KNG 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
TGGAGTAAGG ATGTTGATAC CATCAAGCCT CACACTTCTG CTGAGATTAT
50
CAACTGTAGT TTTCCAATGT TGG
T
CTACAG GTGGGGACCA TTCTGTAATA
100 |
var(74):[C:0.33]
TAGTTTCCCC ACTCTGTGTT GATGT
G
A
G
G
A
A
A
A
T
A
A
G
A
A
T
A
A
T
A
A
A
G
T
T
T
150 |
REPEAT
T
A
T
T
G
C
T
G
G
C
T
T
T
G
A
G
G
G
A
G
A
A
G
G
G
T
T
C
T
A
T
G
A
C
C
C
G
C
C
T
T
G
G
G
G
A
A
G
A
G
200
A
A
A
T
T
C
T
A
G
C
T
T
C
T
G
T
G
G
C
C
T
G
C
C
T
T
G
A
G
A
G
A
A
G
A
A
G
T
G
G
A
G
C
A
G
G
A
G
A
A
250 |
var(217):[T:0.33]
A
G
A
C
G
G
G
C
A
G
G
A
G
A
A
A
G
C
A
A
G
A
A
A
G
A
G
A
C
T
T
T
G
C
T
T
T
T
G
C
A
G
C
C
T
T
T
T
T
A
300
A
T
G
T
C
T
T
T
C
A
G
T
T
C
A
A
A
G
T
A
C
T
C
G
G
C
A
T
G
C
C
A
A
A
G
A
G
C
C
A
T
A
T
T
T
G
G
G
G
C
350 |
var(306):[C:0.33]
|
var(323):[T:0.01]
T
A
T
C
T
T
T
T
T
C
T
G
T
G
C
C
A
A
A
C
C
A
A
C
A
ACACC AAACCAGAAA GAAGCAAGCA
400
TAGGGAATCC AGGGCTTCAC TCAACCCATC CCTTCCTATG CTTTTCCTCT
450
ATCTCCACCC TGGGAGCAAT TTTCTTTTAC AGAACTAATG CAACTGAGCA
500
GAGAAAGGCT GGCCTGTCCA GAGAGCAGAT AGGACGCCCA TATTTTATTT
550
TCAGTTGTGC CAATGTCCTG CATGGGACTC CTGGAACTCA CTGGATGCCC
600
CTGTGCATGA G
C
TTCTTAGG CATGTAATAG AAT
T
AACAGC AGTCTGCTTC
650 |
var(612):[T:0.09]
|
var(634):[C:0.33]
TATGCAGGTA GGTATCCTGC AAAGAAACTT TGTATGAAAT GTGTCTGCAC
700
A
T
TGTACTCA TTCTTGCATT GTTTACCCAT GTAGTGACCT TCAAAAATGG
750 |
var(702):[C:0.04]
CTTTGCAAAA GTCACAGGGG AATAACCGAG TTAGTAGGCA CTTGTTTCCC
800
CTCCTTCATC AGATTCTGCT CTGATTTGCT ACATAAAGTT GTATAATCAC
850
CTGGAAATAT GCACTGTGCT GCCACGTGAT TTTCAAATGC A
A
ATGAGCAG
900 |
var(892):[G:0.33]
GTTAACAACC CCAGTGTTGC AATGTTCTAG CTGTAAATAT GTTTGGATAA
950
CCCAGCAGAG CCATTTAACC TTTGGGAACA AGGCAACTAG CGTCTGGCAG
1000
CAGGAATCCA ACCAG
T
GCCC TGAGTTCTGA GGCAGAGAGG AGGACAGAAG
1050 |
var(1016):[C:0.01]
AAACAAGAGG CTGGAGATTG TCAAATTCAG TATCCCAGTT GGCTCTTGAT
1100
TCTTGG
T
G
A
A
A
C
C
A
T
C
C
C
T
C
A
G
C
T
C
C
T
A
G
A
G
G
G
A
G
A
T
T
G
T
T
A
G
A
T
C
A
T
G
A
1150 | Exon 1 |
UTR
M 1
A
A
C
T
A
A
T
T
A
C
C
A
T
C
C
T
T
T
T
C
C
T
C
T
G
C
T
C
C
A
G
G
C
T
G
C
T
A
C
T
A
A
G
T
T
T
A
A
C
C
1200 |
var(1185):[A:0.33]
K L I T I L F L C S R L L L S L T 18
C
A
G
G
A
A
T
C
A
C
A
G
T
C
C
G
A
G
G
A
A
A
T
T
G
A
C
T
G
C
A
A
T
G
A
C
A
A
G
G
A
T
T
T
A
T
T
T
A
A
1250
Q E S Q S E E I D C N D K D L F K 35
A
G
C
T
G
T
G
G
A
T
G
C
T
G
C
T
C
T
G
A
A
G
A
A
A
T
A
T
A
A
C
A
G
T
C
A
A
A
A
C
C
A
A
A
G
T
A
A
C
A
1300
A V D A A L K K Y N S Q N Q S N 51
A
C
C
A
G
T
T
T
G
T
A
T
T
G
T
A
C
C
G
C
A
T
A
A
C
T
G
A
A
G
C
C
A
C
T
A
A
G
A
C
G
GTGAGTGAA
1350
N Q F V L Y R I T E A T K T 65
TTGTGTTTAA CCTTGAAGTC AC
T
T
G
G
G
A
T
T
T
G
T
A
C
T
A
T
C
A
C
T
A
G
G
A
G
T
C
C
1400 |
NOT SCANNED
A
G
G
C
C
T
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
T
A
C
C
A
C
C
A
C
C
A
G
C
A
C
C
C
A
C
C
A
C
C
A
C
C
A
C
1450
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
A
C
C
A
C
C
A
C
C
A
C
A
A
C
C
A
C
C
A
C
C
A
C
C
A
1500
C
C
C
A
C
C
A
C
C
A
C
C
A
C
C
A
C
C
A
T
C
C
A
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
C
C
C
A
1550
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
C
C
C
A
C
C
A
T
C
A
T
C
A
C
C
C
A
1600
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
C
T
C
G
C
C
A
C
C
A
T
C
A
C
1650
C
C
A
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
C
C
A
A
C
C
A
C
C
A
C
C
A
T
1700
C
C
A
C
C
A
C
C
A
C
C
A
A
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
C
T
A
C
C
A
C
C
C
C
T
C
A
C
C
A
C
C
C
A
C
1750
C
A
C
C
A
C
C
G
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
A
C
C
A
C
C
A
C
C
A
T
C
C
1800
A
C
C
A
C
C
A
C
C
A
C
C
C
A
A
C
C
A
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
1850
A
C
C
C
A
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
T
C
A
C
C
C
A
C
C
A
C
C
T
A
C
1900
C
A
C
C
C
A
C
C
A
C
C
C
A
C
C
A
C
C
A
C
C
A
C
C
A
C
C
C
A
C CACCACCCAC CACCCACCAC
1950
CACCACCACC CACCACCACC CACCACCACT ACCACCCCTC ACCACCCACC
2000
ACCACCGCCA CCCACCACCC ACCACCATCA CGCACTACCA AATATGTGAT
2050
CATCAAAGGT AGAAGCTTAC AACTTGTGGA AAGACAGATA CCACTCTCTG
2100
GCCTGGGGTG GGAGGACAGA GTATGACTCG TCCTCAGGCA GGTTGGCTTC
2150
CTGGATGATC AGAGAAGTAG AATCTAGGGT GAAATGAAAC AAAAGTAGAT
2200
GGAGAAATCT CA
A
CAGGACC AAGTAGAGAG GGAGAATTTA GGAATTTAGT
2250 |
var(2213):[G:0.30]
TAGACTGCAG CAAAAGAATT CACTGGGTCT CTGGCCCTAG GCTAAAAACT
2300
ATAGAACTCC AAACCTT
T
AA TGGGAGGGGG TACTTCATGG GGCATGTCTA
2350 |
var(2318):[A:0.30]
AGAGGAGTGA GGAATGAGGT TAATGTGATT CTACGGAATT AGACAGAAGT
2400
CTGTATGGCT GAATGTAC
T
G GGTTTAACAG CAACGTTTTA GTTAGTTTTT
2450 |
var(2419):[C:0.30]
GATATTATTG CAATGATGCA CTCCAGCAGG AGACAAATCC TGGCAGGATG
2500
CATGGTTCAA AGAAATACCA ATCTTTCAAG AGTATGTTTA AACAAATTTC
2550
ACTATAAAAG ACTATATCTC TGGGAATGTC AAGCAATTGG TTACTTTAGC
2600
AGAAAAAAAA AAACTAGCCA TGTGACAACA TGGGGATAAA GGAAAATAAA
2650
CACAGTGGAC ATGTTATTTT TTCTGAAAGT AAAATCGAGC CATTTTCTTT
2700
CATAATCTAG TACAGTCATG TGAGAAATTC TG
C
TTCATGG TGATCTCAAG
2750 |
var(2733):[T:0.29]
CAACAGTTTA TTGGTGGTGT GGTACCCAAT A
G
A
T
T
G
T
G
G
G
T
A
T
G
G
T
T
G
T
A
2800 |
REPEAT
A
A
T
A
T
A
C
T
A
A
A
A
A
A
C
A
T
T
A
A
A
T
T
G
T
A
T
G
C
C
T
T
T
A
G
T
G
G
G
T
A
A
A
T
T
T
T
A
T
G
2850
G
C
A
T
G
T
A
A
A
T
T
A
T
A
T
C
T
C
A
A
T
A
A
A
G
C
T
G
T
T
T
A
A
A
A
A
A
G
A
A
A
A
A
G
T
A
G
G
A
A
2900 |
REPEAT
A
C
A
A
A
A
T
A
A
A
C
C
A
A
A
T
A
A
A
A
G
T
A
C
T
A
A
A
A
T
C
A
C
C
C
A
T
A
A
T
T
A
A
T
T
C
C
A
C
C
2950
A
T
A
C
A
G
A
G
A
T
A
A
C
T
G
T
T
A
A
C
A
T
T
T
G
T
T
T
A
A
G
G
T
T
T
T
C
T
T
G
T
T
T
G
C
T
T
T
T
T
3000
C
T
A
A
T
T
T
G
T
A
A
A
A
G
T
C
A
T
A
T
A
C
G
T
T
C
A
T
TA GGGGAAAAAG ACCACTTAGA
3050
AATGTTTGCT TG
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
T
A
A
T
C
C
C
A
G
C
A
C
T
3100 |
REPEAT
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
G
G
G
A
T
C
A
C
G
A
A
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
G
G
3150 |
var(3111):[G:0.37]
|
var(3115):[T:0.37]
T
G
A
A
A
C
T
C
A
G
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
C
A
A
A
A
A
A
G
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
3200 |
var(3157):[C:0.46]
|
var(3192):[A:0.04]
|
var(3200):[A:0.38]
A
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
T
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
3250
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
C
T
3300
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
3350
TGTTTGCTTG AAGAAGAAAG TGAAAGATAA TTATAATCTC ACCACTGACA
3400
GACAAACATT TTAACAGCTT GCTGTGTATC TTTCCAGACT TTTAAAAGAC
3450
ATAGATTTAT ATATAAACCA GTTTT
G
ACAA AAATGGGCTA ATACTATGCA
3500 |
var(3476):[C:0.37]
TACTGCTTTG TAACCTTTAA AAGTACATTG TGAATATATT ATAAACATTC
3550
TTTCACATAA ATGTTTATGA TAGAAATATA AATATATTTT AAGTGAATGC
3600
TTTGCTCTCA AGTCAAAGAT CAATATTCCT AACTTTACCG GAACCCACTA
3650
GAATTATTTG CTGTTGGGTC AGTTGGATGA ACCCTAAGTA TCTTTGGCTG
3700
CTTTTCAG
G
T
T
G
G
C
T
C
T
G
A
C
A
C
G
T
T
T
T
A
T
T
C
C
T
T
C
A
A
G
T
A
C
G
A
A
A
T
C
A
A
G
3750 | Exon 2
V G S D T F Y S F K Y E I K 79
G
A
G
G
G
G
G
A
T
T
G
T
C
C
T
G
T
T
C
A
A
A
G
T
G
G
C
A
A
A
A
C
C
T
G
G
C
A
G
G
A
C
T
G
T
G
A
G
T
A
3800 |
var(3759):[C:0.04]
E G D C P V Q S G K T W Q D C E Y 96
C
A
A
G
G
A
T
G
C
T
G
C
A
A
A
A
G
C
A
G TAAGTGTATT GGCCATTCTT GGGCCTTCTG
3850
K D A A K A 102
T
T
TTCTCCGT TGACCCTGCC AGATTTTTTT ACTGATGCAG AAATGATGGC
