CHRNA4 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
CTTCCTAAGC AGAGAGCCTC ATGGGCTGTG CCGCAGGGAG CGGG
G
GTGGG
50 |
var(45):[A:0.38]
GTTCTGTGAG TGGGTCAGAG GTCAGAGGTC AGCAGGCTGC CCTCACGGGG
100
CCTCGGGGGA CTTTGCTCTT CTCCCCTCCC TGTGTTTACC AGCTGCTTGC
150
TCAGCCCAAA TATCCATCCA GCTTGGAACC TTCTAGTTCC TGGCACAGAA
200
CTGGCCCATG GAGGGGCTTC ATGTAGGCCA GAAGGACCAG GGTCTTGCAC
250
TGCCCAGGGG CTTGGGAAGA GCAAGGAGAG GAGGAGGAGG AGAGGGAATC
300
CTTCCTTGGG GGACTTCAGT CTGCCTAGGG AAACAGGCCC TTGAAACCAT
350
CGAGGGTTGG ATCTGCAGGG TGGTCTGAGG GAGAGCCGTC AGCAGGGTGG
400
GTGGCAGACA CCCATGGCTC CAGGAAAGAG TTCAGGAAAG TAGAC
C
TGGG
450 |
var(446):[T:0.38]
ATCTCCCAGG AGGCTGTCCC AGTGAGGGCA CGTCAGCCCA AAACTACATC
500
TGAGGCCAGC AGGAGGCCG
G
G
G
T
G
C
A
G
A
C
C
C
T
A
A
A
G
C
C
A
G
A
T
G
G
C
C
T
G
G
G
550 |
REPEAT
|
var(545):[T:0.09]
T
T
G
G
A
A
T
C
C
C
A
G
T
A
C
T
G
A
C
T
G
T
G
A
G
C
T
T
C
G
G
C
A
A
G
T
C
G
C
T
C
G
G
C
C
T
C
T
C
C
600
G
C
A
C
C
T
G
T
G
T
T
A
T
C
T
C
T
T
T
G
G
T
A
A
C
G
T
A
G
G
G
A
C
A
A
T
T
G
A
A
G
A
G
G
C
C
A
C
C
T
650 |
NOT SCANNED
C
A
A
G
G
G
G
G
C
C
G
T
G
G
A
A
G
T
G
C
A
G
G
G
G
G
T
C
C
C
T
G
C
A
T
C
C
A
G
C
T
T
G
C
T
T
G
G
A
C
700
C
A
G
C
A
T
G
T
G
G
G
A
A
G
G
C
C
A
C
A
G
A
A
G
C
A
G
G
G
C
A
G
G
T
G
T
T
G
T
C
G
C
T
G
G
A
C
C
A
G
750
G
C
A
A
T
T
C
A
G
G
A
G
G
G
C
A
G
T
G
T
C
G
T
C
G
T
T
G
G
A
C
C
A
G
C
C
A
C
T
G
T
G
C
A
G
C
G
G
C
T
800
G
T
G
T
G
T
T
C
T
G
A
A
A
G
C
T
C
T
A
A
T
T
G
T
A
G
G
C
A
C
T
G
C
C
C
A
C
A
G
A
G
C
G
G
A
C
A
G
A
C
850
A
G
C
T
C
T
G
G
C
C
A
G
T
G
A
G
G
A
A
G
A
G
C
T
C
C
T
G
C
C
C
G
T
C
C
C
A
A
A
G
C
A
G
G
T
G
T
A
T
G
900
A
G
G
A
G
C
C
A
T
G
A
G
C
T
C
A
A
C
C
T
G
G
A
A
C
C
A
G
A
G
G
T
G
G
G
C
AGGG AG
C
GGGGAGA
950 |
var(943):[G:0.14]
G
A
GGTGGGCA GGAGCAGTGG CTGCTCAGGG AAGCTGGGGG GAGGAGGAGA
1000 |
var(952):[G:0.15]
AGGAAGGT
G
G GGGGTAGGGA CAGGGGAGAT GGGAGAG
G
CG ATGGGAGGGG
1050 |
var(1009):[A:0.06]
|
var(1038):[:0.31]
CAGGAGCTGT AGGGCTCCA
G
AGGCCTGTGC TGGAGAGGGG GTTGCTGCAG
1100 |
var(1070):[A:0.09]
GGAACTCCTG ACGGAGCCCC CTCGCCCGAC CAGCAGCCTT GCAGCCTTGG
1150
AGGGAGGGGC GTGAATGCGG AGGGTCACCG GACCTCTCCA GCCCCTTCTG
1200
CTCTGCCTTC CATTACCGAC GACGGAAATC TCCGTTTTCG GGGGCTGTGT
1250
CCCAGCTGCA GAGCCTGAGG CTGGGCCAGG GGCGCGGCTA CAGGGATGGC
1300
CGGGTCTGAT GTTTCTGCAG AGCCT
T
G
C
CC TCTCCTCCTG CACACGAGAT
1350 |
var(1326):[C:0.40]
|
var(1328):[T:0.01]
TCAGCCGCAC AAGGCGCCCC TCCTCCAACG CACCTGCTGC TCTGTGGGCG
1400
GCCACCTCGG CACCCACCTG AGGGCGGGGC CCCTCCCTGG GGACCGTGCG
1450
CCTGGGCTCC CCTCTGGACG CCTCTTGGGT CTC
G
GCGGAG GTACCAGGGA
1500 |
var(1484):[T:0.10]
AGGCGGGGGC TGC
A
G
G
C
G
G
A
C
A
G
A
G
A
G
T
C
C
T
G
A
A
C
G
G
C
T
C
G
C
T
G
G
G
G
A
A
C
1550 |
NOT SCANNED
A
A
G
A
C
C
A
G
A
G
A
C
G
C
G
A
T
T
T
T
C
A
G
G
C
T
G
C
A
G
A
C
A
C
C
G
G
C
T
G
G
C
G
C
G
A
T
G
G
A
1600
G
T
A
A
C
C
C
A
G
A
T
G
T
G
C
T
A
G
G
G
G
T
G
C
C
C
C
T
C
C
T
T
G
C
G
C
C
G
G
A
T
C
C
C
C
T
A
G
A
T
1650
G
T
G
C
C
C
C
C
C
A
C
C
C
C
T
G
C
A
G
G
C
A
G
G
G
A
G
C
G
G
G
C
G
C
C
C
A
G
G
C
T
G
G
A
G
A
T
G
T
G
1700
G
G
G
A
G
G
G
A
G
G
T
C
A
G
A
C
T
G
A
C
T
C
C
G
G
G
A
C
C
C
C
C
C
A
G
T
C
G
C
A
C
T
C
A
G
T
G
A
C
C
1750
C
C
G
G
G
G
T
C
C
C
C
G
T
C
C
C
C
G
G
C
T
C
A
G
G
C
A
C
G
T
C
T
C
G
A
A
C
C
C
C
A
G
G
A
G
A
A
C
A
A
1800
G
G
A
A
A
C
T
T
T
A
C
C
C
C
C
G
C
C
C
G
G
G
G
C
C
C
A
G
C
G
C
A
G
C
C
T
C
C
C
C
G
T
C
C
C
C
C
T
G
G
1850
G
C
G
C
G
C
G
G
T
C
C
A
T
C
C
C
T
G
C
T
C
A
T
T
C
T
C
C
C
T
G
G
C
C
C
T
T
G
C
T
C
C
C
T
C
C
T
C
C
C
1900
T
T
T
T
C
A
C
T
C
T
C
C
G
T
T
C
C
C
T
C
C
C
C
C
T
C
C
C
C
T
G
C
T
C
C
C
C
C
T
C
C
T
C
C
C
C
C
C
T
C
1950
C
C
C
T
G
C
T
C
C
C
C
C
T
C
C
C
A
G
C
C
G
G
C
T
G
A
G
G
C
G
G
G
C
A
G
G
G
C
C
G
G
G
C
G
G
G
G
C
C
G
2000 | Exon 1 |
UTR
C
G
C
C
A
C
G
G
A
G
C
C
C
A
C
A
G
C
C
C
G
G
C
G
C
T
C
C
C
T
G
C
C
G
C
G
C
C
G
C
C
G
C
C
G
C
A
C
C
G
2050
C
G
C
C
C
C
A
C
A
G
G
A
G
A
A
G
A
C
G
A
A
C
C
G
G
G
C
C
C
G
G
C
G
G
C
C
G
A
A
G
C
G
G
C
C
C
G
C
G
A
2100
G
G
C
G
C
G
G
G
A
G
G
C
A
T
G
A
A
G
T
T
G
G
G
C
G
C
G
C
A
C
G
G
G
C
C
T
C
G
A
A
G
C
G
G
C
G
G
G
G
A
2150
G
C
C
G
G
G
A
G
C
C
G
C
C
C
G
C
A
T
C
T
A
G
A
G
C
C
C
G
C
G
A
G
G
T
G
C
G
T
G
C
G
C
C
A
T
G
G
A
G
C
2200
M E 2
T
A
G
G
G
G
G
C
C
C
C
G
G
A
G
C
G
C
C
G
C
G
G
C
T
G
C
T
G
C
C
G
C
C
G
C
T
G
C
T
G
C
T
G
C
T
T
C
T
G
2250
L G G P G A P R L L P P L L L L L 19
G
G
G
A
C
C
G
G
C
C
T
C
C
T
G
C
G
C
G
G
T
A
A
G
T
T
A
C
G
G
G
G
C
G
C
G
G
G
A
T
G
G
G
C
C
C
C
C
T
T
2300
G T G L L R 25
T
C
G
C
C
C
G
C
G
T
T
C
G
G
A
T
G
G
C
C
T
G
G
G
A
C
C
C
C
C
A
G
A
G
C
C
A
G
A
G
G
G
A
G
G
C
A
G
G
C
2350
T
C
C
T
G
A
C
T
G
C
G
G
T
C
C
C
A
A
G
C
C
G
C
G
G
G
T
G
C
G
C
G
C
G
A
C
T
G
G
G
C
G
A
C
C
G
C
G
A
G
2400
G
C
T
C
C
C
C
A
T
C
C
C
C
A
G
C
C
G
C
A
C
A
G
G
C
T
G
C
G
C
T
C
G
C
A
C
C
C
G
G
G
C
T
G
A
G
C
C
A
G
2450
G
C
G
A
G
G
A
G
G
G
A
G
T
T
G
A
C
C
G
C
C
G
G
C
G
A
A
T
G
C
G
G
A
G
G
G
C
T
G
G GAAAGGGGCT
2500
TTCCGCGGGG TGTGGGGGGT TCCGCTGCTA TTTCAGGGCT GGCCCCAAAA
2550
GCTCGAACTT GAGCAGAGGT GGGGCCACCT TCGCCCTTCC CCCATCCATC
2600
