NFKBIE 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
TTGAACCCAG TTGGTCTGGG TCTGGAGTTT ATTACTATAC TTTTGCTGCA
50
GCCTTTGAGG ACCGGAGAGG AACATGTCAG GGGAGGAGAC TGAGAACATC
100
TGAAATCATG CTGACTCAAG GGAAGGAGAT GCTTC
A
ATTT CCCAGGCCTT
150 |
var(136):[G:0.01]
TCCCCTCGTG GCTCCTCACT GGGCTTCATG CTCATTACGT CTTTCCCACT
200
CTGGTCCTAC ATGGGGTTGA AGAACAGTGG GCCATCTTCT CCCCTCAGCC
250
CTCCCCCAAC TCTTCTGCCT CCAATCGCCC CCCACAGACT AGGTCCTTCT
300
CCTCTCCCTA TCTCTCTTCC CTTCCCATTC TCAGTTCAAA TGGAAGCTTC
350
CTTGCCT
C
TC ACCCCACTGA GTAGCTGGCC CCACTGTGTG CCCCCACAAC
400 |
var(358):[G:0.01]
ACCCTGTTCT CACTTCTGTC TTATCCCAAC CACTCTGAGC TGTAATTGCC
450
AAGGAGCTTT TTTAGGACCA TGGGATTTTT TTGTTGGTCA TGGGGGGTGG
500
TTATTGGTTA TTACTGTGAT AGTCAGTTTT GCTTCCAGTA GAAAGAACAA
550
C
G
TCAGACAT TACAGGAGAC CTTCCATACA TGTTTGTCAA GTAGGTGAAT
600 |
var(552):[A:0.05]
GATGGATGAA TAAAATGAGG TTGCAGGGGA AGGGCTGTGG GAAAGCTGGC
650
CT
C
CCCCCTG CAAAACGTTG CTGTCTACAC TCATCCACCT TCCTTTCTCC
700 |
var(653):[A:0.03]
AATGCTGGAG ATGGAAAAGC TACATGTTCC CTTG
C
GGATA ACCCTCTAAG
750 |
var(735):[G:0.05]
GGCATTGCTG GCGTTAGGCT GATAGCACTT GGAATAGTGG GGAGGAATGA
800
GGGAATAAAT CATGGAGCAT GGGCTTAGGG CTCACTTGTA GTAGGGTGCT
850
CCCACGGCCT TCCTAGGCCC AGGGACAGTG AAAGAGGAAA GATGTTTTGG
900
GACTAAGATT GGGGCTGTGT TGGGGACCTG AGCAGAGTGC AACCCAGCAT
950
GTCTGGGGCC TCCCCAACCT GACCCCACTT CCTTGACTGC TGGGGTTGAC
1000
CAGAAACTGT AACTACCCAA GGCCAGGGTT TCACCCTTTG AGGAAGAAGA
1050
AACTCCACAA CCACTTTACT TTTTAGACAA CAGTT
T
C
C
C
T
G
A
G
A
A
G
A
C
G
C
1100 |
NOT SCANNED
T
C
T
T
T
C
C
A
A
A
A
A
A
A
C
A
T
T
T
T
C
A
T
G
C
C
C
A
A
T
T
C
C
A
T
G
T
G
A
T
G
T
G
G
G
A
C
G
T
T
1150
G
A
C
A
C
A
G
G
A
G
A
C
T
G
T
C
T
T
C
C
A
G
G
A
C
C
C
A
G
G
A
G
A
A
C
T
G
C
T
C
C
T
T
T
A
A
A
G
A
T
1200
A
A
T
G
G
G
A
G
T
C
C
C
C
T
T
T
C
C
C
T
A
C
C
C
G
T
A
C
C
C
C
T
G
G
G
C
A
C
T
G
A
T
A
G
G
G
A
A
A
G
1250
A
T
G
A
G
A
A
A
G
C
A
A
G
A
G
A
A
A
T
T
G
A
G
A
T
A
A
A
T
G
GGCAGGGGAT AGGAAGCAGT
1300
GCTTCCCCAT CCCATCGCCT ACATGCCCTC CCCCAAAGAT GCCAGCTTGT
1350
ACGGACAATT AATAGATATT TCTTTTAAAA CAAATGAATG AT
C
C
G
G
G
A
C
C
1400 |
REPEAT
G
G
T
G
G
C
T
C
A
C
A
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
T
A
G
T
C
C
G
A
G
G
C
A
G
G
C
A
G
1450
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
G
T
A
G
C
G
A
G
A
C
C
1500
C
C
C
G
T
C
T
C
T
A
C
T