3900 |
var(3852):[C:0.16]
TACTGGTGAG CCTGTTTATG AGAAATGCAA ATAAACATTC CAATGTGTAG
3950
AAAAGTCAGA TGCTTTATAT CTGTGTTCTT GTATAGACAG AAAAATCATG
4000
GAGAAGCCAG CAGTTAAACA TGGAGAAAGC CTTTCCATGA GAAGGGGGCT
4050
CTAGTGTCCA GCCAGAACAT GTGGCTCAGA CTCCAGAGAG ATAACAAATT
4100
GACATTTGGG CCAAGCCAAA GAGCTGGC
G
A GGGGAGGGGG TG
G
GTGCTTC
4150 |
var(4129):[A:0.12]
|
var(4143):[C:0.02]
CATTGCACAA
C
GT
T
A
A
G
T
G
C
A
A
A
T
C
T
T
G
A
C
T
C
T
G
C
C
T
T
C
C
A
T
T
A
G
C
T
G
T
G
4200 |
var(4161):[T:0.38]
|
REPEAT
T
G
A
T
A
G
C
G
G
G
G
G
A
G
C
T
G
T
G
A
C
C
T
C
T
C
A
G
A
A
C
T
G
G
C
A
C
T
T
T
C
T
G
C
T
G
T
A
T
A
4250 |
var(4208):[A:0.38]
T
G
G
G
A
G
A
T
A
A
T
A
T
T
G
A
C
C
T
C
A
T
C
A
G
G
T
T
G
T
T
G
G
A
G
G
A
T
G
A
A
A
T
C
A
G
A
T
G
A
4300 |
var(4297):[G:0.01]
A
T
T
A
T
G
C
A
A
A
T
A
A
C
T
T
T
G
A
T
A
A
C
A
A
T
G
G
C
T
ATCTTAACCA AATGCCTAA
C
4350 |
var(4350):[G:0.01]
ATATAGGCCT GGCACACC
A
T AGCTGGTTGT TTTGC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
4400 |
var(4369):[G:0.22]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
C
C
A
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
T
C
A
G
G
C
T
G
G
A
G
T
G
C
4450
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
G
C
T
C
T
G
C
C
T
T
C
C
A
G
G
T
T
C
A
C
G
C
C
A
4500 |
var(4465):[A:0.40]
|
var(4489):[G:0.40]
T
T
G
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
C
C
A
C
C
A
C
C
4550 |
var(4545):[G:0.39]
|
var(4546):[T:0.38]
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
C
C
G
G
G
T
T
T
C
A
C
C
G
T
G
T
4600 |
var(4586):[T:0.02]
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
T
C
C
T
G
A
C
C
T
G
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
C
C
4650 |
var(4636):[G:0.17]
|
var(4641):[C:0.39]
T
C
T
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
C
C
A
C
C
A
C
G
C
C
C
A
G
C
C
ATGGTT
4700 |
var(4653):[C:0.41]
|
var(4685):[G:0.33]
GTTTTGCTTT AATTAAGAAA GATTTCAGAC AGTATCTGCC TCAGAAGCAA
4750
G
C
CTCTCTTT TCATGGATTG ATTCCCTTCT TTTATGTCAG AACATAAAAG
4800 |
var(4752):[A:0.38]
ATGACTGCC
A
GTCATCTGCC ATTACCAAAG AGTACTGAAC TCCAAGTCAG
4850 |
var(4810):[C:0.38]
GAGTCTAGGA TTTTGCAGTG CTGGTTCTCC CTT
C
T
C
A
G
T
C
A
T
C
T
C
A
T
C
T
G
4900 |
REPEAT
T
A
A
G
G
T
G
G
G
G
A
T
A
A
GTAGCT GCTGTGCTCT GTACTGCCTG CTTCTAGGGG
4950
CTGTGTGGAC AAAGGGAGGT GTGCTTTATC CTGATGGAA
T
AGTATCTGTC
5000 |
var(4990):[C:0.34]
ACTTAGAATC CAATGGATAT GACTGAAGAA TGAAAAGACA AAACAAAACA
5050
AAAACACTGT TCAACAATAA CAATTAAACA GCTGCCTA
T
T
A
T
T
A
A
G
T
G
C
C
5100 |
REPEAT
T
G
C
T
G
T
G
T
G
G
C
G
G
G
C
C
T
C
T
A
G
T
A
G
G
C
A
T
T
T
T
G
T
G
T
G
T
G
T
T
T
G
C
A
C
A
C
A
T
A
5150 |
var(5112):[A:0.04]
C
T
G
T
T
C
A
C
A
A
C
A
A
C
T
C
T
A
A
G
A
G
A
T
A
G
A
T
G
T
A
T
C
C
C
A
T
C
T
T
C
T
A
C
A
A
G
A
C
G
5200 |
var(5190):[C:0.38]
G
G
T
A
A
A
C
T
G
A
G
A
C
T
C
C
A
A
G
A
G
T
C
A
A
G
G
G
G
A
C
A
T
G
A
C
A
G
A
G
T
T
A
A
C
A
G
C
T
A
5250
G
C
A
A
G
T
G
A
C
A
A
G
G
C
T
G
G
A
A
C
T
G
A
A
T
A
A
C
A
T
T
T
T
G
A
T
G
C
C
A
A
G
G
T
C
C
T
T
G
C
5300
C
C
T
T
T
C
T
A
T
T
A
A
G
T
T
A
A
A
C
T
G
AAGTTTATG TGAACAGTAT TAACT
C
ACTG
5350 |
var(5346):[T:0.38]
A
A
GTTGAGTG GTAGATAAGA GGAGTGTTTA GCAGGCTGGT TCTAGACCTC
5400 |
var(5352):[T:0.01]
TGCGTCCATC TTGGTTAGAA AGAAATAGCT CCAG
A
GCTC
A
G
C
C
A
G
G
T
G
C
A
5450 |
var(5435):[G:0.38]
|
REPEAT
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
G
T
A
A
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
A
T
T
G
G
A
T
5500
C
A
T
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
G
T
A
G
T
G
A
A
A
C
C
C
T
5550 |
var(5540):[C:0.22]
G
T
C
T
C
T
A
C
C
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
A
C
G
T
G
C
A
T
G
T
A
5600
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
C
A
G
A
A
T
C
A
C
T
T
G
A
A
T
C
T
G
G
G
A
G
5650 |
var(5606):[G:0.01]
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
A
C
C
G
A
G
A
G
A
T
C
G
C
A
C
T
G
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
5700 |
var(5657):[A:0.38]
T
A
A
C
A
A
A
A
G
C
A
A
C
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
T
A
G
G
A
A
A
C
A
5750 |
var(5704):[T:0.01]
A
A
A
GAAAAAA GAAATACCCT CCAG
G
GCTCA AAACAAAGAC TCAAGCTTTA
5800 |
var(5775):[A:0.07]
AAACCTCA
T
C ATTTACACTG TCTTTCCTCC AGCATCTCAT GAATATCAGT
5850 |
var(5809):[C:0.38]
GGCTTATATA AAGTAATCAT TAGGCTATTA AAAAAATTTA TTCTCATGTC
5900
TCAAAACT
C
T TTTGGTAAAA TCTTCACAAG TTTTGTTTTG TTTTGCTTTT
5950 |
var(5909):[T:0.04]
TAAGGAA
A
GC CACATTTAGC AACAGTATTA GGTAGACTTT CCCATCTGAA
6000 |
var(5958):[C:0.01]
AGATTAAGAT AAATGATCTC TTTCTTTTCT TTTTAG
G
C
C
A
C
T
G
G
A
G
A
A
T
G
6050 | Exon 3
A T G E C 107
C
A
C
G
G
C
A
A
C
C
G
T
G
G
G
G
A
A
G
A
G
G
A
G
C
A
G
T
A
C
G
A
A
A
T
T
C
T
C
C
G
T
G
G
C
T
A
C
C
C
6100 |
var(6054):[A:0.26]
T A T V G K R S S T K F S V A T 123
A
G
A
C
C
T
G
C
C
A
G
A
T
T
A
C
T
C
C
A
G
GTGGCTGGT TTATCCTCTG GCACTGCCCT
6150
Q T C Q I T P 130
GGTGGGAAAT TAACCATTTC TGTGAGCCAG GAACACAATC TTGACCAGGC
6200
TCTGCTTGCT CCCAGAGGGT GGCAGTAGTA AAGCCATTTG CAGAGTTAGG
6250
GAGCATTGGG TGGAGCGGCA GAGCCCGGAG GTTGAGCCAG GCT
C
GTGACC
6300 |
var(6294):[T:0.35]
ATCATCCCCT TAGGACTATC CCAACTCTTC CCGTGTGCTG CATTGTACCC
6350
AGTGTGTGCA AGGGCTCAA
C
AGAAGGACCA GAAGACATAA GACCTGCCCT
6400 |
var(6370):[T:0.16]
CCATTGCAGG CAGCAT
C
CCA GATTGAGGAG CGCATAGGCT TTGAGGGCAG
6450 |
var(6417):[T:0.01]
ACCTGGCCTG GAATCTTTCA G
A
G
C
T
C
C
T
T
G
C
C
T
T
C
T
T
G
C
C
T
C
T
C
C
T
T
T
T
C
6500 |
REPEAT
C
T
T
G
T
C
T
A
G
A
A
A
A
G
G
G
A
G
G
T
A
A
G
A
G
T
A
C
T
T
C
C
C
A
C
T
T
C
A
C
A
G
G
A
C
T
G
T
T
G
6550
T
G
A
G
G
C
T
G
A
A
A
T
G
A
G
A
T
G
A
T
A
TGCCTGGAG GTACAATCAT AATAACATAC
6600
TAACATATTA ATCATAATAA CATATTAGCA ACAATCAGGA TAAA
A
G
T
A
A
T
6650 |
REPEAT
A
G
C
T
A
A
G
A
T
A
T
A
T
T
G
A
G
T
C
C
T
T
A
T
G
T
C
C
C
A
G
C
C
A
T
G
A
C
T
C
A
A
A
G
C
A
C
C
T
T
6700
A
C
A
T
G
T
A
T
T
A
T
C
T
T
C
T
T
T
TT CTT
T
T
T
T
T
T
C
T
T
T
T
A
C
T
G
A
T
A
C
A
T
A
A
T
A
T
T
6750 |
REPEAT
|
var(6729):[-:0.69]
T
T
A
C
A
T
A
T
T
T
A
T
G
A
G
G
T
A
C
A
T
G
T
G
A
G
T
G
T
T
T
T
T
T
A
C
A
T
G
C
A
T
T
G
A
A
C
G
T
G
6800 |
var(6798):[A:0.44]
T
A
A
T
G
A
T
T
A
A
G
T
C
A
G
G
G
T
A
T
T
T
G
G
G
G
T
A
T
C
C
A
T
C
A
C
C
T
G
G
A
A
T
A
G
T
T
A
T
C
6850 |
var(6840):[T:0.44]
A
T
T
T
C
T
A
T
G
A
A
T
T
G
G
T
A
A
T
A
T
T
T
C
A
A
G
T
C
C
T
C
T
C
T
T
T
T
A
G
C
T
A
C
T
T
T
G
A
A
6900 |
var(6887):[C:0.05]
A
T
A
T
A
C
A
A
T
A
T
A
T
T
G
T
T
G
C
T
A
A
C
T
A
T
A
G
A
C
A
C
T
C
T
A
G
T
C
T
G
C
T
A
T
G
T
A
A
C
6950
A
T
T
A
G
A
A
C
G
T
A
T
T
T
C
T
T
C
T
A
T
C
T
A
A
C
T
A
T
A
A
T
T
C
A
G
T
A
C
C
T
A
T
T
C
A
C
C
A
A
7000
C
C
T
C
T
T
C
A
T
T
T
C
C
C
C
C
T
T
C
T
A
C
C
C
G
C
T
T
A
C
C
C
C
G
C
T
C
A
G
C
C
T
C
T
G
G
T
A
T
C
7050
T
G
T
C
A
T
T
C
T
C
T
T
C
T
C
T
T
C
T
C
T
A
T
C
T
C
C
A
T
G
T
G
A
T
G
G
T
T
T
T
A
G
C
T
T
C
C
A
C
A
7100 |
var(7064):[C:0.45]
T
G
T
G
A
G
T
G
A
G
A
A
C
A
A
T
G
T
G
A
A
G
T
T
T
G
T
C
T
T
T
C
T
G
T
G
C
T
T
G
A
G
T
T
G
T
T
T
C
A
7150
C
T
T
A
A
C
G
A
C
C
T
C
T
A
G
T
T
C
T
G
T
C
C
A
T
G
T
G
G
C
T
T
T
A
A
A
T
G
A
T
A
T
G
A
T
T
T
C
A
A
7200
T
T
C
T
T
T
G
T
T
T
A
C
G
G
C
C
A
A
A
T
A
C
T
A
T
T
T
C
A
T
T
G
T
G
A
G
T
A
T
A
T
A
C
C
A
C
A
A
T
T
7250 |
REPEAT
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
C
A
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
A
C
T
G
T
C
