SLC14A1 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
T
G
C
C
T
A
A
G
G
T
C
A
T
A
C
A
G
C
T
T
G
T
C
A
G
A
G
A
A
A
A
G
C
T
A
G
T
A
T
T
C
A
A
A
C
T
C
A
G
G
50 |
REPEAT
T
T
T
A
T
C
T
G
A
C
T
T
G
G
A
A
T
T
C
C
A
T
G
T
G
C
C
T
T
G
T
G
C
T
GCCTTG TGCATACAAT
100
ATGGCAAGGC TGTAATTTGT GGCCCCCCAC TTAAGGTGTG GCTTTACAGG
150
GACCAGGAGA AAG
G
CCAGGG AGGGAGGGTG GGTACAGAAA GAGGTGGTTT
200 |
var(164):[A:0.01]
TTCCAAGGAG GTCTGAGATT CACTACACAC CTTCAGCCCT
G
ACCAGTGC
G
250 |
var(241):[A:0.15]
|
var(250):[A:0.01]
ACTGAG
G
CAG AAG
G
CTCC
A
T GGGTGTCATG TGGAGGCAGC TTCAGGATGA
300 |
var(257):[A:0.16]
|
var(264):[A:0.01]
|
var(269):[G:0.01]
GGTCCATAAA TATGCATCAT GGCCAAGTTG AGTGAAGGAA TTAATGAAAA
350
GCAAACATAC AGGCAGAAGT TGGAAATATT GGACAGCACT GGAGTGGCTA
400
AAA
G
TACAAA CTTTGAGTCA
G
A
C
T
T
T
G
A
G
C
A
A
G
T
T
A
T
T
T
A
A
A
C
T
C
T
G
A
G
C
450 |
var(404):[T:0.27]
|
REPEAT
|
var(440):[C:0.36]
C
T
C
A
G
A
T
T
G
C
T
C
A
T
C
T
A
C
A
A
A
A
T
G
G
G
G
A
C
A
A
T
A
G
T
A
TAAT ATAGGAATTT
500
TGCAAATGCT CTACCATTTG TGGCAGTTAT TATTCTCATT ACCATCATTA
550
GCATGATTAT TTCTATCAGG GACAGTGGTC CATTTGCATA AGGAAGTCAT
600
GGAGACACTA GTATGATTCC TTTCATTCCC AAAGCAGGCC ACTCACA
C
TG
650 |
var(648):[G:0.26]
TCTCC
A
GAAG ATTCA
C
TTTT CTCCTTCAGG GAAACCCGAG GAGCTTATTT
700 |
var(656):[T:0.14]
|
var(666):[T:0.37]
TCTCCTTATT TTACCAGGGA AAAAATGTTG GAAGGAGAT
T
TGCCTGAACC
750 |
var(740):[C:0.01]
TGGAAACTCT TATTATGAAC CTAGACCTAT ACACACCCTA CCTCAGCTGC
800
TCGGGAGGCA CTTGGAGGAA GGATGTCCCA AGCCGGCAAG AACCCTGTGG
850
TCTGGCGGGT GTCCAGCGGG TGGAGCCAGA GAGCTCCCAG CCATGGGCCA
900
CCTAG
C
T
G
A
A
G
G
C
T
G
A
T
A
A
G
T
A
C
T
A
T
C
T
G
C
A
C
A
T
C
C
A
A
G
C
A
G
G
C
A
G
G
A
G
A
950 |
NOT SCANNED
C
C
C
A
G
A
T
A
A
A
A
G
A
C
C
T
A
T
G
A
C
A
T
C
T
G
C
A
T
G
G
C
T
G
G
C
T
G
T
G
G
G
A
T
T
A
C
A
T
A
1000
T
A
T
A
T
A
T
T
A
T
A
T
A
T
A
T
A
T
T
T
A
A
A
A
G
T
A
T
A
T
G
T
A
T
A
T
A
T
G
T
A
T
A
T
A
T
A
T
T
A
1050
C
A
T
A
T
A
T
A
C
A
C
A
C
A
T
A
T
A
T
A
T
C
T
A
C
A
C
A
T
A
T
G
T
A
A
T
A
T
A
T
G
T
A
T
A
T
A
T
G
T
1100
A
T
A
T
T
T
A
T
T
A
T
A
T
G
T
A
T
A
T
A
T
C
T
A
C
A
T
A
T
A
T
A
C
A
T
G
T
A
T
G
T
A
T
G
T
A
A
T
A
T
1150
A
G
A
T
G
T
A
T
A
T
A
T
G
T
T
A
C
A
T
A
T
A
T
A
C
A
C
A
C
A
T
A
T
A
C
A
T
A
T
A
T
A
C
A
C
A
T
A
T
A
1200
T
T
T
T
T
T
T
A
A
A
A
T
T
C
T
G
C
A
C
T
C
A
T
A
A
A
A
G
T
A
G
A
T
T
T
G
A
G
T
T
A
G
A
T
T
T
T
T
G
C
1250
C
A
T
A
A
C
A
G
A
A
C
A
A
G
C
C
A
C
A
A
A
A
T
T
G
A
A
A
T
T
T
A
A
A
A
A
G
A
A
G
G
G
G
G
A
A
G
G
A
G
1300
G
A
G
A
T
A
T
T
T
T
A
A
T
T
C
A
G
T
T
T
T
A
G
A
T
T
T
C
C
C
T
G
C
T
A
T
A
G
A
A
T
G
T
T
T
G
C
T
T
C
1350
C
T
G
A
C
T
T
T
T
A
A
A
G
A
G
G
C
A
G
C
A
G
A
G
T
A
T
G
T
C
C
A
A
G
A
A
T
T
C
T
C
A
C
C
T
G
G
G
A
A
1400
G
A
C
A
G
A
C
A
T
T
C
C
A
G
G
G
A
A
A
C
A
C
T
G
A
T
A
T
T
T
T
T
G
T
T
T
T
C
T
C
C
T
C
A
C
T
G
G
G
A
1450
A
A
A
A
G
G
C
A
G
C
T
G
G
C
C
T
T
C
A
G
A
A
A
A
C
A
A
C
T
T
G
C
A
T
G
T
A
C
C
T
T
A
T
C
T
T
C
C
C
C
1500
A
C
C
C
T
C
C
C
A
A
C
A
G
C
C
C
C
T
C
A
G
G
C
C
C
T
T
G
C
T
G
G
A
G
T
C
T
T
A
C
A
T
C
T
G
T
G
T
A
G
1550
A
A
G
T
T
G
T
G
C
C
A
A
G
T
C
T
A
A
G
A
A
A
A
T
T
T
C
A
C
C
C
C
A
G
G
A
G
C
A
G
T
C
G
C
T
T
A
G
C
T
1600
T
C
C
G
A
G
T
C
C
A
C
A
C
A
G
C
A
G
C
A
A
C
C
T
G
C
C
C
C
A
T
G
G
T
T
T
T
T
A
G
T
T
T
G
A
C
A
C
C
G
1650
T
G
T
T
G
A
T
C
C
T
T
T
T
C
A
G
T
TGT AAATCTTTCC AAAAATATGA GTAGGGGCCA
1700
GAGGAAACAG GAGAAGAAAA AGATGCATTT TGGTAGGATT ATTGCT
C
GTC
1750 |
var(1747):[G:0.27]
AAAGACCTTG GAATGCTGTG GAAACTGTGG CAAAGCAGTT GGTACTGTGT
1800
CAAGAACAGA GAGAGAGACA TCGGGTACTG AAGCCAGGGG ACCAGTTCCT
1850
TGGTGTTGCT TTGGCATTGA TGCCTGAAGT GGGAGGAGAA AGCCGAGCCC
1900
ACAAACACAC AGAGCAGAGT GGGGCTCTGA GTATATAACT GTTAGGTGCC
1950
TCCCTCCAGC ACCATCTCCT GAG
A
A
G
C
A
C
T
C
T
C
C
C
T
T
G
T
C
G
T
G
G
A
G
G
T
G
G
2000 | Exon 1 |
UTR
|
var(1997):[A:0.20]
G
C
A
A
A
T
C
T
T
T
A
T
C
A
G
C
C
A
C
T
G
C
C
T
T
C
T
G
C
T
G
C
C
A
G
G
A
A
G
C
C
A
G
C
T
A
G
A
G
T
2050
G
G
T
GTAAGTA CTCATCCTTA TTTCTATTCA TTTCCAACTA TTCATCATTT
2100
GGGGCTTGTC TTCACAGTTC TAAGTTTTGC TCTTTTTCTT AATGAAGAAA
2150
ATGTTTTATA TCACCGGAAT TGATCAGAAG TAGCAAAATC AGAGTT
C
T
G
G
2200 |
var(2197):[:0.03]
T
A
G
A
CTAGAA AGCAATTTAC CAAAGCCACA GGCTTCTTCC TGGAAGCTCA
2250
AAGGCATGCC TTTATTCGTG ATTTCTGAAG CAAGGTGCAT GCAGCACCTG
2300
AGCTGATGTG GAAGAGGGTT TGCAGGGAGG TGTCCACCCA ATGTGCTCAA
2350
TGATTCTGGG TTAATCAACA CTATTAGGAG TTTCAGGTTG TGTTCTTGAA
2400
ATAATAATTT GGGCTGT
G
TT CTTGAAATAA GTTCGAGGCG AGTGTCTACA
2450 |
var(2418):[A:0.05]
AGACTCAAAA GAAAAAAGTG GGCCACTGGG AATGGCCCTT TCCAGTGATG
2500
GATTTATGGA CTCCTCTGTG TGTGCTGTCA TGCTGAAGGG AATGTTCTTG
2550
TGCACCCATC GGGAGAACAA GTCAGTCACA ACTGAAGCCA CGAATTT
G
GC
2600 |
var(2598):[A:0.01]
AGCTTCCTTG CAGCTGCACT CTCTGGAGTC TGGAATCAAG ACTTCTGGGA
2650
GTAGTGTTTT CCAAGGAGGG AAGTGTTTTA ACCAGGACAC AGGAATATCT
2700
GACAGCATTT TCTTTGTTTC CAATTACAG
C
T
T
T
A
A
A
G
A
A
A
A
C
T
G
G
G
C
A
T
C
2750 | Exon 2 |
UTR
T
C
C
T
G
C
T
A
C
T
T
A
A
A
A
T
C
A
A
A
A
A
C
T
A
C
C
T
A
A
A
A
T
A
A
A
G
A
T
T
A
T
A
GTAAGTA
2800
CCAAATAAGT GTCAATGCTG AAAGTCTCTT TATTATGCTA GACCATGAGT
2850
GTTTAAATGC TTTCTTCTAT ATCCATATCC AACACTTCAT ATTATTTTTA
2900
AAAGTAATAG CTGAAGCATG GAAAATTGAA GACTTCAGGT CTCTCCAATT
2950
GCACAAATTT CTAATACATG CTGGCAATAG AATATATTTT ATTTCGTGTA
3000
ATAAAATAGA GGATATTAGT TGAC
C
TGAAA TCTTGATATT GCCTTGTATT
3050 |
var(3025):[G:0.01]
AAAATGCTAA GCACTGCTTC ATTTTACTAG TGATCTGGGG TATGAAAAGT
3100
GCTTTTTGAC TTCTGCTGGA AAGCTCTTCA GGTGCAGCTT CCAGGATATT
3150
CTTGGGATGT TAACTTCAGC ACACATAAGC CTTGCTGTAG ATGTGTCAGC
3200
TTTGAGGCAC AGGGAGACAT TTGTTTGTCA GAGAGTAACT GCTTCTGGCA
3250
AGGGCATAGG GTGAAACTGG GGATAGCAGA GCTCTTTCTT TGTGGTTGTT
3300
CAACCCCCAC CCCAAGATTA GTTCAAAGTG ACCGTGAAGA TAGTCTGTGC
3350
CCACCGCATC GCTAAGTCCT AGCCCTCTCT GCATACTCCA GCACACAGAA
3400
ACTGCTGCTT CACTTGTTTG TTGACTTGAA CCGAACCTTG GGTGGCATTA
3450
ATGTGCCTGG
C
CCAAGACTG AAAAATTAAG AACCACCAGA GCTGACCTAT
3500 |
var(3461):[A:0.10]
TCCATAAGAC CCAGTCTGCC TGCCACGTAC TGAGTGAATC TGGATGATGC
3550
C
C
A
C
T
C
T
G
A
T
C
C
T
T
G
G
T
T
T
T
C
T
C
T
T
C
T
A
T
A
A
A
A
T
G
A
A
G
G
C
T
T
G
A
A
C
T
A
C
G
3600 |
REPEAT
|
var(3600):[A:0.42]
T
G
G
T
C
T
C
T
A
A
A
A
T
C
C
T
A
C
C
T
A
G
C
T
C
T
C
A
A
A
T
T
T
C
T
C
T
T
G
G
T
T
C
T
A
G
G
A
AA
3650
ATATTGATGT TGAGCTCAAG GAAGGGGTTC TCCAAGGTGT GTGATTTTGG
3700
TGGTAGAGGA AAGGCCGGTG CCAGGCAGGG GCAGAAGGAG ACGCTGTCTA
3750
CACTGAGAAA ATGTGACAAC CCCTGCTTGT CTCTTTTTTC ATTCTTCATT
3800
GTTTCTTATT TCTTTGTTTT TAGCTTTATA TAACATGAGA GCCCTACCAC
3850
TGGGTTTCTT AACCATTTGT TCTTTATCAA ATAAAAATAT TCATAATGCA
3900
ACATGCAGGC ACATCAGTGT GGTACAGAAC TAGCCAGCTA GTTTACTATA
3950
GGTAAATATA CACACATGCA TGCACACACA CAATTTTTAC CTGAGACATG
4000
TCAGAAGTGT TTCCTAAAAT TGTGGATTTT TCTGAGTCAT TCTGGTAAAG
4050
GGTAGGTTTT CAGGTTTTAG GCCAAGCCAG AAGAAGAAAG TAAAAACAGA
4100
ATAAACAACA GGGGGAGAAA AAGAGAAATA CCACACACAC AACTGGAACT
4150
TCTGGTAAAA GAGTGATATT CTTGGATGCA ATGGAAGTTT TAAAAAGGAA
4200
AAAGAAAATT TATAAAAAGC TGCCACATTT GTGGAATTCA ACTAAAAACT
4250
GTTTATTATT AACAAAGTGA TGTTCAAAAT TTAAGAGTTC TT
G
G
C
C
T
G
G
C
4300 |
REPEAT
A
T
G
A
T
G
A
C
T
T
