FOSB 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
TCAGATTCAT GAACCCCATT TGCTAAGAAG ATTTGCTCAG GTAGTCACCT
50
GTACCCCTGT GAGCCAAGAT TGCAACAGTA CATGCTAAGA GCAGTAAGAA
100
GGAG
T
TTGTA AAGCTTAGAA AGACCTGACA
G
G
C
C
A
G
G
C
G
C
T
G
T
G
G
C
T
C
A
C
150 |
var(105):[A:0.01]
|
REPEAT
G
C
C
T
G
T
A
A
T
C
T
C
G
A
C
A
C
T
T
C
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
C
G
G
A
T
C
A
C
C
A
G
G
T
C
200 |
var(163):[A:0.01]
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
T
C
C
T
G
A
C
C
A
A
T
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
G
T
A
C
T
A
A
250
A
C
A
T
A
T
A
A
A
A
A
T
T
A
G
C
T
T
G
A
C
G
T
G
G
T
G
G
C
C
C
G
C
G
C
C
T
G
T
A
G
T
C
C
A
G
C
A
A
C
300 |
var(283):[G:0.01]
T
C
G
A
G
A
G
G
C
T
A
A
G
G
T
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
C
A
C
T
G
350
C
A
C
T
C
C
A
G
C
C
T
G
G
C
G
G
C
A
G
A
G
C
A
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
400
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GACCTG ACAAGTGAAA GCTACTAATA TTGCCATTAT
450
CATTTAAAAA AA
A
CCCCAGA CACAGGTTTT TCAGGGAGTT TC
A
TCCAACC
500 |
var(463):[:0.64]
|
var(493):[G:0.06]
AGGCAGGTCT CAGAAAT
C
A
G
A
A
A
A
G
A
A
A
T
G
G
A
A
A
G
G
G
T
A
G
G
A
A
A
T
C
T
G
G
A
550 |
REPEAT
G
T
T
T
G
A
C
A
A
T
T
C
T
G
A
G
T
T
T
G
A
A
T
T
T
C
T
T
G
T
G
A
T
G
G
G
A
T
C
T
T
G
G
G
C
A
A
G
T
C
600
A
T
T
T
A
A
C
C
T
C
C
C
T
G
A
G
T
A
T
C
A
T
T
T
T
T
T
T
C
T
T
T
T
A
T
A
A
A
A
T
G
A
A
G
A
T
T
T
T
T
650
C
T
C
T
C
T
T
A
A
C
C
T
T
C
C
A
G
A
G
C
T
G
T
T
T
T
A
A
G
G
A
T
T
A
C
A
A
A
T
C
T
T
C
T
A
C
T
G
A
A
700
A
G
G
C
G
T
A
G
C
A
C
A
G
G
A
G
C
T
G
T
G
C
T
T
G
G
C
A
A
G
T
G
C
C
A
A
A
T
A
C
A
A
G
G
C
A
T
T
A
A
750
T
T
A
T
T
A
T
T
AT TAGAATTAAT AATAATATCC CCTCCCTCTT ACACATTCTT
800
TGTCTCCGGG TGGATTAAAA GGTGGAAGGA GAGGCTACCA ACACCATCAG
850
AAGAGAGGCT TCTCTCTAAG TTTCATTTCC CATCTCCTCC AAATCCGCAT
900
CCCTCCCAAA CGCCGGACCT GTAA
G
GCCAG CAGGGTCCAA GACACACATC
950 |
var(925):[C:0.13]
CTTTGCCCAG CGGGGAAGAT TA
A
A
G
C
T
A
A
A
G
C
T
C
A
G
A
G
A
G
G
G
A
A
A
A
C
A
T
T
1000 |
REPEAT
T
C
C
T
A
A
G
C
T
C
G
C
A
C
A
G
C
G
A
A
T
C
A
G
G
A
C
A
G
A
A
A
C
C
A
G
G
A
C
G
A
G
C
C
T
C
G
G
A
A
1050
T
C
C
C
T
C
C
A
TT ACCTCCACTT TCACCTGAGC ATCACAGCCC GCTCGGGACT
1100
CAGTTTCCCC ACCTACGTGA CCACACCACA CTAATCAGGG TCTCCTTTTG
1150
GAGATCTGCT CTTCTTCTCG AATGGGGGCG CTGCACCATC GGTAGAACAG
1200
GGTAGGTGGG GGCGCCAGAG GTGAAGGGGA CCTGCAGGCT GGGGTCTTCC
1250
CCGCCCGGGT CAGCGGGGTC CCTGCGGGGC TAGTCTAAGC GCCTATTATT
1300
ACCAGCCCCC
G
GGGCGGCGT TGCACTGCGC AGGCGCGGGC GGGGCGCGGG
1350 |
var(1311):[A:0.01]
CGCGCGCGCG AGCGAGCGAG GGATTCCCTC TGACGTCATT GCTAGGATAC
1400
CAAACAAACA CTCCGCCGCG CCGGCCGAGC TCCTTATATG GCTAATTGCG
1450
TCACAGGAAC TCCGGGAAGG CGGGGCCGGG ATCCCCTCCC GCCGAGTGGC
1500
CCGGAACGCA ACCCCCGAGA CCC
C
CAGGGC CCCGAGGGTC ATGCAA
G
TGA
1550 |
var(1524):[T:0.02]
|
var(1547):[A:0.28]
