APOB 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
G
A
T
T
G
T
A
C
C
A
C
T
A
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
G
G
A
G
A
C
T
C
C
A
T
C
T
C
A
50 |
REPEAT
A
A
T
A
A
A
T
A
A
A
T
T
T
A
A
A
A
A
A
A
A
A
A
A
TATATA TATATATGTA TATATTCTCT
100 |
var(63):[-:0.97]
ATGGATGCTG ACCATTGGAC CCTGGTTTCA TCTGCACGTA ACAGAGTAAG
150
CTTGGACTTG TGCTTGTAAA TTAAAGCTCG ACACCTCCTT TTGGCTTCTC
200
TATACCTGAA TATTCTTACT CACTCTCCTT AATGTGAATA TGCATGGAAG
250
CAGGACCATT TCCTCAAACA CTAGCAGCAG CGAACCCTGT GGAAAGTCAG
300
TCCACATAGA ATAATTCAAA TAAAGTGTTC AGAGAAATGG GGTTTCAGAG
350
CAATTACTTT TTCCAGACCT TTCACAAATC AGTGGTGTAG GTATGACCAG
400
CCTTGAGTTG AGACCTCTGT AATATCCATC TTTAATAACA TTAATATGCT
450
GTGGATGAGC AACTGATCAC TGGAGGGAGT TTAGCTGCCC ATAGGAGTTC
500
ATGGCTAATG ACAATATCTG AATAAGGACA GGTGTGGAGC CCAGGTGCAG
550
GAAGCAGGCG AAGGTCTTTC TGTGAGTCTC CTCTGAGGGA ACTGGGTCTT
600
TATACATAGT TACTGTTTCA GAATTGATCC TTCTGGAATC ATCAGTCTTC
650
ACCAGTAGCT TGTTACATCT GGGG
G
TATCT CATAATTCAA ACAAAGCTGA
700 |
var(675):[T:0.10]
CAAGTTGTAA CAATGAGCAC ACACTGACTT CTGCAACAGG CGCTGTCCAC
750
TTCCCATCCG CACTCTACCG GCTTGCTCCT GGCCGCCTCC CACTCGCCTT
800
CCTGGGTGGT CCCCCAGCAG TTATACCTAC CTGGTTGTCG CCCCCTCTAT
850
CCTACCACAA TTGCTCACTA GCGGTTTCCT GCGTACACAG CTTGTCTCCC
900
TAACCAGAGT GGAGGTGCCT TGGGGACACA GCCAGGCTCA GACATTCACT
950
CAGCTCATCA TAGTGCCATC CCATCAATAA CCCCTTCTGA GTGATCCTGG
1000
GTTAGTAAAC CGAGTGTCCC TGAAATTCCA CTACCGCTGA TTCCCTACAG
1050
CTGGGCAGAG GCAGCGAGCG CTGGCTGAAG TTTCCGGTGG GAAATGGGCA
1100
GTGCCTAGAA G
A
GAAGGAAA CGATGCATGA GAAGGTTCCA GATGTCTATG
1150 |
var(1112):[G:0.31]
AGGAACATGA CGTGTCCTGT CCACTACTCT GCTTTTCCTC GTCCGCCTCC
1200
CCACCACTGG AGGAAACCTA GAAGCTGGTG CAGGAAATCC TCCTCTCAAC
1250
AACCCAAGAA CACTTTGCAC AAGAGGGGTG CGCCCTCGGA GGTTGCTCTT
1300
CCCCAGAGGC CTCTCCTCGC TGGGGTTTCT TGAAGACAGA TACTTGGACT
1350
CCTGCTGGGA CCAGGCAGGC CACCCATCCT CAGGGGCAGT GACTGGTCAC
1400
TCACCAGACC TCCCTGCATC CCCCTTCTCT CT
C
CTCCCCC AGCACGGGCT
1450 |
var(1433):[T:0.23]
GAACCCCGCA GCCACAGATT CTGATCAGGA TTAGGGTGTG GGTGCAAATC
1500
CAAGGTCCAC CAAAATGGAA AAGAAGTAAC CGATGGGAAC ACGTCTCCAC
1550
CAAGACAGCG CTCAGGACTG GTTCTCCTCG TGGCTCCCAA TTCAGTCCAG
