APEX2 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
CTGAAGAATG GATGTGGATT TGTGCAACTC CTGCCTACTT TCCCTTCTTT
50
CTCACCTACC TTTTATTCTA GAGGTTTTTT CTTCCATCGC TAATTATCCA
100
ACACTCGGTT CTCTTGCATT TACAGACCCC CAAGGCAGGT CCAGTGGGTG
150
GCATCAAAGA GGAAGCCTGG AGGTGTTCGT TGGTTCCCTG AGAAGGCTGA
200
GGACGTACCC TTGTTAAGTG GGGGATGTAT GTGCTCTGTT GAAATATCAG
250
C
TGTTGTAGT TGCCAAAGAC GTTCCTGAGC CACCAGAAGC CTTTTCTCTT
300 |
var(251):[A:0.01]
CAGTCCAACC ATGTGTTCAC CTTGCCCCAA AGGTCAGAAC TAATATTAAC
350
AAGCCACTGC AGAATGGGGA AATTAAAACC AGCCATGGAG ACAGGCAAGT
400
TCTGGATTTC GCTGGTGCTG AGTTTCAGAT CGATCTTC
A
G
T
G
T
A
A
A
T
G
G
G
450 |
REPEAT
C
A
T
A
A
T
C
C
C
T
T
A
C
T
G
G
A
A
A
G
C
A
A
T
C
T
G
G
C
A
A
T
A
T
G
A
A
G
C
A
A
G
A
G
C
A
A
T
A
A
500
A
A
A
T
G
T
T
C
A
T
T
T
C
C
T
T
T
G
T
C
C
T
A
G
T
T
A
T
C
G
C
A
C
T
C
A
T
G
G
G
A
G
T
C
A
A
T
C
C
T
550
G
A
G
T
C
A
A
T
A
A
C
T
C
C
C
A
A
A
G
C
A
T
G
A
A
G
A
A
G
C
T
C
A
G
G
A
C
A
T
G
C
A
A
A
T
T
T
T
T
A
600 |
var(577):[C:0.01]
T
T
T
T
A
A
T
C
A
C
A
G
A
G
C
T
A
T
T
T
T
C
T
G
A
T
A
G
C
A
A
C
A
A
C
T
G
G
T
A
A
C
C
T
T
T
T
A
A
G
650
T
C
C
T
C
C
A
G
G
A
G
G
A
A
A
AGCAG TTTACTGCGT CTTTGCTGTA ACCATTGAGG
700
ATGATGGCTC TAAGACTTAA ATTCTGGGGA ACAAATAATT ATGCTGCAAT
750
TCTGGGTGAG GAACCTAAAG ATGCATCGTT ATGCTTTTCC CTGGACATTG
800
GGCATATCCA TTACTTCTAA TTTTTGTGCT CTCAAAAACA AGCCATGAAC
850
CTGTCGATGC TCTTGCTATT ATCCTTTGTT C
A
T
T
C
A
T
T
C
A
C
C
T
G
A
C
A
A
A
T
900 |
REPEAT
A
T
C
T
A
T
T
G
C
T
T
C
C
C
A
A
C
A
T
A
T
G
C
T
G
T
G
T
C
C
A
G
T
A
T
T
A
G
G
G
G
A
T
G
G
G
G
C
T
A
950
A
C
A
A
G
A
T
G
A
A
C
C
A
G
A
C
A
T
G
G
T
C
A
T
T
G
C
T
C
T
C
A
A
G
T
T
G
C
T
G
G
C
A
T
T
C
T
A
A
T
1000 |
var(964):[A:0.01]
G
G
C
A
G
C
A
G
A
A
A
T
A
G
A
A
G
T
C
A
A
T
G
A
T
A
G
C
T
G
T
G
T
A
T
T
A
T
A
A
G
T
A
C
T
G
T
G
A
C
1050
A
G
A
A
TGGACC ATAGGGTG
C
C GTGGGGCCCC AGAGGAAAAG ACTTAACTGG
1100 |
var(1069):[T:0.04]
GGAGGTGTGT GGTCAGTAAA AACACTCAGA AAAGTAATTA TTGAGCTAAT
1150
TAAGACAGGG TGTGAATCCT GGCTCTACTA CTTCAGTGTA AGAGAGAGTG
1200
AACTGTGAGA ATGAAATGAA TTCA
