C1QBP 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
AAGACCAGTG TGATAGTAGG CCATGCATCT GAGATACGAT ATTCCTTGGT
50
AACTAGAGGG AGAAAAAAAA ATCAAGTAGG TTCAGGCTTA TGTTGTATTT
100
TGAGAGTCTG GTTTTATTTG AACAGAAATA ACTCTACAGA AAGCTCTTGT
150
AAATAATGCT CAAATTTGCA CCCGACGATC AAATCCATTA AAAATGAATC
200
TTGTATATGA TGTGTGTGGC TTGTTTCTTG CATCTCTTTT CCATTATTCA
250
TAGAAAATTA TTTAGAAAAT ATTAAGTGTT AGTCTTACCA TGAGTTAGTA
300
AGACATACCT TCTTAGTAGC TTATATGTCC TGTATATCCT GGGAAGGTAG
350
GATTGTTGAT TTTTAATAAA TCTG
A
A
C
C
C
T
G
T
C
T
T
T
G
G
G
T
T
A
T
A
T
T
A
A
T
T
400 |
REPEAT
T
A
C
T
G
G
A
G
A
A
A
C
T
C
A
C
A
G
A
A
C
T
C
A
G
G
G
A
A
A
C
A
C
A
T
T
T
A
C
C
G
G
T
T
T
C
A
T
A
C
450
A
A
A
A
G
A
T
A
T
G
A
C
C
A
A
G
G
A
T
A
C
A
G
A
T
A
A
G
G
A
G
A
T
G
A
G
C
A
G
G
G
T
G
G
G
G
A
A
T
G
500
G
G
G
A
A
G
A
A
G
C
T
C
C
C
A
G
C
C
T
C
C
A
T
G
C
C
G
T
C
C
C
T
G
G
A
C
C
A
C
C
A
C
C
C
T
C
C
A
G
G
550
A
A
C
C
T
C
C
A
T
G
T
A
T
T
T
A
G
C
T
A
T
C
A
G
A
G
G
C
T
C
T
C
C
A
A
A
C
C
C
T
G
T
C
C
T
C
G
G
G
T
600 |
var(596):[T:0.02]
T
T
T
T
A
T
G
G
A
A
G
C
C
T
C
TGGAC TTATCTAAAT GATATAAGCT GGCTTCTTGT
650
CCCCAGAAAA ATGATGTTCC ATTAGAACTT GGATGCAAGG TTGGAGGTGC
700
AGAGAGGGAA GGTCACAAAA ATTAATCATG GATCCTGCCC TTGAGGATGT
750
CACAGTCTGG TTGGGTTTAA CCTGGTTAAA GCAGCAACGC TAGGAGGTTC
800
CTGTTGAAAA GAGAATGAAG CATATGGGCT GGGTGCGCAC AAGCATGAGT
850
TCCGAGCCGG TGGAAAAAAA GGTTCTAGAA GGCCTC
T
T
T
C
A
G
G
A
A
A
A
C
C
C
900 |
REPEAT
T
C
A
G
A
C
T
T
T
C
C
T
T
T
G
C
T
C
T
C
A
C
A
A
C
A
C
A
A
C
A
A
T
C
A
A
C
A
C
A
G
A
A
G
A
C
T
T
A
T
950
G
T
G
G
C
C
A
A
A
G
G
T
T
T
G
G
G
T
T
T
T
T
C
C
C
C
T
C
C
A
C
A
C
T
A
A
G
C
A
G
C
A
G
A
C
A
C
C
A
G
1000
C
T
G
G
G
T
G
T
C
C
T
C
C
A
A
T
T
C
A
A
T
C
C
C
A
A
C
A
G
T
A
T
C
T
A
C
C
T
G
G
A
G
A
T
A
G
T
G
T
C
1050
A
G
A
T
C
C
C
A
T
A
G
G
T
T
G
A
G
G
G
C
T
C
A
G
T
C
C
C
C
A
A
G
A
C
C
G
C
C
C
C
C
A
C
C
T
T
C
A
G
A
1100
C
A
G
C
A
A
T
G
G
C
A
A
G
T
C
T
G
G
G
C
C
T
C
T
G
A
A
A
C
T
T
C
C
G
A
C
C
A
A
C
C
C
G
C
T
T
C
A
A
G
1150
T
T
G
G
G
G
T
T
C
C
C
A
C
G
A
C
C
C
C
C
C
T
C
T
T
T
G
G
A
T
T
A
T
G
T
T
A
A
C
T
C
A
C
T
G
G
A
G
C
A
1200 |
var(1163):[T:0.06]
G
T
T
C
A
C
A
G
A
A
C
T
C
A
G
G
G
A
A
A
C
A
C
A
T
T
C
A
C
C
G
G
T
T
T
C
A
T
A
T
A
A
A
G
G
A
T
A
T
G
1250
A
C
C
A
A
G
G
A
T
A
C
A
G
A
T
G
A
G
A
T
G
A
G
C
A
G
G
G
T
G
