IL1A 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
C
C
C
A
A
T
T
T
C
T
T
T
G
C
T
G
A
G
T
C
A
T
A
G
C
A
A
G
G
G
T
G
A
C
C
T
T
T
G
C
C
C
A
G
T
T
C
C
C
A
50 |
REPEAT
A
C
A
A
A
T
T
C
C
C
C
A
T
T
T
C
C
A
T
C
T
G
A
G
A
C
T
T
T
G
T
C
A
C
C
C
T
G
G
A
C
T
T
C
A
T
T
G
T
C
100
C
G
T
A
T
C
A
C
T
A
T
C
A
G
C
A
T
T
T
T
G
G
T
C
A
C
A
A
C
C
A
T
T
T
A
G
C
C
A
G
T
C
T
C
T
A
A
G
A
A
150
G
T
T
C
C
A
A
A
C
T
T
T
C
C
C
T
C
A
T
C
T
T
C
T
T
G
T
T
T
T
C
T
T
C
T
G
A
G
C
C
C
T
T
T
A
A
A
T
T
C
200 |
var(198):[C:0.01]
T
T
C
C
A
A
T
C
T
T
T
G
C
C
C
A
T
T
A
C
C
C
A
G
T
T
C
C
A
A
A
G
T
T
G
A
C
T
C
C
A
C
A
T
T
T
T
T
A
G
250
A
T
A
T
C
T
T
T
A
T
A
G
C
T
A
T
A
T
G
C
C
C
C
A
T
T
C
T
T
C
A
G
T
A
C
C
A
G
T
T
T
T
C
TGTATTA
300 |
var(288):[A:0.20]
AGCCA
T
T
C
T
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
A
C
350 |
REPEAT
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
A
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
400
T
C
C
G
C
T
T
C
C
C
G
G
G
T
T
C
A
T
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
A
G
A
G
T
A
G
C
T
450
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
A
C
C
A
C
C
A
C
G
C
C
C
G
A
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
500
T
A
G
A
G
A
T
G
G
A
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
C
C
G
G
T
G
G
T
C
T
C
A
A
T
C
T
C
C
T
G
A
C
C
T
C
550 |
var(518):[G:0.05]
A
T
G
T
T
C
C
A
C
C
C
C
C
C
C
T
C
A
G
C
C
T
C
C
C
A
C
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
600 |
var(559):[:0.99]
C
C
A
C
C
A
T
G
C
C
C
A
G
C
C
T
G
T
A
T
T
A
A
G
C
C
A
C
T
C
T
T
A
T
G
T
T
G
C
T
A
T
A
A
A
G
A
A
A
T
650 |
REPEAT
|
var(628):[T:0.18]
A
T
C
T
G
A
G
G
C
T
G
G
G
T
A
A
T
T
T
A
T
A
T
G
G
A
A
A
T
G
A
A
G
T
T
T
A
T
T
T
T
G
G
C
T
C
A
C
A
G
700 |
var(673):[C:0.27]
T
T
C
T
G
C
A
G
G
C
T
G
T
A
C
A
A
G
C
A
T
G
G
C
A
C
C
C
A
C
A
T
C
T
G
C
T
C
A
G
C
T
T
T
T
G
G
C
G
A
750
A
G
C
C
T
T
A
G
G
A
A
A
C
T
T
T
C
A
A
T
C
A
T
G
G
C
A
G
A
G
A
G
C
G
A
A
G
G
G
G
A
G
C
A
G
G
G
A
T
G
800
T
C
A
C
A
T
G
T
C
G
A
A
A
G
C
A
G
T
A
A
C
A
A
G
A
G
A
G
C
A
A
T
G
G
G
G
G
A
G
T
G
C
C
A
C
A
C
A
C
T
850
T
T
T
A
A
A
C
A
A
C
C
A
T
A
T
C
T
C
A
G
G
A
G
A
A
C
T
C
A
T
T
C
A
C
T
A
T
T
G
A
G
A
G
G
A
C
A
G
T
A
900
C
C
A
A
G
C
T
A
T
T
C
A
T
G
A
G
G
G
A
T
C
T
G
C
C
C
C
C
A
T
G
A
T
C
C
A
A
A
C
A
C
C
T
C
C
C
A
C
C
A
950
G
G
C
C
C
T
A
C
C
T
C
C
A
A
C
A
C
T
G
G
G
G
A
T
T
A
C
A
T
T
T
C
A
A
C
A
T
G
A
G
A
T
T
T
G
G
A
G
G
G
1000
A
A
C
A
A
A
T
A
C
C
C
A
G
A
C
T
A
C
A
T
C
A
ATCACCCA TCTCCAGAGA AAAGGAAAAG
1050
GGAATTTAGA AACAAAAAAA AAAAGCACAT CCATCAGAGA ACAGATGAGC
1100
TAAGGTGAAG AGGTAATTGT AGCTAAATAG AAATTTGCTG ACTGAACGTG
1150
AAGCTGTCCC TTCCTGCTAT GGACTTCAGA TTTTAGCCCA CTTGAATTGC
1200
TCCATATCCT CCAAGCCATG GCCATCCCTT GACTCTCTGG GCTCCCAAGC
1250
ACTTGCTGCC TTCATCACAC AGTTTGAGTT AAGGCAGAAA GACTGGTTTC
1300
CATGTACACT TTGTGGAAGC TTTCTCATTT CTTTATATAA TCTCTGTCCT
1350
TTGTCTACTG CTTTAAAATC TAGAAATTGT TTACAAACAC AAAG
G
T
G
A
T
C
1400 |
REPEAT
C
T
T
T
A
A
A
A
G
C
T
C
A
A
A
G
C
T
G
A
T
T
G
T
G
T
C
A
C
C
A
A
T
A
T
A
T
A
C
C
A
C
T
C
T
T
A
A
T
G
1450
G
C
T
T
C
C
C
A
T
T
A
A
A
C
T
T
T
G
A
G
T
A
A
A
G
A
C
T
T
T
A
T
G
G
A
G
C
C
T
A
C
A
T
A
A
G
G
C
C
A
1500
T
G
A
C
T
A
C
C
T
G
G
C
T
C
T
T
A
T
T
T
T
C
C
T
C
C
T
C
A
T
C
C
T
C
A
T
C
T
C
A
C
C
A
A
C
T
C
A
C
T
1550
C
T
C
C
A
C
T
C
C
T
A
T
A
C
C
C
C
T
C
A
C
T
C
C
TTCCCC CTCCTCTCTC TGAGCTCCAG
1600
ACTCCCAATT ACCTACTTCC ACCCTTTTTG ACCCCCAGGG ACTTATCTCA
1650
GCCTGGAATT TTCCCTCTTT GCTCTCCACT GAACTGTCCA CTCCCAGTCT
1700
AAGACATGTG CTTATGTCAC AC
G
CCCTTAC CGTGCTTATC TCAGTTTGTA
1750 |
var(1723):[A:0.03]
ATTATCTACT CATTTAGAAA AGTGTTGATG AAGGTCTTCA CTGTCAGCTT
1800
TCAGGA
T
AGC AGGAATCATA GCTGATTTTA CTTACTTAAC GGGGTTTCAT
1850 |
var(1807):[C:0.03]
TCTTTGTAAC
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
A
C
T
C
A
C
T
C
T
T
G
C
C
C
A
G
G
C
1900 |
REPEAT
T
G
G
A
G
T
G
C
A
A
T
G
G
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
1950
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
A
T
G
C
2000
C
T
G
T
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
T
G
T
A
A
A
G
A
C
G
G
G
G
T
T
T
2050
C
A
T
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
