DTR 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
CAGGTGTGAT GAAAGTTTGG AGTTGCCCCA TGAATGGGAC TGAGGCTGAT
50
GTGGGGGTGA GAAGGCGGAA GGACAGAGCA TGTGAAGGGA GAAAGGCAGG
100
CTGGGGCAAG AGAGCAGGGT GTGACTCTGG CGAGGGTGGG GGAAAGGGGG
150
TGATTTGACC ATGTGTCAGG AAGTGTTTCT CTCCACCCTC CCCTGGGGAG
200
AGCCTTGACC CCAAGGTGGC TTTGTTTTGG GGAAGCAGGT GGCCAGGCAG
250
CTGCTGAGGG AGGGCAAAGT CATGGCTTGG G
C
GGTGACCA TGCACTGAGG
300 |
var(282):[T:0.01]
TCCTAGGCCC GATACT
C
ATC ACCCAAAAGG ATAATCTAAC AGTGGCTCTT
350 |
var(317):[G:0.01]
AGCCAAATAG GTGACAGGTG AGCTTCTGTC TGAAACCAGC CCAACTATAT
400
CATAAAGCCT CAGATATGGC CTAGGGGAAG GCAAGCGATC TAGAGAAGTG
450
AGAGAAAAGA GGCCTCTAAG GAAATAGAGT GGTCAAGTGC TTAGTGATTA
500
TTATTAACAG CAACAAT
A
A
T
A
A
T
G
G
G
T
C
A
C
A
T
T
T
A
T
T
G
A
G
A
G
C
T
T
A
T
A
G
T
550 |
REPEAT
G
T
G
C
C
T
G
G
C
A
C
T
A
T
A
C
T
A
A
C
T
A
C
T
T
T
T
A
T
G
T
G
T
T
C
C
C
G
C
A
T
T
C
A
T
T
T
C
T
C
600
A
A
A
A
A
G
C
T
C
C
C
T
A
C
A
A
A
G
T
A
G
T
C
A
T
T
A
T
T
A
T
T
A
T
T
G
T
T
A
T
T
A
T
T
T
T
T
T
C
C
650
A
T
T
T
G
A
G
A
G
A
C
G
T
C
A
A
A
A
C
T
G
A
G
G
C
T
C
A
G
T
G
A
A
A
T
T
A
A
G
T
T
T
C
T
T
G
T
C
C
A
700
A
G
G
T
C
A
C
A
C
A
G
T
A
A
G
T
A
G
C
A
A
A
G
G
C
A
G
G
A
T
T
C
A
A
A
C
T
C
A
G
G
T
C
T
G
T
A
G
T
G
750
A
T
T
C
C
A
G
TGC ACTATGGAAA CCTAGGCCTA G
G
TTACTGGA GCAAGTTAAG
800 |
var(782):[A:0.01]
AGGGCAGGGC CAGA
T
TGACC CCTGCAAAGG TGGGGATAGG GAGGGACAGT
850 |
var(815):[C:0.34]
GGGATAGACT GTGTATAAAT AGCAGGCCTG TTTTTATCCC TACACACAGG
900
CAGAATCCGG CAAGTGCTCT ATCTGGCACA ATTTCAGGGC TCTGAAAGCC
950
AACCCAGCCC TGTGTCAAAC AACTCTCTCC CCAGCACGTC CCTGGAAACT
1000
GAAATACCTA CTGAGACACT CATTTCTTTG GGTCAGGACA GTGACTCCAG
1050
AAGACCCCTG CAAAAGCACA TGGGTTGGAA GAGAAACACC TAGTGTCTGT
1100
GAAACAGCAA TCTAGGTTAG CCAGCTGGGT CCTATGGGAG GGTGGCTCAT
1150
TTTTTATGTT GAGGAAAAAG GTGGCAGTCA AAGGCAAGGA AAAGAATAAG
1200
GCTTGTTTCA CAACCTGTGT CTCTCCAATC TCAGAAGCCT GGGAATTACA
1250
ACCCATAGTT CAAAAATCCT AATGTCCCCT GAGGGAAGAT GGGAGGAAGC
1300
CACTCCAGAG ACTAAGAGAG TACTAACTTC CTTTGCTTTT GCTGGATTGA
1350
TACTAAGTGC CTGCAACTTC AACTCTGGTT ATCTCGGGTT TATGAGAACG
1400
GCTGGCATTC ACGTGTCTAA TTTTTAAATG ATA
A
ATGAAT TAATTATTAT
1450 |
var(1434):[G:0.45]
TTGATACTTG CCGTGTTGGT AGGCCAAAAG GTGGGCTTCT GAAACTTAGA
1500
GGGTGACAGG GATGGAGACC CCTGGTATGG GGCTTAGATG AAGCAAGAGG
1550
CCAGGCCCGG AACAGAACTC AGCTCAGCAG TCAGTCACAA GGCTGCAGAG
1600
TGACAGGCGT TTGGGGAAAG GTAGGAACCG CTCTCCGCCA CCTGCCGGTC
1650
AGTAGCCCTA CCCACAATCA GGCCGCGGCT GCCTCGGCCT GGTCCCAAAA
1700
ATTGTGAACG CCGCCCTCTC CTCCCGCCCA GTCCTCCGCC GCGCCCGCGG
1750
GGTCGGGGGC TGCGCTGCCG GCGCCGCGAG CC
G
GGCGAGC TTCCCAGCAC
1800 |
var(1783):[A:0.33]
GGGAGGAGGG AGGGGGCGGC GCCGGGCGGG GCGGAGCTTC CGCGCCTCCT
1850
GGAGCCTTAT TCCCGGCCGC GAGCCGGGCA GCGCTCATTC GGCCGAAGGA
1900
G
C
T
A
C
G
C
G
G
G
C
C
A
C
G
C
T
G
C
T
G
G
C
T
G
G
C
C
T
G
A
C
C
T
A
G
G
C
G
C
G
C
G
G
G
G
T
C
G
G
1950 | Exon 1 |
UTR
G
C
G
G
C
C
G
C
G
C
G
G
G
C
G
G
G
C
T
G
A
G
T
G
A
G
C
A
A
G
A
C
A
A
G
A
C
A
C
T
C
A
A
G
A
A
G
A
G
C
2000
G
A
G
C
T
G
C
G
C
C
T
G
G
G
T
C
C
C
G
G
C
C
A
G
G
C
T
T
G
C
A
C
G
C
A
G
A
G
G
C
G
G
G
C
G
G
C
A
G
A
2050
C
G
G
T
G
C
C
C
G
G
C
G
G
A
A
T
C
T
C
C
T
G
A
G
C
T
C
C
G
C
C
G
C
C
C
A
G
C
T
C
T
G
G
T
G
C
C
A
G
C
2100
G
C
C
C
A
G
T
G
G
C
C
G
C
C
G
C
T
T
C
G
A
A
A
G
T
G
A
C
T
G
G
T
G
C
C
T
C
G
C
C
G
C
C
T
C
C
T
C
T
C
2150 |
var(2114):[T:0.04]
G
G
T
G
C
G
G
G
A
C
C
A
T
G
A
A
G
C
T
G
C
T
G
C
C
G
T
C
G
G
T
G
G
T
G
C
T
G
A
A
G
C
T
C
T
T
T
C
T
G
2200
M K L L P S V V L K L F L 13
G
C
T
G
C
A
G
GTA AGAGGGCTGC CGACGCCCCC GGAGATCGGG GGGATGGGGG
2250
A A 15
GCGTTGTGCT GGGGGCATGG GGGAAGGTCG CCGCAGCGCA CCCGGCACGG
2300
GCCACTTGGT GGGGCCCTTG CGCTCTGGCG GACGGGCGTC GGCATCGGTG
2350
CGTGTTGGTC AGGGGTCTGG GCGGGTGTCT GATGCGGCCT GGCCTCTCGC
2400
CCGCAG
T
T
C
T
C
T
C
G
G
C
A
C
T
G
G
T
G
A
C
T
G
G
C
G
A
G
A
G
C
C
T
G
G
A
G
C
G
G
C
T
T
C
G
G
2450 | Exon 2
V L S A L V T G E S L E R L R 30
A
G
A
G
G
G
C
T
A
G
C
T
G
C
T
G
G
A
A
C
C
A
G
C
A
A
C
C
C
G
G
A
C
C
C
T
C
C
C
A
