F10 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
GCTTCAGTTC AGGACGCACC CAGACCACAG GAGGAAACTA GCGGGAGTCA
50
GCCGGGGTGC TGGTGGAGCG CCAGCTCCCT TCCTGCCAAT GGGAAATGCA
100
GGCGCCCACC TCATGGTGCT GCCGGAGGAG GGGGCCCGGG ACTCCCCAGA
150
G
G
CTTCGCTG AAGGGC
C
TGG GCGCCCCCAA AGGCTACATG TTTCATATGG
200 |
var(152):[C:0.04]
|
var(167):[T:0.01]
GACGTGCCAC CTGCCACGGC TCAGCTCCAG CTTTCTGTGA GTGGCGAGAT
250
AGAATACGGG GAGGCCACTG GCCATGGGCC TGGGACAGGG TGGGATGAGG
300
CGGCAGGCTT GGGCCACCAA AGCCAGCATC GCCACCCAGC ATTGATGACA
350
AAGACTGCGT GTCTGCCAT
G
AGCATCCTGC TGTTGGTGCA CACACCGCAT
400 |
var(370):[A:0.01]
TGGTCTCTCC ATACAAACAT GCCTAGAGGC GATGTCAGAG GGTGGAGACC
450
AGGAGAGGCA GGAGTCAGAC ATCTGGTGCC ACCAGGAAGG CCCTTCTCAG
500
AGGACCAGGC TGTGCGTGGT GCCCGCCGTG GGAGGCCAGC CTGGCGTTGG
550
CATCCAGCAT CATCAGTTTG TGCAGT
C
GGG TGGGGCTCAG TGAGTGCCTC
600 |
var(577):[T:0.33]
CTGTGTGCCA GGCACAATGA CGCACAATGT GTGCACACCA GGCTCATGTG
650
CAGGTGGCTG CGAGACAGGG
C
GACCCATCA AGGCAGATGC ACCATGAGGC
700 |
var(671):[T:0.01]
AGTGGCCAGT GC
T
GTGGGTG TTAGGGGCAT TGCTCCCCGG CCACTACGGC
750 |
var(713):[C:0.12]
ATAGCAGGCA GTGATCGCCA CACTGGCCAA GCTTTAGACC ATTTATTCCA
800
GAGACCCCAG AGGCAAAAAG CCCGGCTGCA CCTCCCAGTG ACTCCCACAG
850
C
CATTGAGCA GAGAC
G
CTCA GGACCTTGT
G
ATGGGAGGTT TCTGCACTGG
900 |
var(851):[G:0.01]
|
var(866):[A:0.02]
|
var(880):[C:0.05]
AGAACGAGCC CAGAAGCCCT CTCAGCCTCG GAACAGTGTG GCCAGTGGTG
950
GGCAGGTCAG GAGGGGCTTC AGACACAGCC TGTCCCTCCA GATGGTCACG
1000
GGAAGGTCAC TCCCCACAGA AGTACGTTTT GGGGCCATGC GGGCACAGAA
1050
GGTTTGGGGG TGGGTGGGGC AGGTGCCAGC CTGGCCTGTG GGAGGCCATG
1100
GTGCAGATGC CAAGC
C
CCCC CCCGTGACAT GAGACCACCT GATACCACCC
1150 |
var(1116):[:0.79]
AGAGAGTGGC TGTGAGCG
G
A AGGGCCCGCC CAGAAACA
A
G
C
A
G
G
G
C
C
T
T
G
1200 |
var(1169):[A:0.02]
|
REPEAT
G
G
G
C
A
G
A
A
G
T
C
C
T
G
G
G
C
T
C
A
G
A
T
C
C
C
A
C
G
C
T
C
A
C
T
G
C
C
A
G
C
G
G
C
C
T
C
G
G
C
1250
T
C
A
G
G
C
T
T
C
T
G
C
G
C
T
C
T
C
T
A
A
A
C
T
T
A
G
T
T
T
T
C
T
C
T
T
C
T
G
G
A
A
A
A
A
T
G
A
T
G
1300
G
G
G
A
A
A
A
T
G
A
T
A
T
T
T
G
T
A
T
G
T
G
A
T
T
G
T
G
A
G
G
A
C
T
G
A
G
A
G
T
T
A
A
A
T
G
T
A
A
A
1350 |
var(1319):[:0.57]
C
A
T
C
T
G
G
A
A
A
C
T
A
C
A
A
A
A
T
G
A
G
C
A
C
G
A
A
A
T
G
A
T
G
T
T
T
T
T
A
T
T
C
T
T
AGAAC
1400
AGAAAGTCCC CACACCCGCG GCCCTGGTGA CTGATGAGGA TGAGGTTC
T
G
1450 |
var(1449):[C:0.48]
C
GGGGCCTCT CTGGCCGCCC AGCTCTGCCT GGGGAAGGTG GGGCCAGAGT
1500 |
var(1451):[A:0.33]
GGATGTGTTC CCAGCGTGGT CACTCCCCTG CCTCGCCAGC AGGTCTCGGC
1550
TCCAATCAGG AGGCCTAAGC CAAGTGATAA GCAGCCAGAC AACAGCCATC
1600
CCAGCTGGGG C
G
TGGACTTT GCTCCAGCAG C
C
TGTCCCAG TGAGGA
C
A
G
G
1650 |
var(1612):[A:0.01]
|
var(1632):[T:0.01]
| Exon 1 |
UTR
G
A
C
A
C
A
G
T
A
C
T
C
G
G
C
C
A
C
A
C
C
A
T
G
G
G
G
C
G
C
C
C
A
C
T
G
C
A
C
C
T
C
G
T
C
C
T
G
C
T
1700
M G R P L H L V L L 10
C
A
G
T
G
C
C
T
C
C
C
T
G
G
C
T
G
G
C
C
T
C
C
T
G
C
T
G
C
T
C
G
G
G
G
A
A
A
G
T
C
GTAAGTGCC
1750 |
var(1731):[T:0.01]
S A S L A G L L L L G E S 23
CCTCGCCCTT CAGACCCAAA AGCAGCGCCA GGGAGCAGGG AGGGGCGGCA
1800
GTTGGGGAAA CCCTCTCATC TCTGCAGCCT GGACGGTGGG TGCCTTGAGT
1850
GCTGCCAGAG GCTGGGCTCG GATGGCTGGG CTTGGCCTTT CCAGCCAACG
1900
GCATCCTCAA GGCCAGCTGT GGCTCCCTGG GGCTGAGAGT CAGACGGGCG
1950
GATCAGAGGT CACAGAGACA AAAACACAAG GACAGAGTCA GAGAGAGAAA
2000
GGGAGAGGGA
A
GGAGAAACG GAGACACAGT GAGATGGGAG GCCAAGAGGC
2050 |
var(2011):[G:0.22]
AGAGACAGAG GTAGAAAGAC GGAGACAGAG AGAGAGGGAG GGGTTGGGGC
2100
AGGCAGAGAC AGGACAGTTA GCCATCTGCC ACCACAGGGA GGCACAGGAC
2150
GAGGGGCACA GCAGAGGAGC TCCCAGGGAG GAGGAGGCTG AGCCGAGCCA
2200
GTGCCACCAC TCTCGGACTG GCTCCGTCGG GGAAGGAGCT GCCTAATGCA
2250
CAGCTGGACA GGTGGGGGGC AGCAGGGCTG TCCAGGACCC CCGGGTCTGT
2300
CCAAAAGCAG AGGCCCAGAC AGGACAGAAG CCAGGCAAGC CTGGGGACAG
2350
CGGAGGAAGA GGAGGCCCCT CTGGTGGGGA CACGAGAGAC AGGGACCCTA
2400
GACTTGTTTG CATCCTGGAC AAAGTGGACA GGCAGGGGCA CCAAGGGGAC
2450
CCAGG
C
CTGG GAAGGGAATG TGTGAGGGAG AGACGGAGCA GGGGGAGACC
2500 |
var(2456):[A:0.04]
CTCGTGGGGT GGAAAGGGGA GACCCC
T
GGG AAGGCTGAGT GGATCCTCAG
2550 |
var(2527):[C:0.12]
TGCATCACTG ACCTAAACGG CCCCTCCGCC TGGTGACTTG GAGCTCCAGT
2600
CACATCACAC GGGGGTCTTC TCCATCCCAC CCTCAACCCC CTGCCCTCCC
2650
CAGCCTCTGT CCCCTGAGCC ACATCTTCCT GTCTCCCACG CGGAACGGGA
2700
CTCCCGTCTT CATGGGGTAC TGTGTGGCTC CAACTCGCCC AGCCTTCTTC
2750
CTCCCC
C
TCA GGCCACACTG CCCCCTGCAG GAGCCCACTG TGATGCTTGT
2800 |
var(2757):[G:0.04]
GGTGGGATGA GATCAGCGTG GGTGGAACAA GGCCCTGGAA GGACCCATGC
2850
CATCATCAT
C
G
A
C
A
G
C
A
A
A
G
C
T
A
C
T
C
T
G
C
A
A
A
C
A
G
A
C
A
G
A
T
G
C
T
T
C
C
G
C
G
2900 |
NOT SCANNED
A
A
T
T
G
G
T
A
G
A
A
A
A
T
T
C
T
G
C
A
G
C
C
G
G
A
A
T
G
C
T
C
T
A
G
G
A
T
C
C
T
G
A
G
G
C
C
C
T
A
2950
A
G
C
C
C
G
G
C
C
C
G
G
G
G
C
T
C
C
C
G
A
G
G
C
C
C
T
A
A
G
C
C
C
G
G
C
C
C
G
G
G
A
C
T
C
T
G
G
A
A
3000
G
C
T
G
C
T
C
T
G
G
C
T
T
A
T
T
G
G
G
A
A
T
G
G
A
A
G
T
T
G
G
C
A
G
G
A
C
T
C
C
T
C
T
T
C
C
T
G
G
G
3050
A
A
G
A
A
G
C
A
G
A
G
G
G
T
G
G
G
G
A
T
G
A
G
A
A
G
A
C
A
G
G
C
C
A
G
G
A
G
C
C
C
A
C
C
C
A
G
A
C
C
3100
C
A
C
A
G
G
A
G
G
A
A
A
C
T
A
G
G
G
G
A
G
T
T
A
T
G
C
A
G
A
G
T
C
C
T
G
G
T
G
G
A
G
C
G
C
C
A
G
C
T
3150
T
C
C
C
T
T
C
C
T
G
C
C
A
A
T
G
G
G
A
A
A
T
G
C
A
G
G
C
G
C
C
C
A
C
C
T
C
G
C
G
G
A
C
C
T
C
T
G
G
G
3200
T
C
C
A
C
A
G
G
G
T
A
T
T
G
G
C
A
C
C
C
T
T
A
G
C
T
G
T
G
T
G
A
T
G
C
G
G
G
C
C
T
G
G
C
T
C
A
T
A
A
3250
C
C
A
T
G
G
C
C
T
G
T
G
G
T
G
T
C
C
C
C
G
G
G
G
G
C
C
G
G
C
C
T
G
G
A
C
C
C
T
G
G
G
T
G
G
A
C
A
T
G
3300
G
C
C
A
G
C
C
C
C
G
G
A
G
A
G
C
C
A
G
G
G
C
C
A
G
G
C
C
A
T
C
T
C
T
C
T
C
C
C
C
T
A
C
T
C
T
G
C
C
T
3350
C
A
G
A
G
G
C
C
T
C
G
G
C
A
G
C
T
G
C
A
C
T
G
T
G
G
G
G
T
G
G
G
T
G
G
G
G
C
T
G
A
A
C
A
C
A
G
G
T
C
3400
C
C
A
G
A
A
G
G
T
C
CCACTCAGGA CCCTGCTGTG CACACTTTTG ATTTTAATAA
3450
AATCAGAATG CGCACAGCAT CTGCAGTCTA GCCTTTAAAC GAGCACAGCT
3500
GTCCTGGCAG TCACGGAAGT TCTTCTGGGG CGGTGGGACC TCA
G
C
A
T
T
C
C
3550 |
REPEAT
T
T
T
G
C
T
G
G
T
A
C
T
G
C
T
A
C
A
A
G
A
A
A
G
G
A
C
A
A
T
G
G
A
C
C
A
A
G
T
A
G
C
T
T
A
A
A
G
C
A
3600
A
C
A
G
A
A
A
C
A
T
T
T
C
T
C
C
C
A
C
A
G
C
T
C
T
G
G
A
G
G
C
T
G
G
A
A
G
T
T
C
A
A
A
A
T
C
A
A
G
G
3650
C
G
T
C
A
G
C
G
G
G
G
C
T
G
G
T
T
C
C
T
C
C
A
G
A
G
G
C
T
G
G
G
A
G
A
G
A
G
T
C
T
G
C
T
C
T
A
G
G
C
3700
C
T
G
T
T
T
C
C
T
G
G
C
C
T
C
G
G
G
G
T
G
C
C
A
G
C
G
G
C
C
T
C
A
C
A
G
C
C
C
A
T
G
G
C
T
T
G
T
G
G
3750 |
var(3715):[T:0.09]
|
var(3740):[G:0.39]
G
A
G
C
A
T
T
G
C
T
C
C
C
A
T
C
G
C
T
G
C
C
T
C
C
A
T
C
A
T
C
G
C
A
T
G
G
G
G
T
T
C
T
C
A
C
C
A
T
G
3800
G
C
T
G
T
T
T
T
T
C
T
G
T
C
T
T
C
T
T
T
T
C
T
C
T
C
A
G
A
A
G
G
A
C
A
C
C
A
G
T
C
A
T
T
G
G
A
T
T
T
3850
A
G
G
G
C
T
C
A
C
T
C
T
A
C
T
C
C
C
A
T
A
A
A
A
T
G
T
C
T
T
C
C
T
A
A
C
T
A
A
A
T
A
C
A
T
C
A
C
A
A
3900
A
A
G
T
T
C
T
A
T
T
T
C
C
A
A
T
T
A
A
G
G
T
C
A
G
G
T
T
C
T
G
A
G
G
T
T
C
T
G
G
G
A
A
A
G
A
C
A
T
G
3950
A
A
T
T
T
G
G
A
G
G
G
A
C
A
T
T
A
T
T
C
A
G
C
C
C
T
G
TCC TGCCACCTGT GAGTGTTTTC
4000 |
var(3977):[C:0.01]
TGCAATCCAA CTTTTTATTT TAATAAAATC AGAATACGCA GAGCACCTGC