A
G
G
C
G
A
T
C
C
A
C
C
2100
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
T
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
G
G
C
A
C
C
C
2150 |
var(2103):[T:0.12]
|
var(2143):[T:0.05]
A
G
C
C
ACTCCT TTTTTACTTA TGGGTGAGAA GCCATTAGAG ATTATTTCTT
2200
CTTTTCTTTC TCTCTTCACT AAGGCAC
C
A
G
G
G
T
C
A
C
T
A
A
G
T
A
G
T
A
G
G
A
T
A
2250 |
REPEAT
C
T
T
T
G
A
A
C
T
A
G
A
A
T
T
C
A
A
G
A
A
A
T
T
G
A
G
T
T
T
T
A
A
T
T
T
T
A
C
C
T
C
A
C
A
C
T
C
T
C
2300 |
var(2264):[C:0.42]
A
T
A
T
G
A
A
T
T
C
T
C
C
A
T
G
T
G
A
C
C
T
C
G
G
G
C
C
A
T
A
C
T
T
C
C
C
C
T
G
T
A
C
C
C
T
G
T
T
T
2350
C
C
T
C
T
T
T
T
A
T
A
A
A
A
G
T
A
A
G
A
G
T
T
T
A
A
A
C
T
A
G
A
T
G
G
T
C
T
C
C
G
A
C
A
T
G
C
A
T
C
2400
C
T
T
C
T
C
T
A
A
C
A
T
ATTCTGG
G
ACCTTCAATA AACTAAGATA AAGCAGAATA
2450 |
var(2420):[A:0.43]
ATTAAAACTT AATTTAAAAG AACACAGGAA AGGAAGCAGC TACATTAAGC
2500
AAAAGAGACA TCCTCATGGT TGAAGAAGTG TATGC
C
C
T
G
G
T
G
T
C
T
G
G
A
T
C
2550 |
REPEAT
C
C
A
T
T
T
A
G
G
A
A
A
C
T
T
G
G
T
A
A
C
C
T
T
G
C
A
A
T
C
T
T
G
G
G
C
A
G
A
T
T
G
C
T
T
A
A
T
T
T
2600
C
T
C
T
A
G
A
C
C
A
T
G
A
C
T
T
C
C
T
C
T
T
C
T
G
T
A
A
G
A
T
G
T
G
A
T
A
A
G
A
A
C
A
T
C
T
A
C
C
T
2650
C
A
C
A
G
G
T
T
T
C
A
T
G
A
G
A
G
G
A
T
T
A
A
A
T
G
A
G
A
T
A
A
T
G
T
A
T
T
A
T
A
A
T
C
C
C
T
T
G
A
2700
A
C
A
TGGTAGG CTGTTATGTT AAGTCCTTTC CTCCTTCTCT GTAGCTATCA
2750
TGGAATTTAA AAACACATTA TAACTAGAGC ATGAGTTGCG ACTAAAGGCT
2800
CAATTGTCTC TGCATGTGTT GGCTCATGCA TGCTTTATTC CTCTGAAGAG
2850
CTTTTATACC AAGTGAAAGG AAATAATTGC ATTTCCCTGA AAATTCACAG
2900
GAAAAAGTTA TG
T
TTTTCTC TTCATTCAAG TGATTCTGTT AGACCCAACC
2950 |
var(2913):[C:0.26]
ACATGCAACA ATTTTAAAGT TGCTTCCAAA TATATTTACA AATATTTCCT
3000
GTCTTCAAGG AACAATGGCA AGACCATGAC TCAGGTTCAC ATCCGGATTC
3050
CACCACTAAC CATGTACCCA ATTACTTCAG TCACCTTCAT TCAGGTCTTA
3100
CATATCACAG AATAAAATCA GATTTCATCA GAGGAGGTGA AGACAGGGAG
3150
AGGAGATATT TCAATCCCTT CTCCGCAACC CCCGTTTTTT TTTTTTTTTT
3200
AACAAGGATC CTAGAGTTAC TGAATGATAG CACGTTTGAG GGGGAAAGAC
3250
CCTAAGGATG ATCTTTATAA G
C
CATCACTT GGTGTTGGTG GTGATAAGAG
3300 |
var(3272):[T:0.36]
ACTCGAGTAT CTTTATGC
A
G
T
G
G
A
A
A
G
A
G
A
A
G
A
T
T
G
G
A
C
T
C
G
G
A
A
T
C
A
G
A
3350 |
REPEAT
A
G
C
T
T
G
A
G
T
T
C
A
A
G
C
A
C
T
G
G
T
T
T
C
A
T
C
A
G
T
C
T
T
G
T
G
A
T
C
T
T
G
G
G
T
T
G
G
T
C
3400
A
C
T
T
A
A
C
C
T
C
T
T
C
A
A
G
G
G
T
C
C
T
C
A
G
C
T
G
T
G
A
A
A
G
A
G
G
A
T
A
G
T
A
T
C
A
G
C
T
A
3450
A
T
T
C
T
T
G
T
A
G
G
T
G
C
A
G
T
G
A
G
G
A
G
G
C
A
G
T
G
A
G
A
T
A
G
T
G
C
A
G
G
T
A
A
A
C
T
A
T
A
3500
A
A
A
C
A
A
T
TGT CACATGAAAC GCATCACAGT GATTCTTTGG AC
C
CACAAGC
3550 |
var(3543):[A:0.01]
TCCAATCTTA TAAAACATAT CCAGTCACCC ACCAACATAG ATCATCTCAC
3600
CTTGCATATC TGATTTTGTG GATCATGGGG
A
AAAACTGCT GATTCCTAGC
3650 |
var(3631):[G:0.37]
AAAACCCATG GCA
T
AGGATA AGTGCACAAT AATTTTTTTT TCCTAAATGA
3700 |
var(3664):[C:0.38]
TTTAGATGAC AGTGACTCAT TAAGGGTTTC CTGAGGCCTC CTCAGAGTCG
3750
AGAG
G
TGG
G
T GCCTGAAGCC ACCCAAAGTC CCTGTCACAG GATGGCTCCC
3800 |
var(3755):[:0.03]
|
var(3759):[A:0.22]
AACGCACACA CCACAGGCCT GCCCAGTATG TTCCACTATC TACCCAGTAG
3850
AGCCCTGCCC AGTACGTTCC ACTGTCCCTT CCCTAGAAGA GGTGACTGTT
3900
GTTCACAGTC CCAGAAAAGC GGGCTCCCCA AAACAATGCA AGGACCCACC
3950
TCTCTCTGAA CCTCACCCAC CCTAGTTTTC CTTTAAAAAT CAATTTACAA
4000
GAAGATCATG TGAAGGAAAA GGTTGGGTGA TATTCTAACC CAAGTTAGCT
4050
GTTTCTCAAC CAAGTTCTCT TTGAAAAATT CAACAACCAC
C
TTTGGGGAA
4100 |
var(4091):[T:0.01]
TTATTTACAA CAGAGGAGTG AGGATGGGAC CAGGATAGGT ATTGCCTATG
4150
TTGGTGGAAC CAGGGTTTTT TTCCTGGATT ACCAAAGAGA TGGTATGCAT
4200
TGCTCCCAGA AGCTAAATAT CTTCAGGCTT TCAATGGTGG CCTTCACCTG
4250
AAAATGTTAT CCCTGTTGAA GCTTTCAAGC CAGTATTTTC ATAAGAACTA
4300
TATTTTCTTT GGTGAACTGA GGCATTATAA TGATGACTAT ACAGGTTCTT
4350
GAGTGACTGA AGCCATCATT AGCATTGTCA TTATTTTTGT TTAGTTGCAT
4400
CTCCATAGCA GCTCACATTC ACAATGTGCT TTGCAATTGT TCCTTAGCAA
4450
TAGCCCTCAC AAGATTCTCA GGAGGAGAGG GTTAATCAGG ATTAACATTT
4500
CTGTGTTGCC TAAAGAGGAA
C
CAAGGTAAG CAGAAATGTA GCCAGTTGGC
4550 |
var(4521):[T:0.18]
TGGCATCACT GTTGCTTCAG GATTCATCCT TAGACACCCA AGCTTCTACC
4600
CTAGTCTGGT GCTACACTTA CATTGCTTAC ATCCAAGTGT GGTTATTTCT
4650
GTGGCTCCTG TTATAACTAT TATAGCACCA GGTCTATGAC CAGGAGAATT
