PTGS1 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
TAAGCTCTAG TGCTAATCGG TCACCAAGCC CTGGCACTTC TGCCACCATT
50
TCTCTCATCT ACCTTCTCCC CACTCCATGC TCTTGGTCCT GCCTCATCCC
100
TGGAGGGCTG CCTCGGCACC CTGCCTGCTC TCTCAGACTC CATCCTCTCC
150
TGTATTGCAG CTGTGTTGAG ATCTG
T
GGTG CTGGTCACAG AGCCTGGCTG
200 |
var(176):[C:0.09]
CAGTGAGGGC TCAATTGCTC C
A
T
G
C
T
G
G
A
A
C
T
G
G
A
C
C
A
G
T
C
C
T
C
A
G
A
G
A
C
250 |
REPEAT
C
A
T
C
T
G
A
T
C
T
G
C
T
C
A
T
T
C
T
G
T
T
G
T
T
C
A
A
A
T
G
G
G
G
A
A
A
C
A
G
A
G
G
C
C
C
A
G
T
G
300
A
G
G
C
C
T
A
G
C
G
G
C
T
T
G
T
T
T
A
A
G
G
T
C
A
C
G
C
T
A
T
G
G
A
A
G
A
A
G
T
G
A
C
T
T
G
A
A
C
T
350 |
var(327):[A:0.09]
C
A
C
T
T
C
T
G
A
T
T
C
T
G
A
G
G
T
G
A
A
G
G
C
T
C
T
T
C
C
C
A
T
T
A
G
T
G
C
C
A
GGGCCACAC
400 |
var(384):[C:0.29]
AAGTGTTTCT TGTTTTGAGT GCAGATGGGT GGCTTGGAAG TCAGCAGGAG
450
GCACAGGTGT GGTGACTTGA TGGGCTCAGG GCCCAAAGGG AGGGAGGGCC
500
TGGGAGTGGA AGATGGAACC TCATTCA
A
GC CCGTCTCTCC TTTCTTCTCA
550 |
var(528):[T:0.02]
CCAGAAACTC CCCCTTTCTT TGGACAACTG GACCCCCACA CCTCCACCCT
600
GTCCCCATCC CTTTTGCTGA TAATCCCATC TCCTTGCCCT GTAAATGCTA
650
GGGGGCCCTT GATTTGGGGA GGAAGGGAAG GCTGAAGCCG GTCCCGGCAC
700
CCTGAGAGCC CCAGGGCCCT CCAATGCCCC ACTCCTTCTC CAGGTCTGCC
750
CTGGCTTGCT CTGTCTCCCT AGGGCAGCTG GCTTTTGTCC CAGGGGAGCA
800
TGGGAACAGC TTGGGTGAGA ATGGGGGAGG GGCTTCCCAG CAGGTTTCAC
850
CTCTCCCACC TGGCATAATT TCTACCCTGC ACCCAGTGAT GCCCAGGAGC
900
CAGCACAAGA ACCTCTGAGC TCTCCTGCCG GCTTTCCCCA CTGTGGGGCC
950
CACAGGATGG CTGGGTGTGC TGGGGAAACT GAGGGAGATG ACTTGTGGGT
1000
GCCAGC
A
CCA TGGGACTTTG GGTGATCTTG GACCTATTCC TTCCTCCTTC
1050 |
var(1007):[G:0.09]
TAGGTGCTTC CTGAGCTGGC GAAAAGGAGA GCTGGATGCT GGG
A
TTCTAT
1100 |
var(1094):[G:0.01]
AAATTCGGCG GTGGATGT
G
A GTCTAGCTAC AGCATGGACC CTGGCCAGCC
1150 |
var(1119):[A:0.01]
CTGGAATCTG AGTTCAGAGA TCTTTGAAAA A
A
TGCCTTCC GATA
A
C
T
G
A
G
1200 |
var(1182):[:0.03]
|
REPEAT
C
A
C
C
T
A
C
T
A
C
A
T
G
C
T
G
G
A
C
A
C
T
G
C
A
C
C
A
G
G
A
G
A
T
T
T
G
T
G
T
G
C
A
T
T
C
C
C
T
C
1250 |
var(1218):[G:0.08]
A
T
T
G
A
A
T
C
T
T
A
C
A
A
C
C
A
C
C
C
T
C
T
G
G
G
A
T
G
G
T
T
T
T
T
G
C
T
A
T
T
A
A
G
C
C
G
A
T
T
1300
T
T
A
T
A
G
A
T
G
A
G
A
A
T
A
C
T
G
A
G
G
G
C
T
A
G
A
A
A
A
G
A
T
A
A
G
T
A
C
C
T
T
G
T
C
C
A
A
G
G
1350
T
G
A
C
A
C
G
G
C
C
A
G
T
A
A
G
C
T
G
T
G
G
A
G
T
C
T
G
G
A
T
T
T
G
A
A
C
T
A
G
G
C
T
C
T
C
T
T
G
G
1400
A
G
T
T
T
G
G
A
G
C
C
C
G
G
T
C
T
T
T
T
CATTTCTGGC AGAGACCTGT GGCTTCAGGG
1450
GGCGGAGCCC AGCCCATGGG GGAAGTAAGT CCTTCCTGTT AGATCTGTCT
1500
GAGGAGTAGT GAGTTTCTCA TCTAGGAAAC CATCAGCAGG CCAGGCTGGA
1550
CTGCCCCATT TCTAGCCCCC TTTCTTCTCT GCAGACTGCC CTGTTTCTAG
1600
CCCC
T
TTTCT TCTCTACCCT TTTCTGTAGA GTGCGTTAGA CCCATTTTAC
1650 |
var(1605):[C:0.01]
AGAAGGGGAC TCTGAGACCC TTTCTTCTCT GCGGGGCAGG GTATGTGGTT
1700
CAGACGAGCC GC
T
T
C
C
A
T
C
C
C
C
A
G
T
T
C
T
G
T
C
C
C
T
A
A
G
C
C
C
T
G
G
G
T
G
A
C
C
T
1750 |
REPEAT
C
A
G
C
A
T
T
G
A
G
C
A
T
C
G
T
C
T
C
T
G
A
G
C
C
T
C
A
G
T
T
T
C
C
T
G
T
C
T
A
T
A
TCTAGTGC
1800
CACCAGGCAT CAGAAACGTA AGTGCTTCAA GGATCTTGGG TGAAAAGCCG
1850
CTTTAGCGGC GAGCATACAC TAATTAATAA AATGCCTTGG CCGGGGCTGG
1900
GCAGAGGAAG TAAGCGGGCA GCCG
A
G
G
T
G
A
C
A
G
C
T
G
G
A
G
G
G
A
G
G
A
G
C
G
G
G
1950 | Exon 1 |
UTR
G
G
T
G
G
A
G
C
C
G
G
G
G
G
A
A
G
G
G
T
G
G
G
G
A
G
G
G
G
A
T
G
G
G
C
T
G
G
A
G
C
T
C
C
G
G
G
C
A
G
2000 |
var(1990):[C:0.01]
T
G
T
G
C
G
A
G
G
C
G
C
A
C
G
C
A
C
A
G
G
A
G
C
C
T
G
C
A
C
T
C
T
G
C
G
T
C
C
C
G
C
A
C
C
C
C
A
G
C
2050
A
G
C
C
G
C
G
C
C
A
T
G
A
G
C
C
GTGA GTGCGACCCC GGTGCCCGGT GGGGAATTTT
2100
M S 2
CTTGGCCTCC TGGTGGAGCC TTGAATGCCA GGCTCAGCCC CTCATCTCTC
2150
TCCTCTGCAG
G
G
A
G
T
C
T
C
T
T
G
C
T
C
C
G
G
T
T
C
T
T
G
C
T
G
T
T
C
C
T
G
C
T
C
C
T
G
C
T
2200 | Exon 2 |
var(2175):[T:0.02]
R S L L L R F L L F L L L L 16
C
C
C
G
C
C
G
C
T
C
C
C
C
G
T
C
C
T
G
C
T
C
G
C
G
G
A
C
C
C
A
G
G
G
G
C
G
C
C
C
A
C
G
C
C
A
G
GTA
2250 |
var(2203):[T:0.11]
P P L P V L L A D P G A P T P 31
GGCGGCCCCA TCCCTCCCCA AGGGAATCCC CGGTCTTGCG CCCCTGGCCT
2300
GGTTTCAACC CCCTCCTTTC CCCTCCAGCG GGCCCAGCTT CCCCTTTCTG
2350
CTCGCGGTGC TGAGAAAGAC TGAGGCTGAG TCTTTTGGTG GGATGGGGGC
2400
TCCCTGAAGC
C
CCCCCGGCG GTG
T
GGCCTT GGCTAATGGG CTATCTAGTT
2450 |
var(2411):[T:0.03]
|
var(2424):[C:0.11]
CTTTCAGGGG AAACAGCAGA CTGGGATCTG GTGCCAACTT GGGGAGAAGG
2500
GACAGTCCCT ATCCATCCCC CTCACCTGTT CTGGGCCCCA GATGTCTAAG
2550
CAGCCTCTGC ACCCAACAAC CCCGCTGTTT CCTATAGGGG CCTCTTTGGG
2600
AGGAAGCCGC AGGCACCAAG GGAAATGAGT TCCCTTTCTC CAGCCTCTAA
2650
CCGTCTGGGA ACCCATCCTG ATTCCCATTG CCAGTGGAGA AGGTCTCCCC
2700
TGGTGAAGAC TTCGGGAGAA CATGGGAGAT GGAAATACAT TTAGGAGCCG
2750
GGATGCTTCA TCTGGGGTTT AAGAG
A
T
C
C
C
C
A
T
T
G
A
G
C
A
A
A
T
G
A
G
G
A
A
A
C
2800 |
REPEAT
C
G
A
G
G
C
T
C
A
G
T
A
G
G
T
G
C
C
A
T
G
A
T
T
C
C
C
C
A
A
G
C
T
C
A
C
A
A
A
A
T
A
C
A
T
G
G
T
G
G
2850
G
C
C
C
A
G
G
A
T
C
T
G
A
A
C
T
C
A
G
G
T
C
T
G
T
C
T
G
C
G
T
C
C
A
CACACT TCGCAAGGTC
2900
TTTCCACAGA AAGCTGCTTC TACCCACAAT GGACCC
G
GAG CCACTCTGGG
2950 |
var(2937):[T:0.09]
TTTCATGGGG GAGGTTGATG GGGAAATTCC GCCCTTCCCT CCCCCATGCA
3000
TGTGCCAGGT TCCAGGTGAA GGAATTCAGC TCCTC
G
CTCA GCCAACCTTC
3050 |
var(3036):[C:0.09]
CTCCCCCAGC TCGCTGCTTG TGTGTGTGCG TGTGTGTGAG CATGTGTCCC
3100
AGTTGGATAT A
G
TTTCCTCC ACCACCTAGC TGTGTAAAAT CTCTAAAATG
3150 |
var(3112):[A:0.02]
AGGCCCAGAG AGGGCAGGAG GGAGCAGAGG GAGTCCGCAC TTTCTGCTGT
3200
GATGCTCTAA GGATCTGGTG CGTGGGGGAA AGAGGAAAGA TATGTACATG
3250
GATTTTGGAT CAGACCAAGT TTCCTGAAAC GGGCTTTGGG TGGGTGGCAT
3300
TTAGGGGACC CAAAGAGAGG ACGGAGGGTG CTCTAGGAAA GGG
A
TTGCGT
3350 |
var(3344):[T:0.08]
TGAATAAAAG TCTGGTTTAT GGGAAGAGGA GGAGGAAGAC TCATGTGGCC
3400
AGCACTTTAA AGTTTACAAA GGTTGGTTGT GGACATCCAC CTC
T
T
T
G
G
T
G
3450 |
REPEAT
C
T
C
T
C
A
A
C
A
G
C
C
C
T
G
C
C
A
G
A
G
A
G
A
T
G
C
G
T
T
A
G
A
C
C
C
A
G
T
C
T
A
C
A
G
A
A
G
G
G
3500
G
A
C
T
C
T
G
A
G
G
C
C
C
A
G
A
G
G
G
A
G
T
G
A
A
G
C
C
A
C
T
T
G
T
C
T
G
A
A
T
C
C
T
C
A
C
A
G
T
G
3550
A
G
C
T
G
G
T
G
G
T
G
G
G
G
A
G
T
A
G
A
A
GGGGCTCTT CAGGTTGCCT CGCTGACCCA
3600
TCTTGTCAGT CCCTGGATCA GCCCAGCACT TCCTCTGAGG CCCCATCTGG
3650
CCTCATCCAG GCACTCTTGG TATACAGGTC CCACCCGTCT GTATTCTTTT
3700
TTAGTCCATT CACTAATGCA CAATGAGCCA TGGTCTGTGC TATTTTGTTT
3750
TTTGCCTTTT CTGTTTCCTT TTGTATAATA AATGTTTACA CGGAATTGTT
3800
TTTTTTTATC CCCAAGGGTT ATTTATGCCA GTCTTTGGCT GGGGCCTGGA
3850
GACACGGAGC TGGGAGGAGC TGACAGGCTG ATGGTGGAGC CAGAAATGCC
3900
AACAGACTGT CATCCAAGGG GACCAGGGCT GTGCGGAGCT CATGGGAGG
G
3950 |
var(3950):[A:0.13]
AGCAGGGGTA TAGGGAGCCC AGGGAAGGGA GCAGGGGTGT GC
G
G
A
G
C
T
C
A
4000 |
REPEAT
G
G
G
G
A
G
G
G
A
G
C
A
G
C
T
G
C
C
T
C
T
C
A
G
T
G
C
G
A
A
G
A
A
T
T
G
A
G
G
G
A
G
G
C
T
T
C
T
T
G
4050
G
A
T
C
T
G
A
T
G
A
C
T
T
T
T
G
G
A
C
T
G
G
A
C
C
T
C
G
A
A
G
G
A
GGTGGCG GGTGGGGGAA
4100
ACACTAAGAG ACTCGACCAG GAAACACCGT AAGGGTAATG TGGAGCAGGA
4150
GGCTGAGGTT GGATGCGTAA TGTGGGGATG AGAC
T
GGAGG CCAGAAAACT
4200 |
var(4185):[C:0.06]
GGTACCGAGG CTCCTGCAAG GATCTAGGAA AGAAC
G
AATG ACTGGTGGAG
