IL13RA2 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
TACGAAATCT TAAAGGACAG ATCGATAGGG GAGAGAGAAT TTTGTTAGAA
50
TCTCTCTGAG AGCATTGTAA GGGCAGCCTG ATTGCCCTTA GTCCTTAAAG
100
GTAATATGGA AGGTTTTCTC TTTGTCAGAC CTATTGCCCT GATCCCAGTA
150
GTAACCAGTG TGTTCATCTT AATCTCTGAG GGTAGCTCTG TGGAAGATCC
200
ATAACCTTCT GTTAGCCAAA TCTACCTAGT ACTTACAGAT GCATTAGTGG
250
GCAGCCATTG GCTGGCAAGT A
A
AGAGAGAG GAATTGGGGA GAAAGAGAGA
300 |
var(272):[G:0.18]
TTTGTTGGGC CTCAGTGAGA GAAATGACAT TCTCTCCTGA TTTTATGAGG
350
CGCAGAATTT TTAAAATAAC ATGGTGTTGA TTCAGCTTGG TTTGCTAATT
400
AAAGGAAGAT TTAAACACTG GGGTTCCAGA GGAAAAGCGT TCATAATCCT
450
GAGTCATGCC TGTGGGAC
C
C
A
G
C
A
G
A
A
T
G
G
G
G
T
G
G
A
A
G
T
G
C
A
C
A
G
G
A
C
T
G
500 |
REPEAT
|
var(481):[A:0.08]
G
G
C
A
T
C
A
T
G
A
G
A
T
C
T
C
T
G
T
T
C
T
A
C
T
T
C
C
A
G
C
T
T
T
G
T
T
A
C
T
A
A
T
T
T
G
C
T
G
T
550
G
T
A
A
T
C
T
T
G
G
G
T
G
G
G
G
C
A
A
G
T
C
T
G
A
G
T
T
T
T
A
C
T
G
C
C
C
A
A
T
T
T
A
T
A
A
A
A
G
A
600
G
A
A
T
T
T
G
A
C
T
A
G
C
C
T
T
G
T
C
T
G
T
A
A
T
A
T
A
C
A
T
A
C
T
G
G
T
T
C
T
A
A
A
A
A
T
T
T
G
A
650
T
C
C
T
A
A
G
A
T
T
C
TATAAAGTA GCCATTGAGG CTTACCAA
A
G TTACAATATT
700 |
var(689):[C:0.01]
ACAGATGGAT CAGGTAGGGG GAAGAGGGTG GGGTGGAAGA GAGGGTCTGT
750
CCTATTGAAT TAATCTATGC ACAAGAAAAG AAGGGCAGTC CCTTCTTTTC
800
TTTTGAGTGA CTTTTAATCC TTTACTTTAT GTGAAATTGT TGGTTCCAGA
850
ATATAGATTC GAAGAGAAGT GTATGGAATT GGGAGTAGTA GTTTTTCCTG
900
AAAAGCAAAG TATTTTTAAT TGAGTAGCTA TTTGAAGGCA TGAATCCTTT
950
AAATTTTGAT CATATCCGTC AAGAACCAAT ATCCAAGAAC AGAAAGATGA
1000
CTAAATTGTA TTCTATGGCA ATGAAATGCT GTTTTAG
T
T
T
A
A
G
A
A
A
G
A
G
A
1050 |
REPEAT
T
G
A
A
A
A
G
T
T
C
A
G
A
T
T
T
G
C
C
C
T
T
T
A
G
A
A
A
G
G
T
C
A
C
T
C
T
T
G
C
T
G
T
A
T
A
T
G
G
T
1100
G
T
G
G
A
A
A
A
T
G
G
A
T
C
A
G
A
G
G
C
A
G
G
A
A
A
G
A
C
T
G
A
A
T
A
A
G
G
A
G
A
T
C
C
C
T
G
C
T
A
1150
A
G
A
TCCTCCA TTTAGGAAGT GGTAGTGGTA ATGGAGAGAT TAGATGG
G
A
G
1200 |
REPEAT
A
G
G
A
G
T
T
G
A
G
G
A
A
G
A
C
T
C
C
C
A
G
G
T
T
T
C
T
G
G
T
T
T
G
G
G
C
A
A
C
T
G
G
A
A
G
G
A
T
G
1250
G
C
G
A
T
G
C
C
A
T
T
T
A
C
T
A
A
T
A
A
A
G
G
A
A
A
C
A
C
A GGAAAAAGTG GAACAATAAT
1300
GAGAGTAGAT GGAAA
T
A
A
A
A
A
A
T
T
T
T
A
A
T
T
A
A
A
A
G
A
A
G
T
A
A
T
T
A
A
A
A
G
A
A
1350 |
NOT SCANNED
A
A
A
A
G
G
A
G
C
A
A
A
G
A
A
G
A
A
A
G
T
C
A
A
T
C
G
T
C
C
A
G
C
A
G
G
G
G
G
C
G
A
A
A
G
A
G
C
T
A
1400
A
A
T
A
A
A
C
A
C
T
T
T
T
T
T
T
A
AAC TAAAAAAA
G
A AATATTTATG AGGAAACAGA
1450 |
var(1429):[T:0.11]
GCAAAGTTTT GAACTCTCTG AGGCTTCGGT TTAGGTTCTG AGCTTTCTCA
1500
GTGGTCAAAT AACT
T
T
C
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
1550 |
REPEAT
A
G
A
G
A
C
A
G
T
C
T
C
G
C
T
C
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
T
G
G
G
A
T
C
T
T
1600
G
G
C
T
C
A
C
T
G
C
A
A
T
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
G
G
1650
C
C
T
T
C
C
G
A
A
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
C
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
1700
G
T
G
C
A
T
T
T
T
T
A
G
T
A
G
A
G
A
A
A
G
G
A
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
T
C
T
C
A
1750
A
A
C
T
C
C
T
G
A
C
T
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
G
A
A
A
G
T
G
C
T
G
G
G
1800
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
G
G
C
C
G AAATAACTTT CAAATACTTT
1850
TTTCTTTTTC TTTTTTCTTT TTTTCCCCTC AGAAAAGAGT ATTTGACTGT
1900
GTTTTATGTG TTGCTAGGGG A
G
ACGGTTGC TATGGAGATG GATGATATCA
1950 |
var(1922):[T:0.04]
TAACTCCATT GTGAACCA
G
T
A
A
G
A
A
C
A
C
T
C
T
C
G
T
G
A
G
T
C
T
A
A
C
G
G
T
C
T
T
C
2000 | Exon 1 |
UTR
C
G
G
A
T
G
A
A
G
G
C
T
A
T
T
T
G
A
A
G
T
C
G
C
C
A
T
A
A
C
C
T
G
G
T
C
A
G
A
A
G
T
G
T
G
C
C
T
G
T
2050
C
G
G
C
G
G
G
G
A
G
GTGAGGAGCT ACAAGGGTTT TTGCTTAGCT TTGTTTTTAT
2100
TCTTGTAAGC AGGATGAGAC TAGAATCCTT TCTTTCCAAT TATATTGGTT
2150
CCTAACTTGA TTATTTCTGT TTCCATGGTC TGAGGTGGAC ACAGTTTTCC
2200
CAGTTCTTGG TAGAGAAGCA CACAGAGAGC TTTCCAAAGT ATTTTTAATC
