GABPA 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
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
50 |
REPEAT
G
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
C
C
G
G
T
C
T
C
T
A
C
T
G
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
A
100
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
C
G
G
A
G
G
C
T
G
A
G
G
C
A
G
150
A
A
G
G
G
C
G
T
A
A
A
C
C
T
G
G
A
A
A
G
T
G
G
A
G
C
T
T
G
G
A
G
T
G
A
G
C
A
G
A
G
A
T
C
G
T
G
C
C
A
200
C
T
G
C
A
A
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
GT
250
ATCTGGTCAA AGTTACACAG CAAAATCTAA CTTAACA
C
AT ATATGCAAAA
300 |
var(288):[T:0.0118]
AAAAAA
A
TTG TGCAATTCAA TGCCACTTTC CCTTCTGGCA AACTAAGGAC
350 |
var(307):[:0.9518]
ATGCTTAACA TTCAGCAATA GGTTCAC
C
C
G
A
C
A
T
T
T
G
C
T
T
A
G
C
C
C
T
A
G
A
T
400 |
REPEAT
A
C
T
G
T
G
C
A
A
A
G
T
A
C
T
T
C
C
A
T
A
T
A
T
A
T
C
C
T
T
T
C
C
T
T
G
T
A
C
C
C
T
T
A
C
A
G
C
A
A
450
T
A
C
T
C
T
C
A
A
A
G
A
G
T
T
A
A
A
G
T
G
T
T
C
T
T
A
T
C
C
C
T
G
C
T
T
T
A
C
A
G
A
T
G
A
T
A
A
A
A
500
C
T
G
T
A
T
C
T
A
A
G
A
A
A
G
A
T
T
A
A
G
C
T
G
C
A
C
G
T
A
T
T
C
T
C
A
C
A
G
T
T
A
A
T
TTGCTC
550 |
var(534):[A:0.3871]
TAAGTCTGAC TGCATAGATG TTACTCCTTC TGCAACACGG GTAAAATCCA
600
CTTTCATTGT TTCAATTATC CACCATGTAA GTGCCTATGA TTCCCCAATC
650
GCATTTCTAA TTTTAGTATT CATCCTGAGC CCCAAATCTA TCCACAGCAT
700
TCAACAGTTC TCATCTCCCT TATAAGT
C
CT ACGAACTCAT CCAAAAAACG
750 |
var(728):[T:0.0054]
AACACATAAT CCCATATCAA AACTTGTTCC TTCTCCTTTA ATCCCTTTCA
800
TTTTTTTTCA CTG
A
TTAGTG AATGCATATT GTCC
A
CTAAA ACGCAGAAGA
850 |
var(814):[T:0.0054]
|
var(835):[T:0.0753]
TAGTCATTAC ACAAATAGCT GTGAAATACC ACCTGACATA AATTCTCTAT
900
TCCAGTACCA TCGGGTG
C
CA CGAGAGCATA TGATAGCGTC TGACATGATC
950 |
var(918):[T:0.0323]
AGAA
A
GACTG GGGAAGGCAA CAGTAAGAAA ACACTAGTCT GAGCAGAGGC
1000 |
var(955):[G:0.0054]
CTTGTTCTGG GTGGGAGCAT GGTTCTATTT ATAGTGATGA CTGACCGGCC
1050
AAAGGTT
A
GT AGGTTCGCTG CCTCTTCAGT GCATATTCCT ATGAACAATC
1100 |
var(1058):[G:0.1627]
CATAAAGTCG CCTAATGAAG TGTTAGCACC ATCGTTTTTA GGTGGGATGC
1150
AAACTTTCAA
T
ATTATGACT AATTTTTTCC CTCTTAATGG TACACGTTCT
1200 |
var(1161):[G:0.0723]
GCCTAAGTAG CCTAGACGCT CCCGTGC
G
CC CGGGGCGGGT AGGCCTGGCC
1250 |
var(1228):[A:0.1304]
GAAAATCTCT CCCGCGCGCC TGACCTTGGG TTGCCCCAGC CAGGCTGCGG
1300
GCCCGAGACC CCCGGGCCTC CCTGCCCCCC GCGCCGCCCC GATTTGCCCT
1350
CAGAGAGGGT ATCGATCTTA TTTCTGGGTC TACGGCAAAC TCCAAGGTCT
1400
ACAAACGTAG AGGTCAGCTG TGACCCCG
G
G CCAGG
C
CGTG AAGGTCCCCA
1450 |
var(1429):[C:0.0761]
|
var(1436):[T:0.0054]
GGACACA
G
AG CTGCTCTCTC CTCCTAGTAA AGGTGAGAGG CAGCCCAGGC
1500 |
var(1458):[C:0.0054]
CTCGTGAAAA AACCCAGAAC TGGAGTCCCA AAAGGCCACG CTGATCTAGC
1550
TACCCTCCCA GTCACCTTGC ACTCAGTCCC GAGCTGCCAA AGCCTCCGCC
1600
GCC
A
CCACCT CCGCTCTACT TCCGGCCCTG GCTCCGCCCC CACACGCCTA
1650 |
var(1604):[G:0.0160]
CC
C
GCCATCG CAATGCATTA TGGGCCGCCG TTTCAGTCGG TCGACGCTCA
1700 |
var(1653):[G:0.0213]
CCGGACAGGA AGCGTCTCGG AGACAGTCTG CGACCGGACG GGTCTAGGTG
1750
AGACAGAAGC CAAACAGGAG GAGGAAGTGG AGGGTAAGTG CTTCCGGGTC
1800
CCCTGGCACA GCCTCCGCCA TCTTTTCTTC GCCTAATTTG ACCCGTTCTT
1850
TTTCCCCTCC TTGAAACCTT GCTCTGTACG CATGCGCTCT TTGAGTGGCC
1900
TTTCCCCTAG TT
C
A
A
GCT
C
C CCTCCGAGTC AGCGTCCTGT TCGTTAGGGT
1950 |
var(1913):[G:0.0109]
|
var(1915):[G:0.0054]
|
var(1919):[G:0.0054]
T
ATCGAAGTG TATAAAGGTG CAGGGAAAGT GAGACTGTGT AAAACAAAGC
2000 |
var(1951):[A:0.0057]
GGATTGGGGC GTTGTGCTTC CTTGTACCTC GTGAGCCTCC GTTGCCTTGG
2050
GCGGTCGTTT TGCGCACCCT GCCGGGAGTT GTAGTCCTGG ACCCGAAGGT
2100
G
C
C
T
G
G
G
A
G
G
C
G
G
G
A
G
G
G
G
G
G
T
T
G
G
G
G
C
T
T
C
T
C
A
G
C
G
C
C
G
A
T
T
C
C
G
C
G
G
G
2150 | Exon 1 |
UTR
A
A
G
G
G
C
C
C
T
G
G
G
A
C
C
T
C
A
C
A
C
T
T
C
T
A
G
T
C
G
C
G
G
G
A
G
C
T
G
C
A
G
G
T
C
T
T
A
C
C
2200 |
var(2182):[A:0.0135]
|
var(2198):[C:0.0068]
C
G
G
A
G
A
G
A
C
G
C
T
G
C
A
C
G
T
G
G
A
G
C
C
C
T
C
G
C
C
G
C
T
G
C
C
G
T
T
C
T
C
A
G
C
C
G
G
C
T
2250
C
T
G
G
A
G
T
G
C
G
G
G
C
G
G
G
G
G
C
G
A
C
A
G
G
G
C
C
G
A
T
T
C
C
G
G
A
G
T
G
G
GTGAGTGCG
2300
GCCGCCGGGG AGGAGGGGAG CGCGGGCCCT CGCGGGCCGG CCTCGTTCCG
2350
GGGCCTTTTC CCCCACAAGG GCCCCCCCGC GGCCGCCTCT GTGTTTTGTT
2400
TCCGCTGGTC CCCGGCGCTG TGACTCCCAT TTCCGTTCGT GGAGACTTGA
2450
GGGAGCCGGG TGGGGAGGGG CGGGAGAGCT GTGCGGGGAG CGAAGGGGAG
2500
GGGCGGGGGG CGAGCGGCCT GGAGCCCGG
G
GGGACCGGGC ACCGCCGGGA
2550 |
var(2530):[T:0.0068]
CCCGTGCCGG ACGGGTCGCC TGTCGCCGCT CCCTCCTTTC
C
GCGTCCCCT
2600 |
var(2591):[T:0.0519]
CCTCGCCCGT CCGCACTCCT CAGCAGTCTC AGCCTGCTCA GCTGGGATGT
2650
GGTCCTGACG CCCCCGAGAT TTTAAGAGCA AAATGCAGAC CCTGTCTCAT
2700
CGCGGGACTC AGCGATTCAC TCATTTCAAA TCCGCTCTCT TTATAGAACA
2750
ACACACACCA GAATCATTTA TCAGCGTAT
A
TGGTAGCCAT CTGGG
T
TTTG
2800 |
var(2780):[G:0.0135]
|
var(2796):[:0.9857]
TTTTTTTGTT TTTAAGCAAG GAAGTAAACC AAGGAGATAA CAATGGGTTG
2850
TCTACTTGGA AATTTTTTTG TGTACTA
G
AA GACACGCTGT ATGTGCGTGT
2900 |
var(2878):[C:0.0054]
TTGGATTTAG GGACCCCAGT TTGATCAGGT TAGCGGACCG AGAGGACAAT
2950
GCCTAATATT GCATTGCAAG ATGATTAGAA ATTTAGAAAT AAAATTCA
T
T
3000 |
var(2999):[C:0.0753]
TCATAAGTAG TTTCCACTAA TAGCAGTAGG TCTGACTCGT GAGAAGAGCA
3050
AAGATTTAGC AGGATTCACT TGAGCGAATT GTAGAACGAG GCGGTGATAA
3100
CATTCTTCGG TAGTGTTATC TTGAACTTCA GAAGAAACCG CTCAAC
T
CTT
3150 |
var(3147):[C:0.0054]
T
AGCAACTGC TTGAGGGACT AGCCTGTCTC TCAGGGTTCC ATCCAGGCTT
3200 |
var(3151):[C:0.0054]
TCCAAGCTTC TTTATTTTTA GACATACAGT GACGCTGAGT GGACTTCAAG
3250
TCAATTTTAC CTGAATTGTG TATACAAGAG CATCTGTCAT GAGGCATGTA
3300
TAGTAATGAA
G
T
A
A
TTAAAT CATGAGCTAG ATGTTAGGTT GAAGCAAATC
3350 |
var(3311):[:0.0110]
ATCAGACCGA GT
A
CTAAATT AAAACTGTTG ACTTTAGCCT TCCCTCAACT
3400 |
var(3363):[G:0.0160]
CTTTATATAT AA
A
A
C
T
C
C
A
A
A
C
C
T
A
C
A
G
A
A
G
A
A
T
T
G
G
G
G
A
A
A
A
A
A
T
C
A
T
G
3450 |
REPEAT
C
A
G
T
G
A
A
C
A
C
G
C
A
G
A
T
A
C
C
C
T
T
C
A
C
C
T
G
A
G
G
G
T
C
C
C
A
A
C
T
G
T
T
A
A
T
C
T
T
T
3500
C
A
C
T
G
T
A
T
G
T
G
C
T
T
T
C
T
C
T
T
T
T
T
A
T
A
T
T
A
C
A
T
A
G
A
T
A
T
G
T
A
T
G
C
T
T
T
G
C
T
3550 |
var(3507):[C:0.0053]
|
var(3544):[A:0.0106]
T
T
T
T
C
T
T
A
A
C
TGCTACCTTT ATTTTTGAAA ATAAAAATGT CTTTTAATTT
3600
C
C
TCAGACAC AGAAAAGCAT TTGATAACTT AGGAAAATGT GCAGTTAATC
3650 |
var(3602):[T:0.0053]
TCGCAGGTAC CCCCACACTC CACTTATAAT ATATTGGGAA CAAAATGTTC
3700
TAAGCTCTGT AATAATGCTC TCCAATGAAG GACAATTCTC AAATTTATCT
3750
GTAGTTTCAA AAGGGAATGT TACACCTATC TGTATTTTAA AAGACACTAG
3800
CCGTTCCCAG AATTTTTCGT TAAATTCAAG TTTA
G
TTTGT ATCCCATCTT
3850 |
var(3835):[C:0.0054]
GTGAAACATT CCGAACCCCA GGTTGGATTT AATCCAGC
A
G AACCAGAGTG
3900 |
var(3889):[G:0.1033]
TCAAAGTATA TGAAATT
G
TT CTGTGCAGTT CTGGCGGGGG CAGCCCTTAG
3950 |
var(3918):[T:0.0815]
ACGGAGAAAC TGCAAGTAAT TTTCTCTCAG TTTTCCTAAG TATTGACATA
4000
GAAGCCTGAG GAATTGGTTT CAGAAAAAGA GATAAGACTC ACTCAAAAAC
4050
TGATATGAAA GATTTGGACT ATTTCTCAAA TCTCTGTTTT GCTTCTCTGG
4100
ACTAAGCATA GAGAACCAGG AGAGAAAGAA AGATTTAAGA GACTGAGTAA
4150
TATTTTTTGA CAGATCATTT AAGAAACTGA GTAATTTTTT TTTTCTCCAA
4200
AAGGGCATGG GTTTTTGTTT TGTTTTGTTT TTTCTCTATT TGGCACTTTC
