BAK1 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
TCTATTGAGT TTTAATCTCC GTTTACTTGA CTATCACCTT CAGGATTTCA
50
AACATCCAGA GACCACCAAG GTGCATGGTG CACAGGTCTA AATTGCAGGT
100
TGAATCTCAA TCTAGTATTA GTATTCCCCA ATGCGACTAC AGAACTGATT
150
ATTACTA
T
T
T
A
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
A
C
T
G
T
C
A
C
C
A
G
G
G
C
T
200 |
REPEAT
|
var(170):[-:0.84]
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
A
A
T
C
C
T
G
G
T
T
T
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
250
C
A
A
G
G
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
T
C
C
A
A
C
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
300
C
G
C
C
A
C
C
A
C
A
C
C
C
A
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
C
G
G
G
G
T
T
T
C
350
A
C
C
A
T
G
T
T
A
G
C
C
A
G
A
A
T
G
G
T
C
T
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
T
G
C
400 |
var(354):[G:0.02]
|
var(374):[A:0.17]
|
var(384):[A:0.01]
C
T
C
A
G
C
C
T
C
C
C
A
A
G
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
T
G
G
C
450
C
CAGAACTGA TGA
T
T
A
A
C
C
C
A
G
C
T
G
A
G
C
C
T
C
T
G
T
T
C
A
T
C
T
G
A
A
T
G
G
G
T
A
T
500 |
REPEAT
|
var(473):[A:0.14]
T
G
T
C
A
A
C
A
G
C
A
C
T
C
A
C
T
T
A
C
A
A
G
A
G
T
T
G
C
T
G
A
G
A
A
G
A
T
C
C
A
A
T
G
A
G
A
C
A
A
550 |
var(517):[-:0.22]
A
T
A
G
T
T
G
C
T
A
A
A
G
T
G
C
C
A
G
G
C
A
T
G
C
A
G
C
A
G
T
G
C
T
T
A
A
G
A
A
A
CTTCTCACC
600
CTG
G
GTTTTT TATTGGTATT GATTGATGTA GAGGTGGGGG AGAAGATCAA
650 |
var(604):[A:0.01]
AGACAAGGAT TGAGAATCAG GGATGGGAAA AGCAGTGGGC CACTGACAGC
700
C
GCCCTGCCT GCCTGGGAGG TGGG
G
TGGGG AAAGTGGGCG GGACATGCTC
750 |
var(701):[T:0.02]
|
var(725):[T:0.01]
CTGG
G
CCTGG CCCACCCAGA TCACCC
C
TAC AGGCTGTCGG CCTGTGCGTC
800 |
var(755):[A:0.01]
|
var(777):[-:0.33]
TGCATCCGGT GGCCACAGAG CAACTTCCTC TAGAGGGAGC TGATTGGAGC
850
CGGGTGCCGC TGGCACCTCT ATGATCACTG GAGTCTCGCG GGTCCCTCGG
900
GCTGCACA
G
G
G
A
C
A
A
G
T
A
A
A
G
G
C
T
A
C
A
T
C
C
A
G
A
T
G
C
C
G
G
G
A
A
T
G
C
A
C
T
G
A
950 | Exon 1 |
UTR
C
G
C
C
C
A
T
T
C
C
T
G
G
A
A
A
C
T
G
G
G
C
T
C
C
C
A
C
T
C
A
G
C
C
C
C
T
G
G
G
A
G
C
A
G
C
A
G
C
C
1000
G
C
C
A
G
C
C
C
C
T
C
G
G
G
A
C
C
T
C
C
A
T
C
T
C
C
A
C
C
C
T
G
C
T
G
A
G
C
C
A
C
C
C
G
G
G
T
T
G
G
1050
G
C
C
A
G
G
A
T
C
C
C
G
G
C
A
G
GTAA GCTGGAAGGG TCTTGTCCAT CCTCCCAGAT
1100
CTCAGCAGCC CCAGCCCCAG GGTGGGGCAG GGAGCCTGCC GGGAGCCGGG
1150