2250
ACGTTTAGTT TGATTATTTG ATGTAAGATA AAGTTAAAAT GTTATATTTT
2300
TCCTTCATAG
A
G
A
G
G
C
A
A
T
A
T
C
A
A
G
G
T
T
T
T
A
A
A
T
C
T
C
G
G
A
G
A
A
A
T
G
G
C
T
T
2350 | Exon 2 |
UTR
M A 2
T
C
G
T
T
T
G
C
T
T
G
G
C
T
A
T
C
G
G
A
T
G
C
T
T
A
T
A
T
A
C
C
T
T
T
C
T
G
A
T
A
A
G
C
A
C
A
A
C
A
2400
F V C L A I G C L Y T F L I S T T 19
T
T
T
G
G
C
T
G
T
A
C
T
T
C
A
T
C
T
T
C
A
G
A
C
A
C
C
G
A
G
A
T
A
A
A
A
G
GTA AATGGATTTT
2450
F G C T S S S D T E I K 31
AATGGAATAG TTTTTAAATT AGGAAAAGTA AAATTAAATG GATTTTAATG
2500
GAAAATTAAC TGTCTTTTTG ACCTGCCTTA TGGAAGTGCA TAACTAACTA
2550
GTAGATGAAT TGTTATTGAA ACTATTTCAG GAAGTTCATG AA
A
AAAAGCT
2600 |
var(2593):[C:0.29]
ATGTTCTTAC TAGTCACTTT CTTGTATAAG GTAACTGATG TTGACACACA
2650
TTTTGTGCGA TAAATGCCAA ATTAAAAACA CTCTCCATAC CTTTTTGTAT
2700
AGTCTTTTTT AACAGATTAA GTATCTGAAA CCTCATTGCC TGGTACTAAA
2750
CTAACTGGAA CAGTTCCTTA ATTACTATCC TTAGCTACTA TCCTTAGCTT
2800
TTATGACAAT TAGATAC
A
T
T
A
A
A
A
A
G
G
T
A
C
A
G
A
A
A
T
T
T
A
A
C
G
T
A
A
A
A
T
T
T
2850 |
NOT SCANNED
A
A
A
A
A
T
A
A
T
T
A
G
A
A
T
T
A
T
T
T
A
A
T
T
T
T
T
C
A
A
T
T
A
T
A
T
T
A
T
A
T
T
A
T
T
T
A
A
T
A
2900
T
A
A
T
G
T
T
A
A
T
G
T
T
T
T
A
T
T
A
T
T
A
A
T
T
A
A
T
T
A
A
A
A
T
T
A
T
T
T
A
T
A
G
T
A
T
A
T
T
A
2950
T
T
A
T
A
T
T
A
T
A
T
A
T
T
A
T
A
T
T
A
T
A
A
T
T
A
A
T
A
T
A
A
T
T
A
A
A
T
A
C
A
T
A
T
A
T
T
T
A
T
3000
A
T
T
A
TAGTGA TATGTTAGTT ATTATTTGTT ATTATTTGTT GTTCTTATTT
3050
GTTATTGTTA TTGTTAGACA GATTTTTGTA ATAAAATGTT CCCATCTTAG
3100
ACCAAATTCT GGCGTACATG A
G
CACAGAGA TAAAGCCACA T
T
GAATTTTT
3150 |
var(3122):[C:0.14]
|
var(3142):[C:0.01]
TGCTTCTCTA AAAATTAATA CCTAGTGAGG CAAAGTCACA TTTTGCATAT
3200
GTGATTTCTC AAAGAAGGAA CAACTATATA GCAGTAATCT AGATTTTTTT
3250
AACAGCCTTA CTGAGATATA ATTTACACAA AACTAACTCT TTATACAAAA
3300
CTATATTCTT TAAAACTATA CATGTATAGT AAAACTCTTT ACTATACGT
T
3350 |
REPEAT
G
G
T
T
T
T
T
A
G
T
A
T
A
T
T
C
A
C
A
A
A
G
T
T
G
T
G
C
A
A
C
A
A
T
C
A
C
C
A
C
T
A
T
C
A
A
A
G
T
C
3400
C
A
G
A
A
T
A
G
T
T
G
C
A
T
C
A
C
C
C
G
T
A
A
A
A
C
A
G
C
C
C
C
T
A
A
A
C
C
C
A
T
T
A
A
G
C
A
G
T
C
3450 |
var(3419):[T:0.05]
A
C
C
C
T
T
G
C
A
T
T
G
T
T
T
C
T
C
C
C
T
C
C
A
G
C
C
C
C
T
A
C
C
A
A
C
C
A
C
G
A
A
T
C
T
A
C
T
T
T
3500 |
var(3456):[:0.92]
C
T
C
T
C
T
C
T
A
T
G
A
A
T
T
T
G
T
C
T
A
T
T
T
T
G
A
A
A
T
T
T
C
A
T
A
G
A
A
A
T
G
G
A
A
C
T
A
T
G
3550
T
C
A
A
T
A
T
G
T
G
G
T
C
T
T
T
T
G
T
G
T
C
T
G
G
C
T
T
C
T
T
T
C
A
G
T
T
A
G
T
A
T
A
A
T
G
T
T
C
T
3600
C
A
A
G
G
T
T
C
A
T
C
C
A
T
G
T
T
G
T
A
G
C
A
T
G
A
A
T
C
A
G
T
A
C
T
T
C
A
T
G
T
C
T
T
T
T
T
A
T
G
3650
G
C
T
G
A
A
T
A
A
T
A
T
T
T
G
A
T
T
G
T
A
T
G
C
A
T
G
T
A
G
C
A
C
A
T
T
T
T
G
T
T
T
A
T
C
T
G
T
T
A
3700
A
T
C
A
A
T
T
G
G
T
G
C
A
C
A
T
T
T
G
G
AAGCCATCTA GATTTAGCAA TATTTGTCAT
3750
AAAATACAGA AAAAATAAAA GTGTTTTATT GATTTATTTC AG
T
T
A
A
C
C
C
T
3800 | Exon 3
V N P 34
C
C
T
C
A
G
G
A
T
T
T
T
G
A
G
A
T
A
G
T
G
G
A
T
C
C
C
G
G
A
T
A
C
T
T
A
G
G
T
T
A
T
C
T
C
T
A
T
T
T
3850
P Q D F E I V D P G Y L G Y L Y L 51
G
C
A
A
T
G
G
C
A
A
C
C
C
C
C
A
C
T
G
T
C
T
C
T
G
G
A
T
C
A
T
T
T
T
A
A
G
G
A
A
T
G
C
A
C
A
G
T
G
G
3900
Q W Q P P L S L D H F K E C T V 67
A
A
T
A
T
G
A
A
C
T
A
A
A
A
T
A
C
C
G
A
A
A
C
A
T
T
G
G
T
A
G
T
G
A
A
A
C
A
T
G
G
A
A
G
GTAAGT
3950
E Y E L K Y R N I G S E T W K 82
AAAGCATGCA TTTGCCGTAT CAGAGTGATC ATCAGGTGTT ACTTT
G
TGAT
4000 |
var(3996):[T:0.02]
TCCTGACTTT AGTGTCCGCT CCAATTCCCA TATCTCAATA GTTCTAATTA
4050
GGATATAAAA AGCTTCCACA CCCGCTTCTG TCTCCTATGC ATCCTGCTAT
4100
ATCTGTTTTC ACCCCATCCA GTGTTAAGAT TGCCATTGGA AGAACAAG
A
A
4150 |
var(4149):[C:0.08]
AAAAAA
C
AAA AACAAAAACA AAAAACTCGG TCTCGTGCAA TATGAACTTG
4200 |
var(4157):[A:0.05]
AAGAGCAGCA CTTCACTA
G
A AGAGCATTTC ACTGTATTTT ACAATTGCTT
4250 |
var(4219):[A:0.01]
ATATTCTTGG ATGTGGGCCT TATACATGCT ACTGACCT
G
T GACCTTTTCT
4300 |
var(4289):[A:0.13]
ACTGTAGGAG ACAAGGCTTA TTTATCTTTG TACCCTTCCC ACAGAGGGTC
