TF 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
TCTAGGTGTG TGTAGATGAC GTGGGAGCAC CAGTTCTCTA TGTCTTGTCT
50
GAGCTTCCTT CATATCCCAT GAGGCTGTAT ATTTCCTTCC CAGCACCTGT
100
CTTGGGCTTG GACTCAAAGG ACCCTTCTGA GGACAGGGCA TAGAGCTGGC
150
TGCTCTGGAG AGGACTCAGC CTGGCCAGTA GGTAGTTGCT CCCTGCTGAG
200
GGGCTCTGGC TAGGCTATGG GCCTGTGGCT GGAGGACTGG CCTCAGCGGG
250
GCTTAGTCTA CGAATGTAGA TGGGCTCCAG AAAAGGAGAA TCACTGACCA
300
TCTTCTTTCC ATGCCCTGCG TTGAGCTTCC CTGAGTTTGT GGCATGGGCT
350
CAACCTT
T
CG TAACTGCACT TCCTGCTCTC TGGCAGACCC TGCAAGCTTA
400 |
var(358):[C:0.48]
CTACAGGGCC TGTCCATGCA TCAGCTGTAT GTGT
G
CATGC TGCTCTGCTG
450 |
var(435):[A:0.41]
GGTGCCTTCC AGTTAGCCTT GCCCCTGACT TTTCCTGCTC ATCTCACATC
500
CTTACCTCAA GGTCTCCAAA TGAATCCAGA CCACTGCCTA GAGCCTGCTG
550
CAGGGGCAGT AGGAATATGG CCCTCATGCT AACAGTCTTC TTTCCCTATG
600
GCTCAAGCAC AAGGGGCCC
A
TGGACGGGCA AGGGGGGAGT AAGACAGGGC
650 |
var(620):[G:0.34]
AGCAGTGGTC ACTCTCCCTC GCTGGTGA
G
G CTGATGTGTT GGGAAAGCCA
700 |
var(679):[A:0.02]
GACTTGACTT CTGTCCTCAC TGTAAACAGA AAGCTTCTGT
A
G
T
G
G
A
C
T
C
T
750 |
REPEAT
A
A
A
G
T
G
G
G
A
G
G
T
A
T
G
T
A
A
C
C
C
C
T
T
T
G
C
A
T
A
T
G
A
G
A
T
A
A
T
C
T
T
T
T
G
G
A
G
T
G
800
T
G
G
G
A
G
A
A
C
A
T
A
A
T
C
T
A
A
C
T
T
C
C
A
G
T
T
A
T
A
T
T
T
A
T
T
G
T
T
A
T
T
G
C
A
A
A
A
G
A
850
T
T
A
A
C
A
A
A
T
T
A
T
C
A
T
T
C
A
T
T
C
A
T
A
T
T
G
A
A
T
G
T
G
T
G
A
A
T
T
G
G
C
C
C
T
A
T
C
T
C
900
C
C
A
C
C
T
G
A
G
T
C
T
G
C
A
G
T
C
A
T
G
A
C
A
G
A
T
G
G
A
G
C
C
T
T
T
C
A
G
G
T
G
T
C
C
T
A
A
G
G
950
G
A
A
G
A
T
G
G
G
G
T
T
C
A
C
C
T
C
A
C
A
A
T
G
C
T
A
A
A
G
G
T
G
A
A
A
A
G
G
G
G
A
G
T
G
C
C
G
A
C
1000 |
var(961):[A:0.16]
C
C
T
G
C
C
C
T
T
T
G
T
T
T
T
G
G
C
A
T
T
T
T
T
A
T
T
T
C
C
A
T
A
C
T
T
T
G
T
G
G
T
T
T
G
T
A
T
G
T
1050
G
C
C
C
A
G
T
T
A
A
A
C
G
G
A
T
G
T
A
C
A
G
A
T
T
A
G
A
T
A
A
T
C
T
G
G
C
T
T
T
A
A
C
T
C
C
A
A
C
C
1100
T
T
C
A
C
G
A
G
A
T
G
C
A
C
A
C
A
T
G
C
C
T
T
A
A
A
A
A
G
A
T
T
C
T
T
A
C
A
A
A
G
A
A
A
C
T
A
G
A
A
1150 |
var(1105):[T:0.01]
T
T
A
G
G
A
G
A
C
A
A
T
T
C
T
G
A
C
A
A
C
A
C
A
A
A
A
A
C
A
A
G
T
G
A
A
C
A
A
A
A
A
T
C
A
A
A
T
G
A
1200
C
T
G
A
C
C
T
G
A
C
G
T
G
T
C
C
A
C
T
A
G
G
C
T
T
G
A
T
A
T
G
A
G
C
T
T
G
G
T
C
A
A
C
T
A
A
A
A
C
A
1250
T
G
A
G
A
C
A
G
A
A
T
G
A
A
T
G
A
C
C
A
T
C
T
G
G
T
C
A
G
G
T
T
G
G
A
T
A
A
G
A
A
G
T
A
A
C
T
T
T
T
1300 |
var(1265):[G:0.01]
G
G
C
A
A
A
A
T
C
T
C
T
G
A
A
G
T
C
T
G
G
A
T
T
T
A
C
A
C
T
T
C
G
T
G
G
A
A
G
G
A
A
T
C
T
T
G
A
C
C
1350
T
T
T
C
C
C
C
A
A
G
T
A
T
A
T
T
A
T
G
C
C
T
T
G
A
G
A
T
A
A
T
A
A
T
C
C
T
G
T
A
T
A
A
G
G
C
C
G
C
A
1400 |
var(1355):[A:0.01]
T
A
A
G
C
A
A
A
A
C
G
A
C
A
T
T
T
G
A
A
A
A
T
G
A
G
T
T
T
C
A
T
C
T
T
T
A
G
C
T
C
A
T
C
C
T
T
T
T
A
1450 |
REPEAT
C
A
A
A
T
T
T
C
T
A
T
T
C
C
T
T
G
T
G
C
A
T
G
A
T
T
G
A
A
G
T
G
T
A
C
A
C
A
T
T
T
T
T
T
A
G
T
T
A
A
1500 |
var(1477):[A:0.06]
A
A
T
A
T
A
A
G
C
A
T
A
T
A
GAAGGC ACAAGTTCAA TATTTTTCAT GATAAGGATG
1550
TGTAATTAAA CTGGTTAGGA GACTCATCGA CTAGAGGGGG ACATGGTGGC
1600
CCCAGGCTGT AAGAACAGGC CAC
A
CCGTCC ACTGGGCCGC TTGCTTTGTG
1650 |
var(1624):[G:0.05]
CTAAGATG
A
C ACTTTGTTCT GAGCCTCACA GTGTCTTGAC CATGTTCCTG
1700 |
var(1659):[G:0.15]
GAACCTTCTT GTTGGAGGGA GTTCATCTTC CCCTATGACT CTGTCCCTAG
1750
TCTAAGGTGT CCCACAGGAA GCTTGAGGGC
G
GGAAGTTTT CCAGCCCAGG
1800 |
var(1781):[A:0.07]
AGCCTGAGCT CAGCGGGGCA GGAAGAGGGA GCAGCTCCTC CGTGGG
G
GAC
1850 |
var(1847):[A:0.49]
CTTTGAGAGC CCAGGAGCAG GATTTCGAGG GACACCTGGT GGGGAGCAAA
1900
AGGTGCTGAG TCTGTCTTTG ACCTTGAGCC CAGCTTGTTT CTCCTGCATC
1950
CTCCCC
C
AAA AGGGGCTTTG CCTGTCATTC TGCAGTTCTA GTGTGGGGTC
2000 |
var(1957):[A:0.01]
TGGGCGCAGT TCTTTTCCCT CTCCAGCCTC GGAGTCTTCC TCTGTGGACT
2050
GCGCAGATAG GACTGGTGGC ACGGA
C
CAGC TCTGCAGCCC TGGAGTCAGG
2100 |
var(2076):[G:0.02]
AGCAGAGCCC CCCGGCTCCC AGCCCGCCGT AGCCGCTCCT GGCACCGAGC
2150
GAGCCGCGAT GACAATGGCT GCATTGTGCT TCATGTCCCT TCCCATCAAC
2200
ATTTCTGTGC TGGACTCCTT CCACTCGCGG GTCGTCTCCA GAGCTCAGAA
2250
AATGAGGTGA TCAGTGGGAC GAGTAAGGAA GGGGGGTTGG GAGAGGGGCG
2300
ATTGGGCAAC CCGGCTGCAC AAACACGGGA GGTCAAAGAT TGCGCCCAGC
2350
CCGCCCAGGC CGG
G
AATGGA ATAAAGGGAC GCGGGGCGCC GGAGGCT
G
C
A
2400 |
var(2364):[T:0.07]
| Exon 1 |
UTR
C
A
G
A
A
G
C
G
A
G
T
C
C
G
A
C
T
G
T
G
C
T
C
G
C
T
G
C
T
C
A
G
C
G
C
C
G
C
A
C
C
C
G
G
A
G
G
A
T
G
2450 |
var(2446):[A:0.36]
M 1
A
G
G
C
T
C
G
C
C
G
T
G
G
G
A
G
C
C
C
T
G
C
T
G
G
T
C
T
G
C
G
C
C
G
T
C
C
T
G
G
GTGAGTGCGG
2500
R L A V G A L L V C A V L 14
GCACGGGGTA GCACC
G
CAGA GTCGCTGGCC CGCGCGTTCC CTGCAACCCG
2550 |
var(2516):[T:0.02]
GGCGGCCACC GCGCAGCCTG CATGCACTCC GCGCTCAGGC TGGAAGCCTG
2600
GGTGTCTGGG TGCCTTTCCA TTGCCTCTCT ACGCCCCACC CCTGGCCTTT
2650
GCTTGGGCTT CTAGACACCT TTCACTGCAC TCACTGTCTT CTCCCCCTCC
2700
TCCTCTTTGT CCAGTAAATC TTGCAGCAGT GAAATACAAT AAATCAGAGC
2750
ACGTCTAACC AGGTTATCAA AACCCTTTGC TGCTGCCTCT TGTCAAGTCC
2800
GAACTCCTTA GCATGGCATT CAAGGCCTCC CGGGTCTGAC CATTCCCCTT
2850
TCAGAGGCTG A
T
GTCCCCTG GGTGCCCTGG GAGCTGTAGA TGTCCTGCCA
2900 |
var(2862):[C:0.46]
AGGAAGCGGT GCCATCG
A
G
C
G
G
T
C
A
G
A
G
C
A
T
G
G
G
G
T
T
T
G
A
A
G
C
C
A
G
A
C
T
T
2950 |
REPEAT
C
T
T
G
G
A
T
C
C
A
A
G
T
C
C
T
G
G
C
C
G
G
C
T
C
C
T
C
A
C
C
A
G
GGAGGGG GTCATCACAG
3000
CACTTGCCTG GGAGGGTCAA ATGAGGGTCA GCGAGGTGGC AGATGCTGAG
3050
TACCAGTGGC AGATGTTGCA CACATCCTGC TATGGGGCAG TGGCTGACGC
3100
CACACTCCCC GACCTCCTGA GGTGGGGCCC CCTTCATACT CTAACTTCTG
3150
CCTGCCATTC ATGGGGCATT TGTCACACTG TTGGGGCTTC CACGTTTAGT
3200
TTTCTCTCCC CATAAGCTAG CAATTCCTTG AGAGAGGACC CCACGTTACT
3250
TGCCTTTATC CCCGCACAGA GCACTTCACA GGCTGTGCAA GGTAATGCTC
3300
CACTGAGGAC ACATTCT
C
GC CTATGGGAAC TCTGGAGGCA GGGCTTTGTG
3350 |
var(3318):[T:0.03]
GAGGGGCTGC CACAGGCTTA TGTTGCCTCC TAGG
A
TTTCC CATGGGCCAA
3400 |
var(3385):[G:0.06]
GAGGGAAAAT GGGGGTC
G
CT GGGGTGGCCA TCCCTGGTGG CCCCTCCTCA
3450 |
var(3418):[A:0.01]
TGCATCCTGG AGAGCTGTGG GCCTCCTCTC CACAGGCTTT GTGGATCTTC
3500
TTCAGAGCCA GTGAGTCAGC CTTGCTGTGG TGGCCCACAA GGAGTGGAGA
3550
TGACAGAGGG CCTTGGGGAC AGGGCAAAAG CTCATGTGAT AGGGATGCTG
3600
TCTCTGCAAC CACATGGAT
T
TTAATAGTTA CCCATGGCTG GCTTCAGCTT
3650 |
var(3620):[A:0.06]
TTTTTGTGAA TGGCAGCCAA
A
A
A
G
T
G
T
G
G
T
G
A
A
A
A
T
G
G
A
G
G
G
A
T
A
G
T
T
C
A
3700 |
NOT SCANNED
G
T
G
G
A
G
A
C
A
G
A
G
G
G
G
A
G
A
C
T
G
T
T
G
A
A
T
T
T
G
T
G
G
A
G
T
T
T
T
T
A
G
T
T
C
T
T
C
C
T
3750
A
A
A
C
A
G
A
G
A
G
C
A
A
C
A
G
A
C
A
A
G
A
G
T
T
A
C
A
G
A
C
A
A
A
T
T
A
A
T
T
C
T
T
T
T
C
G
T
T
A
3800
A
T
T
T
A
C
C
C
T
C
A
A
C
T
A
C
T
G
G
C
C
A
A
G
A
A
G
G
G
G
T
G
T
A
A
C
T
C
A
G
A
A
T
G
T
T
T
T
C
T
3850
T
C
T
T
T
T
G
T
G
C
C
C
T
G
A
G
T
A
G
C
A
G
A
C
C
C
A
G
A
G
T
C
T
G
G
A
G
A
C
C
C
A
G
A
T
T
C
T
A
G
3900 |
REPEAT
G
C
C
T
G
G
C
T
T
G
G
C
C
A
A
C
G
A
C
A
A
G
C
A
G
G
G
T
G
A
C
C
T
T
G
G
G
T
T
A
A
A
A
A
A
A
A
A
A
A
3950
A
A
G
G
C
A
T
C
A
T
T
C
T
C
T
G
A
G
T
C
T
C
A
C
T
C
C
C
T
C
T
T
C
T
C
A
A
A
A
A
G
A
T
G
G
C
A
A
T
T
4000
C
C
T
C
C
C
C
C
G
C
T
G
G
T
T
T
T
C
C
A
T
A
G
T
T
G
A
G
G
T
A
G
C
A
A
G
C
C
A
A
T
G
T
G
T
T
G
G
G
G
4050
T
A
G
C
T
G
A
A
A
A
C
G
C
C
C
T
G
T
G
C
A
T
A
C
T
G
A
G
G
C
T
T
A
T
G
T
T
C
C
A
T
G
G
G
G
G
G
C
C
A
4100
G
G
G
G
C
C
A
G
G
A
C
A
G
T
G
A
T
G
G
G
A
G
G
A
G
A
C
A
A
G
G
C
GGATACAG AGGAGCAGAT
4150
TGTCATCTCC AGCTGGGAGG TGATGGCCAT GCCTGCACCC CTCTGGCCAG
4200
CAGAGGGTGG TCAGTAGGAA ACTGGGAGGC CATTAGGGCA ACCTTCTATT
4250
GGCTCAGACT CAGAATGCAG TAGAACTTGT GCCCTGTAGT GTTCATGGAC
4300
AGGAGTGAGA GGAGGACAGG ACTGAGGGGA TGTGGCTGTC AAGGCCTTTC
4350
TAGGGGCGAT GCTGTCTCTC CCTCAGCATA GGGAGTGGGC CCTTCCACCT
4400
CTGGCCTCTC TCCCCCAG
G
G
C
T
G
T
G
T
C
T
G
G
C
T
G
T
C
C
C
T
G
A
T
A
A
A
A
C
T
G
T
G
4450 | Exon 2
G L C L A V P D K T V 25
A
G
A
T
G
G
T
G
T
G
C
A
G
T
G
T
C
G
G
A
G
C
A
T
G
A
G
G
C
C
A
C
T
A
A
G
T
G
C
C
A
G
A
G
T
T
T
C
C
G
4500
R W C A V S E H E A T K C Q S F R 42
C
G
A
C
C
A
T
A
T
G
A
A
A
A
G
C
G
T
C
A
T
T
C
C
A
T
C
C
G
A
T
G
G
T
C
C
C
A
G
T
G
T
T
G
C
T
T
G
T
G
4550 |
var(4540):[A:0.01]
D H M K S V I P S D G P S V A C 58
T
G
A
A
G
A
A
A
G
C
C
T
C
C
T
A
C
C
T
T
G
A
T
T
G
C
A
T
C
A
G
G
G
C
C
A
T
T
G
C
G
GTAAGTCGC
4600
V K K A S Y L D C I R A I A 72
TGCTGCCTAA AAGAGAGTGG AAGAAAGCCA TACTTTCTCT GTTTCCAGTC
4650
ACTTTGGAAC AATTCTTTAC TCACAGGTA
G
GAGGCTGATA TATGGGGCAG
4700 |
var(4680):[A:0.01]
TCAACCTTGA CTTACTAAAA TCACTTCAAA AGTGGAAATG GGGAGGTTTT
4750
CTTTAATGTG TCTGGAAAGC AAAAGTCAAA AAGCACATTA ACTTTTGCTT
4800
TCCAGACACA GTAGACGCAA GGGTGACTGT TTTGAGACCC TAGGTTCTCT
4850
GAACTTGG
C
G AAAATATAAG AATGCCTGCT ATCA
G
G
C
T
G
G
G
C
G
C
G
G
T
G
G
C
4900 |
var(4859):[T:0.09]
|
REPEAT
T
C
A
T
