ADAMTS13 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
G
T
T
T
G
T
A
A
A
C
C
A
G
G
G
C
A
A
T
G
C
A
G
C
C
T
T
C
T
G
T
A
C
A
A
A
G
G
T
G
C
A
T
T
C
C
A
G
G
G
50 |
REPEAT
A
A
C
A
A
A
G
A
G
A
A
C
A
A
A
G
A
A
A
G
A
G
G
T
C
G
T
C
T
T
T
T
G
T
A
G
A
G
A
A
C
T
T
C
C
T
G
C
C
C
100
A
G
G
T
T
C
C
C
A
C
T
T
T
G
G
T
C
C
A
C
T
T
A
T
G
C
A
A
A
T
G
A
G
G
A
A
G
G
C
A
C
A
C
T
T
G
C
T
T
A
150 |
var(127):[G:0.02]
G
T
T
C
T
G
A
T
T
G
G
T
T
A
A
T
A
C
T
T
G
C
T
G
A
G
T
T
C
A
G
A
T
T
G
G
T
C
G
A
T
G
C
A
G
G
T
C
A
C
200 |
var(198):[G:0.01]
A
G
T
C
G
A
T
G
G
G
T
T
G
A
T
T
C
T
G
G
C
G
G
C
A
T
A
A
A
C
A
G
G
A
A
C
A
G
A
T
A
G
C
T
G
T
G
A
A
A
250 |
var(221):[T:0.12]
|
var(223):[A:0.09]
C
C
A
T
C
C
C
A
G
A
G
T
T
A
A
G
T
G
A
G
A
G
T
G
G
G
G
G
C
T
T
T
C
C
A
G
G
A
A
C
G
C
A
G
A
A
T
G
T
G
300
T
G
T
G
T
G
A
C
C
C
T
A
G
T
C
A
G
C
A
A
A
T
G
G
C
T
G
C
T
A
G
G
T
C
C
T
A
C
T
T
T
G
A
A
T
T
T
A
G
G
350
C
C
C
A
G
T
T
A
G
T
A
A
C
T
T
G
G
G
A
T
C
C
A
T
C
A
A
G
A
A
G
G
A
T
T
G
G
C
T
C
T
T
T
C
A
G
G
G
T
T
400
C
A
C
A
AAGTTA TTGGTGACCT TTT
A
A
A
G
A
T
C
A
A
T
T
T
C
A
A
T
G
G
T
A
T
G
T
G
G
G
A
450 |
REPEAT
A
T
T
G
A
A
G
G
C
A
A
G
G
A
A
G
T
G
G
A
G
A
T
A
G
C
C
A
C
T
G
A
A
A
A
T
A
A
T
G
T
T
T
C
T
A
A
G
T
T
500
C
T
T
A
A
A
G
A
C
A
G
C
C
A
G
A
A
A
C
A
G
G
G
C
T
A
T
G
G
C
A
G
G
A
G
G
A
C
A
G
T
G
T
G
G
G
T
C
A
A
550
G
G
G
A
A
G
G
T
T
G
T
T
G
A
T
T
G
T
A
A
T
C
A
A
G
A
G
A
C
A
C
C
A
G
A
G
T
G
T
C
T
G
G
G
C
T
T
G
G
T
600 |
REPEAT
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
A
G
T
C
A
G
C
T
C
A
650 |
var(614):[G:0.27]
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
T
T
G
G
C
C
A
A
C
A
T
G
G
C
G
A
A
A
C
C
C
C
A
C
700
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
C
T
A
G
C
C
A
G
G
C
G
T
G
A
T
G
G
C
G
G
G
T
G
C
C
T
G
T
A
A
750 |
var(731):[A:0.02]
T
C
C
C
A
G
C
C
A
C
A
A
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
T
G
G
800
C
G
G
A
G
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
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
850
C
A
C
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
C
A
A
A
C
A
A
A
A
A
C
C
A
A
A
A
A
G
A
G
A
C
A
G
G
900 |
var(860):[C:0.03]
|
REPEAT
A
G
A
G
T
C
A
T
T
C
A
T
G
C
T
G
A
T
G
G
A
G
T
G
A
G
C
C
A
G
GTACCAGGAT CTCGATATCT
950
AAGC
A
T
G
C
C
C
C
C
T
T
C
T
C
C
A
A
C
A
G
C
C
T
C
C
T
T
A
C
C
T
T
C
C
T
G
C
A
T
G
A
A
A
G
C
A
C
1000 |
REPEAT
A
C
C
C
T
T
C
C
C
T
C
C
A
G
T
C
C
C
C
C
A
T
T
C
C
T
T
T
A
T
T
C
T
G
C
T
G
T
A
T
T
T
T
T
C
T
C
C
A
T
1050
A
A
C
A
C
T
T
A
C
C
A
C
C
T
T
T
G
A
A
C
A
T
A
C
T
A
C
A
T
A
T
A
C
A
A
C
A
T
G
T
G
T
C
T
G
T
C
T
A
G
1100
C
A
A
C
T
T
T
G
C
T
G
T
C
T
G
G
C
T
C
T
C
T
T
C
C
C
T
A
G
A
A
T
T
T
A
A
G
C
T
G
T
G
A
G
A
G
G
C
C
G
1150
A
G
G
C
T
G
C
T
G
T
C
T
G
C
C
T
G
G
C
T
T
G
G
G
G
C
T
G
C
T
T
T
C
C
T
G
G
T
G
T
C
T
A
G
C
A
C
A
G
A
1200
G
C
C
T
G
G
C
C
T
G
T
T
T
C
A
G
G
G
G
C
T
C
A
G
T
G
A
A
A
C
A
T
T
T
G
T
T
G
G
C
T
G
A
A
G
G
A
A
T
G
1250 |
REPEAT
A
A
T
G
A
A
T
G
G
C
T
C
T
A
G
C
A
G
A
G
G
G
G
C
A
G
A
A
A
C
T
A
A
C
G
A
T
G
C
A
G
G
A
G
G
A
G
A
G
A
1300
G
C
T
G
G
G
A
A
GG GATCCAGAGC CAGGGCCTGG CAGGAAGTGT AGGTGTGTCC
1350
TCCCTGATCG CAGA
G
GAGGA GAGAGGCTGC ACTTTGAGGG GTGGAAAGAC
1400 |
var(1365):[A:0.01]
AAGGTGAATC CCCCTGCTGG TCATCAGCTT GTGCGGCTCT GTGGGTGTAA
1450
AAGAGTGGTT TGGAGCATGT GAAGTGAGTC TTCCAGGAGA TGAAGGGGAT
1500
TGCCAGGCCG TTT
G
TGATGA TGCTGAGATC TGGTGCCGTG CAGCCTGCTT
1550 |
var(1514):[A:0.01]
CTGCGACTCT CCTCATCAGG CGCAGGCACA GAGTAGGTGG AGAGTTGAGC
1600
CAG
A
A
C
C
A
C
G
A
T
G
T
C
T
T
T
G
G
C
A
C
A
G
C
C
T
C
T
C
A
T
C
T
G
T
C
A
G
A
T
G
G
G
A
G
C
G
G
1650 | Exon 1 |
UTR
G
G
A
C
C
C
C
G
G
A
G
A
G
G
G
A
G
T
C
A
G
C
C
G
A
G
G
T
C
C
T
G
G
C
A
T
T
C
C
T
T
G
T
G
A
A
C
C
C
C
1700 |
var(1691):[C:0.04]
C
G
T
C
T
G
T
G
G
G
T
T
T
C
T
G
G
T
C
C
A
G
T
G
T
C
C
C
T
T
C
T
C
C
A
G
A
T
T
A
G
A
T
G
G
C
T
T
A
G
1750
G
C
C
T
C
C
T
C
T
A
A
G
G
G
G
G
T
G
G
G
C
G
T
G
C
A
C
A
T
C
C
G
G
A
G
A
G
C
T
G
T
C
T
G
G
T
G
T
G
C
1800
A
G
G
A
C
T
G
G
G
C
T
G
C
A
G
G
T
T
A
C
C
C
T
G
A
A
C
T
G
C
A
A
C
C
A
T
C
T
T
A
G
A
G
C
A
A
G
G
C
C
1850
C
A
G
C
T
T
G
C
A
G
C
A
G
G
A
G
G
A
G
C
T
G
C
A
G
G
C
C
G
C
C
C
A
C
C
C
T
A
G
C
C
A
C
G
G
C
C
C
C
T
1900 |
var(1880):[T:0.01]
G
C
C
C
T
G
G
C
A
G
G
A
A
G
C
T
T
C
C
A
A
G
A
G
T
A
A
A
C
A
C
T
G
C
C
T
A
A
T
C
G
T
C
C
C
G
C
C
C
A
1950
G
T
A
G
T
G
A
G
C
A
G
G
C
C
T
G
T
C
C
C
A
T
T
C
C
A
T
A
C
T
G
A
C
C
A
G
A
T
T
C
C
C
A
G
T
C
A
C
C
A
2000
A
G
G
C
C
C
C
C
T
C
T
C
A
C
T
C
C
G
C
T
C
C
A
C
T
C
C
T
C
G
G
G
C
T
G
G
C
T
C
T
C
C
T
G
A
G
G
A
T
G
2050
M 1
C
A
C
C
A
G
C
G
T
C
A
C
C
C
C
C
G
G
G
C
A
A
G
A
T
G
C
C
C
T
C
C
C
C
T
C
T
G
T
G
T
G
G
C
C
G
G
A
A
T
2100 |
var(2066):[T:0.06]
H Q R H P R A R C P P L C V A G I 18
C
C
T
T
G
C
C
T
G
T
G
G
C
T
T
T
C
T
C
C
T
G
G
G
C
T
G
C
T
G
G
G
G
A
C
C
C
T
C
C
C
A
T
T
T
C
C
A
G
C
2150
L A C G F L L G C W G P S H F Q 34
A
G
GTGGGCTC ATTTGCAGGA GCGGGGGTAT TCTGGGAGCC TCTGGGTGGG
2200
Q 35
GTATTCTGAG CTACCTGGGG CGAGGGGAGT GCCAAATAGC TGACTACATC
2250
AGCTTTGGGG TTTGCGCTGG GCAGGGGAGT CTGTACTTGG GGCTTTGGGG
2300
GATGAAGTGT GCTCACTGAA GAGGGAGTTG GTGTCTCAGT ACGACCTGCT
2350
CATTCGGTGA AGCTGAACAG ACAGATACTA GTTTGTCCCA AACTGTGTAG
2400
GTTGCTCTTC TCTGCCT
C
TC CCTTCCTCTC CCTGTCTCTG ATTTCCCCCT
2450 |
var(2418):[G:0.05]
CTCCTTCTTG GTTGGCCTCA CCCACCTCCT GCCTCCTGTC TCCCTCTTCA
2500
TCCATCTCTT TTTGTTCTTT TTTCTTTCTC TCTCTCTCTT TTTTTT
T
T
T
T
2550 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
A
A
G
A
C
A
T
G
G
G
G
T
C
T
T
G
T
T
A
T
G
T
T
G
C
C
C
C
A
G
C
T
G
G
T
C
T
C
A
2600
A
A
C
T
C
C
T
G
G
A
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
G
G
T
C
T
C
C
C
C
A
A
G
T
G
T
T
A
G
G
2650 |
var(2631):[T:0.01]
A
T
T
A
C
A
G
G
C
C
A
G
A
G
C
C
A
C
T
A
T
G
C
C
C
G
G
C
C
C CATCCATCTC TTTTTGTCTT
2700
GCAG
A
G
T
T
G
T
C
T
T
C
A
G
G
C
T
T
T
G
G
A
G
C
C
A
C
A
G
G
C
C
G
T
G
T
C
T
T
C
T
T
A
C
T
T
G
A
2750 | Exon 2
S C L Q A L E P Q A V S S Y L 50
G
C
C
C
T
G
G
T
G
C
T
C
C
C
T
T
A
A
A
A
G
GTACTTGTC CTGGTGTCTT CTCTCCCGGG
2800
S P G A P L K 57
GGGAGTTTCT CAGGACTTTC AAGGGGTATC TCACCACTGA GTCAGTGGTC
2850
TGGGATTTTT GGTGGATCTG GAAGGAGAAG GTCAGAGAAG CTGCTGTCAA
2900
CCCTGTTAAT TAACTCTGTT ACTTCCTGCC AAGTTGATAT AAGCTGGTCT
2950
GGGTGTTCCA GCCAGGCCAG GGTTCTCACC CTAGCTTCTG TTAAATATCA
3000
CAAGGGAACG GTCACCGATT GGCTGGCCCC TCCTGCCCCA TGGCCTCTGC
3050
TGAGCTGGCT GATTTTCAGG AGCTCTTGTG GTTTCTGACC GTGGATGTAA
3100
ATATTTATTC CTTCTGTGGG AAACAAGATA GGTACTGGCT CAGGCTACCT
3150
CCTAAGGCCA TGGATTTCCT TATGATAAAG GCCT
G
TCCCC ATTGCCCACA
3200 |
var(3185):[A:0.01]
GGCCCATGTC TGTGACCTTC TCCGGTGCGA GCCCCCTTCC CAGTAGGGCC
3250
ATTGGCAACT TGACTAATGG CTGATGGGG
G
CCAGAGGCAG GTGGGCTAGT
3300 |
var(3280):[A:0.01]
GGTCAGGGGC AACAGGAGGG CAAGGCCCAC TTTGTGACCT GGTTCTTTGT
3350
GGTCTAGGCC AGAGGCACAC TGACCAGTGC CTGGGGCCAC GCTGGGGGCT
3400
GGATGCAGCC GA
C
GCTGTCT GGGTATCCCA TAGCCTGGGT CCTTCCAGCG
3450 |
var(3413):[T:0.19]
CTGC
C
GCTCC TGAAAGGCTG GGAGATCATT GCCCAGGGTC CCTGACCCTC
3500 |
var(3455):[T:0.03]
TAAGGGCTCC CTTGGGAGAG GACAGTGAGG GCTGGCCTGG GCCCCTGCTT
3550
CCCAAGAGAC CACTGGGCTC CACTCGTGTT CAGTTTCCTG TCGGGGTCCA
3600
TGATGTTACT TGTGAAACAC CTGTGCCCAG AGCAGGGTCC AGGAGGCAGG
3650
GCAGGGGCTT TCCCCTTTGG GCAGAGCCAC CAGGGCAGTG GGAATCTTGT
3700
CTTGATGGGG TGA
C
CCAAAG CACACAATAG CCCAACAGCT CCTCCTGGGC
3750 |
var(3714):[G:0.04]
CCTGCCCTTT GCGTGCCTAG TCACT
A
ATGG GGTCTGGCTC TTGG
G
GTGGG
3800 |
var(3776):[G:0.10]
|
var(3795):[C:0.01]
GGTGAC
A
CGC AATGTCTTGA CTTCGGAAGG CCATCCTTCC AAGACCTGCC
3850 |
var(3807):[G:0.01]
AGCCC
C
T
C
TC CTGTTAGCTT TCCACT
G
CTT GCTCTCTAGA ACCATCGCCC
3900 |
var(3856):[T:0.03]
|
var(3858):[T:0.28]
|
var(3877):[A:0.01]
TCTGCT
C
TCC CTCTCCCCCT CCAG
G
C
C
G
C
C
C
T
C
C
T
T
C
C
C
C
T
G
G
C
T
T
C
C
A
G
3950 |
var(3907):[T:0.01]
| Exon 3
G R P P S P G F Q 66
A
G
G
C
A
G
A
G
G
C
A
G
A
G
G
C
A
G
A
G
G
C
G
G
G
C
T
G
C
A
G
G
C
G
G
C
A
T
C
C
T
A
C
A
C
C
T
G
G
A
4000
R Q R Q R Q R R A A G G I L H L E 83
G
C
T
G
C
T
G
G
T
G
G
C
C
G
T
G
G
G
C
C
C
C
G
A
T
G
T
C
T
T
C
C
A
G
G
C
T
C
A
C
C
A
G
G
A
G
G
A
C
A
4050
L L V A V G P D V F Q A H Q E D 99
C
A
G
A
G
C
G
C
T
A
T
G
T
G
C
T
C
A
C
C
A
A
C
C
T
C
A
A
C
A
T
C
GTGAGTGC CCCACGCTGG
4100
T E R Y V L T N L N I 110
ACTGTGCAGG TCCCCACGGC CAGGGCTGGT GACCAATGTC TGTGGGCTGG
4150
TGTATCTGGT AGTCTGAATA CAGTGGGTTA AACTCAGGTA GAATGGCTCG
4200
GGGTTCTTCC TCTTCTCCCT CCCTCCCCTG GGTGGAGGTG GGTGAGGTCC
4250
CACACCCTCT CTAGGCTCCA TGGCACATGC ACACCCTGCA GCCTCTCACT
4300
ACTCAAGTCC CTTCACCTGG GGCCACCCTC AAGCCTGGCC TCTTCCCCAG
4350
TATCCATTTG ACCCCCACAA AGCTCAGCTA AAGCAACCCT GGCAAATGGG
4400
ATACGGGCTG CTCACACTGC CCTCTGCACC CCGACCCTGC CCTCTCTCCA
4450
TTCTCTTGTC CCC
C
GCTCAG AGTGGCGAGG ACAGGTCACC CGTCTGAAGT
4500 |