4250
TAGGGATTGG TCTATAAATT TTTTGAAAGA TCATAGGATA AATTTCTTTG
4300
TAGCAACTTC CTATTTTAGT GTTTATGTTA GGGGAGCCCC AGGTGTCCCT
4350
GCTGATACGC CATTAGGGCC ACTTCTCAGC CTCTGGCTAC ATCATAATGC
4400
TTTTTTTTCT ATCTTGCCAA AGTTTCCAGA AAATTTATGT TTTCTAATTT
4450
TAAAAAAATT GGTTGTGGAG ATGGGAGTGG ACCTCTTTAT AAGCCCTGAA
4500
AATAAGTGAT TTTTT
T
T
AAG TGCTATTCTG CTATAAACCT GATTCTCACT
4550 |
var(4516):[:0.0275]
|
var(4517):[A:0.0108]
TTTTTCTGTA GACAACAGTT TTTTATAATA TATCTATTTT GTGTGGACAT
4600
TAT
T
T
C
C
T
T
T
T
A
A
C
C
A
A
T
A
C
T
G
A
A
A
T
T
C
C
A
T
A
G
T
G
T
A
T
A
C
T
T
T
C
T
C
C
A
C
A
4650 |
REPEAT
T
T
T
T
C
T
T
T
G
A
T
T
A
A
T
A
C
T
T
T
C
T
T
A
A
A
A
T
A
G
A
C
A
C
T
T
G
G
A
T
T
G
G
C
A
C
C
A
G
C
4700
T
G
T
C
A
C
C
A
A
T
A
A
A
G
C
T
G
C
C
C
T
G
A
A
C
A
T
T
G
T
C
A
A
T
C
A
A
T
C
C
T
G
T
T
A
A
C
C
A
A
4750
T
T
T
G
A
G
A
A
T
T
T
T
T
C
T
G
G
A
A
T
G
C
T
T
A
G
T
T
A
G
G
G
A
T
G
A
A
A
T
T
G
C
T
G
G
G
T
T
A
T
4800
A
G
G
T
A
T
G
A
G
T
A
T
GCTTGATA TACTTTT
C
TC CAGAATGTCT ACACCTGTGT
4850 |
var(4828):[G:0.0160]
GTACACCACA TCTCCAGAGA TAGGGGAATC TTATGTCCCT GCTAACTGCT
4900
CTCGTTATTT AATTTTCTGA CATTTGCCGC CGCCGCCGCC CCCTGCCCCC
4950
AACACACACA TGGTATAAAG TGGTAGTTTC TTGTTTTAAA TTGAA
C
TTTT
5000 |
var(4996):[T:0.0860]
GAATGATTTG AAT
T
TGGGCA TTTCTTTGTA TCCTGAGTTA TTTTGGTTTC
5050 |
var(5014):[G:0.0054]
CC
G
TTATGTG AATATCCTTT TCCTATGCTT TAACTACTTT TCTAATTTGT
5100 |
var(5053):[T:0.0699]
CCCTTTTTTT GGTTATCAAA TTCCAGGCCA TTGTCTATTC CATCGTCACT
5150
TTTGGGTATT GGAAACATCT TTCCATTCTG TAGCC
T
G
T
C
T
G
T
T
G
A
A
C
A
T
A
5200 |
REPEAT
A
A
T
C
T
T
G
A
T
T
T
T
T
A
T
G
T
A
A
T
C
A
G
A
T
T
T
T
T
C
T
C
C
T
T
A
C
G
G
T
T
A
T
G
T
T
C
T
T
G
5250
G
A
A
T
T
T
T
A
T
T
T
A
A
G
A
A
A
T
C
T
T
T
T
T
C
T
A
T
C
C
T
G
A
G
A
C
C
A
C
A
A
A
A
A
T
G
T
C
C
C
5300
C
A
C
C
A
T
T
T
T
C
T
T
C
T
G
T
T
T
C
A
T
A
G
T
T
T
T
G
C
C
T
T
G
T
A
T
G
T
T
T
A
A
T
C
C
T
T
T
A
A
5350
G
G
C
A
T
G
T
G
T
A
G
T
T
C
A
T
T
T
T
A
T
A
T
G
G
T
G
T
G
A
A
A
T
A
G
TTCTT
A
T
T
C
A
T
T
T
A
T
5400 |
REPEAT
|
var(5394):[A:0.0538]
T
C
A
A
C
A
C
A
T
A
T
T
G
G
T
G
G
A
G
T
G
C
C
T
G
C
T
G
A
A
G
G
T
A
G
T
A
C
T
C
T
T
C
A
G
A
G
T
A
C
5450
T
T
T
G
T
A
T
A
T
A
T
T
T
G
T
G
A
A
C
A
C
A
T
A
T
T
C
T
T
G
C
C
C
T
G
G
A
A
G
C
T
T
A
T
G
T
T
GTC
5500
CTTCAAGGTA GATCCCTACT CGGTTTCCAC CTGTTTTCTT CAGCCCTCAG
5550
GATGAATTCC ACAATTTTAC ACATAGCACC AGTTAAGGAA TAGGCTTTAT
5600
TGGAGAAAAG GAAGGCTTAT TAGACCAGCA TCAGCAAGAA AAAA
A
AAAAA
5650 |
var(5645):[:0.9080]
CCAAAAACAG AGGGTCTTCA TTTCTTCATC ATCCCCAAAA AAGCCTGCTG
5700
GAGCCTGCGC ATTCTGCTAG ATATGCACGT GAACAGAATC TGCGCAGTCG
5750
GCTAGATGTG CTTGTGAACG GAGCCTGCGC AGTCTGCTCC ATATGCATGC
5800
GTCCATCCCA GTGGAGAACC TTACCCTTTT ATTGTTCGTC CTTAAAGGGC
5850
AAGCCTGAGA GCAACCTTAA TTACGTGGGA AAAATTAGAT CATTTTGTAT
5900
CAGGCAGTCT AGATTTGGGT GCCAGCTATT TGTCAGAAAA CCAGCTACCC
5950
CATAGTTGGA GATATTGAGA ACTTAGGAGA GTTATAGCCC TTTCTAAAGT
6000
GGGAAGGGAG ACTC
A
G
T
T
T
C
T
T
A
A
T
G
C
T
A
G
T
G
T
A
A
C
A
A
A
T
T
A
T
G
C
A
A
A
T
T
6050 |
REPEAT
T
A
G
T
G
G
C
T
T
A
A
A
A
A
C
A
C
C
A
C
C
T
G
T
T
T
A
T
T
A
T
C
T
T
A
C
A
G
T
T
T
T
G
G
A
G
T
C
A
G
6100
A
A
A
T
A
T
G
A
A
G
T
A
G
G
T
C
T
C
T
G
G
G
C
T
A
A
A
A
T
G
A
G
G
T
G
T
T
G
C
C
A
G
T
G
C
T
G
T
T
T
6150
T
T
C
T
A
G
A
G
C
C
T
T
C
G
A
G
G
G
A
G
A
A
T
C
C
G
T
T
C
C
T
T
G
T
C
T
A
G
C
T
T
T
C
A
G
A
A
G
C
T
6200 |
var(6180):[T:0.0053]
A
C
C
T
G
C
A
T
T
C
C
T
T
G
G
C
T
C
A
A
A
G
C
T
C
C
T
T
T
C
C
T
C
C
A
T
C
T
T
C
A
A
A
G
C
C
A
G
T
C
6250
A
C
A
G
C
T
A
A
C
C
G
G
C
A
G
A
T
C
T
T
C
A
C
A
T
T
G
A
A
T
C
A
C
T
C
T
G
G
C
T
C
T
C
T
C
T
T
C
CA
6300
ATTTCCTCTT CTACTT
T
TAA GGACCTTCTA CTTTTATTTA TTTGTTTCAA
6350 |
var(6317):[C:0.1935]
G
A
G
A
T
A
G
G
G
T
C
T
C
G
C
T
G
T
T
G
C
C
C
A
G
G
A
G
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
A
T
C
6400 |
REPEAT
A
T
T
G
A
C
T
G
C
A
G
C
C
T
C
G
A
C
T
C
C
T
G
G
T
C
T
C
A
A
G
C
G
A
T
C
T
T
C
T
C
A
C
T
T
C
A
G
C
C
6450
T
C
C
C
A
A
G
T
A
G
C
T
A
G
G
A
C
A
A
C
A
G
T
T
G
C
A
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
6500
A
A
A
A
A
T
G
T
T
T
T
T
A
T
A
G
G
A
G
A
C
A
G
G
T
T
C
T
T
T
T
T
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
6550
T
T
G
A
A
C
T
C
A
T
G
G
G
T
T
C
A
A
A
C
A
G
T
C
C
T
C
T
C
T
C
C
T
C
G
A
T
C
T
C
C
C
A
G
A
G
T
A
T
T
6600
A
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
G
C
A
C
C
G
T
A
T
C
T
G
G
C
C
CTAGCTGC
G
T
T
T
T
A
A
A
A
A
6650 |
REPEAT
C
G
A
T
C
A
C
A
C
T
C
T
G
G
C
C
G
T
T
G
T
A
T
T
G
A
C
T
G
A
G
A
A
T
A
G
A
C
T
G
T
G
A
G
G
G
G
A
C
A
6700 |
var(6671):[C:0.0054]
|
var(6678):[C:0.2088]
A
G
A
G
T
G
G
A
C
A
C
A
G
G
G
A
C
C
C
C
C
T
T
T
A
G
G
A
G
A
T
T
G
T
T
G
C
A
G
T
A
C
T
C
C
A
G
G
T
A
6750
A
G
G
G
G
T
G
G
T
G
G
T
G
G
C
T
GTTG TACTGATATA CGCAATACAG AGCCTATATT
6800
TGGACAACCA TGGTTCATCC CCATCTGGAA TGATACCTAC TTAGGTTGAT
6850
ACACCAAAAC TGTGACATGG AGCCACAAGT GGTTTAGCCT CACCTCTGAA
6900
TAGCGTTCGT ATGAGATGGA GCTCAAAATA AGATTGCTCT ATGCAAAGCA
6950
TTTGAATGCA GTGCCTGATG CTCGGCGAGT AATGGTTAAT ACAAATGAAC
7000
ATTTAAATTC TTCATTTAGT GAAATCTTGT AAGTGGGAGC ACAACTCTTT
7050
TGTAAATGTC GAAATACCAA ATTTAGTGGA GCGTTCCTTT TAAAGGTACG
7100
CCTCTTTTTA GATGTGGTAG TACGCTTAGA ATAACTACTC AGAAGGTGC
T
7150 |
var(7150):[C:0.0114]
GTGGACTGAA AGTGCGTATG GAATTCAAAG ACATTCATTG ACCTACTGCG
7200
AGGTAGTTAA TAACAGAACC TGGTACTTAA CAGTATTA
A
C ACCTCAGACA
7250 |
var(7239):[G:0.0057]
TGTCCACAAA GAAATATCTA TGTATATTAG CTATTTGTGT ATTCTTTAGC
7300
ATTTTTAAAA TTCTA
A
TGTT TTTGTATCAG TGGTTTTAAG CAATAGATAA
7350 |
var(7316):[G:0.0057]
AAATTTTACA TGGGATAATT AAAAACTGAA GTAGTGGTCT GTTTAAAATA
7400
AAACCACCTC TGAAAAAATC ATTAAAAATT TTCTACTGTG TGTAATCAGG
7450
GAAATAATGT GCATATCTGT AATTTGTTAC TTTGTTTTGC TGTTTTATAA
7500
T
A
TTCTTGCA TTTATAAGAG ACATCATTTG TACCAAATCC TAGCTGATTA
7550 |
var(7502):[G:0.0187]
ATTTGC
A
TAT CATTGTATCA GTGTGATACT TTGCAGTAAA TTCTGCTACT
7600 |
var(7557):[G:0.0122]
AAGGTACAAC TTTCAGCTGA ATAAACATAG TTCATCTCCA TGTTAAGCTT
7650
CAGGTT
T
GAA TCTGTTATTG AGACTGAGTT GCTTTAATAT AGTTAACAGA
7700 |
var(7657):[C:0.0116]
CCCTTAACTT AATTTTGAGG TAACTTGTTG ATTGCAATTG GTCCCGAAAA
7750
CATCTCAGTA AATCCAGTAG ATTAATGAAG TT
G
TCATGTC AGGT
T
AATAA
7800 |
var(7783):[A:0.0588]
|
var(7795):[G:0.0116]
ACACCAGTTT TT
T
AAAAAAT TAGTTTATAA ATGTCATTTG TGGA
T
T
T
T
C
T
7850 |
var(7813):[A:0.3895]
|
REPEAT
T
T
A
T
T
T
T
A
T
T
T
T
T
C
A
A
A
C
A
G
G
G
T
C
T
C
T
T
G
T
C
G
C
C
C
A
T
A
C
T
G
G
A
G
T
G
C
A
G
T
7900
G
G
T
G
C
G
A
T
C
A
T
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
G
C
C
T
C
C
T
G
G
G
C
T
C
A
G
G
T
G
A
T
C
C
7950
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
G
A
A
G
T
A
T
T
A
A
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
G
T
G
C
C
8000
A
C
C
A
C
G
C
C
C
T
G
C
T
C
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
A
T
T
T
C
G
C
C
A
A
8050
G
T
T
A
C
C
C
A
G
G
C
T
G
A
T
T
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
T
G
C
C
T
G
C
C
T
T
8100
G
G
C
C
T
C
C
C
A
A
A
G
T
C
C
T
G
G
G
A
T
T
A
G