4050
AGTGCCAGCC TTTAAACTAC TGCTGTTGTA CTGGCAATCA TTAAAGCTA
C
4100 |
var(4100):[T:0.01]
GTGGCTTCAG TTTCAATCTT TACATTCAAC AAGTTTAAAC CCATTCTTCA
4150
TGAGTTTGGA CCTTACTGAC TGAAAATTTT GCTTGCTGGT AAAACTTGCT
4200
CAAATGCAGT TGCTGACTGT GGAATTCACT GATGTTGCCA AAACAACAAA
4250
CACAACTGTG TGCTCGAGGA TTGCAATGCT CCCAACAGCT TCTGAAGAAA
4300
CAAACCACAC GACAAATGTC TACCAATCTG GATGCTCCAT ATCAGAGTTC
4350
TAGAGTGTTC CATTAATTTC TTGAGACAAG TGCCTAAAAA CCTTGTTTTA
4400
ATTTCGTTTT GCCAAAATCC CATTTTACTC ACATCAGAAA GTGTGGCCAC
4450
GTGGCCCAGA CCCGGCCTGC TCAGTCTGAC TGAAGCGTTG ATGCGACTCA
4500
GCCATAACAG ATAGCAGAAG CGCCCAGATT CAGTCCAGAG GGC
T
GAGCCA
4550 |
var(4544):[C:0.19]
GGCACGCCAT CTTTCC
T
T
C
A
T
T
C
C
C
T
C
A
A
C
A
C
A
T
A
T
T
G
G
T
T
A
A
G
T
T
C
C
G
G
4600 |
REPEAT
C
C
G
T
G
C
T
A
G
G
C
A
C
G
G
G
C
A
T
A
C
A
G
C
T
G
T
G
A
C
C
A
A
A
C
A
C
G
T
C
A
A
G
T
C
T
T
T
T
T
4650
C
C
A
G
C
G
G
A
G
G
G
A
A
G
G
A
T
A
A
G
C
C
T
G
T
C
A
G
C
A
T
G
T
A
A
T
G
T
C
A
G
A
G
A
G
G
G
G
T
T
4700
G
G
G
T
G
C
T
A
G
A
A
G
A
C
A
A
A
T
A
G
C
A
C
A
G
T
G
T
A
A
G
G
G
G
A
T
G
A
A
A
G
A
G
A
C
A
C
G
A
G
4750
T
G
G
G
G
G
C
A
A
C
G
T
C
A
G
A
G
G
G
C
G
T
G
G
T
C
A
G
G
G
A
G
G
G
T
G
T
C
T
C
G
G
A
G
G
G
C
G
C
T
4800
G
G
G
C
C
T
G
A
G
C
C
A
C
T
T
G
G
G
T
A
T
C
T
G
T
G
G
A
A
A
G
A
A
T
G
T
T
C
C
A
G
A
C
A
G
G
G
A
G
G
4850
T
G
A
C
T
G
G
T
G
C
A
A
A
A
G
T
C
C
T
G
G
G
G
T
G
T
G
A
G
T
G
T
T
G
G
G
C
T
C
A
G
C
C
A
G
G
G
T
C
A
4900
G
C
G
C
A
G
A
G
C
C
C
A
G
T
G
T
G
G
C
A
G
A
G
A
G
A
G
G
T
G
A
A
T
G
A
G
G
G
C
A
G
A
G
T
T
G
A
A
G
G
4950
T
G
G
T
G
A
G
G
C
C
T
G
G
G
A
G
G
CCT GGCCATGGGA AGACCCTGGG CTCTGTTCTA
5000
AGACCACTAG AGGCAGATTC TGGGTAGTCC TTGACTTCCT TGCATCACCC
5050
TTTCCACCCC GTGCCTGCCA CCTGTACCCT CTTCCTCACA CAGTCCAGCT
5100
CAACCTTATA GGCCGTGTCC TACCCCC
A
TG AGCTGGGGAG AGCTGAGCAG
5150 |
var(5128):[G:0.01]
GCTTCAGGGA GATGGGAAAA GGCGGGAACT GGACAGGGGC TGCAAAGGAA
5200
AGGTGACTTC TTACTGGTCA ATCAGCCTGG GGATGCTCGG GGGTGGATGC
5250
CAAGGGGAAC AGAGCTGTGG CCGCTATCAC AGAACAGCGA GTTCCTCTA
A
5300 |
var(5300):[C:0.02]
GAGGTCAGAG GAGGCGCAAG GGATCGACCA GAGACAGTGA GGGCGTCAGG
5350
CTCCAGTTGA GTGGGGACCA ATCCTTGTGG CAAGTCTGTG AACCATCACT
5400
GTGGCTCTAG GG
T
AGCAGAG AAAAAAGCAG GCATATGTCC ATCTGGCCAC
5450 |
var(5413):[C:0.13]
AAGGAAGGAG ACCAAGGGGA AGAGAGAAGG TACCAAGAGA GGTGTTCACA
5500
TGGAGGTGCG TCAGAACACC
G
AGGGCAAGG CAGAACGCG
G
T
C
T
T
C
A
G
A
C
C
5550 |
var(5521):[A:0.11]
|
NOT SCANNED
C
C
A
A
C
T
G
G
A
G
C
C
C
A
G
G
A
G
G
C
C
C
G
C
G
A
G
T
C
C
C
A
G
T
T
T
G
G
G
A
A
A
C
A
C
T
A
A
G
C
5600
C
A
G
G
C
T
T
G
G
A
T
A
A
C
T
T
G
T
C
T
G
A
G
G
C
T
G
T
G
G
T
C
A
T
C
C
C
A
A
C
A
T
G
A
G
A
G
C
C
A
5650
G
A
G
G
C
C
C
C
A
A
G
G
G
A
G
A
T
G
G
G
C
A
T
T
C
C
C
C
A
C
C
C
C
T
C
A
G
C
T
T
C
C
T
C
A
G
T
G
C
C
5700
T
T
T
T
G
T
G
G
A
G
T
G
G
A
G
G
T
G
A
C
A
T
G
A
G
G
C
T
G
C
A
G
G
T
T
G
C
A
G
G
G
A
G
C
C
A
C
G
T
G
5750
T
G
G
G
C
T
G
C
A
T
T
T
C
A
G
A
G
C
A
A
G
T
G
T
G
T
G
G
G
A
G
T
G
G
A
G
C
A
G
A
C
A
C
G
C
A
G
A
G
T
5800
A
A
T
G
G
G
G
C
A
G
G
G
T
C
A
A
G
A
A
A
T
A
A
T
A
A
A
T
C
T
A
A
G
T
C
T
A
G
C
G
T
T
G
G
T
G
G
G
A
T
5850
A
A
T
G
T
C
G
G
T
G
T
C
A
C
T
A
A
A
A
G
A
A
A
T
G
G
G
G
A
A
T
T
T
G
G
A
A
G
G
T
A
A
A
G
T
A
A
C
T
G
5900
G
A
G
G
T
A
G
G
A
A
T
G
A
A
C
C
C
A
A
G
A
T
T
T
A
C
T
A
A
G
C
A
C
C
T
T
C
T
G
T
A
T
A
C
C
A
A
A
C
T
5950
CAACACTAGG AGTTTATACA ATCTTTAAAA CAGCTCTAAG AGTAGA
T
ATT
6000 |
var(5997):[C:0.01]
ATAATTCCCT TCTGCCAATA ATAAATAATA AGTGACTAAG GTGTTTTTGA
6050
AGCTCAAGAT TGCTTGATTC TGCAGTCTTG TTTTAAATTT TGGACAT
G
GA
6100 |
var(6098):[A:0.03]
GAGTTTGGA
G
TTCTGAGATG AGGGAAGGCA TCTGTCATAG TGAGAGAGCT
6150 |
var(6110):[C:0.01]
GAAAACATGG AGCTCAGGAC AAAAGTCAGT GCTAGAGAGA TCAGTTGGAA
6200
GAGTTATCTT TATTGTAGTG AGACATTGAA TTTTTCAGTG GAAAAAAAGC
6250
ACAGAAAAAG ACTACAGAGG GCCAAGAAAA GAAACTGAGG CTGTCAAAAT
6300
GAAAAGAGGA GGAGGAGTGG GTGAGAGACA AAGGAGACAC AGGCAGAGAG
6350
ATGTGGACAG CACAGCCCAC AGACACACAC TCTACAAGGG ACACAGACTC
6400
TCGGATCCAG GGCATTTTAA CCAGCAGATC AAGACTCATT TGCC
A
GTCAT
6450 |
var(6445):[C:0.06]
GAAATCAACT CAGTATTTTT TTTTAAAAGA GTAGAATCAA ATAGAAAACT
6500
TTGTACTAAG TACTGTATTT TAGGAAATAC TAATAAATAC TATTTCTTGA
6550
AAGTTGGCAT GTATGTGTGT CCTGGCACTT CATAAATTGT ACTATTATAG
6600
TTTGTAATTG AAACAGCATC ACCAATCCCC ACATAAC
A
A
A
G
AGCAGAGAC
6650 |
var(6638):[:0.99]
CTTAAAGACG AGTGGGGCCA GGCTGAAGGG GCACAGCTTG AGCCAAAGCA
6700
CAGAACAGTG GGCTGAAAGC ACCCTAGGGA GGGAGAATTC AAGGAAGGGG
6750
GCTTGGGTGG CCAGGCTGAG CCAGCGTGAG CATGTGAGGA GGCTGGTGAG
6800
CTGATTGGGT GGGATGTGTC TACTTCTCCA GAGAAGGGTG CATGGGTCTA
6850
GAGCAGGTGC CTCATGCTGT ACCTCATAGA GAACTGGGGG GAGGGGGGAA
6900
ATGGGCATTT CCCTCCACAG CCCCCAAAGT GCCTGAGGAA AG
T
G
T
T
G
A
T
A
6950 |
REPEAT
A
A
G
A
A
G
C
C
A
A
A
C
T
C
T
G
T
A
A
A
A
T
A
T
T
T
G
A
A
G
A
G
A
T
T
T
A
T
T
C
T
G
A
G
C
C
A
A
A
T
7000
G
T
G
A
G
G
A
C
C
A
C
G
A
C
C
C
A
T
G
A
C
A
C
A
G
C
C
T
T
G
G
A
A
G
G
T
C
C
T
G
A
G
A
A
C
A
T
G
T
G
7050
T
C
C
A
A
G
G
T
A
G
T
T
G
G
G
T
C
A
C
A
G
C
T
T
G
A
T
T
T
T
A
T
G
T
A
T
T
T
T
A
G
G
G
G
G
A
C
A
G
A
7100
A
G
T
T
A
C
A
T
A
C
A
G
A
C
A
C
C
A
A
T
C
A
A
T
A
A
G
C
A
T
A
A
G
T
T
G
T
A
C
A
C
T
G
G
T
T
C
G
T
T
7150
C
C
A
G
A
A
A
A
G
G
G
G
A
A
G
G
T
G
G
G
G
G
C
T
T
C
C
A
G
G
T
C
A
T
A
G
G
T
G
G
C
T
T
C
A
A
A
G
A
T
7200
A
T
T
C
T
G
A
T
T
G
G
C
A
A
T
C
A
G
T
T
G
A
A
A
G
A
G
T
T
A
T
T
A
T
C
T
A
A
A
G
A
C
C
T
G
G
A
A
T
A
7250
A
A
T
G
G
A
A
A
G
G
A
G
T
A
T
C
T
G
G
G
T
T
A
A
G
A
T
A
A
G
A
G
G
T
T
G
T
G
G
A
G
A
C
C
A
A
G
G
T
T
7300
C
T
T
G
T
T
A
T
G
T
A
G
A
T
G
A
A
G
A
C
T
C
A
T
A
G
G
T
G
G
C
C
A
C
C
C
T
T
A
G
A
G
G
G
A
A
T
A
G
A
7350
T
G
G
C
A
A
C
T
G
T
T
T
C
C
T
C
T
T
C
A
G
A
C
C
T
T
T
A
A
A
A
G
G
T
G
C
T
A
C
A
C
A
C
A
T
G
G
C
C
A
7400 |
REPEAT
G
G
C
G
C
C
T
T
G
G
C
T
C
A
T
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
7450 |
var(7437):[A:0.01]
T
G
G
A
T
C
A
C
T
T
A
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
7500
A
C
T
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
T
G
C
T
T
G
7550
C
C
T
G
T
A
G
T
T
T
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
A
C
A
G
T
A
G
A
A
T
C
T
C
C
T
C
C
T
G
A
7600
G
G
C
A
G
G
A
C
A
A
T
G
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
T
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
7650
T
T
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
T
G
A
C
A
G
A
G
C
A
A
A
A
C
A
C
C
A
T
C
T
T
A
A
A
7700
G
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
T
G
C
T
A
G
A
C
T
C
T
C
A
G
C
T
C
A
G
A
7750 |
REPEAT
|
var(7742):[T:0.01]
A
A
A
A
G
A
C
C
T
G
G
A
A
T
G
G
T
A
A
G
G
G
G
G
T
T
C
T
C
T
A
C
A
G
A
A
T
G
T
G
G
A
T
T
T
C
C
C
T
G
7800
A
G
A
T
A
G
C
T
T
T
G
C
A
G
G
G
C
C
A
T
T
T
C
A
A
A
A
T
A
T
G
T
C
A
A
A
C
A
A
A
T
A
C
A
A
T
T
T
G
G
7850
A
G
T
A
A
A
A
T
C
A
T
T
T
A
T
T
T
T
A
G
G
G
C
C
T
G
C
T
A
T
A
T
G
T
C
A
T
G
T
G
A
T
C
C
T
A
T
A
C
T
7900 |
var(7884):[A:0.01]
|
var(7885):[T:0.01]
A
G
A
G
A
A
G
T
C
A
G
G
T
T
G
G
A
A
A
C
T
G
G
T
A
T
C
T
T
A
T
