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
T
G
T
A
T
G
C
C
T
T
A
A
T
T
T
T
T
4700
T
C
A
A
A
G
T
T
T
T
C
T
A
G
T
T
T
T
A
G
C
T
C
T
T
A
G
T
T
T
A
G
G
T
C
T
G
T
G
A
T
T
C
A
T
T
T
T
G
A
4750
A
T
A
T
G
G
T
G
T
G
A
A
G
T
A
G
G
G
T
C
C
T
G
A
T
T
C
T
C
T
T
G
C
C
T
G
T
T
G
C
A
T
A
G
T
G
T
G
T
T
4800
T
T
T
G
C
C
C
T
A
C
A
C
A
G
G
T
C
A
A
T
T
G
T
G
T
C
T
T
C
T
G
T
A
A
T
C
T
C
A
C
C
T
A
A
A
C
A
C
C
A
4850
T
T
T
G
C
G
C
A
A
G
G
T
T
T
T
C
A
T
A
G
C
T
A
T
T
T
G
G
G
G
G
C
C
A
T
T
A
A
A
A
A
T
A
A
T
G
C
T
C
T
4900
G
A
T
G
A
A
C
G
T
C
A
T
T
C
A
A
T
T
T
C
T
G
T
G
C
C
C
A
G
G
A
G
C
T
C
A
G
C
T
T
A
G
T
C
A
G
C
A
C
A
4950
G
T
T
G
G
A
A
T
T
A
G
A
C
A
G
A
T
T
T
T
G
T
C
A
A
C
C
T
C
A
G
A
C
T
G
C
C
T
C
T
G
T
T
G
C
C
A
T
G
G
5000
A
A
A
G
G
T
G
G
C
T
T
C
C
T
G
G
C
A
G
A
G
C
A
G
C
T
A
G
T
T
A
G
C
A
C
A
A
G
T
G
G
A
G
G
G
C
G
G
C
A
5050
C
T
T
C
A
T
G
T
A
C
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
C
T
G
A
C
A
G
A
G
T
C
T
T
G
C
T
G
T
5100 |
REPEAT
G
T
C
T
C
C
A
G
G
C
T
G
G
A
G
A
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
5150
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
5200
T
T
A
C
A
G
G
C
G
C
G
T
A
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
5250
T
T
G
T
A
T
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
A
G
T
T
T
C
A
T
C
G
T
G
T
T
G
G
C
C
A
G
G
A
T
G
G
T
C
T
5300
C
G
A
T
C
T
C
T
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
5350
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
G
C
C
C
A
G
C
C
T
T
C
A
T
G
T
A
C
T
C
T
T
G
T
G
T
G
G
A
A
5400
T
G
G
T
G
C
C
T
G
C
C
A
G
A
G
T
T
G
C
A
T
A
G
C
C
C
A
G
C
A
G
T
T
T
T
G
G
T
T
C
T
A
A
A
C
C
T
T
A
T
5450
G
T
C
C
C
A
A
G
A
A
T
T
T
T
G
A
C
T
C
A
A
A
C
T
T
T
G
G
A
A
C
A
T
G
A
T
T
T
G
T
C
A
G
G
T
G
T
G
G
A
5500
T
T
C
T
T
G
C
A
C
C
T
T
A
A
A
A
T
T
G
T
C
A
C
T
A
G
T
T
G
G
T
G
T
G
T
C
T
G
G
C
C
T
G
C
T
T
T
G
T
G
5550
A
T
T
A
T
G
A
A
A
C
T
T
C
C
C
A
C
A
A
G
T
A
C
T
C
T
A
A
G
G
G
A
T
G
A
G
T
C
T
C
T
A
C
T
A
C
A
G
C
C
5600
C
T
T
G
T
T
C
T
T
T
G
T
G
A
G
G
C
A
T
T
C
C
C
T
T
C
C
C
C
G
T
T
C
C
A
G
G
G
C
T
G
C
T
C
T
C
G
G
T
G
5650
T
T
T
A
G
C
A
G
A
G
G
C
A
C
C
C
T
C
C
A
T
CGCTTCTTC CTTTCCTTGC AGGGCAAATT
5700
TTCTGACGGG GAAAGTCTCT TAAAGGGGCT TCTGTTCCAT CTCACCAGCC
5750