CCAGATCGAG TCTAGAACAG ACCTCTTGCT GGACAGTGCG GGACTCGATT
1600
TGGCGGGGCC GGAGATTTGG GGAAGTTTGT CCAGCA
A
GGG GCGGGTGACG
1650 |
var(1637):[C:0.01]
TAAGCAGGGG GGCGGGTCCC GGGC
A
TATAA ATACAGGCTG GCGGGTCTGT
1700 |
var(1675):[T:0.01]
GCTT
C
A
T
T
C
A
T
A
A
G
A
C
T
C
A
G
A
G
C
T
A
C
G
G
C
C
A
C
G
G
C
A
G
G
G
A
C
A
C
G
C
G
G
A
A
C
1750 | Exon 1 |
UTR
C
A
A
G
A
C
T
T
G
G
A
A
A
C
T
T
G
A
T
T
G
T
T
G
T
G
G
T
T
C
T
T
C
T
T
G
G
G
G
G
T
T
A
T
G
A
A
A
T
T
1800
T
C
A
T
T
A
A
T
C
T
T
T
T
T
T
T
T
T
T
C
C
G
G
G
G
A
G
A
A
A
G
T
T
T
T
T
G
G
A
A
A
G
A
T
T
C
T
T
C
C
1850 |
var(1819):[:0.36]
A
G
A
T
A
T
T
T
C
T
T
C
A
T
T
T
T
C
T
T
T
T
G
G
A
G
G
A
C
C
G
A
C
T
T
A
C
T
T
T
T
T
T
T
G
G
T
C
T
T
1900
C
T
T
T
A
T
T
A
C
T
C
C
C
C
T
C
C
C
C
C
C
G
T
G
G
G
A
C
C
C
G
C
C
G
G
A
C
G
C
G
T
G
G
A
G
G
A
G
A
C
1950
C
G
T
A
G
C
T
G
A
A
G
C
T
G
A
T
T
C
T
G
T
A
C
A
G
C
G
G
G
A
C
A
G
C
G
C
T
T
T
C
T
G
C
C
C
C
T
G
G
G
2000
G
G
A
G
C
A
A
C
C
C
C
T
C
C
C
T
C
G
C
C
C
C
T
G
G
G
T
C
C
T
A
C
G
G
A
G
C
C
T
G
C
A
C
T
T
T
C
A
A
G
2050
A
G
G
T
A
C
A
G
C
G
G
C
A
T
C
C
T
G
T
G
G
G
G
G
C
C
T
G
G
G
C
A
C
C
G
C
A
G
G
A
A
G
A
C
T
G
C
A
C
A
2100 |
var(2098):[G:0.01]
G
A
A
A
C
T
T
T
G
C
C
A
T
T
G
T
T
G
G
A
A
C
G
G
G
A
C
G
T
T
G
C
T
C
C
T
T
C
C
C
C
G
A
G
C
T
T
C
C
C
2150
C
G
G
A
C
A
G
C
G
T
A
C
T
T
T
G
A
G
G
A
C
T
C
G
C
T
C
A
G
C
T
C
A
C
C
G
G
G
G
A
C
T
C
C
C
A
C
G
G
C
2200
T
C
A
C
C
C
C
G
G
A
C
T
T
G
C
A
C
C
T
T
A
C
T
T
C
C
C
C
A
A
C
C
C
G
G
C
C
A
T
A
G
C
C
T
T
G
G
C
T
T
2250
C
C
C
G
G
C
G
A
C
C
T
C
A
G
C
G
T
G
G
T
C
A
C
A
G
G
G
G
C
C
C
C
C
C
T
G
T
G
C
C
C
A
G
G
G
A
A
A
T
G
2300
M 1
T
T
T
C
A
G
G
C
T
T
T
C
C
C
C
G
G
A
G
A
C
T
A
C
G
A
C
T
C
C
G
G
C
T
C
C
C
G
G
T
G
C
A
G
C
T
C
C
T
C
2350
F Q A F P G D Y D S G S R C S S S 18
A
C
C
C
T
C
T
G
C
C
G
A
G
T
C
T
C
A
A
T
A
T
C
T
G
T
C
T
T
C
G
G
T
G
G
A
C
T
C
C
T
T
C
G
G
C
A
G
T
C
2400 |
var(2394):[A:0.01]
P S A E S Q Y L S S V D S F G S 34
C
A
C
C
C
A
C
C
G
C
C
G
C
C
G
C
C
T
C
C
C
A
G
GTAAGTT TTTGATAGTA GGGGTGCTGC
2450 |
var(2414):[G:0.36]
P P T A A A S Q 42
TTTGTAGGTT TTATTTTTTA AGTCAAGGGT GAAAAGAA
T
A
A
A
C
C
C
C
A
A
C
C
2500 |
NOT SCANNED
C
C
C
A
C
A
A
A
A
A
G
G
C
G
C
A
T
C
A
G
A
A
C
C
C
T
A
G
A
T
C
T
G
A
G
A
T
G
G
A
A
A
A
G
G
C
T
C
A
C
2550
A
G
C
G
C
A
C
T
T
T
G
C
A
A
A
C
T
G
C
A
A
A
G
A
G
T
C
G
G
G
A
G
A
T
G
T
T
T
G
C
A
A
T
T
G
G
T
T
G
C
2600
G
T
G
C
G
T
G
G
A
G
C
G
C
A
A
G
G
A
G
G
G
A
A
C
G
C
G
G
C
A
G
G
G
A
G
G
G
T
A
G
G
C
T
T
T
G
G
G
G
C
2650
G
A
G
G
T
G
G
G
G
G
T
G
G
G
G
T
G
G
G
T
A
A
T
G
C
G
C
T
G
C
T
C
A
A
T
G
C
A
A
C
G
T
G
T
A
T
G
C
G
G
2700
T
A
G
C
G
G
G
G
C
T
G
A
G
A
A
C
T
T
T
G
A
G
C
C
G
G
C
C
C
C
G
G
G
A
C
T
G
C
C
C
C
C
T
G
C
T
C
G
G
G
2750
T
C
C
C
A
G
A
C
C
T
G
A
A
G
C
T
A
G
C
G
C
A
G
T
T
A
G
G
C
A
G
G
T
G
G
G
G
G
A
A
A
T
C
C
C
G
G
G
G
A
2800
A
G
C
T
T
C
C
A
G
C
A
G
T
C
T
C
T
T
T
T
C
C
T
T
T
C
C
T
C
C
T
C
C
T
T
C