T
G
C
T
A
C
A
A
A
G
A
C
T
C
T
G
T
T
T
7950
G
G
T
C
A
G
C
C
T
C
A
A
G
G
T
C
T
C
T
T
A
A
C
G
T
G
A
A
T
G
C
T
G
G
T
C
A
G
C
T
G
T
G
C
C
C
G
A
A
T
8000
T
C
C
A
A
A
G
G
A
A
G
A
A
A
T
A
A
T
G
A
G
G
C
G
T
G
T
G
G
G
A
C
C
T
G
C
T
T
C
C
C
C
T
C
A
T
G
G
C
C
8050
T
C
A
A
C
T
A
G
T
C
T
T
T
C
A
G
G
T
T
C
C
T
A
T
G
G
A
A
T
T
C
C
C
T
T
G
G
C
A
G
A
G
A
G
G
A
C
G
G
G
8100 |
var(8095):[:0.01]
T
C
C
A
C
T
C
A
G
T
G
A
G
T
T
G
G
G
G
G
C
T
T
A
G
A
A
T
T
T
T
A
T
T
T
T
T
G
G
T
T
T
A
C
A
AGAGA
8150
GTGATCCGCC TTTTGTGATC TGGATATGGC AAGGGACATG GCAGTCAGGG
8200
AGCATAGGTG AGGGGGAGCC TGGGTGAGGG TGACCAGAGC TTTTAACCCT
8250
GTCCTCCCTG CCTTCCAG
T
G
T
T
C
A
T
C
C
G
C
A
G
G
G
A
G
C
A
G
G
C
C
A
A
C
A
A
C
A
T
C
8300 | Exon 2
L F I R R E Q A N N I 34
C
T
G
G
C
G
A
G
G
G
T
C
A
C
G
A
G
G
G
C
C
A
A
T
T
C
C
T
T
T
C
T
T
G
A
A
G
A
G
A
T
G
A
A
G
A
A
A
G
G
8350
L A R V T R A N S F L E E M K K G 51
A
C
A
C
C
T
C
G
A
A
A
G
A
G
A
G
T
G
C
A
T
G
G
A
A
G
A
G
A
C
C
T
G
C
T
C
A
T
A
C
G
A
A
G
A
G
G
C
C
C
8400
H L E R E C M E E T C S Y E E A 67
G
C
G
A
G
G
T
C
T
T
T
G
A
G
G
A
C
A
G
C
G
A
C
A
A
G
A
C
G
G TAAGGGCTGG GGATAGCCTG
8450
R E V F E D S D K T 77
GCTGTTGGTA AGGAGCTCAG GCCACAGCGC CCTCGCTGGC CC
C
GCTGCTC
8500 |
var(8493):[T:0.27]
CGTCCATCCA GGGGGGC
G
GC CTGGAGGAAG GGGCAGCGTG CGCGAAGGCT
8550 |
var(8518):[A:0.01]
TTCAGGGGCG GGGCCCAGCA AATCGAGGCC TCGGCGGAGT CCTGCCCACA
8600
GGGACATCAG TGCCGCCCCC GCGCTGACTC CTTCCCGGCG AGGACTCAGC
8650
GGGGAGGGAT GCGCCCAAGT CCCTTGAGGG TCACAGGGCT TCTGCCAGAG
8700
TTAAGTTCTA TTTAAAAATA AAA
T
GTTAAC CTAAAAACCA ATAGTCATGG
8750 |
var(8724):[G:0.11]
TCTCGGCCAG CGCCTCGCCG AGTTGCAGTG AGCTGAGATC GTGCCCTCCC
8800
ACGCCCGCAG CCCGCGTCCT GCCTTGGCCT CCGTAGTCGC TGAGAGCCAC
8850
AGCCTAGAGC GCCAGCGCGC AGGCGCACAA CTGACGCCAG GCCACGAACC
8900
CAGTACTGC
G
CCTGCACAGC AGAAGCACTA GCACTGAGGC CGGGC
C
GCGA
8950 |
var(8910):[T:0.24]
|
var(8946):[G:0.44]
ACCCGGCACT GCGCCTGCGC AGCAAAAGGA CACGCACTGA GGCCAGGCCG
9000
CGAACCCAGC ACGGTGCCTG CGCAGCAGGA AGACCGGCAT CC
A
CACCGGA
9050 |
var(9043):[C:0.03]
CGACGAACCC AGCATCGCGC CTGCGCAGTA GGAGGAGAGC
A
ATGCCACCA
9100 |
var(9091):[G:0.14]
GGCCGCGATT GCGCAGCCGC AGCAGCCCCG CGCGGAAGAC GCTACC
C
TCC
9150 |
var(9147):[T:0.11]
TCTCCCCCGA AGAGGCGGGG CTTCGAACGA ACCTGGAAAT GGCCGAGGGG
9200
TCTCGACTTC CTCACCCCAG GC
A
TCAGGAA AGGTGCCTGC AGGACAGGGC
9250 |
var(9223):[G:0.12]
TCTGAAGTGG AAGTGGGCGG TGGTGATGCC GAACTGACAA GAATGAGCTG
9300
AAGAGAAGAA AGTAGCCGAG AAGGGGGCCA AGCCGGAGCT CAGTGAGCAA
9350
CAGCTAGGCC AGCCGCGGCT GGTGCCATCA GCCACACCAC TAACTGTGGA
9400
CCCAAATGGA AACTTTGAGG CCCCTTACAG GTCCCCCAGC GCAGGCCACC
9450
GCCGAAGGTT ACTGGGGAAG ACCCCTGCAG CTTCCATGTG GACATTACTC
9500
G
CTTGCTTCA TCCCGGAGTG CAGTCACCTG CAGCCTGGGA CCACCTGACT
9550 |
var(9501):[T:0.11]
GATGTCACCC TGGAGATCCA TGCCAAAAGA GCTGGGGAAA GTTCACCTTC
9600
TAATGAC
C
CC TGCGGACCAG GGTGAAGTTA CAAGTTATGG CCAGGTCAAG
9650 |
var(9608):[A:0.01]
GAATTATAAG TCAATAAATA AACTGCCTCA GGGAGACGTA CTCAGAGTCC
9700
AGGAAAAT
C
T AGGAAACACC AAGAAGGGCG AGCGCAGCAT CAGCCCCTGC
9750 |
var(9709):[T:0.01]
AAAATTGCAC TGCTGCCTCC TGGCTCACAT GTTGCCCCAT CCTTACTTTA
9800
GCCTCAAAGG CAAGGAGACC CAATATTATT TGAGTACTTG GATTTGATCC
9850
TGAGTGACTT TCTGAGAAAG CAGTGTATCA TCTGCCCTAA GATCACCACA
9900
TATATGACAA GGTTTTTGGA TGAGTTGAGA TTTCTAGACA TTGAAACCCT
9950
CATGATGAAC GTCATCCCGG GTAGCAGGGG CTAAGCCTTT CATCACCTGC
10000
TACAACAAGC TGGACATTAA CTTGTATTTG AGAATTGCTC CAGGACTCTA
10050
CCTTCAGATG CTGGTTAGTA GCATTGACTG GATTTATGAA ATTGGATGCC
10100
AGTTAAGGAA TAAGAGAATG TATTTGATTT GCCACCCTAT ATGGTCTGTG
10150
CAGACTGTCA TGATCTCATT GAAATCCAAG AAAAGATTAT GTCAGGGATG
10200
AAGCACATCA CAGGTGGTTA CAAGGTCACC CACCATCCAG ATGGCTCAGA
10250
AAGCCAAACC TATGGGTTGA CTTCTCCTCA CCCTTCTGGA GAATCAGTGT
10300
GGTAGAAGAG CTTGAAAAAG TGCTGGGTGT GACGCTGCCA GAAACTAACC
10350
TCTTTGGAAC TGAAGAAACT CAAAAAATTA TTGGTGATAT CTATGTAACA
10400
AAAGCTTTTG AAAGTCTTCT ACCTCAGAAC ATATTCAGGC GCCTTGATAA
10450
ACTTGTCAAG GAGTTCCTGA AAGTGACTTA CATCAGTCCC ACATTTATCT
10500
GTTATCACCT GCAGATAATG AGCTCTTTGA CCAAATGATC TCTCTAAGAG
10550
GGTCTCACTG AGCACTTTGA GCTATTTGTC ATGAAGATAG CTGAATGTTT
10600
CCATGCAGCA ACAGCAGCAG CTGTTGA
C
AA ACAAGACAAG GCCAGCAAAG
10650 |
var(10628):[A:0.07]
ATGATGAGGC CACATTCATA GATGAAAGCT TCCATGCAAC CCTGGAATAT
10700
GGGCTTCC
G
C CCACAGCTGG TTGGAGCGTG ACAATCAAAT GTGTTACCAT
10750 |
var(10709):[A:0.01]
GTTTCTCACA GACTCCCACA ACATCAAGGA AATATTTCTG ACTCCTGGCA
10800
TGAAACTTGA AGAAAGAGAA TGTAGCAGCC ACTAATACAA TGGAAAGCGC
10850
AACATTGACA CGTCTATCTA GAAAATTTTA ATTGTCTAAG TTGTGTGACT
10900
CAGATATCTT TGCATTTCTG CAAAAGATCA AGGTCTACTC TAATTCTTAA
10950
TTAAATTAAG AATTCCTTTT TATTACTTGT TAGCAAATAA ATGGCTTGTC
11000
TCTAACAGAA AAAATTTAGA ATTTTCGGAA ATATTTTCAA ATACTTCTTA
11050
TATATACATA TATTTTTTTC CACTGGTAGA ATTTTTCTTT AGTAAAAGTA
11100
AATAATGCTG ATCCAAGTTT ATGTTTCACT CAGCATCGTT TCTCAAACAC
11150
TCTTCTTTAC TTATATATAG CTACC
C
TATA GCTAAGCTAT ATTTTATTGT
11200 |
var(11176):[A:0.01]
ATGATGCATT TACTCTTTTC AGAGTTTGGC CATATAAGTT ATTTCTAAAT
11250
ATTGCTATTA GGAAAACACA TATGCATGCA TTTCTTCTAG ATTATCATCT
11300
AAGAGTGGCT TCTCCAGAGA GAGACGACTG AATTAAAGGT TATCAAC
A
A
G
11350 |
REPEAT
T
T
C
C
A
A
T
T
C
C
A
G
A
T
A
A
G
A
T
G
A
A
G
A
A
A
T
C
A
C
A
T
T
C
C
A
C
A
C
T
G
C
C
T
C
T
C
C
C
A
11400
C
T
G
A
G
T
G
T
A
G
C
T
C
C
A
A
A
A
C
A
T
G
G
A
T
A
G
A
A
T
G
C
A
T
G
T
A
G
C
A
G
C
T
A
T
T
T
G
A
G
11450 |
var(11450):[C:0.26]
G
A
C
C
C
T
A
A
A
A
A
G
T
A
A
A
T
C
G
C
A
G
T
G
T
A
T
T
G
C
A
G
A
A
T
A
A
G
A
C
T
A
C
A
A
T
T
A
G
A
11500 |
var(11468):[T:0.02]
T
G
T
A
T
G
A
T
A
T
G
A
T
A
C
A
A
C
T
G
G
C
T
G
T
G
A
G
T
T
T
A
T
C
A
T
T
T
T
T
T
C
C
T
C
C
A
G
T
C
11550
T
T
C
C
A
G
A
C
A
T
C
A
C
T
T
G
A
C
C
T
G
A
A
T
C
T
A
A
T
G
G
A
C
A
T
T
T
A
T
A
G
G
A
T
T
C
T
C
A
A
11600 |
REPEAT
C
A
A
T
A
G
C
A
A
A
G
T
A
C
A
C
T
T
T
C
C
T
T
C
C
A
C
A
T
A
T
G
G
A
A
A
A
T
T
C
C
T
C
A
A
G
G
T
A
G
11650 |
var(11631):[C:0.01]
A
C
T
A
T
A
T
C
C
T
G
T
G
T
C
T
T
A
A
A
G
C
A
T
A
C
C
T
C
A
A
T
A
A
A
A
A
G
A
T
T
G
A
A
C
T
C
A
C
A
11700
T
A
A
A
G
T
A
T
G
T
T
T
T
C
T
G
A
C
C
A
T
A
A
T
G
G
A
A
T
T
A
A
A
G
T
A
A
A
A
A
T
T
A
C
T
A
A
C
A
G
11750
A
A
A
A
A
T
A
A
C
T
G
G
A
A
A
C
T
T
C
C
C
T
A
A
G
T
A
C
T
C
G
G
A
A
A
T
T
A
A
G
T
C
A
C
A
C
A
T
G
T
11800
A
T
A
A
A
T
A
A
T
C
T
G
T
G
A
G
T
C
A
A
A
G
A
G
A
A
A
A
T
T
T
T
A
A
G
G
G
G
A
G
T
A
A
G
A
A
A
G
T
A
11850
T
T
T
T
G
A
G
C
T
G
A
A
C
A
A
A
A
A
T
G
A
A
T
A
T
G
T
A
A
C
A
T
A
A
A
A
T
C
T
G
T
G
G
G
A
T
G
C
A
G
11900
C
T
A
A
A
A
A
A
G
C
A
G
T
G
T
T
T
C
A
A
G
G
G
A
A
A
T
T
T
A
T
A
G
C
A
T
T
A
A
A
T
G
C
T
C
A
C
A
T
G
11950
G
G
A
A
A
A
G
A
A
A
G
A
C
G
G
T
C
T
C
A
A
A
T
T
G
T
T
T
A
T
G
T
A
A
G
C
T
T
C
C
A
C
T
T
T
A
A
T
A
A
12000 |
var(11962):[G:0.34]
A
C
T
A
G
A
A
A
A
A
A
A
G
A
A
A
A
A
A
A
T
A
A
A
C
C
A
A
A
A
G
G
A
A
A
T
T
G
A
A
A
A
A
G
C
A
G
A
A
A
12050
T
C
A
A
A
G
A
A
A
T
T
T
A
A
A
A
C
A
A
A
A
A
T
A
A
T
A
G
A
C
A
A
A
A
T
T
A
A
T
A
A
G
C
T
G
A
T
G
A
A
12100