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
T
G
T
T
T
T
G
G
G
A
G
G
C
T
A
A
G
G
T
G
G
G
A
G
4350 |
var(4322):[A:0.01]
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
A
T
T
C
A
A
A
A
C
C
A
G
C
C
T
G
G
A
C
A
A
T
A
C
A
A
T
G
A
G
A
C
4400
T
T
T
G
T
C
T
C
T
A
A
A
A
A
A
A
A
A
T
A
A
A
A
TAAATTA AAATAAACAC AGCTGGATGT
4450
GGTGGCACAG GAAAAAAAAA TACCATTTAG GAGTCTCTTA AAGGC
A
GCTT
4500 |
var(4496):[G:0.41]
GTGAATGCTT ACAAAGCGTG GCTAGTATCT TATTACAGAA AACAGAGCCC
4550
ACATCATGCA TCCTTCTTCT CACATTTCAT AAACAAGGCC AAGGGAAACT
4600
GCTGTGG
G
GC AACCTGTTGC TTTGGTGTTG GTCCCCAAGA TGCAGCCCTC
4650 |
var(4608):[A:0.35]
ACAATCTGCC CCCAAACGTG TCAGAACATG AACCCCCTCC TCCCCCTCTG
4700
GAAGA
G
GCAA CCT
C
AGATCC AACAGCAGAG ACACGCAGCA GAACAAAATC
4750 |
var(4706):[A:0.06]
|
var(4714):[G:0.04]
TGGGCATTGG TCCCTGTGTA GGATGGCTTC CCGTTATTTT TTTTTTAAGC
4800
AAAGTAAATG AACATCAAAT TTCCATAGTC AGCTGCTGTC TTTCTGCCCA
4850
CTGAGAGCTC TTTGGTGAAG GCAAAGTCCT CCTTCT
T
CAT TAGCGGTCTC
4900 |
var(4887):[C:0.38]
CCATGTGGGG CCACATCTTC CCTCACCAGG AACCCAGTGG GCGCGCTCCA
4950
GCCCCCCTCA GCTTGCCTTT TGCGTGGTCA TTAGAGCTAG GGCACACGTC
5000
ATGCTGATTC ACATATTTTT GCCCTTTGTC ATGTATTGAG AAAAAGTAAG
5050
GATGAATGGA
C
GGTCTTTGA TTGGCGGCGC TGGTGACGCC CGTCATGGTC
5100 |
var(5061):[T:0.38]
CTGTTTGGAA GGACCCTTTT GGAACTAAAG CTGGTGACGC AGCGCGCAGA
5150
GG
C
ATCGCCC GGCTAAGCTT GGCCCTGGCA GATGGGTCGC AGGAACAGGT
5200 |
var(5153):[A:0.37]
ATGCTTCCTT CGTGCAGCCT CTGGCTCGGG GAACCTGGGA GCCTGCTCCA
5250
AACTCTGGTG TATCTTTTC
T
GGGCAGAGCC TGGGAAGTGG GGGTTGGCTG
5300 |
var(5270):[C:0.03]
TGAGCTAAGC CAAAGGCACA GGGATCTTGG TCCAAAAAGC CCCATGGCGC
5350
TCACCTTGGT TTAGAG
G
C
TA GA
C
CATTGAG CTGAGAAGTT TTGACAGCCA
5400 |
var(5367):[T:0.01]
|
var(5368):[A:0.01]
|
var(5373):[T:0.06]
TGGAAAAGCT GGGGATAAGT CACCTGGGGT TTTACGTTTA CCCTGTGTCT
5450
ATTTTATTAG AGTGCCTTTT ACTTATTGTC CCTTCTTCTT AGTTGAAATT
5500
AATGGCCTGC TTCACTGGGG CTAAGATGTT TGAACATTAG CAGAAGGTCC
5550
TGGCTGCATA GCCTTGCCTT GTCTTCCCAG TTAGGATGTA AGGACTCTTA
5600
AAGTTCCCTA AGAAATGCAA ATATTTTAGC ATGGCAAAAT TCTAGGCCAA
5650
CTACAACTGT AAGTTTCGTA TTTCTCCTAA GTGGTTCTCA TGCCTGACTT
5700
CTGGAGCAAG GAGTCAGGTC TCCCAGGGGC TCTAGAAGGG TTCAGCTGTT
5750
CAGAATAAAT GGTTCCTGGG GACTCTAAAA TAGCAGCAAC TGTCTGCCCA
5800
GGTCATGAGA AGACCCCTCT CTGCAGGACA TCCTAGCCCT ACAACCCATC
5850
CCAATTA
T
GT TGAAATTAGA TTCACAAATG GCAATAAGTC TTCTATA
T
GT
5900 |
var(5858):[C:0.07]
|
var(5898):[C:0.19]
TGGGCTGTCG ATTTGGAGAA AACTAGTTTA ATCTTTACTT AACTTTGGGT
5950
GGCTCAACAG GAGACTCGGG CCGCTCAGGC TCTCAATCAC GTCTGGCCAG
6000
TT
C
TATTATC AG
G
TTTCGAA TCTGTATCTC CAAAATCTCT GAGG
T
GATGG
6050 |
var(6003):[T:0.36]
|
var(6013):[T:0.36]
|
var(6045):[G:0.01]
GATATTTCAA GCCCTCTAAA ATAAATAAAT ATATGCTGGG AATTTTGAGA
6100
ACATGAATTT GTTTATTCTG AAATGGTCC
A
TGTTCCTGCT TTGGGAGTTG
6150 |
var(6130):[G:0.35]
ATGGAAAATG CCACTTGAGT GTTTTCATTT GATGCTGCCA
C
CTTAGGGTT
6200 |
var(6191):[T:0.02]
TTATAGATTC AGTTCCAGAA ACTCAAGGCA TTTATCTCTT TGGGCTGCTT
6250
GTCCTTGCCT GAGCTGAA
G
C CTGATGCCTC CCATAAGTTG GTATGGCTTT
6300 |
var(6269):[A:0.07]
GAAAATGGGT CACTAC
A
GCA GAGGCATGGG CTTATCAAGC AATATGTTCA
6350 |
var(6317):[G:0.01]
GCTATGAAAT TTGAAGAGGG AGATAATCTG AAAATAAATG ACAGCCACCA
6400
CTTAGATTAT GAAATAGAAG TACTTTTTCA TAAGTGCTTA ATTATTCATA
6450
CGGTTTTTT
A
T
C
T
T
T
AACTA TGGAGCCAAC TCAGCTCCAT ATGGACTTAA
6500 |
var(6460):[:0.01]
TTTTGGTTCC TGACCTCCAA GATTCA
T
TGC AAGTCACACA GA
T
GTTGGTA
6550 |
var(6527):[C:0.08]
|
var(6543):[C:0.08]
TCTAACATTG TTTTACCGAG ATAAAATGAC CTTGGTCTGG AATGCATTGT
6600
ATAAAAAGCT GCTTTTTTGT GTAA
A
GATTA ATAGTTTGGC ATTGTTTAAA
6650 |
var(6625):[T:0.31]
AAGCAGAATG GTTAGTTGGG CAGTGAGGTA ATACAATTGA AATGTAATTG
6700
CTA
C
CAATAA ATCAGTTACC CATATTGATT TCTTTACTGG GATTAATAGA
6750 |
var(6704):[G:0.30]
AGCCAAAGCT AGAGTTCAA
C
TTTTTTTAAT AGGTATAACT TAGTATCTGT
6800 |
var(6770):[T:0.30]
TCATTGCTAT TTGTTAGCTA TGGTAAATGG AACAATGAT
G
GGGCCAGAAA
6850 |
var(6840):[A:0.06]
TATCCATGAG GACCATTTGA TCACAGCCTG GCAACACAGA GAAGACAGGC
6900
TGGTTTCTCT ATGTGGGCTT TCAGTGTTTC TTTGGTAGTG TCTTATGTG
G
6950 |
var(6950):[T:0.30]
CT
G
TGGCTTC AACATTCCAC AATTATGCCT TCCAGGGTCT GATGATTTTG
7000 |
var(6953):[A:0.01]
GCGTTTCCCT GCTTCCCAAT TGACCTGGCT GTGCTGTTGG CTGTTCTTGC
7050
ACACTCAAGG TGGTTTTGCC ATTGGCTTCC TCCCTCAGCC TGCCTCTGGG
7100
ATTATGCCAC TGCTATTCTT TTTTATCTAC CATCAGCACA ATGAAATCAT
7150
CATTTTTGT
C
TTCAAGGTA
C
CAAATTCTGG TGATATTGGT GCTTTCTTGC
7200 |
var(7160):[G:0.07]
|
var(7170):[G:0.30]
AGCTACTTAT CATGAGAAGT GAATGGTCTC ATAGTGAACA CAGTCATGGT
7250
TATAGTGTTC ATACGTTCCA GAGACATGTT TCCTATAATT ATGCCCTGCA
7300
CATTTTTCTA TCATACAATC CTTAGATTAC AGCTCTTTGG TTTTCAACAG
7350
CTTTGTCCAA TTCCATCTTT CCCAGTTTCT CTACCTTGAT GAAATATCCT
7400
TCTTGCCTGG TTTTACATAT TTAAATAACA AATTCCAAAA GTAAAGAGTA
7450
TCTGAGGCAG TCACATGACA TAAGGACAAA TTCAAGCCAT CTTGGACTTG
7500
CAGAGGGTGG GGAGACC
G
TG TCAACACACA CAATTTTAAA AATTTCTTCC
7550 |
var(7518):[A:0.35]
CTTTCAATCT TTTAAAAACA AAACTTTTTA TAAAATAAAA ATGTAATTTA
7600
AAAAGGCTAC CTGTCTTGGC AAG
T
AGCTGA TCAGCCTGCA TTGGTGAGCA
7650 |
var(7624):[C:0.35]
GGCCATTCCA TAACCTGGTT TCTTGCTCCT TAATTGACAG CATGGAGCTA
7700
ACGTACTTAA TTTCAGCTCT TTCTA
C
GTGA TTTGACTCAT TCTGTTAACA
7750 |
var(7726):[T:0.14]
TTAACTGTTT TTCAGTCTTC TCAACTAGAC TGAACTCCTT AAGTGCAAGA
7800
AATACACGCT TAGTAAATGT TTGTTGGACC AGACACTGCA CCTTATGAAA
7850
TTAAAGACCA GAACATTCTC ATGGTAGCAT TACAGACACT GATGGCAAAG
7900
GTACTGTGGG ATTTGGGTTT GGCTAATAAG CTCTGTGGTG GTGTTTCAGA
7950
AGGAAAATGG TGCTCTCTTA GTTCTATGGA ACATAGTG
G
T CCAG
A
TCTTC
8000 |
var(7989):[A:0.12]
|
var(7995):[G:0.18]
T
A
CTGTAACC AGGCCCAAAG CTGGCTAATC TGGAGGGCTC TGCCTTAGGG
8050 |
var(8002):[G:0.36]
ATACTTATAA GCTCTGTCCT TCCCTCAAG
G
A
G
C
C
A
G
A
G
G
A
A
G
A
G
A
T
A
G
C
C
8100 | Exon 3 |
UTR
A
T
G
G
A
G
G
A
C
A
G
C
C
C
C
A
C
T
A
T
G
G
T
T
A
G
A
G
T
G
G
A
C
A
G
C
C
C
C
A
C
T
A
T
G
G
T
T
A
G
8150
M E D S P T M V R V D S P T M V R 17
G
G
G
T
G
A
A
A
A
C
C
A
G
G
T
T
T
C
G
C
C
A
T
G
T
C
A
A
G
G
G
A
G
A
A
G
G
T
G
C
T
T
C
C
C
C
A
A
A
G
8200
G E N Q V S P C Q G R R C F P K 33
C
T
C
T
T
G
G
C
T
A
T
G
T
C
A
C
C
G
G
T
G
A
C
A
T
G
A
A
A
G
A
A
C
T
T
G
C
C
A
A
C
C
A
G
C
T
T
A
A
A
8250 |
var(8230):[A:0.18]
A L G Y V T G D M K E L A N Q L K 50
G
GTATTTATC CTTTCACATT TTGGAGAGAC AGGAGAAGTA GCTTTGGGGG
8300
50
AAATGGTTTC CTGGTACTTC TACTTATACC TTTAGTTATA TTCTCCAACT
8350
TTTTATAGAT CTCTTTACTC ACCATTTTTC TACTTTTATC TTTTAACCTG
8400
CAAACCTCTC CATTTTTTTT TCTTATGGAG ACAGTAGCCA GGGCCCAGCT
8450
CATATTAGAA GGCACCTGGC TTCATCCTGT AGTTTCAGTA CTTAAAACTT
8500
AAATTTATTC CTTTGGCTTC AGAATTTGTA CCTATAAGCA TGAAAATAAG
8550
TGCATTAGAT GCTTTCAGGA GCTTAGATTC TAGGAGGGGC AGTGTGGGTT
8600
GAGCATACAG TAGATAGAGG CTTTCAGGGA TCTGGGTGCC ACTAATGCAA
8650
CAATGGGTT
G
AGAGA
G
AAAT ATTAAAGAAA TATCAAAAAT GTTTCACTTC
8700 |
var(8660):[C:0.40]
|
var(8666):[A:0.14]
CAGGAGGTTT TGCTGATTTT GCTCAGGGTG GGCCTGTGGT TGAAGAGTAT
8750
CACTTGGCAG CTTCCTTAGC TCTGCTTTAC CTCATCCCTT CCAG
A
C
A
A
A
C
8800 | Exon 4
D K 52
C
C
G
T
G
G
T
G
C
T
C
C
A
G
T
T
C
A
T
T
G
A
C
T
G
G
A
T
T
C