4250 |
var(4236):[A:0.07]
TGCAGGGGCA GAAGGTCTGG GTTGCCCTCA TATTTCCAAG TCTGCGAGTA
4300
AACTGAGGGC CAAGCTACTT GGGCATCTGC CCCAGGAAGC CAAAGCCTGT
4350
CTTTTGCCTC TAGAGGCAAA GGAGATGAAG AGATGAGGGC TGCACTCACC
4400
TAAGAGGGCA GGCGGAGGGA GAGAATGCTG CTTTTGCCTC TCTGG
T
GGGT
4450 |
var(4446):[G:0.01]
GAGGAGATGG AGGCCAGCCT GGAGGCAAGG CTGTGC
C
GGG GGCGCCCTGA
4500 |
var(4487):[T:0.10]
ATGCTCAAGT ACTTCCCCTC TAGTCTCTGG ACTTGACTCA GTGCCCATCT
4550
TCTAGATGGG GATAGGGCAT GACCTGGCAA CCAGAGCTGC ATGCCAGGCA
4600
GAGGAGCCCC AGGCCAGCTG ACC
C
GGGCAC ATGGGGCAAG AT
G
CCAGCTG
4650 |
var(4624):[T:0.05]
|
var(4643):[C:0.10]
TGCCAAGGCT GCCCGGGTGC CTGCACCTGC TCTCGCCAGC ACCAGTTGGG
4700
TCTGTGGGCC GGGAGAGGGC TTCCCCACCA GCAGGCTCTT CCAGCTGCTG
4750
GGCCCAGTTG TCTGGATCTG GTG
C
GGTGGT GCTTAGGTGT GGGGACTGGG
4800 |
var(4774):[T:0.02]
GCCCAGGCCA AACCAGTCAG GGTTCCCCAC CTTTTTTTTT TTTCTCTCTG
4850
GCTGCCAGGT CCCCAGAGAC TCTCTAAATA TTACTCTTTA GGGGATTTGG
4900
GTCCTGCCTC TTCACTGGGC AATCTTGCAG CCTGACACCT CTGCATCCTG
4950
GAGGACTTGG TGTTCCCTGG CTGTGCCTGT CCCCTAGTCA CGCTCAGTCC
5000
TGGACCTGGA GCCCTGACTT TTGGGCTAGG GGGTGTTCCT TGCCCAAACC
5050
CTTGGAAAGG TCCTGGAACC AGGCAGTTCT GGACAGTCCT CATCTGTGGG
5100
GATGGGGACT AGCAGCTTGG CCTTTGGGCT GCGTGTGTCT GG
T
ATGCAGC
5150 |
var(5143):[C:0.20]
GTGGTGTGCT GATCATCTCT GCCTCCGCGT GTCTTGGGGA CTCAGTGAGA
5200
GCAAATGGGA AGGTTCTCTG CTGATGGGGC AGTTGTGGGA GGGTTGTATT
5250
GATACAAATA ATGGAGAGGG ACAGATTGGC TCTACCCAGA GTAGAGGGCC
5300
TGGACGTCGA AAGGAAGGCC TCCTTTAGCC CGCCTGCTA
A
A
C
C
C
C
C
T
T
C
A
5350 |
REPEAT
T
G
G
G
A
T
A
T
A
C
A
G
A
A
A
A
A
T
G
A
G
G
C
T
C
C
A
G
A
G
G
T
G
G
G
A
G
G
G
A
C
T
C
A
C
C
C
A
A
G
5400
A
A
T
G
C
A
C
A
G
C
C
A
G
T
A
A
G
A
G
C
A
G
CCA
C
TCTC TAATACAGCT CTCCCAAGCA
5450 |
var(5426):[T:0.01]
ACTACTTGGT GCCTGGCCCT GTGCTGAGTA TGGGGGACTC AAAGTGAATT
5500
AGACTTGGTA CCTGCATCTC CTTGGTTTTC TTTCTTGATG AACAGGGGTG
5550
TC
C
T
C
C
A
C
T
G
A
G
C
A
T
A
G
A
A
C
T
G
A
G
T
T
G
G
C
G
T
G
A
A
A
A
C
A
T
G
C
A
G
G
A
T
T
G
A
A
5600 |
REPEAT
|
var(5580):[A:0.22]
G
T
T
A
G
A
C
C
G
A
A
G
G
A
A
G
G
C
C
T
T
C
C
T
G
TACGA ATACTTCCTA AAGATCTGGT
5650
TGTGGCAGGA GATGGTGATC CCCCTGGGGT CCTGGTTTCA TTCGTTCTGG
5700
ATTTTCAAGG TTCACTTTGA AGGAATGTGA CAAATCCAAC TCAACTGGGT
5750
CATCCTCAGT CTGCATCAAA GCGACTCTCC CTTTCCATCC CTTCCCCAAA
5800
TCCAGTCCTG GGTACCTCCA
G
G
A
G
T
A
G
G
A
G
G
A
G
G
A
G
G
G
A
G
A
T
T
A
A
G
T
C
T
T
5850 |
REPEAT
G
G
C
T
C
C
G
C
A
A
C
T
T
C
A
A
A
G
C
A
G
T
G
G
G
G
T
C
T
G
G
G
C
A
A
G
C
C
T
C
C
T
G
C
T
T
T
C
T
C
5900
T
G
G
G
C
C
C
T
A
C
A
T
T
C
C
T
C
A
T
T
A
T
G
C
A
A
T
G
G
G
G
A
G
T
C
T
C
A
C
C
T
A
C
C
T
C
T
C
T
T
5950
A
G
G
G
A
G
T
G
C
T
G
G
G
G
A
G
A
T
A
A
A
T
G
A
G
C
G
TGG GTGTGGAAGG TTGTGGACTT
6000 |
var(5977):[A:0.02]
GGTCGGCTGG AGCCCTGGCT TTCTGGCTGG GCTGTGATGG TCAGGCTGTA
6050
GTCTAGTGGC ACCCAGTCTC CTCTCCGCCC ACCCTGACAC CTTGGGGCAC
6100
CAGCGGCAGG
C
CCACTGTTG TCCTTCCTGG GAGAACTTTT CCTGCCCCAG
6150 |
var(6111):[A:0.02]
AGCAGTGGTG TTTATGGAAA GAACGTGGCG GGGGAGGCGG GAGGGGGGAA
6200
GCTGGA
T
GGG CCGG
A
CTGGG AGGGAGGAGC CTCAGCTCCC GCACAGCCTC
6250 |
var(6207):[C:0.16]
|
var(6215):[C:0.13]
TCTTGGCAGG GAGGGTGTGG GCAGCCGTTC CAGCTTCAGC GTCTGGAGCT
6300
TGTGGCTCTT CTGCCTGCC
G
AGGCAGAGCT CTAGGGCCA
T
GGCGGGAGGC
6350 |
var(6320):[A:0.05]
|
var(6340):[C:0.07]
CTTCCGGCTC CACCTCA
G
AC AGCTGTTGAG GGCCTGGAAG
A
TGAGGGACT
6400 |
var(6368):[A:0.03]
|
var(6391):[T:0.07]
CCTTTTGGTC AGGCTGGAGG TGACCAATCT CCTCACTTCA TTTTATTTAT
6450
TCCACAAACA TTCGTTAAGC TCTGGCTACC ACATCTGGAT CCCAGACCTG
6500
GTTAAGCCCC AACTGTGTGC ATAGCCTGTG CTGGGGGAAG AGAAAGCCTT
6550
AAGGGAAGCG GGGGTCCCTT CTCCTGGAAG CTTATGGTGG AGAAGAGCAG
6600
GTTGAATTGG AACCCGGAGC CAGGGCAAGG GAGAGTGGGA GGAGGGAGTG
6650
TGGACATTTG GGGAAGACTT CTTGGGGAGG CAAGGCGTGG GCTCAGCTGA
6700
TTTGGAGGAA ATGTATTAAG GAGGCTAACA GCCTGGATGA AGGATGGAGA
6750
TGCTGAGGGT TTGGGGCTAA GGGAGGGGCT GGCGCAGAAT GTTGGAGCTG
6800
CACGGACCTC TGGAGTTCAT TTTGAGATCC CTGCTGTGGC AGGGATGGGG
6850
AAATTGAGCC TAGGGGAGGC CTAACCCCTG TGCCCTTAGA GTGGTAGAAC
6900
TAGACCGTGA GTCCTAGCGG AC
C
TTGTGTG CCAGGGTTGG GAGCTGGGCA
6950 |
var(6923):[T:0.02]
GTGGGTGCTA CAGGGGCTCC TGGGCAGGTG AGAGAGCCAG GCCAGCAGGA
7000
GGGGCAAGAA GAAGAGTTCT AGCAGGGTGA CAAGTCCTTT CTTGGGGGAA
7050
CCAGACCTCT GAGCCAGCAC GGGGGCTGCT CCAGAGGCTT CTTGGCCTTT
7100
CTGGGCCTGT GGCTGGGGGA GGCGGGGGCT GGGGTACTGC CAGGCCCTTT
7150
CCCTGGATC
C
TGCCTGCCAG GTTTGCCTGT GGCTGCCTGA TAAAGCCTTT
7200 |
var(7160):[T:0.01]
TTGTCCAGCC TTCTTCCCCT GACCCCTCCC TCCTACACCC CTGCTGGGGC
7250
CATTGTGGGG CTGTGGGGAG TTGCCAGGGC TTAAGCAAAA CTATTTGCAT
7300
GATTCTTGTG GTCCTTGCTT GTGTGTGTGT GTGTGTGTGT GTGTGTGTGT
7350
GTGTGTGTGT GTGTATTTGA GGTGGTGTTG CCGTCTTCGA AGTGGGGACC
7400
AAGAGGACTC TGCTGCCCAG GTCAAGCCCT GTGCTGTGAA GTGAGGAGTG
7450
AGGAGACTGA GACCAGGGCA GGGGATAGGG GGCAGGTCTT GCCCAGGGTC
7500
ATGCTCTCTG ATCCTAGCAC CCTGAGATGA CAGCATTTCA CCCTCAGCTG
7550
CTCTGGCCTT TCACTACCCT TTTGACCTGC AATAACCAGT TGCACAAAGA
7600
ATCCATATTC CCTGTAACGT TGGCTCTGAG CCCAGATAAG GAAGTATGTT
7650
TGCAGAAAGG AGCCCGGCGT TTTCTGTGTA AGGTCAGAGA TGGAGCCTCC
7700
TG
C
C
A
G
G
C
G
C
T
A
G
G
A
G
T
T
T
T
T
G
G
T
C
T
G
C
C
C
A
G
C
T
C
T
G
T
T
C
T
G
T
T
T
C
C
T
T
G
7750 |
REPEAT
G
C
C
A
A
G
T
T
A
T
C
A
C
C
T
G
T
C
C
C
T
G
A
A
C
C
T
C
A
G
T
T
T
C
C
T
T
C
A
C
T
G
A
A
C
A
G
G
G
T
7800
G
G
T
G
G
G
G
G
T
G
A
T
G
G
T
GGATC CTACTGAACC TGAGGAGTCT GTAACTTTGC
7850
TGCTAAAGAA TCACTGAGGC AGATTTAGCA AGGGGGTGGT GGTC
T
G
A
G
G
G
7900 |
REPEAT
A
T
C
T
G
G
G
T
T
A
G
A
T
G
C
C
A
A
G
A
G
G
G
A
T
T
T
C
C
T
T
A
T
A
G
AGTTT CTCCAGGAGG
7950
CAGCAGGGCG GATGCCAGAG CTCCATGCAC CCTCCCAGGA GATTTTCTAG
8000
CCCTATCTCT CCTATTCCCT TGGTCTGTGA CCTTCTTCTG GATCCTAGAG
8050
CCCAGACCCC ACCCTGATGT GGGCCAAGTC TGATTCCATC AGGAATGGGG
8100
GCTGAGGCAG CTGAGACCTT GGAGTCCCCC TCCTCCTGCA CACCCACCCT
8150
CTGTCCCCAG GGTTCTGGAA AACTTCTTTC CTTAGACTTG GCTGCTGAGG
8200
CTGTGGGGGT GGAGTGGAAG TGAAGGGATG GGCATTTGGT CTGGTGAGAC
8250
TTGTGGGGTG ATAGGTCTGG CTTTCCCTTT TTCTGGCTTC AATTTCCCCA
8300
TCTGCAATGT GGACATTATG ATACCTGCTC TTCTCTACCT TCTGCAGAAA
8350
TGGAGGAATG GTGAGGGATC TCGTTTTCCT AGTGTTCATG GGGTGGTGGT
8400
CTGGGAGAAG TCCCCGTCCT CGTCCTCGTC CCTTTTCTGA CCGCCCCCCC
8450
ACCCCCCGCC CCGGCCTGCT CTTGCTACTG AACTCTGACT AGGCAGGAAG
8500
TGAACGCTCT AGAAGCCCGT GGCTGAGGAG TTTTATCAGC TCTTTCTTAA
8550
CTTTCAGTGT CACAGCCGGG GAATCTTCTC CTGCCGCCGT TTGGTGGCAA
8600
TAGGGAGGGA GGGGG
C
GCTT CCCCTGGGGG CCTGATGTGG GCTAGGCTGG
8650 |
var(8616):[T:0.02]
AGTTCCAGAG CAGGGCCTGG AAATGTCAGG ATGGGTGGTT TATGTTCACA
8700
GAGGTGGGAA CAGGGGTCCC CTTGGGGGAA CCCTGAAGCC CTGGCACCCA
8750
GTGATTCAGG ACGGAGCTGC GACTTAAGTC CATGCCTCTG GCCCCTCATT
8800
CCCCCATCAG GGGCTAGATG GGGGTCAGGA GGCCACCCTA GCATGGTCTC
8850
TGACCTCCAT TTCTCACCCA CAG
T
G
A
A
T
C
C
C
T
G
T
T
G
T
T
A
C
T
A
T
C
C
A
T
G
C
C
8900 | Exon 3
V N P C C Y Y P C 40
A
G
C
A
C
C
A
G
G
G
C
A
T
C
T
G
T
G
T
C
C
G
C
T
T
C
G
G
C
C
T
T
G
A
C
C
G
C
T
A
C
C
A
G
T
G
T
G
A
C
8950 |
var(8902):[A:0.09]