TGGGGAAGGG GAAGCTCAAG GCTTCCCTGG GCAGGTCTGC CGCCCCGGCT
1200
GGGGACCTGA TCCTGCCATG CCTGCCTCTG GCTGCCCCTC ACAGCTTCCC
1250
CTCTTGGCCC AGCCCTGGAT GCCGGAGAAC TGTAAGAACT GGGTCCTTTA
1300
ACAGTCTGGG AGATGGGAGT GGAGGTCAGA GCCAAGGTCA AGGGCAGAGA
1350
GAGAACTTTC TCAGCGCTTG CTGCTGCCCA ACATCCCTAG ACTGGGTCCA
1400
GGGCCTGGCC AGGCATGTAT CCCTGGG
G
AA CATTCAT
C
GG GGCCCAGCAA
1450 |
var(1428):[C:0.48]
|
var(1438):[T:0.24]
GCCCAGGAAG TCGGGGGTGG CTCCCCTCAC CGGGAATTTA GGCCACTTGG
1500
ATGGGGGAGG CAGAGCTAGG CCTGAGTCAG CATAGGTTGC T
G
GCCTTGGT
1550 |
var(1542):[T:0.01]
GGGTGTTCTG AGGCTCTACC TGCTCCCCTC
G
GAAGCCTGG GGTGTTGGTA
1600 |
var(1581):[C:0.01]
GAGGGAGTTG GAGGTGCA
G
T CAGCATCCTC CAGCCCTACT GTCCTGGGGG
1650 |
var(1619):[A:0.04]
TGCCGGGTCC TGGAGACTGG GGAAGAAGGA AGGCCAT
C
TT ATGTAAGGAG
1700 |
var(1688):[T:0.01]
CTACGGGG
G
G TGGGAGGCAA GCAAAAC
T
C
T
T
T
T
T
T
T
T
T
G
T
T
T
T
T
T
G
A
A
A
T
1750 |
var(1709):[A:0.04]
|
REPEAT
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
T
C
G
G
C
T
1800
G
A
C
C
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
A
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
C
C
T
C
1850
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
A
C
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
1900 |
var(1873):[A:0.01]
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
T
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
1950 |
var(1938):[A:0.33]
C
T
T
C
T
G
A
C
C
T
C
G
T
G
GGCCAC TATGCCCGGC TGCAAAGTTC TGTTTTAACA
2000
AGGCCTTGCC CCTAGAGGTG GAGGAGAGGA
G
GGTCTGCCT TC
A
CCCTGTC
2050 |
var(2031):[A:0.33]
|
var(2043):[G:0.48]
CCTGTCCGGC AGATCGAGGA GGAGTGGGGA GCTGGGTGAG GGCACAGGTG
2100
GTCCAGCCCT CCTCCACCCC TTCTTGAGAG CTCTTGGGGC ACTTTCGAAA
2150
ACACTCCCAG GCCTAG
C
GGA AGGAGGGTGG GCGAAGGTCC CCAGGCCCTG
2200 |
var(2167):[T:0.01]
GGCGGTGGGG GTGGGGCTGT GTGCTTGGCC CAGGGTGGGG CTGCACACCC
2250
CCTCCCTCTG GGATAGGAGG AGGGCGCTCT CCTTCTGAGG GCTGGAGGCT
2300
GCCTGGGGAA ATGGGGCTCT GGGAGGG
G
TG CAAACTGAAA GTGAAACAGC
2350 |
var(2328):[A:0.01]
TGACATCCAG GAAACACTC
G
CCCTGATGAG GGGTCACAGC AGGTTGGGGC
2400 |
var(2370):[A:0.23]
TGCGGTCAGG ACCAGGCAAA GAGGAAAATT GGGGCCGGGG ACAGAAGACC
2450
AGGTGTGTGG TGGGAGTACG AGGCAGGTTA TGGGGCTTCA AAGAAGGCCC
2500
TGATCCTGAG GGCTCCCTCC GGTCACTGCA AGGCAGCAGT GGGGAAGGCA
2550
CAGACAGGAG GTAAATAGGG AAAGTTGCCC TGAGAAAGAA CACACTCTGA
2600
GGTCCACAAA CTGGAAAAGA AATCTTGCAT GCGT
