAGCAG CACAGTACCT TCCTGACATC TGGACTAGGA AATCTAGATT
23450
TTAGTAAAAT ACATGCTAAT ACTTACAGAA GAAATGTC
G
G CGTTAGAGTA
23500 |
var(23489):[A:0.07]
TGC
C
GTCAGT TCCTTAGAGA TTGCAATTCC TAATGCACTA GTATGGTTTC
23550 |
var(23504):[T:0.02]
AGGTGCCAGG AACACGTTCT GTGAGGCTGC TGCCCCAGGT GCTGACCCCA
23600
GCCTTC
C
ACA CCATTTTCCT TCCTTGTGTT CACAGCCGCT CTGTCTTTTA
23650 |
var(23607):[T:0.05]
CAATAGCACC CCTCTCTAGT GGCTAATGGG CTCTATGATT AGATAGCATC
23700
CTTCAGTAGT GATAAAGGCA GTGACATCCT AGGGAGGTCA G
C
GG
G
TGAAA
23750 |
var(23742):[A:0.12]
|
var(23745):[T:0.12]
GCGCTATATC TGGAAAACCT GAGAGCCTGT GAAGCTCAAG GACTTGACGG
23800
GGTTAGACCG TGAGCCGGGC TGCAGCTGGA AAAAGAATGA CTGTTCTTTC
23850
AGCAGATCCT TCCCTGTGCC ATCTCTTTCT TCATTCCTCT CTAGTGGCAT
23900
TCTTATTTAT CCTCTAAAAC CACAATTCCA TTATCTCTCC TATTCTTATC
23950
AACACTGCCC TAAATGATAT TCTTTATTCT CTTTTGCCCT GGAAAACCTC
24000
TATCATGCCT TTTCCCATGT GATTACCTCG TTAAGAGTG
G
GGGTGGAATG
24050 |
var(24040):[A:0.01]
TCTAGCAATG AAATAAGAGG GTCTTCTCTT TTGCCTGGCT CCCTATGCAG
24100
CCCTATCTTA CCCCCTGCAA AGTCCCAGGG ATGTGGCTCA GTCACTGCTC
24150
CTCTCTTCAT CTGTCACCAC TTGCTTGAGA TCCTACAGCT GCTTTAATTC
24200
CGAGACCATC TGCAGAACAT GACAAAATTT GTCCACCTAC CCACATGTCC
24250
TTTTAACTTT AAAG
G
CTTTA CTAACTGATT CCTATTAGGG AATGAACAGA
24300 |
var(24265):[C:0.09]
GGTGGCAAAA ATAAACAATA GGAGA
T
TGAT TTACAAGAAA TCTTTAAAAT
24350 |
var(24326):[C:0.01]
AGTAGATTTC TTC
G
GACCTC ATTGAAATAT AAATGGCCTG CCTTCTTGTG
24400 |
var(24364):[A:0.05]
TCCCTCCCTG GTCTCCCTCT TTAGGTGATA AGAAGAAGAT CCTGCCAGCC
24450
CCATAACCCG CCATCTGCGC GGGTTCTAGA CCCC
C
T
T
C
T
C
C
T
C
C
C
C
T
C
T
G
24500 |
REPEAT
G
C
C
G
T
G
G
T
A
G
G
C
A
T
T
A
C
T
G
A
T
G
A
A
T
C
A
T
G
G
T
G
C
T
C
T
T
T
C
T
T
C
C
A
G
A
G
A
C
C
24550 |
var(24542):[A:0.03]
A
A
A
C
C
T
G
G
C
C
T
C
G
G
A
A
T
C
C
T
T
C
T
T
A
A
C
A
C
A
G
ATACTGCTT AACACAACCA
24600
CTCTG
A
GCAG CTGTCATAAG TAGAAGTAAT AGATACTAGA AGAAATGT
C
T
24650 |
var(24606):[G:0.12]
|
var(24649):[A:0.04]
AAGCCTAATC TAGACCAAAA TACGGCCTGA TATAGATGCA AGCCAGAGGG
24700
GC
T
TTATGGT TAAATGCAAG GAGATTTTCA ACCCTGCCGT
C
TAGAAGCTA
24750 |