G
G
A
G
C
G
C
C
C
A
C
T
T
C
2850
G
G
T
G
C
C
G
G
G
T
C
G
C
C
C
T
C
C
A
C
C
C
A
T
C
G
G
G
A
A
G
A
G
G
G
G
C
C
T
C
G
A
A
C
C
C
T
C
A
G
2900
C
C
G
C
G
C
T
G
C
C
T
C
C
G
C
C
T
C
C
T
G
C
G
C
G
G
A
G
A
C
G
T
A
A
C
G
G
G
G
G
A
C
C
C
G
T
G
C
G
T
2950
A
A
C
G
G
C
T
G
A
C
G
C
G
C
T
G
G
A
A
T
C
C
T
C
C
G
T
C
T
G
A
C
G
C
G
G
G
G
C
A
C
G
C
A
C
G
G
C
G
C
3000
G
C
G
G
C
G
C
C
C
C
C
T
T
C
G
T
C
C
G
C
C
C
C
G
C
C
C
C
T
G
A
C
G
T
C
C
C
G
G
G
A
G
C
G
T
T
C
T
A
T
3050
T
T
T
G
G
A
A
C
G
C
C
G
G
G
G
C
C
A
C
G
T
T
G
C
T
A
A
G
G
G
A
G
G
G
G
G
C
A
G
C
C
C
G
G
C
G
T
T
T
C
3100
G
A
T
T
G
G
C
C
G
C
C
G
G
G
G
C
G
C
A
C
G
C
C
T
T
G
G
C
C
A
A
T
C
A
G
C
T
T
T
C
C
C
T
T
C
C
T
A
T
T
3150
T
G
T
A
G
G
G
T
G
C
A
T
T
T
T
C
C
T
T
C
C
C
C
C
C
T
C
T
C
T
G
T
C
C
C
C
G
G
A
A
C
C
C
G
T
G
G
T
T
C
3200
C
T
T
G
G
C
G
G
C
T
G
G
G
T
C
T
C
T
T
T
T
C
G
G
C
G
C
CTC TAGAGGCAGA GGGAGGGGAT
3250
CCCTGTCGTG ACAAGAGCGC CTGTCTGCGA CCCAATGGAT CTGCGAGGCC
3300
CTTGCGGGGA TCT
G
GTCCCT GGGCTCTCAG GAG
C
AGGGGG TGTCTGCTTG
3350 |
var(3314):[A:0.31]
|
var(3334):[A:0.35]
TGTGCTGGCG TTTCTTGGAG AGATACGGTG GCTGTCACCC TCTTCTCCAG
3400
G
CACACACAG ACACATTCCC ACTCCCTCTG CTCCTCATGC CCGGTTCCTC
3450 |
var(3401):[A:0.01]
C
GGTGTGTCC CAAGACAGGA CTAGAACCGC GAACCGAAGG GCAACCAGCC
3500 |
var(3451):[T:0.01]
AGGTGGTC
T
C CAGGAGCTCC GCCCCCTCTG GGTTCCCAGG ACTCTGATTG
3550 |
var(3509):[C:0.26]
GTCGGCGAGC CAGCCCTTCC CTCACCACGC CCCCCGAGAG AGTAGTTAAG
3600
CCTTCAGAGC AGTTCCAG
G
A GTCCATTTAC GGGAGGGGGG AGATGAGCGC
3650 |
var(3619):[C:0.30]
TGCTGAGGCT TGGGGGCTCA GGTCCCGCAC CATTCCCCCT CCGCGACAAT
3700
CTGAGAGAGC TCCAGTGGTT ACTTTTATCT ACCTGTCCGT TCACCCTAAA
3750
CTGTCACTCG TCAGTCTCAC TCTGAGAAGA GACAGTAACT TGAAACGTTG
3800
TTCTAAACTC CTAGGCCCGT CCCCCAAACA CCCTTTTGAC TGGGACCCCC
3850
GCCCCTGCAT GGGACCTCGC GCAGAGGGGG GTGTGTATGT GTGTGAGTGT
3900
AGAGGAAGGC TTGGCCTAAG GCCTCTCCTT CTCCCTCCCC TTGCCTCTGG
3950
GGTGGGGGTG GGGTGTTGTG GCTGTGTGTG TGGCTGTGGC TCCGTCCCGG
4000
GGGTTCTGTC ACCCGGCTGT GTCCAGCCTC CTCTCCACCC CCCATACCTA
4050
AGAGTCACCA ACCCGGGGTG TGATTCACCA CCCGCTGGAA CCGTGCAACC
4100
TTTCCCCGAG GAAGAAGGAG GAGGTAGAAG CCAGTTGAGC AGAAATCCTC
4150
TCATTAACCA CTGCGTCACG GTGTAGTGGA AGGGTGGGTG TTGTGGCTTT
4200
T
TCCCTGTGA CACACACATC CACACTCGCT CACCCTGTGC TCACTCACGG
4250 |
var(4201):[C:0.02]
GGTCGGTGTG TGTTATGTGT GTTGGGTGTG TGTGTGTCGG TGTCTTTGTT
4300
TGTGTGTCTA CGCCTGTGTG TGTATGTGTC ACCCCGTAG
G
A
G
T
G
C
G
C
C
G
G
4350 | Exon 2
E C A G 46
T
C
T
C
G
G
G
G
A
A
A
T
G
C
C
C
G
G
T
T
C
C
T
T
C
G
T
G
C
C
C
A
C
G
G
T
C
A
C
C
G
C
G
A
T
C
A
C
A
A
4400
L G E M P G S F V P T V T A I T 62
C
C
A
G
C
C
A
G
G
A
C
C
T
C
C
A
G
T
G
G
C
T
T
G
T
G
C
A
A
C
C
C
A
C
C
C
T
C
A
T
C
T
C
T
T
C
C
A
T
G
4450
T S Q D L Q W L V Q P T L I S S M 79
G
C
C
C
A
G
T
C
C
C
A
G
G
G
G
C
A
G
C
C
A
C
T
G
G
C
C
T
C
C
C
A
G
C
C
C
C
C
G
G
T
C
G
T
C
G
A
C
C
C
4500