G
T
T
G
A
G
T
A
C
A
T
G
G
A
C
T
2650 |
REPEAT
C
A
C
G
G
A
G
A
T
T
C
A
G
A
C
A
A
A
C
A
A
C
C
T
G
A
C
T
T
T
C
C
G
T
G
A
C
T
A
A
C
G
A
T
G
T
G
A
C
C
2700
T
C
G
G
G
C
A
C
T
C
A
A
C
T
C
T
T
T
G
T
G
C
C
T
C
A
C
T
T
T
T
C
C
T
G
C
C
T
G
T
A
A
A
G
T
G
G
G
T
A
2750 |
var(2747):[C:0.01]
T
G
A
T
G
G
C
G
C
T
C
A
C
C
C
T
G
C
T
G
G
G
T
T
C
A
T
G
T
G
A
G
T
T
T
C
C
A
G
T
G
T
T
C
A
C
C
A
C
C
2800 |
var(2768):[T:0.01]
C
A
C
A
G
A
G
T
G
C
T
C
C
T
A
A
G
T
G
G
G
A
G
A
G
T
A
T
A
T
C
T
T
A
G
G
C
T
C
T
C
A
G
G
A
A
A
T
G
T
2850
T
TGCGGCTAA CAGCCCAGAG TTAAAAAACA GGTGTGTTCT GGCCAGCCAG
2900
AGGGAAGTAG GGCCTCTGAG GACAGCCTTC ATGGGCCATT GGCTGGGCAG
2950
TGGCTCGCTT GCAATAAGCA TGTGCTGGGT GGGCTGCAGG AGGCCCCAGG
3000
AACAGCTAAA AACCCCCCAG GCTCTTGCCC CAGGAGTGGC ATGAACTTGA
3050
GAGCCAGCGG GCACTGCTGC AGCCACACCC TCCTCGATGG TGCAGATACC
3100
TCAGTCTGCC CTTGGCTGCC TCACCTTCTT ACCCTGTCTC CCTCAAAGAG
3150
GGAGTGTTCA GTAAGTTGTT TCCTCCCAGC AGACTTCACT GGGACCCATG
3200
CTGGAGTAAG AATAAAAAGT CCCAGAGGA
G
G
C
C
A
G
G
C
A
C
G
G
T
G
G
C
T
C
A
C
A
3250 |
REPEAT
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
G
T
G
G
A
T
G
G
C
C
G
A
G
G
C
A
G
A
C
T
C
A
C
G
A
G
G
T
C
A
G
G
A
3300
G
T
T
T
G
A
G
A
C
C
G
G
C
C
T
G
G
C
C
A
A
AGTCCCAGA GGACTAAGGG CCTTTCTGGG
3350
AATGGGGGAT CCTCTCTCCT ATGTGGACAT GGCAACCTGT ATGGGGTCCC
3400
CAGTCACAGG TCTGTGCTCA CCCCCATCTC TGCTTTTTCT CGCCCTTCCC
3450
CGCAG
G
C
T
G
A
T
C
C
C
G
T
C
C
T
C
C
A
C
T
G
A
G
A
C
C
T
G
A
A
A
A
A
T
G
G
C
T
T
C
G
G
G
G
C
A
3500 | Exon 2 |
UTR
M A S G Q 5
A
G
G
C
C
C
A
G
G
T
C
C
T
C
C
C
A
G
G
C
A
G
G
A
G
T
G
C
G
G
A
G
A
G
C
C
T
G
C
C
C
T
G
C
C
C
T
C
T
G
3550 |
var(3528):[T:0.07]
G P G P P R Q E C G E P A L P S 21
C
T
T
C
T
G
GTAA GGGTCTTCCT GCCCCCTCAC CCATCCCATA ACCATGAGTG
3600
A S 23
CTGTCGTGAG GATGGAAGGA GCAGGACTCA GGCAGGCTCC TTCGCCTCGG
3650
TTCACCCACT GTGGGTGGGG AATACTCTTC CCCACCCACG GGCTCAGAGG
3700
CTGGAGCTGC TGTCAAGGTT AAGCC
C
AGGA GGGGGAGGAG TC
T
GGACTGG
3750 |
var(3726):[T:0.01]
|
var(3743):[C:0.23]
GGAGGGCCTG GAGGTTGGGA GAGGCCAGGA AGTGAGTGTA AGGTAGGCAC
3800
AGTGCCACC
G
GGGCAGAGGG CTGGGTCACG GGCGAGGGAG GCAGGAATTA
3850 |
var(3810):[A:0.01]
GAGTGGGGCC TGGCTGCTGT ATCCCTCCAG CGGGAGAAAT AAGGAAGTAA
3900
GCTGGCCAAT CACCCAGTCA GGTCTGCTCA ACAGGGAACG CAATTATTGT
3950
GACTTGGGGA GGAAGTAAGA TGGCTGCCCT CCTTCCCTCT TCCCAGGGGA
4000
TAGCCAGGGA AGCCCCAGCT CACACCTCAC GGCGGGCTGT TCCCTG