CAGCTAAATT TCCCTGAAGA CCCCCATGCC TGCTTCCTCC GGTTTAGGGG
2650
ATCAGAGGGG TGGCCTCTGC CCTTGGCGGC CGCCACCCAC CTTTTCTGCA
2700
GGAAG
A
ACAA GGTCGCGGGT GGGGACTCTG GGCTGGGAGT CAAGGCTCCC
2750 |
var(2706):[G:0.24]
AGGGGTGTAG AACTGACCCC TCCCCCTCCC CGAGTCCTGT CTGCGCTCTC
2800
AGGCCAGCGG GACCCACCAG GGAGGTGGAG GTCTCCCC
C
T CCGCCCAGAC
2850 |
var(2839):[G:0.01]
CCGCCCCTTA TGGCAGCGCC CAGGACA
G
GC GGGGAATGCC TCAGATCCTG
2900 |
var(2878):[A:0.02]
GGGCCCCGGA CCTGGAGCAC AGATGGACCT AGGGCTGTGC TCCTCCAGAG
2950
CGACTCATCA GGGGCGTTCT G
G
GTCTGCCC AACAGCACGG GCAGGCTGGG
3000 |
var(2972):[A:0.01]
GTGCGGAGGG GGCTGGCACC TCGTTGGGGT CTGCATCTGA AACACTCCT
C
3050 |
var(3050):[G:0.02]
GGGCATCAGG GGATTGATGA ACCAGGGGAG GTTCCGTAGG AAGCGGGCGC
3100
TTGTGGGGGC CCGATCCTCC TTCCCCTTCC TCCCTCTTCC TGCCTGGGCT
3150
GGCCCCGCTG CCCTGTACTC CCTCCTTTGC TGCTGTTACC CCCGAGTGTC
3200
CTCTGACTCG CCAGCTGCTA GAGACACAGC CCTTCCCTGG AAGTCAGTGT
3250
GACAGGAGAC CCAAAGCAGT CCTCGGCCCA TCCGCCGCCT GGTTTTGTGG
3300
TGCGGTCAAG GTGCTGGGAA GGCCTCCGTG GGCTGAGGGG CCTGGGAAGC
3350
TTCCCC
G
AGG AAATCACAAT TACACCCAGG GGTGGGAGAG AGCCGGAGGC
3400 |
var(3357):[C:0.11]
CAAGAGAGG
G
CAGCGCACGC CACGCCCGGC ACACACACAC ACACACACAC
3450 |
var(3410):[T:0.08]
ACACACACAC AGCACACGCC CGGCACACAC ACACACACAG AGCGCACGCC
3500
CGGCACACAC ACAGGTCCTG GGGTGGGAAG GGCTCATGTG AGGAGCTGAA
3550
AGGAAGTGGA CGTGCTGGG
C
AGGGGGCTGG GGCAGCCTGG AGAGCTCCTG
3600 |
var(3570):[T:0.32]
GACAGCTCCC GGCTCCTGTC CCGCCTGCAC CTGAGCCACT GGCCTGCCTC
3650
TCCCCGCAG
C
C
A
G
C
A
G
C
C
A
T
G
T
G
G
A
G
A
C
C
C
G
G
G
C
C
C
A
C
G
C
C
G
A
G
G
A
G
C
G
G
3700 | Exon 2
A S S H V E T R A H A E E R 39
C
T
C
C
T
G
A
A
G
A
A
A
C
T
C
T
T
C
T
C
C
G
G
T
T
A
C
A
A
C
A
A
G
T
G
G
T
C
C
C
G
A
C
C
C
G
T
G
G
C
3750
L L K K L F S G Y N K W S R P V A 56
C
A
A
C
A
T
C
T
C
G
G
A
C
G
T
G
G
T
C
C
T
C
G
T
C
C
G
C
T
T
C
G
G
C
C
T
G
T
C
C
A
T
C
G
C
T
C
A
G
C
3800 |
var(3772):[T:0.09]
N I S D V V L V R F G L S I A Q 72
T
C
A
T
T
G
A
C
G
T
G
GTAGGTGAG GGC
G
TGGCCA TC
G
TG
C
G
CTG TGACTGAGGT
3850 |
var(3824):[A:0.01]
|
var(3833):[A:0.09]
|
var(3836):[A:0.01]
|
var(3837):[A:0.10]
L I D V 76
CGCCCTGCAA GGAGCACAGG GGTCTGGGTG GGCAGAGGGG ACACAGCCAT
3900
CAACACTCCC CGTGGCTGTG AGTGTCCGGC CCGGGCTGGT ACGTCAGAAC
3950
GACAGCCACC AGCTCTGCCC CGCCTGAGC
C
CCAGCCAAGG GTTGATTCAG
4000 |
var(3980):[A:0.02]
AGCGTCCCAG CCAGGCCCTG CCCTTTCCTC CCCCTTGACG TGGGAACACT
4050
CCAAGTGGCC AGGTTCTCAG TACAGAGCCC AGGCACCTTC GGAAGCAAAG
4100
AACAGCAAAG GCCTTGCTTG GGGGTGG
C
GG GGCACGCTGT GACCTCGGAG
4150 |
var(4128):[G:0.10]
CAACAGGGAC AACC
G
GCCGG GGCAGGGGCC GGGGCAGGAG CAGGCACTGT
4200 |
var(4165):[A:0.01]
GGTGTCCCGG CAGCACCCCA ACCTTAGCTG GCCCCAGAGG CCCCTCACCC
4250
ACAGATCTGG AATGTGGGGT TTGGGGGAGT CTTGGGCGAG TTCTGTTTG
T
4300 |
var(4300):[C:0.05]
CTGAAGTATG TTTCCTTTCT GGTGGGGGGC CCAGGAGGCT GCTGGGAGGA
4350
AGCCTACTGG TCCAGCCAGG CCCCTGCAGC GTGGGCCAGT GCACATGGAG
4400
CCCCAAGGCA GGGATAGGAA CCAGGAGGCT TCGAGGCTGA GAGAACTGAG
4450
CTGCGGGAGG CTCGGCCTTG TGCTCGGTTG AGATGCTTGG TTACCTACCC
4500
AGGCCTGAGC CAGACTGTCT GGGGGTCTC
G
GCGGCCCTGG AGGGGCCGGG
4550 |
var(4530):[A:0.09]
TAAGGGGCAG CAGAGACATT TCCACGTTTC CCAGCCAGGC TCAGCCACTC
4600
CAAATGGGGT GAGACCATCC CTCAGGGTAC CTGGCTGGGT GGGGGTGCAT
4650
AGCCTGGGGG CTGCCACCAT GGAGGAGGGC AGGTTGGGCA GGCCATGGTC
4700
TCTGGGAGCT GGCCCACTTG CGAGTGGGCA GCCAATGGCC AGCTGAGCTG
4750
CAGGGGCTCG TCTTCCACAC TGAAGTCCGC CAGCTCCAGC CCTGCTGCCA
4800
AATCCCAGCT CGCTGGTCCA GGGAGGGCAC CCCCACATGG GGAGGCATTT
4850
GTATGCTGTA GAGGCCCAGC CCACACCTTG CCAGGATGCC AAGCCTGGGT
4900
CTGCCGCTGA GGGAGGAGCC ACCGGGTTGC GGGAGAATTT CCTCTCTTTG
4950
GGAGGCTG
G
T GCCGTGCGTG TTGGGTAACC CTGGGCCTGG GGCCTGTGAA
5000 |
var(4959):[A:0.09]
ACGGGGTGAG AGCTGCTTCA CTATCCCAGG CTGAGTGGGC CACACCCCAG
5050
GGG
C
TTTTGG GAGGTGTGGG GAGCTGCAGC CACATTCCCG CGGACAGGCT
5100 |
var(5054):[G:0.02]
GCTCAGTGGT GGCAGTTGCC CATGCAGGGC AGC
G
CATGGA GACTCCAGTC
5150 |
var(5134):[A:0.09]
AGCCAGCCCC GTCCAGGGTT GGCCACCCAG ACCTCCAGCC TCAGTGTCCT
5200
GGAGCTGCCC
C
TGAGTGGCT CCTGTGGAGT GTCCCTGGCG GAGGCCCAGC
5250 |
var(5211):[T:0.09]
CAGAAGACAA TGC
G
GGTTGC ACAGGCTTGG CAAGCCTGCT GAGGTTTGCA
5300 |
var(5264):[A:0.01]
AACACGGCTG CAAAGTG
A
TA GCTGGCAGAG GCGGCCGCTG GCAGCTGCCC
5350 |
var(5318):[G:0.10]
AAGGCTCTGG GTCTGCCACC CCC
C
ACCTGG CTGCCTACCT GAGCTTCTCA
5400 |
var(5374):[T:0.05]
GGGCTCAATC CATGGCTCCC TACGCCACCA CAGAGTCCCC AGTTTGCCCA
5450
GGAGACATTG AGGCCTGGAG CACACCCAGA ACCAAGACTC CCAGAGCTGC
5500
CCACCCCTCT CTCCACCCTG CAGCCGACTA AGGACTTACA CGAACATGCA
5550
CACGTGGGTG CTGACGCTCC TGGGTGCCCA AGGCCGAGGG CCACGTGTGC
5600
A
CGGAAGGGG CTGCCTGATG CTCCTGGGTG CTGGCCTAAG GCTGAGGACC
5650 |
var(5601):[G:0.10]
ACGTGTATGT GGAAGGGGCT GCCTTGTGTC TGGCCCACTC TG
C
C
C
G
T
C
C
C
5700 |
NOT SCANNED
A
C
C
A
G
G
G
G
C
T
G
G
G
G
A
T
T
C
A
C
C
T
G
T
G
C
C
C
C
C
T
T
T
G
C
G
G
G
C
T
C
G
G
A
T
A
C
T
T
G
5750
T
T
A
T
A
G
G
T
G
C
C
A
T
C
A
C
C
A
G
G
G
T
C
T
G
T
C
C
T
G
G
A
G
G
G
G
A
G
G
G
C
T
T
G
T
G
A
G
C
T
5800