var(24703):[G:0.12]
|
var(24741):[T:0.03]
CTTGCTGAGA TCTTCTTCAG TTGGGCCCAT CTCCTCCCCA GGCCTCTCTT
24800
CTGTTCCTGG GCTATGTCAC ACTTGGACTC TGCAGACACC TAATGCTCTT
24850
G
GGACCTGCT TTAGTTCTTG ACCTCACCAA CCGAGGAGGA ATTGCT
A
GAT
24900 |
var(24851):[A:0.01]
|
var(24897):[A:0.50]
GAGATCCTTC CCCCGGAATT TCTCTCTTGA ACCCCAGATG GTCCGTTGCC
24950
CCTTTCCAGA AGTTGCTCCA GCCCTGTCCG CTTAGGAAGT TCAGTGTCAT
25000
CCTTGATCCA GTGGGTAGGG AAGACATTCC ATAATGTATG CCCCAGTCTG
25050
AGCTTCTTCC TTCAGGCTTC AGGCTGCCCT GCGAGGATTT TGCAGCTCCC
25100
TTTTTAATGC CCTCTAGAAG TTTCTGGCTC TTATTTTCAG CCCTTCATCC
25150
TACTCTCTCT GACCCCTTCC TCTATCCTGT TTA
G
TTCACC TGTAGCAGTT
25200 |
var(25184):[A:0.01]
ACTACCCAGC AGTGAAGGAT GAATCTTGGT TTCGTTTCTT TTCTCTTCTT
25250
TTCTTTTTTC TCTTCTCTTT TCCCCTTCCC TTCCCTTCCC TCCCTTCACA
25300
TCACCTCATC TCACCT
A
C
C
T
CACCTTACAT
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
A
25350 |
var(25317):[:0.88]
|
REPEAT
A
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
C
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
T
T
C
C
25400
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
T
A
T
A
C
C
T
C
A
G
C
C
T
C
T
T
G
A
G
T
A
G
C
T
G
A
G
A
C
T
A
C
A
25450
G
G
T
G
T
G
C
A
C
T
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
A
G
25500 |
var(25462):[A:0.12]
G
G
T
T
T
A
G
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
G
C
T
G
A
A
C
T
C
A
A
G
C
A
A
T
25550
C
T
G
C
C
A
T
C
C
C
C
G
G
C
C
T
C
C
C
A
A
A
G
T
A
C
T
G
G
G
A
G
T
A
T
A
G
G
C
A
T
A
A
G
C
C
A
C
C
C
25600
ATGATGCCCA GCCTGAATCT TGGTTTCTTC CCC
A
TTCATT TAAGCTATTA
25650 |
var(25634):[G:0.12]
CCTGGGCCTG AACTCAATGG CACCTGGCAC CAACTGGCAA CTGACTCTTG
25700
GTCTTTTATT ACCTACCTTC CCTAGCAGGC ACTGGGTTGC TCCCTCTTCC
25750
TATCCC
A
T
GG AGTCCTGTCC TCTGTTGGGG CTCC
T
ACTGA TCCTCTTGGC
25800 |
var(25757):[G:0.12]
|
var(25758):[C:0.12]
|
var(25785):[C:0.12]
AATATGAAGT TCTCAGCTCA ATGGTGGGTG GGCAATGACT GCCAACTCTT
25850
GAGGCCA
A
TG AACTCAGGTT
A
CCCCACTCC T
C
CTCCTCCT GAGTTGCTCA
25900 |
var(25858):[G:0.02]
|
var(25871):[T:0.16]
|
var(25882):[T:0.12]
CTCACTCCTC ATTCACTCAA
C
A
T
T
G
