STAT1 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
T
G
G
T
G
G
G
A
G
G
T
G
A
T
T
A
A
A
T
T
A
T
G
G
G
G
G
C
G
A
G
A
C
T
T
T
C
C
T
G
C
G
C
T
G
T
T
T
T
T
50 |
REPEAT
G
T
G
A
T
A
G
T
G
A
A
T
G
A
G
T
C
T
C
G
A
G
G
A
T
C
C
G
A
T
C
A
T
T
T
T
A
A
A
A
A
T
G
G
G
A
G
T
T
T
100 |
var(69):[T:0.43]
C
C
C
T
G
C
A
C
A
A
G
C
T
C
T
T
T
G
C
C
T
G
C
C
G
C
C
A
T
C
A
A
T
G
A
A
A
G
A
T
G
T
G
A
C
T
T
G
T
T
150 |
var(124):[T:0.01]
|
var(125):[A:0.03]
C
C
T
C
C
T
T
G
C
C
T
C
C
C
G
C
C
A
T
G
A
T
T
G
T
G
A
G
G
C
C
T
C
C
C
C
A
G
C
C
A
T
G
T
G
G
A
A
C
T
200 |
var(161):[G:0.24]
G
T
A
A
G
T
C
C
A
T
T
A
A
A
C
C
T
C
T
T
T
A
T
T
T
T
G
T
A
A
A
T
T
G
C
C
C
A
G
T
C
T
C
A
G
G
T
C
T
T
250
T
A
T
T
A
G
C
A
G
C
G
T
T
A
A
A
A
A
T
G
G
A
T
T
A
A
T
A
C
A
GCTTTTTTCA GAGAACAGTA
300
AAACATTGTC TTGGTTCTTG GGTGAGTAAG AGCAGAAGGG ACACTTTTGG
350
TGCC
G
TGGCA TCTCTTGGCA GAGAAGTCTA ATTTCACTGC TAACTTGCTT
400 |
var(355):[A:0.03]
TGTGAGGGTG CATTTGTGAC AAGAA
G
AACA AATAGATGTG CAAAGAAAAA
450 |
var(426):[C:0.19]
AAACTCA
T
AC ACACACATAT AGGCATATCC ATGGGAAATT ATTCAGATCC
500 |
var(458):[C:0.44]
TTCTCCTACC CCAAAGTGCC TAATTATTCA AGGCTTGACT CAAATCCCGT
550
CTACTTGAAG GAACTAATTG ATTTTATGAG CATATAGTCC AAAAAGATTT
600
AGTTTGTCTG GCTTCAGC
A
A
T
G
C
C
T
A
C
C
T
G
G
A
G
A
A
G
T
G
A
C
A
T
T
T
A
A
G
C
T
G
650 |
REPEAT
A
G
A
T
T
T
T
T
A
A
A
C
T
A
A
G
A
T
C
T
A
A
A
A
G
A
T
G
A
G
T
T
A
G
C
C
A
G
C
G
A
A
G
A
G
T
T
G
G
G
700
T
G
A
A
G
C
A
G
A
T
G
T
T
G
G
C
T
C
A
A
G
G
G
G
T
T
T
T
C
C
A
A
A
C
T
C
A
G
G
G
T
G
A
G
A
A
G
T
C
C
750
C
T
G
A
G
T
T
T
G
G
A
G
A
G
T
G
T
G
G
T
T
T
A
T
T
T
G
A
A
G
A
A
C
T
A
A
A
T
G
C
T
G
A
A
G
T
A
A
G
C
800
A
A
A
G
C
A
G
A
G
T
G
G
C
A
C
A
T
T
A
T
G
G
G
G
T
T
G
G
A
C
A
A
A
G
A
G
A
T
C
G
G
G
C
A
A
C
C
A
G
G
850
G
C
T
T
T
A
T
A
G
T
A
T
G
T
A
T
T
A
A
G
A
A
A
C
T
G
A
A
T
T
T
T
A
T
A
A
G
A
G
C
A
A
A
G
A
A
A
A
G
C
900
C
A
T
G
G
A
A
G
G
A
T
T
T
T
C
A
G
G
T
T
G
G
C
A
A
A
T
G
A
C
A
T
G
A
T
C
T
G
C
T
T
T
T
C
A
A
T
T
A
A
950
A
A
A
A
A
A
A
A
A
C
A
C
T
C
A
A
A
C
T
C
T
T
G
T
A
T
G
G
A
G
A
A
T
G
G
A
T
T
A
A
A
A
G
G
T
A
G
A
T
A
1000
A
G
G
G
C
T
G
A
A
G
T
G
A
G
G
C
A
G
C
C
A
T
T
C
G
G
G
A
A
T
C
T
A
C
T
G
C
A
G
A
A
G
G
A
G
G
C
A
G
C
1050
A
G
A
A
G
A
G
A
T
G
G
A
G
C
A
G
A
G
T
A
A
A
T
G
A
G
A
C
T
T
G
G
G
A
A
A
T
A
T
T
T
A
G
G
A
G
G
A
A
G
1100 |
var(1061):[T:0.08]
A
A
T
C
A
A
T
T
A
A
G
A
T
T
T
G
A
G
G
A
T
C
A
G
G
T
G
T
T
G
C
G
A
G
G
T
G
A
G
G
G
A
G
A
A
G
G
C
A
A
1150
T
G
T
C
A
A
C
T
A
T
G
A
A
T
C
C
T
A
G
G
T
A
T
C
T
G
T
C
A
T
G
T
G
C
C
A
T
T
T
C
T
A
G
A
A
A
A
A
G
A
1200 |
var(1191):[C:0.07]
G
C
A
G
G
T
T
T
G
A
G
G
A
G
A
A
A
G
A
T
G
T
T
T
G
G
T
T
C
T
G
A
A
C
A
T
A
G
T
T
T
G
T
A
G
A
G
C
T
C
1250
A
C
T
G
C
A
C
A
T
A
C
A
A
G
T
G
G
A
G
A
G
G
C
A
A
G
T
G
G
G
A
G
T
T
G
T
A
G
G
T
G
T
G
A
A
G
C
C
C
A
1300
G
A
G
G
A
G
A
G
G
T
G
T
G
G
A
C
G
G
G
A
T
A
A
G
C
A
T
T
T
A
A
G
A
C
T
C
C
T
C
C
A
T
C
T
A
G
A
A
G
G
1350
A
A
A
C
T
G
A
A
G
C
T
G
T
G
G
G
T
G
A
G
G
T
C
A
T
C
A
C
A
G
C
A
C
A
G
C
G
T
T
T
A
G
G
A
G
A
A
G
C
C
1400 |
var(1368):[A:0.17]
C
A
G
G
T
A
A
A
G
A
A
G
C
T
G
A
C
G
A
A
T
G
T
C
T
G
G
A
C
C
C
T
G
A
C
A
A
C
C
T
T
A
A
C
A
T
A
T
A
A
1450
T
G
G
T
T
T
G
A
T
A
G
T
G
G
A
G
G
T
G
G
A
G
G
C
A
A
T
G
T
A
G
A
A
A
G
A
A
T
G
C
C
A
G
A
G
G
C
A
G
G
1500
A
A
A
A
A
G
C
A
A
G
A
A
G
G
A
T
G
T
G
T
T
A
T
C
A
T
C
A
T
G
A
C
C
A
A
G
G
A
A
G
A
A
A
C
G
T
G
T
T
T
1550 |
var(1511):[G:0.41]
|
var(1550):[A:0.01]
C
A
A
G
A
A
C
A
A
A
G
G
C
G
T
C
A
A
C
T
C
T
G
C
C
C
C
A
T
G
C
T
T
C
C
G
A
G
C
T
G
T
C
A
A
G
T
A
A
A
1600
G
T
G
A
G
A
A
A
A
A
C
A
G
A
A
A
A
G
C
G
T
T
C
C
C
T
G
G
G
T
T
T
A
G
C
A
A
C
A
C
G
G
A
G
G
T
C
A
GT
1650
TGCTAAAGGG AGCTTCTAGA ATGACG
A
CGT CGCC
A
AATCT GTCCTCTGCC
1700 |
var(1677):[G:0.03]
|
var(1685):[G:0.02]
TGGATTCTCG GCGATGAAAC TACTACAGAG ACCTCCAAGT TTGGGCTTCT
1750
GCAAACACAG CACGTCCTTC TGATCGTTCT CTAAGATA
T
G TAAACAGAAC
1800 |
var(1789):[C:0.04]
GCCAGTTCCC AGCGTGGCAA CACGGGACTG GGCTGCAGCT CACCCAGCCG
1850
GCGGCCCCCG CCGGA
A
GCCG GCGGAAATAC CCCAGCGCGT GGGCGGAGCA
1900 |
var(1866):[T:0.01]
GCGGCCCGCA GAGGGAGGCG GTGGCGCCCA CGGAACAGCC GCGTCTAATT
1950
GGCTGAGCGC GGAGCCGCCC GGTGATTGGT GGGGGCGG
A
A
G
G
G
G
G
C
C
G
G
G
2000 | Exon 1 |
UTR
C
G
C
C
A
G
C
G
C
T
G
C
C
T
T
T
T
C
T
C
C
T
G
C
C
G
G
G
T
A
G
T
T
T
C
G
C
T
T
T
C
C
T
G
C
G
C
A
G
A
2050 |
var(2012):[T:0.01]
G
T
C
T
G
C
G
G
A
G
G
G
G
C
T
C
G
G
C
T
G
C
A
C
C
G
G
G
G
G
G
A
T
C
G
C
G
C
C
T
G
G
C
A
G
A
C
C
C
C
2100
A
G
A
C
C
G
A
G
C
A
G
A
G
G
C
G
A
C
C
C
A
G
C
G
C
G
C
T
C
G
G
G
A
G
A
G
G
C
T
G
C
A
C
C
G
C
C
G
C
G
2150
C
C
C
C
C
G
C
C
T
A
G
C
C
C
T
T
C
C
G
G
A
T
C
C
T
G
C
G
C
G
C
A
G
A
GTGAGT GGCCGTGAGG
2200 |
var(2151):[G:0.01]
TTCCGGGTGC CGGGGGTGGG ACGCGCAGGG ACAGAGTCCT CGGGCCGTGC
2250
AGTTGGACGC CGGGCGAGGA CGG
G
CCGTCT GTGCTGACCC GCGAATAGTG
2300 |
var(2274):[C:0.20]
ATCCCAGAGG AAGAACGCGT CCTGAGTATT CCAAGTGCGA GCAGTGCCAC
2350
CTGTTCTCGG AGATGGCACT GCTCAGCACG ATTGTCCTTG CCAGTCGTGC
2400
TCTGGCAGTG AAGAGGACTT GTGAAATATA ATTTTCCTCT
A
GAAGGCACT
2450 |
