BAX 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
CCCTCCATAC CCTGCTGATC TATCAGCACA GATTAGTTTC TGCCACTTTT
50
TAAACTTCAT ATTCCTTTTC TTTTTACACA AACACAAACA TTCGAGTCAT
100
G
A
C
T
G
G
G
T
G
G
G
G
T
G
G
C
T
C
A
A
G
C
C
T
G
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
150 |
REPEAT
G
G
T
G
C
G
A
G
G
A
T
C
G
C
T
T
G
A
G
T
C
T
G
G
G
A
G
T
T
C
A
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
200
T
A
G
A
G
A
G
A
C
C
T
C
A
T
C
T
C
C
A
C
A
T
A
A
A
A
A
G
T
T
T
T
A
A
A
A
A
T
T
A
A
C
C
A
G
G
G
G
C
G
250
G
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
C
T
T
C
A
G
C
C
C
G
G
G
A
300
A
T
T
C
C
A
G
A
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
A
T
T
G
G
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
350
A
A
C
A
C
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
C
A
G
G
A
A
A
A
A
400
A
CAAACAAAC AGAAAAGCA
G
G
C
C
T
G
G
C
G
C
G
G
T
A
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
450 |
REPEAT
C
A
G
C
G
C
T
T
T
G
G
A
A
G
G
C
T
G
A
G
A
C
G
G
G
G
T
T
A
T
C
T
C
T
T
G
G
G
C
T
C
A
C
A
A
G
T
T
A
G
500
A
G
A
C
A
A
G
C
C
T
G
G
G
C
G
T
G
G
G
C
T
A
T
A
T
T
G
C
T
A
G
A
T
C
C
A
G
G
T
C
T
C
T
G
C
A
A
A
A
A
550
A
C
A
A
A
A
CCAC TCAGTTTTTA GTCATCTATA ACGTCCTGCC TGG
A
A
G
C
A
T
G
600 |
REPEAT
C
T
A
T
T
T
T
G
G
G
C
C
T
C
T
G
A
G
C
T
T
T
T
G
C
A
C
T
T
G
C
T
A
A
T
T
C
C
T
T
C
T
G
C
G
C
T
G
G
G
650
GAGAGCTCAA ACCCTGCCCG AAACTTCTAA AAATGGTGCC TGGATAAATG
700
AAGGCATTAG AGCTGCGATT GGACGG
G
CGG CTGTTGGACG GCGC
C
ACTGC
750 |
var(727):[A:0.13]
|
var(745):[A:0.01]
TGGCACTTAT CGGGAGATGC TCATTGGACA GTCACGTGAC GGGACCAAAC
800
CTCCCGAGGG AGC
G
AGGCAG GTGCGGTCAC GTGACCCGGC GGCGCTGCGG
850 |
var(814):[C:0.01]
GGCAGCGGCC ATTTTGCGGG GCGGCCACGT GAAGGACGCA CGTTCAGCGG
900
GGCTCTCACG TGACCCGGGC GC
G
C
T
G
C
G
G
C
C
G
C
C
C
G
C
G
C
G
G
A
C
C
C
G
G
C
G
A
950 | Exon 1 |
UTR
G
A
G
G
C
G
G
C
G
G
C
G
G
G
A
G
C
G
G
C
G
G
T
G
A
T
G
G
A
C
G
G
G
T
C
C
G
G
G
G
A
G
C
A
G
C
C
C
A
G
1000
M D G S G E Q P R 9
A
G
G
C
G
G
G
G
GT GAGGCGGGAG GCAGACGGGC GGGAGGAGGG CGAGCCCCCT
1050
G G 11
T
GCCGGCCCG TCCGGGAT
C
C TTCCTACCGG CCTGGGGCTG TGCGATCTCC
1100 |
var(1051):[C:0.25]
|
var(1069):[G:0.01]
AAGCACTGAG GGGCAGAAAC TCCCGGATCG GGCGCTGCCA GCCTCCAGTC
1150
CCCTCCGTCC TCGGAGGTTC CTGGCTCTCT GATCCC
C
GTG TCCCGATCCC