var(4464):[T:0.19]
CTAAACAGAG ACTGCTGGCA AAGGAGATGC CCACCTTCAT TTCTTGCTAG
4550
CACCTGAATC CCTGCAGCCC CCCTTCACTT GAAAG
C
TGGG GAAGGGCGGG
4600 |
var(4586):[G:0.01]
CAGGGAAGCA CTCCCCCACT AGCCGCCGTC TCAGAAAGAC AAACAA
G
G
C
C
4650 |
REPEAT
A
G
G
C
G
C
G
G
T
G
G
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
G
C
C
A
A
G
G
C
G
4700
G
G
T
G
G
A
T
C
A
C
C
C
G
A
A
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
4750
A
A
A
C
C
C
C
G
T
A
G
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
C
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
A
G
G
4800
C
G
C
C
T
G
T
A
A
T
C
TGAGAGGAG CCTGCGATCT GAGAGGAGCA GCGTTTGACC
4850
GGAATATCCG ACTCGTGACC ATCTGTGTGC TCTCATCCCC TTGCTTTGGA
4900
GTTTGTTTTC CT
T
GCGTTAG TTGGCCTTCC TGAGCCATGA GCTGAGGAGC
4950 |
var(4913):[C:0.03]
AACAGAGGCA CGGCTGACTG TGCAGCACAT TTTAGGAGCC CCCCGCCCCG
5000
CCCGGTTCCC ACACATGCTG GTGGAGTAGC CTCTCCAGCT CTTCACACTC
5050
CGGGGGCCCC TGGGAGTCAG CAGCTGCCTG GGGCTGGCAA
T
GCCCACCCG
5100 |
var(5091):[C:0.04]
ACGGGTTACC TCTCTCATCT GCCCTTGCAC AG
G
G
G
G
C
A
G
A
A
C
T
G
C
T
T
C
G
G
5150 | Exon 4
G A E L L R 116
G
A
C
C
C
G
T
C
C
C
T
G
G
G
G
G
C
T
C
A
G
T
T
T
C
G
G
G
T
G
C
A
C
C
T
G
G
T
G
A
A
G
A
T
G
G
T
C
A
T
5200 |
var(5156):[A:0.01]
D P S L G A Q F R V H L V K M V I 133
T
C
T
G
A
C
A
G
A
G
C
C
T
G
A
G
GTAG GCATGGAGCT GGAACTCAGC ACACCATACA
5250
L T E P E 138
GAGCGGGAAG CCCAAGTCAT CGCATCT
C
CA TCCTCTTTAA CCTCTTGTCC
5300 |
var(5278):[T:0.04]
CGGATGCCCC A
A
G
C
A
G
C
A
T
G
G
A
T
C
A
C
A
G
A
A
T
G
C
A
T
T
C
A
G
C
C
A
G
A
C
A
G
A
C
C
5350 |
REPEAT
A
G
C
T
G
C
C
C
T
C
C
C
A
G
C
T
C
T
A
C
C
C
A
G
C
A
C
T
C
A
G
C
A
C
A
G
G
C
T
G
C
C
T
G
A
C
T
A
C
T
5400
T
C
T
C
T
G
A
G
C
C
T
C
A
G
T
T
G
T
C
T
C
A
T
C
C
C
T
A
A
C
A
C
G
G
G
C
T
A
G
T
C
A
T
A
G
G
G
T
T
G
5450
T
T
A
G
G
A
G
G
A
C
T
A
A
C
T
G
G
G
A
A
A
C
A
A
A
C
C
G
A
C
C
G
C
A
G
T
C
A
G
C
A
C
C
G
T
G
C
C
T
G
5500
G
TTGGGGTGT CCTAAATGCA GGCTTTGCTG TGGGTCCGCA G
G
G
T
G
C
C
C
C
A
5550 | Exon 5 |
var(5547):[T:0.44]
G A P 141
A
A
T
A
T
C
A
C
A
G
C
C
A
A
C
C
T
C
A
C
C
T
C
G
T
C
C
C
T
G
C
T
G
A
G
C
G
T
C
T
G
T
G
G
G
T
G
G
A
G
5600
N I T A N L T S S L L S V C G W S 158
C
C
A
G
A
C
C
A
T
C
A
A
C
C
C
T
G
A
G
G
A
C
G
A
C
A
C
G
G
A
T
C
C
T
G
G
C
C
A
T
G
C
T
G
A
C
C
T
G
G
5650
Q T I N P E D D T D P G H A D L 174
T
C
C
T
C
T
A
T
A
T
C
A
C
T
A
G
GTAG CCGAGCTTTC TGATGGGTGC TGGCCAGCCA
5700
V L Y I T R 180
GCCTGGGAAG GCTGCTCCCT CAGCCTCCTG CCCTCTGCAA AGGTGACCCC
5750
AGGGCAGGCA CGTGCCTTG
G
CACCACCCAA GTGACTGTTT TCTCTCACCG
5800 |
var(5770):[A:0.01]
AG
G
T
T
T
G
A
C
C
T
G
G
A
G
T
T
G
C
C
T
G
A
T
G
G
T
A
A
C
C
G
G
C
A
G
G
T
G
C
G
G
G
G
C
G
T
C
A
C
5850 | Exon 6 |
var(5845):[T:0.01]
F D L E L P D G N R Q V R G V T 196
C
C
A
G
C
T
G
G
G
C
G
G
T
G
C
C
T
G
C
T
C
C
C
C
A
A
C
C
T
G
G
A
G
C
T
G
C
C
T
C
A
T
T
A
C
C
G
A
G
G
5900
Q L G G A C S P T W S C L I T E 212
A
C
A
C
T
G
G
C
T
T
C
G
A
C
C
T
G
G
G
A
G
T
C
A
C
C
A
T
T
G
C
C
C
A
T
G
A
G
A
T
T
G
G
G
C
A
C
A
G
G
5950
D T G F D L G V T I A H E I G H S 229
TA
T
GTAGCCC CACCAGCTGT CCCCAGGATC TGGCAAGGAG CTGACCTGGG
6000 |
var(5953):[G:0.01]
TACCCAGGGT GGAGGTGGTC TT
G
GCAAGCA GTGGGTCCTT GTAGAGTTTC
6050 |
var(6023):[A:0.02]
TCCAGAGGAG CCTGTACCCC TCACCCC
G
AC AGACTCAGGT GTGAGGACAG
6100 |
var(6078):[A:0.20]
GGGA
A
CCTGA TACTGTTTGA TTAAAAGAAC
T
T
T
T
T
T
T
C
C
A
A
A
A
G
A
C
G
A
G
C
6150 |
var(6105):[T:0.18]
|
REPEAT
A
A
G
A
C
A
C
C
T
T
T
A
G
C
A
G
G
T
A
G
A
A
A
A
T
A
A
C
T
T
C
T
G
T
A
G
A
A
A
A
T
T
C
A
G
G
T
A
A
A
6200
G
A
A
A
G
A
G
C
A
G
G
C
T
G
T
A
A
A
A
A
T
T
A
T
C
T
C
A
A
A
T
C
C
C
A
C
C
A
T
T
T
A
G
A
G
A
T
A
A
T
6250
G
T
C
T
C
T
T
C
A
C
A
T
T
T
T
G
T
A
T
T
T
A
A
T
T
T
C
A
G
T
C
T
T
T
T
C
T
T
T
A
C
A
T
A
C
A
C
A
C
A
6300
C
A
T
A
T
T
T
C
T
T
A
T
T
T
G
C
A
A
A
A
T
T
G
G
G
A
T
T
T
A
G
T
T
T
G
G
A
T
C
C
C
T
G
A
A
A
A
A
A
A
6350
G
G
A
A
A
A
T
T
G
T
G
A
T
T
A
T
G
C
T
G
T
G
C
A
T
T
G
C
T
T
T
G
T
T
A
C
C
T
G
C
T
A
T
T
T
C
T
T
T
T
6400 |
REPEAT
T
C
T
T
T
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
A
A
G
T
T
T
C
G
C
T
C
T
T
G
T
T
G
C
C
C
6450 |
var(6413):[:0.23]
A
G
G
C
T
G
G
A
G
G
G
C
A
A
T
G
A
C
G
T
G
A
T
C
T
C
A
G
C
T
C
A
T
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
6500
G
G
G
T
G
C
A
A
G
T
G
A
T
T
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
6550 |
var(6505):[T:0.19]
G
C
A
T
G
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
6600
T
T
C
T
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
C
A
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
6650
C
C
T
G
C
C
T
C
G
G
T
C
T
C
C
C
A
C
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
A
T
6700 |
var(6659):[A:0.01]
C
C
A
G
C
C
T
T
T
C
T
T
T
T
T
T
C
T
T
C
C
T
A
G
G
G
T
A
A
G
T
G
C
A
G
G
A
T
T
T
A
C
C
T
G
T
T
C
T
T
6750 |
REPEAT
T
A
T
G
T
A
A
T
A
A
T
A
T
A
T
C
C
C
A
A
A
C
A
T
T
A
T
C
C
C
A
G
G
T
A
T
C
T
T
A
G
A
G
G
T
G
T
G
C
A
6800
C
C
G
T
A
A
T
T
T
A
T
T
T
A
A
T
C
A
G
T
C
C
C
C
T
C
T
T
C
T
T
G
G
A
T
G
T
C
T
A
G
G
T
T
G
T
C
T
G
A
6850
A
C
A
C
G
T
C
T
T
C
C
T
G
T
T
G
T
G
A
A
T
G
T
T
A
T
G
C
A
T
T
C
T
T
G
T
G
G
G
C
A
A
A
C
C
T
T
C
A
C
6900
T
C
T
T
A
C
C
T
A
T
A
A
C
C
A
T
T
T
A
C
C
T
A
G
A
G
T
G
A
T
G
G
G
T
T
T
C
T
TT TCATTTCTTT
6950 |
var(6926):[A:0.03]
AGTTTTTTAA GTATGAAAAT AATACCCAAT TGTTGTAAAA ATTCAAACAG
7000
TGCAGAGATT TCTAAAGTAA AAAGTGAATT TCCACATTCC TTGCCCACCA
7050
ACCCCCACCC GACCCCTTTC AACCCCTCTG AGCCTGGGAG GGTTGAGGCA
7100
GGGTTCCTGG GTGTGGGACA AGGCAGGGCT CCTTCTCCCT CAGAGGGAGC
7150
ATAGTTCCCT TCTGCTCCTG
T
G
A
T
G
C
A
G
A
A
G
A
C
G
T
G
A
G
C
C
C
C
C
A
A
A
C
T
G
G
7200 |
REPEAT
G
G
C
T
T
A
G
C
C
T
G
G
G
A
G
G
G
T
T
C
T
T
G
G
C
T
T
C
A
C
C
G
A
G
G
A
A
A
G
A
A
T
T
C
A
A
G
A
G
G
7250 |
var(7214):[G:0.16]
G
A
G
C
A
G
G
T
G
G
T
G
T
T
A
G
A
C
A
G
C
A
A
C
T
T
T
G
A
T
T
G
A
T
G
T
G
G
C
A
G
T
G
G
G
C
A
G
A
G
7300
T
G
T
A
C
A
G
C
C
C
T
G
T
G
A
C
T
G
T
A
T
A
C
A
G
C
A
C
A
G
C
A
T
A
G
C
C
C
C
T
T
T
T
G
A
A
G
C
C
A
7350
G
G
C
T
A
C
C
C
C
A
T
A
G
A
C
A
C
T
G
T
G
C
C
C
A
A
A
A
G
A
G
C
A
G
C
T
C
A
A
A
G
G
C
A
G
G
G
C
T
G
7400
C
A
G
T
C
C
T
A
G
T
T
A
A
T
A
C
C
C
A
C
T
T
C
T
A
A
T
T
A
T
A
T
G
C
A
A
A
T
T
A
A
G
G
G
G
C
C
A
G
A
7450 |
var(7412):[:0.47]
T
T
A
T
G
C
A
G
A
A
A
T
T
T
C
T
A
G
A
A
A
A
A
G
G
G
C
A
G
T
A
A
C
T
T
C
T
A
G
G
T
T
T
T
C
G
T
C
A
T
7500 |
var(7452):[G:0.01]
G
G
A
A
A
A
G
G
G
G
C
A
G
T
A
A
C
T
T
C
T
G
G
G
T
T
T
T
G
C
C
A
T
G
G
C
A
A
T
G
G
C
A
A
A
C
T
G
G
T
7550 |
var(7550):[C:0.23]
A
T
G
G
C
A
C
A
C
T
G
G
T
G
G
G
C
G
T
G
T
C
T
T
A
T
G
G
A
A
A
G
G
G
G
C
T
T
C
C
C
A
C
C
C
C
T
C
C
C
7600
T
G
T
T
T
T
A
G
C
T
A
G
T
C
C
T
C
T
G
G
T
C
C
A
G
T
G
T
C
C
A
A
G
C
G
G
G
G
C
C
T
C
C
A
G
A
G
T
G
G
7650
A
G
T
C
C
A
C
C
T
C
C
T
A
C
C
T
C
A
CC GGTGCCTGGC CTCTCCCACC CCATTAGGAG
7700 |
var(7664):[T:0.01]
TCCTCCATCA GTTCCGCTTT GGGTAAAGCA AGCTCTGTTG TGACAGTTTG
7750
GAAACGGTTC ACCTTCCTGG CCTAGGAATG CAAACAATGG C
C
AAGGGCAA
7800 |
var(7792):[G:0.05]
GCACGTTTTA ACTGAACTTT AAAATCGTGC TTTCCTCACA GTAGGTGAAT
7850
TTCACG
C
TCA ACACATCCAT GTAAACAGTC CCCAGAGCAG CCCTTCAAGG
7900 |
var(7857):[G:0.01]
CCCCGGCCAG TCCCCACCTC CCCACAGACT CCTAACACCA TGATTTAATG
7950
TGGCTTGCAC ATTTTTAAAG GCTTTTGATA TTTATTAGCA AAAGATGCGA
8000
GAGCCACCCT GCTGGGCTAG CGCTCCCTTC TGGGGGAAAC TGAGGCAGGG
8050
CGCACGCGAC CCTCTCCACT GCGCCCAGTT AGCAGATGGC GGCGTCAGGG
8100
GTCGACCCGG GTCGGAAAAC TCGCTGGCGC TGCGGCACTA GGGCGCCGGG
8150
CCGCTGACTC GCCGA
C
CCCC CGTCCCGCCC CCACCCCCGC CCCCGCCCCT
8200 |
var(8166):[:0.98]
GCCGGCCGCC TTAGCGCAAC TCCCCGCCCC CCGACCAG
C
T
T
C
G
G
C
C
T
G
G
A
8250 | Exon 7
F G L E 233
G
C
A
C
G
A
C
G
G
C
G
C
G
C
C
C
G
G
C
A
G
C
G
G
C
T
G
C
G
G
C
C
C
C
A
G
C
G
G
A
C
A
C
G
T
G
A
T
G
G
8300
H D G A P G S G C G P S G H V M 249
C
T
T
C
G
G
A
C
G
G
C
G
C
C
G
C
G
C
C
C
C
G
C
G
C
C
G
G
C
C
T
C
G
C
C
T
G
G
T
C
C
C
C
C
T
G
C
A
G
C
8350
A S D G A A P R A G L A W S P C S 266
C
G
C
C
G
G
C
A
G
C
T
G
C
T
G
A
G
C
C
T
G
C
T
C
A
G
GTAG CGGCCGCCCC GTGGGAGGGG
8400
R R Q L L S L L S 275
CGCGCGAGCC TCCAGCCAGC CCGCTGGGCC GCCAGCGCCA CCTCTCTCTA
8450
CGTCCGTCCC CACTCCGCAT TCAGCCCTCC TTCCTGTCCC ACCCCTCCGT
8500
CCAACCCACC CCTCCGTCCA ACCCCGCGCC CACCGCTCCG TCCGTGGAGG
8550
GGCGGGCGCG CGAGCCTCCA GCCAGCCCGC TGGGCCGCCC GCGCCACCCC
8600
TCCCTACGTC CGTCCCCACC TCTCCCTACG TCCGTCCCCA CTCCGCATTC
8650
AGCCCTCCTT CCTGTCCTAC CTCTCCATCC TGACCCACT
C
C
T
C
C
G
T
C
C
A
A
8700 |
NOT SCANNED
C
C
C
C
G
C
G
C
C
C
A
C
A
G
C
T
C
C
G
T
C
C
C
A
T
C
C
C
G
C
T
G
C
G
C
C
C
A
C
T
C
C
T
G
C
G
C
C
C
A
8750
C
C
C
C
T
C
C
G
T
C
C
C
A
A
C
C
C
C
T
G
C
A
C
C
C
A
C
C
C
C
C
C
C
G
T
C
C
C
A
C
C
C
A
C
C
T
G
C
C
C
8800
C
A
C
C
C
C
C
T
G
C
A
C
C
T
C
C
C
C
C
C
G
T
G
C
T
G
T
C
C
C
A
C
T
C
T
G
C
G
G
C
C
A
C
C
C
T
T
C
T
G
8850
T
C
C
A
A
C
C
C
C
T
G
C
G
C
C
C
