PROZ 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
TGTGTATGTC CCTGTCTGCC TTTCCATTTT TAGGCAGCTA ATTGATGGTT
50
TTTAAACTAT CCAGCAGAAG TATTTTTAAT GTAAATTTCC ATGTGGGAAT
100
ACATTTTCAC ACAAAAAAAG GCACCTTTTC TTAAGTGAAG GCCACGTAGA
150
TTGCCAGGCT GGTGCAATTC ACCCAAGAGC TATCCTATAC AATCAACTTC
200
TGGCTTTCAA ATTATTTTAA CTCACTCACT AAAGATAAAC TTTATTTTCT
250
TTTCCCAGCT TTTTAAAGCA AAC
T
TCACAA CTTCAGTGTA TTTGCGGGCA
300 |
var(274):[G:0.03]
TGCCCTCTTA ATCAAGGGTG TCAGCTTCTT AGTTTTCTTC TGTTCCCACT
350
TTAACAAAAT TGTATTTAGA ATCCTTTCAT TGAGTTTTGC CACCTTT
G
AG
400 |
var(398):[A:0.02]
TGTCATTCAA TCG
A
A
C
A
A
T
A
T
C
T
A
T
A
T
G
C
T
G
A
C
A
A
T
G
C
T
G
T
C
A
T
T
T
C
A
T
C
450 |
REPEAT
T
G
T
T
A
C
C
A
C
C
T
G
A
A
T
C
T
C
C
A
C
T
G
T
G
A
G
T
C
C
C
A
G
C
T
T
C
T
C
G
G
A
T
G
C
C
C
A
C
T
500
C
C
T
G
T
C
T
C
C
A
C
C
T
G
G
A
C
A
T
C
C
C
A
C
A
G
A
C
A
C
C
T
C
A
A
A
T
T
T
G
C
C
A
A
A
C
C
T
C
G
550
C
T
T
C
C
C
T
C
T
G
C
C
C
T
C
C
T
G
G
A
G
C
T
T
G
G
C
C
G
T
C
T
C
A
G
C
A
C
A
C
G
C
A
C
T
G
C
C
A
T
600 |
var(557):[C:0.03]
C
C
T
C
C
C
A
A
T
C
G
C
T
C
A
G
C
C
C
A
A
A
C
C
T
T
G
G
A
G
C
C
G
T
G
C
T
G
C
C
C
G
A
C
A
C
A
A
T
T
650 |
var(643):[G:0.01]
C
A
T
C
A
T
G
A
A
T
C
C
C
A
T
C
A
G
C
T
T
T
C
C
C
T
T
C
C
T
G
A
A
G
C
A
T
C
C
A
G
A
C
T
G
C
A
A
A
C
700
G
T
G
C
T
T
C
C
T
G
C
T
G
C
A
T
G
G
C
T
G
C
A
C
C
C
T
C
A
C
C
C
C
C
T
C
C
T
G
G
A
C
T
A
G
C
C
G
G
C
750 |
var(737):[T:0.03]
A
G
C
C
T
C
C
C
T
T
T
T
G
A
C
T
T
C
T
C
T
G
G
A
A
T
G
T
T
C
T
G
T
T
C
T
C
C
A
C
A
C
A
G
C
A
G
C
C
C
800
A
G
T
G
A
T
C
C
C
T
T
C
A
G
A
G
C
A
C
A
A
A
T
C
T
T
T
C
C
A
T
G
T
C
A
A
T
T
C
C
T
G
T
T
C
C
C
T
C
C
850
A
A
T
A
T
C
T
T
C
C
C
A
A
C
A
C
A
G
T
G
A
A
A
A
T
G
A
A
A
C
A
C
C
A
G
G
T
T
C
T
T
A
C
C
T
C
A
G
G
C
900
T
T
C
A
A
G
G
GC
T
G
A
T
A
T
G
G
T
T
T
G
G
C
T
G
T
G
T
C
C
C
C
A
C
C
G
A
A
A
T
C
T
T
A
T
C
T
T
G
A
950 |
REPEAT
|
var(911):[A:0.01]
A
T
T
G
T
A
A
T
C
C
C
C
A
T
A
G
T
C
C
C
C
A
C
G
T
G
T
C
C
T
G
G
G
A
G
G
G
A
C
C
C
G
G
T
G
G
G
A
G
G
1000
T
A
A
T
T
G
A
A
T
C
A
T
G
G
G
G
G
T
G
G
T
T
T
C
C
A
C
C
A
T
G
C
T
G
T
T
C
T
T
G
G
G
A
T
A
G
T
G
A
G
1050 |
var(1034):[A:0.11]
T
G
A
G
T
C
T
C
A
A
G
A
G
A
T
T
T
G
A
T
G
G
T
T
T
T
A
T
A
A
G
G
A
T
C
T
G
G
C
A
T
T
T
C
C
C
C
T
G
C
1100
T
T
C
A
G
T
C
A
T
T
C
T
C
T
C
T
G
C
T
G
C
C
A
C
C
C
T
G
T
G
A
A
G
A
G
G
T
G
C
C
T
T
C
T
G
C
C
A
T
A
1150
A
T
T
A
T
A
A
G
T
T
T
C
C
T
G
A
G
G
C
C
T
C
C
C
C
A
G
C
C
A
T
G
T
G
G
A
A
C
T
G
G
G
A
G
T
C
A
A
C
T
1200
A
A
A
C
C
T
C
T
T
T
T
C
T
T
A
A
A
T
T
A
C
C
C
A
G
T
C
T
T
G
G
C
T
A
T
T
T
C
T
T
C
A
T
A
A
C
A
G
T
G
1250
T
A
A
G
A
A
G
G
G
A
C
T
A
A
T
A
C
A
CA GGGCCTACAT CTGAAAG
C
A
G
C
A
A
A
C
G
A
C
A
A
1300 |
REPEAT
C
C
C
T
G
G
G
G
C
C
A
A
A
T
C
T
G
G
C
C
C
C
T
T
A
A
T
A
G
C
T
C
T
T
A
T
A
A
A
T
A
A
A
G
C
T
T
T
A
T
1350
T
G
G
C
A
C
A
C
A
G
C
C
A
A
G
T
G
T
T
C
A
T
T
C
A
T
G
A
T
T
G
T
C
T
A
T
G
C
T
G
C
C
T
C
T
G
C
T
A
C
1400
A
A
T
G
G
T
G
C
T
G
A
G
C
T
G
T
A
G
T
G
A
C
A
G
A
C
A
C
T
A
T
T
T
G
G
C
C
C
TT CCCCGCTTTC
1450
TCCCTCCTCC CTCCCTCCCT TCCTTTTCTC CCCTTCCTTC TTTCCATCCT
1500
CCTGCTTTCC CTCCCTCACT CCCTCCTGTC TCTTTCCCTC GTTCTTTTCT
1550
GTGTATTC
C
A CACACACCTA GAACGTAAGC TGCATGTGAC TTTGTCTGTC
1600 |
var(1559):[T:0.01]
CCGCCCAGTG CTGTGTCCCC AGGGCCTATC TCACCTCCA
T
TGACCACACA
1650 |
var(1640):[C:0.01]
CGGGCATGGG TGCCACCTTC CACCTTGCAC CTGCTGCCTT TACCTTCTGT
1700
TCTCTGTCTC CCTAAATATC TCCCAGGGTC CTCTGAGCCT TCACCGTTCA
1750
TTTCTCTGCC TGGCCTCAAA CAGAAAACGT CAGGAGGGAA GCACACAGCT
1800
GCACAGGTCG TGCCCC
G
AGG CTCCTGCTGC CGGCACCTCC CCCAGCCTGG
1850 |
var(1817):[A:0.02]
ACTTTGGCTG TGTTTGTAGC CCTGTCCCAG C
A
CTCCG
G
G
T
G
G
G
A
A
T
G
G
C
A
1900 |
var(1882):[G:0.20]
| Exon 1 |
UTR
M A 2
G
G
C
T
G
C
G
T
C
C
C
A
C
T
G
C
T
C
C
A
G
G
G
C
C
T
G
G
T
C
C
T
G
G
T
C
C
T
C
G
C
C
C
T
C
C
A
T
C
G
1950
G C V P L L Q G L V L V L A L H R 19
T
G
T
G
G
A
G
C
C
C
T
C
A
G
GTAGGC ATCTGGCTTA
C
CT
G
TCTGTT GTGCCTGTGC
2000 |
var(1981):[T:0.01]
|
var(1984):[A:0.02]
V E P S 23
TGTGTCTTTC TTGACTCGGT CCATGGTGGA TTTGTAGATG AGGCTTTTTC
2050