4350
GC
A
GGATTAT GGTTCGTTGT ATATATTGTA GTAAGAGCTC AATGAAAATG
4400 |
var(4353):[C:0.04]
TTTTGAATTA TTAACTACTT ATATACTCAA CAAGCATGTA TATTCAAAGA
4450
TTTCTGTTGT AGATGACATT CTGTTACCTC TCTAATTCAG CTAGGTAGTT
4500
TCAAGAGACA
A
T
T
C
A
A
A
T
T
G
A
G
C
A
T
T
T
A
T
T
G
A
T
C
A
A
C
T
T
T
G
T
G
C
T
G
G
G
C
A
4550 |
REPEAT
C
T
C
T
A
C
T
A
G
G
T
A
T
C
A
G
G
A
A
T
A
T
A
T
G
A
A
T
A
A
A
T
A
A
T
A
A
A
T
G
A
T
T
T
T
T
G
T
C
C
4600
T
C
C
A
G
A
A
G
C
T
C
A
TGATTTGT CTGTATTT
T
T CTGGTTACTT CCAGGGTTTT
4650 |
var(4629):[C:0.19]
AGTTTATGTA TTTCTTGAAG GTTTCATATT ATATTTTGAA ATGTGGCATG
4700
ATTTGCCAAG TAATGTGCCT ATGGTATATG AAAATTATCT ATTTGATTCC
4750
AAG
C
AGATAT AGCTC
A
A
GTT TCTGCCATAA AGTTTTTTTT CCCTTCCAAA
4800 |
var(4754):[A:0.19]
|
var(4766):[:0.09]
AGTTTTTGTT TTTATTTGGA ATTAGATGTT AAGATTCAAA TGATCTCATA
4850
AAATGATATG ACATACAGAG GTGAGCTCTG CTGGAAATGT ATCTGTGGCA
4900
TTGTATCAAA TAGTCTCTAG GATTGTCTTA GATATTGGGA ACTCTCCAGG
4950
GTATTAATGA TTTATTAGTC TTATTAATAT AGCTCACTAT ACCATGGAGG
5000
TTTCTAAGCT TGACTTTGTC TCATCTTTTT GTCAAACAG
A
C
C
A
T
C
A
T
T
A
C
5050 | Exon 4
T I I T 86
T
A
A
G
A
A
T
C
T
A
C
A
T
T
A
C
A
A
A
G
A
T
G
G
G
T
T
T
G
A
T
C
T
T
A
A
C
A
A
G
G
G
C
A
T
T
G
A
A
G
5100
K N L H Y K D G F D L N K G I E 102
C
G
A
A
G
A
T
A
C
A
C
A
C
G
C
T
T
T
T
A
C
C
A
T
G
G
C
A
A
T
G
C
A
C
A
A
A
T
G
G
A
T
C
A
G
A
A
G
T
T
5150 |
var(5124):[C:0.02]
A K I H T L L P W Q C T N G S E V 119
C
A
A
A
G
T
T
C
C
T
G
G
G
C
A
G
A
A
A
C
T
A
C
T
T
A
T
T
G
G
A
T
A
T
C
A
C
C
A
C
A
A
G
GTTAAAA
5200
Q S S W A E T T Y W I S P Q 133
CAAAGCTCTC TTTTCATATT TAATACTATC AGAACAATTC ATTTGGGAAT
5250
AAGTCCCTTA ATCTTATGTA CCAGGCTGTA GGCACAATAG ATCCTGTGAC
5300
AGTGTGGCAC AAAATAGAAT CTTTCTTGTA GTTGGTGATT AGCCTTTTAA
5350
AATTCTTTAA ATCAGCAAAT ACCTTTGGCA AAACCTGTAT ATTATTTTAT
5400
TGATTTAGTT CCCAGTTTTG GGGTCATATT AGTAAACATT CATGAGTATT
5450
TGCTCATCTG CTCAGAGCAT CCTAGAATAA TCAATTTACT ACTTTTGCAT
5500
ATGCTTATAC TAATATGAGT AAATGAGCCC TCAAATGTTT TTTGGTTTTG
5550
CATGTCCCTC TTATCGTGAA GTGATTCCCA GTAACTTCCT TTTGAAATAA
5600
TCCTGTTATG TTGATTGCAA AATAAAATGG AGAGGTCATA GGAAATGAAG
5650
TAAAATTGAG AAATGATTTC ACAAATGATT CATCACCAAG CCTTTCAAAC
5700
ATTCACA
G
TT GATTTGTTCC TTAG
G
A
A
T
T
C
C
A
G
A
A
A
C
T
A
A
A
G
T
T
C
A
G
G
A
T
5750 |
var(5708):[A:0.18]
| Exon 5
G I P E T K V Q D 142
A
T
G
G
A
T
T
G
C
G
T
A
T
A
T
T
A
C
A
A
T
T
G
G
C
A
A
T
A
T
T
T
A
C
T
C
T
G
T
T
C
T
T
G
G
A
A
A
C
C
5800
M D C V Y Y N W Q Y L L C S W K P 159
T
G
G
C
A
T
A
G
G
T
G
T
A
C
T
T
C
T
T
G
A
T
A
C
C
A
A
T
T
A
C
A
A
C
T
T
G
T
T
T
T
A
C
T
G
GTAAG
5850
G I G V L L D T N Y N L F Y W 174
TATTTTTATA ATTAGAATTC CATATTAAAA AATGTCTACT CAAGTTAGTC
5900
G
ATAGTATGA GTAAACTATA TTTTCACTAA GTTAAATTCA TTATACTTGT
5950 |
var(5901):[A:0.02]
CAGAGTTGTA TTTATGATGA TAATTGTTTA CAATTATTTG AGGTTTTCAA
6000
TGGGTGTAAG TGGTTTTAGG ATGTAGATAC TGGAAGGTAT TCTATGGGTG
6050
ATATAAGGAA TGCAATAATT GTTTCTGTAC TGGGTTAATT TTGTATCCTT
6100
TAGATAGATG AATTTAGAAC TTAAACAATT TTGACATATT TTATATTCTT
6150
GTTTTTT
T
AA AAAATCAGTT ATCTATTAAA CTGAATTTTT TTCTGACTCC
6200 |
var(6158):[A:0.23]
CTCCTTTGTT AACTGTCACT GAAGCTTTTA AACTTGGACA TTGTGACTC
G
6250 |
var(6250):[A:0.22]
T
GTATCTTCT TAATTTCTTA ATTGTTTTAG GGTAACATGA TCACCATGTT
6300 |
var(6251):[G:0.01]
CTGATGCTCC TTTGCAAGGT TGCACATCTG TTAAGTA
C
C
T
A
C
C
A
T
C
T
C
T
A
6350 |
REPEAT
C
T
G
T
A
A
G
A
G
C
T
C
T
A
C
T
T
T
A
G
G
C
T
T
C
C
C
T
C
A
T
T
C
C
A
C
A
C
C
T
G
G
A
T
G
A
T
T
G
C
6400
C
A
T
T
G
C
T
T
C
C
A
A
A
A
T
G
A
C
G
G
T
C
G
C
T
C
T
G
C
T
C
C
C
A
A
T
C
T
C
T
C
C
C
C
T
T
C
C
A
A
6450 |
var(6411):[C:0.42]
T
C
T
C
T
C
C
C
C
T
T
T
T
T
A
T
T
C
A
T
T
C
T
G
C
A
C
A
C
T
G
T
A
G
C
C
A
G
C
T
T
T
A
T
C
T
T
C
C
T
6500
A
T
A
T
T
G
C
C
A
T
T
T
T
C
A
T
A
T
A
C
C
A
C
T
C
T
C
T
T
G
T
T
C
A
A
A
A
A
C
C
T
C
C
T
G
T
G
T
C
T
6550
A
C
T
C
A
T
T
G
C
C
C
C
A
G
G
A
T
A
A
A
A
T