A
G
A
C
A
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
GA
8150
TTTTCTTCTA TATGTAAAGA CTACTTCCCC CTCTTCTGCT TGGCGTTTGC
8200
TTTTTATTTG GATTGGGTCT CTACTTCTTG TGTGTCATTT CGTTTATGTG
8250
GATAGTTTTA AAATATCTTA AAAAGTCACT CTTGCAG
G
A
C
T
G
A
T
C
C
T
T
T
G
8300 | Exon 2 |
UTR
A
A
A
T
A
C
T
C
C
A
G
C
C
A
T
G
A
C
T
A
A
A
A
G
A
G
A
A
G
C
A
G
A
G
G
A
G
C
T
G
A
T
A
G
A
A
A
T
T
G
8350
M T K R E A E E L I E I 12
A
G
A
T
T
G
A
T
G
G
A
A
C
A
G
A
G
A
A
A
G
C
A
G
A
G
T
G
C
A
C
A
G
A
A
G
A
A
A
G
GTTGGTGTTT
8400
E I D G T E K A E C T E E S 26
CTGAATTTAT CATTTTTTTT CAAAATATCA ATATACCTAA TTAAAACCAG
8450
GAAACAAGTC ATAGTTCTTT TGGACTGTCT TTTTTTAACT GTTCTCAGTA
8500
TTTTAGGGAA TAATGTATTG TTTTATTTCC TCTGACTTAA TGTGGTTGTA
8550
GCTGAGAGGG AAAGACAGTT TTAAACTAAT GGTAGTAAAA GGGTAAATGA
8600
AATCAAAAGC AATTGCTTTC AATAGTTTTC TCCTTTGGGG CATTTGATTC
8650
TTTATTCTTT TCCTCAGCAC TGGTTGCTTT AATTTCAGAA ATAGTTTAAT
8700
TCAACCTGA
A
C
T
C
A
T
T
T
A
A
C
A
A
A
T
A
T
T
T
A
T
G
A
G
T
A
A
C
T
G
T
T
G
T
A
A
A
C
A
A
C
8750 |
REPEAT
T
A
A
T
T
G
A
C
A
A
G
A
A
T
A
T
G
T
G
A
A
T
A
A
A
T
A
A
G
A
T
A
C
T
A
A
T
C
T
G
C
C
C
T
T
A
T
A
A
A
8800
G
G
C
C
A
C
G
T
T
G
T
A
T
T
T
G
A
G
G
A
G
A
C
A
TACAGG TATATGAGTA CTTACGGGAC
8850
CAGTACTAAG CATAAAATGT AGTGAAAAGT GTTAATTCTT GGAATAATAG
8900
TGGAATCATA CTTATTTGAA AGGAGGACAG TAGTAATGAG TTCAGAATCC
8950
AGGAGAGAAC ATGGGTAGAA ATAGACTTTG GGAGTCAACA AGAAGACTGA
9000
GGAAAGTAGT AGTTAATGGT CCCT
A
TTGTA CTCCGTGAAG TAGGAGGTGA
9050 |
var(9025):[G:0.0167]
GATAATAAGC TGAAAGTAAA AGGGATTGAA AAGTA
C
TAGA GATCTCTGTG
9100 |
var(9086):[G:0.3820]
G
A
GTAACAAA GGTTTAGAAG TTTCTGCAGT GGAACTGGAC AAGATAATTA
9150 |
var(9102):[C:0.0056]
AGGTTAAGGA GGATACTGAG TATTGAGAGT ACAGTTGAGA TTTAAAATCT
9200
TAAATTTTTA ATAGAGCTTT TCAACTTGTT TATCCCAGTT TTTCCAGCAT
9250
AAGAAAGAGG GAATGCATG
C
TTCTGTGGAA TTTCATGTAT AGATATT
T
G
T
9300 |
var(9270):[T:0.0978]
|
REPEAT
G
T
T
A
G
A
A
A
T
T
A
C
C
C
C
A
A
A
A
T
T
C
A
G
A
A
A
C
T
A
A
A
A
A
T
G
C
G
T
A
A
C
A
T
T
C
A
G
C
C
9350 |
REPEAT
A
G
A
T
G
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
A
C
A
G
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
9400
G
G
C
A
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
G
C
A
T
G
G
C
A
9450
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
C
A
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
G
C
C
T
G
G
C
C
T
9500
G
G
T
G
A
C
A
T
G
T
G
C
C
T
A
A
G
T
C
C
C
A
G
C
T
A
C
T
C
T
G
G
A
G
G
C
T
G
A
G
G
T
G
A
G
A
G
G
A
T
9550
T
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
A
T
T
G
T
G
C
C
A
T
C
G
9600
T
T
G
T
G
C
C
A
T
T
G
C
A
T
T
C
C
A
G
C
T
T
T
A
G
T
G
A
C
A
G
G
A
C
A
A
G
G
T
G
C
G
G
T
C
T
C
A
A
A
9650 |
NOT SCANNED
A
A
A
A
A
A
A
A
A
A
A
A
G
C
C
C
A
A
C
A
T
T
T
T
T
T
A
T
T
G
C
T
C
A
T
T
G
T
T
T
C
T
C
A
G
A
G
A
A
A
9700 |
REPEAT
C
C
T
G
G
G
A
G
C
A
A
C
T
T
A
C
C
T
G
G
G
T
G
G
A
T
C
T
G
T
C
T
C
G
G
G
T
A
T
T
T
C
A
T
G
A
G
T
T
T
9750
G
C
A
A
T
G
A
A
G
C
T
G
T
C
A
G
C
C
C
A
G
G
C
T
G
C
A
G
T
C
T
T
G
T
A
A
A
G
A
C
T
T
G
A
C
T
A
G
G
G
9800
C
T
A
G
G
G
T
G
T
C
T
G
C
G
T
C
C
A
A
A
G
T
C
A
T
G
C
T
T
G
A
G
A
C
T
C
T
C
A
G
C
A
A
G
A
T
G
C
C
T
9850
C
A
G
T
T
C
C
T
C
A
T
C
A
C
A
T
G
A
C
T
C
T
C
T
C
T
A
G
G
G
C
T
G
C
T
C
A
T
G
G
G
A
T
G
G
C
A
G
C
T
9900
G
G
C
T
T
C
C
C
T
T
A
A
A
G
C
A
A
A
T
G
G
T
C
T
G
A
G
A
G
A
C
A
G
A
A
T
G
G
C
A
A
A
G
T
A
G
A
A
A
G
9950
C
C
C
C
A
G
T
G
T
C
T
T
T
T
T
T
A
A
G
T
A
A
T
C
T
A
A
G
A
A
G
T
G
A
C
A
T
A
T
C
A
C
T
T
T
G
T
C
T
T
10000
A
G
T
C
T
T
C
T
G
G
T
C
A
C
A
C
A
G
T
C
C
A
A
C
C
C
T
A
G
T
A
C
A
G
T
G
C
T
G
G
A
G
G
G
A
A
C
T
T
T
10050
A
A
A
A
G
G
G
C
A
T
G
A
A
T
T
T
A
A
G
A
A
T
C
A
T
T
G
G
C
A
G
C
C
C
T
C
T
T
G
G
A
G
T
C
T
A
G
C
A
T
10100
G
C
A
T
A
T
A
T
T
T
A
T
A
C
A
T
G
C
A
T
G
C
A
C
A
C
A
G
A
T
G
G
T
C
C
A
C
A
A
A
G
T
C
T
A
A
A
G
T
A
10150 |
REPEAT
T
G
T
A
C
T
A
T
C
T
G
A
C
C
T
T
T
T
G
T
G
G
A
T
A
G
T
C
T
A
G
G
T
T
A
G
G
C
G
A
C
A
G
A
T
T
G
G
T
A
10200
A
T
T
A
A
T
A
T
G
T
A
T
G
A
C
C
T
A
T
G
T
G
A
A
G
G
A
G
G
C
A
G
T
A
A
T
T
G
T
C
G
T
T
C
A
C
C
T
A
A
10250
C
G
T
A
G
A
T
T
T
T
T
G
C
T
G
T
G
C
A
A
G
A
A
T
T
T
A
G
G
T
C
T
A
G
T
A
G
T
A
T
G
A
G
A
T
C
A
T
C
T
10300
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
G
A
G
A
A
A
T
T
G
G
T
A
C
T
T
T
A
G
A
T
A
T
T
T
G
A
G
G
T
C
T
T
C
10350
C
A
A
G
G
T
T
T
A
A
A
T
G
A
T
A
G
C
A
A
T
A
A
A
A
A
C
T
T
T
T
T
A
A
A
A
A
T
G
T
T
T
A
A
T
G
T
T
C
A
10400
G
C
T
A
G
T
A
T
A
A
A
G
T
A
G
T
T
C
T
T
T
A
A
A
A
A
T
T
T
G
T
T
T
T
A
A
A
A
G
T
G
A
C
A
T
T
T
G
A
A
10450
T
C
T
T
A
A
G
A
G
T
A
A
T
T
G
T
T
A
C
A
A
A
A
A
A
A
G
A
A
A
A
A
A
C
T
G
G
C
C
T
G
A
C
A
C
A
G
T
G
G
10500 |
REPEAT
C
T
C
A
T
G
C
T
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
A
A
G
G
C
A
G
G
T
G
A
A
T
C
A
C
G
10550
A
G
G
T
C
A
A
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
G
C
C
A
G
T
C
T
C
T
A
C
A
A
A
A
A
10600
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
A
G
G
C
A
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
A
T
A
C
T
10650
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
T
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
T
A
10700
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
C
C
C
A
G
C
C
T
A
G
G
A
A
C
A
G
A
G
C
G
A
G
A
C
T
10750
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
C
C
T
A
C
C
A
G
G
C
T
A
T
A
G
C
T
G
A
A
G
A
10800
G
T
T
T
G
G
T
A
A
A
A
A
G
G
C
T
T
A
C
T
T
A
A
A
G
T
T
T
T
T
T
T
T
T
A
C
C
T
T
A
A
C
A
A
A
T
A
A
C
A
10850
A
T
A
G
T
A
G
A
C
T
A
G
T
A
T
T
T
T
T
A
A
A
T
A
A
G
C
T
T
G
T
T
T
T
T
A
A
T
C
A
T
G
A
G
G
G
T
T
C
T
10900
A
T
T
T
T
A
T
A
A
A
T
T
T
T
A
A
A
T
G
T
T
T
T
A
A
G
T
C
A
A
G
T
G
C
A
A
T
G
G
C
A
C
A
C
A
C
C
T
G
T
10950 |
REPEAT
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
A
G
A
T
C
A
G
T
T
G
A
G
C
T
C
A
G
G
A
11000
G
T
T
T
G
A
G
G
C
C
G
G
C
C
T
G
G
T
G
T
G
A
A
C
A
T
A
G
G
G
A
G
A
C
T
C
T
C
T
C
T
A
A
A
A
T
T
A
A
A
11050
A
T
A
T
A
A
A
T
A
A
A
T
A
T
T
T
T
A
G
A
A
A
A
A
A
G
T
T
T
A
A
G
C
T
A
T
A
T
A
C
A
T
T
C
A
T
T
G
A
A
11100
T
A
T
C
A
T
G
T
A
T
G
T
A
T
C
T
C
A
T
T
T
T
A
C
T
T
G
T
A
A
T
T
T
A
T
G
T
G
A
A
A
A
C
T
T
G
A
C
A
G
11150
A
T
T
T
T
T
A
A
T
G
C
A
T
A
C
T
G
T
T
T
T
T
G
A
C
A
A
T
C
A
C
A
A
A
T
A
A
G
A
T
T
T
A
A
A
T
C
A
T
A
11200
T
T
T
A
A
A
T
T
A
A
A
C
A
T
G
T
T
G
G
A
A
T
A
C
T
T
A
A
T
T
G
A
A
T
T
C
C
A
C
A
T
T
C
A
C
C
A
A
T
T
11250
C
A
G
C
A
A
A
T
A
T
T
A
C
T
T
A
G
T
A
T
T
T
G
T
C
T
A
T
T
T
G
G
C
C
C
T
A
T
A
T
A
A
G
G
A
T
T
T
G
T
11300
A
A
G
A
G
T
T
A
T
G
T
A
G
G
A
T
T
A
C
T
T
A
C
C
A
A
A
G
A
T
T
T
T
A
A
C
C
C
T
T
T
T
G
A
A
T
T
C
A
A
11350
A
G
T
G
T
G
A
A
A
T
A
A
T
A
T
G
A
A
A
G
A
G
C
A
C
T
A
A
G
A
C
A
G
T
T
T
T
T
A
G
G
A
A
G
A
A
T
A
T
A
11400
C
A
T
T
T
T
T
T
T
T
T
TAAACGTTG AGCTGTCCTG ATTATAACCA GTTGTGTTCA
11450
TATTAAATTA AAGGGAAAGT CTTTTATTTA ACTTATTCTA TTTTTATATC
11500
TTTCT
T
TTTT TTTATGTGGG GAAGGGAAAT TGACTAGTAG AGATGGCATA
11550 |
var(11506):[C:0.0106]
CAGATTTTGA GGAGACAATG TGTCTTCCTT TC
T
GGGTCTA AAATTCTTCA
11600 |
var(11583):[C:0.0053]