C
T
G
T
A
T
C
C
A
C
2500
R G L A A G T S N P D P P T V S T 47
G
G
A
C
C
A
G
C
T
G
C
T
A
C
C
C
C
T
A
G
G
A
G
G
C
G
G
C
C
G
G
G
A
C
C
G
G
A
A
A
G
T
C
C
G
T
G
A
C
T
2550
D Q L L P L G G G R D R K V R D 63
T
G
C
A
A
G
A
G
G
C
A
G
A
T
C
T
G
G
A
C
C
T
T
T
T
G
A
G
A
G
GTGGGTGTGG AGGCCCCCCA
2600
L Q E A D L D L L R 73
TCCTTGGACC TTGGTGGGCT GTTGAAGAAT AAGCAGATCC AAGATTCTTG
2650
CTGTTTGGGC AATACTGTGG GTTGAGGGTA TTCATGGAGA ACCTCGGGGA
2700
AAAGCTGATC GGCCTGATGG GCACTGGGGG ATCCTGGAAT ATAGGTCCCA
2750
CTCTCTCTCT CTTGTCATTG CCTCACCTGC TGGGTTGCTG CCCTTCTGGG
2800
TACTCCGGGG CAAATTGAAT CAGACGTGTT GTCTGGGGTT GTTACGTTCT
2850
TCTTAGGTAA GCTGGGTGAT AGGAACAAGG AATGGTTGAG ATGCTTTCCC
2900
TAGAGCTACT ATGTAAAAAT GGGCGCCAGT TCTAATTCCC ATATCAAATG
2950
ACTATTATAT ATAAAATAGA GGTAACACAT GCGGAGATGC CCAGGCACAT
3000
CTCTAGAAAG TGTGCAGTGT TGGCCTCCTC CATCCACCTG TCTCCAGATT
3050
GGGGAAACAG AGGGGAATGA GGAGCTCTTG GCCGC
C
CTAG ATGAGGCTGT
3100 |
var(3086):[T:0.01]
GAATGGTGAG CACTGAGCCC CTAGG
G
GGCT GTATTAAAAT GCTGGATATC
3150 |
var(3126):[A:0.01]
TGTGAATGCT ACCGGAAACC TGCAGCTTAC TGAGCACCTT GCATTCCTGA
3200
GGAGACTCCA AATGGGGAGG GCTGTGTAGG ATCCTCCAAC CAGCCTCTTT
3250
GGCTGTGGCC AAGTACAGGT ACAGGGCAGA GTCCAGAGCC TG
C
CAGCTCT
3300 |
var(3293):[T:0.01]
CCTGCCT
C
CA AACCTGAGGA GATTATCCAG AGTAGAGCAA GGACTCAGCA
3350 |
var(3308):[T:0.01]
CTGTACCCTG GAATGACTAT ATTTGGTTGG ACAGATGCCC AC
C
TGTTCTA
3400 |
var(3393):[T:0.01]
GTTCCACCTG CTCCTCAGCT GCCCTTCTCC CTCATTCCCA GGAGCTTTCC
3450
TTGGATACTC TCTCTACTTT GTATAAATCA AGCACATACT CCAAAACTGA
3500
GCCTGGGCTC CCATACTTCA TCCTCTCCCA GTGGCCCTCT GGGGTTGCCC
3550
ATGACCTGAA CAGCCTGGAT TCTCCTGGCC CTCTCCTCCT AGGCTGGGCA
3600
GGGCTGGGCT GTGACTCACC CCACCCCCAC CCCCCACCCA CACGGCTGCT
3650
CCTCTTACCT CTGCAGACCT GACTCACTGC TCCCTGTCCA TGGCAGGAGC
3700
CTGGCTGTCA CCCTGCACCT TCTCCCTCCC CTTTCTGATT GGCTTGGCCC
3750
CCCT
T
GCCTT GCTCTCCCCG AAGCTCTGGT CACTGGGTTC CTCTGACCAC
3800 |
var(3755):[-:0.99]
CTGTATCACC TTCTGAGCTC TGAGGGGGCC TGGGACTGGA TGAGAGGAAA
3850
TGAAAGACTG TGGGGGCTGC TGGCACCTAC TTCTCTTCCC TTCTTTTGGC
3900
TTTGCTGGGC AAGGACTATT TTTCAGGTCT GGGGATCCTA CCACCTAAAA
3950
TA
A
A
T
G
A
C
T
G
C
T
A
C
C
A
T
T
T
A
T
T
A
A
A
T
T
C
C
T
A
C
T
G
T
G
T
T
C
T
A
G
G
C
A
C
T
T
G
A
4000 |
REPEAT
T
A
T
G
T
T
A
T
C
C
T
G
G
C
T
A
A
T
G
T
A
A
C
A
C
T
T
A
T
A
G
C
A
A
C
C
T
T
T
T
G
A
G
A
T
A
G
T
T
A
4050
C
T
T
T
G
G
C
T
A
T
C
C
A
C
A
T
T
T
T
A
C
T
G
A
G
A
A
C
C
T
G
A
G
G
T
T
C
A
G
A
G
G
A
G
T
T
A
A
G
T
4100 |
var(4059):[C:0.01]
|
var(4067):[-:0.02]
G
A
C
T
G
C
C
C
A
C
A
G
T
A
A
A
T
A
G
C
T
G
A
A
A
T
T
G
G
A
G
C
A
C
A
G
G
T
C
T
A
T
G
G
A
C
T
T
C
A
4150
G
A
G
C
C
C
A
T
TC ATGCCTGGAT CAGCATCTCA GGTGCTCTAG ACTTGTGAGA
4200
GGGA
G
G
A
G
A
A
T
G
G
G
A
G
T
G
T
G
T
G
A
G
G
C
A
G
C
T
T
G
G
T
G
T
G
G
T
G
A
G
G
A
A
G
G
A
C
A
4250 |
NOT SCANNED
|
REPEAT
T
T
G
G
A
G
T
G
A
A
G
T
C
C
A
G
A
G
A
A
C
A
C
A
G
T
T
C
T
A
A
T
C
C
C
A
A
T
C
C
T
G
C
A
T
G
A
C
C
T
4300
T
G
A
G
T
A
A
G
T
C
A
C
T
C
T
G
C
C
T
G CCATGAG
T
T
T
T
T
T
C
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
4350 |
REPEAT
T
T
T
T
T
T
A
A
A
C
A
T
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
A
C
4400
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
T
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
4450 |
var(4406):[T:0.01]
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
C
G
A
T
A
A
C
A
G
G
C
A
C
A
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
4500 |
var(4494):[T:0.01]
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
T
G
T
A
G
A
G
A
T
G
A
G
A
T
T
T
T
T
G
C
C
A
T
G
T
T
G
G
C
A
A
G
G
4550
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
C
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
4600
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
T
G
G
C
C
A
C
A
T
G
G
T
A
T
T
C
T
4650 |
NOT SCANNED
T
T
G
A
A
G
T
C
C
C
T
C
T
A
G
C
T
T
G
A
G
A
C
T
C
T
A
A
G
T
C
T
C
T
A
G
T
C
T
A
A
C
G
T
A
T
C
A
T
G
4700
C
T
T
A
C
C
C
T
T
C
T
G
T
A
A
G
A
C
A
C
A