1600
GAGAAGCAGA GATTTTGTCC CCATGGTGGG TCATCTGAAG AAGGCACCCC
1650
TGGTCAGGGC AGGCTTCTCA GACCCTGAGG CGC
C
GGCCAT GGCCCCACTG
1700 |
var(1684):[T:0.25]
AGACACAGGA AGGGCCGCGC CAGAGCACTG AAGACGCTTG GGGAAGGGAA
1750
CCCACCTGGG ACCCAGCCCC TGGTGGCTGC GGCTGCATCC CAGGTGGGC
C
1800 |
var(1800):[T:0.03]
CCCTCCCCGA GGCTCTTCAA GGCTCAAAGA GAAGCCAGTG TAGAAAAGCA
1850
AACAGGTCAG GCCCGGGAGG CGCCCTTTGG ACCTTTTGCA ATCCTGGCGC
1900
TCTTGCAGCC TGGGCTTCCT ATAAATGGGG TGCGGGCGCC GGCCGCGC
A
T
1950 | Exon 1 |
UTR
T
C
C
C
A
C
C
G
G
G
A
C
C
T
G
C
G
G
G
G
C
T
G
A
G
T
G
C
C
C
T
T
C
T
C
G
G
T
T
G
C
T
G
C
C
G
C
T
G
A
2000 |
var(1962):[G:0.02]
G
G
A
G
C
C
C
G
C
C
C
A
G
C
C
A
G
C
C
A
G
G
G
C
C
G
C
G
A
G
G
C
C
G
A
G
G
C
C
A
G
G
C
C
G
C
A
G
C
C
2050
C
A
G
G
A
G
C
C
G
C
C
C
C
A
C
C
G
C
A
G
C
T
G
G
C
G
A
T
G
G
A
C
C
C
G
C
C
G
A
G
G
C
C
C
G
C
G
C
T
G
2100
M D P P R P A L 8
C
T
G
G
C
G
C
T
G
C
T
G
G
C
G
C
T
G
C
C
T
G
C
G
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
G
C
G
G
G
C
G
C
2150 |
var(2111):[-:0.30]
L A L L A L P A L L L L L L A G A 25
C
A
G
G
G
C
C
G
GT GAGTGCGCGG CCGCTCTGCG GGCGCAGAGG GAGCGGGAGG
2200
R A 27
GAGCCGGCGG CACGAGGTTG GCCGGGGCAG CCTG
G
GCCTA GGCCAGAGGG
2250 |
var(2235):[C:0.02]
AGGGCAGCCA CAGGGTCCAG GGCGAGTGGG GGGATTGG
A
C CAGCTGGCGG
2300 |
var(2289):[G:0.01]
CCCCTGCAGG CTCAGGATGG GGGGCGCGGG ATGGAGGGGC TGAGGAGGGG
2350
GTCTCCGGAG CCTGCCTCCC TCCTGAAAGG TGAAACCTGT GCCGGTGGTC
2400
CCC
C
TGTCGG GCCCTAGCAC CCGCTGGGAA GACGTGGGAA GCTCACAGAT
2450 |
var(2404):[T:0.01]
TTCTTTCTCC TGTCTTACAG
A
A
G
A
G
G
A
A
A
T
G
C
T
G
G
A
A
A
A
T
G
T
C
A
G
C
C
T
G
G
2500 | Exon 2
E E E M L E N V S L 37
T
C
T
G
T
C
C
A
A
G TAAGGCATCT GCGCATGGGG CGTGGAAGGG CGCCCAGCCC
2550
V C P 40
CGTGCACTCT CCTACACCCG GGTCCCTGAG GGCCTCCCAC TCTACAGGGC
2600
TGAGATGGCA TCGTGGTGTG CCTTGCTCTG ACCCCAGGAA GCAAGTTCCC
2650
TGAGCCTCTG CCCACACCCA AGGGATGCCA ACTCTCTTCT ACCTGGCCTT
2700
CTGTTCTGTC CCAAAAGTTC AGCCTGGGG
G
CGGGGGAGGG AAGGGATTGT
2750 |
var(2730):[A:0.03]
CTCTCCGCTG GCCTGTGCAC ACTTTGAAGA AACATCACTG TCCTGTTTAT
2800
CAGTGACTAG TCATTGATTC GAAGCATGTG AGGGTGAGGA AATACTGACT
2850
TTAACCTTTG TGAAGAAATC GAACCTCCAC CCCCTTCCTA TTTACCTGAC