AAATAACTTG AAAATGTAAT GCAAATGCAA ACATAATGTA TGTGCAATGT
11650
TTATATGTGT ACACATACAC ACATATGTAT GTACATACAT AATGAGGCAT
11700
ATTTACAAGG ATGCTTTAAA TTTCAAGCTT AGCATTTCTC TATGAAATTC
11750
AGTGTTCATT TTGGCAACAC TAGTTGGTGA TGAGCC
T
G
C
C
ACAGTATCTA
11800 |
var(11787):[:0.0112]
TGTAGAAATG ACTTTTCAAA GACCAGAAAT GTGTTTTGGT TTGGGATTGT
11850
GTTTTTAGCA TATTGTTGCT TTGAAATCCA GGGTAAAAAA TGTAACTGTT
11900
AGCACTTACA TCTTTAACAT TTAG
C
A
T
T
G
T
A
G
A
A
C
A
A
A
C
C
T
A
C
G
C
G
C
C
A
G
11950 | Exon 3 |
var(11946):[A:0.0105]
I V E Q T Y A P 34
C
T
G
A
A
T
G
T
G
T
A
A
G
C
C
A
G
G
C
C
A
T
A
G
A
C
A
T
C
A
A
T
G
A
A
C
C
A
A
T
A
G
G
C
A
A
T
T
T
A
12000
A E C V S Q A I D I N E P I G N L 51
A
A
G
A
A
A
C
T
G
C
T
A
G
A
A
C
C
A
A
G
A
C
T
A
C
A
G
T
G
T
T
C
T
T
T
G
G
A
T
G
C
T
C
A
T
G
A
A
A
T
12050
K K L L E P R L Q C S L D A H E I 68
T
T
G
T
C
T
G
C
A
A
G
A
T
A
T
C
C
A
G
G TAATTTTTAT TTTTGTAAAT TTCTATTGCA
12100
C L Q D I Q 74
ACATTTTAGT CTGCATAGGA ATATTTTTTG TTAGCCTTTT CTTTATAGCT
12150
ATAGACTTTA TCTCTGTAAG AA
G
ATTTGAC CTGTATTACT GTAAAATTTA
12200 |
var(12173):[T:0.0053]
AGTGTTTAGA AATAAAAAGG TTTTTAAGCA AAGTTTTCTC CATTTAAAGT
12250
TATATTTTAA ATATTTAGTA CTAAAACAAA TG
A
AACATTT GTTTTTTACT
12300 |
var(12283):[G:0.1667]
TTCACAAATA TAAAACGAGA AGTTTAAATA AATTAGAATC AAAGCTTAAA
12350
TATAAGTAGT AACAGTAGGA AGCCCATTGA CTTTTGAAGC TGAAGTGTAT
12400
TTCTAGCCAG CTTTTAACTT CTCAAACGTA TCATTTAACT AAATGATTTC
12450
TACATTTCTG
T
TTTACCTTT ATTTTCTCTA ACAGTAAGTT TTGGATAAGA
12500 |
var(12461):[A:0.0934]
ATTTAAATAT CAACTGATAG GTCCTGGAAT TTATTGTAAA AGG
A
TTTTAC
12550 |
var(12544):[G:0.0054]
CCATGGTAGT AGTATAATAT GTTATGTCTG AAACATATCC CGAGTCATAT
12600
TTTACAGTAT GTTTTAAAGA TAGGTAGTAC TT
T
TATGTAT GAAAGGTAGC
12650 |
var(12633):[G:0.0106]
AGCCTAAATA GGATTGCCCA TACAGTTTTC CATGACCTTC CTTAAACATA
12700
TGATTAAATA CTAGAGTTTT ATAC
T
T
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
G
A
A
A
T
G
12750 |
REPEAT
|
var(12734):[:0.3696]
G
A
G
T
C
T
C
G
T
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
T
T
A
G
T
G
C
A
G
T
C
G
T
G
T
A
G
T
T
T
C
G
G
G
T
C
12800 |
var(12796):[T:0.0109]
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
C
A
A
A
C
G
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
12850
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
T
A
C
A
G
G
C
C
G
A
T
G
C
T
T
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
12900
C
G
T
A
T
T
T
T
T
A
G
T
A
G
A
C
A
C
G
G
G
G
T
T
T
T
G
C
T
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
C
T
C
T
T
G
12950
A
A
C
T
C
C
T
G
A
T
C
T
C
A
A
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
13000
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
G
C
G
T
G
C
C
T
G
G
C
T
G AGTTTTATAC TATTTTTATA
13050
TTAACTTAGA TTAATGTATA TTGTTTCATC TTCTGGATCG TTTGATTTAT
13100
TTTATTCTTT ACTCCTTCCC CTGCCTGCCT TGTGATATGG GTATTCTGTA
13150
TATTACAGAA CTTTTTTATT AGTTTTTTAA AAATTCAAAT CATCATATGC
13200
TGCTACTATT TTTAATAAGA TATTGTTGTA CAATAAGTTG AAGTGTTTT
A
13250 |
var(13250):[C:0.0105]
ACAAAATTTG TGCATTTTAT TTGCCTTTTA ACCATACTTT AATCTTTTCA
13300
TTTCAATATA AATCTAGTAA TTGGTGGTGG GTAGGGAAGA TAGAGTGCCT
13350
CTAAAACTAG GGCATGTGGG AAAGTCTAGT AGTGTTACAA ATTTTAGGAT
13400
TTAAAGTTTT TTTCTCTTAA CAATGAGAGG ATGAGTTAGC TTAGTCTTTT
13450
TGGAAGACCA CCTCCCATTT AATATCTGTT AATGTTAAAT GTGAAATT
C
C
13500 |
REPEAT
T
A
A
C
A
G
T
T
C
C
A
C
T
T
C
A
G
C
A
A
A
T
T
A
T
T
C
C
T
A
C
A
G
A
A
A
T
G
C
T
C
A
C
T
T
G
G
G
T
A
13550
G
G
T
A
A
A
G
A
T
A
T
A
T
G
C
A
T
G
A
A
G
A
T
G
T
T
C
A
T
G
G
C
T
T
T
G
C
A
A
A
A
A
C
T
G
A
A
A
A
C
13600 |
var(13570):[G:0.0591]
A
C
C
T
C
A
A
A
T
G
T
T
C
C
A
A
A
A
A
T
GAGATTTGAT AGAATAGAAT TCGAGGTAGC
13650
CATTAAAAAC TGGTGAACTT GAGCTATATG GGCAAGGTAC GTTGAGTGAA
13700
AAAAATACTT ACAAAACACT CTAATTCT
C
T
C
A
C
G
T
A
A
T
C
T
T
C
A
C
A
T
C
A
G
T
13750 |
REPEAT
C
T
T
T
G
A
A
A
T
C
A
G
C
A
T
A
T
T
T
T
T
A
G
T
C
A
C
A
T
T
C
T
G
C
A
G
A
T
G
T
A
G
A
A
A
C
A
G
A
T
13800
T
T
A
A
A
G
A
G
G
T
T
A
A
A
T
A
A
T
T
T
G
C
C
C
A
A
T
G
T
G
T
G
G
C
T
A
C
A
A
A
A
G
G
G
T
A
T
A
C
T
13850 |
var(13809):[T:0.0798]
G
G
A
A
T
T
T
G
A
A
C
C
C
A
G
A
C
C
T
C
T
G
T
G
G
C
T
C
C
A
G
A
ACTCTCTT CACTTGTTTG
13900
AGACGAAAAA ACAAAAAACT TTTTTAAAGG TTTATAGTGA ATATAACTCA
13950
GT
G
T
C
A
C
T
G
G
A
C
T
T
T
G
C
C
T
G
G
T
T
T
T
G
C
T
C
A
T
A
T
G
T
A
A
A
A
T
A
A
A
G
G
A
G
A
A
T
14000 |
REPEAT
C
T
G
G
A
C
T
T
G
A
T
C
T
C
T
T
A
G
T
T
G
T
C
T
T
T
C
A
G
C
T
G
T
A
A
C
A
T
T
T ATTGCTTT
C
T
14050 |
var(14049):[T:0.0753]
TTATAACACT TGACCTATCC AAAATGAAAG TATGGCCTGC AGATTACCCA
14100
GGCTCTTCCA AGTTCTCAGA AAATAATAGT TGGATAAATG GTAATATTTA
14150
TAATTCATAT TGTC
A
TAGAA TTCAGGGCTA GCTTTGGATC TAAGGGCATT
14200 |
var(14165):[G:0.0053]
TTGCATTACT CCTTGTCCCC CTTTCCTCCT TAAAAAGGAT ATGAGGACCA
14250
CACTGACATG TTCTTCATGT CAATGCAAAC ATACATTTCA GTCAGAAGTC
14300
TTGCTGCTTA TGGTAATGCT GTGGGCTGAC TTGAAAGCTG AGGGAACAAC
14350
G
GCTAAGTTG CACTTTTTTG AAGAGTGTTA ACACAAGATC AA
A
TACCAGG
14400 |
var(14351):[A:0.0108]
|
var(14393):[G:0.0161]
CTTGAGTTTT GTCCTTGTTC TGGCTTTTAG TGAACTTGCT AATATGTTCA
14450
GTA
C
CTGAGA GCTTATACTT TCAGAGTTAC ATTTGCCATA GCTTCTAATG
14500 |
var(14454):[A:0.0054]
GATAATACCA GTGTCCACCA GACA
A
GGAGA AAAAAACTTG ACATTAAGAC
14550 |
var(14525):[T:0.0161]
AATTTTTAAT GAAATGTATA TTAATGGATG AAACTGTCAT ATTTAATCTA
14600
TCTGTCTACA AGGTTACAAG
G
T
T
T
T
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
T
T
G
G
14650 |
REPEAT
|
var(14622):[:0.0326]
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
G
T
A
T
T
G
C
C
C
A
G
A
C
T
G
A
G
T
G
C
A
G
T
G
G
C
G
C
T
C
A
C
T
G
C
14700
A
A
C
G
T
C
C
G
C
C
T
A
C
C
G
G
G
T
C
T
A
A
G
C
A
A
T
T
T
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
14750 |
var(14703):[T:0.0870]
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
C
G
C
C
A
C
C
A
C
T
C
C
T
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
G
14800 |
var(14783):[G:0.0163]
|
var(14798):[C:0.2174]
T
G
T
A
T
A
G
A
C
A
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
T
C
A
G
A
14850
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
T
G
G
A
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
T
14900
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
C
GTACACAGTT TGTCTTCTCC CCTGTTCAAG
14950
TTAGATTCAT AGTCATTTGT CATGTGTTTG TGCCATGAC
G
ACACCATCAG
15000 |
var(14990):[A:0.0053]
TTGAATTCTT GGGAATG
C
G
A
GTAGGACATG CAGCTTTATG ACATGCAGAC
15050 |
var(15018):[T:0.0106]
|
var(15019):[C:0.0532]
|
var(15020):[T:0.0532]
ACAGTTATAA ATTATGCAAG ATGATTATAA TGGAAGCCTG TC
T
TTAAGCT
15100 |
var(15093):[G:0.0053]
GATGACAGAA AGTGTCTGAA AGTCAGAATT AATGTTTTAT CATCAATTTG
15150
CCATAGTGTG AAATGCATTC TATAAGGATA TATGAAGGAA AAAACACTAA
15200
TACTGAAATG ATATAGAATT AGGATTCAAG ATATTCATAG CTAGGTTAGG
15250
TAGTAAGGTC ATAAGTGCTT TAATTTTATT AACTTTATGA TGAGAGATTT
15300
AGAGTAAACC CTTATCTTCA ATATGTAGCA TTGATTACAA GGCAGATATG
15350
ACAAGAATAT GTTAATATAT TTAGATAAAT TATCATGACT AATTAAACAC
15400