CAGGAGCCAG AGGAGCCCTG AGTGCCCAGA CTAGTCTTAA TTCCCCTGAA
2100
AAAGCTGTTT GGATCTTTAT CATTTGGTGA CAAGTATTTG GGACATGATA
2150
GTGTCACTTG GGGTCCTCCC AAGAGATGCC CAAATGG
A
AA GAAGCCTGTG
2200 |
var(2188):[G:0.14]
TGCAGGGGAT TCAGCCGGG
A
AAGGCCGGGG AGAGGGGAGG
G
GGAAAGGGG
2250 |
var(2220):[T:0.01]
|
var(2241):[A:0.13]
GAGGAGTGGG GG
G
AGGCCTG GGTTGGGCAT TGGACGAGGG GAGGGGGTGG
2300 |
var(2263):[T:0.02]
GGCAGGCTGA GCCCAGACTG CAATGTGGGC AGAGAGAGCC TTGGCCAGGC
2350
CAGCCAGGAA TGCCCAGTCT TGAGTCAGGA GACATAGCCA GGGAGCAGCC
2400
ACCCTGCCTG CCTGCCACCC TTCTACCACC AGCCACTTCA CTGAAGGAAC
2450
GACATGGACT CCATTCTGAC TCTGCCTGCA CAGGCGTCCA GGAAAGCTGC
2500
AAGTCAAAAC ACCCAGCATC CCCGCTGGCC CCATGGTCTC CCGCTGGCCC
2550
CATGGTCTCC CACCCTGAGA GGGTGATCCC CCCGCCCTG
C
CCTGCCCAGC
2600 |
var(2590):[T:0.01]
ACTTACCGTA GCCGGACTTA GCTGAGCCCC C
C
CTGCTGTA ACCCTCAGCA
2650 |
var(2632):[T:0.01]
CCGAGAGAAA
A
GGAGGGAGG ATGGGAAGGG CCTGGGCTTT GACCCTCCCG
2700 |
var(2661):[G:0.01]
GAGAGGGAGA GAACATGCTT TGGGACCCTC AGGTGGGAAG AGGCTCCAGA
2750
GACCACTGCC GCGGGTCAAC TC
A
TTTGCCT TCTCCTCCTG GAAATCGCAG
2800 |
var(2773):[G:0.19]
AGCCTGCTGC AATGTATAAG TTTCTTCTTT ATGTGTTTTA TCAAGATGTT
2850
AAATGCTGCG CACAGAGGCA GCACAGGAGC TGATGGCTCT TGGTCCCCAG
2900
TTCTCAGTAC GGGGACCTTT GACCCCAGCT CAGCCTTCCT TCGCACTCAG
2950
ACCCAAAACC CAGTTGGAGC CCTCCCTCCT CCACTTTCCT GACTGAGGCC
3000
CGTGGCCTCT CTGCAGAACC TTAGTGTATC CGCACTGATC CTGGGGCTGA
3050
TCCATTCGCC CAGAGGATGA AGTGCTTGCC TACCTCGGGG GAGGGAGTAG
3100
CGGGGTGGCC CTGAGGCCCT CGCAGGCTGA GAGCCTGTGG AGAC
G
GACGG
3150 |
var(3145):[A:0.13]
GGCTGGGGCT GGCGGCC
G
GC CGGGGAGGAA GCCAGGCAGC TCTGGAAAGC
3200 |
var(3168):[A:0.01]
AGGGCCCTCG GTGCTCCCAG TCACCTGCCT TCTTGTCTCG TCTGTAG
T
A
T
3250 | Exon 2
V 24
T
T
C
T
C
C
C
G
G
C
C
T
C
C
A
A
A
G
C
A
A
A
C
G
A
C
G
T
T
C
T
G
G
T
G
A
G
G
T
G
G
A
A
G
C
G
T
G
C
G
3300
F L P A S K A N D V L V R W K R A 41
G
G
C
T
C
C
T
A
T
C
T
T
C
T
G
G
A
A
G
A
A
C
T
C
T
T
C
G
A
G
G
G
A
A
A
C
T
T
G
G
A
A
A
A
A
G
A
A
T
G
3350
G S Y L L E E L F E G N L E K E C 58
T
T
A
T
G
A
A
G
A
A
A
T
C
T
G
T
G
T
C
T
A
T
G
A
A
G
A
A
G
C
A
A
G
A
G
A
A
G
T
G
T
T
T
G
A
A
A
A
T
G
3400 |
var(3385):[A:0.01]
Y E E I C V Y E E A R E V F E N 74
A
A
G
T
A
G
T
C
A
C
T
GTATGTACC C
C
CACCACAA ACCACAGGCC TCCTCATTAT
3450 |
var(3422):[G:0.02]
E V V T 78
TTAGACTTCT GCTGGCCCAG GGAGCATCAT TTCTCAGAGA TTAAGCTTAA
3500
TTAATTAGCC
C
TATTTACTT A
C
C
G
A
T
G
A
G
G
T
T
G
A
C
A
C
A
A
T
C
C
C
A
G
T
T
T
T
A
3550 |
var(3511):[-:0.86]
|
REPEAT
C
A
G
A
T
G
A
G
G
A
A
A
C
AATTTAG AGAATCGACT TAATCCACCT TTCCCTACAG
3600
CAGTGAGTGG GGCTGGAAGT CAGCTCAGAG CCCACTGGAC TCATTTCTTC
3650
AGGTCAGGCA AGGCCCACAC ACTGATCAGA CACCCAGCAT ACATTTTCTT
3700
TCTAGGCTTC AAGTCTGAAT AATTCTCCTA ATTTTAGATA CTCCTACCCC
3750
AAACTAAG
C
G TCCCCACTCC CTACAGAGGT ATATATCTTT AAAATTCAAC
3800 |
var(3759):[T:0.07]
TCGGTTTATA AAAAG
C
GAAA AGGTGATGTG ACTTCTATAT CATGTGCTTT
3850 |
var(3816):[T:0.01]
TGTGGAGGGT GGCGTGGAGA TTGGCCCTAG AAGGGAAGGG CCACGTTAGG
3900
GGCTGTGGGT GGTGGGTTTG TGCCATGTCA TAGACTCTGG CCTTCCTCAA
3950
ATAGGTGGTG GTAAGCACAT GTTGAGTAAT ATATCTTACA GATACATTTA
4000
GTTACTATAC ATTTAACATA AACAAATAGG CTGTAAAACA GGAAAATTGT
4050
GCATTGTTTC AACCACTATT GTCCTATTAA GTGAATAAAA TCAACATTTT
4100
CTTACCTTCA AGTTCATCTA
C
AGGAAAGAA TATAGAAAAA CAAATATCCC
4150 |
var(4121):[T:0.20]
ATTTGTAA
C
A TTTTTATGTT TTAACTCTAA AG
G
A
T
G
A
A
T
T
C
T
G
G
A
G
A
C
G
A
4200 |
var(4159):[T:0.01]
| Exon 3
D E F W R R 84
T
A
T
A
A
G
G
GTA AGTGGTTTCC TTCGTCTCCT CAGAAGTATT AATTCCT
C
GG
4250 |
var(4203):[C:0.01]
|
var(4248):[T:0.01]
Y K 86
GATGA
G
GTGC GTGGGTGGGC TTAGGACGCT TCACGACCCC AGCTCAGCGG
4300 |
var(4256):[A:0.01]
ATGCCAAGCC TCTGGCTCCA GGACCCACGG TGTCTCTCCA GGGAAGGGCA
4350
GCTCCGACTC TCCCCAAGGA CCAGGTCAGG AAGCCCCCGG GCTCTGCCAC
4400
CAGGGCCACA GGCAGTGCCT GGTTTGTCTT GCCCAGTGTC TGGGTAGTTT
4450
CTTGGCACTC TGGGACATGG GCCACAGGCC AGGAGGGCCC CCCCAGAGCA
4500
GCTCCTCCAG CCGCCTGGCT CCTGGGCTCC TGGGAAGCCT CATGCTGCAG
4550
CAGGGTCAGA ACTCGTCTCA AATTTTGGAA AGTCATGGCC CCGATGGAGA