2900
CCCTGGGGGT TAAAGGAACT GGCCTCCAAG CGCGACCCTG TGTGCTGGAG
2950
CCGCGGGGCG GACTTCTGAT GGGGCAGCAC CGCCATCTAG TGGCC
G
TCTG
3000 |
var(2996):[A:0.01]
TCATCACTGC AGCTGGACTC AGGACCCAGA TGTTCTTTTT CTTCAATTGT
3050
TCAGAAAATT CCTCTCAACT ACAGTGGAAA CCTCCAGAAA TTCTTTTCTA
3100
GGAGTTTGTT AAGTTAGTTA CGCTTAATGC TTAATGAACT TTGCCTTAAG
3150
TATTTGGTAG TCTTAGAGTC ACGGAATTAC GGCGTGTTCA AGCTAAAA
A
A
3200 |
var(3199):[G:0.11]
GCATTAGAGA TAGTACTATT TGCGTAATGT TGTCATCTCT TAATTTGCCA
3250
GAGGGTCTCT CATGCAGATT TTCTGAGCCC CATTACTTGA CACTTGTCAC
3300
TCCCTTCCCT GTGCCTCAGA TGAGATATTC AAGACATGCC AGCCAATTTA
3350
AACATTAGCC TCAGCAAAAA CATAA
T
GGAG AAGTCAAATC TATAAAGGAA
3400 |
var(3376):[A:0.11]
AATTAAGTAT AAAGTCAATT AAAAAATAAT TTGAGTTGAA TTACCATTTT
3450
TAATTCTCTA TGCCACTGCC CCTCTCTGCC CAGAATTGGC TGTCCTTGGG
3500
AGAGCTATTT CTGCTATGTG GCTGACGTAT TTCTCCCCAC GTTAG
A
A
G
A
T
3550 | Exon 3
K D 42
G
C
G
A
C
C
C
G
A
T
T
C
A
A
G
C
A
C
C
T
C
C
G
G
A
A
G
T
A
C
A
C
A
T
A
C
A
A
C
T
A
T
G
A
G
G
C
T
G
A
3600 |
var(3553):[C:0.01]
A T R F K H L R K Y T Y N Y E A E 59
G
A
G
T
T
C
C
A
G
T
G
G
A
G
T
C
C
C
T
G
G
G
A
C
T
G
C
T
G
A
T
T
C
A
A
G
A
A
G
T
G
C
C
A
C
C
A
G
G
A
3650
S S S G V P G T A D S R S A T R 75
T
C
A
A
C
T
G
C
A
A
G
GTATGGAGG ATGCAGGCAG GAGGGACCTA GAGCCCACAG
3700
I N C K 79
CTTTCCCCCA GCCCTGTTCC AGCGGGCGCC CAACACGCGA CCTTCCCGGA
3750
GG
G
TGTGTAC TGAGCAAACG CAGAACATCC CAGAACTGTT GTAATCTGAT
3800 |
var(3753):[T:0.29]
CAAAGCACTG GGACTTTGCC TCTGTTTGTA AGTCAGCCAC ATTGCTGAGA
3850
TGTGGTCTGC CCCCACCAAA TTTCGCAAGT CAGAAGTATT TTCCCGTTAA
3900
CTTCCCAGAT GCAATAGGAA TCCATGATCT AGATTAGCAG CAGTGTGGGT
3950
CTGTAG
A
TTT CAGCGTGAGA GAGGCCCAGT AGGTGAGCTA TGGGAGGCAG
4000 |
var(3957):[C:0.05]
GCAACTCGGA ATCGCACTGT GAAATGCAGT TTTTATAATT TAAGTCAAAC
4050
AGAATCTGTT GCTGAAAAAT GAATGGAAAG AAGAAAAAAA TATAAACATA
4100
CAGTTTGTTC TAAAATAAAA CTTTGCTTAT TATTGAGACT GGTTGTACTC
4150
ATGTTACAT
A
CATGTGGAGC AGATCTACAG GCTGCTATTG GGGTTTGGGT
4200 |
var(4160):[G:0.04]
GGGGAAGAGA AGTCAAGCTG AGCAGTCACC TTTTTTTAGA GAGTACCGTA
4250
GCTCTTGTA
T
G
T
G
C
T
G
T
C
C
A
A
T
A
T
G
G
T
A
G
A
C
A
T
G
A
G
C
C
A
C
A
T
T
G
G
G
C
T
A
T
4300 |