G
A
C
T
4050 |
REPEAT
T
G
G
G
A
A
T
C
A
G
G
T
C
C
C
A
G
G
T
C
T
G
T
C
A
C
T
A
T
C
T
C
C
C
T
G
T
G
T
G
A
C
T
T
T
TCTGG
4100
GCCGCAGCTA CAAATTCAGA TTTTGTTTCC CACATTTCCC TGCACGCAAA
4150
GGGCTGCGGA GCTGAGATGT ACTAATGTA
G
A
C
T
C
A
G
G
A
C
C
C
C
A
A
A
T
G
C
C
C
4200 |
REPEAT
G
G
G
A
C
T
G
T
C
C
C
G
G
T
T
C
C
C
C
G
G
C
T
T
G
T
T
C
T
G
G
C
T
G
T
A
T
G
A
C
C
T
T
G
C
A
C
A
C
G
4250 |
var(4211):[T:0.01]
T
T
A
C
T
C
A
G
A
C
A
C
C
C
T
G
T
G
C
C
A
T
T
T
T
C
C
C
C
C
T
G
C
C
A
G
C
T
G
G
G
G
A
T
T
G
C
C
T
G
4300
C
T
C
C
C
A
G
G
G
C
T
A
C
T
G
T
G
A
G
G
A
C
T
C
A
A
T
G
CA AGTGCCGGAA CAACTCTCCA
4350
CACAGCATAA GCTCTAGGGG CGGCTAAGGT GCTGAAGTA
G
G
G
A
T
A
T
T
T
C
T
4400 |
NOT SCANNED
|
REPEAT
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
4450
T
G
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
4500
C
G
T
G
A
T
C
T
A
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
A
A
C
T
C
C
C
G
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
C
4550
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
G
A
C
T
A
C
A
G
G
C
G
C
C
T
C
C
C
A
C
C
A
C
G
C
C
4600
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
G
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
4650
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
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
4700
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
C
C
A
C
A
C
C
C
G
G
C
C
A
T
T
T
T
T
T
T
4750 |
REPEAT
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
T
T
C
G
C
T
C
T
T
G
T
T
G
C
C
T
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
4800
G
G
C
A
C
G
A
T
C
T
C
C
G
C
T
C
A
C
C
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
G
T
C
A
A
G
T
A
A
T
T
C
4850
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
T
T
C
T
T
G
A
G
T
A
G
G
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
4900
A
C
A
C
C
C
G
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
A
G
T
T
T
C
T
C
C
A
T
G
T
T
G
4950
G
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
C
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
5000
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
C
A
C
C
G
C
A
C
C
T
G
G
T
T
G
G
G
A
T
A
5050
T
T
T
C
T
T
T
C
C
A
T
G
G
G
TGAGGA CAGCTATGGC CTTAGGAAGA GTGAATCCCC
5100
TATAAGGCAT GGGGCTGCCA GGGTTCGGCC CTCTCTCCCT GACTCCCAGC
5150
TTTGATCCTC AG
A