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
A
A
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
1550
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
A
G
A
G
A
T
C
A
A
C
C
A
C
T
G
C
1600
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
A
A
G
A
C
T
T
C
G
T
C
T
C
A
A
A
A
A
A
A
T
A
A
A
A
A
A
T
1650
A
A
A
A
A
T
A
A
A
A
C
A
A
A
TGAATT AAGAAATAGA AGTGAAAGAA GGAAACAGTA
1700
CATGCGTGGA ACTAATGAAT GGAGTGAAGG AGGAAGGGGG AAAGAGTG
A
A
1750 | Exon 1 |
UTR
|
var(1750):[G:0.01]
T
G
A
A
T
G
A
A
T
G
A
A
T
G
A
A
T
G
A
G
T
G
A
A
T
G
A
A
T
C
A
A
C
G
A
A
G
G
A
G
T
G
A
G
T
C
A
A
G
G
1800
M N Q R R S E S R 9
C
C
C
G
G
G
A
A
C
C
A
C
A
G
A
C
T
C
C
A
A
G
C
C
T
A
C
G
C
A
G
A
G
C
C
C
G
G
G
A
A
G
G
G
G
G
A
T
T
C
1850
P G N H R L Q A Y A E P G K G D S 26
C
G
G
A
G
G
G
G
C
G
G
G
G
C
C
T
C
T
T
T
C
C
G
G
A
A
G
C
G
C
C
C
G
C
C
G
G
G
G
G
C
G
G
G
G
A
G
G
G
G
1900
G G A G P L S G S A R R G R G G 42
G
C
G
G
G
G
C
C
A
T
C
C
G
C
G
T
G
A
G
G
C
G
A
C
C
C
T
G
T
T
G
G
T
C
C
G
G
A
G
G
G
G
G
C
G
G
G
G
C
G
1950 |
var(1943):[:0.99]
G G A I R V R R P C W S G G G G A 59
A
G
G
A
G
G
A
G
G
A
C
C
C
G
C
T
T
G
G
G
C
G
G
T
T
C
G
G
C
T
G
C
C
C
A
C
A
G
T
A
A
C
C
G
C
T
G
G
G
T
2000
R R R T R L G G S A A H S N R W V 76
G
G
A
C
C
T
G
G
C
C
A
G
C
G
C
T
C
C
G
A
A
C
C
T
T
G
T
C
C
T
C
G
C
T
G
C
G
C
G
C
C
G
G
C
C
C
C
T
C
G
2050 |
var(2013):[T:0.01]
D L A S A P N L V L A A R R P L 92
G
A
G
C
C
C
C
A
C
A
G
C
C
C
G
G
G
A
A
G
G
A
G
G
C
C
G
C
C
G
C
G
G
G
C
C
G
G
G
C
G
C
C
C
G
C
T
C
T
G
2100 |
var(2059):[G:0.05]
G A P Q P G K E A A A G R A P A L 109
C
C
A
A
G
C
G
G
A
C
C
C
G
C
A
A
C
C
C
G
G
A
A
A
G
G
C
G
G
C
G
C
G
G
C
G
G
A
G
C
C
T
G
G
A
G
C
C
G
G
2150
P S G P A T R K G G A A E P G A G 126
A
T
C
C
T
G
C
T
C
A
G
A
C
C
G
G
G
C
C
C
C
G
G
C
C
G
G
C
C
A
G
A
G
C
C
G
C
G
G
G
C
A
T
G
T
C
G
G
A
G
2200
S C S D R A P A G Q S R G H V G 142
G
C
G
C
G
G
A
A
G
G
G
G
C
C
G
G
A
C
G
A
G
G
C
G
G
A
G
G
A
G
A
G
C
C
A
G
T
A
C
G
A
C
T
C
T
G
G
C
A
T
2250
G A E G A G R G G G E P V R L W H 159
T
G
A
G
T
C
T
C
T
G
C
G
C
T
C
T
C
T
G
C
G
C
T
C
C
C
T
A
C
C
C
G
A
G
T
C
C
A
C
C
T
C
G
G
C
T
C
C
A
G
2300 |
UTR
159
C
C
T
C
C
G
G
G
C
C
C
T
C
G
G
A
C
G
G
C
A
G
C
C
C
C
C
A
G
C
C
C
T
G
C
A
C
C
C
A
T
C
C
T
C
C
G
G
G
A
2350
C
C
C
G
T
C
A
A
G
G
A
A
C
C
A
C
A
G
G
A
G
A
A
G
G
A
A
G
A
C
G
C
G
G
A
T
G
G
G
G
A
G
C
G
G
G
C
T
G
A
2400