REPEAT
T
T
A
A
A
T
G
G
A
A
T
G
A
A
A
T
T
A
A
A
A
A
T
T
C
A
T
A
T
T
C
G
T
T
G
T
C
A
C
A
T
T
A
G
C
T
G
C
A
T
4350
T
T
C
A
A
C
T
G
C
T
C
A
A
C
A
G
C
C
A
C
C
C
T
G
G
C
T
A
C
T
G
G
C
T
C
C
C
A
T
A
T
T
G
A
A
C
A
G
C
A
4400
C
A
C
A
T
G
T
A
C
A
A
C
A
T
T
T
C
T
A
T
A
A
A
G
T
T
A
T
T
T
G
A
A
T
A
G
T
G
C
T
G
GATAATAAG
4450 |
var(4441):[A:0.01]
TAGGAATCCG TTGAAACTCC AGCTATATGC AAAGCTCTAA ATAGGCCCTA
4500
ATAGATATAA CCAGTTTTTT GGGTGACATT AAGGAGACAT TTGCTGTGGA
4550
AACGAAGGAT GGCCCTCTTC CTGCTTTCTG TTTTTCTTCT TCACTTTCAC
4600
TCCTAGTCTG CAGCGCTTCT ATTTAACCAC AGCTCTTTAT AATTAAAGTG
4650
AGTAACTTTA GAACCAATAA AAGGACATCC TCCTTCCCAT GCCTAGGGGC
4700
AAACTTAAGA AATGTGTTAC CCGGGAGGGG GAAAACGTCA GCAATAGGAC
4750
TAAGTCTAGG TTGGTGCACA GAGAACCCAG GAGGCATGTT GATA
A
GGCAT
4800 |
var(4795):[G:0.01]
GTGGTGTTGA GGCGCAGGCA GTGGTGTTCC CAGCACCATT CCCTTTGGTG
4850
CTCTGATTAG AGATTAAGCC CTGGGCTTCA GGGGCCACCT CTCATTCTTG
4900
ATAGACAACC TCAATGCTCT GCTACCCTGA ATTCTCAG
G
T
T
G
A
G
C
T
G
G
A
G
4950 | Exon 4
V E L E 83
G
T
T
C
C
C
C
A
G
C
T
C
T
G
C
A
G
C
T
T
C
A
T
C
C
T
G
A
A
G
A
C
C
A
G
C
C
A
G
T
G
C
A
C
C
C
T
G
A
A
5000 |
var(4994):[T:0.24]
V P Q L C S F I L K T S Q C T L K 100
A
G
A
G
G
T
G
T
A
T
G
G
C
T
T
C
A
A
C
C
C
T
G
A
G
G
G
C
A
A
A
G
C
C
T
T
G
C
T
G
A
A
G
A
A
A
A
C
C
A
5050
E V Y G F N P E G K A L L K K T 116
A
G
A
A
C
T
C
T
G
A
G
G
A
G
T
T
T
G
C
T
G
C
A
G
C
C
A
T
G
T
C
C
A
G
GTAAGT CATGTTGTAC
5100
K N S E E F A A A M S R 128
ATGAGCACAC GCATGTGTGT GTGTCCGCTG AGGTATGAAC TTGTGTGTTT
5150
GCACCAGGCA CGGATGTGAC TGTAAGTATT TGTATTCCGT ATCCATCGTG
5200
GATCAGGGAA TTACTGAGTT TTCACAATCA TCAAAAAGAG AGAAGCATTA
5250
GTTA
C
CCTTC CCTAGTTAGG TTCCTTTAAT TATCATTTTC ATGTGTTTCT
5300 |
var(5255):[A:0.21]
AAAAATCTCA TGCTTTAAAC TTCTTGAGAT TATAAAACTG AGATGCTTTG
5350
TTTAAACAAG TGAATTCTTA TTTAAAGAAC TAGTCAAGAC TAGTGCTTGG
5400
TGGTCTTTGG TGTGGGGTCC CAGAGGCACT GGCTGCTGTG GCCGGCACAT
5450
GGCGGGGCAG GGTCTGTTCA CCGCAGGGCA GAGGAGCACC AAGGCTTCGG
5500
TGGCTCCCCC TCCTAGGCTG GCATTCAGCC ACTGCACGCT GATCGGCCAC
5550
TGCAGCTGCA TCTCTGCTGA CTGGTCAGGG CCCATGTCGC ACCCATTGTA
5600
AATATTTTCA ACATCACCCC TGCCTCATCC TCAATCACAG TTTGTAGGGT
5650