C
T
A
GGCTG CCATACTGTC TACTATTACC
6600
AATGTGAATG CTCCACTCAA TTTAGATCCA TCTCTACATT TTTTTCTCAC
6650
CCGTGTTATT GCCTTTTATA CCTTTGTTTG CATTACCTTC TGGAAT
G
CCC
6700 |
var(6697):[C:0.10]
TCTGGCTCTA TCTTTCTTTC ACCAATTTTT ATCCATCTTT TTCAAGGCTC
6750
ATCTGCTCCC CAGTTTCATT AACCTTTAAC TGATCATGTC AGCTTCTGTT
6800
TTGTTTTTCT TGAGCTATTA CTTTGTTTTT TTTTTTGTTT GTTTGTTTGA
6850
GACAA
G
A
G
T
C
T
C
C
C
T
C
T
G
T
C
A
C
A
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
C
A
T
C
T
C
6900 |
REPEAT
|
var(6866):[A:0.18]
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
6950 |
var(6936):[G:0.01]
C
C
T
C
C
C
G
A
G
C
A
G
C
T
G
G
G
A
T
T
A
T
G
G
G
C
G
T
G
T
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
C
T
7000
T
T
T
G
C
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
A
A
T
G
T
T
G
C
C
C
A
T
G
C
T
G
G
T
C
T
7050
C
A
A
G
C
T
C
C
T
T
A
C
C
T
C
A
A
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
G
A
A
A
G
C
G
C
T
G
7100
A
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
G
C
C
T
G
G
C
C
TTGAACTA
T
TTTTTTTTAT
7150 |
var(7140):[:0.18]
AGCCTGTAAT TGTTTATTGT CCAGATGGCA TTTAAATTTT TTCTCATATA
7200
TGTGTGCTTT GTCTCCTGTT AAATTTTTAA GGGATTGGTG GGCATGAATT
7250
GTTTATTATA TTTCTCTTGC CTACCTCCAA AGTACTATAC CCGTAGTAGA
7300
TTA
G
CACTAA ATATTTATTA CATAGCTGAA ACAAGTGATA GCACTGATAA
7350 |
var(7304):[C:0.21]
ACTGATAGGT AATTATCCAA ACATATGCAT TTACTAAATA ATGGAAAAAT
7400
CAAGAGAGGA CTAAGCATTA CTATTGGTGA GTTCTAGTTC CAAATTATCA
7450
TGGCATCTTT CTTTAGAAAA TAATAATAGA TAAAT
C
ATAA GCTATAAACT
7500 |
var(7486):[G:0.25]
ATTAACAATC CT
G
A
G
A
T
C
T
G
G
G
T
T
C
T
A
A
T
C
C
C
T
G
C
T
C
T
A
G
C
A
T
C
A
T
T
T
A
A
7550 |
REPEAT
C
T
T
G
G
C
G
G
C
C
T
T
G
G
G
C
A
A
G
T
A
A
T
T
T
T
T
T
C
T
T
T
T
A
G
A
A
T
T
T
T
T
G
T
T
T
C
C
T
C
7600
A
T
C
T
G
G
A
A
T
T
G
G
A
T
A
G
G
T
A
A
A
T
T
T
C
A
A
A
G
A
T
C
TAAATTAT TTG
T
T
C
A
T
T
A
7650 |
REPEAT
A
T
T
C
A
A
C
A
A
A
T
A
T
T
A
A
G
C
A
T
C
T
T
T
T
A
A
A
T
G
C
C
A
G
G
C
A
G
T
G
T
T
C
T
A
G
A
T
A
A
7700
A
A
A
G
G
A
C
A
A
A
A
G
C
A
T
G
A
A
T
A
A
G
A
G
A
A
A
G
T
C
T
C
T
G
C
C
C
T
C
C
T
G
T
A
C
A
T
T
G
T
7750
G
G
T
TCATATT TGATATAATT TGATCCTCAT CTT
G
GTGAAA TAGGGAGGAA
7800 |
var(7784):[T:0.21]
TAAACATTAA CATTTTAGAG ATTGGAAAAT AAAGCCTTCC CTGCTGACAT
7850
CAAGTAAGTC TGTATGGAGT TAAGCCTGGA ACTGAAGTCT CCCAAACTCT
7900
AATCAAGTGA ACTAACCAAG AGACAACAAT TTTGCAAACT CTCCCTAAAG
7950
TAAATAGTTG GCATAAGGTT AATTTAGTAG AGTCCAGATA TGTGTACAGG
8000
CACCTTATCA GCTGCTACAT TGGCCTCTTT TCAACAGGGA TTTGACTGCT
8050
TTTACAGATA ATGTCATGGT TTGCATTGCA AGCTATTCTT TAGGAAAATA
8100
GCAA
G
CATTT GTTGCTTTCG AATTTAGTAG GGAATCACTC
C
TAGTTCCTT
8150 |
var(8105):[A:0.02]
|
var(8141):[T:0.06]
TTAGCTTTAT TACTGGAATA AGGTTAACTT AAAATGATAT GGTAACATTT
8200
CTCATTTAAT AGATGAGAAA ATTAAATATT TACTTGCCAA ACAACTCCTT
8250
CTTTTTCCTT TTGCCCTCCT ACAGTTGGCT TTTCTGAGGT TTATCTCTTG
8300
ATGTGTATTG TATACTCCAG ATTTTCATTC ATTTTATTAA ACATAATATT
8350
TTCTAAGTCT GCTTTAAAAT TTGCTTTCTT TTAAAATAAC TTCCCCAGTA
8400
AAATAACTTA AAAGGCAATA TCATGCAGGA TTATTTGTAC AAATCACAGG
8450
TTTTCTTACT AGGAATCTTA TTCTTTGATT CACAAACCTT GTTGATGAAT
8500
CAATATAACC TAAGTACACA AGTAAGAATC CTTGTCTTTG AG
A
TTTTGCG
8550 |
var(8543):[G:0.05]
AGGA
C
T
C
C
C
A
A
C
A
A
A
T
T
G
T
A
A
G
C
T
C
C
A
T
G
A
A
A
T
C
G
G
G
G
A
C
T
A
T
G
T
C
T
G
C
T
8600 |
REPEAT
T
T
C
C
C
T
A
C
T
G
T
T
T
T
T
T
C
C
C
T
A
T
T
G
C
T
T
A
T
C
A
T
A
G
T
G
C
C
T
G
A
C
A
T
A
T
A
G
T
A
8650 |
var(8612):[A:0.15]
|
var(8616):[:0.18]
G
G
T
G
C
T
T
A
A
T
A
A
A
T
A
T
T
G
T
A
C
A
T
T
A
T
T
A
A
A
T
G
A
TTTTTAA ACTGACATGG
8700 |
var(8670):[G:0.01]
TATCCTAATA TAATTGAAAA TGAAG
T
GCCT TGATACTGGA A
A
AGATTGTT
8750 |
var(8726):[C:0.32]
|
var(8742):[G:0.26]
ATTTAAACAC AATTCTCACA ACACTCATTT TACAG
G
T
A
T
G
A
G
G
G
C
T
T
G
G
A
8800 | Exon 6
Y E G L D 179
T
C
A
T
G
C
A
T
T
A
C
A
G
T
G
T
G
T
T
G
A
T
T
A
C
A
T
C
A
A
G
G
C
T
