BGLAP 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
TG
T
A
T
T
C
T
G
T
T
A
T
A
C
T
A
T
T
G
G
T
T
A
T
G
T
G
T
C
T
G
T
T
C
T
T
A
T
A
A
C
A
G
T
A
C
C
A
T
50 |
REPEAT
G
C
T
G
T
T
T
T
G
G
T
T
A
C
T
A
G
A
G
C
C
T
T
G
T
A
C
A
A
T
T
T
G
A
A
G
T
C
A
G
G
T
A
C
T
G
T
G
A
T
100
G
C
C
T
C
C
A
G
C
T
T
T
G
T
T
C
T
T
T
G
T
G
C
T
C
A
G
G
A
T
T
A
T
T
T
T
G
A
C
T
A
T
C
T
G
C
C
A
T
T
150 |
REPEAT
G
C
C
C
A
A
T
A
T
T
T
A
A
A
T
A
A
C
G
T
G
T
A
T
A
T
T
A
G
A
A
T
G
A
C
T
T
G
T
A
G
A
G
C
C
T
T
C
A
C
200
A
C
A
T
C
T
A
A
C
A
C
A
T
A
T
C
C
T
C
C
A
T
G
C
C
A
C
A
A
T
T
G
T
G
T
G
T
C
C
T
T
T
G
A
G
G
G
C
G
A
250
A
C
T
T
A
A
C
T
T
T
T
G
A
A
A
G
T
G
G
C
C
C
G
A
C
A
T
C
A
C
T
T
G
G
G
G
C
C
A
C
A
T
T
G
G
G
T
G
A
A
300
G
A
A
A
G
G
A
G
A
A
G
A
T
G
A
T
G
A
T
C
A
A
G
C
T
G
A
A
T
G
A
C
A
C
A
G
T
A
G
C
A
G
C
T
T
G
G
C
T
G
350 |
var(313):[C:0.38]
|
var(327):[A:0.50]
C
A
C
C
A
C
A
A
T
G
A
G
A
C
A
G
A
T
T
T
T
C
C
T
A
T
G
G
G
C
T
C
A
AAGTGCA TTTCCAAGAG
400
AAGCTTTCTA GTAGGGCTCA AGTGGCGGCA TCTCTGTCGA ACTCTCTCCA
450
TCCTTCATGT CAGTATCCAA TGTACATCTA CTTATAGCCA CTTGACAGCC
500
CCCTTCCTGG GGCAAACACT CATATTCCTG AGGGATACAG GTCCCCAAAT
550
TTATGGCTCC TGGATCTCCC TGGTCTTCTC TTCCCAATAC CAGTTAGCTG
600
TAGCCTGAAG GCCCTGCTGC AGCTTGGGAA GGGCCCCGGC TGGGAGGCAG
650
TGACAAGTGG AAGGCCGGCA GCCGCTCTGC TCCCTACTGT CCCCACTCCC
700
TCTGCTCTCC CCACATCACA GACTGGCCTG GGGGACTGGG CAGCAGGCGC
750
GAAAGTGGTG GTGACAAAGG CCCCCCCCC
C
A
A
G
C
C
T
G
G
T
G
C
C
A
T
C
T
T
G
C
A
800 |
NOT SCANNED
G
G
G
C
A
C
A
G
C
T
C
C
G
A
G
T
T
G
T
G
T
C
T
T
G
G
G
C
A
C
T
C
C
C
A
G
G
G
C
C
C
C
C
T
G
C
T
G
A
G
850
T
C
C
T
C
A
G
G
C
A
A
G
G
C
G
C
T
G
C
T
C
C
A
C
T
A
T
C
G
C
C
A
C
T
C
A
G
T
C
A
C
C
A
T
G
A
G
G
C
C
900 |
REPEAT
A
T
G
G
G
T
C
A
C
T
C
C
T
G
T
C
T
C
T
G
G
G
T
C
C
T
G
G
C
T
T
C
C
A
A
A
T
T
G
G
C
T
A
G
A
T
A
A
T
G
950
A
T
C
C
C
A
G
G
G
C
C
T
C
A
C
C
A
G
C
T
C
T
G
A
G
A
T
T
C
A
G
T
G
C
T
A
T
C
C
T
A
A
G
A