CCTAGGTGTG TATGAATACA GGCAGGATAG AGTTGTTAAC TTGGTAGCAT
5700
CAGAAAACTC TGTC
T
G
T
A
T
T
A
G
T
C
T
G
T
T
T
T
C
A
T
G
C
T
G
C
T
G
A
T
A
A
A
G
A
C
A
T
5750 |
REPEAT
A
C
C
T
G
A
G
A
C
T
G
G
G
C
A
A
T
T
T
A
C
A
A
A
A
G
A
A
A
G
G
T
T
T
A
T
T
G
G
A
C
T
C
A
C
A
G
T
T
C
5800
C
A
C
G
T
G
G
C
T
G
G
G
G
A
G
G
T
C
T
C
A
C
A
A
T
C
A
T
G
G
C
G
G
A
A
G
G
T
G
A
G
G
G
A
C
A
G
C
A
A
5850
G
T
C
A
C
A
T
C
T
T
A
T
G
T
A
G
A
T
G
G
T
G
G
C
T
G
G
C
A
A
A
G
A
G
A
G
C
T
T
G
T
G
C
A
G
A
G
A
A
A
5900
C
T
C
C
T
G
T
T
T
T
T
A
G
A
A
C
C
A
T
C
A
G
A
T
C
T
C
C
C
G
A
C
A
C
C
C
A
T
C
T
G
C
A
A
T
C
A
C
G
A
5950
G
A
A
C
A
G
C
A
C
G
G
G
A
A
A
G
A
C
C
T
G
C
C
C
C
C
A
T
G
A
T
T
C
A
A
T
C
A
C
C
T
C
C
C
C
C
C
G
G
G
6000 |
var(5977):[G:0.01]
|
var(5992):[A:0.01]
T
C
C
C
T
C
C
C
A
C
A
A
C
A
C
G
T
G
G
G
A
A
T
T
A
T
G
A
G
A
G
C
T
A
C
G
A
G
A
C
G
A
A
A
T
T
T
G
G
G
6050 |
var(6023):[A:0.02]
|
var(6035):[G:0.02]
T
G
G
G
G
A
C
G
C
A
G
A
G
C
C
A
A
A
C
C
A
T
A
T
C
A
CCAT CCTTGCCCAT TTTTCAGTTT
6100
TGCTAAACAT TAGATTCAGA TGCCAGTCCT TTCTTGC
C
AA AATAGGCTGT
6150 |
var(6138):[T:0.03]
GAGGCTTCTT TCTTTCCTAT GCTTTATTTT CTCCAAGACT TAACTGTATA
6200
TGAGGGAGAG GGGTATGGTG GCAGG
A
GGAA AGAGTGGTTT ATTTTTTGGT
6250 |
var(6226):[T:0.01]
CCTTGGTCTT CTCCAAATAC AGAAGAGACT CCTGTTCTTG AAAAGGAGGG
6300
CTTTCCATGT TTGCATCTTC ATGACTTTAA CTG
T
C
T
T
T
T
T
T
A
A
A
A
A
T
T
G
A
6350 |
REPEAT
C
A
T
A
C
A
A
T
A
A
T
T
A
T
A
C
A
T
A
T
T
T
A
T
T
G
A
G
A
A
C
A
T
A
G
T
G
A
T
A
T
T
T
T
G
A
T
A
C
A
6400 |
var(6355):[T:0.01]
T
G
T
A
A
T
G
T
A
T
G
G
T
G
A
T
C
A
G
A
T
C
A
G
A
G
T
A
A
T
T
A
G
C
A
T
A
C
C
C
A
T
C
A
T
C
T
C
A
A
6450
A
C
A
T
T
T
A
T
C
A
T
T
T
C
T
T
C
G
T
G
T
T
G
G
G
A
A
C
T
T
T
C
TGAGAGAG TGTAGGCTGT
6500 |
var(6467):[T:0.27]
GGGAGATAAG TCC
G
TCAC
C
T TTTCCTCCTG ATGTAACCAG AGTGGCTGCA
6550 |
var(6514):[A:0.01]
|
var(6519):[A:0.01]
G
CCAGGTCCT CAGAAACTCA GAGAGTAC
C
C AGTGGGAAAT CCCTAAGACC
6600 |
var(6551):[A:0.06]
|
var(6579):[A:0.01]
AAAGTCAGCA TGGGCTTCAG CCATGGCCT
G
A
C
A
C
C
A
T
A
C
A
A
A
A
G
A
A
T
G
A
C
6650 |
REPEAT
T
G
T
C
C
A
A
C
A
A
G
T
G
T
A
T
G
A
A
A
A
T
A
A
G
C
T
C
C
A
A
T
T
C
A
C
T
G
G
T
A
G
T
C
A
A
G
A
A
A
6700
T
G
C
G
A
A
T
T
A
A
T
G
T
A
A
C
A
A
C
A