|
var(8937):[A:0.01]
Q H Q G I C V R F G L D R Y Q C D 57
T
G
C
A
C
C
C
G
C
A
C
G
G
G
C
T
A
T
T
C
C
G
G
C
C
C
C
A
A
C
T
G
C
A
C
C
A
T
C
C
GTGAGCTGGG
9000 |
var(8983):[T:0.01]
C T R T G Y S G P N C T I 70
CCTTCAGCCC TCACTCCTTC C
G
TCTTGAGC CCTTCTGCTC CCCGGGCCCT
9050 |
var(9022):[A:0.02]
TTCTCCTAGA CCCTAACTTC CTACCCTCCT CTCTGACCAT GGCCCTGTTC
9100
TCCTTCCTTG CCTGGTTCTG CCCCTCTCCC TGACCTGGCT TCAGCATGAG
9150
CTCTCGCTCT TGGTCCACCC TCACTCCCTG CTTCTGAGTT CCATG
G
TGAG
9200 |
var(9196):[A:0.01]
TCTTCACCAC ATGCCCTGGC CCCTGTCCTC ACGCCCGGTT CTGTCTCTGT
9250
CATGTGTCAT TGCTCCCAAG GTTCCATCCT TACCCACTTC CCCATAGGTG
9300
CTACTCTGTT CCACCCTGGC CCTTGTCCTC AGTGCCCCAT CTTCCACCCT
9350
GGCTACTTCT GGTTCTGGTA GGAGGGACCA ACTGAGTGAC T
G
CCATTGCC
9400 |
var(9392):[C:0.26]
CCTGCAG
C
T
G
G
C
C
T
G
T
G
G
A
C
C
T
G
G
C
T
C
C
G
G
A
A
T
T
C
A
C
T
G
C
G
G
C
C
C
A
G
C
C
C
9450 | Exon 4
P G L W T W L R N S L R P S P 85
C
T
C
T
T
T
C
A
C
C
C
A
C
T
T
C
C
T
G
C
T
C
A
C
T
C
A
C
G
G
G
C
G
C
T
G
G
T
T
C
T
G
G
G
A
G
T
T
T
G
9500
S F T H F L L T H G R W F W E F 101
T
C
A
A
T
G
C
C
A
C
C
T
T
C
A
T
C
C
G
A
G
A
G
A
T
G
C
T
C
A
T
G
C
G
C
C
T
G
G
T
A
C
T
C
A
C
A
G
GT
9550
V N A T F I R E M L M R L V L T 117
GGGTGTGGGG CAGGGCCCCC TGACCTGGGG GAGCAAGCAA GCCTGCTAGT
9600
CCTTTTGGAT TCTTGGCATC TGATAAGGGT AGTGGGTGGG GAGAGTCTAT
9650
GATGCCTGAT AAAATAAGCC CCAACCCAGG AGGAGGCAAG AACTGGGATG
9700
GAGCTGGGGG TGGAAACACC CTTGTCACCG TTATTTTTGC TCTCTGCAG
T
9750 | Exon 5
V 118
G
C
G
C
T
C
C
A
A
C
C
T
T
A
T
C
C
C
C
A
G
T
C
C
C
C
C
C
A
C
C
T
A
C
A
A
C
T
C
A
G
C
A
C
A
T
G
A
C
T
9800
R S N L I P S P P T Y N S A H D 134
A
C
A
T
C
A
G
C
T
G
G
G
A
G
T
C
T
T
T
C
T
C
C
A
A
C
G
T
G
A
G
C
T
A
T
T
A
C
A
C
T
C
G
T
A
T
T
C
T
G
9850 |
var(9843):[T:0.02]
Y I S W E S F S N V S Y Y T R I L 151
C
C
C
T
C
T
G
T
G
C
C
T
A
A
A
G
A
T
T
G
C
C
C
C
A
C
A
C
C
C
A
T
G
G
G
A
A
C
C
A
A
A
G
GTAAAAT
9900
P S V P K D C P T P M G T K 165
GGGGTGAGGA GCTGGGCCTG GGGATTACAG GAGGTGCTCA GTTCTTCTCT
9950
TTGGGAAAAA TCAGGCGAAG AACAATTATT GACCCAATTC TGCAGATGGC
10000
TAGACCAAGG CAAGACATAT GACATGTCCA GAGCCTGGGC TGAGAACAGG
10050
CAAGGGCAGC AGAGGGTCTT GCCTGAGGTC ACCTAGAGTC AGACCAATGT
10100
TTCCATAGTT CCAGGGTGCC TCTTTGCTTG ATCCTTTTCT AATGATCAGT
10150
TGGGTCCTGC CGGGGTGGAA GTGACTTAGA AGTTGAGATG TAGGAAAGAA
10200
TAGTGAGCTA TTTATTGGGT GCTGTCTCTG TGTTTGGGTC TTTACAGATG
10250
TAAATAGTTT TACATGCTTC ACCAGTGTAA GGTACAAATA AGCCACATTT
10300
TTTTCTTTCG TTACTCAAGA CTTCACTTAG CCACACTGGC AGGGGTCTTC
10350
CTTGTAAGAC CTTCCCATGC CACCTGTAAT TATCCAAAAA CCTGGGATAT
10400
TA
T
TCATTTC AGACCCATCA GTTCAGCATC AAGTACAGAG AGGACAAGAG
10450 |
var(10403):[C:0.14]
AGGCTCATCA GTCCACTGCT GCTATAC
T
CC A
G
TTCCTGCC ACATGGTGGC
10500 |
var(10478):[A:0.02]
|
var(10482):[T:0.14]
ACTGTTGAAT GCCAGTCCTG TGCAGCCTCA TGGTTATGTG CTTTTTTGGG
10550
TTCAAAACCT TGCACCATGT CCCTGCTTGG GTCTCAAGAG CACTACTGTG
10600
ACGGTTTTCC ATCATATGGT TAGCTGCTTT TCCCAAAGCA TGACTATTCT
10650
ACCAGGATAG CTGAGTCTTG CCAACTTTGC TGAAATCATG CTTGCCCAGT
10700
GTCAGTGAGT GATGATTCCA AATTACGGTT GACAGATCAC TCCCTCTAAC
10750
TTCCCTTTTG GTGGATTTTC TTTAGGGGTA CTTGATATTT TT
T
CCTGCCA
10800 |
var(10793):[:0.05]
GAGGAACCCA GTCAGCCATC TTAATCCAAG TAATTTCCAT TGATCTTGAA
10850
CCTTCAACAT CAGGGCTCAC ATCTTGATGC ATTGTGAAGA GATGCCTTTA
10900
CCAGAACTCA AAAAATTCTA TTCCTTTCTG TGAGGGCAAT TGGGTGACAA
10950
CTCATTTGAC ACTGACATAA TTAAGGAAGG CCTCTCAATA CTTATTCTAA
11000
GGATGACTTG TCTTTATGCC AGACATAGAA AGATTGGCAT CATTTAAAAT
11050
AGGTT
G
ACAC ACCTATTTTA AGGGGAGCAA GCAAGCCTGC TAGTCCTTTT
11100 |
var(11056):[C:0.05]
GGACTCTTGG CATCTGATAA GGGTAGTGGG TGGGGAGAGT CTATGATGCC
11150
TGATAGGTGG T
G
G
T
G
T
G
G
T
G
G
C
A
C
A
C
G
T
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
11200 |
REPEAT
|
var(11177):[A:0.31]
G
G
T
T
G
G
G
G
T
G
G
G
T
G
G
A
T
T
G
C
T
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
A
A
G
T
C
C
A
A
C
C
T
G
G
A
11250
T
G
A
C
A
T
G
G
T
G
A
G
A
C
A
C
C
T
T
G
T
C
T
A
C
A
A
A
A
G
A
A
T
A
C
A
A
A
A
G
T
T
A
G
C
T
G
G
G
T
11300
G
A
A
G
T
T
G
T
G
T
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
A
A
G
G
T
G
G
G
T
G
11350 |
NOT SCANNED
G
A
T
C
A
A
T
T
G
A
G
C
C
C
A
G
G
A
G
G
T
C
G
A
G
G
C
T
G
T
A
G
T
G
A
G
C
C
A
T
A
A
T
T
G
C
G
G
C
A
11400
C
T
G
C
A
C
T
C
T
G
G
C
C
T
G
G
G
C
A
A
T
A
G
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
T
A
A
A
T
A
11450
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
G
G
T
T
G
G
C
A
A
A
C
T
A
C
11500 |
REPEAT
A
G
C
C
T
G
C
A
G
G
C
C
A
A
A
T
T
C
G
G
C
C
C
A
C
C
T
C
T
C
C
A
T
T
T
T
T
G
T
A
A
A
T
A
A
A
G
T
T
T
11550
T
A
T
T
G
G
A
A
C
A
C
A
G
C
C
A
C
A
C
A
C
A
T
T
T
G
T
T
T
A
T
G
T
G
T
C
A
T
C
T
G
T
G
A
C
T
G
C
T
T
11600
T
C
C
C
G
C
T
A
C
A
A
T
A
G
C
A
A
A
A
A
C
T
G
A
A
T
A
G
A
T
G
T
G
A
C
A
T
G
T
C
T
G
T
A
T
G
G
T
C
T
11650
G
C
A
A
A
G
C
C
T
A
A
A
A
T
G
T
T
T
A
C
T
A
T
C
T
G
G
C
T
T
T
T
T
C
C
A
G
A
A
A
A
A
G
C
T
T
G
C
T
G
11700 |
var(11693):[T:0.05]
A
C
C
TATGATT TAAAAAATTC TACC
C
A
C
T
G
G
T
T
C
T
C
T
G
C
C
A
T
G
C
T
T
A
C
A
T
T
11750 |
REPEAT
A
T
C
T
C
T
C
G
C
A
G
T
C
C
T
C
A
G
A
T
T
C
A
C
T
G
T
A
T
C
A
A
A
T
G
G
G
T
A
T
C
A
T
T
T
G
C
C
C
C
11800 |
var(11757):[T:0.33]
T
T
T
T
T
A
A
A
G
A
T
G
G
A
G
A
A
A
T
T
G
A
C
A
C
C
C
A
G
A
G
A
G
A
T
G
A
G
A
T
G
A
T
T
T
A
T
C
T
G
11850 |
var(11843):[C:0.31]
T
A
T
T
C
A
C
A
C
A
G
C
T
A
G
C
A
A
A
T
A
G
C
A
T
A
G
T
C
A
G
T
T
G
C
A
A
A
C
A
C
A
G
G
C
T
A
C
C
T
11900
T
G
A
C
T
C
AGGG CAAGG
G
AGTT CATGTTTGTT TTTTTCTGTT TCTTTATTTC
11950 |
var(11916):[A:0.01]
TTTTTGGTGA AATG
T
T
T
C
A
T
T
A
T
G
G
A
A
A
A
A
T
T
G
C
A
A
A
G
A
T
A
C
A
C
A
A
A
A
G
T
12000 |
REPEAT
|
var(11973):[C:0.01]
T
G
A
G
A
G
A
A
A
A
G
C
A
G
A
A
T
G
A
A
C
T
A
T
G
T
A
C
C
C
A
T
C
T
T
T
C
A
G
T
T
T
C
A
A
C
A
T
T
T
12050
A
C
C
C
A
C
A
G
T
T
T
C
T
T
C
A
T
C
T
T
A
T
T
T
C
A
T
T
T
C
T
C
C
C
C
T
C
T
C
A
T
A
T
T
T
T
T
A
T
A
12100 |
var(12080):[G:0.31]
A
A
G
T
A
T
T
T
T
A
A
A
T
C
A
A
A
T
T
C
T
A
A
A
A
A
T
C
A
T
G
C
C
A
C
T
T
A
A
A
A
T
T
C
T
A
A
A
A
A
12150
T
C
A
T
G
C
C
A
C
T
T
C
A
C
C
C
A
T
A
A
A
T
A
C
T
T
C
TAG GGTCTTTTGG TAGAGAGTGG
12200
GTTACTTGGT GGTGGTGGGG AGGTGGTCCT GAGGAGGCCA CTCTGGGCTT
12250
CCTGCTTGGG CCAGTTTGCC TGGTGAGCCC AGATGTCCCC AGGGCAGCAA
12300
GATCCAGATA GGAGAAGCTA CTGCTGTTTC CTACCCCCCA ACCAG
G
G
A
A
G
12350 | Exon 6
G K 167
A
A
G
C
A
G
T
T
G
C
C
A
G
A
T
G
C
C
C
A
G
C
T
C
C
T
G
G
C
C
C
G
C
C
G
C
T
T
C
C
T
G
C
T
C
A
G
G
A
G
12400
K Q L P D A Q L L A R R F L L R R 184
G
A
A
G
T
T
C
A
T
A
C
C
T
G
A
C
C
C
C
C
A
A
G
G
C
A
C
C
A
A
C
C
T
C
A
T
G
T
T
T
G
C
C
T
T
C
T
T
T
G
12450
K F I P D P Q G T N L M F A F F 200
C
A
C
A
A
C
A
C
T
T
C
A
C
C
C
A
C
C
A
G
T
T
C
T
T
C
A
A
A
A
C
T
T
C
T
G
G
C
A
A
G
A
T
G
G
G
T
C
C
T
12500 |
var(12488):[A:0.32]
A Q H F T H Q F F K T S G K M G P 217
G
G
C
T
T
C
A
C
C
A
A
G
G
C
C
T
T
G
G
G
C
C
A
T
G
G
G
GTG AGTACCTAGG AGGGGCTCAG
12550
G F T K A L G H G 226
GACTGCTCTG GACCTAATTT GGCACGCGTA TGTCATCGAC AGTGGGCCGG