4700
AGACTGGCAT TAAATCAGAA TAAGAGATTT TGCACCTGCA ATAGACCTTA
4750
TGACACCTAA CCAACCCCAT TATTTACAAT TAAACAGGAA CAGAGGGAAT
4800
ACTTTATCCA ACTCACACAA GCTG
C
TTTCC TCCCAGATCC ATGCTTTTTT
4850 |
var(4825):[T:0.17]
GCG
T
T
T
A
T
T
A
T
T
T
T
T
T
A
G
A
G
A
T
G
G
G
G
G
C
T
T
C
A
C
T
A
T
G
T
T
G
C
C
C
A
C
A
C
T
G
G
4900 |
REPEAT
|
var(4876):[A:0.01]
A
C
T
A
A
A
A
C
T
C
T
G
G
G
C
C
T
C
A
A
G
T
G
A
T
T
G
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
A
T
A
G
4950
C
T
G
G
G
A
C
T
A
C
A
G
G
G
G
C
A
T
G
C
C
A
T
C
A
C
A
C
C
T
A
G
TTCATTTC CTCTATTTAA
5000
AATATACATG GCTTAAACTC CAACTGGGAA CCCAAAACAT TCATTTGCTA
5050
AGAGTCTGGT GTTCTACCAC CTGAACTAGG CTGGCCACAG GAATTATAAA
5100
AGCTGAGAAA TTCTTTAATA ATAGTAACCA GGCAACA
C
CA TTGAAGGCTC
5150 |
var(5138):[T:0.34]
ATATGTAAAA ATCCATGCCT TCCTTTCTCC CAATCTCCAT TCCCAAACTT
5200
AGCCACTGGC TTCTGGCTGA GGCCTTACGC ATACCTCCCG GGGCTTGCAC
5250
ACACCTTCTT CTACAGAAGA CACACCTTGG GCATATCCTA CAGAAGACCA
5300
GGCTTCTCTC TGGTCCTTGG TAGAGGGCTA CTTTACTGTA ACAGGGCCAG
5350
GGTGGAGAGT TCTCTCCTGA AGCTCCATCC CCTCTATAGG AAATGTGTTG
5400
ACAATATTCA GAAGAGTAAG AGGATCAAGA CTTCTTTGTG CTCAAATACC
5450
ACTGTTCTCT TCTCTACCCT GCCCTAACCA GGAGCTTGTC ACCCCAAACT
5500
CTGAGGTGAT TTATGCCTTA ATCAAGCAAA CTTCCCTCTT CAGAAAAGAT
5550
GGCTCATTTT CCCTCAAAAG TTGCCAGGAG CTGCCAAGTA TTCTGCCAAT
5600
TCACCCTGGA GCACAATCAA CAAATTCAGC CAGAACACAA CTACAGCTAC
5650
TATTAGAACT ATTATTATTA ATAAATTCCT CTCCAAATCT AGCCCCTTGA
5700
CTTCGGATTT CACGATTTCT CCCTTCCTCC TAGAAACTTG ATAAGTTTCC
5750
CGCGCTTCCC TTTTTCTAAG ACTACATGTT TGTCATCTTA TAAAGCAAAG
5800
GGGTGAATAA ATGAACCAAA TCAATAACTT CTGGAATATC TGCAAACAAC
5850
AATAATATCA GCTATGCCAT CTTTCACTAT TTTAGCCAGT ATCGAGTTGA
5900
ATGAACATAG AAAAATACAA AACTGAATTC TTCCCTGTAA ATTCCCCGTT
5950
TTGACGACGC ACTTGTAGCC ACGTAGCCAC GCCTACTTAA GACAATTACA
6000
AAAGGCGAAG AAGACTGACT CAGGCTTA
A
G
C
T
G
C
C
A
G
C
C
A
G
A
G
A
G
G
G
A
G
T
6050 | Exon 1 |
UTR
C
A
T
T
T
C
A
T
T
G
G
C
G
T
T
T
G
A
G
T
C
A
G
C
A
A
A
G
GT ATTGTCCTCA CATCTCTGGC
6100
TATTAAAGTA TTTTCTGTTG TTGTTTTTCT CTTTGGCTGT TTTCTCTCAC
6150
ATTGCCTTCT CTAAAGCTAC AG
C
CTCTCCT TTCTTTTCTT GTCCCTCCCT
6200 |
var(6173):[T:0.27]
GGTTTGGTAT GTGACCTAGA ATTACAGTCA GATTTCAGAA AATGATTCTC
6250
TCATTTTGCT GATAAGGACT GATTCGTT
T
T ACTGAGGGAC
G
GCAGAACTA
6300 |
var(6279):[A:0.18]
|
var(6291):[A:0.17]
GTTTCCTATG AGGGCATGGG TGAATACAAC TGAGGCTTCT CATGGGAGGG
6350
AATCTCTACT ATCCAAAATT ATTAGGAGAA AATTGAAAAT TTCCAACTCT
6400
GTCTCTCTCT TACCTCTGTG TAAGGCAAAT ACCTTATTCT TGTGGTGTTT
6450
TTGTAACCTC TTCAAACTTT CATTGATTGA ATGCCTGTTC TGGCAATACA
6500
TTAGGTTGGG CACATAAGGA ATACCAACAT AAATAAAACA TTCTAAAAGA
6550
AGTTTACGAT CTAATAAAGG AGACAGGTAC ATAGCAAACT AATTCAAAGG
6600
AGCTAGAAGA TGGAGAAAAT GCTGAATGTG GACTAAGTCA TTCAACAAAG
6650
TTTTCAGGAA GCACAAAGAG GAGGGGCTCC CCTCACAGAT ATCTGGATTA
6700
GAGGCTGGCT GAGCT
G
ATGG TGGCTGGTGT TCTCTGTTGC AG
A
A
G
T
C
A
A
G
6750 |
var(6716):[A:0.04]
| Exon 2 |
UTR
A
T
G
G
C
C
A
A
A
G
T
T
C
C
A
G
A
C
A
T
G
T
T
T
G
A
A
G
A
C
C
T
G
A
A
G
A
A
C
T
G
T
T
A
C
A
G
GTA
6800
M A K V P D M F E D L K N C Y S 16
AGGAATAAGA TTTATCTCTT GTGATTTAAT GAGGGTTTCA AGGCTCACCA
6850
GAATCCAGCT AGGCATAACA GTGGCCAGCA TGGGGGCAGG CCGGCAGAGG
6900
TTGTAGAGAT GTGTACTAGT CCTGAAGTCA GAGCAGGTTC AGAGAAGACC
6950
CAGAAAAACT AAGCATTCAG CATGTTAAAC TGAGATTACA TTGGCAGGGA
7000
GACCGCCATT TTAGAAAAAT TATTTTTGAG GTCTGCTGAG CCCTACATGA
7050
ATATCAGCAT CAACTTAGAC ACAGCCTCTG TTGAGATCAC ATGCCCTGAT
7100
ATAAGAATGG GTTTTACTGG TCCATTCTCA GGAAAACTTG ATCTCATTCA
7150
GGAACAGGAA ATGGCTCCAC AGCAAGCTGG GCATGTGAAC TCACATATGC
7200
AGGCAAATCT CACTCAGATG TAGAAGAAAG GTAAATGAAC ACAAAGATAA
7250
AATTACGGAA CATATTAAAC TAACATGATG TTTCCATTAT CTGTAGTAAA
7300
TACTAACACA AACTAGGCTG TCAAAATTTT GCCTGGATAT TTTACTAAGT
7350
ATAAATTATG AAATCTGTTT TAGTGAATAC ATGAAAGTAA TGTGTAACAT
7400
ATAATCTATT TGGTTAAAAT AAAAAGGAAG TGCTTCAAAA CCTTTCTTTT
7450
CTCTAAAGGA GCTTAACATT CTTCCCTGAA CTTCAATTAA AGCTCTTCAA
7500
TTTGTTAGCC AAGTCCAATT TTTACAGATA AAGCACAGGT AAAGCTCAAA
7550
GCCTGTCTTG ATGACTACTA ATTCCAGATT AGTAAGATAT GAATTACTCT
7600
ACCTATGTGT ATGTGTAGAA GTCCTTAAAT TTCAAAGATG ACAGTAATGG
7650