G
C
C
C
A
G
7300
G
C
T
G
G
G
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
A
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
7350
G
C
A
A
T
T
C
T
C
C
A
G
C
C
T
C
A
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
A
T
A
G
C
T
G
G
G
A
T
T
A
T
G
G
G
C
7400 |
var(7366):[-:0.23]
|
var(7391):[A:0.22]
A
T
C
G
C
C
A
C
C
A
C
G
C
C
C
G
G
A
T
A
A
T
T
T
T
T
G
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
7450 |
var(7416):[A:0.01]
C
A
C
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
G
G
T
G
A
T
C
C
A
C
C
7500
C
G
C
C
T
C
G
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
T
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
T
7550
G
G
T
C
C
C
C
C
A
C
A
T
T
T
T
C
T
T
T
A
T
T
C
A
T
T
C
A
C
C
T
T
T
T
G
A
T
G
G
A
C
A
T
T
T
A
A
G
T
T
7600 |
REPEAT
|
var(7575):[C:0.16]
G
A
T
T
T
C
A
T
A
T
C
T
T
T
G
C
T
A
T
T
G
T
G
A
A
T
A
C
T
G
C
T
G
C
G
A
C
A
A
A
C
C
T
G
G
G
A
G
T
G
7650 |
var(7635):[A:0.33]
G
A
A
G
T
A
C
C
C
C
T
T
T
G
A
T
A
G
G
C
T
G
A
T
T
T
A
C
T
T
T
C
C
T
C
T
G
G
G
T
A
G
A
T
G
C
C
C
A
G
7700
T
A
G
C
T
G
G
A
C
T
A
C
T
G
G
A
T
A
T
A
T
G
G
T
A
T
T
T
G
G
T
G
T
T
T
T
C
A
T
T
T
T
T
T
G
A
G
G
A
A
7750
T
C
T
C
C
G
C
A
C
T
A
T
T
T
T
C
C
A
T
A
G
T
G
G
T
T
G
C
A
C
T
A
A
T
T
T
A
C
A
T
T
C
T
T
A
C
C
A
A
C
7800
A
G
T
G
C
A
T
T
A
G
A
G
T
T
C
T
C
T
T
T
T
C
T
C
C
A
T
T
T
C
C
T
C
CTGGCTG TGTTT
A
CCGC
7850 |
var(7828):[A:0.49]
|
var(7846):[G:0.15]
TTACATGGCA GGCAGCGAGA GCTCTGTGGT GAAGAAGTCC AGGCTCCCAG
7900
GGGGTCCCTC CAGGTGTGCC ACTCACTCTG CAGCTACGTT CCCTTTTTAT
7950
GGACTTTGCC TCTATTGACC AGT
A
GGTTAG GGCTATCTGT TATGAACATT
8000 |
var(7974):[G:0.05]
ACTTGATAAT TTAATACAAA
T
T
C
T
T
T
T
T
A
A
T
A
A
T
A
G
C
C
A
T
T
C
T
A
A
C
T
G
G
G
8050 |
var(8021):[C:0.50]
|
REPEAT
G
T
A
A
G
A
T
G
A
T
A
T
C
T
C
A
T
C
T
C
A
T
A
A
T
G
G
T
T
T
T
G
A
T
T
T
G
C
A
T
T
T
C
C
C
T
A
A
T
G
8100
C
T
T
A
G
T
G
A
T
A
T
T
G
G
G
C
A
T
T
T
T
T
T
C
A
C
A
T
A
C
C
T
G
T
T
G
G
C
C
A
T
T
T
G
T
A
T
G
T
C
8150 |
var(8111):[C:0.50]
|
var(8130):[C:0.50]
G
T
C
T
T
T
T
G
A
G
A
A
A
T
G
C
C
T
A
C
T
G
A
G
A
T
C
A
T
T
T
G
C
C
C
A
C
T
T
T
T
T
A
A
T
G
G
G
A
T
8200
T
A
C
T
T
G
G
T
T
T
T
T
T
T
A
T
T
G
G
T
G
A
G
T
T
G
A
T
T
G
A
A
T
T
C
C
T
T
G
T
A
T
A
T
G
C
T
G
G
A
8250
T
G
T
T
A
G
T
C
C
C
T
T
G
T
G
G
G
A
T
G
C
A
T
G
G
T
T
T
G
C
A
A
A
T
A
T
T
G
T
T
T
T
T
C
T
T
T
C
T
T
8300 |
var(8263):[-:0.01]
|
REPEAT
T
T
T
T
T
T
T
T
T
C
T
T
T
T
G
A
G
A
C
A
C
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
8350
C
A
G
T
C
G
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
T
C
T
C
C
T
G
A
G
T
T
C
A
A
G
T
G
8400 |
var(8356):[C:0.33]
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
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
T
C
A
C
A
T
T
C
8450 |
var(8424):[C:0.48]
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
A
A
A
T
T
T
T
G
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
G
A
G
A
G
A
T
8500
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
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
G
G
C
G
8550 |
var(8517):[A:0.49]
|
var(8519):[C:0.48]
A
T
C
T
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
T
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
8600 |
var(8559):[C:0.48]
C
A
C
G
C
C
C
A
G
C
C
TCTTCTTTG TTTAGGGCAG TGTATGCGAA TGCT
G
ATTGC
8650 |
var(8645):[C:0.47]
GATCATTAAT GCTGTGTTTT TGTCTGCTCT TTGTTAAG
C
C
G
A
G
G
G
C
C
C
T
G
8700 | Exon 4
A E G P 134
T
G
G
T
G
A
C
A
G
C
C
C
A
G
T
A
C
G
A
C
T
G
C
C
T
C
G
G
C
T
G
T
G
T
G
C
A
T
C
C
T
A
T
A
T
C
A
A
C
G
8750
V V T A Q Y D C L G C V H P I S T 151
C
A
G
A
G
C
C
C
A
G
A
C
C
T
G
G
A
G
C
C
C
A
T
T
C
T
G
A
G
A
C
A
C
G
G
C
A
T
T
C
A
G
T
A
C
T
T
T
A
A
8800 |
var(8784):[A:0.01]
Q S P D L E P I L R H G I Q Y F N 168
C
A
A
C
A
A
C
A
C
T
C
A
A
C
A
T
T
C
C
T
C
C
C
T
C
T
T
C
A
T
G
C
T
T
A
A
T
G
A
A
G
T
A
A
A
A
C
G
G
G
8850 |
var(8830):[C:0.48]
N N T Q H S S L F M L N E V K R 184
C
C
C
A
A
A
G
A
C
A
G
GTTTGTTCT TTAATTCTCT AAGTAGCACA GTATTACTAA
8900
A Q R Q 188
AATTTGTTAG ATCTTTACAT TTAAAATGTA TGATTGCATG G
C
TGGTGGTG
8950 |
var(8942):[G:0.01]
TTTTCATGTG ACTAGCACAG GAAGCGAAGA GCTTTCTCCT TAGTCAAAGT
9000
GAGTCGGATA GTGCAATATG TAAAGTGAGA AAAGATGTCG AATCAGACCC
9050
CCTTCCTTTG ACGTTTGATT TTAACAAATG GGTAATCGTC ATTACAGGCT
9100
CTTCCTAGAG A
C
A
G
T
G
A
A
A
A
G
G
A
A
A
A
G
T
C
A
T
A
C
C
G
G
C
C
T
T
A
G
G
A
T
T
T
T
T
T
9150 |
NOT SCANNED
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
A
G
A
G
T
C
T
C
T
C
T
C
T
G
T
9200 |
REPEAT
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
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
G
C
T
C
C
G
C
9250
C
T
C
C
T
G
G
G
T
T
C
A
T
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
9300
T
A
C
A
G
G
C
G
C
C
C
G
C
C
A
C
C
A
C
A
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
T
A
T
T
A
T
T
A
T
T
A
T
T
T
T
9350
T
A
G
T
A
G
A
G
G
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
T
C
C
T
G
9400
G
C
C
T
T
A
G
G
A
T
T
T
T
A
A
G
A
A
A
A
C
T
A
T
A
T
T
A
T
C
A
C
C
T
A
G
C
C
A
T
C
A
T
G
A
G
T
T
A
A
9450
A
C
A
C
A
G
C
T
C
C
A
A
A
A
T
A
T
T
A
A
A
T
T
G
T
G
T
C
T
A
A
A
A
T
G
G
T
C
G
G
C
A
T
G
G
C
T
T
T
C
9500
T
G
G
G
T
A
C
C
C
A
C
T
A
A
T
T
A
C
A
G
T
T
C
C
C
A
T
A
T
C
A
T
C
A
G
A
A
A
A
A
A
A
A
A
A
G
T
A
T
A
9550
T
A
T
C
C
G
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
G
A
C
A
G
T
C
T
C
G
C
T
G
T
G
T
T
G
C
C
T
A
G
G
C
T
G
G
A
9600 |
REPEAT
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
9650
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
G
A
A
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
T
C
A
T
C
A
9700
C
C
A
T
G
T
C
T
T
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
A
G
G
T
T
T
C
A
C
C
A
T
G
9750
G
T
G
G
C
C
A
A
G
C
G
G
G
T
G
G
T
C
T
C
A
A
A
C
T
C
C
C
A
A
C
C
T
C
A
A
G
T
C
A
T
C
C
T
C
C
C
A
C
C
9800
T
C
G
G
C
C
T
C
G
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
C
T
G
A
G
C
C
A
C
T
G
C
A
C
T
C
A
G
C
T
9850
A
C
A
A
A
T
C
T
T
C
T
T
A
A
T
G
A
T
T
C
A
G
T
ACACCCA GACTTTTC
T
T
C
T
T
T
T
T
T
T
T
T
9900 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
G
T
T
T
T
T
T
G
A
G
G
A
A
G
A
G
T
C
T
T
G
T
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
9950 |
var(9922):[A:0.14]
|
var(9923):[G:0.14]
|
var(9933):[C:0.04]
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
C
A
T
C
T
T
G
G
T
T
C
A
C
T
G
C
A
A
C
T
T
C
C
A
C
C
T
C
C
C
10000 |
var(9996):[T:0.01]
A
A
G
T
T
T
A
A
G
A
G
A
T
C
T
C
C
T
G
C
C
T
C
A
G
T
A
T
C
C
C
A
A
G
T
A
A
C
T
G
G
G
A
T
T
A
C
A
G
G
10050 |
var(10021):[T:0.16]
C
A
C
C
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
G
G
T
A
G
A
G
A
C
A
A
G
G
T
10100
T
T
C
C
C
C
A
T
G
T
C
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
A
A
A
T
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
T
T
C
C
T
10150
C
C
C
G
T
C
T
C
G
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
A
T
G
A
G
C
C
A
C
C
A
C
G
C
10200 |
var(10185):[A:0.01]
C
C
G
C
C
C
CTCC CAGACTTTTC TGATAGTTGA CTGGGTCTCT TGTATTTCAG
10250
CCTCTTATTA TGA
G
TGATTC CCTTTGGTTA GTAACATTCT CTGCATTTAA
10300 |
var(10264):[C:0.04]
TAAACCTTAC AACTTGCTTT CATGCGAGCA TGCTTTACTC AATTATGTCC
10350
GTATAGTGCT ATCAGGGTGG GAGAGGCCCA GAATAAAGTA GAAGAAATCT
10400
TACTACTTGG TAACCTGGGA GCCTGAGGAC CCAACAGTAA AGACCACTCC