12600
CACCCTGGTG ACCTGAGGGA ACCCCTCTCT GTCCACAG
G
T
A
G
A
C
C
T
C
G
G
C
12650 | Exon 7
V D L G 230
C
A
C
A
T
T
T
A
T
G
G
A
G
A
C
A
A
T
C
T
G
G
A
G
C
G
T
C
A
G
T
A
T
C
A
A
C
T
G
C
G
G
C
T
C
T
T
T
A
A
12700 |
var(12669):[A:0.01]
H I Y G D N L E R Q Y Q L R L F K 247
G
G
A
T
G
G
G
A
A
A
C
T
C
A
A
G
T
A
C
C
A
G
GTAGTGCT GGGCCAGGGG GTAGGGCAGA
12750
D G K L K Y Q 254
GGGAGGGGTC TCCCATGGTC TTCCCTGGCA AAGACTGCTT GGGGCGGGGG
12800
TCTGGGTCAT GTCCTGAGAG GGCCAACCAC GGGAGTGGGA
G
GCTTGTGCC
12850 |
var(12841):[A:0.03]
AGGAGCGACA GTATACGCTG GGAGGAGGCA GCAGGTATGA GAAGCCAGGG
12900
AGGAGCAGAC GTGGCCTCCC ATGTCAGCCA GGGAGGTGGA TTTTGGAGCT
12950
CAACAGGAGA TGAACATTTG TAGTCTGCAT TTATTTATTT AATTATTCCA
13000
CAATATTAAT TGGACACGAG AATATACCTG GCACAGGTGA TTGAGTAGTG
13050
ACC
A
TTATAG TTAATGGGCC CTGCCCTCAA AAAACCACAG GCAAACTCTA
13100 |
var(13054):[G:0.28]
GGATGTTCAT TCTATGAG
G
G CTTTTGTTTA AAT
C
A
G
A
A
C
G
G
T
C
C
A
A
C
A
G
A
13150 |
var(13119):[C:0.24]
|
REPEAT
A
A
T
A
T
A
A
T
G
T
G
A
A
C
C
A
C
A
T
A
C
A
T
A
G
T
T
A
A
A
A
T
T
T
T
C
T
A
A
T
G
T
C
C
A
T
A
T
T
A
13200
A
A
A
G
A
G
G
G
A
A
A
A
A
G
A
A
A
C
A
G
G
T
G
A
A
A
T
G
A
T
T
T
T
A
A
T
A
A
T
A
C
A
T
T
T
T
A
C
T
T
13250
A
A
T
G
C
A
A
T
A
T
G
T
C
C
A
G
G
T
A
A
T
T
A
G
C
A
T
T
T
T
A
G
C
A
T
G
T
A
A
T
C
A
A
T
A
C
A
T
T
A
13300
T
T
A
A
T
A
A
A
A
T
A
T
G
T
C
A
C
A
T
T
C
T
T
T
T
T
T
C
A
T
G
C
T
G
A
A
G
C
T
T
C
A
A
A
A
T
C
T
G
G
13350
T
G
T
A
T
A
T
T
T
C
A
C
A
C
T
C
A
C
A
G
G
G
C
A
T
C
T
C
A
A
T
T
T
G
G
A
T
G
C
T
C
T
A
T
T
T
T
C
A
C
13400
T
G
G
A
G
T
G
A
T
C
T
A
A
T
C
T
G
T
A
T
T
A
A
G
A
T
T
T
C
A
T
A
A
A
A
T
G
T
A
C
A
G
C
T
G
A
A
T
A
A
13450
G
T
A
G
A
G
T
G
A
C
A
T
G
T
C
C
G
A
C
T
T
G
T
T
C
C
A
C
G
C
A
T
A
C
T
T
A
A
A
G
G
T
T
T
T
C
C
A
A
T
13500
A
G
C
T
G
A
A
G
T
A
T
C
A
G
T
T
T
T
A
A
A
A
T
T
C
A
A
A
T
A
G
A
A
A
T
T
A
A
G
A
T
A
A
A
C
C
T
A
A
A
13550 |
REPEAT
T
A
A
A
A
T
A
A
A
T
T
A
A
G
T
A
A
C
A
T
T
C
A
G
T
T
C
T
T
C
A
T
T
C
A
C
A
C
T
A
G
C
C
A
A
A
T
T
T
C
13600
T
A
G
T
G
C
T
C
A
G
T
A
G
C
T
A
C
A
C
G
T
G
G
C
T
A
G
T
G
G
C
T
A
C
C
A
T
A
T
T
G
G
A
T
C
G
T
A
C
A
13650 |
var(13615):[C:0.02]
|
var(13637):[C:0.10]
AATCTTAGGC AAGCACCAAA ACAAA
G
T
T
T
G
A
T
G
C
T
G
A
A
T
C
T
T
T
A
G
G
G
C
T
A
13700 |
REPEAT
A
G
A
A
C
A
G
T
A
C
T
T
G
G
C
A
T
G
T
A
G
T
A
G
T
C
T
C
T
T
G
G
C
A
T
G
T
A
T
T
T
A
C
T
G
A
A
T
G
A
13750
A
T
G
A
A
GAAGC TGCCATATAA TTAGGTACAC TTGTAGCTGC CACCAAGGAG
13800
AAGCTGTGAG TGCCACTAGA GTGTTTGGAT GATG
G
G
T
A
A
A
A
C
T
T
C
C
C
T
A
G
13850 |
REPEAT
G
A
A
G
T
T
A
C
A
A
A
T
A
A
A
C
C
C
A
G
A
G
T
T
G
C
A
T
A
A
A
G
G
A
T
G
A
G
G
A
G
G
A
G
T
T
A
G
G
G
13900 |
NOT SCANNED
A
T
G
C
T
A
A
G
A
A
T
G
G
G
A
G
A
G
G
G
C
T
T
T
C
C
A
G
G
T
A
G
A
G
G
G
T
T
T
A
G
C
A
A
G
T
A
C
A
A
13950
A
A
G
C
T
T
A
G
A
G
G
T
G
G
A
G
A
A
C
A
G
C
T
T
G
G
T
G
A
C
T
T
G
G
A
G
G
G
A
G
T
G
T
A
A
A
A
A
T
G
14000
G
G
A
G
C
G
T
T
T
G
C
T
G
A
G
C
C
T
A
G
T
G
A
T
G
G
A
G
C
G
T
A
A
G
A
A
T
G
A
C
T
T
T
A
C
A
G
G
A
A
14050
G
G
T
G
G
A
G
A
T
G
T
C
T
G
T
G
G
G
G
A
C
C
G
T
G
T
T
A
A
G
G
A
A
T
T
C
T
A
C
T
T
T
C
T
G
C
C
A
A
G
14100
A
G
C
A
G
A
G
A
G
A
G
T
A
T
T
T
G
G
A
A
A
G
G
T
T
T
T
A
A
G
T
C
A
G
C
T
C
A
T
G
A
T
G
C
A
A
G
A
T
T
14150
T
G
T
T
G
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
G
T
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
C
T
T
T
14200
T
T
T
G
C
T
T
G
G
G
T
G
C
A
G
T
G
C
A
G
A
G
A
C
T
G
G
C
C
T
G
T
C
T
G
G
G
G
A
T
A
G
G
A
G
T
G
G
A
A
14250
A
T
A
G
G
G
A
G
C
C
C
A
C
T
T
A
G
G
G
A
A
A
G
G
A
G
T
C
A
G
A
G
T
G
G
A
A
G
A
T
G
A
G
C
G
G
G
G
G
T
14300
T
G
C
T
T
G
A
G
G
T
A
G
T
G
G
T
G
G
T
A
G
A
G
A
T
G
G
A
G
A
G
C
A
G
G
G
G
A
C
T
G
A
T
T
T
T
A
A
G
A
14350
G
A
C
A
T
T
T
T
G
G
A
G
G
T
G
G
A
A
T
C
A
A
C
A
G
C
C
T
T
G
G
C
T
G
A
G
G
G
G
A
A
C
T
G
G
C
A
G
C
T
14400
G
G
A
G
G
C
A
G
G
A
G
T
G
G
G
A
G
G
G
A
G
T
TGGTTGTG GGCAGCTG
T
G GGTGACCCCC
14450 |
var(14439):[C:0.36]
AACCCCAGGT TGCCAGGTGG CCCCATCCCA CAG
G
T
G
C
T
G
G
A
T
G
G
A
G
A
A
A
T
14500 | Exon 8
V L D G E M 260
G
T
A
C
C
C
G
C
C
C
T
C
G
G
T
A
G
A
A
G
A
G
G
C
G
C
C
T
G
T
G
T
T
G
A
T
G
C
A
C
T
A
C
C
C
C
C
G
A
G
14550
Y P P S V E E A P V L M H Y P R 276
G
C
A
T
C
C
C
G
C
C
C
C
A
G
A
G
C
C
A
G
A
T
G
G
C
T
G
T
G
G
G
C
C
A
G
G
A
G
G
T
G
T
T
T
G
G
G
C
T
G
14600
G I P P Q S Q M A V G Q E V F G L 293
C
T
T
C
C
T
G
G
G
C
T
C
A
T
G
C
T
G
T
A
T
G
C
C
A
C
G
C
T
C
T
G
G
C
T
A
C
G
T
G
A
G
C
A
C
A
A
C
C
G
14650
L P G L M L Y A T L W L R E H N R 310
T
G
T
G
T
G
T
G
A
C
C
T
G
C
T
G
A
A
G
G
C
T
G
A
G
C
A
C
C
C
C
A
C
C
T
G
G
G
G
C
G
A
T
G
A
G
C
A
G
C
14700
V C D L L K A E H P T W G D E Q 326
T
T
T
T
C
C
A
G
A
C
G
A
C
C
C
G
C
C
T
C
A
T
C
C
T
C
A
T
A
G
GTGAGGACTC CAGACCTGCC
14750
L F Q T T R L I L I 336
CTGCCCTGGA AGGTCATTCC CTCCATCCTG AGAAGTTGGG GGCGGGGGGG
14800
TACTTA
G
AGG TGGAG
G
C
T
G
G
G
A
T
T
A
G
A
A
T
C
C
T
C
A
C
C
C
T
T
C
T
G
C
T
T
A
G
T
G
G
14850 |
var(14807):[A:0.13]
|
REPEAT
C
T
A
G
A
A
G
A
C
C
T
T
G
A
G
C
A
G
G
C
C
C
C
T
C
A
A
C
C
T
C
T
G
T
G
A
G
C
C
T
C
G
G
T
C
T
C
C
A
A
14900
A
T
C
T
G
T
A
C
G
T
T
G
G
G
G
T
G
A
A
C
G
A
T
G
A
T
T
G
T
A
A
G
G
A
T
T
T
A
T
T
G
A
G
A
T
C
A
T
G
A
14950 |
var(14908):[A:0.02]
A
T
G
G
G
A
A
G
G
C
A
A
C
T
A
G
C
A
C
A
T
A
G
C
A
G
G
C
C
T
T
C
A
G
A
A
A
A
T
A GATGACTGTG
15000
ATGGTTGATT ATTAGCTGGG TGACTCAGCA CATTTGATTA GCCACCCTGA
15050
GTCTCGGTTT CCCC
T
GTGTG CTGC
G
CCCGG ATGCATACTT GTGGTCCCCA
15100 |
var(15065):[C:0.32]
|
var(15075):[A:0.01]
GCACGTGCAG GGTCAAACTG TAACTTGCCC GGCCTTCAGG AATCTTCATG
15150
TTCCCTTCCC TGCATGT
A
TC TAC
C
TTCCTG CAGTTTGGTA GCTTCTAGGT
15200 |
var(15168):[G:0.02]
|
var(15174):[T:0.09]
GACTCAGGGA CAGGATATTT TTGTGTTCCC TATGGGGGCG AGTCTGCAAC
15250
CTAAAATGTC AGATGGTTTC CTGCCTGGGA GCTTGGCCCC TGACATCCCT
15300
GTCCAGACCA TGTTCGCTCT GAGTCACCAG TAACTCCCTT CCCCCACCTC
15350
TGGCACCACT GGGCATGGCT GGTCCCAATT ATAGAGCCTA ATTCAC
T
GGA
15400 |
var(15397):[C:0.07]
GCCATGAAGA GCCAGGCATT GGGAATAGGA ACAGTCATTA GAGGGAAGAG
15450
GGGCTGGTTC TGAAGTTTCA GCGTTGCAAA GACCTTGACC TGAGAGAGCT
15500
GGAGGCTGTC CAGCACACTG GCTGGAGATG AAGCTGTGAC CAAAGGCAGG
15550
ACCCTAGGGC AC
C
A
T
T
T
A
A
C
T
C
C
C
C
T
A
C
A
A
C
C
T
C
A
T
G
A
G
C
C
G
G
G
T
A
T
G
A
T
15600 |
REPEAT
|
var(15591):[T:0.35]
T
A
C
C
C
T
G
T
G
A
A
A
A
T
C
A
A
G
A
T
T
C
A
G
A
G
A
G
G
T
G
A
A
G
T
G
A
A
C
T
C
T
C
C
A
G
G
G
A
C
15650 |
var(15639):[T:0.36]
A
C
T
C
A
G
C
AGA TGGAGACTTG AGGTC
T
GGTT GCCACCAAAA TCTATGCTAC
15700 |
var(15676):[G:0.37]
TTCCACTCCA TCACAAAGGG GGCTCTTCTT GAATGGGAAG GGGTTGCAAA
15750
CCTGAGTCTG ATCTGTGACA TGTGAGTATT GGAAAGGGAT TCCCCCTCGC
15800
G
TCTACACTT AGTATTCCTA CTTTTGGCTG ACATATATGG ACACCCCGTC
15850 |
var(15801):[A:0.10]
T
T
A
T
G
C
C
A
G
G
C
A
C
T
G
T
G
C
C
A
G
C
A
G
T
T
T
T
G
C
T
G
T
A
T
T
C
A
T
T
G
T
C
T
A
C
T
T
C
T
15900 |
REPEAT
C
T
C
A
A
C
A
A
C
C
C
T
A
A
T
A
T
A
G
T
A
T
T
G
C
A
T
T
G
A
T
G
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
T
15950 |
REPEAT
G
A
G
A
T
G
G
A
G
T
C
T
T
G
T
T
C
T
G
T
T
G
C
C