A Q S Q G Q P L A S Q P P V V D P 96
C
T
A
C
G
A
C
A
T
G
C
C
G
G
G
A
A
C
C
A
G
C
T
A
C
T
C
C
A
C
A
C
C
A
G
G
C
A
T
G
A
G
T
G
G
C
T
A
C
A
4550
Y D M P G T S Y S T P G M S G Y 112
G
C
A
G
T
G
G
C
G
G
A
G
C
G
A
G
T
G
G
C
A
G
T
G
G
T
G
G
G
C
C
T
T
C
C
A
C
C
A
G
C
G
G
A
A
C
T
A
C
C
4600
S S G G A S G S G G P S T S G T T 129
A
G
T
G
G
G
C
C
T
G
G
G
C
C
T
G
C
C
C
G
C
C
C
A
G
C
C
C
G
A
G
C
C
C
G
G
C
C
T
A
G
G
A
G
A
C
C
C
C
G
4650
S G P G P A R P A R A R P R R P R 146
A
G
A
G
G
A
G
A
C
G
GTGAGTAAGG GACATCAGAA CTTGGCCTGG GTAGGGGGAA
4700
E E T 149
GCAAGAGAGG CAGGAAGTTT CTTATGAATG GAGGGGGGCT CCACTAAGGC
4750
CTCAGTGTTA CAGAAACCCC AAGATCCTTG CTACACGAGC GAGGACCGGA
4800
GGCTTGTTTT TTGGCTCTTG GGGGTTCTGA AAGAAGTAGA GGTTCGGGAT
4850
GGGTGGAGGA GTGCTGTATC CCCAAATCTC ATGG
C
CTCTA TCTCCCTGAC
4900 |
var(4885):[T:0.02]
TCAG
C
T
C
A
C
C
C
C
A
G
A
G
G
A
A
G
A
G
G
A
G
A
A
G
C
G
A
A
G
G
G
T
G
C
G
C
C
G
G
G
A
A
C
G
A
A
4950 | Exon 3
L T P E E E E K R R V R R E R 164
A
T
A
A
A
C
T
A
G
C
A
G
C
A
G
C
T
A
A
A
T
G
C
A
G
G
A
A
C
C
G
G
C
G
G
A
G
G
G
A
G
C
T
G
A
C
C
G
A
C
5000
N K L A A A K C R N R R R E L T D 181
C
G
A
C
T
C
C
A
G
G
C
G
GTGAGGAC AGGCCCTGGG GTGGGAGAGG GGATG
C
TGAG
5050 |
var(5046):[T:0.34]
R L Q A 185
GGGAGCTCTC TCCCCATTCT CTGCCCCCTC TCCACCTGTA CCCTTATCCT
5100
GG
G
TTGAGAA CTAGACGTTC
T
ACACATGGA ACTAGGTACT GCTGTGGCCA
5150 |
var(5103):[:0.02]
|
var(5121):[C:0.36]
G
ACTGGGTAG CCCAGGGCAC AAACACAGAC CCCCATGGAC TTAAGTCAAC
5200 |
var(5151):[C:0.09]
TCCTGGTCCC CCCC
C
CCATT TCCTGACCCC ACGGACTACT CTCCTAGCCT
5250 |
var(5215):[G:0.01]
TCATTTCATC CC
G
AGGGGCC ACATGGGGCC CTTGAGGAGA GGGGCGCCCC
5300 |
var(5263):[A:0.34]
CATCATTTCT CCCATCTGGT CTTCAGCAAG TAACAACCCA TTTTGCCTCA
5350
GTTTCTCCAT CTCTGCAAAC CCTCATCAAA TCTCC
C
GGGC TCTTTCTACC
5400 |
var(5386):[T:0.03]
CTTAACACTC TGGAAAGCCT GTGAAATGAA ATTATTCCAC CTCCTGCCCT
5450
AGCCACCCAC AGCTCTCCTG GTGCTGGTGG CATCC
C
CCAA AACCCACTCC
5500 |
var(5486):[T:0.01]
CTTCCTACGT CCTCCCTTGG TCTGAGAGTT CCCTGCTGTA TGCCTGCAGG
5550
GTGAGCTGTT ACTCCTTGAG GGAACAAGGG AATTGTCAAC TTTCCTTCTC
5600
TACTTTTTCT CTTCCC
C
GGG AGGTAGAGAG GGAGGGGTAA TAGAAGGGAA
5650 |
var(5617):[G:0.01]
CACATTAAAA ACACATAA
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
G
A
T
C
C
C
A
G
C
A
C
T
T
T
G
5700 |
REPEAT
A
G
A
G
G
C
C
A
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
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
5750 |
var(5736):[A:0.10]
G
G
G
A
A
A
C
A
T
A
G
G
G
A
G
G
A
C
T
T
G
T
C
T
C
T
A
C
C
A
A
G
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
T
T
G
5800
G
G
C
A
T
G
G
T
G
G
T
G
C
A
C
A
C
C
A
C
T
G
T
G
G
T
C
C
C
A
G
C
T
A
C
T
A
T
G
G
A
G
G
C
T
T
T
A
G
T
5850
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
G
A
G
G
A
G
G
T
C
C
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
A
T
T
G
5900
C
A
C
T