A
T
T
C
A
G
T
A
G
A
T
A
T
T
T
G
C
T
A
C
C
T
G
C
T
25950 |
REPEAT
C
T
G
T
G
C
C
A
G
G
T
A
C
C
A
G
G
T
C
A
G
T
T
G
C
T
G
A
A
G
G
A
G
T
A
A
C
A
G
T
G
A
A
C
A
T
G
A
C
G
26000 |
var(25953):[A:0.12]
G
A
G
T
C
T
T
T
G
T
C
C
C
C
A
A
G
G
A
G
ACCCAAGGTG TCTCCTAGAG CCAGGGGCAC
26050
ATTGCAAGAC CAAATATATT CAACTTACCA AAATAATCAT AGACCTAGTT
26100
CTCAAAAAGC AAGAAGACTG ATTCCTCGTT GTCATTTCTC CTCCTCAGCA
26150
TCAATGTTTT AGAGTCTGTG GGCCCCTCCA AGTGTGGAGT ATGGTGTTAC
26200
TTCACCAGAG TTTGAGGAGA AACATTCTTC TTTTGGAAGG CCGGGGAGCA
26250
TAGATGGATA TCAAGGCTGC
T
G
T
T
T
C
T
A
A
A
A
G
C
G
A
A
A
C
C
C
A
C
C
A
A
A
C
A
A
C
26300 |
REPEAT
A
G
T
A
T
T
A
G
A
A
T
C
A
T
C
T
G
T
G
G
T
G
C
T
T
A
T
T
A
A
A
G
A
T
A
C
A
G
A
T
T
C
C
T
G
G
G
C
C
C
26350
C
A
T
C
C
C
A
G
A
C
T
T
A
T
G
A
A
T
C
A
G
A
A
T
C
T
C
T
G
C
C
A
G
A
G
G
A
A
G
C
C
T
G
A
G
A
A
T
T
T
26400 |
var(26357):[C:0.06]
G
C
A
T
T
C
T
C
A
G
A
T
G
A
T
T
C
T
G
C
A
T
T
C
T
C
A
G
A
T
A
A
C
A
C
A
T
T
C
T
T
T
A
G
G
T
G
A
T
T
26450
C
T
T
A
C
A
C
A
C
A
C
T
G
G
A
G
T
T
T
G
G
G
A
A
T
C
G
C
T
G
AAGGCTGTTC ACTTCTCTTT
26500
TCTGAGAAAT GATTCATTCA TTTCAGAAAT ATTTGCAGAG GTCCTTATTT
26550
ATTGGAGATT TGTGGGTGGG CAGAGGAGAA ATATCTTGTC CTCACAGAGC
26600
TTACAATTTT TATTTTCTTT AGAGGTCACC AGGCTTAAAA TGACACTTCC
26650
CTAAATTCTG AAAAGAACAG ATTTTTAAAA CAAGAAGGGA CTGTAATGTT
26700
TTCTGTTCCT ACCTCGTATT TTGTTCACAT TAAGA
A
CCTG GGGTGGGAAG
26750 |
var(26736):[G:0.19]
TGGAGGAGGG GGGGTGACTG GCGGGGGGCC ACAGAGAGCT GA
G
C
T
G
G
G
G
T
26800 |
REPEAT
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
A
C
T
C
A
A
G
C
A
A
T
C
T
G
C
C
A
G
C
C
T
C
A
G
T
C
T
C
C
C
A
A
A
G
26850 |
var(26830):[A:0.05]
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
C
CACG ATGCCTGGGT GGAACTCAGG
26900
GCTCTGGATG CCTGGGCGCC CCCATCTCCC ACACTACGGC GCCTCATCCT
26950
AGAAGTGGTT AGCACCTTTG AGATGGGAAT T
A
TTTAGCAG GATGCTTTTG
27000 |
var(26982):[G:0.09]
TGTTTTCAT
G
TAAGTTTTAT GCTGCCTGTG GAGGGCACAG CTGTTTCAAA
27050 |
var(27010):[A:0.05]
A
C
TAATAACC AAATCCTGGT CTCCGAAGTC TGAAGGCATC CTTTGCCCTG
27100 |
var(27052):[A:0.15]
CAGTGC
A
A
A
G
C
A
C
G
G
G
A
T
T
C