CCATGTGTAT GTGTGTGACC CACAACTATC ATGG
T
CATTA AAGTACATTG
7700 |
var(7685):[C:0.01]
GCCAGAGACC ACACTGAAAT AACAACAATT ACATTCTCAT CATCTTATTT
7750
TGACAG
T
G
A
A
A
A
T
G
A
A
G
A
A
G
A
C
A
G
T
T
C
C
T
C
C
A
T
T
G
A
T
C
A
T
C
T
G
T
C
T
C
T
G
A
7800 | Exon 3
E N E E D S S S I D H L S L 30
A
T
C
A
G
GTAAG CAAATGACTG TAATTCTCAT GGGACTGCTA TTCTTACACA
7850
N Q 32
GTGGTTTCTT CATCCAAAGA GAACAGCAAT GACTTGAATC TT
A
AATACTT
7900 |
var(7893):[C:0.19]
TTGTTTTACC CTCACTAGAG
G
TCCAGAGAC CTGTCTTTCA TTATAAGTGA
7950 |
var(7921):[A:0.36]
GAC
C
AGCTGC CTCTCTAAAC TAATAGTTGA TGTGCATTGG CTTCTCCCAG
8000 |
var(7954):[T:0.03]
AACAGAGCAG AAC
T
ATCCCA AATCCCTGAG AACTGGAGTC TCCTGGGGCA
8050 |
var(8014):[C:0.19]
GGCTTCATCA GGATGTTAGT TATGCCATCC TGAGAAAGGC CCCGCAGGCC
8100
GCTTCACCAG GTGTCTGTCT CCTAA
C
GTGA TGTGTTGTGG TTGTCTTCTC
8150 |
var(8126):[T:0.43]
TGACACCAGC ATCAGAGGTT AGAGAAAGTC TCCAAACATG AAGCTGAGAG
8200
AGAGGAAGCA AGCCAGTTGA AAGT
G
AGAAG TCTACAGCCA CTCATCAATC
8250 |
var(8225):[A:0.03]
TGTGTTATTG TGTTTGGAGA CCACAAATAG ACACTATAAG TACTGCCTAG
8300
TATGTCTTCA GT
A
C
T
G
G
C
T
T
T
A
A
A
A
G
C
T
G
T
C
C
C
C
A
A
A
G
G
A
G
T
A
T
T
T
C
T
A
A
8350 |
REPEAT
A
A
T
A
T
T
T
T
G
A
G
C
A
T
T
G
TTAA GCAGATTTTT AACCTCCT
G
A GAGGGAACTA
8400 |
var(8389):[A:0.01]
ATTGGAAAGC TACCACTCAC TACAATCATT GTTAACCTAT TTAGTTACAA
8450
CATCTCATTT TTGAGCATGC AAATAAATGA AAAAGTCTTC CTAAAAAAAT
8500
CATCTTTTTA TCCTGGAAGG AGGAAGGAAG GTGAGACAAA AGGGAGAGAG
8550
GGAGGGAAGC CTAATGAAAC ACCAGTTACC TAAGACCAGA ATGGAGATCC
8600
TCCTCACTAC CTCTGTTGAA TACAGCACCT ACTGAAAGAA CTTTCATTCC
8650
CTGACCATGA ACAGCCTCTC AGCTTCTGTT TTCCTTCCTC ACAG
A
A
A
T
C
C
8700 | Exon 4
K S 34
T
T
C
T
A
T
C
A
T
G
T
A
A
G
C
T
A
T
G
G
C
C
C
A
C
T
C
C
A
T
G
A
A
G
G
C
T
G
C
A
T
G
G
A
T
C
A
A
T
C
8750
F Y H V S Y G P L H E G C M D Q S 51
T
G
T
G
T
C
T
C
T
G
A
G
T
A
T
C
T
C
T
G
A
A
A
C
C
T
C
T
A
A
A
A
C
A
T
C
C
A
A
G
C
T
T
A
C
C
T
T
C
A
8800
V S L S I S E T S K T S K L T F 67
A
G
G
A
G
A
G
C
A
T
G
G
T
G
G
T
A
G
T
A
G
C
A
A
C
C
A
A
C
G
G
G
A
A
G
G
T
T
C
T
G
A
A
G
A
A
G
A
G
A
8850
K E S M V V V A T N G K V L K K R 84
C
G
G
T
T
G
A
G
T
T
T
A
A
G
C
C
A
A
T
C
C
A
T
C
A
C
T
G
A
T
G
A
T
G
A
C
C
T
G
G
A
G
G
C
C
A
T
C
G
C
8900 |
var(8852):[A:0.01]
R L S L S Q S I T D D D L E A I A 101
C
A
A
T
G
A
C
T
C
A
G
A
G
G
A
A
G
GTA AGGGGTCAAG CACAATAATA TCTTTCTTTT
8950
N D S E E 106
ACAGTTTTAA GCAAGTAGGG ACAGTAGAAT TTAGGGGAAA ATTAAACGTG
9000
GAGTCAGAAT AACAAGAAGA CAACCAAGCA TTAGTCTGGT AACTATACAG
9050
AGGAAAATTA ATTTTTATCC TTCTCCAGGA GGGAGAAATG AGCAGTGGCC
9100
TGAATCGAGA ATACTTGCTC ACAGCCATTA TTTCTTAGCC ATATTGTAAA
9150
GGTCGTGTGA CTTTTAGCCT TTCAGGAGAA AGCAGTAATA AGACCACTTA
9200
CGAGCTATGT TCCTCTCA
T
A
C
T
A
A
C
T
A
T
G
C
C
T
C
C
T
T
G
G
T
C
A
T
G
T
T
A
C
A
T
A
9250 |
REPEAT
A
T
C
T
T
T
T
C
G
T
G
A
T
T
C
A
G
T
T
T
C
C
T
C
T
A
C
T
G
T
A
A
A
A
T
G
G
A
G
A
T
A
A
T
C
A
G
A
A
T
9300 |
var(9289):[A:0.01]
C
C
C
C
C
A
C
T
C
A
T
T
G
G
A
T
T
G
T
T
G
T
A
A
AGATTA AGAGTCTCAG GCTTTACAGA
9350 |
var(9316):[C:0.18]
|
var(9319):[C:0.19]
CTGAGCTAGC TGGGC
C
C
T
C
C
T
G
A
C
T
G
T
T
A
T
A
A
A
G
A
T
T
A
A
A
T
G
A
G
T
C
A
A
C
A
9400 |
REPEAT
T
C
C
C
C
T
A
A
C
T
T
C
T
G
G
A
C
T
A
G
A
A
T
A
A
T
G
T
C
T
G
G
T
A
C
A
A
A
G
T
A
A
G
C
A
C
C
C
A
A
9450 |
var(9432):[A:0.01]
T
A
A
A
T
G
T
T
A
G
C
T
A
T
T
A
C
T
A
T
C
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
T
T
T
9500 |
REPEAT
T
G
A
G
A
T
G
G
A
G
T
C
T
G
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
9550 |
var(9545):[A:0.24]
|
var(9548):[G:0.01]
T
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
T
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
9600 |
var(9593):[A:0.01]
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
A
T
A
C
A
G
G
C
A
C
C
C
G
C
C
A
C
T
G
T
T
C
C
C
G
G
C
T
A
A
9650 |
var(9608):[T:0.20]
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
A
G
T
T
T
C
A
C
C
G
T
G
G
T
C
T
C
C
A
T
C
T
C
C
T
9700
C
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
C
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
9750
C
C
A
C
C
G
C
G
C
C
C
G
G
C
C
TAT
G
A
T
TATTATTAT TATTACTACT ACTACTACCT
9800 |
var(9769):[:0.80]