T
T
C
C
A
C
C
T
A
T
G
G
C
T
C
C
T
C
C
T
C
G
C
T
C
A
C
C
T
A
C
A
C
C
C
T
G
T
C
C
T
T
G
C
T
G
G
G
G
G
2450
G
C
C
C
C
G
A
G
G
C
T
G
A
G
G
A
C
C
C
G
G
C
C
C
C
A
C
G
C
C
T
G
C
C
A
C
T
C
C
C
C
C
A
C
G
T
G
G
G
G
2500
G
C
G
C
T
G
A
G
C
C
C
T
C
A
G
C
A
G
C
T
G
G
A
A
G
C
A
C
T
C
A
C
T
T
A
C
A
T
C
T
C
C
G
A
G
G
A
C
G
G
2550
A
G
A
C
A
C
GTGA GTATGGGGGC TAGGCTGAAT CGGGATGCTA ACTCTGGGCC
2600
TGCCCAAGAG CCGCAACAGG TCGGGCACCC CCACTCCCCC GTGAAGATCC
2650
TTCAAGTCCC CATTCGCTCT TCCAAACTCC AGACTTAACT CTCAGCC
C
A
C
2700 |
NOT SCANNED
T
T
T
T
G
A
G
G
T
C
C
A
G
C
T
A
G
G
C
C
A
T
G
G
A
A
T
C
A
T
C
T
C
T
G
T
C
C
T
C
C
C
A
T
T
T
C
G
G
G
2750
G
T
G
G
G
C
A
G
A
G
C
T
G
G
C
A
G
G
A
C
C
C
T
T
A
A
C
C
C
A
G
C
C
A
G
C
A
T
C
T
T
G
G
A
A
A
T
C
T
A
2800
C
C
A
A
T
A
A
T
C
C
A
C
C
C
T
T
A
G
G
A
A
G
A
G
A
A
A
A
T
T
C
C
C
C
T
G
A
C
C
A
A
G
T
C
C
A
G
T
T
T
2850
T
T
T
T
G
T
T
T
C
T
T
C
T
T
G
C
T
G
G
G
G
A
A
G
G
G
G
A
C
A
T
C
C
T
T
A
T
T
T
G
C
T
C
A
A
T
A
T
C
T
2900
G
G
G
A
T
T
C
C
C
A
G
T
T
C
C
T
G
A
C
C
T
C
A
G
A
A
T
G
C
T
C
T
G
T
C
T
C
A
A
G
G
A
A
C
A
A
C
A
G
G
2950
T
G
C
C
A
G
T
T
A
C
A
G
G
T
T
G
C
C
A
G
T
C
G
G
G
G
C
C
A
G
G
A
A
G
C
T
A
G
G
C
A
T
G
G
G
G
G
G
T
G
3000
C
C
A
C
C
A
G
G
G
T
G
T
A
G
G
T
T
T
G
G
G
A
C
T
G
G
T
C
C
T
C
A
G
G
A
G
G
A
T
G
G
G
G
T
G
A
G
C
C
A
3050
G
G
C
T
G
G
G
G
C
A
C
T
C
T
T
G
C
C
C
C
A
G
C
A
G
A
C
A
G
A
C
A
G
G
C
G
G
C
T
G
G
C
T
G
C
C
C
C
A
G
3100
C
T
T
A
C
T
T
C
C
T
C
C
T
C
T
G
C
T
A
A
G
A
A
A
G
G
G
G
A
A
G
TGAGGGCTA GAGTCAGCGT
3150
CCCTGACATC CTCTACCTCC AGAGCCCCCA GTCCCACTAA CTGTCGTGTC
3200
T
CACTCCCTC ACTTAACCCT TCCTCCTCCA GACCCAGATG GAGTTTGGTG
3250 |
var(3201):[C:0.26]
GGAGTGGGCC AGAGGGCAGT TGAAGTAAAA GGCAGTTGTG TGGGATGGGT
3300
TGGCCAGTTG AGGATTTAGC CCCCCAGGAA GAAGAAAACA TTGACAGAGG
3350
AGGGAAAGGT TGGGAACTGG GGATGAGAAA TAGAGTTGGG GAGGGCTGGA
3400
ATCCCTGGTC AAGGGTGCTC ATATAAATAG GAGTAGGGGA GGCAGGAGGT
3450
GGCTGTCCTA ACCTGCTTTT TGGAGATGCA GGGTCCTAAT CCTGGGTGGC
3500
CATTGATAAA GACAGCTGGT GGACCCAGTG GGTGGGAGAG GAGTGACCCA
3550
GTCCTTTCTG TACTCTGCCT GGATCACCAG CCCTCAGGCC
C
AGAACCCCA
3600 |
var(3591):[G:0.02]
AGGTTTTGGG GGCTGCACGC AAGATACCTC TGATGACCTT TGATCCAAGG
3650
AGAGGGGACT TTTGACATTG CCGTCTTTTG TTAGCCTCTC AGCCCCAGCC
3700
TTTTCCATCT CTAGTTAGAA GCAGGTGTTG TGTCCAGATT GGGTGTGTGT
3750
GTGGAGGGGA GAAATGTCCG GGCTCCCCAG C
G
AGTCCCCA GAGAG
C
AGGG