1200 |
var(1187):[G:0.01]
TGCCTCTCTG GCGCTCTCGG ACCCTCGAGA ACCAGGGGAT CT
C
GGAAGCC
1250 |
var(1243):[G:0.01]
AAGCCCCCGG GCAGGCCCGG GCTTGTCGCC CGCACCACTT CCTGCCTCTG
1300
GCACTGGTGG GAGGGGCGGG TCTCGCCTCT GCCCCCTCAG GCCAGGGGTC
1350
TGGATGCA
C
A TAGCGTTCCC CTAGCCTCTT TCCCCGGGGA GAAT
T
GTAGG
1400 |
var(1359):[T:0.23]
|
var(1395):[-:0.99]
ATACAGGCCC AGCCTCCTGG CCTTTCTCCA TCAGGGACTC AGTTGTCTGG
1450
GCCCCCCCGT CACTTTATCT GCTAGGGTCC CAGAAGTCCA GGGTCCCCAG
1500
CTCTGTCCTC CCTCA
G
GGGC CGTGAGTCTC CACAG
T
CTCC TGATCCCCTA
1550 |
var(1516):[A:0.01]
|
var(1536):[A:0.01]
GAACCCAAGA GTCCAGGTAC CTCTTCCCTT CCTTTCTCCT CTAG
G
G
C
C
C
A
1600 | Exon 2
G P 13
C
C
A
G
C
T
C
T
G
A
G
C
A
G
A
T
C
A
T
G
A
A
G
A
C
A
G
G
G
G
C
C
C
T
T
T
T
G
C
T
T
C
A
G
G
G
GTGA
1650
T S S E Q I M K T G A L L L Q G 29
GTTTGAGGTC TGATTATTGT GGCACAGATT TGAGGAGTGA CACCCCGTTC
1700
TGATTCTGCA CCCTCACTCC ATCCCCACTC TAG
T
T
T
C
A
T
C
C
A
G
G
A
T
C
G
A
G
1750 | Exon 3
F I Q D R 34
C
A
G
G
G
C
G
A
A
T
G
G
G
G
G
G
G
G
A
G
G
C
A
C
C
C
G
A
G
C
T
G
G
C
C
C
T
G
G
A
C
C
C
G
G
T
G
C
C
T
1800 |
var(1752):[C:0.01]
A G R M G G E A P E L A L D P V P 51
C
A
G
G
A
T
G
C
G
T
C
C
A
C
C
A
A
G
A
A
G
C
T
G
A
G
C
G
A
G
T
G
T
C
T
C
A
A
G
C
G
C
A
T
C
G
G
G
G
A
1850
Q D A S T K K L S E C L K R I G D 68
C
G
A
A
C
T
G
G
A
C
A
G
T
A
A
C
A
T
G
G
A
G
C
T
G
C
A
G
A
G
GTGTGGGCCC CTG
A
GGACCC
1900 |
var(1894):[G:0.50]
E L D S N M E L Q R 78
AGAAGTCCAG CCACTGGGCT CCTTCAGGAC ACAGGACTCT CAGCCC
C
GCA
1950 |
var(1947):[T:0.01]
TTCTCCTCCT CCCCTAAGAA CTAGGAGTCT GGGCCCCACA ACTCAGCGCA
2000
A
G
CATTCCGG ACTCCCAGCC CTCCTCTCTG CCAGGATCTT AAAACCCTCC
2050 |
var(2002):[A:0.14]
TTCAGGGAGT CATTTTTCCC ACCTTCCTAA ATGTCTGTCT TGTCCCCTTC
2100
CCTTGTCCCC CGTTGGCCTG TTGCTTTTCA TTTCAGCCTG GCTTGGGGCT
2150
CAGTCTCCTT ATCTTTAGTG TGCGGTGGAT GCGGGAATTT TCCACCATCA
2200
GCCTGATGCC TGCTCCCCGG CACTGGTTCT CCTCTCTCCT GCAG
G
A
T
G
A
T
2250 | Exon 4
M I 80
T
G
C
C
G
C
C
G
T
G
G
A
C
A
C
A
G
A
C
T
C
C
C
C
C
C
G
A
G
A
G
G
T
C
T
T
T
T
T
C
C
G
A
G
T
G
G
C
A
G
2300
A A V D T D S P R E V F F R V A 96
C
T
G
A
C
A
T
G
T
T
T
T
C
T
G
A
C
G
G
C
A
A
C
T
T
C
A
A
C
T
G
G
G
G
C
C
G
G
G
T
T
G
T
C
G
C
C
C
T
T
2350
A D M F S D G N F N W G R V V A L 113
T
T
C
T
A
C
T
T
T
G
C
C
A
G
C
A
A
A
C
T
G
G
T
G
C
T
C
A
A
G