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
G
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
T
G
G
C
T
C
A
A
A
A
G
C
5950
A
A
A
A
C
A
A
A
A
C CAACCACATA ACGATTGTTC ATTCATTCAA CAAACCTCCT
6000
GCACACCAGA AACTTCCCCA TAAACCTGGC CCCTTCTG
T
A
C
C
A
T
C
C
T
T
T
G
6050 |
REPEAT
G
A
C
A
G
A
T
G
G
G
G
G
A
A
A
C
T
G
A
G
G
T
T
C
C
T
G
G
A
A
G
G
C
A
A
G
A
C
C
C
T
T
G
C
C
C
C
A
A
C
6100
T
C
C
C
A
T
G
G
C
C
A
CCAGGACTC CATCTCAGGA GGTGTTTTTT CTCAGCCCGG
6150
GGCTGCCTTC CAGCAGCAAG TCCAAGGGAG CCATGACCCG AGTTTCCCGG
6200
TCACTGACAT GCTTTTTTCT CCTTCCTCTC TCTCTTCTGT GACCTGGCCT
6250
CCCTGGCCTC AG
G
A
G
A
C
A
G
A
T
C
A
G
T
T
G
G
A
G
G
A
A
G
A
A
A
A
A
G
C
A
G
A
G
C
T
G
G
A
6300 | Exon 4
E T D Q L E E E K A E L E 198
G
T
C
G
G
A
G
A
T
C
G
C
C
G
A
G
C
T
C
C
A
A
A
A
G
G
A
G
A
A
G
G
A
A
C
G
T
C
T
G
G
A
G
T
T
T
G
T
G
C
6350
S E I A E L Q K E K E R L E F V 214
T
G
G
T
G
G
C
C
C
A
C
A
A
A
C
C
G
G
G
C
T
G
C
A
A
G
A
T
C
C
C
C
T
A
C
G
A
A
G
A
G
G
G
G
C
C
C
G
G
G
6400
L V A H K P G C K I P Y E E G P G 231
C
C
G
G
G
C
C
C
G
C
T
G
G
C
G
G
A
G
G
T
G
A
G
A
G
A
T
T
T
G
C
C
G
G
G
C
T
C
A
G
C
A
C
C
G
G
C
T
A
A
6450
P G P L A E V R D L P G S A P A K 248
G
G
A
A
G
A
T
G
G
C
T
T
C
A
G
C
T
G
G
C
T
G
C
T
G
C
C
G
C
C
C
C
C
G
C
C
A
C
C
A
C
C
G
C
C
C
C
T
G
C
6500
E D G F S W L L P P P P P P P L 264
C
C
T
T
C
C
A
G
A
C
C
A
G
C
C
A
A
G
A
C
G
C
A
C
C
C
C
C
C
A
A
C
C
T
G
A
C
G
G
C
T
T
C
T
C
T
C
T
T
T
6550
P F Q T S Q D A P P N L T A S L F 281
A
C
A
C
A
C
A
G
T
G
A
A
G
T
T
C
A
A
G
T
C
C
T
C
G
G
C
G
A
C
C
C
C
T
T
C
C
C
C
G
T
T
G
T
T
A
A
C
C
C
6600
T H S E V Q V L G D P F P V V N P 298
T
T
C
G
T
A
C
A
C
T
T
C
T
T
C
G
T
T
T
G
T
C
C
T
C
A
C
C
T
G
C
C
C
G
G
A
G
G
T
C
T
C
C
G
C
G
T
T
C
G
6650
S Y T S S F V L T C P E V S A F 314
C
C
G
G
C
G
C
C
C
A
A
C
G
C
A
C
C
A
G
C
G
G
C
A
G
T
G
A
C
C
A
G
C
C
T
T
C
C
G
A
T
C
C
C
C
T
G
A
A
C
6700
A G A Q R T S G S D Q P S D P L N 331
T
C
G
C
C
C
T
C
C
C
T
C
C
T
C
G
C
T
C
T
G
T
G
A
A
C
T
C
T
T
T
A
G
A
C
A
C
A
C
A
A
A
A
C
A
A
A
C
A
A
6750 |
UTR
S P S L L A L 338
A
C
A
C
A
T
G
G
G
G
G
A
G
A
G
A
G
A
C
T
T
G
G
A
A
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
A
A
G
G
A
G
G
6800
A
G
A
G
A
G
A
G
G
G
G
A
A
G
A
G
A
C
A
A
A
G
T
G
G
G
T
G
T
G
T
G
G
C
C
T
C
C
C
T
G
G
C
T
C
C
T
C
C
G
6850
T
C
T
G
A
C
C
C
T
C
T
G
C
G
G
C
C
A
C
T
G
C
G
C
C
A
C
T
G
C
C
A
T
C
G
G
A
C
A
G
G
A
G
G
A
T
T
C
C
T
6900 |
var(6885):[C:0.03]
T
G
T
G
T
T
T
T
G
T
C
C
T
G
C
C
T
C
T
T
G
T
T
T
C
T
G
T
G
C
C
C
C
G
G
C
G
A
G
G
C
C
G
G
A
G
A
G
C
T
6950
G
G
T
G
A
C
T
T
T
G
G
G
G
A
C
A
G
G
G
G
G
T
G
G
G
A
A
G
G
G
G
A
T
G
G
A
C
A
C
C
C
C
C
A
G
C
T
G
A
C
7000 |
var(6958):[C:0.01]
|
var(6975):[A:0.01]
T
G
T
T
G
G
C
T
C
T
C
T
G
A
C
G
T
C
A
A
C
C
C
A
A
G
C
T
C
T
G
G
G
G
A
T
G
G
G
T
G
G
G
G
A
G
G
G
G
G
7050
G
C
G
G
G
T
G
A
C
G
C
C
C
A
C
C
T
T
C
G
G
G
C
A
G
T
C
C
T
G
T
G
T
G
A
G
G