TCTCAGGTCC TTACTTTGAC CAAGGGTTCC CT
G
GAAAGAC CAGGGTGGGC
5800 |
var(5783):[A:0.01]
AGTGTCAGCT GGCTGTGGCC ATGAGATGCC CAGTCAGCAC ATGGCAGTGA
5850
GCCCTGGGGT ACTGGCCCTG TTGGGAGTAA CCCATGCATG ACTTGTTTGG
5900
CTGAGATAAA CTGAGGCCAG CTTTGGCTTC CAGCAGCTGG TACATGGTAG
5950
GCACACTTCA GACCTGCTGA GTCACTCAGG ATTGGA
T
GTA GGCACCCAGC
6000 |
var(5987):[G:0.02]
CTAGTTTGAA GTTCTGCATA TAATTCAGCC AGCTAGGACA GAGACATTGT
6050
TTCAATACGC CTTTTTAACT GTAGCAGATT TCCATGTTTA TGTGTTAACC
6100
TGCTCGGTTA AAACCATGCC TTGTCTGTTT T
G
C
C
T
T
G
T
C
T
G
T
T
T
T
CCCTT
6150 |
var(6132):[:0.09]
GCCGTTTTAG
A
A
T
C
A
C
G
G
T
C
A
C
T
T
T
C
A
A
C
A
T
T
A
A
C
A
A
C
A
G
C
A
T
C
C
C
A
C
C
A
6200 | Exon 3
I T V T F N I N N S I P P 141
A
C
A
T
T
T
G
A
T
G
G
T
G
A
G
G
A
G
G
A
A
C
C
C
T
C
G
C
A
A
G
G
G
C
A
G
A
A
G
G
T
T
G
A
A
G
A
A
C
A
6250
T F D G E E E P S Q G Q K V E E Q 158
G
G
A
G
GTAAGC TAATACTATA ATCAGCTTTT ACCTCAGTTC TGACAGGCTG
6300
E 159
TGCCTGGGGC TTAGAGGAGG AGCGTTTTTC TTTGGTCTTT CAAAAAAAAA
6350
AAATTCCTCT AAGTCCAGTC GCA
T
G
G
C
T
C
A
C
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
T
6400 |
REPEAT
T
G
G
G
A
G
G
C
C
G
A
G
A
C
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
A
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
6450
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
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
6500
G
C
A
T
G
G
T
G
G
C
A
G
G
T
C
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
6550
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
G
G
T
G
A
G
C
C
A
A
G
A
T
C
A
C
A
C
6600
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
6650
A
A
A
A
A
A
A
A
A
A
A
A
GAGAGAGA GAATGGCAGG GGCATAAGAG ACTTTAACTG
6700
GATCATGCCT ACTCTTCAAA CATTTCAGGA AGTGCTGTGC CCAGCCTAGT
6750
AACCAGCCAG TATGAGGGCC ACAGAGTCCC TAGACATTCT GCCCAAGAGC
6800
CATCAGTACA GTGTTGGGTC ATGACCTGGT GTGGACGGCG CAGCTCTCTG
6850
GTGTGCTGCT TTCCCAGCCA CCCCAACTAG CATCTCCCTG ACGTTGGACC
6900
CAGTCTGCTC CCAGAGCTCC GCATCAGAGG AAAAGCTGCT GCTGTTATTC
6950
AGC
C
ATAAGG ATGGCCAGGT TCCCCAGCCT TTGACCCTGG TCCCTTATGA
7000 |
var(6954):[T:0.01]
A
G
A
C
T
C
C
T
G
G
A
A
C
A
G
T
C
A
A
G
C
T
G
G
A
A
A
G
A
G
A
T
C
T
T
G
A
A
A
C
T
T
T
A
G
G
A
A
A
G
7050 |
REPEAT
C
T
T
T
G
C
A
G
T
G
T
A
C
G
G
G