G
G
A
G
C
A
G
G
T
A
G
C
C
C
A
G
G
A
C
A
C
A
G
A
G
G
A
G
G
T
T
T
T
C
C
G
C
5200 | Exon 3 |
var(5175):[T:0.01]
E E Q V A Q D T E E V F R 36
A
G
C
T
A
C
G
T
T
T
T
T
T
A
C
C
G
C
C
A
T
C
A
G
C
A
G
G
A
A
C
A
G
G
A
G
G
C
T
G
A
A
G
G
G
G
T
G
G
C
5250
S Y V F Y R H Q Q E Q E A E G V A 53
T
G
C
C
C
C
T
G
C
C
G
A
C
C
C
A
G
A
G
A
T
G
G
T
C
A
C
C
T
T
A
C
C
T
C
T
G
C
A
A
C
C
T
A
G
C
A
G
GT
5300
A P A D P E M V T L P L Q P S S 69
GAGCTACAAC CGCTGGGCCC ACAAGGACAT CTTCAGGGAG GCAGTAGCTC
5350
GCATGGGTCT CTGTGCAGGT CCTGGGAGCT GGGGAGGCCT CGGGGGTCTT
5400
GCCCTTCTCT CATGGTTGCT CCTCTTTTAT GTTGGGCTCC CACCCCCATC
5450
CAGGACCT
G
G TAT
C
C
T
T
T
T
T
A
G
C
C
C
A
T
G
C
C
TGCCCCTTCT
C
C
T
GGAGCCC
5500 |
var(5459):[T:0.47]
|
var(5464):[-:0.01]
|
var(5491):[-:0.16]
AGCACTCATG TCTTAGAACA CTGTCAGGGA CCTCCAAGAA GGGATGCACA
5550
GGGCCATGGA CAGCTCAGGC AGAACCCCTC TGCCATGAGC CAGGGCCTGG
5600
TCCCGACTGC CTGGTTACTG GCTCACCTGC ATGCCTCCTG CTCCTACAG
C
5650 | Exon 4 |
var(5650):[A:0.01]
69
A
C
C
A
T
G
G
G
G
C
A
G
G
T
G
G
G
A
C
G
G
C
A
G
C
T
C
G
C
C
A
T
C
A
T
C
G
G
G
G
A
C
G
A
C
A
T
C
A
A
5700
T M G Q V G R Q L A I I G D D I N 86
C
C
G
A
C
G
C
T
A
T
G
A
C
T
C
A
G
A
G
T
T
C
C
A
G
A
C
C
A
T
G
T
T
G
C
A
G
C
A
C
C
T
G
C
A
G
C
C
C
A
5750
R R Y D S E F Q T M L Q H L Q P 102
C
G
G
C
A
G
A
G
A
A
T
G
C
C
T
A
T
G
A
G
T
A
C
T
T
C
A
C
C
A
A
G
A
T
T
G
C
C
A
C
C
A
G
GTACCCC
5800 |
var(5752):[A:0.04]
T A E N A Y E Y F T K I A T S 117
AGCCACCTCC CTGCCAGCTC CAGTCACTCC TCTGTCATGT CACAACCATA
5850
CCATACCCTG CCTGCATGAT GCTCTCCTGG CATGGGGAGA AGCCTTCTGT
5900
CAGTGTCCAA TGTCTGCTGT GAACTCACAT GTGGTCTCGG CCCCCTATTT
5950
TTCTCTTTCG GGGTCCCAGA C
T
T
G
T
A
T
T
T
T
G
G
G
C
A
T
T
A
G
C
T
C
A
C
A
G
C
T
C
T
6000 |
NOT SCANNED
T
T
T
G
A
G
C
T
C
T
G
A
C
T
C
C
A
A
G
G
T
C
T
T
G
A
C
T
G
G
T
T
A
G
A
T
C
A
G
G
A
C
T
C
T
A
G
A
G
G
6050
G
G
G
C
C
T
G
A
G
G
T
G
G
G
G
A
C
G
T
C
C
C
C
C
A
C
A
G
C
T
C
C
C
C
A
G
C
C
C
A
G
C
T
G
G
G
A
C
A
T
6100
A
G
C
T
G
T
C
C
T
T
C
A
T
A
G
T
T
C
C
A
A
T
T
T
G
A
A
A
C
C
A
C
A
T
A
T
C
A
C
A
C
T
G
A
A
G
A
T
G
G
6150
T
G
A
G
G
G
T
G
C
T
A
A
C
C
T
C
T
G
C
C
A
G
G
T
C
C
T
A
G
A
A
A
T
G
G
C
T
C
C
T
A
C
T
T
G
C
T
A
T
A
6200 |
REPEAT
A
T
C
T
G
G
C
A
T
C
C
A
A
G
T
G
G
T
T
A
A
A
G
A
C
A
C
C
G
A
A
T
A
T
T
T
G
G
G
T
G
C
A
A
A
T
C
C
A
A
6250
G
C
T
T
T
G
C
C
A
C
T
T
A
C
T
G
C
C
T
T
C
G
T
G
A
A
G
C
T
T
C
C
T
A
G
C
C
C
T
T
A