10450
CCTCTAAAGT TTTCTTTATC C
G
TCTAGAAG GGCATTATTA TTTTATGAAA
10500 |
var(10472):[A:0.16]
TTCAGTAAAC ATTTCTCTCT GCAGCCTGGC AGAGGAAATA TTGTTAGGAT
10550
TCACTTAAGG AAATCCATGT TCCAAAACTG GCTGAAAAAT AGAAAAATAT
10600
ATATATTGCT TGTCATTTTC AGATGGCTAG CGGTGTATGT GTGTGTGTGT
10650
GTGTGTGTTT GTGTGAGAGA TATGAGACTC TTAAGGTGCT CAATGTTTAT
10700
TCAGCATTTT TTTGCCTAGT AATAATAATA TTTTATATTT CTTGGGCACT
10750
TATTATATTG CCACACTGTT TTCTAAACTC CTCATAACAT TCATATCCCA
10800
CAGCGAATAA TGTTTAAACT GCCCTTTAAA TATTCAATCT GAAATTGTTT
10850
CAG
G
T
G
G
T
G
G
C
T
G
G
A
T
T
G
A
A
C
T
T
T
C
G
A
A
T
T
A
C
C
T
A
C
T
C
A
A
T
T
G
T
G
C
A
A
A
C
10900 | Exon 5
V V A G L N F R I T Y S I V Q T 204
G
A
A
T
T
G
T
T
C
C
A
A
A
G
A
G
A
A
T
T
T
T
C
T
G
T
T
C
T
T
A
A
C
T
C
C
A
G
A
C
T
G
C
A
A
G
T
C
C
C
10950 |
var(10924):[C:0.01]
N C S K E N F L F L T P D C K S 220
T
T
T
G
G
A
A
T
G
G
T
GTAAGTAGG CAAAAATTTA ATGATAAAGT TCTTAGCATT
11000
L W N G 224
TTGTTTACAT TTTG
A
TGGTA ACTATCAAGC TGGGTGGGAA GACTGTCACG
11050 |
var(11015):[-:0.84]
AAAAGTTTAG ATGAC
A
TTCA GCAATTCATA TTCACATTTA CTTGGGAAGA
11100 |
var(11066):[C:0.14]
CTAAAGCTCA CGTCACTGGT CAAGCTGCCT TACCTAACTG GCCAAAGAAT
11150
CTGCACAGCT AGCAATAAGT ATTTTTTTA
T
AAC
T
T
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
11200 |
var(11180):[C:0.03]
|
REPEAT
A
T
T
T
T
T
T
G
A
G
A
C
A
G
G
A
T
C
T
C
A
A
T
C
T
G
T
T
C
C
C
C
A
G
G
C
T
G
G
A
G
C
A
C
A
G
T
G
G
T
11250
G
T
G
A
T
C
T
C
A
T
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
A
C
C
T
C
G
C
A
T
G
T
T
C
A
A
G
C
T
A
T
T
C
T
C
C
11300 |
var(11265):[T:0.36]
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
A
G
G
A
C
T
A
C
A
G
G
C
G
C
C
A
A
C
C
A
C
C
A
C
G
C
A
T
11350
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
A
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
T
A
C
C
G
T
G
T
T
A
G
C
C
A
G
11400 |
var(11395):[G:0.20]
A
G
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
T
A
11450
A
A
G
T
G
C
T
G
G
T
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
T
G
C
C
T
G
G
C
C
A GCAATAAGTA
11500
TTTACAGAGC ATAACCAGGG ACTACGAATA GATAAAATGC TTGAACGGTC
11550
AACTGTATCT TTGTTATGTC TCCACACTTT CC
C
ATTTCCT TTTCTTCCCC
11600 |
var(11583):[T:0.20]
AGGTGCTCAA TGCCCATATG GTGTTCCCTT GCTCTACCCA GGGTTATTCT
11650
TCATGTCAAA CTTTTCTCTG TTTGTTTTCT CATCTTCCCT TCCCTACCTT
11700
TATCTTTAAT AAACAGACCC TGAGTCTCTA GCCCTTAGTG GTCCTTCTTA
11750
GCATCGTATC TTGTTATCTG AACCAAAATT ATATTAAAAT GGTATATCTC
11800
AAGGTAGTAG TAG
C
TAGCGA ATGTTAAGAT GGCGAAGACA TGATATGTGC
11850 |
var(11814):[T:0.01]
CCAGGGATGT TTGCATTTGA GCAGAAGACT GTGCTTTAGC CAAGGAAATG
11900
CTGCAAGTCC TTTGA
T
CTAG TAATTCTGCT TCTAATTCAT TTATATGGGA
11950 |
var(11916):[G:0.01]
AATCCAGACC ATAAGATGTT AATGTCAGTT GT
T
T
T
T
T
A
A
T
A
G
A
A
A
A
A
T
A
T
12000 |
REPEAT
T
G
T
A
A
A
C
A
A
A
T
A
G
T
T
T
A
T
G
C
A
A
C
A
T
T
A
C
A
G
A
A
T
G
G
T
T
A
A
G
T
A
A
A
T
T
A
C
A
G
12050
T
A
T
A
T
C
C
A
T
A
C
A
G
T
A
G
A
A
T
A
T
G
A
T
A
C
A
G
C
T
A
T
C
A
A
A
A
A
T
T
T
T
T
A
G
T
T
T
T
T
12100 |
var(12058):[G:0.01]
A
G
T
G
A
C
A
T
A
G
T
A
A
A
A
C
G
G
T
T
A
C
A
A
T
G
T
T
A
A
G
T
A
A
A
A
A
A
C
A
A
A
A
A
A
A
G
T
G
G
12150
G
A
T
A
C
A
A
A
A
C
T
A
T
A
C
A
T
A
C
G
G
A
T
T
T
A
T
T
T
A
A
A
T
A
T
G
T
A
A
A
A
T
A
A
A
T
G
T
A
A
12200
A
T
A
C
A
A
A
A
A
G
T
G
A
T
G
G
A
A
A
A
C
A
A
A
T
T
A
T
G
A
C
A
A
A
A
T
A
T
A
G
A
A
T
G
T
A
G
T
T
A
12250
A
C
T
T
T
C
A
G
T
T
G
G
A
A
T
T
G
T
G
G
G
T
G
C
T
T
T
T
T
C
T
T
T
T
T
T
G
A
G
A
A
G
A
G
G
T
C
T
T
G
12300 |
REPEAT
C
T
C
T
G
T
C
A
C
C
T
T
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
12350
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
T
A
A
G
C
A
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
C
T
G
A
G
T
A
G
12400
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
C
G
C
T
G
C
A
A
C
G
C
C
A
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
G
G
12450 |
var(12415):[A:0.02]
G
T
A
C
A
G
A
T
G
G
G
G
G
T
T
T
T
G
C
C
A
C
G
T
T
G
G
C
C
A
G
G
C
T
G
T
T
T
T
C
G
A
A
T
T
C
T
T
G
A
12500
T
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
T
G
G
C
C
T
T
C
C
A
A
A
G
T
G
C
T
G
G
T
A
T
T
A
C
A
G
G
T
12550
G
T
A
A
G
C
C
A
C
T
G
C
A
T
C
C
G
G
C
C
G
C
T
T
T
T
T
C
T
G
A
T
T
C
T
T
T
A
T
A
T
T
T
T
T
T
G
G
A
A
12600 |
REPEAT
|
var(12572):[T:0.04]
G
T
T
T
T
T
G
A
T
A
T
T
T
C
C
C
G
A
G
T
T
T
T
C
T
A
A
T
T
G
A
G
C
A
T
G
C
A
T
T
T
A
T
T
T
T
A
T
A
A
12650
T
T
G
G
A
G
A
A
A
A
A
A
GTAA
A
A
A
G
G
A
C
A
C
T
A
T
C
A
A
G
A
G
A
G
T
A
A
A
A
A
T
A
C
A
A
C
C
C
12700 |
REPEAT
A
C
A
G
A
A
T
G
A
G
A
G
A
A
A
A
T
A
T
T
T
G
C
A
A
A
T
C
A
T
G
T
A
T
C
T
G
A
T
A
A
G
A
G
T
T
T
A
A
C
12750
A
T
G
C
A
G
A
A
T
A
T
A
T
A
A
A
G
A
A
C
C
T
C
T
T
T
T
T
G
T
T
C
A
T
A
A
A
A
T
A
A
C
A
A
G
T
A
T
T
A
12800
G
A
A
A
G
G
G
C
A
T
G
G
A
G
A
A
A
T
T
A
G
A
A
C
T
T
T
T
G
T
A
C
A
T
T
G
C
T
G
G
T
A
G
G
A
C
T
G
T
A
12850 |
var(12823):[C:0.02]
A
A
A
T
G
C
T
G
C
A
G
C
C
A
T
T
A
T
A
G
A
A
A
A
T
A
A
T
T
T
G
G
C
A
A
T
T
T
C
T
G
A
A
A
A
A
C
T
T
A
12900 |
var(12876):[C:0.38]
A
C
T
A
T
A
G
A
A
T
T
A
C
T
A
T
G
T
G
A
C
C
C
A
G
A
A
G
T
T
G
C
A
C
T
C
T
T
A
G
G
T
A
T
A
T
G
C
C
C
12950
A
A
A
A
G
A
A
C
T
G
G
A
A
A
T
G
C
A
T
A
T
T
C
A
A
A
C
A
C
G
T
G
T
T
T
A
T
A
C
A
T
G
A
A
T
T
T
C
T
A
13000
T
A
G
C
A
G
C
A
A
A
A
T
T
C
A
T
A
A
T
A
G
C
C
A
G
A
A
A
G
T
C
A
A
A
A
C
A
A
C
C
C
A
A
G
T
G
T
C
T
A
13050
T
C
A
A
T
A
G
G
T
G
A
A
T
G
G
A
T
A
A
A
C
A
A
A
A
T
G
T
G
C
T
A
T
T
A
T
A
T
A
T
A
C
A
C
A
A
T
G
A
A
13100
A
C
A
C
T
G
T
T
C
A
C
C
C
T
T
T
A
A
A
A
A
G
A
A
T
G
A
A
A
T
T
C
T
G
A
T
A
C
A
T
G
C
T
A
C
A
A
T
G
T
13150
G
G
A
T
G
A
A
G
C
T
T
G
A
A
A
A
T
A
T
T
A
T
G
T
T
A
A
G
T
G
A
A
A
T
A
A
G
C
C
A
G
A
C
A
C
A
C
A
C
A
13200
A
A
A
A
A
T
A
T
T
G
T
A
T
G
A
T
T
C
C
A
C
T
T
A
T
A
T
A
A
A
A
C
A
C
C
T
A
G
A
A
T
A
G
G
C
A
A
A
T
T
13250
C
A
G
T
C
A
G
A
G
A
C
TATTGGAGT TGCTAGAAAT GTAATGTAGG C
T
T
T
T
C
T
T
T
T
13300 |
REPEAT
T
T
T
T
T
T
T
T
T
G
A
G
A
C
T
G
A
G
T
T
T
T
G
G
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
13350 |
var(13324):[C:0.33]
|
var(13348):[G:0.01]
A
G
C
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
13400 |
var(13356):[A:0.32]
|
var(13385):[A:0.01]
T
C
C
T
G
C
C
T
C
A
G
C
T
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
C
G
13450 |
var(13417):[T:0.04]
G
C
C
G
G
C
T
A
G
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
A
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
13500
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
C
A
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
13550
C
A
A
A
G
T
G
ACT TATCACACAG CACCTGGCTA TGTTTGTTTA TTATTCTTTT
13600
TTCCCCTCAC TTCTGGAGAC CTAGGCATAG GTCTTTCTAT TTGTTTGTTC
13650
TATTTGTTT
G
T
T
C
T
A
T
T
T
G
T
T
T
T
TCTCCCT CTGTTTTTAA ATTATGAAAT
13700 |
var(13660):[-:0.05]
CATGTCGAGT CAAAAATTAA CTTAGAATGC TGTTCTAATA ACATTATATG
13750
GAATTCTCAT TTTTGTTATT TTGTTTTTTT TTCCTTATCC AAGAAAGACC
13800
CTAACTTTAT TGGCAAGCAT GTTTATATTT CCAAGTATAT TGTTTTTGTT
13850
TGTTTAAACA TGTTATGAAT TTTTAGAGAT TATTTTTTCT TTTTGGTGCT
13900
GAGGTGAAAG AACATACCCT GTATTGTTTC TGCTTTGTAA AATGTATTGG
13950
ATCTTTTTGT GACCTGGTGT AAAAACAATT AAAAATAT
T
T GTATGATACT
14000 |
var(13989):[C:0.21]
G
G
C
C
G
G
G
C
A
C
G
G
T
A
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