G
C
C
T
G
A
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
C
T
4950
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
G
A
A
A
C
C
C
C
A
T
C
T
C
5000
T
A
C
T
A
A
A
A
A
A
T
A
T
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
G
T
A
A
T
C
5050
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
G
G
G
G
A
G
G
C
A
5100
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
C
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
G
T
G
A
C
A
5150
G
A
G
T
G
A
G
G
C
T
C
C
A
T
C
T
C
A
A
A
A
T
A
A
G
T
A
A
A
T
A
A
A
T
A
A
G
A
A
T GCCCACTATC
5200 |
var(5175):[A:0.44]
AAAATTATTA TATAACCTTC TTTGGCAGCT TTTGATACAC AACTGGGAAG
5250
ATGAGTGATG CATGCAGGGG GAAGAGTAAA GTGTCCTGAT TGCAGGTGAC
5300
A
G
CTGATCTT TTTGTTCTTA GGTCTACAAA AATGCTC
T
T
C
A
T
T
C
T
T
T
C
A
A
5350 |
var(5302):[A:0.06]
|
REPEAT
C
G
T
T
G
C
C
C
C
T
G
C
C
C
A
T
C
T
G
T
A
C
A
T
G
T
C
A
G
A
T
C
C
T
G
T
G
C
T
G
G
G
C
A
A
T
G
G
G
G
5400
C
T
G
C
A
G
T
G
G
T
G
A
A
T
T
A
A
A
C
A
C
A
T
T
G
G
T
C
C
T
T
A
C
C
C
T
C
A
G
G
G
A
G
C
T
C
A
T
G
G
5450
G
C
T
A
G
T
C
A
G
G
A
G
A
G
C
A
G
A
A
A
A
A
C
A
C
A
C
G
A
A
T
A
A
G
T
A
A
A
C
T
A
C
T
A
A
T
T
C
C
A
5500
A
A
A
T
G
T
G
G
G
G
A
T
G
T
A
C
A
A
T
G
G
A
G
G
G
A
A
A
A
A
G
G
A
G
A
G
T
G
T
T
C
T
G
A
C
A
G
G
G
A
5550
C
T
C
A
C
A
G
A
A
A
A
A
C
C
T
G
C
T
T
T
G
T
C
C
T
G
G
G
T
G
G
T
C
A
G
A
G
A
C
C
A
T
C
T
C
T
C
T
G
A
5600 |
var(5588):[G:0.38]
G
A
G
A
G
A
T
G
T
A
A
T
G
A
A
G
G
A
C
T
G
A
G
C
C
T
G
G
G
T
G
G
G
C
T
C
C
A
G
T
G
T
A
A
A
A
T
A
C
A
5650
C
C
A
G
G
C
A
G
C
A
A
A
C
A
A
G
A
G
C
A
T
A
T
G
C
A
A
A
G
G
G
C
C
T
G
A
G
G
C
A
G
A
G
C
A
G
A
G
T
G
5700
G
G
C
T
T
A
T
T
T
A
A
G
T
T
G
C
T
A
G
T
G
G
G
A
G
G
C
C
A
G
G
G
T
G
A
T
G
G
G
A
G
C
T
G
T
C
A
A
A
G
5750 |
REPEAT
A
T
A
A
G
C
A
C
A
G
C
C
A
G
A
T
A
T
T
A
G
T
T
T
A
G
G
C
A
G
T
G
A
C
A
A
T
A
G
G
T
T
T
C
A
T
T
C
A
G
5800
T
A
A
C
T
G
C
T
G
A
C
A
G
T
G
G
G
G
G
A
A
A
G
A
G
C
T
A
G
G
C
T
C
C
A
T
T
C
T
G
A
T
T
T
G
T
G
C
A
G
5850
T
G
G
T
G
A
T
G
T
G
A
G
C
A
T
T
T
T
A
A
A
G
G
G
A
G
A
A
T
G
A
G
G
G
A
G
G
G
G
A
G
A
A
C
G
C
A
G
G
G
5900 |
var(5900):[A:0.01]
C
T
C
T
G
T
A
G
A
G
T
C
A
G
A
G
A
A
G
T
A
A
A
A
A
G
G
T
A
G
A
A
A
G
G
G
C
T
G
G
T
C
A
G
T
G
T
A
A
A
5950
T
G
T
G
A
G
G
A
G
G
C
C
A
G
C
T
G
T
G
T
C
T
G
A
T
A
G
C
T
G
G
C
A
G
T
T
C
T
C
T
C
G
A
T
T
A
G
G
A
C
6000 |
var(5992):[T:0.07]
T
C
T
A
T
T
C
T
C
C
C
G
C
A
G
A
G
A
C
T
G
C
G
A
G
A
C
A
G
A
C
A
C
T
C
T
A
T
C
C
A
T
C
C
T
G
A
T
G
A
6050 |
var(6012):[A:0.01]
T
T
G
T
G
T
T
G
C
A
A
A
G
G
A
A
T
G
G
C
T
C
T
C
A
G
T
C
C
T
T
G
A
G
A
G
A
G
A
T
G
C
T
T
G
T
G
A
G
T
6100
T
T
C
A
A
G
A
G
A
T
A
C
A
T
A
T
T
C
A
C
A
G
T
T
T
T
A
A
G
T
C
C
T
T
T
T
T
A
G
T
A
A
A
T
T
C
T
C
T
T
6150
G
G
A
A
A
G
G
G
A
G
G
T
C
A
G
G
G
G
C
C
T
A
T
C
A
T
C
A
G
T
T
G
T
G
T
G
T
T
G
A
G
T
A
G
A
A
G
A
A
A
6200
C
A
G
G
T
A
C
A
T
T
T
T
C
C
T
G
G
C
A
G
C
A
C
T
G
A
G
T
T
T
T
C
T
C
A
G
G
C
A
A
G
C
A
C
T
T
T
A
A
G
6250
G
G
G
A
A
C
C
G
G
G
C
C
A
T
C
C
T
A
G
G
G
A
C
A
C
A
G
A
T
T
T
G
T
T
C
T
G
C
T
A
G
G
A
G
C
C
A
T
G
C
6300
C
A
G
A
G
T
C
T
G
G
T
C
A
G
G
T
C
T
C
T
T
A
G
T
G
C
A
G
A
G
G
T
T
T
G
G
A
C
A
G
A
T
G
T
G
T
C
A
A
G
6350
T
G
T
G
G
G
A
A
A
T
T
C
T
A
C
A
G
T
T
C
T
C
A
G
C
A
C
A
A
A
G
C
A
A
G
C
A
G
T
A
G
G
T
T
A
G
C
C
G
A
6400 |
REPEAT
A
G
G
G
A
A
A
A
G
G
T
G
G
A
A
G
A
AAC ATCCAGATGC AGCCTGGCTT CCCTCAATCC
6450
CCGCGCTGGG GTTTTCC
T
C
C
T
C
T
A
C
C
C
GTG TCTTTCTGCT GGCTTCCCCT
6500 |
var(6468):[:0.21]
TGGCTTCCCT CCAGCCTTCT CTCTGTAGCT TTCCCTCTTC TGGGTTTGGT
6550
TATTTTGACT TGTGAGAGCT TGCTTGATTA TAATCCTGTC CCTCCCAGCT
6600
GGC
G
CAGGTT CCCCTGGGAA CCCTGCAGCT CTAGGGCTGG ACGCTGTGTT
6650 |
var(6604):[A:0.06]
TTAGGCCTTA GCTCTTTGGC TCCCTGAGCC CC
C
GAGGCAC CAGTGATTTC
6700 |
var(6683):[T:0.02]
TT
G
GTGTCTT GGCAAAGAAA GACCAGGTTC CTGACCACTC TCCCAACCCC
6750 |
var(6703):[A:0.30]
ACTGCAATGG GCAAAGCTCT CGTTTGTTTG CTTCATTTTT TAAAA
A
A
T
AT
6800 |
var(6796):[T:0.05]
|
var(6798):[A:0.02]
AT
A
TATA
T
T
T
T
A
T
T
A
T
A
C
T
T
T
A
A
G
T
T
C
T
A
G
G
G
T
A
C
A
A
G
T
G
C
A
C
A
A
C
A
T
G
C
6850 |
var(6803):[G:0.01]
|
REPEAT
A
G
G
T
T
T
G
T
T
A
C
A
T
A
T
G
T
A
C
A
C
A
T
G
T
G
C
C
A
T
G
T
T
G
G
T
G
T
G
C
T
G
C
A
C
C
C
TGT
6900
TTGCTTCATT TTTATTCAAC AATGTGAGGA CTGGGGAAGG GAAGGTGTTT
6950
GCAGATTAAA CAAAACCACG AAGTGTGTTT CATATATAAG GTCTAGTTGT
7000
TGTGGAACAG AAAGGCCCAT GATGTCT
G
TT AATTTTGTTT TGTATTGTGG
7050 |
var(7028):[C:0.10]
TATATTAAAA ATATGTTTTA
C
A
A
C
C
C
A
A
A
T
A
T
C
C
A
T
T
G
A
T
G
A
G
T
G
A
A
T
A
G
7100 |
REPEAT
A
T
A
A
A
T
A
A
A
A
T
G
T
G
G
T
A
A
A
C
A
C
A
A
A
T
G
A
T
G
A
A
A
T
A
T
T
T
T
T
A
G
C
C
T
T
A
A
A
A
7150 |
var(7148):[G:0.01]
A
T
A
A
A
T
G
A
A
A
C
T
C
T
G
A
T
A
T
A
T
G
C
T
A
C
A
C
T
G
A
G
A
T
G
A
A
C
C
T
T
G
A
A
A
A
C
A
T
A
7200 |
var(7198):[G:0.07]
A
G
T
G
A
A
G
C
A
A
G
C
T
A
G
A
T
A
C
A
A
A
A
G
G
A
C
A
A
A
T
A
T
T
G
T
A
A
G
A
T
T
C
C
A
C
T
T
T
T
7250 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
7300 |
var(7280):[T:0.30]
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
G
A
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
C
7350 |
var(7312):[T:0.09]
|
var(7319):[A:0.11]
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
T
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
G
C
G
C
7400 |
var(7399):[A:0.04]
C
A
C
C
A
T
G
C
C
C
G
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
G
7450
T
G
T
T
A
G
C
C
A
G
T
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
G
C
C
C
G
T
C
T
C
G
7500 |
var(7461):[G:0.18]
G
C
C
T
C
C
C
A
A
A
G
T
T
C
C
A
C
T
T
T
T
A
T
G
A
A
G
T
A
T
C
T
A
G
A
A
T
A
G
T
C
A
A
A
T
T
T
A
T
A
7550 |
REPEAT
G
A
A
A
C
A
G
A
A
A
G
T
A
G
C
A
T
A
A
T
G
A
C
T
A
C
C
A
G
G
G
G
C
T
G
G
A
G
T
G
G
G
G
G
A
G
A
A
A
T
7600
A
G
G
A
G
G
T
A
A
T
T
G
T
T
T
A
A
T
G
T
G
T
A
A
A
G
A
G
T
T
T
C
A
G
T
T
T
C
T
G
G
A
G
A
T
G
G
A
T
A
7650
G
A
T
G
T
G
A
T
G
G
C
T
A
T
A
A
A
A
C
A
A
C
G
T
G
A
A
T
G
C
A
T
G
T
A
C
T
T
A
A
T
G
C
C
A
C
T
A
A
A
7700
A
T
G
T
A
C
A
C
T
T
G
A
A
A
A
T
G
G
T
T
A
A
A
A
T
T
G
G
C
T
G
G
G
T
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
7750 |
REPEAT
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
7800
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
7850
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
A
T
G
G
C
A
G
G
C
G
C
C
T
T
A
A
T
C
C
C
A
G
C
T
A
7900
C
T
T
G
G
G
A
G
G
C
A
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
T
T
T
G
A
A
C
C
C
T
G
G
A
G
G
C
A
G
A
G
G
T
T
A
7950
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
A
G
C
C
A
T
T
G
C
A
C
T
C
A
A
G
C
C
T
G
A
G
G
G
A
C
A
A
G
A
G
C
G
A
8000
G
A
C
T
G
C
T
G
A
T
A
T
A
G
T
T
T
G
T
C
T
T
A
C
A
A
C
A
T
A
T
T
T
T
A
T
T
T
C
A
T
T
T
A
G
A
A
A
TA
8050 |
REPEAT
CTATTGTCTT ATTACTTGAT TGTAACACAA CAAAGTTCAT GGAACTATAG
8100
CTTTTGCTTT GTAA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
8150 |
REPEAT
C
T
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
T
A
C
A
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
A
T
C
8200
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
T
T
C
C
C
A
A
G
T
G
G
C
T
G
G
T
A
T
T
A
C
8250
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
A
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
G
G
T
A
G
A
8300
G
A
C
A
G
T
G
T
T
T
C
A
C
C
A
T
A
T
T
G
G
C
T
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
A
A
C
C
T
C
A
G
8350
G
T
G
A
T
C
C
A
C
T
T
G
C
C
T
A
G
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
A
A
G
T
A
C
A
A
G
G
T
A
T
G
A
G
8400
C
C
A
C
T
A
T
A
C
C
T
G
G
C
C
TGCTT TGTAATTTGA TCAATAAGAA ATCTTCATAG
8450
AGAACTGGCA AGGGCTTCTG GAAAAATCAT TTTGATTAAA GACATTTAAA
8500
ACAAAAAAGG AGTA
A
AACTA TGTGTTTAAG TGTCTAAATA AAAGATGGTT
8550 |
var(8515):[G:0.01]
GGGCTCACTT TAAGGATTTA CATAAAAAGA AAATAAATTA TAGATCTAGT
8600
AAGAAGGCAG CTATA
A
T
A
TT TCAAGGGACC TGTTGATGTA AAGATGAGGG
8650 |
var(8616):[:0.11]
CTTACAGAAG CACAAAGTCA AAAAGGAACA TAACCTGAAG TAACAGTGTA
8700
ATGATAAGAA A
T
A
A
A
C
C
C
G
G
A
A
T
G
T
C
T
G
C
A
C
T
G
A
A
A
T
C
C
C
A
G
C
T
C
C
A
T
G
A
8750 |
REPEAT
C
T
T
A
C
T
G
G
C
T
A
T
G
T
G
G
C
C
C
A
G
G
G
A
A
G
T
G
A
C
T
T
A
A
C
C
T
T
T
C
T
G
T
G
C
C
T
C
A
T
8800
A
T
T
T
C
T
C
A
C
T
T
G
T
A
A
A
A
T
G
G
A
G
C
T
G
A
G
A
G
A
G
A
A
A
G
A
G
A
G
A
T
G
A
G
C
T
G
C
C
C
8850 |
REPEAT
A
T
G
T
G
T
T
G
G
A
G
T
A
G
A
C
A
A
T
T
A
T
A
C
C
A
G
A
G
A
T
G
A
G
C
A
A
A
A
A
T
G
G
A
A
A
T
A
A
T
8900
A
A
T
C
A
A
G
C
T
T
T
T
G
A
T
C
A
T
T
C
A
G
T
A
C
A
T
A
G
T
A
T
C
A
C
C
A
A
G
A
A
G
C
T
A
A
A
C
C
C
8950
A
G
A
G
A
A
A
G
T
G
C
C
C
A
A
T
C
C
C
T
C
A
G
C
A
A
A
A
G
G
G
T
C
A
T
G
C
A
G