G
C
A
C
G
T
G
T
G
A
G
C
T
C
A
G
G
C
C
C
C
A
G
G
A
C
T
G
G
C
T
G
C
A
G
A
G
G
A
G
G
G
T
C
T
G
G
A
A
G
5850
A
C
C
C
A
G
T
G
C
T
T
T
T
C
C
A
A
C
C
A
G
C
C
C
A
G
G
C
C
A
G
T
G
C
T
G
A
G
T
G
G
T
G
G
T
G
A
A
A
T
5900
G
T
G
C
A
G
T
G
T
T
G
A
C
C
T
G
C
C
C
T
C
C
A
G
C
T
T
C
A
A
G
G
G
C
G
A
C
T
G
A
G
A
A
T
G
A
C
G
G
C
5950
T
G
C
A
A
G
G
G
G
G
T
A
G
G
G
C
A
C
G
A
C
A
C
T
G
G
G
C
A
G
G
A
G
G
G
C
C
A
G
G
C
C
T
G
G
C
C
A
C
G
6000
T
G
A
A
G
C
T
G
G
T
T
C
T
G
A
G
G
A
C
C
C
T
G
G
A
G
C
T
T
C
C
T
C
A
G
A
C
A
C
A
C
G
G
G
A
T
G
A
G
G
6050
T
C
C
T
G
A
G
G
G
G
A
T
G
A
G
G
T
C
C
T
G
T
G
G
G
G
A
G
A
T
A
T
G
G
C
C
C
T
G
C
A
C
G
G
A
G
A
C
A
T
6100
G
G
T
C
T
G
T
G
G
G
G
A
C
G
T
G
G
T
C
T
G
T
G
G
G
A
C
G
T
G
G
T
C
C
T
G
T
G
G
G
G
A
C
A
T
G
G
T
C
A
6150
G
T
G
G
A
G
A
T
G
T
G
G
T
C
C
T
G
T
G
G
G
T
T
G
T
G
G
T
C
C
T
G
T
G
G
G
A
A
T
G
T
G
G
T
C
C
T
G
T
G
6200
G
A
G
A
C
G
T
G
G
T
C
C
T
G
T
G
G
G
G
A
C
A
C
G
G
T
C
C
G
T
G
G
A
G
A
C
G
T
G
G
T
C
C
T
G
T
G
G
G
A
6250
A
T
G
T
G
G
T
C
C
T
G
T
G
G
G
G
A
T
G
T
G
G
T
T
C
T
G
T
G
G
G
G
A
C
G
T
G
G
T
C
C
G
T
G
G
A
G
A
T
G
6300
T
G
G
T
C
C
T
G
T
G
G
G
T
T
G
T
G
G
T
C
C
T
G
T
G
G
G
G
A
C
G
T
G
G
T
T
C
T
G
T
G
G
G
G
A
T
G
T
G
G
6350
T
C
C
A
T
G
G
A
G
A
T
G
T
G
G
T
C
G
G
T
G
G
G
G
A
C
G
T
G
G
T
C
C
T
G
T
G
G
G
G
A
T
G
T
G
G
A
A
G
G
6400
A
G
G
T
G
G
G
T
G
G
G
G
T
G
G
G
T
C
G
G
A
A
G
G
G
G
C
T
G
G
G
G
T
G
A
G
T
G
G
C
C
C
A
G
C
T
G
C
A
C
6450
A
C
A
G
T
G
A
C
C
T
T
G
A
G
T
G
A
C
A
G
G
T
C
C
C
A
C
C
T
G
C
T
C
A
G
G
T
C
A
T
G
A
G
G
C
A
C
A
G
T
6500
C
C
T
G
G
A
G
G
G
G
C
C
A
C
C
C
T
G
G
C
C
A
G
C
A
G
T
G
G
A
A
C
C
C
A
C
T
T
A
T
G
T
G
C
C
A
G
G
G
G
6550
C
A
G
C
T
T
T
G
C
T GGCTGTGTGT GCCCACATGG GGGCCTTGTC TGCAGAGGGG
6600
CTGCCCCCAA GGGCCGGGAG GGAGCAAGGC AGGTGGGCAG AAGGAGGCTC
6650
C
CCATGCCCG CCACACCTGT CCTTAGCTGG GGAAGCCTGT GAGGCCGCCG
6700 |
var(6651):[T:0.32]
ACTCCTCTCC AGTTTCCTGC TGGAGATGTT TGTGGCCTTG TCCCCACATC
6750
CCTAGGTCCC CTCAGAGTCC CCATCCTGGG C
T
CGGCTGCC TCCAGGGACG
6800 |
var(6782):[C:0.02]
GGGCACTCAC CCCCTCCACA GGTCGCCCGT CCACCATATC TTGCCCTGGC
6850
CGTGTCCTTG TGCCAGTGGC TGTAGATGAG GAAACCTAG
G
GCCAGAGAAA
6900 |
var(6890):[A:0.09]
GACACCAAGG GGTCACTGGC CCCCTTCCTC TCTCGGTGCC CTAG
G
A
T
G
A
G
6950 | Exon 3
D E 78
A
A
G
A
A
C
C
A
G
A
T
G
A
T
G
A
C
C
A
C
G
A
A
C
G
T
A
T
G
G
G
T
G
A
A
G
C
A
G
G TGAGTGGGAG
7000
K N Q M M T T N V W V K Q 91
GGCACTGCCC TGCCCCACCC CTGCCCTCCC CCACACCCCT CACCCTGCTG
7050
CCCTGTCCTG GCCCTGCCCC ACCCTGGCCC TGCCCCACCC CTGCCCTCCC
7100
TCACACCCCT CACCCTGCTG CCCCACCCTG GCCCTGTCCC GCCCCTGCCC
7150
TCCCTCACAC CCCTCACCCT GCTGCCCTGC CCTGGCCCTG CCCCTGCCCC
7200
ACCCTGGCCC TGTCCCGCCC CTGCCCTCCC CCACACCCCT CACCCTGCAG
7250
CCTCCCCCCG CCCCACCTCA TCCAG
G
A
G
T
G
G
C
A
C
G
A
C
T
A
C
A
A
G
C
T
G
C
G
C
T
7300 | Exon 4
E W H D Y K L R 99
G
G
G
A
C
C
C
A
G
C
T
G
A
C
T
A
T
G
A
G
A
A
T
G
T
C
A
C
C
T
C
C
A
T
C
C
G
C
A
T
C
C
C
C
T
C
C
G
A
G
7350
W D P A D Y E N V T S I R I P S E 116
C
T
C
A
T
C
T
G
G
C
G
G
C
C
G
G
A
C
A
T
C
G
T
C
C
T
C
T
A
C
A
A
C
A
A
GTGAG TCCTCTACAA
7400
L I W R P D I V L Y N N 128
CAAGTGAGTC CTCTACAGGG CCTTGGTGGG CAGGAGTGGC CAGGGCCTGC
7450
CCCTGCCCAG ACAGGGAGCT CCACCAAGGC CCAGCCTGGC CCAGCGGGGC
7500
CTATGCCAGC CCCATGCATG CCAGCCCAGG CCCAGGAAGG AAGAAGCAGG
7550
AGCAATGGAG AAATTGGTGT GGGTTGAGGA GG
G
AAGGGTC CCCCCAGGCC
7600 |
var(7583):[A:0.10]
AGCAAAGAGG CTGAGGGCAT CCCTGGGTCT CAGCACTGGA GCGTCAGAGC
7650
CGGAGGGGCC TGA
G
AGTGGC TATGGCACCT GGACACAGTG TCCCTGCCTG
7700 |
var(7664):[C:0.01]
GACCAGTCCT GAGGCCTGGG GGCTGGCTCC TGACCCGCGA CGTCTTTGCC
7750
CCCACCCTTG A
C
A
GCTGCAG GAGAGCCCTT TTGGGCAGGA GTGCTTTTCG
7800 |
var(7762):[T:0.02]
|
var(7763):[G:0.11]
CCATCAGACC CCATCCTGGC CTTTCTGGGA GAATAGTGTG GACTGCAG
G
G
7850 |
var(7849):[C:0.09]
TGCCCTGGAG AGGGGTGAGG AAGCCCCAGA TGGTTCTCAT GCCACTAGGG
7900
CCTCTGCTTT CTCTGCATAC TCAC
G
CTCTG CCCAGGACAT GTCACGCCAG
7950 |
var(7925):[C:0.01]
GTCCCCAGCA AACAAACAAA GCCTCGGGCT GGGCCAAGCC CATGTCAGGC
8000
TCCTAGGAGG CCAAGATGAA GTCTGGTCAT GGAAACGGGT TTTCTGTGCC
8050
TGGAAGCCAG GGCAGCGTTG CCACGGATTG GCCGTGGCAG ATGGTGGCCT
8100
CC
G
GAGGCTG CTGTCCTCTA ACTTGTCCTT CCTGCAGATC TGTGCCGAGG
8150 |
var(8103):[A:0.01]
GCCCTGCGCC CGGCAGCCAG CGCTCTCTGA GCTGAGTCCT CCAGGGATGA
8200
TCTCTGGCCA CAGGCTCAGG GTCTGGGTGT GGCAGGGTCA CAGCTCCCAC
8250
AAACAAAGCA AATGGAAGCT CTTCCTCCTC TCCCGTCCCA GCCATCTGCC
8300
CACAGCCCTT TCCAGGC
C
CC AGGGCACCCG CCTGACCTAC AAACCCTGCT
8350 |
var(8318):[T:0.01]
GTATGATTAA GAACGATTGG GCTCCTCTTC CAACTCAATT GATTCCAGTA
8400
ATGGCAGCGG GAAGGGCCTC CGGCAGTGGG AGGGCCGGAC GCTTTTCCAG
8450
A
GTGCATTGG GGAGGTGGTC AGTGGTGAGT
G
G
G
C
A
G
C
G
G
G
T
G
G
T
C
T
T
C
C
C
8500 |
var(8451):[G:0.09]
|
NOT SCANNED
T
T
A
G
G
A
C
A
G
A
C
T
C
C
C
T
G
C
C
C
C
C
T
G
C
A
A
G
C
C
A
C
C
C
A
G
C
C
A
C
C
T
A
G
C
T
C
C
C
C
8550
G
C
C
A
C
C
A
G
G
A
C
C
A
T
G
C
A
C
C
G
A
A
T
C
C
G
C
C
T
G
T
G
T
G
A
C
T
C
G
C
A
T
G
G
A
C
A
C
A
T
8600
T
T
C
A
G
G
G
A
G
A
A
G
T
G
G
A
A
A
C
G
C
C
C
A
G
G
A
T
G
G
G
C
C