A
C
T
C
A
A
A
C
A
A
G
A
C
T
G
A
C
A
G
G
A
A
T
A
A
A
A
A
C
A
A
A
C
A
A
A
C
A
A
A
A
A
C
A
A
G
A
A
A
A
12150
A
G
G
A
C
C
T
A
T
G
T
T
G
G
A
A
A
T
G
G
A
A
G
A
G
A
G
G
G
G
A
C
A
T
C
A
C
T
A
C
A
G
A
A
A
C
T
G
T
A
12200
G
A
T
G
T
T
A
A
A
T
G
T
A
T
A
A
T
A
A
G
A
A
A
A
T
A
C
T
T
T
G
A
A
C
A
A
C
T
C
T
G
C
A
T
A
T
A
T
A
A
12250
A
T
T
T
G
C
A
T
G
A
G
A
T
T
T
G
A
A
C
T
T
G
G
A
T
G
A
A
A
T
G
A
G
C
C
T
A
T
T
C
T
T
C
A
A
T
A
C
C
A
12300
C
A
A
G
C
C
A
C
C
A
A
A
A
C
A
T
A
C
A
C
A
A
G
A
T
G
A
A
A
G
A
G
A
T
A
C
C
T
G
C
C
A
A
T
T
C
A
A
T
T
12350 |
var(12324):[G:0.32]
C
T
T
A
A
T
T
T
A
A
A
A
C
C
T
T
C
T
G
A
A
A
A
A
G
T
A
A
T
G
T
T
C
A
G
G
T
A
C
A
G
A
T
G
G
T
T
T
C
A
12400
C
T
G
G
T
A
G
A
A
T
T
T
T
A
C
C
A
A
A
C
A
T
T
T
C
A
A
A
A
A
G
A
A
C
A
C
C
A
A
T
T
C
T
A
T
A
C
A
A
C
12450
T
C
T
T
C
C
A
G
A
A
C
A
T
A
G
A
A
G
A
G
G
G
A
A
C
A
C
T
T
C
T
T
A
G
T
T
T
G
T
C
T
T
A
G
G
C
C
A
G
C
12500
A
T
T
A
C
C
C
T
G
A
T
G
T
C
A
A
A
A
C
C
A
G
A
C
A
A
A
T
A
C
T
G
A
A
A
A
C
A
A
A
A
A
C
C
A
C
C
C
T
A
12550
C
G
T
A
A
C
A
A
T
A
T
C
T
C
T
C
A
T
G
A
A
T
C
T
A
G
A
C
A
T
A
A
A
A
A
T
C
C
T
C
A
A
C
A
A
A
A
T
A
T
12600
T
A
G
C
A
A
A
C
G
G
T
G
C
A
G
C
A
A
T
A
T
A
T
T
T
T
T
A
A
A
A
G
A
G
T
A
A
T
A
A
T
A
C
A
C
C
A
T
G
A
12650
C
C
A
A
G
T
G
A
G
T
T
T
T
T
C
T
G
G
G
G
C
A
C
A
C
A
T
G
A
C
T
G
G
C
T
C
A
A
T
A
T
T
T
A
A
A
A
A
T
A
12700
A
T
T
A
T
G
T
A
A
T
C
C
A
C
C
A
T
A
T
A
A
A
C
A
A
A
A
G
A
G
A
A
C
A
T
C
C
A
C
A
T
A
A
T
C
A
T
G
T
C
12750
A
A
T
T
G
A
T
G
C
A
A
C
A
A
A
C
A
A
A
T
C
T
G
G
C
A
A
A
A
T
T
T
A
A
C
A
T
C
C
A
T
T
T
A
T
G
A
T
T
T
12800
T
A
T
A
A
A
A
A
A
C
C
T
A
T
C
A
G
C
A
G
A
A
T
A
T
G
A
A
T
A
G
G
A
G
G
G
A
A
T
T
T
T
A
T
G
A
A
C
A
T
12850
A
A
T
A
A
A
G
T
T
C
A
T
C
T
A
C
A
A
A
G
A
G
T
C
T
A
C
A
G
T
T
G
A
T
A
T
T
A
T
A
C
T
T
A
A
A
G
G
T
G
12900 |
NOT SCANNED
A
A
A
A
C
T
G
A
A
G
G
T
T
T
T
C
T
C
C
C
T
G
A
G
A
C
T
G
G
A
A
C
A
A
C
A
C
A
A
G
A
A
T
G
T
C
C
A
T
T
12950
C
C
C
A
A
C
A
C
T
C
C
T
A
A
T
T
C
A
A
C
A
T
T
A
T
A
C
T
G
G
A
A
G
T
C
C
T
A
G
C
T
C
T
A
A
G
G
A
A
G
13000
G
C
C
T
T
C
A
G
T
A
A
G
T
C
A
A
G
A
A
A
A
A
G
A
A
A
T
A
A
A
G
T
T
A
T
C
A
C
T
A
T
T
T
G
A
A
G
A
T
G
13050
A
C
A
T
G
A
T
C
A
T
G
C
A
T
A
T
A
G
A
A
A
A
T
C
C
T
A
A
A
G
A
A
T
G
T
G
A
A
G
G
G
G
A
A
A
A
A
A
G
C
13100
T
T
G
T
T
T
T
A
G
T
C
C
C
T
T
C
T
C
A
C
G
C
T
G
C
T
G
T
G
A
A
G
A
A
C
T
A
C
C
C
G
A
G
A
C
T
G
G
G
T
13150 |
REPEAT
A
A
T
T
T
A
T
A
A
A
G
G
A
A
A
A
A
A
G
G
T
T
T
A
A
T
T
G
A
C
T
C
A
G
T
T
C
T
A
C
A
T
G
T
C
T
A
A
G
G
13200
A
G
A
C
C
T
C
A
G
T
A
A
A
C
T
T
A
C
A
A
T
C
A
T
G
G
C
A
G
A
A
A
A
G
G
A
A
G
C
A
A
A
C
G
T
G
C
T
C
T
13250
T
C
T
T
C
A
C
A
T
G
G
C
T
G
T
A
G
G
A
G
G
G
A
G
A
A
G
A
A
T
G
A
G
A
G
C
C
G
A
G
C
A
A
A
A
G
G
G
G
A
13300
A
T
C
C
T
C
T
T
A
A
A
A
A
A
A
A
T
C
A
G
A
T
C
T
C
A
T
G
A
G
A
A
C
A
T
A
C
T
C
C
C
A
C
G
A
G
A
A
C
A
13350
G
C
A
T
G
G
A
G
G
A
A
C
C
A
C
C
C
T
C
A
C
G
A
T
T
C
A
G
T
T
A
C
C
T
C
C
C
A
C
T
T
G
G
T
C
C
C
T
C
T
13400
C
A
C
T
A
C
A
C
A
T
G
G
G
G
A
T
T
A
T
G
G
G
A
A
C
T
A
C
A
A
T
T
C
A
A
G
A
T
G
A
G
A
T
T
T
G
G
G
T
G
13450
G
G
G
A
C
A
A
A
G
C
C
A
A
A
C
C
A
T
A
T
C
A
A
T
G
C
T
C
C
T
A
A
A
A
T
T
T
G
C
A
A
A
T
G
A
G
T
G
T
A
13500 |
var(13457):[G:0.29]
|
REPEAT
A
C
A
A
G
G
T
C
A
C
A
G
A
A
T
A
C
A
A
G
G
T
C
A
G
C
A
C
A
T
G
T
G
T
T
A
A
T
C
A
C
A
T
T
T
T
T
A
T
G
13550
T
A
A
T
A
G
C
A
A
T
G
C
A
C
A
G
T
T
A
T
T
T
G
T
A
A
G
C
C
A
A
A
A
A
T
T
T
T
T
A
A
A
T
G
C
C
A
T
T
T
13600
A
C
A
A
T
T
G
C
T
T
C
A
A
A
G
A
A
A
A
T
T
A
T
A
T
A
C
T
T
A
T
A
T
G
T
A
A
A
G
C
T
A
A
T
A
A
A
A
C
A
13650
T
A
T
A
C
A
G
G
A
T
C
T
T
T
A
T
C
C
C
A
A
A
A
T
C
T
A
C
A
A
A
A
T
T
C
C
A
A
T
G
A
A
A
G
T
A
T
T
T
A
13700
A
A
C
A
G
A
C
C
T
A
A
A
T
A
A
A
T
A
G
A
G
A
C
A
C
A
T
A
C
A
G
T
G
T
T
C
A
T
G
G
A
T
T
G
A
A
A
G
A
C
13750 |
var(13732):[C:0.03]
T
C
A
A
C
A
T
A
T
T
A
A
G
A
T
A
T
C
A
A
T
TTTC
G
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
13800 |
REPEAT
|
var(13785):[T:0.10]
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
A
C
C
G
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
A
A
G
G
T
C
G
G
G
13850
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
13900
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
T
G
T
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
13950
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
A
A
G
G
T
T
G
C
14000
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
A
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
C
G
A
A
14050 |
var(14036):[C:0.01]
A
C
T
C
T
G
T
C
T
C
C
A
A
A
A
A
A
A
A
A
A
A
A
A
C
A
A
A
A
G
A
A
A
A
G
A
A
A
G
A
A
T
T
G
T
C
T
T
T
T
14100 |
REPEAT
T
C
A
A
C
A
A
A
T
T
A
T
A
T
T
A
G
T
C
T
C
A
G
T
C
T
G
T
T
T
G
T
G
C
T
T
C
T
A
T
A
A
C
A
A
A
A
T
A
G
14150 |
REPEAT
A
T
C
A
G
A
C
T
G
G
G
T
A
A
A
T
T
A
T
A
A
A
C
A
G
A
A
T
A
A
G
G
T
T
A
T
T
G
C
T
C
A
C
A
G
T
T
A
T
G
14200
G
A
G
G
C
T
G
G
G
A
A
G
T
C
C
T
C
C
A
A
G
A
T
C
A
A
G
A
A
A
C
C
A
G
C
A
G
A
T
A
T
G
G
G
G
C
C
T
G
A
14250
T
G
A
G
G
G
C
C
T
G
G
T
C
T
C
T
G
C
T
T
C
C
A
A
G
A
C
G
G
T
G
C
C
T
C
A
T
G
G
C
T
G
T
A
T
C
C
T
C
A
14300
C
C
T
G
A
C
A
G
A
A
G
G
C
A
G
A
A
G
C
A
C
A
G
A
A
G
G
G
A
C
A
A
A
C
A
C
T
G
T
G
T
G
A
A
G
C
C
T
C
T
14350
T
T
T
A
T
A
A
G
G
A
C
A
T
T
A
A
T
C
C
T
A
T
T
C
A
C
A
A
G
G
G
C
A
G
A
G
C
C
T
T
C
A
T
G
G
C
C
T
A
A
14400
T
C
A
C
C
T
C
C
T
A
A
A
G
A
T
C
T
C
A
C
C
C
T
T
A
A
T
A
C
T
A
T
T
A
C
A
T
T
G
T
C
G
A
T
T
A
A
A
T
T
14450
T
T
A
A
C
A
T
A
T
G
T
A
T
G
G
G
G
G
G
C
A
T
G
T
T
G
A
G
A
C
C
A
T
A
G
C
A
G
T
G
T
T
G
G
A
A
C
A
A
T
14500 |
REPEAT
T
A
T
A
T
A
T
T
T
A
T
A
T
G
C
A
A
A
A
A
A
A
T
G
A
A
C
C
T
G
A
C
C
T
A
A
A
C
T
T
C
A
C
A
A
T
T
A
T
A
14550
C
A
A
A
A
A
T
T
A
A
C
A
C
A
A
T
A
T
A
G
A
T
A
A
T
A
G
A
T
C
C
A
A
A
C
A
T
A
A
A
A
T
A
C
A
A
A
A
C
T
14600
A
T
A
A
A
A
C
T
T
T
T
A
G
G
A
G
A
A
A
A
T
A
C
A
A
C
A
A
A
A
T
T
T
A
T
G
A
C
A
T
G
G
A
G
C
T
A
G
G
C
14650
A
A
A
A
A
T
T
C
T
T
A
G
A
C
A
T
T
G
A
C
A
C
C
A
A
A
A
G
A
A
T
G
A
T
T
A
A
T
A
A
A
A
G
A
A
A
A
A
A
G
14700
T
C
A
T
A
A
A
T
T
G
G
A
C
T
T
T
A
T
C
A
A
A
A
T
T
A
A
A
A
C
C
T
T
T
T
G
C
A
C
T
T
C
A
G
A
A
A
T
A
A
14750
A
C
A
C
T
G
T
T
A
A
G
A
G
G
A
T
G
A
A
A
A
C
A
C
A
A
G
C
T
A
C
A
A
A
C
T
A
A
G
A
G
A
A
A
A
T
A
T
T
T
14800 |
var(14772):[T:0.49]
G
C
A
A
A
T
C
A
C
A
T
A
T
C
C
A
A
C
A
A
A
G
G
A
A
T
C
A
T
A
T
T
C
G
G
A
A
T
A
T
A
T
A
A
A
G
A
A
A
T
14850
C
T
T
A
A
C
A
G
A
T
C
A
G
A
A
G
A
A
G
A
A
A
A
T
A
A
A
C
A
C
C
C
A
G
T
T
A
A
A
C
A
A
A
A
G
A
C
C
T
T
14900 |
var(14881):[T:0.27]
A
A
C
A
G
C
C
A
A
C
T
C
G
C
C
A
A
A
G
A
G
G
A
T
A
T
A
T
G
G
A
T
A
G
A
A
A
A
T
A
A
A
C
A
T
G
T
G
A
G
14950
A
A
G
A
T
A
C
T
C
A
A
C
A
T
T
A
T
T
A
G
C
T
C
T
T
A
C
A
G
A
A
A
T
G
C
A
G
A
T
A
A
A
A
A
C
C
A
C
A
A
15000
T
A
A
G
A
A
C
G
A
C
T
A
T
A
T
A
C
T
C
A
T
A
G
A
G
T
A
A
A
A
A
A
C
A
C
T
G
A
C
A
C
A
G
A
A
C
A
G
C
G
15050
C
T
G
G
T
T
A
A
G
A
C
A
C
G
G
A
G
A
A
A
G
C
A
G
A
A
C
T
T
T
G
A
T
A
C
A
C
T
G
C
T
C
G
T
G
G
G
A
A
T
15100
G
C
A
A
A
A
T
G
G
C
A
C
G
G
C
C
A
C
T
T
T
G
A
A
A
A
G
G
A
A
T
T
T
G
A
C
A
G
T
T
T
C
T