G
A
T
G
G
A
C
A
A
A
A
T
A
T
A
G
8850
H A L Q C V D Y I K A D G Q N I 195
G
A
T
G
C
A
G
A
T
T
T
C
C
C
T
A
T
T
T
G
G
A
G
G
C
A
T
C
A
G
A
C
T
A
T
A
A
A
G
A
T
T
T
C
T
A
T
A
T
T
8900
G C R F P Y L E A S D Y K D F Y I 212
T
G
T
G
T
T
A
A
T
G
G
A
T
C
A
T
C
A
G
A
G
A
A
C
A
A
G
C
C
T
A
T
C
A
G
A
T
C
C
A
G
T
T
A
T
T
T
C
A
C
8950
C V N G S S E N K P I R S S Y F T 229
T
T
T
T
C
A
G
C
T
T
C
A
A
A
A
T
A
T
A
G
GTGATGTAAA CCAACAAACA ACTTCAAATT
9000
F Q L Q N I 235
CATTGTTTCT AGTTTAGGCC ATTTACAACC ACTTGAGAGG GTGAGAGAGA
9050
GAAAAAGGG
G
AGGAAGGAGA GAGAGACATA GACAGAGAGA GAGACAGAGA
9100 |
var(9060):[A:0.25]
CCTATGGAAA TGCAAAGACA GAAAAATGAG AG
T
CAGCAGA GTGTATGAGG
9150 |
var(9133):[C:0.02]
TGG
C
GCTTAT TAAATATTTA AGGATGAAAG ATAAGAAATT
T
AAT
A
AAGGT
9200 |
var(9154):[T:0.02]
|
var(9191):[G:0.25]
|
var(9195):[G:0.10]
TAAAGTATCA TTTTCATTTA GAACTCACAA TTTTATTTTC CATCTTCAGT
9250
TTGTCTGCTA TACAGTACTT TTGTCTAGTG TTAGTGATGG ATTAATTATG
9300
AAG
A
TACTTC TTCCCAGGCC TCAATAGACA AATGGCTGGA
T
ATTTATTGA
9350 |
var(9304):[T:0.04]
|
var(9341):[A:0.08]
GTCTATATTT TCAGTTC
T
A
A
T
G
G
T
T
A
T
G
A
G
A
G
T
G
A
T
G
G
G
T
T
C
T
A
G
A
G
T
C
T
9400 |
REPEAT
G
C
C
A
G
A
C
C
T
G
G
G
T
T
T
A
A
A
T
C
T
T
A
G
A
T
C
T
A
C
C
A
T
T
T
T
T
C
T
A
G
T
C
G
T
G
T
G
A
C
9450 |
var(9407):[T:0.25]
T
T
T
G
G
G
C
A
A
G
T
T
A
C
T
C
T
G
T
T
T
C
A
A
T
T
T
C
C
T
T
A
G
T
A
G
T
A
A
C
A
T
G
A
G
G
A
T
A
A
9500
C
A
G
A
G
G
A
C
C
A
C
C
T
G
A
T
A
G
G
T
T
T
A
T
T
G
T
G
A
G
G
C
G
T
G
A
A
T
G
A
G
A
T
T
A
T
T
A
T
G
9550 |
var(9501):[T:0.25]
T
A
A
C
A
T
C
C
T
T
G
G
T
A
C
T
T
A
C
A
G
T
G
T
C
T
G
A
A
A
T
A
G
C
A
T
A
A
G
C
A
C
T
A
A
A
T
A
G
G
9600 |
var(9555):[T:0.03]
G
T
T
A
T
C
T
A
T
T
TGTAAAAGTA GTAGTATT
G
T TGATTGTGGT TGTTATTTCT
9650 |
var(9629):[A:0.25]
AATGCTACAA AATGGAAAAT TGTTGTAATG ATTTGGGTCT TCGAACTTTT
9700
CTCTTGGATT TATATATTTG TCAGTGGGTG ACTTGTCAAA AATGAGTTTC
9750
CAAAATAACC AAGTTTGTTA ATAAACTCAT CTTGGTTGGC AAGCAACTTT
9800
GATTTTAATA C
G
TATCATAG GGAATATTAC TGAGCCACTT GGTTTATCCC
9850 |
var(9812):[A:0.25]
TGGAGGTTTC TGTTACCAGA TGTCCCTAGC TTTGGATAAA GGCTACTGCT
9900
AAACTTCAAC AATCTCC
G
TG TTGAAATGGT TCTCTTTTGC TTTTCAG
T
T
A
9950 |
var(9918):[A:0.02]
| Exon 7
V 236
A
A
C
C
T
T
T
G
C
C
G
C
C
A
G
T
C
T
A
T
C
T
T
A
C
T
T
T
T
A
C
T
C
G
G
G
A
G
A
G
T
T
C
A
T
G
T
G
A
A
10000
K P L P P V Y L T F T R E S S C E 253
A
T
T
A
A
G
C
T
G
A
A
A
T
G
G
A
G
C
A
T
A
C
C
T
T
T
G
G
G
A
C
C
T
A
T
T
C
C
A
G
C
A
A
G
G
T
G
T
T
T
10050
I K L K W S I P L G P I P A R C F 270
T
G
A
T
T
A
T
G
A
A
A
T
T
G
A
G
A
T
C
A
G
A
G
A
A
G
A
T
G
A
T
A
C
T
A
C
C
T
T
G
G
T
G
GTATGAA
10100
D Y E I E I R E D D T T L V 284
TATTGCATTT ATTTGGGAAA ATCATAACTA CAGCCTTTTA AATAAAATAG
10150
CAAATGTGAG AACCAAAATC AGTTGCATCC ACGTGAGGGA CAGAACATGA
10200
CATATATCTT AGTTCAATTT CCAGAAAGC
C
AAATAAGCTA ATGGACAAAA
10250 |
var(10230):[T:0.11]
GTATAATGAA TGATACC
A
A
T
T
T
T
A
A
A
G
T
T
A
C
A
T
A
G
G
A
C
C
T
T
A
G
A
G
A
T
T
A
T
10300 |
REPEAT
C
T
A
G
T
C
ACTT GTTTTCAATT TTGTGTCAAT AAATTAAAGT TGGTGAAGGC
10350
TTAAGATGGA TTGTGGAGAG GCCTCAAGTA AAAGCAAAAC AAAATTAAAA
10400
AAAAAAACCC ACAAAGACCA CTTATTGAGG AACAACCATC AGGTCAAAAT
10450
TACAGTATGG CAGGCTTACA AGAGAATTGC TTGTACCAGG CAAGAAGGGC
10500
TGCCTGGGGA ATTAGGCAAT GGTTGCAAGA CTAATTACTG CCACCAGCAC
10550
CAACAATGTG GTGATGCCTT TAATCACACA TTGTTATATA TTATTTTTCC
10600
TTATTAGTTT CCAGTTTAGA GAGTGGTAGA GAGAAGTTAG TGAGTCAGTA
10650
GT
T
C
T
A
A
T
T
C
A
T
T
C
C
T
T
T
C
A
T
A
T
A
C
A
G
A
T
A
A
G
A
A
A
A
C
T
G
G
T
T
G
T
T
G
A
A
T
T
10700 |
REPEAT
G
A
T
G
T
A
T
A
G
A
T
C
C
C
A
G
G
T
A
T
G
T
A
A
A
T
T
C
A
C
T
T
A
C
A
A
T
C
A
A
A
T
T
A
T
G
C
A
G
C
10750
T
A
G
A
A
C
T
A
G
A
T
A
T
C
A
G
A
T
C
T
G
G
T
T
C
C
C
A
G
T
C
C
ACTTAAGT CTACACTACA
10800
TTATGTTGAT TCCTAAGATA AGTTATGCCA AAGGAAAAGC TATTATATTG
10850
AATGAGAAAA ATTCTTCAGC TCTTTGAAAT GCAAAATTGA AATAATTGCT
10900