4600
CTTTGGTTAG GAGACTCTCC CAAGGGAGGA GCTCTAGGTG GGCAACTGCA
4650
GAAGAGCATG GGACAG
A
AGT AACACAGATG GAGACCCACG GGGCTGGGG
G
4700 |
var(4667):[G:0.01]
|
NOT SCANNED
A
G
G
C
C
A
G
G
G
G
T
A
A
G
G
A
C
C
C
A
C
C
T
G
G
G
A
A
T
G
A
G
T
A
A
G
C
A
A
A
G
A
G
C
T
G
C
A
G
C
4750
C
A
C
C
A
C
C
A
G
A
C
A
A
G
C
A
C
G
G
G
G
A
C
A
A
C
T
G
G
G
C
A
C
A
G
A
A
G
G
A
A
G
C
G
G
G
A
G
A
G
4800
G
C
A
G
G
G
A
A
G
G
C
C
G
G
A
G
A
A
G
G
G
C
T
G
A
T
G
G
G
G
C
G
G
G
A
C
A
G
A
G
G
G
G
A
C
C
G
C
G
T
4850
G
C
G
G
A
C
G
A
A
G
A
A
A
G
G
G
C
A
C
C
C
A
G
C
A
G
A
G
T
G
G
G
A
G
G
C
A
C
T
G
G
C
A
G
C
C
A
G
G
C
4900
C
T
T
A
C
A
T
C
C
G
G
A
G
C
G
G
G
G
A
G
C
G
T
C
C
T
G
G
G
G
G
C
C
A
G
G
C
G
A
T
G
G
C
A
T
G
G
G
G
A
4950
G
C
A
G
C
A
T
G
A
G
C
A
G
G
C
T
C
A
G
T
C
C
C
C
A
T
T
C
C
T
G
C
C
A
C
C
C
C
C
T
G
C
C
C
C
C
C
C
G
T
5000
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
T
C
A
C
A
T
C
C
T
C
C
T
C
C
5050
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
C
C
C
C
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
5100
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
5150
C
C
T
G
C
C
A
C
C
T
C
C
C
C
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
5200
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
T
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
T
C
A
C
5250
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
5300
C
C
T
G
C
T
C
A
G
G
T
C
C
T
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
5350
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
5400
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
5450
A
C
G
T
C
C
C
C
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
5500
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
C
C
C
C
A
C
A
T
C
C
T
C
5550
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
5600
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
5650
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
5700
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
5750
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
5800
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
C
C
C
C
T
C
A
T
C
C
T
C
C
T
C
C
T
G
5850
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
T
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
5900
C
C
C
G
T
C
C
C
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
5950
T
G
C
C
A
C
C
T
C
C
C
C
A
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
C
A
C
G
T
6000
C
C
C
C
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
T
C
C
A
C
T
C
T
G
T
C
C
T
6050
C
C
T
C
C
T
G
C
T
C
T
G
G
T
C
C
C
T
G
T
T
C
C
T
G
T
C
A
C
C
C
C
A
C
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
6100
T
G
C
T
C
A
G
G
T
C
C
C
C
G
T
C
C
C
T
G
C
T
G
C
C
A
C
C
C
C
C
C
A
C
T
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
6150
T
C
A
G
G
T
C
C
C
C
A
T
T
C
C
T
G
T
C
A
C
C
A
C
C
C
C
C
A
C
C
C
T
C
C
T
C
C
T
G
C
T
C
A
G
G
T
C
C
C
6200
C
G
T
T
C
C
T
G
T
C
A
C
C
A
C
C
A
C
C
C
C
A
A
C
C
C
C
C
A
T
C
C
T
C
C
T
C
C
T
G
C
A
G
G
C
G
G
C
T
C
6250 | Exon 4
G G S 89
C
C
C
G
T
G
C
A
T
C
T
C
C
C
A
G
C
C
C
T
G
C
C
T
C
C
A
C
A
A
C
G
G
C
T
C
T
T
G
C
C
A
G
G
A
C
A
G
C
A
6300
P C I S Q P C L H N G S C Q D S 105
T
C
T
G
G
G
G
C
T
A
C
A
C
C
T
G
C
A
C
C
T
G
C
T
C
C
C
C
C
G
G
C
T
A
T
G
A
G
G
G
C
A
G
C
A
A
C
T
G
C
6350
I W G Y T C T C S P G Y E G S N C 122
G
A
G
C
T
G
G
G
T
G
A
G
G
C
C
C
C
G
G
C
C
G
T
C
C
C
C
T
T
C
C
C
C
C
A
A
G
G
G
C
C
T
C
C
C
T
G
G
G
C
6400
E L 124
A
G
G
T
G
G
G
C
C
T
C
A
C
A
T
C
C
T
C
G
G
C
C
A
G
A
G
T
C
C
C
A
A
T
G
G
G
C
C
C
C
T
C
C
T
G
A
G
G
T
6450
G
T
A
G
C
C
A
T
G
A
A
G
G
T
G
C
C
T
G
T
G
T
G
A
A
C
C
G
C
G
A
T
T
T
G
G
C
T
C
A
C
C
C
C
A
G
G
G
G
A
6500
T
T
C
C
T
C
T
C
A
T
C
C
C
A
A
C
C
A
G
A
T
T
C
T
C
C
T
C
C
A
G
A
A
A
C
C
A
C
G
C
C
G
G
G
G
G
C
T
G
G
6550
C
T
G
C
A
T
T
C
T
G
A
G
C
T
G
C
C
C
C
T
T
C
C
A
G
A
C
A
G
G
C
C
C
C
C
A
T
A
C
T
T
T
T
C
A
T
A
G
C
A
6600
GGGGCCCCTC TCCTCCCCCC
C
CCACCTCAA CCATTCACAA TCTGCTCACA
6650 |
var(6621):[A:0.09]