G
G
G
C
A
G
A
G
A
A
G
C
C
G
C
T
C
8650
T
G
G
G
T
G
C
C
T
G
T
G
C
A
C
A
G
C
C
C
T
C
C
A
G
G
A
A
T
G
C
A
G
C
C
C
C
C
A
G
G
A
A
C
G
A
A
G
C
C
8700
T
C
T
G
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
A
C
T
G
T
G
A
C
C
T
C
A
A
A
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
C
C
8750
C
C
C
C
G
A
G
T
A
C
T
G
C
A
G
C
C
C
C
C
C
C
C
A
C
T
T
C
C
A
C
A
G
C
C
T
C
A
C
C
A
G
G
A
C
C
A
C
G
G
8800
C
C
C
T
C
C
A
A
A
G
A
C
T
G
C
A
G
C
C
C
C
C
A
C
C
A
G
G
T
T
C
A
C
A
G
C
T
C
C
C
C
C
A
G
G
A
C
C
A
C
8850
A
G
T
T
C
C
T
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
C
A
C
A
G
G
C
C
C
C
C
A
G
G
A
C
C
A
C
A
8900
T
T
C
C
C
T
G
C
C
A
G
G
A
C
C
A
C
A
G
T
C
C
T
C
C
C
A
G
G
A
C
T
T
C
A
T
C
C
C
A
C
C
C
T
A
G
G
G
C
T
8950
A
C
A
G
T
G
C
C
T
C
C
T
G
C
A
G
A
A
C
T
G
C
A
G
C
C
C
C
C
A
C
A
A
G
G
A
T
C
A
C
A
G
T
T
C
T
T
G
C
C
9000
T
G
A
C
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
T
A
C
A
A
C
A
C
C
C
C
T
A
G
G
A
C
A
G
C
A
G
C
T
C
C
C
C
C
C
9050
C
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
A
G
G
A
C
T
A
C
A
G
C
C
C
C
C
C
A
9100
G
G
A
C
C
A
C
A
G
C
C
C
C
A
T
T
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
A
9150
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
G
C
C
C
C
C
A
G
9200
G
A
C
C
A
C
A
T
T
C
C
C
T
G
C
C
A
G
G
A
C
C
A
C
A
G
T
C
C
T
C
C
C
A
G
G
A
C
T
T
C
A
T
C
C
C
A
C
C
C
9250
T
A
G
G
G
C
T
A
C
A
G
T
G
C
C
T
C
C
T
G
C
A
G
A
A
C
T
G
C
A
G
C
C
C
C
C
A
C
A
A
G
G
A
T
C
A
C
A
G
T
9300
T
C
T
T
G
C
C
T
G
A
C
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
T
A
C
A
A
C
A
C
C
C
C
T
A
G
G
A
C
C
G
C
A
G
C
9350
C
C
C
C
C
C
G
C
C
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
A
C
C
T
C
C
C
A
G
G
A
C
C
G
C
9400
A
G
C
C
C
C
C
C
C
G
A
G
G
G
T
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
A
G
G
A
C
C
A
C
9450
A
G
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
C
C
C
G
C
T
A
G
G
A
C
C
A
C
A
G
T
C
C
C
C
C
C
A
G
A
A
C
C
A
C
A
9500
G
C
C
C
C
C
C
C
G
A
G
G
G
T
C
A
C
A
G
C
C
C
C
C
T
A
G
A
A
C
C
A
C
A
G
C
C
C
C
T
C
C
A
G
G
A
C
C
A
C
9550
A
G
C
C
C
C
C
T
C
T
A
G
G
A
C
C
A
T
A
G
C
C
C
C
C
T
A
G
G
A
C
C
G
C
A
G
C
C
C
C
C
T
A
G
G
A
C
T
A
C
9600
A
G
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
C
C
T
C
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
C
A
G
G
A
C
C
G
C
A
9650
G
C
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
C
C
T
C
C
T
A
G
G
A
C
T
G
C
A
G
C
C
C
T
C
C
C
A
G
G
A
C
C
A
C
A
9700
G
C
C
C
C
C
T
A
G
G
A
C
T
A
C
A
G
C
C
C
C
T
C
C
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
T
C
T
A
G
G
A
C
C
A
C
9750
A
G
C
C
C
C
C
T
A
G
G
A
C
T
G
C
A
G
T
C
C
C
C
C
C
A
G
G
A
C
C
G
C
A
G
C
C
C
C
C
C
C
A
G
G
A
C
C
A
C
9800
A
G
C
C
C
C
T
C
C
A
G
G
A
C
C
A
T
G
G
C
C
C
C
C
T
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
A
G
G
A
C
C
G
9850
C
A
G
C
C
C
C
C
C
C
T
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
C
A
G
G
A
C
C
A
C
A
G
C
C
C
C
C
C
T
A
G
G
A
C
9900
C
A
C
A
G
C
C
C
C
C
T
A
G
G
A
C
C
A
C
A
G
C
T
C
AGGAGA GCAGGGATTG CTGCCACCCC
9950
ATGTTCTCCT GTGTCTCCTC CTCACCATGG CCTGTGGGAT GTAGTGGGGT
10000
GACCCCAGTT TTCTCTTTGG GGCTGGGATT GTCACCGAGG CTCTCTCCGG
10050
ACAGGACCCA GGGTTCCTGG AGTGGCCGCT GGTGCTGGGT CTGCTCCCGC
10100
TGAGGAGGCC TGTTTCTGGG GCAGCAGGTG GCTGTGGCTG GTGGCCGGCC
10150
AGGCTGCAGG GTGGGAGGCC TCGGCCCTTC TCTGGGATTT GGCCACCCCC
10200
AGTTGGGGGC
C
CTGCTGTCC ACTTGGGGCA GGTGCCCAGA AATC
C
CTGA
C
10250 |
var(10211):[T:0.01]
|
var(10245):[T:0.01]
|
var(10250):[T:0.01]
CTGGACTGGG GTCGGGGTGG AGGGGACAGA GGGTCTCACG CCAGCCTGTG
10300
GGCCCTGGAG CAGGAACCTG GACCTGCTGG ACTGGGCGGC TCCTCAGACC
10350
CTGTCTGCTC CCAGGGTGCA GCTTTATGGT G
C
GAGTCCAG AGCC
A
GCTCA
10400 |
var(10382):[G:0.02]
|
var(10395):[G:0.18]
CGGCCGGGTG GTTCAGCCCA AACGGGGTTC TCCTCAAAGG CTCCCCAGAG
10450
GGCG
G
CTGGA GCCAGGGGTG GGCGGGGCAG GGAGCAGCAG TGATGCAGCC
10500 |
var(10455):[A:0.01]
CAGGGGTGCT GTGGGACCTG GGGGCTGGGG GACCTGGCCC TGACCTTGTC
10550
CCGTTTCCTG TGGCGCGGGC AGAGGACCC
T
GGGGGAGGGG GGCCCTGCCC
10600 |
var(10580):[C:0.07]
AGAGTGGCGC AGACCTGCAC TGTTCCCTGA GCATGGCCCT GGCGTTCCCT
10650
GTAGAGTGTG TGCTGAACAG AGTAGTCACC CGCTTGCCAT ATGAGAATCT
10700
TTTAATTTGT GCCTCAGAAG GTGGAGGGCG TTGGTTTTTG GAGAGATGGG
10750
CTGGGGAGAG GGAGCAAACT TGAGCCT
G
AT TCCACCCAGA CTGACTTGGT
10800 |
var(10778):[C:0.01]
GGTAAAGCCC
C
GCCCCCCGC TGGAGGGACG CTCGGGAGCC AGGCTGTGCT
10850 |
var(10811):[T:0.02]
GGGCCGGAGC CGCATTGAGA TGCAGCTGGT GGCTCTTGCT GGGTCTCCCT
10900
CCCTCTGCAG CTGAGCGGCA GCCCAGCCGG CGGTGTTGGC TCAGGACCAG
10950
TTCAG
A
GGGG CAGAGGCTCA GCACCGACTG AGACCGTGGG GGGCCAGGTC
11000 |
var(10956):[G:0.19]
TCCACGACCT GGAGGGCAGA GCTCCAGCAG TGGCGGCTCC ACAAAGGGAG
11050
GGTCCCTGAG GGTTGGGAGG GAGGTTGAGG TGCAGGTCCA GCCCTGGGAC
11100
TCGGGGGCAG GCACAGAGGA AGCTCAGGGA ACAGTCGCCA GCTCTGCCCA
11150
AGTACCTGGA GA
G
GCCCTGG CCTTTGAGCA GGCTCTCAGG GAATG
A
G
A
C
A
11200 |
var(11163):[A:0.09]
|
var(11196):[:0.09]
|
var(11198):[G:0.43]