G
G
A
A
C
A
1000
A
A
G
C
C
C
C
C
T
G
C
T
C
T
T
A
A
A
G
C
C
A
T
G
C
C
C
C
A
C
C
C
A
T
T
C
C
A
G
C
T
A
C
A
G
A
C
C
C
T
1050
C
A
C
G
T
T
G
T
T
T
G
A
C
A
T
G
G
G
C
A
A
T
T
T
C
C
A
T
G
T
C
T
G
T
A
A
C
T
C
A
A
C
T
G
A
A
A
G
T
G
1100
T
A
C
T
T
A
A
T
T
C
A
A
G
A
A
A
G
T
T
T
C
T
C
G
C
T
A
G
A
A
A
G
C
T
C
T
G
T
T
G
A
G
G
T
C
A
G
A
G
G
1150
A
T
T
G
A
A
G
G
G
C
C
A
C
T
T
T
G
G
G
G
A
C
C
C
T
T
G
C
T
G
A
A
G
A
T
G
A
T
G
G
G
C
T
C
T
G
C
T
C
T
1200
G
G
G
G
A
T
G
C
C
C
A
G
C
C
T
A
G
G
T
G
G
T
C
A
C
A
G
A
A
C
C
C
A
G
C
T
T
G
C
T
A
T
A
A
A
T
A
C
T
T
1250
G
C
C
G
A
A
T
G
G
T
G
G
G
G
A
C
T
T
C
C
T
G
A
T
G
T
G
C
C
T
T
C
A
T
C
C
T
A
A
C
A
T
G
C
T
C
T
G
C
A
1300
G
G
G
C
C
C
A
T
G
A
C
T
T
A
G
C
C
A
C
A
G
A
C
T
C
C
A
T
C
C
A
T
A
T
T
G
T
C
C
T
G
G
G
G
G
A
A
A
C
C
1350
C
C
A
G
G
C
C
T
G
G
A
G
T
C
A
G
G
G
A
C
A
G
T
G
G
A
G
G
G
C
A
A
G
G
A
T
T
T
G
G
G
T
T
T
T
C
T
T
A
G
1400
A
T
C
C
C
A
G
T
T
T
G
T
C
T
G
T
T
G
T
C
T
C
C
C
A
T
T
G
A
T
T
T
C
A
G
G
C
T
C
T
A
C
A
C
A
G
A
G
A
A
1450
C
A
G
A
G
G
G
A
G
C
T
G
G
T
T
G
C
T
G
T
G
C
T
G
AGGGAG CCTGAGTGAG GAGACCGCCA
1500
GCCCCAGAAG CAGAGGGCAG TCAAGGTCAA GAGCCTGTGG TCCAGCATGC
1550
CTGGCCTGGG CGGGCTACCT CTGAGAACGG CTGAAATGGT G
C
CCCAGTCC
1600 |
var(1592):[:0.97]
ATCAGCAGTG ATGGAATTTG CTGGAGGACT AGGCCAGAGC AAGCCTCACT
1650
GCCACTGTGC CTTTGGGGCA CCCTTGGGGT TGGACATACA CCCCCTTTAG
1700
ATTCCTCTGT TTCTTCTACC TGGATAATTC TTGGCCATGT TCTCTCTTCT
1750
CTAGGTTCAG GTCAGCTCTG CCCCTCCGCC CCCCTCCTGC TGGTTCCCCA
1800
GCCCTTTTCC CTGGCCCTGG CTTGGAGAAT CTGTTTTCAA TCTCCACTGA
1850
TTGCCCCCTT GCTGGCCAGC CCAGGGGCCT TTACCATGTT CTCTCCACAT
1900
CCGTAAATAA AC
T
T
C
C
T
T
C
A
C
T
A
C
A
C
T
G
T
A
A
T
C
T
G
T
G
A
G
C
A
T
G
C
T
T
C
C
T
C
1950 |
NOT SCANNED
T
G
C
C
C
T
G
G
C
C
T
C
T
C
T
T
G
G
G
C
C
A
A
G
A
C
C
T
G
C
T
C
C
T
G
G
G
C
T
C
C
C
A
A
A
T
G
C
T
G
2000
G
C
T
C
C
A
G
T
C
A
A
G
G
C
T
T
C
A
G
T
C
G
T
G
G
T
C
C
T
C
T
G
G
G
A
G
C
A
T
C
C
A
G
G
