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