T
A
T
A
A
A
G
15150 |
var(15123):[:0.01]
T
T
A
T
A
T
A
A
G
G
T
T
A
C
C
A
C
A
G
G
A
C
T
C
G
G
C
A
A
T
C
C
C
A
T
T
T
C
T
G
G
G
C
A
T
T
T
A
C
C
15200
C
T
A
G
A
G
A
A
A
T
G
A
A
A
A
C
T
T
A
T
T
T
C
C
A
C
A
T
A
A
A
A
T
C
C
T
G
T
A
C
A
T
A
A
A
T
G
T
C
T
15250
A
T
A
G
C
A
A
C
T
C
T
A
G
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
T
T
T
T
T
A
T
T
T
T
T
T
G
A
G
A
C
A
15300 |
REPEAT
|
NOT SCANNED
G
A
G
T
C
T
T
C
C
C
G
T
T
G
C
C
C
A
G
G
C
T
G
G
G
G
T
G
C
A
A
T
G
G
C
A
C
A
A
T
C
T
C
G
G
C
T
C
A
C
15350
T
A
C
A
A
C
C
T
C
C
T
C
C
T
C
T
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
15400
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
T
G
C
C
A
C
C
A
T
G
G
C
A
G
G
C
T
A
A
T
T
C
T
T
G
T
A
C
15450
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
G
C
15500 |
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
C
G
G
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
15550
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
15600 |
NOT SCANNED
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
G
C
C
A
C
T
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
15650
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
T
T
T
T
A
G
C
T
G
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
15700
T
C
G
T
G
A
T
C
C
G
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
15750
G
C
C
A
C
C
G
C
G
C
C
C
G
G
C
C
A
A
T
T
C
T
T
G
T
A
C
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
15800 |
REPEAT
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
C
G
C
15850 |
var(15848):[T:0.01]
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
G
C
A
C
C
A
C
G
C
C
T
G
G
C
15900
C
A
G
C
A
A
C
T
C
T
A
T
T
C
T
T
A
A
T
T
G
C
C
A
A
A
A
G
C
T
G
G
A
A
G
T
A
A
G
A
T
A
A
A
T
G
T
C
T
T
15950 |
REPEAT
T
T
G
C
T
G
G
G
T
G
T
A
C
C
C
A
T
A
C
A
A
T
A
T
A
A
C
A
G
T
T
G
T
C
A
G
C
A
A
C
A
A
C
A
A
G
T
A
A
G
16000
A
A
A
G
T
A
T
T
G
A
T
A
C
A
A
C
T
T
G
C
A
T
G
A
A
T
T
T
C
A
A
A
G
G
C
T
T
T
G
T
A
T
T
G
A
A
T
G
A
A
16050 |
var(16047):[A:0.03]
A
A
G
C
T
A
G
T
T
T
C
A
C
A
A
G
G
T
C
C
T
A
T
A
A
T
A
A
A
C
A
C
T
T
T
C
A
T
T
T
A
C
A
T
G
A
C
A
T
G
16100
C
T
C
A
A
T
A
G
G
T
T
G
T
T
A
T
C
A
T
T
G
T
G
A
T
A
A
A
G
A
A
T
A
G
A
T
T
A
G
T
G
G
T
G
G
G
A
C
A
G
16150
G
G
T
T
T
G
C
C
A
A
G
G
G
T
T
G
G
C
A
G
G
T
G
G
G
G
G
A
G
A
T
G
G
C
A
T
G
G
G
G
T
A
T
T
T
G
G
G
G
G
16200
G
G
A
A
G
G
A
T
G
G
A
C
C
T
G
T
A
C
T
G
C
A
T
C
C
T
G
A
T
G
A
T
G
C
T
G
G
T
G
G
C
T
A
C
A
G
A
A
G
T
16250
C
T
C
T
C
C
A
T
G
T
G
T
T
G
A
A
A
T
T
C
A
T
A
G
A
A
G
T
G
T
A
C
A
C
C
A
A
A
A
C
A
T
T
G
G
T
T
T
T
G
16300
C
T
G
T
G
T
G
A
G
A
A
T
T
T
T
A
AAAG TAAAAAAGTA AGAAGATAG
T
G
T
A
T
T
T
G
C
T
T
16350 |
REPEAT
C
C
T
A
G
G
G
C
A
A
C
C
A
T
A
A
C
A
A
A
G
C
A
C
T
A
C
A
A
A
C
G
C
C
T
T
A
A
A
A
T
A
A
C
A
G
G
G
A
T
16400
T
T
A
T
T
G
T
C
G
C
A
G
C
T
T
T
G
G
A
G
A
C
A
A
G
T
C
T
G
A
A
A
T
T
A
G
G
G
T
G
T
C
A
G
C
A
G
T
G
T
16450
T
G
G
T
T
C
C
T
T
C
T
G
G
A
G
G
C
T
C
T
G
G
G
A
G
A
G
T
C
T
C
T
G
T
C
C
C
A
G
G
C
T
C
T
C
T
G
C
T
C
16500
G
C
T
T
C
C
A
G
G
A
G
C
A
C
C
C
G
G
C
A
A
T
C
A
T
G
G
G
C
A
T
C
C
T
T
G
G
G
C
T
G
C
G
G
A
C
G
C
G
T
16550
C
G
C
T
C
C
T
G
T
C
T
C
T
G
C
T
T
T
C
A
T
C
T
T
C
G
C
A
T
G
G
C
C
T
T
C
T
C
T
C
T
C
T
G
T
G
C
C
T
C
16600
T
G
T
G
T
G
A
C
T
T
T
T
T
C
T
G
T
C
T
C
T
T
A
T
A
A
G
G
A
C
T
T
T
C
T
C
C
T
T
T
A
T
T
T
A
G
G
G
C
C
16650
C
A
C
A
C
T
G
A
C
C
C
A
G
C
A
T
G
A
T
C
T
C
A
T
C
T
A
C
A
G
C
C
T
T
G
G
C
T
T
A
G
T
T
A
A
C
A
T
C
T
16700 |
var(16673):[T:0.49]
G
C
A
A
A
G
A
C
C
C
G
A
T
T
T
C
C
A
A
T
T
A
A
G
G
T
T
C
T
A
T
T
C
T
G
A
G
G
C
T
G
C
A
G
G
T
G
G
A
C
16750 |
var(16711):[A:0.01]
C
T
G
A
A
T
T
A
G
C
A
G
G
G
A
G
G
G
C
A
C
T
A
T
T
C
A
A
C
C
AACTGTAGAG AGTTAAAAAA
16800
CAATAAGCCT GTGGACATTT TTTAGCGTAA TCTAGGCTCT TGATGACCTG
16850
TTTTAAACTA ATCAGCAATG AATATTTTTC AGCTAACGTA AT
G
ACTATTG
16900 |
var(16893):[C:0.36]
ACAAGCACGT GACCCTTGTC TGAATGTTAA CTCAGGCATA GCAACTAAAA
16950
ACCATCCATT GACCAGCTC
G
GGAGTAGCAA ACAGAGCAAG CCATTCTTGG
17000 |
var(16970):[A:0.02]
TGCAACCTGT TTCTAGGTAA TTAACTTGAA AATATTTTCA ATATTCAACA
17050
AAGATGGTTC ATTTAAGATG ACTGAAGCCA CATCTTCACA GATGCAGAAG
17100
ATCTGAATAG CTTTCCTCTT TAGATTGAAT AGTTCTAGAA CAATTCATTC
17150
CTAAAAGTGA CTTCCATTGG GGAAAATATC CTATTCAGCT TGAGTCACTT
17200
AATTATGGTT GTTATTGGTA TAAAATGTCT CTGTTTTCCC TAATATATTT
17250
TTAAAT
C
TCT TTTTTCCTTT TAG
A
A
T
G
A
A
T
T
C
T
G
G
A
A
T
A
A
A
T
A
C
A
A
A
G
GT
17300 |
var(17257):[T:0.29]
| Exon 3
N E F W N K Y K 85
CAGTATTTTT TCTGTTTTAA CCTTCAGTGA GAGGGGTTCA TCAGGATATT
17350
TGAATTTTGA AAATAGTTCC TGAATTTCCT TTCTGCTTTT GTTCT
A
ATTT
17400 |
var(17396):[C:0.35]
TACTCATTTA AGACTTTTTC CCTCAGGGTG TTTCCATAAT AGTTATTGTA
17450
AAAGAGTTTT TAGAGTAATT TTATACTAAT CCTAGTTTTG TTATTGAGTT
17500
AGAGATATAT ATTTAAATCA GTTCATTCTC ATTTGAGGAT ACCAAATTCC
17550
ATGATAACTT TTCTTAAATA AAAGTGTATT CGGTAAAAGC AAAAAACAGA
17600
GTCTGAAAGA TTAGATTCCC GACTAAGGTA ACCACCTTGA TTTAATGCTT
17650
AATAGCATCT GAAGTGGCCT CAGTCATGAC TACCTGGTAA CAGTATTCAC
17700
ATTTCTCAAA ATGACAACTG GGCCTATCTC TAAATGAGAT TGTGTAAATC
17750
CTCCAAGAAA TGGGAAGCCC CGTGTTAGTG TTTGCCTTCT CCTTTTGCCC
17800
CAGGATGATT TGGAAAGAGG AACCCTAACC TCCTCTCCCG TCAAGGCCCA
17850
GCCCAGAAAT GAGCATCAGG CTCTCACCTT TCCTCCATCC TTCCAGTTGG
17900
TCCCTGTGGT CACCTCTGAC TGTAAACACA CTGCAAAACA CCGGCAAAAA
17950
TCAAAAAGCT GGGCCGGTGA TCCACCTAGA TAAAGGCATC ACGTACACAT
18000
GGCCACAAAA GGGGGTGGAT CAAATAAAGT CCAAAGAGGG GGAGTTGTTT
18050
ACAGAGAAAC CGGAAGACTC TTCCAGTTAT CTGAA
C
GGCA GGGCCAAGGT
18100 |
var(18086):[T:0.01]
TAGCACAGCA AAACTGTTTC CATGATGCCG GA
A
ACAGCTT GCAGACTCCA
18150 |
var(18133):[G:0.01]
GTTTCGAAAT CCTCTCTTTG CAG
A
T
G
G
C
G
A
C
C
A
G
T
G
T
G
A
G
A
C
C
A
G
T
C
C
T
T
18200 | Exon 4
D G D Q C E T S P 94
G
C
C
A
G
A
A
C
C
A
G
G
G
C
A
A
A
T
G
T
A
A
A
G
A
C
G
G
C
C
T
C
G
G
G
G
A
A
T
A
C
A
C
C
T
G
C
A
C
C
18250
C Q N Q G K C K D G L G E Y T C T 111
T
G
T
T
T
A
G
A
A
G
G
A
T
T
C
G
A
A
G
G
C
A
A
A
A
A
C
T
G
T
G
A
A
T
T
A
T
GTA GGTTCCTCTG
18300
C L E G F E G K N C E L 123
CTTGGTATAC CTTCAGATCA GATGCCCCTG AAGAGTGGCA GGTGGGCGGG
18350
G
G
AAGAAGTG AAAACGCCTA ATGAAACAAT CTTAAGTCAT TTCTGATTTA
18400 |
var(18352):[A:0.10]
CAAAGTCTG
G
G
C
T
C
T
A
T
T
A
T
A
C
C
T
A
T
T
A
T
A
C
T
G
T
G
C
C
A
C
T
A
T
A
G
C
A
A
T
A
G
18450 |
NOT SCANNED
A
A
A
A
A
A
A
A
G
C
C
C
C
A
A
T
A
T
G
T
C
C
C
C
C
A
A
A
C
G
A
T
T
C
G
G
T
T
T
G
G
G
G
G
C
A
T
G
A
T
18500
G
A
G
A
G
A
G
A
C
A
C
A
G
T
C
A
C
T
T
C
T
C
T
G
C
T
C
C
T
C
C
G
A
G
A
G
A
G
A
C
T
G
T
A
G
A
A
C
A
T
18550
T
G
A
T
G
A
A
G
C
G
T
G
T
G
A
T
C
C
A
T
T
C
A
T
G
T
G
T
A
A
A
C
A
G
G
A
G
T
G
G
A
C
T
C
T
C
T
G
T
T
18600
T
T
C
C
T
T
G
G
G
G
C
C
A
A
G
T
G
C
A
T
T
G
C
C
C
T
G
T
T
A
T
T
C
C
T
G
C
T
C
C
T
T
G
T
G
A
C
C
C
T
18650
G
T
G
C
A
G
T
G
A
T
T
C
T
A
A
A
T
C
A
C
C
T
C
T
T
A
T
T
T
A
T
G
T
G
T
A
T
G
G
A
T
G
C
A
G
G
T
G
T
C
18700
A
A
T
A
T
T
T
G
T
G
A
A
T
A
T
T
T
G
T
G
A
T
T
G
G
C
C
A
A
T
T
A
T
A
A
A
A
A
T
T
T
G
A
T