T
TCGAC GTCTCTAACT TAGCCTCCAT
1250 |
var(1225):[A:0.01]
GTCCCGAACT GGGTTGTCTT GAGAATGAAA TGAGATAACA TATACAGAAG
1300
AGCCATGGAT GCATCCGGAG ACAATGCTGC TCACGAGCTT ACATTTCCTG
1350
GGCTTCGATT TCACTTATCT GAGAAACAGA ACCAAGAGTA AGGATGTGTC
1400
CGGCTACATC CTTCAGAATG TTAAGAGCCA AGACAAAAGC TACAGGGCAG
1450
GCTTGAGACA GCCTCCTCCT CCTCCCCTCT GCCCCAATAA AGCCAAAGGC
1500
CCTCCTCCTA AGTCTTATCT CAGTG
G
AGCG ACTCTTACTG CTCCCTCCTC
1550 |
var(1526):[A:0.01]
CAACCATGAA CTTCC
C
TTTG CCCAGTCCAA CGCGAGCACT TAGCGCCAGC
1600 |
var(1566):[T:0.01]
TATTCCTGGG GCGCAAGCGC TGCAGCCATC TGTGAACTTA GGTGGGCGGT
1650
CCGCCGCACT GAGGGCGGGG CTTTGGCAGC TGAGCAGTTC CGCTCAGGGT
1700
TCCGTCGCTT AAAAAGTGGC AAAATGCCGT TTGTAAGTAA CCGGACGCAC
1750
CACTTGGACT TCTGAGTA
G
A GGAAAAACGC ATTGAGACTC AG
C
TGTCCGA
1800 |
var(1769):[C:0.07]
|
var(1793):[G:0.07]
GCGGAAGGAG CGGGAGCCCA ACTGGAAACT CCTCTCGCCA TTCATTGCCC
1850
CTAGGCTTCC GCTTTGCTTC CTTCAGCGTC CACCCAGTTC CTCCTCCCGC
1900
CAATGAGAGC TGAGGAAGTT GAAGCCCCCG CCCGACGTGC GTCAGGCGCT
1950
TTAGTGGTAC GCACGAGAAC GCCTGCGCAA ACGCGCGCGG GAGGCGGGCC
2000
T
G
G
C
C
A
A
C
T
T
C
T
G
A
A
C
A
G
G
A
A
G
C
A
G
T
T
C
G
C
T
C
G
C
G
C
C
T
A
G
G
T
T
G
G
C
G
C
G
G
2050 | Exon 1 |
UTR
G
C
T
G
G
G
A
G
G
T
G
T
T
C
C
A
G
C
C
C
T
T
T
A
A
G
A
T
G
T
T
G
C
G
C
G
T
G
G
T
G
A
G
C
T
G
G
A
A
C
2100 |
var(2067):[T:0.01]
|
var(2071):[G:0.04]
M L R V V S W N 8
A
T
C
A
A
T
G
G
G
A
T
T
C
G
G
A
G
A
C
C
C
C
T
G
C
A
A
G
G
G
G
T
G
G
C
A
A
A
T
C
A
G
G
A
A
C
C
C
A
G
2150
I N G I R R P L Q G V A N Q E P S 25
C
A
A
C
T
G
T
G
C
C
G
C
C
G
T
G
G
C
C
G
T
G
G
G
G
C
G
C
A
T
T
T
T
G
G
A
C
G
A
G
C
T
G
G
A
T
G
C
G
G
2200
N C A A V A V G R I L D E L D A 41
A
T
A
T
C
G
T
C
T
G
T
C
T
C
C
A
G
G
A
A
A
C
C
A
A
A
G
T
G
A
C
C
A
GTGAGCG CTCTGGATTC
2250
D I V C L Q E T K V T 52
CAGGATCCCT ACATACTTTT TCTTTCCCGC TAACTTTTGT CCCCTGTCCC
2300
ATGTAATTTT ACTTTCCCAG TTTCCTATTC TTAGAGTCCT GTCCTTAGAC
2350
CCAGGTCCCT TCCCTCTTAA ACTTCCATTT CCCACCCTAG CTAGATCCCC
2400
TAATTGCACT CCATCTCCTG TCTTCAGCAA ACTTTAGCTC CTTCTCGAAA
2450