G
G
G
A
A
T
G
G
G
G
A
A
G
A
A
G
C
T
C
C
1300
G
A
G
G
T
T
C
C
T
T
G
C
C
T
A
C
C
C
T
G
G
G
C
C
A
C
C
A
C
C
C
T
C
C
A
G
G
A
A
C
C
T
C
T
A
C
G
T
A
T
1350
T
C
A
G
C
T
G
T
C
A
G
A
G
G
C
T
C
T
G
C
A
A
A
C
C
C
T
C
T
C
C
T
C
T
T
G
G
G
T
T
T
T
T
A
T
G
G
A
A
G
1400
C
T
T
C
T
G
G
A
C
A
T
C
A
G
C
A
T
C
C
C
T
T
C
C
C
C
C
A
G
G
G
T
A
T
A
T
G
G
T
G
G
G
A
C
C
T
T
C
T
C
1450
T
G
G
G
A
A
G
G
G
A
C
T
T
A
A
G
A
C
C
C
A
T
A
A
T
C
A
G
A
A
A
T
G
T
G
G
A
A
G
G
A
G
A
T
T
A
G
A
G
T
1500
C
C
T
G
C
T
T
T
G
G
G
G
C
A
G
G
T
A
A
A
A
G
G
A
G
G
G
C
A
G
G
A
G
A
A
G
G
G
G
A
G
A
G
A
G
A
G
T
C
T
1550
G
T
T
T
C
C
T
G
A
G
G
C
C
T
A
A
C
A
C
A
C
C
C
A
A
C
A
T
T
A
T
C
A
C
A
G
A
A
C
A
T
T
G
T
A
A
C
A
A
G
1600
G
G
C
T
A
T
A
G
G
A
G
T
T
A
C
G
A
C
C
C
A
G
G
A
A
C
T
G
T
G
G
A
T
G
A
A
A
A
C
C
A
A
T
A
C
A
T
A
T
A
1650
T
A
T
A
T
C
A
T
A
A
C
A
C
C
A
C
A
GCC TCCTAGAGGA AAGTGACCGT GGAAGGGTCT
1700
GGTGAGAGCT GGCGGGAGAC AAGAGTGCAT TCCACGCAGC CCAAAAGCCT
1750
TGCGTGCTTT GAGAACAGCA GGTGGAAAGT GGGTAAGCGG CCACTAGAGG
1800
GAATTAAACA GCTTCGGACA GCGGACTCGG CAGCGCAGCA AGAAAGCTCC
1850
GGAATCCGGA TTCGAGGCTT CCCGGGCTGC ACCGGAGGTC TCCAGCAGAG
1900
GGCGCGATTC CGCCCGCTGG CCTTAG
G
TCG TCAGAGCGCC GGCGCGGGAA
1950 |
var(1927):[A:0.04]
GCGCTTCCGG GCAGGGGCGG GGCTT
C
C
G
G
C
G
G
C
G
C
C
T
C
A
G
G
T
C
G
C
G
G
G
G
C
2000 | Exon 1 |
UTR
G
C
C
T
A
G
G
C
C
T
G
G
G
T
T
G
T
C
C
T
T
T
G
C
A
T
C
T
G
C
A
C
G
T
G
T
T
C
G
C
A
G
T
C
G
T
T
T
C
C
2050
G
C
G
A
T
G
C
T
G
C
C
T
C
T
G
C
T
G
C
G
C
T
G
C
G
T
G
C
C
C
C
G
T
G
T
G
C
T
G
G
G
C
T
C
C
T
C
C
G
T
2100
M L P L L R C V P R V L G S S V 16
C
G
C
C
G
G
C
C
T
C
C
G
C
G
C
T
G
C
C
G
C
G
C
C
C
G
C
C
T
C
G
C
C
T
T
T
C
C
G
G
C
A
G
C
T
C
C
T
G
C
2150
A G L R A A A P A S P F R Q L L 32
A
G
C
C
G
G
C
A
C
C
C
C
G
G
C
T
G
T
G
C
A
C
C
C
G
G
C
C
C
T
T
C
G
G
G
C
T
G
C
T
C
A
G
C
G
T
G
C
G
C
2200
Q P A P R L C T R P F G L L S V R 49
G
C
A
G
G
T
T
C
C
G
A
G
C
G
G
C
G
G
C
C
G
G
G
C
C
T
C
C
T
G
C
G
G
C
C
T
C
G
C
G
G
A
C
C
C
T
G
C
G
C
2250
A G S E R R P G L L R P R G P C A 66
C
T
G
T
G
G
C
T
G
T
G
G
C
T
G
C
G
G
C
T
C
G
C
T
G
C
A
C
A
C
C
G
A
C
G
GTGAG GTTTAGCGGG
2300
C G C G C G S L H T D 77
CCGGGGGTGT GGTTTGCGTT CAACAGAGGG AAAACGTAGA CCAGGAATAG
2350
GGCCTGCAAC CGACCTCTGA GGTCTGGGAC ATTTTTCCAT TGATTGGCAA
2400