GAGGAGGGAT GGGCAGGGGT CCAGGCAGCT TGGCAGAGGT GGAGCAGGAG
11250
GTGTGTGGCT GGGCAGCCGC TCCCCCCGAC GCGTCGTGCC CCAGCGCCCT
11300
CCACAGAGCT GAGCCTGGCC CCATGCCTGC CAACGCTGGG GATTTAATGG
11350
GGCCTCAGGC TTCCCATTGG TGGGGACTTC TGTGGGTGGG GGTGGAGGGT
11400
C
G
GCTGCTGC CCCCGTGAGC CTGGCTGCCT CAGCCCTGAA TGTGCTCCTG
11450 |
var(11401):[T:0.36]
|
var(11402):[A:0.01]
CAGTGCGTCC CACCCAGCCA GCCGCTGTCT ATGGAACC
G
G GGGCTGGGGC
11500 |
var(11489):[A:0.09]
TGGGAGCTCT GCCTACCGG
G
AGGAGTTCAA GGGACATCAG CCCCTCGCTC
11550 |
var(11520):[C:0.01]
CATTGCTCTG TTGCCCACCT GGGCCTGTGG ACAGAACACC CACGTCCCCC
11600
AAGGCAAAAG AGAGTCCAGA GCCAGTGGCT CAGACGTGGC CCTGGAACTG
11650
GGCAGTGCGT ATGCAGCCCC ACTGCATTGG CCCTGGGTGG CCAGAACACC
11700
TGTCCTTGCC TCTGTGGCCC CTGGTGTCCT CATGCTCACA CACTGGGAGG
11750
TG
G
CCTCCAA GTCCTTGGGG TTAACGGCAG AAGCTGGGTG AGGAATTCCC
11800 |
var(11753):[C:0.01]
ATGGTGGCCC GGGGTGCTGC TTGGAGGGGC
A
GGGACATAG GGATGCCGTG
11850 |
var(11831):[G:0.20]
TGTCCCAGGA GGTGACGCTG GGAGACTAGC CCCATCCATG C
G
CCACTCAT
11900 |
var(11892):[A:0.10]
GGATAAGGGT AATCACCAG
C
A
G
C
A
G
T
G
A
T
T
A
T
G
T
G
T
G
T
C
A
G
G
C
A
C
T
C
G
T
A
11950 |
NOT SCANNED
G
G
T
C
C
C
T
T
C
C
C
G
T
T
C
T
C
T
G
A
A
C
C
A
C
G
T
G
C
T
A
C
G
C
C
C
A
G
C
T
C
A
G
G
G
A
T
G
A
T
12000
A
A
A
C
T
G
A
G
G
T
G
C
A
C
G
A
G
T
A
G
G
T
G
A
G
A
A
G
A
C
G
A
A
C
A
G
T
G
T
A
C
C
C
G
G
G
C
A
A
G
12050
G
C
C
G
C
C
A
G
C
C
C
T
T
T
T
G
T
G
C
T
C
C
T
G
T
G
A
C
G
T
G
A
G
A
A
T
G
C
C
T
C
T
G
T
G
T
G
T
G
G
12100
A
C
G
T
G
G
A
C
G
T
G
G
A
C
G
T
G
G
A
C
G
T
G
G
G
T
G
T
G
G
A
T
G
T
G
G
G
C
G
T
G
G
A
C
G
T
G
G
A
C
12150
G
T
G
G
G
T
G
T
G
G
A
T
G
T
G
G
G
C
G
T
G
G
G
A
C
A
T
G
G
A
T
G
T
G
G
G
C
G
T
G
G
A
C
G
T
G
G
A
T
G
12200
T
G
G
G
C
G
T
G
G
A
C
G
T
G
G
A
T
G
T
G
G
G
C
G
T
G
G
A
T
G
T
G
G
G
T
G
T
G
G
G
T
G
T
G
G
A
C
G
T
G
12250
G
G
C
A
T
G
G
G
T
G
T
G
G
C
A
G
T
G
G
G
C
G
T
G
G
G
T
G
T
G
G
A
C
G
T
G
G
G
C
A
T
G
G
A
T
G
T
G
G
G
12300
G
G
T
C
T
C
A
C
A
C
CCTTCGCTCT CTTCCTGCCC AG
T
G
C
T
G
A
C
G
G
G
G
A
C
T
T
C
G
C
12350 | Exon 5
A D G D F A 134
G
G
T
C
A
C
C
C
A
C
C
T
G
A
C
C
A
A
G
G
C
C
C
A
C
C
T
G
T
T
C
C
A
T
G
A
C
G
G
G
C
G
G
G
T
G
C
A
G
T
12400
V T H L T K A H L F H D G R V Q 150
G
G
A
C
T
C
C
C
C
C
G
G
C
C
A
T
T
T
A
C
A
A
G
A
G
C
T
C
C
T
G
C
A
G
C
A
T
C
G
A
C
G
T
C
A
C
C
T
T
C
12450
W T P P A I Y K S S C S I D V T F 167
T
T
C
C
C
C
T
T
C
G
A
C
C
A
G
C
A
G
A
A
C
T
G
C
A
C
C
A
T
G
A
A
A
T
T
C
G
G
C
T
C
C
T
G
G
A
C
C
T
A
12500
F P F D Q Q N C T M K F G S W T Y 184
C
G
A
C
A
A
G
G
C
C
A
A
G
A
T
C
G
A
C
C
T
G
G
T
G
A
A
C
A
T
G
C
A
C
A
G
C
C
G
C
G
T
G
G
A
C
C
A
G
C
12550
D K A K I D L V N M H S R V D Q 200
T
G
G
A
C
T
T
C
T
G
G
G
A
G
A
G
T
G
G
C
G
A
G
T
G
G
G
T
C
A
T
C
G
T
G
G
A
C
G
C
C
G
T
G
G
G
C
A
C
C
12600 |
var(12588):[T:0.16]
L D F W E S G E W V I V D A V G T 217
T
A
C
A
A
C
A
C
C
A
G
G
A
A
G
T
A
C
G
A
G
T
G
C
T
G
C
G
C
C
G
A
G
A
T
C
T
A
C
C
C
G
G
A
C
A
T
C
A
C
12650 |
var(12627):[T:0.10]
|
var(12630):[A:0.01]
Y N T R K Y E C C A E I Y P D I T 234
C
T
A
T
G
C
C
T
T
C
G
T
C
A
T
C
C
G
G
C
G
G
C
T
G
C
C
G
C
T
C
T
T
C
T
A
C
A
C
C
A
T
C
A
A
C
C
T
C
A
12700
Y A F V I R R L P L F Y T I N L 250
T
C
A
T
C
C
C
C
T
G
C
C
T
G
C
T
C
A
T
C
T
C
C
T
G
C
C
T
C
A
C
C
G
T
G
C
T
G
G
T
C
T
T
C
T
A
C
C
T
G
12750
I I P C L L I S C L T V L V F Y L 267
C
C
C
T
C
C
G
A
G
T
G
T
G
G
C
G
A
G
A
A
G
A
T
C
A
C
G
C
T
G
T
G
C
A
T
C
T
C
C
G
T
G
C
T
G
C
T
G
T
C
12800
P S E C G E K I T L C I S V L L S 284
G
C
T
C
A
C
C
G
T
C
T
T
C
C
T
G
C
T
G
C
T
C
A
T
C
A
C
C
G
A
G
A
T
C
A
T
C
C
C
G
T
C
C
A
C
C
T
C
A
C
12850
L T V F L L L I T E I I P S T S 300
T
G
G
T
C
A
T
C
C
C
A
C
T
C
A
T
C
G
G
C
G
A
G
T
A
C
C
T
G
C
T
G
T
T
C
A
C
C
A
T
G
A
T
C
T
T
C
G
T
C
12900
L V I P L I G E Y L L F T M I F V 317
A
C
C
C
T
G
T
C
C
A
T
C
G
T
C
A
T
C
A
C
G
G
T
C
T
T
C
G
T
G
C
T
C
A
A
C
G
T
G
C
A
C
C
A
C
C
G
C
T
C
12950
T L S I V I T V F V L N V H H R S 334
G
C
C
A
C
G
C
A
C
G
C
A
C
A
C
C
A
T
G
C
C
C
A
C
C
T
G
G
G
T
A
C
G
C
A
G
G
G
T
C
T
T
C
C
T
G
G
A
C
A
13000
P R T H T M P T W V R R V F L D 350
T
C
G
T
G
C
C
A
C
G
C
C
T
G
C
T
C
C
T
C
A
T
G
A
A
G
C
G
G
C
C
G
T
C
C
G
T
G
G
T
C
A
A
G
G
A
C
A
A
T
13050
I V P R L L L M K R P S V V K D N 367
T
G
C
C
G
G
C
G
G
C
T
C
A
T
C
G
A
G
T
C
C
A
T
G
C
A
T
A
A
G
A
T
G
G
C
C
A
G
T
G
C
C
C
C
G
C
G
C
T
T
13100
C R R L I E S M H K M A S A P R F 384
C
T
G
G
C
C
C
G
A
G
C
C
A
G
A
A
G
G
G
G
A
G
C
C
C
C
C
T
G
C
C
A
C
G
A
G
C
G
G
C
A
C
C
C
A
G
A
G
C
C
13150 |
var(13107):[G:0.01]
|
var(13109):[G:0.01]
W P E P E G E P P A T S G T Q S 400
T
G
C
A
C
C
C
T
C
C
C
T
C
A
C
C
G
T
C
C
T
T
C
T
G
C
G
T
C
C
C
C
C
T
G
G
A
T
G
T
G
C
C
G
G
C
T
G
A
G
13200 |
var(13158):[G:0.19]
|
var(13176):[T:0.10]
L H P P S P S F C V P L D V P A E 417
C
C
T
G
G
G
C
C
T
T
C
C
T
G
C
A
A
G
T
C
A
C
C
C
T
C
C
G
A
C
C
A
G
C
T
C
C
C
T
C
C
T
C
A
G
C
A
G
C
C
13250
P G P S C K S P S D Q L P P Q Q P 434
C
C
T
G
G
A
A
G
C
T
G
A
G
A
A
A
G
C
C
A
G
C
C
C
C
C
A
C
C
C
C
T
C
G
C
C
T
G
G
A
C
C