T
G
G
C
T
G
T
A
G
C
C
A
T
G
G
A
T
G
T
G
G
G
C
A
C
C
T
T
T
4750
T
T
C
C
T
G
A
T
G
G
G
G
G
A
T
A
A
A
A
G
G
G
T
G
G
G
A
T
T
G
G
G
C
T
G
A
T
A
G
G
C
A
T
A
G
T
C
C
C
T
4800
G
G
T
C
A
A
T
C
C
C
A
G
C
T
G
G
A
T
A
T
C
T
G
G
G
T
G
A
G
G
C
T
G
T
T
T
T
T
C
C
C
C
C
A
G
T
C
T
C
T
4850
C
T
G
A
A
G
C
A
T
G
G
A
A
A
G
A
A
G
G
A
G
G
G
A
G
T
C
A
T
C
A
T
T
G
T
T
C
C
A
G
T
T
C
C
T
T
C
T
G
G
4900
A
C
A
G
T
T
C
C
T
T
A
C
T
T
T
C
C
A
T
T
T
T
T
C
T
A
T
C
C
C
T
T
G
T
A
C
A
C
C
C
T
G
T
A
C
C
C
C
C
C
4950
A
A
T
C
C
A
G
A
G
A
G
C
T
A
T
A
A
A
C
A
G
G
A
C
A
T
T
G
G
G
G
G
T
T
A
A
A
T
A
T
G
A
A
T
G
A
A
T
C
T
5000
T
T
G
A
G
A
A
A
G
T
G
G
G
T
G
A
G
C
T
G
T
A
A
A
G
G
G
T
A
T
G
C
A
A
G
T
T
A
A
A
T
A
T
T
T
T
G
C
T
T
5050
G
A
A
G
T
T
G
A
A
A
A
A
G
C
A
A
G
G
C
C
G
T
G
A
C
C
A
G
G
G
C
T
G
G
C
C
T
G
C
T
T
G
C
T
G
T
T
C
C
T
5100
G
A
G
C
C
A
G
G
C
T
C
T
G
C
C
C
T
G
G
G
C
T
C
A
T
A
G
T
A
C
T
A
A
G
G
G
G
T
G
C
C
C
C
A
G
A
A
G
A
G
5150
A
C
C
A
C
C
T
G
A
A
C
A
C
A
T
G
G
A
C
A
C
T
G
T
T
C
T
T
A
T
A
T
T
A
G
G
A
G
C
C
C
T
C
C
A
A
C
C
C
C
5200
A
G
A
A
C
C
T
C
C
A
A
G
T
A
C
C
T
T
C
T
C
T
A
G
A
A
G
C
A
A
T
T
T
T
T
G
T
G
T
G
T
G
A
C
A
C
T
G
T
C
5250
T
T
T
C
T
G
C
A
A
G
T
G
G
T
T
C
A
C
T
G
A
G
T
A
C
A
G
C
A
T
C
A
G
G
A
A
A
T
G
A
G
G
C
T
G
A
T
T
G
A
5300
A
G
G
C
C
A
A
A
A
T
A
G
A
A
T
G
A
A
G
T
G
G
G
T
G
T
G
G
G
G
G
A
G
T
A
G
G
A
G
A
T
G
G
G
G
G
T
G
T
A
5350
A
G
G
T
G
G
A
C
A
G
T
G
G
G
G
T
G
G
A
G
G
T
G
A
G
G
T
T
G
G
T
A
G
A
A
T
T
G
C
C
C
A
G
T
T
A
C
T
C
A
5400
A
C
A
A
A
A
G
C
A
T
T
C
T
G
A
G
A
A
T
G
A
G
G
C
T
C
T
T
A
C
A
C
A
G
A
G
A
C
T
G
T
G
A
A
A
T
G
C
C
T
5450
T
C
C
T
T
G
G
G
A
C
C
C
A
C
C
C
T
A
G
C
T
T
C
T
A
C
TTCC TACCGAGGTT CCCTCTTTCT
5500
GGTGGTTCTG CCCAATCTTC CTGCTCTTCC TTCTGCCTCT TAGGAGGCAC
5550
TGAGCTAAGG GGCCTTCCCA GATCTCTGAC TTCAGGTGGA ATCAAAGCAT
5600
ATATACTCCT TTCAAGCACT ATGCTCTTCT GATTTTCTTC CCAAAGAGTC
5650
AGACTTTAAC AGAGTGCTTT TCTCCTACAG
T
C
A
C
T
T
T
A
T
C
C
T
C
C
A
A
G
C
C
A
5700 | Exon 3
V T L S S K P 80
C
A
A
G
C
A
C
T
G
G
C
C
A
C
A
C
C
A
A
A
C
A
A
G
G
A
G
G
A
G
C
A
C
G
G
G
A
A
A
A
G
A
A
A
G
A
A
G
A
A
5750 |
var(5733):[T:0.12]
Q A L A T P N K E E H G K R K K K 97
A
G
G
C
A
A
G
G
G
G
C
T
A
G
G
G
A
A
G
A
A
G
A
G
G
G
A
C
C
C
A
T
G
T
C
T
T
C
G
G
A
A
A
T
A
C
A
A
G
G
5800
G K G L G K K R D P C L R K Y K 113
A
C
T
T
C
T
G
C
A
T
C
C
A
T
G
G
A
G
A
A
T
G
C
A
A
A
T
A
T
G
T
G
A
A
G
G
A
G
C
T
C
C
G
G
G
C
T
C
C
C
5850
D F C I H G E C K Y V K E L R A P 130
T
C
C
T
G
C
A
T
GT AAGTGCCCCT TCCCCAGGGC TGAATCTCAT CAGCACACTT
5900
S C I 133
TGTCAGCCAC GTGGCTGTTC CTCGTTGTCA CTGTTCCTTG AATTCATAAT
5950
TTCACCCAGT TTCTTCTCAA CCTCTGGGCG GAAGTTGGGA GGAGGGGAAA
6000
TATATTTTTA GTCAGCGGAA GCCCCCTCCC CCCTATAGGA TGCAATTTCC
6050
TGTGGTATGG TTTTGTGACG TGCTTTAATC CTTGGGGAC
A
TTTCCTGCTT
6100 |
var(6090):[G:0.02]
GCCCAGAAAT GAGCATGTGG CTAGGACAGC TGGCACCTGA AGGCAGGCCC
6150
TTAATTCTTG CCTG
A
TGCCC TACTCTGGGA GGGAGAAGCC AGTAGGAAAC
6200 |
var(6165):[T:0.34]
ATGGCAGAGT GGGCTTCCAG GGCAGAGTAG AGCTCCTGTG GGAAGGTAGG
6250
AAGTGCATTT GGATGCATG
A
TGTATAGGTA TGTGTGTATT TGGGTTTATG
6300 |
var(6270):[T:0.34]
TGCATGTAAG TGTGCAAATG TGGATTGACT GTGAGGCATG GCAGGACTGT
6350
ACAGAGAGGG ATCATCATGG CGGCAG
G
TTG AGGCCTCTCT TTCTTCTTCC
6400 |
var(6377):[A:0.33]
TTATCCCAGC AAGGACGAGG AGGTGGGAGA CATGGAGAGT ACTGGCCTTT
6450
GGCCACGTTG TGAGAGAACA ATTCCTTTGT GCAGGGTTCA CAGGAAATGG
6500
AACCTGACCC ATTAGGCATC AGCCCCC
G
GT CAGGCAACAT CACCCCTTCC
6550 |
var(6528):[A:0.02]
CTGGGTAGGT GTGTGGGTGG AGGGGCTGTG GGTTCCTTAG CCTCTCTCCT
6600
AAGCCAAACC CAGCAAACG
G
CTGCCTTGGC AACCCCTCAG GGATGACAGC
6650 |
var(6620):[T:0.33]
ACTGCCATGC TCTCTGGCAG GCATAATGTT GCCACTGTGC CTGAGGCCAA
6700
CACCCTGC
G
T CAGGCTGCAA ACATCC
A
TTC CCTTCCCTGT GGGGAGG
G
AG
6750 |
var(6709):[A:0.01]
|
var(6727):[G:0.33]
|
var(6748):[C:0.33]
GCTCTGGGGG CCTTAGTGGG AGACTCTGGA CAGGGCCAAG AGACTGTTGT
6800
ATGCACACTG CCTCCAGCCT GTCAAGAAGG
C
GGCGTGCCT GGCATCCCTT
6850 |
var(6831):[T:0.01]
CTACTGGTGA TTGGTGCAGA TCCCTTAGCT TTTTAAAGCT TCCTTGTTTT