A
T
G
A
A
G
G
G
A
C
G
G
G
7100 |
var(7081):[C:0.01]
|
var(7090):[T:0.39]
G
G
T
G
G
G
A
G
G
T
A
G
G
C
T
G
T
G
G
G
G
T
G
G
G
C
T
G
G
A
G
T
C
C
T
C
T
C
C
A
G
A
G
A
G
G
C
T
C
A
7150
A
C
A
A
G
G
A
A
A
A
A
T
G
C
C
A
C
T
C
C
C
T
A
C
C
C
A
A
T
G
T
C
T
C
C
C
A
C
A
C
C
C
A
C
C
C
T
T
T
T
7200 |
var(7172):[C:0.28]
T
T
T
G
G
G
G
T
G
C
C
T
A
G
G
T
T
G
G
T
T
T
C
C
C
C
T
G
C
A
C
T
C
C
C
G
A
C
C
T
T
A
G
C
T
T
A
T
T
G
7250 |
var(7212):[C:0.15]
|
var(7213):[T:0.02]
A
T
C
C
C
A
C
A
T
T
T
C
C
A
T
G
G
T
G
T
G
A
G
A
T
C
C
T
C
T
T
T
A
C
T
C
T
G
G
G
C
A
G
A
A
G
T
G
A
G
7300
C
C
C
C
C
C
C
C
T
T
A
A
A
G
G
G
A
A
T
T
C
G
A
T
G
C
C
C
C
C
C
T
A
G
A
A
T
A
A
T
C
T
C
A
T
C
C
C
C
C
7350 |
var(7308):[:0.70]
C
A
C
C
C
G
A
C
T
T
C
T
T
T
T
G
A
A
A
T
G
T
G
A
A
C
G
T
C
C
T
T
C
C
T
T
G
A
C
T
G
T
C
T
A
G
C
C
A
C
7400 |
var(7384):[G:0.02]
T
C
C
C
T
C
C
C
A
G
A
A
A
A
A
C
T
G
G
C
T
C
T
G
A
T
T
G
G
A
A
T
T
T
C
T
G
G
C
C
T
C
C
T
A
A
G
G
C
T
7450
C
C
C
C
A
C
C
C
C
G
A
A
A
T
C
A
G
C
C
C
C
C
A
G
C
C
T
T
G
T
T
T
C
T
G
A
T
G
A
C
A
G
T
G
T
T
A
T
C
C
7500
C
A
A
G
A
C
C
C
T
G
C
C
C
C
C
T
G
C
C
A
G
C
C
G
A
C
C
C
T
C
C
T
G
G
C
C
T
T
C
C
T
C
G
T
T
G
G
G
C
C
7550
G
C
T
C
T
G
A
T
T
T
C
A
G
G
C
A
G
C
A
G
G
G
G
C
T
G
C
T
G
T
G
A
T
G
C
C
G
T
C
C
T
G
C
T
G
G
A
G
T
G
7600
A
T
T
T
A
T
A
C
T
G
T
G
A
A
A
T
G
A
G
T
T
G
G
C
C
A
G
A
T
T
G
T
G
G
G
G
T
G
C
A
G
C
T
G
G
G
T
G
G
G
7650 |
var(7618):[G:0.02]
G
C
A
G
C
A
C
A
C
C
T
C
T
G
G
G
G
G
G
A
T
A
A
T
G
T
C
C
C
C
A
C
T
C
C
C
G
A
A
A
G
C
C
T
T
T
C
C
T
C
7700
G
G
T
C
T
C
C
C
T
T
C
C
G
T
C
C
A
T
C
C
C
C
C
T
T
C
T
T
C
C
T
C
C
C
C
T
C
A
A
C
A
G
T
G
A
G
T
T
A
G
7750
A
C
T
C
A
A
G
G
G
G
G
T
G
A
C
A
G
A
A
C
C
G
A
G
A
A
G
G
G
G
G
T
G
A
C
A
G
T
C
C
T
C
C
A
T
C
C
A
C
G
7800
T
G
G
C
C
T
C
T
C
T
C
T
C
T
C
T
C
C
T
C
A
G
G
A
C
C
C
T
C
A
G
C
C
C
T
G
G
C
C
T
T
T
T
T
C
T
T
T
A
A
7850
G
G
T
C
C
C
C
C
G
A
C
C
A
A
T
C
C
C
C
A
G
C
C
T
A
G
G
A
C
G
C
C
A
A
C
T
T
C
T
C
C
C
A
C
C
C
C
T
T
G
7900 |
var(7888):[T:0.01]
G
C
C
C
C
T
C
A
C
A
T
C
C
T
C
T
C
C
A
G
G
A
A
G
G
G
A
G
T
G
A
G
G
G
G
C
T
G
T
G
A
C
A
T
T
T
T
T
C
C
7950 |
var(7926):[C:0.15]
G
G
A
G
A
A
G
A
T
T
T
C
A
G
A
G
C
T
G
A
G
G
C
T
T
T
G
G
T
A
C
C
C
C
C
A
A
A
C
C
C
C
C
A
A
T
A
T
T
T
8000
T
T
G
G
A
C
T
G
G
C
A
G
A
C
T
C
A
A
G
G
G
G
C
T
G
G
A
A
T
C
T
C
A
T
G
A
T
T
C
C
A
T
G
C
C
C
G
A
G
T
8050
C
C
G
C
C
C
A
T
C
C
C
T
G
A
C
C
A
T
G
G
T
T
T
T
G
G
C
T
C
T
C
C
C
A
C
C
C
C
G
C
C
G
T
T
C
C
C
T
G
C
8100
G
C
T
T
C
A
T
C
T
C
A
T
G
A
G
G
A
T
T
T
C
T
T
T
A
T
G
A
G
G
C
A
A
A
T
T
T
A
T
A
T
T
T
T
T
T
A
A
T
A
8150
T
C
G
G
G
G
G
G
T
G
G
A
C
C
A
C
G
C
C
G
C
C
C
T
C
C
A
T
C
C
G
T
G
C
T
G
C
A
T
G
A
A
A
A
A
C
A
T
T
C
8200
C
A
C
G
T
G
C
C
C
C
T
T
G
T
C
G
C
G
C
G
T
C
T
C
C
C
A
T
C
C
T
G
A
T
C
C
C
A
G
A
C
C
C
A
T
T
C
C
T
T
8250
A
G
C
T
A
T
T
T
A
T
C
C
C
T
T
T
C
C
T
G
G
T
T
T
C
C
G
A
A
A
G
G
C
A
A
T
T
A
T
A
T
C
T
A
T
T
A
T
G
T