var(2441):[G:0.22]
GCACCTTCCC ATTTACCGTC ACTTTCTCCC GTTTCCACCC CTTTCCATCA
2500
GTCACGTTTT CTTCTTTTCG CAG
A
A
A
G
T
T
T
C
A
T
T
T
G
C
T
G
T
A
T
G
C
C
A
T
C
C
T
2550 | Exon 2 |
UTR
C
G
A
G
A
G
C
T
G
T
C
T
A
G
G
T
T
A
A
C
G
T
T
C
G
C
A
C
T
C
T
G
T
G
T
A
T
A
T
A
A
C
C
T
C
G
A
C
A
G
2600
T
C
T
T
G
G
C
A
C
C
T
A
A
C
G
T
G
C
T
G
T
G
C
G
T
A
G
C
T
G
C
T
C
C
T
T
T
G
G
T
T
G
A
A
T
C
C
C
C
A
2650
G
G
C
C
C
T
T
G
T
T
G
G
G
G
C
A
C
A
A
G
G
T
G
G
C
A
G
GTC AGTAAATGTT CATGGAATCA
2700
GATGAATGAG TACATGACTT CGGAATCTTA ATTATGTTTC TATGTTCAAA
2750
GATGGAAGGG CTTAATGTCT TCCTAGAGTT TAAAAGTGAT GTTTAGTTTT
2800
TGCAGACCCC C
C
ACCCCAAA ATAATATAGT CTTAAAAAAA TTTCTGGCCG
2850 |
var(2812):[:0.46]
GTACTGAAGA GTTCTGTGGT AGGTATGCAG AGGTGTGGTT GATTGTGCTT
2900
TGAATGTTGT TTGTATAGAT AAGGAGTTAT TTTCATAGAA CAGAAACAGG
2950
ACTTGAGCCT CCAGCACAGT CCATTGTGCA ACCATTGCTT AATGAGGATG
3000
CTGGACTCAC ACTTGTGAGA TCATAATATG GTTTGCTTTT TACTTTCTAA
3050
TTCCGTCTGA AATATACATA ATTTCA
A
T
T
C
A
A
C
A
A
A
C
T
G
T
T
T
C
G
A
G
C
A
C
A
3100 |
REPEAT
T
A
G
T
A
T
A
T
G
C
A
G
G
G
C
A
C
T
G
T
C
C
A
A
G
G
TCCA TAAGATGTTA AAAAGCAAAA
3150
TACCCCACTA CTCTACCCCC TCCCCACCCA CCTTCCCCCG CCGGGGACTC
3200
TGGAGGCATC ACAGAGCTTT ACAAGGAAAA CTGGAACCGA TGCTCTAATA
3250
GAGGTACAGA ATTCAGTGAG ACGCAAGTCA AAGAAAGCTT AATTGTGAGT
3300
AAGTCTCAGA CAACTTTATG AAAGAAGGGG CTTTTGTACA TAGCTTTGAA
3350
TGCTATAGGA TTTAGAGACG CAAAAATTTG TGGAGAGGCT GTTTCCAAGG
3400
GCGAGTAGCT GGAGCAAAGC AGAAATGTTG GGCACAGTTG AAAAACAGTA
3450
AATGATTTGG TGACTGGGTT GCTTTGTTGA TGGATGAAGA TGGGGTGGGG
3500
TGGAAATCTG CCTAGGAATG GACAGATCAT AGGATTTTTG CACAGGAGAT
3550
TGATGTGGTC CAATCTGTGG GCAGCAGAGG CTGGACTGGG AAGGTAGAAT
3600
GTTGGAGACA GGAAGGAGCA GGTCTTGGGA TGGAGTGGAA GGAATCAACC
3650
CTAAATCTGA GATTTGAGCT CAGTGACTGG GAGATGGCCA TGCCACTCCC
3700
TGAGTTGGTA ACAGGTTTTG TGAGTAGATG AGACTGACTC CAGATTTGTG
3750
AACATGAGCT TATTTATTCA TTG
T
T
T
T
T
T
T
T
T
T
T
T
A
G
A
G
A
C
A
G
A
G
T
C
T
C
T
3800 |
REPEAT
C
T
C
T
G
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
T
A
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
3850
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
C
C
C
T
G
C
C
T
C
A
G
C
C
T
C
A
C
G
A
G
T
A
G
T
3900
T
G
G
G
A
C
T
A
C
A
G
G
T
G
C
A
C
A
C
C
A
C
C
A
T
G
C
C
C
T
G
C
T
A
A
T
T
T
T
T
T
T
T
T
G
T
A
T
T
T
3950
T
A
G
T
A
G
A
G
A
C
A
A
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
G
G
4000
A
G
C
T
C
A
G
G
C
A
A
T
C
C
G
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
G
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
4050
C
G
T
G
A
G
C
C
A
C
C
TG
G
CCAGCC CAAACATGAG CTTATTAATT CACCTCTTCT
4100 |
var(4064):[A:0.01]
GTGCCAGGTG CTACATATGT ACTAGCTCAA CCAGCCTTAA GAACCAACTG
4150
T
G
G
C
A
G
G
G
T
G
C
G
G
A
A
G
C
T
C
A
C
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
4200 |
REPEAT
|
var(4196):[A:0.01]
A
G
G
T
G
G
A
A
G
G
A
T
T
G
C
C
T
G
A
G
G
T
C
A
G
G
T
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
C
A
G
A
A
A
C
A
4250
T
A
A
C
G
A
G
A
G
G
C
T
G
T
C
T
C
T
A
C
A
G
A
A
A
A
T
T
T
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
T
T
C
T
T
G
4300
G
C
T
C
G
T
G
T
T
T
A
T
T
G
T
A
T
T
A
G
T
C
T
G
T
T
C
T
C
A
T
G
C
T
G
C
T
A
T
A
A
A
G
A
A
C
T
G
C
C
4350 |
REPEAT
C
G
A
G
A
C
T
A
G
G
T
A
A
T
T
T
A
T
A
A
A
G
T
G
A
A
G
A
G
G
T
T
T
A
A
T
T
G
A
C
T
C
A
C
A
G
T
T
C
T
4400
G
C
A
T
G
G
C
A
G
A
A
G
G
C
A
T
C
T
C
T
T
C
A
C
G
G
G
G
C
A
G
C
A
G
G
A
G
A
G
A
G
A
A
T
A
G
A
T
G
C
4450 |
var(4429):[G:0.01]
A
A
G
C
A
G
G
G
G
A
A
A
T
G
C
C
A
G
T
G
G
C
T
T
A
T
A
A
A
A
C
C
A
T
C
A
G
A
T
G
T
C
A
T
G
A
G
G
C
T
4500
C
A
C
T
C
A
T
T
A
T
C
A
C
G
A
G
A
A
C
A
G
C
A
T
G
G
G
G
G
A
G
A
C
T
G
C
C
C
C
C
A
T
G
A
T
T
C
A
G
T
4550 |
var(4513):[T:0.02]
T
A
C
C
T
C
C
A
C
T
G
G
T
C
C
C
G
C
C
C
T
T
A
A
C
A
C
A
T
G
G
G
A
A
T
T
A
T
A
T
T
A
C
A
A
T
T
C
G
A
4600
G
G
T
A
A
G
A
T
T
T
G
G
G
T
G
G
G
G
G
C
A
T
A
G
A
G
C
C
A
A
A
C
C
A
T
A
T
C
A
C
T
T
G
C
A
G
T
C
T
G
4650 |
REPEAT
A
G
C
T
C
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
T
G
C
T
C
T
A
G
T
C
C
A
G
G
G
G
T
T
G
G
A
4700 |
var(4672):[A:0.01]
G
G
C
T
G
C
A
G
T
G
A
A
C
T
G
C
G
C
T
C
C
A
C
T
G
C
C
A
C
T
G
C
G
C
T
C
C
A
A
C
C
T
G
G
A
T
G
A
C
A
4750
G
A
G
C
A
A
G
T
T
C
C
T
G
T
C
T
ACTA AACACACAC
A
CACACACCTT GTTGATAGGG
4800 |
var(4780):[G:0.01]
GAGTAAGTTA CCTGGGTTCG CTTGGCTAAT AAGAGGCGTT GCAGCTCCCA
4850
TTGCCTGA
C
G GTCCAGCATA TCTGCTTTAG GTAGATCCTT ATTAGTTACC
4900 |
var(4859):[T:0.11]
AAGCAGGGAG GGAGACAGCC ACAGATTTTT CCACTCAGGT AAAATAAAAC
4950
TGAACTGAAA AATCAAATTG CTTCAGCAGG AGTGCCAAGG GGC
T
GGGCTT
5000 |
var(4994):[C:0.01]
GGGTCCGTTT CTACTGGTAT ATATGA
T
GAT AACTAGCTTT ATAGGCCAGA
5050 |
var(5027):[G:0.12]
CATTTCCTCA CACTCCTTTG GAAGGACATT TGTGGAGTAG GCGTGACCTC
5100
ATGCCTGCAT ACATGTGCTC GGCTACAAGT ATGCATACAC ACTCTTCCAT
5150
GCCCTACTTG AAAATCCAGA CTCCTTCCCC AGAGGTCTGG CAGGACAAGA
5200
TTCACTTGTG TCTGCTCTGC ATATTGCCAC CTGTGTGCTG ATATAAATCC
5250