A
C
C
G
C
T
C
C
G
T
T
C
C
A
C
C
C
C
C
T
C
C
C
T
G
C
G
C
C
C
A
C
C
C
8900
C
T
G
C
G
T
C
C
T
C
C
C
T
C
G
C
C
C
C
C
T
T
G
C
G
C
C
C
A
C
A
C
T
T
T
C
G
T
T
C
C
A
G
C
C
A
A
T
C
T
8950
G
G
G
C
A
C
G
C
A
C
C
C
C
T
C
C
G
T
C
C
A
T
C
C
C
C
A
T
C
C
C
G
C
C
C
C
T
T
G
A
C
T
C
C
A
C
A
T
A
C
9000
A
C
T
C
C
C
T
G
G
T
T
C
T
C
T
C
C
C
A
C
T
T
G
C
C
T
A
C
A
C
C
C
A
C
C
C
C
T
G
C
A
T
C
C
T
A
C
C
C
T
9050
C
C
T
C
C
A
T
C
C
A
C
C
C
C
T
C
C
A
T
C
T
C
A
G
C
C
C
C
C
T
G
C
A
C
C
C
A
C
C
C
C
G
T
T
C
C
T
G
G
G
9100
C
C
C
A
C
C
C
T
G
T
T
C
C
T
G
C
A
C
C
C
A
C
C
C
C
C
T
C
A
C
T
T
C
A
C
C
C
C
C
T
T
A
C
C
C
T
T
C
G
T
9150
C
T
G
C
C
T
C
C
A
C
C
C
G
C
C
C
C
T
A
C
C
C
C
T
C
C
G
T
C
C
A
C
T
C
T
C
C
A
C
G
C
T
C
C
A
T
C
A
G
T
9200
C
C
C
A
C
A
C
CCC TATCTCCCCC ACCCGCGTAC ATGTATCCCT GCGTCCCCTT
9250
CCCGCCGACC GCACCGCTCC CGGGCCTAAC CTGCATCTGC TCCATCCCAC
9300
TCAGACCCGT CCCTCCGTCG CCGCTCCCTC TGCTGGCCAC CCACCTCTGC
9350
GCCGGCAGGA GCCTTAGTCT TGG
T
CCCAGC CAAGAGCCGG CTCCTGGTGG
9400 |
var(9374):[C:0.07]
GGGGCGCGGG CCGAGAACTC CTGTTCCCAC TCACAAAAGG CCACGCTTCC
9450
AAACGCTTCC ATCCTCGTGC CCACTCCTCC GTCCCGCCTC CTCCCGGTGT
9500
ACACCCCGGG ACTGAGCCGG GCCTGAGCCG GGCCTTGTCG CAG
C
G
C
A
G
G
A
9550 | Exon 8
A G 277
C
G
G
G
C
G
C
G
C
T
G
C
G
T
G
T
G
G
G
A
C
C
C
G
C
C
G
C
G
G
C
C
T
C
A
A
C
C
C
G
G
G
T
C
C
G
C
G
G
G
9600
R A R C V W D P P R P Q P G S A G 294
G
C
A
C
C
C
G
C
C
G
G
A
T
G
C
G
C
A
G
C
C
T
G
G
C
C
T
C
T
A
C
T
A
C
A
G
C
G
C
C
A
A
C
G
A
G
C
A
G
T
9650
H P P D A Q P G L Y Y S A N E Q 310
G
C
C
G
C
G
T
G
G
C
C
T
T
C
G
G
C
C
C
C
A
A
G
G
C
T
G
T
C
G
C
C
T
G
C
A
C
C
T
T
C
G
C
C
A
G
G
G
A
G
9700 |
var(9655):[T:0.02]
C R V A F G P K A V A C T F A R E 327
C
A
C
C
T
G
GTGA GTCTGC
C
GGC GGTGGCCTGG GATTGGCTGT GAGGTCCCTC
9750 |
var(9717):[T:0.04]
H L 329
CGCATCACCC AGCTCACGTC CCCC
C
AAACG TGCATGGTGA GAACCTGCTG
9800 |
var(9775):[G:0.01]
GGTGCCGTGC TAGGCTGAGG TACTAAGCCA GGGCG
G
C
T
T
A
G
T
T
T
A
A
T
G
C
T
9850 |
REPEAT
G
T
C
T
G
T
G
C
C
C
T
C
T
A
G
A
A
A
T
T
A
T
T
T
A
A
A
A
T
G
T
T
T
G
A
A
C
A
A
A
A
G
C
T
C
C
A
A
C
A
9900
T
T
T
T
T
G
T
T
T
G
A
C
T
G
G
G
C
C
C
C
A
C
A
A
A
T
T
A
T
G
T
A
G
C
T
A
G
T
C
C
T
G
G
GAGGGCC
9950 |
var(9943):[C:0.02]
CCTGTGCCCA AGGACTCCTG GCTGAGTGAG GACACCAATC TTAAACAGTT
10000
ACCAAGGACT TCCC
C
A
T
C
T
A
T
T
G
T
G
G
C
T
G
G
A
G
T
C
A
G
A
C
T
G
G
A
G
G
G
C
T
T
C
C
10050 |
REPEAT
|
var(10019):[G:0.03]
T
G
G
A
G
G
A
A
G
T
G
G
C
C
T
C
T
A
A
A
C
T
G
A
A
C
C
C
A
C
A
G
C
A
G
A
A
G
T
G
G
G
G
C
T
G
G
T
A
G
10100 |
NOT SCANNED
G
G
G
G
A
G
G
G
G
A
G
A
T
G
A
A
G
G
A
G
A
G
C
A
G
G
C
A
C
C
C
C
A
A
A
A
G
A
C
A
G
A
C
T
T
C
C
T
C
G
10150
C
A
G
G
A
T
T
G
C
A
T
A
G
G
A
C
A
T
T
C
A
T
G
G
G
C
T
C
C
A
G
G
C
A
C
T
T
T
T
G
C
C
T
T
G
A
T
G
G
G
10200 |
REPEAT
C
C
C
C
T
T
C
C
T
C
C
A
C
A
A
A
A
A
A
A
T
T
G
A
G
A
A
T
T
A
T
G
T
T
T
T
A
A
T
A
T
T
C
T
T
A
T
A
C
A
10250
A
T
G
T
A
T
A
A
A
G
T
T
T
T
A
T
G
T
G
T
T
A
C
T
A
T
A
A
A
T
A
C
A
A
G
T
C
T
T
T
T
T
T
T
T
T
C
C
T
T
10300 |
REPEAT
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
C
C
T
C
T
C
T
G
C
T
C
A
C
T
G
C
A
G
G
C
T
C
10350
C
G
C
C
T
G
C
C
A
G
A
T
T
C
A
C
A
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
10400
G
A
C
T
A
C
A
G
G
C
G
C
C
C
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
10450
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
T
G
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
C
10500
G
T
G
A
T
C
C
G
C
C
C
G
C
C
C
T
G
G
C
C
T
C
A
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
10550
C
A
C
A
G
C
G
C
C
C
C
G
C
C
A
A
G
T
C
T
T
T
T
T
T
T
T
T
A
A
A
T
T
A
T
T
T
T
G
A
G
A
C
A
G
G
G
C
C
T
10600 |
REPEAT
C
G
T
T
C
T
G
T
T
G
C
C
C
A
G
G
G
T
G
G
A
G
T
G
C
A
G
T
A
G
C
A
C
A
A
T
C
A
T
A
G
C
T
C
A
C
T
G
T
T
10650
G
C
C
T
C
A
A
C
T
T
C
T
T
G
G
G
C
A
C
A
A
A
C
G
A
T
C
C
T
C
C
C
A
C
C
T
C
G
G
C
C
T
T
G
G
A
G
T
A
G
10700
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
A
T
G
C
C
A
C
A
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
T
T
T
10750
G
T
A
G
A
G
A
T
G
G
G
G
T
C
T
C
C
C
T
T
T
G
T
T
A
C
C
C
A
G
G
C
T
T
G
T
C
T
A
G
G
A
C
T
C
C
T
G
G
C
10800
T
T
C
A
A
G
C
C
A
T
C
C
T
C
C
C
A
C
C
T
C
G
G
C
G
T
C
C
C
A
A
A
G
C
A
C
T
G
G
G
A
T
T
A
C
A
G
A
C
A
10850
T
G
A
G
C
C
A
C
C
A
C
C
C
A
C
G
C
C
T
G
A
T
C
A
G
C
A
A
A
T
C
T
A
T
T
A
A
T
A
T
T
A
T
A
T
A
T
T
A
C
10900 |
REPEAT
A
A
C
A
T
T
A
A
T
T
T
T
G
A
C
C
T
G
G
A
A
G
T
T
C
A
T
T
T
T
T
T
C
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
10950 |
REPEAT
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
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
G
T
C
T
11000
T
G
G
C
T
T
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
C
C
G
G
G
C
C
T
A
C
11050
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
A
T
G
T
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
G
11100
T
T
T
T
G
T
A
T
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
T
C
A
T
G
T
T
G
G
C
C
G
G
G
C
T
G
G
T
11150
C
T
C
G
A
A
T
T
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
11200
G
G
G
A
T
T
A
C
A
G
G
A
T
A
A
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
C
T
A
G
T
T
C
A
T
T
T
T
T
T
T
C
T
T
C
T
11250 |
REPEAT
G
A
T
T
T
T
A
T
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
11300 |
REPEAT
C
C
C
A
G
G
C
T
G
G
A
A
T
G
C
A
G
T
G
G
C
T
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
T
G
C
C
T
11350
T
C
A
G
G
G
T
T
C
A
A
G
C
C
A
T
T
C
T
C
C
T
G
C
A
T
C
A
G
C
C
T
C
C
C
G
A
A
T
A
G
C
T
G
G
G
A
C
T
A
11400
C
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
C
A
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
T
A
G
A
G
A
T
11450
G
G
G
G
T
T
T
C
A
C
T
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
C
T
C
T
C
C
T
G
A
C
C
T
C
A
T
G
A
T
11500
T
T
G
C
C
C
G
C
C
T
C
G
G
C
C
T
T
C
C
A
A
A
T
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
A
G
11550
T
G
C
C
C
G
G
C
C
T
T
T
T
T
C
C
T
T
C
T
G
A
T
T
T
T
A
A
A
A
G
A
A
A
T
T
A
G
G
C
C
A
G
G
T
G
T
G
G
T
11600 |
REPEAT
|
REPEAT
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
A
G
C
C
A
A
G
G
C
A
G
G
C
G
G
A
T
C
A
11650
C
C
T
G
A
G
G
T
C
G
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
A
T
G
G
A
G
A
A
A
T
G
C
C
A
T
11700
C
T
G
T
G
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
A
11750
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
T
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
11800
G
C
A
G
A
G
G
T
T
G
A
G
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
G
C
C
A
T
T
G
C
C
C
T
C
C
A
G
C
C
T
G
G
G
C
A
11850
A
C
A
A
G
A
G
C
G
A
A
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
C
A
A
G
A
A
A
G
A
A
A
A
A
G
A
A
A
T
T
A
A
A
11900 |
REPEAT
A
C
A
T
T
T
GCCT CTTGAGCTTC AAGTCAGTGA CAAGTTAAGA AGGAAAAAAA
11950
GAAAAAAGAC ACAAAAAACA CATTTCCATG GGCCCCCAAA AGTGTGACAG
12000
GACCTGGTCA TGGTCCCGGT TCCCCATCGA TGGGTCAGTC ATGCCTTGTC
12050
CTCTGAGGGC ACCAGTGCCC ACGGTGCAGA GTGTTGGCTG TGTCAGTGTG
12100
TCCTGCAGTC TGGGAGGGAC AGTTAAGGTT GGACACTGGC CTGGAAGGCC
12150
CTGGTGGCCC CTGAGCTCGC CACCCACCTG TCCACCCTCC TAG
G
A
T
A
T
G
T
12200 | Exon 9
D M 331
G
C
C
A
G
G
C
C
C
T
C
T
C
C
T
G
C
C
A
C
A
C
A
G
A
C
C
C
G
C
T
G
G
A
C
C
A
A
A
G
C
A
G
C
T
G
C
A
G
C
12250
C Q A L S C H T D P L D Q S S C S 348
C
G
C
C
T
C
C
T
C
G
T
T
C
C
T
C
T
C
C
T
G
G
A
T
G
G
G
A
C
A
G
A
A
T
G
T
G
G
C
G
T
G
G
A
G
A
A
G
GT
12300
R L L V P L L D G T E C G V E K 364
CAGAGCCAAG AGTGAATGAG TGGGCTCCTG TGAGCACGTG CACGTGGGTG
12350
CCTCCAGCCA GGCC
G
CCCTA TTCCTAGGTC AGGAGGCAGG ACCAGTATGG
12400 |
var(12365):[A:0.01]
GGCAGAGAGT CTTGGAGTTG GCCTTGGGGA CTGTCCTTTG GGTTGGTGGT
12450
CTGACCTCTT TCCTTTAGCA TTTGCTCCCA TGCAGAATGG GAATGTGGGC
12500
TGCCTGTTGT ATGGGGGGTG CCCATGGGTG TGGGGTTCCT TTGGGTGGGG
12550
TCCCTGTGTG AAGGTCCTTG TGGATATGGG
G
TGTCTC
G
GG GGGGAT
C
CCT
12600 |
var(12581):[A:0.04]
|
var(12588):[:0.36]
|
var(12597):[A:0.01]
GTGTAAGGGG TCCCTGTGAG TGTAGAGTCC CTGTGGGTGG GGTCCTTATG
12650
TGTGTGTTGG AGGATCCCTG TGTGTTGAGG GGTCCCTGGG GGGTTCTGTG
12700
TGTATGTTGG GGGGTCTCTG GGTGTTGGAG GATCCCTGTG GGTCTGGGGG
12750
ATCCATGTGG CTGGGGTACC TGTGTGTTGG GGGGTCTCTG TGTGTGTTGG
12800
AGATCCCTGT GTGTTGGGGG ATCCCTATGG GTGAGTTCCT TGTGTGTGTT
12850
TGGGGGTCGC TGTGGGTGGG GTCCCTGTGT GTGTTGGGGA TCCCTGAGGA
12900
TGTTGGGGGA CTCTCTGTGT GTGTTGGGAG TCCTGTGGTG GGGTCACTGT
12950
GGGATGGGAG ATGAAGCCAT CCTTGCCTTG CAG
T
G
G
T
G
C
T
C
C
A
A
G
G
G
T
C
G
13000 | Exon 10
W C S K G R 370
C
T
G
C
C
G
C
T
C
C
C
T
G
G
T
G
G
A
G
C
T
G
A
C
C
C
C
C
A
T
A
G
C
A
G
C
A
G
T
G
C
A
T
G
G
G
C
G
C
T
13050
C R S L V E L T P I A A V H G R 386
G
G
T
C
T
A
G
C
T
G
G
G
G
T
C
C
C
C
G
A
A
G
T
C
C
T
T
G
C
T
C
C
C
G
C
T
C
C
T
G
C
G
G
A
G
G
A
G
G
T
13100
W S S W G P R S P C S R S C G G G 403