C
T
G
C
C
G
C
C
13300
L E A E K A S P H P S P G P C R 450
C
G
C
C
C
C
A
C
G
G
C
A
C
C
C
A
G
G
C
A
C
C
A
G
G
G
C
T
G
G
C
C
A
A
A
G
C
C
A
G
G
T
C
C
C
T
C
A
G
C
13350 |
var(13350):[T:0.01]
P P H G T Q A P G L A K A R S L S 467
G
T
C
C
A
G
C
A
C
A
T
G
T
C
C
A
G
C
C
C
T
G
G
C
G
A
A
G
C
G
G
T
G
G
A
A
G
G
C
G
G
C
G
T
C
C
G
G
T
G
13400
V Q H M S S P G E A V E G G V R C 484
C
C
G
G
T
C
T
C
G
G
A
G
C
A
T
C
C
A
G
T
A
C
T
G
T
G
T
T
C
C
C
C
G
A
G
A
C
G
A
T
G
C
C
G
C
C
C
C
C
G
13450
R S R S I Q Y C V P R D D A A P 500
A
G
G
C
A
G
A
T
G
G
C
C
A
G
G
C
T
G
C
C
G
G
C
G
C
C
C
T
G
G
C
C
T
C
T
C
G
C
A
A
C
A
C
C
C
A
C
T
C
G
13500 |
var(13499):[T:0.01]
E A D G Q A A G A L A S R N T H S 517
G
C
T
G
A
G
C
T
C
C
C
A
C
C
C
C
C
A
G
A
C
C
A
G
C
C
C
T
C
T
C
C
G
T
G
C
A
A
A
T
G
C
A
C
A
T
G
C
A
A
13550
A E L P P P D Q P S P C K C T C K 534
G
A
A
G
G
A
G
C
C
C
T
C
T
T
C
G
G
T
G
T
C
C
C
C
G
A
G
C
G
C
C
A
C
G
G
T
C
A
A
G
A
C
C
C
G
C
A
G
C
A
13600 |
var(13578):[T:0.35]
K E P S S V S P S A T V K T R S 550
C
C
A
A
A
G
C
G
C
C
G
C
C
C
C
C
G
C
A
C
C
T
G
C
C
C
C
T
G
T
C
G
C
C
G
G
C
C
C
T
G
A
C
C
C
G
G
G
C
G
13650 |
var(13608):[A:0.39]
T K A P P P H L P L S P A L T R A 567
G
T
G
G
A
G
G
G
C
G
T
C
C
A
G
T
A
C
A
T
T
G
C
A
G
A
C
C
A
C
C
T
G
A
A
G
G
C
C
G
A
A
G
A
C
A
C
A
G
A
13700
V E G V Q Y I A D H L K A E D T D 584
C
T
T
C
T
C
G
GTA AGTCCC
G
C
CC
A
TGGCTGTGT TGGGCGCCTC TGACCCAGAC
13750 |
var(13717):[A:0.01]
|
var(13718):[T:0.02]
|
var(13721):[G:0.33]
F S 586
GGAACCGGCG GACGCCCTTT CTTCCTGGTG TGTAATCCAG GAGCCGGG
C
C
13800 |
NOT SCANNED
C
A
G
G
C
C
T
C
A
G
G
C
T
G
C
T
T
C
G
C
T
T
T
G
G
G
G
T
G
C
A
G
G
G
C
G
T
G
G
C
C
C
C
T
G
C
T
G
C
A
13850
G
C
A
G
C
C
T
C
T
T
C
C
C
A
A
G
C
C
T
G
C
T
A
T
G
T
G
G
C
C
G
C
A
G
G
T
C
C
C
A
G
G
C
T
G
A
G
C
G
G
13900
G
G
C
A
G
G
G
G
G
C
C
C
C
G
A
G
T
G
G
C
T
G
G
C
A
C
A
G
G
G
T
G
G
A
T
C
C
C
G
G
T
G
C
C
G
T
C
T
C
T
13950
G
G
C
T
T
T
G
G
G
A
C
A
C
A
G
T
G
G
G
C
C
T
C
G
G
C
G
G
A
C
G
G
C
A
C
G
G
T
G
A
G
G
G
G
C
C
A
C
A
G
14000
G
C
A
G
C
G
T
C
C
T
T
C
C
A
G
C
A
C
A
G
A
A
C
G
G
G
G
G
C
G
C
T
C
T
G
G
G
A
A
C
T
C
C
T
G
C
C
C
A
G
14050
C
A
A
T
G
G
C
C
A
A
G
T
C
C
C
C
A
G
A
A
C
G
C
A
A
C
G
A
G
G
C
A
C
T
G
C
C
A
A
G
G
C
C
C
T
T
T
C
T
C
14100
C
A
G
A
G
T
G
C
G
C
C
T
G
T
G
C
C
T
G
C
C
C
C
G
C
G
G
G
C
C
T
C
C
C
C
G
G
G
G
C
C
C
C
T
C
C
G
T
A
T
14150
C
T
G
G
G
G
C
C
T
G
G
A
T
G
T
A
G
G
G
G
G
C
T
C
A
G
A
G
A
A
G
A
T
G
G
G
A
T
G
G
G
A
T
G
G
G
C
T
G
G
14200
T
G
G
C
A
G
G
A
G
G
A
C
G
G
A
G
C
T
G
G
G
A
C
A
G
G
G
ACA CAGCTCCAAG ACCATCAGCC
14250
CCACACGGCC AAGCTGGGGA CAGGTGGGAG AGCCAGGGGC TGGGGGCAGA
14300
ACGCTGGTCC CACGGCTAAG GCCCCCCGGG GCCCGGGGCC AGCCCACCTA
14350
CCCTCACCCT CCAGCGCCAG GCACTGGC
C
G CACAGAGGC
C
CCAGGAGCCA
14400 |
var(14379):[T:0.01]
|
var(14390):[T:0.01]
CAGTTTCTGC TAAGTGGCAG CCATGTCCGT GTTACCCGTG GCTGTGCAGT
14450
T
TCCTACCCA TTCCATGCAG GAGAGGCTGG GGCTGAGCCA GCTTTGCCTG
14500 |
var(14451):[C:0.21]
ACCCCAGCAC CAGGTAGCTT CCCTGTTTCC TTCTGCAGAC ATTTACTGCC
14550
TGTCACATGG GGGGAGGCAC AGGGGCCAGG GTCCAC
A
GAC AGGATAATGG
14600 |
var(14587):[G:0.20]
GGCGGGA
C
GG GTGGGGCACA CAGGTGGCCG GGGGTCTCGG CCTCGGCTGT
14650 |
var(14608):[T:0.01]
GCAGCCCATG ACGTCCACAG CGGCAATTCG GCATCTGTCC TGTCCATCCA
14700
C
CTGCTGTCG CCGGCACCTC CTGGCTCTTG TCCCGGTGCC AGGGCCTGGT
14750 |
var(14701):[T:0.01]
GCCCTCAGTG GGCCACCTCC GTCTGAAGGG GCCACCTCTG CCAGGACCCC
14800
AGAGCGCCAT CCTCGATGGT TTATTCGGAC GCATCTGGTG CCTGCCCCCA
14850
CTAGCTGAGC GAGCCCCAAA GCGAGGGGCC CGTGCTCCAT ACCCATGAAA
14900
AGTGAGGGAG TTGCTCGC
T
C CACACAGCCA CCCCACTGAA TCCCAAGAAG
14950 |
var(14919):[C:0.21]
CTGCAAAACC TCCTGCAGGT TCCAGAACAT TCTGGGGTCA CGAGAGCAGC
15000
CTGGAGAAGC ATCGGGATCC TGCTTTGCTG CCAGCTCTTG AAGCGAGAGG
15050
CAGCTGTGCC C
G
GGCTGTGC CACCGTGGGG TCAGATGC
A
T TTAGGTGTTT
15100 |
var(15062):[A:0.01]
|
var(15089):[G:0.01]
GATCAAAGCG GTCCTGAAGC TGGCAGTGGG TCTGAGCTCG GCGGTCGCGC
15150
G
G
CCTGGGCC CCTCCAGCAG CCTTCTCGGG CCGATTGCTG CCGCTGCCTG
15200 |
var(15152):[C:0.19]
ACCTGGTTCT GGGCTTGTGG GGAGCAGAGC TGACTTCACA GCAGCCACCT
15250
CGGGGACAAA GGGAAGGCTT TGGTCTGCGG CTGCGTTTCA TCTTCAGGGT
15300
GGATGGAACG CGGCACACAG AACCCAGGGA ACTAAAGGCA CATAGGAAAG
15350
GGCGAGAGGG CGGC
C
GCGTC CCCGCCCCCA GAG
C
CGAGGC CTGGGCAGGA
15400 |
var(15365):[T:0.01]
|
var(15384):[T:0.01]
CTTTATTTAT AAGTGACCCC GTTTGCCTTC AGGCTTCCCG TAGATAAATG
15450
CGGCCGTTTT GGTTCAGTTT AACACCATCA GGAGACC
T
GG GATTGCTATA
15500 |
var(15488):[C:0.19]
AACAATCAGA GCAGGAGGCG GCACTGTCCC CACAGTGTGC CCAGGCCCCC
15550
GCGGCACATC CCTCCCATCC CTCAGCATCC ACAGGCCTGG GACCCAGGAC
15600
ACCCTCACGG C
C
GGGCCCAG AGGCAGCTCA TCAGCTTGGG GGTTGTCTCA
15650 |
var(15612):[T:0.39]
GGTCCTACAC GGCAGAGCCA GAGACGCGGG ACGGGGGAGC CGGGGCGAGG
15700
GCAGTGGCCA GCGGCATGAG TGCCTTGGGC TGCACACAGC GGCTGTCTCG
15750
AGAGTGGCTT CCCGACTCCA GGCCTGACCA GGCCACTGCC TCTGCCCTCC
15800
CTAGGCCTCT GCTCCTGGGG GTCACCCGGG GGAGGTC
C
G
C CCTGCATCAG
15850 |
var(15838):[A:0.05]
|
var(15839):[A:0.05]