6900
GTCTGATCAC ACACAGCAGA GCTGCCCTGT ATTTGGCAGT TGGCAGACAG
6950
ACCCATCACT CCCCACCATG TCCACAGTCA CTTGTGCATC CTTTCCTATA
7000
ACATCCTTGT CAGGAGCTTG GTATTAGAGG GAGTTGTTTA AGAGTGGCAT
7050
AGAAAGCCCC CATATTATCC TTCCCAAGGT CTTGGGACAG GGTGGGAAAT
7100
GTTCATCTTA AATTTGTAAA ATGGCATCAT TAGTACAGGG TGAAGAAGGT
7150
GACTCAAGTA GTCAAGGTGG ATTGAGGTCA GGAATCTGTC TATACCAGAT
7200
TGGTCCTGGG CATTTTGGTG GATGGATGTG GGGCTTGCAC TGTGTG
G
TTG
7250 |
var(7247):[A:0.33]
AGAGGCCTTA TAAGGTTGCC CTCCTGGAGA GCTGGACTCG GATGACCACC
7300
TAAACCCAGA GAACCTGATA TGGGTGCCCA GGCCACCTTC CCAGTGGTCC
7350
CTAGGGATAG TGATAACTAT AATGATGTCA TATCTCCTTT GTCCCAGAGT
7400
TTCAGTGTTT ATATATAATA TGAGTTGA
G
C
CCAAGTA
T
G
T
T
G
A
G
C
C
C
C
T
A
7450 |
var(7429):[A:0.01]
|
var(7430):[G:0.01]
|
REPEAT
T
T
T
G
G
T
G
G
C
A
G
A
C
A
C
T
A
C
T
T
T
A
G
G
A
G
C
T
G
G
A
G
A
G
A
T
A
T
A
G
T
T
T
C
C
T
G
G
G
A
7500
T
T
T
T
T
C
A
A
A
A
G
C
C
C
T
C
T
G
C
T
G
A
G
T
A
G
G
C
A
G
G
A
C
T
T
G
G
T
A
C
C
T
C
T
A
C
T
T
G
A
7550 |
var(7546):[G:0.01]
A
A
G
G
T
G
A
T
G
A
A
A
C
T
G
G
A
G
C
C
A
G
A
A
A
A
T
A
G
G
A
A
G
T
A
A
T
T
T
G
C
C
T
G
A
G
G
T
C
A
7600
A
T
A
G
C
T
A
A
A
T
A
A
G
T
A
G
T
T
G
G
A
A
A
T
A
A
G
A
C
A
G
A
G
T
C
T
C
A
G
T
A
C
C
T
G
A
C
T
C
C
7650 |
NOT SCANNED
T
A
G
T
C
C
A
A
C
A
T
G
C
T
T
T
T
C
A
T
G
C
C
C
T
C
A
A
G
C
T
G
T
A
C
T
G
G
G
T
G
T
T
G
G
C
T
T
T
C
7700
A
T
C
T
T
T
C
T
T
T
C
C
T
G
T
A
T
C
T
G
T
C
C
T
T
A
T
A
G
A
G
T
T
G
G
A
G
C
A
G
C
A
T
T
T
T
A
T
A
G
7750
A
G
G
G
C
A
G
A
G
G
G
C
A
G
C
T
G
T
T
G
T
C
C
T
A
G
A
G
G
T
C
T
C
T
T
A
T
T
C
T
T
T
T
A
C
T
A
G
T
C
7800
T
A
A
C
A
G
C
A
C
A
G
C
A
A
T
C
T
G
A
T
T
T
G
A
A
A
A
C
T
T
T
A
C
A
T
T
A
A
C
T
T
C
T
T
G
G
G
C
A
G
7850
A
A
T
T
T
T
C
T
T
T
T
T
C
T
T
T
G
T
T
C
T
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
7900 |
REPEAT
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
C
T
C
C
C
A
T
G
C
T
G
G
G
G
T
G
C
A
G
T
7950
G
G
T
G
T
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
8000
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
A
A
G
T
G
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
C
T
G
C
C
A
C
C
A
T
G
8050
C
C
G
A
A
T
T
A
A
T
A
A
T
T
T
T
T
A
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
T
A
G
T
T
T
T
G
C
C
G
T
G
T
T
8100 |
var(8087):[G:0.34]
|
var(8095):[T:0.15]
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
T
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
A
G
C
8150 |
NOT SCANNED
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
T
A
T
C
T
A
G
C
C
T
T
T
T
T
8200 |
REPEAT
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
A
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
A
C
8250
A
C
A
A
T
C
T
C
G
G
C
T
C
T
C
T
G
C
A
G
C
C
T
C
C
G
C
C
T
C
C
C
A
G
A
T
T
A
A
A
G
T
G
A
T
T
T
T
C
C
8300
T
G
C
T
T
C
A
G
C
C
T
C
C
T
G
A
G
C
A
G
C
T
G
G
T
A
T
T
A
C
A
G
G
C
A
C
A
T
G
C
C
C
C
C
A
C
A
T
C
T
8350
G
G
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
T
T
G
T
G
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
8400
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
A
A
C
C
T
C
A
A
G
T
A
A
T
C
A
G
C
C
T
G
C
C
T
T
G
G
A
C
T
C
C
C
A
A
8450
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
G
G
C
C
A
C
C
A
C
T
T
C
C
T
G
G
G
C
A
G
A
T
T
T
T
C
A
G
G
8500
G
G
G
T
T
G
A
T
T
G
C
A
T
G
T
C
T
G
G
A
C
T
G
G
C
C
C
C
C
T
A
C
T
G
C
C
T
C
C
T
G
C
C
C
T
T
G
C
T
A
8550
C
T
C
A
G
G
G
C
A
G
A
A
A
G
C
A
G
C
A
A
G
A
A
G
A
C
A
G
A
A
A
T
C
C
T
G
G
T
T
T
G
G
G
G
G
A
A
T
G
T
8600
G
A
C
A
T
C
T
G
T
G
C
A
C
G
T
T
C
A
T
C
T
G
G
G
G
A
T
C
T
T
T
G
T
G
G
C
T
C
T
T
G
T
T
T
G
A
C
T
C
C
8650
A
G
A
C
C
C
A
G
G
A
A
C
C
A
C
T
A
G
C
C
A
G
G
G
T
G
T
G
T
C
C
A
G
G
C
T
G
C
T
G
T
G
G
T
G
A
G
C
C
T
8700
G
A
G
G
C
T
A
G
C
T
G
G
C
T
T
C
C
T
A
A
A
C
T
A
G
C
C
C
T
C
T
G
C
A
G
C
C
A
C
C
A
T
G
A
A
C
A
G
G
A
8750
A
A
A
C
C
C
T
T
T
T
T
G
T
G
T
C
A
C
C
A
G
C
C
A
A
A
A
G
T
T
G
C
C
C
T
C
A
A
A
G
A
G
T
A
G
T
T
T
C
T
8800
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
A