GTGGGCAGCT GCAGGGCAGT
2400
F Y F A S K L V L K 123
GAGCCCAGGG ATGCTCCCCC TCAGATCTGT GAGGACCTGG GGATCGTGGT
2450
ATCAACCCCC TGCAGTGGCC CAGT
G
ACCAC AGAGGGCATG GAGAGAGATG
2500 |
var(2475):[A:0.01]
GCTGTGCACT GGGTGTCTGC TCCTTCT
T
T
T
A
T
T
C
A
T
T
C
A
A
C
A
A
G
C
A
T
T
T
A
2550 |
REPEAT
C
T
G
G
A
C
C
T
G
C
T
A
T
G
T
G
C
C
A
G
G
C
C
T
A
T
A
C
C
T
G
G
C
A
C
C
T
G
G
G
A
C
A
C
A
G
C
A
C
T
2600
G
T
A
C
A
A
A
G
C
A
G
G
C
T
A
C
A
T
C
C
C
T
G
C
T
C
T
C
A
G
G
G
A
G
T
T
C
A
C
G
T
G
C
A
G
G
G
G
T
G
2650
A
A
G
T
A
A
A
G
T
G
G
G
C
A
G
T
G
T
G
A
T
T
T
A
G
C
A
G
A
G
T
G
G
T
C
A
G
G
A
A
A
G
A
T
T
T
C
T
A
T
2700 |
var(2666):[A:0.20]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
T
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
2750 |
NOT SCANNED
T
G
A
G
T
G
C
A
A
T
G
G
C
A
T
G
A
T
C
T
T
G
G
T
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
2800
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
T
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
G
G
G
T
G
T
G
2850
C
A
C
C
A
T
T
A
T
C
C
C
T
G
G
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
2900
G
T
A
G
A
G
A
C
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
2950
T
C
A
A
G
T
G
A
T
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
A
T
3000
G
A
G
C
C
A
C
C
G
C
A
A
C
A
A
G
C
C
A
G
G
A
A
A
G
A
C
T
T
C
T
A
A
G
G
G
C
A
G
G
T
G
A
C
A
T
C
A
A
A
3050 |
REPEAT
G
A
G
C
A
G
G
T
G
A
C
A
T
T
A
A
A
G
C
C
A
A
A
G
C
T
A
G
A
A
T
G
A
T
A
A
G
A
A
G
C
A
T
G
C
A
G
T
G
A
3100
T
C
T
A
T
A
G
T
G
A
T
C
G
G
G
G
G
G
A
A
G
A
G
G
C
A
T
C
T
G
G
T
A
G
A
G
G
G
A
A
C
A
G
C
A
A
G
T
G
C
3150
A
A
A
G
G
C
C
C
T
G
A
G
G
T
A
G
G
A
C
C
A
A
G
C
C
T
C
A
T
C
T
T
T
T
G
A
C
A
G
T
A
G
G
G
A
G
G
A
G
G
3200
C
C
A
G
T
G
C
T
G
T
T
G
G
A
A
C
A
G
A
G
T
G
A
A
C
T
G
G
G
G
A
G
A
G
G
G
T
G
G
G
A
A
A
G
G
A
A
G
G
C
3250
A
C
A
G
T
T
G
G
G
C
A
G
G
G
G
C
A
G
A
T
T
G
T
G
T
G
G
A
G
T
T
T
T
T
C
G
G
G
C
T
G
C
T
G
G
A
A
A
G
A
3300
C
T
T
T
T
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
3350 |
REPEAT
|
var(3348):[A:0.01]
T
C
A
C
T
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
C
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
3400
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
T
G
A
C
T
C
T
C
A
T
G
C
T
T
T
A
G
C
C
T
C
C
C
A
A
G
T
3450 |