TAAGTTACAT GATGGTCATG GGAGACTCTC CGTTTTCCTA ATGAATTTTA
5300
GGACTTGCTT ATATCAAGTT TTTGTTGTGA TTTTGAATCT TTAGGATCAC
5350
TATGTAAAAA TGGACTTAAC AGTTATCCAA AAAGCTAAGT GTTACTTTAT
5400
CCTTTTAAAT TACATTTAAT GATGTTTTAA TCTTTAAAAA TCATTACTTC
5450
TTTATGCCAG ATTTATTGTT TGTAGTAGGC AAAGAAGAAA ATATATCTTT
5500
TTAAATGTGT ATAAGAAAAA TAATGAATTT TACCATATGA ATCATAAATA
5550
TAAAAC
A
G
AA GTTTGAAAAT ATTTGAGTTA AATTACAAAT GTACTGTGAT
5600 |
var(5557):[:0.17]
TTGTAGGAGA GCAATTTTGG GAGAGTCTTG TGATTTGTCT TAAAGCAAGT
5650
CTAATTAAAA TAATGTTTTT CATGTATTTA TTTGATAAAA TCACAAACTC
5700
ATTTTAAAGG C
A
T
A
T
T
T
A
T
T
G
G
A
T
A
C
C
T
A
C
T
A
T
G
T
G
G
T
T
G
A
C
A
T
T
G
T
T
C
T
5750 |
REPEAT
A
G
G
G
A
T
A
C
A
C
C
A
G
T
G
C
A
C
A
G
A
A
T
C
C
T
C
C
A
C
C
A
A
C
A
T
C
C
A
T
C
C
C
T
T
C
A
A
G
T
5800
G
G
T
G
A
A
A
A
C
A
G
A
C
A
A
T
A
A
T
G
A
A
A
A
T
A
A
A
A
T
A
T
G
T
G
G
T
A
G
G
T
C
A
G
A
T
G
G
T
G
5850
G
T
G
T
A
A
G
T
A
C
T
A
T
G
A
A
G
A
A
A
A
A
T
A
A
A
C
C
A
G
G
G
A
A
A
A
G
A
G
A
G
A
G
C
A
T
G
T
T
T
5900 |
var(5893):[A:0.14]
C
C
A
G
G
G
T
G
G
G
A
G
G
T
G
G
T
T
G
C
A
G
T
T
T
A
A
A
T
A
A
A
A
G
A
G
G
C
C
A
G
A
G
A
A
G
G
C
T
G
5950
C
C
C
T
G
A
T
A
T
G
T
T
G
A
C
A
A
T
A
A
G
C
A
A
A
G
A
C
A
T
G
A
A
G
A
T
G
T
G
T TTCGTGGAGG
6000
AGAAAAAAAG TTCATCCCCA AACTCAATTA AAAACAGGCT TTAGACTATA
6050
AATGCCATTT AAATAAAATA TTCCTGGGAC AAACTATGTT TTGGATTAAG
6100
CAAGATATTT AAGAGTACAA CCTGATGCTA GGAAGGCTTT CTTTGGAGCT
6150
ATGGTTTCCA TATACATAGA AAGA
A
TGTAT ATTCTTTTTC CCTATAG
G
A
T
6200 |
var(6175):[G:0.03]
| Exon 3 |
UTR
M 1
G
T
C
T
C
A
G
T
G
G
T
A
C
G
A
A
C
T
T
C
A
G
C
A
G
C
T
T
G
A
C
T
C
A
A
A
A
T
T
C
C
T
G
G
A
G
C
A
G
G
6250
S Q W Y E L Q Q L D S K F L E Q 17
T
T
C
A
C
C
A
G
C
T
T
T
A
T
G
A
T
G
A
C
A
G
T
T
T
T
C
C
C
A
T
G
G
A
A
A
T
C
A
G
A
C
A
G
T
A
C
C
T
G
6300 |
var(6261):[C:0.08]
V H Q L Y D D S F P M E I R Q Y L 34
G
C
A
C
A
G
T
G
G
T
T
A
G
A
A
A
A
G
C
A
A
G
A
C
T
G
GTAA GGAAAATTCA CTAGACAGAA
6350
A Q W L E K Q D W 43
GAAGAAGTTT ACACCTTAAA AGTACTGGTT GATTAAGTGA CTTGGGGCCA
6400
TGTTTACTGG AAGATGAATT CCATCAATGG CCACTGGA
A
T
T
A
T
T
T
G
T
T
G
T
6450 |
NOT SCANNED
A
G
A
A
A
A
G
T
T
T
G
T
T
G
A
T
T
T
A
A
A
A
A
A
T
G
A
C
T
C
A
A
C
A
A
A
G
T
T
G
A
G
C
C
A
A
A
A
A
G
6500
T
G
T
C
T
C
A
A
C
A
A
A
G
T
T
A
A
G
T
A
T
A
T
T
A
G
T
C
A
T
T
A
A
G
C
A
C
T
T
T
T
A
T
A
C
A
G
T
T
T
6550
T
G
C
C
A
A
A
T
T
T
A
A
T
T
T
A
T
G
A
T
A
G
A
T
A
T
T
C
C
T
A
A
A
T
G
C
T
T
T
G
G
A
C
A
A
G
T
T
A
C
6600
G
G
A
A
T
A
C
T
G
A
C
A
C
C
G
A
T
T
AT TTTCCAACTT AGGATCCAGA CTATAGAAAG
6650
AAGTAATTTA AAAGAAATAA AGCCAAATTA
A
TGGTTAAAC ATTGATTAGA
6700 |
var(6681):[G:0.01]
AATATGAAGA AGGTAGTAAA ATTAAGGGGA TTTTTTTT
T
A ACTGATAGGT
6750 |
var(6739):[:0.93]
GTTCTACTTT AAAATTTATT
A
T
T
TGCTAAT TTAAAAACGT CCTGAAAGTA
6800 |
var(6771):[:0.42]
TTTGACA
T
AG AAAGTGAAGG GTCCCCTGTT GACTTTTCCC CCTTCAGAGA
6850 |
var(6808):[C:0.01]
TAGTCACCAT GAACACTGTC ATGCACAATC TCTTAGAGTT TAGAATTTTT
6900
TGTGCTAATT GCACATAAGA GAAATACCAC ATAAACTGCT GCTAAAAGCA
6950
ATGTCAGTTT CAAAAGAAGA AAATAAACCT AAGAAAATAC TTAAATTATT
7000
TTTAATAATT TCAATAAGGA AACCAACATT TGTTTTGTCT GTTTTACATA
7050
GACATTTAGT TCTAGAATGA AATGTGTAAA TGTTAAATCT CCTAG
G
G
A
G
C
7100 | Exon 4
E 44
A
C
G
C
T
G
C
C
A
A
T
G
A
T
G
T
T
T
C
A
T
T
T
G
C
C
A
C
C
A
T
C
C
G
T
T
T
T
C
A
T
G
A
C
C
T
C
C
T
G
7150
H A A N D V S F A T I R F H D L L 61
T
C
A
C
A
G
C
T
G
G
A
T
G
A
T
C
A
A
T
A
T
A
G
T
C
G
C
T
T
T
T
C
T
T
T
G
G
A
G
A
A
T
A
A
C
T
T
C
T
T
7200
S Q L D D Q Y S R F S L E N N F L 78
G
C
T
A
C
A
G
C
A
T
A
A
C
A
T
A
A
G
G
A
A
A
A
G
C
A
A
G
C
G
T
A
A
T
C
T
T
C
A
G
GTATGACCTG
7250
L Q H N I R K S K R N L Q 91
GTTTTTGTAT TTTAGTTGAA ATGTTCTCAT GTTTATGGAA GGCAGTTTTC
7300
TTCATTCAGC AAATACAATT GAGCACACAC TTATTGGTAT TTAGAGAAGT
7350
AATAGAGACT AACTCCATTT ATGTT
T
TCTA
C
AGCATCAGT AAATATAGCA
7400 |
var(7376):[A:0.43]
|
var(7381):[T:0.01]
TAAGTAAAAT AAGATACCAA TTTATTTTAT AAACACAGAA GGAATTTTTA
7450
GGGTTAAATG TATCACCTCT TAGGTATCAG TAATCCTGAG AAAAATGTGA
7500
TGCTATAATT TTGTTTTACT AAAAATTGTC AATATTTAAA CCAAAGAAAA
7550
GGGGCTACAT TTTAAGAGCA ATGATCTATA GTAATACATT AAAGCTCCAG
7600
GGAACATTAG TGGTTAGGTT CAGGTCCTTG CTATGCAAAT GAGGAATAAA
7650
ACAGGAAAGG TTTGACTTTC ACCTAAGGAA GTCAGGTGAC TTCAGGAACT
7700
AGACTCCACC TTGCCTTGCT TCTGGTGGAG TTGGCCTCTC CTGGAAGAGA
7750
AAGTCAAAGA AAGATCCAGA CATGAGAGAA CATGCTATAG AGTTTTAGGG
7800
GTTCTTCAGA TGTACTCCCA GCATGCCCTT GGGGTGGCTA TCATATTTAT
7850
GTTGTGTAAT AACAGAACTT TTCTGTTTTA ATGGAGGTGA AAGCTATCAT
7900
TTTCTTCTT
T
C
A
T
A
C
A
A
T
A
C
A
A
C
T
G
A
A
C
T
T
T
T
C
A
G
C
T
T
A
G
G
T
A
A
T
T
G
G
A
A
7950 |
NOT SCANNED
G
T
T
G
T
T
T
T
T
T
T
T
C
C
T
T
T
G
T
G
A
A
T
G
T
A
T
T
T
A
T
G
A
T
T
T
T
A
T
T
T
A
C
G
A
G
T
G
G
G
8000
G
A
A
A
T
C
A
A
A
T
T
A
A
C
T
T
T
A
C
A
G
A
A
A
T
T
T
G
T
T
C
T
C
A
T
A
C
A
G
A
C
C
T
T
G
C
A
T
G
A
8050
A
T
G
T
A
C
C
T
G
T
A
T
A
A
A
G
A
G
C
C
A
T
T
A
T
T
G
C
T
A
T
T
G
G
T
A
G
T
G
T
T
T
T
G
C
A
A
A
C
T
8100
A
G
C
T
T
T
G
A
C
A
A
T
G
G
C
A
A
C
A
G
A
A
A
A
C
C
C
T
A
G
A