C
T
G
G
G
G
2050
T
G
G
T
T
T
G
G
C
A
A
G
G
G
G
C
T
T
A
C
T
A
G
A
C
C
A
T
C
A
T
G
T
G
C
A
G
A
G
A
G
C
A
G
C
A
G
A
G
C
2100
C
C
C
T
T
G
T
A
C
A
A
A
A
A
C
C
A
G
G
A
C
C
C
C
T
G
G
G
T
T
C
C
C
T
G
T
G
G
A
T
A
G
G
A
T
G
A
G
C
T
2150
G
C
C
A
A
G
G
A
G
A
T
G
T
C
A
C
T
C
T
T
G
G
C
A
C
C
C
T
C
C
A
A
G
A
A
T
C
A
T
T
A
C
G
G
C
C
G
G
G
T
2200 |
REPEAT
G
C
A
G
T
G
G
C
T
C
A
T
G
C
T
T
G
A
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
T
G
2250
A
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
T
2300
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
A
T
G
T
G
C
C
T
2350
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
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
2400
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
C
A
G
C
C
A
A
G
A
T
T
G
C
G
C
C
A
C
T
G
T
A
C
T
C
C
A
G
C
C
T
G
G
2450
G
C
A
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
TAC
A
G
A
A
T
T
A
G
C
C
A
G
G
C
2500 |
REPEAT
A
T
G
G
T
G
G
C
G
T
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
A
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
2550
A
A
T
C
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
A
C
C
A
2600 |
NOT SCANNED
T
T
G
C
A
C
T
C
C
T
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
G
A
2650
A
C
C
G
C
G
A
G
C
A
C
T
T
T
G
T
T
T
C
T
C
T
T
G
C
T
T
C
T
T
C
C
A
C
T
T
C
A
C
T
C
T
T
C
T
T
C
A
G
C
2700
C
A
G
G
G
C
A
G
C
C
A
A
A
G
G
C
A
G
G
A
T
G
G
G
T
G
C
T
T
C
C
C
G
G
A
T
C
C
A
C
C
A
G
A
G
G
G
G
G
A
2750
A
A
G
G
G
G
T
T
G
G
G
C
G
T
G
T
A
T
G
G
G
G
G
C
A
G
A
A
C
T
T
T
T
C
C
C
T
A
G
T
G
A
G
A
G
C
C
T
T
G
2800
G
T
G
A
G
G
T
C
T
G
C
T
G
G
A
G
G
C
A
C
A
C
T
G
G
G
G
A
C
A
C
A
G
G
C
A
A
G
C
A
T
C
A
G
G
T
G
G
T
C
2850
C
C
A
A
C
T
T
C
C
C
A
C
C
C
C
C
C
T
C
C
C
A
T
A
A
A
C
G
G
C
A
C
T
T
G
G
C
T
C
A
G
T
C
T
C
C
C
T
C
T
2900
G
C
C
C
A
C
C
T
T
G
T
C
A
C
C
A
T
G
G
A
G
C
T
G
T
G
G
C
A
T
T
C
A
A
G
C
A
T
C
C
A
A
A
T
G
C
C