T
T
T
T
A
T
G
G
A
C
C
9000
C
A
G
G
A
C
A
G
G
A
A
G
G
A
A
G
A
G
C
A
T
T
G
A
G
T
A
C
T
G
A
G
T
C
A
G
A
G
T
G
A
A
G
A
C
G
A
A
T
G
9050 |
var(9027):[C:0.01]
T
T
T
T
C
A
A
G
G
T
T
C
C
C
A
T
C
T
T
C
C
C
C
C
A
G
A
A
A
A
A
A
A
A
T
C
T
C
C
A
C
A
G
A
A
G
C
A
C
C
9100
T
G
A
G
G
A
A
G
A
C
C
T
C
A
A
A
G
G
A
A
G
T
C
T
C
A
A
A
A
T
A
A
A
G
A
G
G
G
C
T
C
T
G
A
G
C
A
A
A
G
9150
G
T
C
A
T
G
G
G
C
T
A
G
G
A
A
T
G
A
A
A
A
C
A
G
G
T
G
T
A
A
G
A
A
G
A
G
C
G
T
G
G
C
C
A
G
C
C
C
A
A
9200
G
A
G
A
G
C
T
G
T
G
T
C
C
T
T
G
A
C
A
G
C
A
G
A
G
T
C
C
C
C
T
C
C
A
G
A
G
A
C
T
G
C
A
T
T
G
C
A
C
T
9250 |
var(9210):[C:0.01]
G
G
C
T
G
T
G
C
T
C
T
G
A
G
T
C
T
G
G
G
G
T
G
G
C
G
A
G
G
G
C
G
G
C
T
T
T
C
T
C
C
C
A
C
G
G
A
G
C
C
9300
T
G
C
C
A
G
G
T
T
A
A
G
C
C
T
T
C
G
T
A
A
T
T
G
C
C
T
A
C
G
G
T
A
A
A
G
T
C
A
C
G
T
A
G
G
A
T
T
T
T
9350
T
G
G
C
C
A
G
G
A
G
C
T
G
G
G
C
A
C
C
T
C
A
CCGGGGAA AAGAGAAACA CAATCCATC
A
9400 |
var(9400):[C:0.17]
CTCCCTCTAT GCAGAAGGAA TAGGAATGTG GTGGCTAAGT GCCCTTGCGA
9450
GGGAGACAG
A
G
TCAACTGAA GCCAGCAGGG CTGTGCGTGG TCTAGTCAAG
9500 |
var(9460):[:0.10]
TTCTGGCCCT GGGTCCGTGG AGTCCTGGTA GCCACTCTCT ACTTGTGTGG
9550
GTTGAGGTGG GCCTTCCTTG GAAGTCAAGG CTTCATCCAG GACTGGCCTG
9600
TTCTCTTTCA G
G
C
A
A
A
C
G
A
A
G
C
G
G
A
T
G
C
T
G
T
G
A
C
A
C
T
G
G
A
T
G
C
A
G
G
T
T
T
G
9650 | Exon 3
A N E A D A V T L D A G L 85
G
T
G
T
A
T
G
A
T
G
C
T
T
A
C
C
T
G
G
C
T
C
C
C
A
A
T
A
A
C
C
T
G
A
A
G
C
C
T
G
T
G
G
T
G
G
C
A
G
A
9700
V Y D A Y L A P N N L K P V V A E 102
G
T
T
C
T
A
T
G
G
G
T
C
A
A
A
A
G
A
G
G
GTAAGTTCTC CCTGGGACCC CAGGAAGGAG
9750
F Y G S K E 108
TTGTCATCCT TATTCTATAT GCTGAGTGCT GTGTTTTACA GGCAGGTTTT
9800
GGATATCAGA TATAATGAAC ATTCATCTTT GGAGAGTGAG TAGAGAATGA
9850
GGGGCCCTGT CAGCTGCCAC AGCCACACAT CAAGGCCTCT GGGGGCTTTG
9900
GGCTGGCTGA GGACTGGTGC TCCTAAAACT GAGCCCTGGG CCAGGGG
C
AT
9950 |
var(9948):[G:0.17]
ATGCTTATCA GAGAAACACA GCAGGCTGTG TGCAGCTTGA CCTGAAGGCT
10000
ACTGCGGTCT ACTGATATGT CTAGGGTCCC TGGAGGCCTC TGGAGCCATA
10050
GGTACCACTC ACACAGGAG
G
GGT
C
ACTCTG GAGCACACAC TCAGAGGCCA
10100 |
var(10070):[A:0.17]
|
var(10074):[T:0.01]
GCAGCCCTGC AAGTCTTCTG AGATCAACCT
G
ACTGTCTCT GGGCCTGTGC
10150 |
var(10131):[A:0.04]
CAGGGGACAT GAAATACT
T
T GATGGGCCTC TGTTACCACA GCTCCAGTTT
10200 |
var(10169):[C:0.01]
CCTGGTGGCT GAGGTTGGTA GGTGTAGGCA GACACGCTGC AGGGCCAGGG
10250
GAGGCAAAGC ATTCAGGACA CATGTGC
G
TG TGGCCTTCTT GCCCCTGTTT
10300 |
var(10278):[A:0.03]
GCCTGGAGGG GTAATATTAT AAATATTCCT TCTATGGTCT TCTCTCTCCC
10350
CTGCAACCCT AGGAAGGTTT TCCTGATTC
C
C
C
ACTCCTTA TCGCCCAGTC
10400 |
var(10380):[:0.01]
CAGTAAAAGC ATGGCCTCTC CGCTCCCCTC CCTCCTCAAG AGTC
C
GGTGG
10450 |
var(10445):[T:0.08]
TGATGAGCCA TGTTTCCCTG CACCAGGCTG AGGGCCTT
C
C ATTCACACTG
10500 |
var(10489):[G:0.02]
TGCCTTTGCA G
A
T
C
C
A
C
A
G
A
C
T
T
T
C
T
A
T
T
A
T
G
C
T
G
T
T
G
C
T
G
T
G
G
T
G
A
A
G
A
10550 | Exon 4
D P Q T F Y Y A V A V V K 121
A
G
G
A
T
A
G
T
G
G
C
T
T
C
C
A
G
A
T
G
A
A
C
C
A
G
C
T
T
C
G
A
G
G
C
A
A
G
A
A
G
T
C
C
T
G
C
C
A
C
10600
K D S G F Q M N Q L R G K K S C H 138
A
C
G
G
G
T
C
T
A
G
G
C
A
G
G
T
C
C
G
C
T
G
G
G
T
G
G
A
A
C
A
T
C
C
C
C
A
T
A
G
G
C
T
T
A
C
T
T
T
A
10650
T G L G R S A G W N I P I G L L Y 155
C
T
G
T
G
A
C
T
T
A
C
C
T
G
A
G
C
C
A
C
G
T
A
A
A
C
C
T
C
T
T
G
A
G
A
A
A
G
GT AAGCTGGCAG
10700
C D L P E P R K P L E K 167
GAGTCTGGGT GCCCTCGAGC AGCTGCCTCT GCTCCAGATG CCCACACAGG
10750
CTGCACTAGA CAGTCACCAT CAGCAGACAT GTGGGATGAA CTCAGGT
G
GG
10800 |
var(10798):[T:0.08]
GGAAAGAGGT TAACA
G
ACTT TAAACTGGCA GGTCTGCTGC ACCAGCAGCA
10850 |
var(10816):[A:0.06]
CTTGGGAGGT GGAGCTGAGC TTTTTTCTGC TCTGAGCTTC CAAAACCCCA
10900
GCAGAGGCTG TTCT
G
ATGAG TGAGGAAAGG GCGCAAGGC
T
CGGCAGAGGG
10950 |
var(10915):[C:0.11]
|
var(10940):[A:0.05]
TTTCAGTCTA GGCGATGGTG GTTCTCTTGT CCACTTCTCT GGATTTCTTT
11000
CCTGGA
G
GTT TCTCTGGAGC CCTGCACCTC TCTTAAGCAG TTCTCATGTC
11050 |
var(11007):[T:0.01]
TGGGGCATGG ATCCCAGAGG GGACCTCTCT CTGAGCTGTT CCAGCCTCTG
11100
ACAAAGCAGG GAGAAGG
T
GC TCTGAGAAAG ACCCGAGATA GGCCTTGGTT
11150 |
var(11118):[G:0.08]
AGTGGGAAGC ATAGGCCTGT TTCCT
C
TGAT GGATGGTGGC CAGACAGAGG
11200 |
var(11176):[G:0.33]
TCAACTTGTT CCTATTAGAA ATCCTTGATC TTGATGAGTT AGCATAAGGG
11250
CAAGCTGGGG CTGCATGTGC TGGTTTGGTT TTAGTCCCCT CTGTTCCCTG
11300
ATGGGCCTGG GTGGGGTGA
T
GCCATTGGCT GTGGCCAGCC TCACTCATGC
11350 |
var(11320):[G:0.10]
TCTGTTGTCC ATTTCTCTGT GCTGAGCAG
C
A
G
T
G
G
C
C
A
A
T
T
T
C
T
T
C
T
C
G
G
11400 | Exon 5
A V A N F F S 174
G
C
A
G
C
T
G
T
G
C
C
C
C
T
T
G
T
G
C
G
G
A
T
G
G
G
A
C
G
G
A
C
T
T
C
C
C
C
C
A
G
C
T
G
T
G
T
C
A
A
11450
G S C A P C A D G T D F P Q L C Q 191
C
T
G
T
G
T
C
C
A
G
G
G
T
G
T
G
G
C
T
G
C
T
C
C
A
C
C
C
T
T
A
A
C
C
A
A
T
A
C
T
T
C
G
G
C
T
A
C
T
C
11500 |
var(11459):[G:0.01]
L C P G C G C S T L N Q Y F G Y S 208
G
G
G
A
G
C
C
T
T
C
A
A
GTGAGTGA GATGTCTGCT GCTCCATGGT GGCCAAAGTG
11550 |
var(11501):[A:0.30]
G A F K 212
CCAAATGTCC TCAGGGTGAG AGTTCTTTGC TGGTCCAAAG CCGAGCCCTG
11600
CCTGCCTACA GGGGCATCGA GGTGGCCTAA TCCCCTCCCA GTGAGTCAGA
11650
AGCACAACCT GGGACTCCTA GGCCAAGCCA GCCCATGTTC CCTTTCATCT
11700
GACCCTGACA AGTAGGTCCT TTTCCTGGGG ACCCTTCCTT TCTCCCCAGA
11750
GCCCTCAAGC CTGGTCAGTG TCTCCTCTC
G
GTGGATCGGG CAGAGCCTGA
11800 |
var(11780):[A:0.07]
AAGGACAATC ATGCCTCTAG TGTCTGGGCC CACTGTCCAG GGACTGGCCC
11850
TCTTCCCTCA ATCTCAGCAG TGTTACCTGC TCAGCACACT GCCTGTCTCC
11900
TGCCCCCATC ACCGTCTCTA TCTGGGAAGC TGATTTCTTG CTTTCTCTTT
11950
TTACCTTGAT TATATCCTAA AGTTTTACAA C
C
AGCCAAAG GCACATTTTC
12000 |
var(11982):[A:0.01]
ACCC
T
CAGGA GACACTATAC CATTATCTTC TATTCCAGAA GTTTAAAAGC
12050 |
var(12005):[C:0.32]
TCTTTTCACA TGAAAATATC TTCAGTTGCA TTTTGCTTCT TTGGGTTATG
12100
AGGGCTTTTT ATCTCGTGTG AGCTCATTCC
C
CCATCTCAG CACTACGCTG
12150 |
var(12131):[T:0.08]
GAGGTCTGCA CACCATGGTG TTGCTTCAGC TACGGGGCTG CACCAGG
C
TC
12200 |
var(12198):[T:0.01]
TATCCTAGTG TGAGTGCTGG ACAGTGTGAT CAGACTCTCC AGGTGCAGGA
12250
GAAGGGCCTG CCCTGCAGGA GCCCTGCTGA TGTGTTTCTT TGACCCAG
G
T
12300 | Exon 6
212
G
T
C
T
G
A
A
G
G
A
T
G
G
T
G
C
T
G
G
G
G
A
T
G
T
G
G
C
C
T
T
T
G
T
C
A
A
G
C
A
C
T
C
G
A
C
T
A
T
A
12350
C L K D G A G D V A F V K H S T I 229
T
T
T
G
GTAAGA ATGGGACAAG AATCCACCAG GGCCACTCCA AGTAGTGGGT
12400
F 230
GTTCTTTTTC TGTGTTCCCT TTTTCATGCT CAGTAATTGG AAATGAGCAT
12450
ACTGTATTTC TCCTTTATCA TTGCCTGGGT TTCCACCTGT GCAGAGTTAG
12500
GTACCTACGG GGTCCCCATC TGGATTCCTG GGCCTCTTTC CATCATTCAA
12550
TCTCTCCACA CGGTGCCTCT GCCTCTGGGG TAGTGTTGCC ATAACCAAAG
12600
ACTGGGG
G
TT GGTGCTGCTA AGATCAGGCT CATGGTGGAA TGAGGAGCAA
12650 |
var(12608):[A:0.05]
TCACTGCTAC ATGGGCATCA GAAGCCTTTA CCTGGCTGTG GGCTCTTGAG
12700
CGAGTCATTC TCCCGCATGT TCTCTGGCCT TCAGT
T
CTCA CTCCAGACCT
12750 |
var(12736):[G:0.38]
CTCAGCTCAT ACTTTCTATG ATCAATTGAA TTTCAA
G
GAT GGGCACCACA
12800 |
var(12787):[C:0.06]
GCCCATGGCT CTCCTGTGTT AAGCTCACCT GGGCTTTCCC TCCCCAG
A
G
A
12850 | Exon 7
E 231
A
C
T
T
G
G
C
A
A
A
C
A
A
G
G
C
T
G
A
C
A
G
G
G
A
C
C
A
G
T
A
T
G
A
G
C
T
G
C
T
T
T
G
C
C
T
G
G
A
C
12900 |
var(12895):[T:0.08]
N L A N K A D R D Q Y E L L C L D 248
A
A
C
A
C
C
C
G
G
A
A
G
C
C
G
G
T
A
G
A
T
G
A
A
T
A
C
A
A
G
G
A
C
T
G
C
C
A
C
T
T
G
G
C
C
C
A
G
G
T
12950
N T R K P V D E Y K D C H L A Q V 265
C
C
C
T
T
C
T
C
A
T
A
C
C
G
T
C
G
T
G
G
C
C
C
G
A
A
G
T
A
T
G
G
G
C
G
G
C
A
A
G
G
A
G
G
A
C
T
T
G
A
13000 |
var(12960):[C:0.10]
|
var(12985):[A:0.02]
P S H T V V A R S M G G K E D L 281
T
C
T
G
G
G
A
G
C
T
T
C
T
C
A
A
C
C
A
G
G
C
C
C
A
G
GTAT CCCCACCTGC CATCCTCCCC
13050
I W E L L N Q A Q 290
TCCAGCTTAG TGCTCCCTGC TTGGATTTGG GGGTTTTCCT CCTGGCCATC
13100
TTGTCACTCT GGAAGTCTGT GTGTTCAGGA TAC
A
GTGGGA GCCATGCCAC
13150 |
var(13134):[G:0.14]
ATGTCACTAA GTTCTCTAAA AGCTGGGACT CCCCACAGAG CAGCAGGGAG
13200
CCTGCTGTGG TGCTACCGTC TG
C
CGCCCTT GCCTTTCTGG CTGGTGACAC
13250 |
var(13223):[T:0.02]
CTGAA
G
AGGC TCTGTATTGC TCTGTTGCAT TCCTTTCTAC CTAAACTTCA
13300 |
var(13256):[A:0.04]
AGGCCCAAAG CTAAACCCCT CCCCAAGGAG GCTTTCCATG ACCCTCCCAG
13350
AAGGAAATGG TCTCTCTCCC CATGCCCCTC AGCCCGGCTG TGAGGGGGCT
13400
GCCTGCACAG CGGCTTTACT TCCCAAGAGC TGTGTGATTT GGGCTCAGCC
13450
AGCTTCCTCT TGCCGAGCCG TCCCATCTGT CC
A
CTGAGAG TTTGACTGG
C
13500 |
var(13483):[G:0.01]
|
var(13500):[T:0.18]
AACCACACAG GGCAGCCTCT GGATTAGCCA CGTTTCTTGT TCTCACCGAT
13550
GTCTCAACCC GTTCCGGGAG ACAGGCACAG AAGCAGGTTC AGG
C
AAATCG
13600 |
var(13594):[G:0.48]
CGGACCCACG AGGGCTACAG GCAGAGGAAG TGCTGGGTGA GCAGGAGCAG
13650
GTCCGACTGC CCTCTCTCCT GGCATCTTGA ACTTTTTCAT GTTGTTTCCT
13700