C
A
C
A
C
A
G
T
A
G
T
G
C
A
A
T
G
G
C
G
T
G
A
T
C
T
16000
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
G
A
G
C
A
A
T
T
C
T
C
G
T
G
T
C
T
C
A
16050
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
16100
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
A
T
G
A
T
C
16150 |
var(16145):[C:0.36]
T
T
G
A
A
C
T
G
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
T
G
G
C
A
T
C
C
C
A
A
A
G
T
T
C
T
16200 |
var(16158):[C:0.36]
G
G
G
T
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
A
G
C
G
C
C
T
G
G
C
C
G
C
A
C
T
G
A
T
A
T
T
A
T
T
A
T
A
A
16250 |
var(16228):[C:0.36]
|
REPEAT
C
A
C
A
C
A
T
T
T
T
A
C
A
G
T
T
A
A
G
G
A
A
A
G
T
G
A
G
A
T
T
C
T
G
A
G
A
G
A
T
T
A
A
G
T
A
A
C
T
C
16300
A
G
C
C
C
A
A
G
C
T
C
A
G
G
T
G
G
C
T
G
G
A
A
A
T
G
G
T
A
A
A
G
C
C
A
A
G
A
T
T
T
G
A
A
T
C
C
A
G
G
16350 |
var(16332):[T:0.01]
T
C
T
G
C
T
G
A
T
C
C
C
A
C
A
G
T
C
T
G
T
A
G
C
T
C
CAGG TC
G
ATTTCCA AAAGCCAATT
16400 |
var(16383):[A:0.36]
TGTCTAATGG CTAATTGGCC TGCATATCAG TTTCTTTCAA TATCTAGTTG
16450
CCCAGTTTTA ATTTTGTTAC AGAATGTTCA ATTTGCATTT TCCCTGGCTT
16500
TTTGCTTTCT AGCTGGTTAT AGCTACAAAT GGGGCAGAGG AAAAACTTAT
16550
TTATAAGAAT CCTGTT
A
TAT AAGAACATAT AGGAAA
T
ATG TTTTTTGAAA
16600 |
var(16567):[G:0.33]
|
var(16587):[C:0.10]
TATATTTAGG GCTAG
G
CTCC CCTTCT
G
TCC TCAGTATTCT CTTTTGCCAC
16650 |
var(16616):[T:0.20]
|
var(16627):[A:0.01]
TGCAGCAGCT CTGAGTGGTC TCCTTGAAGT CCCCCTCTAT CACCGAGGGT
16700
GTCAGCATGA TGACAGCTCT CACCAGTAAA TCCTCCACTT TTCCATCTTT
16750
TGTAGTCTCT CCACCTTCTT TTAATGGGCT TCAGGAGGGA GGTCATAAGA
16800
CCAATTCTTG GACACCTCCT TTGCATGTCC TGCTTAGCTG GGCCTAGAAC
16850
CTCCCTCTGA AATGTGGGAG TAGCTGGTGC TCTTGTCTTG AGACCTCAGT
16900
CAAAATAGAC CAAAAGTTCT ATTTTCACAT CCTGTTACAA AGAGACAAAA
16950
TGGAAGAGGC CAAACAAAAT TAAACATCAA CAGCAA
G
G
C
C
A
G
G
T
G
T
G
G
T
G
17000 |
REPEAT
G
C
T
C
A
C
A
C
T
T
G
C
A
A
T
T
C
C
A
G
G
G
C
T
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
A
G
A
G
A
A
G
T
G
17050
C
T
T
G
A
G
A
C
T
T
G
C
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
A
T
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
C
A
T
17100
C
T
C
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
A
G
A
A
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
T
A
C
A
17150
C
C
T
G
T
G
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
17200
C
G
G
G
A
A
A
G
T
T
C
A
G
G
C
T
G
A
A
G
T
G
A
G
C
T
G
T
A
A
T
T
A
T
A
C
C
A
T
T
G
C
G
C
T
C
C
A
G
C
17250
T
T
G
G
G
T
G
A
C
A
G
A
C
C
A
A
G
A
C
C
T
T
G
T
C
T
G
T
A
A
A
A
A
T
A
A
A
A
A
T
A
A
A
CATCAAC
17300 |
var(17267):[T:0.10]
|
var(17292):[G:0.11]
AGCAACAACA ACAATAAAGA GACCAAA
A
GC AAGCACCTCT CATGAACTGG
17350 |
var(17328):[G:0.35]
CCTGCTTTCC AAGCTGGGCA TCTAAATCAC TGTGCTTGGC TGACCCTATT
17400
TCCAATCCTG CCCTGCCCAG
G
G
G
A
G
A
C
C
A
T
C
A
A
G
A
T
T
G
T
C
A
T
C
G
A
G
G
A
G
T
17450 | Exon 9
G E T I K I V I E E 346
A
C
G
T
G
C
A
G
C
A
G
C
T
G
A
G
T
G
G
C
T
A
T
T
T
C
C
T
G
C
A
G
C
T
G
A
A
A
T
T
T
G
A
C
C
C
A
G
A
G
17500
Y V Q Q L S G Y F L Q L K F D P E 363
C
T
G
C
T
G
T
T
C
G
G
T
G
T
C
C
A
G
T
T
C
C
A
A
T
A
C
C
G
C
A
A
C
C
G
C
A
T
T
G
C
C
A
T
G
G
A
G
T
T
17550
L L F G V Q F Q Y R N R I A M E F 380
C
A
A
C
C
A
T
C
T
C
T
A
C
C
A
C
T
G
G
C
A
C
C
C
C
C
T
C
A
T
G
C
C
T
G
A
C
T
C
C
T
T
C
A
A
G
G
T
G
G
17600
N H L Y H W H P L M P D S F K V 396
G
C
T
C
C
C
A
G
G
A
G
T
A
C
A
G
C
T
A
C
G
A
G
C
A
G
T
T
C
T
T
G
T
T
C
A
A
C
A
C
C
T
C
C
A
T
G
T
T
G
17650
G S Q E Y S Y E Q F L F N T S M L 413
G
T
G
G
A
C
T
A
T
G
G
G
G
T
T
G
A
G
G
C
C
C
T
G
G
T
G
G
A
T
G
C
C
T
T
C
T
C
T
C
G
C
C
A
G
A
T
T
G
C
17700
V D Y G V E A L V D A F S R Q I A 430
T
G
G
C
C
G
G
GTA AGCCCCAGAG GAGTGCTGGT GAGGGCAGGT GGGCTGAGGG
17750
G R 432
ATCCAGCAGA CCTGGGTCCA AATTC
C
A
G
G
T
T
C
T
T
C
T
T
C
T
G
T
A
A
A
A
T
G
G
G
G
17800 |
REPEAT
C
T
G
A
T
G
T
C
A
C
T
T
C
T
A
C
A
G
G
G
C
A
G
T
T
G
T
A
A
G
C
A
T
T
CCTGTG TGAGTTCATT
17850
GGTTCATTTG TCCATTCCAC AA
T
A
C
C
A
G
A
C
A
T
T
A
C
T
C
C
A
G
G
T
A
C
T
G
G
A
G
A
17900 |
REPEAT
T
G
T
A
G
T
G
G
G
A
A
C
A
A
G
A
C
TTT TGTGGTTCTT GGCTCATCTT TTAGTGCTCC
17950
CACCCTAGAA AGTGATGGCA GTCATACGAC AGCTGACAGC ATTA
G
G
G
C
C
C
18000 |
REPEAT
T
T
A
C
T
G
C
G
T
G
T
C
A
G
G
C
A
C
T
G
T
T
C
T
A
A
G
A
G
C
T
T
C
T
C
C
T
A
T
G
T
T
A
TCAGAAT
18050
TCTAAGAGTA TGTTATAAAC CATAGTAGAA AAGCCCACCA TGCTCTGGGA
18100
GTCAGGAAGG GACATCTGAC CCAGAGTTGC GGGTTATGGG AAAAGAAGGG
18150
ATGTCCAAGC AGAAATTGGA AGGAGGGATA GAGATTTCCC AGGGTAAGAG
18200
GTGGTGTTAG TGGCAGGGGA TGGCTGTGTT CCAGATAGAG AGGACGGCAT
18250
GGGTGAAAGG CATGGAAGTC AGAGGACATG GCAGTTTGAG GAACAGAAGG
18300
ACATTCAGGG CATGGTAATG TATGTAACAG TGCCCGCCTA TGGTGTTTAT
18350
TAAATCATAA GCCTCCGCTC
T
G
G
G
C
T
G
A
A
T
T
G
T
G
G
C
T
C
T
T
T
T
A
A
A
G
T
T
C
G
18400 |
REPEAT
T
A
T
G
T
T
G
A
A
A
T
C
C
T
A
A
C
C
G
C
C
A
G
A
A
C
C
T
T
A
G
T
A
T
G
T
G
A
C
T
G
C
A
T
T
T
G
G
A
G
18450
A
C
A
A
G
G
T
C
T
T
T
A
A
A
G
A
G
G
T
A
A
T
T
A
A
G
T
T
T
A
A
T
T
G
A
G
G
T
C
A
T
T
A
G
G
C
T
G
G
G
18500
C
C
C
T
A
A
T
C
C
A
G
T
G
T
G
A
C
T
T
A
T
A
A
G
A
A
G
A
A
G
A
G
A
T
T
A
G
G
T
C
A
C
A
C
A
C
A
C
A
G
18550
A
G
G
G
A
A
G
G
C
C
A
C
A
T
G
A
A
G
A
T
G
T
A
G
G
G
A
G
A
A
G
A
A
A
G
C
C
A
T
C
T
A
C
A
A
G
C
C
A
A
18600
G
G
A
A
A
G
A
G
G
C
C
T
C
A
G
G
A
G
A
T
A
C
C
A
A
C
C
C
T
G
C
T
G
A
C
A
C
C
T
T
G
A
T
C
T
T
G
A
A
C
18650
C
T
C
T
G
G
T
C
T
C
C
A
G
A
C
A
G
A
G
G
A
A
A
T
A
A
T
T
T
C
T
A
T
T
G
T
T
T
G
A
G
C
C
A
C
T
C
A
T
T
18700 |
var(18654):[C:0.24]
|
var(18666):[G:0.36]
|
var(18699):[G:0.23]
C
T
G
T
G
G
T
A
C
A
T
T
G
T
C
A
T
G
G
C
A
G
C
C
C
T
A
G
C
A
A
A
C
A
A
A
C
A
C
A
TTCTCTTTCC
18750
CTGGAATTCC CAGCCAAC
G
C CTTCCTCAAT CTCCCCTTCT CCACATTCGG
18800 |
var(18769):[A:0.11]
AAGCTCCCAT CTGCTTCATC GCAGTCTCTG GCTCCCCTGT TGCCTCACAG
18850
TCCTCTGCTT CTCTCTAATC CTTGTCCCTA AACCCTGTCA TGAAGCTGTG
18900
GCACACATGG ATTTCCATTT CCTTCTGGTA ATTTGACTGA AATTAGCATT
18950
TGCTGCCCCG GTGGGCAGCT GCTGGCTGCT TTATGGCCTC TTTGTCGGTT
19000
TCTTTATGGT TCTTTGTGGG GACACAAGAC ATGAACAGAG ACAATAGCCT
19050
TTGTGTGAGG CTGGATGGTT TTCAGAACGT TTTCAAGGAA TGACCATGAT
19100
GATGTACGTG AAAAGCCCCG GC
G
TCGTACC TGGCACAAGG CAGAAAGGCC
19150 |
var(19123):[A:0.02]
GCAGAGATGT ATGGACTGTC AAGA
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
A
19200 |
REPEAT
|
var(19177):[G:0.06]
|
var(19199):[A:0.10]
A
A
T
A
G
A
G
A
T
G
G
G
G
T
T
T
T
G
C
C
A
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
19250 |
var(19213):[A:0.10]
G
C
T
C
A
A
G
C
G
A
T
C
T
G
C
C
C
G
C
C
T
A
G
G
C
C
T
C
T
C
A
A
G
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
19300
G
ACTCTCAGG ATATTAAGAA GAGTGAGTGA TGATAAGACA GGGCTTCCCC
19350
TGATAACCAT TGTCCATGGC TACCCTCTCA GGGG
T
T
C
C
C
A
T
G
T
G
A
C
C
A
A
T
19400 |
REPEAT
A
C
T
G
A
G
A
T
A
A
C
A
G
C
T
T
T
G
C
A
T
A
G
T
T
T
A
T
C
C
C
A
T
T
T
A
A
A
T
T
G
A
C
C
A
C
A
G
C
C
19450 |
NOT SCANNED
A
T
A
T
C
A
G
G
T
A
G
A
T
G
C
T
C
T
T
C
C
C
T
T
C
C
C
C
A
T
T
T
T
T
A
C
A
T
A
T
G
C
G
G
G
A
A
C
T
C
19500