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
8850 |
REPEAT
G
C
A
C
G
T
G
G
G
T
C
G
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
A
8900
G
A
G
A
A
A
C
C
C
C
C
G
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
T
G
T
T
G
T
G
G
8950
C
G
G
G
C
G
C
C
T
G
T
A
A
T
C
T
C
A
G
C
T
A
C
T
A
G
A
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
T
C
T
9000
C
A
A
A
C
C
C
A
G
G
A
G
G
C
A
G
A
A
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
A
G
T
G
C
C
A
T
T
G
C
A
C
T
9050
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
T
A
A
T
A
A
T
A
A
T
9100
A
A
A
T
A
A
A
T
A
A
A
A
G
A
G
T
A
G
T
T
T
C
C
T
G
G
G
A
T
T
C
C
T
G
A
C
T
A
G
T
T
G
C
C
T
A
C
C
C
A
9150
G
A
A
A
T
T
G
G
C
T
G
C
A
G
A
G
T
T
T
C
C
T
G
T
G
G
C
T
G
G
A
G
G
A
A
A
A
C
T
G
G
G
G
A
C
A
C
T
T
G
9200
G
G
C
T
G
A
G
G
A
G
G
A
C
T
C
A
G
A
G
C
T
G
G
A
G
G
A
G
A
G
A
C
A
G
G
C
T
A
G
G
G
G
G
C
T
C
T
A
C
T
9250
T
G
G
C
C
T
C
A
C
T
G
C
C
C
A
G
G
T
G
C
T
A
A
G
A
A
G
G
A
A
T
G
G
T
G
A
T
C
C
C
G
C
T
T
C
T
C
T
T
G
9300
T
C
T
C
C
A
T
C
T
G
A
C
T
T
G
G
G
T
G
C
C
C
C
A
T
T
C
C
T
C
A
G
G
C
C
A
T
G
G
G
C
A
G
T
A
A
C
C
T
C
9350
T
G
G
A
G
T
C
T
G
A
T
T
A
T
G
T
A
A
T
A
A
C
T
C
A
C
A
C
A
A
T
G
T
G
G
G
A
C
T
T
G
G
C
C
T
T
T
A
T
A
9400
A
A
G
C
C
C
T
T
T
C
A
T
T
T
G
T
A
T
T
A
C
C
T
C
A
T
T
T
T
A
T
C
T
T
T
T
C
A
C
A
A
T
A
C
T
C
T
A
G
T
9450 |
REPEAT
G
A
A
G
T
A
G
G
C
A
T
T
T
C
T
T
A
T
C
C
C
T
G
T
G
T
T
T
T
A
C
A
T
G
A
G
G
A
A
A
C
C
A
A
T
G
T
T
T
A
9500
G
A
A
A
G
G
T
A
A
C
G
T
G
A
C
T
T
G
C
C
C
A
A
A
A
T
T
A
C
C
T
G
G
C
T
A
G
A
A
A
T
A
G
C
A
G
C
A
G
A
9550
A
C
C
A
G
T
C
T
G
G
A
A
C
T
C
A
T
G
C
A
C
T
C
A
G
T
C
T
C
C
T
C
C
A
T
C
C
A
G
A
C
G
T
G
T
C
C
C
C
T
9600
C
C
A
C
C
T
C
C
T
G
G
G
G
T
A
A
A
G
G
T
G
G
A
G
A
A
A
T
C
C
A
G
T
T
T
G
G
A
A
G
A
T
G
T
C
T
C
T
G
G
9650
A
C
C
C
T
A
G
A
G
G
G
T
T
C
T
T
G
C
A
T
C
T
G
T
T
G
T
A
A
T
A
C
A
A
G
T
T
C
T
G
A
A
A
T
G
G
G
T
C
A
9700
C
A
G
A
C
G
T
G
G
G
T
G
G
G
A
A
G
A
A
T
G
T
G
T
C
C
T
A
G
T
C
T
G
G
T
G
G
G
T
G
G
C
T
G
G
C
T
C
T
G
9750
G
A
C
A
A
G
A
C
A
C
A
A
A
A
T
T
T
T
G
C
C
C
C
T
A
C
C
C
T
G
G
G
A
T
G
C
T
T
G
G
A
A
T
G
T
A
C
T
C
A
9800
T
C
C
C
C
C
C
T
C
C
T
T
C
T
C
T
G
G
G
G
A
A
G
C
C
A
G
G
A
G
T
T
G
T
C
T
G
C
A
A
A
G
G
G
AGGGGG
9850
AGGTAGGTAA TATTAGGATG TTTACATTAT TATCCTTTTG ACTCAGGGT
G
9900 |
var(9900):[C:0.14]
GGGGTGGAGG GATTATGTAA CTGAATTG
C
G GGACTCTGAG GCCAAACTTT
9950 |
var(9929):[T:0.01]
ATTTCTATCT TCTGAGTAAC TACCTGTGGA GTTTGAATGA TGGACTGGAA
10000
GTGAAAAACA GACTCAACTT CAG
C
TTCCCT CCTCCCAGG
A
A
A
G
C
A
A
A
G
T
C
10050 |
var(10024):[T:0.03]
|
REPEAT
T
C
T
G
A
A
G
T
C
A
T
C
C
A
G
A
C
T
G
C
T
G
T
T
G
A
A
T
C
C
T
G
G
C
T
C
T
A
C
G
A
C
T
C
A
C
T
A
G
C
10100
T
T
T
G
T
A
A
C
C
T
T
G
G
G
C
G
A
G
G
T
G
T
T
T
A
A
C
A
A
A
A
G
C
T
A
A
G
C
C
T
C
A
G
T
C
C
A
T
C
T
10150
T
T
A
A
A
A
T
G
G
G
G
C
T
A
G
T
A
A
C
T
T
C
T
C
C
T
T
C
A
C
A
G
A
G
C
T
G
G
C
T
T
T
A
A
A
T
G
A
A
A
10200
T
A
A
T
T
C
T
T
G
T
A
A
A
G
C
A
G
T
T
A
G
C
A
C
A
A
A
G
T
A
C
T
T
G
G
C
T
C
A
T
G
G
T
A
A
G
C
C
T
T
10250
C
A
A
T
G
A
T
T
G
C
T
A
A
T
T
A
T
T
A
T
T
CTTTATTAT TCAAGTTATG AGTAATAAAT
10300
AATAATAACA TAGTCAGAGA GAAGGGTCAG ACTGCCCCCC AGGAGCCTAT
10350
CAGATATGCT TCCTTGGAGT TACCTGCGCT ATCCTGCATT GTTCAA
A
G
T
G
10400 |
REPEAT
G
A
A
G
G
A
A
T
G
A
T
G
A
A
T
T
T
G
G
A
A
T
C
T
G
C
C
A
A
G
A
C
T
T
G
T
T
C
C
T
A
G
T
C
T
T
A
G
C
C
10450
C
T
G
C
T
G
C
T
T
C
C
T
A
G
T
T
G
T
G
C
C
A
C
T
T
T
T
G
G
T
G
A
A
T
C
A
C
T
T
A
A
T
T
T
C
T
C
T
G
A
10500
C
C
C
T
T
A
A
T
C
T
T
A
G
C
T
T
T
T
C
C
A
T
C
T
G
T
A
A
T
A
T
G
G
G
G
T
T
G
T
A
C
C
T
G
C
C
T
A
C
C
10550
A
G
A
A
T
G
T
T
A
G
G
A
G
G
C
T
C
A
G
T
T
G
A
G
C
T
A
G
T
A
G
A
T
A
A
G
G
C
T
A
G
T
G
G
C
T
T
G
T
G
10600
A
A
T
G
G
T
A
A
A
C
TGCTGTGCAC AAGTGATTTT CCAGGGGTGC TTGTGCAAGT
10650
GTCCTCTATG TCCTGGCAGG ATAGGGGTCG CTTTTAGGCC TACATGGGCT
10700
GATGGGACAG ATACATGGAG AGGCTGGGCA AGGAACTGTG GACTGTGCTA
10750
TACGTATAGT GGGCCT
G
ACC TACATTTATC CTGCTGTGAG GTGGTTTCTC
10800 |
var(10767):[T:0.01]
GAAGTACCCA GGAGGAACTA GGGCAGGGAG AGGCTCAGGG CAGGAAAGCA