GGCTGGGGGG GTCACACACA G
G
CGTCCTCA
G
TGCCAGACT CCCAGTGGGA
6700 |
var(6672):[T:0.01]
|
var(6681):[C:0.01]
GACTGCAGAC AGGGAAGACG CAAAGCACGT AA
A
CAAATAT CCTTAAATAC
6750 |
var(6733):[G:0.01]
CCGCCAAATG TCAGTGTCCA TCATCGCCAA CTACAGCAAC AAGCGTGCTC
6800
CGCTCTCAGC ACCACTGGTC AACTTGGAGC CCGTTTCTCT GGGGAAAACC
6850
TTCCTC
C
C
A
G
C
C
G
A
G
C
C
C
T
C
T
C
C
T
C
C
G
A
A
G
T
C
C
A
G
A
T
T
T
C
T
G
C
T
C
C
A
T
C
T
6900 |
REPEAT
G
C
C
T
C
C
T
T
G
A
T
G
C
C
C
C
A
G
C
T
A
A
T
G
C
C
T
T
C
A
C
A
G
A
C
A
C
C
C
C
A
A
A
T
T
T
A
C
C
A
6950
C
G
T
A
C
C
A
A
A
G
G
G
G
G
C
T
T
T
G
A
C
C
T
T
C
A
C
C
C
A
C
C
A
T
G
T
G
C
C
C
C
T
T
T
C
T
T
A
A
T
7000
C
T
T
C
T
C
C
C
T
C
T
T
G
G
T
G
G
A
A
A
G
C
C
C
C
C
A
T
C
C
C
A
G
C
T
G
C
T
C
A
G
CCACCACC
G
7050 |
NOT SCANNED
A
T
G
T
C
A
C
A
C
T
A
A
C
C
C
C
C
T
C
C
C
A
T
C
C
C
A
C
G
T
C
C
C
C
T
C
C
T
T
G
A
A
G
A
A
G
C
A
G
C
7100
A
A
T
T
T
A
A
A
G
G
G
A
A
T
A
G
C
C
A
A
T
G
C
A
A
G
C
C
G
G
C
A
G
A
C
A
A
A
A
C
A
G
G
C
G
C
G
T
G
G
7150
A
T
T
A
G
T
C
C
A
T
G
T
G
G
A
A
A
A
A
G
G
A
C
A
A
A
T
A
G
A
A
G
T
G
T
C
A
T
C
A
C
T
C
A
T
G
G
A
G
T
7200
C
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
T
T
T
T
T
A
T
T
T
T
A
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
7250 |
REPEAT
G
T
C
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
A
C
G
C
G
A
T
G
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
T
T
T
7300
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
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
A
C
T
G
G
G
7350 |
var(7339):[T:0.01]
A
C
T
A
C
A
G
G
C
A
C
G
C
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
7400
G
A
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
T
T
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
7450 |
var(7434):[C:0.01]
G
A
T
C
C
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
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
7500
C
C
G
C
G
C
C
C
G
G
C
C
TCACTCAC GGAGTCTTTG TTCTACATGC ACATTCCTGA
7550 |
var(7503):[A:0.01]
AATACGGACA TGTGGGAAAC ACTGACACAG AGGACAACGA TCTGAAGAGA
7600
ATGAGAACAC ATGGACCAAC ACACCAGA
T
C TCTTGTGTGC AAGGCTGTGA
7650 |
var(7629):[A:0.35]
TAAAATGAAC ATGGACCAAC ACACAGAACT GTGTGCAAGG CTGTGATAAA
7700
ATGACTATTT CCAAGCTAGC ATTTCCTTTT TTTTTTTT
C
C CTTTTCAG
C
T
7750 |
var(7739):[T:0.09]
| Exon 5
A 125
A
A
A
A
A
T
G
A
A
T
G
T
C
A
C
C
C
A
G
A
G
C
G
G
A
C
T
G
A
T
G
G
G
T
G
T
C
A
A
C
A
C
T
T
C
T
G
C
C
T
7800
K N E C H P E R T D G C Q H F C L 142
C
C
C
A
G
G
A
C
A
G
G
A
A
T
C
C
T
A
C
A
C
G
T
G
C
A
G
C
T
G
T
G
C
T
C
A
G
G
G
C
T
A
C
A
G
G
C
T
T
G
7850 |
var(7822):[A:0.09]
P G Q E S Y T C S C A Q G Y R L 158
G
T
G
A
G
G
A
C
C
A
C
A
A
A
C
A
G
T
G
T
G
T
G
C
C
C
C
A
C
G
GTGAGTGCTC AGACCACAGC
7900
G E D H K Q C V P H 168
GGCCTCCAGC TTCCAATGCC AGC
G
ACCCCG
T
CCACATCCT CCTTCCTTCT
7950 |
var(7924):[A:0.02]
|
var(7931):[A:0.16]
GTAGTACTGG GTGAAGCCCG CGGATTTGTG ATAAGCAGTT GCCACGACTC
8000
AGAAGGTGGT CCGCGTCTCC ACGCTGGAGC AATGGCCATG CTAGAAAGTG
8050
CAGTTTCTGT CACTAGTGCT TGCTCGGAC
C
ACTCTGAGCT AAACCATGAG
8100 |
var(8080):[T:0.02]
TGCTGTGAGG GGTGGTTTAA CTCCAGTCTG TGTGTCTGTG AATTACTGCA
8150
CATTCATCAG CATTAAGGAT AAGATTATAA TGGTTAGTAC CATAGACGGA
8200
ATTATGCAAC GGTTAACACC ATAGACAGAG TCCGATATTC GCTGAGAAGG
8250
CG
C
TGATTTT TATTCTCATG TTGCTGCCGC AAATGCAG
A
C
C
A
G
T
G
T
G
C
C
T
8300 |
var(8253):[T:0.02]
| Exon 6
D Q C A 172
G
C
G
G
G
G
T
G
C
T
G
A
C
C
T
C
T
G
A
G
A
A
G
C
G
T
G
C
A
C
C
G
G
A
T
C
T
A
C
A
G
G
A
C
C
T
C
C
C
G
8350
C G V L T S E K R A P D L Q D L P 189
T
G
G
C
A
G
GTAA CAGAGCGCTC TCCGCGTGCT TCAATTTATT GTTATGACTT
8400
W Q 191
TCACCTCACT TGTCATTTCC TAAATAGAAA TGTT
G
ACAAC TAAGTGAATC
8450 |
var(8435):[A:0.18]
AGGCATCCTG ACTTTGATGG GCTACTGACT GCACTGACCA ACCTCTATTC
8500
ACACTTCCAA CCATGTTCTA ATGCCGAGTT CATAACTAAT ACAAAAGGA
C
8550 |
var(8550):[G:0.01]
AGCATTATTT ACAGCCCCCA AGACCTTTCC TCTGCAGTTC CAAACTGTTA
8600
CCAATGTCAT TTTCTCAGAA CATAAGCATC TCAAAATCTC TGCTCTC
G
GC
8650 |
var(8648):[A:0.01]
TGCTGGCCTG GCATTCTAGC TTTGTTACTT TGTTCACTAA ATTTCTCTAG