T
G
G
A
G
G
A
A
A
A
G
G
C
T
T
G
G
A
A
T
G
T
T
A
A
G
G
G
A
C
T
G
A
T
7100
A
T
A
A
A
C
T
C
A
G
T
T
A
A
T
T
G
G
C
A
C
A
T
A
G
C
T
G
A
G
G
C
T
G
G
T
A
T
C
C
A
C
A
T
T
T
C
T
T
A
7150
A
C
T
G
A
A
A
A
C
C
C
A
G
T
G
T
G
T
T
A
T
T
T
AACCAAG CAGGGTGCCA ACAGAAGTGA
7200
GATCAAGCTC TTCATTTGGG AATAGTATGG CATAAGACTA TTCAAATGGC
7250
TACATAATAT CCTAATAGTG GTGGCCATCA GACACTCTGA ACAGAGATCC
7300
TTGATCCAG
C
CATCCATCTC CTTCCAGCAG CAGCATGTAT TGACTTCTTG
7350 |
var(7310):[G:0.08]
TTTCCCCAG
C
C
T
G
A
A
C
T
G
A
C
A
T
C
A
A
C
T
C
C
C
A
A
T
T
T
C
G
T
G
G
T
T
G
A
A
G
T
T
A
T
7400 | Exon 4
P E L T S T P N F V V E V I 173
A
A
A
G
A
A
T
G
A
T
G
A
T
G
G
C
A
A
G
A
A
G
G
C
C
C
T
T
G
T
G
T
T
G
G
A
C
T
G
T
C
A
T
T
A
T
C
C
A
G
7450
K N D D G K K A L V L D C H Y P 189
A
G
G
A
T
G
A
G
GT ATGCAGGATG GAGTGCTAGC CTCTTGGCAC CCCTGGGGAA
7500
E D E 192
CAGTGTGTCC CTTGGGAACT TCCTGTCCCT ATTTTAGCAG AAATTTAAAC
7550
ACTTTTCTAG CTTAGACCAG CCCAGCAGGG GGAGAGAGGT GGGGAGTGAG
7600
GGAAGAGGGT TAAAACCTGA TGAGTTTCAT GCTGTCAGTG GCCCCCTTTC
7650
TTCCC
C
TGAG TCTAGCTTGT CCTGGAGAAC CCTTCAGTTT CCCAATATTG
7700 |
var(7656):[A:0.09]
TTTCTTCTCA G
G
T
T
G
G
A
C
A
A
G
A
A
G
A
C
G
A
G
G
C
T
G
A
G
A
G
T
G
A
C
A
T
C
T
T
C
T
C
T
7750 | Exon 5
V G Q E D E A E S D I F S 205
A
T
C
A
G
G
G
A
A
G
T
T
A
G
C
T
T
T
C
A
G
T
C
C
A
C
T
G
G
C
G
A
G
T
C
T
G
A
A
T
G
G
A
A
G
G
A
T
A
C
7800
I R E V S F Q S T G E S E W K D T 222
T
A
A
T
T
A
T
A
C
A
C
T
C
A
A
C
A
C
A
G
A
T
T
C
C
T
T
G
G
A
C
T
G
G
GTGAGT GCTTGATAAG
7850
N Y T L N T D S L D W 233
GT
G
GGGGAAC CTTTTGGGCC TTGGAAGGAA GGGTCCTAGT TCAAGGGGAG
7900 |
var(7853):[T:0.09]
AAAAAAGCAT TTTAATGTTC ATTACAGATT TTTTTTTAAC TAGTAAATAT
7950
TGTTCTTTGC AG
G
C
C
T
T
A
T
A
T
G
A
C
C
A
C
C
T
A
A
T
G
G
A
T
T
T
C
C
T
T
G
C
C
G
A
C
C
G
8000 | Exon 6
A L Y D H L M D F L A D R 246
A
G
G
G
G
T
G
G
A
C
A
A
C
A
C
T
T
T
T
G
C
A
G
A
T
G
A
G
C
T
G
G
T
G
G
A
G
C
T
C
A
G
C
A
C
A
G
C
C
C
8050
G V D N T F A D E L V E L S T A 262
T
G
G
A
G
C
A
C
C
A
G
G
A
G
T
A
C
A
T
T
A
C
T
T
T
T
C
T
T
G
A
A
G
A
C
C
T
C
A
A
G
A
G
T
T
T
T
G
T
C
8100
L E H Q E Y I T F L E D L K S F V 279
A
A
G
A
G
C
C
A
G
T
A
G
A
G
C
A
G
A
C
A
G
A
T
G
C
T
G
A
A
A
G
C
C
A
T
A
G
T
T
T
C
A
T
G
G
C
A
G
G
C
8150 |
UTR
K S Q 282
T
T
T
G
G
C
C
A
G