T
G
G
G
T
G
G
A
14050 |
REPEAT
T
C
A
C
T
T
G
A
G
A
T
C
A
G
G
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
C
A
A
A
A
C
C
T
14100
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
C
A
G
A
C
G
C
C
14150
T
G
T
A
A
T
C
C
C
A
G
A
C
A
C
T
T
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
T
C
C
A
14200
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
T
14250
G
G
C
G
A
C
A
A
A
G
A
G
A
G
A
C
T
C
C
A
T
C
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
TAT ATATATATAT
14300 |
var(14253):[T:0.40]
ATATATATAC ACATATATAT ATACACATAT ATATATACAC ACACACAAAT
14350
ACATACAAAT TAGTATGATA CTTAT
G
AAAG TATCATTTAA AATCATATGT
14400 |
var(14376):[-:0.34]
AGCATATGAA AATACCATTT AAATAAATCT TTAATATGTT ATTCAAATCT
14450
TCTATGTTCT TGTTTATTTT TTATTCACTT GCCCTGTCTT AGATTTGTAA
14500
TTGCATACTA AATTTTCCCA CCATAT
T
ATT TCTATCCATT TCTATTCACG
14550 |
var(14527):[-:0.04]
TGTAATTTTT TCTACTTTAG GTATTTTGAT TCCATGCCTT CTGGTCTATG
14600
CTTTTGAAAA
A
TAAAATGAT CATTTTTACT ACCTTTAGGA ATGAGTGTTT
14650 |
var(14611):[G:0.05]
TGTTCTCGTG AATTTTACTT TGTCCAATAT TACTAATACT GTAGTTCCTG
14700
CTACGTT
T
AT ATTTGTCTCA CGTAGCTTTG TTCATCTGTT ATTTTTAAGC
14750 |
var(14708):[C:0.02]
TTTATACATT GTTTTTAT
C
A TAAGATGATT CTTGAAACTG TAATACATTG
14800 |
var(14769):[T:0.32]
ATTTGGTGTT TTAACAGTGT GAAAGTCTTA CCTTATTTTT TTAGAAATTT
14850
ACCTTTTTAC TTACATGGCT GTTATTTCTG TACTAGATCT TCCTGCTTTC
14900
C
A
T
GTGCTCA TGTATATGCA TGTATTTGTT GATGCTATTG ATACTATTAC
14950 |
var(14902):[G:0.10]
|
var(14903):[C:0.32]
CTTAGTATCT CTTTTGCAGT AAG
A
CTA
T
GT TTTGCTTCTT TCTTTTTTTT
15000 |
var(14974):[G:0.32]
|
var(14978):[C:0.05]
CTATGCAATG ATTTGGAAAG TACACGTCCT ATTCTTCAAT TTTACT
A
GTT
15050 |
var(15047):[G:0.01]
GTTTACTTTT AAGACTCTAA AAAATGTTTT TAACTGAGCA CTTATATGCT
15100
TTTTAAAAAC CAG
G
A
T
A
C
C
G
G
T
G
A
A
T
G
T
A
C
A
G
A
T
A
A
T
G
C
A
T
A
C
A
T
C
G
A
T
A
15150 | Exon 6
D T G E C T D N A Y I D 236
T
T
C
A
G
C
T
A
C
G
A
A
T
T
G
C
T
T
C
C
T
T
C
T
C
A
C
A
G
A
A
C
T
G
T
G
A
C
A
T
T
T
A
T
C
C
A
G
GT
15200
I Q L R I A S F S Q N C D I Y P 252
AAGGAATAAC ACATGTTGGC ACCGCAATAG AGGAATAGTG GTCCCAGACA
15250
ACTGGCTGAG TCTTTTCCTA TAAGTTGGGT TTTGGTTCCC GTGATATACT
15300
CCAAAGTCTG TGTAACCTGC AGACACAGAT GCACCCCTTG ATGAGAACAC
15350
TGTACCCCTT C
G
CTGCCCAG TTGTGCTGCA GCTCAGACTG TTCTTGTCAG
15400 |
var(15362):[C:0.33]
AATGGTTTAT GAAGACAGAA GGGAAATGTA TGACCCCTGG GCAAAGTTGG
15450
CCTTTGGGTA CAATGCCATC TGGTCTCTCT TCTCTGTAAG TTGTCCTTAA
15500
GTCAGATGTT GTAAGTTGAA GAGACCTGTA TTTTATTTCT AAGCACTCAG
15550
AACAAAACCC TTTCAATTAA GGTGGTTTTT TCCTGCATGT TATAATGGGA
15600
AGAAATGGAG ATAGTGTGAG TTTGTGGTCA GGTCAGTGTT TCTTATAACA
15650
AGGGTGTGCT TTT
C
TCATA
G
TTGGAAAACG TTTGTATGCG TTCCA
T
GAGT
15700 |
var(15664):[T:0.30]
|
var(15670):[C:0.32]
|
var(15696):[C:0.28]
AGTCTGAAGC TGCCTGTTCA TCAGAACCAT AGCACTTAAA CTTTTCTCAT
15750
GAGAGTCACT CCTTTAAATT AAGCATTGCT TTTTACAGTT TCCATCAAAA
15800
ATGCAAAAAT TCAGGAAAAG TGTAGCGTTT TGTTGGAGTT ACTCGCAC
T
T
15850 |
var(15849):[C:0.32]
TCCTATTGAA AATGTTTCCC TAAGTACACT GTGCTCTGAG GAGGAGAAAA
15900
GAAGAGAGGC AGGAAGTGAA AGTCAGACAG ACAACCTTCC CCCACTCACT
15950
ACTGGGCCTG GGCTCCCA
T
G TAGCCCCTTA TACATGTGGA TGCTGGTTCT
16000 |
var(15969):[G:0.01]
TGTGCAGGAG GGATGCTAGG CCAGGCTGCT ACTTCAGTGT ACATGTTGAC
16050
TTAAAACCTG ATCCTTTCAG
G
G
A
A
G
G
A
T
T
T
T
G
T
A
C
A
A
C
C
A
C
C
T
A
C
C
A
A
G
A
16100 | Exon 7
G K D F V Q P P T K 262
T
T
T
G
C
G
T
G
G
G
C
T
G
C
C
C
C
A
G
A
G
A
T
A
T
A
C
C
C
A
C
C
A
A
C
A
G
C
C
C
A
G
A
G
C
T
G
G
A
G
16150
I C V G C P R D I P T N S P E L E 279
G
A
G
A
C
A
C
T
G
A
C
T
C
A
C
A
C
C
A
T
C
A
C
A
A
A
G
C
T
T
A
A
T
G
C
A
G
A
G
A
A
T
A
A
C
G
C
A
A
C
16200
E T L T H T I T K L N A E N N A T 296
T
T
T
C
T
A
T
T
T
C
A
A
G
A
T
T
G
A
C
A
A
T
G
T
G
A
A
A
A
A
A
G
C
A
A
G
A
G
T
A
C
A
G
GTGTGTA
16250
F Y F K I D N V K K A R V Q 310
AACTATACTA CAAAAGCAGT AACACTATAG TCTATGTGCA AATTGCTGAC
16300
TAATTTTGCC ACTGATCTTG GCTCTGGATT GGGAAACCAT ACATTTGATA
16350
ATGTGATTTG GTGCATTAGA TTTGGTAAAT TAAGTGCCAA TCTCCCTGTA
16400
TGCTTCATCC CGGACAAGTA TTTTACAACA TTCTCTCTGT TTTCTATATG
16450
TAA
A
G
G
A
C
T
G
A
G
G
T
G
A
G
G
A
T
C
A
A
A
T
A
A
G
T
T
A
A
T
A
T
A
T
G
T
C
A
A
A
T
C
A
C
T
T
T
16500 |
REPEAT
TTCAAACTCT AAAATGCTAT ATAAATACAA TAGC
A
G
C
T
G
G
G
C
G
C
G
G
T
G
G
C
16550 |
REPEAT
|
var(16541):[A:0.40]
T
C
A
C
A
C
C
T
G
C
A
A
T
A
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
A
A
16600 |
var(16585):[A:0.03]
G
G
T
C
A
A
G
A
G
A
T
C
A
A
G
A
C
C
A
T
C
C
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
16650 |
var(16643):[C:0.10]
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
T
G
C
A
C
A
C
C
T
G
T
A
G
T
C
C
C
A
16700 |
var(16675):[T:0.26]
|
var(16686):[G:0.05]
G
C
T
A
C
T
C
C
A
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
16750
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
C
A
A
C
A
G
A
G
C
16800
G
A
G
A
C
T
C
T
G
T
C
TAAATAAAT AAATAAATAA ATAAATA
A
A
T
A
CAATAGCAA
16850 |
var(16838):[-:0.49]
CCATGATATA ATTAATAAAA TTCAGGGCTA GGGCCAGGAA GACTTACGCT
16900
ATGTCTTTCT GGACTCATCT CTCATTATAA CATCACATAA TGTCTTGGGC
16950
TCAGCCATAT CAGTCAATCC ATCA
T
TGCCA AGGCTCCACG CTTTCTTGCC
17000 |
var(16975):[C:0.01]
TCCATGTCTT TCACC
C
ACTG TTCTCTCTGC CTGGGATCCC GCTCTCCTGC
17050 |
var(17016):[T:0.24]
AAATGTACCC TCTGGGGATT CATCTCTCCT TTCATGCCCT ATCAATAGAA
17100
GACTGACAGG AGTGTCTT
C
T
G
G
G
A
G
T
C
A
G
G
A
G
A
C
T
C
A
G
T
T
C
C
A
C
C
A
T
A
G
C
17150 |
REPEAT
|
var(17137):[C:0.02]
A
T
C
T
G
C
C
G
C
T
C
A
C
A
T
C
C
C
A
G
A
T
C
A
C
T
C
T
G
G
G
T
G
G
T
C
A
T
T
C
A
A
A
C
G
T
T
C
T
A
17200 |
var(17167):[T:0.03]
A
G
C
C
T
T
T
G
T
G
G
C
C
C
C
G
T
C
T
G
T
A
A
A
A
T
G
A
G
T
G
A
C
T
G
T
A
T
T
A
G
A
A
G
A
GCCTA
17250 |
var(17237):[T:0.01]
CATT
T
T
G
C
C
G
G
G
C
A
G
A
G
T
G
C
C
T
C
A
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
17300 |
var(17255):[C:0.02]
|
REPEAT
|
var(17271):[T:0.01]
|
var(17281):[C:0.01]
G
C
T
G
A
G
G
C
A
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
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
17350
A
A
C
A
T
A
G
A
G
A
A
A
C
C
T
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
C
T
A
G
C
C
A
G
G
T
A
T
G
17400
G
T
G
G
T
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
A
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
17450
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
C
G
A
G
A
C
C
G
T
G
T
C
A
T
T
G
17500 |
var(17491):[T:0.01]
|
var(17492):[A:0.01]
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
C
T
T
C
T
C
A
A
A
A
A
A
A
G
A
G
A
A
G
17550 |
var(17521):[A:0.21]
AGCCTACATG TCTAGCAACT CCAATAGTCT CTGACTGATG TCATTATGGA
17600
CAGACCCCTA TTTTAGAGAC TAAAAATTGG CTTCCCTAAA TACAAGCTAA
17650
ATAAAAATAA TCAAAATAGA GCCAAATTGT TACAGCAAGC CAACATAATC
17700
CTCATAATCT GGTGAAAAAA TTCTCACTAA AAAGTTCATA CTTTTGGCTC
17750
AGAATTGAAT TTCTAGGAAT CTAAAGTAGG AGTCTT
T
A
T
A
T
A
C
A
A
T
G
A
T
A
17800 |
REPEAT
T
T
C
A
C
T
G
C
A
G
T
T
T
T
A
A
G
T
A
T
A
A
C
A
G
C
A
A
A
A
A
T
A
G
T
A
A
A
C
T
G
T
C
A
A
A
A
T
G
A
17850
T
T
A
A
T
A
T
G
A
G
A
A
T
G
A
T
T
A
G
A
T
C
A
T
G
T
C
T
G
G
C
A
T
A
T
C
C
T
C
A
G
A
A
T
A
G
A
G
T
G
17900
T
T
A
A
G
C
A
G
C
A
A
C
T
T
A
A
A
A
G
C
A
T
C
T
T
T
G
T
G
C
G
G
A
G
C
T
C
T
T
G
A
T
A
T
G