3800 |
var(3782):[A:0.01]
|
var(3796):[G:0.03]
GGCACTTTCC TCCCTCTGTT GGAGGTGTCT GGGCTGTGGG AGGTATGGAA
3850
GTGGGAAGAG GAAGTGGGAG GAGGGGATAC TGGGGGAGAG AGGGAGGTGG
3900
CTGCAAGAAT GTGACCCAGA GAGCAGGCCC TGGCCTAGGG GATTTCCAGA
3950
GCAGTTCCTC CCTCCCTCCG TCACTCTCCT GGGCCTCTCC TGCTGCCTGC
4000
TGCTAAAGCC TGCCACCCTC CTGCCCAAGC AGCCCCCTCC CCAGCCCAGA
4050
CGGGCCTTTT AGCCAATCTA CCCCCCTCAC TAATGCCCCA AGGCAGCTGT
4100
CC
C
GGCCTAG ACCCTCCATC
A
CTGGCTTTC GTTTTCCCCA CCTGACGTGG
4150 |
var(4103):[T:0.01]
|
var(4121):[T:0.01]
GGAAACCCC
A
AGACTGGAAC TTCCCCTCCC AACTGCCCCC ATTACCCCTA
4200 |
var(4160):[G:0.07]
GATTAAGGTT CTTGGCCCCC TCAACAAATA CATTTTCTGC ACTACAAAGA
4250
CCTCCTCTTG GAGGTGCACA CAGGAATGGA GGGCCTCTGT TAGGCCCGAC
4300
CTGGTCTGTG CTATCTGAGA GGTGCCTCTT GACTCCCAGG GAAGGGCAGC
4350
AGGACAGGAT GCTGCACTGT CTCCTTGCTC CTCTTCCAAG AGTTTCTGTG
4400
TCTCTCCCTT GGAATGTGTA ACACTGAGTT GCTTGGGGGT ACGGGGTGAC
4450
CCTGCAACTG TCTCCTTCTT TCCTGTGTGC TGGGGTGGTG GGGTGCTTAG
4500
CCCTGGAAAC CCCCTCTGGA CTACTTCGGC AGCTTTCA
A
T TTGGCTTTGA
4550 |
var(4539):[G:0.01]
GCTGCAGCTG GCTCGG
C
AGA GCCCTGAGGG CAAAGAGGAG TGGGTGTGGG
4600 |
var(4567):[T:0.03]
CAGGCTGGAC AGGAAGGCTG TTGTCCTGTC AGCACCCTGC CCACATGCCC
4650
ACCCAGCCAA GGCCCTCCTG AAGGCCAGCA GTGGGAACTT GGAGCTCCAA
4700
CCCTAGGATC CTGGCTTCCC ACACCAACCC TCACTTCCTG GCCCACACTC
4750
TCACTTCCTG GACCTACCCT ATGGGTAGCT AGTTAAAGTT TGATGTGTTC
4800
CTTCTAACTC CAAGACCCCA ACCCACTCCC TCTGGCCTGG GCCCTTAACT
4850
CTAAGCCCCG CCTCTGCTCC CCTAG
G
C
T
G
G
T
C
C
A
C
C
T
G
G
C
A
G
T
G
A
T
T
C
A
T
4900 | Exon 2 |
UTR
G
A
G
G
C
C
C
C
A
G
C
G
G
T
G
C
T
G
C
T
C
T
G
T
T
G
C
C
T
G
G
C
T
T
T
G
C
T
G
C
C
C
C
A
G
G
A
G
G
T
4950
C
C
T
G
G
A
C
A
T
T
C
A
A
A
A
T
A
A
C
C
T
T
T
A
C
C
A
G
GT TGGTGGCGAG AGAATGTTAT
5000
GCCCAGATAC CTGTTTGTGC CCTGGCAGCC ATTC
C
CAGCA GCCATACCAG
5050 |
var(5035):[T:0.03]
TCCAAAGGCT GCTCACTTAG GAAA
C
C
A
T
A
T
G
C
C
A
G
A
C
A
C
T
G
A
G
C
T
A
G
A
A
A
5100 |
REPEAT
C
T
G
A
G
G
A
G
A
C
A
G
A
C
C
C
A
A
G
T
A
A
G
A
C
A
T
G
G
C
C
T
C
T
G
T
C
C
T
G
A
G
G
T
G
C
T
T
G
C
5150
A
T
C
C
T
G
G
G
C
T
G
G
G
G
G
A
C
T
T
G
T
A
T
C
A
A
C
A
G
C
T
A
A
A
T
A
C
A
C
A
G
C
C
T
G
G
T
G
A
C
5200
A
A
G
A
G
T
T
G
T
G
A
T
A
G
A
G
A
C
A
C
A
T
A
C
C
A
G
C
T
G
C
T
A
T
A
G
G
G
T
C
C
A
G
T
G
T
C
T
G
T
5250
G
T
G
C
A
G
C
A
G
C
C
A
G
G
G
A
A
G
G
C
T
T
A
C
A
G
A
G
G
A
G
A
T
G
C