CCCCATATCT AGTCAGATTC CCACTCATTC TCCGGCCCCA AACTCAGTCC
2500
CCTGAATTTC CTCCTTCCAT ACGCTGTCCA TC
T
CCCCGCC GCCAAGTCAA
2550 |
var(2533):[C:0.12]
ACCCCCGAAT TCTTCATCCC TGCCCCAAGC TCAGATCCTC TAATTCCCAC
2600
CCCATCTTTG ACCCCAGCTC AGTCTAATTT CCTCTTTTTC ACATTTCCAC
2650
CTCAGAACCC CAGTACCCCT TATCTATTCC CATCTCTCCT CCCAGCGGAA
2700
AGTCCCTAAT TCCCACCTCA TTTCCCACCC CAAGCTTAGA TGTCCTCTTA
2750
TTTCTTCACC CTCTTATCTC CCCTCAGAAT CCCCTAATTC CTTTTCCCTC
2800
CACCCCCAGT TCAGATCCCC TAATTCCCTC TCTCTTACCT CTCACCC
T
TA
2850 |
var(2848):[A:0.01]
GCTCAGATTC CCACCATCCT CTCGTATGTC CATCCCCATC CCCAGCTTCC
2900
TCCTATCGTT CAGACCCCCA GGCTTAGCTC TGATTCTTTC CCCTTCCCAC
2950
CTAATTCTCC ACCTCCACTT CATAGTCTCT AACCGCCCC
C
C
A
C
C
A
A
G
C
C
T
3000 |
NOT SCANNED
T
C
T
A
A
T
T
C
T
G
A
T
A
T
C
A
A
T
T
T
C
C
T
C
T
C
T
G
A
C
A
T
T
T
C
C
C
A
T
C
T
T
T
C
T
A
G
G
T
C
3050
C
T
C
C
T
C
T
A
A
T
C
A
T
G
G
A
T
A
T
T
T
C
A
T
T
C
C
C
G
T
C
A
C
C
C
C
C
A
A
C
T
C
T
G
G
C
T
C
T
G
3100
A
T
G
T
G
T
G
C
A
A
G
G
A
A
T
T
A
G
C
C
T
A
C
A
A
C
T
G
T
A
A
T
T
C
C
A
G
G
C
C
T
T
T
G
T
G
T
T
T
C
3150
T
C
G
G
A
T
G
C
T
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
N
3200
N
N
N
N
N
TTTTT TTTTTCCAG
G
G
G
A
T
G
C
A
C
T
G
A
C
A
G
A
G
C
C
C
C
T
G
G
C
T
A
T
C
G
T
3250 | Exon 2
R D A L T E P L A I V 63
T
G
A
G
G
G
T
T
A
T
A
A
C
T
C
C
T
A
T
T
T
C
A
G
C
T
T
C
A
G
C
C
G
C
A
A
C
C
G
T
A
G
C
G
G
C
T
A
T
T
3300
E G Y N S Y F S F S R N R S G Y 79
C
T
G
GTAAATG GGGCTTTCTG TGGACTTTAA ATTAGTGAGG GAGGCAGATA
3350
S 80
GGGGAAAAGG GTTTCCAATA TTTGATGAGA GGGTAATAAG AAATCTTAGA
3400
CATTTAGTTT ACAGAGCTAA AGCTGCATAA TAGTAAATTA CATGAAATAT
3450
AATTTTTATG GATAGAATTA TCCTACTGGA CCTCAGAAGT
A
C
A
G
T
A
G
T
A
G
3500 |
REPEAT
T
G
T
G
G
T
G
C
T
T
A
A
T
T
G
T
G
T
G
A
A
C
T
G
T
G
G
A
G
C
C
A
G
A
C
A
G
C
C
T
G
G
G
T
T
T
G
A
A
T
3550
C
A
T
G
G
C
T
C
A
T
T
T
C
C
T
A
G
C
T
G
T
G
C
A
C
C
C
T
C
T
G
G
C
A
A
G
T
T
A
C
A
T
T
A
C
C
T
C
T
T
3600
G
G
T
G
C
C
T
C
A
G
G
T
T
C
C
T
C
A
G
C
T
A
G
A
A
A
A
T
G
A
G
G
A
T
A
A
T
G
T
T
T
A
C
C
T
T
C
C
G
G
3650
G