G
T
G
G
T
C
A
C
C
A
G
G
A
G
G
C
G
G
C
A
G
T
G
C
A
A
C
A
A
C
C
C
C
A
G
GTACC GCAGGGAGGG
13150
V V T R R R Q C N N P R 415
TGCTTTTCTG TCAGGGAGTG TGGCCATACC ATAGTCCCTA GTTGAAGGCA
13200
GTGGTCACCC TGCT
G
TCTCA CCCTCCTGTC TGCTGGGCAT TTT
C
AG
A
C
C
T
13250 |
var(13215):[C:0.38]
|
var(13244):[T:0.01]
| Exon 11
P 416
G
C
C
T
T
T
G
G
G
G
G
G
C
G
T
G
C
A
T
G
T
G
T
T
G
G
T
G
C
T
G
A
C
C
T
C
C
A
G
G
C
C
G
A
G
A
T
G
T
G
13300
A F G G R A C V G A D L Q A E M C 433
C
A
A
C
A
C
T
C
A
G
GTAGGCCTGC TTCCTGGGGT AGGAGGGGGC AGCTGGTGGC
13350
N T Q 436
ACCGGGCCCT GGGGGAGCCA AAGTGACCAT CTGTGGTTCA CACCAGGACA
13400
CATTTGAGAA GGACATTGG
G
G
C
C
A
G
G
T
G
A
G
G
T
G
G
C
T
T
A
T
G
C
C
T
G
T
A
A
T
C
C
13450 |
REPEAT
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
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
G
G
T
T
C
A
13500
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
T
C
T
C
G
T
C
T
C
T
A
C
A
G
A
A
A
A
T
A
C
A
A
A
13550
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
T
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
A
G
13600
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
C
A
G
G
A
G
G
T
A
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
13650
G
A
G
A
T
T
G
G
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
13700
C
A
A
A
A
A
A
A
A
A
A
T
A
A
A
A
A
T
T
A
A
A
A
A
A
G
A
G
A
G
A
G
A
A
G
G
A
C
A
T
T
G
G
G
A
C
C
C
C
A
13750 |
NOT SCANNED
G
T
T
C
A
T
A
A
A
C
C
A
G
G
C
C
A
G
T
C
C
T
G
C
T
G
A
T
G
C
C
C
A
C
A
G
A
G
C
C
C
C
T
G
A
A
G
C
G
T
13800
C
C
C
G
C
C
T
C
C
C
T
C
C
C
T
G
A
G
T
G
C
C
A
C
T
T
T
G
C
C
C
T
C
C
A
G
A
G
C
G
C
A
T
C
T
C
T
G
C
A
13850
G
G
G
A
G
A
A
C
C
T
C
C
C
C
A
C
T
A
G
G
A
A
T
A
C
A
G
T
G
C
G
C
T
G
C
T
G
C
A
T
G
C
C
T
G
C
A
A
A
G
13900
G
A
A
T
T
T
T
T
T
A
A
A
T
A
T
T
A
T
T
T
T
T
A
T
T
T
T
T
T
T
A
G
A
C
A
G
A
G
T
C
T
C
T
C
C
C
T
G
T
C
13950 |
REPEAT
A
C
C
C
A
G
A
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
T
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
14000
T
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
A
G
T
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
14050
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
C
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
T
A
G
A
G
G
14100
A
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
C
C
T
T
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
14150
T
C
C
G
C
C
T
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
C
A
C
T
G
C
G
C
14200
C
T
G
G
C
C
G
A
A
G
G
A
G
T
C
T
T
T
T
A
T
T
T
A
T
A
A
A
T
T
G
A
G
G
T
G
A
C
A
T
T
C
A
T
G
T
A
G
C
A
14250 |
REPEAT
T
G
A
A
A
T
C
A
A
G
C
A
T
T
T
T
A
A
A
G
T
G
G
C
A
A
C
T
C
A
G
T
G
G
C
C
T
T
T
A
G
T
A
C
A
C
T
C
A
C
14300
A
A
G
G
T
T
G
G
G
C
A
A
G
T
A
C
T
G
C
C
T
C
T
G
T
C
T
A
G
T
T
T
C
A
G
A
A
C
G
T
T
T
C
C
A
G
T
A
C
T
14350
C
T
G
G
A
G
T
A
C
T
C
T
G
G
A
G
T
G
A
A
C
C
C
C
A
T
A
T
G
G
T
A
G
G
C
T
G
T
C
A
C
T
C
C
C
C
A
T
T
T
14400
C
T
C
C
T
C
C
G
C
C
A
C
T
C
A
G
C
G
G
C
C
A
T
T
G
G
T
T
T
C
C
C
T
T
C
T
G
T
C
T
C
T
G
T
G
G
A
T
T
G
14450
A
C
C
T
G
T
T
C
T
A
G
A
C
A
T
G
C
C
A
C
G
T
A
C
C
T
G
A
G
G
C
C
A
G
A
C
A
A
C
A
G
G
T
G
T
G
C
T
T
C
14500
C
T
G
C
C
T
G
C
C
T
T
C
C
T
C
C
C
C
C
A
G
C
G
G
C
A
C
G
T
C
C
C
C
A
A
G
G
C
T
C
A
C
C
T
G
T
G
T
T
G
14550
T
A
G
C
C
T
G
T
G
T
C
A
G
C
G
C
C
T
C
A
T
T
C
C
T
C
T
T
T
C
T
G
G
C
T
G
A
A
T
C
A
T
A
T
T
C
C
A
C
T
14600
G
C
A
G
G
G
A
T
A
G
A
C
C
A
C
A
T
T
T
T
C
A
T
C
C
A
G
T
C
G
T
C
T
G
C
T
G
A
T
G
G
A
C
A
T
C
T
G
A
G
14650
G
T
G
T
T
T
T
C
A
C
C
T
T
T
T
G
G
C
T
C
C
T
G
T
G
A
A
C
A
G
A
G
C
C
G
C
T
G
C
C
A
A
T
G
T
G
C
T
T
G
14700
T
A
C
A
T
G
T
T
T
G
A
A
T
C
C
C
T
G
T
T
T
T
C
A
A
T
T
C
T
T
T
T
G
G
C
A
G
T
A
T
G
C
T
G
A
A
G
A
G
C
14750
G
G
A
G
T
T
A
C
T
G
G
A
T
C
G
T
A
T
G
G
G
A
A
T
T
G
T
A
T
G
T
T
T
G
A
C
T
T
T
T
T
T
T
T
T
T
C
T
T
T
14800 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
14850
G
G
T
G
C
A
A
T
C
T
C
A
G
C
T
C
C
C
T
G
C
A
A
C
C
T
T
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
14900
C
C
C
T
G
C
C
T
C
A
C
C
T
T
C
C
G
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
G
C
G
C
C
A
C
C
A
T
G
14950
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
A
G
T
T
T
C
C
A
C
C
A
C
G
T
C
A
15000
G
C
C
A
G
G
A
T
G
G
T
C
T
G
G
A
T
C
T
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
T
G
G
C
C
15050
T
C
C
C
A
A
A
C
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
C
T
C
C
C
G
G
C
C
T
A
T
G
T
T
15100 |
REPEAT
T
G
A
C
T
T
T
T
T
T
T
T
T
T
T
C
T
T
A
T
T
T
T
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
A
T
T
T
T
T
T
T
T
T
T
T
15150 |
REPEAT
T
T
A
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
A
G
C
T
G
G
A
G
T
G
C
G
G
T
G
G
C
G
C
G
A
15200
T
C
T
C
G
G
C
T
C
A
C
T
C
T
A
A
G
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
C
C
C
C
A
T
T
C
T
C
C
T
G
C
C
15250
T
C
A
G
C
T
T
C
C
C
G
A
A
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
A
C
G
C
C
C
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
15300
A
A
T
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
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
G
G
15350
G
A
T
G
G
T
C
T
T
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
15400
G
G
G
C
T
G
A
G
A
T
C
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
A
G
C
A
T
G
T
T
T
G
G
C
T
T
T
T
A
15450 |
REPEAT
A
A
G
A
A
A
C
T
G
C
C
A
A
A
C
C
G
T
T
T
T
C
C
A
C
A
G
T
G
C
C
T
G
A
A
C
T
G
T
T
T
C
A
C
A
T
T
C
C
C
15500
A
C
C
A
G
C
A
T
T
G
C
G
C
C
A
G
G
G
T
T
C
C
A
G
T
T
T
C
C
C
C
A
C
A
T
C
C
G
C
T
G
C
A
G
C
A
C
T
T
G
15550
C
T
G
T
T
T
T
C
T
G
T
T
G
T
T
G
T
T
T
T
T
T
C
T
T
T
T
C
T
C
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
15600 |
REPEAT
T
T
T
A
A
T
A
G
A
G
A
T
G
G
G
G
T
T
T
T
G
T
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
15650
G
A
C
C
C
C
A
G
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
T
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
C
15700
G
T
G
T
G
A
G
C
C
A
T
G
G
C
G
C
C
C
G
G
C
C
T
G
T
T
T
T
C
T
G
T
T
T
T
T
T
G
A
T
T
T
T
G
G
C
C
A
T
C
15750
T
C
G
G
T
G
G
T
A
T
G
A
A
A
T
G
G
T
A
G
A
A
A
G
A
T
T
C
T
T
T
T
T
A
C
A
T
T
G
A
G
T
T
A
A
A
T
T
C
T
15800
A
T
C
T
C
C
T
G
C
T
T
C
G
A
T
G
G
C
C
C
T
G
G
G
T
G
T
G
G
G
T
T
T
G
T
C
C
C
T
G
G
C
T
G
T
A
TTAC
15850
AGTTCTGCAT GTGGTGAGAC CCTCCCTTTC CTCCTTCTCC AAATGGACCA
15900
CCAAGACCTC CCCAGACCGT GAGGGGAGGG TCTTTGGCTG GAGCACAGGG
15950
TGGTGGGATT TCGTGGAGGC AGTGTGG
T
C
A
G
T
G
T
G
G
CTGT CCAGGGAGTC
16000 |
var(15978):[:0.19]
AACTCCGGTT ATCTTCTGTC AGCCCATAAA AGTCCAAGAC GCCTGCCTGA
16050
GTGCAGAGGC TTCGGTGGTG AGGTCTTTGC TCCATGCTTT GGTTACCTGC
16100
CTCTAGGTGC ACTACCTAAA GAATACACAT CCCCGTCCCT GTTTTATTGA
16150
GTTCAGGCCT TGGAAGCAGA GGCTCTGAGC GTAATGCTCT TTCCTGGCTT
16200
TCTTCTTCGT TGCTGCCCTG TGTTCTT
T
AC
G
GATTCCCCG GGGTTTTCCC
16250 |
var(16228):[C:0.03]
|
var(16231):[A:0.03]
ATCAATAGAG A
G
A
G
G
C
A
G
G
C
A
C
T
T
T
T
G
T
C
A
C
C
C
C
A
G
T
T
T
A
C
A
G
A
G
C
A
G
G
G
16300 |
REPEAT
A
A
C
C
G
A
G
G
C
A
C
G
G
CCTGGAG CTGAGGCCAC ACCCACATCT TGATCCTGTA
16350 |
var(16304):[T:0.02]
CTGTAGGGTG CCATGTAGTC TCCCAGTGAC AACACC
C
GCC CCCCGCCCCA
16400 |
var(16387):[T:0.01]
CCGCCATCCC CCTCCTCTGC CTCCTCCTGG CCAG
G
C
C
T
G
C
G
A
G
A
A
G
A
C
C
C
16450 | Exon 12
A C E K T 441
A
G
C
T
G
G
A
G
T
T
C
A
T
G
T
C
G
C
A
A
C
A
G
T
G
C
G
C
C
A
G
G
A
C
C
G
A
C
G
G
C
C
A
G
C
C
G
C
T
G
16500 |
var(16468):[G:0.19]
|
var(16494):[T:0.02]
|
var(16496):[T:0.01]
Q L E F M S Q Q C A R T D G Q P L 458
C
G
C
T
C
C
T
C
C
C
C
T
G
G
C
G
G
C
G
C
C
T
C
C
T
T
C
T
A
C
C
A
C
T
G
G
G
G
T
G
C
T
G
C
T
G
T
A
C
C
16550
R S S P G G A S F Y H W G A A V P 475
A
C
A
C
A
G
C
C
A
A
G
GTGGGGCCT GCGGAGTGTG GGGTTGGGGG AGGAGCCAGC
16600
H S Q 478
CCTGGAGACC CTCGGACAGG GCAGAGTCAT AGGGGGGTTG GCCTACTATC
16650
CCTCCAGCAC TGGGCAAAGT GGTTCAGGCT CTGGCATCCC ACA
G
ACCATG
16700 |
var(16694):[A:0.01]
GATGACATAG TGGCCAGGCC TCGCTGGTAG ATCAGGCACT G
A
C
A
T
C
C
C
A
T
16750 |
REPEAT
C
T
C
T
G
A
G
T
C
T
C
A
A
T
T
T
C
C
C
A
T
C
T
G
T
G
A
A
A
T
G
G
A
G
A
T
A
A
T
A
G
C
A
G
T
A
G
G
T
C
16800
C
C
T
C
C
C
T
G
G
G
C
G
C
T
A
C
A
A
G
G
A
T
T
C
A
G
G
G
A
G
A
T
A
A
T
C
G
G
A
A
A
A
T
G
C
C
A
A
G
T
16850
G
T
G
T
T
C
C
T
T
G
G
T
T
C
A
T
G
A
T
A
C
T
T
T
T
T
T
T
G
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
16900 |
REPEAT
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
G
G
G
C
G
T
A
A
T
C
T
C
A
G
C
T
C
A
C
T
G
T
A
A
C
C
T
C
C
G
C
16950 |
var(16920):[T:0.19]
|
var(16936):[T:0.16]
C
T
C
T
G
G
G
A
T
T
C
A
A
G
G
G
A
T
T
C
T
T
G
C
C
C
C
T
C
A
G
C
C
T
C
T
C
G
A
A
T
A
G
C
T
G
G
G
A
C
17000
T
A
C
A
G
G
C
T
T
G
C
A
C
T
A
C
C
A
T
G
C
C
G
G
C
T
A
A
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