C
A
T
C
T
G
A
A
T
G
G
A
G
C
C
5300
T
A
A
C
A
G
A
G
A
G
T
T
T
T
G
C
C
A
G
G
G
A
G
A
GACTGC CCGGTGCCTC TATCTTTCCT
5350
CCTGCAGCCT AACCCCTGGG GGTAACAGAG GTCTCCTCAC AGGGTGAGGG
5400
GCTAGACTCT CCTCCTACAT GTCCTTTCTC CAGGGCCTAA GGTGACTTAC
5450
AAGAAAAGCA GAGAGCTACT TTCTTCACCT TGCTTCCAGA ATTGGGATCC
5500
CAAGAGCTTG GTGGGGGAGG GGTGTGACAG GGGAAGGGCT CGGTAGTATT
5550
TCCTTGGAAG AACAGGT
T
AT
G
G
CCTTT
T
AT AAGCTGCTTT CAAAGAAGAT
5600 |
var(5568):[C:0.47]
|
var(5571):[A:0.47]
|
var(5572):[A:0.47]
|
var(5578):[:0.53]
GCTGGCAGCT GGTGATTCTT GAGCCCAAGC ATGTTCCCAG AGGTGGGAGC
5650
ATGCTGCAGT GGCCCCATGA CCCTCTATTT GTGCCTCCAG
A
C
A
G
C
A
C
T
C
C
5700 | Exon 3 |
UTR
A
T
C
T
G
G
C
T
G
T
A
C
A
T
C
T
G
G
A
C
C
A
A
C
C
G
G
G
C
G
C
A
G
T
T
C
G
G
G
C
A
C
T
G
G
T
G
C
T
G
5750
A
A
G
G
G
G
G
C
C
A
G
C
C
G
G
G
C
A
C
T
A
C
A
G
G
A
C
C
G
G
C
A
T
G
G
T
G
A
C
A
C
A
G
C
C
C
T
T
C
A
5800
T
G
T
G
G
C
C
T
G
C
C
A
G
C
G
C
C
A
G
C
A
C
T
T
G
G
C
C
T
G
T
G
C
C
C
G
C
T
G
C
C
T
G
C
T
G
G
A
A
G
5850
G
G
C
G
G
C
C
A
G
A
G
C
C
A
G
G
C
A
G
A
G
G
A
A
C
A
T
C
T
C
A
C
T
C
T
C
T
G
G
A
C
C
T
C
C
A
G
C
T
G
5900
C
A
A
A
A
C
T
G
G
C
A
A
G
GTGTGGA CAGTCTTTAA GACTGCCCTT AGGGCCTGTG
5950
GGATGAGGAG GGCATAGGAG ATAGGGACCT CACTCTTGGG GAAGGGAGGG
6000
TCCCAGCTTG TCCATTGGTG CCCCTCCCAC TGTAAGCACA TAGATATTCA
6050
GTACATCTTT GCCAAATGAA TGAATGGATG ATTTGATTT
C
GAATTTAACC
6100 |
var(6090):[T:0.02]
AGTACCTACT GCCTGCTGAG AAGAAAACTA AATCTTGCCC TTAAGATACT
6150
TAGTTTAATA GAGATTAGAT GACCTG
A
T
T
C
A
T
T
C
A
T
T
C
A
A
C
A
G
A
A
A
T
G
T
A
6200 |
REPEAT
C
T
G
A
G
G
G
T
T
T
T
C
T
A
T
G
T
G
C
C
A
G
A
C
G
T
T
A
T
C
C
T
A
G
G
A
G
C
T
A
C
A
C
T
T
G
C
A
T
C
6250
T
G
T
G
T
G
C
A
A
A
A
T
A
G
A
G
A
A
A
G
A
T
T
G
A
G
A
T
G
A
G
C
A
A
T
A
A
A
T
G
T
A
A
G
A
A
G
T
G
A
6300
A
C
T
A
T
G
T
A
A
T
A
T
G
T
T
A
A
A
A
G
G
A
A
G
T
A
A
G
T
G
C
T
G
T
A
G
T
A
A
A
A
A
G
C
A
G
A
G
C
A
6350
G
A
G
T
G
A
G
A
G
G
A
A
G
G
A
A
T
G
T
G
G
G
G
A
G
T
A
G
G
A
G
A
G
T
T
G
A
T
A
T
G
A
T
T
G
T
T
A
A
A
6400
T
A
G
G
G
T
G
G
T
C
C
G
G
G
A
A
G
G
C
C
T
C
A
T
G
G
A
G
C
C
A
G
T
G
A
C
A
T
C
T
G
A
A
T
A
G
C
G
C
C
6450
C
T
G
A
G
G
A
A
G
G
T
G
A
A
G
A
A
TGT AAATTTGAAT
C
GAAATCTCT ATTACTAAGC
6500 |
var(6461):[G:0.03]
|
var(6481):[T:0.01]
AAGGGTCGGG AGTGTCCAGA CTAGAAAGGA GAGCAAAAAG GCCAGGGGAG
6550
CACAGAAGGA AGCGGCCCCT GAGAAAGGGC TGGGGGCATG AGGATCTTAG
6600