TTTTACTTAT TCATGACAGA TATAGCATTA CCTTCTACTT TAAATACATT
15450
TCAGAATGAA TAATTGCCTT TTGGAATTAT TTAAAATCCC AAACTAGACT
15500
CCAGAGGTAG AGAAAACTGA CATGACAAAT TTGGTGGTAT GCTGTCCTCA
15550
ATTACTTCCT CAGTGGTGAA AATATTTTAG ATTTTGGCAA AGAATTAAAT
15600
ATGACAAGCT AAATAATGTG TTCTTATAAT TTAATTAGTA TGTTCAGTAA
15650
TTAAGTTCTG TTTGGTACAT CCATTTATTC TAAACCAAAG GCAAGGGACT
15700
TAATCTAATG ATTGCACTGA AATAATCTTA CTCATTTTAT CCATGGTTAG
15750
74
C
T
G
G
A
T
C
C
A
G
A
A
C
G
A
A
G
T
T
T
A
T
T
T
G
A
C
C
A
A
G
G
A
G
T
A
A
A
A
A
C
A
G
A
T
G
G
A
A
C
15800 | Exon 4 |
var(15792):[G:0.0056]
L D P E R S L F D Q G V K T D G T 91
T
G
T
A
C
A
G
C
T
T
A
G
T
G
T
A
C
A
G
G
T
A
A
T
T
T
C
T
T
A
C
C
A
A
G
GTAAG TTACTTTTCA
15850
V Q L S V Q V I S Y Q 102
TGATAGTTAT TTA
A
AATTTT AGCTCATGTT TTTCTGATAC
A
ATTTATAAG
15900 |
var(15864):[C:0.0056]
|
var(15891):[G:0.0056]
TTTTTAGGTG TTTTCGATGG TTGTCTACAT TACTTGATAT GATATAATAG
15950
CCAAAATTCA TGCTTTGGGT TTAGTAGTTT TATTTGACAG GGTGAAACAG
16000
ATAGTACAAC ACATTCTACT TAGTTCAATC ATAAAAGGAT ATATTATATG
16050
GTAGTAAATA GCAGAATCAG AGAGAGTACT GGAAGTCAGC AGGTTGCAGC
16100
TGACTTCCTA AGAGTACCTC AGCCACACTG CAGAACTGGA CTGCTAAGGA
16150
AGCTGCTGCC CTGCC
A
TGAT CTGGAAAATA CAACACCTGG AAGCT
A
CCAT
16200 |
var(16166):[G:0.0588]
|
var(16196):[G:0.1941]
GGTAGCTGTC ACTTTAACCA TGTTGCCTTT ACAGTGATCC ACACTAGTCA
16250
AAAAAATAGA TGTCT
G
C
T
G
G
C
T
G
C
G
G
G
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
T
A
C
C
A
16300 |
REPEAT
|
var(16287):[T:0.0529]
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
C
A
G
A
T
C
A
T
T
T
G
A
G
G
T
C
A
A
G
A
G
T
T
T
G
A
G
A
A
C
16350
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
C
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
G
A
A
T
A
A
G
16400
C
T
G
G
G
T
G
T
G
G
T
G
G
C
A
C
A
T
G
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
A
A
G
A
16450
C
A
G
G
A
A
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
G
G
A
A
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
A
G
A
G
A
T
T
16500
G
T
G
T
C
A
C
T
A
C
A
C
T
G
C
A
T
C
T
T
G
G
G
C
A
A
C
A
A
G
A
G
G
A
A
A
A
C
T
C
T
G
T
C
T
C
A
A
TC
16550
AGTCAATCAA TAAAAAAATA GATGTTATCT GCCT
C
A
A
T
G
G
T
C
C
C
C
A
A
C
C
T
16600 |
REPEAT
T
T
T
T
T
G
G
C
A
C
C
A
G
G
G
A
C
C
A
G
T
T
T
C
A
C
A
G
A
A
G
A
C
A
G
T
T
T
T
T
C
C
G
T
G
G
A
T
T
G
16650
G
G
G
C
A
G
G
G
G
A
A
T
T
C
A
A
G
C
G
C
A
T
T
A
C
A
T
T
A
T
G
G
T
G
T
G
C
T
T
T
G
T
A
T
C
T
A
T
T
A
16700
T
T
A
C
T
A
C
A
T
T
G
T
A
G
T
G
T
A
T
A
G
T
G
A
A
A
T
A
A
T
T
A
T
A
C
A
A
C
T
C
A
C
C
A
T
A
A
T
G
T
16750 |
var(16725):[G:0.1923]
A
G
A
A
T
C
A
G
T
G
G
A
A
G
C
C
T
T
G
A
G
T
T
T
G
T
T
T
C
C
C
T
G
C
A
A
C
T
A
G
A
C
A
G
T
T
T
C
A
T
16800
C
T
G
G
A
G
G
T
G
A
T
G
G
G
A
G
A
C
A
G
T
G
A
C
A
G
A
G
T
A
T
C
A
G
G
C
A
T
T
A
A
A
T
T
C
T
C
A
T
A
16850
A
G
G
A
A
C
A
C
G
C
A
A
C
C
T
A
G
A
T
A
C
C
T
C
G
C
A
T
G
T
G
C
A
G
C
T
C
A
C
A
G
T
A
G
G
G
T
T
T
G
16900 |
var(16855):[G:0.3261]
T
G
C
T
C
C
T
A
T
G
A
G
A
A
T
T
T
A
A
T
G
C
T
A
C
C
A
C
T
G
A
T
C
T
G
A
C
A
G
G
A
A
G
T
G
A
A
G
C
T
16950
C
A
G
G
C
G
G
T
A
A
T
G
T
G
A
G
T
G
A
A
A
G
G
G
A
G
C
G
A
C
T
G
T
A
A
A
T
A
C
A
G
A
T
G
A
A
A
C
T
T
17000 |
var(16990):[G:0.0114]
T
A
T
C
C
A
C
T
C
G
C
C
T
G
C
C
A
G
T
C
A
C
C
T
C
C
T
G
T
T
G
T
G
T
G
G
T
C
T
G
T
G
G
C
C
T
G
G
G
G
17050
T
T
T
G
G
G
G
A
C
C
T
C
T
G
ATCTGC CTGCTTGTCC TCTCTTAACC CTTTTCCAAA
17100
TAGAAGGCTT ATACCAGTGA TTCTAAAGCA TTGGTCACGC CTGGAACCCT
17150
AGCTGCAAAG AAATCCAACC AGTACAGTTT AGCACAGAGA GAAGAATTTG
17200
TAATAGAC
A
T AGAGTCATCC AGTCAACCTT ATTCATTACA GTATTTTACT
17250 |
var(17209):[G:0.0057]
AAACTTGTAT AAGTACCCAA GTTAGAAAAG AAAATTAGGA AACTGTTTTT
17300
GGTAGGTTGA ATTTTAGCTT TTTAAAATTT AGAATAATTT CATCTCTGAA
17350
CATATATTGT TCACAATTAT GTTTCACAAA CCACATTTTT CTTCAGACTC
17400
TGACAATGGT AGTTACGTAC TTCTGATCCT TAATTCCCTC AGGACTGATT
17450
ATTGGGAATA GGAAATAAAT TAGTAGTTTT TATCTTTAAA AGCCT
A
GTGA
17500 |
var(17496):[C:0.1948]
CCTCTTGATG CAAGTATGTT TAAGAAGAGT TCGCTTAAAG CCATTAAAGT
17550
ATGAAATCTA GATGAAGGAT TAGGAAATAG ATTTTAACAA AAAATATTTT
17600
TGATTCTGAT TGTTTTTATC ATGTATATTT GA
A
AAATGAT TCTCTTTAAA
17650 |
var(17633):[G:0.0263]
CTACCTGAGA ATGATAGTAG TAGTTTCTTG CAATACTGGT TTTCACAGAA
17700
GATCGAAGTT GAGTTGTGCT TTTTCTTTAA GCTGTACTT
T
GATTGAATTT
17750 |
var(17740):[C:0.0053]
TG
A
TATAGAT TGTAATAGAT TCAGTAAGAA ACAGAAGCAG TTATGTAATA
17800 |
var(17753):[G:0.0053]
TGACAGTGTC TTAGAGCTGT CATTTTAGAC TGAGGTTATT TCGTAAAGGG
17850
CTAATTCCAT TTTGAATAGA TAAATAAAAG TATATCTTAT AGAGAGTACT
17900
GCACACATAA TGAAATAACT GTTTTTATGG CATAATTTCT TGGCTTAATT
17950
ATAATTTAAT TAGGTATAAT CAAATTATAA TTTAATAGTT TAAATGTGTT
18000
TTAAACTATC CAGAATTAAA TCAAAATCAG AATTTTGATT TAATTCT
G
GA
18050 |
var(18048):[A:0.0054]
TAGTTGAGGA GCCTTTGTAT TAATAAATTA TTTATTTTTA TTTTTTATTT
18100
TTTCCATAGG AATTACAGTT CTTAACACCT TTATACTAGG AGCTTAAAAT
18150
ATTCAGGATT TGGGTTTTTC TTCATCTCAT TTAAAATGAA ATTTAGAATT
18200
TAATGGTTAA TTTAATTTAG TAAATTTGGC ATAATTTTTA ACACATCTAC
18250
TTTGTCCTTT AAAAAGAAAA ACTGAGTCAG TAAATAATAA TTTTAATTTG
18300
CTTAGAAGGA TTTTTTAAAA TTCCAAGGAT AGGTAGCTGC TCATTTATAC
18350
TCTGC
C
TAGT CTAATTTTTA TTGTTTCGTA TTGGTAATTT TTATTTTTAT
18400 |
var(18356):[T:0.0106]
TTATCTATTT ATTTTATTGT GGTAAGAACT GGTACTTCTT TTTTTCTAAT
18450
GATGTTTATA GGTAG
G
GTTT GTGTGTGTGT CTTAT
T
T
T
T
T
A
T
A
A
A
A
T
T
A
T
18500 |
var(18466):[C:0.0105]
|
REPEAT
T
T
T
A
A
A
C
T
T
G
T
A
G
A
A
A
A
G
T
T
G
C
A
A
G
A
C
T
A
G
T
A
A
A
A
G
A
A
T
T
C
T
T
G
A
A
T
A
T
C
18550 |
var(18536):[T:0.2120]
C
T
T
C
A
C
C
C
A
G
A
T
T
C
C
C
C
A
A
A
T
G
T
T
A
A
C
T
T
T
T
A
C
T
A
C
A
T
T
T
G
C
T
T
T
A
T
TCG
18600 |
var(18577):[T:0.0978]
ATGTAGTTTT TCTCTACCAT TTGGGAACAT A
T
A
A
ACTAAA TTATTTTTTG
18650 |
var(18632):[:0.0435]
GTGACTTCTG CGTTTTCATT TAGATTTACA ATTTTTTTTT ATCCACTGTT
18700
CAG
G
A
A
T
T
G
A
A
C
C
A
A
A
G
T
T
A
A
A
C
A
T
C
C
T
T
G
A
A
A
T
T
G
T
T
A
A
A
C
C
T
G
C
G
G
A
C
18750 | Exon 5
G I E P K L N I L E I V K P A D 118
A
C
T
G
T
T
G
A
G
G
T
T
G
T
T
A
T
T
G
A
T
C
C
A
G
A
T
G
C
C
C
A
C
C
A
T
G
C
T
G
A
A
T
C
A
G
A
A
G
C
18800
T V E V V I D P D A H H A E S E A 135
A
C
A
T
C
T
T
G
T
T
G
A
A
G
A
A
G
C
T
C
A
A
G
T
G
A
T
A
A
C
T
C
T
T
G
A
T
G
G
C
A
C
A
A
A
A
C
A
C
A
18850
H L V E E A Q V I T L D G T K H 151
T
C
A
C
A
A
C
C
A
T
T
T
C
A
G
A
T
G
A
A
A
C
T
T
C
A
G
A
A
C
A
A
G
T
G
A
C
A
A
G
A
T
G
G
G
C
T
G
C
T
18900
I T T I S D E T S E Q V T R W A A 168
G
C
A
C
T
G
G
A
A
G
G
C
T
A
T
A
G
G
A
A
A
G
A
A
C
A
A
G
A
A
C
G
C
C
T
T
G
G
G
A
T
A
C
C
C
T
A
T
G
G
18950
A L E G Y R K E Q E R L G I P Y 184
TAATAAAATG CATAATTCTA TATTGGGTAG AATAATAGGA ATTAAGCTTG
19000
ACATAGAAGA CACTAGGGTA AGTTATAATC TATTTTACAT GTAGAGTTAT
19050
TAGGATGAAT GTTGATTTTC TGTATCTCTC TTTTAATTGT AACGCACATT
19100
TAAGCTCATG TGGTGGACAA ATTCTGTCCT GCGTGCAGGA AATACAAAGA
19150
AGTCTAAAAA ATTTCTGCTC TTAGGGTGTT GAGAGTGTAG TTGAAGAGAG
19200
AGAAGATAGA TGAAAAGAGA T
A
ATTGC
C
AT AAAAGGTAAC ATGTTTTTAA
19250 |
var(19222):[G:0.0053]
|