G
C
T
G
T
T
A
C
A
A
G
G
A
T
T
A
A
A
T
G
A
A
T
T
A
A
T
C
C
A
T
G
T
G
A
T
A
A
T
A
A
T
A
A
T
T
G
C
T
3700
A
A
T
A
C
G
T
C
T
T
G
A
G
C
A
C
T
C
A
C CAT
G
TATCAA TGTAAAACAC TTAGAACATT
3750 |
var(3724):[A:0.04]
CTGTGGCTTT TTTAGATGTA GGAACTGAGA CTCCAGGGTT TGAATAAGGT
3800
TGCCCAAG
A
A CCACACTTTA TGAAGATGAC TTAGATGACT TGTGTGGGGA
3850 |
var(3809):[T:0.01]
CAATTGGAGT GGGACAGGCT GTGCAACAGG CTATTGACTG CCAGGTCTGC
3900
TCAGAGTGCC CTGTCTGTTC CCAG
G
T
G
T
A
G
C
C
A
C
C
T
T
C
T
G
T
A
A
G
G
A
C
A
A
T
3950 | Exon 3
G V A T F C K D N 89
G
C
T
A
C
C
C
C
A
G
T
G
G
C
T
G
C
T
G
A
A
G
A
A
G
G
C
C
T
G
A
G
T
G
G
C
C
T
G
T
T
T
G
C
C
A
C
C
C
A
4000
A T P V A A E E G L S G L F A T Q 106
G
A
A
T
G
G
G
G
A
T
G
T
T
G
G
T
T
G
C
T
A
T
G
G
A
A
A
C
A
T
G
G
A
T
G
A
G
T
T
T
A
C
C
C
A
A
G
A
G
G
4050
N G D V G C Y G N M D E F T Q E 122
A
A
C
T
C
C
G
G
G
C
T
C
T
G
G
A
T
A
G
T
G
A
G
G
G
C
A
G
G
G
C
C
C
T
C
C
T
C
A
C
A
C
A
G
C
A
T
A
A
G
4100 |
var(4091):[G:0.03]
E L R A L D S E G R A L L T Q H K 139
A
T
C
C
G
GTAAT AGCTCATATC TCCCTGCTAC TGAGCACTGC TGGTGCTACT
4150 |
var(4104):[T:0.01]
I R 141
CTTTGAGTGT GAAGATTCTA AGGCTTGCCA TGTAAACATA C
A
TGCACCGT
4200 |
var(4192):[G:0.01]
G
G
AGAAGTTC CCAAATTTGC CTTT
C
C
T
G
G
T
T
T
A
G
T
C
C
T
G
G
C
T
G
G
G
C
T
A
C
T
4250 |
var(4202):[A:0.01]
|
REPEAT
C
A
G
T
G
T
G
T
G
A
C
C
C
T
G
G
C
A
A
A
T
T
T
T
T
C
C
C
C
C
C
T
C
T
G
A
A
G
C
T
T
G
A
G
T
T
T
C
C
A
4300
T
C
T
C
T
A
C
A
A
T
G
T
G
G
G
G
C
T
G
G
C
C
T
A
G
T
G
A
T
C
CAGCTCTTAT TACCATAGAC
4350
ATCTCAAAAG CAACTTAGTG CTGAACTCAG TGCCCCAGGT TGCTGTCTTT
4400
CTGGGTGTTC TGT
C
T
T
T
GTG AATAGCAGCA CCATTACCTG GTGGTAATCC
4450 |
var(4414):[:0.92]
TTAGATATCC CTCTCCCTGC CTTATCAGTA GTCAGTCCCC AAGTCCTGTG
4500
CATGCCAGAT CATTTGTGTC TCTTTAACCC CTTTCTTTTC CATCCCAGAC
4550
AGTCACAAAA TGGAAGCCAT GTGGTATGGG GAAGGGACAG AAGGGGAGGT
4600
TTGAAACTGA CCCCTTTTGG GGGTTTCTCT TTTCTCCAG
C
A
C
A
T
G
G
G
A
A
G
4650 | Exon 4
T W E 144
G
T
A
A
G
G
A
G
A
A
G
A
C
C
T
T
G
A
C
C
C
T
A
A
T
C
A
A
C
G
T
G
T
A
C
T
G
C
C
C
C
C
A
T
G
C
G
G
A
C
4700