TGAATATCT TTGGTC
T
AGT
8150 |
var(8147):[C:0.01]
TCAAAGCTTA GACCAACAGA TGCATTCATT GAGGAATGTC ATGTATAGTT
8200
TTTATATCAT TTGCATTGTC TCGGGATCCT AACCAAAGAT AATTGGCCTT
8250
AAGAAATATG GAAAGATATT AAAGTAAAAA TATTATGTGA ACCATATGTG
8300
AAAATACTTG TTTTTAAATC AAAAAGTAC
G
TTAGGTACCT GC
A
CTTAGAA
8350 |
var(8330):[A:0.01]
|
var(8343):[G:0.02]
AGTTAAAGCA ATTTTTGTCA TAATTCGTGA AAGAAATATT TTGATTTTAA
8400
CAAACATAGC TTATATAGAA TTTAATAGAT GAGAGATGAG GTTTCCCGGA
8450
GAATATAAAC AAATTCATAT CAACTTACAA TACACAATAA AGTAAACATT
8500
CTGCATTTTA ATTTATTTTT GTTCTAAC
C
A CTCAAATCTA G
G
A
T
A
A
T
T
T
T
8550 |
var(8529):[G:0.01]
| Exon 5
D N F 94
C
A
G
G
A
A
G
A
C
C
C
A
A
T
C
C
A
G
A
T
G
T
C
T
A
T
G
A
T
C
A
T
T
T
A
C
A
G
C
T
G
T
C
T
G
A
A
G
G
A
8600
Q E D P I Q M S M I I Y S C L K E 111
A
G
A
A
A
G
G
A
A
A
A
T
T
C
T
G
G
A
A
A
A
C
G
C
C
C
A
G
A
G
A
T
T
T
A
A
T
C
A
G
GTACTTTTTT
8650 |
var(8622):[T:0.01]
E R K I L E N A Q R F N Q 124
CTCATTGAAC ACATAAACTG TAATAAAA
T
A
A
A
A
A
T
G
T
A
T
T
C
A
T
T
C
A
T
C
A
A
8700 |
NOT SCANNED
A
T
A
C
T
A
T
T
A
G
G
G
C
C
C
A
T
G
T
C
A
A
A
G
C
A
A
T
G
A
T
G
A
A
T
A
T
C
T
C
T
C
T
A
A
T
T
T
T
A
8750
T
A
G
C
C
C
C
A
A
G
A
A
G
T
G
G
G
A
G
A
A
T
C
A
G
A
T
T
T
A
G
A
G
A
T
T
T
T
A
T
A
G
A
A
C
C
A
G
G
C
8800
T
T
T
A
A
G
A
A
A
G
A
T
C
C
T
A
A
T
C
T
A
A
T
G
G
A
A
T
T
A
A
G
T
T
C
T
A
A
C
G
A
G
G
A
G
A
G
A
G
A
8850
A
C
A
T
A
T
A
A
A
C
A
A
G
A
T
A
C
T
T
C
T
G
G
G
T
A
G
C
A
T
A
A
A
G
T
G
C
T
G
A
G
A
A
G
A
T
A
A
C
A
8900
T
G
C
T
G
A
A
T
T
C
A
T
G
G
A
G
T
G
G
C
T
GGGAGTGGG GTTGTTCCTT TAGATCAGGG
8950
TCAGGAAAGG CCTCTGAGTT GCT
G
G
C
A
C
A
G
G
A
A
T
G
G
A
A
G
C
A
G
G
C
A
G
A
T
A
G
9000 |
REPEAT
A
G
G
G
T
T
C
T
T
G
C
A
G
C
T
G
T
C
C
A
A
G
G
T
A
G
A
G
G
C
A
G
T
G
G
A
A
G
C
T
T
G
C
G
C
T
C
A
G
T
9050
A
G
A
A
T
C
A
G
T
G
G
A
G
G
T
A
G
G
A
A
G
A
G
G
T
G
G
A
C
A
G
A
T
T
C
A
G
G
T
T
A
T
G
C
T
T
T
G
G
A
9100
T
G
T
G
A
T
A
C
C
A
A
T
A
T
A
G
A
A
G
G
A
T
C
C
T
T
A
T
G
T
T
G
A
A
G
G
A
T
T
A
G
A
T
G
C
A
G
G
A
G
9150
T
G
A
G
A
G
C
A
G
A
A
A
G
T
C
A
A
G
G
A
T
G
G
C
T
C
T
A
C
A
G
C
A
G
C
T
A
C
T
A
G
A
A
C
C
C
C
T
T
G
9200
A
A
A
A
A
T
G
G
T
A
A
T
G
C
T
G
T
A
C
A
C
G
G
A
G
C
T
G
G
G
A
A
G
G
C
A
A
G
G
A
G
G
G
G
G
C
A
G
G
G
9250
G
C
A
G
G
A
G
T
T
T
T
G
T
A
G
G
A
C
T
C
A
A
T
A
G
G
T
T
T
G
TGGA
G
A
G
A
A
A
A
G
G
A
G
G
C
T
G
A
9300 |
var(9272):[G:0.01]
|
REPEAT
T
G
G
G
A
A
A
A
T
C
A
A
G
G
G
C
T
T
T
G
T
T
T
T
G
A
G
C
A
A
C
A
T
C
A
A
G
A
T
A
C
C
T
A
T
T
A
A
A
T
9350 |
var(9341):[T:0.01]
A
T
T
C
A
A
G
GCA TCAAACAGTA AATGAGTCAG AGTTGTACTA GTATCAAGAT
9400
TTTTGA
T
C
A
T
T
G
T
T
T
T
A
T
T
A
A
T
C
C
T
A
A
T
A
C
A
A
A
C
C
T
T
C
C
T
A
G
T
T
G
T
C
A
G
G
9450 |
NOT SCANNED
G
T
T
C
A
G
C
A
G
A
G
T
T
T
T
G
A
A
T
T
T
G
C
T
A
T
G
G
C
A
T
T
T
A
G
T
A
T
T
C
C
T
T
T
C
T
T
G
A
G
9500
C
A
C
T
G
G
G
G
T
G
G
T
G
A
C
A
A
C
A
A
G
C
C
A
A
C
A
G
G
C
A
G
G
C
A
G
T
G
T
G
A
A
G
C
C
A
C
C
A
T
9550
G
T
T
A
T
G
G
A
T
T
G
T
T
C
T
G
G
A
G
G
A
G
C
C
C
A
T
T
G
C
T
A
T
A
T
G
G
A
T
G
C
C
A
G
A
G
G
A
C
A
9600
C
A
G
T
A
T
G
C
A
T
C
C
T
G
T
G
T
G
C
A
T
T
T
C
A
C
C
A
A
C
A
A
A
T
A
A
C
T
A
C
C
G
A
A
G
T
G
A
A
C
9650
T
G
T
G
T
G
A
C
A
G
T
G
G
A
G
A
G
G
G
A
G
G
G
A
G
T
T
T
A
G
G
T
G
T
G
G
T
G
G
A
G
G
A
T
G
C
C
A
T
T
9700
C
T
C
C
A
C
A
C
A
C
T
G
C
C
T
G
A
G
C
A
T
T
T
G
T
C
C
C
A
G
T
C
C
T
T
G
T
A
A
T
C
C
T
G
T
C
A
C
T
T
9750
C
C
C
T
A
G
G
C
G
T
A
T
A
G
T
T
C
C
C
A
T
C
T
T
C
T
T
G
T
C
A
C
A
C
T
G
A
T
A
G
C
A
T
C
T
T
G
C
T
G
9800
A
A
C
T
G
A
G
C
A
T
G
T
A
A
A
G
A
T
A
C
A
T
A
T
T
G
C
T
T
A
T
T
C
T
A
A
A
C
T
C
A
A
G
C
T
G
G
C
T
A
9850
G
C
T
C
A
T
C
T
G
G
T
A
C
C
C
A
G
C
C
T
A
G
G
G
A
A
C
A
A
A
G
G
T
G
T
A
T
A
T
C
A
A
C
G
C
T
G
G
A
G
9900
G
A
G
A
A
G
C
T
G
G
C
C
A
G
G
T
T
G
T
C
T
C
C
T
C
T
G
A
A
A
G
A
G
G
T
G
T
G
C
C
T
G
T
C
T
C
T
A
A
C
9950
C
T
G
G
C
A
T
A
T
A
C
C
T
G
G
G
A
G
A
T
T
T
T
C
A
G
C
C
G
G
C
A
G
T
T
T
T
G
A
T
T
A
T
A
T
G
G
G
G
C
10000
T
T
C
C
A
T
C
C
T
A
A
A
A
G
T
A
G
T
A
T
G
C
G
T
G
G
G
C
C
T
C
C
T
C
T
G
T
A
T
T
T
C
T
A
A
T
A
G
A
C
10050
T
T
G
A
A
A
G
G
A
C
A
G
C
C
A
G
G
A
G
C
A
A
A
G
A
T
G
G
G
C
A
G
A
A
G
G
A
C
A
A
C
C
T
G
T
T
T
C
C
C
10100
C
C
A
G
C
T
G
C
A
A
G
C
A
T
G
T
C
A
T
C
C
T
C
A
C
A
T
T
T
G
G
C
C
C
C
T
T
G
G
C
C
C
A
G
A
G
A
T
G
G
10150
C
A
T
T
G
G
C
A
G
C
A
G
A
G
T
A
G
G
T
G
A
C
C
C
C
T
G
C
T
C
T
C
C
C
A
C
A
T
G
A
A
C
C
T
C
A
T
C
C
C
10200
C
T
G
G
C
T
T
T
G
G
A
T
C
T
T
G
A
A
G
G
T
T
T
A
C
C
A
G
C
T
T
T
T
G
A
G
C
T
C
C
C
T
C
C
C
C
A
T
T
A
10250
A
A
A
A
T
G
T
A
G
G
T
A
A
T
C
T
G
G
G
G
A
T
T
G
T
T
T
T
G
A
G
C
C
T
C
T
C
A
G
A
G
G
A
C
A
C
C
T
G
A
10300
G
T
C
C
G
T
G
A
A
C
A
C
C
T
T
T
G
C
A
A
A
G
C
C
T
T
C
T
T
G
G
G
G
T
G
T
G
A
G
G
G
A
A
G
T
T
T
C
T
G
10350
G
G
T
G
T
C
T
G
G
G
G
A
T
G
T
C
A
G
G
G
A
A
A
G
G
G
A
A
A
A
G
G
C
A
C
A
A
T
A
G
G
T
G
C
C
T
C
C
T
T
10400
T
C
C
A
A
A
G
T
T
A
T
C
C
A
G
C
C
A
A
C
T
A
T
T
G
G
C
T
A
G
G
T
A
G
G
T
C
A
G
A
A
A
C
A
T
T
T
C
T
T
10450
C
A
C
C
A
T
T
T
C
C
C
C
C
C
T
T
G
T
T
G
A
A
G
T
A
A
C
T
T
T
A
T
T
T
T
A
T
T
A
A
T
A
C
A
G
A
C
A
T
G
10500 |