G
T
C
T
C
C
T
G
G
6300
T
T
T
G
T
A
A
A
A
T
A
G
G
G
A
A
A
A
T
A
T
G
C
T
T
A
G
A
T
T
A
G
T
G
T
C
C
A
C
C
T
T
A
C
A
A
A
G
T
G
6350
T
T
A
G
C
C
A
T
T
G
C
T
A
C
C
A
C
C
A
G
A
G
T
T
A
G
G
G
A
A
G
T
C
A
G
T
G
T
C
G
G
A
G
T
A
G
A
T
T
T
6400
G
A
A
A
C
T
G
G
AG GTGAAGGTAG GAGTAAGTGA TAGATTTTAG AATTAGTGCT
6450
CAGAGCTGAA ATATCCAGTC CGTGAACTTA GAGGCCAGCC TTCATACCAC
6500
TGTGATGACA GGAACTACCC TAATCTTTTC TGTCCTTTTC TCTCTGCTGT
6550
CCCT
C
GGGCT GCCAGGCCAG CAGCAACACC CACAGGTAAT CTCCCCGCTG
6600 |
var(6555):[T:0.01]
ACTCCATCCA CTTGCTCTGC CCTCTGCCCT CTCTGTGCCC CGTTGCACCT
6650
GAGCGTACAC CCCAGCAGTG GCATCCAGCT CATCTGCCCC TGAGC
T
TTCT
6700 |
var(6696):[A:0.01]
CCTTTCGCAG AGACCCAGGT TGTTCCCAAA TACAGGCCAG GTTGGGGCAG
6750
CCTCTGCGGC CTTAATTCA
C
AGCTAAGCTA TTTAGCTTCC AGCTGGGAGA
6800 |
var(6770):[T:0.01]
GGGGTGGGAG AGGCCAGGCA GGCTGAAGGG CTTCCTGGGG GCTCTCCACC
6850
AATGCTATGG GATGCTCTGC CCACAG
C
C
T
G
T
T
T
G
A
G
A
G
T
G
G
C
A
T
C
A
A
T
T
G
6900 | Exon 5
L F E S G I N W 125
G
G
G
C
C
G
T
G
T
G
G
T
G
G
C
T
C
T
T
C
T
G
G
G
C
T
T
C
G
G
C
T
A
C
C
G
T
C
T
G
G
C
C
C
T
A
C
A
C
G
6950
G R V V A L L G F G Y R L A L H 141
T
C
T
A
C
C
A
G
C
A
T
G
G
C
C
T
G
A
C
T
G
G
C
T
T
C
C
T
A
G
G
C
C
A
G
G
T
G
A
C
C
C
G
C
T
T
C
G
T
G
7000
V Y Q H G L T G F L G Q V T R F V 158
G
T
C
G
A
C
T
T
C
A
T
G
C
T
G
C
A
T
C
A
C
T
G
C
A
T
T
G
C
C
C
G
G
T
G
G
A
T
T
G
C
A
C
A
G
A
G
G
G
G
7050
V D F M L H H C I A R W I A Q R G 175
T
G
G
C
T
G
G
GTG AGTATC
C
AAG GACTGCAATG TCCTCCCTGC TGTTGGGGCT
7100 |
var(7067):[T:0.01]
G W 177
GCCCCTCTCC CAGGCCCCAC CCCTTCCTCG GGTTCCTATA TCTTCTGCTA
7150
GCCTCTCTGT GACCACCTTG TTTCTCCCGG CAG
G
T
G
G
C
A
G
C
C
C
T
G
A
A
C
T
T
7200 | Exon 6
V A A L N L 183
G
G
G
C
A
A
T
G
G
T
C
C
C
A
T
C
C
T
G
A
A
C
G
T
G
C
T
G
G
T
G
G
T
T
C
T
G
G
G
T
G
T
G
G
T
T
C
T
G
T
7250
G N G P I L N V L V V L G V V L 199
T
G
G
G
C
C
A
G
T
T
T
G
T
G
G
T
A
C
G
A
A
G
A
T
T
C
T
T
C
A
A
A
T
C
A
T
G
A
C
T
C
C
C
A
A
G
G
G
T
G
7300 |
UTR
L G Q F V V R R F F K S 211
C
C
C
T
T
T
G
G
G
G
T
C
C
C
G
G
T
T
C
A
G
A
C
C
C
C
T
G
C
C
T
G
G
A
C
T
T
A
A
G
C
G
A
A
G
T
C
T
T
T
7350
G
C
C
T
T
C
T
C
T
G
C
T
C
C
C
T
T
G
C
A
G
G
G
G
T
C
C
C
C
C
C
T
C
A
A
G
A
G
T
A
C
A
G
A
A
G
C
T
T
T
7400 |
var(7361):[T:0.32]
A
G
C
A
A
G
T
G
T
G
C
A
C
T
C
C
A
G
C
T
T
C
G
G
A
G
G
G
C
C
C
C
T
G
C
G
T
G
G
G
G
G
C
C
A
G
T
C
A
G
7450
G
C
T
G
C
A
G
A
G
G
C
A
C
C
T