G K E K T L T L I N V Y C P H A D 161
C
C
T
G
G
G
A
G
G
C
C
T
G
A
G
C
G
G
C
T
A
G
T
C
T
T
T
A
A
G
A
T
G
C
G
C
T
T
C
T
A
T
C
G
T
T
T
G
C
T
4750
P G R P E R L V F K M R F Y R L L 178
G
C
A
A
A
T
C
C
G
A
G
C
A
G
A
A
G
C
C
C
T
C
C
T
G
G
C
G
G
C
A
G
G
C
A
G
GTAC TGCAAG
C
CTG
4800 |
var(4797):[G:0.01]
Q I R A E A L L A A G S 190
GGCAGTAAGG CTTCCTTGAG TTGGTCCTGG GTGCCCAGCC CTGTGTCAAG
4850
CTCCATTGAA AGGGATATGG ACCCTTTGTC TCTGAGTTCT TTCACAGCAT
4900
AGTTGCAAAC ACCAATATGC CC
A
CCTGAAT AGGCTCTGCT CAAAACAAAC
4950 |
var(4923):[C:0.15]
ATGGGTTTTG TACTCTGAGC ACCTATTCAG GCTCCTGCTC TTACTCATTG
5000
TGAGCCCTAG GGCTAGTCTT GCCTCTGTTT TCTCTTTTGT CAAATGAATA
5050
TATGAATCTC TACCCTACAC AATAGTTTTA AGGGTAAAAT GAGATGAGAA
5100
TGGTAAAGTG CGTGGGAGCA AAGGAAAGTC TTGTTCCAGC GGAGGACAGG
5150
AAAGTGAGGG TGGGTTAGAG CAATCAA
G
G
G
G
A
G
G
T
G
G
T
A
T
C
T
G
A
G
C
T
C
A
G
5200 |
REPEAT
C
T
T
T
G
A
A
G
G
A
C
A
A
G
A
A
A
A
A
T GCCCATTGGC TCCTGATTAG TGAGGCAGTC
5250
ATGTCAAACA TGGAACACTG TCACCTTTGG AGATCAGAAT TGGGTTGGTC
5300
AGATATGAAA GGCAGCAAGT TTGTGGTAAG ATTGGAGAGG TAGGCTGTTA
5350
TGAGTTGCTG TTGGCTAGGA AGCCTCAATA TGGGAGAGGG CCTGTCTGAG
5400
CTCTTGGGCC CAGGAAAAAG TATATGGGCC AGGACTGCTG CACCCCTTTC
5450
TAACAATCCC ACATTGTGTT TTTCAG
C
C
A
T
G
T
G
A
T
C
A
T
T
C
T
G
G
G
T
G
A
C
C
T
5500 | Exon 5
H V I I L G D L 198
G
A
A
T
A
C
A
G
C
C
C
A
C
C
G
C
C
C
C
A
T
T
G
A
C
C
A
C
T
G
G
G
A
T
G
C
A
G
T
C
A
A
C
C
T
G
GTAA
5550
N T A H R P I D H W D A V N L 213
GGCTCCCTCT AGGTGCCTGG CCCCACTCCT GACTGATTCT GTTTGTCCAG
5600
CCAACCAACC CTGAGTTTTT GGCCCAGGGA CAGCTTCCTT TATGGGAAAG
5650
CGGAGCTTGG CTTGCAATAC TATTCTTATA GTACTGAGGA TTGG
T
C
A
T
T
C
5700 |
REPEAT
A
T
T
C
A
A
T
A
G
A
C
A
A
T
A
C
T
G
A
C
T
C
T
G
C
C
C
A
T
G
G
C
C
T
G
G
C
C
C
T
G
A
G
C
C
A
C
A
T
A
5750 |
var(5709):[A:0.02]
C
T
G
A
G
G
A
C
T
C
A
G
G
A
G
T
C
A
G
A
T
C
C
A
G
C
C
C
T
T
G
G
C
T
C
C
T
A
G
G
A
G
C
T
C
T
C
C
A
G
5800
C
A
T
G
G
T
G
G
T
G
G
G
C
T
A
C
A
G
A
C
A
C
A
T
G
G
C
T
A
G
C
C
A
A
T
T
A
T
A
G
G
A
T
G
G
T
A
T
T
C
5850
T
C
A
G
G
G
C
A
G