8700
TTTGGC
A
TTC ATTTTTGTTC TCCTTTTCCC CTCCTTGGCT GGTTTAGAAG
8750 |
var(8707):[G:0.02]
TTAACCATTC A
T
T
T
G
T
T
T
T
T
G
G
T
T
T
G
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
A
A
T
8800 |
REPEAT
C
T
G
T
C
A
C
C
C
A
G
C
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
C
C
A
G
T
C
C
C
G
G
C
T
C
A
C
A
G
C
A
A
C
C
T
8850 |
var(8843):[T:0.27]
C
T
G
C
C
T
C
C
T
G
G
G
C
A
C
A
A
G
C
G
C
T
T
T
C
C
C
T
G
C
C
T
C
C
A
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
8900 |
var(8870):[A:0.13]
G
G
A
T
T
A
C
A
G
G
A
A
T
G
T
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
G
A
T
T
T
T
T
A
T
A
T
T
T
T
T
A
G
T
A
8950
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
A
C
A
G
G
A
T
G
G
T
C
T
C
G
A
A
T
G
C
C
T
G
A
C
C
T
C
9000
A
A
G
T
G
A
C
C
C
A
C
C
T
G
C
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
G
T
G
A
9050
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
C
TCAT CATTCACTTT CTGTTTACTT AATGGTCACT
9100 |
var(9058):[T:0.20]
CTTGACACAT AAACATCCAT ATTTAGCACA AGTAGTCAGC TATTTCTCCC
9150
TCCTCAGGCT AATTCCCAGC ACCTCATTCT GGGTCCATTT GCTGTCTGGC
9200
CAGTATTTTA TTCTTTTCTT GCTTTCTGTA TATCTTCACA AAATAGATAT
9250
TACGATTTTT GTTATTATGG TTTTATACCA CCCACACTGG CTTTGATTTA
9300
CTTACCTCAT TTTCCACTTT CCTTGCCTTT CAGGCCTCTA ACACAATTAT
9350
CTCCTGCCTG AGTATATCCT TCAGAA
C
A
G
C
C
T
T
G
T
C
C
A
A
T
A
G
A
A
A
T
G
C
A
G
9400 |
REPEAT
T
G
T
A
A
A
C
C
A
C
A
T
A
A
T
T
T
A
A
A
A
T
T
T
T
C
T
A
G
T
A
G
C
C
A
C
A
A
T
A
A
T
G
T
A
A
G
T
A
A
9450
A
A
G
C
A
T
G
T
G
A
A
A
T
T
T
G
G
A
T
A
T
T
T
A
A
C
C
C
A
A
T
A
T
G
T
G
T
C
A
T
T
A
T
T
T
C
C
C
C
A
9500
T
G
T
A
A
T
G
A
A
T
A
T
A
A
A
C
A
T
T
A
T
T
G
A
G
G
T
T
A
T
T
T
G
C
C
T
T
T
T
T
C
C
T
T
T
A
C
A
C
T
9550
G
A
A
T
C
T
T
T
G
G
A
A
T
C
T
G
G
T
G
T
G
A
A
T
T
T
A
C
A
C
T
GAGGTGCAG CCCTCGTGTC
9600
C
A
CAATGCTC CGTACCCGAG TGTGGCTGCC GTGTGGATGG CACAGCCTCA
9650 |
var(9602):[C:0.02]
GGGGCCCCCC TTGTGAGTAA TAAGCCCCTG AGGTTTCTGT GTGTGACACC
9700
CGTCAGTTTC ACCCGACTCT TACAAGACAG CTGTGCCCAG CCCACTCATT
9750
CTGGCAGTTG TGTGGACTGG CAGAGAACAG GATGGAGCTC AAGGACTTGA
9800
AGCCACCCAG CTCCAAGGTG GA
G
AGGAAGA AACCGAAGGG AGGCAAAGCA
9850 |
var(9823):[A:0.03]
GACGGAGTGA TGGAAGGCGG GGATGGAAGC GGGAATGGTC TATCACCAGC
9900
TTTGCAAACT TCCTCTCAAT CTTTTATCAC TTTTCCTGCC CAAGCTTTCT
9950
AAGACAGTTC TTCCTATCGC TGTCTG
C
CCC ATGAGTGCGC TGAGGGTCGG
10000 |
var(9977):[A:0.04]
TACTTGGGAG GCCCAGAGTG CAGTGGTCCT CCATAGGTAG TGACAGGGTC
10050
TGGCTCTACC ACCTGCAGGC TGTCTCCAGC TTCCCAGCTT ACCCAAGGGA
10100
AGAGAGGG
C
G CGGTTCTAGT CTGCAACCGT AGCACTCATA CCAGCAAGGC
10150 |
var(10109):[T:0.13]
TAAGAGCCAT ATAACCAGGG AGGAGGCATT CTCTAAACAC AGCTGGTGTG
10200
TTTAAGACAG AGGACACTGA CTTAGGCAGG CTACATACTA TTAGATTTTT
10250
TACTTCAGTA TTATAAATTG TTCTGAAGTT ATTTAACTGA ATATATGGAA
10300
TTTTCCTAAA ACAAACTTTG AAAAGGAGAA TAATTAAGTG ACCTAGCAGG
10350
A
C
ATAGGGTT GAAGATTATC TTTAGAACTT CCTTGTTTCT TACATCCT
A
G
10400 |
var(10352):[T:0.22]
|
var(10399):[C:0.20]
GGAAGAAGTA TCACTAAAAG TCTGGCAGAC TGATGGCGCA AGTGCCGTCT
10450
TCTCTCGAAC TTGGTTTTAT CCCCTTTAAA GTGAGGATCT CACCCCTAGA
10500
GGTGCAGTGA GGATTACAG
A
TAACGTTCTT GACTTATGGT AGGTATTCAA
10550 |
var(10520):[G:0.16]
CAAGTGGCAG CTATTATTCA TAAACACATG AAGAGTTCCA GGAACGACGC
10600
CACGGTAAAG TTGGAAAAAC ACTTTCTCAC TTGGCTCAGC ATTTTGCATT
10650
AGACGGTTGA AAACTGCAAC ACTTAACACT TCCAGAGCCA GTACCCGT
G
C
10700 |
var(10699):[A:0.20]
TATGTGGG
C
A CATGCTTTAT TTCATTTAAT CTTTCAAACA ACTTCTCGTT
10750 |
var(10709):[G:0.20]
TTC
T
C
C
T
T
T
T
G
T
A
T
C
C
C
T
G
G
T
A
A
T
A
T
T
A
T
T
T
G
C
T
C
T
A
A
A
A
T
C
C
C
C
T
T
T
G
T
10800 |
REPEAT
C
T
G
A
T
A
T
T
G
A
T
A
T
A
G
A
C
A
C
T
T
T
A
C
T
T
T
C
T
A
A
T
T
A
T
T
A
G
T
G
T
T
A
G
C
A
T
G
A
C
10850 |
var(10815):[C:0.02]
|
var(10818):[T:0.02]
T
T
A
T
C
T
T
T
T
T
C
C
A
A
T
C
T
T
C
T
A
C
T
T
T
T
A
G
C
C
T
A
T
T
T
G
T
A
T
T
T
T
T
A
T
A
A
A
G
T
10900
G
C
A
T
G
T
T
T
A
A
A
A
A
A
T
A
A
A
T
A
A
G
G
T
A
C
A
T
G
T
T
T
T
A
T
A
G
G
T
A
G
T
A
T
A
T
A
A
T
T
10950
G
G
C
T
T
T
C