ATATGAATAC TACCAGCAAT ACTAATTTAT TAATGACTGG ATTATGTCTA
9850
AACCTCACAA G
A
A
T
C
C
T
A
C
C
T
T
C
T
C
A
T
T
T
T
A
C
A
T
A
A
A
A
G
G
A
A
A
C
T
A
A
G
C
T
9900 |
REPEAT
C
A
T
T
G
A
G
A
T
A
G
G
T
A
A
A
C
T
G
C
C
C
A
A
T
G
G
C
A
T
A
C
A
T
C
T
G
T
A
A
G
T
G
G
G
A
G
A
G
C
9950 |
var(9903):[C:0.02]
C
T
C
A
A
A
T
C
T
A
A
T
T
C
A
G
T
T
C
T
A
C
C
T
G
A
GTAA AAAAATCATG GTTTCTCCTC
10000
CATCCCTTTA CTGTACAAGC CTCCACATGA ACTATAAACC CAATATTCCT
10050
GTTTTTAAGA TAATACCTAA GC
A
A
T
A
A
C
G
C
A
T
G
T
T
C
A
C
C
T
A
G
A
A
G
G
T
T
T
T
10100 |
REPEAT
A
A
A
A
T
G
T
A
A
C
A
A
A
A
T
A
T
A
A
G
A
A
A
A
T
A
A
A
A
A
T
C
A
C
T
C
A
T
A
T
C
G
T
C
A
G
T
G
A
G
10150
A
G
T
T
T
A
C
T
A
C
T
G
C
C
A
G
C
A
C
T
A
T
G
G
T
A
T
G
T
T
T
C
C
T
T
A
A
A
A
T
C
T
T
T
G
C
T
A
T
A
10200
C
A
C
A
T
A
C
C
T
A
C
A
T
G
T
G
A
A
C
A
A
A
T
A
T
G
T
C
T
A
A
C
A
T
C
A
A
G
A
C
C
A
C
A
C
T
A
T
T
T
10250
A
C
A
A
C
T
T
T
A
T
A
T
C
C
A
G
C
T
T
T
T
C
T
T
A
C
T
T
A
G
C
A
A
T
G
T
A
T
T
G
A
G
G
A
C
A
T
T
T
T
10300
A
G
A
G
T
G
C
C
C
G
T
T
T
T
T
C
A
C
C
A
T
T
A
T
A
A
G
C
A
A
T
G
C
A
A
C
A
A
T
G
A
A
C
A
T
C
T
G
T
A
10350
T
A
A
A
T
A
A
A
T
A
T
T
C
A
T
T
T
C
T
C
T
C
A
C
C
C
T
T
T
A
T
T
T
C
C
T
T
A
G
A
A
T
A
T
A
T
T
C
C
T
10400
A
G
A
A
G
T
A
G
A
A
T
T
T
C
C
C
A
G
A
G
C
C
A
T
G
A
G
G
A
T
T
T
G
T
G
A
C
G
C
T
A
T
T
G
A
T
A
T
G
T
10450
G
C
C
A
C
T
T
T
G
C
ACTCTCTGTG ACATATATAA TTATTTTTAA TGCATTCATT
10500
TTTTTCTCAG AGTGCATT
C
G
TTTGAAAACA TAGACGGGAA ATACTGGTAG
10550 |
var(10519):[T:0.01]
|
var(10520):[A:0.16]
TCTTCCTTGT CAGTTAGAAA CACCCAAACA ATGAAAAATG AAAAAGTTGC
10600
ACAAATAGTC TCTAAAAACA ATGAAACTAT TGCCTGAGGA ATTGAAGTTT
10650
AAAAAGAAGC ACATAAGCAA CAACAAGGAT AATCCTAGAA AACCAGTTCT
10700
GCTGACTGGG TGATTTCACT TCTCTTTGCT TCCTCATCTG GATTGG
A
ATA
10750 |
var(10747):[C:0.33]
TTCCTAATA
T
CCCCTCCAGA ACTATTTTCC CTGTTTGTAC TAGACTGTGT
10800 |
var(10760):[C:0.20]
ATATCATCTG TGTTTGTACA TAGACATTAA TCTGCACTTG TGATCATGGT
10850
TTTAG
A
A
A
T
C
A
T
C
A
A
G
C
C
T
A
G
G
T
C
A
G
C
A
C
C
T
T
T
T
A
G
C
T
T
C
C
T
G
A
G
C
A
A
T
G
10900 | Exon 5 |
var(10876):[T:0.26]
E I I K P R S A P F S F L S N 121
T
G
A
A
A
T
A
C
A
A
C
T
T
T
A
T
G
A
G
G
A
T
C
A
T
C
A
A
A
T
A
C
G
A
A
T
T
C
A
T
C
C
T
G
A
A
T
G
A
C
10950 |
var(10948):[A:0.01]
V K Y N F M R I I K Y E F I L N D 138
G
C
C
C
T
C
A
A
T
C
A
A
A
G
T
A
T
A
A
T
T
C
G
A
G
C
C
A
A
T
G
A
T
C
A
G
T
A
C
C
T
C
A
C
G
G
C
T
G
C
11000
A L N Q S I I R A N D Q Y L T A A 155
T
G
C
A
T
T
A
C
A
T
A
A
T
C
T
G
G
A
T
G
A
A
G
C
A
G
GTAC ATTAAAATGG CACCAGACAT
11050
A L H N L D E A 163
TTCTGTCATC CTCCCCTCCT TTCATTTACT TATTTATTTA TTTCAATCTT
11100
TCTGCTTGCA AAAAACATAC CTCTTCAGAG TTCTGGGTTG CACAATTCTT
11150
CCAGAATAGC TTGAAGCACA GCACCCCCAT AAAAATCCCA AGCCAGGGCA
11200
GAAGGTTCAA CTAAATCTGG AAGTTCCACA AGAGAGAAGT TTCCTATCTT
11250
TGAGAGTAAA GGGTTGTGCA
C
AAAGCTAGC TGATGTACTA CCTCTTTGGT
11300 |
var(11271):[:0.01]
TCTTTCAGAC ATTCTTA
C
C
C
T
C
A
A
T
T
T
T
A
A
A
A
C
T
G
A
G
G
A
A
A
C
T
G
T
C
A
G
A
C
11350 |
REPEAT
|
var(11323):[G:0.01]
A
T
A
T
T
A
A
A
T
G
A
T
T
T
A
C
T
C
A
G
A
T
T
T
A
C
C
C
A
G
AAGCCAATGA AGAACAATCA
11400
CTCTCCTTTA AAAAGTCTGT TGATCAAACT CACAAGTAAC ACCAAAC
C
AG
11450 |
var(11448):[T:0.20]
GAAGATCTTT ATTATCTCTG ATAACATATT TGTGAGGCAA AACCTCCAAT
11500
AAGCTACAAA TATGGCTTAA AGGATGAAGT TTAGTGTCCA AAAACTTTTA
11550
TCACACACAT CCAATTTTCA TGGCGGAC
C
A TGTTTTAGTT TCAACAGTAT
11600 |
var(11579):[:0.99]
ACATATTTTC AAAGGTCCAG AGAGGCAATT TTGCAATAAA CAAGCAAGAC
11650
TTTTTCTGAT TGGATGCACT TCAGCTAACA TGCTTTCAAC TCTACATTTA
11700
CAAATTATTT TGTGTTCTAT TTTTCTACTT AATATTATTT CTGCAATTTT
11750
CCCAATATTG ACATCGTGTA TGTATTTGCC ATTTTTAATA TCACTAGACA
11800
ATTCAATCAG GTTGCTACGT TGGTCCCTTG GGTTTACTCT AAATAGCTTG
11850
ATTGCA
A
A
T
A
T
C
T
T
T
G
T
A
T
A
T
A
T
T
A
T
T
G
T
T
T
T
T
T
C
T
C
C
T
A
T
C
T
T
G
T
A
A
T
T
11900 |
REPEAT
T
C
T
T
T
G
A
G
C
A
C
A
T
C
C
C
A
A
A
G
A
G
G
A
A
T
G
C
C
T
A
G
A
T
C
A
A
T
G
G
G
C
A
C
A
A
A
T
A
A
11950
T
T
T
G
A
C
A
G
C
T
C
T
T
A
T
T
A
A
A
C
A
T
T
A
T
T
C
T
G
T
A
A
G
T
A
A
A
A
A
C
T
G
A
A
C
T
A
C
T
T
12000
T
T
C
A
G
T
A
T
C
A
C
T
A
G
C
A
A
C
A
T
A
T
G
A
G
T
G
T
A
T
C
A
G
C
T
T
C
CTA AACCCCTCCA
12050