A
A
A
C
T
T
A
G
C
T
T
G
A
A
T
A
G
C
T
G
C
C
C
A
A
G
G
T
C
C
C
T
A
T
A
T
T
A
G
T
T
T
C
C
T
C
A
G
G
C
19550 |
REPEAT
T
G
C
T
G
C
A
A
C
A
A
A
G
T
A
C
C
A
C
A
A
A
C
T
G
G
G
A
A
G
C
T
C
A
G
A
G
C
A
A
C
A
G
A
T
G
G
A
G
G
19600
C
T
A
G
A
A
G
T
C
T
G
A
A
T
T
C
A
A
G
G
T
G
T
C
A
G
C
A
G
T
G
C
C
A
T
G
T
T
C
T
C
T
C
T
C
A
A
G
G
C
19650
T
C
T
A
T
G
C
C
T
C
C
T
T
G
G
C
A
T
C
T
G
G
T
G
G
T
G
G
C
C
G
A
C
A
G
T
C
C
C
T
G
G
C
A
T
T
C
C
T
C
19700
A
G
C
T
T
G
C
A
G
A
G
G
C
A
T
C
G
C
T
C
T
A
G
T
C
T
C
T
G
C
C
T
T
T
A
T
C
A
T
C
C
T
G
T
G
G
T
G
C
T
19750
C
T
C
C
C
T
G
A
A
C
T
T
G
T
C
T
T
T
C
C
T
C
A
T
T
T
T
A
T
A
A
A
G
A
C
A
C
C
A
G
T
T
A
T
T
G
G
A
T
T
19800
G
G
A
G
C
C
C
A
C
C
C
T
A
A
T
C
C
A
G
T
A
G
G
A
T
C
T
C
A
T
C
T
T
A
A
C
T
T
G
A
T
T
A
C
T
T
T
T
G
C
19850
A
A
A
G
A
C
T
T
C
A
T
T
T
C
C
A
A
A
T
A
A
G
G
A
T
G
C
A
T
T
C
A
C
G
G
A
T
G
C
A
G
A
G
A
G
T
T
A
G
G
19900
G
C
T
T
C
A
A
C
A
C
A
T
A
T
T
T
A
A
T
A
T
T
T
T
A
G
G
G
A
A
C
A
C
A
A
T
T
C
A
A
C
C
C
T
C
A
A
C
A
G
19950 |
REPEAT
C
C
C
C
A
C
A
G
C
T
T
G
T
A
A
A
G
C
T
G
T
A
A
T
T
G
G
C
A
C
C
A
T
C
C
T
C
T
G
C
T
T
G
C
T
T
T
G
C
T
20000
C
A
T
A
T
T
A
T
T
T
C
A
T
C
C
A
A
C
C
A
T
G
C
C
T
T
T
C
T
T
T
T
T
T
G
C
C
C
A
A
T
T
A
T
A
G
T
T
G
T
20050
T
G
A
T
C
A
A
A
A
T
G
A
C
T
A
T
C
T
C
T
T
A
A
G
C
A
T
G
A
A
C
G
T
T
A
T
T
A
T
T
T
C
A
T
C
C
T
A
A
G
20100
C
A
C
C
A
G
A
G
C
T
T
T
C
T
T
T
T
C
T
T
T
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
A
C
20150 |
REPEAT
A
A
T
C
T
T
G
C
T
C
T
C
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
A
T
T
T
T
G
G
C
T
C
A
20200
C
T
G
T
A
A
C
C
T
C
T
A
T
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
A
C
C
T
G
C
C
T
C
A
G
T
C
T
C
C
C
20250
A
A
A
T
A
G
C
T
G
G
G
A
T
T
A
C
T
G
G
C
A
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
T
G
T
A
20300
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
A
G
T
C
T
T
T
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
20350
C
C
T
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
T
A
A
G
G
T
G
C
T
G
G
G
A
T
T
A
20400
C
A
G
G
C
A
C
A
A
G
C
C
A
C
T
G
T
G
C
C
T
G
G
T
C
A
G
C
A
C
C
A
G
A
G
C
T
T
T
C
T
T
T
A
G
A
C
T
A
A
20450
T
G
C
G
C
C
T
T
A
A
C
T
G
T
T
A
G
T
A
A
T
C
A
G
A
A
T
C
T
T
T
T
T
C
T
G
C
A
G
C
T
T
T
T
T
T
A
T
C
T
20500
T
G
C
C
A
G
G
T
T
A
C
C
T
G
G
G
C
T
T
T
G
A
G
T
T
C
T
A
T
T
T
T
C
C
C
T
C
C
C
T
T
C
A
C
A
G
G
G
G
G
20550
T
T
A
C
A
C
T
A
C
C
T
C
T
T
G
G
T
G
T
A
A
T
T
C
A
A
C
GGA CTGGGGAGCA GTGTGAGCCA
20600
CAAAAGAGGT CCTCTTGGCC CATTCCACAC TTCAAAGATG AGGAAGCT
G
C
20650 |
REPEAT
C
G
G
A
T
G
T
G
G
T
G
G
T
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
G
G
C
A
G
T
T
T
G
G
G
A
G
G
C
T
G
T
G
G
T
20700 |
var(20663):[C:0.11]
|
var(20695):[C:0.11]
G
G
G
A
G
G
A
T
C
A
T
T
T
G
A
G
A
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
T
A
T
A
G
T
20750
G
A
G
A
C
C
T
C
A
C
C
T
C
T
A
C
A
A
A
A
A
T
A
A
A
A
T
A
A
A
A
C
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
20800
T
G
G
C
A
C
G
T
G
T
C
T
G
T
A
G
T
C
C
T
A
G
C
T
A
C
T
T
G
A
G
A
A
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
T
20850 |
var(20810):[C:0.11]
G
C
T
T
G
A
G
C
C
T
G
A
G
G
A
A
G
T
T
G
A
G
G
C
T
A
C
A
C
T
G
A
G
T
C
A
A
G
A
T
C
A
T
G
C
C
A
C
T
G
20900
C
A
C
T
C
C
A
G
C
C
A
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
A
G
T
G
T
C
T
A
A
A
A
A
A
A
A
A
C
C
C
A
C
A
20950 |
var(20936):[T:0.08]
A
A
A
A
A
A
A
A
A
T GAGGAAGCTG AGACTCAGAG GGGCTTCCTG AGA
G
AGCATG
21000 |
var(20994):[C:0.10]
ACAGCAGCAG GCCCGGGGCA GGTCTGCAGC ATCACAACTG CTAGGCTGCC
21050
CAACACTCTC CATCCTAGCT CAGAAGGGAC TCCCACTGGA AGCTCTTGTC
21100
CCAGGAACTT ACCCAGGCTC CAGGACAGCC TGGCCTGGCT CCCAGACCAC
21150
TGCTGTGCTT CTCTCTCGGC AG
A
T
C
G
G
T
G
G
G
G
G
C
A
G
G
A
A
C
A
T
G
G
A
C
C
A
C
C
21200 | Exon 10
I G G G R N M D H 441
A
C
A
T
C
C
T
G
C
A
T
G
T
G
G
C
T
G
T
G
G
A
T
G
T
C
A
T
C
A
G
G
G
A
G
T
C
T
C
G
G
G
A
G
A
T
G
C
G
G
21250
H I L H V A V D V I R E S R E M R 458
C
T
G
C
A
G
C
C
C
T
T
C
A
A
T
G
A
G
T
A
C
C
G
C
A
A
G
A
G
G
T
T
T
G
G
C
A
T
G
A
A
A
C
C
C
T
A
C
A
C
21300
L Q P F N E Y R K R F G M K P Y T 475
C
T
C
C
T
T
C
C
A
G
G
A
G
C
T
C
G
T
A
G
GTGAGCAGCT GTTTCCTG
G
A
T
G
C
A
G
T
C
C
C
T
21350 |
REPEAT
S F Q E L V 481
G
C
C
C
T
T
G
A
G
G
G
A
C
T
G
G
C
A
G
C
A
A
A
G
T
C
A
G
G
G
A
G
A
C
A
T
C
A
A
G
G
A
A
A
T
A
G
A
A
C
21400
G
G
G
A
C
A
A
T
A
C
A
T
G
C
G
G
C
A
A
T
G
T
G
T
A
A
C
A
A
C
C
A
G
A
C
T
T
A
T
A
A
T
G
G
G
C
G
T
G
G
21450
A
A
G
T
G
C
T
G
T
G
C
C
A
G
G
G
T
G
G
T
A
A
A
T
A
A
G
C
C
T
G
C
T
T
G
G
G
G
A
G
A
G
A
A
G
G
T
G
A
C
21500
T
T
T
T
C
A
G
C
T
G
G
G
T
T
T
G
G
A
G
A
A
C
A
A
A
T
G
G
C
A
T
T
T
T
C
A
G
T
G
G
G
A
G
A
A
G
A
G
A
G
21550
G
G
A
G
G
A
G
T
G
T
T
T
T
A
G
G
C
A
G
A
G
C
A
A
T
A
G
A
A
A
G
T
A
C
A
A
A
G
G
C
T
G
C
C
G
G
G
C
A
A
21600 |
REPEAT
G
G
T
G
G
C
T
C
G
C
G
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
C
A
G
G
C
G
G
G
T
G
G
A
21650 |
var(21644):[A:0.01]
T
C
A
C
G
A
G
G
T
C
A
G
G
A
A
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
A
T
G
A
A
A
C
C
C
C
G
21700 |
var(21665):[G:0.26]
|
var(21674):[T:0.09]
|
var(21688):[T:0.04]
|
var(21697):[A:0.11]
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
A
G
G
C
A
G
G
C
G
C
C
T
G
T
21750
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
G
A
G
A
A
T
G
G
T
G
T
G
A
A
C
C
T
G
G
G
A
21800
G
G
C
A
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
T
G
A
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
21850 |
var(21825):[C:0.01]
G
A
C
A
G
A
G
C
G
A
G
A
C
A
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
G
A
A
A
G
T
A
C
A
A
A
G
G
C
A
T
A
G
A
G
G
21900 |
var(21864):[T:0.11]
|
REPEAT
T
C
A
G
A
C
A
G
C
A
G
G
T
A
T
C
T
A
G
G
G
A
A
A
C
A
G
T
C
A
T
A
G
A
T
G
T
G
G
C
T
G
G
G
G
C
A
A
G
G
21950
A
G
C
T
T
A
T
G
T
T
G
T
G
G
G
A
A
T
G
A
T
T
A
G
T
G
A
T
G
G
G
A
G
G
T
T
G
G
G
G
C
C
A
A
A
C
C
G
T
G
22000
T
A
G
AATCTTG GTTTTCATAC TAAATATTTT GAGTTTTATT TGGTCTA
G
TG
22050 |
var(22048):[A:0.11]
CTTTCTAAGT ACCCACTTAC GGGCCAGC
T
G
C
A
T
A
A
A
A
A
T
C
A
T
T
T
A
G
A
A
A
G
22100 |
REPEAT
C
T
G
A
T
T
A
A
G
A
T
A
C
C
A
A
A
T
C
T
C
A
G
A
T
G
C
C
T
C
T
C
C
T
A
C
G
G
A
T
T
C
T
G
A
T
T
C
A
A
22150 |
var(22120):[C:0.11]
|
var(22137):[A:0.11]
C
C
A
G
C
C
T
G
G
G
T
G
G
T
G
C
C
C
A
A
G
A
A
T
C
T
G
C
G
T
ATTCATA
T
G
A
A
T
A
A
A
G
T
A
T
A
22200 |
NOT SCANNED
T
A
T
A
C
A
T
A
T
A
T
A
T
G
A
A
T
A
T
A
T
A
T
A
T
G
A
A
T
A
G
A
G
T
A
T
A
T
A
T
A
C
A
T
A
T
A
T
A
T
22250
C
A
A
T
A
T
A
T
A
C
A
T
A
T
A
C
A
T
A
T
C
A
A
T
A
C
A
T
A
T
A
T
A
C
A
T
A
T
A
C
A
C
A
C
A
C
A
T
A
T
22300
A
T
A
T
G
T
G
T
G
T
G
T
A
T
A
T
A
T
A
T
A
C
T
A
T
A
T
A
T
A
T
A
C
A
T
A
T
A
T
A
T
A
T
A
T
A
C
A
T
A
22350
T
A
T
A
T
A
T
A
T
A
C
A
T
A
T
A
T
A
T
A
T
A
C
A
T
A
T
A
T
A
T
A
T
A
C
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
22400
T
A
C
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
T
T
C
C
C
C
C
A
A
T
A
T
C
C
T
C
A
G
A
T
G
T
T
G
G
G
C
A
G
22450
C
C
A
A
G
T
T
T
C
C
A
G
C
C
C
T
T
G
T
C