CCAGCGGGCT AAACCCACGT ATGATCATAT TTCCCCCACC TCCCCTATCC
2450
AGCAGTTTCG TTTTCTTTTG GTAGGGGGTG AATAAAATTA AATACTAGGG
2500
TACCTTTTTC CTTAGTCTTA TTCTATCGAA AGTGGACCTT TGGGAAGGCC
2550
CATGGTCGTG GTTGAAAATA GC
A
TAGTTAT ATCGTTTGGC AAGTGGAAGA
2600 |
var(2573):[G:0.10]
G
G
ATTGGAAA TTCTCCTGGT TTATAGCGGA AAGTGGTAAT GCGTTCATTG
2650 |
var(2602):[T:0.05]
TTGGAAATCA CTTTTCCAGA ATCAGGCTCA GCTTCCTACT ACTATTA
T
GG
2700 |
var(2698):[C:0.20]
TATTTTTACC GATAAGGAAA CAGGCTTCTA GAGTAACCGT AATAGCAGAG
2750
AGATTAGAAA CAGTCCAGGT TTCTGGCTGC AATAACCTGG GTAATAGTTT
2800
TATGTTTTAG ACTAACTGGC TTTCCTTTTT ATGTATCTGG ATTTCTTTTC
2850
TAG
G
A
G
A
C
A
A
A
G
C
T
T
T
T
G
T
T
G
A
T
T
T
C
C
T
G
A
G
T
G
A
T
G
A
A
A
T
T
A
A
G
G
A
G
G
A
A
2900 | Exon 2
G D K A F V D F L S D E I K E E 93
A
G
A
A
A
A
A
T
T
C
A
G
A
A
G
C
A
T
A
A
A
A
C
C
C
T
C
C
C
T
A
A
G
A
T
G
T
C
T
G
G
A
G
G
T
T
G
G
G
A
2950
R K I Q K H K T L P K M S G G W E 110
G
C
T
G
G
A
A
C
T
G
A
A
T
G
G
G
A
C
A
G
A
A
G
C
G
A
A
A
T
T
A
G
T
G
C
G
G
A
A
A
G
T
T
G
C
C
G
G
G
G
3000
L E L N G T E A K L V R K V A G 126
A
A
A
A
GTAAGT ACTGGTCTGG GGATCCCAGG GCAGCAACTC CCTTAACCTT
3050
E K 128
GCAGGACCCA TCCTGGGTCA TCCCCAGAAG AG
C
CTTGAGT TCAGGTGTGG
3100 |
var(3083):[T:0.02]
ATACTTTGAT AAATGGGTTT CAAGAGAGTG AAGGATTCAT TTGGACAACT
3150
TCGTAAGCCC CAGGCAGTCC ATTCACCGAA CACAAATTTG CTGTGGGCTG
3200
GTTACTAAGG AGACAAAAAT GTAGTGCAAA AAAGTACTGG CAGAATCAGT
3250
TTGATCTCTG ATTTACAGCC CTGATAAAAT AGGACACTGC TCTCTAATGT
3300
TTAGTATGGG TGAAAATGAA AAATATGTAA CTTCTATGTA ACAGGATGGG
3350
GTTACACTGT AGTAAGGGCT GCCATCAGAG G
T
GGGGAGTT TGTGAC
C
TAA
3400 |
var(3382):[C:0.03]
|
var(3397):[G:0.02]
GTCAGCTCCC CCATCATCTC CTAAACTGTT AAAGTGTTTA CACTTT
T
CTG
3450 |
var(3447):[C:0.01]
CATT
A
TAGTC ATCCATAATC TCATTACACA GATAAACATT TGGCATCTTC
3500 |
var(3455):[:0.02]
CAGGTTTTTA AATTGAGC
C
T
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
C
A
T
A
A
T
C
C
C
A
G
3550 |
REPEAT
C
A
C
T
T
T
G
G
G
A
C
G
G
G
C
A
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
G
A
A
A
A
T
C
C
T
G
G
C
T
A
A
C
A
C
3600 |
var(3561):[T:0.01]
T
A
A
A
A
C
C
C
T
G
G
C
T
C
T
A
G
T
A
A
A
A
A
T
T
A
A
C
C
G
G
G
T
A
T
G
G
T
G
G
C
A
C
G
T
G
C
C
T
G
3650 |
var(3634):[G:0.12]
|
var(3643):[G:0.07]
|
var(3644):[A:0.01]
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