var(3448):[G:0.01]
A
G
C
T
A
G
A
A
T
T
A
C
A
G
G
C
A
C
A
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
G
T
T
T
T
T
G
T
A
T
T
T
T
3500
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
3550 |
var(3510):[T:0.02]
|
var(3513):[A:0.14]
|
var(3535):[A:0.01]
G
C
C
T
C
A
A
G
T
G
A
T
C
C
G
C
C
C
A
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
3600 |
var(3570):[T:0.02]
C
G
T
G
A
A
C
C
A
C
T
G
C
A
C
C
C
A
G
C
C
T
G
G
A
A
A
G
A
C
T
T
T
A
A
C
T
T
T
A
C
T
C
T
G
A
G
T
G
T
3650 |
REPEAT
G
A
T
G
G
G
A
G
T
G
A
T
T
G
G
C
T
G
G
T
T
T
T
A
A
A
T
A
C
G
G
A
A
G
C
G
A
C
A
A
G
A
C
C
T
G
A
T
T
T
3700
A
T
A
A
A
T
T
T
A
A
G
A
G
A
T
T
A
T
T
C
T
A
G
C
AAGTAT
A
G
A
T
G
C
C
C
C
T
T
G
A
C
T
T
G
C
A
A
3750 |
var(3705):[C:0.16]
|
REPEAT
T
G
G
T
G
T
T
A
C
A
T
C
C
T
A
G
T
A
A
T
C
C
C
A
T
C
A
T
A
A
A
T
T
G
A
A
A
A
T
A
A
C
A
T
A
A
G
T
T
G
3800
A
A
A
A
T
G
C
A
T
T
C
A
A
T
G
C
C
C
C
G ATAAACCCAT AGTAAGGTCA AAATTGTAAG
3850
TCAAACCGTC ATAAGTTGGG GACTGTCTGT ATAGCAAAAT GTTAATTGTA
3900
GAATCTAATT ATAGGTGGCG GCTATATGGC TTTTAACTGT GAAATTCTTT
3950
TAACT
T
TTCA TTATGAAGAT TCTCATAAGA AAATGTGGTG GGGGTGGTGG
4000 |
var(3956):[A:0.02]
G
GAAATGCTC
C
T
G
G
C
T
G
T
T
G
T
T
G
G
C
C
A
A
A
A
G
A
G
A
T
C
A
T
G
A
G
G
C
A
C
A
A
G
G
G
4050 |
var(4001):[T:0.23]
|
REPEAT
C
A
G
A
A
G
C
G
A
G
G
A
T
C
C
T
G
G
A
G
A
G
G
T
G
G
C
A
C
C
T
G
T
C
A
T
A
G
T
C
T
T
G
C
C
G
A
A
A
G
4100 |
var(4095):[T:0.19]
A
T
G
A
C
A
A
G
C
C
C
T
G
G
T
G
G
T
A
G
C
A
G
C
A
G
A
G
G
T
G
CGGGGGGG
G
CA
T
T
T
T
T
T
T
T
4150 |
var(4118):[C:0.03]
|
var(4140):[-:0.01]
|
REPEAT
T
T
T
A
A
G
A
G
G
T
A
G
G
G
T
C
T
T
G
C
T
C
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
A
G
T
G
A
4200 |
NOT SCANNED
T
C
A
T
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
A
C
C
G
C
T
G
G
G
G
T
C
A
A
G
C
A
G
T
T
C
T
C
T
C
G
C
C
4250
T
C
A
G
T
C
T
C
C
A
G
A
G
T
A
G
C
T
G
A
G
A
C
T
A
C
A
G
G
A
G
C
A
T
G
C
C
A
C
C
A
C
G
C
C
C
C
A
C
T
4300
A
A
C
T
G
T
T
G
C
A
T
T
A
G
T
C
T
T
T
T
T
C
T
A
T
A
G
A
G
A
C
G
G
G
G
T
C
T
C
G
C
T
A
T
G
T
T
G
T
C
4350
C
A
G
G
C
T
G
G
T
C
T
C
C
A
A
C
A
G
G
G
A
G
G
G
A
T
A
T
T
T
C
T
T
T
T
T
G
G
A
A
G
A
T
T
T
T
T
T
T
T
4400 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
T
A
C
A
G
G
G
T
C
T
C
G
C
T
C
T
G
T
T
A
C
C
A
A
G
G
C
T
G
4450
G
A
A
T
G
C
A
G
T
G
G