GCAGAGATTT CTTTTCTCTT CAGTCCCATT TCTCAGC
C
TC CTTTCTTCTG
13750 |
var(13738):[T:0.01]
TGTTGCCATC CACTATTCTG TTTTTCTATG AACAG
G
A
A
C
A
T
T
T
T
G
G
C
A
A
A
13800 | Exon 8
E H F G K 295
G
A
C
A
A
A
T
C
A
A
A
A
G
A
A
T
T
C
C
A
A
C
T
A
T
T
C
A
G
C
T
C
T
C
C
T
C
A
T
G
G
G
A
A
G
G
A
C
C
T
13850 |
var(13802):[G:0.02]
D K S K E F Q L F S S P H G K D L 312
G
C
T
G
T
T
T
A
A
G
G
A
C
T
C
T
G
C
C
C
A
C
G
G
G
T
T
T
T
T
A
A
A
A
G
T
C
C
C
C
C
C
C
A
G
G
A
T
G
G
13900
L F K D S A H G F L K V P P R M 328
A
T
G
C
C
A
A
G
A
T
G
T
A
C
C
T
G
G
G
C
T
A
T
G
A
G
T
A
T
G
T
C
A
C
T
G
C
C
A
T
C
C
G
G
A
A
T
C
T
A
13950
D A K M Y L G Y E Y V T A I R N L 345
C
G
G
G
A
A
G
G
C
A
C
A
T
GTGAGTA CCTGGGAAGA ACCAGGTGAC CACAAGCACT
14000
R E G T 349
TGGGAAACCT GGTGA
G
CACA GGGG
C
CAGAG ATTGAGTCTT TTCAGGGACC
14050 |
var(14016):[A:0.01]
|
var(14025):[T:0.27]
TGCACGCCTC TCCTGATGCT CCTTTTTCTG ACCTGTCTGT GAGCCCAGTG
14100
TTAGACTGAT GCTGAATGGC GTTAGTCATT ATGAGATGGC CTTGATGTCA
14150
CCATGGGCTT TACAGGAAAT CCACATTTAA AATGACGTGG GTTGGTTCCA
14200
GTATTTCCTT TGCATCAATC AGGACTG
C
CT TACCTACTCT GTGAAGGCAA
14250 |
var(14228):[A:0.01]
TTAGCTTATC ACAGAGTAAG TGAAATAGAA CAAAATTGCT ATATATTGCA
14300
CATCTCCAGC CAGTCAACAT GTACCATAAT GAAGAGGTGC TCTAAGAGAG
14350
GTTGATCCCA GTCCTGGATT TCACTGAGTC ACTGTGGTTT TGCTTGACC
A
14400 |
REPEAT
T
T
C
A
T
T
T
A
T
T
C
A
G
C
A
G
A
C
A
T
T
T
A
T
T
G
A
A
C
A
T
C
T
A
G
C
C
A
T
A
T
G
C
T
C
T
G
C
T
A
14450
G
G
T
G
C
T
G
G
A
C
A
T
A
G
G
A
T
G
G
C
A
T
G
A
C
A
A
A
T
A
T
A
T
A
T
T
T
G
A
T
T
C
T
G
T
T
G
T
C
C
14500
T
G
G
A
A
A
T
T
T
C
A
A
A
C
T
G
G
G
G
A
G
A
A
G
A
T
A
A
A
T
G
T
TTAATGAA TAGTCATGCT
14550
ATTGGATGAT GAATTACAAA GTAAGAGATA TGTTTAAAAG GGGAAAAATA
14600
TGACAACAAA ATACCATGGC CCTATGAGAC TGCAAAACAA AGAAAAATAG
14650
GCC
C
T
G
G
A
C
T
T
G
G
C
G
T
T
A
A
G
G
C
A
A
A
G
C
T
T
C
C
T
T
G
A
G
G
A
A
G
T
G
A
C
T
C
T
T
G
A
14700 |
REPEAT
G
C
T
C
A
G
T
C
T
G
A
A
A
G
A
T
G
A
G
C
A
G
A
T
G
T
A
C
A
T
T
T
A
T
T
C
A
T
C
A
G
A
C
A
T
T
T
A
T
T
14750 |
REPEAT
A
T
G
C
T
G
A
C
C
A
T
G
T
G
C
T
A
G
C
A
T
T
G
C
C
C
T
A
A
C
C
C
T
G
A
G
G
A
T
G
C
C
C
T
G
G
T
G
A
A
14800
C
A
A
G
A
C
A
G
G
C
A
G
G
G
C
C
C
T
T
T
C
T
G
T
G
T
T
G
G
A
G
C
T
T
C
T
G
T
T
C
T
C
C
T
G
C
A
G
A
A
14850
A
A
C
C
T
G
A
C
A
A
T
A
A
A
C
A
A
T
G
A
A
C
A
T
A
T
A
A
A
T
A
A
G
A
A
C
A
C
C
T
C
C
A
G
T
A
G
T
T
A
14900 |
var(14874):[G:0.27]
A
G
T
G
C
T
A
T
C
T
G
A
A
A
A
A
C
A
A
G
A
A
G
G
AAAAAA ACAGCCAGAG GTCATATAGT
14950
GCCCAGAGGC TGGAGAGGAA AGTTGGCTTC TCGGAAGACA TAAAAAACTA
15000
AATTTAAATG AGAAGTCAAC CAAGAGATTG TGCATTGACT TTGCTTTCTA
15050
AGGTGATTAA TTCCTTGAAT GGGGTCTGTT TGTTTATTGC TGGCAAATCC
15100
CAGCATTTGC ATGAAGACAG TGAGTAGTGC TGA
C
AAACAC CAGGCAACAG
15150 |
var(15134):[T:0.04]
CTAGGGCCGC TTCTGATCTT TGTTCTTTTT TTATGCCATA G
G
C
C
C
A
G
A
A
G
15200 | Exon 9
C P E 352
C
C
C
C
A
A
C
A
G
A
T
G
A
A
T
G
C
A
A
G
C
C
T
G
T
G
A
A
G
T
G
G
T
G
T
G
C
G
C
T
G
A
G
C
C
A
C
C
A
C
15250
A P T D E C K P V K W C A L S H H 369
G
A
G
A
G
G
C
T
C
A
A
G
T
G
T
G
A
T
G
A
G
T
G
G
A
G
T
G
T
T
A
A
C
A
G
T
G
T
A
G
G
G
A
A
A
A
T
A
G
A
15300
E R L K C D E W S V N S V G K I E 386
G
T
G
T
G
T
A
T
C
A
G
C
A
G
A
G
A
C
C
A
C
C
G
A
A
G
A
C
T
G
C
A
T
C
G
C
C
A
A
G
A
T
C
A
T
G
GTAT
15350
C V S A E T T E D C I A K I M 401
GTCACTCCAG CCTTCCTAGG GCAGCGTCCC TGTCATTGCT GCCTGCTGGC
15400
CCCCAAGACT GAGCTAGGGA GTGTTCCTGG GAATGATGCA AAAACCTGGC
15450
TCCCAGGAAC CTTGCCCTGA CTATGTGAGC ACAGCC
C
CAC CGGAGGTTCA
15500 |
var(15487):[T:0.03]
GAATCTTTGA GCTTGTGGAT CTGAAGGGTG CCCACAGGGC TCAGTTTCCT
15550
CCTTGTATGA GTGTATGGTG AAAGGGCAGG CTGAGCAGTG CCTGCTTAGG
15600
GAGGCTGGAC CATGGTGTGG GTGTCCTGAG ACCAGTGGTG TGCCACGATC
15650
ACTGAGATAA GATCCTGAGT ACATGGTAGG ATCCAATCAG GTACAAATTT
15700
GCTTTGTTGA TCAAAAGAGT ATCCTA
G
C
C
T
G
G
C
A
T
G
G
T
G
G
C
A
T
G
C
A
C
C
T
G
15750 |
REPEAT
|
var(15730):[G:0.41]
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
C
G
A
A
A
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
15800 |
var(15751):[C:0.02]
A
G
T
T
C
A
G
G
G
C
T
A
G
C
A
A
C
T
T
A
G
C
A
G
G
A
C
C
T
T
G
T
C
T
C
T
A
A
C
A
A
CATTTTTTT
15850
TTTAAGAAAG AATATTCCAT GTTGGCTTAC AGAGAATTTT TAAAATCCTG
15900
AATGATATAA AGAAGAAATA AAAAGTACTT ATAATCATGT AATTCAGAGA
15950
AAATTCCCTT ATTGGGATCA TTTCATGTAG GTTGCTTGCT ACCTTTTACT
16000
CACTCACAGT ATCTAGTAAG CTTTTCCCAT ATCATAAATC ATTCTTGTAA
16050
AACCTAATCT G
G
A
G
C
T
T
C
T
G
T
G
T
T
A
G
T
G
C
A
C
A
C
A
T
C
G
A
G
A
T
G
G
G
G
G
A
G
T
A
16100 |
REPEAT
T
G
G
T
T
T
G
C
C
T
A
G
A
G
A
G
A
A
C
A
T
G
A
A
G
T
G
C
C
A
A
G
C
T
C
C
A
C
T
C
C
C
C
C
T
C
C
T
C
C
16150
C
C
A
C
A
T
T
T
C
T
T
G
C
C
C
T
C
T
G
T
G
T
C
T
C
T
T
C
C
A
T
T
T
G
G
C
T
A
T
T
C
T
T
G
A
G
T
T
G
G
16200
A
T
C
C
T
T
T
A
T
A
A
T
A
A
A
T
C
A
G
C
A
A
A
T
A
T
A
TTG AAACAAAGAT GCATATTATA
16250
AAGGTACTTC CTGCCATTGT CAACAGATTT TTGCTGAAAT ATGTTAATTC
16300
TACTTTTTGA GCACTTATGA ATAACCATGT ATCTTCAGAA CTATCTACCA
16350
TGAAGCAAAA AG
G
GACCATC AACCTCATTA TTTTATATTT CATACAATTT
16400 |
var(16363):[A:0.04]
AT
A
GATATCA CTTTATGCTA TTTTAACATA TATTCCATTT TAATTTTTGT
16450 |
var(16403):[G:0.28]
CTGAGTCAAG ACAAGAAAAA CCAAACTAAG TTAAAGCAAA GCCTACAAAT
16500
TCAAAACCTG AGTCTATACA AATCTGTTAG CAGTTTGAGT GGCTGGGCTT
16550
CAATATTATA CTCTGGATGT GATACAATAG ATAAAGTTTT TTACGTCTGT
16600
AAAAAAAAGG AAGA
G
CAAAA GACTCTTGGG AACATGTGAA ATCTTAAATG
16650 |
var(16615):[C:0.02]
AAGATTAAGT ACAACCAAAT G
T
AAACATAT TTTAAAAGGT TCTTCTTGGA
16700 |
var(16672):[G:0.32]
CATCATAATT TGCTCTCCTA TGAAGATGTC ATCGTTTGAG CCTTTAATGT
16750
TGGAAATAGC TTACAGATGT TGGGGCAGAA ACCAAAGACC AACATTGC
C
A
16800 |
var(16799):[T:0.26]
TGTTCTGTGA GACCA
C
GTCC AAGTGGATGA TTGCTGGATA GGTATGTTTC
16850 |
var(16816):[T:0.04]
ATGCATAACA TTTAGTTCAT AAAATTATAT GCTACTTTAG GAGGTCCAGG
16900
GCCCATGGA
T
TAATGAAACA AAAGTAACTA ATCTCATTGC TAGTAAAGAA
16950 |
var(16910):[C:0.04]
TTATTGGAAA CAAAGTTGAA AGACATAGTT TATTTGGTCC CACACCTGTG
17000
ACACATCATC ACTGTCAATG GGAAGCCACT GACCTGTCCC AATTTCCCAA
17050
GGTTGTTATC ATGGACATCA TGGCTGCAGT AGAAAGTGAA GGTGAGTGTG
17100
GAAAACAGAT CCCAAAGTGA CCAGTGCCCT CGGTTATTGC AGTAATCATG
17150
TTCATGAGTA GACACACAGG ACTTCCAAAG GGAGTCATCA TCT
C
GCATAG
17200 |
var(17194):[T:0.01]
AAACATCATT ACTGGTATTA CTGGGATGGC AGAAAGGATT CCCAGACTGG
17250
AGGAGGAAGA TGACTACATT GGATATTTAC CTGTGGCCCA TGTTCTAGAA
17300
TTAAGCTTTG AGCTTCTTTG TTTTTCTCAT GGATGCCTGC TTGGCT
C
CTC
17350 |
var(17347):[A:0.30]
TTCACCCCAG ACTT
C
AGTGG ATCAGTCTTT AAAAGTAAAA AATGGGCTGC
17400 |
var(17365):[T:0.30]
CCA
C
T
G
T
G
G
C
A
T
G
C
A
G
C
T
G
T
A
G
T
A
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
A
A
G
G
T
A
G
G
17450 |
var(17404):[:0.01]
|
REPEAT
|
var(17410):[T:0.02]
|
var(17449):[T:0.28]
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
T
G
A
G
T
C
C
A
G
C
C
T
G
G
G
A
A
A
C
A
T
A
G
T
G
A
G
17500
A
C
A
C
C
A
T
C
T
C
A
A
A
A
A
A
A
T
A
A
A
A
A
A
T
A
A
A
A
A
A
A
T
A
A
A
A
ACC AGAAGCAAAG
17550 |
var(17510):[T:0.03]
GGTGTACTT
C
T
GGGTTGAGA CCAACACTGA TGGCAGCTGT TCTGGAAATC
17600 |
var(17560):[A:0.25]
|
var(17561):[C:0.28]
ATGGATCAGA TCTACCAAAA TGTCATG
A
AT
T
AAGTGTATG AAATCAGTAG
17650 |
var(17628):[C:0.01]
|
var(17631):[A:0.32]
TCTTCAACAC AATCTGTTTA TTCTGGCTTA TAATTATAAA ATGGAACACA
17700
TTTCAAAAGA GCATAGTACT GGATTGTGTG ACAGCTTTGT TTTCTGGAAA
17750
CTGTGAAGCT
A
GCTAGGTGG AAATATTCAG CTTTTATTGT ATGAAAGTGC
17800 |
var(17761):[C:0.28]
TCCACTTTCT GCAACACGCA GCAA
G
TTCAT GAATACAGAC TCACTGAACC
17850 |
var(17825):[A:0.28]
TACAGGGGCT GGAACAATTA CAGATGTGTG GATTACAAGA CTGGCAGAAG
17900
TGAGAGTCCC ATTAGTTTGC TGTGAA
A
TTA AATTAAAGAA CTGGGAGGAA
17950 |
var(17927):[G:0.01]
GGTGGATACT TTAATACTGA AAAACCACAT CCCAGAGGT
A
GAATTCTTAT
18000 |
var(17990):[G:0.29]
CGGTGGCTAA AATGTGACAA TGGGATGCTA CAGAAATGAA GCAGAAACAA
18050
AAGCTGATTT ATTTGAAGAT GGAAATGGAC AGAAGTGATT ATGTCCTAGA
18100
GATGCTGAAG AGTTTGATGG TTGTTTACAG ATGATCGATC ATAAAAAGGA
18150
CCTTGTAAAA CTACAGGCAG GAGACTATGT TTCCCTTGGG AAAGTAGAGC
18200
CAACTCTGAA GAATCTCCCA GTAATAGATG ACGTTTGTGC ATTTGCAAAC
18250
AGTTAATTGT TCTTATGTCA TTGGATTTGT TGTGCCAAAT CAAAAGGAAC
18300
C
AACAGAACT AACTT
G
AAAG AAAGGACTTA CAGGAACTTG AGAGTAGCT
C
18350 |
var(18301):[T:0.50]
|
var(18316):[C:0.01]
|
var(18350):[G:0.01]
TCTAACAGTT GTGAAACAGA AGATGAGGTG
C
A
G
T
A
G
T
C
C
C
C
C
T
T
T
A
T
G
T
G
18400 |
REPEAT
|
var(18389):[A:0.02]
A
G
G
T
T
T
C
G
C
T
T
T
C
T
T
G
G
G
T
T
A
T
A
C
C
T
A
C
A
G
T
C
A
A
C
C
G
T
G
G
T
C
C
A
A
A
A
A
T
G
18450 |
var(18428):[T:0.02]
T
T
A
A
G
A
T
A
T
T
T
T
G
A
G
A
G
A
G
A
G