A
C
A
T
T
T
18750
A
A
T
T
A
G
T
T
C
T
A
C
G
T
G
G
A
A
A
A
A
T
C
A
C
T
A
A
G
T
G
C
T
T
T
C
T
C
T
A
A
T
G
T
G
G
T
G
A
T
18800
T
A
A
G
T
T
T
T
A
A
A
T
A
A
A
A
A
G
T
T
A
G
G
C
T
A
C
T
G
T
T
A
G
A
T
C
A
A
T
T
T
C
C
C
T
A
A
G
G
A
18850
A
A
A
A
G
A
T
T
T
G
C
A
T
T
T
C
T
T
T
T
A
A
A
G
T
A
C
T
T
A
A
T
T
G
A
T
C
A
T
C
T
T
T
T
T
T
T
T
T
T
18900 |
REPEAT
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
G
G
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
18950
C
A
C
G
A
T
C
T
C
A
G
C
T
C
A
C
C
G
C
A
A
G
T
C
C
G
C
C
T
G
C
C
A
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
C
C
19000
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
T
A
G
G
C
C
C
C
G
G
C
C
A
C
C
A
G
T
C
C
C
19050
G
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
A
T
T
T
T
T
T
A
G
T
G
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
19100 |
var(19072):[:0.99]
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
G
G
T
G
A
T
C
C
G
C
C
C
G
C
T
T
C
G
19150
A
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
G
C
A
C
A
G
C
G
C
C
G
G
C
C
TAAT
19200
TGATCATCTT TAGACTGTGT TCTTAGATTG GATTACTTTT GAGTTTTCCC
19250
TGATGAGAAT ATCAATTACG CATCATTCCA TTCCAAGTCC GCAGTCGCCT
19300
CCCTGGAACA CCATTTGGTA ACTTATGAGG CATAACCCTG TTCAGGCTCC
19350
CAGGGCTATT ATGCACATTT TCTAAAATTT CAGGCATGTT GATCTTTGCA
19400
CTGTGATTAC TTTTTCATCA AAAGCCACAC AGAGGGATGT GGAGTGACC
G
19450 |
NOT SCANNED
T
A
A
T
G
T
G
A
G
T
G
C
T
G
C
T
G
G
G
G
C
A
G
G
G
G
G
T
A
C
C
G
G
C
C
A
T
C
C
C
G
G
A
G
G
T
G
T
G
A
19500
G
G
G
G
C
A
G
G
T
A
C
C
T
G
G
A
G
C
C
T
G
G
C
T
T
C
T
G
G
C
T
A
C
A
C
C
G
G
G
C
A
C
T
G
C
A
C
C
A
T
19550
G
A
G
C
T
C
C
C
C
G
T
G
A
C
C
C
G
T
G
A
G
G
T
T
G
C
C
C
T
T
C
A
A
G
G
C
A
A
G
T
G
T
A
C
C
T
G
T
C
G
19600
C
C
T
G
G
C
T
C
T
G
G
C
C
C
T
T
T
G
C
T
C
A
A
C
C
C
A
A
T
G
G
C
C
G
C
T
T
T
G
T
G
G
C
T
G
A
C
A
G
G
19650
C
A
A
G
T
G
G
A
T
G
T
A
G
C
T
G
G
C
A
C
C
C
T
T
G
G
G
C
C
A
G
C
C
C
A
G
C
C
T
C
C
A
T
T
T
C
T
C
C
A
19700
G
C
T
G
T
C
C
C
C
A
G
A
G
C
C
A
A
C
G
T
G
C
C
T
C
T
C
C
T
T
T
G
C
A
G
T
C
A
C
A
C
G
G
A
A
G
C
T
C
T
19750 | Exon 5
F T R K L 128
G
C
A
G
C
C
T
G
G
A
C
A
A
C
G
G
G
G
A
C
T
G
T
G
A
C
C
A
G
T
T
C
T
G
C
C
A
C
G
A
G
G
A
A
C
A
G
A
A
C
19800
C S L D N G D C D Q F C H E E Q N 145
T
C
T
G
T
G
G
T
G
T
G
C
T
C
C
T
G
C
G
C
C
C
G
C
G
G
G
T
A
C
A
C
C
C
T
G
G
C
T
G
A
C
A
A
C
G
G
C
A
A
19850 |
var(19819):[A:0.03]
S V V C S C A R G Y T L A D N G K 162
G
G
C
C
T
G
C
A
T
T
C
C
C
A
C
A
G
GTA GGAGGCACGT TGGGCCACAG CCACCCGCTG
19900
A C I P T 167
CCGCTGGGCC GGGCCAGGGA GGACAAGCCC GTGCCAGGGG GTGGGGACAC
19950
AGGCATGTTC TGGGCGGGCC TGGCAGGTAA CAGTGACACC AAGAGGACAG
20000
GACTGAGCCC TGGGCTCCGG GCCCAGGTGG TTCAAACATG AAGACCATGA
20050
GGTTTGGAAA CAGACCCATT ATTTCTGTAA GCCAGATCTG CTGTTTAA
C
C
20100 |
REPEAT
T
C
A
G
C
T
T
C
C
C
C
A
T
C
T
G
A
C
A
A
A
T
G
G
G
A
C
C
A
A
C
A
C
T
A
T
T
G
C
C
T
G
A
C
T
G
C
T
T
G
20150
G
G
T
G
A
TCCCT GGAGCACTTT GCA
C
GATGCC TGGCCCACCG CAGGCCCTCA
20200 |
var(20155):[G:0.03]
|
var(20174):[T:0.28]
GTCTGCATTG GGACTGTGGG GGGATCCAGT GCAAGGGCTC AAAGCACCAG
20250
GGCAGGCAAA GGGCAGAGCT GGCCCGAGGA ACTGGAGCTA AGGTGCGGGG
20300
CTGGGATAGG AGTCAGGGGA CGCTCAGGCT CTGAGCTCCT TTTACCAGGA
20350
CCAGTGTTCA TTGAACGTAG TTTTTCTTTT CCTTGATGAA TGTGGACAAC
20400
AGGCGGCCAG AGGGCAGTGA GCACAGGACA GGCAGGGGAC TGGGCAGGGT
20450
GGGGACGAGC CTCCCTGTCC TGACCC
C
GTG GGCATTGCCT ACGCTGGGCT
20500 |
var(20477):[T:0.01]
TGCCTGGCTG CCGGCACTTC CACACGGCCA GCACACATGA GGCCCTCGAA
20550
GGCGGGGCCT AGGCGTCACA GCTGCACCTT GCACAGCAAC CCCACTCCCA
20600
CTCATAGCTG GCCCGACCCG CAGCGTTGGC CTCACCCGGG
G
GCATATTCG
20650 |
var(20641):[A:0.03]
AAGGGCAGAG TTCCAGGCCC GCCTTTTCAA GAGCCTGGTG ACCCAGCTCA
20700
CCTTCCGGCT TCAGGTGCGG CTCAGCCCCC AGACCGTGTT CTGCCCCCGG
20750
CTACCATGAC TGTCCCCTCC AGACACAGGT TACTCCCGAG TGTTCTGTCA
20800
CTCTTCCTTT CATATCCTTC TTACCGAAAA CAATTTACTT CCAAAGATGA
20850
GTGATCACGA AAAGACCGGG TTCCATATGC ATCCTTCAAG CGCTGCTTCA
20900
ATTATGTGCC TGAAACATCT CAGCAAGTGA AAGACACTGT GGCTGACCTT
20950
GCTACTGGCA ATGACATTCA AGCTTAAGCT GGTTAAAAAA TATTTTAACT
21000
GAAGTCATTT CTTGACATAC ACACGAATAT TTTTTAATTC TAGAAACAAT
21050
CACAAATCCA TTTAAAACCA AGTGTG
G
G
C
C
G
G
G
T
G
C
A
G
T
A
G
C
T
C
A
T
G
C
C
T
21100 |
REPEAT
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
C
G
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
21150 |
NOT SCANNED
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
C
A
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
G
T
A
A
A
A
A
T
21200
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
C
G
C
C
T
G
T
A
G
T
C
C
21250
C
A
G
C
T
G
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
A
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
T
G
G
A
A
G
G
C
G
G
21300
A
G
C
T
T
G
C
A
C
T
G
A
G
C
A
C
T
G
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
G
C
T
C
C
A
G
C
C
T
G
G
21350
G
C
A
A
C
A
G
A
A
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
C
A
A
A
21400
A
GGCAAATGT GATGTGTGAA AATAAAATTA CATAATCTAC TTTGTAGTGC
21450
AAAAAGTTCA
G
G
C
T
G
G
G
C
A
A
G
G
T
G
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
21500 |
REPEAT
G
G
G
A
A
G
C
C
A
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
C
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
21550
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
T
A
A
A
A
A
A
A
A
A
A
A
T
A
C
A
A
A
A
A
C
T
21600
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
G
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
21650
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
C
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
C
A
A
G
21700
A
T
C
A
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
A
G
A
C
A
A
G
A
G
A
G
A
A
A
C
T
C
C
A
T
C
T
C
A
21750
A
A
A
A
A
A
A
A
A
A
A
A
A
GTTCAGT TCCAAATAAT GGATGAACTC AGAACTTGGA
21800
AGGGTGGTGA CTGCACACAT GGACAGAGCT GAGGCACGGC GGGGTGGA
G
G
21850 |
var(21849):[A:0.14]
CCCCTGCGGC TGGCAGATTC ACCGGAGCCT CCTCAGACTG CGCAGGAGCA
21900
CAGCAAGTAA ACAGCTAAGC TGTGCCCATC TGACCCCAGA CACGTGTGGC
21950
CACAGAGAAG CCCCTTGCCA TCCATTCCCC CCTCCTCTCC TCTCCTGCTC
22000
CCCCACACCC CTGCCTTCCT CCAACATGTT TCAGCCATTC TCTTGGCCTT
22050
GGTGCCCTAA TTGGCC
G
TTA TACAAAAGGA AGCTTCCTAA CATCTCGGCG
22100 |
var(22067):[A:0.01]
TGGCCTCTCT GGGAGCTGTG CTATTCCAGA CGCTCTCCTG TGCCTCCAGT
22150
TGTTTGC
G
TG CGCCATTCCT TCTGCCTGAA AACTTTTTTT T
C
TTCAATGT
22200 |
var(22158):[A:0.01]
|
var(22192):[A:0.01]
TTCATTAGGA AAAGTTTTCC AACACACAGC ACACTGGAAA GAATTTTGCA
22250
GGGAGTCGCA CACGCCCAGC ACTTGGGTTC TCCTGTTGGC ATCCTCCGGC
22300
CAGATGCATT CATCCCATTT CGCCCGGCC
C
G
T
T
T
G
T
C
T
C
T
G
T
C
C
A
T
C
C
G
T
22350 |
NOT SCANNED
C
A
A
G
C
T
T
T
C
T
T
G
A
C
T
T
C
T
T
G
G
T
G
C
A
T
T
T
T
C
A
G
G
C
A
A
A
C
C
G
C
A
G
A
C
G
C
C
A
A
22400
C
A
C
T
C
C
C
C
T
C
G
C
T
G
C
C
T
G
G
G
TTGCTGCCTG GCGTCCATTG TTCACAGGCG
22450
GTCACCTGAG GGGAGGCCAA CGCTC
G
GACA GCTGCGCTCA CCTGCAGATC
22500 |