REPEAT
C
A
T
C
A
C
T
T
A
A
T
G
A
C
A
C
A
G
A
T
A
C
A
T
T
C
T
G
A
G
A
A
A
T
G
C
A
C
C
A
C
T
A
G
G
T
G
A
T
C
10550
G
C
G
T
T
T
T
T
G
T
G
C
A
A
A
C
A
T
T
A
T
A
G
A
G
T
G
C
A
C
T
T
A
C
A
C
A
A
A
C
C
C
A
G
G
T
G
G
T
A
10600
T
A
A
C
C
T
A
C
C
A
T
A
C
A
C
C
T
A
C
A
C
T
A
T
A
T
G
G
T
A
A
A
G
C
C
T
A
T
T
G
C
T
C
C
T
A
G
G
C
T
10650
A
C
A
A
A
C
C
T
G
T
A
C
A
A
T
A
T
G
A
A
G
T
T
G
T
A
C
T
G
A
A
C
G
C
T
A
T
G
G
G
C
A
A
T
T
G
T
A
A
C
10700
A
C
A
A
T
G
T
T
A
T
T
T
G
T
G
T
A
T
C
T
A
A
A
C
A
T
A
G
A
A
A
A
G
G
T
A
C
A
G
T
A
C
A
G
A
T
A
G
T
G
10750
T
G
T
A
A
A
A
G
A
T
A
A
A
A
G
G
T
G
G
T
A
C
C
C
C
C
A
T
A
A
A
G
C
T
C
C
A
T
T
C
T
A
A
T
C
T
T
A
T
G
10800
G
G
G
C
C
A
C
T
G
T
C
A
T
A
T
A
C
G
C
G
G
T
C
C
A
T
C
G
T
T
G
A
C
T
G
A
A
C
C
A
T
T
G
T
T
A
T
G
T
G
10850
G
T
A
C
A
T
G
A
C
T
G
T
G
T
A
T
A
T
T
C
T
A
T
T
C
A
T
G
C
T
A
A
A
G
T
A
T
A
T
G
T
G
T
A
T
G
G
A
A
T
10900 |
REPEAT
G
G
T
G
T
G
A
T
G
T
C
T
G
G
T
A
T
T
T
G
C
T
T
C
A
A
A
T
A
A
T
C
C
C
A
T
T
T
G
G
G
G
A
C
T
A
G
A
A
G
10950
A
G
T
A
A
G
G
A
G
A
A
T
A
G
G
G
A
T
G
A
A
A
C
A
A
G
G
C
C
A
T
C
C
A
T
G
A
A
T
G
C
T
A
A
T
T
G
T
T
G
11000
A
A
A
C
T
G
T
G
A
T
A
G
G
T
A
C
A
T
G
G
G
G
A
T
T
C
A
A
C
A
G
A
T
T
C
A
A
C
A
A
G
T
T
A
A
A
A
A
C
A
11050
T
G
C
A
A
A
A
T
T
C
C
G
A
G
T
T
A
G
T
T
C
A
G
A
T
C
A
T
T
T
A
G
A
G
A
C
C
A
C
A
A
A
A
T
T
C
T
A
T
A
11100
G
A
C
A
T
G
C
C
G
A
G
A
T
G
G
G
A
A
A
T
T
A
T
T
G
T
T
C
C
C
A
T
T
G
T
T
T
T
T
T
A
A
T
A
T
A
A
G
A
G
11150
C
T
T
T
T
A
G
A
A
A
A
T
A
C
A
T
T
T
A
A
G
A
G
A
A
T
A
T
T
A
T
G
C
T
A
T
A
C
A
C
A
C
T
G
T
A
G
T
A
G
11200
A
C
T
A
T
A
A
A
T
G
T
T
T
C
G
T
G
T
G
C
T
G
T
C
T
T
A
C
A
G
C
A
C
A
C
T
A
A
G
T
T
T
T
T
T
T
C
T
T
T
11250
C
T
T
T
T
T
T
T
C
T
T
T
G
T
G
G
T
G
A
A
A
A
A
G
C
T
A
G
T
T
G
C
A
T
G
T
C
T
A
G
A
C
A
A
A
A
A
T
T
T
11300
A
G
G
T
C
C
A
T
A
G
G
G
T
C
T
G
A
A
G
G
G
A
T
G
G
G
G
A
G
A
A
T
T
T
C
T
T
T
C
A
G
G
T
G
G
G
A
G
G
G
11350
A
A
A
G
A
C
A
T
G
A
G
G
T
G
G
A
T
T
C
T
A
A
G
C
T
T
C
C
T
T
T
G
C
T
G
T
T
C
C
A
T
C
T
T
T
G
T
G
T
T
11400
C
T
T
A
A
G
G
A
C
T
A
A
T
G
G
T
T
A
C
C
A
T
A
T
G
C
T
G
A
G
T
G
C
T
T
A
T
C
A
T
G
T
T
T
C
A
G
G
C
C
11450 |
REPEAT
C
T
G
T
G
C
T
A
A
G
C
A
C
T
T
T
A
T
A
A
A
C
A
T
T
A
T
T
T
C
A
T
T
T
G
A
G
T
A
A
A
T
A
C
T
T
T
C
G
A
11500
A
A
C
T
A
T
C
A
C
T
G
A
A
G
T
T
A
G
G
T
A
T
T
C
T
T
A
T
C
C
C
C
A
T
T
T
T
A
A
A
G
A
T
G
A
G
A
A
A
A
11550
C
T
A
A
G
G
T
T
T
A
G
A
G
G
T
C
A
G
G
T
A
C
T
T
C
A
C
T
C
A
G
A
G
C
C
A
C
A
G
A
G
C
T
A
A
T
G
A
G
A
11600
A
G
T
A
G
G
T
T
T
G
G
A
A
T
T
T
A
A
A
C
C
C
A
G
T
A
T
T
G
T
C
C
A
A
C
T
C
T
A
A
A
A
C
T
A
G
T
T
C
A
11650
C
T
G
G
A
G
A
A
G
T
C
A
C
T
T
T
T
C
A
G
T
T
T
T
C
T
A
A
T
C
T
G
T
G
G
G
A
T
G
G
G
A
T
A
T
G
A
G
G
G
11700
C
T
T
T
C
T
G
G
C
T
G
G
A
A
C
T
T
C
T
C
A
C
A
C
C
C
A
T
G
G
A
G
T
G
C
C
T
A
T
T
C
C
C
T
T
A
C
T
T
G
11750
G
A
C
A
A
C
T
G
C
T
C
A
C
T
C
C
A
T
T
G
G
A
A
A
G
G
A
C
C
C
C
C
T
T
C
C
T
G
A
G
C
A
G
A
A
G
A
C
T
T
11800
T
T
C
T
T
T
G
C
T
C
T
G
G
G
G
T
C
T
G
G
A
G
T
A
A
C
C
A
A
G
T
T
C
C
C
A
T
C
C
A
A
A
C
A
A
G
G
T
C
T
11850
C
T
A
G
A
G
G
T
A
C
A
G
T
A
G
T
G
A
A
A
C
G
A
G
A
A
A
G
T
A
A
G
A
G
T
C
A
A
T
G
A
C
A
G
C
C
G
A
A
G
11900
T
C
C
C
T
T
C
C
A
A
C
T
T
C
A
G
T
G
T
T
T
G
A
A
A
T
T
C
C
C
G
T
G
G
T
T
T
C
A
G
T
A
C
T
C
C
T
G
G
T
11950
T
T
C
T
T
A
G
A
A
A
G
T
T
A
A
A
A
A
G
T
T
A
A
G
G
A
C
T
C
A
C
T
G
T
G
A
A
A
G
T
G
G
T
A
T
C
A
G
T
A
12000
C
T
A
A
A
G
T
G
T
A
C
A
G
G
A
G
C
A
G
C
C
A
A
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C
A
T
C
T
G
C
T
T
A
G
C
A
G
A
T
G
G
G
G
G
C
A
G
G
G
12050
T
G
G
A
G
G
G
A
A
G
C
A
G
G
G
A
G
G
G
A
T
G
A
G
T
G
G
A
A
G
G
G
G
T
A
A
G
A
G
A
G
C
A
C
C
A
A
G
G
G
12100
T
T
T
G
A
G
T
G
A
C
T
T
G
G
A
G
G
G
A
C
T
A
C
T
G
C
C
C
A
A
G
T
T
G
G
A
A
G
C
A
G
G
A
G
A
T
T
T
C
T
12150
T
A
G
G
C
C
C
T
G
C
C
A
C
A
G
T
C
A
C
C
A
G
G
T
T
T
T
T
C
C
A
C
C
A
A
G
C
A
T
C
T
C
C
C
A
G
C
A
A
G
12200
T
C
A
G
T
A
G
A
A
A
G
G
G
G
A
T
G
T
A
G
A
A
G
C
T
G
G
G
G
A
T
G
T
A
G
C
T
G
C
T
G
T
T
T
T
A
C
A
G
C
12250
C
A
T
T
G
T
T
T
A
T
A
T
C
C
C
T
G
T
T
C
T
C
T
A
A
A
C
C
G
A
G
C
C
T
T
G
G
T
C
A
T
T
T
G
G
G
A
G
G
A
12300
G
G
C
C
T
G
G
G
A
A
G
T
C
A
G
A
A
T
T
C
T
C
C
A
G
T
G
G
C
C
T
G
G
T
C
C
C
T
C
T
C
T
C
T
A
G
G
T
G
T
12350
A
G
T
G
T
C
C
C
A
G
C
T
G
T
T
A
C
A
A
A
G
C
C
C
A
C
A
G
G
A
C
A
C
C
G
T
G
C
C
C
A
C
A
T
C
C
T
G
C
T
12400
G
G
C
T
T
A
G
A
A
G
T
T
G
T
A
T
T
A
G
T
C
T
G
T
T
C
T
T
G
C
A
T
G
G
C
T
A
T
A
A
A
G
A
A
A
T
A
C
C
T
12450 |
REPEAT
G
A
G
A
C
T
G
G
G
T
A
A
T
T
T
A
T
A
A
G
A
A
A
A
G
A
G
G
T
T
T
A
A
T
T
G
A
C
T
T
A
T
G
G
T
T
C
T
G
C
12500
A
G
G
C
T
G
T
T
A
C
A
G
G
A
A
G
C
A
T
G
G
T
G
C
T
G
G
C
A
T
C
T
G
C
T
C
A
G
T
T
T
C
T
G
G
G
G
A
G
G
12550
C
C
T
C
A
G
G
A
A
A
C
T
T
A
C
A
G
T
C
A
T
A
G
C
A
G
C
A
G
G
T
G
A
A
G
G
G
G
A
A
G
C
A
C
A
C
A
T
A
T
12600
C
A
C
A
T
G
G
C
C
A
G
A
G
C
A
G
G
A
G
G
A
A
G
C
A
G
G
G
G
A
G
A
G
G
T
G
C
T
C
C
A
C
A
C
T
T
A
A
C
C
12650
A
G
A
T
C
T
T
G
T
G
A
G
A
A
C
T
C
G
T
G
A
T
C
A
C
A
A
G
G
A
T
A
G
T
A
C
C
A
A
G
A
G
G
A
T
G
G
T
G
C
12700
T
A
A
A
C
T
A
T
T
C
A
T
G
A
G