TGTTAGGTCA TTATGAACTT ATGATCTAAC AAATTACAGG
G
TCTTATCCC
12100 |
var(12091):[A:0.01]
ACTAATGAAA TTATAAGAGA TTCAACACTT ATTCAGCCCC GAAGGATTCA
12150
TTCAACGTAG AAAATTCTAA GAACATTAAC CAAGTATTTA CCTGCCTAGT
12200
GAGTGTGGAA GACATTGTGA AGGACACAAA GATGTATAGA ATTCCATTCC
12250
TGACTTCCAG GTATTTACAC CATAGGTGGG GACCTAACTA CACACACACA
12300
CACACACACA CACACACACA CACACACACC ATGCACACAC AATCTACATC
12350
AACACTTGAT TTTATACAAA TACAATGAAT TTACTTTCTT TTTGGTTCTT
12400
CTCTTCACCA G
T
G
A
A
A
T
T
T
G
A
C
A
T
G
G
G
T
G
C
T
T
A
T
A
A
G
T
C
A
T
C
A
A
A
G
G
A
T
G
12450 | Exon 6
V K F D M G A Y K S S K D 176
A
T
G
C
T
A
A
A
A
T
T
A
C
C
G
T
G
A
T
T
C
T
A
A
G
A
A
T
C
T
C
A
A
A
A
A
C
T
C
A
A
T
T
G
T
A
T
G
T
G
12500
D A K I T V I L R I S K T Q L Y V 193
A
C
T
G
C
C
C
A
A
G
A
T
G
A
A
G
A
C
C
A
A
C
C
A
G
T
G
C
T
G
C
T
G
A
A
G
GTCA GTTGTCCTTT
12550
T A Q D E D Q P V L L K 205
GTCTCCAACT TACCTTCATT TACATCTCAT ATGTTTGTAA ATAAGCCCAA
12600
TAGGCAGACA CCTCTAACAA GGTGACACTG TCCTCTTTCC TTCCTACCAC
12650
AGCCCCCACC T
G
CCCACCCC ACTCCCATTG ATTCCA
G
AGG CGTGCCTAGG
12700 |
var(12662):[A:0.25]
|
var(12687):[C:0.01]
CAGG
A
TCTAT GAGAAAATAT AACAGAGAGT AAGAGGAAAA TTACCTTCTT
12750 |
var(12705):[C:0.18]
TCTTTTTCCT TTCCCTGCCT GACCTTATTC ACCTCCCATC CCAGAGCATC
12800
CATTTATTCC ATTGATCTTT ACTGACATCT ATTATCTGAC CTACACAATA
12850
CTAGACATTA GGACAATGTG GCCTGCCTCC AAGAAACT
C
A
A
A
T
A
A
G
C
C
A
A
12900 |
REPEAT
C
T
G
A
G
A
T
C
A
G
A
G
A
G
G
A
T
T
A
A
T
C
A
C
C
T
G
C
C
A
A
T
G
G
G
C
A
C
A
A
A
G
C
A
A
C
A
A
G
C
12950
T
G
G
G
A
G
C
C
A
A
G
T
C
C
C
A
A
A
A
T
G
G
G
G
C
C
T
G
C
T
G
C
T
T
C
C
A
G
T
T
C
C
C
C
T
C
T
C
T
C
13000
T
G
C
ATTGATG TCAGCATTAT CCTTCGTCCC AGTCCTGTCT CCACTACCAC
13050
TTTCCCCCTC AAACACACAC ACACACAACA GCCTTAGATG TTTTCTCCAC
13100
TGATAAGTAG GTGACTCAAT TTGTAAGTAT ATAATCCAAG ACCTTCTATT
13150
CCCAAGTAGA ATTTATGTGC CTGCCTGTGC TTTTCTACCT GGATCAAGTG
13200
ATGTCTACAG AGTAGGGCAG TAGCTTC
A
T
T
C
A
T
G
A
A
C
T
C
A
T
T
C
A
A
C
A
A
G
C
13250 |
REPEAT
A
T
T
A
T
T
C
A
C
T
G
A
G
A
G
C
C
T
T
G
T
A
T
T
T
T
T
C
A
G
G
C
A
T
A
G
T
G
C
C
A
A
C
A
G
C
A
G
T
G
13300 |
var(13270):[C:0.10]
T
G
G
A
C
A
G
T
G
G
T
G
C
A
T
C
A
A
A
G
C
C
T
C
T
A
G
T
C
T
C
A
T
A
G
A
A
C
T
T
A
G
T
C
T
T
C
T
G
G
13350 |
NOT SCANNED
A
G
G
A
T
A
T
G
G
A
A
A
A
C
A
G
A
C
A
A
C
C
C
A
A
A
C
A
A
C
C
A
A
C
A
A
A
A
G
A
G
C
A
A
G
A
T
G
C
T
13400
G
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
G
A
A
T
A
G
G
G
T
G
C
T
A
A
G
A
T
A
G
A
G
A
A
A
A
G
T
G
G
G
A
G
13450
A
G
T
G
C
T
A
T
T
T
A
G
A
C
A
A
A
G
T
G
G
T
A
A
A
A
A
C
A
A
A
G
C
C
C
C
T
T
G
T
G
A
G
A
T
G
A
G
A
G
13500
C
T
G
C
C
G
A
C
A
G
G
A
G
G
G
G
G
C
G
G
G
T
C
A
T
G
G
T
T
G
T
G
G
G
T
T
T
T
T
G
G
G
T
A
G
G
A
C
A
T
13550
T
C
A
G
A
G
G
A
G
G
G
G
G
CGGGTCG TGGTTGTGGG TTTTTGGGTA GGACATTCAG
13600
AGGAGGGGGC GGGTCGTGGT TGTGGGTTTT TGGGTAGGAC ATTCAGAGGA
13650
GGGGGCGGGT CGTGGTTGTG GGTTTTTGGG TAGGACATTC AGAGGAGGGG
13700
GCGGGTCGTG GTTGTGGGTT TTTGGGTAGG ACATTCAGAG GAGGGGGCGG
13750
GTCGTGGTTG TGGGTTTTTG GGTAGGACAT TCAGAGGAGG GGGCGGGTCG
13800
TGGTTGTGGG TTTTTGGGTA GGACATTCAG AGGAGGGGGC GGGTCGTGGT
13850
TGT
G
G
G
T
T
T
T
T
G
G
G
T
A
G
G
A
C
A
T
T
C
A
G
A
G
G
A
G
G
G
G
G
C
G
G
G
T
C
G
T
G
G
T
T
G
T
G
13900 |
NOT SCANNED
G
G
T
T
T
T
T
G
G
G
T
A
G
G
A
C
A
T
T
C
A
G
A
G
G
A
G
G
G
G
G
C
G
G
G
T
C
G
T
G
G
T
T
G
T
G
G
G
T
T
13950
T
T
T
G
G
G
T
A
G
G
A
C
A
T
T
C
A
G
A
G
G
A
G
G
G
G
G
C
G
G
G
T
C
G
T
G
G
T
T
G
T
G
G
G
T
T
T
T
T
G
14000
G
G
T
A
G
G
A
C
A
T
T
C
A
G
A
G
G
A
G
G
G
G
G
C
G
G
G
T
C
G
T
G
G
T
T
G
T
G
G
G
T
T
T
T
T
G
G
G
T
A
14050
G
G
A
C
A
T
T
C
A
G
A
G
G
A
G
G
G
G
G
C
G
G
G
T
C
A
T
G
G
T
T
G
T
G
G
G
T
T
T
T
T
G
G
G
A
C
A
T
T
C
14100
A
G
A
G
G
A
G
T
C
T
G
A
A
T
G
C
A
C
C
C
A
G
G
C
C
T
A
C
A
A
C
T
T
C
A
A
G
A
T
G
G
T
A
A
A
G
G
A
C
A
14150
G
C
T
C
C
A
A
G
G
A
T
C
A
G
A
A
G
A
A
G
C
A
T
T
C
T
T
G
G
A
A
C
T
G
G
G
G
C
A
T
T
T
T
G
A
G
A
A
G
G
14200
A
G
G
A
A
A
A
A
T
A
T
G
C
A
G
A
G
A
C
T
A
G
T
G
C
T
T
G
C
A
G
A
G
C
T
T
G
C
A
T
T
T
G
G
A
T
T
T
C
A
14250 |
REPEAT
T
T
T
G
A
G
G
T
A
C
A
A
T
G
A
A
A
A
C
C
C
A
T
T
A
A
T
G
G
G
T
T
T
C
A
C
A
C
A
G
T
G
C
A
A
T
G
G
C
C
14300
T
G
A
C
C
T
C
A
C
T
T
A
T
A
T
T
T
C
C
T
A
A
A
A
T
A
G
A
A
A
A
C
A
G
A