TCAGTGATTT TTTTACTCTG AGATCACCCA GCCTTGAGAT AGTCTCATAA
10950
CTG
T
AGCAAT AGTTTCATAC CAAGCCATGA GCACTGTTAT ACAGGTTTTG
11000 |
var(10954):[C:0.01]
TTTCCTTATT CTTATTCCAA GCCCTGAGCA TTGTTATGTA GGTTTTCCTT
11050
ATTCTTATTA ACAATCAGAA TAAGGAAATA AGCATAAGGA AAAAAGAAAA
11100
AGCTATATAT TAATATGTGA ACTCTATAGT TTCCATAGTA ATAACATTCA
11150
CATGCTGGCT CTGTCTTTTG GTAACTGAGT GTATGTAGCA TCTTCCAGTT
11200
CATAGAATCT GGGAAATTTG ACACTAGTCC ACATACTGGG TGTTATAAAC
11250
ACCAAGGCTA CCTAGGAATT TTGCTGTCTC ACACATGCTG TCCTTCACTG
11300
TAAGTGATCC ATTATCACTG TAGAAATAAA ATATAGATAA AGAAGGGAAG
11350
AAACAATGAT TTTAAAACCC CCACTATACA GAGAGCTAAT TACTGCTGGG
11400
ATTATGCATC CAGTCTTTTG ATGCATAGAT TGCATAGATT TTATGTAATA
11450
AAACCCACTT TGAAAGGGAC AGATATGGAA TCTGTCTAGT TGCAACTAGA
11500
TCAAATAATG GCATCTGATT TTGTCCTTGG CTTTCAG
A
C
T
G
C
T
A
C
A
G
T
T
G
11550 | Exon 8
T A T V 288
A
A
A
A
T
G
A
A
A
C
A
T
A
C
A
C
C
T
T
G
A
A
A
A
C
A
A
C
A
A
A
T
G
A
A
A
C
C
C
G
A
C
A
A
T
T
A
T
G
C
11600
E N E T Y T L K T T N E T R Q L C 305
T
T
T
G
T
A
G
T
A
A
G
A
A
G
C
A
A
A
G
T
G
A
A
T
A
T
T
T
A
T
T
G
C
T
C
A
G
A
T
G
A
C
G
G
A
A
T
T
T
G
11650
F V V R S K V N I Y C S D D G I W 322
G
A
G
T
G
A
G
T
G
G
A
G
T
G
A
T
A
A
A
C
A
A
T
G
C
T
G
G
G
A
A
G
GTATGAGC TAAAAGGA
C
A
11700 |
var(11699):[G:0.18]
S E W S D K Q C W E 332
GTAACTAAAT AATGAGCTCT TTGCTAGCAA AATTAATTTT CTTTTGGTGT
11750
AT
T
TTGTAAT TACAGAAGTG AAGGACTTTC CCATATAGTC TATGAACAGA
11800 |
var(11753):[A:0.02]
GAGAATAAGT TAGGGAGCAC TTCAATTGAA TAAAGATTTA TTAAAAGTCT
11850
AATATTCATT CAGTTAGGAC TAGGAATATT GTTATACTTC TATTATCAAA
11900
ATTCTTGTTT TTCTGTCAAT ATAGATAATA TGCTC
A
TTCT TTTGAGAGAT
11950 |
var(11936):[G:0.05]
TGGCAGGAAC TTATTTTAAT CAATATTTTC ATATGCTTTC AGTATTCAAG
12000
AGAACAGAAA TCTTAAAGCA AGTATAGATC AGCATACATT TGTTTCTGGG
12050
TGTCTAATAC TATTCAAAAG GAATATTTTT CTAATTAAAA GGTCATGAAT
12100
AGTAAAATAC ATATTCATTC CATTCACTTC TAACACTGAT TTAAAGTGAT
12150
TTGTGATAAA GTCATTTAAA TTACATAGCA ATATAAACTA AAAAGCCTAA
12200
AGAATGAGGT AAAATGTGAT TGTGCTTCAC AATGTATTAG CTTTAAGAGT
12250
AGAAATTACT AATAAATGTT CAAAATTGAA GGAAATCAAC TCAGCATTGC
12300
TCTTTCAGGT ACATAGATAT AGATGCAGCT CTAAATAAAT ATACTGATGC
12350
TGATACAGAC AGATACTGCC ATATCTATCA ATCATTCATC TCCTTTCATG
12400
TTGTTCTACT ATAGTGGAAT CTCTATTATC TCCCTACGAA TA
C
AGTGGTA
12450 |
var(12443):[T:0.26]
TCATTGATCC CT
T
T
C
A
T
T
C
A
T
C
A
A
A
T
A
T
T
T
A
T
T
A
A
G
C
A
C
C
T
A
C
T
A
T
G
T
A
T
12500 |
REPEAT
|
var(12478):[G:0.10]
C
A
G
A
C
T
C
T
T
T
T
C
A
A
G
C
A
T
T
A
C
A
G
A
T
A
T
G
G
C
A
G
T
A
A
A
G
A
A
A
T
C
T
C
T
A
C
C
C
T
12550
C
A
G
T
G
A
A
C
T
T
A
C
A
T
T
T
T
A
T
T
T
C
C
A
A
T
T
G
G
G
T
A
G
A
G
A
T
A
G
G
C
A
A
T
A
A
A
C
G
A
12600 |
var(12562):[T:0.44]
G
A
A
G
C
C
T
A
A
T
A
G
A
T
T
A
T
A
T
A
A
T
C
A
C
T
A
A
G
G
A
T
T
A
T
G
G
A
G
A
A
A
A
A
ATAGCA
12650
AGACAGTGGA AAACTCAACC AAGAGCTATA TGGAATCAGA AAGAAGACTT
12700
ACTAGTTTTA TGTTTTTCAT TTTTGTTACT GTTTTAAAAA ATCAGGAAAC
12750
TCTAAAGTTA TGTCCTGAAC TATATCTCGT CATTAGTCAA TGCATTGTAT
12800
AAAGTGGTTA TGGTGAGTTT TTAGCCATAT CCTCAAAAAA TATATTCTTT
12850
TCTGTATTTT ACATGCAATC TTATCAATGA TAGTGATGCC TAAGATTTCT
12900
CTTGCTTTGA GGGAAATC
T
T
T
T
C
C
T
T
T
T
T
T
T
G
G
T
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
A
12950 |
REPEAT
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
G
T
T
G
G
C
T
C
T
C
T
G
T
C
A
C
C
T
C
T
G
13000
C
C
T
C
T
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
G
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
13050
T
T
A
C
G
G
G
C
A
T
G
C
A
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
C
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
13100 |
var(13076):[A:0.12]
A
C
A
G
A
G
T
T
T
C
A
C
C
G
T
G
T
C
G
G
C
T
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
13150
T
G
A
T
C
C
G
T
C
C
A
C
C
T
C
G
G
T
C
T
C
A
C
A
A
A
G
T
G
T
T
G
A