G
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
3700
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
T
C
G
A
G
A
T
C
G
C
G
C
C
A
C
C
G
C
G
C
T
C
C
A
G
C
C
T
G
G
G
3750
C
A
A
C
A
G
A
G
C
A
A
G
A
C
G
C
C
A
T
C
T
C
A
A
T
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T TGAATTTCCT
3800
TCATAATTGA CCTTATGATG TGTATGTAAT
T
T
T
T
T
T
A
A
A
T
C
A
C
A
G
C
T
T
T
T
3850 |
REPEAT
A
T
G
A
G
A
T
T
T
A
A
T
T
G
A
G
A
T
G
G
C
A
T
A
C
G
A
T
T
T
A
C
C
C
A
T
T
T
A
T
T
G
A
A
G
T
T
T
A
T
3900
T
A
A
A
T
T
A
A
G
T
G
G
T
T
C
T
T
A
G
T
C
C
T
C
G
C
A
G
A
A
T
T
A
T
G
C
A
T
C
A
G
T
T
A
T
C
A
C
T
A
3950 |
var(3948):[G:0.01]
C
C
T
A
A
T
T
C
T
A
G
A
A
C
A
C
T
G
T
T
G
T
C
A
T
C
C
C
C
A
A
A
C
A
A
T
A
C
C
T
A
T
T
A
G
C
A
G
T
C
4000 |
NOT SCANNED
A
C
T
C
A
T
T
A
T
T
C
C
T
C
C
C
T
G
T
A
G
C
C
A
C
C
C
C
A
G
G
T
A
A
T
C
A
C
T
A
A
G
C
T
A
C
T
T
T
C
4050
T
C
T
A
T
G
G
G
A
T
T
G
C
C
T
C
T
T
T
T
G
G
A
C
A
T
T
T
C
A
T
A
T
A
A
A
T
G
G
A
G
T
C
A
T
A
C
A
A
T
4100
T
T
G
T
A
G
C
T
T
C
C
C
C
C
C
C
C
A
A
C
C
C
C
A
C
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
A
T
4150 |
REPEAT
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
4200
C
T
G
A
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
C
G
T
4250
C
C
G
G
T
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
A
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
G
G
C
C
4300
A
G
G
C
T
G
G
T
C
T
C
A
A
A
G
T
C
C
T
G
A
C
C
T
C
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
4350
A
A
G
T
G
C
T
G
G
G
A
T
T
T
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
C
T
G
C
C
C
A
C
C
C
T
A
T
T
T
A
C
C
T
T
T
4400 |
REPEAT
T
T
A
A
T
T
G
T
T
G
G
G
T
T
G
T
A
A
A
A
G
T
T
A
A
G
T
T
T
T
T
C
T
G
G
G
T
A
C
A
A
C
T
A
T
C
T
T
A
T
4450
C
A
A
A
T
T
A
A
T
G
A
T
T
T
G
T
A
A
G
T
A
C
T
G
T
T
T
C
C
C
A
T
C
T
T
G
T
G
G
G
T
T
T
C
C
T
T
T
T
C
4500
A
C
T
T
T
C
T
T
G
G
T
A
A
T
G
T
C
C
T
C
T
G
A
C
A
C
A
A
A
A
G
T
T
T
T
T
A
A
T
T
T
T
G
A
G
G
A
A
G
T
4550
T
C
A
G
T
T
T
A
C
C
T
A
T
T
T
T
T
T
T
G
G
T
C
G
C
T
T
G
T
G
C
T
T
T
T
T
T
A
T
T
T
A
T
T
T
T
T
T
A
C
4600
T
T
T
G
C
T
T
C
T
A
A
T
T
C
A
C
C
A
A
G
T
G
C
A
A
C
T
T
G
T
G
C
T
T
T
T
T
T
A
G
T
G
T
C
A
C
G
T
C
T
4650 |
REPEAT
A
A
G
A
A
A
C
C
A
C
T
G
C
C
T
A
A
C
C
C
A
A
G
G
T
T
G
T
G
A
A
G
A