T
C
C
G
G
G
G
C
A
T
A
T
C
C
C
A
A
G
T
G
8850
P V V L Q F I D W I L R G I S Q V 69
G
T
G
T
T
C
G
T
C
A
A
C
A
A
C
C
C
C
G
T
C
A
G
T
G
G
A
A
T
C
C
T
G
A
T
T
C
T
G
G
T
A
G
G
A
C
T
T
C
T
8900
V F V N N P V S G I L I L V G L L 86
T
G
T
T
C
A
G
A
A
C
C
C
C
T
G
G
T
G
G
G
C
T
C
T
C
A
C
T
G
G
C
T
G
G
C
T
G
G
G
A
A
C
A
G
T
G
G
T
C
T
8950 |
var(8946):[A:0.04]
V Q N P W W A L T G W L G T V V 102
C
C
A
C
T
C
T
G
A
T
G
G
C
C
C
T
C
T
T
G
C
T
C
A
G
C
C
A
G
G
A
C
A
G
GTAGGT GTACCCTTTC
9000
S T L M A L L L S Q D R 114
AAGCCTTCTC AGCTCCCTTC TGAGACACAG GGGCTGACCA GTTACTGTGG
9050
GCAACAGTGA TAAAACCACA TCCTTCCCAG GATAAACAAC ATTTAGTCCA
9100
CAGAACTGTT TATATTTGTT TTTAGTCAGA GGTCAGGGAA TCAGTTACAG
9150
TCTCTTGCTC TTGATATCTG AATAAATGGC TGGTCTAAAT GATG
C
CAGA
T
9200 |
var(9195):[G:0.36]
|
var(9200):[C:0.01]
TCTTGTGGCA TTA
C
GTGCTA ACCAGAACTA AGCTACAAGT ATTTCCCTGG
9250 |
var(9214):[T:0.36]
AGAGGTTCTG AAGGGATCTT CTTTAATGAT TGATAAAATT ATTTGTC
A
TC
9300 |
var(9298):[G:0.18]
AGCATTCTAT TTGGGAAAAA GTGCATATGA ATTCAGAAAA AGTTTTAGTG
9350
GCTTAATAAC CCCC
G
TTATA TCTTGTTGCT
A
TGATGAGTT TAGGAAACTC
9400 |
var(9365):[A:0.01]
|
var(9381):[G:0.35]
ATTCTTCATA GACAGTGCAA AGGTCAGCTC AGCTCCTGGA GAAAAGAATA
9450
ACCATGAATT CCAATTGAGT GGATTCTGAC TTAAGAAGCC TTAGTGAGTC
9500
TTCTGATATA
T
TGATTAGAT TAAAAATAGC ACACACTTTA TAAATTGATC
9550 |
var(9511):[C:0.36]
TGTCATTGAA GAAGTGATGA GCTGACTCTC ACCAGGGCAG TAGATAGCTC
9600
CCCACTAGCC AGTTCCTTTA GGGAGGGAAC CAGTATTCCA GGTGTCTGAG
9650
ATCAACGCAT AATCCCAATC CCCAGTGTGG TCATTACACA ACTAAGCTCT
9700
TGTAACACTG GCTGCAAATT GCCTAAAGAG GTCC
G
TGGGG AGAGAGTTAG
9750 |
var(9735):[A:0.03]
CAAATG
C
TCC ACTTTTCTAT CAATTTCAAG GAGTCTGATT TGCTCCCTGT
9800 |
var(9757):[T:0.01]
AGAAGGGGAT TTTATAGCTT AGGTTAAACT CTATTCCAAT GCATGCCAAG
9850
AAAAGGTCTC CTCAGTTTGG GGATGGAGTC TATAATTGTG CCATACTGAA
9900
TATTCCTTTA TGATTTTGCT CTGATGAAAC ATGA
T
CAACT CATTTTTTGT
9950 |
var(9935):[C:0.07]
CAGATATTAT TTAGAAGACA AGTCATTTAT ATGTGTTAGT TTCAAATGTT
10000
TTACTTTCCT TGGTCTGAAA AGACTGCA
T
T AAAATGGAAA TTCTCTGTTT
10050 |
var(10029):[C:0.06]
TAAGTAAATA TATGTCTTCC TGTGGCTTTA ACTATGGCAT TCCACAATTT
10100
GTAGATGTTG CCATTAATTT TCCACTGATC AAACTCAAGC ATTAACATCT
10150
CCAAGTCAGT TGTTGAGAGG ACAAGTCTGC AT
G
GCTCTCT ACTGTCATGT
10200 |
var(10183):[A:0.37]
GTAGTCCCAG TCTCTGAGTT GTACCTTTGC AAATTGTATC ACCTCCCATT
10250
TGCCCTCAAG GATTATTTAA GGGA
A
ACAAA GAACTTTTGA ATAGGGAACC
10300 |
var(10275):[G:0.37]
CCACATTTAA TGTTCATCTG GATTAATGTA CGTGACATCA TCTTGCCTGT
10350
TGCAATGGTG CCTCCTGGCC CAGTTAGAAA CAAGCCAAGA AGCAGCTGTC
10400
ACACTATCCC TTACCAG
C
CC CTGCAGTGTG GCTCACTGGC TATAGCACCT
10450 |
var(10418):[:0.35]
CCTGCTCGAG CCCAGCATTA GGCCTCACCT ACTCACTTCA CCATCTTTAC
10500
TCCCCCATCC CCCTACAGAC ATCATCCTTG AGTGACAGGC CCTTGGGAAG
10550
TGGATCCTGT GCCTTTCACG GTGCCAGACG TTGCCAACTC TCAGAGCTGT
10600
GGGA
A
TCCTG CCTTGTCAGG TC
A
A
T
C
A
A
T
C
T
A
G
G
T
G
C
C
C
A
T
C
A
A
T
G
G
T
G
G
10650 |
var(10605):[G:0.33]
|
REPEAT
|
var(10637):[T:0.34]
A
T
T
A
T
A
T
A
A
A
G
A
A
T
A
T
G
T
G
G
T
G
C
A
T
A
T
A
C
A
A
C
A
C
G
A
A
C
T
A
C
T
A
C
A
T
A
G
C
C
10700 |
var(10681):[G:0.06]
A
T
A
A
A
A
A
G
G
A
T
T
G
A
A
A
T
C
A
A
G
T
C
C
T
T
T
G
C
A
G
C
A
G
C
A
T
G
G
A
T
G
T
A
T
C
T
G
G
A
10750
G
A
C
C
A
A
T
A
T
C
C
T
A
A
G
T
G
A
A
T
T
A
A
T
G
T
A
G
T
A
A
C
A
G
A
A
A
A
T
C
A
A
A
T
A
C
C
A
C
A
10800
C
G
T
T
T
T
C
A
C
T
T
A
C
A
A
T
T
A
G
G
A
G
C
T
A
A
A
C
A
C
T
G
G
G
T
A
A
A
C
A
C
G
G
A
C
A
T
G
G
A
10850
A
A
T
A
G
T
A
G
A
C
A
A
C
T
G
G
G
A
C
T
C
C
A
A
A
A
G
A
G
G
A
G
A
G
G
A
A
G
G
G
A
A
A
C
A
A
G
T
G
T
10900 |
var(10861):[G:0.01]
T
G
A
A
A
A
C
C
T
A
C
C
T
A
T
C
A
G
G
T
A
C
T
T
T
G
T
T
C
A
C
T
A
T
T
T
G
G
G
T
G
A
C
G
A
G
T
T
C
A
10950 |
var(10943):[G:0.34]
A
T
A
G
A
A
G
C
C
C
A
A
A
C
C
T
C
A
G
T
C
A
G
C
A
T
C
A
T
G
C
A
A
T
A
C
A
T
C
T
A
T
G
T
A
A
C
A
A
A
11000
C
C
T
G
C
A
C
A
T
G
T
A
C
C
C
C
C
T
C
A
A
T
C
T
A
A
A
GAA GGAGAAGAAG ACGGGGAAGA
11050
AATGAGATTG AATACTAAGC AAAAAGTAAC CTCAGAAAGA ACTGGGTGCT
11100
CAACATGCAC ATAATTAAAT GGG
G
TACTTC TCCAAGTAAG AGAAAAGCAA
11150 |
var(11124):[A:0.05]
TTGTTCTTCT TTGCAATAAC TTTGAAATGT G
C
GTTTGGAG ACAACAAAAT
11200 |
var(11182):[T:0.36]
AGAAGCATCA GGACACAAAA ATGTATACTA ACCTGGAAGA TTAATGTTGA
11250
TAAGATCAAA GACACTGTGA AAGTGAATTT ACATTTCAGG AATCTTATAT
11300
CTCTCACCAA GAAATCAAAC TTAAGCAACA GTTTCATATG CTAAAAGCGC
11350
TCTTCAAGTC AGAGGCTCTT GATTTAAAAG AATAACTTTC CAAAGGAAAG
11400
GCTAAAAGAA AACAGAGCAG ATTGCCTTAC TAAACTCCCC TTTCCTCTCA
11450
GCCACTGTAG ACCTGTCTTT AGCCGTGACA CCTGTAGAGG GAGTCATTCT
11500
CTAT
C
A
G
G
G
G
T
C
C
C
C
A
A
C
C
C
C
T
G
C
A
C
T
G
G
A
G
A
C
A
G
G
T
A
C
C
T
G
T
C
T
G
T
G
G
C
11550 |
REPEAT
C
T
G
T
T
G
G
G
A
A
C
T
G
G
G
C
C
G
C
A
C
A
G
C
A
G
G
A
G
G
T
G
A
G
C
G
G
T
G
G
G
C
G
A
G
T
G
A
G
C
11600
A
T
T
T
C
C
A
C
C
T
G
A
G
C
T
C
C
G
C
C
T
C
C
T
G
T
C
A
G
A
T
C
A
G
C
A
G
A
A
G
C
A
T
T
A
G
C
T
T
C
11650
T
C
A
T
A
A
G
A
G
T
G
C
G
A
A
C
C
C
C
A
T
T
A
T
G
A
A
C
T
G
G
G
C
A
T
G
T
G
A
G
G
G
A
T
C
T
A
G
G
T
11700
T
G
C
T
T
G
C
T
C
C
T
T
A
T
G
A
G
A
A
T
C
T
A
A
T
G
C
C
T
G
A
T
A
A
T
C
T
G
A
G
G
T
G
G
A
A
C
A
G
T
11750
T
T
C
A
T
C
C
C
G
A
A
A
T
C
A
T
C
C
C
C
C
A
T
T
C
C
C
C
A
T
C
C
A
T
G
G
A
A
A
A
T
T
G
T
C
T
T
C
C
A
11800
T
G
A
A
A
C
C
T
G
T
C
C
C
T
G
G
G
G
C
C
A
A
A
A
A
G
G
C
T
G
G
G
G
A
C
C
A
C
T
G
ATCTAAATGC
11850
ACATTTATAT TTTTATCTAT GTATATTTCA CTTCATGTCT TTATTAGTTT
11900
TTGTACGATG CTTA
C
GTAGA C
T
T
TGAAATA CATTTCCAAA TATAATCTCA
11950 |
var(11915):[T:0.04]
|
var(11922):[:0.03]
TTTTTTAATA TGAATATGAT CTGGAAGTTA CTAGTGTTAT TTATGTGCAA
12000
GTGCAACCAA AGCTCACCCA GGAAATGTCC GTGCTGTGTC TCTTGCCCCA
12050
CAG
G
T
C
A
T
T
A
A
T
A
G
C
A
T
C
T
G
G
G
C
T
C
T
A
T
G
G
C
T
A
C
A
A
T
G
C
C
A
C
C
C
T
G
G
T
G
G
12100 | Exon 5
S L I A S G L Y G Y N A T L V 129
G
A
G
T
A
C
T
C
A
T
G
G
C
T
G
T
C
T
T
T
T
C
G
G
A
C
A
A
G
G
G
A
G
A
C
T
A
T
T
T
C
T
G
G
T
G
G
C
T
G
12150
G V L M A V F S D K G D Y F W W L 146
T
T
A
C
T
C
C
C
T
G
T
A
T
G
T
G
C
T
A
T
G
T
C
C
A
T
G
A
C
T
T
G
GTAAGTTA CAATTGGTTT
12200
L L P V C A M S M T C 157
TCAAAATGCC TTTTTGAAAA AA
A
A
A
A
C
A
T
G
G
C
A
G
A
A
G
G
A
G
G
G
A
A
T
G
G
G
A
G
12250 |
NOT SCANNED
|
REPEAT
T
T
G
T
T
A
T
A
T
G
G
C
A
G
A
G
T
T
T
C
A
G
T
T
T
T
G
C
A
A
G
A
T
G
A
A
A
T
A
T
G
T
T
C
T
C
T
G
A
A
12300
T
G
T
A
T
A
G
T
G
G
T
G
A
T
G
G
T
T
G
T
A
C
A
A
C
A
A
T
G
T
G
A
T
T
G
T
C
C
T
T
A
A
T
G
T
C
A
T
T
G
12350
A
G
C
T
G
C
A
C
A
C
T
T
A
A
A
A
A
T
G
G
T
T
A
G
C
C
G
G
G
T
G
C
G
G
T
G
G
T
T
C
T
T
G
T
T
T
G
T
A
G
12400 |
REPEAT
T
C
C
A
A
A
C
T
A
T
T
C
A
G
A
A
G
G
C
T
G
A
G
G
G
G
G
A
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
12450
T
A
G
G
G
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
T
T
G
C
G
T
C
A
C
C
G
C
A
C
T
C
C
A
G
T
T
C
T
C
C
G
A
A
12500
C
C
T
C
C
T
T
G
C
T
T
G
G
G
C
T
A
A
G
T
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
A
A
G
G
A
T
G
G
A
12550
A
A
G
G
A
G
G
A
G
G
A
G
T
A
G
C
A
G
G
A
G
G
A
G
C
A
G
G
A
G
GGCAAGGAGA AGGAGGAAGA
12600
GGAGCAGGAG GAGGACAAAC AGTTAAAATG GTAAATTTAA AATTGGATTC
12650
CAGTAGATTC TGTCTATTGG AAACAGAAAC AACCATTTTA AAAGATGTAT