8300
A
T
A
A
G
T
A
A
A
T
A
T
A
T
T
A
T
A
T
A
T
G
G
A
T
G
T
G
T
G
T
G
T
G
T
G
C
G
T
G
C
G
C
G
T
G
A
G
T
G
8350
T
G
T
G
A
G
C
G
C
T
T
C
T
G
C
A
G
C
C
T
C
G
G
C
C
T
A
G
G
T
C
A
C
G
T
T
G
G
C
C
C
T
C
A
A
A
G
C
G
A
8400
G
C
C
G
T
T
G
A
A
T
T
G
G
A
A
A
C
T
G
C
T
T
C
T
A
G
A
A
A
C
T
C
T
G
G
C
T
C
A
G
C
C
T
G
T
C
T
C
G
G
8450
G
C
T
G
A
C
C
C
T
T
T
T
C
T
G
A
T
C
G
T
C
T
C
G
G
C
C
C
C
T
C
T
G
A
T
T
G
T
T
C
C
C
G
A
T
G
G
T
C
T
8500
C
T
C
T
C
C
C
T
C
T
G
T
C
T
T
T
T
C
T
C
C
T
C
C
G
C
C
T
G
T
G
T
C
C
A
T
C
T
G
A
C
C
G
T
T
T
T
C
A
C
8550
T
T
G
T
C
T
C
C
T
T
T
C
T
G
A
C
T
G
T
C
C
C
T
G
C
C
A
A
T
G
C
T
C
C
A
G
C
T
G
T
C
G
T
C
T
G
A
C
T
C
8600
T
G
G
G
T
T
C
G
T
T
G
G
G
G
A
C
A
T
G
A
G
A
T
T
T
T
A
T
T
T
T
T
T
G
T
G
A
G
T
G
A
G
A
C
T
G
A
G
G
G
8650
A
T
C
G
T
A
G
A
T
T
T
T
T
A
C
A
A
T
C
T
G
T
A
T
C
T
T
T
G
A
C
A
A
T
T
C
T
G
G
G
T
G
C
G
A
G
T
G
T
G
8700
A
G
A
G
T
G
T
G
A
G
C
A
G
G
G
C
T
T
G
C
T
C
C
T
G
C
C
A
A
C
C
A
C
A
A
T
T
C
A
A
T
G
A
A
T
C
C
C
C
G
8750
A
C
C
C
C
C
C
T
A
C
C
C
C
A
T
G
C
T
G
T
A
C
T
T
G
T
G
G
T
T
C
T
C
T
T
T
T
T
G
T
A
T
T
T
T
G
C
A
T
C
8800
T
G
A
C
C
C
C
G
G
G
G
G
G
C
T
G
G
G
A
C
A
G
A
T
T
G
G
C
A
A
T
G
G
G
C
C
G
T
C
C
C
C
T
C
T
C
C
C
C
T
8850 |
var(8829):[G:0.46]
T
G
G
T
T
C
T
G
C
A
C
T
G
T
T
G
C
C
A
A
T
A
A
A
A
A
G
C
T
C
T
T
A
A
A
A
A
C
G
C
ATTCGCCAGG
8900
CTACAGTGTT TATTTCCTCC TAACACCCAT TGCCTGGCTT CCTTTTAGTA
8950
AGAGAGGATG AGGTTAGATT GTCGAAGGAC TACACACACA CAGAGATCAT
9000
ACACCCATGC ACACACACAC ACAGACACAC ACCTATGCAG G
A
A
C
T
C
C
T
T
C
9050 |
NOT SCANNED
T
A
G
T
C
A
A
T
G
G
G
T
C
T
A
C
A
G
C
A
G
G
A
T
A
A
A
A
G
G
A
A
G
G
C
A
G
A
C
A
G
T
C
A
G
G
A
G
G
A
9100
C
T
T
C
C
T
G
T
A
C
T
C
G
C
A
G
G
C
A
G
T
G
C
C
T
C
C
T
A
C
T
A
G
A
A
A
A
A
G
T
A
A
G
T
G
G
C
T
A
C
9150
A
G
C
T
G
G
G
C
G
C
A
G
T
G
G
C
T
T
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
G
A
G
G
C
C
A
A
9200 |
REPEAT
G
A
T
G
G
G
C
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
T
G
C
C
A
A
G
A
T
9250
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
T
G
G
T
G
T
G
G
T
G
G
9300
T
G
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
G
C
T
A
C
T
T
G
A
G
A
G
G
T
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
9350
T
T
T
A
A
C
T
T
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
C
A
C
A
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
9400
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
A
G
T
G
A
A
A
C
T
G
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GTAAG
9450
GGGTCAGAAG GTTAGCCTGC AGGTGTGGGA TCACAGAGGT
C
TCCTAGTGA
9500 |
var(9491):[G:0.30]
TGGAGCTTGT ATGCTCTATG GGTTAAAAAC AGAC
G
C
T
A
A
G
G
A
G
A
T
A
A
A
C
T
9550 |
NOT SCANNED
A
T
A
C
A
C
A
G
A
A
G
A
A
G
C
T
T
A
A
T
G
G
G
C
T
G
T
G
C
A
C
A
G
T
G
G
C
T
T
G
C
A
C
T
T
G
C
A
A
T
9600 |
REPEAT
C
C
C
A
G
C
T
C
T
T
T
C
G
G
A
G
G
C
C
G
A
G
G
T
A
G
G
A
G
G
C
T
A
G
G
A