A
A
A
C
T
G
T
C
C
C
C
G
T
G
A
T
C
C
A
G
T
C
A
C
C
T
T
C
C
A
C
C
A
G
G
12750
C
C
C
C
A
C
C
T
C
C
A
A
C
A
A
T
G
G
G
G
A
T
T
A
C
A
A
T
T
C
A
T
G
A
G
A
T
T
T
G
G
G
T
G
G
G
G
A
C
A
12800
C
A
G
A
T
C
C
A
A
A
C
C
A
T
G
T
C
A
G
A
A
T
T
A
G
A
C
A
A
C
A
G
C
A
A
A
G
A
T
T
T
C
C
C
T
G
C
A
C
A
12850
G
G
C
A
G
A
A
A
G
C
T
G
T
A
T
G
G
A
A
C
T
C
C
T
C
A
A
A
G
T
G
A
C
A
A
C
T
T
A
T
T
C
C
A
A
C
C
G
C
C
12900
C
A
G
A
G
A
A
A
C
C
C
C
T
T
T
T
G
T
C
A
C
T
G
A
G
T
G
A
T
A
T
G
T
G
G
C
A
C
C
T
T
G
G
A
C
T
T
A
C
A
12950
G
A
G
G
A
T
A
C
C
A
G
T
A
A
C
A
T
T
C
A
T
G
T
A
T
T
T
C
T
A
A
T
A
C
A
C
A
C
T
T
T
A
C
A
G
C
T
G
A
T
13000
A
C
A
A
T
T
C
A
C
A
T
G
C
T
T
T
G
A
A
C
T
T
C
T
G
C
T
G
T
T
G
G
A
G
A
A
T
A
T
G
T
A
A
C
A
T
G
A
A
G
13050
G
A
A
A
A
C
T
T
C
C
T
A
T
G
A
A
G
A
G
A
G
A
A
T
A
A
C
T
T
T
G
A
T
G
A
C
G
T
A
T
G
C
C
T
G
A
T
A
A
A
13100 |
REPEAT
G
A
T
A
A
A
A
C
A
A
A
A
A
A
T
T
A
T
G
G
A
C
C
A
A
T
T
T
T
A
C
T
T
A
T
G
A
G
T
A
T
C
A
A
T
A
T
A
A
A
13150
A
G
T
C
C
T
C
A
A
T
A
A
G
A
T
A
T
T
A
G
G
G
A
T
C
A
G
A
A
T
T
A
A
A
T
A
C
T
A
C
A
T
T
A
A
G
A
A
A
G
13200
G
A
C
A
T
G
A
C
C
A
A
A
T
A
T
G
A
T
T
T
A
T
T
A
T
A
G
G
T
T
A
C
A
A
G
G
G
T
A
G
T
C
C
A
T
G
A
C
T
G
13250
G
G
C
A
A
C
C
T
A
T
T
A
A
T
G
C
A
A
T
T
C
A
C
T
A
A
A
T
T
A
A
T
A
G
C
T
A
C
A
A
G
G
A
G
A
A
A
A
A
A
13300
G
C
A
T
T
T
A
C
T
T
C
C
T
T
C
C
A
C
A
G
A
A
G
C
T
G
A
A
A
A
G
A
T
C
T
A
A
C
A
G
A
A
T
T
C
A
A
T
A
C
13350
T
C
A
T
T
C
C
T
C
A
T
A
A
A
A
A
C
A
T
T
G
A
A
T
A
A
G
A
T
A
G
G
A
A
T
T
G
A
T
G
G
G
T
A
C
C
T
C
T
T
13400
T
A
A
C
A
C
A
A
A
A
A
A
A
T
A
T
A
T
A
T
A
T
C
T
C
C
A
T
T
C
T
A
G
A
G
A
C
A
G
T
A
T
C
T
T
A
C
C
T
A
13450
A
C
T
G
G
G
A
A
A
A
C
T
C
C
A
G
T
A
A
G
T
C
A
G
A
A
A
C
A
C
A
G
C
A
A
G
G
A
T
G
C
T
G
T
G
T
T
T
C
C
13500
A
C
T
G
C
T
A
T
T
T
A
G
C
A
T
C
G
T
A
T
T
G
G
T
G
G
T
A
T
T
G
G
C
C
A
A
T
G
C
A
A
T
T
A
G
A
C
A
A
G
13550
A
G
A
A
A
A
C
C
A
T
T
A
G
A
A
G
C
A
T
A
A
G
A
A
T
T
A
A
A
A
A
C
A
A
C
A
T
C
A
T
A
A
A
G
A
T
G
T
T
A
13600
G
C
T
C
T
C
C
C
T
G
A
G
T
T
A
A
C
T
T
G
T
A
A
T
T
T
T
A
A
T
G
T
T
A
T
T
C
C
A
A
T
A
A
A
A
A
T
A
C
C
13650
A
A
C
A
A
G
T
T
G
T
T
T
T
C
T
G
G
A
G
C
T
A
C
A
C
A
A
A
T
T
T
G
T
T
C
T
G
A
A
A
T
T
T
A
T
G
A
A
A
A
13700
A
T
A
A
A
C
A
T
G
C
A
A
G
A
G
T
A
G
C
G
A
G
G
C
A
A
C
T
T
C
T
G
A
A
C
A
A
G
T
A
G
A
G
C
A
A
T
G
A
A
13750
A
T
G
G
G
A
C
T
G
G
C
C
C
T
A
C
T
A
G
A
C
A
G
A
C
T
A
T
A
A
A
T
C
C
T
C
T
A
T
A
G
T
C
A
A
A
C
A
T
C
13800
C
T
T
C
A
A
G
G
G
T
T
C
A
G
G
C
T
T
A
T
G
A
A
T
A
A
A
A
A
G
G
C
C
A
A
T
G
G
G
A
A
A
G
A
A
G
A
G
A
A
13850 |
REPEAT
A
A
A
T
C
T
A
G
A
A
G
G
A
A
A
C
C
C
G
T
G
T
G
C
A
T
A
T
G
G
A
A
A
T
T
C
A
T
G
T
G
A
T
A
A
A
G
T
T
G
13900
G
C
A
G
C
T
C
A
G
A
G
C
A
C
T
G
G
G
G
A
A
A
A
T
A
A
T
G
G
A
C
T
T
T
T
C
A
G
T
A
A
A
T
G
C
T
G
T
T
A
13950
A
G
A
C
A
A
A
T
G
G
A
A
A
G
C
T
A
A
C
T
G
G
A
A
A
A
A
A
A
G
T
G
A
A
A
G
C
A
A
A
A
A
G
T
G
G
A
C
C
C
14000
A
T
A
C
T
T
C
A
C
T
C
T
G
A
T
C
A
T
G
A
G
A
A
T
A
A
A
C
A
A
A
T
A
T
A
T
C
A
G
C
G
A
T
C
T
A
A
A
A
G
14050
T
T
A
A
A
A
A
G
A
A
A
A
A
A
A
G
G
A
A
A
C
C
T
T
G
C
A
A
G
T
G
C
T
A
G
G
G
A
A
A
T
G
A
G
T
G
A
A
T
G
14100
A
T
G
T
A
A
T
G
T
C
A
A
T
A
G
G
G
A
A
A
G
G
C
T
T
T
C
T
A
A
T
A
T
A
A
G
G
A
A
A
A
T
T
C
C
A
G
A
C
A
14150
T
G
A
A
G
A
A
A
A
G
A
T
G
A
T
A
C
A
A
T
T
G
C
A
C
A
T
A
T
A
A
A
A
A
C
A
C
C
C
C
C
G
T
A
G
A
A
T
C
T
14200
G
T
G
C
T
G
T
A
T
A
G
G
G
C
A
C
T
G
T
G
T
A
A
G
A
A
A
G
G
T
T
G
A
C
A
A
G
C
A
C
A
G
T
T
T
T
T
G
C
T
14250
G
T
G
T
G
G
G
G
G
A
T
T
T
A
A
C
T
C
T
A
A
A
A
A
A
A
T
A
A
C
A
T
C
T
T
T
C
T
A
G
A
A
T
T
T
A
A
T
C
T
14300 |
REPEAT
C
T
A
T
G
A
G
A
A
C
A
G
G
G
A
T
C
A
C
T
G
G
T
T
A
C
C
A
C
T
C
T
A
A
C
A
C
C
C
G
A
G
C
C
T
A
G
A
G
C
14350
A
T
T
G
C
C
T
G
A
C
A
T
T
T
A
C
T
T
A
G
T
A
C
C
T
A
G
T
A
T GTGCAGGGTA CATCTGGTGT
14400
ATGAAGCAAG TAGAGACCCT GTCACTTCTG AGTGTTCTGA TTA
T
CAAAAA
14450 |
var(14444):[C:0.01]
TAGGACTGAA TACTCCCAGG CAAGTCTGGG TTTATATTCA TTATTGACTT
14500
TATAGTAGCA GATTTTCATT GATGGCCTTA ATGGAGTGA
T
T
T
C
A
T
A
T
T
T
C
14550 |
REPEAT
A
G
T
A
T
A
C
C
T
C
T
G
G
A
T
C
A
C
C
C
G
G
A
A
T
T
G
T
G
T
T
A
A
A
A
T
A
G
G
G
T
T
T
T
C
T
G
A
T
T
14600
G
C
C
T
A
A
T
C
A
T
A
T
T
A
G
C
C
C
T
T
G
A
G
A
T
T
T
T
C
C
A
A
C
A
A
G
A
T
C
C
T
A
G
G
T
G
G
T
G
A
14650
G
A
T
G
C
T
G
C
T
G
G
T
C
T
G
A
G
G
A
C
C
A
C
A
C
T
T
T
G
A
A
T
CAGAAAGC TTTAAGATAA
14700
ATAAGGACTG AGTTAATGAG AGTAATCTTG TGTATAGTAT CTGAGAAACC
14750
GTGAACT
A
AA TTCCAGCGTG GTACCATGCA ACTGTATGAA TTAATGGAAA
14800 |
var(14758):[G:0.01]
CTCCCAGAAA TACTGTTTAT TTTAGACATG AATTGAGCCT AGTTTTTTTG
14850
TAACCTTGTT AACAGTTTGC CAGCATTTTC CAGGGCCTTG GGAAAAATTT
14900
CATATTGACA CATAAGCAGG AAGCCTGTAG TACATGTCAG AAGATCTGGA
14950
AGGCAAGTGG GGACTTGACT TTGGAGTGTA ACCAGCAAGT ACACACCCTG
15000
AAGAAAACGA TGGCTATAAT CATGCCCTTC CCATTACAG
G
C
T
C
A
G
T
C
G
G
G
15050 | Exon 6
A Q S G 128
G
A
A
T
A
T
T
C
A
G
A
G
C
A
C
A
G
T
G
A
T
G
T
T
A
G
A
C
A
A
A
C
A
G
A
A
A
G
A
G
C
T
T
G
A
C
A
G
T
A
15100
N I Q S T V M L D K Q K E L D S 144
A
A
G
T
C
A
G
A
A
A
T
G
T
G
A
A
G
G
A
C
A
A
G