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
13200 |
var(13173):[G:0.05]
A
C
T
G
T
G
C
C
C
A
G
C
C
CTCTTCA TAGAATCTTA ATGACTTTGA AATTAGAAAC
13250
AAGGAATTTC TTGAGTTGCA TGTGGTCTCA GTTCTTTAGG ACATTTCTTA
13300
TTGGATGTTT CAAGTTATAG AAAAATAGGA CAATAATATT TTTGGAAATA
13350
AAAGTATGTC CTCTTCAGGA TTGACTCTGT ATGGGGAAAG CCAGTAGAAC
13400
TTCAGCAAAG GAGCTTCCTG CCTTCCCACT GTTAATTTTG CATGACAGAT
13450
AACTTACATC AGTAATTTCT CTGGATTATA TTCTTGTAAA TCTTCTCTGA
13500
ACACGTGAAT TTGACTGATA ATTTTCTAAT AGAAAACAAG ATCGTGAGGA
13550
AATAGGACAA AGAAAAAGGT GGGATCAAGA GAGCTTTGTA GATGCGTGGC
13600
TAAGATTCAA GATCTTTTAT ATTACTCCAA AACAAGTGAG AGGTACTAGT
13650
TTAGGGAGAC CAAACTTCGT CTGCTTTTTA AGTTTGCCTA GTGATTGCTC
13700
ATTTCTTGCT ATGCAGAAGA ACCATTAAAA CTCCATCCCT AAACTAACAA
13750
AGCAAAATCA AAAAGAAAAG AAAAACCTTA TCCCTCCCTT TGGTCTTTAA
13800
AATATGAGAC AACTTTAAAA AGGTAACCTT AAAAGATGAT TTCCATTACT
13850
CACACAGGAA TTTTTATTGA AGGATACCTC TTGCTTGGTA CAGTATCCTA
13900
TGATCTAAGT ACACGTTTGA CTTACTGAGA GTTAAGAGAC AGACACACAG
13950
GACATGTTTG TTTAATCACT TGGCTAATAT TTTGTCATTT TTAAATGGAG
14000
AATTCACAAG GTCAAATATA AACAAACTCA TATCAGGAAA TAAGAATTGT
14050
GTTTGGGGAA GTTATTTTTC TAAGTGAAAA TAAGACATGT CACAGTTCAG
14100
TAAAGTACTT TTCTATATAA AAATTGCACA AATGAAAGGA ACGCTATACT
14150
C
AAACACAAT TGTGGTATTT ATGCACTGGC AAATATGACA GGGGTTTCCA
14200 |
var(14151):[T:0.07]
AGCTCAACTC AGTTCTGAAG TATTTATAAA ATAATTCAGT TTCAAAAATA
14250
GTGGCAAATG TCTAACACTT CCCCTTTCC
G
TGTGATTTTT AATCCTAG
G
T
14300 |
var(14280):[A:0.10]
| Exon 9
G 333
G
A
A
G
A
C
C
T
A
T
C
G
A
A
G
A
A
A
A
C
T
T
T
G
C
T
A
C
G
T
T
T
C
T
G
G
C
T
A
C
C
A
T
T
T
G
G
T
T
T
14350
E D L S K K T L L R F W L P F G F 350
C
A
T
C
T
T
A
A
T
A
T
T
A
G
T
T
A
T
A
T
T
T
G
T
A
A
C
C
G
G
T
C
T
G
C
T
T
T
T
G
C
G
T
A
A
G
C
C
A
A
14400
I L I L V I F V T G L L L R K P 366
A
C
A
C
C
T
A
C
C
C
A
A
A
A
A
T
G
GTA AGATGTGTAA CATTATGATG TTTAGCCTGA
14450
N T Y P K M 372
GA
A
TAGGAGA TTTTTAAAAT GTTCTGCACT TAGAACTGAT GGAGATACAT
14500 |
var(14453):[:0.23]
TTTATAATTT TGCTTGTTCG CTGTGGGTGT ACAATTGATT CCGTATGGAT
14550
TATGA
T
GTTA TCTTCAGAAA ATACAGCAAT TTTTAAAAAT TAAGCTTACA
14600 |
var(14556):[C:0.10]
AGACTTCATT TTGAGGTGGA TTTACTTTTG TCGAAATCAA ACTTTAAACA
14650
TGAAATACTA TTTGGCCCTA GATTAGAGAA TGGTATACGG AAAGAGTTAC
14700
AAGAGAAAAG CAGGATTGGG AGAAATAGAA GAGTGAATTA AAATGATCAT
14750
AGACTGAAAC ACATATTAC
C
A
G
T
G
T
G
C
C
A
C
A
G
G
C
A
C
A
A
G
A
A
C
A
C
A
T
G
C
A
A
14800 |
REPEAT
A
T
G
A
T
A
A
A
G
C
A
T
G
G
T
G
C
C
T
G
C
C
T
T
T
G
G
A
G
C
A
C
A
C
A
C
T
C
A
A
G
T
T
A
A
G
G
G
A
G
14850
A
C
A
G
G
A
T
C
C
A
T
A
C
A
A
A
A
A
A
A
T
A
T
A
A
C
C
TTT GAGATGATTT TAGATGATTG
14900
CCATTTGAGT CGTGCAGATA ATGCTATAGA ATTTCAGAAA ACAATAGGAC
14950
CACTCTGGGT TGGGGGGCTT TAAGGA
G
GAG TTGTAACCTG GAGAAAAATA
15000 |
var(14977):[A:0.07]
TC
T
T
T
T
T
G
G
G
A
C
A
G
G
G
T
C
T
C
A
T
T
C
T
G
T
C
A
C
T
C
A
G
G
C
T
G
G
A
G
A
G
G
A
G
T
G
G
T
15050 |
REPEAT
G
C
A
A
T
C
A
T
G
G
T
T
C
A
C
T
G
C
A
G
C
C
T
T
G
G
T
A
T
C
T
A
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
C
C
15100
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
G
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
G
G
C
A
C
C
A
A
C
A
T
A
G
C
G
15150
G
G
A
C
T
C
C
A
T
C
T
C
T
A
T
A
A
A
A
A
A
T
T
T
A
A
A
C
A
T
T
A
G
C
C
A
G
A
C
A
C
A
A
T
G
G
C
T
A
A
15200
T
G
T
T
T
A
G
A
T
T
T
T
T
T
A
T
A
G
A
G
A
T
G
G
A
G
T
C
C
C
G
C
T
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
15250
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
T
C
C
T
C
C
C
A
C
T
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
15300
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
A
G
C
A
A
C
T
G
T
G
C
C
C
A
G
C
TGAGAAA AGATATCTCA
15350
ATGCCATATC TTTTCAAGAT AGAGAGAAAA GTGAATGTGT ATAGAATGCT
15400
TC
A
CTTTGTT TGCTGAATGC TCTTGTGCTT ATTCTCTGAG TTGTTAATCT
15450 |
var(15403):[C:0.10]