GTGGCTTTTC AGAAAAGGTG GCTTTCAGAC TGGGCTTGAA GGCAGGTTGT
6650
GTGTGTGTGT GTGTGTGTGT GTGTGTGTCT GTATGTGTGT GTGTGTGTGT
6700
GTGTGTGTGT GTTGTAGTTT GTGTATAGGA GGAGGGTGTT CTTTGGGGGT
6750
GTCACTCAGC AGCCTGACCC CTGAAGCATG AAAGTTTCAA TAACATGACT
6800
CTGAAAAGGT GGAAACTTTG AGT
T
CCTTTC CCCTTAGACT TTTGAGGGGG
6850 |
var(6824):[C:0.25]
TTTTGGGGTT TGCATTTTAA CAGTCTTGTG ATTAGAGACA TTGAGTGGGC
6900
TGTGAGTCCC TTGGGGCTGA GTGGTAGGGA GGTCCCAGAA GAGAGGGAGT
6950
TGGTGGATGC AGATCAGCAG CCCTCACCCT CACTCTCACC CCATCCCAG
G
7000 | Exon 4 |
UTR
T
C
T
G
G
C
T
T
G
T
C
T
C
C
A
C
A
T
T
G
C
C
A
C
C
C
T
T
C
A
G
A
A
G
A
A
C
C
A
A
C
C
A
C
T
C
A
T
G
G
7050
A
A
T
T
G
C
T
G
C
T
T
C
G
G
A
A
T
G
G
A
G
C
T
G
A
C
A
T
T
G
A
T
G
T
G
C
A
G
GT GAGACAGCCA
7100
GCAAAGCACT GCC
C
GGCCCA GGGCCTGCCC CCACCTGACA CATCCCCAAG
7150 |
var(7114):[T:0.28]
TCCCCTGCCC AGCAGTCAGA AGTGGTGGCA TTCACTTCCT TATCCAGAGC
7200
CCAGGCCCAG CACACTGCCT CTGAGGGCCT TGGCTGACAT CCTTATTCCT
7250
CCCCAG
G
A
G
G
G
C
A
C
C
A
G
T
G
G
T
A
A
G
A
C
A
G
C
G
C
T
G
C
A
C
C
T
G
G
C
T
G
T
G
G
A
A
A
C
7300 | Exon 5 |
UTR
C
C
A
A
G
A
G
C
G
G
G
G
C
C
T
G
G
T
A
C
A
G
T
T
C
C
T
G
C
T
C
C
A
G
G
C
T
G
G
T
G
C
C
C
A
G
G
T
A
G
7350
A
T
G
C
C
C
G
C
A
T
G
C
T
G
A
A
C
G
G
G
T
G
C
A
C
A
C
C
C
C
T
G
C
A
C
C
T
G
G
C
A
G
C
T
G
G
C
C
G
G
7400
G
G
T
C
T
C
A
T
G
G
G
C
A
T
C
T
C
A
T
C
C
A
C
T
C
T
G
T
G
C
A
A
G
G
C
G
G
G
T
G
C
T
G
A
C
T
C
C
C
T
7450
G
C
T
G
C
G
G
A
A
T
G
T
G
G
A
G
G
A
T
G
A
G
A
C
G
C
C
C
C
A
G
G
A
C
C
T
G
A
C
T
G
A
G
G
A
A
GTAA
7500
GTGGCATATG CTTTGCTCTC CAGG
G
CCTTG CACACCCATA GCAGAGAGAG
7550 |
var(7525):[T:0.09]
GTTCTGTCAT T
A
G
C
T
G
A
A
A
G
G
G
C
C
A
G
G
G
A
G
C
C
A
G
G
A
G
T
C
C
T
G
G
G
G
T
A
T
A
A
7600 |
REPEAT
C
C
A
G
G
A
C
T
C
T
G
C
C
A
C
T
G
A
C
C
A
A
C
T
G
T
G
G
G
A
A
C
T
T
G
A
G
C
C
T
G
T
T
T
C
C
T
T
A
G
7650
TTGGTCCAAG GAGC
C
A
A
A
T
T
T
G
G
A
C
T
C
T
T
A
C
A
G
G
G
A
C
C
C
T
G
C
A
G
T
T
A
A
A
G
7700 |
REPEAT
T
G
A
A
T
C
A
G
T
G
A
A
G
T
T
G
G
C
C
A
G
A
T
A
T
G
A
G
A
C
C
A
T
G
G
T
G
T
G
G
T
G
A
G
G
C
C
T
A
T
7750
A
A
G
A
A
C
C
C
A
G
A
G
A
G
C
C
A
T
C
C
C
T
G
A
G
G
G
T
C
T
C
T
G
T
A
C
T
C
A
G
C
T
T
C
A
G
C
A
A
A
7800
G
G
C
T
T
A
C
A
A
A
G
C
A
G
G
A
G
T
G
T
A
G
G
C
C
C
A
G
T
T
T
T
T
C
C
T
G
G
T
C
T
T
G
G
A
C
T
T
T
C
7850
T
T
G
A
G
A
G
G
T
G
A
A
A
C
T
C
A
G
A
T
T
T
T
C
T
G
T
A
C
A
G
T
C
T
T
T
C
C
T
A
T
T
T
T
T
A
A
A
T
G
7900
T
T