C
A
T
G
A
C
C
T
T
G
G
C
T
C
A
C
T
G
C
A
G
T
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
4500
A
A
G
C
A
A
T
T
C
T
A
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
A
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
T
C
T
C
C
C
C
4550
A
C
C
A
C
A
C
C
A
G
C
A
A
A
T
G
G
G
A
G
G
G
A
T
A
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
4600 |
REPEAT
T
T
T
C
C
T
G
A
G
A
C
G
G
A
G
T
C
T
C
T
C
T
C
G
G
T
T
G
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
4650 |
var(4624):[A:0.02]
C
G
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
T
A
A
G
C
G
A
T
T
C
T
C
4700
T
T
G
C
C
T
C
A
G
T
C
T
C
C
C
G
A
G
T
A
G
C
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
C
C
G
C
C
A
C
C
A
C
A
C
4750 |
var(4710):[C:0.02]
|
var(4740):[T:0.01]
C
C
A
G
C
T
A
A
T
T
T
T
T
G
C
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
4800 |
var(4751):[T:0.01]
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
T
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
G
G
T
C
T
C
C
4850
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
G
C
C
A
C
C
G
T
G
C
T
C
A
G
C
T
GAGAGGGAT
4900
ATTTCTTGAT GTGTTTTCAA GATTGAGCTG ATGGGGCCTG AACGTCCGAG
4950
ATGAGGGGAA TAGCAGTGCA GGTGATGGTG GCACCACCTA CAGAGCGGGG
5000
ATGATAGAAT AGAAGTGGCC AG
A
T
A
A
A
G
G
C
T
G
C
A
G
G
A
G
A
A
G
T
C
T
T
G
G
G
A
G
5050 |
NOT SCANNED
T
T
G
G
G
A
G
A
G
C
A
G
G
T
C
G
G
G
G
T
C
C
A
T
G
G
T
C
A
G
G
G
G
T
T
G
A
T
C
T
T
C
T
C
T
G
G
T
C
C
5100
A
G
A
A
A
A
G
T
C
C
T
C
T
C
T
G
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
5150 |
REPEAT
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
G
G
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
5200
T
C
C
T
G
G
C
T
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
A
T
T
A
5250
G
C
C
G
G
G
C
A
T
G
G
T
G
G
T
G
G
G
C
A
C
T
T
G
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
5300
G
C
A
G
A
A
G
A
A
T
G
G
C
G
T
G
A
A
C
T
G
G
G
A
G
G
C
G
G
A
G
T
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
5350
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
5400
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
G
T
C
C
T
C
T
C
T
G
G
G
G
A
A
G
T
G
A
C
A
T
T
T
G
C
C
5450 |
REPEAT
C
T
G
A
G
A
G
C
T
G
A
A
G
G
G
T
A
A
G
A
A
T
T
T
G
C
T
T
C
G
T
C
G
A
G
G
C