12700
ATTTCCTTAC AACCAGTTAT TTGGCCTTTT GTCTGATCTG GCTACACATC
12750
CACTAATACC TCTCAACCAG AGGTGGCTGC ACATTGACAC TTCCATGGGG
12800
AAGGGA
A
A
C
A
G
T
G
C
T
G
C
A
A
T
G
A
A
G
A
T
A
C
G
A
G
T
G
C
A
G
G
T
G
T
C
T
T
T
T
T
G
G
T
A
12850 |
REPEAT
|
var(12842):[C:0.35]
G
A
A
A
C
A
C
A
C
T
G
A
T
GCACGTG GCCCCCACAT ACA
C
T
T
G
A
C
T
C
C
T
C
C
C
T
C
C
C
12900 |
REPEAT
A
A
G
A
C
T
C
T
A
C
T
G
T
C
A
T
T
G
G
T
C
T
G
C
G
G
T
A
G
C
G
C
C
T
G
G
G
C
T
T
T
G
G
G
A
G
T
T
T
C
12950
T
A
A
A
G
C
T
T
C
C
C
A
G
A
T
G
A
C
T
C
T
A
A
A
G
T
A
T
A
G
C
C
A
A
A
G
T
T
G
A
G
A
C
C
C
A
C
T
TC
13000
CTCCATCATT GCC
T
C
T
C
A
A
A
C
T
T
G
A
G
C
A
A
T
A
T
G
A
G
A
A
T
C
A
C
C
T
G
C
A
G
G
G
T
13050 |
REPEAT
T
T
G
T
T
A
C
A
C
C
A
C
A
G
G
C
A
T
C
T
G
C
T
C
C
C
C
G
G
C
C
C
C
A
G
G
G
T
T
T
C
T
G
A
T
G
C
A
G
T
13100
C
T
A
T
C
T
G
G
G
G
T
G
G
G
G
C
C
C
G
A
G
A
A
T
T
T
G
C
G
T
T
T
C
T
A
A
C
G
C
A
T
T
C
C
C
A
C
A
T
G
13150
A
T
G
C
T
G
GGAG AACCACTGTG CCTACGTGAA TTCCCCCTTA CCCACCTGCC
13200
CCCCAGGTCT CCCTTAGAAA AAATTTTTTT GCTGAATTCC TTTTTTTTCA
13250
AACCCAAATC CTTCA
A
ACTA GTTTTTATGT TGACAATGTC TTACATCCTT
13300 |
var(13266):[T:0.05]
TTTCTGGAAA CAAAGATTTC CTTCTTTCTA TATTGTAGTT AAATATAAAA
13350
TACTAATATG CACATAAATA AGCACAGCCT GCTGTGGGCA GTGTCTGCAG
13400
AAGGG
A
TGCC CACCCTTACT GTACCCACGG GTGTGTGGAC GAGGACCTAC
13450 |
var(13406):[C:0.42]
CTGTAGAGCT AAACTCTTCA GGAAGTAATT TGGGCCCTGC TCTGAAGAAT
13500
AGGTTC
G
TGG GAAGGAGGCC TAGCCTGTAA GTGCTCACCA CGCTCCCTTC
13550 |
var(13507):[A:0.02]
CACAATCCAG GAAAATGGGA GTTCTGGTCT TTAAGTGATG GCTCTTTGAT
13600
TGGGCCAACA AGTGAGAGCC TATGAGGGAC CTC
G
GGACCA TGCAGCCCAG
13650 |
var(13634):[A:0.02]
CCCCACAGTT TATGGGCTCT GAGGCTAAGG AGATGCGCCT TGCCTAGGTC
13700
ATGCAATTTA TCAACAGCTC AAGGACACAC ACTCTGCCCC ACCAACTGTG
13750
ATATCATTTT CCTCCAGCTC ACACTACCTG CATCCTTGAA CGATTGTTTC
13800
TCTTTTCCAA AAATAGGTAT ATTAAAGAAA TAATATCTGC CAAATCAGAA
13850
TCAGGGTTGC CTCTAGTGGG GA
G
GGAGGGA CATAAGAGCA AGTGGAGGGA
13900 |
var(13873):[C:0.07]
CAAAGGGGAC TTTAACTATG TAGA
T
AATAT TTTATTTTGT ATGTCATAAG
13950 |
var(13925):[C:0.39]
TACTTCAAAA ATATTTTTAA AATCTCAATA TATAGCTCAC TCTGAGCAAC
14000
CCCAGAGTAG AATTTTTCAA AAGCCAAATA AGCTGAGAGT TGATTTTTTA
14050
CTTTATGTAA TATTTACTGC CTCTATAATA GGAT
T
TATCC CAAGTTTTCT
14100 |
var(14085):[C:0.16]
TTCTGTGGCA AATGTGCCAA CACAACACGT AAGGGGCCTG TTGGCAGGTG
14150
AAACAAAGCC CCTCCAGAGT ATAGCGATTC CGTGTGTCAG CCTGCTTTGT
14200
CACATGCACA TTCTTTTGCT CTGTTCTTTT TTTAG
C
C
C
A
A
T
T
T
T
C
T
C
A
A
G
14250 | Exon 6
P I F S S 162
T
G
C
A
T
T
G
A
A
T
T
C
C
A
T
G
C
T
C
A
G
C
A
A
A
T
G
G
G
A
C
C
T
C
C
C
C
G
T
C
T
T
C
A
C
C
C
T
C
C
14300
A L N S M L S K W D L P V F T L 178
C
T
T
T
C
A
A
C
A
T
G
G
C
G
T
T
G
T
C
A
A
T
G
T
A
C
C
T
T
T
C
A
G
C
C
A
C
A
G
G
A
C
A
T
T
A
C
A
A
T
14350
P F N M A L S M Y L S A T G H Y N 195
C
C
G
T
T
C
T
T
T
C
C
A
G
C
C
A
A
A
C
T
G
G
T
C
A
T
A
C
C
T
A
T
A
A
C
T
A
C
A
G
C
T
C
C
A
A
A
T
A
T
14400 |
var(14353):[A:0.31]
P F F P A K L V I P I T T A P N I 212
C
T
C
C
T
G
G
T
C
T
G
A
C
C
T
C
A
G
T
G
C
C
C
T
G
G
A
G
GT AAGAGACACT GGCTTCTCAC
14450
S W S D L S A L E 221
ATTCGCCCTG GCTCTGCAAG ATACGCAATG GCCTCCTGGT CAACTGTCCA
14500
CGGGTGTCAG AGTCTCCTAG ATGCTCAGGA CTATGGTGGC CTTTCTGCCT
14550
TCATCTTGCC ATTTAAAGCA TTTGTTCTAC TCCAGAGCAT TAGGGTCTAA
14600
GGGATTTTTT AAAATTACTA TTTAGTCAAG CTGATTTTTC TGCCTTTTCC
14650
CCTAAACATC TACAGTGCTA ACCCCAGAGT ACAGTTCCAC TGGGAGTCAC
14700
TCTATCGTAA GCT
T
G
G
G
G
G
T GGGGGTGGGG GTGATGGGAG CCAGCCCTTA
14750 |
var(14714):[:0.62]
|
var(14716):[T:0.30]
AGGCATGTGG CCTCCAGCCT GGTTTTAAAT CTTCCA
C
AGT CTACTCCCTC
14800 |
var(14787):[T:0.31]
CAATCAAAAA ACTGGATGCT TACTC
T
TAGA GCTTCTGACA GAACCTCTCT
14850 |
var(14826):[C:0.31]
ATTCTGCTTT TCCTTATGGC ATAGCTCATA GAACATCTAC AATAATTTAG
14900
G
G
T
T
C
C
C
A
A
G
C
T
T
T
G
G
T
A
G
G
C
A
T
C
A
G
A
A
T
C
A
C
C
T
G
G
G
G
A
G
C
T
T
T
A
A
A
T
A
C
14950 |
REPEAT
C
C
A
A
A
C
A
G
G
C
T
T
C
A
T
C
T
C
A
G
A
C
C
C
T
C
T
A
A
A
T
C
A
C
A
A
T
C
T
C
T
A
A
G
G
G
T
G
G
G
15000
G
C
C
T
G
G
A
A
C
C
T
G
T
T
T
T
A
A
C
A
A
A
C
T
C
C
C
C
A
A
A
T
T
G
T
G
A
T
G
C
G
G
G
C
C
A
G
A
G
T
15050 |
var(15038):[C:0.06]
|
var(15043):[A:0.31]
T
T
G
A
G
A
A
C
C
A
C
T
G
TATCAA
G
GG
A
TGAATCC TATGTATCTC TTTAAAGATG
15100 |
var(15070):[A:0.13]
|
var(15073):[G:0.31]
GC
C
ATAAAGA GATTCTGTAT TTTTTAAAAC CTGGTTAACC CAAATCAAAT
15150 |
var(15103):[T:0.31]
TCCAGCTCTT CCTGTTGGTG TGTAATAAAT ATGTTTAAGG TTTCTGGATT
15200
ATCAAGAACA AGAGAACACC TGAAATTAGA AGAAAACCAA AGAAACCTTA
15250
CCTTTTTAAT GTGCTCTCCC ACTGTCAGGT TATGAAACGC CCTTTTGTCT
15300
TCTTTGTTGA GTGATCAAAA CACACGAGGA GCTCAAGTCA CCTTCTCC
T
T
15350 |
var(15349):[C:0.31]
AG
C
TTCTTGC CAGAAAA
T
TA AAGGGAGCAC CTGGAAATAA TTCAGAAGGA
15400 |
var(15353):[T:0.06]
|
var(15368):[C:0.31]
AAAAATCAAA GATTCATTAG AACTACCCAT GAAAAATAAC AGTATAAAAT
15450
AGCATTAATC GATCTAGAA
C
T
G
C
A
C
T
A
A
C
A
C
A
G
G
A
G
C
C
T
C
T
A
G
C
C
C
C
A
T
G
15500 |
REPEAT
T
G
G
C
T
A
T
A
T
A
A
A
T
T
T
A
G
A
T
G
T
A
G
A
T
T
A
G
T
T
A
A
A
A
A
T
T
G
A
G
T
T
C
C
T
C
A
A
C
C
15550
T
C
T
C
T
A
G
C
C
A
C
A
T
C
T
C
A
G
G
T
G
C
T
T
G
A
T
A
G
C
C
A
C
A
C
G
T
G
G
C
T
A
G
G
A
C
C
C
A
C
15600 |
var(15585):[T:0.04]
T
G
T
A
T
T
A
G
A
C
A
G
C
A
C
A
G
A
T
A
C
A
G
A
C
T
A
T
T
C
C
A
T
C
A
T
C
T
C
G
G
A
A
A
G
T
T
A
T
C
15650
C
T
G
C
A
C
A
G
T
G
C
T
G
ATCTGGG GCAGGGGAAG CCTTGT
C
CTT CTCACTCTGA
15700 |
var(15687):[G:0.38]
ATGAA
C
AGCC CATCCTCAG
C
A
C
CAACCCCA ACCCTATGGC TACCTGAGAG
15750 |
var(15706):[G:0.02]
|
var(15720):[T:0.18]
|
var(15722):[T:0.01]
AGAGTTCTGC AGCCAAGTCC AAAAACAAAC AAACAAACAA AAAAA
G
C
A
TA
15800 |
var(15796):[A:0.01]
|
var(15797):[T:0.01]
|
var(15798):[G:0.42]
TGCCATCTTT GCCAAGTTCC CTGGTCTAGA AATAGCAAAA TGTCTAGACA
15850
TGAAGACTCA GCATGGGCTG GAAGAATTTA GAGTCCATCT TAGGGTAGAG
15900
TCAAACTCAC ACTATGGTCT GGTGCCCTTA GCCAATGTTA GACTCAGCCT
15950
AATATAAGAG GGGAGAAGAC ACTTCCCCTT GTGCCAAAGC TGGGGCTCCC
16000
TCTGG
T
AGAG TCACTGCCTC CAGAAGGTCT TTGGTACATA CACGACCTAG
16050 |
var(16006):[C:0.49]
CA
A
TGGTGGA GAGGGCAAGA TGGGA
A
CTGA GGAAAACATC TTTCAGTAAA
16100 |
var(16053):[G:0.01]
|
var(16076):[G:0.42]
TGGCCTTGCT CAAAAGGGAC ATGCTATGGC TAATTATGCC TATCCTAGCC
16150
CTACCAGAAG TTCAGCTGTA AAGAATGATC ACTTGTTAGG TTCAGTTAAA
16200
CCTTGTTCAC TCCTGAGAAC TGCAATTCTG TGAACAGAAT AACTAAATTC
16250
AGGCCTCAGC CAGAAAGTAG AATTATGACA TTTCCATGTA TTTTTGTGTT
16300
TTGAGACCTG CTTGACAGTT GTTCATAACT AGAATAAGCT AAAAATATCT
16350
TTGTTTAAAT GAATACATGT TCCACTTAAT GACAGAAAAG
T
AAATTCACA
16400 |
var(16391):[C:0.01]
AACTTGCTAA AAATTACTTC TAAATTGTGG ACAAGATAAC CTGGCTTTGG
16450
GTCTCTGGCT TTAG
T
GTAAG CATCCAAATT GCATAGTGAT AATAATCTCT
16500 |
var(16465):[C:0.38]
ATTGAACATA GGGA
T
GCATG GATAGATTAA ATCACCCTCA ACACTGATGG
16550 |
var(16515):[A:0.46]
ACA
T
TTGAAA GCAAAA
G
AAG TGTCAGCTGT GGTCCTTGCC ATCCCCAGTA
16600 |
var(16554):[C:0.11]
|
var(16567):[A:0.38]
GGAGGCAAGG CAGATCCTCA TAGCCAGGAG CAGTGAGTGG CACCAAGCTG
16650
GGAGCTTAAC AGTGACCAAG GCCAAGTGTC AGTGCAAGCA GGAGAGCACA
16700
GGGGGAGCTT TGAGAAGGCA TGTGTTGCAT GCACCAGGGA AGGGCTGGTG