T
G
G
C
C
T
C
A
C
A
C
A
G
G
C
A
G
G
T
C
T
G
A
A
C
T
C
C
T
G
27150 |
REPEAT
T
G
T
T
G
C
C
T
C
T
T
G
C
T
G
G
C
T
G
T
G
G
G
A
C
C
T
G
A
G
G
C
A
A
A
T
C
A
T
G
C
A
A
C
C
T
C
T
C
T
27200
T
T
T
C
T
G
T
T
T
G
C
C
T
A
G
A
T
G
G
A
A
A
A
T
A
G
G
T
T
T
A
C
A
A
T
A
C
G
C
C
C
C
C
A
T
A
G
G
A
T
27250
G
G
C
T
G
T
G
A
G
A
A
T
T
A
A
A
G
G
A
A
G
T
C
A
T
G
G
G
T
G
T
A
C
A
A
T
A
C
C
T
G
G
C
C
C
C
G
A
A
A
27300
G
A
T
G
C
T
T
A
A
T
A
A
TTTAATTC TGACCTTCCT CACTCATTTA GGATTATGTA
27350
CCAACTTTTA GAAACAATGA AAGATTAGTG AGTCTTCTGT GGTTGGTATA
27400
AAAAAAAAAT AGAAACATGA AAGAGATGTC CTCCTTGTTC AAGGGCTAAT
27450
GACCCTGGTG TGCGCTGTCT AGGCCCCCAA GGTCTTCCTT CCCTGCTCAC
27500
AGCATTTCAG GTTCTCCGCA GCTTTGCTGA GCCTGGGTCA GGTTCGGTAT
27550
CTGCCCACCA TGCTCAC
T
TG CCACAGCTGT GGCCCCATTT CCAAACTTCA
27600 |
var(27568):[C:0.17]
GAGACTTAAA GGTGCAGCTA ATGATGTGCC CGGCCTGGGG TCACATTCCC
27650
TGAGCCCTGC AGACAAGGGA GCAGGAGGCT GAGCTCTTA
T
CTTCCACACC
27700 |
var(27690):[C:0.01]
CTGTGCACAG CCTGGGAAGA GTTAAAGCAC CCTAGTCCTA TGCTGCGAGG
27750
GCCACATGCC CTGAGACCTT GGAAAAAATC CTACCTGAAT TGAAGAGCAT
27800
CACTATTTCA TCAGGAGGCG CTGCCATTTC ATTTTTCACT TCGGTTTTAT
27850
CTTGAGTGTA AAACAGCTTC GCAAATCACT TTTTCTTGTT TCTGTAATGA
27900
GCATATGGTG GCCTCATTCG TGTGATAAAT CTGAGCCACC ACGATATTTG
27950
ACTTTTCACA ATTTAATTTA TCTGAACCCT CTATTCTCTG GCTAAAAAAT
28000
ATCCCTTACT TGGACTTCTT TATTTTATTT TCAATTCCCT TACCAGCACT
28050
AGCAGGGGAC TC
T
G
T
A
C
T
C
A
T
C
T
G
C
T
G
G
C
G
C
T
G
C
C
A
T
A
A
C
A
A
A
G
C
A
C
T
G
C
28100 |
REPEAT
A
G
C
C
T
G
G
G
G
G
G
C
T
C
A
A
A
C
C
A
C
A
G
A
A
T
T
T
A
T
T
C
T
C
T
C
A
C
A
G
T
C
C
T
A
G
A
G
G
C
28150 |
var(28107):[T:0.06]
T
A
G
A
A
G
T
C
C
A
A
G
A
T
C
A
A
A
G
T
G
T
G
G
G
C
A
G
G
G
T
C
G
G
T
T
T
C
T
C
C
T
G
C
A
G
C
C
T
C
28200
T
C
T
C
C
T
T
G
G
C
T
T
A
T
A
G
A
G
T
G
C
C
A
C
C
T
T
C
T
A
C
C
T
G
T
G
T
C
T
T
C
A
C
A
T
C
A
T
C
A
28250 |
var(28226):[C:0.02]
C
C
T
C
A
C
T
G
A
G
C
A
T
G
T
C
T
G
T
G
T
C
C
A
A
A
T
C
T
C
C
C
C
T
T
C
T
T
A
T
A
A
G
A
C
C
C
C
A
G
28300
T
C
A
T
A
C
T
G
G
A
T
G
A
G
G
A
T
C
C
A
C
C
C
A
T
A
T
G
A
G
T
T
C
A
T
T
T
T
A
C
C
T
T
A
A
T
T
A
T
C