T
C
A
G
A
A
G
G
A
A
G
G
C
A
A
14350
T
A
G
A
G
A
A
G
C
A
G
A
A
A
G
T
C
C
A
A
T
G
A
G
G
A
G
G
T
T
T
C
A
C
A
G
C
A
G
T
C
A
T
G
G
G
G
G
T
G
14400
G
G
G
T
A
A
G
G
A
A
A
A
G
A
A
G
T
G
G
A
A
A
G
A
A
A
C
A
G
A
C
A
G
A
A
T
T
G
G
G
T
T
A
T
A
T
T
T
T
G
14450 |
var(14416):[A:0.03]
G
A
G
A
T
A
G
A
A
C
C
A
A
C
A
G
A
A
GG AAGAGGAGAA ACAACATTTA CTGAGAAGGG
14500
AAAAAGTAGG AGAGGAATAG GTTTGGGAAA TAAATCCTGC TGACATTGGA
14550
AACCCCAAGG AAGCCTCAAA AGTATATTTA CTTGCTTTAG ATTTAAAAGA
14600
ATAGGAAAGA AGCATCTCAA CTTGGAATTT GAAATCTATT TTTCCATAAA
14650
AGTATTGTTA AATTCTACTC ATACTCACAA GAAAAGTACA TTCTAAAGAG
14700
TATATTGAAA GAGTTTACTG ATATACTTAG GAATTTTGTG TGTATGTGTG
14750
TGTGTGTATG
T
GTGTG
T
GTG TGTTTAACCT TCAATTGTTG ACTTAAATAC
14800 |
var(14761):[C:0.47]
|
var(14767):[C:0.06]
TGAGATAAAT GTCATCTAAA TGCTAAATTG ATTTCC
C
AAA GGTATGATTT
14850 |
var(14837):[:0.17]
GTTCACTTGG AGATCAAAAT GTTTAGGGGG CTTAGAATCA CTGTAGTGCT
14900
CAGATTTGAT GCAAAATGTC TTAGGCCTAT GTTGAAGGCA GGACAGAAAC
14950
AATGTTTCCC TCCTACCTGC CTGGATACAG TAAGATACTA GTGTCACTGA
15000
CAATCTTCAT AACTAATTTA GATCTCTCTC CAATCAACTA AGGAAATCAA
15050
CTCTTATTAA TAGACTGGGC CACACATCTA CTAGGCATGT AATAAATGCT
15100
TGCTGAATGA ACAAATGAAT GAAGAGCCTA TAGCATCATG TTACAGCCAT
15150
AGTCCTAAAG TGCTGTTTCT CATGAAGGCC AAATGCTAAG GGATTGAGCT
15200
TCAGTCCTTT TTCTA
A
CATC TTGTTCTCTA ACAGAATTCT CTTCTTTTCT
15250 |
var(15216):[C:0.19]
TCATAG
G
A
G
A
T
G
C
C
T
G
A
G
A
T
A
C
C
C
A
A
A
A
C
C
A
T
C
A
C
A
G
G
T
A
G
T
G
A
G
A
C
C
A
A
15300 | Exon 7
E M P E I P K T I T G S E T N 220
C
C
T
C
C
T
C
T
T
C
T
T
C
T
G
G
G
A
A
A
C
T
C
A
C
G
G
C
A
C
T
A
A
G
A
A
C
T
A
T
T
T
C
A
C
A
T
C
A
G
15350
L L F F W E T H G T K N Y F T S 236
T
T
G
C
C
C
A
T
C
C
A
A
A
C
T
T
G
T
T
T
A
T
T
G
C
C
A
C
A
A
A
G
C
A
A
G
A
C
T
A
C
T
G
G
G
T
G
T
G
C
15400
V A H P N L F I A T K Q D Y W V C 253
T
T
G
G
C
A
G
G
G
G
G
G
C
C
A
C
C
C
T
C
T
A
T
C
A
C
T
G
A
C
T
T
T
C
A
G
A
T
A
C
T
G
G
A
A
A
A
C
C
A
15450
L A G G P P S I T D F Q I L E N Q 270
G
G
C
G
T
A
G
G
T
C
T
G
G
A
G
T
C
T
C
A
C
T
T
G
T
C
T
C
A
C
T
T
G
T
G
C
A
G
T
G
T
T
G
A
C
A
G
T
T
C
15500 |
var(15454):[A:0.01]
|
UTR
A 271
A
T
A
T
G
T
A
C
C
A
T
G
T
A
C
A
T
G
A
A
G
A
A
G
C
T
A
A
A
T
C
C
T
T
T
A
C
T
G
T
T
A
G
T
C
A
T
T
T
G
15550
C
T
G
A
G
C
A
T
G
T
A
C
T
G
A
G
C
C
T
T
G
T
A
A
T
T
C
T
A
A
A
T
G
A
A
T
G
T
T
T
A
C
A
C
T
C
T
T
T
G
15600
T
A
A
G
A
G
T
G
G
A
A
C
C
A
A
C
A
C
T
A
A
C
A
T
A
T
A
A
T
G
T
T
G
T
T
A
T
T
T
A
A
A
G
A
A
C
A
C
C
C
15650
T
A
T
A
T
T
T
T
G
C
A
T
A
G
T
A
C
C
A
A
T
C
A
T
T
T
T
A
A
T
T
A
T
T
A
T
T
C
T
T
C
A
T
A
A
C
A
A
T
T
15700
T
T
A
G
G
A
G
G
A
C
C
A
G
A
G
C
T
A
C
T
G
A
C
T
A
T
G
G
C
T
A
C
C
A
A
A
A
A
G
A
C
T
C
T
A
C
C
C
A
T
15750 |
REPEAT
A
T
T
A
C
A
G
A
T
G
G
G
C
A
A
A
T
T
A
A
G
G
C
A
T
A
A
G
A
A
A
A
C
T
A
A
G
A
A
A
T
A
T
G
C
A
C
A
A
T
15800
A
G
C
A
G
T
T
G
A
A
A
C
A
A
G
A
A
G
C
C
A
C
A
G
A
C
C
T
A
G
G
A
T
T
T
C
A
T
G
A
T
T
T
C
A
T
T
T
C
A
15850 |
REPEAT
A
C
T
G
T
T
T
G
C
C
T
T
C
T
A
C
T
T
T
T
A
A
G
T
T
G
C
T
G
A
T
G
A
A
C
T
C
T
T
A
A
T
C
A
A
A
T
A
G
C
15900 |
var(15865):[G:0.36]
A
T
A
A
G
T
T
T
C
T
G
G
G
A
C
C
T
C
A
G
T
T
T
T
A
T
C
A
T
T
T
T
C
A
A
A
A
T
G
G
A
G
G
G
A
A
T
A
A
T
15950
A
C
C
T
A
A
G
C
C
T
T
C
C
T
G
C
C
G
C
A
A
C
A
G
T
T
T
T
T
T
A
T
G
C
T
A
A
T
C
A
G
G
G
A
G
G
T
C
A
T
16000
T
T
T
G
G
T
A
A
A
A
T
A
C
T
T
C
T
T
G
A
A
G
C
C
G
A
G
C
C
T
C
A
A
G
A
T
G
A
A
G
G
C
A
A
A
G
C
A
C
G
16050 |
var(16018):[C:0.25]
A
A
A
T
G
T
T
A
T
T
T
T
T
T
A
A
T
T
A
T
T
A
T
T
T
A
T
A
T
A
T
G
T
A
T
T
T
A
T
A
A
A
T
A
T
A
T
T
T
A
16100
A
G
A
T
A
A
T
T
A
T
A
A
T
A
T
A
C
T
A
T
A
T
T
T
A
T
G
G
G
A
A
C
C
C
C
T
T
C
A
T
C
C
T
C
T
G
A
G
T
G
16150 |
var(16146):[A:0.01]
T
G
A
C
C
A
G
G
C
A
T
C
C
T
C
C
A
C
A
A
T
A
G
C
A
G
A
C
A
G
T
G
T
T
T
T
C
T
G
G
G
A
T
A
A
G
T
A
A
G
16200
T
T
T
G
A
T
T
T
C
A
T
T
A
A
T
A
C
A
G
G
G
C
A
T
T
T
T
G
G
T
C
C
A
A
G
T
T
G
T
G
C
T
T
A
T
C
C
C
A
T
16250
A
G
C
C
A
G
G
A
A
A
C
T
C
T
G
C
A
T
T
C
T
A
G
T
A
C
T
T
G
G
G
A
G
A
C
C
T
G
T
A
A
T
C
A
T
A
T
A
A
T
16300
A
A
A
T
G
T
A
C
A
T
T
A
A
T
T
A
C
C
T
T
G
A
G
C
C
A
G
T
A
A
T
T
G
G
T
C
C
G
A
T
C
T
T
T
G
A
C
T
C
T
16350
T
T
T
G
C
C
A
T
T
A
A
A
C
T
T
A
C
C
T
G
G
G
C
A
T
T
C
T
T