var(19228):[T:0.3085]
ACTGCCAGTA ACTCTTGTAG AAGTATGCTA TTGGAATCTC AAAGAGATCA
19300
TAGTTGCCCT GAGGGAAAGC TGAAAAGAGT TTATTATAAA TAAGATACCA
19350
TTGGGCAGAG AAAGACATTT AAGACAGGAA ATGTTATGTG CAA
A
GCTTAG
19400 |
var(19394):[G:0.0054]
ACCTGGGGGT ATGCATGAGT AGTGAGAAAA TGGAGTGGTT AAGGAGTTAC
19450
T
CTGTAGCAT TACAGAA
C
TG TTTTTGATTG ATGAAAATGA TAATTGAAAA
19500 |
var(19451):[A:0.0272]
|
var(19468):[T:0.0978]
ATGAATATGG TGGCAATATA TGGCATAAGT TGGAACAGGT AGAGACTAAG
19550
TGAAGGGAAA ACAGGAGCAT ATTATTATAG TTGTGACTGG ATGATAATGT
19600
CTACATTAGC CCAGACTCCA GATGATTTCT TTGGGAGTAG CAAGGAAAAA
19650
GT
G
GATGAAA ACA
G
TGATAG GACTGAGCAG ATTGACAGAT TTTATGAGGG
19700 |
var(19653):[A:0.0057]
|
var(19664):[T:0.0170]
TAGAGAGGGA AGATACAAGT ATTGATCTAA CTTCTCAAGC TTCATCTTGG
19750
TGACTAAAAC AGTAATAATC TTGATAAAAA TTGGTTCCAT CA
T
C
A
T
T
A
C
A
19800 |
REPEAT
T
A
T
T
T
A
G
T
G
A
A
C
A
C
T
A
C
C
G
T
A
C
A
C
C
A
G
G
C
A
C
C
A
T
G
T
T
A
A
A
T
G
C
T
G
G
G
CTT
19850 |
var(19818):[T:0.0170]
AATTAAGATG GTGCACTATG AAGAGCATGC TTTCAAAAGC CCAGTTGGGG
19900
AAGTAGAGAA GTCTGGTATA GGAAATGTTT TTTTCAAGAG AAGGTGGATA
19950
GCACTTGATT TTGATGTGGA AGTTTATATT CAGCTGGAGG TTAGCCAGAA
20000
AATGGTTTCA GTTATATA
A
G
A
T
T
T
G
G
G
C
T
G
G
A
G
A
C
A
A
A
G
A
T
G
T
T
A
T
A
T
G
A
20050 |
REPEAT
|
var(20029):[C:0.0053]
G
A
C
T
C
A
T
T
C
C
C
A
C
T
G
A
A
T
T
T
A
T
A
T
T
T
G
A
A
G
C
T
A
T
A
A
A
A
G
T
C
T
A
C
G
T
A
G
T
C
20100
C
C
T
G
A
T
G
G
A
A
A
G
C
G
A
G
A
A
A
T
G
G
A
A
A
A
G
A
A
C
A
C
A
C
A
A
C
T
A
A
A
G
G
C
A
T
A
T
A
C
20150
A
C
T
T
G
A
C
C
C
T
G
T
A
A
A
C
A
T
T
T
A
G
G
G
T
T
G
G
A
G
A
A
A
A
G
G
G
A
G
A
C
A
A
G
A
A
A
T
A
A
20200
C
T
G
A
A
G
A
G
A
C
A
G
A
A
A
G
A
A
A
G
T
A
A
T
A
A
C
T
T
A
T
A
T
G
T
A
T
A
G
T
G
T
C
A
C
T
G
A
A
A
20250
T
T
G
A
G
G
G
G
A
G
A
G
T
T
T
G
G
A
T
G
G
T
C
A
A
G
A
C
T
C
T
C
A
G
A
T
G
C
T
G
C
T
G
A
G
A
A
A
G
T
20300
C
A
A
A
G
A
A
T
G
C
T
G
A
C
T
G
A
T
A
T
C
T
A
T
T
A
A
A
T
T
T
G
A
T
G
A
T
C
A
G
A
G
G
A
T
T
A
T
T
C
20350 |
var(20315):[:0.0161]
|
var(20337):[G:0.0053]
T
T
A
A
A
T
T
T
A
G
A
C
A
G
A
A
G
T
A
A
C
T
A
G
A
G
T
T
G
G
C
G
A
G
A
C
A
A
A
A
C
A
G
A
A
T
T
A
T
A
20400 |
var(20391):[T:0.0105]
A
G
A
A
A
T
A
G
A
T
A
T
C
T
T
A
G
A
A
A
T
G
G
G
G
G
C
A
G
A
T
G
A
GGAAGAA TGCTGGGGTA
20450
ACAAATAAAT AATACTGATC TTCCAAGAGT TGGCGGGGAC CTGAGTGTAT
20500
TTGTAAATGA AACAGTATTG TCGGGTTTTT GTCCTTTTTT TATTTTTTAT
20550
TTTTAGAGAC AAGGTTGTAC CTGGGGAGCA GGGCTGATGA CAGAAAGGCT
20600
GTATTGTAGA ACCACTGTTT TCCCTAGGAC ATTTTTTTTC TTTCTTTAAA
20650
CCAAACCTAA AAGATACACA GTAAATGAGA GAGCTTACCC ATGGAACTGA
20700
AAGAGAGCTA TGGAACCAGA CAGCTAATGT AGAATTTCAG TCTGTCC
C
T
C
20750 |
REPEAT
C
G
C
T
G
C
C
C
A
G
T
A
C
T
G
T
A
G
C
C
A
C
T
A
A
T
C
A
C
A
C
G
T
C
A
G
C
A
C
T
T
G
A
A
G
T
G
T
C
T
20800 |
var(20784):[G:0.3263]
C
T
G
G
T
C
A
A
A
A
T
T
A
A
G
A
T
G
G
G
T
T
G
T
A
A
A
T
G
T
A
A
A
A
A
T
A
C
C
C
A
T
T
A
A
A
A
G
A
A
20850 |
var(20813):[G:0.2097]
A
A
A
G
T
A
T
A
A
A
A
T
C
T
T
T
T
C
T
A
A
T
T
T
T
T
T
A
T
A
T
T
A
A
T
T
A
C
C
A
G
T
T
G
A
A
A
T
A
A
20900
C
A
T
T
T
G
G
A
A
C
A
T
T
A
A
G
T
T
A
A
A
A
T
A
A
A
T
T
C
A
T
T
A
T
T
A
A
G
A
T
G
T
A
T
T
T
G
A
C
C
20950
A
A
C
T
T
T
T
T
A
A
A
T
G
T
A
A
C
T
A
T
T
A
G
A
A
A
A
T
T
T
A
A
A
A
A
T
T
A
C
A
T
A
A
T
G
G
T
C
T
G
21000 |
var(20981):[:0.9086]
C
A
T
T
G
T
A
T
T
T
C
T
G
T
T
G
G
A
C
A
G
C
C
C
T
G
A
T
C
T
T
G
A
T
A
A
T
T
G
T
A
G
C
C
T
T
C
A
G
T
21050 |
var(21023):[G:0.0108]
|
REPEAT
T
C
T
G
G
A
T
G
T
T
C
T
T
A
C
T
G
C
A
T
T
A
T
T
T
T
G
A
T
A
A
A
T
A
C
C
T
G
T
G
T
T
C
T
T
T
T
T
G
C
21100 |
var(21085):[A:0.0108]
T
G
G
A
A
C
T
C
C
T
G
T
T
G
A
A
T
C
T
C
T
T
G
A
G
T
T
G
A
T
C
T
G
C
T
G
C
A
T
C
T
T
T
T
T
T
C
T
T
G
21150 |
var(21143):[A:0.0460]
T
T
T
A
T
T
T
T
T
C
A
T
C
T
T
A
C
C
T
A
T
C
T
G
C
A
C
T
A
C
T
T
T
C
T
G
C
C
A
G
A
T
T
T
T
C
T
T
G
T
21200 |
NOT SCANNED
G
T
T
T
T
T
A
A
T
A
T
A
A
C
C
T
A
T
C
T
G
A
T
T
T
T
T
A
A
T
T
T
A
C
A
A
G
G
G
C
T
C
T
T
C
A
T
T
T
T
21250
T
G
T
T
T
G
T
T
C
C
T
T
T
C
T
G
T
A
G
C
A
T
T
C
T
G
A
T
C
T
T
A
T
A
T
T
G
C
C
A
A
T
A
T
C
G
T
G
T
T
21300
T
T
C
T
C
C
T
A
C
T
T
C
T
C
T
G
A
G
T
A
T
A
T
T
G
A
T
T
A
T
A
T
A
T
T
T
T
T
T
T
T
T
A
A
C
T
T
T
T
A
21350
A
A
A
A
G
C
T
T
T
A
C
C
G
T
G
G
T
A
T
A
T
C
T
G
T
T
T
C
T
T
G
T
G
G
A
T
T
C
T
G
T
T
T
T
T
C
T
T
G
T
21400
G
G
T
T
T
T
T
G
T
T
T
G
T
G
T
T
G
T
T
T
T
T
A
A
C
C
T
T
T
C
C
C
A
A
G
T
A
T
C
T
A
A
T
T
A
T
T
T
T
T
21450
G
C
C
C
A
T
C
T
T
T
T
C
A
T
A
T
T
T
A
A
G
A
A
T
T
A
A
T
C
A
C
T
T
T
A
G
G
C
C
A
G
G
C
A
C
A
G
T
G
G
21500 |
REPEAT
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
T
G
A
G
G
C
A
G
G
T
G
G
G
T
C
A
C
T
21550
T
G
A
G
G
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
T
A
A
C
A
T
G
G
T
A
A
A
A
C
C
T
G
T
T
T
C
21600
T
A
C
T
A
A
A
A
A
C
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
T
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
21650
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
C
A
A
G
A
A
T
C
T
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
G
G
21700
A
C
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
A
A
T
T
G
C
A
C
C
A
G
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
21750
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
G
A
A
A
G
A
A
A
A
A
A
A
A
T
A
A
G
A
G
T
A
A
A
T
A
A
C
T
T
T
A
A
A
G
21800
C
T
A
A
T
T
A
A
T
G
C
G
A
A
G
T
T
C
T
G
A
A
G
G
A
T
T
T
G
A
T
A
A
C
T
A
T
A
T
G
C
T
G
A
T
A
A
A
A
C
21850
G
A
G
G
C
A
T
T
G
A
C
T
A
T
T
T
C
A
T
T
A
A
A
A
G
A
A
T
T
T
C
A
G
G
C
C
A
G
G
T
G
T
G
T
T
G
G
C
T
C
21900 |
REPEAT
A
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
G
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
A
G
A
G
G
G
T
T
T
C
T
T
G
A
21950
G
G
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
T
A
T
A
T
A
G
C
C
A
G
A
C
T
G
T
C
T
C
C
A
A
A
22000
A
A
A
T
A
G
A
A
A
A
A
A
G
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
A
T
A
C
A
C
C
A
A
T
A
T
C
C
T
A
G
G
A
G
G
22050
C
T
A
A
G
C
T
G
G
G
A
A
A
A
T
T
G
C
T
T
G
A
G
C
T
C
T
G
G
A
G
C
T
T
G
A
G
G
C
T
A
T
A
G
A
G
A
G
C
T
22100
T
T
G
A
T
G
G
C
A
C
C
A
C
T
A
T
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
G
C
A
A
A
G
C
A
A
G
A
C
T
G
T
C
T
A
A
22150
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
G
C
A
A
A
G
A
A
A
A
G
A
G
T
T
T
C
A
A
A
C
G
T
G
T
C
A
A
T
22200
A
T
T
T
A
T
A
G
A
T
C
T
T
T
T
T
G
C
A
G
A
T
A
C
C
T
G
T
C
A
G
C
A
G
T
A
G
A
A
G
A
T
A
G
G
G
G
T
G
A
22250
G
C
A
T
T
T
G
G
G
G
T
A
G
G
T
G
T
G
T
A
T
G
T
G
A
A
T
A
C
T
G
T
G
T
T
G
T
G
G
A
A
C
T
G
G
A
A
A
A
G
22300
G
A
A
G
T
A
G
A
G
C
A
G
G
G
A
G
G
A
G
G
T
A
G
A
G
A
A
G
G
T
G
G
A
G
A
C
G
G
T
C
T
C
A
C
T
C
T
T
C
A
22350
G
T
T
T
A
T
A
G
G
C
T
T
T
T
A
T
T
A
CT GGGAATTGTT CTCTCAGTGT CTGTTCGTGT
22400
CTCTCCCCAT CTATTAATAA ATGTTTTCCC GGTGTC
C
ACA TGTGTGGGGT
22450 |
var(22437):[T:0.0061]
GCACTCATTT AACTGGCCCC CCAAATGAAA GAGAGACCCT GGAGGTTCTA
22500
ACCACACCAT CTACTTTAAA TC
T
GTCTCCT TATTTTCAGC TTTAAGCCTC
22550 |
var(22523):[A:0.3494]
TTGCTACTCA GAACCACCAT GACTTGAACC AGTGAAGGGG GTTCTGCAGG