G
G
G
A
A
17950
T
G
T
C
T
T
G
T
G
T
T
A
T
A
A
T
A
T
T
C
A
G
T
G
A
A
A
A
A
A
A
G
G
A
G
G
C
A
T
A
A
A
A
T
T
G
A
A
T
A
18000
T
A
C
A
T
G
A
T
G
T
T
A
T
C
A
G
T
T
G
T
G
T
T
A
T
T
T
T
A
A
A
G
T
A
C
A
G
A
A
A
A
T
A
A
TGTGGG
18050 |
var(18001):[C:0.03]
AAAAAAAAA
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
G
G
G
A
G
G
C
C
G
A
A
G
T
18100 |
REPEAT
G
G
G
T
G
G
A
T
T
G
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
T
18150
G
A
A
A
C
C
C
C
A
T
C
T
ATAATATT AGGTTGGGGG GGGAGGAGGC GGGGAAAATA
18200
GAAAGGGGAA GAAAACGAAG AGAGAGAGGG AGAAGAGAAG AGCGCCGCAG
18250
GGAGGGGGGG GGAG
A
C
G
G
T
A
G
G
G
G
C
G
G
G
G
C
T
T
T
C
A
G
G
T
G
A
G
G
T
T
G
G
G
G
C
G
18300 |
NOT SCANNED
C
G
A
A
G
G
G
G
G
A
G
G
G
C
G
G
A
A
A
G
G
G
G
G
A
G
G
G
G
C
C
G
G
G
G
C
G
G
G
G
G
C
A
G
C
G
G
G
G
G
18350
G
C
G
G
A
C
G
A
C
C
G
A
G
A
T
G
C
G
A
G
T
G
G
G
G
G
C
G
T
T
G
A
G
G
G
G
G
A
A
C
A
C
G
A
G
C
G
C
G
G
18400
G
G
A
G
G
G
A
G
A
G
A
A
G
A
A
C
C
T
G
A
C
G
A
G
A
G
C
T
A
A
A
G
A
A
A
C
A
A
A
A
A
A
A
A
G
A
A
G
A
A
18450
A
G
C
A
G
A
A
G
A
C
C
A
G
A
C
A
A
A
A
A
G
A
A
A
G
A
G
C
G
A
A
G
G
A
C
A
G
A
C
G
A
G
G
A
A
C
G
C
A
G
18500
G
C
A
A
G
G
A
A
G
A
A
G
A
G
A
A
A
C
G
G
G
AACAGGACA AGGAAAAGAA AGGGCATAAA
18550
ATTGAATACA CATGATGTTA TCAGTTGTGT TATTTTAAAG TACAGAAAAT
18600
AATGTGGGAA AAAAAA
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
G
G
G
A
G
18650 |
REPEAT
G
C
C
G
A
A
G
T
G
G
G
T
G
G
A
T
T
G
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
18700
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
ATAATA
T
T
A
G
G
T
T
G
G
T
G
C
A
A
A
A
G
T
A
G
T
T
G
T
18750 |
REPEAT
G
G
T
T
T
T
T
G
C
C
A
A
A
G
T
A
A
T
G
G
C
A
A
A
A
T
C
A
C
A
A
T
T
A
C
T
T
T
T
G
C
A
C
C
A
A
C
C
T
A
18800 |
var(18753):[G:0.31]
|
var(18793):[G:0.29]
|
REPEAT
A
T
A
A
A
A
A
T
T
C
C
A
A
A
A
T
T
A
G
C
A
G
G
G
T
G
T
A
G
T
G
G
T
G
C
A
C
A
C
C
T
G
C
A
A
T
C
C
C
A
18850 |
var(18828):[G:0.31]
|
var(18842):[T:0.19]
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
A
A
G
G
C
A
C
A
A
G
A
A
T
G
G
C
T
T
G
G
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
18900
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
T
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
18950
T
C
A
G
A
C
T
C
C
A
C
C
T
G
G
A
A
A
C
A
A
A
C
A
A
A
A
A
A
A
CGAATGCCTC ATAGTCATAG
19000
TGGTGATTTT TAGGTGATGG AATAACACTA CTTTAATCTT TCTAATTTTC
19050
TGT
A
TTACTT T
T
GTAACTGA AAAAAAGTAA ACAAACTAGA TTAAAGTAAA
19100 |
var(19054):[G:0.32]
|
var(19062):[-:0.03]
TCAAAACTGA TACTTTGATC TCTCTGCTAC TTGAGCACTT GTTTCTATCC
19150
CAGACAC
G
AC CACCCTCTCT CTCTGATTTC ATTGCCATAT GACCACGTTA
19200 |
var(19158):[A:0.19]
GGTTTACTTG AAAGGGACGC CA
A
TCTATGC TATTCATGCT TTTTTCAGCT
19250 |
var(19223):[G:0.30]
TTAA
C
TTCTC ACTTTATATT TCTGCTTTCT TGTGAAATTA TTTTATTCTT
19300 |
var(19255):[T:0.20]
TTTTCGTTGT TGTTTTTTAA GAGAGACG
C
G
G
G
C
C
A
G
A
C
A
T
G
G
T
A
G
C
T
C
A
T
19350 |
var(19329):[G:0.25]
|
REPEAT
G
C
C
T
G
T
G
A
T
C
C
C
A
G
T
A
C
T
T
T
G
G
G
A
G
G
C
A
G
A
G
A
C
A
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
19400
C
C
A
G
G
A
G
C
G
A
G
A
C
C
A
G
C
T
G
G
A
G
C
A
A
C
A
T
A
G
C
A
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
19450 |
var(19403):[C:0.30]
A
A
A
A
G
A
A
T
T
A
A
A
G
G
C
C
A
G
G
C
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
C
A
C
T
19500 |
REPEAT
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
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
G
A
G
A
C
C
A
G
19550
C
C
T
G
A
C
C
A
A
C
A
T
G
G
T
G
A
A
A
A
A
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
C
A
G
C
19600
T
G
G
G
T
G
T
G
G
T
G
G
T
G
G
G
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
19650
A
G
G
A
G
A
A
T
C
A
C
T
T
A
A
A
C
T
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
A
A
A
G
A
T
C
A
19700
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
19750
A
T
A
A
T
T
A
A
A
A
A
A
A
A
A
A
A
G
A
A
T
T
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
T
A
T
G
G
T
G
G
T
A
T
G
T
19800 |
REPEAT
G
C
T
T
G
T
A
G
T
C
C
C
A
A
C
T
A
C
T
T
T
G
G
G
A
A
G
C
T
G
A
A
G
T
A
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
19850 |
NOT SCANNED
A
C
T
G
G
G
A
G
G
T
C
G
A
G
A
C
T
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
T
A
G
19900
C
C
T
A
G
G
T
G
A
T
A
G
A
A
C
A
A
G
A
C
C
C
T
T
T
G
G
G
C
A
A
C
A
G
A
G
C
A
A
A
C
A
A
A
A
A
GAGA
19950
G
A
G
A
G
A
T
G
G
G
G
G
T
C
T
C
A
C
T
A
T
G
A
T
G
C
C
C
A
G
G
C
T
G
G
A
C
T
C
G
A
A
C
T
C
C
T
G
G
G
20000 |
REPEAT
A
G
C
A
A
G
C
A
A
T
G
T
G
C
C
C
A
T
C
T
C
A
A
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
20050 |
var(20030):[C:0.01]
C
A
C
A
C
C
A
A
T
G
C
A
C
C
C
A
G
C
TC CCTTATTCTT TATTCTGAAT GTTGTAGGAA
20100 |
var(20053):[T:0.02]
TAGGCCACCA TGTATTGTAT GTCAGAGGTT TGCCATCAAA AACAGAACCA
20150
CTCATTCTCA AGCATGAATA TCTAGTCTTC TTAGTAGTTA CAGTTTTCTC
20200
TGTGGATTAA TGAATCAACA TTCTAGTATG CATATGTGTC TACATTAAGG
20250
ATGTCAGGGG GACACAAAGA GGTA
A
CCCAT CAGATAGCTG CCAAGTCAAT
20300 |
var(20275):[C:0.01]
CTGAATATTG CAAGAATTTC AAACTTACTT TAGAGAGATA AATCTTTACT
20350
AATTTTTGCA TTTAAAGAGA GCAATTTGGT TGCTTGGACA TAGTCACCCA
20400
AGGCAGCCTT GATGGAAGCA GCCAATTTAC TGGAAATCAA TTAAACATAT
20450
GATGAATTTG CTAAAAGCTA GTCTCCAAAA TGACCAATTT GCCAAATTGC
20500
TAAATATTTA TAGTTTT
A
AT CTTGCCTTGG GTTTGCACAT TTAGTCCTGT
20550 |
var(20518):[C:0.31]
TTGGATGCAT GTTGATTCCA CGTTGGGTTC ATATTTCAGA TATGAAACAC
20600
TTCCTGAATC TTCCATTTTC ACACATTAGT G
A
TTACAGTT TCATATAAGT
20650 |
var(20632):[T:0.04]
TTTATTTTGC CCTACCACCA CTGCTGCTGT CCCCAAGGCT GTTGATGCTC
20700
CTGTCTGCCT CTGCTGAGAT GAATAAACTT CCAAGATCTG TGTGTGCACA
20750
TGCAGAAATT TTTCCTTTGA CAAAGTCCTA GGAA
T
GTCAA ATAATATGTA
20800 |
var(20785):[C:0.06]
GATATATAAG ACTTGATGCA AATTGCCAGA ATCACCAAAT ATTTGCAATG
20850
ATGCCAATTT ACATTCACAT CACCTGGGTA TAAGACACCA GTTGA
G
G
C
C
A
20900 |
REPEAT
G
G
C
G
T
G
G
T
A
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
G
G
G
C
C
G
A
G
G
C
G
G
20950 |
var(20915):[C:0.10]
G
C
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
G
G
A
C
C
A
G
C
C
C
A
G
C
C
A
A
C
A
T
G
G
T
G
A
21000 |
var(20978):[A:0.02]
|
var(20993):[A:0.04]
A
A
C
C
T
C
A
T
C
T
C
T
A
C
A
A
A
A
A
A
C
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
T
G
T
G
G
T
G
A
C
A
C
T
T
21050
G
C
C
C
G
T
A
A
T
C
T
C
A
G
C
T
A
C
T
T
G
G
G
G
G
C
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
21100
T
T
T
A
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
T
G
T
G
T
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
21150
C
A
G
A
G
T
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
T
A
A
A
A
G
A
A
A
A
A
A
GAC ACCAGTTGAG
21200 |
var(21165):[A:0.36]
GATCTTAATT TGAATTCTCT
T
C
C
T
A
C
C
A
G
C
A
G
T
G
A
C
T
G
A
G
G
C
T
G
C
T
T
G
A
T
21250 |
REPEAT
T
C
C
T
A
T
G
C
C
T
G
G
C
C
A
A
T
G
C
C
A
C
G
T
A
T
C
A
T
C
A
A
T
T
T
T
T
G
T
T
T
T
C
A
T
C
T
T
T
G
21300
C
C
T
G
C
A
T
G
G
A
A
G
G
C
T
A
A
C
A
A
T
G
A
T
G
T
C
T
C
A
T
T
G
C
T
T
T
T
T
T
A
A
T
G
T
G
C
A
T
G
21350
T
T
T
T
T
G
T
T
T
A
T
T
A
A
T
G
A
A
G
T
T
A
A
A
C
T
T
T
T
T
T
T
T
A
G
G
C
T
T
A
A
T
G
A
C
C
G
T
T
T
21400
T
A
A
C
T
T
C
T
C
T
G
A
A
A
T
A
C
C
T
G
C
T
C
A
T
G
G
C
T
T
T
T
G
T
C
C
A
T
T
T
T
T
AGTGTTGG
21450
GCTTTA
T
ATT CATACAG
A
CA TTGATTCTAT ATCATAGTTT TCCCAGCTTG