T
G
A
A
C
A
A
A
T
C
C
T
A
C
T
C
T
G
A
A
G
C
T
A
G
A
C
A
T
G
T
G
C
T
T
T
G
A
A
A
T
8200
G
A
T
T
A
T
C
A
T
C
C
T
A
A
T
A
T
C
A
T
G
G
G
G
G
A
A
A
A
A
A
A
T
A
C
C
A
A
A
T
T
T
A
A
A
T
T
A
T
A
8250 |
var(8232):[:0.98]
|
var(8238):[G:0.09]
T
G
T
T
T
T
G
T
G
T
T
C
T
C
A
T
T
T
A
T
T
A
T
C
A
T
T
T
T
T
T
T
C
T
G
T
A
C
A
A
A
T
C
T
A
T
T
A
T
T
8300 |
var(8260):[C:0.09]
T
C
T
A
G
A
T
T
T
T
T
G
T
A
T
A
A
C
A
T
G
A
T
A
G
A
C
A
T
A
A
A
A
T
T
G
G
T
T
T
A
T
C
T
C
C
T
C
C
A
8350
AGGCAGTTTG TCTTTTTCTA TTCCTCCCCC TTCAACCTG
C
GTCACAAAAG
8400 |
var(8390):[T:0.09]
ACCAAGAACA GATGTCGGAA AAGTTTTTTT TTCTTCAGTA TTGTTTAAAA
8450
GTTTCAATAC AAAATAAGTT ATAAATAAAA GGCTTGTATG TACAAGGCTC
8500
C
T
C
A
G
A
G
G
G
A
A
T
G
A
G
T
T
G
T
C
T
T
C
A
A
C
C
C
C
A
T
A
G
A
A
T
G
A
T
G
T
G
A
G
T
C
C
A
A
G
8550 |
NOT SCANNED
C
T
G
G
C
T
C
T
A
G
A
G
G
A
T
C
A
C
A
G
C
C
C
A
A
G
T
A
T
C
A
C
A
G
G
C
C
T
A
G
G
T
T
T
A
A
A
C
A
G
8600
G
A
A
A
A
T
A
A
T
T
A
G
C
T
T
A
A
A
T
T
G
T
A
T
T
C
T
A
G
T
C
A
T
G
A
A
A
G
A
T
A
T
C
T
G
A
T
A
A
A
8650
A
G
T
T
G
T
A
A
T
C
A
A
T
G
A
G
A
A
T
T
C
T
A
C
A
C
A
T
T
A
G
A
T
G
A
G
G
T
C
T
C
C
T
G
A
G
T
C
C
A
8700
G
T
T
T
C
A
A
T
T
A
G
T
T
C
A
G
T
A
G
T
G
T
A
G
T
T
T
G
T
C
A
T
G
A
T
G
A
C
C
G
C
C
C
C
T
C
T
T
T
G
8750
G
C
A
T
T
G
C
T
G
G
A
C
C
T
C
T
G
T
C
C
T
G
C
A
G
C
C
T
T
C
A
A
A
C
A
A
C
T
G
C
C
C
T
G
G
G
A
A
C
C
8800
A
T
C
A
G
C
A
T
C
A
A
T
A
G
T
C
T
T
C
A
A
G
C
T
A
A
G
A
T
C
A
A
A
T
C
C
T
G
T
A
G
A
T
G
A
A
C
T
A
A
8850
T
C
A
A
A
C
A
T
C
C
T
C
A
C
C
A
T
C
A
G
G
A
A
A
C
C
A
C
T
G
A
C
C
A
G
A
A
A
G
A
T
T
G
T
A
T
T
C
A
A
8900
A
C
T
C
T
T
G
A
T
A
G
C
C
T
G
G
A
G
C
T
T
T
T
A
G
A
G
C
C
C
A
G
C
A
G
G
A
A
G
A
T
G
A
G
A
C
T
C
C
A
8950
A
A
T
C
T
A
C
A
C
A
A
G
A
T
T
G
A
A
G
C
A
G
G
T
A
T
G
T
A
T
C
A
T
A
G
G
G
G
A
G
G
T
G
C
A
A
A
C
C
A
9000
T
G
C
A
T
G
A
T
C
A
G
T
A
C
G
G
G
C
A
G
A
A
A
A
C
A
T
G
T
A
A
A
G
A
C
A
T
G
A
T
C
A
G
T
A
A
G
C
A
C
9050
C
T
G
A
G
T
G
T
A
A
A
A
C
T
G
C
C
T
C
C
C
G
A
C
T
C
C
T
G
G
G
T
G
G
C
T
C
A
G
C
C
T
C
T
C
C
A
C
T
A
9100
T
G
C
T
A
A
G
G
A
A
T
C
C
A
G
T
C
T
G
T
C
C
T
T
A
A
C
C
C
A
T
T
T
A
T
G
C
C
A
G
A
G
G
T
T
G
C
A
A
A
9150 |
REPEAT
T
T
T
T
T
T
T
G
T
G
T
G
A
A
A
A
A
T
C
A
G
A
C
C
T
T
G
G
C
G
A
T
G
A
C
C
T
T
G
A
G
C
A
G
T
A
G
G
G
G
9200
A
T
C
A
A
T
A
A