28350
T
C
T
T
T
A
A
A
C
A
C
C
C
T
G
T
C
T
C
C
A
A
A
T
A
C
A
G
T
C
C
C
A
T
T
C
T
G
A
G
G
A
A
C
T
G
A
G
A
G
28400 |
var(28399):[G:0.16]
T
A
A
A
G
A
T
T
C
A
A
C
A
T
A
T
G
A
A
T
T
T
T
G
G
A
A
G
G
G
A
C
C
T
A
A
T
T
C
A
G
C
C
C
A
C
A
A
C
A
28450
CCCTCTTTTG GGATGTTTAT TTTCCCCCTT AAGGAGCTAG TTAGGATGTC
28500
TTATCTCATG AACATGACTG TGAACAGGAA
A
ACAGGGAGA GAATGAAGCT
28550 |
var(28531):[G:0.16]
GGCCAAGGAA CAGGGCTGGT GTCAGCTAGC AGTGCTTTTC TGATGTGAGT
28600
GGGTCCCACA
G
G
G
A
G
C
T
T
G
T
T
A
A
A
A
T
G
C
A
G
A
T
T
C
T
G
A
T
T
C
A
T
T
A
G
G
T
T
C
C
28650 |
REPEAT
A
G
A
G
G
G
A
C
C
T
G
A
G
A
T
T
T
C
C
C
A
T
T
T
C
T
G
A
C
A
A
G
T
T
T
C
C
A
G
T
G
T
G
G
G
G
G
C
T
G
28700
A
T
G
C
T
G
C
T
G
G
T
C
C
A
C
G
G
A
C
C
A
T
A
C
T
T
T
G
A
G
T
A
G
C
A
AGGAG CTTGATACAT
28750 |
var(28733):[T:0.40]
AATGGCTGAG TGACTTTCAG ACTCCTGCTG TAGAAAAATT ATGAGTT
G
G
C
28800 |
REPEAT
T
G
G
G
C
G
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
28850
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
28900
G
A
A
A
C
A
C
C
A
T
C
T
C
T
A
C
C
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
T
G
T
G
G
T
G
G
C
A
G
28950
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
29000
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
T
C
T
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
29050
G
C
T
G
G
G
C
A
A
T
A
G
A
G
C
T
T
G
A
C
T
C
A
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
G
A
A
A
29100 |
var(29087):[G:0.15]
A
A
G
A
A
A
A
A
TT ATGAGTTATA TTATCAGCAT ATGGGGTGCC TTTCAAATTG
29150
ATAAAATTTC TAATATTAAA CCTGTGGATG CCAAATGCTG CTCTCTGATT
29200
ATGGCAGGAA ACGGCACTTG GCAGTACGAA GTTAGCTGTT GGGCTGAGCT
29250
GGCTCATCTT GTTGTGCGGT CCTGATTGCC TAAAGATGCC TTCCCAGGAT
29300
CTTTACTAAC AATCCTCCTG AGTCATTTGG ACTTTCCCAA CCTGTTATCA
29350
CCTCTCAGAT GGGCCAGCCA TGGAGGCAGT CAGAGGAGGG CTCTGCAGAG
29400
GGAGGGCAGA AACAGGGTGG CCTCTGCATG CCATTAGGAG GT
C
ACATCTC
29450 |
var(29443):[T:0.01]
ACTGGGGGAT GCAGTTTAGG ATTTAGTGCC TTGGAGAGAA GGATAGAGT
G
29500 |
var(29500):[A:0.08]
TATTAAAACA TGTCTCC
G
C
T
A
G
G
C
A
T
G
G
T
G
G
T
T
T
A
C
G
C
C
T
A
T
A
A
T
C
C
C
A
G