CAGTGTAA AAAAGAAACC TAAATGTTCT GCGAGTACCC AGCAG
C
CCCC
7950 |
var(7946):[T:0.01]
CCACCCCATC CCCCAACAAC AACAAACAAC TCCAGGTCCA
T
G
G
G
C
T
G
G
A
T
8000 |
REPEAT
C
A
C
C
T
C
T
A
A
G
G
G
T
C
C
C
T
C
C
T
A
A
C
T
C
G
G
A
T
A
T
T
C
T
G
G
C
A
T
T
ATCTTAGAAA
8050
A
G
GAAGGCTT GTCTAAGTCC TCAGGGCTCT GCCAAGCCCA GAGGGGCCAC
8100 |
var(8052):[A:0.02]
TATTTTGAGG ATTCGTGTGA AGATTTGTTC CCTGATGGTC TTCAACTGTC
8150
ATTTGGTGGG GAGGGAGTGG CCCAACAGGT TTCCCTGGGT CCCCTTTCCC
8200
AAGTCACCTT TTCCCATGTC CTCTGATCTT GCTTCTCTCC ATTCTCCTTC
8250
TCAG
T
C
C
C
T
T
G
T
C
C
T
T
T
T
G
C
C
C
T
T
T
G
A
T
G
A
C
C
T
G
A
A
G
A
T
C
T
C
A
G
G
G
A
A
A
C
8300 | Exon 6 |
UTR
T
G
C
T
G
C
T
G
T
G
T
A
C
C
G
A
C
T
G
A
A
G
C
C
A
G
G
C
A
G
G
G
T
C
T
G
G
G
A
T
C
C
T
C
A
G
G
G
C
T
8350
C
C
A
C
C
T
C
T
C
C
A
T
C
T
G
G
A
A
G
C
C
G
G
A
G
C
C
A
T
A
A
C
T
G
C
T
G
C
A
G
T
T
T
G
G
G
C
C
C
A
8400
G
G
C
T
A
T
G
T
G
C
T
C
T
T
C
T
G
G
T
G
C
C
C
T
A
G
G
G
A
C
T
G
C
T
G
T
G
G
C
C
A
G
A
G
C
C
T
G
G
G
8450
G
C
C
A
G
C
C
A
G
T
A
C
A
G
T
C
C
T
G
A
G
C
C
G
A
G
G
A
G
G
A
G
G
G
A
C
T
G
C
A
A
G
T
G
G
A
A
G
A
G
8500 |
var(8473):[T:0.01]
A
G
C
C
A
G
T
C
T
G
G
A
A
G
G
A
A
G
A
G
C
T
T
T
C
C
A
G
G
T
G
G
A
C
A
G
G
G
C
T
T
C
T
T
G
G
A
A
G
A
8550 |
var(8522):[A:0.01]
C
C
C
C
C
A
A
A
G
C
C
C
C
A
G
G
T
A
T
C
C
T
G
G
G
T
G
A
A
G
C
C
T
G
T
T
T
G
C
C
T
C
T
C
T
T
G
A
A
A
8600
A
T
G
G
C
A
G
G
T
G
C
T
C
T
T
G
T
T
T
T
A
C
C
C
A
T
G
T
T
G
G
G
T
C
A
G
C
C
T
G
A
A
A
C
T
G
C
C
A
A
8650
C
C
A
G
T
A
G
G
A
A
G
C
A
T
G
G
A
C
T
C
T
C
C
T
G
A
G
T
G
A
G
A
A
G
A
G
A
C
T
G
A
A
A
T
A
G
G
A
G
C
8700
A
A
G
C
A
G
A
A
C
C
C
T
G
A
G
A
G
G
T
G
T
C
C
C
A
T
C
T
T
A
T
T
G
C
T
G
T
T
G
A
G
G
A
C
C
C
T
G
A
A
8750
A
C
A
C
C
G
T
T
G
T
T
T
A
A
A
G
A
C
T
T
C
A
C
A
C
A
G
A
A
G
G
C
T
C
T
G
A
A
C
T
G
A
G
C
C
A
C
T
G
G
8800
G
G
A
A
G
G
G
A
A
G
T
T
T
C
A
G
T
A
A
C
A
T
G
A
C
A
C
T
A
A
A
A
T
G
G
C
A
G
A
G
A
C
G
T
T
A
A
A
A
A
8850 |
var(8843):[A:0.05]
A
A
GTTTTTCC CTTCTAGAGC TGTTTTGCGC GCATGCATGT CTGTGTGCAT
8900
TGGGGCTTTT TAGACAGGCC TGCCCTGTGA CTTTGTGGTA GAGGCAGAGA
8950
GAAGGAAATT GTCCCCTGAG CACGGTAGGG CCTTGCTGGG TGGGGTCAGA
9000
GGCCAGTAGT TCCAGGCCTT TCTCTGTGTC CAGCACAGAC CCTTGTCCTT
9050
GCTGTGGAAA TGATGAGGGA TGGAGGGACA
A
GAGGAAGAA TGAGAGGACA
9100 |
var(9081):[G:0.11]
CACGCCCTGG AGCCCTCACC ACTGCCCTGG GGGTTGCCAT CTGGAGGAGC
9150
CTGGGGATAA GGGTAACCCA GGGAGGCTGG GCACGAGGGA GCTGACTCCA