C
T
G
T
T
T
A
G
G
C
G
G
A
5500
A
A
C
A
G
G
A
G
T
A
C
A
T
G
A
A
G
A
A
G
T
C
C
C
G
A
G
G
C
A
G
G
A
A
G
A
A
T
T
T
G
A
T
G
G
G
A
A
T
T
5550
T
A
A
A
A
A
A
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
G
G
G
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
A
5600 |
REPEAT
|
REPEAT
C
C
T
G
T
A
A
T
C
C
C
G
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
C
G
G
A
T
C
A
C
C
T
A
A
G
G
C
5650
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
T
T
G
T
C
T
G
C
A
C
T
A
5700
A
A
A
A
T
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
G
C
C
C
G
G
T
G
T
G
G
T
G
G
C
G
G
A
T
G
C
C
T
G
5750
T
A
A
T
A
C
C
A
G
C
T
G
C
T
T
A
G
G
A
G
G
C
T
C
A
G
G
C
A
G
G
A
G
G
A
T
C
A
C
T
T
A
A
A
T
C
T
G
G
G
5800
A
G
G
C
G
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
C
G
A
G
A
C
T
G
C
A
C
T
A
T
T
G
T
A
C
T
C
C
A
G
C
C
T
G
G
G
5850
C
A
A
C
A
A
G
A
T
C
A
A
A
A
C
T
C
T
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
5900 |
REPEAT
A
T
G
T
T
G
G
C
A
G
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
A
C
C
C
T
T
T
G
G
G
A
G
G
C
T
G
G
G
G
C
A
G
G
A
G
5950
A
A
T
T
G
C
T
T
G
A
A
C
C
C
A
G
A
A
G
G
C
A
A
A
G
C
T
T
T
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
6000
C
T
G
C
A
C
T
C
C
A
T
C
C
T
G
G
G
T
G
T
C
A
G
A
G
C
A
A
G
A
C
T
C
C
A
T
C
T
T
A
A
A
A
A
A
A
A
A
A
A
6050
A
T
G
G
A
A
G
C
A
G
C
T
C
A
G
C
G
A
G
G
C
A
C
A
A
A
A
C
A
G
G
A
A
G
T
G
G
A
A
A
G
G
T
G
G
A
G
T
G
A
6100 |
REPEAT
G
G
T
C
A
G
G
C
C
A
A
A
G
C
C
T
G
C
A
C
A
C
A
G
G
G
C
T
T
G
T
G
G
G
C
T
G
C
A
C
T
G
T
G
C
C
T
T
C
G
6150
G
G
T
C
T
T
C
A
T
C
C
T
G
A
G
G
G
T
A
C
T
G
G
G
G
A
G
C
C
A
C
A
G
A
A
G
G
C
T
C
A
G
G
G
G
T
G
G
G
G
6200
C
A
G
T
T
G
A
G
A
G
T
A
A
C
A
T
T
A
T
C
T
T
G
T
T
T
A
C
A
A
T
T
T
T
A
T
T
T
T
T
T
T
T
A
T
T
T
A
T
T
6250 |
REPEAT
T
A
T
T
T
T
T
T
G
A
G
A
C
G
G
A
T
T
C
T
T
G
C
T
C
T
A
T
T
G
T
C
C
A
G
G
C
T
G
G
C
G
T
G
A
A
A
T
G
G
6300
C
G
T
G
A
T
C
T
G
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
A
C
6350
C
T
G
C
C
T
C
A
G
C
A
T
C
C
C
A
A
G
G
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
C
A
C
C
6400
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
A
T
T
T
A
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
T
G
C
T
C
T
T
G
T
T
G
6450 |
REPEAT
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
