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