17050
A
T
G
G
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
G
C
T
A
G
G
C
T
G
G
T
T
T
C
A
A
A
C
T
C
C
T
G
A
C
G
T
C
A
G
G
17100 |
var(17083):[T:0.07]
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
G
G
C
T
T
C
C
C
A
A
A
G
T
T
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
A
C
C
17150
A
T
T
G
C
G
C
C
C
A
G
C
C
TTGGT
T
C CTAATTCAAT ACCATTAATT ATTAGATTAG
17200 |
var(17169):[C:0.19]
ATTAGGATCG TGATTAGGAT TATTGCCTTA GGAGGTGGGA TGTGGGG
A
AG
17250 |
var(17248):[G:0.01]
ATAGAAACCC TTGCCCCAGA TGCAAAGGAT GAAGCTGGGT GGGGGCTGGG
17300
GGACTTGCCC CTCCTGCTCG GTTCAGGACA CCCTTTTTCA CTCTGCCCTC
17350
CCAG
G
G
G
A
T
G
C
T
C
T
G
T
G
C
A
G
A
C
A
C
A
T
G
T
G
C
C
G
G
G
C
C
A
T
T
G
G
C
G
A
G
A
G
C
T
T
17400 | Exon 13
G D A L C R H M C R A I G E S F 494
C
A
T
C
A
T
G
A
A
G
C
G
T
G
G
A
G
A
C
A
G
C
T
T
C
C
T
C
G
A
T
G
G
G
A
C
C
C
G
G
T
G
T
A
T
G
C
C
A
A
17450
I M K R G D S F L D G T R C M P 510
G
T
G
G
C
C
C
C
C
G
G
G
A
G
G
A
C
G
G
G
A
C
C
C
T
G
A
G
C
C
T
G
T
G
T
G
T
G
T
C
G
G
G
C
A
G
C
T
G
C
17500
S G P R E D G T L S L C V S G S C 527
A
G
G
GTAGGCG TGTGTGGACA TTGGCGATGG CCCTGGGGCC TACCTGTCCT
17550
R 528
ATCGGAAGGC TCCTGGGGGC AGGTTGGTGG GTGCTGGCCC TGATGGAGCT
17600
GCAGTGCC
C
T CTGCAGGG
G
A
G
T
G
G
T
G
C
T
G
G
G
G
A
A
A
A
G
G
A
T
C
T
G
G
A
C
T
T
G
G
17650 |
var(17609):[G:0.19]
|
REPEAT
A
G
T
C
A
G
C
C
T
G
G
G
T
T
A
A
G
G
G
C
T
G
C
A
G
T
G
T
G
A
C
C
T
T
G
G
G
C
A
A
G
T
C
A
C
T
G
A
G
C
17700 |
var(17672):[A:0.01]
C
C
T
C
T
A
A
G
C
T
T
G
C
T
T
C
C
T
G
T
G
T
A
G
A
T
G
G
T
G
G
G
G
T
GCTA
T
A GAAGTGTTGC
17750 |
var(17739):[C:0.19]
TGGTTTTGT
G
G
A
T
C
C
C
A
G
A
A
T
C
T
C
A
G
A
G
C
T
G
G
C
A
G
G
G
C
T
G
C
A
G
A
G
T
C
A
T
T
17800 |
REPEAT
G
A
G
G
C
C
A
G
C
A
C
C
C
T
C
CAGTG ACACGGGCCC TCTGTCCTTC CCTTTGCATA
17850
G
A
C
A
T
T
T
G
G
C
T
G
T
G
A
T
G
G
T
A
G
G
A
T
G
G
A
C
T
C
C
C
A
G
C
A
G
G
T
A
T
G
G
G
A
C
A
G
G
T
17900 | Exon 14
T F G C D G R M D S Q Q V W D R 544
G
C
C
A
G
G
T
G
T
G
T
G
G
T
G
G
G
G
A
C
A
A
C
A
G
C
A
C
G
T
G
C
A
G
C
C
C
A
C
G
G
A
A
G
G
G
C
T
C
T
17950
C Q V C G G D N S T C S P R K G S 561
T
T
C
A
C
A
G
C
T
G
G
C
A
G
A
G
C
G
A
G
A
G
GTAGGCGG CCTCCCTCGG GGCAGAGGCT
18000
F T A G R A R 568
GGGCTTCCCC CAGCCTCCAA GATGGCCACA GCCCAGAGCG TTGGTGCAGG
18050
GGCTGCTCAG GTCACAGGGC CTGCACACTC ACTCAGCCCT GGATGCCTCC
18100
TGTGGTGTCA GCGTCTCCCT CTTCCACTTC
G
CCACCCTTC TGTGGCAGG
C
18150 |
var(18131):[A:0.02]
|
var(18150):[T:0.01]
TCAGGTTTTG GCCTTGATGC TGCTGGGACT GTGGTGCCTC AGTAATGGTC
18200
ACTCACTGTA GCCGTGCTGC AAAAAAAACA CAGACATT
G
G
C
C
G
G
G
C
G
C
T
G
18250 |
REPEAT
T
G
C
T
C
A
C
G
C
C
T
G
T
A
C
T
C
C
C
G
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
18300 |
var(18270):[A:0.05]
C
C
T
G
T
A
G
T
C
G
G
G
A
G
A
T
C
A
C
C
T
A
C
A
G
C
C
T
G
G
C
C
A
G
T
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
18350
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
T
G
G
G
C
A
T
G
A
T
G
G
C
G
G
G
C
G
C
C
T
G
T
A
G
18400 |
var(18374):[C:0.18]
T
C
C
T
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
C
C
C
A
G
G
A
G
G
18450
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
C
C
T
C
T
G
C
A
C
T
C
C
A
G
C
C
C
G
G
G
C
A
A
C
A
G
18500 |
var(18479):[C:0.01]
A
G
T
G
A
G
A
C
A
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
GTATG GACGTTGTGC
18550
ATTCTGTGGC AGCTACCCTC TTCTCTCCTG CTCAAGAAAT CCCACTGAGA
18600
GGGACACAAG TGAATGAGAG GG
A
TGGTAGT TACATTTGGA AAATCTTTGA
18650 |
var(18623):[T:0.43]
CTTTGGTGTA TATATGAGGT CAAAAACCAT TTGCAAATGC CAGTGCTTCT
18700
ATGGAGAGCA GAGACTT
G
AG CCCTGCCTCC CTCTGGCTTG CCCCACTGT
G
18750 |
var(18718):[C:0.16]
|
REPEAT
C
T
G
G
A
G
A
A
C
C
T
T
G
G
A
C
C
C
G
G
T
C
C
C
T
T
C
T
C
C
C
A
G
C
C
A
G
G
G
C
A
G
A
G
C
C
T
T
G
G
18800
C
A
G
G
T
G
G
T
C
C
T
C
C
A
G
C
C
T
G
C
T
T
T
T
A
A
T
T
G
C
C
C
C
C
A
T
G
A
C
A
G
G
G
G
A
C
T
C
A
C
18850
T
G
C
T
G
C
T
G
G
A
G
C
C
A
G
C
C
C
C
A
T
G
G
C
A
T
T
G
T
T
CAATTTTTCC CGACCAGCTA
18900
AGATCAGCTC CCTTTGTCTG TGGTGTGGTG GCTGTGAGGT CCACGCATCT
18950
CTCCTTCTTT TCTTCTTTCT AG
A
A
T
A
T
G
T
C
A
C
A
T
T
T
C
T
G
A
C
A
G
T
T
A
C
C
C
C
19000 | Exon 15 |
var(18983):[G:0.39]
E Y V T F L T V T P 578
C
A
A
C
C
T
G
A
C
C
A
G
T
G
T
C
T
A
C
A
T
T
G
C
C
A
A
C
C
A
C
A
G
G
C
C
T
C
T
C
T
T
C
A
C
A
C
A
C
T
19050
N L T S V Y I A N H R P L F T H 594
T
G
G
GTGAGTT GACTGGAG
G
A CTCCCACCCA GTTAGCTAGA CTGCAAAGGT
19100 |
var(19069):[A:0.03]
L 595
GCAGAGCACT GTTGCCAAGA TGCCCTCACT TCTGACATCA CCCGCAAGTT
19150
CA
G
G
G
G
G
T
T
C
C
C
C
A
A
A
C
C
A
C
C
C
T
C
A
G
G
C
T
T
G
A
T
A
G
T
T
G
A
C
T
A
G
G
A
A
G
A
C
T
19200 |
REPEAT
C
C
C
A
G
A
G
C
T
C
A
C
T
G
A
G
A
G
C
T
G
T
G
G
C
A
C
A
T
G
G
C
T
G
C
G
G
C
T
C
C
T
T
C
C
A
G
A
A
G
19250 |
var(19214):[C:0.18]
A
A
C
A
C
A
G
G
T
T
A
G
A
A
T
T
G
T
C
C
A
A
G
G
G
A
A
G
A
G
A
T
G
T
A
G
G
C
A
G
A
G
T
C
T
G
G
G
A
G
19300
G
G
T
C
C
A
A
C
C
A
G
G
A
G
G
C
C
T
G
A
T
G
T
C
T
C
A
G
G
G
A
T
G
T
G
A
C
A
C
C
C
T
T
C
T
A
G
C
A
T
19350
T
G
G
A
G
C
G
T
G
G
C
C
A
T
A
C
G
C
A
T
G
G
A
G
T
A
T
T
G
C
C
C
A
C
A
C
A
G
A
A
A
G
C
C
C
A
C
T
G
A
19400 |
var(19351):[C:0.02]
G
T
G
G
G
A
G
T
T
G
A
G
A
G
T
T
T
T
T
C
C
T
G
G
G
G
T
T
T
G
A
G
T
G
C
A
A
A
G
A
C
A
T
G
A
T
T
G
A
C
19450
T
A
A
T
T
G
G
C
C
A
G
G
T
G
G
A
T
A
C
T
C
T
C
A
G
T
C
T
C
T
T
G
G
T
G
A
C
C
C
A
G
C
C
C
C
T
A
T
CC
19500 |
var(19498):[C:0.16]
TAAATCACAT AGTTGGTCTT TCTGGTACAG CCAGCCCCTG CCCTAAAGGA
19550
GGACACTTCT GCCTGGTGTG ACCCGTGTTT CCTCTTGGAA GCCAACAGCA
19600
AAAGCTGGAC TTCTCTTTGG GCAAGGCCCG CTTCTTTGCT ATTGAGGGCC
19650
ACAGTGGGTC TTTCTGGAGT GTGTCTGCAC CTAACCTTTG AAGCCTTGGT
19700
TGCCGGCACT TGCCATGGGG TCCCTGAG
C
C CTGAGCCTGT TGAGTTCTGT
19750 |
var(19729):[T:0.01]
GCGTGAGTGC
A
CTTGGTCAT AGCACTCACC AGGTTGTGGA AAGAGGCCTA
19800 |
var(19761):[G:0.18]
GAGCCTCCGC TGTGGGGAAG CCTCTAGCTC AGATGCCTGT GGCTCCTTAG
19850
AGGAGGGCTG GGGACCCCGG GAAGGAGAGT CACTGACATG TGCCTGTGAG
19900
GAGGATGGGT GCTCAGCTCC AC
A
C
G
GCTAA CAGGGCTGGT TCCCCGACAG
19950 |
var(19923):[G:0.01]
|
var(19925):[A:0.39]
595
C
G
G
T
G
A
G
G
A
T
C
G
G
A
G
G
G
C
G
C
T
A
T
G
T
C
G
T
G
G
C
T
G
G
G
A
A
G
A
T
G
A
G
C
A
T
C
T
C
C
20000 | Exon 16 |
var(19961):[T:0.02]
|
var(19994):[T:0.02]
A V R I G G R Y V V A G K M S I S 612
C
C
T
A
A
C
A
C
C
A
C
C
T
A
C
C
C
C
T
C
C
C
T
C
C
T
G
G
A
G
G
A
T
G
G
T
C
G
T
G
T
C
G
A
G
T
A
C
A
G
20050 |
var(20016):[G:0.01]
|
var(20038):[A:0.04]
P N T T Y P S L L E D G R V E Y R 629
A
G
T
G
G
C
C
C
T
C
A
C
C
G
A
G
G
A
C
C
G
G
C
T
G
C
C
C
C
G
C
C
T
G
G
A
G
G
A
G
A
T
C
C
G
C
A
T
C
T
20100
V A L T E D R L P R L E E I R I 645
G
G
G
G
A
C
C
C
C
T
C
C
A
G
G
A
A
G
A
T
G
C
T
G
A
C
A
T
C
C
A
G
GTCAGCAG GAGAGCCTGG
20150
W G P L Q E D A D I Q 656
GGGAGGCCAG TGGGGGCTTC TTCT
T
GGGGG CTATGGCTGC TTGCTCGTTT
20200 |
var(20175):[C:0.05]
GTCTATCCAT CCATTCCCTG ATT
C
GTTC
A
T
T
T
A
T
T
C
A
T
T
C
A
G
C
G
G
T
C
A
C
T
20250 |
var(20224):[G:0.05]
|
REPEAT
T
A
C
A
G
G
G
G
A
C
C
C
A
C
T
A
T
G
T
G
T
T
G
G
G
C
C
C
T
G
T
G
C
T
A
G
G
C
AA AATGTAGCTA
20300
GCTCCTCCAG GGGCTTAGGG TCCCACAAAT ATCCAAATGT G
C
CTGTGCCC
20350 |
var(20342):[T:0.06]
AGAGCCCGTG GGAGAAGGCC CTGCAGTTCT GGGATCAGGT AAGGTTGGAG
20400
GGCCCAATGC AGGGGTCCAG GGCTCCCTGG GAAAGAGTGA TGGAGCTGAG
20450
GTGTCAGATG AGCAGATGTT GCTGGGCCAA GCAGGGAAGG AAGCGTATGG
20500
CTGAGGGAAC AGTGTCAGTG TGGGAGGGAT GAAGGAAGGT CCTACTGTGT
20550
GGGTTTGTGG GGAGATGAAG GCATGGACGC AGGTGCAGTG GCATCTGGGG
20600
AGTAGGCCTT GGTGCTGAGG AAGCTGAGAA CAGATGCTGG CTCTCACTGC
20650
TTCTTTGGTG CAGTGTGTGT GGGAACCGGA AGGCCTTGTT CAGGCGTGTC
20700
CTCAGTGACG TGTGCTCGCC CATGTATGTC CCCATTGGTG CTTCGCTGAG
20750
GAAGGCACGT GGAGGGTGGA GAGACATAAG CGCAGGCTGA AACAGACCTG
20800
AGAACCTTGG GAGAGGG
G
CC CAGTCTCAGC GGCCGGAGCA GCGTCCTCTG
20850 |
var(20818):[T:0.01]
CCCCTACAGC AGCCAGAGAC AGGAGGGCCT CCCACAGATC AGGCCAGGCC
20900
GGGCCAAAGC AAGCCCCTGT GAGCGGCTTA TCCCTTCTCT TCCCCTGATA
20950
TGGTTCCCTT CCTCCCCTCC CCTTGCCTGG GACATTGTAT CCAGATGCTA
21000
GCTGCCGAGT GGCTCTCCCA TC
A
T
C
C
T
C
T
G
C
A
G
T
G
T
G
T
A
A
A
A
A
A
G
C
A
G
A
T
21050 |
REPEAT
|
REPEAT
T
C
C
C
G
G
G
T
C
C
T
C
T
G
C
A
T
A
T
T
C
C
C
T
G
A
A
T
C
A
G
G
A
C
T
T
C
C
C
T
G
T
G
T
T
G
G
G
C
C
21100
T
G
A
G
A
A
A
C
C
G
C
A
C
C
G
T
A
A
C
C
A
A
C
ACAGGCT TGCGGCACTG GCCAGATGTG
21150
GGCATCGAGG GGGCAGGTGC GGAATGTCAC CTCGCCCTGG GCTCTGGCCT
21200
C
CAGGCTGGC CTCTTTCTTG GGCTGGTCTT GGGCACAGGA CCCAGTT
A
AC
21250 |
var(21201):[T:0.06]
|
var(21248):[:0.97]
CCTCCTGAAG AGCCTTAGGC CCAGGAACCT GCTGAAGTTC TTCCTAGTGC
21300
TCTCCGGGCC AGTCCCAAGC CAGTAGCTGG CCACAGGTCC CCAGGGATCC
21350
AGTTTCTTCC TGCCGACCCT ACCACAGGTC CCCAGGGATC CAGTTTCTTC
21400
CTGCCGACCC TACGGGCCTC AGCTCTGGCT CCAGAAGCAC TTTCTGTGCT
21450
GGCCCTGCCC TAGCCCTTCT TGGGCTCCTT AGCCCAGCCT AAGGTGGGCC
21500