21500 |
var(21457):[C:0.02]
|
var(21468):[G:0.01]
CCTTTCTACT TTGCTTATTG TGATTTTTCA GAAGCAGTTT TCATTTTTCT
21550
CTAGTCAAGT TTTAGTATTT TCCCCTTCCT TCAGATTTCT TTCCTCTGCT
21600
TTTCACCTAA GAAAGGCCTT CCTCATCCTG GGTTTTGGTG AATATTTATT
21650
TATTTGTTTA GTTGTTTTTT G
T
T
T
G
T
T
T
G
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
C
C
21700 |
REPEAT
C
G
A
A
A
C
A
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
T
G
A
G
T
G
T
A
G
T
G
G
C
G
T
G
A
T
C
21750 |
var(21702):[A:0.01]
T
T
G
G
C
T
C
A
C
T
G
T
A
A
C
C
T
C
T
G
C
C
A
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
21800
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
C
G
G
G
A
T
T
A
G
A
G
A
T
G
C
T
T
G
C
A
A
C
C
A
T
G
T
C
C
G
G
C
T
A
A
21850 |
var(21816):[T:0.06]
|
var(21845):[A:0.01]
T
T
T
T
T
A
G
T
A
T
T
T
T
T
A
A
T
A
G
A
G
A
C
A
G
G
G
A
T
T
C
A
T
T
A
T
A
T
G
T
T
A
G
C
C
A
G
G
A
C
21900 |
var(21884):[C:0.39]
G
G
T
C
T
C
G
A
A
C
C
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
A
G
G
C
C
C
C
C
A
A
A
G
21950 |
var(21907):[A:0.01]
T
G
C
T
G
G
A
A
T
T
A
C
A
G
G
C
A
G
G
A
G
C
C
A
C
T
A
T
T
C
C
C
G
G
C
C
AACA CATTTAAATA
22000
CTATGATTTA A
T
ACTAAATA ATTTGGTTGA GAAATTGGGC CACAAAATAT
22050 |
var(22012):[C:0.02]
TTAATGGAAG ATAGTGTTGA GTAGTGATTA AAACTGTTGC TAGAGATTAA
22100
AATAA
T
T
T
T
T
T
T
T
T
C
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
22150 |
REPEAT
|
var(22126):[G:0.40]
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
C
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
22200
C
A
G
G
T
A
A
C
T
C
C
C
C
T
G
C
C
T
C
A
G
C
C
T
G
T
C
A
A
A
T
A
G
C
T
G
T
C
A
A
A
T
T
A
C
A
G
G
T
G
22250
T
G
C
A
T
C
A
C
A
A
A
G
C
C
C
A
T
C
T
A
A
T
T
T
T
T
A
T
A
T
T
T
T
T
A
G
T
A
G
A
G
G
T
G
G
G
G
T
T
T
22300
C
A
C
C
A
C
G
T
T
G
G
T
C
A
G
A
T
T
G
G
T
C
T
T
G
A
A
C
A
G
C
T
G
G
C
C
T
T
A
A
G
T
G
A
T
C
C
A
C
C
22350
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
A
A
T
T
G
C
A
G
G
C
A
T
G
A
A
C
C
A
C
C
A
C
G
C
C
C
22400 |
var(22373):[A:0.35]
A
G
C
C
TAAAAT AATTTCTTAA TATTAAAAAT AGTAAGAGAA CAATAAAAAC
22450
CCCAAATAAT TTTTCTAATT ACAAAATTTA ATCCACATAA TTTCTATAGT
22500
AGTACTAACT CAGTATTTCA CCAATTCAAG ATTTGGCAGG ACAATA
A
GGC
22550 |
var(22547):[-:0.01]
ATATTTAAAA ACATTTTAAG TTTTTCTTCC TATTCCTGTT AGATTATTAG
22600
ATATTACAAC TTGAGCCCTT GAATTACTAG TGAATTTAAC AGCTGTTGGA
22650
CAATAAAACT CAAATAAATA CATAAATAAA TAAAAATTAT A
G
G
C
C
A
G
G
C
A
22700 |
REPEAT
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
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
C
T
G
G
G
T
22750
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
G
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
22800
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
T
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
A
G
G
T
G
G
G
C
A
A
C
22850
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
T
C
C
A
22900
G
G
A
G
G
C
G
G
A
G
G
T
T
G
T
G
G
T
G
A
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
22950
G
G
C
A
A
C
A
A
G
A
G
C
G
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
T
A
A
A
G
A
A
A
A
TTAT
23000
AGCTTGCTTA TTTCTTCCCC CACTTAGAAA AGGAAATGGG ACCAACCGAT
23050
AGCCAAATAT TTTAAATATG CATGCCAAGC TTTAATGCCA AAC
G
TGTACT
23100 |
var(23094):[A:0.01]
TTTTTGTATG TAACTCTCTA AGTTGGTCAA TTAAAATTTC AAGATTCTCC
23150
CTTAACATTT CTTAAAGATA AATGATTTAT TATGCAAATA TTTTTAAGCG
23200
TTTACTTTGT ACTAATTAAT TTTTCAG
G
T
G
G
T
G
G
C
T
G
G
C
A
A
G
A
A
A
T
A
T
T
T
23250 | Exon 8
V V A G K K Y F 318
T
A
T
T
G
A
C
T
T
C
G
T
G
G
C
C
A
G
G
G
A
A
A
C
C
A
C
A
T
G
T
T
C
C
A
A
G
G
A
A
A
G
T
A
A
T
G
A
A
G
23300
I D F V A R E T T C S K E S N E 334
A
G
T
T
G
A
C
C
G
A
A
A
G
C
T
G
T
G
A
G
A
C
C
A
A
A
A
A
A
C
T
T
G
G
C
GTGAG TAGTCATGCA
23350
E L T E S C E T K K L G 346
CCTGTCTACT TTTTCACTGG AAGCCTATTT GATGTTTTTA GAATCATTTG
23400
TTTAAATGTC TCGTGAATAA CACTGTCTCT CTTTCGACTT CTGTTTTCAT
23450
GGATAG
C
A
A
A
G
C
C
T
A
G
A
T
T
G
C
A
A
C
G
C
T
G
A
A
G
T
T
T
A
T
G
T
G
G
T
A
C
C
C
T
G
G
G
A
23500 | Exon 9
Q S L D C N A E V Y V V P W E 361
G
A
A
A
A
A
A
A
T
T
T
A
C
C
C
T
A
C
T
G
T
C
A
A
C
T
G
T
C
A
A
C
C
A
C
T
G
G
G
A
A
T
G
GTATGAT
23550
K K I Y P T V N C Q P L G M 375
TCTAATTACA GTCAGC
G
TGG GGTCAGTTCT GCTCATTCTG AAAATCCATA
23600 |
var(23567):[A:0.01]
TTTGGGGGCT GAAAATGAAC CATTACTGAA ATGAATTGGG GAGCTATCTT
23650
TTTTAAATGG GGAGTAACTC T
C
ACACTTCT GTGCTGATCT CTGTTTAATG
23700 |
var(23672):[T:0.02]
GCTAGAAAGA AGAGTAACAA TCCTCCTGAT CACTTCTCAC ACATTGTCAG
23750
TGTCTCAGTG AAGCTTCTAT AGACTCTCTC CTAGTGCACT GCAGTCCTGC
23800
TGTGGGGGAG CAACATTGGC TATGCCAGGT GTACCTGAGG CCAGATACAG
23850
CACTCCACTG CATTCTGCTG ACATGCAA
G
G
A
C
C
A
T
G
T
G
A
A
A
A
A
T
G
C
A
T
G
G
23900 |
REPEAT
|
REPEAT
C
T
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
T
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
A
G
23950
C
A
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
C
T
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
24000 |
var(23960):[T:0.01]
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
G
A
A
A
A
T
A
C
A
A
C
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
G
24050
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
G
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
C
C
T
T
G
A
A
C
C
24100
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
C
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
24150 |
var(24120):[C:0.01]
T
G
G
G
C
A
A
C
A
A
A
G
A
G
C
G
A
A
A
C
T
T
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
G
A
A
A
24200 |
var(24183):[G:0.02]
A
A
T
T
C
A
G
A
C
T
C
G
C
A
A
A
C
C
C
C
A
C
T
T
C
A
C
A
G
C
T
A
C
C
G
A
A
T
T
T
T
A
A
C
C
A
G
A
T
C
24250 |
REPEAT
C
C
C
A
G
G
G
G
A
T
T
C
A
T
A
T
G
C
A
T
G
A
A
T
C
A
A
G
T
T
T
G
A
A
A
A
G
C
A
T TCGTTGATGT
24300
CATCTTTCTT TTTTAAGTCT TAAAAGAACT CTGGGAGGTA GTAACACTTT
24350
CCCTATTGTC AAGGATGAGA CACTAAAAAT TAGAAAGACT CTGAGGTCCT
24400
GAGTG
A
A
T
A
A
T
G
A
C
A
T
T
A
T
C
A
A
A
T
G
C
T
T
C
C
T
C
T
G
T
C
C
C
A
G
G
C
A
C
T
A
T
A
C
T
24450 |
REPEAT
G
A
A
G
G
T
T
T
C
A
C
C
C
A
C
A
T
T
T
T
C
G
A
G
T
C
C
T
C
C
T
T
A
T
A
A
C
T
C
T
G
T
G
A
G
G
C
A
G
G
24500
T
G
C
T
G
T
T
A
T
T
A
T
T
T
C
T
A
T
T
T
T
A
C
A
G
A
A
A
G
G
A
A
A
A
G
T
G
A
A
G
C
TGATGGCAC
24550
TTGGATTCAA ATCTTGGTCA ATTCAGAGTC TACCCTTTCC ATCACGATGC
24600
TGATTACCAG TAGGGTCTGG CCGGACTCCA ATGACCATGT TCTTTGCATC
24650
ACCAGACACT G
C
TTCCAATT AACACATTCT CACAGGTAGC AAAAGTGTAG
24700 |
var(24662):[T:0.22]
GTAGAATTAA TCCACAGATC GACATATTTG AAGCAGGTTA CCTCTTTTCC
24750
CTCTTTTCTG ATTTGGTCTT TTGTCATGTG TAGGTATGTA GATGGTGTAA
24800
CACAAACATT GTCCTCAGGT TGCATTTCAA GCTTGCGAAT ATGTCCTAAT
24850
GTGCTTCAGC ACAACAAAGT GATCATGGAT ACATGCTCCC TATATATTCA
24900
GTTCATAAAG CCACTTAGGG CCTTTTAGGA TAAAAGCAGT GATGGTGGTA
24950
ATAACAGTAG TATCAATAAT TAAATACT
G
T GCTCAGTAAA AACATAGGCT
25000 |
var(24979):[A:0.01]
CAGAAGCTAC CCTAGAGATT AGCTAGTTCA ACCATCCAGA TGAAGCAAAA
25050
ACACTCCAGC TTATTTTACA GTTTTTTTTG TTGTTGTTTG GCTGGGTTTT
25100
TTTGTTTTTT TTTTGTTGTT GTTGTTG
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
T
T
T
G
A
C
A
25150 |
REPEAT
G
A
G
T
C
A
C
T
G
T
C
G
C
C
T
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
C
A
T
C
T
C
A
G
C
T
C
A
C
T
G
25200
C
A
A
C
C
T
C
C