A
T
T
T
T
T
A
T
C
C
A
G
T
G
T
G
A
A
A
A
A
C
C
T
C
T
G
C
C
T
T
T
T
A
A
T
T
G
G
G
G
T
A
11000
T
T
T
A
G
G
C
C
A
T
T
T
T
A
C
A
T
T
T
A
T
T
G
T
A
A
T
T
G
T
C
G
A
T
A
T
G
T
T
T
A
C
G
G
T
T
A
A
A
G
11050
C
T
A
T
C
A
T
C
T
T
G
C
T
A
T
C
T
T
T
T
A
T
T
T
T
T
C
T
T
A
T
C
T
G
T
T
C
T
T
T
T
C
C
C
C
T
T
T
T
T
11100 |
var(11060):[:0.61]
|
var(11070):[C:0.01]
C
T
G
C
C
T
T
C
T
G
T
T
A
G
A
T
T
A
A
C
T
A
T
A
T
A
T
T
G
T
T
A
T
G
A
T
T
C
T
G
T
T
T
T
C
T
C
T
C
C
11150
T
T
T
G
T
T
G
G
T
T
T
A
T
C
A
T
C
T
C
T
G
G
T
T
C
T
T
T
G
T
T
G
G
C
G
G
T
T
G
C
T
T
C
A
C
A
G
T
T
T
11200
G
G
A
G
A
A
T
G
C
A
T
C
T
T
T
A
C
C
C
T
A
T
C
A
C
A
G
T
C
C
A
C
T
C
C
A
C
T
T
T
C
G
C
C
G
A
C
G
C
C
11250
A
C
A
T
C
C
G
C
T
C
G
C
T
G
T
A
G
C
A
T
G
A
G
T
C
C
T
T
A
C
A
G
C
A
A
T
C
A
T
G
C
C
C
C
A
T
T
C
C
T
11300
C
C
C
C
T
C
C
T
G
A
C
C
T
G
G
G
T
G
C
T
G
G
T
T
T
T
G
G
C
A
T
A
G
G
T
C
T
T
A
C
A
T
C
T
A
C
A
G
A
T
11350
G
T
T
A
T
A
A
A
T
G
C
C
A
C
T
C
T
A
T
A
C
T
T
C
C
A
T
T
A
T
T
T
T
T
G
T
T
T
A
A
A
C
A
G
T
A
T
C
C
T
11400 |
var(11400):[G:0.04]
G
T
G
A
A
G
A
A
G
T
T
T
A
A
A
G
A
A
T
A
A
G
G
A
A
A
A
A
A
A
C
C
T
T
A
C
A
T
A
T
A
T
A
G
T
G
G
A
A
T
11450 |
var(11403):[A:0.37]
|
var(11406):[A:0.01]
G
C
G
G
A
T
A
A
A
T
A
T
T
T
A
A
T
G
G
G
A
T
G
T
C
A
T
A
A
C
C
T
T
T
T
C
C
A
G
T
G
T
T
C
C
T
T
G
C
T
11500 |
var(11452):[T:0.15]
G
C
T
T
T
G
T
G
T
A
G
A
T
C
C
A
G
G
C
C
T
C
C
C
T
C
T
G
G
T
A
T
C
G
T
T
T
T
C
C
T
C
C
T
G
C
C
T
A
A
11550 |
var(11511):[A:0.16]
A
G
G
G
C
C
C
C
T
T
T
G
A
T
A
T
C
T
G
C
T
G
T
G
C
T
G
T
G
A
G
G
C
G
T
C
T
G
G
G
G
A
A
G
A
A
G
C
C
T
11600
T
C
T
T
G
C
G
T
T
T
G
T
C
T
G
G
A
G
G
A
G
T
C
T
T
T
G
T
T
C
A
T
C
T
T
C
A
T
C
T
A
T
G
A
A
A
G
G
C
A
11650
T
T
G
C
G
T
C
T
G
G
C
G
C
A
G
A
G
C
C
C
C
A
G
G
C
T
G
G
C
A
G
CAGTCCTCT CCTCTCTGCA
11700
CTTGGGCC
T
G
C
C
C
C
A
C
T
G
C
C
T
T
C
C
T
G
T
C
T
G
C
C
T
T
G
T
G
C
C
A
C
A
A
G
A
C
G
G
C
T
11750 |
REPEAT
C
C
C
A
T
C
A
C
C
C
T
G
C
T
G
C
T
G
T
T
C
C
T
C
A
C
A
T
G
T
C
C
T
T
A
C
C
T
G
T
G
G
C
A
C
T
T
T
T
A
11800
A
G
A
T
T
T
T
A
A
A
T
G
C
T
T
T
T
T
A
A
T
T
T
T
A
A
C
T
T
T
C
T
A
A
G
A
T
T
T
C
C
T
C
T
A
T
C
A
T
G
11850
G
A
T
T
T
T
G
A
A
T
T
T
A
A
T
T
A
T
A
C
T
G
T
G
T
A
T
T
G
T
T
T
T
C
A
T
G
T
T
T
C
T
T
G
C
A
C
A
T
A
11900 |
var(11872):[C:0.20]
G
G
G
T
T
T
G
T
T
G
A
G
A
T
T
C
T
T
G
T
A
T
T
T
G
T
G
G
G
C
T
A
A
T
A
T
C
G
C
T
T
G
T
C
A
A
A
T
T
T
11950
G
A
A
A
A
A
T
A
T
T
T
G
G
T
C
A
T
A
A
T
T
T
T
C
T
T
T
T
T
T
T
T
G
A
G
A
C
C
G
G
G
T
C
T
C
G
C
C
C
T
12000 |
REPEAT
A
T
T
G
C
C
T
G
G
G
C
T
G
G
A
G
T
G
T
A
G
T
G
G
T
G
T
G
A
T
C
A
T
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
12050
A
C
C
T
C
C
T
G
G
G
T
T
C
A
G
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
G
T
C
T
T
G
A
G
T
A
G
C
T
G
G
G
12100
A
C
C
A
T
A
G
G
T
G
T
G
C
A
C
G
A
C
C
A
C
A
C
A
C
A
G
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
C
A
T
G
T
A
G
A
12150 |
var(12108):[T:0.16]
|
var(12125):[G:0.01]
G
A
T
G
G
G
G
T
C
T
T
G
C
T
A
T
G
T
T
G
C
T
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
12200
G
C
A
A
T
C
C
T
T
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
12250 |
var(12219):[A:0.01]
C
A
C
C
A
T
G
C
C
T
G
G
C
C
C
A
T
T
A
T
T
T
T
C
A
G
A
T
T
T
T
T
T
T
T
C
T
C
T
C
C
T
C
C
T
T
C
T
C
C
12300 |
REPEAT
C
T
G
C
T
C
T
G
T
T
T
T
G
G
G
A
C
T
C
T
A
A
T
T
A
C
A
T
G
T
A
T
C
T
T
A
A
G
C
T
G
T
T
T
G
A
A
A
T
C
12350
C
C
A
T
A
G
C
T
C
A
G
A
G
A
T
G
G
T
C
T
G
T
T
C
A
T
T
T
T
T
C
A
A
A
A
A
T
C
T
C
C
G
T
T
C
T
C
T
C
C
12400
G
T
G
T
T
T
T
A
C
T
T
T
T
G
A
T
A
G
T
T
T
C
T
G
T
T
G
T
G
A
T
G
C
C
T
T
C
A
A
G
G
T
C
A
T
C
A
A
T
C
12450
T
G
T
T
C
T
T
C
T
G
C
A
A
T
G
T
C
T
A
A
T
C
T
G
C
C
A
T
T
C
A
T
C
C
T
G
G
C
C
A
G
T
G
G
A
T
G
T
T
T
12500
A
A
C
C
T
C
A
T
A
T
A
T
T
G
T
A
G
C
T
G
T
C
A
T
C
C
A
A
A
A
A
T
T
T
A
A
T
T
T
A
G
G
T
T
T
T
T
A
A
A
12550
A
A
T
A
C
G
T
A
T
T
T
T
T
G
T
C
T
C
T
A
C
T
T
A
A
C
T
T
T
T
T
G
A
A
C
A
T
T
T
G
G
A
C
T
A
C
A
G
T
T
12600
A
C
A
A
T
C
A
C
T
G
T
T
T
A
A
T
T
G
T
C
C
T
T
G
T
C
T
A
C
T
A
A
T
A
T
C
T
G
T
C
A
G
T
G
C
T
G
A
C
T
12650