C
T
C
C
C
A
C
A
G
G
C
T
T
A
G
C
G
T
T
C
C
A
A
T
A
A
T
T
A
A
A
C
A
G
T
A
G
G
C
A
T
A
9250
A
G
T
G
G
G
T
T
A
C
T
C
T
T
G
T
T
T
C
T
T
A
C
C
A
C
T
T
C
C
A
C
A
G
G
T
A
A
T
A
T
G
T
T
T
G
G
C
T
T
9300
T
C
T
C
T
A
A
A
A
G
A
C
A
C
T
G
T
A
A
C
T
C
T
G
C
T
A
A
T
A
G
G
C
G
G
T
T
T
G
G
C
A
T
A
T
T
C
C
A
T
9350
C
C
C
A
G
G
A
C
C
A
C
C
A
C
T
T
G
A
G
C
A
C
C
G
C
C
A
C
A
T
C
C
G
A
A
A
C
A
T
T
C
C
T
C
G
T
C
T
T
G
9400
T
G
A
T
A
G
A
G
T
G
C
A
A
T
C
T
T
C
T
G
T
A
A
C
C
C
A
C
C
C
C
T
A
T
C
T
T
T
C
A
A
C
A
C
A
T
C
C
T
C
9450
A
G
C
C
A
T
C
T
G
T
C
C
T
G
A
G
C
G
T
C
C
C
T
A
C
G
T
C
C
T
G
A
C
C
T
C
A
C
T
G
G
A
T
T
C
T
A
A
C
A
9500
C
A
A
T
G
G
T
C
C
T
T
G
A
T
T
C
C
C
C
C
T
T
A
A
G
T
G
A
A
A
A
C
C
A
A
A
G
G
T
C
T
A
G
T
G
G
A
A
C
T
9550
A
G
A
G
C
A
T
T
C
C
A
A
A
T
G
T
C
T
A
C
C
T
T
T
C
C
A
A
A
T
G
T
T
G
A
A
C
T
C
A
A
G
A
C
C
T
A
C
A
G
9600
A
A
T
A
C
A
A
T
T
T
T
G
T
C
T
T
T
C
C
C
C
C
T
C
C
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
G
G
C
A
C
9650 |
REPEAT
A
A
T
C
T
C
G
C
T
G
T
C
A
C
C
C
A
G
C
C
T
G
G
A
G
C
G
C
A
A
T
G
G
C
G
C
C
C
T
C
T
C
A
G
C
T
C
A
C
T
9700
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
A
G
C
T
C
A
A
G
C
C
A
T
C
C
T
C
C
C
A
C
T
T
C
A
G
C
C
T
T
C
C
G
A
9750
G
T
A
G
C
T
G
G
G
A
G
T
A
C
A
G
G
T
G
C
G
A
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
C
T
G
T
A
T
T
9800
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
T
T
C
C
9850
T
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
T
C
C
T
A
A
A
T
G
C
T
G
G
G
G
T
T
A
C
A
9900
G
G
T
G
T
G
A
A
C
C
A
C
A
G
T
G
C
C
T
G
G
C
T
G
T
G
T
T
T
C
T
C
A
T
A
T
T
T
G
C
T
G
T
G
A
C
C
C
C
C
9950
A
C
C
T
C
C
C
C
T
C
A
C
T
T
A
C
C
C
A
A
C
A
A
T
G
G
T
C
T
T
C
C
T
G
C
C
C
A
C
C
C
C
A
G
A
G
C
C
G
G
10000
C
A
C
T
G
T
C
A
A
C
T
A
T
G
A
T
C
T
C
C
A
A
G
A
C
T
G
C
T
G
C
A
C
A
G
C
A
C
T
C
A
C
CTTCCAAA
10050
CCTCACCTCC TACTTAGCTT CACTGCTGCT CTGAGCCACA GGGCACTGAC
10100
GGTTAGGTGA GTGGATAACT GGGGTCCATA ACAATTATAT GCTGAGCTGA
10150
AGCTGTACAC TTGGCAATTA GGCCATCTTC CACTTACCTT TTAATTCCCC
10200
TTCTC
T
TCCC CC
G
ACCAGCA TTTTGTCTTT CACACTCAAG GGGACTTTCA
10250 |
var(10206):[A:0.01]
|
var(10213):[C:0.03]
TACTCAAGGA G
C
TGTAGACT CCAGCTCTGC TACCATTATA ATCTGTGTGG
10300 |
var(10262):[G:0.02]
ATGACTCACT GTTCACCTTA