16750
TATCTCTGGG GATAAAGCTG AAGGATGACT GGGATTTTTC TGTAATCAAA
16800
GAGAGAGAAT TTTAAATGGT ATTAACACTG TTCTTGAAAG AGGTAAGGTA
16850
TGTCCAATCT AAAATTACAT TGTAGGAGTT
T
GTGGGTGTC CTGTGGGTTT
16900 |
var(16881):[C:0.47]
CTGTTCAGTT GTTTTGGTAG CCTCATTTTT CTTAAATTTC TTTTGCAG
T
T
16950 | Exon 7
L 222
G
T
T
G
A
A
A
T
C
T
A
T
A
C
C
A
G
T
G
G
G
A
G
T
T
G
G
T
C
A
G
A
T
C
T
A
T
G
G
C
T
G
T
G
A
T
A
A
T
C
17000
L K S I P V G V G Q I Y G C D N 238
C
A
T
G
G
A
C
A
G
G
G
G
G
C
A
T
T
T
T
C
C
T
G
G
G
A
G
C
C
A
T
C
C
T
A
C
T
C
T
C
C
T
C
C
C
C
A
C
T
C
17050
P W T G G I F L G A I L L S S P L 255
A
T
G
T
G
C
C
T
G
C
A
T
G
C
T
G
C
C
A
T
A
G
G
A
T
C
A
T
T
G
C
T
G
G
G
C
A
T
A
G
C
A
G
C
G
G
GTGA
17100 |
var(17078):[C:0.01]
|
var(17095):[A:0.02]
M C L H A A I G S L L G I A A 270
GCACAAGAGC CCTTACCAAA TATTGAGCAC CTCCTCCATC CCATGCATTG
17150
CCTCAGGCAT CTTCTGTGCT CCAGATCTT
T
CTTGAGATCT TGGCTTCCTA
17200 |
var(17180):[C:0.06]
GGGACCAATG GGAGTTCCCG GGATGCTTCC TGCTAACTTT CAATCCCACC
17250
CTCAGTTTCC TTCCAGAACA TCCTGCCTTT AGTCCTGAGT TCTGACCCCT
17300
CCTGTCTTAA CAG
G
A
C
T
C
A
G
T
C
T
T
T
C
A
G
C
C
C
C
A
T
T
T
G
A
G
G
A
C
A
T
C
T
A
C
T
T
17350 | Exon 8 |
var(17340):[A:0.38]
G L S L S A P F E D I Y F 283
T
G
G
A
C
T
C
T
G
G
G
G
T
T
T
C
A
A
C
A
G
C
T
C
T
C
T
G
G
C
C
T
G
C
A
T
T
G
C
A
A
T
G
G
G
A
G
G
A
A
17400
G L W G F N S S L A C I A M G G 299
T
G
T
T
C
A
T
G
G
C
G
C
T
C
A
C
C
T
G
G
C
A
A
A
C
C
C
A
C
C
T
C
C
T
G
G
C
T
C
T
T
G
G
C
T
G
T
G
GT
17450
M F M A L T W Q T H L L A L G C 315
GAGTCTCCCA CGCCCCTGGG GGAGGGCTGC TCATGACTAC AGGATCTCAA
17500
TCAA
G
G
A
T
A
A
G
C
A
G
T
A
A
A
A
A
C
G
G
A
C
T
G
C
A
T
G
A
A
A
A
A
T
C
A
G
G
G
C
C
A
G
G
G
T
T
17550 |
REPEAT
C
T
G
G
C
T
T
G
A
G
C
C
C
A
C
T
T
G
C
T
G
T
C
T
A
A
G
T
G
T
G
T
G
A
A
C
A
G
G
A
C
A
A
G
T
G
A
C
G
T
17600 |
var(17599):[A:0.10]
C
C
C
C
T
C
T
C
T
G
A
G
AGCATTAA AATCACCTCT GCCTACCTCT CTGATGATTG
17650
TGAAGGCAGG AGCCTATTGA GTCATATTAA TATCCTAAAA CATGGATGTT
17700
TGGGAGGATA GAAAAAGAAA AATCCCAGTT ATTCTTCAGC TTTATCCCCA
17750
GAGATACACC AGCCCTTCCC TGGTGCATGC CACACATGCC TTCTCAAAGC
17800
TCCCCCTGT
G
CTCACGGGCT CTCCAGCTTG CACTGACACT TGGCCTTGGC
17850 |
var(17810):[T:0.02]
CACCAATAAG CTCCTAGAAT GGTGGCACTC ACTGCTCCTG GCTGTGAGGA
17900
TCTGCCATGC CTCCCACTGG GGATGGCAAG GACCTCAGCT GACACTCCTT
17950
TTGCTTTCAA CTGACTTGTC TTGCGTTCTT CAAACTAGTT GTTTGACCCA
18000
ACAAACTAAA CGGGAATAAC TCCAGCTAAA TACAGAGCAA TGTCCCCTGG
18050
TAAATCAGGG TTGATTACAT TTACCCCTTT GAGTGAGCAT CACAG
T
AACC
18100 |
var(18096):[G:0.08]
C
A
G
C
C
A
T
T
C
T
A
A
A
A
C
T
T
C
A
G
A
A
T
G
C
A
T
C
A
G
A
A
T
C
A
C
C
T
G
A
A
A
G
A
C
T
T
G
T
T
18150 |
REPEAT
A
A
A
A
C
A
C
A
A
A
T
C
G
C
T
G
G
G
C
C
C
C
C
T
C
C
T
C
A
G
T
C
T
G
A
T
T
C
A
G
C
G
T
C
A
G
A
G
A
T
18200 |
NOT SCANNED
A
A
G
G
G
G
A
A
G
A
A
T
A
T
T
T
C
T
T
T
T
T
T
T
A
T
T
T
T
T
C
T
A
A
A
A
A
A
C
A
G
T
C
T
C
A
T
T
C
T
18250 |
REPEAT
G
A
G
C
C
A
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
T
T
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
A
A
G
A
C
T
T
18300
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
G
A
A
A
A
G
A
A
A
A
A
A
AAA
G
A
A
A
A
A
G
G
G
T
C
18350 |
REPEAT
T
C
A
T
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
G
G
T
G
G
T
G
T
G
A
A
C
A
C
A
G
C
T
C
A
C
T
G
C
18400
A
G
C
C
T
C
A
A
C
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
G
C
A
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
18450 |
var(18425):[G:0.49]
A
A
A
G
T
A
G
C
T
A
G
G
A
C
C
A
C
A
G
G
C
G
T
G
C
C
A
C
C
A
T
G
C
C
T
G
G
T
T
A
A
T
T
T
T
T
T
A
T
T
18500
T
T
T
T
A
T
A
G
A
G
A
T
G
G
G
G
T
C
T
C
C
C
T
A
T
G
T
T
A
C
C
C
A
G
G
C
T
G
A
T
C
T
T
G
A
A
T
T
C
C
18550 |
var(18508):[C:0.09]
|
var(18535):[C:0.15]
C
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
C
C
C
G
C
C
T
C
C
A
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
18600
G
G
C
A
T
A
A
G
C
C
A
C
C
A
T
G
C
C
GG C
A
G
A
A
T
T
T
C
C
A
C
T
T
C
T
A
A
C
A
A
G
T
T
C
T
C
A
G
G
18650 |
REPEAT
G
G
G
T
G
C
T
G
A
T
G
C
T
G
T
T
G
C
T
C
T
C
A
G
G
A
T
C
A
C
A
T
T
T
C
A
A
G
A
A
C
T
G
C
T
G
TATT
18700
AATCCTTTC
T
GACTCCCAGT GTTCTAGCCA GACTCAGCC
T
G
T
C
A
G
A
G
C
G
A
18750 |
var(18710):[G:0.05]
|
REPEAT
G
A
A
G
G
C
A
T
C
C
T
G
A
G
A
C
C
T
C
T
A
C
T
C
C
A
T
C
C
T
T
C
T
T
A
C
T
T
T
A
C
T
G
T
T
G
G
G
G
T
18800
C
C
T
G
A
G
G
C
C
A
G
A
G
A
G
G
C
T
A
A
G
G
G
A
T
G
T
G
C
C
G
C
A
G
G
G
AATC TGGACAGC
A
A
18850 |
var(18849):[G:0.41]
TGGGTAAATC CACCCCCGGA ACCCACACTT ACCATCCACC TCCAGAGTTA
18900
TCCCACCGCA CTCCTCTGCT TCCCTTTTAT AGCATTCAGG CCCTCACGGC
18950
AACCTCTTAG GTGAAAACAG ACTGCATGTG ATTTGGATCT GAAAAGCTAA
19000
TAGATCCCAG GTGGATTTTG AGTGGAGGCT CATTCACCCA TAGCCTCTGG
19050
CATGCCTAAT TCAATCAAAG TATAAGCATT TAAGATAAT
A
TTCTAGAGTG
19100 |
var(19090):[G:0.41]
GAGAGAATGA GATTTGCTTG GGAACAAAAA GGAGGAGGGA TAGTGTAATG
19150
TGGAGAAATT ATGTCTAATC TAGTGGAAAT ATATGTCTAG AATCAGTTTA
19200
TCACCAGATT AATCAAGCCA AGGTATCTAA AC
A
GTTA
T
GA AAACAGTGGG
19250 |
var(19233):[G:0.40]
|
var(19238):[C:0.40]
CCATGTAT
C
A
G
G
C
G
G
G
T
T
T
A
G
A
A
T
A
G
A
T
T
T
C
T
G
C
A
C
T
G
G
C
A
G
A
A
A
A
T
G
G
G
19300 |
NOT SCANNED
A
T
G
G
T
A
C
C
A
A
C
G
G
T
T
T
C
T
A
A
A
G
A
C
C
C
A
T
T
C
C
A
T
T
T
T
G
A
T
T
C
G
A
T
G
C
T
A
T
A
19350
G
C
A
A
G
G
G
T
A
A
C
A
T
A
A
C
T
C
A
G
G
T
T
G
C
T
G
T
G
A
T
G
T
A
G
C
C
A
T
G
T
A
G
A
T
G
T
C
A
T
19400
T
T
T
G
T
C
A
A
A
T
T
C
T
T
T
A
C
T
A
T
T
A
C
T
C
A
G
C
T
A
T
T
T
C
A
C
C
T
A
G
C
T
G
T
T
C
T
G
T
T
19450
G
A
A
A
T
G
T
T
G
A
A
C
T
C
C
T
T
C
T
C
C
A
T
A
T
T
C
G
T
T
C
A
C
A
A
G
G
A
T
A
A
A
G
GAGAGGA
19500
TTACAGACAG GTGCTGTAGC CACCTGAGTT CAGCTGGGTT GGAATGTTTA
19550
TCCTACAACC TTTCAGCTTT ATTCTGAGAT T
G
GTTAGGGG TTTCCACCTG
19600 |
var(19582):[C:0.48]
AGTTCAGCTG GGTTAGAATG TTTATCCTAC AACCTTTCAG CTTTATTCTG
19650
AGATTGGTTA GGGGTTT
C
AA ACCTTTATTT GGGATGCATA CCTTTATTTT
19700 |
var(19668):[A:0.02]
TCTGGAGGAA GTAGCCACAA ATATGTATTA AACACACATG ATACAAAAGA
19750
CAGTACCAGG AAGAGCAAGG GGTTTAGAAG CTTTAGGTCC CATGCAGTTC
19800
CTGCACAGAG TGTTACAATA GAGGGCAGAA GCCAGGCAAG GGAG
G
GAGCC
19850 |
var(19845):[T:0.06]
CAAGAGGACC ATGCAATCTT TGTGGGAGAA GAAGAAGTCC ATAGTACAGG
19900
ATTCTCCAGG GGGCCATTTC CACTCAGAAT TATCACAAAG TACCTCCAGG
19950
AAGAAGGGGG CTTTTCCATA AATGCTAGAA AATAAGAGGA
G
G
A
A
T
T
C
T
G
T
20000 |
NOT SCANNED
T
T
G
G
T
G
G
A
A
A
G
T
G
T
G
G
T
G
C
A
G
G
C
C
A
G
C
A
T
G
G
G
G
A
C
A
G
C
C
T
G
A
G
C
A
T
G
T
C
C
20050 |
REPEAT
T
T
C
A
A
G
A
T
C
A
A
G
G
A
G
A
A
G
G
C
A
T
T
T
T
G
A
G
C
A
C
A
G
G
A
G
A
T
G
G
C
G
A
C
G
A
G
G
T
T
20100
T
T
T
G
T
T
T
T
T
C
T
G
G
G
T
T
T
T
T
T
G
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
T
G
G
T
T
T
T
T
T
T
T
T
T
T
20150 |
REPEAT
T
T
T
T
T
T
T
T
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
A
G
G
C
T
G
G
A
A
T
G
C
A
G
T
G
G
C
A
C
20200
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
C
G
A
C
T
C
C
C
T
G
G
T
T
C
A
A
G
C
G
G
20250 |
var(20231):[T:0.12]
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
C
T
T
A
C
A
G
G
C
A
C
G
C
A
C
C
A
T
C
20300
A
C
G
C
C
T
A
G
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