A
G
G
C
A
C
A
G
A
T
G
G
C
A
T
C
C
C
A
G
A
A
A
G
C
T
A
C
A
G
G
A
G
C
T
C
A
G
A
G
A
5900 |
var(5879):[A:0.03]
T
G
G
G
A
T
T
C
C
T
A
G
G
T
G
A
G
C
T
C
G
G
A
C
A
T
C
A
G
G
A
C
A
G
G
C
A
G
C
T
G
A
A
A
A
T
G
G
C
T
5950
G
A
A
T
C
T
T
A
A
C
A
G
A
T
G
A
G
T
A
G
A
A
C
A
G
A
G
C
T
T
T
G
A
A
G
T
A
G
A
A
A
G
C
A
T
T
C
T
A
G
6000
C
A
T
G
G
G
C
A
A
A
G
G
T
T
T
C
A
A
G
G
T
G
A
G
A
A
T
T
T
G
C
A
T
T
G
T
G
T
G
C
A
T
G
G
G
G
A
A
C
C
6050
A
C
A
A
G
T
C
C
C
T
T
T
C
T
T
C
T
T
A
G
T
G
A
C
A
C
A
G
G
A
A
G
G
G
A
G
G
T
G
A
G
T
G
G
C
A
G
A
A
G
6100 |
var(6074):[T:0.01]
G
T
G
G
G
G
C
T
G
G
A
G
A
G
T
T
G
T
T
G
G
G
G
G
T
C
A
G
A
T
TTCAAGGACT GTGAATTCCA
6150 |
var(6122):[A:0.02]
CATTGCCTTG GTCATTT
C
CT TAATACACTG TATTTCTTGT TTATGAACTT
6200 |
var(6168):[T:0.01]
TCAGTACCTC CCTGTT
A
CCT CTGTGATGCA GAGAAAACAT GGAGACCTAG
6250 |
var(6217):[G:0.01]
CATTCAAGGC TCTCCTTGGT CTGTGACCTG TCTCTTATTT CCACCTTCAG
6300
TGTCCCTACA CATTTTGTCC TCTCTAGACA GGTTGTCTCC TGTCGGCCCG
6350
TTGTAAAAGT TATTCTCATT CTGGCTTTTC TCACTGTGCC CTGAATTGGT
6400
GGACATGACC CCCTCCCTGT CTTTTTGTTA TATGAACCTC TTATCTCTAA
6450
GTTCCCCTAG GCCCA
T
G
G
T
T
T
T
C
A
G
C
C
C
C
T
A
A
C
T
G
C
A
T
A
T
T
A
G
A
A
C
A
A
A
A
6500 |
REPEAT
A
T
A
T
C
A
A
T
A
T
C
T
T
A
G
C
A
C
T
A
C
T
C
C
A
G
A
T
C
A
A
T
G
A
A
C
T
C
A
G
A
A
C
T
C
T
C
G
A
G
6550
T
G
T
G
G
G
G
C
C
A
G
G
G
T
A
G
T
G
G
C
A
C
G
T
T
C
T
A
A
A
A
G
C
C
C
C
C
A
G
T
G
T
G
A
C
T
T
T
A
T
6600
T
G
T
G
C
A
G
C
C
A
G
G
C
T
T
G
A
G
A
A
C
C
A
C
T
G
CCCT
A
GAATCCACA AGCCAGCTCT
6650 |
var(6631):[G:0.01]
CATCTTTTCT TGCCTTATGT CTCACGATGG GGGATCAGTG ATTTATGCTG
6700
GTACAGTCCT ACTCAGCACT GGGCTTGGCT TAGAGAAGGG ACCGTGGGAA
6750
TATTCCTTGA TTAATTCACA GAAGAGCTAC ATAAATGTAG ATATGGCTCC
6800
CAGCTGGGAA AATGAGCAGA AGTGAGAGAA TGAGAGAATG GTGGTGGTGG
6850
TGTGGTGGGG AGCGGAGATA ATGCTACAAA GTGTGAGCCT TCAGTCCCTC
6900
CCTGCCTCAT TCCTCTTATG CATTCATTCA GTGTGTTCTT TCAGATTCCT
6950
GTGATAGCAT CATACATCTT TGTGCCTTTT CTACTTAGTT CAGAGGTATC
7000
CTAGATCTCT TATGTATACC TCTTTCATTT TCTCCTCCAG GAAAAGAGAA
7050
C
T
A
A
T
A