10850
AGAATGCAGT ACCACCCAGC CTGGCCCCTC TGCCACTGCT G
G
TTGTGGAC
10900 |
var(10892):[A:0.01]
AAGTCTGTCT CTTGGAGCTT CCCTGGTGCT CTGTCCGCAG GAAGAAGGGA
10950
TTCCTTGTTC TGAGGTACCA GAGAAAGCAC CTCCTTCCCA GAGAAAGCAC
11000
AGCTCAGAAA AGAGGGCCAC CAGGTTCTTG GTGCTTCCTT CAGCAGCTGG
11050
TGGTCTAAAG TCCTCAGGCA GACAGTGCCA CTGTGCCCC
C
TGGCTGGATG
11100 |
var(11090):[G:0.19]
GTAGGCAGTT GTCAGGTG
T
G
A
G
T
G
G
G
C
A
G
C
A
C
A
C
T
G
A
G
C
T
C
A
G
A
G
T
C
A
G
A
11150 |
REPEAT
C
A
A
T
C
T
A
C
A
T
C
T
A
C
A
T
C
T
T
C
A
T
T
T
C
T
G
T
C
T
T
A
C
T
G
T
G
T
G
A
C
C
T
T
G
G
G
A
A
A
11200
A
C
C
A
C
T
C
C
A
C
C
T
T
T
C
T
G
TAA AACAGGGCTC CTACTTATAT CAAAGGATCT
11250
CTGGGAT
G
CT CAGATAAAGG AAAG
G
A
T
G
T
G
A
A
T
G
T
G
C
T
T
C
T
T
C
A
A
C
T
G
T
A
11300 |
var(11258):[A:0.02]
|
NOT SCANNED
A
G
C
A
C
G
T
C
T
G
A
G
T
C
T
T
T
C
T
A
A
G
A
G
C
T
T
C
A
A
G
G
A
A
A
T
G
C
T
T
T
G
T
G
T
T
A
G
A
A
11350
A
A
G
G
C
A
G
T
T
G
C
C
A
G
C
C
C
G
G
T
G
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
T
T
G
C
A
C
A
11400 |
REPEAT
T
T
G
G
G
A
G
G
C
A
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
G
A
G
T
T
T
G
A
G
A
C
C
A
G
11450
C
C
T
A
G
T
T
A
A
C
A
T
G
G
T
G
A
A
A
C
T
C
C
G
T
C
T
C
T
T
C
T
A
A
A
A
A
A
T
T
A
C
A
A
A
A
A
T
T
A
11500
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
G
G
11550
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
T
C
C
G
G
A
G
G
T
A
G
G
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
11600
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
A
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
11650
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
A
G
G
C
A
G
T
T
G
C
C
A
T
G
T
G
A
T
T
T
11700 |
NOT SCANNED
A
T
T
T
C
T
T
G
A
G
T
G
A
G
A
A
G
A
G
C
C
A
A
G
G
G
A
T
T
G
T
T
T
C
T
G
A
C
A
G
T
C
T
T
C
C
A
T
G
C
11750
T
C
T
G
G
C
A
G
G
G
C
A
G
C
T
G
G
G
C
A
G
A
A
A
G
A
T
G
T
T
T
C
T
T
G
A
T
T
T
G
T
T
T
G
G
T
T
T
G
T
11800
C
C
T
G
T
G
A
T
G
A
A
A
G
A
G
G
C
C
T
G
G
T
A
G
C
T
C
A
G
C
G
T
G
C
A
G
A
G
G
C
C
A
A
A
G
G
C
C
A
G
11850
A
G
T
T
G
A
G
C
T
C
C
C
A
A
G
T
T
G
G
G
C
C
C
T
G
C
A
C
C
C
A
G
G
G
G
G
A
G
C
T
G
G
A
G
T
T
A
A
A
T
11900
G
A
A
G
G
A
A
A
C
T
T
G
A
G
A
A
A
A
A
C
G
A
C
T
C
C
T
G
G
C
A
G
A
G
G
C
A
C
A
G
G
G
C
C
T
A
T
T
A
A
11950
T
A
G
G
C
T
G
G
A
C
A
G
C
A
G
T
G
G
A
G
A
G
G
G
A
C
T
G
G
A
C
G
C
T
G
G
A
A
G
C
A
C
GATGGGGA
12000
AGGCTGGGTT TATTTCTGGG TCAGAATGTT GAGGGGCCTC ACTGGAGGGA
12050
GTGATACGAA TTCCCTCAAT TTAGCCTACC AGCTCTTGTG CCCAAGCCCT
12100
CATAAGTGGC TTAAACAGAA CGCCTGAACA CACATGTCAT AAATCAGCCA
12150
CACGTGGAAC ATATCTAGCT GAGG
C
CTTCA AGTCCTCCCT TGCTTTTTCC
12200 |
var(12175):[G:0.01]
ATGCCTAGAA CAGGATTCTC AGCCCAGAGA ACCAGAGGAA ATGGAAAAGG
12250
GGAGGGTGTC AAGTGAGAGA GGAATGCTAC AGAGCTTTCA GAGGGGCTTT
12300
AAAGAGTTTT CTACTAGAGG AGAAGGATGG AGGATGGGCA GGGATCGTGG
12350
TCAGGGATTG ACAGGCTGAG GGTATGAGGA ATGGGGTTTG GCTTATGCAG
12400
GTGGGCCATT GCCAAGAGAG GCCAAAGCAC TAACTCCATC TCCTTCTTGT
12450
TCTGTCTTGA ACTAG
C
T
G
C
C
A
C
C
C
G
G
G
T
T
A
C
C
A
T
G
G
A
G
A
G
A
G
G
T
G
T
C
A
T
G
12500 | Exon 4
C H P G Y H G E R C H 144
G
G
C
T
G
A
G
C
C
T
C
C
C
A
G
T
G
G
A
A
A
A
T
C
G
C
T
T
A
T
A
T
A
C
C
T
A
T
G
A
C
C
A
C
A
C
A
A
C
C
12550
G L S L P V E N R L Y T Y D H T T 161
A
T
C
C
T
G
G
C
C
G
T
G
G
T
G
G
C
T
G
T
G
G
T
G
C
T
G
T
C
A
T
C
T
G
T
C
T
G
T
C
T
G
C
T
G
G
T
C
A
T
12600
I L A V V A V V L S S V C L L V I 178
C
G
T
G
G
G
G
C
T
T
C
T
C
A
T
G
T
T
T
A
G
GTGAGTGTT GGGGTCCCCT GCAGGCTGTT
12650
V G L L M F R 185
TCTGCAAATC ACTCCCTTTC TTCCTCCTCC TGGGCCCTCT CCTTGATGGT
12700
CACATGCACT TCCCTCAATC TTTCCAAATC ATGGGCTAGC TCCGGGGTGT
12750
AGATTCTCCA AAAACCTGGT ATTTCTGGCA TGACATGAGT CCTGTGTCTA
12800
GAGCCCAGGG TCAAATTTGC GAGGCCATAG CAGGTTCTGC TCCTCACAGG
12850
AGTTCTTTTC CTGCCTCCAT GACCCAGCTA CCCACTCATG GAGTCACTTT
12900
GTCACACATT TCTTTCTCCT GGCTGTTCTT TGATGGCATT AGTATGTGGT
12950
TTGGTAGTCA AGGTGTGGGT GGTGCTAGTG GTATATCCTT CCACTTCTGA
13000
GGCGTCTGGA CCTCAGGCCC TGCTTTCTAA TCCAGGTATG CTCTAGCTTG