TCAGTGAAAT AGTTTGTGTT ATTAGAGATG ACTTGTTAAT AACAGAGTTC
15500
TTTCTAG
A
T
T
C
C
A
G
A
A
T
T
T
T
T
C
T
G
T
G
A
T
A
C
A
T
G
A
A
G
A
C
T
T
T
C
C
A
T
A
T
C
A
A
15550 | Exon 10 |
UTR
I P E F F C D T 380
G
A
G
A
C
A
T
G
G
T
A
T
T
G
A
C
T
C
A
A
C
A
G
T
T
T
C
C
A
G
T
C
A
T
G
G
C
C
A
A
A
T
G
T
T
C
A
A
T
A
15600
T
G
A
G
T
C
T
C
A
A
T
A
A
A
C
T
G
A
A
T
T
T
T
T
C
T
T
G
C
G
A
A
T
G
T
T
G
A
A
T ACGTCTTATT
15650
TTTAAATATT GTTGTATTTA AATAGGCTTT TGAGTACTCA AAGCCTCAGC
15700
TAGTAGTACA TTTTCTGGAT TCTATTAACA GTTTCTTTTC TCATAAATTC
15750
ATAGTGAGAG TGCTGCACGT AGTTCTCCAA TCAAGGTATG AGTCAGGTTT
15800
TATATTTATG ATGTATTAAT AAAACAATGT GACTTCACAG ATTGCACTAA
15850
GCCACAGA
G
A
TATTGTCAGA TCTTGGAAAA TGAGATTCTA GTTTTTGTTG
15900 |
var(15859):[:0.08]
TTGTTTGTTT TAAACTGCAC TTGGGATGAA AGTATACAGT ATGAATAAAA
15950
CTGTTTGGCT TTA
G
G
C
T
G
G
G
C
G
C
A
G
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
16000 |
REPEAT
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
16050
G
C
C
T
G
G
C
T
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
T
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
16100 |
var(16076):[G:0.02]
|
var(16099):[C:0.07]
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
G
C
G
T
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
A
C
A
G
A
A
G
G
C
T
G
A
G
16150 |
var(16115):[T:0.01]
|
var(16140):[G:0.46]
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
C
G
A
G
A
T
16200
C
A
T
G
C
C
A
T
T
G
C
A
T
T
C
C
A
G
C
T
T
A
G
G
C
A
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
T
G
T
C
T
C
A
A
A
16250 |
var(16234):[G:0.16]
A
A
A
A
A
A
A
A
A
A
TCGTTTTGCT TTAAAAGTAA CCTGTGAAAA GTATTAGGAA
16300
GCAAGAATTT TAAATACATT CATAGTCCTA AGTATATTCT TTGCATTTCA
16350
TGAAGAAAAA TGTGTGAAGA ATGCAGTGCT TAAA
A
AGCTA AAAGTAGTAA
16400 |
var(16385):[C:0.21]
GATGATTAGG AATCATATTT GAAAAAATTG GAAGTCACAA ACTACACAGT
16450
AAAACTTGAG AGTTTCCCTA TACTTTCTGA TGGTGTGTGT TTTTGGTTCA
16500
CGGACCAAAA GGTACAAAC
A
TCTGAAATTA GTAAGAAGCT TTCTAAAAGG
16550 |
var(16520):[C:0.46]
ACAATCAACC TTCAGGGTAT GTCACAACCT AGGTGTCGAT AATTCCTTTA
16600
AAACTTAGGG AATAATGGAC TCCAATCAGG ATTGTAGATT ACAATCAAGA
16650
GCCAAGCTTC CGTTTGGACT AGTTTCTATT CAATACTATT CATAGTAGAG
16700
TGGC
C
A
T
C
A
C
C
T
G
G
G
A
G
C
T
T
A
T
T
A
G
A
A
C
T
G
C
T
C
C
A
A
C
C
C
C
G
A
C
C
T
A
C
T
C
A
16750 |
REPEAT
G
T
T
A
G
C
A
A
T
T
T
G
C
A
T
T
T
T
A
A
G
A
A
C
A
T
T
C
C
C
A
G
A
T
G
A
T
T
C
A
T
T
T
G
C
A
C
T
T
T
16800
C
A
A
T
T
T
G
A
A
A
A
A
C
A
CTGATT TATAGCAGTA TTTTAGAATA AAAAATGCTA
16850 |
var(16812):[:0.09]
AAATAATATA ATGCAGAG
G
A GGTAAGCTCC TGGGAAGGGT AGCCACAGCT
16900 |
var(16869):[A:0.03]
GTGCTCATCA TTGCCACTGA TCATCTCTAA AAGATGAAAA AAGCTAAAAC
16950
TGAAGTGTAA ACCACAATAC CATCCTTTAC TATCACTTGT AATCAATGGT
17000
AGGATGTACT GCCATTTCCC TAAGTAGACT TGTCCTTGTT AAACATTAAA
17050
ACTCCTGTGA TAGTGTAAAT TAAGATGCAA TGTGATTGGC AATTGCTGTC
17100
AAACTAGATC TTGCTAAAGT TGTTCTTAGT GAGTTGAAGG GTGTAGGGAA
17150
GGACGGAGGA ATGTGATGTG GAGAGGTCAA GGT
G
AGGTAG AGATATGGTA
17200 |
var(17184):[A:0.17]
GGCAACCTCA TCCTGGGAGG CTGCATGCAT CTTGGCAA
C
C TACTCTTCCA
17250 |
var(17239):[A:0.23]
ATTCCCTTGT TTAGTGCATG
C
ACAACAAGC CCTACTAATT AAAGGAATTC
17300 |
var(17271):[T:0.14]
TGGCCTCTCT ACCATAAACC TAGAAGCCCC AATCAGAATT GCCCCAA
C
AA
17350 |
var(17348):[T:0.08]
AATGGAATCA AGTAGCACCA AATC
C
GGATA TAGTTGGGCC CTGCACAA
A
G
17400 |
var(17375):[T:0.25]
|
REPEAT
C
A
G
C
C
A
G
G
A
A
T
G
G
A
T
T
T
G
G
A
G
A
G
A
G
G
G
G
T
C
A
A
C
T
C
T
C
A
C
T
C
C
C
C
C
A
G
T
C
C
17450
A
C
T
G
T
T
T
T
G
G
A
C
A
C
A
A
C
A
G
A
G
G
T
T
C
T
C
T
G
A
A
C
T
G
G
G
C
G
C
C
A
G
T
G
C
A
T
A
T
G
17500
C
A
C
T
T
G
A
A
G
A
A
A
G
T
G
C
T
T
T
T
T
G
T
A
T
T
C
A
C
A
T
G
G
T
A
G
C
C
C
C
A
T
C
C
C
C
A
C
T
G
17550
A
A
A
A
G
G
A
G
C
C
C
A
A
A
C
A
A
C
T
T
G
G
G
C
T
T
G
C
A
T
G
A
A
G
G
A
T
G
G
G
G
C
C
C
A
A
C
T
C
A
17600
C
C
C
T
C
C
C
T
A
C
A
C
A
G
A
A
T
G