C
A
G
T
T
T
T
G
G
G
A
T
A
T
T
T
T
T
C
T
T
C
T
C
A
T
T
A
T
G
G
G
T
C
A
C
A
T
T
T
T
C
C
T
G
T
T
T
G
T
12700
A
T
G
C
C
G
T
A
A
T
G
G
A
T
T
T
C
C
A
G
A
C
A
T
G
T
G
A
A
T
T
T
T
A
T
C
C
T
G
T
T
A
G
G
T
G
C
T
G
A
12750 |
var(12744):[A:0.01]
A
T
A
T
T
T
T
G
T
G
C
T
C
T
A
T
A
C
A
T
A
C
A
C
T
T
G
G
A
T
A
T
T
G
T
C
C
T
A
G
G
A
C
A
C
A
G
T
T
A
12800
G
G
T
T
G
G
A
A
A
T
A
C
T
T
T
C
A
T
C
C
T
T
T
G
G
C
A
C
A
T
T
G
C
T
C
T
T
A
A
G
A
T
T
T
G
T
C
A
G
T
12850
A
G
G
A
C
C
A
G
G
G
C
A
G
C
G
C
T
C
A
A
G
T
C
T
A
G
A
G
C
T
A
G
T
T
A
T
T
C
T
G
A
C
T
A
C
T
G
A
A
G
12900
T
G
A
A
C
C
C
T
T
C
T
A
T
G
C
A
T
C
C
T
G
C
C
C
C
G
T
G
C
C
C
C
A
C
T
G
A
G
T
C
A
G
G
G
A
T
G
T
T
T
12950 |
var(12918):[T:0.01]
T
A
A
C
T
C
A
G
C
T
G
G
T
G
G
A
A
G
C
A
A
T
T
G
C
T
A
T
T
C
C
C
A
G
C
T
T
G
T
G
T
G
A
G
T
G
T
C
T
A
13000 |
var(12954):[T:0.01]
G
C
A
C
A
G
G
T
C
C
C
T
C
T
C
A
C
A
C
T
C
T
T
G
G
G
T
G
G
T
T
C
T
T
A
C
C
C
G
G
C
C
A
T
A
A
T
T
A
G
13050 |
var(13011):[G:0.15]
|
var(13038):[T:0.01]
T
C
T
C
C
A
C
G
T
A
C
A
C
G
T
G
A
T
C
A
C
C
A
C
T
G
C
T
C
T
G
C
T
G
A
A
A
A
C
T
G
C
T
A
G
G
C
A
T
G
13100
T
G
G
C
C
A
T
C
C
T
C
C
A
G
C
A
T
T
C
T
C
T
A
C
C
A
A
G
C
T
C
T
C
T
C
C
T
C
T
G
C
C
G
G
A
C
T
C
T
G
13150
T
T
C
T
G
C
A
G
G
A
C
T
C
T
G
T
T
C
T
G
C
A
A
A
C
T
C
C
A
G
C
C
A
C
T
G
C
G
G
C
C
T
C
C
C
T
G
G
G
C
13200 |
var(13187):[T:0.36]
T
C
T
C
A
G
C
T
T
T
C
T
C
T
C
T
T
C
A
A
T
T
T
A
G
G
G
A
G
T
C
A
G
C
A
G
G
G
C
T
C
C
A
A
C
T
G
A
G
A
13250 |
var(13235):[G:0.21]
T
G
C
C
C
C
G
T
C
C
T
G
C
T
C
T
G
C
A
C
C
A
T
G
G
A
A
A
T
T
C
T
G
G
A
C
A
G
T
A
G
C
T
G
A
G
A
C
C
G
13300
T
T
G
T
T
T
C
T
T
G
G
G
G
A
T
T
A
C
G
A
T
T
C
C
T
G
A
A
A
A
C
C
A
T
C
A
T
T
C
C
A
T
A
G
A
T
T
T
T
G
13350
T
C
A
A
T
T
T
T
T
T
G
C
T
T
C
A
G
G
T
G
G
G
A
G
G
G
T
A
A
A
T
C
T
G
A
T
C
A
C
T
G
T
T
A
C
T
T
C
A
C
13400
C
T
G
G
G
C
C
G
A
A
A
G
G
G
G
A
A
G
T
G CCGGCCCCAT TTAATCCCTA AGCAAACAAA
13450
AGCTTAGACT GTCA
A
CAAT
T
CGTTAACAAT CCTGTACCAT TTGAGTGCTG
13500 |
var(13465):[T:0.01]
|
var(13470):[C:0.01]
GGGCAAGAAT CAAATACGGC TGTCTGCCTT TGGCGGGGGG TGGGGGTGGG
13550
GGTGGGGGGG TGGTCCATAT CCCTATCCAG TAGACTTTAC TGCCCCTAAT
13600
CCTGCAAATT GTCACCAGCT ATTTATTGTC TGTTTTGATT TTTAAAG
G
T
A
13650 | Exon 7
V 192
A
A
G
T
T
A
A
C
A
A
A
T
T
C
C
G
A
A
G
G
A
A
A
A
G
A
C
T
T
C
T
G
T
G
G
T
G
G
T
G
T
T
A
T
A
A
T
A
C
G
13700
K L T N S E G K D F C G G V I I R 209
G
G
A
A
A
A
T
T
T
T
G
T
A
C
T
G
A
C
A
A
C
A
G
C
A
A
A
A
T
G
T
T
C
A
C
T
G
T
T
A
C
A
C
A
G
G
A
A
T
A
13750
E N F V L T T A K C S L L H R N 225
T
T
A
C
T
G
T
A
A
A
A
A
C
A
T
GTAAG TATTTTATCA TGAGTTTTTA TAAAACCACA
13800
I T V K T 230
TTGGAAATAC ACTATCCTA
T
GTAAGAATGA AATGA
C
AAAT TTAAAACTGG
13850 |
var(13820):[C:0.02]
|
var(13836):[T:0.01]
ACTGTTTCTA ATGCAACATA GAACTGAATT TACTGTCAAT AAAACTGAGA
13900
TACTTATCAA CTCAGGAAGC ATATGTAAAA TACCAGCAGA AGCCTGGGCC
13950
CAGCGACAGG CAAGTGCTAA CTCACACTCG GCAAGGGAGG AAATCACAGC
14000
CTACATAAGG ATGACTTCAT TTCCCACTGA AATTGAGCAG TTGTGGCATA
14050
AGAGATGGAT AATTGGCTAA AAATCGGAAG AATGGGGCTC GAATCCCCCA
14100
GCAGTTGAGA CCTCAGGCTG AGGCAGTGGC CTTCTCATCG GCTTATCTGT
14150
GCCTA
T
T
T
C
T
T
T
C
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
A
C
T
C
A
A
T
C
C
C
T
C
14200 |
REPEAT
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
C
A
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
14250
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
A
T
G
C
C
T
C
A
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
14300
G
C
A
T
G
C
A
C
C
A
C
C
A
T
A
T
C
C
C
A
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
A
A
T
G
G
G
14350
G
T
T
T
T
G
C
T
A
T
G
T
T
G
G
A
A
A
A
G
C
T
G
G
T
C
T
T
T
A
C
T
C
C
T
G
G
C
C
T
T
A
A
G
T
G
A
T
C
G
14400
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
G
A
A
G
C
G
C
T
G
G
G
A
T
T
A
C
A
G
A
T
G
T
G
A
G
C
C
A
C
T
G
T
G
14450 |
var(14428):[T:0.01]
C
C
T
G
G
C
C
CTT AAATATTTTT CAATCAACAA AATAACGTGA AAACCACTTC
14500
TCAACAGCCA ATGTTTGACT G
G
CCTGGAGA CGTTCCACAT CACTGCTTCC
14550 |
var(14522):[T:0.21]