13050
GGAGACCCAC CAAGCACTCT ATGC
C
TGGT
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
13100 |
var(13075):[G:0.19]
|
REPEAT
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
13150 |
var(13131):[A:0.03]
G
T
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
A
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
13200
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
C
C
G
C
C
A
C
C
A
C
A
C
13250 |
var(13216):[C:0.19]
|
var(13241):[A:0.47]
|
var(13249):[G:0.19]
C
C
A
G
C
T
A
A
T
T
T
T
T
T
C
T
A
T
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
A
G
13300 |
var(13264):[G:0.01]
C
C
A
G
G
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
T
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
13350 |
var(13327):[T:0.19]
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
T
G
C
C
T
G
G
C
T
CTATGCCTG
13400 |
var(13388):[A:0.43]
TTTTCAAGCA G
T
G
T
A
A
C
T
C
A
T
C
T
G
T
C
A
T
G
A
G
A
C
C
T
G
G
A
A
C
A
A
G
T
T
A
C
T
G
T
13450 |
REPEAT
C
T
T
T
C
T
G
A
G
G
A
T
T
G
T
A
A
C
C
T
T
G
T
A
G
T
G
A
T
T
G
T
A
A
T
G
T
T
T
G
T
C
C
A
T
C
T
A
C
C
13500
T
C
A
T
A
A
G
G
A
T
G
T
T
A
T
G
A
G
G
A
T
C
A
C
G
T
A
A
A
T
G
A
G
G
T
G
A
A
A
G
C
T
A
T
T
T
G
T
A
A
13550 |
var(13514):[G:0.44]
A
T
T
G
C
ATCCT GCTATTAGAG ACAGGAGTTC CTCGGGGCAG TTGGGCCTTT
13600
GACCAGAGTT TGGGCTGCCC TACTGCCTGG GCTTTTCCAA GTAGTAGAGG
13650
AAACCACCAT GGCAGAGTTC TTTGGAAGGA CCTGCTCTGG ACCTGCACTT
13700
TGTCATAGCA GGCAGGGCTT ATTCACAAAA CTTATCTTCC TCAG
G
T
A
C
C
A
13750 | Exon 5
Y H 187
T
A
G
G
A
G
A
G
G
A
G
G
T
T
A
T
G
A
T
G
T
G
G
A
A
A
A
T
G
A
A
G
A
G
A
A
A
G
T
G
A
A
G
T
T
G
G
G
C
A
13800
R R G G Y D V E N E E K V K L G 203
T
G
A
C
T
A
A
T
T
C
C
C
A
C
T
G
A
G
A
G
A
G
A
C
T
T
G
T
G
C
T
C
A
A
G
GTAAC GCTCCATCCT
13850 |
UTR
M T N S H 208
TTGCCCCATG ACATGATTAT CCTTTGTCCC CTTTCCTGGC TGTGCTTCAG
13900
TGGGTGCTGA ATTCTTCATA TAGGGGTTGG GGGCCAGGCT ACTGTGACAT
13950
TAATATCCCA TTGCAGAATT ATTTTCAAAA AGACTCAGTG CTTCACTTAA
14000
GGTAAAAGTT GCTAGAGAGA CACCTAAGAG AGATGCCTGA GAGGACAGCT
14050
TCTCCCACCC TCATCCCCTC CCTTC
C
C
C
T
C
C
C
C
T
C
T
C
C
T
C
C
C
C
T
G
G
G
A
G
A
14100 |
REPEAT
C
A
G
A
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
G
T
T
T
A
A
A
A
A
T
A
A
A
A
A
A
G
A
CTGGACCA
14150
GGAAAATCTT AAGACTTCTT TAGACTGGAC CTGGCTTTAC ATGCCTTCCT
14200
TTTGTGCTTT AG
G
A
A
T
C
G
G
C
T
G
G
G
G
A
C
T
G
C
T
A
C
C
T
C
T
G
A
G
A
A
G
A
C
A
C
A
A
G
14250 | Exon 6 |
UTR
G
T
G
A
T
T
T
C
A
G
A
C
T
G
C
A
G
A
G
G
G
G
A
A
A
G
A
C
T
T
C
C
A
T
C
T
A
G
T
C
A
C
A
A
A
G
A
C
T
C
14300
C
T
T
C
G
T
C
C
C
C
A
G
T
T
G
C
C
G
T
C
T
A
G
G
A
T
T
G
G
G
C
C
T
C
C
C
A
T
A
A
T
T
G
C
T
T
T
G
C
C
14350 |
var(14317):[T:0.06]
A
A
A
A
T
A
C
C
A
G
A
G
C
C
T
T
C
A
A
G
T
G
C
C
A
A
A
C
A
G
A
G
T
A
T
G
T
C
C
G
A
T
G
G
T
A
T
C
T
G
14400 |
var(14396):[G:0.03]
G
G
T
A
A
G
A
A
G
A
A
A
G
C
A
A
A
A
G
C
A
A
G
G
G
A
C
C
T
T
C
A
T
G
C
C
C
T
T
C
T
G
A
T
T
C
C
C
C
T
14450
C
C
A
C
C
A
A
A
C
C
C
C
A
C
T
T
C
C
C
C
T
C
A
T
A
A
G
T
T
T
G
T
T
T
A
A
A
C
A
C
T
T
A
T
C
T
T
C
T
G
14500
G
A
T
T
A
G
A
A
T
G
C
C
G
G
T
T
A
A
A
T
T
C
C
A
T
A
T
G
C
T
C
C
A
G
G
A
T
C
T
T
T
G
A
C
T
G
A
A
A
A
14550
A
A
A
A
A
A
A
G
A
A
G
A
A
G
A
A
G
A
A
G
G
A
G
A
G
C
A
A
G
A
A
G
G
A
A
A
G
A
T
T
T
G
T
G
A
A
C
T
G
G
14600
A
A
G
A
A
A
G
C
A
A
C
A
A
A
G
A
T
T
G
A
G
A
A
G
C
C
A
T
G
T
A
C
T
C
A
A
G
T
A
C
C
A
C
C
A
A
G
G
G
A
14650
T
C
T
G
C
C
A
T
T
G
G
G
A
C
C
C
T
C
C
A
G
T
G
C
T
G
G
A
T
T
T
G
A
T
G
A
G
T
T
A
A
C
T
G
T
G
A
A
A
T
14700
A
C
C
A
C
A
A
G
C
C
T
G
A
G
A
A
C
T
G
A
A
T
T
T
T
G
G
G
A
C
T
T
C
T
A
C
C
C
A
G
A
T
G
G
A
A
A
A
A
T
14750
A
A
C
A
A
C
T
A
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
G
T
A
A
A
T
G
C
C
T
C
T
T
A
A
A
T
T
A
T
A
T
A
T
14800
T
T
A
T
T
T
T
A
T
T
C
T
A
T
G
T
A
T
G
T
T
A
A
T
T
T
A
T
T
T
A
G
T
T
T
T
T
A
A
C
A
A
T
C
T
A
A
C
A
A
14850
T
A
A
T
A
T
T
T
C
A
A
G
T
G
C
C
T
A
G
A
C
T
G
T
T
A
C
T
T
T
G
G
C
A
A
T
T
T
C
C
T
G
G
C
C
C
T
C
C
A
14900
C
T
C
C
T
C
A
T
C
C
C
C
A
C
A
A
T
C
T
G
G
C
T
T
A
G
T