T
G
T
T
20350 |
var(20308):[C:0.33]
G
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
T
T
C
T
G
A
C
C
T
C
A
T
G
A
T
C
T
G
T
C
C
A
C
C
C
C
G
G
C
C
T
20400
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
T
A
T
G
A
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
GGGTGCTG
20450
AGTT
T
T
T
T
G
T
T
T
T
A
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
G
A
G
A
T
G
G
A
C
T
C
T
T
G
C
T
20500 |
REPEAT
|
var(20466):[:0.07]
C
T
G
T
A
G
C
T
C
A
G
G
C
T
G
G
C
A
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
20550 |
var(20530):[A:0.12]
C
T
G
C
C
T
C
C
C
G
G
G
T
C
C
C
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
20600 |
var(20553):[:0.01]
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
G
20650 |
var(20640):[:0.91]
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
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
20700
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
20750 |
NOT SCANNED
C
A
G
G
C
G
T
G
A
G
C
C
A
C
A
G
T
G
C
C
C
A
G
C
T
A
G
T
G
A
T
G
A
G
G
T
T
T
T
G
A
C
A
G
A
C
C
A
T
G
20800
G
A
G
A
A
G
A
A
T
G
A
A
G
T
C
G
A
A
G
C
T
C
T
T
G
A
C
A
T
G
T
T
G
T
T
T
C
C
C
C
A
A
A
G
T
G
G
G
A
A
20850
T
C
T
T
T
G
A
T
A
T
T
T
T
C
T
C
A
A
T
T
A
T
A
G
A
A
G
C
A
G
C
A
C
A
G
A
T
T
T
A
T
T
G
T
A
T
A
A
A
A
20900
C
A
A
A
A
C
A
A
A
A
A
T
G
T
A
A
T
C
T
G
T
A
T
A
G
A
A
A
T
G
T
A
T
G
A
A
A
C
A
G
A
A
A
G
T
G
G
A
A
A
20950
T
A
C
T
C
C
A
T
C
T
T
A
C
T
C
C
C
T
A
G
A
G
A
G
G
G
C
T
T
T
T
T
T
G
C
C
C
C
C
T
T
C
T
T
A
T
A
A
G
G
21000 |
REPEAT
A
T
C
C
T
T
G
T
G
A
T
T
A
C
A
T
T
G
G
G
T
C
C
A
T
T
C
A
A
T
A
G
T
C
T
A
G
G
A
A
A
T
T
C
T
C
T
C
C
A
21050
T
C
T
C
A
A
G
G
T
C
T
T
T
A
A
C
T
T
A
A
T
C
A
C
A
G
C
T
G
C
T
G
C
T
A
A
T
T
C
C
C
T
T
T
T
G
C
C
A
T
21100
G
T
G
A
G
G
T
C
A
C
A
T
A
T
T
C
T
C
A
A
G
T
T
C
T
G
A
G
G
T
T
T
A
A
G
A
T
G
T
A
G
A
C
G
T
C
T
T
T
G
21150
G
A
G
A
C
C
A
T
T
A
T
T
C
T
T
C
C
T
A
C
C
A
C
A
C
T
C
A
C
C
T
T
C
C
T
T
T
G
G
A
T
A
G
A
T
T
T
T
T
T
21200
T
T
T
T
T
T
T
T
A
A
C
T
G
G
T
G
T
A
G
C
A
T
A
A
T
G
G
T
T
G
A
G
G
C
A
G
T
C
A
A
C
T
G
A
G
C
T
A
A
A
21250 |
REPEAT
G
A
G
C
T
C
A
G
A
C
T
C
T
G
G
T
G
C
C
A
G
A
C
A
G
C
C
T
G
G
A
T
T
C
A
A
T
T
C
C
A
G
C
A
G
G
T
C
T
G
21300
C
T
A
C
T
T
A
C
T
A
G
C
G
T
A
T
T
T
G
C
T
T
A
T
G
A
A
T
G
T
A
A
G
C
A
A
A
T
T
A
C
T
T
A
A
C
C
T
T
T
21350
C
T
A
T
G
C
C
T
C
A
G
T
T
T
C
C
C
C
A
T
C
T
T
A
G
A
A
A
A
T
G
G
A
A
G
T
T
A
C
C
A
T
A
T
T
T
A
A
T
T
21400
C
A
T
A
C
A
A
T
T
G
T
T
C
T
G
A
T
G
A
T
T
A
A
G
T
T
A
G
T
T
A
A
T
G
C
A
T
G
T
C
T
G
A
A
A
C
T
C
A
T
21450 |
var(21449):[G:0.20]
A
G
A
A
C
A
A
A
T
A
G
T
G
T
C
T
A
G
C
A
C
T
C
G
G
T
C
A
G
C
A
C
T
ATTTAAA AGTCTGGAAA
21500 |
var(21475):[C:0.09]
AACAGTTTTT CTGGTGGATT TGCATAACTT ATTAAGAATC AAGCTTGTTT
21550
ATTTTCTCCT CTCAATTGCT TAAGTTTATC AACA
C
CTGTA TCTTCTCCCC
21600 |
var(21585):[T:0.08]
AAATATGACT GATACCCAAG CCTGCCTTTA CTTCCTCTGA GAAGGCCCAC
21650
CCCTGATGAC TACTAAAACC ATTGATACTG TATAGAATTT TTATTTTGGA
21700
TTTGTCGTAA GTATAAGTTT TTGTTTT
T
GG TACTTGCTTA TTTAGGCAAC
21750 |
var(21728):[G:0.08]
TGTAAACTTT ATTAACTTGC TTATTCACTC TGACTTAGTT CATATTAACC
21800
TTCTGTAC
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
A
C
T
C
T
G
T
T
C
C
C
C
A
G
G
C
T
21850 |
REPEAT
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
21900 |
var(21889):[A:0.22]
C
A
A
G
C
G
A
T
T
C
C
T
A
T
G
C
C
T
C
A
G
A
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
A
C
A
T
G
21950
C
A
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
T
A
C
T
T
T
T
T
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
T
22000
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
T
22050
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
T
G
G
T
G
GATTAC TTTTTCAAAG
22100
AGGGTTTGCA AAGAGAGTTT TGTTTTCTTC AAAGAGGGTT TGCAAA
G
A
G
A
22150 |
REPEAT
C
C
T
T
G
T
A
T
G
C
T
G
G
A
G
A
A
T
A
T
C
T
T
C
A
T
T
T
T
A
C
C
T
T
C
A
T
T
T
A
A
A
T
T
T
T
A
G
T
T
22200
T
A
G
C
T
A
G
C
T
A
C
C
A
A
A
C
T
C
A
A
G
A
T
T
T
A
A
C
A
T
T
T
T
T
T
T
C
T
C
A
A
T
A
T
T
T
T
G
A
A
22250
A
G
T
T
G
T
C
C
T
C
A
A
A
G
A
C
T
A
C
T
C
C
A
T
T
G
T
C
T
T
C
T
T
A
T
A
C
C
C
A
A
A
A
T
T
G
C
T
A
T
22300
T
A
A
G
A
T
G
T
C
T
G
A
A
A
A
G
A
A
A
C
T
A
A
T
T
C
T
T
G
T
T
A
A
A
A
T
T
G
A
T
T
T
T
A
T
T
T
T
T
C
22350
T
C
T
C
T
G
G
A
C
T
C
T
C
T
G
A
A
T
T
T
T
C
T
C
T
T
T
G
C
A
T
A
T
G
A
G
A
T
A
T
A
T
A
T
A
T
A
T
G
G
22400 |
var(22387):[:0.97]
T
T
T
T
A
T
T
T
C
A
C
T
A
T
T
A
T
C
T
G
T
C
T
A
G
A
T
G
T
A
A
C
T
T
T
T
T
T
T
T
C
T
A
T
G
C
T
A
G
T
22450 |
var(22420):[A:0.01]
|
var(22433):[:0.07]
A
G
G
T
A
C
T
C
A
A
G
T
C
C
T
C
T
C
A
A
C
A
T
G
A
G
C
C
C
T
C
A
T
A
T
C
T
T
C
C
T
T
T
A
A
T
T
C
T
G
22500
G
A
A
A
C
A
T
C
A
T
C
A
G
T
T
T
T
T
A
C
T
T
T
G
T
C
A
A
A
T
C
T
T
T
T
C
A
A
T
T
T
T
T
C
C
C
C
T
C
T
22550 |
var(22512):[C:0.01]
C
C
T
T
C
T
G
T
G
A
T
T
T
C
T
A
G
T
A
T
T
T
G
A
G
T
A
C
A
A
T
A
C
T
T
T
A
T
G
C
T
A
A
G
T
T
T
T
T
C
22600
A
T
A
A
C
T
C
T
T
G
A
C
T
T
T
T
T
C
T
T
A
A
T
A
T
T
T
T
C
C
A
T
C
T
A
T
C
T
T
T
T
CCTGAGGCC
22650
CTTCAGTTCA GCTGATTGGC CCGATCATTC TTTGGCTCTG TCCATTGC
G
C
22700 |
var(22699):[A:0.05]
CGATCACATT ATCTGTTGAG TTCTCCATTT CTGGTTCATT AATTAAATTT
22750
TACT
G
G
C
T
G
G
G
T
G
C
A
G
T
G
A
C
T
C
A
C
A
C
C
T
G
T
A
A
A
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
22800 |
REPEAT
C
C
A
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
A
A
G
G
T
C
A
A
G
A
G
A
T
T
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
22850
A
C
G
G
T
G
A
A
A
C
C
C
C
A
T
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
T
G
G
G
C
G
T
G
G
T
22900
A
G
C
A
C
G
C
G
C
C
T
A
T
A
G
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
C
C
A
22950
C
T
T
G
A
A
C
T
C
G
G
A
A
G
G
C
A
G
A
G
C
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
23000 |
var(22986):[G:0.15]
|
var(23000):[G:0.02]
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
A
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
G
A
A
A
A
A
A
TTATCGA
23050
CTGTAGGTTG TTCAGTTTGT TGTCCTTCTT TTATGGTATT TGCTCTCCTG
23100
GGATGTCCCC TTTCCTTGTC CTGGGAGCTC ACGTTTCCCT CGGGATACCA
23150
GCTGTTTGGG TGAGTCTCTG GGCAGAGATG GAAGCCCAGG TTGGAGCTGC
23200
ATTTTTCCTG GTGCATCTAA GGAAAAAGGG GTCCCCTGCC ACAGGGTGTA
23250
GAACCTCCAT TGCTCAAGGC
C
GTGGAGATG GTGACTGTGT AGACAT
T
T
T
A
23300 |
var(23271):[T:0.06]
|
REPEAT
T
A
T
G
A
T
A
A
G
T
G
C
C
C
T
T
T
T
G
C
T
G
G
G
G
G
A
A
G
T
T
C
A
G
A
T
T
G
C
T
T
C
T
A
G
T
T
T
G
A
23350
A
A
T
C
A
T
T
A
C
A
A
A
G
A
G
T
C
C
T
G
A
A
A
T
G
A
A
T
A
T
T
T
T
T
G
G
T
A
C
A
A
A
T
G
T
C
C
T
T
G
23400
T
G
T
A
C
T
T
T
G
T
A
C
A
A
G
C
A
T
T
T
C
T
G
T
A
A
G
A
A
A
G
A
A
G
A
T
T
C
A
C
C
T
T
C
T
T
T
T
C
A
23450 |
var(23422):[G:0.02]
A
G
A
A
G
C
T
A
A
A
T
T
G
A
T
G
G
G
T
T
A
A
A
G
G
G
A
A
T
G
C
C
A
A
T
T
T
T
G
A
T
T
T
C
A
G
T
G
G
A
23500
T
G
C
C
A
A
C
T
T
C
A
T
C
T
C
C
A
A
A
A
G
A
G
C
C
A
T
A
C
C
A
G
T
T
T
C
C
A
C
T
G
C
T
G
C
C
A
G
C
A
23550
G
T
G
T
G
T
G
A
G
A
G
T
G
C
C
C
A
C
T
G
G
G
C
C
C
C
C
A
C
A
A
G
G
T
A
C
A
A
T
C
A
G
A
C
T
T
T
T
A
A
23600
A
T
C
T
C
T
G
TGC ATGGATTTTT GAGACAGATC TCCAGCCCCC CTTGGAAAGC
23650