G
T
T
A
T
G
G TGAGTATTGA GTAAACACAT
15150
K V R N V K D K V M 154
G
C
ATTTATTC TGAAACTTTC TGTAGGGGAA AAA
A
GGTTTC AATTGCTTGG
15200 |
var(15152):[A:0.02]
|
var(15184):[G:0.01]
GGTGTAAACC TCGTAACTGA GTTCAGTCTT TTAAGTAGTT GGGAAGAAAA
15250
ATTTTGCAGA AGTCTCAAGC TATAAGTAAA CAAATTGGCA AAATCAATGA
15300
CCAGATAGAC TTTTTGAATG GCCTCTTATA ACTGCCAAAC ATTGAGTTTA
15350
GCTTTTTCTT CCCTGAAAGA TCATGCAGTA AATGTTGACT TTGCCCAGTA
15400
CCCAGTAAAT GAGATGTTGC TGCTCTAAAT GGGCCTTTAT GTCCACACCT
15450
CTCAAATCAC AGTGCCCCAG GATAAACAT
G
GCCCATCCTT CCCAGTCATC
15500 |
var(15480):[A:0.01]
TGTTTTATCC TAAGACTTGG AAGAGGAACA AAAATACATT TTATTGAAAG
15550
AAATTTGGAT ACATTTCTGA TTAAGACATC CACAGCAATT TTAGGATACA
15600
ACTTCCAAGT CAATTTATGG AAGCAGAGGG CTGCTCTGGC GTCCTCGATG
15650
GTGCGCATTT ACTCCTCTCC ACTGTTAGGG CTGGTGTGGG GAGGGTTTGA
15700
GGAGTTCTTT TTCA
C
A
G
A
G
G
CAGAGGCCTG TGTTTGTGGA AAAGGCCTTC
15750 |
var(15715):[:0.93]
CAGCTTAGGG
G
TTTGGTCCT C
T
G
TGGATCT CTGGGTAATA GCAGTATGGC
15800 |
var(15761):[A:0.08]
|
var(15772):[:0.01]
CTTGACTTAC ATGCTTCAGA CAGCATCTTT CCAAACTCCA CATTCTTTGG
15850
AGCAACTTCA TCTTGCGGTC TCCTAGGGAA ACATTTCATT AAAGTAGAAA
15900
C
C
GAGTGAGC CCAGTCCAGA AATAGCCATG GAAATCCAGA GAAGAATATG
15950 |
var(15902):[T:0.01]
TGGAAATGTG ACCAAATCCC AAACAAA
T
GA GGCTTATTTG
T
A
G
A
A
T
G
A
A
C
16000 |
var(15978):[G:0.12]
|
REPEAT
|
var(15992):[G:0.01]
A
T
A
C
A
A
T
T
T
A
T
T
G
T
C
C
A
G
A
T
G
G
A
G
A
T
G
C
A
T
T
T
G
A
G
C
C
G
C
C
A
A
G
A
G
G
G
C
A
C
16050
T
G
T
T
T
A
T
A
A
T
T
A
C
A
G
C
A
A
G
T
A
T
G
A
A
A
C
C
A
G
G
T
C
T
A
T
C
C
C
G
G
T
A
A
A
G
C
A
G
G
16100
G
A
T
G
T
A
T
G
G
T
C
A
C
T
T
T
TCTT ACTTGGAAGG AATGAGGAAA TTTTCTGTGA
16150
GCTTTTTCCC
C
GCCTGCTGT GGGCTTCACA GTGGAGTTCT TAAATCATAT
16200 |
var(16161):[T:0.05]
CTCAGAGGTA GTCTCAAAAA TGATGAGGAA GAATCAAAAT TTAGGCGCTG
16250
GAACCAGGTT AAGGACATAC AAATCAGTTT GAGAATTATT GTACGTTTGC
16300
TTTTTTAAAA ATGTTATGAC ATACTTATTA ATGAAACCGA AATTATTTCA
16350
T
GTATATGAT TAGAACTGTC CAAGTCAGAT CTCTTTTTGG GGGAGATGGA
16400 |
var(16351):[C:0.01]
ATTGTTTTCG TGTTTCTCTG GGTTCCATAG AAGCAATACT CTGTTGCCTA
16450
AAGTCTTTGG AAGTTGCTGA TCAGTAGAAA ACATGTTTAC ATCTTTGTTT
16500
GTAG
T
G
T
A
T
A
G
A
G
C
A
T
G
A
A
A
T
C
A
A
G
A
G
C
C
T
G
G
A
A
G
A
T
T
T
A
C
A
A
G
A
T
G
A
A
T
16550 | Exon 7
C I E H E I K S L E D L Q D E 169
A
T
G
A
C
T
T
C
A
A
A
T
G
C
A
A
A
A
C
C
T
T
G
C
A
G
A
A
C
A
G
A
G
GTAAGGG TTCACAACTG
16600
Y D F K C K T L Q N R 180
AAGTGGTGCC CGTTGGCTGC AATTTTTTCT GTTCACACTA GATAACGAAG
16650
ATGATTACTC CTTTCTATTT GCCGAGTATT TTATGACTCT GAATTCTTCC
16700
TTGATAACCC AGGC
C
A
G
G
G
C
T
T
C
T
C
A
A
C
A
T
C
C
A
A
T
A
T
T
A
T
T
G
A
C
A
T
T
T
C
G
16750 |
REPEAT
G
G
C
T
A
A
T
T
T
G
T
T
G
T
T
G
G
G
G
C
T
G
T
C
C
T
G
G
C
A
T
T
G
T
A
G
C
G
T
G
T
T
T
A
A
C
A
G
C
A
16800
T
C
C
C
C
G
A
C
T
T
T
T
A
C
C
C
A
C
C
A
G
A
T
G
C
C
A
G
T
A
G
C
A
C
T
A
C
C
C
A
G
G
A
G
C
C
C
T
C
A
16850
C
T
A
G
T
G
A
C
A
A
C
C
A
A
A
A
C
T
G
T
C
T
C
C
A
G
A
G
A
T
T
G
C
C
A
A
A
A
G
T
C
C
C
C
T
A
G
G
G
G
16900
T
C
A
G
T
G
A
C
C
C
C
T
A
C
T
T
G
A
T
A
A
C
C
A
C
T
G
GTT ATGTGTTACT CACCATAT
T
T
16950 |
var(16949):[A:0.01]
ATTGCGCCTA GCCCACTGAC TGACACAGAG CGATAGATAT GTGGAGTTCC
17000
CCTGCCCTAA TATCTCAGGT TTCTTCAAAC GTTGCAGGGC CACGTGTATA
17050
CACAGCAGAT AAGCTCAGTA TTTTTCTCAT GTTTTAAAGC AGTTTTACTG
17100
TATTTTCTTA CTGTTGCGTG TTTTTAATGA GAGTAGCAAC AGAAAAGATC
17150
TCAAGAATGT ACATTGTGTA GGACACGTAG GGTACTGCTG TTACTCTATT
17200
CATCATCTGG GGTATACCAT GGTTCATAGG CAGAGATTAT CAGTATGATT
17250
TGGGTAGAAA GTATAAGAGA CAGCAACTTC AACTACCACT TCCT
A
CTCAT
17300 |
var(17295):[G:0.03]
CTACTTCTCT TTGAAAGCTA CAGCTATGCT TTGTATACAT TTTTTATCTG
17350
AATTCTGTTC AGATAAAACA TTTTA
T
TATT TACATTTATT TTTA
T
A
A
T
A
A
17400 |
var(17376):[C:0.01]
|
var(17395):[:0.01]
TAATAACATT ATTATTAATG TTATTTACAT TTATTTAGGT AATTACCTGA
17450
CAGTGTCTTA AGTGGCAGAT ACTACTATGT CTGATTTACA TGGGTCACTG
17500
AAAACAAGTT TTTTTTG
T
T
T
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
T
T
G
G
A
G
17550 |
REPEAT
A
C
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
C
G
A
G
A
T
C
T
C
G
G
17600
C
T
C
A
C
T
C
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
T
G
C
T
G
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
17650
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
T
C
T
G
C
C
A
C
T
G
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
17700
T
GAAAACAAG TATTTTGTTT CAGTGTGTCT AGTTGTTATA CTTAGGACTT
17750
TTTTTCATGT TCATTAAAGA TCGAAGAAAG CCAAACTTTG ACCTGTCACT
17800
AGGCAGCATT TGTGTCATAT TTATCCTAAA TTTATATGAA TCTTGGCTTT
17850
TGTTGGTTTT GTCTTCTTTA TATATTTACT GGCTGTCTCT CAATTTATAG
17900
180
A
A
C
A
C
G
A
G
A
C
C
A
A
T
G
G
T
G
T
G
G
C
A
A
A
G
A
G
T
G
A
T
C
A
G
A
A
A
C
A
A
G
A
A
C
A
G
C
T
G
17950 | Exon 8
E H E T N G V A K S D Q K Q E Q L 197
T
T
A
C
T
C
A
A
G
A
A
G
A
T
G
T
A
T
T
T
A
A
T
G
C
T
T
G
A
C
A
A
T
A
A
G
A
G
A
A
A
G
GTAGT
T
AT
18000 |
var(17998):[A:0.01]
L L K K M Y L M L D N K R K 211