G
C
C
A
C
C
C
A
C
C
T
T
T
G
C
C
A
C
A
A
A
G
C
14950
T
A
G
G
A
T
G
G
T
T
C
T
G
T
G
A
C
C
C
A
T
C
T
G
T
A
G
T
A
A
T
T
T
A
T
T
G
T
C
T
G
T
C
T
A
C
A
T
T
T
15000
C
T
G
C
A
G
A
T
C
T
T
C
C
G
T
G
G
T
C
A
G
A
G
T
G
C
C
A
C
T
G
C
G
G
G
A
G
C
T
C
T
G
T
A
T
G
G
T
C
A
15050
G
G
A
T
G
T
A
G
G
G
G
T
T
A
A
C
T
T
G
G
T
C
A
G
A
G
C
C
A
C
T
C
T
A
T
G
A
G
T
T
G
G
A
C
T
T
C
A
G
T
15100
C
T
T
G
C
C
T
A
G
G
C
G
A
T
T
T
T
G
T
C
T
A
C
C
A
T
T
T
G
T
G
T
T
T
T
G
A
A
A
G
C
C
C
A
A
G
G
T
G
C
15150
T
G
A
T
G
T
C
A
A
A
G
T
G
T
A
A
C
A
G
A
T
A
T
C
A
G
T
G
T
C
T
C
C
C
C
G
T
G
T
C
C
T
C
T
C
C
C
T
G
C
15200 |
var(15185):[T:0.01]
|
var(15200):[T:0.18]
C
A
A
G
T
C
T
C
A
G
A
A
G
A
G
G
T
T
G
G
G
C
T
T
C
C
A
T
G
C
C
T
G
T
A
G
C
T
T
T
C
C
T
G
G
T
C
C
C
T
15250 |
var(15248):[T:0.01]
C
A
C
C
C
C
C
A
T
G
G
C
C
C
C
A
G
G
C
C
C
A
C
A
G
C
G
T
G
G
G
A
A
C
T
C
A
C
T
T
T
C
C
C
T
T
G
T
G
T
15300
C
A
A
G
A
C
A
T
T
T
C
T
C
T
A
A
C
T
C
C
T
G
C
C
A
T
T
C
T
T
C
T
G
G
T
G
C
T
A
C
T
C
C
A
T
G
C
A
G
G
15350 |
var(15342):[T:0.01]
G
G
T
C
A
G
T
G
C
A
G
C
A
G
A
G
G
A
C
A
G
T
C
T
G
G
A
G
A
A
G
G
T
A
T
T
A
G
C
A
A
A
G
C
A
A
A
A
G
G
15400 |
var(15390):[C:0.01]
C
T
G
A
G
A
A
G
G
A
A
C
A
G
G
G
A
A
C
A
T
T
G
G
A
G
C
T
G
A
C
T
G
T
T
C
T
T
G
G
T
A
A
C
T
G
A
T
T
A
15450
C
C
T
G
C
C
A
A
T
T
G
C
T
A
C
C
G
A
G
A
A
G
G
T
T
G
G
A
G
G
T
G
G
G
G
A
A
G
G
C
T
T
T
G
T
A
T
A
A
T
15500
C
C
C
A
C
C
C
A
C
C
T
C
A
C
C
A
A
A
A
C
G
A
T
G
A
A
G
G
T
A
T
G
C
T
G
T
C
A
T
G
G
T
C
C
T
T
T
C
T
G
15550 |
var(15528):[T:0.46]
G
A
A
G
T
T
T
C
T
G
G
T
G
C
C
A
T
T
T
C
T
G
A
A
C
T
G
T
T
A
C
A
A
C
T
T
G
T
A
T
T
T
C
C
A
A
A
C
C
T
15600
G
G
T
T
C
A
T
A
T
T
T
A
T
A
C
T
T
T
G
C
A
A
T
C
C
A
A
A
T
A
A
A
G
A
T
A
A
C
C
C
T
T
A
T
T
C
C
A
T
A
15650
GCCTTTTGTC TGTTTGTTTT AACCGGGAAC TGGTTTAACT TAGTT
A
T
T
T
C
15700 |
REPEAT
C
T
A
A
G
C
C
C
T
G
A
C
T
T
G
G
T
G
G
T
A
G
G
C
T
C
T
A
T
A
C
C
A
G
G
C
C
T
A
T
T
T
A
T
G
T
A
T
A
C
15750
T
A
C
C
A
C
A
A
C
A
A
T
T
C
T
G
C
G
A
T
G
C
A
G
G
T
A
C
T
A
T
T
A
C
T
G
T
C
C
C
A
T
T
T
T
T
C
C
A
G
15800
A
A
G
G
G
G
A
A
A
C
T
G
A
G
G
C
T
C
A
A
A
G
T
G
G
T
T
G
T
G
T
A
A
C
T
T
G
C
T
T
G
A
G
G
A
T
A
C
A
C
15850 |
var(15839):[C:0.45]
A
G
C
T
A
G
T
A
A
A
T
G
A
C
A
G
A
G
C
T
G
G
G
A
C
T
A
G
T
A
G
T
C
T
G
G
C
T
C
C
A
A
T
T
A
T
T
T
T
G
15900
T
C
T
T
A
G
T
A
C
T
T
A
T
A
C
C
A
T
G
C
T
A
T
CTCTGAG ATAAGAAAGA ACAGATCTTT
15950
CGCACAGCAT GTTTAGCTGG CTGTAATCAG GGAAGATATC CACCCATTCA
16000
GTCAACAGGC CCTGGACTCA GGATCTACTC CTATGCTGCA CATATGAGCA
16050
GGCA
T
T
G
C
T
T
C
T
G
G
C
A
A
G
A
A
C
A
A
G
A
T
G
T
C
T
T
T
G
A
C
T
A
C
C
C
T
A
T
C
T
T
G
C
T
C
16100 |
REPEAT
C
A
C
A
G
C
C
A
A
T
C
C
A
T
C
A
G
C
A
A
A
T
C
T
T
G
T
C
A
G
C
C
C
T
A
C
C
T
T
T
A
G
A
A
T
A
C
A
T
G
16150
C
T
G
T
A
T
G
C
A
A
C
C
A
C
T
T
C
T
C
A
T
C
A
C
T
G
C
C
A
C
T
A
C
C
A
T
C
A
C
C
C
A
G
T
C
C
A
A
T
T
16200
T
C
G
C
A
T
C
A
T
C
T
C
A
T
G
C
C
T
G
C
A
C
T
T
T
T
G
T
G
A
T
G
G
C
C
T
C
T
G
C
C
T
T
T
C
T
A
G
T
T
16250
C
C
A
T
C
T
T
G
C
T
T
C
C
A
T
A
T
A
A
C
A
T
A
T
T
T
C
C
A
G
T
G
T
A
A
T
A
G
C
C
A
G
A
G
T
G
A
T
C
A
16300
T
G
T
C
T
T
T
C
A
G
A
T
C
T
T
G
T
C
T
G
C
T
C
T
G
C
A
G
G
C
C
T
T
C
C
C
T
G
A
C
C
A
C
C
G
T
A
T
T
A
16350
A
A
C
A
A
C
A
G
C
A
C
A
T
T
C
C
T
T
C
T
C
C
C
A
T
C
C
T
A
C
T
C
T
T
A
C
T
C
T
T
C
T
T
A
C
A
T
T
G
C
16400
T
T
T
T
T
A
T
C
A
C
C
A
C
T
A
A
C
A
T
A
T
T
C
C
T
A
T
T
T
G
T
T
T
A
T
A
G
T
C
C
A
T
C
T
C
C
T
C
C
T
16450 |
var(16413):[G:0.01]
A
T
G
A
A
A
A
T
G
T
T
A
G
C
T
C
C
A
T
G
A
G
G
G
T
A
G
G
G
G
T
G
T
G
T
A
C
A
T
T
G
C
T
C
C
T
C
T
C
C
16500
T
A
G
A
T
T
C
T
A
A
G
A
C
A
A
T
G
C
A
A
T
T
G
A
G
T
G
G
T
A
G
G
C
A
C
T
C
A
A
T
A
T
T
T
G
T
T
A
C
C
16550
T
G
G
A
T
G
A
A
T
G
A
A
T
GTAGGAA ATACAATTCA GTCCAATGCC AGCAAGTGGA
16600
CAGACATGCA ATCCAATGCT GCCCTGAAAG TGTGATTGGA TTAGAGAGGG
16650
GTCTCTGTTG GGGAATGTGG ATGGTGGTGA CAAAATGAAA GTGGAATTTG
16700
GGGCATGTCA TGTGTCCTGG TGGATTGGAC AGTCCATCAA GTGGACTGGG
16750
GCAGTGCAGT AGCACTG
G
AC AAGTGCCACT GGGCTGCCCC TTCCTCATCC
16800 |
var(16768):[A:0.01]
TCTTCCCTTG CAGAGTTGTG ATAT