A
C
A
T
A
C
A
A
T
G
G
G
G
A
G
C
C
ACT GAAGCAGGTG
22500
TGACATGGCC CATGAGAGTT CCCAGTGGAG GATGGATTTG AGGAACTGGG
22550
CAGGGAAGCA GGGAAGCTCC ATATTTGTCT CCCCTTGGCC ACATGAACAT
22600
GTGGATATTG CAGAGTGGAG CAGATTCTGT GCATGAGCTC CTTGTGATCC
22650
TGGAACAGCA TCTTATTCTT TACTCTCCCA TGACAAATGG TCCCCGGGGG
22700
G
CAGAAGGAA CACTGCCACT GAATTTCTGT GTGAGCTCGG ACATGTTACA
22750 |
var(22701):[:0.93]
TCTTTGAGCT CTAGTAGTAA AAGGGCTTGG CCCAGGCTAA GGTCTTGAAA
22800
TCTGTCTGTG AAGGAAGCCA GATGGGGAGC ATTCTCCCTT CTGTGATGAT
22850
CAGGTAATTA GGGCCCAGAG TTGCTCAAGG TTATAGGCTG TTTGGTGGCA
22900
GATCTAGGCC CCTGACTTTC TCTTTAGTAG CATTTTCCTT CCCTAGACCC
22950
AGTCCCTGAG GAGGGGCAAT TTGTGCTTTT CCTCTTGACC CTTTTCCCCA
23000
GTGCCAACCA
T
GCCAAATTC TAGGGCACAT GCTCAGTTGC TCAAGTTAGT
23050 |
var(23011):[G:0.11]
CTCCTGGAGT CCCTATTATC CCCAGAAAAA GGTGGACCTG GAAGGGTCCC
23100
GCCCCAGGTT GACCTTAATG GCATCATGGA TCTGA
T
GCTA GCATTTCCCC
23150 |
var(23136):[C:0.11]
TTATCTCCTT GTAG
G
A
G
A
G
A
A
G
G
A
G
A
T
G
G
C
A
G
C
A
G
A
G
T
T
G
G
A
G
G
A
A
T
T
G
T
23200 | Exon 11
G E K E M A A E L E E L 493
A
T
G
G
A
G
A
C
A
T
T
G
A
T
G
C
G
T
T
G
G
A
G
T
T
C
T
A
C
C
C
T
G
G
A
C
T
G
C
T
T
C
T
T
G
A
A
A
A
G
23250 |
var(23217):[A:0.01]
|
var(23232):[C:0.12]
Y G D I D A L E F Y P G L L L E K 510
T
G
C
C
A
T
C
C
A
A
A
C
T
C
T
A
T
C
T
T
T
G
G
G
G
A
G
A
G
T
A
T
G
A
T
A
G
A
G
A
T
T
G
G
G
G
C
T
C
C
23300
C H P N S I F G E S M I E I G A P 527
C
T
T
T
T
C
C
C
T
C
A
A
G
G
G
T
C
T
C
C
T
A
G
G
G
A
A
T
C
C
C
A
T
C
T
G
T
T
C
T
C
C
G
G
A
G
T
A
C
T
23350
F S L K G L L G N P I C S P E Y 543
G
G
A
A
G
C
C
G
A
G
C
A
C
A
T
T
T
G
G
C
G
G
C
G
A
G
G
T
G
G
G
C
T
T
T
A
A
C
A
T
T
G
T
C
A
A
G
A
C
G
23400
W K P S T F G G E V G F N I V K T 560
G
C
C
A
C
A
C
T
G
A
A
G
A
A
G
C
T
G
G
T
C
T
G
C
C
T
C
A
A
C
A
C
C
A
A
G
A
C
C
T
G
T
C
C
C
T
A
C
G
T
23450
A T L K K L V C L N T K T C P Y V 577
T
T
C
C
T
T
C
C
G
T
G
T
G
C
C
G
G
A
T
G
C
C
A
G
T
C
A
G
G
A
T
G
A
T
G
G
G
C
C
T
G
C
T
G
T
G
G
A
G
C
23500
S F R V P D A S Q D D G P A V E 593
G
A
C
C
A
T
C
C
A
C
A
G
A
G
C
T
C
T
G
A
G
G
G
G
C
A
G
G
A
A
A
G
C
A
G
C
A
T
T
C
T
G
G
A
G
G
G
G
A
G
23550 |
UTR
R P S T E L 599
A
G
C
T
T
T
G
T
G
C
T
T
G
T
C
A
T
T
C
C
A
G
A
G
T
G
C
T
G
A
G
G
C
C
A
G
G
G
C
T
G
A
T
G
G
T
C
T
T
A
23600
A
A
T
G
C
T
C
A
T
T
T
T
C
T
G
G
T
T
T
G
G
C
A
T
G
G
T
G
A
G
T
G
T
T
G
G
G
G
T
T
G
A
C
A
T
T
T
A
G
A
23650 |
var(23607):[A:0.11]
A
C
T
T
T
A
A
G
T
C
T
C
A
C
C
C
A
T
T
A
T
C
T
G
G
A
A
T
A
T
T
G
T
G
A
T
T
C
T
G
T
T
T
A
T
T
C
T
T
C
23700
C
A
G
A
A
T
G
C
T
G
A
A
C
T
C
C
T
T
G
T
T
A
G
C
C
C
T
T
C
A
G
A
T
T
G
T
T
A
G
G
A
G
T
G
G
T
T
C
T
C
23750
A
T
T
T
G
G
T
C
T
G
C
C
A
G
A
A
T
A
C
T
G
G
G
T
T
C
T
T
A
G
T
T
G
A
C
A
A
C
C
T
A
G
A
A
T
G
T
C
A
G
23800
A
T
T
T
C
T
G
G
T
T
G
A
T
T
T
G
T
A
A
C
A
C
A
G
T
C
A
T
T
C
T
A
G
G
A
T
G
T
G
G
A
G
C
T
A
C
T
G
A
T
23850
G
A
A
A
T
C
T
G
C
T
A
G
A
A
A
G
T
T
A
G
G
G
G
G
T
T
C
T
T
A
T
T
T
T
G
C
A
T
T
C
C
A
G
A
A
T
C
T
T
G
23900 |
var(23884):[G:0.10]
A
C
T
T
T
C
T
G
A
T
T
G
G
T
G
A
T
T
C
A
A
A
G
T
G
T
T
G
T
G
T
T
C
C
T
G
G
C
T
G
A
T
G
A
T
C
C
A
G
A
23950
A
C
A
G
T
G
G
C
T
C
G
T
A
T
C
C
C
A
A
A
T
C
T
G
T
C
A
G
C
A
T
C
T
G
G
C
T
G
T
C
T
A
G
A
A
T
G
T
G
G
24000 |
var(23961):[A:0.01]
A
T
T
T
G
A
T
T
C
A
T
T
T
T
C
C
T
G
T
T
C
A
G
T
G
A
G
A
T
A
T
C
A
T
A
G
A
G
A
C
G
G
A
G
A
T
C
C
T
A
24050 |
var(24010):[C:0.20]
A
G
G
T
C
C
A
A
C
A
A
G
A
A
T
G
C
A
T
T
C
C
C
T
G
A
A
T
C
T
G
T
G
C
C
T
G
C
A
C
T
G
A
G
A
G
G
G
C
A
24100
A
G
G
A
A
G
T
G
G
G
G
T
G
T
T
C
T
T
C
T
T
G
G
G
A
C
C
C
C
C
A
C
T
A
A
G
A
C
C
C
T
G
G
T
C
T
G
A
G
G
24150 |
var(24105):[G:0.23]
A
T
G
T
A
G
A
G
A
G
A
A
C
A
G
G
T
G
G
G
C
T
G
T
A
T
T
C
A
C
G
C
C
A
T
T
G
G
T
T
G
G
A
A
G
C
T
A
C
C
24200
A
G
A
G
C
T
C
T
A
T
C
C
C
C
A
T
C
C
A
G
G
T
C
T
T
G
A
C
T
C
A
T
G
G
C
A
G
C
T
G
T
T
T
C
T
C
A
T
G
A
24250
A
G
C
T
A
A
T
A
A
A
A
T
T
C
G
C
T
T
T
C
T
A
A
A
G
T
T
A
C
C
T
G
T
T
A
T
A
T
A
T
C
T
C
T
T
T
T
G
G
T
24300
C
C
C
A
T
C
C
T
C
T
A
A
A
G
C
A
G
A
G
G
C
A
A
C
A
C
T
G
G
A
A
C
A
T
G
G
C
T
A
G
C
C
T
T
T
C
T
T
G
T
24350
A
G
C
C
A
T
G
G
C
T
G
G
G
C
G
T
G
C
T
A
G
A
G
G
T
T
G
C
A
G
C
A
T
G
A
G
A
C
T
T
T
C
T
G
C
T
G
G
G
A
24400 |
var(24382):[G:0.21]
T
C
C
T
T
G
G
G
C
C
C
A
T
C
A
C
T
G
T
A
T
A
G
A
C
A
T
G
C
T
A
C
C
A
C
T
G
G
T
A
C
T
T
C
C
T
T
T
C
T
24450
C
C
C
T
G
C
G
G
G
C
C
A
G
G
C
A
C
T
G
C
C
C
T
T
T
T
C
A
G
G
A
A
G
C
T
C
T
C
T
T
A
A
A
A
T
A
C
C
C
A
24500 |
var(24483):[T:0.22]
|
var(24486):[G:0.22]
T
T
G
C
C
C
C
A
G
A
C
C
T
G
G
A
A
G
A
T
A
T
A
A
C
A
T
T
C
A
G
T
T
C
C
C
A
C
C
A
T
C
T
G
A
T
T
A
A
A
24550
A
C
A
A
C
T
T
C
C
T
C
C
C
T
T
A
C
A
G
A
G
C
A
T
A
C
A
A
C
A
G
A
G
G
G
G
G
C
A
C
C
C
G
G
G
G
A
G
G
A
24600 |
var(24554):[G:0.05]
G
A
G
C
A
C
A
T
A
C
T
G
T
G
T
T
C
C
A
A
T
T
T
C
A
C
G
C
T
T
T
T
A
A
T
T
C
T
C
A
T
T
T
G
T
T
C
T
C
A
24650 |
var(24627):[C:0.02]
C
A
C
C
A
A
C
A
G
T
G
T
G
A
A
G
T
G
C
G
T
G
G
T
A
T
A
A
T
C
T
C
C
A
T
T
T
C
A
A
A
A
C
C
A
A
G
G
A
A
24700
G
C
A
G
C
C
T
C
A
G
A
G
T
G
G
T
C
G
A
G
T
G
A
C
A
C
A
C
C
T
C
A
C
G
C
A
G
G
C
T
G
A
G
T
C
C
A
G
A
G
24750
C
T
T
G
T
G
C
T
C
C
T
C
T
T
G
A
T
T
C
C
T
G
G
T
T
T
G
A
C
T
C
A
G
T
T
C
C
A
G
G
C
C
T
G
A
T
C
T
T
G
24800
C
C
T
G
T
C
T
G
G
C
T
C
A
G
G
G
T
C
A
A
A
G
A
C
A
G
A
A
T
G
G
T
G
G
A
G
T
G
T
A
G
C
C
T
C
C
A
C
C
T
24850
G
A
T
A
T
T
C
A
G
G
C
T
A
C
T
C
A
T
T
C
A
G
T
C
C
C
A
A
A
T
A
T
G
T
A
T
T
T
T
C
C
T
A
A
G
T
G
T
T
T
24900 |
REPEAT
A
C
T
A
T
G
T
G
C
C
A
G
T
T
C
C
T
G
T
A
A
C
A
G
G
T
G
T
G
G
G
G
A
C
A
C
A
G
C
A
G
T
G
A
G
T
A
A
T
C
24950
A
A
T
A
C
A
G
A
C
A
A
G
G
T
T
C
T
G
C
C
C
T
T
A
T
G
G
A
G
C
T
C
A
C
A
C
T
C
C
A
G
T
G
G
C
A
G
A
C
A
25000 |
var(24986):[T:0.01]
A
A
C
A
G
A
C
C
A
T
A
A
A
T
A
A
G
G
A
A
A
C
G
A
T
G
A
A
A
T
A
A
G
A
T
A
T
A
T
A
C
A
A
G
G
T
G
A
G
T
25050
G
T
G
A
C
T
T
C
C
C
T
T
C
T
A
A
C
C
C
C
C
T
C
T
G
C
T
C
T
G
T
C
C
T
C
C
C
C
T
A
T
T
G
C
G
C
T
C
T
C
25100 |
var(25070):[T:0.01]
A
A
G
A
C
C
A
G
A
G
A
C
C
C
A
A
C
A
G
C
A
G
T
G
A
T
C
T
C
A
G
G
G
C
A
G
A
C
A
G
C
C
C
T
C
C
A
C
T
C
25150
C
A
G
C
T
C
T
G
A
G
A
C
C
C
T
T
T
T
C
T
C
A
G
G
A
C
C
T
C
T
G
T
A
G
G
C
A
G
C
A
G
A
G
A
G
A
G
A
G
G
25200
A
C
A
G
A
G
G
G
G
T
A
A
G
A
T
G
A
G
G
G
G
T
T
G
A
G
G
G
A
A
G
G
T
T
C
T
T
C
A
T
G
A
T
C
C
A
C
A
C
T
25250
T
T
G
G
G
C
T
T
A
G
T
A
T
T
T
C
T
C
A
G
G
A
A
G
A
G
C
T
A
T
G
G
C
C
C
A
G
A
A
A
C
A
A
C
A
G
G
G
G
A
25300
A
A
C
T
A
G
A
G
T
T
C
G
G
T
C
T
G
A
C
A
G
T
C
C
T
T
G
G
G
G
T
T
A
A
G
T
C
T
C
C
T
G
T
C
T
T
A
T
G
G
25350
T
C
C
A
G
A
A
A
C
T
C
C
T
G
T
T
T
C
T
C
C
T
T
A
G
T
T
G
G
C
T
G
G
A
A
A
C
T
G
C
T
C
C
C
A
T
C
A
T
T
25400
C
C
T
T
C
T
G
G
C
C
T
C
T
G
C
T
G
A
A
T
G
C
A
G
G
G
A
A
T
G
C
A
A
T
C
C
T
T
C
C
C
T
G
C
T
C
T
T
G
C
25450
A
G
T
T
G
C
T
C
T
G
A
C
G
T
A
G
A
A
A
G
A
T
C
C
T
T
C
G
G
G
T
G
C
T
G
G
A
A
G
T
C
T
C
C
A
T
G
A
A
G
25500
A
G
C
T
T
G
T
G
T
C
C
T
G
T
C
C
T
T
T
C
T
T
G
C
A
G
A
T
T
C
T
A
T
T
T
C
C
C
C
T
C
T
T
C
T
G
C
T
A
A
25550
T
A
C
C
T
C
T
T
A
C
T
T
T
G
C
T
T
G
A
G
A
A
T
C
C
T
C
T
C
C
T
T
T
C
T
T
A
T
T
A
A
T
T
T