22600
CAGGAATTCT CTCACTTCTT ACTGGCATCC TCCTTGGCAA ACATTTTAGG
22650
TCATAGTTTT CCCCTCCT
A
T
G
C
C
A
A
A
T
C
G
A
T
T
A
C
C
A
C
T
C
T
G
C
T
T
A
T
T
G
T
C
22700 |
var(22669):[G:0.0723]
|
REPEAT
T
T
C
A
A
A
A
C
A
T
T
A
G
A
T
T
A
A
A
T
C
T
T
T
C
A
T
C
C
A
T
G
C
C
T
G
T
C
A
C
T
T
T
G
T
A
C
T
C
A
22750
T
G
T
T
C
C
T
A
T
G
A
T
T
T
T
G
C
A
T
C
T
T
T
T
A
A
A
A
A
T
T
C
C
T
T
T
A
C
T
G
T
T
G
T
T
T
T
A
C
T
22800 |
var(22751):[C:0.0172]
|
var(22797):[C:0.0798]
A
G
A
G
T
C
T
T
A
G
A
G
A
A
A
G
G
A
G
G
C
A
G
A
A
C
A
T
G
G
G
T
G
G
A
C
A
A
T
T
A
G
T
T
A
T
G
T
T
A
22850
A
A
C
C
A
G
A
A
G
T
C
CTGATATTT GAGAAAACAA ATCAGACAAA TTATATTTTT
22900
CCCTGAG
T
T
T
T
TTTTATTTT TAAATTTTTA TGTGAAATTA ACTTTGTTTT
22950 |
var(22908):[:0.2529]
TCTTTTAAAA GAGGTGTGTT TCAGGATAGC TTTTCTATTT AACTCTGCTT
23000
CTGTTGTTTT CAAGTAGTAT AGTACTCACA GATAAGGCAA CTTTCTTTTT
23050
CAGTTCTTGT CGACTTTTAC CTGGGCCTTC TCCTCTTTCC TTTTCCTTGG
23100
CGTCCCTCTG CTGCTCACTT CTAGTTCCAC TCTGCCAGTT TCTCCTTACT
23150
GTGGGCCATT CTCCTGAAAG TGGTTCTTGG CTCAGTTTGA CAAACACCCA
23200
GGTGCTACAT TGCTTCAGCC CTTTAAATCT TAACA
C
ACAC TGCAGCTATT
23250 |
var(23236):[T:0.0055]
GGATTGGGCG AAACTGCTTT TTAGCGTTGC TTTCATCTTG TCCTGTTGTA
23300
CTTTGAATGC ATGCTTCTTG GCTGCGCTCA GGTTTTCCTA TGATCAGAGT
23350
GGGTCACACT TCCCTTGCTT CCCTTTGCTT TCTCCTGCAC ACAAGCTAAG
23400
ACCATGGAGG TCTTATAGCT GTTATTGCTT TGTCTTTACC CTCTTGTATC
23450
TTGAGGTCCA TGAAGATATC TTGTCACCTG GTTTTATGTA AATGTTC
G
TG
23500 |
var(23498):[A:0.2151]
GGTTTTTGGT TTTGTTCTCC AGTCACTTTT TTATGTTTAT GTGTACAATT
23550
CAGAAAAATT AAAAAACTTT GCCACCATCT TCCTAGAATC CTCACTTAAC
23600
AACTTTATGG AAAAATTTTA AAATATATAT TCTGTGGCTA TTAATCCTGT
23650
ATTCTTAGAA TGCTTGCTTT TGCCTTTTGA GGCTAGGGCA CCTCTGTTCC
23700
TTTAGTCTCA AATGGAATAG TTTCAGTTTC AATAGCACTT TGCCTCTTTG
23750
AAGAACTTTT ATAAAATTCT TATGTTTGAT TTATTTTCAC TATAATTTGC
23800
CCTCGATACC TAAATGTTAT TTTTTTTCTA CTTTTCTTAT TGAATAGCAT
23850
TTATTTATTG GGTATATAAC CAATATTATT TGAATAGATC ATCTTCTTAA
23900
AGTGGGAGTA CCAGAACCAA AACTAATTTA GCTAATATGT ATTAAACTTA
23950
CACAGATAGA ATGCTCTATT AGGTGCG
G
GT GATACAGCAA TGTAATATTT
24000 |
var(23978):[A:0.0054]
ATAGATATTG GCCATATTTT TTTATTTATG AATTCAATTA GGTAGTAAAT
24050
GATAGGGAAA AGGAAAATTA TTTGGATATA CTCTTTAAGA TTAAACAAGT
24100
G
T
A
T
G
A
G
C
A
A
G
G
C
A
C
T
G
T
T
A
G
G
T
T
C
T
A
A
A
G
A
T
A
G
A
A
T
G
G
T
T
T
A
C
A
A
G
A
C
A
24150 |
REPEAT
|
var(24148):[G:0.0071]
C
A
T
T
T
C
T
T
G
T
A
T
T
T
C
T
T
A
G
T
G
T
G
T
T
G
T
G
A
G
G
G
G
A
C
A
G
C
T
G
A
G
T
A
A
A
A
C
A
G
24200 |
var(24164):[:0.3939]
G
C
A
A
T
T
A
CCA TGTTTATTTA TTTATTGGAA ATGCATCATA AGGGTAAATG
24250
CAGGAGCAGC CAGCTTTTTA CAGGAAGGAA AAGGGAGGAA AAAGGATATG
24300
GTTCATAGTT TGGAGAATAA AGCTAGCTTC TTAGAATCCC CTTTTG
A
TTT
24350 |
var(24347):[G:0.0057]
TTTTTCAATG CAACTGCAAA TTTTTTTAAA CTTGGATAAT TTACTTTATT
24400
CTCT
C
CAGAA TAATCTCATA TTTTATTCTT TCATTTGGCC CACTGGAGAG
24450 |
var(24405):[A:0.0056]
CAGTTTTGCA TTTTGTTTTT CTTGATACAG TTCCAGCTGA GGTTGAACCA
24500
AGTGACTGCA TCAGAAATTT AGATTAAGAA ATTGGAAAGG AGCTGAGGAA
24550
AAAATTACAG CATAATTTTT TTTTTTTTTT TTTTTTTTGC TTCATATAGT
24600
AAGTTTACCT CATATACTTG GGGAAAGAAA ACATCTGTGT GTATGTGTGT
24650
GTATTGAGAA GTTAACTGTA AATTTACACA GTATCTAAAA TGGAACTAGG
24700
CTAAAGTGAA TATTTTTCTT TCTAG
A
T
C
C
C
A
T
A
C
A
G
T
G
G
T
C
C
A
C
A
G
A
C
C
A
24750 | Exon 6
D P I Q W S T D Q 193
A
G
T
C
C
T
G
C
A
T
T
G
G
G
T
G
G
T
T
T
G
G
G
T
A
A
T
G
A
A
G
G
A
A
T
T
C
A
G
C
A
T
G
A
C
C
G
A
T
A
24800
V L H W V V W V M K E F S M T D 209
T
A
G
A
C
C
T
C
A
C
C
A
C
A
C
T
C
A
A
C
A
T
T
T
C
G
G
G
G
A
G
A
G
A
A
T
T
A
T
G
T
A
G
T
C
T
C
A
A
C
24850
I D L T T L N I S G R E L C S L N 226
C
A
A
G
A
A
G
A
T
T
T
T
T
T
T
C
A
G
C
G
G
G
T
T
C
C
T
C
G
G
G
G
A
G
A
A
A
T
T
C
T
C
T
G
G
A
G
T
C
A
24900
Q E D F F Q R V P R G E I L W S H 243
T
C
T
G
G
A
A
C
T
T
C
T
C
C
G
A
A
A
A
T
GTATGAAATT ACAGTTATTT CTTTACATTG
24950
L E L L R K 249
TAATTTAAGC TTAATTTTAT TTCCTTGTAA CTTTGTTTTC ATCTTAGTTG
25000
TTTATTGATA ATGATAAGTA ATAAGC
A
A
T
A
A
T
A
A
T
T
A
A
C
A
T
T
T
A
T
T
T
A
C
T
25050 |
REPEAT
G
T
A
T
A
A
T
G
C
T
A
T
G
C
T
G
A
A
A
G
C
T
C
T
A
T
A
T
G
T
T
C
T
T
T
A
A
T
T
C
C
T
A
T
A
G
T
A
A
C
25100
A
C
C
A
T
A
A
G
T
C
A
T
T
A
C
T
T
T
G
C
T
T
A
T
T
T
T
T
T
A
G
A
T
A
G
G
A
A
A
G
T
G
A
G
G
C
T
T
T
G
25150
A
G
A
G
C
C
C
C
A
T
A
A
A
G
T
C
A
C
A
G
C
T
A
G
G
A
A
G
T
G
G
C
A
G
A
G
C
C
A
G
G
A
T
T
C
A
A
G
C
C
25200
C
A
G
G
C
T
A
A
C
A
T
T
A
G
A
A
T
C
C
A
A
G
T
T
C
T
T
A
A
A
T
C
A
G
A
T
G
C
T
G
T
G
C
CCTACAC
25250
TTAGCCCTCT TCATATATTC CATTTGTTGC CTTCTGTTTG ATCAGCTCTT
25300
ACATTTACTG CTCATCTAGA AACGGAAGAG ATCATTTGTT TACAGGTGGC
25350
TTCCTACCCA TTCTCTTCAT TATTGATGAG ATTAAATCTT TTTTGAAGTC
25400
TTTACTATTA ATTGAAT
A
GA GTCTTAAGAG GGAAGGAAGT GTATGCAGCC
25450 |
var(25418):[G:0.0053]
ACCTTTTGGC ATTGGAAGCC ATTGGTTATA AGTTTTTCCA CTTATAACTT
25500
GTAAGGCTTC AGACATTATT ATGATTAAGT GACC
A
TGTAA AGAAATTGGA
25550 |
var(25535):[G:0.0160]
T
G
A
G
G
C
A
G
G
C
A
G
A
T
C
A
C
T
T
G
A
G
G
T
T
A
G
A
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
25600 |
REPEAT
C
G
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
C
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
A
G
G
C
G
G
A
C
A
A
G
G
25650
T
G
G
T
G
C
G
T
G
T
C
T
G
T
A
G
T
C
C
T
A
C
C
T
A
C
T
T
G
G
G
A
G
G
T
T
G
A
G
G
C
G
A
G
A
G
G
A
T
A
25700
G
C
C
T
G
A
A
C
C
T
G
A
A
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
C
T
G
C
G
C
C
A
C
T
A
C
25750 |
var(25745):[T:0.0163]
A
C
T
C
C
A
G
C
A
T
G
G
T
G
A
C
A
G
A
G
C
A
A
G
A
G
T
C
T
C
A
A
T
T
G
G
A
A
A
A
A
A
A
A
GAGAGA
25800
GAGAAGTTTG GAAACTACTT GGCTGTCCAA GAAAACAAGG CACAAATGTA
25850
AATTATTTTT GCTTGAATTT TAATCCATCT TATATTTCAG TCACTGTTAA
25900
GACACCGAAA GCAACCCATT CCTTGACAGT TTTGCATATC AGAAATGCTA
25950
GCCAGACCCA CATATTTTTC AGAACACATG ACTACAACAT ACTCTGACTT
26000
TGCTTTTGTA TCAGTTATGG ATGAAAATGT TAATGATAGC ATTTTGTTTT
26050
ATTATAT
A
CC CAATAAGGAG AGAGCTCTGG TGGAGGGATT TTTCCACCGT
26100 |
var(26058):[G:0.0105]
AATTCAATGC TTGCAGTTTT CATTCAAGGT GCTTTCTCT
G
G
C
C
A
G
G
T
G
C
A
26150 |
REPEAT
G
T
G
G
C
T
C
A
C
T
C
C
T
G
T
A
A
C
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
T
C
T
G
G
G
G
T
G
G
G
C
A
G
A
T
26200 |
var(26171):[G:0.0053]
C
A
C
T
T
G
A
G
A
T
G
A
G
G
A
G
T
T
GA AAGTGCTTTC TCTGCTGGTG AATAAGAAAT
26250
GAGCTCTGGA GAGAGGCATT TCTTAATTGT TTATAATTTT
A
TTCTTGTGA
26300 |
var(26291):[G:0.0110]
GGATTCTCCC AGATGTTTTT TTTAAGTATC T
A
TGATACTA AAAGACTTAG
26350 |
var(26332):[G:0.0109]
TACATTCATT GTATTTGCAG CATTTATTTC CAATTTCCAT TCTTACTAGA
26400
TAAGTAAGTT GAATGTCCTG GTTGAAGCTT TGTCCTTGGT TT
C
ACAGATT
26450 |
var(26443):[:0.0056]
TCCTTCCCTG CAGAGGTTTT GAAATGAATA AGGTAGATTC TGAATTGTGA
26500
AACATGTGAG TCATGTTTAT TGAAACACTT TCTTATAAGA AATCTCAAGA
26550
ACACAACAAA GATAGTGCAT AGATGGTAGT TTCATTTTTC CCAAATCCAC
26600
GTTTTTTCCA GTCTTTCCCA GGTCAGCTGT TTGTTGTGGC TGTCTCTTTC
26650
TGGTTCT
C
TT ATTGCTTCTC AAACTTTAAA GCTTATTCAT AGGCTTTTCC
26700 |
var(26658):[G:0.0054]