C
A
A
C
A
T
T
G
C
A
T
G
G
T
G
C
T
A
G
T
G
G
G
C
C
C
T
C
T
C
T
C
T
G
G
7500 |
var(7460):[C:0.01]
G
C
C
C
A
G
G
G
G
C
T
G
T
G
G
C
C
G
T
C
T
C
C
T
C
C
C
T
C
A
G
C
T
C
T
C
T
G
G
G
A
C
C
T
C
C
T
T
A
G
7550 |
var(7530):[G:0.01]
C
C
C
T
G
T
C
T
G
C
T
A
G
G
C
G
C
T
G
G
G
G
A
G
A
C
T
G
A
T
A
A
C
T
T
G
G
G
G
A
G
G
C
A
A
G
A
G
A
C
7600
T
G
G
G
A
G
C
C
A
C
T
T
C
T
C
C
C
C
A
G
A
A
A
G
T
G
T
T
T
A
A
C
G
G
T
T
T
T
A
G
C
T
T
T
T
T
A
T
A
A
7650 |
var(7632):[T:0.01]
T
A
C
C
C
T
T
G
T
G
A
G
A
G
C
C
C
A
T
T
C
C
C
A
C
C
A
T
T
C
T
A
C
C
T
G
A
G
G
C
C
A
G
G
A
C
G
T
C
T
7700 |
var(7700):[C:0.06]
G
G
G
G
T
G
T
G
G
G
G
A
T
T
G
G
T
G
G
G
T
C
T
A
T
G
T
T
C
C
C
C
A
G
G
A
T
T
C
A
G
C
T
A
T
T
C
T
G
G
7750
A
A
G
A
T
C
A
G
C
A
C
C
C
T
A
A
G
A
G
A
T
G
G
G
A
C
T
A
G
G
A
C
C
T
G
A
G
C
C
T
G
G
T
C
C
T
G
G
C
C
7800
G
T
C
C
C
T
A
A
G
C
A
T
G
T
G
T
C
C
C
A
G
G
A
G
C
A
G
G
A
C
C
T
A
C
T
A
G
G
A
G
A
G
G
G
G
G
G
C
C
A
7850
A
G
G
T
C
C
T
G
C
T
C
A
A
C
T
C
T
A
C
C
C
C
T
G
C
T
C
C
C
A
T
T
C
C
T
C
C
C
T
C
C
G
G
C
C
A
T
A
C
T
7900
G
C
C
T
T
T
G
C
A
G
T
T
G
G
A
C
T
C
T
C
A
G
G
G
A
T
T
C
T
G
G
G
C
T
T
G
G
G
G
T
G
T
G
G
G
G
T
G
G
G
7950
G
T
G
G
A
G
T
C
G
C
A
G
A
C
C
A
G
A
G
C
T
G
T
C
T
G
A
A
C
T
C
A
C
G
T
G
T
C
A
G
A
A
G
C
C
T
C
C
A
A
8000
G
C
C
T
G
C
C
T
C
C
C
A
A
G
G
T
C
C
T
C
T
C
A
G
T
T
C
T
C
T
C
C
C
T
T
C
C
T
C
T
C
T
C
C
T
T
A
T
A
G
8050 |
var(8032):[T:0.01]
A
C
A
C
T
T
G
C
T
C
C
C
A
A
C
C
C
A
T
T
C
A
C
T
A
C
A
G
G
T
G
A
A
G
G
C
T
C
T
C
A
C
C
C
C
C
A
T
C
C
8100
C
T
G
G
G
G
G
C
C
T
T
G
G
G
T
G
A
G
T
G
G
C
C
T
G
C
T
A
A
G
G
C
T
C
C
T
C
C
T
T
G
C
C
C
A
G
A
C
T
A
8150
C
A
G
G
G
C
T
T
A
G
G
A
C
T
T
G
G
T
T
T
G
T
T
A
T
T
T
C
A
G
G
G
A
A
A
A
G
G
A
G
T
A
G
G
G
A
G
T
T
C
8200 |
var(8176):[A:0.32]
A
T
C
T
G
G
A
G
G
G
T
T
C
T
A
A
G
T
G
G
G
A
G
A
A
G
G
A
C
T
A
T
C
A
A
C
A
C
C
A
C
T
A
G
G
A
A
T
C
C
8250
C
A
G
A
G
G
T
G
G
G
A
T
C
C
T
C
C
C
T
C
A
T
G
G
C
T
C
T
G
G
C
A
C
A
G
T
G
T
A
A
T
C
C
A
G
G
G
G
T
G
8300
T
A
G
A
T
G
G
G
G
G
A
A
C
T
G
T
G
A
A
T
A
C
T
T
G
A
A
C
T
C
T
G
T
T
C
C
C
C
C
A
C
C
C
T
C
C
A
T
G
C
8350
T
C
C
T
C
A
C
C
T
G
T
C
T
A
G
G
T
C
T
C
C
T
C
A
G
G
G
T
G
G
G
G
G
G
T
G
A
C
A
G
T
G
C
C
T
T
C
T
C
T
8400
A
T
T
G
G
G
C
A
C
A
G
C
C
T
A
G
G
G
T
C
T
T
G
G
G
G
G
T
C
A
G
G
G
G
G
G
A
G
A
A
G
T
T
C
T
T
G
A
T
T
8450
C
A
G
C
C
A
A
A
T
G
C
A
G
G
G
A
G
G
G
G
A
G
G
C
A
G
A
T
G
G
A
G
C
C
C
A
T
A
G
G
C
C
A
C
C
C
C
C