TGCC
T
CCTCC ACTGCACTTT ATCCTCTACC CAGCCAGCTT AGGGAACCTT
21550 |
var(21505):[:0.01]
CTCTGTGCTG CCCAAATACC CTATC
A
TGTA ACCCACCAAT GACTTGGTAA
21600 |
var(21576):[G:0.16]
TTACCTCCCC GAGCCCTCTA TCCCAACCCA CTGAGAGCTC CTTGCAGCTC
21650
AGCCAGTGTC CT
G
TGCACTG TGCTATCCCC AGAGCCTGGT ACAGGTCAGT
21700 |
var(21663):[A:0.01]
GTTGGTGATT GCTTCCCGTT ATTTTTG
T
C
T
T
T
G
T
T
G
T
T
T
T
T
T
T
A
G
A
G
A
G
G
21750 |
REPEAT
G
T
C
T
C
A
C
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
T
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
C
T
C
T
G
A
A
21800
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
G
C
T
C
C
C
A
A
A
G
T
T
T
T
G
G
G
T
21850 |
var(21834):[T:0.01]
T
T
A
C
A
G
G
C
A
T
G
A
G
C
T
A
C
C
G
T
G
C
C
T
G
G
C
C
AG TGATTGCTTG CTGA
A
CGAAA
21900 |
var(21895):[G:0.16]
GATTATAGGG ATGCAAGAAG AAGTTGGAAG GCTTCCCAGG GGAGGTGGCC
21950
ATGACAGTGA CCCTCAGGGA ACCCACTGGA CAAGGCCTGA AGCTCTTTGT
22000
CTGCAG
G
T
T
T
A
C
A
G
G
C
G
G
T
A
T
G
G
C
G
A
G
G
A
G
T
A
T
G
G
C
A
A
C
C
T
C
A
C
C
C
G
C
C
C
22050 | Exon 17
V Y R R Y G E E Y G N L T R P 671
A
G
A
C
A
T
C
A
C
C
T
T
C
A
C
C
T
A
C
T
T
C
C
A
G
C
C
T
A
A
G
C
C
A
C
G
G
C
A
G
G
C
C
T
G
G
G
T
G
T
22100
D I T F T Y F Q P K P R Q A W V 687
G
G
G
C
C
G
C
T
G
T
G
C
G
T
G
G
G
C
C
C
T
G
C
T
C
G
G
T
G
A
G
C
T
G
T
G
G
G
G
C
A
G
GTGAGACC
22150
W A A V R G P C S V S C G A 701
TGGGGAAGGC TCATCCACAG CACGGCTTGC CCCTGCAGGG AGGCGGCCTA
22200
GCCCTCCCTC TTCCCTCCCA G
G
G
C
T
G
C
G
C
T
G
G
G
T
A
A
A
C
T
A
C
A
G
C
T
G
C
C
T
G
22250 | Exon 18
G L R W V N Y S C L 711
G
A
C
C
A
G
G
C
C
A
G
G
A
A
G
G
A
G
T
T
G
G
T
G
G
A
G
A
C
T
G
T
C
C
A
G
T
G
C
C
A
A
G
G
G
A
G
C
C
A
22300
D Q A R K E L V E T V Q C Q G S Q 728
G
C
A
G
C
C
A
C
C
A
G
C
G
T
G
G
C
C
A
G
A
G
G
C
C
T
G
C
G
T
G
C
T
C
G
A
A
C
C
C
T
G
C
C
C
T
C
C
C
T
22350 |
var(22335):[A:0.02]
Q P P A W P E A C V L E P C P P 744
A
GTGAGTGTG GTGCTGTCTG CGCAGCTCCA AGGGGGAGAG AGGGTTCCGC
22400
Y 745
TGGGGCTGCT GGGCTCTGTC CCTGGCCTAT GGGGC
C
C
A
T
G
T
G
G
C
A
G
G
G
C
C
22450 |
REPEAT
G
G
G
C
T
G
A
G
C
T
G
C
T
C
C
T
G
T
G
C
A
G
G
C
T
C
T
C
A
T
T
A
C
C
C
C
T
G
C
C
C
A
C
A
G
C
C
C
T
G
22500
C
A
A
G
G
G
G
G
G
C
T
C
T
G
T
G
A
G
T
G
C
C
C
C
C
A
T
T
C
T
G
C
A
G
G
T
G
A
G
G
A
C
A
C
T
G
A
G
G
C
22550
T
T
G
G
G
G
C
A
G
A
C
A
T
G
G
T
G
A
C
A ATGTCAGCCC AGTGGGACCC ACACCTGCTG
22600
CCACCTTGTC TGGGCCACCG AGGCCTCTCT TGAGCTCAGG TACTCATGGT
22650
GAGATGGAGG TGATTGCCTA CCTGGAGGGT TGTAGGGAGA CTTGCGGAGC
22700
TCCTGGTGCA AAGCCCCTGG CTGTCACCAC ACCTGACGGG GCACACTGTT
22750
AGGGACGAGG CCATTCCTGC TGGGTGCAGG ACAGGGCAGC TGCTCACCAG
22800
CCTGTGATTC GGTTGTCCTC
A
GGCTCAGCC GTCTGGCAGC CTGGGAACAC
22850 |
var(22821):[G:0.04]
CTGGAGAGGC TAGGCTGGCC GTAGTGCCCA TTGCTTGTCC CAGACCGGGG
22900
GAGTACATCA GCACCTGCCA CCCCATCACC CCAGGCCAGC CTGGGACCTG
22950
GCCAGGGTCC CGACGCTCTG TCTCCTTCCT CAG
C
T
G
G
G
C
G
G
T
G
G
G
A
G
A
C
T
23000 | Exon 19
W A V G D 750
T
C
G
G
C
C
C
A
T
G
C
A
G
C
G
C
C
T
C
C
T
G
T
G
G
G
G
G
C
G
G
C
C
T
G
C
G
G
G
A
G
C
G
G
C
C
A
G
T
G
23050 |
var(23029):[T:0.37]
F G P C S A S C G G G L R E R P V 767
C
G
C
T
G
C
G
T
G
G
A
G
G
C
C
C
A
G
G
G
C
A
G
C
C
T
C
C
T
G
A
A
G
A
C
A
T
T
G
C
C
C
C
C
A
G
C
C
C
G
23100
R C V E A Q G S L L K T L P P A R 784
G
T
G
C
A
G
A
G
C
A
G
G
G
G
C
C
C
A
G
C
A
G
C
C
A
G
C
T
G
T
G
G
C
G
C
T
G
G
A
A
A
C
C
T
G
C
A
A
C
C
23150
C R A G A Q Q P A V A L E T C N 800
C
C
C
A
G
C
C
C
T
G
C
C
C
T
G
C
C
A
G
G TGAGCCCAGG GCTAGGTGGG GCTGGGAGAG
23200
P Q P C P A R 807
GGCCTTCCTG GCAGAGCTC
G
TCCCTG
C
GCT GAGCCCCCAT CCTTCTGAGA
23250 |
var(23220):[A:0.02]
|
var(23227):[T:0.02]
ATCCCCTCCT CCTGAGGCCT CCGGCGGGGC CT
C
ACCATCC AGGGTGATGG
23300 |
var(23283):[G:0.24]
GCAGTGTCAC CTGGCGGTTG TAAGTGCTGC TGTCAGAGTT C
C
T
T
A
C
T
A
C
C
23350 |
REPEAT
C
A
G
G
A
G
A
G
C
C
T
G
G
G
C
C
C
A
T
T
G
T
T
T
C
C
C
T
C
T
C
T
G
A
G
C
T
T
C
C
G
A
G
C
C
C
C
T
G
C
23400
T
C
T
G
A
A
A
T
G
G
G
G
A
T
GCCGAC CTGCCTGGGG AGGGGGGGCT TCGAGGATGA
23450
GGTCAAACTG AACGGAGTGG GAGATGTCAC TTTCTCATCA CCACCATCTC
23500
CCCCGTGCCC ACGTGGCTGC ATCTCAT
C
CC CTCAGTGTCC AAGTTGACAG
23550 |
var(23528):[G:0.01]
T
G
G
C
T
T
A
T
C
A
T
C
C
T
G
C
C
C
T
G
C
C
A
C
T
A
A
C
G
A
G
C
T
G
A
G
T
G
A
C
A
G
G
G
C
A
A
G
T
C
23600 |
REPEAT
C
C
C
T
C
C
T
C
T
G
T
G
G
G
C
T
T
C
A
G
T
T
T
T
G
C
G
A
C
C
T
G
T
C
C
G
G
T
G
G
G
A
G
G
G
G
A
T
T
G
23650 |
var(23636):[C:0.01]
G
T
C
T
G
G
A
T
T
G
T
T
G
G
T
G
G
C
C
C
A
C
T
C
A
T
A
G
C
T
C
T
G
GA
C
T
C
C
T
T
T
C
C
C
C
G
C
C
T
23700 |
REPEAT
C
G
T
C
A
T
C
C
G
T
G
G
C
A
G
A
C
A
A
A
A
C
A
G
T
C
A
C
C
A
C
T
C
T
T
C
C
C
C
G
C
T
G
A
G
G
C
C
A
G
23750
A
T
A
G
G
G
C
C
T
C
A
G
A
A
T
C
C
T
T
C
T
C
A
C
A
C
A
G
C
T
C
T
C
C
A
G
G
C
A
G
C
C
A
C
T
T
T
A
G
C
23800
G
C
A
G
G
G
C
T
G
A
C
T
C
A
C
A
G
C
T
G
A
A
A
C
C
C
A
T
T
G
G
C
C
A
C
C
C
T
T
G
AACCTGGTGA
23850
TCCAATTCCA TGTGGCACCT GTTTCTCTGC ACCTGCTATG GTGCATGGAG
23900
TCAGTGATTA CCTGGCTGGA GGTCGGCCTC TGCCTCTGGA GAGTAGGAGG
23950
G
ATGGG
T
T
C
T
C
T
T
T
T
T
T
T
T
T
T
T
T
A
T
T
A
A
A
A
G
A
C
A
G
A
G
T
C
T
T
G
T
T
C
T
C
T
C
A
24000 |
var(23951):[A:0.02]
|
REPEAT
C
C
C
A
G
G
C
T
G
G
T
A
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
T
G
C
C
24050
T
C
A
G
C
A
A
G
T
G
T
G
C
G
C
C
A
C
C
A
A
G
C
C
C
A
A
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
T
G
T
A
G
A
24100
A
A
C
A
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
C
A
A
C
T
C
C
C
G
G
G
C
T
C
A
A
24150
G
C
A
G
T
C
T
G
C
T
C
A
C
C
T
C
A
G
C
C
T
C
C
T
A
A
A
G
T
G
C
T
G
A
G
C
T
A
C
C
G
T
G
C
C
T
G
G
C
C
24200
AGGGATAGGT TCTGTCTCTG CACCCTGGGT GCAGGTGGGG TGCCTGACTG
24250
TTG
A
GCAGCG AGTGCTTGTT GAATGGGAAC CTGCTGGCTG ATGAATGGGG
24300 |
var(24254):[C:0.04]
AACCCGGTGC TTCAGGGAGA GACCCTG
A
GC TTCACTTCTC TGTGGGGCTC
24350 |
var(24328):[T:0.06]
CTCTTTGGGC TCCTGGATGT TGGGGAGCAG GTCCCCTTCC TCCCTGCCCC
24400
TAGCAGCTGG GCTATACCTT CCCCTGGGTG GCAGAGGCAG GGCCTGATGA
24450
CTGTCTCATG CCATCCTCAG
G
T
G
G
G
A
G
G
T
G
T
C
A
G
A
G
C
C
C
A
G
C
T
C
A
T
G
C
A
C
24500 | Exon 20
W E V S E P S S C T 817
A
T
C
A
G
C
T
G
G
T
G
G
A
G
C
A
G
G
C
C
T
G
G
C
C
T
T
G
G
A
G
A
A
C
G
A
G
A
C
C
T
G
T
G
T
G
C
C
A
G
24550
S A G G A G L A L E N E T C V P 833
G
G
G
C
A
G
A
T
G
G
C
C
T
G
G
A
G
G
C
T
C
C
A
G
T
G
A
C
T
G
A
G
G
G
G
C
C
T
G
G
C
T
C
C
G
T
A
G
A
T
24600 |
var(24558):[C:0.03]
G A D G L E A P V T E G P G S V D 850
G
A
G
A
A
G
C
T
G
C
C
T
G
C
C
C
C
T
G
A
G
C
C
C
T
G
T
G
T
C
G
G
G
A
T
G
T
C
A
T
G
T
C
C
T
C
C
A
G
G
24650
E K L P A P E P C V G M S C P P G 867
C
T
G
G
G
G
C
C
A
T
GTGAGTGCCC TGGGCATGAG GGTGGCTGGG GCTGTTGAGT
24700
W G H 870
CCTTTACCTG GCTGGGAGAA CGAGGAGCAC CCATTGCCAC CGTCCTCCAG
24750
GCCAGAGCAA GAACACCATC CTTCTGTGGG AATGCTGTCT GAGGGCCACC
24800
CCTGCTCAGA AAAGAAGCTT AGAAAGAGGG CTCAG
G
GCCC CTGGGAAGGC
24850 |
var(24836):[A:0.01]
TCCCATTCCC CTTGCAAGCC GGGCTGAGGG AAGCATCTGA GGAGAGTGTA
24900
ATGCAGCTGC TGTGCAGAGA AATGCTGCCA GGCTCCCGCC TGGCGTCCAG
24950
GGGCTGGAGG CTGACTGGCC TTGCTCTCTG GCCTGGGTGC TGGCAACCCT
25000
CGCCCCTCAT GGCTGGGGGG ATTGCAGGGC CAGGCAT
G
CT CCCA
T
GTCCC
25050 |
var(25038):[A:0.01]
|
var(25045):[A:0.07]
ACTCTTGGTC CCCAGCTCTC GGCCAGGCCC ACAGTGAGCA CTCATGCTGC
25100
TGAGGAGCCT GCAAAGGTGG GGTGTGCAGC AAGGATACCC GCTGCGAGAC
25150
CGGGGAGC
C
G
ATCT
C
GCCAA GGGAGGAGGG GAGGGAGCCC CTGGTGCACA
25200 |
var(25159):[T:0.03]
|
var(25160):[A:0.08]
|
var(25165):[T:0.03]
CACGCCACTT CCTGGTCTCT CTGCTGCTGC CTGAGAAGAT CGAGACGGGG
25250
ATCGCTGGGT CCTCAGAGGA GGCCCAGACC CACCAGCTTG TTGCTATTCC
25300
CCACAG
C
T
G
G
A
T
G
C
C
A
C
C
T
C
T
G
C
A
G
G
G
G
A
G
A
A
G
G
C
T
C
C
C
T
C
C
C
C
A
T
G
G
G
G
25350 | Exon 21
L D A T S A G E K A P S P W G 885
C
A
G
C
A
T
C
A
G
G
A
C
G
G
G
G
G
C
T
C
A
A
G
C
T
G
C
A
C
A
C
G
T
G
T
G
G
A
C
C
C
C
T
G
C
G
G
C
A
G
25400 |
var(25395):[T:0.17]
S I R T G A Q A A H V W T P A A 901
G
G
T
C
G
T
G
C
T
C
C
G
T
C
T
C
C
T
G
C
G
G
G
C
G
A
G
GTG AGGGCCCCCG GGATGCTCCT
25450
G S C S V S C G R 910
GGGGACCAGC ACTCATGGTA ACTCTCCTGT CCACTTGCAT CTTGCCTCGT
25500
TCT
A
AAAAGC ATTTGAGGTG GATTGCAGAA AATCCAGACT ATATGGGAAC
25550 |
var(25504):[G:0.36]
ACGTGGTAAT ACACAAGGAG ACTAAGCATA GTAGCTGACA GCCACTTCAA
25600
ATGTGGGTGT TGATTGGCTG AAAGGTAGGA AAAGACAATA ACGCC
C
GGCA
25650 |
var(25646):[T:0.04]
GTGTGGCA
C
G AGAGCCATTC CTTATGGTCC TAGCAGAGCG GCCGGGGGGT
25700 |
var(25659):[T:0.06]
CCCCAATTGA TGACCCGAGC AGAGAAACCT TAGCTTTAAG ATACACAGCG
25750
TTCTTCTATT TTCCCAATC
T
T
G
T
T
T
T
A
T
T
G
C
A
G
T
A
T
A
A
C
A
C
A
G
A
T
A
T
T
A
T
25800 |
REPEAT
A
A
A
A
T
T
T
A
C
C
A
T
C
C
A
A
A
C
T
G
T
T
T
C
T
C
C
C
T
G
T
G
C
A
G
G
T
C
A
G
T
G
G
C
A
T
A
A
A
A
25850
G
C
A
C
A
G
T
C
A
C
A
T
T
G
T
T
G
T
G
C
G
G
C
C
A
T
C
A
C
C
A
C
C
A
A
C
C
T
C
T
C
C
A
G
A
A
C
T
T
T
25900 |
var(25878):[G:0.19]
|