var(22476):[A:0.03]
C
GACCCCTGC CGACGACGTG GGGCCTCGCC CTGCAAGCCC GCTGCCCCTC
22550 |
var(22501):[T:0.01]
CGGGTGCCCC TGCGCTCTGC CTCCCGGCTC TCTGACTCTT CTCCCTCAGG
22600
GTGAGC
T
GTG CAGGCTATGG GGAGCCTCTC TCTGTGCTGA AGGCCCCGGC
22650 |
var(22607):[A:0.07]
CGTCCTCTTT CTTTCAG
G
G
C
C
C
T
A
C
C
C
C
T
G
T
G
G
G
A
A
A
C
A
G
A
C
C
C
T
G
G
A
A
C
22700 | Exon 6
G P Y P C G K Q T L E 178
G
C
A
G
G
A
A
G
A
G
G
T
C
A
G
T
G
G
C
C
C
A
G
G
C
C
A
C
C
A
G
C
A
G
C
A
G
C
G
G
G
G
A
G
G
C
C
C
C
T
22750 |
var(22739):[A:0.02]
R R K R S V A Q A T S S S G E A P 195
G
A
C
A
G
C
A
T
C
A
C
A
T
G
G
A
A
G
C
C
A
T
A
T
G
A
T
G
C
A
G
C
C
G
A
C
C
T
G
G
A
C
C
C
C
A
C
C
G
A
22800
D S I T W K P Y D A A D L D P T E 212
G
A
A
C
C
C
C
T
T
C
G
A
C
C
T
G
C
T
T
G
A
C
T
T
C
A
A
C
C
A
G
A
C
G
C
A
G
C
C
T
G
A
G
A
G
G
G
G
C
G
22850
N P F D L L D F N Q T Q P E R G 228
A
C
A
A
C
A
A
C
C
T
C
A
C
C
A
G
G
A
T
C
G
T
G
G
G
A
G
G
C
C
A
G
G
A
A
T
G
C
A
A
G
G
A
C
G
G
G
G
A
G
22900
D N N L T R I V G G Q E C K D G E 245
T
G
T
C
C
C
T
G
G
C
A
G
GTAACAGT AGGATGTCCC CTCGGGCCTG CTGGAGAGAC
22950
C P W Q 249
CACCTGTCCC GCTGTGCACC TCGGGGAGGC CAGCCTGACA CTTGGAATAG
23000
CAATCCGGGA AGGAACTGTT CCGAACTAGG ACAGAGGGGC TCCGCCACCC
23050
AAGCCTGCCT GCCTGTCCCC TCCCTCCGGG CAGCCAAGGA GGCTGTGAGC
23100
TCC
A
CAGGGA AGTGGCCGGG GCTGAGGGAG AGGCTGGGCC CAGGCAACGC
23150 |
var(23104):[C:0.02]
CCCCCTCAGC CCCTTCCCAC TGGGCATTTC CATGGCTGCC CGTGGCATGC
23200
CCAGGACGAT GCTGTCCTGT GAAACAGAAG AGAGGGAGAA GGCGCAGCCA
23250
CACGCTCAAG TGTCCTCAAA CCTCCCCTAC ACCAGGAGAC AAGGCTAAAG
23300
CCAG
G
GAGCC ACCCACACTG CAGGGGCATC AGCGGGCAGG AGGA
C
GGTGC
23350 |
var(23305):[A:0.05]
|
var(23345):[T:0.01]
CGGGTGGGCA AGGCCTCCAT CTGCTCTTCT GTTTGACGGG AGGCAGAAAG
23400
AGTTGGTGTC CTCGCTTCAT TTCTAATTTT GGAATTTTTT TACCCAAACA
23450
CCTAAATCCT ATGGAGGTAG ATAGTACCTT AGAGAAAAAC ACATCTACTT
23500
ATTTTCAAAG GTAAAAAAGA AAATCACTCT TTGAGGC
T
T
T
T
T
T
G
T
T
A
A
G
A
23550 |
REPEAT
G
A
C
A
G
T
A
C
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
T
C
G
C
G
A
T
C
T
C
G
23600
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
T
C
A
A
G
C
G
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
A
23650
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
A
A
T
T
A
C
G
G
G
C
G
C
C
C
G
C
T
A
C
T
T
A
C
G
C
C
T
G
G
C
T
A
A
T
T
23700 |
var(23665):[A:0.01]
|
var(23676):[A:0.01]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
23750
A
G
T
G
G
C
G
C
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
C
A
G
G
T
T
C
A
T
G
T
C
A
23800 |
var(23781):[T:0.01]
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
C
T
A
C
A
G
G
C
G
C
C
T
G
C
C
A
C
C
23850 |
var(23841):[A:0.01]
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
A
G
G
G
T
T
T
C
A
C
C
G
23900 |
var(23890):[A:0.17]
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
C
A
T
C
T
C
C
T
G
A
C
C
T
G
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
A
23950
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
A
C
A
A
T
G
T
G
C
C
C
G
G
C
C
A
T
G
24000 |
REPEAT
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
A
T
T
T
T
T
A
A
T
A
G
A
G
A
C
A
G
G
A
A
T
T
T
C
A
C
C
A
T
G
T
T
G
G
24050
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
A
G
G
C
C
T
C
A
T
G
T
G
A
T
C
C
A
C
C
C
T
C
C
T
C
A
G
C
C
A
24100
C
C
C
A
A
A
G
T
G
C
T
G
G
A
G
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
T
A
T
A
C
C
A
G
G
T
C
CTAATCT
24150
TTGATTGTTG ATTTGGAC
T
A
A
T
G
C
T
G
C
C
A
G
A
T
T
A
A
A
C
A
A
A
T
A
A
A
A
G
C
A
C
A
24200 |
REPEAT
A
T
A
C
T
T
T
C
A
A
T
T
A
A
A
T
T
T
C
A
A
T
T
T
C
A
C
A
T
A
A
A
C
T
A
G
A
A
A
T
A
CATT
A
A
A
C
A
24250 |
REPEAT
A
A
A
G
C
A
C
A
A
T
A
C
T
T
T
C
A
A
T
T
A
A
A
T
T
T
C
A
A
T
T
T
C
A
C
A
T
A
A
A
C
T
A
G
A
A
A
T
A
C
24300
T
T
T
C
A
G
T
G
T
A
A
G
T
A
T
G
T
T
C
C
A
A
G
T
A
T
C
G
C
A
T
G
A
A
G
C
A
T
A
C
A
T
A
T
G
C
G
A
A
A
24350 |
var(24331):[C:0.01]
A
A
T
T
A
T
T
T
G
C
T
G
T
T
T
A
T
C
T
G
A
T
T
C
A
A
G
T
C
A
A
A
C
T
A
G
G
T
G
T
A
T
T
A
G
T
C
A
G
T
24400 |
REPEAT
T
T
T
C
A
C
A
C
T
G
C
T
G
A
C
A
C
A
T
A
C
A
T
A
C
C
C
G
A
G
A
C
T
G
G
G
T
A
A
T
T
T
A
T
A
A
A
G
A
A
24450
A
A
A
G
A
G
G
T
T
G
A
A
T
G
G
A
C
T
C
A
C
A
G
T
T
C
C
A
C
G
T
G
G
C
T
G
G
G
G
A
G
G
C
C
T
C
A
C
C
G
24500 |
var(24465):[A:0.39]
T
C
A
C
G
G
T
G
G
A
A
G
G
C
G
C
A
A
G
G
C
A
C
G
T
C
T
T
A
C
A
T
G
G
C
G
G
C
A
G
C
A
A
G
A
C
A
G
A
G
24550 |
var(24504):[T:0.03]
|
var(24536):[A:0.11]
A
A
T
G
A
G
A
G
A
A
C
A
A
G
C
A
A
A
A
G
G
G
G
T
T
T
C
C
C
C
T
T
A
G
A
A
A
A
C
C
A
T
C
A
G
C
T
C
T
T
24600 |
NOT SCANNED
G
T
G
A
G
A
C
T
T
A
T
T
C
A
C
T
T
C
C
A
C
C
A
G
A
A
C
A
G
C
A
T
G
G
G
G
A
A
A
C
C
G
C
C
C
T
C
A
C
G
24650
A
T
T
C
A
G
T
T
A
C
C
T
C
C
C
A
C
C
A
G
G
T
C
C
C
T
C
C
C
A
C
A
A
C
A
C
A
C
G
G
G
A
A
A
T
A
T
G
G
G
24700
A
G
C
T
A
C
A
G
T
T
T
G
A
G
A
T
G
A
G
A
T
T
T
G
G
G
T
G
G
G
G
A
C
A
C
A
G
C
C
A
A
A
C
C
T
T
G
T
T
G
24750
C
T
G
G
G
C
A
T
C
C
T
G
T
A
T
T
T
T
C
T
C
T
G
G
C
A
A
T
C
C
T
C
A
C
T
T
G
G
A
C
T
T
G
A
A
T
T
T
T
C
24800
A
G
C
G
C
C
C
A
A
A
A
C
C
A
G
A
A
T
G
T
C
C
T
C
T
C
C
T
A
C
A
A
G
C
A
A
G
A
A
T
C
T
C
A
G
A
G
C
T
G
24850
C
C
A
G
C
G
C
C
C
C
C
A
T
G
A
A
T
T
C
C
C
C
C
A
G
G
T
C
T
T
C
C
C
C
C
A
C
C
C
C
A
G
A
C
C
G
T
G
T
G
24900
G
C
G
G
G
T
G
A
G
C
C
T
C
T
G
T
C
T
A
A
C
T
A
T
A
A
A
G
A
G
C
C
A
A
G
C
G
A
G
A
G
A
G
G
G
A
T
G
C
A
24950
C
T
G
A
G
G
T
G
G
C
T
C
T
G
C
A
A
T
G
C
A
T
G
T
T
T
G
T
T
G
A
G
G
G
C
C
T
T
C
T
G
T
G
T
G
T
C
A
G
G
25000 |
REPEAT
C
A
C
T
G
A
G
C
C
G
G
G
T
G
C
T
G
T
G
T
A
G
G
T
G
G
G
A
T
A
T
G
A
A
A
C
C
A
T
G
A
A
G
C
C
T
C
T
C
T
25050
G
T
G
A
C
C
A
A
T
A
C
A
C
A
G
A
A
A
T
C
T
C
A
A
C
C
T
A
G
T
T
A
G
G
G
A
G
C
T
G
A
G
A
C
C
G
A
A
A
T
25100
C
C
T
C
C
C
A
G
T
C
C
C
A
G
G
C
A
C
T
G
T
G
T
G
G
T
T
G
G
G
G
C
A
A
G
A
A
C
C
T
C
G
A
T
G
C
A
G
G
A
25150
G
A
C
C
C
C
A
C
C
G
A
G
G
A
T
G
A
G
C
A
G
G
A
A
A
A
G
C
C
T
C
C
T
T
G
T
G
G
G
G
C
T
G
A
G
G
A
G
C
T
25200
G
G
A
C
T
T
G
G
A
G
C
T
G
C
A
G
G
C
G
G
G
G
T
T
T
TGGAG GGGGTCCTGG GCTGGGGGAC
25250
CAGGGTGGGG C
G
CCCTGGAG GGCTCACTGG AGGGGCCCTC GCCCAGCCTG
25300 |
var(25262):[A:0.03]
TTGAGGTTTG CGATTCTTGT TTCCTGGTTC GAGTCTTGGC AAGTGGGCCT
25350
CATCTGCATC TTTAGGAAGA ATGGTTGGTG TTCGTGTCTT AGAAAGCCTG
25400
ACTTTCCCTC ATGTAAGCTG GATGATGAGT TGACAAATTA TGCAAAAAAG
25450
AGGCAAAAAC ATGACCCCTT TTCTAGCCAT GAATGTTTTA AGAAATGTTT
25500
TAAGACTCGG TATTGTCAGT AGTTTCATTG GTCTGTACAT GTGCCCAG
C
C
25550 |
var(25549):[T:0.02]
ACTATCACAG GACGGGAAAC TCCCCAGAGA AAAGAAAACC AAAATATGCC
25600
CGGGCTCCAA ACTTGCAAGT CCAGCTCCCT AGGGACAGCA TGTGGCACCC
25650
CTGTCAGTGC TTGCTCCCCT GGGACCGTGT TCCAAGTCCT GGC
G
GGTAGG
25700 |
var(25694):[A:0.33]
AGACCCTTCA CAGGAGCTGC CACAGGGACC CCCAGGAAGT CACCTGGGAT
25750
GGAGGTGTCC GT
G
CACCATG GGGGACAGGC TCACACTGCT GAACCGTCGG
25800 |
var(25763):[T:0.02]
GACACCAGGC AGGCACACCG GTTGAGGCAG ATGATGTTTC TGCACAGACT
25850
GGCGTCTCCT GGTCCCAGGT AGAAATCCTG CCACAGAGAC GGGAAAGGCT
25900
GCTCCCACAG GGAGCATCTT TTCCAAAGCA TGGACAGATG TGTCGTGTGC