A
G
A
G
A
G
C
A
C
A
T
T
A
A
C
A
T
A
A
C
T
T
T
T
A
T
T
A
T
18500
A
G
T
A
T
G
T
T
A
T
A
A
T
T
G
T
T
T
T
A
T
T
A
T
T
G
T
T
G
T
T
G
T
T
A
A
T
C
T
C
T
T
A
C
T
G
T
G
C
C
18550
T
A
A
T
T
T
A
T
A
A
A
C
T
T
T
A
T
C
A
T
A
G
G
C
T
T
G
T
A
T
G
T
A
T
A
G
G
A
A
A
T
A
A
A
C
A
T
T
G
T
18600
A
T
A
G
G
G
T
T
T
C
A
G
G
T
T
C
C
A
A
G
A
C
T
G
G
G
G
G
T
C
T
T
G
G
A
A
C
A
T
A
T
C
C
C
T
T
G
A
G
G
18650
A
T
A
A
G
A
G
G
G
G
A
C
T
A
C
CATAC GTAAAGTACT TTCTGAAGCT GCTATTTGGG
18700
CGTGTCTGAA AAAGTTTGAA AATCTATTAA AAATTGGTTT GAGCCCTGAC
18750
CCATGAATCC TGAAACTGGT CTGGTGACAG GTGCCTTCAA GCTAAAACA
C
18800 |
var(18800):[:0.01]
AAAGAATTTA ATACACATTA CCAGGCAGAC TCTGAGCGAA TGTGTGGAAG
18850
AAATGATTTT TCTCTTTTGG CATCAGTTTG CTACAGTGAG
C
TCAAATCAA
18900 |
var(18891):[T:0.48]
ATAGGAAATT ATTTGAAATG CAT
G
TTTCAA ACTGTGAGGC AAACTCCATT
18950 |
var(18924):[A:0.02]
CTTCATATTC AACCTAGATT TTTACTTCTT AAGACATCAC CATTTTCAAC
19000
AGACAGGATT AGTAAAATAG TAGGAGAGCA AACTTGTGTC TGTCTTTTTC
19050
CTTTTCCCCT CCTACAACTA CCTTTACCTA ACCTGTGACT GTATTGTCAG
19100
TATAAGGAGT TTTCTGAATC ATAGTGAGGA AGCAGATTTC TAAAACCTCA
19150
AGTTTCTAAA CATGACCTAT ATATTCAG
T
T TATGTTTAAA GTTTGGATGT
19200 |
var(19179):[G:0.01]
GTAGAGGGAG TTAT
G
GAAAA TATATAAAGT GGCTGTTGGG GGGTGCTTTT
19250 |
var(19215):[T:0.01]
TAACTTACAG TATTAAAAAA ATGCAAGGCT ATTGATGTGA AATTACATAC
19300
AT
T
TCAAATG CTTATGAATC AAATCATTAT TGAGGATAAT ATTTGCTGAT
19350 |
var(19303):[C:0.01]
GTGTAATTAC TATCTTGCAT GAATTAAGAG AAATAAATAT AGCCATACTT
19400
AC
G
TTTTAAA GA
A
A
A
A
A
A
T
G
A
T
A
T
T
T
T
A
A
G
A
C
T
G
A
T
A
T
C
T
A
T
T
C
C
A
T
A
G
C
19450 |
var(19403):[A:0.26]
|
REPEAT
A
T
G
G
A
T
G
T
G
C
T
T
C
C
A
C
T
T
A
T
T
T
A
G
C
T
A
T
T
T
C
T
C
T
G
T
C
A
T
T
G
A
G
C
A
T
T
T
A
G
19500
T
T
T
A
A
T
T
T
T
C
T
T
T
T
T
G
C
T
A
T
T
A
T
A
A
A
T
C
A
C
A
C
C
T
G
T
T
A
T
T
T
T
T
G
C
C
C
A
C
T
19550
T
A
C
A
C
A
T
T
T
T
G
T
C
C
A
A
A
T
A
G
T
T
G
C
C
C
A
C
C
A
A
T
C
T
G
A
T
T
G
T
T
C
T
T
T
T
A
T
G
G
19600
T
T
T
A
T
T
A
C
T
A
G
A
A
A
G
T
A
T
A
T
T
G
C
C
A
G
G
C
C
A
A
A
G
G
G
AAATC TTACAAACCT
19650
TGTTGAATCT AAGCATCTCT GAAATTTGGG GCTTACTAGA GCTGAGATTT
19700
AGAACATTTG AAAATATTTG ACTCATTCAT TAAACATGTT GTATGCACCA
19750
AACACGGAAA TAGCACTCAG CCAAGGAGGC TGACATTAGA GGCTAGAGCC
19800
CCCCTTCAGA AGGTGCTGTG TTCCACAGCC ACAG
C
CACGA GTCCCTGACT
19850 |
var(19835):[T:0.01]
CCACTCATCC ATCTGCACGT GAGAATTCTT GGTGTCAGAA ATGTGTCGTA
19900
GGAGTGTCTC TGGGACAGTG TGTCCTACAA GAGGGCAAGA GGACTGAATG
19950
TGGGTCTTTG CTCTTGAACT AGGCACCTGG AGTTGATGAT CAGTTCATGA
20000
TGGTTGGGTG AAAATGAGAG TACATTTGAT TTTCTCTGCT GA
G
TGTGCCT
20050 |
var(20043):[A:0.26]
GGCTGATCTT T
T
GGGGGTTC AGTATCAGCA TCTGCT
A
TCT CCCTGGCATT
20100 |
var(20062):[G:0.19]
|
var(20087):[G:0.01]
CATGTGCTGG AAAGGCTGCT TCAAGGAAAC AGCTGGAAAA GTGGGTGGCA
20150
CAGGAAACAG CCTCTTTTCA TCTGCTGTGA TTTGCTGTGT CTTTGCAG
A
A
20200 | Exon 10
N 402
T
G
G
A
G
A
A
G
C
T
G
A
T
G
C
C
A
T
G
A
G
C
T
T
G
G
A
T
G
G
A
G
G
G
T
T
T
G
T
C
T
A
C
A
T
A
G
C
G
G
20250
G E A D A M S L D G G F V Y I A 418
G
C
A
A
G
T
G
T
G
G
T
C
T
G
G
T
G
C
C
T
G
T
C
T
T
G
G
C
A
G
A
A
A
A
C
T
A
C
A
A
T
A
GTAAGTGG
20300
G K C G L V P V L A E N Y N 432
TGGGGAGCAC CTCTCTGTGT TTTCTTCCCT CAGGGCCATG GAGAGAGGAG
20350
ATGGAAAAAT CACAG
T
CTGA TTCATACCAC AGCTGCCATA AAGCTTTCCC
20400 |
var(20366):[C:0.01]
TCTCTGAGCA CCTCCTACTT TGCAAGCTCT GGGCTCCTTC ATCTCAAATC
20450
CCCACAGTCA TCTTGAAGGT TGGGAGTTAT AGTACATTCC AGAAATGGGA
20500
AATGAAAGTT CTGCACTGGG AAGTCCTCAC TAAAGATGAC CCCATTGCAA
20550
AGGACAGCTG GGATTTCTGG CAGTCTTCCA GGTTCCAAAA CTCACACTTC
20600
TCTCACTGCC CTGTTGCTAG GATTTAAATA TAGTTGGCTA GCACGCCTCT
20650
GTGGTCTCAG TGCAGACAGA GCAGGAAACT TGACATTCGC AGTTTGTGGA
20700
TAAATTCTAG AGGCCAGGAG GTGAAATGGA CTTGCATGAT CCAGAGAGTC
20750
TGGACTTGTT GGGAATTGAT GACATGTATA GATAATTTTC TCTGACTTTC
20800
TTTATTCTTA GCTGCAGCAT AAAAAAAAGG CATGGTTTCC CAATCTATAA
20850
ATCAGGGTTT AATGCCTT
C
T TCATTTTCTT TTCTCCTGCA G
A
G
A
G
C
G
A
T
A
20900 |
var(20869):[T:0.49]
| Exon 11
K S D 435
A
T
T
G
T
G
A
G
G
A
T
A
C
A
C
C
A
G
A
G
G
C
A
G
GTGAGT TTGAATTGGT AACCTCTGGA
20950
N C E D T P E A 443
GTTAAAAGAT AAATTCCCAT TGTTTTGGGG AATTGGTTAG ATTTAAAATT
21000
CAAGTATATA AGGTGCTGTA AGAGACCAAT TTTCACAATG CGAGAGAATC
21050
ATGGAAGGAT AGTAATGGAT AATGATGGTT ATCCCTTTAC ACTTGCCATG
21100
GCTTGCACAC AGGATTTTTC ATTTAATGCT ATAAGGTAGG TTTTGGCATC
21150
CTCTGAGGAT ACACAAGTGG ACCCTAAGCT GAGGGAGTTT ACAGACAGAT
21200
C
G
TCTAGGAT TATACATCTA GGAAGGGAAA TCCAGGTC
T
T TCCCACTGAT
21250 |
var(21202):[A:0.28]
|
var(21239):[C:0.02]
CCTCACCTGA CATGACATGA GGCCTGCACA TTTTCAGATA AGAGTAAGCA
21300
CCAACCAAGG AACTTTGCTT ATTTATTCCT TACAGGGCTC AATAGAGAGC
21350
CTCACACAGG
C
AGATATCAA G
G
AACATAAA ATTATCTGAC CTTCTAGCCA
21400 |
var(21361):[T:0.12]
|
var(21372):[A:0.01]
GGGCTGGGTC CAGGAACCCA GGCCAACCTG GCTTCTCACC CAGGGCTCTG
21450
GGTAAGGGTA CATCTGAAGA AACAGAGCAG GAGCAAGTCA GGAAGTCTTA
21500
CACCAAGG
T
G AGCACTGGCC CCCTATGCTC AGGCCCCTGC AGGTCACATT
21550 |
var(21509):[C:0.02]
CCAGACAGCC ATTAC
T
GTAC AAGTCTGTCC TTGCCACTTC CACTGATTAT
21600 |
var(21566):[C:0.32]
AACCTCCCAG CCTCTCCCCA TCACTTGGGG AGCTAAGCCC TTCAGCAGAT
21650
ATAGAAAAAG CCATTCTTAT TCTATGGATA ATAAAGATTC TGTTTTCTGT
21700
TGGAAACTGT AATCTGAATT AAACTGGCAA ACTGAAATCA TAGGTTGATG
21750
TTCTATTTCC CATTTTAAGG ACCAGTATAT ATTTGCTGCT GAAAATGGAA
21800
GCTGACTTGA TATTGACATT TTCCATTTTG CATATTTATT TTGGTATAAA
21850
ACTATATTCT CCTTATCAGA AAATGTTTGG CTCA
G
TTTTT TCTCTTTTGC
21900 |
var(21885):[A:0.31]
TTATTGATCT TTTACTACTA TATCTCAACA TATGTTAATT TATGAAAGTT
21950
TGTGGTTACA TTAGCTGTTT CAGTATCCAT TCCTCTGATA GGACTCATTG
22000
GA
T
GGTGAAT TGCTGGCTTA TAACTTCAGT GACTTTATGC ACTTAGGGAA
22050 |
var(22003):[C:0.08]
GGGTTATACA CCCAGCCATT GATCTAATGA TGGTGTTTTC ACAATATTTT
22100
GTTTTTAAAG TTCAGATTAA TCTTCTCCTG ACAGAGTTCC TTGTACTTCC
22150
CCTCAGT
C
AG
A
TACTGGGAA GATCCTCTCA AGACACAATG ACTGATTGAG
22200 |
var(22158):[G:0.01]
|
var(22161):[T:0.01]
GATATCTTTG CTTCCCTAGG GAAATTGATT GGAAGCAGAC ACTCTGGAAG
22250
CCCCAGAGGT GTTAATACAT CCTTTTCTGG TGTCTTTCTT GTAG
G
G
T
A
T
T
22300 | Exon 12
G Y 445
T
T
G
C
T
G
T
A
G
C
A
G
T
G
G
T
G
A
A
G
A
A
A
T
C
A
G
C
T
T
C
T
G
A
C
C
T
C
A
C
C
T
G
G
G
A
C
A
A
T
22350
F A V A V V K K S A S D L T W D N 462
C
T
G
A
A
A
G
G
C
A
A
G
A
A
G
T
C
C
T
G
C
C
A
T
A
C
G
G
C
A
G
T
T
G
G
C
A
G
A
A
C
C
G
C
T
G
G
C
T
G
22400
L K G K K S C H T A V G R T A G W 479
G
A
A
C
A
T
C
C
C
C
A
T
G
G
G
C
C
T
G
C
T
C
T
A
C
A
A
T
A
A
G
A
T
C
A
A
C
C
A
C
T
G
C
A
G
A
T
T
T
G
22450
N I P M G L L Y N K I N H C R F 495
GTGAGTGAAT ATTGGGAAGG AGGGCTGGTG AGGGCCATGC CAGAAAGCAG
22500
GGTCCTGCCT TAGGGAAGAG GAGTGTGGCA T
A
AGGTGC
T
G TGG
G
CTCTGG
22550 |
var(22532):[T:0.01]
|
var(22539):[C:0.02]
|
var(22544):[C:0.18]
TTCTAGAGAA GTAGAATTTG GTCAAAGAAC AGTAGAATTT GCTGTCCTCA
22600
AGGACATAGC AACAAGGGCT GGAAGG
G
CTG GAACTGGGTT GCTGAGTTGG
22650 |
var(22627):[A:0.40]
GACGGTTCAT TTAGGTTGAA CATATTAGCA TGAGTGAATA TAC
A
T
T
T
A
T
C
22700 |
REPEAT
T
C
T
C
A
G
G
A
G
A
A
A
G
A
C
C
A
G
A
G
G
T
G
A
G
C
A
G
T
G
C
A
T
G
G
C
T
G
G
T
A
T
G
G
T
C
A
T
G
A
22750
G
A
A
A
C
C
C
A
G
G
C
T
C
C
T
T
C
A
C
A
C
T
T
T
C
T
G
C
T
C
C
T
C
T
A
T
T
C
T
G
A
G
C
A
T
A
A
G
A
C
22800
T
T
C
C
A
T
C
T
T
C
A
A
G
G
T
C
A
C
C
C
C
A
T
G
G
T
T
G
C
C
A
T
C
G
C
A
T
C
C
A
T
G
A
T
C
C
A
G
G
C
22850 |
var(22837):[G:0.01]
|
var(22844):[A:0.02]
A
G
C
C
C
C
A
G
T
C
A
C
C
A
A
G
G
G
G
T
T
A
C
A
G
C
A
A
A
T
G
G
A
A
G
T
T
T
A
T
G
C
C
A
C
C
T
T
T
T
22900 |
var(22858):[A:0.02]
T
A
A
A
G
G
A
G
C
T
C
T
C
T
A
G
G
A
A
G
T
C
T
A
A
C
C
A
G
T
T
A
T
T
T
C
A
G
C
A
A
A
C
T
T
C
T
C
A
T
22950
T
G
C
C
C
A
G
A
A
C
T
T
A
G
G
T
A
C
A
T
C
A
C
C
A
T
A
C
C
T
A
G
C
T
G
T
A
A
A
A
A
A
G
A
A
A
T
G
T
A
23000
A
T
C
G
T
T
C
A
T
C
T
G
G
A
A
A
T
G
T
C
C
C
T
A
C
C
C
C
A
G
A
T
A
A
A
A
C
C
A
G
A
T
T
T
T
T
G
T
T
A
23050 |
var(23003):[T:0.32]
|
var(23032):[C:0.02]
C
A
A
A
G
T
A
C
A
A
G
G
A
G
A
A
A
C
A
G
A
T
A
T
T
G
G
G
T
A
G
A
C
A
G
G
T
A
G
C
A
A
T
C
C
C
T
G
C
C
23100
A
C
A
AGGTTTT GTATGGTATG TGAGTGTGGG AGATCCCGGG TCTCTTCATG
23150
GTGTTGGCAA TCTCACCAAG TCCCTACCCA GCTCCTAGGA CCCTTCTAAG
23200
CAGTAGAAAT CA
C
CTCATTT TCTATGTCCT CTGAATACCA CCAGGTATGA
23250 |
var(23213):[T:0.01]
GCTTATTTCT ACCCC
G
CTTA AACTTTTAAG TGTAAGTTCT CCTACAGACA
23300 |
var(23266):[A:0.38]
GATGTTTTCC AGTGGTTCTG ATTTACATTA GCTTCCTAAG TACTTTGTCC
23350
CTGCCACCTC CAAATTTGGG CAACTCTTTA AAAAAGAAAA GGCCTCTAAA
23400
TCTGGTTATT AACCCAGAAA ACCCTGTGGG GTCAGGGAAG TGGTGATGAG
23450