TGCTTTTTAA TCATTTCACC ACACCCCACT GCACTCCAAA ACAGAAGAAC
14600
TAACCTTGAC TGTTTTTAAA GGCTGTGGCA CTTGGTTGCA ATCGTGCAAT
14650
CTGTGAGTGG CCTTTCTGTC CGCAGAAAGG C
A
CAGTGTCC ACACCACGGG
14700 |
var(14682):[C:0.01]
GCGGTGAGCC TGCGGGTCCT CCAGGGC
C
GG TCTCTCCCTC CTCACGTGGC
14750 |
var(14728):[T:0.01]
TCCCTGAG
A
A GCT
C
GTTTGA GCATTATGTC CCCTTGAAAA TCAGACTGTA
14800 |
var(14759):[C:0.01]
|
var(14764):[T:0.01]
AAGAACTGAC GATTGTTCAT GATTTCAG
A
T
T
T
T
A
A
C
A
G
A
A
C
G
A
G
C
C
A
A
G
A
14850 | Exon 8
Y F N R T S Q D 238
C
C
C
G
C
T
G
A
T
G
A
T
C
A
A
G
A
T
A
A
C
G
C
A
C
G
T
C
C
A
T
G
T
G
C
A
C
A
T
G
C
G
G
T
A
T
G
A
C
G
14900
P L M I K I T H V H V H M R Y D 254
C
G
G
A
C
G
C
G
G
G
G
G
A
G
A
A
T
G
A
C
C
T
G
T
C
A
C
T
G
C
T
G
G
A
G
C
T
G
G
A
G
T
G
G
C
C
C
A
T
C
14950
A D A G E N D L S L L E L E W P I 271
C
A
G
T
G
C
C
C
A
G
G
T
G
C
G
G
G
G
C
T
C
C
C
C
G
T
G
T
G
C
A
C
C
C
C
T
G
A
G
A
A
A
G
A
C
T
T
C
G
C
15000
Q C P G A G L P V C T P E K D F A 288
T
G
A
G
C
A
C
C
T
C
C
T
C
A
T
C
C
C
A
C
G
C
A
C
C
A
G
G
G
G
C
C
T
C
C
T
C
A
G
C
G
G
C
T
G
G
G
C
A
C
15050 |
var(15021):[A:0.02]
|
var(15040):[T:0.04]
E H L L I P R T R G L L S G W A 304
G
C
A
A
T
G
G
C
A
C
T
G
A
C
C
T
G
G
G
C
A
A
C
T
C
G
C
T
G
A
C
C
A
C
G
C
G
G
C
C
T
G
T
C
A
C
A
C
T
T
15100 |
var(15085):[A:0.01]
R N G T D L G N S L T T R P V T L 321
G
T
G
G
A
G
G
G
G
G
A
G
G
A
G
T
G
C
G
G
G
C
A
G
G
T
C
C
T
G
A
A
T
G
T
G
A
C
T
G
T
C
A
C
C
A
C
C
A
G
15150
V E G E E C G Q V L N V T V T T R 338
G
A
C
C
T
A
C
T
G
T
G
A
G
A
G
A
A
G
C
A
G
C
G
T
G
G
C
G
G
C
C
A
T
G
C
A
C
T
G
G
A
T
G
G
A
T
G
G
A
A
15200
T Y C E R S S V A A M H W M D G 354
G
T
G
T
G
G
T
C
A
C
C
A
G
A
G
A
A
C
A
C
A
G
A
G
G
C
T
C
C
T
G
G
T
T
T
C
T
C
A
C
G
G
G
G
G
T
C
C
T
G
15250
S V V T R E H R G S W F L T G V L 371
G
G
C
T
C
G
C
A
G
C
C
A
G
T
A
G
G
A
G
G
G
C
A
G
G
C
T
C
A
C
A
T
G
G
T
C
C
T
T
G
T
C
A
C
C
A
A
G
G
T
15300
G S Q P V G G Q A H M V L V T K V 388
C
T
C
C
A
G
G
T
A
C
T
C
A
C
T
C
T
G
G
T
T
T
A
A
A
C
A
G
A
T
C
A
T
G
A
A
C
T
A
A
C
T
G
A
A
A
C
T
C
A
15350 |
UTR
S R Y S L W F K Q I M N 400
G
C
T
A
G
C
C
A
G
A
A
T
G
A
A
C
A
A
C
A
C
A
A
C
C
G
G
A
A
G
C
G
G
G
A
T
T
C
C
A
A
G
C
T
G
G
C
A
C
T
15400 |
var(15375):[T:0.03]
G
C
C
A
C
T
G
T
G
G
A
G
G
G
C
G
C
T
G
A
A
A
C
T
T
C
A
T
C
A
C
A
C
A
C
T
G
A
G
A
G
G
C
C
G
T
C
A
C
A
15450
G
C
C
C
C
A
G
A
C
C
A
C
C
C
G
C
T
T
G
G
C
C
C
A
C
G
C
A
G
C
A
G
C
A
G
A
G
C
C
G
C
C
G
T
T
T
G
C
T
G
15500
G
G
T
T
G
T
T
T
A
C
C
G
A
G
C
A
C
T
G
T
G
A
C
C
T
T
T
C
T
T
T
C
C
C
T
G
G
A
A
C
T
C
T
T
T
A
T
C
T
C
15550
A
A
T
A
G
A
G
A
C
C
T
T
A
A
A
A
G
A
A
A
A
C
A
T
G
A
G
A
T
A
C
G
T
T
A
A
A
T
A
A
T
A
A
A
A
T
A
A
G
A
15600
T
A
A
T
C
T
G
T
C
A
G
T
C
A
T
AAAGC AGCCTGGTTT CCAGAAATTC TTTCCTTCTC
15650
CAAGTCCAGT GTTCCCTGTG CTCAGGGAAT AGCCACCCCA GCCTGCACAC
15700
TGGTGAGTGT GTTCTGGTGC AGAAGCGACA
A
CAATCTCCG GTTACAGCAG
15750 |
var(15731):[G:0.01]
AAAGTGACCT CCTCTGTTGG TTTACCAATT GCCACTGTGA CTGAGGACCA
15800
TGGCTCAGTG CAGAAGCAGC CACTAGAAGC AGGTTGGCAA TGGAGGAGAA
15850
TGACCCTGTG GGTATCCCAG AGAGGCAGCA TTAGAGGAAA GGGCCAGAGA
15900
GCACAAGAGA GGCTGAGGAG GCACGCCGGC GTCTCACGGG GTTGTGCACC
15950
CGCCCTTCTC TGGGAGGGTT CCCACGGAAG GTTCCGGGGC CCGAA
G
TCAG
16000 |
var(15996):[A:0.16]
GGCTGAGCAC TGAGACCCAG CTCTCTGCTC GTCCCACCAG GTGGCTCTTG
16050
GACAACTGTT CCACCTCTTC ATGCCTCAGG GTCGCCCAGG GTAGAATCCC
16100
AGCACCTCAC CAATGGGCTG ATGGGCAGCT AGGCAACGCC CAGCAC
T
G
T
T
16150 |
REPEAT
G
T
G
G
C
T
G
G
A
G
T
G
T
G
T
G
T
C
C
C
T
T
C
A
A
A
A
C
T
C
C
A
A
A
A
T
T
G
G
A
A
C
T
T
A
C
C
C
C
A
16200
A
G
A
T
G
A
T
G
A
T
A
T
G
G
G
G
A
G
G
T
G
G
G
G
C
C
C
T
T
G
G
G
A
G
G
T
G
A
C
T
A
G
G
C
C
A
T
G
A
G
16250
G
G
C
T
C
T
G
C
C
A
G
C
C
C
C
T
T
C
C
A
T
C
T
C
T
T
C
T
C
C
C
A
T
A
C
G
A
G
G
A
C
A
C
T
G
C
A
G
T
G
16300
A
G
G
T
G
C
T
A
C
C
C
T
G
G
A
G
A
C
A
G
A
G
A
G
C
C
C
T
C
A
G
C
A
G
A
C
A
C
C
A
A
A
T
C
T
G
C
C
G
G
16350
C
A
C
C
C
A
G
A
T
C
T
T
G
A
A
C
T
T
C
C
C
A
G
C
C
C
C
C
A
T
G
A
T
C
T
G
T
G
A
G
A
A
A
T
G
A
G
T
T
T
16400
C
T
G
T
T
A
T
C
A
C
C
C
A
G
T
C
C
A