TTACTTTCCA GAATAGCATG CCACTTTTGT TAT
A
CACTGT AAATAATGGA
18050 |
var(18034):[G:0.09]
CTCAAAGTTT AGAAGAGAGG AAAAATTATA GCCACCTGGC TTAGAGCCCC
18100
AGTTGAGAAT GAAATGATAT TTGCTTTTCT TTTAAAAAAT ATTTTAAA
A
T
18150 |
var(18149):[G:0.03]
TCAGTGATTA AAAA
T
GAATT TATTTCACTT TGTTT
C
TTCT ATTGCCTTTA
18200 |
var(18165):[G:0.01]
|
var(18186):[T:0.01]
G
G
A
A
G
T
A
G
T
T
C
A
C
A
A
A
A
T
A
A
T
A
G
A
G
T
T
G
C
T
G
A
A
T
G
T
C
A
C
T
G
A
A
C
T
T
A
C
C
C
18250 | Exon 9
E V V H K I I E L L N V T E L T 227
A
G
A
A
T
G
C
C
C
T
G
A
T
T
A
A
T
G
A
T
G
A
A
C
T
A
G
T
G
G
A
G
T
G
G
A
A
G
C
G
G
A
G
A
C
A
G
C
A
G
18300
Q N A L I N D E L V E W K R R Q Q 244
A
G
C
G
C
C
T
G
T
A
T
T
G
G
G
G
G
G
C
C
G
C
C
C
A
A
T
G
C
T
T
G
C
T
T
G
G
A
T
C
A
G
C
T
G
C
A
G
A
A
18350
S A C I G G P P N A C L D Q L Q N 261
C
T
G
GTAAGAT TCTCCAAAGC AGAAAACTGG CAGCTGACTG GCTAACCACA
18400
W 262
TAAACACATA AATGTACCTT TGAGCTGTGT TAGTTGAATG GACCCTGTCA
18450
AAACATTAGT ATAGAGTTTG ACATAGTCCA GCTTCT
G
CTT ACCCTGGAAA
18500 |
var(18487):[A:0.01]
CACTCCCTTG GAAAGCACAG TGTTATTCAT GACTCT
C
GCC ACGTTCAGCC
18550 |
var(18537):[T:0.08]
ACGTCTGCTT GGTTTGGAGC ACTCCTGTAC CATGGGGTGT CGTTTGACTG
18600
TACAAAACAT CAGTGACATG GTCGTTATAG AACACATTTA ATGACTTGAC
18650
TCTTAATGTT TCCTTAAAAA CAAGATAGCT TGAGGCATTT TTCTAGGCTT
18700
ACAGAATAGT TTTTTAGGAA ACATTCAG
T
C
A
T
C
C
A
T
C
C
A
G
T
A
A
T
A
C
T
T
A
T
18750 |
REPEAT
T
A
A
A
T
G
C
C
T
A
C
T
G
T
G
T
G
C
C
G
G
G
C
A
C
T
G
T
A
G
G
A
C
C
T
G
G
G
C
A
C
A
C
A
A
G
G
A
T
G
18800
A
G
T
G
A
T
T
C
T
T
G
G
C
C
C
T
T
G
C
C
A
A
C
A
A
G
G
A
G
T
T
C
T
C
A
G
T
G
T
G
G
A
G
G
G
G
G
G
G
A
18850 |
var(18844):[T:0.04]
T
G
T
A
G
A
C
A
T
G
G
T
A
A
T
A
A
T
T
C
G
T
G
T
G
G
T
A
A
A
A
G
T
A
T
C
C
A
G
G
T
G
C
T
C
T
A
G
C
A
18900 |
var(18852):[A:0.01]
A
A
A
G
G
C
C
A
T
C
A
G
A
A
T
T
C
T
G
T
G
G
A
G
G
A
C
A
A
A
G
G
A
A
A
G
C
A
T
C
T
C
C
A
G
G
G
A
A
G
18950
G
T
T
T
C
A
T
A
G
A
G
G
A
A
G
T
G
G
C
C
T
T
G
T
G
C
T
G
A
C
T
C
A
A
A
A
G
T
C
A
C
T
A
G
G
A
T
T
A
C
19000
T
C
C
A
C
G
T
A
G
A
T
C
A
A
G
G
G
G
A
A
G
T
G
C
T
T
T
C
C
A
G
C
A
C
A
G
A
G
C
A
C
A
G
C
G
T
G
T
G
C
19050 |
var(19044):[T:0.01]
A
A
A
G
G
C
A
C
A
C
A
T
G
T
G
G
G
A
G
A
C
T
G
C
A
G
G
G
G
C
T
G
T
A
T
T
G
G
G
T
G
G
C
T
G
G
A
G
A
G
19100
T
G
G
G
G
T
G
T
C
C
A
G
G
G
A
G
A
T
G
G
G
A
A
G
G
A
A
A
G
T
G
G
A
C
C
C
G
G
T
G
G
G
A
G
ATGCTG
19150
GAGCCTGATG GTGCAGGTTC TCAGCACCAT GCT
G
GGAATG GGGGATGTAC
19200 |
var(19184):[A:0.11]
GCAGCTGTAC TGCTGAGCCA AGGCAGGCTT TTTTCTTAAG CAGGAGATGT
19250
ATTTCTCTGA TCTTTGATTT AGAAAGGGCA CTCTGGCCAC AGCCTGGAGG
19300
ATAGGATAGA GACAGAAAGA CCAGTTGGAA TACTATTAGC ATATTAGTGT
19350
GGTCCAGGTG AGGGGCAACA GGAGCTGAAC TTGGAATCAC AGAGTGAACA
19400
TGAGGGAAGG TGGCCTGGGA CAATTGCTAA GGGTCCAAGG ACCAGAGATC
19450
TCACGAGGTT ATTTTCTATA TTGCCAGTTT TTAAAAAAAT CACAATTAAT
19500
ATTCAGCCAT TTATTTTTGT TCTGTGAATT GCCTGTAGGT ACCCCAGATT
19550
TCTTGTG
G
GT TAGAGCAGAG CTTCTGAGCC CAGTGCACCC CATGTGCCTT
19600 |
var(19558):[A:0.10]
GAGGGATACA TACAACCCTA AAGCCCTTCA GGTGGCCAGG GAGGCCCTGG
19650
GGTGTTTAGA GCCCCCTAGT GGTCCTCCTA GACCACAGGA GCCTCTTGTA
19700
GGGACACACA TGCCCTCTAG TTTTCCCACT GTGCTGTCAT TTTCTCTGTG
19750
TGCAA
G
CAGA GTTGGGGACA CTGGTTTAGC TTCTCCGCTG GAACTCAGCC
19800 |
var(19756):[A:0.01]
AGCCGTTATC CTGCCTTCTC CTTTCCTGAC GAAGGGCTGC TGTCCCAGGG
19850
CTTTGAACTG GAATCGAGCA AAATCAGAAA GTGAAGTAGA TACTTTTCCC
19900
A
GGGAAGAAG AC
A
C
T
T
T
T
A
A
A
A
G
G
T
T
T
T
C
T
T
C
T
G
T
C
A
T
T
A
C
T
G
C
A
A
G
T
G
A
19950 |
var(19901):[G:0.04]
|
NOT SCANNED
A
T
A
A
A
A
C
A
G
C
G
T
T
T
C
C
C
C
A
G
C
C
T
G
T
G
T
T
G
C
T
G
T
T
A
G
C
A
G
T
T
G
A
C
T
G
C
A
A
G
20000
G
A
A
G
G
A
A
G
A
C
T
A
A
G
A
G
C
A
A
T
C
A
C
T
G
G
G
T
T
T
A
C
T
C
A
T
T
G
G
C
T
T
T
T
T
A
T
G
T
T
20050
T
A
G
G
G
T
C
T
A
G
A
C
T
G
A
G
C
A
T
A
C
T
G
C
C
T
T
C
T
C
C
T
T
T
C
A
G
T
T
G
A
G
T
G
A
A
A
C
C
A
20100
G
A
A
T
C
A
T
C
A
T
T
C
C
T
T
C
C
T
C
T
C
T
T
C
C
T
G
T
C
C
C
C
G
G
C
C
T
T
G
T
C
T
C
C
C
A
T
C
T
C
20150
T
G
T
C
T
C
T
C
C
T
C
C
T
G
C
C
C
C
T
C
T
G
C
C
C
C
A
C
A
T
C
T
C
T
G
A
C
T
G
G
T
C
C
T
G
C
C
G
A
G
20200
A
C
A
C
T
G
C
T
T
G
C
T
G
A
T
G
C
C
A
C
T
C
T
C
T
T
G
A
C
A
G
A
A
C
C
T
G
C
A
G
T
G
G
C
T
C
T
T
T
G
20250
C
T
G
C
C
T
C
T
T
G
C
A
T
C
A
C
C
T
G
G
A
A
G
C
A
C
C
T
G
C
T
T
T
G
C
T
G
T
T
T
T
C
C
C
T
G
C
C
T
C
20300
T
G
G
C
C
T
C
C
T
C
T
T
T
G
C
C
C
T
G
C
A
C
C
A
G
T
C
A
C
A
G
A
T
C
A
C
C
T
A
G
A
A
G
C
C
C
T
G
C
C
20350
T
C
C
A
C
C
C
A
T
C
T
C
T
C
C
T
C
A
C
A
T
A
G
G
C
C
T
C
A
G
T
G
G
T
G
T
G
T
A
G
A
A
G
T
T
T
T
T
G
A
20400
T
G
T
A
G
G
C
T
G
T
A
A
T
C
A
T
T
C
A
G
T
G
C
A
T
G
T
T
A
G
T
T
G
T
A
C
T
C
C
T
C
A
A
A
T
A
A
C
A
A
20450
A
G
C
T
T
C
T
A
C
T
G
C
T
G
G
C
A
C
A
A
G
C
C
T
C
G
T
T
C
C
C
T
T
T
G
T
T
T
T
T
C
C
C
T
A
G
A
G
G
G
20500
C
A
G
A
G
C
A
T
G
G
C
A
T
C
C
T
A
G
G
T
G
A
C
A
T
T
T
T
G
T
G
T
T
G
C
A
T
A
T
A
A
C
C
A
CTTGTT
20550
GGTTTCCATG CC
A
T
A
T
G
G
T
T
T
G
G
C
C
G
T
G
T
C
C
C
C
A
C
C
C
A
A
A
T
C
T
C
A
C
C
T
T
G
20600 |
REPEAT
A
A
T
T
G
T
A
A
T
A
A
T
C
C