A
A
C
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
6500
C
C
C
G
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
A
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
6550
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
C
G
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
T
G
G
6600
C
A
T
T
A
C
T
C
C
G
T
A
T
T
G
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
A
G
T
G
A
T
6650
C
C
G
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
A
T
G
A
G
C
C
G
C
C
G
6700
C
A
C
C
T
G
G
C
C
A
T
G
T
T
T
A
C
A
A
T
T
T
T
TGAAGCC GACTTCAATT GTGGGTGGCA
6750 |
REPEAT
GAAATCTTTG AGGGGAGGCA AAGAATTGAC AAAGGAGGTT TGGGGCCACT
6800
ATCTCCAGGC AGTGGGGACA AGGTTCAGTC CCTAACGCCC ACTCCACTCC
6850
CCACAG
G
C
C
C
T
G
T
G
C
A
C
C
A
A
G
G
T
G
C
C
G
G
A
A
C
T
G
A
T
C
A
G
A
A
C
C
A
T
C
A
T
G
G
G
6900 | Exon 5
A L C T K V P E L I R T I M G 138
C
T
G
G
A
C
A
T
T
G
G
A
C
T
T
C
C
T
C
C
G
G
G
A
G
C
G
G
C
T
G
T
T
G
G
G
C
T
G
G
A
T
C
C
A
A
G
A
C
C
6950
W T L D F L R E R L L G W I Q D 154
A
G
G
G
T
G
G
T
T
G
G
G
T
G
A
G
A
C
T
C
C
T
C
A
A
G
C
C
T
C
C
T
C
A
C
C
C
C
C
A
C
C
A
C
C
G
C
G
C
C
7000
Q G G W V R L L K P P H P H H R A 171
C
T
C
A
C
C
A
C
C
G
C
C
C
C
T
G
C
C
C
C
A
C
C
G
T
C
C
C
T
G
C
C
C
C
C
C
G
C
C
A
C
T
C
C
T
C
T
G
G
G
7050
L T T A P A P P S L P P A T P L G 188
A
C
C
C
T
G
G
G
C
C
T
T
C
T
G
G
A
G
C
A
G
G
T
C
A
C
A
G
T
G
G
T
G
C
C
C
T
C
T
C
C
C
C
A
T
C
T
T
C
A
7100
P W A F W S R S Q W C P L P I F 204
G
A
T
C
A
T
C
A
G
A
T
G
T
G
G
T
C
T
A
T
A
A
T
G
C
G
T
T
T
T
C
C
T
T
A
C
G
T
G
T
C
T
G
A
T
C
A
A
T
C
7150 |
UTR
R S S D V V Y N A F S L R V 218
C
C
C
G
A
T
T
C
A
T
C
T
A
C
C
C
T
G
C
T
G
A
C
C
T
C
C
C
A
G
T
G
A
C
C
C
C
T
G
A
C
C
T
C
A
C
T
G
T
G
7200 |
var(7153):[T:0.04]
A
C
C
T
T
G
A
C
T
T
G
A
T
T
A
G
T
G
C
C
T
T
C
T
G
C
C
C
T
C
C
C
T
G
G
A
G
C
C
T
C
C
A
C
T
G
C
C
T
C
7250
T
G
G
A
A
T
T
G
C
T
C
A
A
G
T
T
C
A
T
T
G
A
T
G
A
C
C
C
T
C
T
G
A
C
C
C
T
A
G
C
T
C
T
T
T
C
C
T
T
T
7300 |
REPEAT
T
T
T
T
T
T
T
T
T
T
C
C
C
C
A
C
T
G
A
G
A
A
G
G
G
G
T
C
T
C
G
C
T
A
T
G
T
T
G
C
C
C
A
G
G
T
T
G
G
T
7350
C
T
C
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
C
G
A
T
C
C
T
C
C
C
G
C
C
T
C
A
G
C
C
T
C
T
C
A
A
A
G
T
G
C
7400
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
C