CAGAACAGAA GTCAAAGGTG TCTTGTGTAT CTTTCCATTT CCATGCAGTT
26750
GAATGAGTCT TCCTCAGAAA AGCTCTGCTC TGGAACCATT GCTTTGTCTT
26800
TTAAAGCAAC AAAGTCCCAC AGCCTAGATG AGTGTCTCAC GGAATTTCTT
26850
GGTGATCCAG CCATGGTTCT TCACTCTGCC GGGGTAGGGA AATCCCATCT
26900
GCTTTGGAAA TCTAGTGCTC AGTTCAGAA
T
TGGGAGATGG GCAGGATGAT
26950 |
var(26930):[C:0.0054]
GTGTAAGGGT ATTTCTAACA GACTTTCTAG AATTCACAAG TCTTACTTCT
27000
CAGAA
T
AGGG TTTTTTGAGC TCAGTGTAGT TAGTACTCTG GTCCCTTCTG
27050 |
var(27006):[C:0.3667]
TAGAGAGAAG TCTGCAGCCT ATCTGCGAAA GGCACTGATT CTGGGACA
G
A
27100 |
var(27099):[A:0.0066]
ACTGTTAATA ACCCAGCCTC TATTATCCAT CCTCAGTGAT CTCTCAAGAA
27150
GCAGCAGTAC TGAAGAGGTA GGGCTCCTTC TTCAGATATT TGTATGAGAT
27200
TATTCACCTG AGCCACCACC TGCCTGCAGT CCCCCCTATG TTGAAACTAC
27250
ATCCAAGTCC CACTATACAT GGGAGGATAA TTAGGAAATG TCCCAGTACT
27300
ACCAGTTCCA TGATGTCCTT CTCGGTGTGA ATCTCTGTCT TCTGTCACCA
27350
AAGGCAAATG AAGTTCTCAG TTTGCTAAGG GTTTTATTTA GGAAAA
A
TAA
27400 |
var(27397):[G:0.0112]
TTGTTTTATT CCTGTAGTGT CTAATGTTTC TTCATAAAAT GGCTCCATAT
27450
CCCCCAGGGC TTTGCCTCTC AAGACTGCTT ACTTTGTGTG TAGCAAGGAT
27500
TTGGAGGTTT CAGGGAGGAA TGTGATATTC AGAGTGCCTG TACTTTGAAG
27550
AGATTGGTCT TGGACCAGTC TTTCAAAAAC
T
TTTTTTTTT TTCCCCCTGT
27600 |
var(27581):[:0.9425]
GGTCTGCCTT CTGTCTTGAG AGTTTCCAGG AAACAGACCA AACTCCAATC
27650
TGAGAATTAG GACTTAGAAG GTGATTTTAC AAGTTGATTA TGCCTGTGCT
27700
GTGTGATGGT GATGCTTTCG TTTGCCTCTT TTGAGGCTAG GTTCCTTTAG
27750
TCTCAAATAG TTCCTCTTTG AGGAACTTTT ATAAAATTCT GAGGAAAATT
27800
TACTACAAAC ATAAAGTGCG TATTTTTTTT ATCAAGAGAG ACCACAGTTC
27850
TGGAGGAGAA TGCTCAGAAC TAGGAGTCTG GATAAAACAG TGAGGTTGTC
27900
AGTTGACTGA AAAAGTAACT GTTTTGTGCA CTGTG
C
TTTT TAAAAACATG
27950 |
var(27936):[G:0.0057]
TTTC
T
T
T
A
A
T
C
C
T
C
A
C
A
A
T
A
A
C
C
T
C
A
T
G
A
G
G
C
A
G
T
A
A
G
T
A
T
A
G
G
T
G
T
C
T
A
28000 |
REPEAT
A
T
T
T
A
A
A
C
T
T
G
A
A
G
A
A
G
T
T
A
A
T
G
T
T
G
A
A
A
G
A
G
G
T
C
G
G
T
A
A
T
T
T
T
A
C
C
A
A
A
28050
G
T
C
A
T
A
T
A
G
T
C
A
G
T
A
A
G
A
G
C
T
A
A
G
A
A
C
T
A
A
A
T
C
C
A
G
A
T
C
T
G
T
C
T
G
A
A
G
C
C
28100
A
G
TCCCATAT AATTCTTAAG TCCTCAGTCT TCAGACCCTC AAAGCTCCCA
28150
TCTGATAGGA TTCTGACCTC TTTTTACTTC CCCAACCTTT TCCAGCTCTG
28200
CGTGTCTGGA ACTGGATCCT GGCAAGGCAC CCTTAGCGGA GTCTTCTTGG
28250
GAGCCCAGGC CTC
A
GTACCC AGAATGATTG CTGGAGGGTA TAGTTTCAAT
28300 |
var(28264):[G:0.0057]
TTCAAGAGAG AGGCATGCAA TTTGTGATGG GCACAAAGTA GGCTGAAGTA
28350
ATAGAGACTG GGATGTGCAA
T
TCTTGTGAG AGGTAAAGAA TAACATCTAA
28400 |
var(28371):[A:0.0120]
GTAGGGAATA ACAACAGATA AGTAATGAAT GGTTCTGTAA AGCCTTATCT
28450
CAGGACCTTT A
T
AGTATTTT TATTTTGGGA ACTATATTTT TAAATGTGAA
28500 |
var(28462):[G:0.0060]
ATTATTTAGT TTAATTGAGA CATTTAGGAC TGCTACAATT GTGTTGAAAA
28550
TTTGCTGTCT TTAAGTAGAA GCATTATAAA GCTTAAGCAG CTTTAGTCAA
28600
AAGTGGATGT TATAACAAAT AATGGGAAGG A
G
GCCTTTTT GGTGGAGATA
28650 |
var(28632):[C:0.0054]
CGTACCTAAA TAATTTAATT TTGGTGTATA TTTTATCTTT GATCTGATCT
28700
TGAAGATTTC CATATTTTTA CATGGCTTTA TGTGGATTTC A
A
TACAAATG
28750 |
var(28742):[G:0.0278]
TTTACATTTA GAAAACCATA GTTCTCTGCA GAACTTTACT GAACACTAAA
28800
AGACATTGGA GCTTTTCCCT GTGTTATTTC TCTTAAGGTA TCTTTTCCTT
28850
TTAAAGTGAC TATCAAATAT TTTTAAGGTT TTTATGCCAG TAAGTTTCAG
28900
TTCAGTGTTT TGGTTTTAAT TGTGGAGTTC TTTTTAAAAG AACCATGTTT
28950
ATTAAGTTGA GTTTTATTGG ATTGGGGTTT TTATATTTTT GGTTTTAAAT
29000
AAAAACAAAA AATTTTTGTT TTTTTCAG
A
T
G
T
A
T
T
G
G
C
A
A
G
T
C
A
A
G
A
A
C
A
29050 | Exon 7
Y V L A S Q E Q 257
A
C
A
G
A
T
G
A
A
T
G
A
A
A
T
A
G
T
T
A
C
A
A
T
T
G
A
T
C
A
A
C
GTGAGTAT TTGTACCTAT
29100
Q M N E I V T I D Q 267
ATTTGCCCTT TTATTAATAA GAAATGTTTA TTTGATACCG CAAGGTAATA
29150
AAAAGGAAAA TTATTTAAAA AAATTTTTTT TCTACACACA AAATATCTTT
29200
TGTTCTGTGG AATGAAAGCT CGACACA
A
GT ACTTTATAAG ATCCACTCAT
29250 |
var(29228):[G:0.0944]
GTGTTTTTAA ATGATACGAT TAACATAACA GCTTGCTTTG TATCTC
A
GTT
29300 |
var(29297):[T:0.1011]
CACCAAAATT TGTTAGGACA TCATTTGTTT CATCTTTACT GACTGTTAAT
29350
TACCAAGTTG TAAGAACAAT TCTAACCACA TTCATACCTG ACAGAACTTT
29400
CATGCCTGAT AATAACTGGA TATTAGGTAG CATCCAATTG AAATATCAGT
29450
ATAGGTTGGA TACAGCAGAG AAAATATTCA AGTGTCCAAA ACAAACTTGA
29500
GGAGTTACA
A
TGGGTTTGAA ATGAAGAAAA AAGGCCAAGT TAAAATAGGA
29550 |
var(29510):[G:0.4158]
AAACAAATAG TTTTCATTTG GTGGGAGTTG CAATCAAAGT ATACAGTTGT
29600
ATACATTCTA ATGGATCATC TGTCCCATGT GGCATTTTCC AAGGCTTGAA
29650
GAGTCTACCA GGGCAAACCC TTCGCCGCCT CCACTACTTT TGCTTGGCTT
29700
TTCCCCTTTC TTTTCTCTCG CTTTGCCTTC AGCTTTATTC TTTACCTTTG
29750
ATTCATCTAT ATTGGGTACT GTACTTGCTA GAAGTACAGT CTAGAAGAGT
29800
CTTTTTGTTT CTCTTAATAT CCATCTCCAT TTTCATGTCA TCTTTTCCAT
29850
CTTTTACCTC ATGTTGCATT TTCTCTTGGC ATGTTTGGGT TTGGGTACCA
29900
CCACAGTTGC TGTCTCTTAA ACATCTTTCA TTAAAACATT ACTGTCTAGT
29950
TTGAGAATAC TTTTAAG
C
CT GCTGAGCTCT TTTGGGGCAT TTT
T
CCCCCC
30000 |
var(29968):[A:0.1923]
|
var(29994):[C:0.0215]
TTTTCAGCAT GCATCTTTCT TTTCCGCTTA TGCCATAAGC TTTTAGCTAT
30050
GTTTTACCTG AGGTACGAAC ACACACGTCA CAAGATCATC CCAACCGGCT
30100
AAAATTTTTA ATGAGGAATT TGAGATACAC AAAGAAAGTA TAACTAACAC
30150
CTGTGTACAT CATTAGAAAT AAAATTTTTT ACACCAAGTA TACCTGTTGT
30200
AGGTTTCATT TTCCTCTCTC CTACCAGAGA ACTATCTTGA ATTTTATGTT
30250
TATTACTGTC TGCATATTTT ATATTTTTAC CAACT
A
TGTA ATCGTAAACA
30300 |
var(30286):[G:0.0053]
CTGTATAGCA TTGTTTTCCA CATGTTTAAA CATTGTTTGT AAAATAATAC
30350
ATTGTACATA TTATTTTATA ACTTTTTTAT CA
T
T
T
G
A
G
A
A
T
T
A
C
T
C
A
T
G
T
30400 |
REPEAT
T
G
A
T
A
C
T
T
G
C
A
G
C
T
G
T
T
T
C
A
T
T
C
A
T
T
T
T
C
A
C
T
G
C
T
G
T
A
T
C TTTTAAATGC
30450
TGTGAAAACA TCATTGAATG AATATTTGTA AGAACATGTG TGAGATGTTC
30500
GTGTCATAGG GTTTCTATCC TTTCAGCCTT ACTCCAGATA TTGCCAGATT
30550
CTCAAAGTGG TGGTGTGAAT TCTCATTTGT CCACATTTAG TACAATATAT
30600
TTGACAAACC GTTTTTATGA ACAAATGTTT TAAGAACAAA CATGTTTAAA
30650
TACTCTTTGT CTAATGTGTA TGCATCACTA AGTTATTTCC AAACAA
G
AAT
30700 |
var(30697):[T:0.0060]
ACTAGCTCTT ACTAAGATGC ACAAACTATA ATGCAAGCGT TATACTTTAC
30750
CATCTGAACT TTTTTGTTAT TTTGTTTGAA ATTGTGGATT GAGGCTTTCT
30800
GTAGTGAAGT ACTTTCTTGG GGGTAATTCA TAG
G
GCATTA GTTAAAGTGA
30850 |
var(30834):[A:0.0238]
TAATGTCTTT CAGTAATTTT TTTTTTTTCC TGCTTGTATT GGAAGAAAAA
30900
AAATTTCTCC TTGTCTGTCT TTGCAG
C
T
G
T
G
C
A
A
A
T
T
A
T
T
C
C
A
G
C
A
T
C
A
G
30950 | Exon 8
P V Q I I P A S 275
T
G
C
A
A
T
C
T
G
C
T
A
C
A
C
C
T
A
C
T
A
C
C
A
T
T
A
A
A
G
T
T
A
T
A
A
A
T
A
G
T
A
G
T
G
C
G
A
A
A
31000
V Q S A T P T T I K V I N S S A K 292
G
C
A
G
C
C
A
A
A
G
T
A
C
A
A
A
G
A
G
C
G
C
C
G
A
G
G
A
T
T
T
C
A
G
G
A
G
A
A
G
A
T
A
G
A
A
G
C
T
C
31050
A A K V Q R A P R I S G E D R S S 309
A
C
C
T
G
G
G
A
A
C
A
G
A
A
C
A
G
GTA TTTTTGTATT TTCTTGTATT TATAAAATAT
31100
P G N R T 314
ATCTATCTAA TTAGGTATAT TTTGTTGTAT TTTACT
G
TAT GAAAAATGTG
31150 |
var(31137):[C:0.0160]
AATTTGGACT ATCCCTCTGG CAGTTTTTAG ACAGCATTTC TAGAAAAACA
31200
AAAATTGTTT TTGCCATGGC TGAGATTTAA ACCACGGGAC CAGTTTGTTG
31250
TCTTTGCCTT GGGCTAATCT ATAACACTAT AGCTAATGCT TTGTTCCTCT
31300
TACCAATTTA G
G
A
A
A
C
A
A
T