29550 |
REPEAT
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
A
G
T
G
G
A
T
T
G
C
C
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
A
A
G
A
29600
C
C
A
G
C
C
T
G
G
C
T
A
A
C
A
T
G
A
C
G
A
A
A
C
C
T
C
A
T
C
T
C
T
A
C
T
A
A
A
A
T
A
C
A
A
A
A
A
G
T
29650
T
A
G
C
T
G
G
G
A
G
T
G
G
T
G
G
C
G
T
G
C
G
C
C
T
G
T
A
G
T
T
G
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
29700 |
var(29668):[A:0.17]
A
G
G
C
A
T
G
A
G
A
A
T
C
A
C
T
T
A
A
G
C
C
C
A
G
A
A
G
A
C
T
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
29750
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
T
T
G
G
G
C
T
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
A
T
C
T
C
A
A
29800
A
A
A
C
A
A
A
G
A
A
A
C
A
A
A
C
A
A
C
A
A
C
A
A
T
A
A
CAA CAAAAACCAA GTCTCTCCCT
29850
CCACTCAAAA ATGCAAGGGC CTGTCTCCCA TTGCTGGGTG CCCAGGTCTC
29900
ATGAATGTAG A
T
ATGAATTA TTCCAGTCAG CCTCAGGAGA ATAGAATGAG
29950 |
var(29912):[C:0.49]
CCCTCAGATG CC
G
AAGCACC TTTCAGATTC CACCGGTTTT ATC
G
GCTCAT
30000 |
var(29963):[A:0.01]
|
var(29994):[A:0.22]
TTAAACTTCA CTTCTAACAC AGTCCTGCAT TACACACGTG TCTGTCGTTA
30050
TGGGCAGCTG CAGAGAGGGT CTTAATGGTC CTAATGCTCA GTGAGGATGC
30100
CCA
A
TGGTCA ACAGAACCTG CCATCTTCAG GCCATCAAGG AGCTCTGGAG
30150 |
var(30104):[G:0.03]
TTAAGGAAAT CA
T
GAGAGCA CAGAGGGGCG GGTACAGCAG AGCCCTCGTG
30200 |
var(30163):[A:0.11]
GTAATGGGTT TTGAGGTCTA GGCTCTCTTC
A
CTTGGGTTT GAAATAAGTT
30250 |
var(30231):[G:0.27]
CAATGACTAG TAATAGCTGA GACACTTCTA CCCTTCAAAT GAAGTAAATG
30300
GGAAAATGGA GCATTGTTGA GTCCAGGGAG CTATAATTTA AACCCCATAT
30350
ATCTAAAAGG GGTAACATTT TTGTGTGTGT GAAATTGGTG TCATTCGCAC
30400
TGCATCTACA GTTTTCTTTT TCCTTCTCTT CCAG
C
A
C
C
C
C
T
G
G
C
T
A
C
A
T
A
30450 | Exon 5
T P G Y I 113
T
T
T
G
G
G
A
A
A
C
G
C
A
T
C
A
T
A
C
T
C
T
T
C
C
T
G
T
T
C
C
T
C
A
T
G
T
C
C
G
T
T
G
C
T
G
G
C
A
T
30500
F G K R I I L F L F L M S V A G I 130
A
T
T
C
A
A
C
T
A
T
T
A
C
C
T
C
A
T
C
T
T
C
T
T
T
T
T
C
G
G
A
A
G
T
G
A
C
T
T
T
G
A
A
A
A
C
T
A
C
A
30550
F N Y Y L I F F F G S D F E N Y 146
T
A
A
A
G
A
C
G
A
T
C
T
C
C
A
C
C
A
C
C
A
T
C
T
C
C
C
C
T
C
T
A
C
T
T
C
T
C
A