CCCCAGGAGT GTGGGGTTAG AAGCCGGACC TGGAGCCGGA ACCCGCTGTC
15900
CCCGTTCAGA TATGTAACCG CAGCCGCCCC TGAAGGCCTC AGTGTGAAAA
15950
CGAGACAGGC CAGGGGAGGC TCGAGTGAGA GACTGCAGAT GGCGGCAGCT
16000
CTGCGGGCTC CATGTGTGCT GCTTTCGTCC GCCCTCTGTG CGCCCAC
C
GG
16050 |
var(16048):[A:0.01]
GCCACATTTG CCCATCTGCA AAA
C
GGGGAG GGGGATGGGC CCTCCCAGCG
16100 |
var(16074):[T:0.03]
CTGGTGAGCT GAGAGCAGAC CGCTCACGGG GTGCCTGAGC CCCCCTCCCC
16150
CGTGCCCCCT TCCC
G
GAGCA CAGGCCGCCT GCTGAGA
G
GT GGGGGCACAC
16200 |
var(16165):[A:0.01]
|
var(16188):[A:0.09]
AGGGCATAGT GCAGAGCTTG TCTCCACAAG GGGGTCTGCC CAGCCAGAAT
16250
TCCCAGGGTT GCAAGGTCCT CCTGCCCCAT ACCATGGTGA TGATGCCCCC
16300
CGCAGAGCAC TGGCTGTCCC GTGCACCCCA ATTCCTCCCC TCGGTGCAGC
16350
TGTGTGCCGC GTGCACCAGC AGCAATGGCT GCCTCGGGTG GAAGGTGGGA
16400
GGTGGAGAAG CTGTTGCCGG CG
G
CGCCGGG GTCCTGAGGG CTGTCCCCGC
16450 |
var(16423):[T:0.01]
TGGCGGCGGC CGGGCCGTGC TGGAGTGACG GC
G
TCTGTGC TTGCAG
G
T
G
A
16500 |
var(16483):[A:0.04]
| Exon 6
V 587
A
G
G
A
G
G
A
C
T
G
G
A
A
G
T
A
C
G
T
G
G
C
C
A
T
G
G
T
C
A
T
C
G
A
C
C
G
C
A
T
C
T
T
C
C
T
C
T
G
G
16550
K E D W K Y V A M V I D R I F L W 604
A
T
G
T
T
C
A
T
C
A
T
C
G
T
C
T
G
C
C
T
G
C
T
G
G
G
G
A
C
G
G
T
G
G
G
C
C
T
C
T
T
C
C
T
G
C
C
G
C
C
16600
M F I I V C L L G T V G L F L P P 621
C
T
G
G
C
T
G
G
C
T
G
G
C
A
T
G
A
T
C
T
A
G
G
A
A
G
G
G
A
C
C
G
G
G
A
G
C
C
T
G
C
G
T
G
G
C
C
T
G
G
16650 |
UTR
W L A G M I 627
G
G
C
T
G
C
C
G
T
G
C
A
C
G
G
G
G
C
C
A
G
C
A
T
C
C
A
T
G
C
G
G
C
C
G
G
C
C
T
G
G
G
G
C
C
G
G
G
C
T
16700
G
G
C
T
T
C
T
C
C
C
T
G
G
A
C
T
C
T
G
T
G
G
G
G
C
C
A
C
A
C
G
T
T
T
G
C
C
A
A
A
T
T
T
T
C
C
T
T
C
C
16750
T
G
T
T
C
T
G
T
G
T
C
T
G
C
T
G
T
A
A
G
A
C
G
G
C
C
T
T
G
G
A
C
G
G
G
G
A
C
A
C
G
G
C
C
T
C
T
G
G
G
16800
G
A
G
A
C
C
G
A
G
T
G
T
G
G
A
G
C
T
G
C
T
T
C
C
A
G
T
T
G
G
A
C
T
G
T
G
G
C
C
T
C
A
G
G
A
G
G
C
A
G
16850
T
G
G
C
T
T
G
G
A
G
C
A
G
A
G
G
T
G
G
G
G
G
T
C
G
G
C
G
C
C
T
T
C
T
A
C
C
T
G
C
A
G
G
A
C
T
C
G
G
G
16900 |
var(16878):[A:0.02]
|
var(16891):[G:0.01]
|
var(16898):[A:0.01]
C
T
A
A
G
T
CCAG TTCAAGAGTC TCCTGAGCTC CCCTGCAGAT GGAACTCACT
16950
CCTCCCAGTC TCTCAGCAGA TCTGGTGATG GTCCCGAC
C
G CCCCAAGGGG
17000 |
var(16989):[T:0.01]
CCCTTGAAGG GAGTTCA
C
GC CCCTTCAGCC CCAAGCGCCC CGTCTTCTGG
17050 |
var(17018):[T:0.01]
AGGCCCGG
C
C GCCTCTCCCA C
C
CACC
G
TGT CCTGCGCCTG TGTGGGCTTC
17100 |
var(17059):[T:0.01]
|
var(17072):[T:0.01]
|
var(17077):[A:0.01]
AACTTCTCCC CCAGGGTCCT TGAGCCTCTC GGGCCCCATG AGGGTGAGCC
17150
AGCAG
T
GCTC CAATCTGCTT CGCTAGGAGA GGGTCCAGGC AGGGATTGTG
17200 |
var(17156):[C:0.30]
TTTGGTTGTG TTTTGGGTAA GTTAGTGAGA ACTCAAGTCT TGTGCCTAAG
17250
GAGCCTTGGA GAACAGAGTT TTGTGGAGCT
G
GTTCCGCGT GGGGAGAAT
C
17300 |
var(17281):[A:0.05]
|
var(17300):[T:0.01]
GGGAGGCCCA C
G
CGGGA
C
C
A
G
C
T
C
T
C
C
C
C
T
G
C
G
C
A
G
G
C
C
C
T
C
C
G
C
G
G
G
G
G
17350 |
var(17312):[A:0.01]
| Exon 7 |
UTR
|
var(17339):[T:0.03]
|
var(17344):[A:0.01]
|
var(17346):[A:0.01]
A
C
A
G
G
A
A
C
A
C
C
C
A
G
C
C
C
C
A
G
C
G
A
G
T
C
T
G
G
A
G
A
C
C
A
G
G
A
C
T
C
T
G
C
C
T
T
C
C
A
17400 |
var(17377):[C:0.04]
|
var(17394):[A:0.01]
G
G
C
G
T
A
G
G
G
C
C
A
G
G
G
C
T
C
T
G
G
C
A
G
G
T
G
G
C
C
A
G
G
G
C
T
C
C
A
C
G
G
G
G
G
C
C
T
A
G
17450
T
G
G
C
T
T
C
A
G
C
C
C
C
T
G
G
G
G
T
A
C
T
T
C
T
G
T
G
T
T
G
T
G
A
T
T
C
C
C
C
G
G
A
G
C
T
G
G
G
A
17500
A
G
G
T
C
C
C
G
A
A
T
G
G
A
G
T
C
C
A
G
A
C
C
T
G
G
G
C
C
C
T
G
G
T
T
C
C
C
C
C
A
G
G
A
C
C
C
T
G
A
17550
G
G
G
T
T
T
C
C
A
C
C
T
T
G
G
C
G
C
G
C
A
G
C
C
C
G
G
G
A
G
A
T
C
C
G
C
C
C
T
G
G
G
C
T
C
T
G
G
G
T
17600
T
C
G
G
G
A
A
G
A
A
G
G
A
C
T
T
C
C
T
G
C
T
A
C
A
G
T
A
G
C
T
G
T
G
G
G
G
A
G
C
T
G
G
T
G
G
G
G
G
C
17650
A
T
C
C
T
T
G
A
G
G
A
C
C
T
C
C
A
C
C
T
G
G
G
A
G
A
T
G
C
T
G
G
G
A
C
C
C
T
C
G
G
G
G
C
A
G
G
A
A
G
17700 |
var(17663):[G:0.03]
|
var(17697):[A:0.03]
T
C
C
C
T
G
A
G
A
A
G
C
C
T
C
A
T
G
G
G
A
G
T
C
A
G
G
G
A
G
C
C
C
T
G
G
G
G
T
T
T
C
C
A
C
A
C
A
G
G
17750
C
C
C
A
T
G
C
C
C
T
C
C
G
T
C
C
T
G
G
C
A
G
G
G
C
A
G
G
C
A
G
A
G
C
T
C
A
G
C
A
C
A
G
C
C
T
C
A
C
C
17800 |
var(17792):[G:0.03]
C
C
T
G
C
A
G
G
C
G
G
T
A
T
C
C
A
G
A
G
G
T
G
A
G
G
G
A
G
G
C
C
T
G
A
A
A
T
G
T
T
T
C
C
A
G
G
C
A
T
17850
G
A
C
C
C
T
G
G
A
G
C
C
C
G
G
C
A
G
T
G
C
A
C
C
C
C
C
T
A
A
A
G
A
T
G
G
C
G
C
A
C
C
C
G
G
C
A
G
C
C
17900
C
C
C
C
A
G
T
G
T
C
C
C
C
A
G
G
G
G
C
A
C
A
C
T
T
C
C
C
C
T
T
G
G
G
A
T
G
G
G
C
A
C
A
G
G
C
T
G
C
C
17950
C
C
A
C
C
C
C
T
C
C
A
T
G
A
T
T
C
C
A
A
G
G
G
C
C
C
A
G
A
G
G
G
G
C
G
G
G
G
C
C
A
G
G
A
T
G
G
C
G
T
18000
G
T
C
C
C
C
T
G
C
C
T
G
T
G
A
G
T
G
A
C
A
T
C
G
G
T
T
C
A
G
G
A
G
G
A
G
A
C
A
G
T
C
A
G
G
A
A
G
C
C
18050
T
C
C
T
G
C
T
G
A
G
T
G
G
T
C
C
A
C
A
T
T
C
T
G
C
T
G
C
C
C
C
C
A
G
A
C
C
C
C
A
T
C
C
A
G
C
C
A
G
G
18100
G
G
T
G
G
G
G
A
T
G
G
G
G
T
T
G
G
G
C
T
C
T
G
C
G
T
C
C
C
A
C
T
G
A
G
T
C
T
C
A
T
T
C
C
T
C
T
G
T
C
18150
C
C
C
G
A
G
C
C
G
A
G
C
T
C
T
C
C
T
G
G
G
C
C
A
G
G
G
T
C
T
C
G
T
C
A
G
G
A
G
G
T
G
C
C
T
G
A
G
A
G
18200 |
var(18182):[A:0.03]
C
A