G
T
T
C
G
A
G
A
A
C
A
G
C
C
9650
T
G
G
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
A
C
C
C
C
C
C
A
C
C
C
C
A
A
C
C
C
A
T
C
T
C
A
T
T
A
T
G
T
T
G
9700
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
G
G
A
T
C
T
T
G
A
G
A
A
A
C
T
T
G
C
A
C
A
G
C
A
A
A
C
T
A
C
T
A
9750
A
A
G
A
C
C
A
C
T
C
A
G
G
C
T
A
G
G
A
A
T
G
A
G
G
C
G
T
C
A
T
C
T
T
G
G
A
T
T
T
T
T
T
A
C
A
A
A
C
T
9800
A
C
A
A
C
T
A
C
A
A
A
A
A
A
C
A
A
T
T
A
T
T
T
T
A
C
A
C
T
G
A
A
G
A
T
G
T
G
T
T
T
C
C
T
T
T
T
G
T
T
9850
T
T
C
C
A
T
A
T
G
A
C
C
A
C
T
A
T
T
G
G
G
G
C
C
A
A
C
C
C
A
A
G
A
C
T
G
A
C
T
G
A
A
G
C
A
A
A
T
A
T
9900
A
T
G
A
C
C
A
T
T
T
T
T
T
T
T
T
T
T
T
A
C
A
C
A
T
A
G
A
G
T
G
G
A
G
C
C
A
T
C
C
C
C
A
T
T
G
C
A
A
A
9950
A
T
C
C
T
A
G
C
C
G
T
C
T
C
T
T
A
T
T
T
G
C
A
T
A
A
C
A
G
C
A
A
G
T
C
C
T
C
T
G
G
G
A
A
T
T
G
A
G
G
10000
T
G
A
G
G
G
T
C
C
A
G
G
G
G
T
C
G
C
T
C
A
G
A
C
G
C
T
T
T
G
G
T
A
A
A
T
C
A
A
T
A
A
G
C
A
A
G
G
G
A
10050
A
T
T
T
G
T
C
A
T
G
G
T
G
G
A
A
T
C
C
A
T
T
T
A
T
T
A
A
T
T
C
A
C
T
C
A
A
A
A
A
A
A
T
G
T
G
C
T
A
A
10100 |
REPEAT
G
C
A
C
C
T
A
C
C
C
A
A
C
T
G
T
G
C
T
G
G
G
A
G
T
T
G
G
G
G
A
C
A
C
T
A
T
A
G
G
G
A
C
T
G
A
G
C
C
T
10150
C
A
G
G
T
C
T
T
G
C
C
C
T
C
C
T
G
G
G
G
C
T
C
A
C
A
G
T
C
C
A
T
T
G
G
G
G
G
A
C
A
C
A
C
A
C
C
G
T
T
10200
G
C
C
A
G
T
C
A
G
G
G
A
C
A
A
C
C
T
A
A
A
G
T
G
G
A
T
T
G
G
G
T
T
T
G
G
G
A
A
G
C
C
C
A
T
G
G
G
G
C
10250
T
A
G
G
G
A
A
G
C
A
C
A
G
C
A
G
G
G
A
C
A
C
C
T
A
G
C
T
T
G
G
A
C
T
G
G
G
A
G
T
C
G
G
G
A
A
A
A
A
C
10300
T
T
C
C
T
G
G
C
G
G
A
G
G
G
G
A
C
A
G
C
T
G
A
G
C
T
G
A
G
T
C
C
T
A
G
A
G
G
A
G
G
A
T
A
G
A
G
A
G
T
10350 |
var(10343):[C:0.02]
A
T
A
G
A
A
A
G
A
A
A
T
A
G
A
A
A
A
A
G
G
C
C
A
A
G
G
C
C
A
A
G
A
A
A
A
T
A
G
C
A
C
A
G
C
C
A
T
A
G
10400 |
var(10398):[A:0.19]
A
T
C
T
G
T
T
G
G
T
G
G
G
G
A
G
A
A
G
G
C
T
T
G
A
T
A
C
A
T
T
G
A
G
A
A
C
G
CT TAGAG
G
G
T
C
G
10450 |
var(10410):[C:0.03]
|
var(10438):[A:0.13]
|
REPEAT
G
G
T
G
C
G
A
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
G
10500
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
C
A
T
T
C
A
A
G
A
C
C
A
G
T
C
T
G
G
C
C
A
A
C
G
T
G
G
C
G
A
10550
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
10600 |
var(10572):[A:0.31]
|
var(10586):[:0.49]
A
G
G
C
A
T
G
G
T
G
G
T
G
G
G
C
A
C
C
T
G
T
G
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
A
10650
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
A
A
A
G
T
G
G
A
C
A
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
T
10700
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
C
A
G
C
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
10750
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
A
A
A
A
A
A
GAGAAAAC TCAGAGATTC GTGGAGACTG
10800 |
var(10756):[G:0.18]
GAACCACGGG TGTGGAGAGA GGGGTTAGTA GAGACCAGAT TCTGCAGGTA
10850
CTATAATGAC ATTCCCAGGC TAAGGAGTTT AGATCTTT