AAATCTCACA TGTAAAATGC CACAGCAAGT TTCAGCTTGT CCACATCACC
23700
CTGATACTGC CAAACAAAAG ACCAACCCTC TTAGCCAACA TAAATAAGTG
23750
ACAGACATTT ATTACAGAGC TGTTTTTTTA TCAGTCCCCA GTGGCTTTAT
23800
CAGGAAGTGG ACTCAGGAAA CTCTGACAGA ACCTGGCACT GCTGTCTTTC
23850
TGGCCTCTAA GCCAGAGCAA CTGCGTGGCC AGAGAACATC TCAATGTTGT
23900
TGTTTTACCA GTGGAGAGTG TAAACATATT GTGTATCTCT TCCCAATGGT
23950
TGGGTTATCG CAGTGGGACT CACCTGTGGC AGTCCATTGG AAGGGACACT
24000
ATCCAGGAGG AGCTGAAATC
C
AGTTTCCCC TTCAGTACTC AAGGG
C
CTTT
24050 |
var(24021):[T:0.07]
|
var(24046):[T:0.16]
TCTTCCCTCA GCTACCAAGA ATGCTGTCAG GGTCATTGCC TACAAACTGA
24100
TGATGCTGTG CAGAATTGCG CCTCTACTGT AAGGCTTTCC
C
GGTCCTACT
24150 |
var(24141):[T:0.01]
TGGCGAGTCT TAATTGACAT ACCTACCATT AAATAATCTA TCACTTGTAC
24200
TATGGAGAGA AAAGCAACTT TGAATTGGAG ATCACTTCAC AGCAGCATAA
24250
CAGTATGAGA CGTAAACGTG CCAAAAGTGA GCCTTAGAAG TGTAATGGAT
24300
ATTTTAAAAA GAGAGAAAGC AACAAGGCCT CATGTGCTCA GGGGTGGTGT
24350
TGTGGTAGAG GGGGCACTCA AGAGATCAGG GACAGAGGGC C
C
CAGTGCTT
24400 |
var(24392):[G:0.03]
GGCAGAGGGC CAATGAATAG TTGTTAAATT AATTGATTAA ATTTCAACAA
24450
TGAATGAAAT TGGTGTAACC AAGGAGAGAA ACCCTTCTAA GCCAAGCCAT
24500
GAGCACCCTT CTGCTCAGAG CAGTAGCTCA GTCCCATGGT GAAAGAGATG
24550
CATTTACAGC TGTGTTTATG GAAATACAAG CTCTCATTTG AGATTCTTCA
24600
CCTCCCAGTA AGGCAG
A
TCT TCAAGGTG
C
C
T
T
T
T
T
A
C
A
G
A
T
G
A
T
G
A
A
A
C
T
24650 |
var(24617):[G:0.01]
|
REPEAT
A
G
A
T
T
C
C
A
A
G
A
C
A
G
T
G
A
T
T
T
G
T
T
A
T
A
C
A
A
C
A
A
A
T
A
A
A
A
T
G
G
C
A
G
A
G
C
T
G
G
24700
G
A
T
T
T
G
A
A
A
C
C
A
G
T
A
C
T
G
T
T
T
C
C
A
A
A
G
A
C
C
A
G
C
C
T
T
T
C
C
C
A
C
T
A
GTGTGA
24750
GACAATTCAT ACGTGAAAGA ATTTGATATA CTATTGAATA AGAAACACCA
24800
GGATAAAAAG ACAAAATATT GGTAAAAGGA CAGAAGTCTA TGGTAAAGTA
24850
AATGAGGATC ACAGAGCCTC TCCCACCATG TCTGCCACAT CCCCACACAC
24900
CAAGATAGCT GA
C
GTACCAG ACATGAAGAC GAGATGGTGA GTGTGTCTCA
24950 |
var(24913):[T:0.29]
C
G
GTGAGCTC CGGTGGCCCA AGTGGCTGTG TGGCCATTAT ATGAAGGTCA
25000 |
var(24952):[A:0.14]
TTCTTCAGGC TGTCCCCATG AAACCTGAGG GCTTCCCTGA GCCTCTGTGA
25050
GCCTTCTCTT CAACCAAAAC TGAGGAATAG ATAATTAGCT GGTTGAGATC
25100
TTTGCTTTTG TTGTTTTACA
T
TGAAAGTCA CCCATATACT CGAATTACTG
25150 |
var(25121):[C:0.36]
ATTCTACAAT TTTTTGGCCA CTCAAAGCAA A
T
A
A
A
A
A
C
A
T
A
A
G
A
C
G
T
T
G
G
25200 |
NOT SCANNED
|
REPEAT
C
T
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
T
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
A
25250
C
G
G
G
C
A
G
A
T
G
A
C
A
A
G
G
T
C
A
G
G
A
G
A
T
T
G
A
G
A
C
C
A
T
C
C
T
G
G
T
T
A
A
C
A
T
G
G
T
G
25300
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
C
A
A
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
A
25350
G
T
G
G
T
G
G
G
C
A
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
G
A
G
A
A
T
25400
G
G
C
G
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
A
G
A
G
A
T
C
A
C
G
C
C
A
G
T
G
25450
C
C
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
T
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
C
A
A
A
A
A
A
A
A
T
A
A
A
A
25500
A
A
T
A
A
A
A
A
A
A
A
A
GACGTTTA TTCATTGATT TTAATGGTAT TGGAGAAGAT
25550
GTTATCAAGG GGAGGAATCT CAAGTTTGTG TTCAGTTCCT GCTGTTCTCT
25600
GAGTTCTTTC CTTCTTATTT TGTAAACATG GTTTTGTTTT GGTTTTTAGT
25650
ACACAGGCTG CCAAAGCAAG CACTATGATT TTTTGTAGCT GTGAATTCAA
25700
TTCATTAATA TGAGAATCCT AGATGCTATC TCAAGAAACA TTCATAGGTT
25750
TCATTTTAAT TCAGCTATGC TTGGATAAAA CATCAGAGAA ATTTATTTGC
25800
CATGGAAGGC CTTTCCCTTA AGTATTAGCA ATAACAACAA AATAGTAACC
25850
ATAAAAAAAC T
A
C
C
T
T
T
A
T
T
G
A
G
C
A
C
T
T
A
C
T
G
T
G
T
G
C
T
A
A
A
C
A
C
A
T
G
C
A
T
25900 |
REPEAT
T
A
T
T
T
C
C
T
T
T
C
A
T
C
C
T
C
A
C
A
C
C
A
A
C
A
C
C
A
T
G
A
A
A
A
A
T
A
T
A
T
T
C
C
T
C
T
T
A
C
25950
T
T
C
C
A
T
T
G
T
A
C
A
G
G
T
G
A
G
G
A
A
A
T
G
G
A
G
G
C
T
T
A
A
A
A
C
A
G
A
G
C
C
C
A
T
G
G
A
G
C
26000
T
C
C
T
A
A
G
T
G
A
T
G
G
A
G
C
C
A
G
G
A
T
T
T
G
A
A
C
C
C
A
G
G
A
C
T
G
C
T
G
A
C
T
T
T
A
G
G
C
T
26050
C
A
T
G
C
T
T
G
T
A
A
T
C
A
GGGCAC TGTGCATTCC AGGTGATTTA TATTGGAAGG
26100
CAGCCTTTCC TGTGATTAAA A
G
TGCATCTA CGAAGCATTG TTCTTTCCCT
26150 |
var(26122):[A:0.13]
CCTTTTTTTT TCTGTAG
C
C
C
T
G
T
T
C
A
C
G
G
C
C
T
A
T
C
T
T
G
G
A
G
T
C
G
G
C
A
T
G
G
26200 | Exon 9
A L F T A Y L G V G M 326
C
A
A
A
C
T
T
T
A
T
G
G
C
T
G
A
G
GTG AGTTTGCTTT AGTCTCACTT TTCATTAGCG
26250
A N F M A E 332
TAATTGACCA GCTTACAACT ATATGGGAAA TGCTCCTGAA GTCCACTGGG
26300
CTGGCATCCA GTGGCAGGAT CCATGACCAT GAGAAGCACT GCTCTCCCTT
26350
CTCCTGGAGC TCCCTGGCCT TTCTTTCAGC ATCACAGCAA ACTTTAGTCC
26400
AAACCACAAT CACCCAGTTG TTACAAGTAT CAGATTGCTT GGTTTAAAAA
26450
AAAATGAAAC
A
TAGGTTGTA TAACATATTA TCAAGTTCAG AGTCTAACTC
26500 |
var(26461):[G:0.41]
TAAGTGATAA GAAGTAGACT TTAGGATATC TTTTACTTAA ACAGAAAGCC
26550
AGATATTCCA TTGCAGGTGA TGCAGG
C
CCG GTTTCTGATA GCTTAGTCCA
26600 |
var(26577):[G:0.43]
TGTTGATGTG GTCATGGCTG CTAAGGAGTC AAGGCAGTAT CTAGCCCTTT
26650
TGGCAGCAGC ATGGAGATTT TATCTGGGAG GGTCCTTAAG GAGACACAGT
26700
GTCTTTCTGG TGGAAAGCCA AAGTCCCATT ACACACATGC ATGATGGAGA
26750
GTACATCAGA GCACATGGGG CCCTTCACAT GTCAACAAAG AAG
G
TTCACA
26800 |
var(26794):[A:0.06]
GGCATCAGTC CCAGGACCCA AATGGGCAA
G
C
T
G
C
A
C
A
C
C
A
G
A
G
T
C
A
G
C
T
A
26850 |
REPEAT
G
G
A
A
G
A
C
G
G
A
A
A
A
A
T
A
T
G
G
A
G
C
C
T
T
A
G
G
C
C
C
T
G
T
C
C
T
T
T
G
G
T
A
T
T
T
C
T
G
A
26900 |
var(26858):[A:0.06]
T
A
G
A
G
T
A
G
G
T
C
T
T
G
T
A
T
G
A
T
G
C
T
T
G
A
A
C
A
T
C
T
G
T
G
T
T
T
T
T
T
T
T
T
A
A
C
T
C
C
26950 |
var(26936):[:0.24]
C
C
C
A
G
A
T
G
A
T
T
C
T
G
A
T
G
T
G
C
A
G
T
C
A
GATTA GGGTACCCCT ACACTCCATC
27000
ACACCCCAGG GAGGTCCATG CATC
A
GGTCA GAGCTAACCA ATGGTGTATG
27050 |
var(27025):[G:0.49]
CTCAGAATTG TGTGAGTTTC CATGAGCAGC ACAAAGAGGA CCTACCCTCA
27100
AGGAACTTAG AGTCTATTTG GGAGACAGAA TGGAAA
G
AAA CAAAGCAAGT
27150 |
var(27137):[A:0.17]
CAAGTCTAAG ATCTAGACCA GGCAGAAGTC AAGGTCAGAG AGGTCACTGT
27200
GGGCTGGACT AATCAGAGAA GGCCTTGTGG ACATGAAGAC TGGTCAGGGG
27250
CCATTTGCAG TTTGCAAGTG TCATCTCTGT CAAATGTTCT CTTGGCACAT
27300
CTGGTGCAGG AAGTCTGAAT AT
A
TGAGAGG GAGAGAAAGA CATACAAGAT
27350 |
var(27323):[G:0.01]
AGAGACATAA GTGGCTGCCC TAAAGAATGG ATGTCAACAT TCCAACAACT
27400
CAATGCCCTG AGATTG
T
AAA TTCAGTCTCC ACGAGCATGC ACAGAATCCA
27450 |
var(27417):[G:0.39]
GAGCAATGCC CCCAGTGGTT CATCCCCCTG GGCTGAATGC AAGTAGAGGG
27500
GGATGCCTTG TGCAGCTCAG CTGTCAGATG GGATCTGAAA GGAGC
G
TGTG
27550 |
var(27546):[A:0.22]
GCTTTCTCTT CTTCCCCAG
G
T
T
G
G
A
T
T
G
C
C
A
G
C
T
T
G
T
A
C
C
T
G
G
C
C
C
T
T
C
T
27600 | Exon 10
V G L P A C T W P F 342
G
T
T
T
G
G
C
C
A
C
G
C
T
A
T
T
G
T
T
C
C
T
C
A
T
C
A
T
G
A
C
C
A
C
A
A
A
A
A
A
T
T
C
C
A
A
C
A
T
C
27650
C L A T L L F L I M T T K N S N I 359
T
A
C
A
A
G
A
T
G
C
C
C
C
T
C
A
G
T
A
A
A
G
T
T
A
C
T
T
A
T
C
C
T
G
A
A
G
A
A
A
A
C
C
G
C
A
T
C
T
T
27700 |
var(27668):[C:0.02]
Y K M P L S K V T Y P E E N R I F 376
C
T
A
C
C
T
G
C
A
A
G
C
C
A
A
G
A
A
A
A
G
A
A
T
G
G
T
G
G
A
A
A
G
C
C
C
T
T
T
G
T
G
A
G
A
A
C
A
A
G
27750 |
UTR
Y L Q A K K R M V E S P L 389
C
C
C
C
A
T
T
T
G
C
A
G
C
C
A
T
G
G
T
C
A
C
G
A
G
T
C
A
T
T
T
C
T
G
C
C
T
G
A
C
T
G
C
T
C
C
A
G
C
T
27800
A
A
C
T
T
C
C