var(25891):[T:0.01]
T
C
C
A
G
T
T
T
C
G
C
A
A
A
C
T
G
G
A
G
C
T
C
T
G
T
C
C
C
T
G
T
G
A
A
A
C
A
C
G
A
A
C
T
C
C
C
A
T
T
25950
T
C
C
C
C
C
T
C
C
G
C
A
G
C
C
C
C
T
G
G
C
A
A
C
C
T
C
C
A
T
T
C
T
C
C
T
T
T
C
T
G
T
C
T
C
C
A
G
A
T
26000
T
C
C
A
C
A
A
T
T
C
T
A
G
G
G
A
C
C
T
T
G
T
A
G
A
A
G
T
G
G
A
A
T
C
A
T
A
T
A
G
C
A
T
T
T
G
C
C
T
T
26050
T
T
T
G
T
T
A
C
T
A
G
T
T
T
T
C
A
C
T
C
A
G
C
A
T
G
A
T
G
T
C
C
T
C
A
C
A
G
T
T
C
A
T
C
C
A
T
G
T
T
26100
G
T
A
G
C
A
T
G
T
G
T
G
A
G
T
G
T
T
T
C
C
T
T
C
T
T
A
A
G
G
C
T
G
A
A
A
A
A
G
A
T
T
C
C
A
T
T
G
T
G
26150
A
G
T
G
T
A
T
C
C
T
T
T
A
C
A
G
G
T
T
T
A
T
C
C
A
T
T
T
A
T
T
C
A
T
C
A
G
T
G
G
A
C
A
C
T
T
G
G
C
T
26200 |
var(26166):[T:0.35]
T
C
C
T
T
C
C
A
C
A
C
T
T
T
G
G
C
T
A
T
T
G
T
G
A
A
T
A
A
T
G
C
T
T
C
T
G
T
G
A
A
C
A
T
G
G
G
T
G
T
26250
G
C
A
A
A
T
A
T
C
T
G
T
T
T
G
A
G
T
T
C
C
T
G
C
T
T
T
C
A
G
T
T
C
T
T
T
T
G
G
G
T
G
T
A
T
A
T
C
T
A
26300 |
var(26259):[G:0.01]
G
A
A
G
T
G
T
G
G
T
A
G
C
T
G
G
G
T
A
A
G
A
T
G
A
G
A
A
T
T
C
T
A
T
G
T
T
T
A
A
T
T
T
T
T
G
T
G
G
A
26350 |
NOT SCANNED
A
C
T
G
C
T
G
G
A
C
T
G
T
T
T
T
C
C
C
C
A
G
T
G
G
C
T
G
C
A
C
C
A
T
T
T
T
A
C
A
T
T
T
C
C
A
C
T
A
A
26400
T
G
G
T
G
C
A
T
A
A
G
A
G
T
T
C
C
A
A
T
G
T
C
C
T
C
C
C
A
T
C
C
T
T
G
C
C
A
A
C
A
C
T
T
T
T
T
A
T
T
26450
T
C
T
A
T
G
G
T
T
T
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
A
T
T
C
26500 |
REPEAT
T
G
T
T
G
C
C
G
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
T
G
G
C
T
C
A
T
T
G
T
A
A
C
C
T
T
26550
C
G
C
C
T
C
C
G
G
G
G
C
T
C
A
A
G
T
G
A
T
T
C
T
C
G
T
G
C
T
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
A
G
26600
G
A
C
T
A
C
A
G
G
C
G
T
C
T
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
T
T
A
G
T
A
G
A
G
A
26650
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
C
C
A
A
A
C
T
C
T
T
G
A
C
C
T
C
A
G
G
T
26700
G
A
T
C
T
G
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
C
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
C
26750
C
C
A
C
A
C
C
T
G
G
C
C
T
A
T
T
T
C
T
G
T
G
T
T
T
T
T
T
T
T
A
T
A
A
T
G
G
C
C
A
T
C
C
T
A
A
T
G
G
G
26800 |
REPEAT
C
T
T
G
A
G
A
A
G
A
C
A
C
A
C
C
A
T
G
T
T
C
T
T
A
A
A
C
G
A
A
A
A
C
C
C
T
G
A
C
C
A
C
T
T
G
C
T
C
A
26850
G
T
A
A
A
A
T
G
T
C
A
G
C
C
T
G
T
T
T
A
A
A
A
C
C
G
A
G
A
C
C
A
A
A
A
A
G
A
G
A
T
T
T
C
T
T
T
T
T
C
26900 |
REPEAT
T
C
T
C
T
T
T
T
C
T
T
T
T
T
T
G
A
G
A
C
A
A
A
A
A
A
G
A
A
A
A
C
C
T
C
T
G
T
C
A
C
C
A
G
G
T
T
G
G
A
26950
G
T
G
T
A
G
T
G
G
C
A
C
A
A
T
C
T
T
A
G
C
T
C
A
C
T
A
C
A
A
C
C
T
C
C
A
C
C
A
C
C
T
G
G
G
C
T
G
A
A
27000
G
C
C
A
T
C
C
T
C
C
C
C
C
C
T
C
A
G
C
C
T
C
C
T
G
A
A
T
A
G
C
T
A
C
T
A
T
A
C
C
C
T
G
C
T
A
A
T
T
T
27050
T
T
G
T
A
G
T
T
T
T
G
G
C
A
G
A
G
A
T
G
G
G
A
T
C
T
C
C
C
T
A
T
G
T
T
G
C
C
C
A
G
C
C
T
G
A
T
C
T
C
27100
C
T
G
A
G
C
T
C
A
A
G
C
G
A
T
C
C
T
T
C
T
G
C
C
T
C
G
G
C
C
T
C
T
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
27150
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
A
A
C
C
A
A
G
A
G
A
T
T
T
T
T
T
T
T
C
T
T
T
T
T
C
T
T
T
T
T
27200 |
REPEAT
T
T
T
C
T
T
T
T
T
T
T
T
G
A
G
A
C
T
A
A
G
A
G
T
T
T
T
C
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
A
A
G
T
G
27250
C
A
G
T
G
G
T
G
T
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
A
T
G
T
T
C
A
A
A
C
G
27300
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
C
A
G
C
T
G
G
G
A
C
T
C
C
A
G
C
T
A
T
G
T
G
C
C
A
C
27350
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
A
T
T
T
T
A
T
C
A
G
A
G
A
G
G
G
G
G
T
T
T
C
G
C
27400
C
A
T
G
A
T
G
G
C
C
A
C
G
C
T
G
G
T
C
T
C
A
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
C
G
C
27450
C
T
T
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
T
G
A
G
C
C
T
A
T
T
27500
T
C
T
T
T
TGAGG ATATTCCTAA AAGAGAGACT TGAGAAAACT GGCCCTAATA
27550
ACATCTTTAT GATAGACACA ATCAGAGATT TTCATATTGT GA
T
T
T
T
T
T
T
T
27600 |
REPEAT
T
C
T
T
T
T
T
T
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
C
A
C
C
C
A
G
G
C
T
G
G
A
G
27650 |
var(27609):[C:0.11]
T
C
C
A
G
T
G
G
C
G
C
A
G
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
T
G
G
G
T
T
C
A
A
G
27700
T
G
A
T
T
C
T
C
C
G
T
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
G
C
A
C
C
A
27750
C
C
A
C
G
C
T
C
A
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
G
G
G
T
T
T
C
A
C
C
A
T
G
27800
T
T
G
G
T
C
A
G
G
C
T
C
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
C
G
C
C
G
C
C
C
A
A
A
G
T
27850
G
C
T
G
T
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
T
G
G
C
C
CATAT TGCAATTCTT
27900
ATAATGCCTC TCGGTCAAC
A
A
T
A
A
C
A
G
C
T
A
C
C
A
T
T
T
G
T
C
A
A
G
T
G
T
C
T
A
C
T
27950 |
REPEAT
G
T
G
T
G
C
C
A
G
G
C
A
C
T
T
G
T
T
A
T
C
T
T
C
C
C
T
T
T
T
A
A
A
A
A
T
C
T
T
T
A
T
A
A
A
T
G
A
T
T
28000
C
T
G
C
A
A
G
G
T
A
G
A
T
G
C
C
A
T
T
A
T
C
T
T
T
T
T
T
T
C
T
A
A
A
T
C
T
A
A
G
A
T
T
C
A
G
A
G
G
G
28050
T
T
A
A
G
T
C
A
G
T
T
G
T
C
T
G
A
G
G
T
C
A
C
A
C
A
G
C
T
G
G
T
A
A
G
T
G
G
C
A
G
A
G
C
C
G
G
G
A
T
28100
T
G
A
A
A
C
C
C
A
T
G
C
G
G
GCCTTA TGTGCTAGAG GTGTCCAGTG AGCCTGGGCT
28150
GCAGTCCTTG CTGAGCCTGT CCCTTGGGGC TCTGGGTCTC TGCTTTGTCC
28200
ACGCAG
G
T
C
T
G
A
T
G
G
A
G
C
T
G
C
G
T
T
T
C
C
T
G
T
G
C
A
T
G
G
A
C
T
C
T
G
C
C
C
T
C
A
G
G
28250 | Exon 22
G L M E L R F L C M D S A L R 925
G
T
G
C
C
T
G
T
C
C
A
G
G
A
A
G
A
G
C
T
G
T
G
T
G
G
C
C
T
G
G
C
A
A
G
C
A
A
G
C
C
T
G
G
G
A
G
C
C
G
28300
V P V Q E E L C G L A S K P G S R 942
G
C
G
G
G
A
G
G
T
C
T
G
C
C
A
G
G
C
T
G
T
C
C
C
G
T
G
C
C
C
T
G
C
T
C
G
GTGA GTGAGGGGAG
28350
R E V C Q A V P C P A R 954
CAAGACTGTG TGCTGGCCTT CTCCCTGTAA GTGGGAGACC
C
GAGCCTTGG
28400 |
var(28391):[T:0.10]
CTCCATGCCC
G
GTGACCTGC GGAGGGGGGC AGGTGCTGCT GGCTGTGCAC
28450 |
var(28411):[A:0.01]
TGTGTGAGGC TGGACCATGG CCGCCCCATC CCCCTGCCTC ACTCCAAGTG
28500
CAGGCCAGAG CCCCGGCCCA GCCCCTTTGA GGACTGCAAC CCAGAGCCCT
28550
GCCCTGCCAG GTGGGCCCCT TCCCAAGGAG ACAGGGGGTG CTAGGTCTGC
28600
ATCCTGGCTC TTTCCTCACC TCCAAGCCAG ACCTTTTGAC CCTCAGTGTC
28650
CTCACCAGTG GGAGCAGGTC ATTTTGTGCC CCCAGAAGAC TGGGGGAGTT
28700
TAATGAAAGG ATTAGATGCA TGTAAAGTAC ATGCTAAATG CAATGAGTGT
28750
AAAATGCATG CTCGATGCAA CGCGTGTAAA GTACATTGCA CAGGATCTGG
28800
GATGCTGTGG GTGCACATGG TTGCTGGTGC GTTTCTTCAT CGCCTGCTC
T
28850 |
REPEAT
T
T
A
T
G
G
A
G
C
A
C
C
T
A
G
G
C
C
C
C
G
G
G
G
C
C
G
T
C
C
T
G
G
A
G
C
T
A
G
G
G
G
A
C
A
C
A
G
C
A
28900
G
A
G
A
A
C
A
A
G
G
C
A
G
A
C
A
A
A
T
G
T
C
C
C
T
G
A
C
C
T
C
C
T
G
G
A
G
C
A
A
A
T
G
C
A
G
G
G
G
G
28950
A
A
A
G
G
G
G
G
A
C
A
G
A
T
A
A
T
A
A
T
A
G
G
A
C
A
G
G
C
G
G
G
G
A
A
T
G
C
A
G
T
T
T
G
A
T
G
G
A
T
29000 |
var(28979):[T:0.11]
G
G
T
G
T
T
C
A
G
T
G
C
G
A
T
G
C
A
G
C
C
A
A
A
C
A
C
A
G
C
G
G
G
A
G
G
G
G
A
G
G
A
G
G
G
G
A
G
G
G
29050
C
T
G
G
C
G
G
G
G
T
G
G
G
CTCCAGG GCGGTGGTGC TGGGATCACT GTTGAAGACA
29100
GACATGCAGG GCCCTTGG
G
T GCCCGGACC
C
CTGCCCCCAC TGTCTCTGGG
29150 |
var(29119):[C:0.03]
|
var(29130):[G:0.02]
ATACGACATC TGT
C
GTTTGC CCTCACCTTT CTCTTCTGTA AAATGGGTTT
29200 |
var(29164):[G:0.20]
GTCCAAATGT TCTGTCCACT CTGCCAAGCC TCTTGGTGAG GACACAAGGG
29250
GGCCTCCAGA AAGAGAACCT CTCCGGGCCC TTCCCAGCTT CCTGTCTCTT
29300
CCTAGTCTGG GGAAATGAAG GGGAGACCTG GCTCCCCTGG GTTCCCAGGC
29350
CCTGGGGCTG TTTGGGGTCC CTGACTCCAG TTTGCTCCAG
G
T
G
G
C
A
G
T
A
C
29400 | Exon 23
W Q Y 957
A
A
G
C
T
G
G
C
G
G
C
C
T
G
C
A
G
C
G
T
G
A
G
C
T
G
T
G
G
G
A
G
A
G
G
G
G
T
C
G
T
G
C
G
G
A
G
G
A
T
29450 |
var(29439):[T:0.03]
K L A A C S V S C G R G V V R R I 974
C
C
T
G
T
A
T
T
G
T
G
C
C
C
G
G
G
C
C
C
A
T
G
G
G
G
A
G
G
A
C
G
A
T
G
G
T
G
A
G
G
A
G
A
T
C
C
T
G
T
29500 |
var(29473):[A:0.01]
L Y C A R A H G E D D G E E I L 990
T
G
G
A
C
A
C
C
C
A
G
T
G
C
C
A
G
G
G
G
C
T
G
C
C
T
C
G
C
C
C
G
G
A
A
C
C
C
C
A
G
G
A
G
G
C
C
T
G
C
29550
L D T Q C Q G L P R P E P Q E A C 1007
A
G
C
C
T
G
G
A
G
C
C
C
T
G
C
C
C
A
C
C
T
A
G
GTGAGTC AGCCGGTGAT GGGAGGGGCA
29600
S L E P C P P R 1015
GCTCCTGGTG TGTGCAGATG CCAG
G
C
C
A
G
G
C
G
C
T
G
T
G
G
T
G
T
G
T
G
C
C
T
G
T
A
29650 |
REPEAT
A
T
C
G
C
A
G
C
T
A
C
T
T
G
G
A
A
A
G
C
T
G
A
A
T
C
A
G
G
A
G
A
A
C
C
A
C
T
T
G
A
G
T
C
C
A
G
G
A
G
29700
T
G
C
A
A
G
T
C
C
A
A
C
C
T
G
G
G
C
A
A
C
A
C
A
G
T
G
A
G
A
C
C
T
C
A
T
C
T
C
T
A
A
A
A
A
A
A
A
A
A
29750
C
A
A
G
A
CGG
G
G
C
C
A
G
G
T
G
T
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
G
C
T
A
T
G
G
29800 |
REPEAT
A
A
G
G
C
T
G
A
A
G
C
G
G
G
T
G
G
A
T
T
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
C
T
T
G
A
G
A
C
C
A
G
C
C
T
G
29850
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
T
T
A
C
T
A
A
A
A
A
T
A
C
A
A
C
A
A
T
T
A
G
G
C
T
G
G
29900 |
REPEAT
G
C
G
C
G
G
T
G
G
C
T
C
A
C
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
G
G
G
29950 |
NOT SCANNED
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