C
T
G
2950
C
T
T
C
T
G
T
C
A
G
G
C
C
T
G
C
C
C
C
G
T
C
G
G
G
T
G
C
T
T
T
G
T
T
T
A
C
T
T
G
T
C
A
G
G
T
T
G
G
G
3000
C
A
G
A
T
G
G
T
C
T
C
A
A
G
C
C
C
T
G
G
T
T
G
G
T
G
G
G
T
G
G
G
T
G
A
G
T
G
A
G
G
A
G
A
C
A
G
G
T
T
3050
A
G
A
C
A
G
G
G
G
A
A
G
G
T
C
C
C
A
G
G
A
C
A
T
G
T
C
T
T
C
C
C
T
C
T
C
T
G
G
G
C
T
G
A
C
C
T
G
A
G
3100
G
C
A
G
T
G
G
A
G
G
C
T
C
T
C
A
G
G
T
G
T
G
G
G
A
T
G
G
G
G
T
T
T
T
C
A
G
G
C
T
G
G
G
A
T
G
T
T
C
T
3150
G
T
A
C
C
G
T
A
G
A
G
G
A
T
A
G
G
C
C
T
T
C
C
T
A
T
T
A
C
T
T
A
T
C
G
G
A
G
C
A
C
T
A
C
G
G
G
A
G
G
3200
G
C
A
G
G
T
C
C
C
T
C
C
C
C
A
G
G
G
T
G
T
T
T
A
A
C
A
C
T
G
G
A
G
G
C
T
G
C
A
G
G
G
T
C
A
G
G
A
G
G
3250
A
G
A
A
T
C
G
T
G
G
G
G
C
C
A
G
G
A
G
G
G
C
A
G
A
G
G
C
A
C
A
C
T
C
C
A
T
C
T
T
C
G
T
G
C
T
C
C
T
C
3300
A
C
A
G
G
C
C
C
T
G
C
C
T
C
C
C
T
G
CC TGCTAAGGAC ACAGGGAAGG GGGTCCCCAC
3350
CTCAGTGCCT GCCTCCCTTC CCTGTGCCTG TGTACCTGGC AGTCACAGCC
3400
ACCTGGCGTG TCCCAGAAAC CAACCGGCTG ACCTCATCTC CTGCCCGGCC
3450
CCACCTCCAT TGGCTTTGGC TTTTGGCGTT TGTGCTGCCC GACCCTTTCT
3500
CCTGTCCGGA TGCGCAGGGC AGGGCCTGAG CCGTCGAGCT GCACCCACAG
3550
CAGGCTGCCT TTGGTGACTC ACC
G
GGTGAA CGGGGGCATT GCGAGGCATC
3600 |
var(3574):[A:0.04]
CCCTCCCTGG GTTTGGCTCC TGCCCACGGG GCTGACAGTA GAAATCACAG
3650
GCTGTGAGAC AGCTGGAGCC CAGCTCTGCT T
G
AACCTATT TTAGGTCTCT
3700 |
var(3682):[A:0.04]
GATCCCCGCT TCCTCTTTAG ACTCCCCTAG AGCTCAGCCA GTGCTCAACC
3750
TGAGGCTGGG GGTCTCTGAG GAAGAGTGAG TTGGAGCTGA GGGGTCTGGG
3800
GCTGTCCCCT GAGAGAGGGG CCAGAGGCAG TGTCAAGAGC CGGGCAGTCT
3850
GATTGTGGCT CACCCTCCAT CACTCCCAGG GGCCCCTGGC CCAGCAGCCG
3900
CAGCTCCCAA CCACAATATC CT
T
TGGGGTT TGGCCTACGG AGCTGGGGCG
3950 |
var(3923):[C:0.18]
GATGACCCCC AAATAGCCCT GGCAGATTCC CCCTAGACCC GCCCGCACCA
4000
TGGTCAGGCA TGCCCCTCCT CATCGCTGGG CACAGCCCAG AGGGTATAAA
4050
CAGTGCTGGA GGCTGGCGGG GCAGGCCAGC TGAGTCCTGA GCAGCAGCCC
4100
AG
C
G
C
A
G
C
C
A
C
C
G
A
G
A
C
A
C
C
A
T
G
A
G
A
G
C
C