A
G
A
T
A
T
T
T
A
T
C
T
G
C
T
T
T
T
A
C
C
C
A
T
C
A
T
A
C
T
6750 |
var(6703):[T:0.02]
|
var(6704):[A:0.03]
G
C
A
A
A
A
C
T
G
G
A
A
A
A
C
A
G
T
G
A
T
A
G
C
A
C
C
T
G
T
T
G
C
T
G
G
C
A
G
G
C
C
A
G
T
G
A
G
G
A
6800
A
A
A
G
T
G
T
G
C
T
G
T
C
C
T
G
A
G
C
T
G
C
T
G
G
T
G
G
A
A
A
C
G
A
G
A
G
C
C
A
T
C
A
G
G
C
A
A
T
A
6850
T
C
T
A
C
T
G
T
A
A
T
T
T
A
A
A
A
T
A
C
T
T
A
A
T
A
C
C
C
T
T
T
G
A
C
A
C
A
G
A
T
A
T
T
T
T
A
G
T
C
6900 |
var(6896):[G:0.03]
T
T
T
G
G
G
A
C
T
C
T
A
G
C
C
C
A
T
G
A
A
A
A
T
A
A
A
A
G
C
A
G
T
A
A
T
G
T
G
T
G
A
A
G
A
T
A
G
G
C
6950
A
C
A
T
A
A
G
G
A
T
G
T
T
T
G
T
T
T
T
G
G
T
A
T
T
G
T
T
T
G
T
G
T
G
G
T
T
T
A
A
A
A
A
A
A
A
T
C
C
A
7000
G
A
A
A
G
A
G
A
G
A
G
G
G
C
A
A
A
T
G
C
C
A
T
C
A
A
A
T
G
G
G
G
C
A
A
T
G
T
G
T
G
A
A
T
A
A
A
T
T
A
7050
T
A
T
T
T
A
G
C
C
A
T
G
G
A
A
T
G
G
A
A
T
G
T
T
C
T
G
C
A
T
G
C
A
G
C
T
T
T
T
A
A
A
A
A
A
A
T
C
T
G
7100
T
T
A
G
A
G
C
T
G
T
A
C
C
A
A
G
T
G
A
C
T
C
A
G
A
A
G
G
A
T
T
T
T
T
G
T
G
A
A
G
T
A
T
A
A
T
T
A
A
G
7150
T
G
A
G
A
A
A
A
A
C
A
A
G
A
T
A
A
A
A
G
T
A
T
G
C
A
T
A
A
T
A
C
A
A
T
G
C
C
A
C
T
T
G
T
A
T
A
A
A
A
7200
CAAACAATGG CAAAATCTTT GTATGACTCT GTTTGCACTC ACCCATGTTT
7250
ACAGAGGATT GTATGAGTGT GCAGAAACAA ATGGAACAAC CACTCGGGTG
7300
TCCGTATGGG GAGGATGGGC AAAGAGACTG ATATGGGTGG AGAACAGAGC
7350
AGGGCTGGAT GAGCCAAGCA AAAAAAGTTA AAACAC
G
G
C
T
G
G
A
C
C
T
G
G
T
G
7400 |
REPEAT
|
var(7387):[A:0.17]
G
C
T
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
A
G
G
G
A
G
A
A
T
C
A
C
7450
C
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
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
A
C
T
G
T
C
T
7500
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
G
A
T
G
G
C
A
C
A
T
G
C
C
A
G
T
A
G
T
C
7550 |
var(7518):[C:0.01]
C
T
A
G
C
T
A
C
T
C
C
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
T
C
C
C
A
G
G
A
G
G
T
G
7600
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
G
T
T
G
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
C
G
G
G
C
G
A
C
C
7650
G
A
G
C
G
A
G
A
C
T
C
C
A
T
T
T
C
A
A
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
A
A
A
G
A
A
A
A
A
A
A
GAAAA
7700 |
var(7651):[A:0.01]