A
G
G
G
T
C
T
C
A
G
C
A
A
A
C
T
G
C
T
G
T
T
T
T
T
C
A
C
G
A
G
T
A
T
C
A
A
C
T
T
T
C
A
27850
T
A
C
T
G
A
C
G
C
G
T
C
T
G
T
A
A
T
C
T
G
T
T
C
T
T
A
T
G
C
T
C
A
T
T
T
T
G
T
A
T
T
T
T
C
C
T
T
T
C
27900
A
A
C
T
C
C
A
G
G
A
A
T
A
T
C
C
T
T
G
A
G
C
A
T
A
T
G
A
G
A
G
T
C
A
C
A
T
C
C
A
G
G
T
G
A
T
G
T
G
C
27950
T
C
T
G
G
T
A
T
G
G
A
A
T
T
T
G
A
A
A
C
C
C
C
A
A
T
G
G
G
G
C
C
T
T
G
G
C
A
C
T
A
A
G
A
C
T
G
G
A
A
28000
T
G
T
A
T
A
T
A
A
A
G
T
C
A
A
A
G
T
G
C
T
C
C
A
A
C
A
G
A
A
G
G
A
G
G
A
A
G
T
G
A
A
A
A
C
A
A
A
C
T
28050
A
T
T
A
G
T
A
T
T
T
A
T
T
G
A
T
A
T
T
C
T
T
G
G
T
G
T
T
T
A
G
C
T
G
G
C
T
C
G
A
T
G
A
T
G
T
T
A
A
C
28100
A
G
T
A
T
T
A
A
A
A
A
T
T
A
A
A
C
C
C
C
A
T
A
A
A
C
C
A
A
C
T
A
A
G
C
C
T
T
A
T
G
G
A
A
T
T
C
A
C
A
28150
G
T
C
A
C
A
A
A
A
T
C
G
A
A
G
T
T
A
A
T
C
C
A
G
A
A
T
T
C
T
G
T
G
A
T
A
A
G
C
A
G
C
T
T
G
G
C
T
T
T
28200
T
T
T
T
T
T
A
A
A
T
C
A
A
T
G
C
A
A
G
T
T
A
C
A
C
A
T
T
A
T
A
G
C
C
A
G
A
A
T
C
T
G
T
A
T
C
A
C
A
G
28250
A
G
G
T
G
C
A
A
G
C
T
G
A
C
A
G
C
A
G
A
G
C
T
C
A
G
T
C
C
C
C
A
C
T
T
C
C
T
G
C
A
A
A
C
A
A
T
G
G
C
28300
C
T
G
C
A
C
C
C
T
A
T
C
C
C
T
T
G
T
G
T
G
T
G
T
G
A
C
A
T
T
C
T
C
T
C
A
T
G
G
G
A
C
A
A
T
G
T
T
G
G
28350
G
G
T
T
T
T
T
C
A
G
A
C
T
G
A
C
A
G
G
A
C
T
G
C
A
A
G
A
G
G
G
A
G
A
A
A
G
G
A
A
T
T
T
T
G
T
C
A
A
T
28400
C
A
A
A
A
T
T
A
T
T
C
T
G
T
A
T
T
G
C
A
A
C
T
T
T
T
C
T
C
A
G
A
G
A
T
T
G
C
A
A
A
G
G
A
T
T
T
T
T
T
28450
A
G
G
T
A
G
A
G
A
T
T
A
T
T
T
T
T
C
C
T
T
A
T
G
A
A
A
A
A
T
G
A
T
C
T
G
T
T
T
T
A
A
A
T
G
A
G
A
T
A
28500
A
A
A
T
A
G
G
A
G
A
A
G
T
T
C
C
T
G
G
C
T
T
A
A
C
C
T
G
T
T
C
T
T
A
C
A
T
A
T
T
A
A
A
G
A
A
A
A
G
T
28550
T
A
C
T
T
A
C
T
G
T
A
T
T
T
A
T
G
A
A
A
T
A
C
T
C
A
G
C
T
T
A
G
G
C
A
T
T
T
T
T
A
C
T
T
T
A
A
C
C
C
28600
C
T
A
A
A
T
T
G
A
T
T
T
T
G
T
A
A
A
T
G
C
C
A
C
A
A
A
T
G
C
A
T
A
G
A
A
T
T
G
T
T
A
C
C
A
A
C
C
T
C
28650 |
var(28621):[A:0.07]
C
A
A
A
G
G
G
C
T
C
T
T
T
A
A
A
A
T
C
A
T
A
T
T
T
T
T
T
A
T
T
C
A
T
T
T
G
A
G
G
A
T
G
T
C
T
T
A
T
A
28700
A
A
G
A
C
T
G
A
A
G
G
C
A
A
A
G
G
T
C
A
G
A
T
T
G
C
T
T
A
C
G
G
G
T
G
T
T
A
T
T
T
T
T
A
T
A
A
G
T
T
28750 |
var(28723):[A:0.40]
G
T
T
G
A
A
T
T
C
C
T
T
A
A
T
T
T
A
A
A
A
A
A
G
C
T
C
A
T
T
A
T
T
T
T
T
T
G
C
A
C
A
C
T
C
A
C
A
A
T
28800
A
T
T
C
T
C
T
C
T
C
A
G
A
A
A
T
C
A
A
T
G
G
C
A
T
T
T
G
A
A
C
C
A
C
C
A
A
A
A
A
G
A
A
A
T
A
A
A
G
G
28850 |
REPEAT
G
C
T
G
A
G
T
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
G
A
G
C
C
C
A
G
28900 |
var(28859):[C:0.03]
G
C
G
G
G
C
A
G
A
T
T
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
G
C
A
T
G
28950
G
T
G
A
A
A
C
C
C
T
G
T
A
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
T
29000
G
G
G
T
G
C
C
T
G
T
A
G
T
T
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
A
A
A
T
G
A
C
T
T
29050 |
var(29023):[C:0.20]
G
A
G
C
C
C
A
G
G
A
G
G
A
G
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
A
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
C
29100
C
A
A
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
T
G
A
A
A
C
T
G
T
G
T
C
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
29150 |
var(29110):[C:0.34]
A
A
A
C
A
A
A
A
A
C
A
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
GGT
29200 |
var(29166):[:0.26]
|
var(29176):[:0.68]
AAGGATTCCC CTGTTTTCCT CTCTTTAATT TTAAAGTTAT CAGTTCCGTA
29250
AAGTCTCTGT AACCAAACAT ACTGAAGACA GCAACAGAAG TCACGTTCAG
29300
GGAC
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
A
T
G
G
A
G
G
T
A
A
A
A
G
29350 |
REPEAT
G
A
T
C
T
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
T
T
G
G
G
C
A
A
C
A
T
A
G
C
A
A
G
A
C
29400
T
C
C
A
T
C
T
C
T
T
A
A
A
A
A
A
T
A
A
A
A
A
T
A
G
T
A
A
C
A
T
T
A
G
C
C
A
G
G
T
G
T
A
G
C
A
G
C
A
C
29450
A
C
A
T
C
T
G
C
A
G
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
T
G
G
A
A
A
G
A
T
C
G
C
T
T
G
T
G
C
A
29500
C
A
G
A
A
G
T
T
C
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
A
T
G
A
T
C
A
T
G
T
C
A
C
T
G
C
A
C
T
C
C
A
G
29550
C
C
T
G
T
G
T
G
A
C
C
G
A
G
C
A
A
G
A
C
C
C
T
A
T
C
T
C
A
A
A
A
A
A
A
T
T
AAT TAATTAATTA
29600 |
var(29561):[T:0.10]
|
var(29583):[T:0.12]
|
var(29584):[:0.75]
ATTAATTAAT TAATTTAAAA AGGAAGTCAT GTTCATTTAC TTTCCACTTC
29650
AGTGTGTATC GTGTAGTATT TTGGAGGTTG GAAAGTGAAA CGTAGGAATC
29700
CTGAAGATTT TTTCCACTTC TAGTTTGCAG TGCTCAGTGC ACAATATACA
29750
TTTTGCTGAA TGAATAAACA GAAATAGGGA AGTAAACCTA CAAATATTTT
29800
AGGGAGAAGC TCACTTCTTC CTTTTCTCAG GAAACCAAGC AAGCAAACAT
29850
ATCGTTCCAA TTTTAAA
A
CC CAGTGACCAA AGCCTTTGGA ACTATGAATT
29900 |
var(29868):[G:0.02]
TGCAACTGTC ATAGGTTTAT GGATATTGCT GTGGAGAAGC TCAATTTTCA
29950
GTGTTTGAAC TGAACCCTTT CTTGTTAGGG AACGTGTGAA AGAAGAATTG
30000
TGGGGAAAAA AAAGCAAGCA TAACCAAAGA TCATCAGCAG TGAAGAATCT
30050
AGGCTGTGGC TGAGAGAACC AGAGGCCTCT A
A
A
A
T
G
G
A
C
C
C
G
A
G
T
C
G
A
T
C
30100 |
NOT SCANNED
T
T
C
A
G
A
A
C
A
G
G
G
A
T
C
T
A
C
C
A
T
G
C
A
G
G
A
G
C
T
T
C
T
T
G
T
G
C
T
C
A
C
A
C
A
A
A
T
C
T
30150
G
T
A
A
A
T
G
G
G
A
A
C
A
T
T
G
T
A
C
A
T
T
G
T
C
G
A
A
T
T
T
A
A
A
T
G
A
T
A
T
T
A
A
T
T
T
T
C
T
C
30200
A
A
G
C
T
A
T
T
T
T
T
G
T
T
A
C
T
A
T
T
T
T
C
C
T
A
A
A
A
T
T
G
A
A
T
A
T
T
T
G
C
A
G
G
G
A
G
C
A
C
30250
T
T
A
T
A
C
T
T
T
T
T
C
C
T
A
A
T
G
T
C
T
G
T
A
T
A
A
C
A
A
A
T
T
T
C
T
A
T
G
C
A
A
G
T
A
C
A
T
G
A
30300
A
T
A
A
A
T
T
A
T
G
C
T
C
A
C
A
G
C
T
C
A
G
T
T
T
T
G
T
A
T
A
A
T
G
T
G
C
C
A
T
T
T
A
T
A
G
C
C
A
T
30350
C
A
T
G
T
A
T
A
T
G
A
A
C
A
A
T
C
A
C
A
G
G
C
A
T
A
A
G
T
A
G
G
T
A
T
C
G
C
T
T
A
T
G
T
T
G
C
A
C
G
30400
T
G
C
T
A
G
A
A
T
C
C
T
T
A
T
T
C
C
T
T
T
C
T
T
A
C
A
C
T
T
G
G
T
A
A
T
A
G
C
A
C
C
A
G
A
T
G
T
A
T
30450
A
G
T
T
G
A
G
T
A
A
A
C
C
C
T
T
T
T
C
A
A
T
T
T
C
A
G
A
T
T
G
G
C
A
G
G
C
C
C
A
T
C
C
C
C
T
T
G
G
G
30500
T
A
T
C
C
T
C
T
C
A
A
C
T
A
T
C
C
A
T
T
A
T
T
C
T
T
T
C
A
A
C
T
C
C
T
G
G
A
T
G
A
G
A
A
T
G
A
A
T
A
30550
A
C
T
G
A
G
G
A
C
A
G
T
T
G
T
T
C
A
G
G
A
C
A
T
G
C
T
C
C
T
A
A
C
A
C
T
T
T
G
A
G
A
T
C
A
A
T
A
T
C
30600
C
C
A
A
G
A
G
C
C
A
C
T
T
C
T
A
T
G
C
A
T
T
C
C
C
A
G
A
C
A
G
G
C
C
C
T
G
G
G
C
A
C
C
A
C
C
A
T
C
A
30650
G
G
G
C
T
G
A
C
C
C
T
G
G
G
C
C
A
C
A
G
C
A
T
G
C
C
T
C
A
G
G
G
G
T
C
A
G
C
T
C
T
C
T
A
G
G
A
C
C
A
30700
G
C
C
A
C
T
T
G
T
C
A
G
A
A
T
G
T
T
A
T
C
C
C
C
T
G
A
G
G
C
T
G
A
A
G
C
C
A
C
A
G
C
C
A
T
G
C
T
T
G
30750
T
C
T
C
T
T
C
C
A
C
A
G
A
A
G
C
A
C
T
T
C
T
C
T
T
C
C
A
C
A
C
C
C
T
T
T
C
A
C
C
A
C
A
G
T
T
G
G
C
A
30800
G
A
T
T
T
G
A
A
A
G
A
A
A
A
T
A
T
G
G
T
A
A
G
A
T
G
A
G
A
A
A
T
T
T
A
C
T
T
C
A
A
C
A
A
G
T
T
T
G
A
30850
A
T
G
A
T
A
A
G
T
T
T
C
A
A
A
G
C
A
G
C
C
C
T
A
A
A
A
G
G
A
A
A
C
T
A
A
A
G
A
A
G
C
C
A
T
A
G
T
G
G
30900
G
G
T
C
T
C
C
C
T
A
T
T
G
A
A
G
T
G
C
C
C
T
C
T
G
T
C
A
T
A
A
C
A
A
A
A
C
T
T
C
T
C
C
T
A
C
C
T
A
T
30950
G
G
T
T
T
C
A
A
G
G
T
A
A
A
T
T
C
A
A
A
T
A
A
A
T
T
C
T
C
C
A
G
A
G
G
G
A
T
C
T
G
G
G
C
A
T
T
C
T
A
31000
T
G
T
C
T
T
C
T
T
T
T
A
T
C
T
G
G
G
G
T
A
G
A
A
A
C
G
A
C
A
G
G
T
T
G
T
G
A
G
G
C
T
C
T
T
A
T
G
C
T
31050
A
A
G
G
A
C
A
C
T
C
T
A
T
A
C
C
T
T
T
A
G
G
A
G
C
T
A
A
A
G
G
G
G
C
C
A
A
C
T
T
G
C
C
T
G
T
T
A
C
C
31100
C
A
T
G
A
T
A
C
A
G
G
A
T
T
A
G
C
A
C
G
G
A
A
T
A
T
G
T
C
A
A