T
T
C
C
C
T
A
A
C
T
C
30600 |
UTR
I K T I S T T I S P L L L I P 161
T
C
T
G
C
T
G
A
A
T
A
T
G
G
G
G
T
T
G
G
T
G
T
T
C
T
C
A
T
C
T
A
A
T
C
A
A
T
A
C
C
T
A
C
A
A
G
T
C
A
30650
T
C
A
T
A
A
T
T
C
A
G
C
T
C
T
T
G
A
G
A
G
C
A
T
T
C
T
G
C
T
C
T
T
C
T
T
T
A
G
A
T
G
G
C
T
G
T
A
A
A
30700
T
C
T
A
T
T
G
G
C
C
A
T
C
T
G
G
G
C
T
T
C
A
C
A
G
C
T
T
G
A
G
T
T
A
A
C
C
T
T
G
C
T
T
T
T
C
C
G
G
G
30750
A
A
C
A
A
A
A
T
G
A
T
G
T
C
A
T
G
T
C
A
G
C
T
C
C
G
C
C
C
C
T
T
G
A
A
C
A
T
G
A
C
C
G
T
G
G
C
C
C
C
30800
A
A
A
T
T
T
G
C
T
A
T
T
C
C
C
A
T
G
C
A
T
T
T
T
G
T
T
T
G
T
T
T
C
T
T
C
A
C
T
T
A
T
C
C
T
G
T
T
C
T
30850 |
var(30816):[G:0.11]
C
T
G
A
A
G
A
T
G
T
T
T
T
G
T
G
A
C
C
A
G
G
T
T
T
G
T
G
T
T
T
T
C
T
T
A
A
A
A
T
A
A
A
A
T
G
C
A
G
A
30900
G
A
C
A
T
G
T
T
T
T
AAGCTGATAG TTGAGGGGTT TTGTTAATGG CTTTTGGGGG
30950
ATTTATCTCT ATACCCACAA ACGACTAGTT TGTTTTCCTC AAACTAAATG
31000
ATAATATTAA AAATACACAT CCT
G
G
C
C
A
G
G
T
G
T
G
G
T
G
G
C
T
C
A
T
A
C
C
T
G
T
A
31050 |
REPEAT
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
A
31100
T
T
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
T
A
T
G
G
T
G
A
A
A
G
C
C
T
G
T
C
T
G
T
A
C
T
A
A
A
A
A
T
A
C
31150 |
var(31137):[C:0.01]
A
A
A
A
A
T
T
A
G
C
C
A
G
G
T
A
T
G
C
T
G
G
T
G
G
A
T
G
C
T
T
A
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
31200 |
var(31151):[G:0.05]
A
G
G
T
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
T
A
G
A
G
G
T
T
G
C
A
G
T
G
A
31250
G
C
C
A
A
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
T
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
A
31300
T
C
T
C
A
A
A
T
T
A
A
A
A
A
A
A
A
TAC ACATCTGGCT TCTGGAAAAA TTACTTGAAG
31350 |
var(31310):[T:0.01]
ATCTTTTATG ACATCCATCC CTCTTCACAC AGCCATGTGA ATTAGGTTGG
31400
TATCTTCATA TACTAGCATC GTGCCCAGCA CTTCCATGTT ATACAGTTTA
31450
AAA
T
GTTCTG TAATTCCCTG TGGGAACCTA AGATAATGCG AGGACCGTCA
31500 |
var(31454):[G:0.18]
T
AC
G
TGCCCC CAAATATTGG CAAACCAATG AATAAATGAA TGAATGAGTT
31550 |
var(31501):[C:0.01]
|
var(31504):[A:0.11]
TATGAATCGC TAACTGGCTG TATTTAATGA AGTATGTGTG TTGAGCCATT
31600
TCCCACAGTG TGGACAGATT TGTCCCACAA TATGGGCCT