AAAAAGAATC ACCAAAACTT ATGTATATGT GCATACTTTT TTGAAAATGT
7750
ATGTCTATGT
G
TAGCTATAT TCTATATTTA CAAATAAATG ATGTCAGAAG
7800 |
var(7761):[A:0.09]
AACAATTGGT TAAAAAAATA TGAGAAAAGA AACTTCAGTG CCACCCAGCT
7850
TACTTCCAGC AAGTTGTAAT GGAGAAGGAC ATTTCCGTGA CCATCCTCTC
7900
TCTGGGACAG
G
T
A
T
G
A
G
C
T
C
A
A
G
C
T
G
G
C
C
A
T
T
C
C
A
G
A
A
G
G
G
A
A
G
C
A
G
G
T
T
7950 | Exon 5
Y E L K L A I P E G K Q V 141
T
T
C
C
T
T
T
A
C
C
C
G
G
A
G
A
A
A
G
A
T
G
A
A
C
C
T
A
C
T
T
A
C
A
T
C
C
T
G
A
A
C
A
T
C
A
A
G
A
G
8000 |
var(7960):[T:0.09]
F L Y P E K D E P T Y I L N I K R 158
G
G
G
C
A
T
C
A
T
T
T
C
T
G
C
C
C
T
C
C
T
G
G
T
T
C
C
C
C
C
A
G
A
G
A
C
A
G
A
A
G
A
A
G
C
C
A
A
G
C
8050
G I I S A L L V P P E T E E A K 174
A
A
G
T
G
T
T
G
T
T
T
C
T
G
GTGAGG ATTTAGAAAG CTGATAGCAG TGGCCCTTGA
8100
Q V L F L 179
AACTCATCTT CATGTGTTAG AGACCAGTCC TACCATATAC AAAGCAGATC
8150
ACTGAGTCAG CTCCATGACT AGTTACATAG GAAGCCCTGG ATTGGCGTGA
8200
AATACTGGTG CCCGAGGTTC CTCCTGCCCC TTAGGCTCAC TGACAGATCA
8250
TCCCAAGCAG GCTTATCAGG TTGGGTCTAA TTTTAAAACA GT
T
ATTGAGG
8300 |
var(8293):[C:0.18]
AGTCCTGGCC ACCCCACCCC TGCTTTTGTT TGATGCTTCA CCTGTGTTTG
8350
CTGGGTTATG GTGTAACACA GTAAATCCTG TGTGTATTTT AAACACCAAA
8400
AATAATGGGA TCTGTTGCTG GTCTCTTTTA CGAATTTCAG GTTTCACTGT
8450
GAGACAGAAT TCATTTCACC TCAGTCCCAT GAGCACTTTT GTGTGTTCTA
8500
ATTTCTCTAC GACACCATAA TGGGAGAAGA CAC
C
GATGCA ACCTGCGGAG
8550 |
var(8534):[T:0.01]
GCCTTTCTGC AGACCCACCT TTAACTGGTT TTCTCTCTCC CAACTTGGGC
8600
TGGCCAGGCA CTAGCAAGAC CACACTCTGC ATAGGAAGAA AAAGAAAGTC
8650
CCTCCCAAAG CTAGATTCCT TCTGCTTTTT CTTTCACGAT
C
CCCACCCCA
8700 |
var(8691):[T:0.01]
TCCCTCCCAA GTACCCAAGG ATGTTGCCCG TGTTGAATAC ATGTGGTTGC
8750
ATCTTCTT
C
C TCCATAG
G
A
T
A
C
C
G
T
G
T
A
T
G
G
A
A
A
C
T
G
C
T
C
C
A
C
T
C
A
C
T
T
T
8800 |
var(8759):[T:0.05]
| Exon 6
D T V Y G N C S T H F 190
A
C
C
G
T
C
A
A
G
A
C
G
A
G
G
A
A
G
G
G
C
A
A
T
G
T
G
G
C
A
A
C
A
G
A
A
A
T
A
T
C
C
A
C
T
G
A
A
A
G
8850
T V K T R K G N V A T E I S T E R 207
A
G
A
C
C
T
G
G
G
G
C
A
G
T
G
T
G
A
T
C
G
C
T
T
C
A
A
G
C
C
C
A
T
C
C
G
C
A
C
A
G
G
C
A
T
C
A
G
C
C
8900
D L G Q C D R F K P I R T G I S 223
C
A
C
T
T
G
C
T
C
T
C
A
T
C
A
A
A
G
G
C
A
T
G