C
T
C
A
C
A
C
T
C
C
T
C
G
C
C
C
T
A
T
T
G
4150 | Exon 1 |
UTR
M R A L T L L A L L 10
G
C
C
C
T
G
G
C
C
G
C
A
C
T
T
T
G
C
A
T
C
G
C
T
G
G
C
C
A
G
G
C
A
G
GTGAGT GCCCCCACCT
4200
A L A A L C I A G Q A 21
CCCCTCAGGC CGCATTGCAG TGGGGGCTGA GAGGAGGAAG CACCATGGCC
4250
CACCTCTTCT CACCCCTTTG GCTGGCAGTC CCTTTGCAGT CTAACCACCT
4300
TGTTGCAGGC TCAATCCATT TGCCCCAGCT CTGCCCTTGC AGAGGGAGAG
4350
GAGGGAAGAG CAAGCTGCCC GAGACGCAGG GGAAGGAGGA TGAGGGCCCT
4400
GGGGATGAGC TGGGGTGAAC CAGGCTCCCT TTCCTTTGCA G
G
T
G
C
G
A
A
G
C
4450 | Exon 2
G A K 24
C
C
A
G
C
G
G
T
G
C
A
G
A
G
T
C
C
A
G
C
A
A
A
G
G
T
G
C
A
G
GTATGAGGAT GGACCTGATG
4500 |
var(4458):[C:0.01]
P S G A E S S K G A 34
GGTTCCTGGA CCCTCCCCTC TCACCCTGGT CCCTCAGTCT CATTCCCCCA
4550
CTCCTGCCAC CTCCTGTCTG GCCATCAGGA AGGCCAGCCT GCTCCCCACC
4600
TGATCCTCCC AAACCCAGAG CCACCTGATG CCTGCCCCTC TGCTCCACAG
4650
34
C
C
T
T
T
G
T
G
T
C
C
A
A
G
C
A
G
G
A
G
G
G
C
A
G
C
G
A
G
G
T
A
G
T
G
A
A
G
A
G
A
C
C
C
A
G
G
C
G
C
4700 | Exon 3
A F V S K Q E G S E V V K R P R R 51
T
A
C
C
T
G
T
A
T
C
A
A
T
G
G
C
T
G
G
G
GTGAGAGAAA AGGCAGAGCT GGGCCAAGGC
4750
Y L Y Q W L G 58
CCTGCCTCTC CGGGATGGTC TGTGGGGGAG CTGCAGCAGG GAGTGGCCTC
4800
TCTGGGTTGT GGTGGGGGTA CAGGCAGCCT GCCCTGGTGG GCACCCTGGA
4850
GCCCCATGTG TAGGGAGAGG AGGGATGGGC ATTTTGCACG GGGGCTGATG
4900
CCACCACGTC GGGTGTCTCA G
A
G
C
C
C
C
A
G
T
C
C
C
C
T
A
C
C
C
G
G
A
T
C
C
C
C
T
G
G
4950 | Exon 4
A P V P Y P D P L 67
A
G
C
C
C
A
G
G
A
G
G
G
A
G
G
T
G
T
G
T
G
A
G
C
T
C
A
A
T
C
C
G
G
A
C
T
G
T
G
A
C
G
A
G
T
T
G
G
C
T
5000
E P R R E V C E L N P D C D E L A 84
G
A
C
C
A
C
A
T
C
G
G
C
T
T
T
C
A
G
G
A
G
G
C
C
T
A
T
C
G
G
C
G
C
T
T
C
T
A
C
G
G
C
C
C
G
G
T
C
T
A
5050 |
var(5029):[A:0.04]
D H I G F Q E A Y R R F Y G P V 100
G
G
G
T
G
T
C
G
C
T
C
T
G
C
T
G
G
C
C
T
G
G
C
C
G
G
C
A
A
C
C
C
C
A
G
T
T
C
T
G
C
T
C
C
T
C
T
C
C
A
5100 |
UTR
100
G
G
C
A
C
C
C
T
T
C
T
T
T
C
C
T
C
T
T
C
C
C