G
A
A
T
G
A
A
T
A
A
T
T
G
A
G
G
T
T
A
G
G
A
A
C
C
C
G
G
C
A
T
G
C
C
G
A
G
T
G
C
C
C
C
A
G
A
A
A
18250
T
G
C
C
G
C
T
G
T
G
T
C
C
C
C
G
C
G
G
G
C
A
G
T
G
A
C
G
T
G
A
G
T
G
G
G
G
A
G
G
A
G
A
C
T
C
A
G
G
C
18300
C
C
A
C
A
T
T
G
C
C
C
A
C
A
C
C
T
G
C
C
T
C
T
G
A
A
C
T
G
C
T
G
C
T
G
G
T
C
A
C
C
C
C
C
A
C
C
C
C
C
18350
G
G
G
T
G
C
C
T
G
T
G
A
C
C
G
G
G
G
T
C
C
T
G
A
G
G
C
T
G
G
G
G
C
T
T
T
T
G
T
G
C
C
A
G
G
A
G
T
G
G
18400
G
T
G
G
G
A
C
A
C
A
G
A
G
A
C
C
C
C
C
G
T
G
C
C
A
A
A
T
C
C
T
G
G
G
C
A
T
C
C
C
C
A
G
C
C
C
C
C
T
G
18450
G
C
C
C
C
T
C
C
C
A
C
A
T
C
C
C
C
C
G
T
G
T
A
T
T
C
A
G
G
A
C
C
C
C
A
T
C
T
G
C
T
G
A
G
C
T
C
T
G
A
18500
C
C
T
G
C
C
C
C
C
G
C
T
C
T
G
C
C
A
T
C
A
G
C
C
C
C
T
G
C
T
G
C
T
C
C
T
C
G
G
C
C
A
G
A
G
C
T
C
C
C
18550 |
var(18541):[T:0.02]
A
G
G
A
C
G
C
A
G
G
G
A
G
A
C
C
C
T
G
G
G
A
G
A
G
T
G
A
G
G
T
C
A
T
C
C
C
G
G
G
G
C
C
A
T
G
G
A
A
G
18600
C
T
G
G
C
A
G
G
A
G
A
C
A
C
T
G
G
T
C
T
C
A
G
A
G
G
A
G
G
G
A
T
A
G
A
G
A
C
G
C
A
G
A
T
T
T
C
A
G
A
18650
T
G
T
A
A
G
A
A
G
C
C
C
G
A
T
C
C
A
C
A
T
T
G
C
A
T
A
A
G
T
G
G
A
C
C
C
A
G
C
T
G
CCAGATGTG
18700 |
var(18680):[C:0.03]
|
var(18684):[T:0.03]
TGGGCAGCTG CAGGGAGTGG CCCGGGGTGC TGGGCCCAGC TGTGGTTGTT
18750
CTTTTCTGGG TCAGGAGTGA CTGCGGAGTG GCTGGGACGC TCCTGCCGGG
18800
GGACCCTCCT GCCGGGGGTG GCCGCTTGCC TGGGGGAAGA CCCCTTTCCC
18850
TTTCTTTTTT TTTTTGAGGC TCAAAAAAAA AATCCAAATA AAGCACCATA
18900
TTCCCACCAC GCCAAATTAA CCTTGACAAC AATGTTGGCG TATTTGC
G
TC
18950 |
var(18948):[A:0.01]
CAGTGCTGTT TTTATTAATT AAGGTAAAAT TTACATATGG TGAGATGCAT
19000
GCTCTTCAGT GGAGACCCAG C
C
C
C
T
A
G
A
A
G
G
T
C
C
C
T
C
C
A
G
C
C
C
T
T
C
C
T
G
T
19050 |
REPEAT
|
var(19039):[G:0.01]
C
G
G
C
G
T
C
C
C
T
C
C
C
C
A
T
C
T
G
T
G
G
C
T
C
T
G
A
C
T
T
A
A
G
C
A
C
C
G
T
G
G
A
T
T
G
A
C
C
T
19100 |
var(19088):[G:0.03]
C
T
C
C
G
G
C
T
C
A
C
G
A
C
C
T
T
C
G
A
G
G
A
G
T
C
A
G
A
A
T
C
C
T
G
C
A
G
T
T
G
G
A
G
C
C
T
T
T
G
19150
A
T
G
T
C
T
G
G
C
T
T
C
T
T
C
A
T
C
C
T
A
T
G
A
C
T
T
A
G
A
G
C
T
T
C
A
T
C
C
G
T
G
C
T
G
T
T
G
T
G
19200 |
NOT SCANNED
T
G
T
G
T
C
C
G
T
A
G
C
T
C
C
T
T
G
C
T
G
T
C
T
G
T
T
C
C
T
T
C
G
T
T
T
T
T
A
A
T
T
G
T
G
A
G
C
A
G
19250
T
G
T
T
C
T
T
C
T
G
T
C
T
G
A
A
T
A
A
A
C
T
A
A
G
A
C
G
C
A
G
T
T
T
G
T
C
C
A
T
C
A
C
C
T
G
T
T
A
G
19300
T
G
G
A
C
T
T
T
G
C
T
T
G
C
A
G
C
T
G
T
C
G
G
T
G
A
T
T
A
G
G
A
A
T
G
G
A
G
G
T
G
C
C
G
G
T
G
T
G
T
19350
G
C
A
T
G
G
C
A
C
T
C
T
A
T
C
C
G
T
T
A
T
G
C
A
T
G
T
T
T
A
T
T
T
T
C
T
G
C
A
T
C
T
G
T
T
A
A
T
G
T
19400 |
REPEAT
T
T
T
A
A
C
A
T
C
T
T
T
C
A
G
A
C
C
C
A
G
G
A
C
T
G
C
T
C
C
T
C
C
T
A
G
G
G
C
C
A
G
T
T
A
G
T
T
C
C
19450
C
G
G
G
G
G
T
G
G
A
C
A
G
C
T
T
G
C
C
T
A
G
A
A
C
C
C
A
C
C
T
T
G
C
C
A
G
G
G
C
T
G
T
G
A
C
C
C
C
C
19500
G
A
C
C
C
C
C
T
A
T
C
A
A
A
G
T
C
T
C
A
C
A
C
T
A
A
G
C
C
A
A
C
G
T
T
T
C
C
C
C
G
C
C
C
T
G
T
G
C
C
19550 |
REPEAT
A
G
G
C
A
C
C
A
G
G
C
A
G
C
G
G
G
A
G
A
C
A
C
T
G
C
T
G
C
A
G
C
T
C
G
A
A
G
C
C
T
G
C
C
G
G
G
G
C
G
19600
C
C
G
G
C
C
C
C
T
C
T
G
C
G
G
C
T
G
C
T
T
G
C
G
C
C
A
T
C
C
T
G
C
C
C
C
C
T
C
C
T
T
C
C
C
A
G
G
G
G
19650 |
var(19621):[C:0.03]
|
var(19628):[C:0.04]
A
G
G
C
C
C
C
A
G
T
G
A
A
G
G
C
C
C
T
G
G
C
C
A
G
G
G
C
T
T
C
C
C
A
G
C
C
C
C
T
T
C
T
G
C
C
T
C
C
G
19700
G
A
C
C
G
G
C
C
T
G
G
G
T
G
C
T
T
C
C
C
G
T
G
T
G
G
C
C
C
G
G
C
C
T
G
G
G
G
C
G
A
C
G
T
G
G
C
C
C
T
19750 |
var(19724):[C:0.01]
|
var(19726):[T:0.01]
|
var(19742):[T:0.01]
C
C
T
C
T
C
A
G
G
A
A
G
C
G
T
G
G
T
A
A
T
C
T
C
T
C
A
A
T
G
G
C
T
G
G
C
C
T
C
C
G
G
A
G
T
T
G
T
CA
19800
CTCAGGCTCC CTTGTAAGTT AAGGCCGGGC CCAGGACACT CTAGGGCAC
G
19850 |
var(19850):[A:0.02]
CAGCTGCTGT GGGACTGCTG GGTTAGGTG
T
CCCCTGGAGC AGAGGCGGCT
19900 |
var(19880):[C:0.01]
TCGGATTTCT AAAGTGGCTG AGTCCTTTCA CCTTGCACCA GAAATGCTGG
19950
ATCAGGCGCA GCACACACAG CACCTGGGGA
T
GCAAGCCCG GCCAGCCCCA
20000 |
var(19981):[C:0.01]
TGGACCAAGC CCCGCCGACC GTGTGGCCCG CCGAGCCCAG GTGCGGC
C
GC
20050 |
var(20048):[T:0.01]
CCGGCTTCTG CAGGCAATGT CTGCCAAGCC CTGGAATGTG CTCCCAGTGT
20100
GTGCACAGAC
T
T
C
A
A
T
G
A
A
T
A
A
A
A
C
G
C
A
C
C
G
T
C
A
C
C
A
C
G
T
G
T
G
C
C
G
T
G
C
T
20150 |
REPEAT
T
T
G
C
A
T
T
T
T
C
T
A
T
T
C
A
A
G
T
G
T
C
T
T
C
T
A
T
T
T
C
A
G
T
C
T
G
T
A
G
G
A
A
A
G
G
C
T
G
G
20200
A
T
G
C
A
A
C
C
C
A
C
A
A
A
A
C
T
G
A
T
T
T
C
T
T
G
A
C
C
C
A
C
GGTTGGAA GCTCGCTGCT
20250 |
var(20232):[T:0.42]
TAGGACGGA
A
C
A
C
C
T
G
G
T
A
G
T
G
G
G
A
T
T
G
T
C
A
G
G
G
G
T
T
T
G
C
A
C
T
G
G
G
T
T
T
T
20300 |
REPEAT
A
G
G
A
G
A
T
A
A
T
G
C
C
A
A
C
G
T
G
T
C
T
T
C
C
A
C
G
T
G
A
C
T
G
T
G
C
C
G
T
T
T
A
C
A
C
T
C
C
C
20350
T
G
T
C
T
G
C
A
G
A
C
A
G
G
C
G
C
T
C
C
C
G
C
T
G
C
G
C
T
A
A
T
C
C
G
A
G
C
T
G
G
C
A
T
T
T
C
T
T
G
20400
G
C
A
T
T
TGCCT GCCTCGCGGG GTAAGGTACA CAGCGTGCGT ATGAATCCTC
20450
AGCGGCATGA CAAGGCATTT TCTTTCACAG ACTGAAGAAT ATTCGCATAG
20500
AGCCGGCACC CAGGAATCCC CTGCCCAGCC
C
GGCCGGCCA CGACCCGCCC
20550 |
var(20531):[T:0.01]
GAGGTCACCC AACACCTCTG CCCCGCGTTG CCTGGCCCTG GGTTCTGTGC
20600
GTGGCCGCGC CAGGCGTGCC CTTCTGTCGG CT