G
T
G
C
C
A
G
C
T
C
A
G
A
T
G
A
C
T
T
A
C
A
C
A
G
T
C
T
T
T
C
C
A
A
A
A
T
A
G
C
A
G
A
A
7100 |
REPEAT
C
A
T
A
C
C
C
A
C
T
T
T
C
T
A
C
C
A
G
G
C
T
T
G
C
T
C
T
T
T
T
A
G
T
C
T
T
G
T
C
A
T
T
T
C
T
G
T
A
A
7150
A
T
G
G
C
A
C
C
A
T
C
A
T
C
C
C
C
T
T
G
A
T
T
G
C
T
T
C
A
A
C
T
T
A
A
A
G
C
C
T
G
G
G
A
A
T
T
G
T
G
7200
C
T
A
G
T
A
T
T
G
T
C
T
T
T
C
T
T
T
C
T
T
A
C
T
C
C
A
C
T
T
C
C
C
A
C
A
T
T
C
A
G
T
T
A
G
T
C
A
G
C
7250
A
A
G
T
A
C
T
G
T
T
G
A
T
T
C
T
A
G
C
T
A
C
A
A
A
T
C
A
T
C
T
C
A
T
A
A
T
T
T
C
A
T
G
T
T
T
C
T
G
T
7300
C
T
C
C
T
C
T
G
G
C
A
C
C
C
A
C
C
C
T
A
G
T
C
C
A
A
G
T
G
A
C
C
A
T
C
A
T
C
T
T
G
C
T
T
G
T
G
T
G
A
7350
C
T
A
T
G
G
C
A
G
C
C
A
T
T
T
C
C
T
G
C
T
G
G
T
A
T
T
C
T
G
G
T
C
T
C
C
A
G
T
C
T
G
G
T
C
T
T
T
C
C
7400
T
C
A
A
G
T
C
T
T
T
T
G
G
G
T
A
C
G
C
A
G
C
A
CACTCCC TCCACAGGCC C
A
GCACAGAG
7450 |
var(7442):[G:0.01]
ACTGTTCTTA AAGTTAGGAG CACCCTCCAC CTAGGTTACT CTTACTCAGC
7500
CCCCACACCT CAGCTCCAGA TCACTTCTCG AAAGGAAGCC TCCTTGGTCC
7550
CCAGGAGTAG ATCAGGTTCC TACTTTGTC
C
C
T
G
G
C
A
T
C
A
T
G
C
A
T
G
G
C
A
C
A
7600 |
REPEAT
T
A
A
T
A
G
G
T
A
T
T
C
C
A
T
G
A
A
C
A
T
T
T
C
T
T
G
C
A
T
T
G
A
A
T
G
A
G
T
G GGTGGGTAGG
7650
TGGATTGAAT GGATGGACTG ATGGATGATG GATTGGGGAT CAGAGCCTAA
7700
GGAA
G
TATTC AGACCTGGAT CCTTGCAGGT CCTCAGCTCA GGAGGTAGGA
7750 |
var(7705):[A:0.04]
ATGGTCATTG AGGGCTTTGA CACACTAGAT AAACCAAATA GTGCCAGAGG
7800
GTTTAAAGGA AGAAGCTGAC AGTCTTCCTA ACTCTTAACC CCAGCCCTGC
7850
TTCCTAGAGG CAAACACTTT TAACTTCCTG TTTTCCATCC TTTTGAAAAG
7900
CAGTTCCAGG AATTGCTTTG AGTAAGCAAA CTTTCAGATT TGCCATTGAC
7950
GGACCAATGC AAGACAAATG CAAGCTCGTG CAGAGGGAAA AACAAGCATG
8000
GTCTTTTAAA TCAGTAAGGA TGAAAATCAG
A
A
T
C
C
C
A
G
C
T
C
T
G
C
C
A
A
T
T
C
8050 |
REPEAT
C
G
G
A
C
T
G
T
G
T
G
A
C
C
T
T
G
A
G
C
A
G
T
A
G
T
C
C
T
C
T
T
G
G
G
A
C
A
A
C
C
A
A
A
T
T
T
T
C
T
8100
T
A
T
T
T
G
C
A
A
A
A
T
G
C
A
G
C
A
G
T
T
A
G
T
C
T
A
A
G
T
C
C
C
T
T
C
C
A
G
T
T
C
T
AGGTATC
8150
TAGTTCTGTC TCTCTCTCTT CCAACCCCCT TTCCTCCTCA CCTAG
G
A
A
T
G
8200 | Exon 6
E C 215
C
T
T
T
G
A
A
G