T
G
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
T
C
C
A
A
C
A
T
A
C
A
G
A
A
30000
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
T
A
C
A
T
G
C
30050
C
T
G
T
A
A
T
C
C
C
A
G
T
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
G
G
G
G
30100
A
G
G
C
C
A
A
G
G
T
T
G
T
G
G
T
G
A
G
C
C
A
A
G
A
T
T
A
C
G
C
C
A
C
T
G
G
A
C
T
C
C
A
G
C
C
T
G
G
C
30150
T
A
A
C
A
G
C
A
G
C
A
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
C
C
C
30200 |
REPEAT
A
C
A
A
A
A
A
T
T
A
G
C
C
T
G
G
C
G
T
G
G
T
G
G
T
G
T
G
C
A
C
C
T
G
T
C
A
T
C
C
C
A
G
C
T
A
C
T
T
C
30250
A
G
A
G
G
C
G
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
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
G
T
30300
G
A
G
C
C
G
A
G
A
T
G
G
C
G
C
C
G
C
T
G
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
T
A
C
A
G
A
G
C
G
A
G
A
C
T
30350 |
var(30344):[T:0.02]
C
C
G
T
C
T
C
A
A
A
A
A
C
A
A
A
A
C
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
G
A
CGGGG T
G
GGGGGCTC
30400 |
var(30392):[T:0.03]
AGTGGCCCAA GAGCCAGTCT GTAAGGAATA GGGCTACCTG GCAGGCTGTG
30450
CTAGTTGT
G
G
G
AGGTGAAGT TTAAGCACCA TGCAGGCAGG GTGCAGTGTG
30500 |
var(30459):[A:0.01]
|
var(30461):[C:0.07]
GGGAGGCCTG GGGGACAGAG GAGGCA
G
CAT TTGAGCAGAA CCTAAAGCTG
30550 |
var(30527):[A:0.02]
TGAGCACCAG CATTCTGATG TGGAAGACGG GAGGGATGGA GGTCTCCACA
30600
GGGACACACA CAGCCACACT AGGACACGGG ACAGAATCAT GTTCAAGTCC
30650
GTGGGGTCCG GAGCCCAGTG GTAAAGGGCG AACATTTGCC TACCTCATTT
30700
ACAATTCTTT AATGGTTTCT TTTTGTAGGT TTGCATTTTT AGTAAAGAAA
30750
TACTTTTCTA TATCATACAG AAACGTCCAG AAAAGAATGT AACAGACATG
30800
TATGTTCCAG CACTCCAGTT TAATAGATAG CATCCTACTG CCATGTTTCC
30850
TTCCTGTCCA CTTAC
T
T
T
T
A
T
T
T
A
T
T
T
A
A
T
T
T
A
T
T
T
A
T
T
T
T
G
A
G
A
C
G
G
A
G
30900 |
REPEAT
|
NOT SCANNED
T
C
T
C
G
C
T
T
T
G
T
T
G
C
C
C
A
G
G
C
A
G
T
G
A
T
G
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
30950
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
C
A
T
T
C
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
31000
G
A
A
T
A
C
A
G
G
C
A
C
C
C
A
C
A
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
C
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
31050
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
A
T
T
G
G
T
C
A
G
G
C
C
G
A
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
31100
G
G
A
G
A
T
C
T
G
C
C
T
A
C
C
T
C
A
G
C
A
T
T
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
A
T
G
T
G
A
G
31150
C
C
A
T
C
A
C
A
C
C
T
G
G
C
C
A
G
C
C
T
C
C
T
T
A
G
T
T
T
T
A
A
A
T
A
A
A
T
C
C
A
G
T
T
A
C
A
G
A
T
31200
A
A
G
A
T
T
T
C
A
C
T
T
A
A
A
T
T
T
A
G
G
C
T
G
G
T
C
A
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
T
C
A
G
31250 |
REPEAT
C
A
C
T
T
C
A
G
G
A
G
G
C
T
G
A
G
A
T
G
G
G
T
G
G
A
T
C
A
T
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
T
G
A
G
A
31300
C
C
A
G
C
C
T
G
G
A
C
A
A
C
A
T
G
C
C
A
A
A
A
C
C
T
T
G
T
C
T
C
T
A
C
T
A
T
A
A
A
T
A
C
A
A
A
A
A
T
31350
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
T
G
C
C
A
G
T
A
T
C
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
31400
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
C
T
G
A
A
C
C
T
T
G
G
G
A
G
G
T
C
A
A
G
G
C
T
G
C
A
G
T
G
A
G
C
A
G
A
31450
G
A
T
C
A
C
A
C
C
A
C
C
A
C
T
G
C
A
T
G
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
C
A
T
G
A
G
A
C
C
C
T
G
T
C
31500
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
T
T
T
T
A
C
T
T
A
A
A
T
T
T
A
A
A
C
C
C
T
G
T
31550 |
REPEAT
A
C
T
A
A
T
C
T
G
T
G
A
T
T
T
A
T
T
T
G
G
A
G
T
A
T
G
T
T
G
C
A
A
A
G
T
A
G
G
G
A
C
C
A
A
A
G
G
A
T
31600
T
T
T
T
T
T
T
T
T
T
T
T
C
T
A
A
A
T
T
G
T
T
A
A
C
T
A
G
C
A
T
C
T
G
T
T
G
G
A
C
A
A
G
C
C
C
T
G
A
T
31650
G
C
C
T
C
C
A
G
G
T
G
G
C
T
C
C
T
T
G
G
T
G
G
T
A
T
T
G
G
T
G
T
G
T
G
T
T
A
G
A
A
T
C
T
A
T
G
T
C
T
31700
G
G
G
C
T
T
T
C
T
A
C
T
G
G
G
T
T
T
T
T
T
T
C
T
T
C
T
C
C
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
T
T
31750 |
REPEAT
T
T
T
C
T
C
T
G
T
C
A
C
C
C
A
G
G
G
T
G
G
G
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
31800
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
T
T
C
A
T
G
C
C
T
C
A
G
C
T
T
C
C
C
G
A
G
T
31850
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
C
A
C
C
C
C
C
A
A
C
T
G
A
T
T
T
T
G
T
G
T
T
T
T
T
31900
A
A
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
31950
C
C
T
C
A
A
G
T
G
A
T
C
T
G
C
C
A
G
G
T
T
C
T
G
T
T
T
T
T
T
G
T
G
C
T
T
T
T
T
T
T
T
T
C
T
A
G
C
T
A
32000 |
REPEAT
T
T
C
T
C
T
T
G
C
C
C
A
T
A
C
A
A
A
A
T
T
G
T
T
T
T
A
A
A
T
G
T
T
G
T
A
G
C
T
T
T
A
T
A
A
C
C
A
T
T
32050 |
var(32011):[G:0.01]
T
A
A
C
A
T
C
T
G
T
G
T
C
A
C
T
A
G
T
G
T
G
T
C
C
T
G
A
T
T
T
C
T
T
T
G
C
C
T
A
T
G
C
T
A
A
A
G
T
C
32100
C
C
T
T
G
G
C
T
G
T
G
T
G
T
C
C
C
A
T
T
T
A
T
T
T
T
T
C
C
A
C
A
T
C
A
C
A
T
T
T
A
G
A
GATGATC
32150
TGGGATTTTA TGGGAATTGC AGGGTTTTTC ACACTGCACG CTGCCTGCAT
32200
G
GTGCTTAAA CTTCACCTCC CACACCTAGC ACAGCCTACC AGGTAGCCCT
32250 |
var(32201):[A:0.01]
G
TTCTCTACA GACCACCTCT TGGGCCACTG AGCCTCCCCT CAC
T
T
T
T
T
T
T
32300 |
var(32251):[A:0.01]
|
REPEAT
T
A
G
A
G
A
T
G
G
G
G
T
C
T
C
A
C
T
A
T
G
T
T
G
C
C
C
A
G
T
C
T
G
G
A
C
T
T
G
A
A
T
T
C
C
T
G
G
G
C
32350
T
C
A
A
G
T
G
A
T
C
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
G
C
A
G
G
C
A
C
A
32400
C
A
C
T
A
C
ATGA G
C
T
C
T
G
G
C
C
A
T
C
C
C
T
C
T
G
A
C
G
T
T
G
C
T
G
T
A
G
C
C
A
C
G
C
T
G
G
C
32450 |
REPEAT
C
T
C
A
T
T
G
T
C
C
T
G
G
A
A
C
A
T
T
C
C
A
G
G
G
A
T
A
C
T
C
C
C
C
T
G
A
C
T
T
A
G
G
G
C
T
T
C
T
G
32500
T
G
C
T
A
G
C
T
C
T
C
G
C
T
G
C
C
T
G
A
T
G
T
C
T
T
C
T
G
T
G
G
A
T
A
T
C
C
T
C
G
A
G
G
C
C
C
T
G
G
32550 |
NOT SCANNED
A
T
A
T
C
C
C
T
C
C
C
C
C
A
G
G
C
T
C
G
G
C
T
C
A
G
A
C
A
C
C
A
C
A
A
C
T
C
C
A
A
A
G
T
G
G
C
C
C
A
32600
G
T
G
C
C
C
T
C
C
C
T
G
A
G
C
G
T
C
G
G
T
C
C
A
G
A
A
C
G
G
C
A
C
T
C
T
C
G
T
C
C
C
T
C
C
T
G
T
G
A
32650
C
G
C
T
C
T
G
C
T
T
G
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
32700 |
REPEAT
A
G
G
A
G
T
T
C
T
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
C
G
T
C
T
C
T
A
C
A
A
A
32750
A
A
A
T
A
C
A
A
A
A
A
T
T
G
G
C
T
G
T
G
C
G
C
G
G
T
G
G
C
T
T
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
32800 |
REPEAT
T
T
T
G
G
G
A
G
G
C
G
A
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
32850
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
32900
T
G
G
G
T
G
T
A
G
T
G
G
T
G
G
G
T
G
C
C
T
G
T
A
G
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
32950
A
G
G
A
G
A
A
T
G
A
C
G
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
33000
T
G
C
T
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
T
G
C
C
A
C
33050 |
REPEAT
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
T
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
C
A
A
A
A
A
C
A
33100
A
A
C
A
A
A
C
A
A
A
A
A
T
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
A
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
33150 |
REPEAT
G
T
C
T
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
A
G
A
G
G
A
T
G
G
C
T
T
G
A
A
C
C
C
T
G
G
A
G
33200
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
T
G
A
T
C
A
C
A
C
C
A
C
T
G
C
C
C
T
C
C
A
G
C
C
T
G
G
G
T
G
33250
A
C
A
G
G
G
C
G
A
G
A
C
C
G
T
G
T
C
T
C
A
A
A
G
A
A
A
A
C
C
A
T
T
A
A
A
A
T
A
A
A
A
T
A
A
A
A
A
A
T
33300
A
A
A
A
T
T
T
C
T
G
C
G
A
T
G
C
A
C
A
C
G
A
C
A
G
C
C
T
C
C
ACAGCAAATC AGCATCCAGT
33350
TGCTCATGCC AGTGATGCCC CAATGGAGAA C
A
A
T
C
C
A
C
G
C
T
C
T
G
A
G
A
G
G
A
33400 |
REPEAT
G
G
T
G
G
G
G
T
C
T
G
G
T
T
T
G
G
T
T
C
A
C
T
G
C
C
A
C
C
T
C
C
C
A
G
T
G
T
C
A
T
G
T
A
G
A
A
C
A
G
33450
T
G
C
C
A
A
G
C
C
G
C
G
G
A
A
G
G
C
A
C
GGGTCCAAGA GGCAGCGCTG CAGGGTCATG
33500
GGGG
A
G
C
A
C
A
G
T
A
T
T
G
C
G
A
T
G
A
A
G
A
T
C
C
C
A
G
C
T
C
C
C
T
T
G
C
A
G
G
C
T
G
C
C
T
G
33550 |
REPEAT
|
var(33510):[G:0.01]
G
G
T
T
T
G
T
G
T
C
T
G
G
G
C
T
C
T
G
A AGAATGCGGG CCATAATTAG TTATTGATTG
33600 |
var(33555):[C:0.35]
ATTACAGATC AACATGGGCA GCCTTCCCTT GCCCAAGGGA AGGGAACTCG
33650
GCCTTCCCTT GCAGAACGTG GGGTGTTGAG ATCTGTCTCC TGTTACCCAG
33700
GGGCTCGCTT CCTGTTGCTG TTACTTGGGT CCATAGGCAA CCCCTGGGGT
33750
GCTGACAGGT GTTCTGTGAT AAAG
G
CGACT AGAGGGGGAT GTGCAATTAG
33800 |
var(33775):[C:0.15]
GGAAACAGGG GCCTCTTCCC CCTAGGGCCT TTTGGTAGCT CTCCTGTGGC
33850
CGTGAGCCCT GGCCCCAGAC AGGAGGGGCT CAGTGGCTGC ACTTTCCATC
33900
TTGCCTGGCC ACGGAAGCTG TCTAGGCAAC TGTCCGAGTA CACGTGGGTG
33950
GAGAGGGGCC TGCGTGGGGC AGTACTGTCT CTGGGGAGAC CTAGCCTCTC
34000
T
CTGGGGTCT TCTCTTCCTG CAG
G
T
G
G
A
A
A
G
T
C
A
T
G
T
C
C
C
T
T
G
G
C
C
C
A
T
G
34050 |
var(34001):[C:0.01]
| Exon 24
W K V M S L G P C 1024
T
T
C
G
G
C
C
A
G
C
T
G
T
G
G
C
C
T
T
G
G
C
A
C
T
G
C
T
A
G
A
C
G
C
T
C
G
G
T
G
G
C
C
T
G
T
G
T