G
T
T
T
C
A
T
T
C
A
A
T
T
C
C
A
C
C
T
G
C
16400 |
var(16376):[A:0.14]
|
var(16386):[:0.23]
A
A
T
C
A
A
G
T
C
C
T
A
C
A
A
G
C
T
A
A
A
A
T
T
A
G
A
T
G
A
A
C
T
C
A
A
C
T
T
T
G
A
C
A
A
C
C
A
T
G
16450
A
G
A
C
C
A
C
T
G
T
T
A
T
C
A
A
A
A
C
T
T
T
C
T
T
T
T
C
T
G
G
A
A
T
G
T
A
A
T
C
A
A
T
G
T
T
T
C
T
T
16500
C
T
A
G
G
T
T
C
T
A
A
A
A
A
T
T
G
T
G
A
T
C
A
G
A
C
C
A
T
A
A
T
G
T
T
A
C
A
T
T
A
T
T
A
T
C
A
A
C
A
16550
A
T
A
G
T
G
A
T
T
G
A
T
A
G
A
G
T
G
T
T
A
T
C
A
G
T
C
A
T
A
A
C
T
A
A
A
T
A
A
A
G
C
T
T
G
C
A
A
C
A
16600 |
var(16591):[A:0.03]
A
A
A
T
T
C
T
C
T
G
ACACA
T
A
G
T
T ATTCATTGCC TTAATCATTA TTTTACTGCA
16650 |
var(16616):[:0.01]
TGGTAATTAG GGACAAATGG TAAATGTTTA CATAAATAAT TGTATTTAGT
16700
GTTACTTTAT AAAATCAAAC CAAGATTTTA TATTTTTTTC TCCTCTTTGT
16750
TAGCTGCCAG TATGCATAAA TGGCATTAAG AATGATAATA TTTCCGGGTT
16800
CACTTAAAGC TCA
C
ATTACA CATACACAAA ACATGTGTTC CCATCTTTAT
16850 |
var(16814):[T:0.35]
ACAAACTCAC ACATACAGAG CTACATTAAA AACAACTAAT A
G
G
C
C
A
G
G
C
A
16900 |
REPEAT
C
G
G
T
G
G
C
T
C
A
G
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
T
G
G
G
A
A
G
16950
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
T
C
17000
T
C
A
T
C
T
C
T
A
C
A
A
A
A
A
A
A
A
A
T
G
A
A
A
A
A
T
T
A
A
A
A
A
A
T
G
A
G
C
T
G
G
A
C
A
T
G
G
T
A
17050 |
var(17012):[G:0.34]
G
T
A
C
A
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
A
17100 |
var(17081):[A:0.36]
C
T
T
G
A
G
C
C
T
G
G
G
A
G
A
T
G
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
T
A
A
T
C
A
C
A
C
C
A
T
T
G
C
A
17150
C
C
C
C
A
A
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
C
C
A
G
T
C
T
C
A
A
A
A
G
A
T
A
A
A
TTTTTA
17200
AAAATGTTAA AAAATATATA AAAGAGAATT TTAAAAGAAC AACTAATAGA
17250
TCAAAGCAT
G
G
A
T
G
C
A
A
G
A
T
A
T
A
T
T
T
A
G
T
T
G
G
A
A
A
A
T
C
A
A
G
G
T
T
A
A
A
A
T
C
17300 |
REPEAT
A
A
G
G
G
A
T
C
T
T
G
G
A
A
T
T
A
G
G
T
G
T
G
G
T
A
G
A
T
T
T
G
G
G
T
A
A
G
G
A
G
T
A
G
T
C
T
A
A
G
17350
A
T
G
A
C
C
C
T
G
T
T
T
C
T
T
G
G
T
A
C
T
G
G
A
G
A
C
T
G
G
A
T
G
A
G
T
G
G
C
A
G
C
G
T
C
T
T
A
A
C
17400 |
var(17393):[A:0.18]
C
A
T
A
T
T
T
T
T
G
G
T
A
G
A
A
A
T
A
T
G
G
A
G
G
T
C
T
T
C
T
C
C
A
T
T
C
C
A
G
G
A
T
G
A
A
T
G
A
T
17450
G
A
G
T
A
A
A
A
T
T
T
T
A
G
G
C
A
T
G
T
A
A
T
T
T
G
A
G
C
T
A
C
T
A
G
A
A
G
G
A
C
A
C
T
C
A
A
T
T
G
17500
C
A
G
A
T
G
T
A
C
A
A
T
G
G
G
G
A
G
A
T
G
A
T
A
A
C
C
T
A
T
C
T
G
G
A
A
C
T
C
A
G
A
A
A
A
A
T
A
A
C
17550
T
G
T
A
T
A
T
A
G
A
T
A
T
G
A
A
A
G
A
C
A
T
C
A
G
T
A
G
G
T
A
T
G
T
A
G
T
A
G
A
T
A
A
A
A
T
C
C
T
A
17600
A
A
A
G
T
G
A
T
G
T
C
A
A
A
G
G
G
A
G
A AGAGAAGTA
T
A
T
G
G
T
G
A
A
C
A
C
T
G
T
T
G
T
T
T
G
17650 |
REPEAT
T
C
C
A
T
G
C
A
A
T
T
G
C
C
A
T
C
T
C
T
T
C
T
T
C
T
T
C
C
T
T
A
C
T
G
A
C
A
G
A
A
C
C
C
T
G
A
T
T
T
17700
C
A
C
T
G
A
G
A
A
G
T
C
A
A
C
A
T
G
C
C
C
T
T
C
C
C
C
A
A
T
T
G
A
T
G
A
A
T
C
C
A
A
T
T
G
G
T
T
T
A
17750
A
G
A
T
T
A
T
G
T
T
C
A
T
T
C
T
A
T
T
C
T
T
A
C
A
T
G
A
C
T
A
A
G
T
C
A
C
G
T
T
G
A
C
T
T
A
A
T
C
C
17800
T
A
T
C
A
A
A
T
G
A
G
A
T
G
T
C
G
A
T
C
T
G
G
A
A
A
C
A
A
C
T
T
C
T
G
G
A
A
A
A
G
A
T
T
T
T
C
T
A
C
17850
C
T
T
G
A
T
A
A
A
A
T
A
A
A
G
A
G
C
C
A
T
A
T
A
G
A
T
G
G
T
C
C
T
T
T
A
T
C
T
T
C
C
T
T
C
T
T
C
C
T
17900
T
G
A
A
T
G
A
G
A
T
A
T
G
T
T
C
T
A
T
G
A
G
G
A
A
G
T
G
A
A
G
C
T
T
A
G
A
A
C
T
G
T
G
G
T
C
A
G
C
A
17950
A
C
T
T
G
C
A
A
C
G
A
C
T
G
G
G
A
A
G
T
C
A
G
A
G
C
C
A
C
A
C
A
A
T
G
A
A
G
A
A
T
G
C
A
G
A
G
T
G
G
18000
A
A
G
G
A
G
A
A
A
A
A
G
A
G
C
C
A
G
C
A
T
C
T
C
T
G
A
C
A
A
C
A
T
T
G
T
T
A
C
A
C
C
G
A
G
A
A
C
C
T
18050 |
var(18006):[A:0.23]
A
C
C
T
C
C
A
G
A
T
T
T
T
A
A
G
A
A
A
A
C
A
A
G
A
A
A
T
G
C
T
A
C
T
G
T
T
A
T
T
A
A
G
C
C
A
T
T
T
C
18100
A
C
T
G
G
G
T
T
T
G
C
T
A
T
G
A
C
T
T
G
C
A
G
T
C
A
A
A
T
C
T
A
G
C
T
T
A
A
C
T
G
A
T
A
C
A
GAGC
18150
ACCACAGAGA ACTGGTCTCT CATTTGTCTC ATCCTGTTCT TTCTAGCAGC
18200
CACGACTTTC CTAGGGTTTC CTTAGCCCAA GTCTGGCTAG AGCAAGACTA
18250
AGTAAGACTT GATTCCT
T
AA TGTCCTTTTG TTTTAAGAAA TATTAAAGAA
18300 |
var(18268):[C:0.32]
TTATTTTTAT
A
TTAATATAT TTTAAGAAAT AAGGAAATAC AAAACACTGA
18350 |
var(18311):[G:0.01]
GCAAGCAACA CAAATTCAAG AAATCTTAAA AAGTATAATA GCTGCTCAGT
18400
CTCTGATTAA CAGTGAAATA TGGAATCATT GTAGAAATGG CCTTGG