AGTATGCCTC TGTACCAGGG TGCTTTGTGA CACCACTTAG ACATGAAGCA
23500
AAGTGTGGCC AAGGTGACAT TCAGAAAACT CAGGATCCCC ACTGACAAAG
23550
GCACTACCTC TGCCCTCCTG AACCTCCTAG CACTTTTATG GCCACAGGAG
23600
AGCAGCTGAG CTGCAAAGAA AATTCCCCAT CCCTTTCCTG AGGTTGGAGA
23650
TGTAGCAAAG GCTCTTCTAA TGAATGGCAG GGAATGGGGA CATCTGAAAA
23700
CAGGTGGCAC AAGCTCAGGA AGCAAGACCT TCAGTCTTCA TCTTTTTCTG
23750
TTCCCTTTCA TGACATTTTT CATCTCTTCT TTGTTTAGCG TA
G
TGATGAC
23800 |
var(23793):[A:0.02]
ATCATTATTG TGCTCAAATA AATCCCCTCT GCCCTGAATT GTAATGGTCA
23850
TTAACTCCTT TTCCCAATCT CAATAGGTTC CCCTTTAAAG CCTATAGCCT
23900
GGCAAGTCCT GGGTTGGTGG TGGCTGGTCA CAGAATTAAT GAATATGTTC
23950
TACTTATTAT GGGCCATGCA GCCCTGTTAT CTCTTAAATA AAAGCTGCTT
24000
GCATTGACTC AGGAAAAGCT GACTTCCTCT TGTCCTTCTG CACAG
A
T
G
A
A
24050 | Exon 13
D E 497
T
T
T
T
T
C
A
G
T
G
A
A
G
G
T
T
G
T
G
C
C
C
C
T
G
G
G
T
C
T
A
A
G
A
A
A
G
A
C
T
C
C
A
G
T
C
T
C
T
G
24100
F F S E G C A P G S K K D S S L C 514
T
A
A
G
C
T
G
T
G
T
A
T
G
G
G
C
T
C
A
G
G
C
C
T
A
A
A
C
C
T
G
T
G
T
G
A
A
C
C
C
A
A
C
A
A
C
A
A
A
G
24150 |
var(24131):[C:0.32]
K L C M G S G L N L C E P N N K 530
A
G
G
G
A
T
A
C
T
A
C
G
G
C
T
A
C
A
C
A
G
G
C
G
C
T
T
T
C
A
G
GTGAGTCTT TTAACCCTGA
24200 |
var(24161):[T:0.03]
|
var(24173):[T:0.02]
E G Y Y G Y T G A F R 541
AACAAATAGA ATAATATACA AGCCCTGGCC AGATTTCTTT TAGGAACTAA
24250
GGTAAGATTC TTAGGTTCCT ATTCCATTAG TGCGGCATGT ATTAAGAGAG
24300
TATATTTCAC AACCAGATAT AGAGCCACAT GGGGAGGGGC AGCCAGACTC
24350
CCCCAGGATG CTGACATGGC TGTCAAAGAC AGCAGAGACT TGTGTTTGGT
24400
ACAGTTT
A
G
C
A
G
T
T
G
T
C
A
A
C
G
G
G
T
G
A
T
T
T
G
A
C
C
C
C
C
A
C
G
G
G
A
C
A
T
T
T
G
G
C
24450 |
REPEAT
|
var(24438):[T:0.01]
A
A
T
G
T
T
T
G
C
A
T
A
T
A
T
T
T
T
T
T
A
T
T
G
T
G
A
C
A
A
T
G
T
T
G
G
G
G
T
G
G
G
G
G
A
G
G
A
A
G
24500 |
var(24487):[A:0.01]
T
G
C
T
A
C
T
A
G
C
A
T
C
T
A
A
C
A
C
G
T
A
G
A
A
G
C
C
A
C
T
A
A
A
C
A
T
T
C
A
A
C
A
A
T
G
C
A
C
A
24550
G
G
A
T
A
G
C
A
T
G
G
T
A
C
A
A
C
A
A
A
C
A
A
T
T
A
T
C
C
A
G
C
C
C
C
A
A
G
T
G
T
C
A
C
T
A
G
T
G
C
24600 |
var(24559):[C:0.01]
C
TCGGCAATG ATACCCTACT GTAGTTGAAT AAACACTGAG TGGAG
T
G
G
A
G
24650 |
var(24646):[:0.38]
AGTTTGGCTC AAGCTTTTCC ATGCACCTCT GGATAATCCA GAACAATACT
24700
CATCTGGAAA TACAGAATAG TACATGATTC CTAAATTCCT AACTACAATT
24750
GTACTTTATG GAGTGCCTAT CATTCATTTT CATAGAGATA CCTGTGTA
C
C
24800 |
var(24799):[G:0.40]
TTGCTA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
G
A
G
A
C
A
G
G
A
G
C
T
C
T
C
T
C
T
G
T
T
24850 |
REPEAT
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
T
A
G
T
G
G
C
A
C
A
C
T
C
A
T
G
G
T
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
C
C
24900
T
G
C
T
G
A
G
C
T
C
A
A
G
C
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
T
A
G
T
A
G
C
T
G
G
G
A
T
T
24950
A
C
A
G
G
C
A
T
G
C
A
C
C
A
T
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
C
T
G
T
A
T
T
T
T
T
T
T
G
T
A
G
A
G
A
25000 |
var(24982):[T:0.38]
C
A
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
C
C
T
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
25050
A
A
T
C
C
T
C
C
T
G
T
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
T
A
C
T
C
A
C
A
G
G
C
G
T
G
G
G
C
C
25100
A
C
GTCTGGCC CTACCTTATT ACTTTTTAAC TACCCATTCT GCTTTAGGCC
25150
TTCTGTTATT TGGTGGTTCA TGAATCCATG AACTGCACAA TGATGATGGT
25200
ATTATAACTG AGCTTCCCCG TAATGATGTA AAAAACAAAG GTCATTCCTA
25250
TTTTCCAGTT AGAGCCACTT TGTAAGTTAG ATTAAGTACA ATTCACATTC
25300
CCCAAGTTTC TAATTTCACA AAGTAGAGCA TGTTGTTTTC ATAAAGATTG
25350
AAGAGTTTGG GGGACTTAAA ATAGAGTTCC CCTTTGCATT TTTGTACCTT
25400
GTCTTTTTCT GGTGATAACA TATGTTTGAG AATTATAGGT CATGAGAAAA
25450
GGCTCAAATA ACATGTATGT ATAAACATGC TTAAAATAAA TGTGTATAAA
25500
GGCTTCTTTT TCTAAACATG TCTTATAAAA CTTAGCTATG AAGTAAAATG
25550
TACCAGACTG ATAAAAAGAC TCCAAACTCC AAAGAAAATA AAATTAAATC
25600
AATATGTGGC ACAATAGGTA CCCCGTCTTC TCAGCTAGCT ACCCCCAAAA
25650
CTCTTGAACC GATGCAGTAA TAGGCAGGTT CTTTTCCTTG AAGCAAGGGG
25700
ATTAAAGTAC ATGGAGAGCA GGGTTCAGTC CATTGTCCAA AAGTCCAACC
25750
CACTCGGCTC ATTGAGGAGG GCCTTGTGTA GATTTTGAAG TACACACTAG
25800
TTCATCATCT GTGTGGTATG CCCTTTCAAA GGACTGGAAG ACAG
T
CAAAA
25850 |
var(25845):[C:0.01]
TTAAAATTAG AACCCTACTA ACCAGAGTTT ATTTTGTTAT TATTTCTTTT
25900
CTGAAACTTC TTGGGGACTT GTAGCTCAGA GCTGTGTTAC AACCCCCATT
25950
ACCACACCCA GAGATATGTG GCCTGGGAGT TAGTAGAGTC AGGTGCCTTT
26000
ATGCCATGTT TTGCCATATT CTCTGCATTT CTCAAAAACA AAAACAAAAA
26050
A
C
CCCACAAC ATAGCAAATG CTCCATAAAT GTTAAAATTC TTTTTCAAAG
26100 |
var(26052):[A:0.36]
GAATGAAGGA CAGCACAAAT TGCAATTTGT GATGGAGTTT CAGTCTCTCA
26150
CAAATGTTGC CTAGACATTC GCCTTGTATG AGAACCTGAA GGAACTGAGT
26200
TTTTCATTCA TATGCTGGGG GAGGCATCAC CTCACTGAAA ATCAATTCCC
26250
TACTATCCTT GTTGATGTCA GGGAAATTAT GTCATCTCTC AGAGAAACAG
26300
TACAAAAAAT TAAGATTTAG TATGTGGAAC TGAGATTGTA AAACTACAAT
26350
CAATTCAGAG TGTTTTGTTT TTGTTCTCTT TATTCCTTAC ATTGCTTACT
26400
GTTAGAATGG AAGTTACAGT TGCTGTTTTC AGATGGCTGT CCTGAATCTA
26450
TAAGGTAGCC CCC
T
GAATGA CAGATAAGTC ACTCTGACCG CCTTTTTTTT
26500 |
var(26464):[:0.03]
TCTCTCCCAC TTCTGGACCT CTGCAG
G
T
G
T
C
T
G
G
T
T
G
A
G
A
A
G
G
G
A
G
A
T
G
T
26550 | Exon 14
C L V E K G D V 549
G
G
C
C
T
T
T
G
T
G
A
A
A
C
A
C
C
A
G
A
C
T
G
T
C
C
C
A
C
A
G
A
A
C
A
C
T
G
G
G
G
GTAAGTGCA
26600
A F V K H Q T V P Q N T G 562
CCTGCTCCTC TGTCCCCCTA GATCACTAGA TCCTGGTCAC TGGTATTCAC
26650
TTGTATTCAG GGATGCCTTT GTGGAAGTAT TAT
G
TACACT GTCAGACTTC
26700 |
var(26684):[A:0.01]
AAAGCTCTGA TTCTCAGTCT GTCTGCTCAG TGAAGAGAGA CATGTTCACC
26750
TGAGTGC
G
CA GAATGATCAG GATTATG
G
GG CCCCCAATGG CCCTAAATCC
26800 |
var(26758):[A:0.22]
|
var(26778):[A:0.01]
TCCCCAACAC ACACTCCCAC
A
G
C
T
G
C
A
A
G
C
C
T
T
G
T
G
C
T
C
C
T
T
T
C
C
C
C
T
A
A
26850 |
REPEAT
A
T
A
C
T
T
C
A
G
T
G
C
C
T
A
T
T
T
C
C
T
A
A
G
A
A
T
A
A
G
A
C
A
A
T
C
T
C
T
T
G
C
A
T
A
C
C
C
A
C
26900
A
G
T
A
T
G
A
T
T
A
C
C
A
A
G
A
T
C
A
G
G
A
T
C
T
T
T
T
A
C
A
T
T
A
T
G
T
G
G
A
T
T
T
A
A
T
A
C
T
C
26950
G
T
C
A
C
G
T
C
C
A
C
A
G
T
C
C
A
C
A
T
T
T
A
A
C
T
G
T
T
G
T
C
A
G
T
T
A
T
C
C
C
A
G
T
A
A
T
G
C
C
27000
T
T
T
T
A
T
A
G
C
T ATTTAC
T
G
T
A
C
T
T
C
T
G
G
G
T
T
G
T
G
T
C
C
A
T
T
G
A
G
A
A
G
G
C
C
T
A
27050 |
REPEAT
G
A
G
G
C
A
A
T
G
G
C
A
T
A
C
C
A
G
C
A
G
G
A
G
T
A
A
G
C
A
C
C
A
A
G
A
T
A
T
T
G
G
C
T
T
G
T
A
A
G
27100
T
A
C
T
C
T
T
C
T
T
T
A
C
T
A
A
A
A
G
G
A
A
C
C
A
G
A
A
C
T
C
C
T
T
G
G
A
A
A
A
A
T
A
G
C
T
G
A
C
T
27150
T
C
A
G
G
G
C
T
G
G
G
G
C
A
G
G
A
A
A
A
A
T
A
G
A
T
G
C
T
G
A
G
C
C
T
A
G
A
A
C
A
A
C
A
C
A
C
T
G
A
27200
A
G
T
G
C
T
C
A
A
A
C
A
G
T
G
A
T
G
G
G
A
C
A
C
T
C
A
A
A
G
C
A
T
A
C
A
A
G
A
A
C
C
A
A
T
T
T
G
A
A
27250
G
G
A
T
C
T
C
C
T
G
T
T
G
C
C
A
A
G
T
C
T
G
G
G
A
A
T
T
T
T
G
A
G
C
A
T
T
A
A
A
A
T
A
A
A
T
A
A
T
G
27300
A
T
A
G
C
A
G
T
A
A
G
G
G
A
T
A
A
T
A
G
C
C
C
A
T
T
G
A
A
A
G
A
A
A
T
A
A
G
A
A
T
G
C
A
T
G
A
G
G
C
27350
A
A
T
A
C
T
G
A
T
T
A
A
A
C
A
A
A
T
G
A
A
G
A
A
G
G
G
A
A
A
A
C
T
A
A
T
C
A
A
T
G
T
G
G
A
A
G
G
A
A
27400
T
G
A
T
A
G
A
G
T
T
A
G
A
A
A
A
C
T
A
T
C
A
C
T
T
G
G
C
A
A
C
C
A
A
T
A
T
A
T
T
G
A
T
A
A
C
T
G
A
T
27450
T
C
A
A
G
C
A
A
G
A
A
T
C
A
A
T
G
G
G
T
G
T
T
A
A
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
27500 |
REPEAT
|
var(27485):[A:0.41]
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
G
A
27550 |
var(27509):[A:0.13]
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
A
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
27600
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
C
G
G
T
G
G
T
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
27650
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
T
G
G
G
A
A
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
27700 |
var(27688):[A:0.28]
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
G
T
C
C
G
C
A
G
T
C
C
G
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
27750 |
var(27733):[A:0.01]
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
T
C
A
A
T
G
G
G
T
G
T
27800 |
REPEAT
T
A
A
C
T
T
G
T
G
G
G
T
G
A
A
C
G
T
T
G
G
A
CAGCCATA ATATTAATAA AAACAAACAA
27850
AACAAAGCAA AACAAACATT GGCCAGACTG AGCACTCCAC ACCTGACCCC
27900
TCAGTATCAC TAAGTGCTAG CAGAGCCCAC TGGAATTCAA GCTGTGAATA
27950
CTTCCCTGCC TTCTCTCATG TTCA
T
T
C
C
C
C
A
A
C
T
C
C
T
C
A
C
T
T
T
T
C
C
T
G
G
G
28000 |
REPEAT
C
A
A
C
T
C
A
T
C
C
A
G
A
A
T
G
A
A
C
C
G
G
C
T
C
A
G
C
A
C
C
A
G
C
C
C
C
T
C
C
A
G
G
A
A
G
C
C
T
T
28050
C
C
C
A
G
A
T
G
G
C
A
T
A
C
C
C
T
G
T
C
C
T
A
C
A
A
G
A
A
G
A
C
T
C
C
T
C
T
G
T
T
C
A
T
A
T
T
G
C
C
28100
A
T
T
A
T
G
A
T
T
G
A
A
T
T
C
A
C
C
A
C
A
C