GTAAGTC CCATGTCAGC ACTGTCGTGC
8950
P L A L I K G M 231
ACAGCAAGGA GCATCCTCTT ATTAATACAA TTCCAGAACT TTTGAGCTAG
9000
TGGGCACCTT TGAGGACAGC CTGCCCTGGC TGTTTTTTAT ACAGACTAGA
9050
GATAGGACCC TGAGCAGGCA CGGGAAGGTC TGCCCAGGCT TCACGGCCTG
9100
GGATCAGTTG AGCCAAGGCT TGAGTCAGGC TCCTCCCTCC CAGCCCAGAG
9150
CTCTGTCTTT CCTCCTGTCC TTCTGTCACT GGCACCAAAC TGCCTCTAAT
9200
CTCATCACTT GAGAGTAATG ACTACTCACC TCTGAGAAGG TTCCGGGGAT
9250
GGATGTAGGG CAGCAAAACC ACCTTCTGTT CT
T
TTCTGCA CAAGGACTCC
9300 |
var(9283):[C:0.28]
TTGTGCCAGC TCCAAGCCTC TGGCCTTTGA AG
A
AGTCCCA AGACCTGTGT
9350 |
var(9333):[G:0.33]
TCTCCCCCTC TCCCTCATCC CATGAAGTGG AGTGACTTAG AGTGCTCCAG
9400
CTTCTTGTCC TTCCACCCCC AGTACCACCC TGACCAAACA TGGCCCCACT
9450
GCCACCGGCC TGGAGCACCC TCTCCTCTCT GTTAACTGGG GCCATGGAGC
9500
ACCATATTAC CTGAGCCTGC CTGACCCCTG CAACATCTTC CCTGATATGA
9550
GCCCCAGCCT GTCTC
A
GTGA ACATGAATAA CTTGGGCAAT CACTGTCATG
9600 |
var(9566):[G:0.02]
CTGGGCGCTG TTCCTGGTCA TTGTCCTTAG GGTTGAAAAC AGGGAGTCTG
9650
ATGACCATGA GTGCCACAGT CAGAAGAGGA TAATGCACTG GCTTAGGGGT
9700
CTTTTCTGAG CATCTGCTGT TTGCTCAACC CCACTCTGGG CAGCACCAAG
9750
GAAGGGACAG TGGCAGATGA ACCATGGACC TTCCCCTCAG GATGCTTCCA
9800
GTCTAATGCA GGAGCCAGGT CAATAAAGTA TACGTGGTAT ACTCAATAAG
9850
GTGATAAGCT GAACAGTGCA GACAAGAAGT CCTGGGCCTG ACCAGGAAGG
9900
AGAAAGAATT ATTCATGTAG CTCAGCGGGC AACATTTCAT GGAAGATGTG
9950
GAGCAGGAAC CCAAAAAATG CAAAGAATAT GTAAATGAAA GAGACATGTA
10000
AGAATGGGCT TTTGGGCAAA GAAAAGTTAC TGAGCAGGTG TGTGAGGGGC
10050
TATGTGGTGG GATGGGCATG TGGAGGATAC AAAGTTTAGA CATTGTCCAG
10100
TGAGGGTGGA AAAAGAGGAG TCTACAGCTT GACTCAGCTT TGGGGATGCC
10150
GACTTGTTGC ACCCCCTGGT CTAAATGTCA AGTACCCAGT TATCTTCTTT
10200
CTCTGAGTTT ATCTAGTGGT ACAGGACTCC TGCTCCCTTC TACCTTGAAG
10250
GTAAATGCTT TTAACAGAAG ATACAGGGAC TGATCAAAAT GCT
C
GTCTCC
10300 |
var(10294):[T:0.01]
AATCTCTTTC ATAG
A
C
C
C
G
C
C
C
C
T
T
G
T
C
A
A
C
T
C
T
G
A
T
C
A
G
C
A
G
C
A
G
C
C
A
G
10350 | Exon 7
T R P L S T L I S S S Q 243
T
C
C
T
G
T
C
A
G
T
A
C
A
C
A
C
T
G
G
A
C
G
C
T
A
A
G
A
G
G
A
A
G
C
A
T
G
T
G
G
C
A
G
A
A
G
C
C
A
T
10400
S C Q Y T L D A K R K H V A E A I 260
C
T
G
C
A
A
G
G
A
G
C
A
A
C
A
C
C
T
C
T
T
C
C
T
G
C
C
T
T
T
C
T
C
C