T
A
8500
T
C
C
T
C
T
G
A
G
T
G
T
T
T
G
G
A
A
A
T
A
A
A
C
T
G
T
G
C
A
A
T
C
C
C
C
T
C
AC CCTGACTTAG
8550
TTTTTGTATT CTCTGCTACC CCTCTTTCCA TCAGGCCAGA CTGTGGGAAC
8600
CTGGGCACGC CTGGCATACA TCTGGCTTAT TACTGAATAA AACCTCACAC
8650
TAGGCCTC
C
A GAATCCCATA GAGGCCTGAG TATGGTTCTG CAGCCCCCAC
8700 |
var(8659):[T:0.38]
TCCGATGGAA GGCGTTC
G
CC CCTCCCCATG AACTTCTCTC ATCTCG
T
T
G
G
8750 |
var(8718):[A:0.01]
|
NOT SCANNED
G
T
T
T
C
A
T
G
C
A
G
T
T
T
C
C
A
C
C
C
T
T
T
A
G
G
A
A
G
T
C
T
G
G
G
A
G
G
T
C
C
T
T
T
A
G
C
T
A
C
8800
A
G
A
G
C
T
G
G
T
G
G
A
G
C
A
G
C
T
G
C
A
C
A
T
A
T
C
T
G
A
G
G
A
C
C
C
C
C
A
C
A
G
G
C
T
A
C
C
T
C
8850
T
G
A
C
C
T
G
G
G
C
T
G
A
A
T
T
C
T
T
C
T
C
C
C
A
C
C
C
T
G
G
G
G
C
T
A
C
C
A
C
C
C
A
C
G
C
T
G
G
T
8900
C
C
A
A
A
A
G
G
C
C
C
T
T
C
T
C
C
C
C
C
A
C
A
T
T
T
A
G
C
T
C
T
G
C
C
T
G
G
G
A
C
A
C
A
A
T
G
T
C
C
8950
C
A
G
C
T
C
C
C
C
C
T
T
C
C
T
G
A
T
G
T
C
T
C
C
A
C
A
G
T
C
A
G
C
A
C
A
C
A
C
G
C
A
G
G
G
CTTTC
9000
ATTCTAGTTT TATGCTGCTT GGGAGTCCCT ATGGGTACCC AGCCAGGGGT
9050
GATAAAAATA ACAAGCATGG GGGCGTTTAA ATGTTCCAAA ATCTACAGTC
9100
TTTCCAGTCC TGGGCACCCT GGTCTGTGTT TCTGACGCCC TTCCAAAAGG
9150
GTCACATGCA AGTCCAAGAG AACT
C
GTGAG TTTCACCTTC ACCCTCCTGG
9200 |
var(9175):[T:0.01]
GGTGGGCTTG CCAAGCCCCT TTTCCCTCCA CAAGGTCTTC AGAGTCTAGT
9250
ACAGACGCGA TCTTGGAAAA GGGAAAAGGC GGCGCTGCAG GCAGTGGTGG
9300
CTGGAAGGTG GTTGCTACAA GGCACCCCGC AGTGTACAGG AAAAGCTCAC
9350
AGA
C
A
A
C
A
T
T
T
A
T
A
G
A
A
C
A
C
A
T
A
C
T
G
T
G
T
G
C
C
A
G
G
C
T
T
T
A
T
G
C
T
G
A
G
A
G
T
9400 |
REPEAT
T
C
A
T
C
A
T
C
T
G
C
C
C
A
A
A
T
A
A
T
A
G
G
T
A
G
G
A
G
A
C
G
G
G
G
G
T
G
G
G
G
G
T
A
C
T
C
A
A
A
9450
C
T
A
C
T
A
T
T
T
A
C
A
G
A
T
A
A
G
G
A
A
A
C
GGGTGCT TTCTCAGAGT CACCCAAGGA
9500
GTGAGGACTT GCCACCAGGA AACTGGCTCG AGTTTTACGT
G
GAGGCCGGA
9550 |
var(9541):[T:0.01]
GAGCAATGTG GGGCTCGCGA GCACAGGTTT AAGAGGCCCA GAGTGCGGGG
9600
TCGCCTCCCT CCCGGAGCGA TGCCA
T
AGAG GTTAGAAGTG GGCGGCTGCC
9650 |
var(9626):[C:0.01]
CGAGTCCAAG ATGGCCGCCG CCGCGAGCAC GCAAGCGTGC CCTTCCTTGG
9700
GCGGGGCCTT TGGGGCGCAC CCACTCCAGC CTCTGGGCTT TGAACAGCAT
9750
GCGGCATTGA GCGGCGAACA GATCGTTGCA TCGCTGGAAG AAAGGCGGGT
9800
GGGCTGTGGT TAGCCTACTC GTCTAAGGAG CTGCAACGCT AACCGGAAAG
9850
GCATGGGTG
G
GGCAGCCCAA AAAGTTTTGG CCTGCACCGC CCCCCAACGC
9900 |
var(9860):[C:0.01]
CCTCTATTCC GCTGCCAGGA TATTCTGAAA CCAGGGGGCG AGAAGTTAGG
9950
TCGGACACAG TCA