T
C
T
G
T
A
A
T
A
C
A
C
T
T
T
G
G
C
T
A
C
A
G
A
A
A
C
T
28150
C
T
T
T
G
A
G
C
T
C
T
T
T
T
T
C
T
T
C
A
T
C
T
T
A
T
A
T
T
C
C
C
A
G
A
A
C
C
T
A
G
T
G
T
A
G
C
A
C
A
28200
T
A
G
T
A
C
A
C
A
G
C
A
G
T
T
G
C
T
A
A
G
A
A
T
T
T
G
T
T
T
G
C
A
G
A
A
ATAT TGGGTTGACT
28250
AATTTTCCTT TCTTCCCTCG TATTATTGCT TTTTCCTTTA AGAGAGTGTT
28300
ACCCTAAGCT TGGCTCTTTG CCACCCTTGA TTTCTTTTGG TACTTTTCTG
28350
AGTAGAGCTC CCTTCTTTAA GCTTTGACTC TCTTACTCTT TGCAATGACT
28400
CAAAAATTCT TCCCTCCTGC ATAGAATTAA GATAGGAGGC CTGACATCCA
28450
ATCTCAATTC CATTCCAGTC TATTTCCCAA GGTGTCACTT TTATGTAGAG
28500
AGTACATTGG CATTGCAATT GTATTTTTTT ACGTGTGTAT ATGGATGTCC
28550
TCATATATTG TAGTTGTATA TATACAATCC ATATACAACT CAACTGTCCT
28600
CATCTTTCTG TCAACGTTCC
C
TCCTCTTCT CCCAGCCTCT ATCCTTATAG
28650 |
var(28621):[A:0.13]
AGAATCCTGC TATACTCCCT GCCCATCAGG CCTAGATTAA GTCTGTCAGT
28700
CAATATCTTA TTTCTTCAAA ACGTGTCTTT TTTCAAACTA AATTTTATTG
28750
TGTGTATTTA AGG
T
A
G
A
C
A
A
C
A
T
G
A
T
T
T
T
T
A
A
G
A
G
C
C
A
A
A
G
T
A
A
T
T
T
T
G
A
28800 |
REPEAT
T
G
T
A
T
T
G
T
A
A
G
T
T
T
G
G
G
A
A
C
T
A
C
T
G
GTCTA ATACCCCTGA CTTAATATCA
28850
CATTCCTGAT AAATATTACT AAATGTAAGT CACATCATGT CTGATTCATC
28900
ATACTTATAT TTTGCACCTT CTTACCTTCT TCTGTTATTA ATTTGTTGC
T
28950 |
REPEAT
T
T
T
T
C
A
A
C
T
T
A
T
A
T
T
T
T
A
G
A
T
T
G
A
G
G
G
T
A
C
A
T
A
T
G
C
A
G
G
T
T
T
G
T
T
A
C
A
T
G
29000
G
T
A
T
A
C
T
G
C
A
T
G
A
T
G
C
T
G
A
G
G
T
T
T
G
C
G
G
T
A
T
G
A
T
T
G
A
A
C
C
T
G
T
C
A
C
C
C
A
G
29050
G
T
A
G
T
G
A
G
C
A
T
A
G
C
A
C
A
C
A
A
C
A
G
G
T
A
G
C
T
T
T
T
C
A
A
C
T
C
T
T
G
C
C
C
C
C
C
T
C
T
29100
C
T
C
C
C
T
C
C
T
C
C
AAAATCTGT CTTAAGTGCT ATGGTATATA CAAGAAGGAA
29150
GACACAAAAC CACGTGGGC
T
T
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
C
T
T
T
T
T
G
A
G
A
T
29200 |
REPEAT
|
NOT SCANNED
G
G
A
G
T
C
T
C
A
C
T
T
T
G
T
T
G
C
T
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
A
T
G
T
G
A
T
C
T
C
A
G
C
T
C
29250
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
A
T
T
T
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
29300
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
T
G
C
A
C
C
A
C
C
A
C
G
A
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
29350
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
G
G
C
C
A
G
G
A
T
G
G
T
C
T
C
C
A
T
C
29400
T
C
T
T
G
G
C
C
T
C
A
T
G
A
T
C
C
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
T
C
A
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
29450
C
A
G
G
T
G
T
G
A
C
C
C
A
C
C
G
C
G
C
T
C
A
G
C
C
C
A
C
A
T
G
G
G
C
T
C
T
T
T
T
A
T
C
A
C
A
A
T
T
T
29500
G
T
G
T
GTGTGT GTGTGTGTGT GTGTGTGTGT GTGTATGTGC ATATTATAGG
29550
TGTGTGTAGG AAAAAGAATG TTAGAAATGT ACCAATTTTG AAGGCGTAGA
29600
CTATGAAATT ACAAATGCTT CAAAATTTTC TTCCCAATAC TTACGTGGCA
29650
TTTTATAAAT TTCCACCAAT AAACGTGTAT TATTTTTATT GAAAAAGCAT
29700
ATTTTTAACA TGCCCTTCTA GATGCCCTCC TAGCCAGACT GAATCACCTC
29750
CCATTTGATT TTTCTTAATT TTCTACCTTT AGGTTCTGGC TCATTCATTA
29800
ACATCAATTT CCATTCATAA GTCCTCACAA ACCCACTTTT CCTCTTGCCT
29850
GAGTGCCTCA CATACCCTAC TGCCTGAGAT GGTTCCAGAG GCGGTCTCCT
29900
CTCTCCCTTA GAAACACCAG GCACACAC
C
T GCCCC
C
AGTC TCGCCTGCAC
29950 |
var(29929):[T:0.02]
|
var(29936):[:0.01]
TCTCCTTTCC TCCCGCAGAG AGGCATTCCT TTCTCCTCCT CTCATCCTAC
30000
ACACACTATA AGAGACAACT GAAATCTTGC CTCCTCCAGC CAGCTTCTTA
30050
ATTCATTTGT TCTCAAAGCC CTGGTTTGAG CTCACACAGC ATCTAGAGTG
30100
TTTTACAAAA TATAAAATAT TATTATCCCT GCCCTGAATT TTTTGTTTTG
30150
GTATGTGTGT TATTTTCCCC TCCAATAAGA TTGTGCCTTG GAGAGGGCTG
30200
AGAACATAGT ATCATAGATA AATGAATAAA ATAACATAA
A
ATAAAATAAA
30250 |
var(30240):[C:0.01]
A
A
T
A
C
A
T
A
T
A
C
C
C
T
T
T
G
A
A
C
T
A
A
C
T
A
T
T
C
C
A
C
T
T
C
T
A
T
G
T
A
A
G
C
A
C
A
A
T
T
30300 |
REPEAT
A
T
A
T
G
C
C
A
G
T
A
A
C
A
C
T
C
A
T
T
T
T
A
A
C
G
C
T
A
C
T
T
T
A
G
T
G
G
C
A
A
A
A
A
A
T
T
G
T
A
30350
A
A
C
A
C
C
T
C
A
G
A
T
G
C
C
T
A
T
T
A
A
A
A
G
A
G
G
A
A
T
G
G
T
T
T
A
A
A
G
A
T
A
C
T
A
T
T
A
T
A
30400
G
C
C
A
C
A
C
T
A
T
G
A
A
A
T
A
T
A
A
T
A
C
A
G
T
A
G
T
T
A
A
G
A
A
G
A
A
C
G
A
G
C
T
T
G
A
T
T
T
G
30450
T
A
T
G
T
A
C
T
G
A
C
A
A
G
A
A
G
A
A
T
C
T
A
T
A
A
G
G
T
A
T
G
T
A
A
A
C
A
G
T
T
G
A
A
A
A
A
A
A
A
30500
G
C
T
A
C
A
G
A
G
T
T
T
T
A
C
A
T
T
T
G
T
C
A
A
G
A
T
C
T
A
A
C
A
C
T
A
A
A
C
A
A
A
A
T
T
A
G
A
A
A
30550 |
var(30504):[:0.02]
C
A
T
G
T
G
A
A
A
T
C
C
A
T
A
T
A
C
A
C
A
C
G
T
A
G
A
A
A
A
A
TACATATAA TGAGCCGTGG
30600
ATGGAAACTC GCAAATGTGA TATTAAAGAC TAGCACTATA AGACTGAGTG
30650
AGATTTGGAG AGTATAGGAA AGGAGGCTTT TAGTTAATAT AGAGAGATAT
30700
TCAAAAATTT ATGAGTGTGA TCTCATGTAT TAGTTATTCG GTTAAAGAAA
30750
CAAAATTAAA TGAAAAATAC ATTTTTAAAA AGGTTGCAAT TCTGAATTAT
30800
GGGAGAGAAA TAAAAATTAG CAAAACATAT TTGCAAAGTG GCTCAGGAGG
30850
AAGGAGCTGA AACCCTAAGA ATGGGTGAGT T
T
TTTTTTTT TTCAGAGACA
30900 |
var(30882):[G:0.02]
ATACAGAAAA GAAGAGGCAA AGGGGCCGAG ATGGGATACA GACCTGTATC
30950
ACACAGGTGT GTGCACATTC TCATTTAGAA CTGGAACAAG GGAGTCAGA
T
31000 |
var(31000):[C:0.26]
TTAAAATTCT GGTGCAGATT CCAAAGGTGT TCTCTGAGGA AAAGTTCTTT
31050
TGTTTGGAGA TGCCATGTGT TACAGCACAG AAATTGATCA ACCTGGCTTA
31100
GAGCGTCACA TTCTTCCTCT GTTGGAGCAA GAGGTACAGA AGGAATTGGA
31150
ATTTAGTGGA ATTGAAGATC TTTTTGAACA GCATCTGCAG AATGTAGTTC
31200
ATTCTCACCT GGCTGGGTAG GGAAGGTTGG AAGGGGATGG TCAATAATCA
31250
TTCCTGGTCA CTGTGAGTCT GGCATCACCT TGTAGACCAC ATGGGTGTCT
31300
CTTCCTGTCC ACATCACTGT AACCCCAGTG TGGGCACTTC TGCTGGCGAG
31350
AAGGCCCAGG TTCTCTACAC ACCACTGAGT CAGTTCCATC TCCCCAGCGG
31400
GGCACCTTGA
C
CAAAGCCAT CAGCTGAACC ACCTTCTTCC TGTCCCTAG
G
31450 |
var(31411):[A:0.03]
| Exon 15
G 563
A
A
A
A
A
A
C
C
C
T
G
A
T
C
C
A
T
G
G
G
C
T
A
A
G
A
A
T
C
T
G
A
A
T
G
A
A
A
A
A
G
A
C
T
A
T
G
A
G
T
31500
K N P D P W A K N L N E K D Y E 579
T
G
C
T
G
T
G
C
C
T
T
G
A
T
G
G
T
A
C
C
A
G
G
A
A
A
C
C
T
G
T
G
G
A
G
G
A
G
T
A
T
G
C
G
A
A
C
T
G
C
31550 |
var(31527):[T:0.05]
L L C L D G T R K P V E E Y A N C 596
C
A
C
C
T
G
G
C
C
A
G
A
G
C
C
C
C
G
A
A
T
C
A
C
G
C
T
G
T
G
G
T
C
A
C
A
C
G
G
A
A
A
G
A
T
A
A
G
G
A
31600
H L A R A P N H A V V T R K D K E 613
A
G
C
T
T
G
C
G
T
C
C
A
C
A
A
G
A
T
A
T
T
A
C
G
T
C
A
A
C
A
G
C
A
G
GTATGG ACCAGCCAGG
31650
A C V H K I L R Q Q Q 624
TCCTCCCACC TTTTCTTCCT AGATGGCCAT AGGCTATTCG GGGGGAGTTT
31700
A
C
AACAAAGT GCAGCCATGA CTCCAGCACT TTCTTTTTGA AAACTAGAAT
31750 |
var(31702):[A:0.18]
TCCATGCATT GTGCATTTCA TGC
C
A
T
G
C
A
T
T
G
T
G
G
A
C
T
A
G
A
G
T
A
T
C
A
G
G
G
31800 |
REPEAT
T
T
C
A
A
A
T
C
A
C
A
G
C
T
C
C
A
C
A
G
C
T
T
C
C
T
A
G
T
T
G
T
G
C
C
A
T
C
T
T
G
G
G
T
A
T
G
T
T
A
31850
C
A
T
A
A
C
C
T
C
T
C
T
A
T
G
C
C
T
C
A
G
C
T
T
C
C
T
C
A
T
A
T
A
T
A
A
A
A
T
T
G
T
A
A
T
A
A
T
A
A
31900 |
var(31851):[T:0.01]
T
A
T
T
T
T
T
A
C
C
T
A
C
T
T
C
T
C
A
G
T
T
A
A
C
A
T
G
A
G
T
A
T
T
A
A
G
T
G
A
A
G
A
C
A
T
G
C
A
C
31950
C
C
A
A
A
C
G
G
C
A
T
A
G
G
A
A
A
A
T
T
C
C
A
T
T
T
C
C
T
A
T
A
G
G
A
C
G
T
G
C
T
C
A
A
A
A
T
A
T
G
32000
T
T
A
G
C
T
G
T
GT AATTATGGAA C
T
AGACCTCT CAGGCCCAGC TCTGCTTCTA
32050 |
var(32022):[C:0.17]
GCTCCTGGTC ACTGGTGATT AGA
T
CTGATC CATGTACTCT TGGGACTAGG
32100 |
var(32074):[C:0.01]
AATCTGCCTT TCTGCTCCCC CTAACCTTGT T
C
AGGGGTAC CCTCATTTCC
32150 |
var(32132):[T:0.04]
CCTACTCCTG TCCTTCCCGA AAATGAAGAA GACAGCTCC
T
GTTTCCCAGC
32200 |
var(32190):[C:0.13]
GCTTGTTGA
T
ACGAGTCATG AAGAGTGGAT TTCTGTTCCT CTTGCCTAGG
32250 |
var(32210):[C:0.01]
CAGACTGAGC ACTGTTCTCA ACAGTCTGAA AAACACAGGA CCCTTGCCCT
32300
CGGAGAGCCT GCCCTCTGGG GGAACAACCA CTCAGGGCCA GCCTTGTTGA
32350
AGACAGGGGC TGCCTGAGTA TTCTAATCCT AAAGGCCCCT CCACACACAC
32400
ACATCACCTT CCTTTTGGGC ATAGCTGCCT GCTGTTGATT CACCATTACC
32450
TTTTTTTAAA AAAAATAAGA GTATATTTGA AGTCCTTTTA AGGTACATGA
32500
CAATAATAAG CATTTAACAT ACATTTCCTA GCTGCTATAT GGAAAGTTCA
32550
ACATT
T
TGCA GTCATCATTT CACTTACAAC CTTTGGAGAT CTGGAGAAGC
32600 |
var(32556):[G:0.09]
TGAGTGGCTT GCCCAAGAAA GGATTCAAAA TGC
A
GTCAAA CATGAACTTT
32650 |
var(32634):[G:0.29]
TAAGAACTAC CTCTGCCACT CCTCTGGGAG GGTTCACATT TAACATCTTC
32700
TTTGACAATA ACATCTGAAG GGACATGTTA TTGTCCTCTC ATTTCCTATA
32750
AGCAGCCCCC AGTGAAGGGC AATGAAGTGG GGAAGAGAGG TCAGAGTAGG
32800
CAGGCATGGG TGTGGGTGGG AGGGACTTAT CAGAGGAAGG TGGGA
C
CAGG
32850 |
var(32846):[A:0.20]
GACCCTATAG ATGATTTTGG GGGCATCATG AAAGCATGCA GCTGGGGCCC
32900
TAAGTGGATA AATGGCAGAT AAAGGAGGTG GAAAATTCCC AA
G
ACATACT
32950 |
var(32943):[:0.01]
CCGTAGCTTC CCTTTTTCCC CAGGGCTGGT TCAGAGCTTT CAGACTCTTC
33000
TCATCCATGT GTTCCCAGCT GCTAAAGACC A
C
AAGGTCCT CACGGACTTT
33050 |
var(33032):[T:0.01]
CTGTTCACTT GACAG
C
A
C
C
T
A
T
T
T
G
G