C
A
G
T
C
T
25600
T
G
G
T
G
G
T
T
C
T
A
T
C
A
G
G
G
G
T
G
C
A
T
T
C
T
G
G
C
C
A
A
G
G
G
G
T
G
G
G
C
C
T
G
T
G
A
A
T
C
25650
A
A
T
C
C
T
G
G
G
C
A
A
T
C
A
G
A
C
A
C
C
C
T
C
T
C
C
T
T
A
A
A
A
A
C
T
G
G
C
C
C
G
T
G
G
A
G
A
C
T
25700
G
A
G
A
T
C
A
C
T
G
A
C
T
C
T
G
A
C
T
C
A
T
C
C
C
C
A
C
A
G
C
T
G
G
C
T
C
T
G
A
C
A
A
G
A
T
G
G
T
C
25750
C
A
T
T
T
G
T
T
C
C
T
G
C
T
T
C
C
G
A
G
A
T
C
C
C
C
A
G
G
G
C
A
G
C
C
T
G
G
A
T
C
C
C
T
G
C
C
C
T
T
25800 |
REPEAT
C
T
C
A
A
G
A
C
T
T
T
A
G
C
T
T
T
T
C
C
T
T
C
C
A
T
C
C
G
G
T
G
G
C
C
T
A
T
T
C
C
A
G
G
A
A
T
T
C
C
25850
T
C
T
T
T
T
G
C
T
T
A
A
A
T
C
A
G
T
T
G
G
A
G
T
T
T
G
T
G
T
C
T
G
T
T
G
C
T
T
G
T
A
A
T
C
A
A
G
C
C
25900 |
var(25895):[A:0.08]
T
T
T
A
T
G
G
C
T
G
C
T
G
G
G
C
T
G
A
G
T
G
A
C
A
C
A
A
G
C
A
C
T
T
T
A
A
T
G
G
C
C
T
G
G
A
G
G
G
A
25950 |
REPEAT
C
T
T
T
T
A
A
T
C
A
G
T
G
A
A
G
A
T
G
C
A
A
T
C
A
G
A
C
A
A
G
T
G
T
T
T
T
G
G
A
A
A
G
A
G
C
A
C
C
C
26000
T
C
G
A
G
A
A
G
G
G
T
G
G
A
T
G
A
C
A
G
G
G
C
A
G
A
G
C
A
G
G
A
A
G
G
A
C
A
G
G
A
A
G
C
T
G
G
C
A
G
26050 |
var(26002):[T:0.02]
|
var(26013):[A:0.02]
A
A
C
G
G
A
G
G
A
G
G
C
T
G
C
A
G
C
C
G
T
G
G
T
C
C
A
A
C
C
A
G
G
A
G
C
T
G
A
T
G
G
C
A
G
C
T
G
G
G
26100 |
var(26054):[T:0.03]
G
C
T
A
G
G
G
G
A
A
G
G
G
C
T
T
T
G
A
G
G
G
T
G
G
A
A
G
G
A
T
G
G
G
A
T
G
G
G
T
T
C
C
A
G
A
G
G
T
A
26150
T
T
C
C
T
C
T
C
T
T
A
A
A
T
G
C
A
A
G
T
G
C
C
T
A
G
A
T
T
A
G
G
T
A
G
A
C
T
T
T
G
C
T
T
A
G
T
A
T
T
26200
G
A
C
A
A
C
T
G
C
A
C
A
T
G
A
A
A
G
T
T
T
T
G
C
A
A
A
G
G
G
A
A
A
C
A
G
G
C
T
A
A
A
T
G
C
A
C
C
A
A
26250 |
var(26207):[G:0.02]
|
var(26245):[T:0.03]
G
A
A
A
G
C
T
T
C
T
T
C
A
G
A
G
T
G
A
A
G
A
A
T
C
T
T
A
A
T
G
C
T
T
G
T
A
A
T
T
T
A
A
A
C
A
T
T
T
G
26300
T
T
C
C
T
G
G
A
G
T
T
T
T
G
A
T
T
T
G
G
T
G
G
A
T
G
T
G
A
T
G
G
T
T
G
G
T
T
T
T
A
T
T
T
G
T
C
A
G
T
26350 |
REPEAT
T
T
G
G
T
T
G
G
G
C
T
A
T
A
G
C
A
C
A
C
A
G
T
T
A
T
T
T
A
A
T
C
A
A
A
C
A
G
T
A
A
T
C
T
A
G
G
T
G
T
26400 |
var(26369):[C:0.02]
G
G
C
T
G
T
G
A
A
G
G
T
A
T
T
T
T
G
T
A
G
A
T
G
T
G
A
T
T
A
A
C
A
T
C
T
A
C
A
A
T
C
A
G
T
T
G
A
C
T
26450 |
var(26415):[G:0.02]
T
T
A
A
G
T
G
A
A
A
G
A
G
A
T
T
A
C
T
T
A
A
A
T
A
A
T
T
T
G
G
G
T
G
A
G
C
T
G
C
A
C
C
T
G
A
T
T
A
G
26500
T
T
G
A
A
A
G
G
C
C
T
C
A
A
G
A
A
C
A
A
A
C
A
C
T
G
C
A
G
T
T
T
C
C
T
G
G
A
A
A
A
G
A
A
G
A
A
A
C
T
26550
T
T
G
C
C
T
C
A
A
G
A
C
T
A
T
A
G
C
C
A
T
C
G
A
C
T
C
C
T
G
C
C
T
G
A
G
T
T
T
C
C
A
G
C
C
T
G
C
T
A
26600
G
T
C
T
G
C
C
C
T
A
T
G
G
A
T
T
T
G
A
A
G
T
T
T
G
C
C
A
A
C
C
C
C
A
A
C
A
A
T
T
G
T
G
T
G
A
A
T
T
A
26650
A
T
T
T
C
T
A
A
A
A
A
T
A
A
A
G
C
T
A
T
A
T
A
C
A
G
C
C
A
T
C
C
T
T
T
G
G
T
A
T
T
T
G
T
G
G
G
G
G
A
26700 |
REPEAT
T
T
T
G
T
T
T
C
A
G
G
A
T
C
T
C
T
A
C
A
G
A
T
A
C
C
A
A
A
A
T
C
T
G
T
G
G
T
T
C
C
T
C
A
A
G
T
C
C
T
26750
T
T
A
T
A
T
G
A
A
G
T
G
G
T
A
T
A
G
T
A
T
T
T
G
C
A
T
A
T
A
A
C
C
T
A
T
G
T
G
C
A
A
T
C
T
C
C
T
G
T
26800
A
T
A
A
C
T
T
C
A
A
T
C
A
T
C
T
C
T
A
G
A
T
T
A
C
T
T
A
T
A
A
T
A
C
C
T
A
A
T
A
C
A
G
T
G
T
A
A
A
T
26850
G
C
T
A
G
T
T
G
T
T
A
T
A
C
T
G
T
A
T
T
T
T
T
T
C
T
T
T
G
T
A
T
T
A
T
T
T
T
T
A
T
T
G
T
A
T
T
T
G
A
26900 |
NOT SCANNED
A
T
A
T
T
T
T
G
A
T
C
T
G
C
A
T
T
T
G
G
T
T
G
A
A
T
T
C
A
C
A
G
A
T
A
T
G
G
A
A
C
C
C
A
T
G
G
A
T
A
26950
T
G
G
A
G
G
A
T
A
T
G
T
G
C
A
C
A
T
A
T
A
T
T
C
A
G
G
A
C
T
G
A
A
T
A
T
A
T
A
T
A
T
T
A
T
A
C
A
T
A
27000
T
A
T
A
T
A
C
A
C
A
C
A
G
A
A
C
T
G
A
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
C
A
C
A
C
A
C
A
C
G
A
C
27050 |
REPEAT
T
G
A
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
C
A
C
A
C
A
G
G
A
C
T
G
A
A
T
A
T
A
T
A
27100
T
A
T
A
T
A
T
A
T
A
C
A
C
A
G
G
A
C
T
G
A
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
C
A
A
G
A
C
T
G
A
A
T
A
27150
T
A
T
A
T
A
T
A
C
A
T
A
T
A
C
A
A
G
A
C
T
A
T
A
T
A
T
A
T
A
T
A
T
T
C
A
A
G
A
C
T
G
A
C
T
A
T
A
T
A
27200
T
A
T
A
T
T
C
A
A
G
G
C
T
G
A
C
T
A
T
A
T
A
T
A
T
T
C
A
A
G
A
C
T
G
A
C
T
A
T
A
T
A
T
A
T
A
T
T
C
A
27250
A
G
A
C
T
G
A
C
T
A
T
A
T
A
T
A
T
A
T
A
T
T
C
A
A
G
A
C
T
G
A
C
T
C
T
C
T
C
T
C
T
A
T
A
T
A
T
T
C
A
27300
A
G
A
C
T
G
A
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
T
T
C
T
A
T
C
T
C
T
C
T
A
A
T
A
A
T
A
C
A
A
G
27350 |
REPEAT
A
A
C
A
G
A
A
A
A
C
C
A
A
A
T
A
C
T
G
C
A
T
G
T
T
C
T
C
A
C
T
T
A
T
G
C
G
T
G
G
G
A
G
A
T
G
A
A
T
G
27400
A
T
G
A
G
A
A
T
A
C
G
T
G
G
A
C
A
T
A
T
G
G
T
G
G
G
G
A
A
C
A
A
C
A
C
A
T
G
C
T
G
A
G
G
C
C
T
G
T
C
27450
G
G
A
G
G
G
T
G
G
G
A
G
G
T
G
G
G
C
C
A
T
C
A
G
G
A
A
G
A
A
T
A
G
C
T
A
A
T
G
T
T
A
A
T
A
C
C
T
A
G
27500
C
T
G
A
T
G
G
G
A
T
G
A
T
C
T
G
T
G
C
A
G
C
A
A
A
C
T
A
C
C
A
T
G
G
C
A
C
A
C
G
T
T
T
A
C
C
T
G
T
G
27550
T
A
A
C
A
A
A
C
C
T
G
C
A
C
A
T
C
C
T
A
C
A
C
G
T
G
T
A
A
C
C
A
A
T
A
T
A
T
G
T
A
T
A
T
T
A
T
T
A
T
27600
T
C
A
A
G
T
T
C
C
A
A
T
A
A
T
C
A
A
A
T
A
A
T
A
C
A
C
A
A
A
C
C
A
C
T
G
T
A
T
T
A
T
T
T
G
A
T
T
A
T
27650
T
G
G
A
A
A
T
C
A
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
T
A
C
A
T
A
T
27700 |
REPEAT
A
T
T
C
T
G
T
T
G
G
T
T
C
T
A
A
T
T
C
T
C
T
G
G
A
G
A
A
C
C
C
C
G
A
C
T
A
A
T
A
C
A
A
T
G
G
G
T
G
A
27750
T
T
C
A
T
T
C
A
G
G
A
C
T
C
T
C
A
A
T
G
C
A
A
A
C
A
A
C
A
G
A
A
C
A
T
T
C
T
C
T
A
G
C
C
T
G
T
A
T
A
27800 |
REPEAT
A
G
C
A
G
G
A
A
G
G
A
A
T
T
T
A
T
T
A
T
A
G
G
A
C
A
T
T
A
C
A
T
A
G
C
T
C
A
T
G
G
A
G
C
C
A
C
T
G
G
27850
G
A
G
G
A
C
C
A
G
G
G
A
A
T
T
A
G
G
C
T
T
G
G
A
G
G
G
T
T
T
G
C
A
C
C
T
A
G
G
A
A
T
G
G
T
G
G
C
C
A
27900
C
T
G
T
C
C
A
G
T
G
G
A
G
A
T
G
C
C
T
C
T
A
C
T
A
C
T
G
C
C
A
T
G
G
A
C
A
C
A
G
C
A
T
C
T
C
A
A
A
T
27950
G
A
C
A
C
C
T
T
T
G
C
T
G
C
C
C
A
A
A
C
C
C
C
A
C
T
A
C
T
G
C
T
G
C
C
T
T
C
C
A
A
A
A
C
A
G
G
C
T
G
28000
C
T
T
C
T
A
C
A
G
C
C
A
C
T
T
T
T
G
C
T
G
G
A
A
A
A
T
G
G
A
A
T
C
T
G
T
G
T
G
A
T
A
C
T
T
G
C
T
T
C
28050
C
T
C
T
C
T
T
T
T
C
T
C
T
A
C
T
T
A
G
A
A
T
T
A
A
A
A
T
T
A
T
C
T
T
T
A
T
T
T
T
G
T
G
T
C
G
G
A
T
T
28100
G
G
T
G
G
A
G
C
C
C
A
G
C
T
C
A
T
G
T
G
T
C
T
G
T
A
C
T
G
C
A
G
C
T
A
C
A
A
G
A
A
A
G
A
A
T
G
G
A
A
28150
A
G
T
G
A
G
T
T
T
T
C
T
G
G
T
T
T
G
T
G
C
C
T
T
G
A
A
A
A
G
G
A
G
G
A
A
C
C
C
A
T
G
A
T
A
A
G
G
A
A
28200 |
var(28192):[A:0.01]
A
A
T
T
C
C
T
C
A
T
A
C
A
T
A
G
G
G
A
A
G
G
T
G
T
T
C
A
A
A
GGGGCTGGGA AACGTGGAAA
28250 |
var(28218):[A:0.20]
GTCTGCTTCA GTGAATCTGA ATTTTCTTAG TTCTGTTCTG CCTCTGTGGG
28300
CCCTATCCCT AGAATGTTAC AAAGACCATC ACAATGGCCT TACTGTTGAC
28350
CTGGTAGCAG CTCGATATAG TTGCAAGCAA AGAGCTTAAG AAGTGAAGTT
28400
ATGTA
A
TTAT
A
GAACAACAG AGAAACAAAG ACTGTTGGGT ACACACAGTC
28450 |
var(28406):[T:0.01]
|
var(28411):[G:0.01]
CACTCTTTTA GTAATTTTTG AGTTAAAAAA AGTGTCAGAA ACGCA
G
G
A
G
G
28500 |
REPEAT
C
A
G
A
G
C
A
A
G
A
A
G
G
C
A
G
A
A
T
A
G
A
A
G
C
T
T
C
T
A
C
C
A
A
T
T
G
T
C
T
T
C
C
C
C
A
C
A
G
G
28550
A
A
C
A
C
C
A
A
A
T
T
T
A
A
C
A
A
C
T
G
T
C
T
A
C
A
C
A
A
A
A
A
A
T
G
C
A
C
C
T
T
C
A
T
T
A
G
A
A
C
28600
C
A
A
A
A
T
T
C
A
A
G
T
G
A
A
T
G
A
T
T
G
T
A
G
T
A
C
C
T
G
G
T
T
T
T
A
A
C
T
T
T
A
T
A
T
T
A
C
T
G
28650
A
A
A
G
A
G
G
C
A
C
T
G
A
G
G
A
G
G
G
T