TGAGTCC AGCTCTTTAA
7450
TGCCCGTTCA TCTCAGTCCC CTGCCCGCAA TCCTGCCTTC TGGCCTCCTC
7500
CGTCCCTGAT CCCGCCTCTG CCTGCCCAGG GGCTGCCCCT GGCCGAGTCA
7550
CTGAAGCGAC TGATGTCCCT GTCTCCAGGA CGGCCTCCTC TCCTACTTTG
7600
GGACGCCCAC GTGGCAGACC GTGACCATCT TTGTGGCGGG AGTGCTCACC
7650
GCCTCACTCA CCATCTGGAA GAAGATGGGC TGAGGCCCCC AGCTGCCTTG
7700
GACTGTGTTT TTCCTCCATA AATTATGGCA TTTTTCTGGG AGGGGTGGGG
7750
ATTGGGGGAC ATGGGCATTT TTCTTACTTT TGTAAT
T
A
T
T
G
G
G
G
G
G
T
G
T
G
7800 |
NOT SCANNED
G
G
G
A
A
G
A
G
T
G
G
T
C
T
T
G
A
G
G
G
G
G
T
A
A
T
A
A
A
C
C
T
C
C
T
T
C
G
G
G
A
C
A
C
A
C
T
T
C
G
7850
G
C
A
T
C
T
G
A
G
T
C
A
C
T
G
G
G
C
C
T
C
T
G
C
C
C
C
G
C
T
C
C
C
C
G
G
C
A
C
G
T
C
A
G
G
A
G
A
G
C
7900
A
G
G
C
C
C
T
G
T
C
C
G
C
T
G
C
C
C
C
A
C
G
C
C
G
G
G
C
C
C
G
C
C
G
T
C
T
G
C
T
G
G
C
C
T
A
G
A
G
A
7950
T
A
C
C
T
G
C
T
T
G
G
G
C
C
A
C
T
C
A
G
G
G
A
C
G
T
G
G
G
G
C
T
C
T
C
T
G
C
A
C
T
C
A
CTTGACA
8000
TCTTTTTCTG GGGTGCCCTG TGGGGTCTGT GGGTTAGGGA TGAGTTGGTC
8050
CTGGGCCTGA CCTGCAGGAG CTCACGGGAA AGGAAAAGAA GGGAGCTCAC
8100
GGGA
A
AGGAA AAGGGAGCTC ACGGGAAACG AGGGTGATAG GTGGTACATC
8150 |
var(8105):[G:0.01]
TGTCGCAGCC CAGGATGATC TGT
A
CGGGAC AGAGGCAGCG GCCTGTGAGG
8200 |
var(8174):[G:0.38]
CCCAAGCAGG CGTGTGGGTA AGGGAAGAAC AGCACGGC
C
G GCTGCAGAGC
8250 |
var(8239):[T:0.01]
AAGCCTCC
G
C GGCCCGGGGA CCACAGCCTG GC
A
TGTCACA CGTGGGACCT
8300 |
var(8259):[T:0.15]
|
var(8283):[G:0.44]
CAGGAGGCCA TACCTTTACC GAGCTGGAGA ATGGGAGTGG GGGGAGGAGG
8350
GATGGGAGGA CCAGAGGAGC AGGAAGGGCT CTGGAGCCTG GTGGTGAGGT
8400
CGCTGGAGGG TGGCAGGCTG AGGACACCAG GGCGAGGGCC CA
T
G
GGAGAG
8450 |
var(8443):[C:0.46]
|
var(8444):[A:0.01]
GCCTCCTGAG CTGGGCTGAG GACAGAGAGG AAGGGACCTG GCTGGCGACT
8500
GAGAGGCTGG AGG
G
CAGGGC AGAGGAGGAG GAACCTGGTC TGGCCCCACA
8550 |
var(8514):[A:0.01]
GCTGGGTGGG GCCCCCCTGG AGAGGAACTG CCGGAAGAAG GTGCTGAG
C
T
8600 |
var(8599):[T:0.01]
CAGAGGCCCA GTGACCTTAG ACACAGGCGG AGCGAAGACA AGGGGGCTAG
8650
AGGATGTGGG TTCTCAGTCA CAGGGTCTCT GGCACCCCCC TCTGGGTCTT
8700
TACCCCCTCC CATCTCTGGG TCTCTGTCCC CATGCTCTGG GTCTTTGCTT
8750
TCCGAGCCTC TGTTCCCACC CCACCTTTGG CCCTCTTTCT CTGGGCCTCT
8800
TTCCACCCCT GGCACCCAGA CCTCTGGCCC CCTCTCTCTG GGTCTCTGTC
8850
CCCCCC
C
TCT GGATCTCTGG CCCCCCATCT CTCTCTGGGT CTGTCCCCCG
8900 |
var(8857):[-:0.93]
ACCCTGAGTT TCTGTCTCCC TCTC