C
T
T
C
C
C
A
A
A
G
G
31650 |
REPEAT
C
C
C
T
A
C
C
A
C
C
T
A
A
T
G
C
C
A
T
C
A
C
A
C
T
G
G
G
G
A
T
T
T
G
A
T
T
T
C
A
A
C
A
T
G
T
G
A
A
T
31700
T
T
G
G
G
G
A
G
A
G
T
G
C
A
A
A
C
A
C
T
C
A
G
A
C
C
A
T
A
G
C
A
CCATCTCA GTAAATGTCC
31750
CACTGGTCAC TCAGTTCATA GTGACAGTGA TCCAGCCACT GTCATGACAG
31800
GTGCCACTTG GCAGAAACAG CACAGCTTGG AAGATGGCGG GGTGTAGTCA
31850
AGATTCCAGG ATCCCCAACA GAGAAGCCAG CTCTTATAGG GGA
G
CCATTC
31900 |
var(31894):[C:0.03]
ATCAGGATTG AACTCTCAAT CGAGCTGGAC AGTAATAGGT GGGTCTGTGT
31950
TATTCCCCAG
G
TGAGTATCA TGACAGTCAC AATCCTAGGA AGGATGTGAA
32000 |
var(31961):[A:0.11]
GCCT
C
CCCCA GCTCTCCTCC AGTTGCCTGC TTGGGCAGCA GAGATGATGG
32050 |
var(32005):[T:0.03]
AATGTGGAGT CTGGCGTGGT CTGAGGCCTG AATCCATGTG CCTCATGTAT
32100
GATGCTCAGG CAAGAGGATC TCTCAATTCA AGGGAGAGGG CCTGAATGAG
32150
CCTTGCTTTC CAGGCCTGTC TGATGGTCCA GGCTGAAGCC CCTCCTGGCT
32200
TGCACTGCCA GACCTCATCC AGCAGGAGCT CCTTGGCATT GACTGCTTCA
32250
GGATAGTT
G
C TTCTGCTCTG AGTGCTCTCT AAAGAGCAGT GCTCTACCAT
32300 |
var(32259):[C:0.07]
CCAAGCTGGG CTTTTCTTTT CTTCTTGCTG ATAGGGAAGG CATGGGACAT
32350
TGCAGGATGG AAGTGGCCCC
C
AGGCCTTCT CATGCCTGGG CTTGGTTTGG
32400 |
var(32371):[G:0.03]
AAGGTGGTCA GGTGATCAAT AATCCTGATT GGCCTGGCAT TGAGGAGTTT
32450
TCCTGGGATG TGGTCCTTTC GGTTTTTTAA AAA
T
T
A
T
T
T
T
T
A
T
T
G
A
T
A
C
A
32500 |
REPEAT
C
A
T
A
T
T
T
G
T
A
G
G
T
A
T
T
T
G
T
G
G
G
G
T
G
C
A
T
G
T
G
A
T
A
C
T
T
T
A
T
T
A
T
G
T
G
T
G
T
G
32550
G
A
T
T
G
T
G
T
A
A
T
G
A
T
G
A
A
G
T
C
A
G
G
G
C
A
T
T
T
A
G
G
G
T
C
T
T
C
A
T
C
A
C
C
T
T
G
A
T
T
32600
A
T
C
A
T
T
T
C
T
A
T
G
T
G
T
T
G
A
G
A
A
C
A
T
T
T
C
A
A
G
T
T
C
T
C
A
G
T
T
C
C
A
G
C
T
A
T
T
T
T
32650
G
A
A
A
T
A
G
A
C
A
G
T
C
C
A
T
T
T
T
G
T
T
A
G
C
T
A
C
A
G
T
C
A
C
C
C
A
A
C
C
C
G
G
C
T
G
T
C
A
G
32700
A
C
A
T
T
G
G
A
A
C
T
T
A
C
T
C
C
T
A
T
T
G
A
A
C
T
G
T
G
T
A
T
T
T
G
T
A
C
C
C
A
T
T
C
A
C
C
A
A
A
32750 |
var(32729):[A:0.19]
|
var(32739):[T:0.10]
C
T
C
T
C
T
T
TGG GCTTTCAGTT TTACAACTGG GATGATCCTG GGAAAACTAA
32800
AGTAAATCAG ACACCCGACG TGTGAGCTAG GTTATAATAT GCCCAGTGGA
32850
CCCTGGGGAC ATCTTAGCTT TCAGAGG