A
C
G
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
25250 |
var(25250):[A:0.47]
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
25300 |
var(25289):[G:0.45]
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
G
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
25350
G
A
C
C
T
C
A
A
G
T
G
A
T
C
T
G
C
T
C
G
C
C
T
T
G
G
T
C
T
C
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
A
C
A
G
25400
G
T
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
ATTTTATG GTATTATTAA CAACAATAAT
25450
TAATGTCCAC AAATTTTAAG ATCAATCAAA AGACAAAAAA AATTATTCAT
25500
CCTTTCTGGA ATGTTAATAT AG
C
ATTTAAA ATCTGGCAAA CACCTCCCCC
25550 |
var(25523):[T:0.03]
ATTGTAAACT AAGATA
A
CAT TGCCAGATCT CAGTGTTTTT TTCTATCATC
25600 |
var(25567):[G:0.49]
AATAGCATGA TTTTTGCAGT AATACATTCA TCTTAATATT TTCTGTTTAG
25650
375
A
T
C
T
C
A
C
T
G
A
T
G
A
A
A
A
G
G
C
C
T
C
C
A
G
G
T
T
T
T
T
C
A
C
C
T
T
T
C
C
G
A
T
C
A
T
C
A
C
G
25700 | Exon 10
I S L M K R P P G F S P F R S S R 392
A
A
T
A
G
G
G
G
A
A
A
T
A
A
A
A
G
A
A
G
A
A
A
C
A
A
C
T
GT AAGTCCACCC CACACTTCCA
25750
I G E I K E E T T 401
TGGCACCTGC ACAAGATGAA GAGCGGGATT CAGGAAAAGA ACAAGGGCAT
25800
ACTCGTAGAC ATGA
C
TGGGG CCATGAAAAA CAAAGAAAAC ATAATCTTGG
25850 |
var(25815):[G:0.06]
CCATGGCCAT AAACATGAAC GTGACCAAGG GCATGGGCAC CAAAGAGGAC
25900
ATGGCCTTGG CCATGGACAC GAACAACAGC ATGGTCTTGG TCATGGACAT
25950
AAGTTCAAAC TTGATGATGA TCTTGAACAC CAAGG
G
GGCC ATGTCCTTGA
26000 |
var(25986):[A:0.07]
CCATGGACAT AAGCATAAGC ATGGTCATGG CCACGGAAAA CATAAAAATA
26050
AAGGCAAAAA GAATGGAAAG CACAATGGTT GGAAAACAGA GCATTTGGCA
26100
AGCTCTTCTG AAGA
C
AGTAC TACACCTTCT GCACAGACAC AAGAGAAGAC
26150 |
var(26115):[T:0.05]
AGAAGGGCCA ACACCCATCC CTTCCCTAGC CAAGCCAGGT GTAACAGTTA
26200
CCTTTTCTGA CTTTCAGGAC TCTGATCTCA TTGCAACTAT GATGCCTCCT
26250
ATATCACCAG CTCCCA
T
ACA GAGTGATGAC GATTGGATCC CTGATATCCA
26300 |
var(26267):[C:0.47]
GATAGACCCA AATGGCCTTT CATTTAACCC AATATCAGAT TTTCCAGACA
26350
CGACCTCCCC AAAATGTCCT GGACGCCCCT GGAAGTCAGT TAGTGAAATT
26400
AATCCAACCA CACAAATGAA AGAATCTTAT TATTTCGATC TCACTGATG
G
26450 |
var(26450):[C:0.06]
CCTTTCTTAA TTTAAGTGGC TATGGGTATT TCTTTCATAC TTTATTAAAG
26500
TATCAATATC CCTCTCTCCA TTGTCCAGAT GAAAATATCC TGATATAATG
26550
CACCAAAAAC C
A
TGCAG
C
TT CGGAACAGTC TAAAGAGAAG TGGTGAGACT
26600 |
var(26562):[G:0.06]
|
var(26568):[T:0.05]
CCCAGTGGAG ACACCATCAG TCTCCACGGA CTGCATAAAA TTGTGTGCCA
26650
CAATTCTAAC TCTTTTCTGA ATCTTCTTCC CAAGTTTTCT AAACTAGCAC
26700
AGTAAACAGA CAAACTAATG TGCC
G
TATGG CCT
G
CTGCAA TTGGCTTCTC
26750 |
var(26725):[T:0.01]
|
var(26734):[A:0.03]
TGATAACAAA TATGTACCTT ACAACATATG TCATGAATTT GCATACAAAG
26800
ATTCTTGTCA TTCTTAATAA ACTGTGGCAC TTGGTATTTG AATGTGTGTG
26850
AAAATAAGGG AAGTCAAGAG ATTAAATGCT GAACTTATTA ATGGAATAGA
26900
AATAATAA
G
G
A
G
G
C
T
G
A
G
G
C
T
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
26950 |
REPEAT
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
G
C
T
C
C
A
G
C
C
T
G
G
G
C
A
T
C
A
G
A
G
27000
C
A
A
G
A
T
T
C
T
G
T
C
T
C
A
G
A
A
A
A
A
A
A
G
A
A
A
A
A
A
A
A
A
G
A
A
A
TAA TAAGAAAAAC
27050
TTCCAGATTT CAAAGTAACA AGAAAGAAGA CAGGTTGGCC AAAGGGAGGA
27100
AAGGGGGGAC ATAAATTAAT TGACTTTCTA TTCCCAAAAT GGGCTAGTTA
27150
TATCAAATAA ATACTCCCAC TGCCCTTTCT GAGTGAGAGT GTTTCTCATA
27200
AGTCAAAAAT TTCTGT
T
TAC TCATTAACTA CTCTTTGCAA CAGGCTTTCA
27250 |
var(27217):[C:0.39]
TATAGAAGTA TTCTGTTTAT TTTTGCTGAG CCTAGATTGA GTAATTCTTA
27300
GTTTACAGAA GCTC
C
GAGCT TAATGATAAG GATGAAAAGC AGAGGGAGCA
27350 |
var(27315):[T:0.02]
ATATAGAAGC AGGCTTGCTA ATAAAACTTT TTAAATAATT GACAAGGGAA
27400
TATTATGGAA TGTGATGCAA AGTTTGTTCC
G
AAATTTTAT GAGGAAATTA
27450 |
var(27431):[A:0.24]
CTCTCTAGTC TCACTTTATA GTCTTTTTGC TATGACTTTG AAGACCA
T
TG
27500 |
var(27498):[C:0.04]
ATTTTTGAGA AGCAGAATAA
T
AGGATTGCC TTTCATTGCC CTATAGTGCA
27550 |
var(27521):[C:0.18]
AAGAA
G
GTAT ATGCTTTATA ACCAATGTTG TACTTTTGCC TAGAAAAACA
27600 |
var(27556):[A:0.37]
AGATATGGCT TTAAATAGCT ACAATCATCT TTGGATGTAT ATGTCACTGC
27650
TGCTTCAAGT TATTGGATGC ATTTGAACCT CTGAGTTT
G
T CTTTCATTTT
27700 |
var(27689):[C:0.07]
AAATATTGTC TGTTCTTTTA AATAAACAAC CACAGATGTC AGGAAAAAGT
27750
CTTACCTTGT CAACTGGTTG CTCCACTTTT TAAAAATGAT TGAATGATAA
27800
CATCATATTA ACTGCGTTTT ACTATACTTA CAG
A
G
T
C
A
C
C
T
A
A
G
G
T
C
C
T
G
27850 | Exon 11
S H L R S C 407
C
G
A
G
T
A
C
A
A
G
G
G
T
C
G
A
C
C
C
C
C
A
A
A
G
G
C
A
G
G
G
G
C
A
G
A
G
C
C
A
G
C
A
T
C
T
G
A
G
A
27900
E Y K G R P P K A G A E P A S E 423
G
G
G
A
G
G
T
C
T
C
T
T
G
A
C
C
A
A
T
G
G
G
C
A
G
A
A
T
C
T
T
C
A
C
T
C
C
A
G
G
C
A
C
A
T
A
G
C
C
C
27950 |
UTR
R E V S 427
C
A
A
C
C
A
C
C
T
C
T
G
C
C
A
G
C
A
A
C
C
T
T
G
A
G
A
G
G
A
A
G
G
A
C
A
A
G
A
A
G
A
A
A
G
A
T
G
G
G
28000
A
T
A
G
A
A
T
T
T
A
A
A
T
A
G
A
G
A
A
G
A
A
T
G
C
C
A
T
T
T
T
A
T
C
A
C
T
C
T
G
C
C
T
C
T
G
G
G
T
G
28050 |
var(28042):[G:0.01]
A
A
A
T
A
A
A
G
A
T
C
A
G
T
C
T
T
G
A
T
G
T
T
C
TAACTC TAATTCACAG TGGTCTCCTT
28100
TCAGCCCTAC CCATTCTGCA GCAAATTCCA GCTGGTCAGA GAGTCAGTGC
28150
TGTGGCTCTG CCATGGAGGC TCATAACCCA ACACTGGAAC ATTCCCTAGC
28200
CAAGGCAGAA GTCCTTAGGC GGGACTTCCT TACCACCACG GGTGCTAAAA
28250
GAAGAGTTAG TAGGTCATGC TTCTACCAGT AATCTAAGGA CTCTCTCCTT
28300
CTCTTCTTCC TCTTTCTCCA GATTTCCAAG CCTTAGCTAA GAGTAATTTG
28350
GCTTGTTTAG TATTGTTTTC TTATGGTCCA GTTAATTACC AAAAATATTT
28400
TTAAAATCAT CTCTGTTAAT AGAATGTCTA CCAACTTCTC ACTATCAGAA
28450
AATACTCAAC CTCCAAACAA TTTGAAATTA TCTTTCTGAT CCAGG
T
AAAG
28500 |
var(28496):[C:0.11]
AAGCAAATTG AAAATCAATA AAGTAAAAAG TGACGGAGAT TTTAAATTTT
28550
CTGTAATAAA AACACTTATT G
G
G
T
T
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
28600 |
REPEAT
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
G
G
T
G
G
A
T
G
A
C
C
T
G
G
C
G
T
C
A
G
G
A
G
T
T
28650
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
C
A
T
G
T
C
G
A
A
A
C
T
C
C
A
T
G
T
C
T
A
A
T
A
A
A
A
A
T
A
C
A
A
28700 |
var(28672):[G:0.38]
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
A
C
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
C
A
G
A
G
G
28750
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
G
C
C
T
G
A
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
28800
G
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
T
T
C
C
A
G
G
C
T
G
G
G
T
G
A
C
A
A
A
A
T
G
A
A
A
T
T
C
A
G
T
C
T
28850
C
A
A
A
A
G
A
A
A
A
A
A
A
A
C
A
T
T
T
A
T
C
G
A
A
C
A
C
C
T
A
T
T
A
C
A
G
C
C
A
T
T
T
G
C
T
A
T
G
C
28900 |
REPEAT
|
var(28873):[A:0.05]
T
A
G
A
T
A
A
T
T
T
A
C
T
T
T
T
G
G
C
A
T
A
T
A
A
C
T
T
A
A
T
C
C
T
C
A
C
A
A
C
C
A
C
T
C
T
A
A
G
G
28950
C
C
C
C
C
A
T
G
A
A
C
A
T
C
A
T
T
C
T
T
T
T
A
C
A
A
G
G
A
A
A
C
T
G
T
A
G
T
T
C
A
C
A
G
T
G
C
C
C
T
29000 |
var(28968):[T:0.01]
G
C
C
C
A
G
G
G
T
C
A
T
A
T
A
G
T
T
A
A
T
A
A
G
T
G
G
C
A
G
G
G
C
T
G
G
C
A
T
T
C
A
G
A
C
T
T
A
G
A
29050
C
C
T
T
T
T
G
A
A
C
T
C
C
A
TTACAC CATGTCATCT GAAGGCTTTA TTATTAATGT
29100
TGTCATTACA AAAGACACAC CAAGTCACTG ACTACAGTCA CAGAGACCCA
29150
ATAAATTAAA AAAAAAAAAA GGCATGCCAA GA
T
AATGTCT GACTCTGAGA
29200 |
var(29183):[C:0.30]
GGATCCTTGT CTCAATCCAA AATATCCTTA TTAAATACCT AATTGTGGCT
29250
GGTGCTGTTC TGTGTATTGG TCAGGATAAA CTGAGTTAAG CAGCAGTCAC
29300
TAACTATTTA CCATATGCTT CGCATGAGGT CCTGAGAGGA AAAGAAAGAA
29350
ATTTTAAAAG ACATAAATCC TTTCCCTCAA AGATCTTG