A
A
G
C
A
A
C
G
T
A
A
C
T
G
A
C
T
G
C
T
C
G
G
G
33100 | Exon 16
H L F G S N V T D C S G 636
C
A
A
C
T
T
T
T
G
T
T
T
G
T
T
C
C
G
G
T
C
G
G
A
A
A
C
C
A
A
G
G
A
C
C
T
T
C
T
G
T
T
C
A
G
A
G
A
T
G
33150
N F C L F R S E T K D L L F R D 652
A
C
A
C
A
G
T
A
T
G
T
T
T
G
G
C
C
A
A
A
C
T
T
C
A
T
G
A
C
A
G
A
A
A
C
A
C
A
T
A
T
G
A
A
A
A
A
T
A
C
33200
D T V C L A K L H D R N T Y E K Y 669
T
T
A
G
G
A
G
A
A
G
A
A
T
A
T
G
T
C
A
A
G
G
C
T
G
T
T
G
G
T
A
A
C
C
T
G
A
G
A
A
A
A
T
G
C
T
C
C
A
C
33250
L G E E Y V K A V G N L R K C S T 686
C
T
C
A
T
GTGAG TAGGAGGAAC AGCATGGGGA AGTGGCAACC AAACATGGTG
33300
S 687
GTGAGTGCTG GGATGGTGGG TGGGTACAGG AGGGGTAGGC TGTGGCCCTT
33350
GGGATAGGAC AACATGGACA AAATGAAATG GTGAGTGAAC AATCTAAGCC
33400
CGGCATGTAT GACAGGCTAG ACTGTAGGGG CAGATAGTAA GGGGATACAG
33450
GCTCAGAGCA CTAAGGTAGT GAACTTATTG GGTATAGAGA ATTCCATCTT
33500
ATTTCTAAGA AAAGGACTGG GTTTATGTGT ACATGCCATT GCTCTGCAGT
33550
AAACTTTTGA TTAGAGT
T
G
C
C
T
T
G
T
C
C
A
A
T
A
T
G
G
T
A
G
C
C
A
C
C
A
G
C
A
A
G
A
T
33600 |
REPEAT
|
var(33583):[T:0.02]
G
T
G
A
C
T
A
T
T
T
A
A
A
T
T
T
A
A
G
T
T
A
A
T
T
A
A
A
A
T
T
A
A
A
C
T
A
A
A
T
A
A
A
A
G
A
T
G
T
A
33650 |
var(33612):[T:0.01]
T
T
T
C
T
T
C
A
A
T
C
C
C
A
C
C
T
A
G
C
T
G
C
A
T
T
T
C
A
A
G
T
G
C
T
C
A
A
C
A
G
C
C
A
C
A
T
G
T
G
33700
G
C
T
C
C
A
T
A
T
T
G
G
T
C
A
G
C
A
A
A
G
A
G
A
A
T
G
T
T
T
G
C
A
T
C
A
T
C
A
C
A
G
A
A
A
G
C
T
C
T
33750 |
var(33726):[C:0.29]
|
var(33733):[T:0.04]
T
T
C
A
G
A
C
A
G
T
G
C
T
G
CTCTAG ACAGCTTCAA CAATGATAGG TTCTGGTAAC
33800
CATAAAGTTG CTATGCATAC TACTCATTTG GAACACCAGT TTCTGAGAAC
33850
TGAAATAGAA TAAAACACAT CTTTGCAGTA TAACTATGTT GGGTGTAACT
33900
GAGTCACCTG AAAAAGTTTG GAAGCTGGGG AATAACATGT GGTGTAGGGC
33950
AGTTAGTCTT TCCACAGGAG TATGCAGATA AGGGAGTCTT GATC
C
T
T
A
T
T
34000 |
REPEAT
A
A
A
A
T
G
C
T
G
A
T
T
C
T
C
A
G
A
G
C
C
T
T
G
A
G
A
T
A
C
T
G
A
T
T
T
A
G
A
A
A
G
T
C
T
G
T
G
C
T
34050
A
G
G
T
C
A
G
G
T
A
T
C
C
G
C
A
T
T
T
G
A
A
A
A
G
C
T
G
C
C
C
C
C
A
T
G
T
A
A
T
T
C
T
G
A
C
G
G
A
A
34100
G
C
AGCAATGT GCTTGTCTAG GTTCGCTATT GTGAGAATCA AGTTGATATT
34150
TACCTAACCT ATATC
C
T
C
C
A
C
A
A
A
A
G
C
A
G
A
C
A
G
T
C
T
G
G
C
T
C
T
G
C
T
C
T
T
C
T
34200 |
REPEAT
T
T
C
C
T
C
C
A
T
C
C
T
T
A
G
C
C
C
A
C
A
G
C
A
C
A
G
A
A
A
C
T
G
G
C
A
C
A
T
T
G
C
A
G
G
T
G
C
T
T
34250
TTTGCTATGT CAGTTCCTCA CCTGCTTAAA GAGGTCAGGG AGGACAGTCT
34300
TCCTGGGCGA CTCCTGGCCT CAGGAACTCA GATGTGTGAG CCTCGCCCAT
34350
AAGAAACAAG GTGGAGGACC CTGTAGGGCA GGAAAATCAT GTTAACAGCT
34400
TTGGCGTGGG GCACTCCCCA GGATAGGCAC AGGAGCTGTG CAGGCAAGTA
34450
GAAAAGAGCA CTGGGAGAAC GGCCCAGTTC ACAGAAGAGG AGGCAGCAAG
34500
TCTGCACACT TTGTACTATG CTGAAATTGT TCAATCACTC GACAGTTCAG
34550
AAATAAATAT AGGAAGATTT TGAAAATCCT ACCTCTCTGC TCTGCTCCAC
34600
AG
C
A
C
T
C
C
T
G
G
A
A
G
C
C
T
G
C
A
C
T
T
T
C
C
G
T
A
G
A
C
C
T
T
A
A
A
A
T
C
T
C
A
G
A
G
G
T
A
34650 | Exon 17 |
UTR
S L L E A C T F R R P 698
G
G
G
C
T
G
C
C
A
C
C
A
A
G
G
T
G
A
A
G
A
T
G
G
G
A
A
C
G
C
A
G
A
T
G
A
T
C
C
A
T
G
A
G
T
T
T
G
C
C
34700
C
T
G
G
T
T
T
C
A
C
T
G
G
C
C
C
A
A
G
T
G
G
T
T
T
G
T
G
C
T
A
A
C
C
A
C
G
T
C
T
G
T
C
T
T
C
A
C
A
G
34750
C
T
C
T
G
T
G
T
T
G
C
C
A
T
G
T
G
T
G
C
T
G
A
A
C
A
A
A
A
A
A
T
A
A
A
A
A
T
T
A
T
T
A
T
T
G
A
T
T
T
34800
T
A
T
A
T
T
T
C
AA AAACTCCATT CTTTCCTAAA TATTTTCAAC AAAGGATTTC
34850
TTTATGCATT CTGCCTAAAT ACCTATGCAA CTGAGCCCTT CCTTCTCAGC
34900
TCAAGATTCG TCTGGTCTTT CCCTACAGCT TTGTGTGTGC CATGGCCACA
34950
TCTCCTGGGT ACAGTTCAAG GAGACATCTT TTCTAAAAGG GTCTGCGTGA
35000
TCATTAAAAT ATAATCAAAT GTATACTGGT GTGTGTGTGC ACGTGC
G
CGT
35050 |
var(35047):[A:0.01]
G
C
GTGTGTCA TGCTAAGGAA GGGGCAAGAA GGAGGATGCA GAGTGAGTTA
35100 |
var(35052):[T:0.03]
CAGAGATCAA GTACTCAAGT GAGTACAGAA AGACTACAGA AGACTTACCT
35150
TTATTTGGTA TTTTAAATGA ATTCCATCAG GCTGAGGTCC TGATTCTAAC
35200
TAGCTGAAAA AAGTGAAACA CTGACATCTT TTTTGCTGAA AAGCATTCCC
35250
TGAGCTTGAT GCCACAG
C
A
G
T
T
A
C
T
G
C
C
C
T
G
T
C
T
C
C
T
G
C
C
C
T
T
C
T
C
A
G
C
C
35300 |
REPEAT
C
A
G
C
T
T
C
C
T
G
T
A
A
G
G
T
G
G
A
G
G
C
T
G
A
C
T
T
T
T
C
T
G
T
C
T
C
A
C
T
T
A
T
T
A
T
T
G
G
C
35350
T
G
A
A
C
A
T
A
C
A
G
A
A
T
T
T
G
G
T
C
T
T
C
T
G
C
T
T
C
A
C
C
A
A
C
T
T
A
C
C
T
G
A
A
T
G
T
A
C
C
35400
C
T
G
G
C
A
A
A
A
G
T
C
A
C
C
G
T
C
T
A
C
C
T
G
C
C
A
A
C
T
G
T
T
A
A
A
C
C
A
A
T
T
C
A
G
G
T
C
T
T
35450
C
C
A
T
T
C
C
T
G
A
G
C
C
C
A
T
T
T
C
C
T
G
C
A
G
T
T
G
A
T
A
A
A
G
T
T
G
A
C
C
A
C
T
C
C
C
T
C
C
T
35500
C
C
T
T
G
G
A
A
C
T
C
T
T
T
T
C
C
T
C
A
G
T
T
T
C
T
C
T
G
A
C
A
T
G
G
C
A
G
G
T
C
T
C
T
G
C
T
T
T
G
35550
A
T
T
C
C
T
A
C
C
T
C
T
C
T
C
T
G
T
T
C
A
T
T
T
G
T
A
G
T
C
T
T
C
A
C
T
G
T
G
G
G
C
T
C
A
T
C
C
T
A
35600
C
T
G
G
C
C
T
G
G
A
A
A
C
C
T
T
A
G
G
G
A
A
A
T
C
T
T
C
C
T
G
G
G
G
T
T
T
T
C
T
C
T
T
G
A
T
C
T
G
G
35650
T
C
A
G
T
G
C
T
C
C
T
C
T
C
A
C
T
T
T
G
C
A
G
G
C
C
C
T
C
C
T
T
C
A
G
T
G
A
T
G
C
T
C
A
T
G
A
C
T
C
35700
C
T
A
G
G
C
A
T
C
T
G
T
A
T
C
T
A
T
A
G
C
T
G
T
G
A
C
C
C
C
A
G
C
C
T
C
C
A
G
C
A
G
T
A
T
C
C
C
T
G
35750
C
A
C
T
T
A
T
A
C
A
T
C
C
T
A
C
T
A
C
C
T
A
C
C
T
G
T
G
G
G
T
C
T
A
T
A
C
T
C
G
A
G
T
C
T
T
G
C
A
G
35800
C
A
G
T
C
A
G
A
A
A
C
C
C
A
A
C
A
A
A
T
C
A
A
A
A
A
T
T
G
A
A
G
T
G
A
T
C
A
T
C
C
T
G
T
T
C
T
T
C
T
35850
C
T
C
T
C
T
T
G
C
T
T
C
C
C
T
A
A
A
C
C
A
A
C
T
G
T
T
G
T
T
A
T
A
G
T
A
T
A
T
T
C
C
A
T
A
T
C
A
G
C
35900
T
G
A
A
G
A
C
C
T
G
G
T
C
A
T
C
T
A
C
C
C
A
A
T
C
A
C
A
T
A
A
G
C
C
A
T
A
A
A
T
A
G
A
G
G
G
G
T
G
A
35950 |
var(35902):[:0.03]
|
var(35914):[G:0.39]
A
A
T
T
T
C
A
G
T
T
C
G
C
C
A
T
T
T
T
C
C
C
T
C
A
C
A
C
T
A
C
A
T
C
C
A
G
C
G
T
C
A
C
C
A
A
G
T
T
C
36000 |
var(35962):[A:0.36]
T
G
T
T
G
A
T
T
T
T
G
C
T
T
T
C
T
A
A
A
T
A
A
C
T
T
C
A
G
T TGGCTCCTTT CTTTTCCTGA
36050
CTCCTAACA
C
A
G
C
C
T
C
A
T
C
T
T
A
T
A
C
T
C
A
A
A
T
A
C
A
G
A
A
G
T
G
C
A
G
A
T
A
A
G
G
G
36100 |
REPEAT
G
T
A
T
C
T
G
G
A
C
A
C
A
A
C
A
T
T
C
C
A
C
A
C
C
T
C
T
C
T
C
A
A
C
T
G
T
C
T
A
G
T
A
T
T
C
A
A
G
A
36150
A
A
A
T
A
G
G
A
C
T
C
T
G
G
G
T
C
C
A
C
T
T
T
G
C
A
G
T
C
C
A
G
A
C
C
T
G
A
T
A
T
G
G
A
C
C
G
T
T
T
36200
T
A
C
A
C
A
C
A
G
C
C
C
T
G
C
T
T
T
C
C
T
C
T
G
A
G
C
C
T
A
T
C
A
A
C
G
A
T
C
T
G
C
C
T
T
A
T
T
T
A
36250 |
var(36236):[A:0.30]
A
T
A
T
T
A
A
C
C
T
A
A
A
C
T
T
A
C
C
C
C
A
A
A
T
C
C
T
A
T
A
A
C
T
C
T
G
C
C
T
T
T
T
C
C
T
T
T
G
T
36300 |
var(36294):[:0.01]
T
T
G
G
T
G
A
G
A
T
A
C
C
C
C
A
T
G
G
C
T
C
C
C
C
T
G
G
G
A
C
G
C
A
G
T
C
T
G
T
C
T
C
A
T
T
G
C
A
A
36350
T
G
G
A
T
C
A
A
T
A
A
A
C
C
T
A
A
T
T
T
T
A
T
T
A
C
A
C
T
A
C
A
G
G
T
A
T
A
T
T
C
C
T
G
G
A
A
G
T
C
36400
T
T
A
G
A
C
A
A
C
T
G
G
G
C
T
A
A
A
A
C
A
AA
A
A
T
A
T
T
C
A
A
C
A
T
C
C
A
T
T
C
T
T
A
A
T
T
A
T
T
36450 |
REPEAT
A
A
A
T
T
A
G
T
T
A
C
T
A
A
A
A
T
A
G
G
A
T
A
G
A
C
A
G
A
T
G
T
T
A
T
T
T
G
G
C
C
A
T
A
A
T
T
T
T
A
36500
T
A
T
A
C
A
T
G
T
A
A
A
C
A
A
A
A
G
C
T
A
A
T
A
C
A
T
A
C
C
T
A
A
T
G
A
T
G
A
A
G
A
A
A
C
A
G
A
A
G
36550
C
A
T
T
C
C
T
A
C
T
A
A
A
G
T
T
A
G
G
A
A
C
A
T
G
A
A
A
A
A
A
A
T
T
G
A
T
T
A
C
T
A
T
C
T
A
T
C
T
T
36600
A
T
T
T
T
A
C
A
G
T
G
T
T
T
T
A
G
A
A
C
A
G
G
T
G
G
C
C
A
A
T
C
C
A
A
T
T
A
T
A
C
A
A
G
A
A
A
A
A
T
36650
A
A
G
T
T
A
T
A
A
T
A
T
T
T
A
A
A
G
A
A
A
T
G
C
C
A
A
A
A
T
T
A
C
T
T
T
T
A
T
T
T
G
T
A
A
G
T
G
A
T
36700
TATACACCTA GGAAATCCAT GAGAACCAAA TAATAATAAA GTATTAT
G
G
C
36750 |
REPEAT
C
A
G
G
C
G
C
A
G
T
G
G
T
T
C
A
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
36800
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
36850
G
A
A
A
C
C
C
C
A
T
C
T
C
T
T
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
T
G
G
T
T
T
G
G
T
G
G
C
A
C
36900 |
var(36873):[C:0.01]
A
C
A
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
G
A
A
G
C
A
T
G
A
G
A
A
G
T
G
C
T
T
G
A
36950
T
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
G
T
C
G
C
A
C
C
A
G
A
G
C
A
C
T
C
C
A
37000
G
C
C
T
A
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
G
G
A
A
A
A
T
A
A
T
A
A
A
A
A
TAATAATA
37050
ATA
G
G
C
A
G
G
G
C
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
37100 |
REPEAT
C
A
A
G
T
C
G
G
G
C
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
T
T
G
A
C
A
A
C
37150 |
var(37111):[A:0.04]
A
T
G
G
A
G
A
A
A
C
T
C
C
A
T
C
T
C
T
A
C
T
T
A
A
A
A
T
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
A
G
T
G
G
37200
T
G
C
A
T
G
C
C
T
G
T
A
A
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
G
G
G
A
G
A
A
T
T
G
C
T
37250
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
A
G
T
T
G
T
G
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
A
C
C
A
T
T
G
C
A
C
T
37300
C
C
A
G
T
C
T
A