25950
ATGAGACTTT AGAGAGCTCT GTGATGGAGT TGGTAGAAAG AAGAGATGAC
26000
TCCCTATATC AGTGAGTGTG TGGCACAGGC AGAGAAAAGA GACAGACAAG
26050
GAACTGTCCT TGGGTGGATG GCAGGAGACC GAAGAGGACA GCTTGGCATG
26100
GGGAGGGCC
G
GGCAGTGCCA CCTGAAGAGC TGGCTTCTCA GTCAGGCAAC
26150 |
var(26110):[A:0.01]
ACCTGTCCAC CTGGCCAGCC ACACTGAGCC TGTCACGTCT GTCACAG
G
C
C
26200 | Exon 7
A 250
C
T
G
C
T
C
A
T
C
A
A
T
G
A
G
G
A
A
A
A
C
G
A
G
G
G
T
T
T
C
T
G
T
G
G
T
G
G
A
A
C
T
A
T
T
C
T
G
A
G
26250 |
var(26242):[C:0.32]
L L I N E E N E G F C G G T I L S 267
C
G
A
G
T
T
C
T
A
C
A
T
C
C
T
A
A
C
G
G
C
A
G
C
C
C
A
C
T
G
T
C
T
C
T
A
C
C
A
A
G
C
C
A
A
G
A
G
A
T
26300
E F Y I L T A A H C L Y Q A K R 283
T
C
A
A
G
G
T
G
A
G
G
G
T
A
G
GTAAG TGACCAACAG CCCCCAGGGC CGTGGTG
G
GG
26350 |
var(26348):[A:0.10]
F K V R V 288
GGCACCGTCA CTGTCTGCTT TTCAGAAACC ACTAAAGCTG ATGGAATTTG
26400
TTGG
G
AACAC TGGTTGAAAT CCTGAAATCC TATTTGTAGG GGTTAGGGGC
26450 |
var(26405):[C:0.03]
ATTTCACAGA GGAAGAAGAT GAGGAAGCAG AGGAAGGGGA AGAGTGGGGA
26500
GGAGGACGGG GAGGGGAGGC GAACCAGCCC AGCCCTTCTC CCACTG
G
GTG
26550 |
var(26547):[A:0.01]
TCCAGGTCTC GGGTCTCCGA GTCTCTG
G
GT CCCGGGTCTC TGGGTCTGCA
26600 |
var(26578):[T:0.01]
TGTCCAGCTA ATGTTCTGTG TCTCAGTGTC TTTTATTGGG AGCCTTCCAG
26650
ACCTCCCTTT CTCTTTAACA TACTCTGAAC ACCAAGCACC TCTGTCTCT
T
26700 |
NOT SCANNED
C
T
A
T
T
T
T
T
A
T
T
T
G
T
G
G
G
A
T
T
G
T
T
T
C
A
T
T
A
A
C
A
T
C
T
G
T
C
T
T
T
G
T
C
C
A
C
T
A
G
26750
A
C
C
C
T
A
G
A
G
C
T
G
C
T
C
A
G
T
A
C
A
A
A
C
C
C
A
A
C
A
C
A
A
G
C
T
A
C
A
A
A
T
G
C
A
A
G
C
A
A
26800
T
A
T
A
T
G
T
A
A
A
C
T
G
A
T
A
T
T
T
T
T
C
T
A
A
C
A
T
T
A
A
A
T
G
T
T
C
T
A
T
T
A
T
A
C
A
T
T
T
T
26850 |
REPEAT
A
A
A
A
T
A
T
A
A
A
A
A
A
A
C
A
G
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
26900 |
REPEAT
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
26950
T
C
A
G
C
C
T
G
G
C
C
A
G
C
A
T
G
G
C
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
C
A
A
A
A
A
27000
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
C
G
G
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
A
G
C
T
27050
G
A
G
G
C
A
G
G
A
G
A
A
C
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
27100
G
A
T
T
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
C
G
G
G
C
A
A
C
A
G
A
G
C
A
A
A
A
C
T
C
T
G
T
C
T
C
A
27150
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
G
T
A
T
A
T
A
T
A
T
A
T
G
T
G
T
A
T
27200
A
T
A
T
A
T
A
T
A
C
A
T
A
T
A
T
A
T
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
A
T
T
T
C
C
A
T
A
A
T
A
T
A
T
C
T
27250 |
REPEAT
T
A
T
T
T
A
A
C
T
C
A
A
C
A
T
A
T
T
G
A
A
A
A
T
A
T
T
A
C
T
T
T
T
T
C
C
A
T
G
T
G
T
A
A
T
C
A
T
G
T
27300
T
A
A
A
G
G
T
G
T
A
A
T
A
A
C
A
C
A
T
T
C
C
G
C
A
C
A
T
T
T
T
C
T
T
T
C
A
T
G
C
T
A
A
G
T
C
T
C
T
A
27350
T
T
T
T
A
C
G
T
T
C
A
T
G
G
C
A
C
A
A
C
T
A
T
T
T
T
A
C
A
C
T
C
T
C
A
G
C
C
A
G
CGGCCACACC
27400
GCACAACCTG GGTCTGGGAT GCCAAAAGCC TTCGGTCCTG GGACGCCTCG
27450
TTGGTGCCCA CGACTGGCAC AGACGATGCA CCCGCCAAAG GACACAGGAG
27500
TGGCGGCCGT CTAAAGAACC AAACGTGTGA GACAGGAC
C
A
G
T
G
G
T
T
C
C
C
T
27550 |
REPEAT
G
G
G
C
A
G
C
A
A
G
G
C
T
G
A
C
A
G
G
C
A
C
T
T
T
T
A
T
T
T
G
C
T
G
C
T
T
T
G
C
A
C
T
T
C
C
C
T
C
T
27600
A
T
T
T
T
T
C
A
A
A
T
T
T
T
C
A
A
A
A
G
T
G
A
T
C
A
C
G
T
G
C
C
A
T
T
T
T
T
A
A
T
T
T
A
A
A
A
A
A
A
27650 |
var(27633):[G:0.01]
TATATATAAC TTCCTTAAAA AGCAACGGAT GTGCGAGAGC ATGTCCCTGG
27700
CTGAGCTGAG CACAGTCCCA CTCGTCTGTC CCAG
G
G
G
A
C
C
G
G
A
A
C
A
C
G
G
A
27750 | Exon 8
G D R N T E 294
G
C
A
G
G
A
G
G
A
G
G
G
C
G
G
T
G
A
G
G
C
G
G
T
G
C
A
C
G
A
G
G
T
G
G
A
G
G
T
G
G
T
C
A
T
C
A
A
G
C
27800
Q E E G G E A V H E V E V V I K 310
A
C
A
A
C
C
G
G
T
T
C
A
C
A
A
A
G
G
A
G
A
C
C
T
A
T
G
A
C
T
T
C
G
A
C
A
T
C
G
C
C
G
T
G
C
T
C
C
G
G
27850
H N R F T K E T Y D F D I A V L R 327
C
T
C
A
A
G
A
C
C
C
C
C
A
T
C
A
C
C
T
T
C
C
G
C
A
T
G
A
A
C
G
T
G
G
C
G
C
C
T
G
C
C
T
G
C
C
T
C
C
C
27900
L K T P I T F R M N V A P A C L P 344
C
G
A
G
C
G
T
G
A
C
T
G
G
G
C
C
G
A
G
T
C
C
A
C
G
C
T
G
A
T
G
A
C
G
C
A
G
A
A
G
A
C
G
G
G
G
A
T
T
G
27950
E R D W A E S T L M T Q K T G I 360
T
G
A
G
C
G
G
C
T
T
C
G
G
G
C
G
C
A
C
C
C
A
C
G
A
G
A
A
G
G
G
C
C
G
G
C
A
G
T
C
C
A
C
C
A
G
G
C
T
C
28000
V S G F G R T H E K G R Q S T R L 377
A
A
G
A
T
G
C
T
G
G
A
G
G
T
G
C
C
C
T
A
C
G
T
G
G
A
C
C
G
C
A
A
C
A
G
C
T
G
C
A
A
G
C
T
G
T
C
C
A
G
28050
K M L E V P Y V D R N S C K L S S 394
C
A
G
C
T
T
C
A
T
C
A
T
C
A
C
C
C
A
G
A
A
C
A
T
G
T
T
C
T
G
T
G
C
C
G
G
C
T
A
C
G
A
C
A
C
C
A
A
G
C
28100
S F I I T Q N M F C A G Y D T K 410
A
G
G
A
G
G
A
T
G
C
C
T
G
C
C
A
G
G
G
G
G
A
C
A
G
C
G
G
G
G
G
C
C
C
G
C
A
C
G
T
C
A
C
C
C
G
C
T
T
C
28150
Q E D A C Q G D S G G P H V T R F 427
A
A
G
G
A
C
A
C
C
T
A
C
T
T
C
G
T
G
A
C
A
G
G
C
A
T
C
G
T
C
A
G
C
T
G
G
G
G
A
G
A
G
G
G
C
T
G
T
G
C
28200
K D T Y F V T G I V S W G E G C A 444
C
C
G
T
A
A
G
G
G
G
A
A
G
T
A
C
G
G
G
A
T
C
T
A
C
A
C
C
A
A
G
G
T
C
A
C
C
G
C
C
T
T
C
C
T
C
A
A
G
T
28250
R K G K Y G I Y T K V T A F L K 460
G
G
A
T
C
G
A
C
A
G
G
T
C
C
A
T
G
A
A
A
A
C
C
A
G
G
G
G
C
T
T
G
C
C
C
A
A
G
G
C
C
A
A
G
A
G
C
C
A
T
28300
W I D R S M K T R G L P K A K S H 477
G
C
C
C
C
G
G
A
G
G
T
C
A
T
A
A
C
G
T
C
C
T
C
T
C
C
A
T
T
A
A
A
G
T
G
A
G
A
T
C
C
C
A
C
T
C
AAGG
28350 |
UTR
A P E V I T S S P L K 488
CCTGGTTTGT CTCTCGATTG CCGCCTTGCC CTGGCTTCTC CCGCCCTGTT
28400
GAGGTGGGAA GGTGAAGTGT CTGTCTGGAA CACCAGCTTC CGCCCTTCCC
28450
AGCTAGGCTG GGGATTCCTC CAGGGAATAT TCTAGTCTGT GGGGGCAGGA
28500
TGGAGGCTCC AGGGATGATA CTGTGCCATG ACTGCCATGG GCATTCCTTT
28550
CCCCAGATAC CTTCCTGCAT CTGGGTCACG CCCAGAGGCA GATGGGAGCC
28600
TGTGCAGGCC CCGTGGCGTC GGGAGGGGCC CACACGTTGG CGCAGCCTCC
28650
CCAAGACCCC CCACTTGGCC TGGTCTCTCT TGTTCCTCTT GGGAA
T
TGGA
28700 |
var(28696):[G:0.04]
CACCTCCCCG GTGACTGCCT ATGACCCGCA GACTCCCTGG GAGGGAAACG
28750
TCCAGAAAGC TTCTCATTGG GGCGGACATT TTACATTAAC TTAAACAACC
28800
AGGTGCTCTT CAACTGCACG GTGCCAGGCC CCACCCCAGC TCAGGCTTGT
28850
GTGGTGGGGG CCACAGGCAT CCCCCGGGCA GGTGACCTGC TCACCAGGCA
28900
GCGACCTGAC CTGGCA
C
A
G
T
T
G
G
C
C
C
C
C
A
C
C
G
T
G
G
C
C
A
C
C
C
T
T
A
G
A
A
C
C
C
28950 |
REPEAT
C
C
T
G
T
G
G
G
C
T
T
T
A
G
C
A
T
G
C
C
T
G
C
A
T
C
C
A
G
G
C
C
A
C
A
G
C
C
T
G
G
C
C
A
C
T
G
A
A
A
29000
T
C
A
G
T
C
T
C
T
G
G
A
G
T
G
A
A
G
C
T
G
G
C
C
A
G
G
A
G
C
T
T
C
T
G
G
A
A
G
C
T
T
C
T
G
G
A
G
C
T
29050
C
C
T
C
A
G
G
T
G
C TGAGTGGTGG TGGCGTGGCA GGCGGGGCTT CGGGGGGCTC
29100
CTCCTCTCCT AGGGTCCAGA TGTTTAGTCC TTGCC
C
TGCT GCAATCCGGC
29150 |
var(29136):[G:0.03]
ACTGTCCCTA GGCCTCAAGT TAACTGGCCA TGAAAATCAA ATGAACTTTC
29200
GGTAAACAGA AAAGATTCCG GACAAGGCCT GCCGTGTGTC TCCCAAACGT
29250
CTCCTGCAGT TTGCGTCTTG TGTAATGTCC CTAAGCAAAG TTCAACAGTT
29300
CTAGTACAAA AACTCCCCAA AAAAGTCATG AGCTGGGCAA AACCGTTCGT
29350
AAACAGATGT TGCGAAGTCA GGGAAAATCA AAGTGGACAG GTGTTCGACC
29400
TCCCAGAAAC GGTCTGAGGA GGGGCCGGTC TCCCAGGGTG GGCGGGAGGG
29450
CATTCCTGGC CTGCCCGCTC TGAGGCCTTC TCCGTGGA