9200
CGTTTTTCCC CCCGTTCCTC ACCTTCGAGG GCCCTGCTAG GTCACCCCTA
9250
T
GCTGGCA
T
G AAGAGCATGG GGC
A
A
T
A
A
A
C
C
A
G
C
A
C
A
G
T
C
T
C
T
G
A
C
C
A
C
T
9300 |
var(9251):[C:0.02]
|
var(9259):[C:0.03]
|
REPEAT
T
G
G
A
G
C
G
T
C
T
C
A
T
C
C
A
G
T
G
A
G
A
G
A
G
A
C
A
G
C
C
G
T
T
A
A
A
A
G
C
A
T
A
A
A
C
A
T
C
C
9350
A
A
A
T
A
A
A
G
A
T
G
C
C
T
T
T
C
C
A
A
G
T
T
G
C
A
G
T
G
G
G
T
G
C
T
A
T
G
A
A
G
G
G
A
A
A
A
G
A
A
9400
T
A
G
T
G
G
G
A
A
G
G
A
A
A
A
A
G
G
A
T
G
G
A
G
T
C
G
G
T
A
G
A
G
G
G
T
C
A
T
A
C
T
T
T
G
G
G
T
G
G
9450 |
var(9416):[:0.96]
T
C
C
G
G
G
A
A
C
C
C
T
C
G
C
C
T
G
A
G
G
A
G
T
A
T
C
A
T
C
T
C
A
A
C
T
G
G
G
A
T
G
T
A
A
G
G
A
T
G
9500
A
G
T
A
A
A
G
G
G
A
T
G
G
G
G
G
C
A
G
A
G
C
A
T
T
A
G
G
G
G
G
A
A
A
G
C
C
T
G
T
G
A
A
T
T
A
G
A
G
G
9550 |
NOT SCANNED
A
A
C
T
G
A
G
A
G
C
A
A
G
C
C
A
G
T
G
G
G
G
C
T
T
C
A
C
A
G
C
G
G
G
C
G
A
G
T
G
A
G
T
G
G
G
C
G
A
G
9600
G
A
A
C
G
C
G
G
G
C
G
A
G
G
C
C
A
T
G
T
A
G
A
G
C
C
T
C
G
A
A
G
A
T
C
A
T
G
G
G
A
A
G
T
G
G
G
A
C
A
9650
G
A
A
T
T
A
C
T
A
C
C
C
A
G
C
C
A
A
C
A
A
A
G
C
A
A
G
G
A
G
A
C
A
C
C
T
T
C
A
T
C
C
T
G
T
C
A
G
A
A
9700
A
A
C
G
G
G
G
A
A
A
C
T
A
A
C
A
C
A
G
A
G
G
A
G
C
G
G
C
T
T
G
G
G
A
T
G
C
A
G
A
G
C
C
T
C
A
A
T
G
T
9750
C
C
T
G
T
C
C
A
C
A
A
G
A
T
G
G
C
A
A
T
G
G
T
C
A
C
C
A
T
G
A
C
C
T
C
T
G
G
G
A
C
G
C
T
T
A
T
G
A
A
9800
G
G
G
C
G
A
T
G
A
C
G
A
A
G
C
A
C
A
G
G
G
G
A
C
A
C
G
C
C
G
G
G
C
G
G
G
C
G
C
C
T
C
T
T
C
A
G
G
G
C
9850
T
G
G
G
G
C
T
C
C
C
C
G
C
G
C
C
C
A
G
G
G
G
C
A
G
C
C
C
A
G
G
T
C
C
C
C
G
G
A
A
C
C
C
A
A
G
C
C
G
C
9900
G
T
C
T
G
C
C
T
C
C
G
G
G
C
C
G
C
G
C
G
G
G
G
G
C
G
C
T
G
T
G
G
T
C
C
G
G
C
G
G
C
G
G
C
C
C
G
G
G
G
9950
C
G
C
T
G
C
G
T
G
G
T
C
G
C
G
G
C
A
G
G
G
G
C
G
G
A
G
G
G
G
G
C
C
G
C
G
G
G
G
A
G
G
G
A
G
G
C
G
G
G
10000
A
A
G
A
G
C
G
C
G
G
C
A
C
T
T
C
C
G
C
T
G
G
C
C
G
C
T
G
G
C
T
C
G
C
T
G
G
C
C
G
C
T
C
C
T
G
G
A
G
G
10050
C
G
G
C
G
G
C
G
G
G
A
G
C
G
C
A
G
G
G
G
G
C
G
C
G
C
G
G
C
C
C
G
G
G
G
A
C
T
C
G
C
A
T
T
C
C
C
C
G
G
10100
T
T
C
C
C
C
C
T
C
C
A
C
C
C
C
A
C
G
C
G
G
C
C
T
G
G
A
C
C
A
T
G
G
A
C
G
C
C
A
G
G
T
G
G
G
G
G
C
T
A
10150
G
G
G
C
A
G
C
A
G
C
G
A
G
C
T
C
A
C
G
T
G
A
C
C
G
A
G
C
C
C
C
C
G
G
G
C
C
A
C
G
T
G
A
C
T
G
C
C
G
C
10200
G
C
C
T
C
A
G
C
A
C
G
G
G
G
G
C
C
G
G
G
T
G
G
G
G
T
C
C
C
G
G
C
T
G
C
T
C
G
G
C
C
G
T
C
G
G
C
C
A
G
10250
C
A
T
A
T
C
G
C
T