CETP 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
A
A
T
G
T
T
C
A
G
A
G
T
A
G
G
C
A
A
T
C
C
C
A
T
A
G
A
G
A
C
A
G
A
A
A
G
C
A
C
A
T
T
T
A
T
G
G
T
T
G
50 |
REPEAT
C
C
A
G
G
A
G
C
T
G
G
G
A
A
A
G
G
G
C
A
G
G
A
T
G
G
G
G
A
A
T
G
A
C
T
G
T
T
T
A
T
T
G
G
A
T
G
T
G
G
100
G
G
C
T
C
T
A
T
T
T
T
G
G
G
G
T
G
A
T
G
A
G
A
A
T
G
T
T
C
T
G
G
A
A
T
T
A
A
A
T
T
C
A
T
G
G
C
T
G
C
150
A
T
A
A
C
A
C
T
G
T
G
A
A
C
A
T
A
C
T
A
A
A
T
G
C
C
C
C
T
G
A
A
T
T
G
T
A
C
A
C
T
T
T
A
A
A
A
T
G
G
200
T
T
A
A
A
G
T
G
G
C
A
A
G
T
T
T
T
C
A
T
T
A
A
G
C
A
G
T
A
A
A
T
T
A
A
A
T
T
C
T
A
C
T
A
C
A
A
T
T
T
250 |
var(220):[C:0.32]
|
var(240):[C:0.30]
T
A
A
A
A
A
GACT AAAAA
A
TAAT TTAAAAAAAG ATTAAATGAG ATAACGCAAA
300 |
var(266):[G:0.03]
AAAGCATTAT CTCGAAAATA CAGCTGATAT TAGTATAATT CTTACTAAGT
350
TTTAAGAGTC TAAGGTGCAG GATTCTAAGT TTAAAGGGAT AGGCTCTTTT
400
GGTTTTTTGG TTTAGTTATT TGGTTTTTTT TTTTAATCCA TTATCCCCAC
450
CCTTGGGAGG CCCCCAGCAC CCAGTCTGCA CTAGAGGATG GGGCCCACCT
500
CCCTTTTCTC TCCAGGCCCA GCCACTGACC ACCAGTACCC TGGCCAGGGG
550
CACCCT
C
GGT CATTGCCCTC CGTGGCCCAA GGAAGGGAAC AGAAACAACA
600 |
var(557):[T:0.22]
GCCAAGAAGA CAATAGCCGC CGGGAAGTCC TCACATTTCT GGAGAAATAG
650
AGCCCATTAA TGAATGAAGT TCCTCCAGCC TGATCGGAGG ACGGGGTGCT
700
GGGGAGGCCT GGGCTAAAGG GCTCACCTCC AGCCCCCACC CTGGCAGGGC
750
CGATGGTACA TGCTCACTCA GTGAGGGGGC TCCAGAGGTC TGTGGGTACG
800
AACCCAAGGG CTGGTGCCCA GGGGCAATCA GCTTATGTCT CTGAGCC
T
TG
850 |
var(848):[C:0.11]
GGAAACAGTG AGGGTCAGC
C
CGGCTCCCCA CGTGCTTCTG GGCAGCTTTG
900 |
var(870):[G:0.02]
GTATTGGAGC AGGTGCAAAC TC
G
GGACTAG GGCAGGACCC CCTGAGAGGC
950 |
var(923):[A:0.44]
GACTGAGCAA GGCCATCCCG ACTCATGTTT CCTTGGCCCT GCCCGGGGCA
1000
CAGCATCCTG CCCACATC
C
C TGCAGCCCTG GCTCCTTCCT AGGGGCTCTG
1050 |
var(1019):[T:0.09]
AGGAGGCAGC ACTTGGCCAT CTGGTCACAG TTGCTGCAGG GCAGTTCTTG
1100
GCCCCAGCTG TAGGTAAAGT ACTGTATGTT GTAATTTTTT GAAAGATAAC
1150
AC
G
TTCACAC AACTCAGAAT TGAAATGCCA CAGACATTCC CCCTCGTCCG
1200 |
var(1153):[A:0.02]
CCCCTTTCCC CCGGATACCC AGTTTCTCCC GGAGGCAGCC AATGATCTCA
1250
GAGGCTGTAT AC
C
C
C
CCCAG AGTTATTTTA TGCATATCAA GGAAAGTCTA
1300 |
var(1263):[A:0.01]
|
var(1265):[A:0.46]
CATAGAGGAC TGTTTCTGG
G
G
T
A
C
C
C
A
G
A
T
G
C
A
G
C
G
T
C
A
A
A
T
G
C
C
A
T
G
G
A
1350 |
REPEAT
A
T
A
C
T
A
C
A
G
T
G
A
G
G
A
C
A
T
T
A
T
C
C
T
T
T
C
A
A
G
C
T
T
T
C
A
A
A
T
C
A
G
A
G
C
A
A
G
G
G
1400
A
A
A
G
G
T
C
G
A
T
G
C
T
A
G
A
G
T
T
T
C
T
C
T
A
G
C
A
C
C
C
A
T
G
A
A
G
C
C
C
T
C
T
C
C
C
T
T
T
T
1450
T
C
T
A
C
T
G
A
G
T
T
T
T
A
C
T
T
T
A
C
A
G
G
C
A
A
C
A
G
C
A
G
G
C
T
T
C
A
A
G
C
T
T
G
G
G
G
T
C
A
1500
T
T
G
T
C
G
G
G
C
A
A
C
A
G
T
A
T
C
T
G
G
C
A
A
G
A
A
T
T
C
A
A
T
G
T
C
T
T
T
T
T
C
T
C
A
T
A
G
T
C
1550
A
T
T
G
T
A
T
T
T
T
G
G
C
C
T
C
T
T
T
C
T
A
T
T
T
A
T
G
G
C
A
A
C
T
G
A
G
A
G
A
G
A
A
A
G
C
T
T
A
T
1600
T
C
C
T
A
G
A
T
A
T
A
T
G
T
A
T
T
T
A
A
G
T
A
A
A
A
A
A
T
A
A
A
T
G
A
A
T
T
C
A
T
G
G
A
A
A
C
A
T
A
1650
T
T
A
A
G
C
A
A
T
T
A
T
C
C
A
G
A
T
A
A
C
A
T
A
A
G
G
G
A
T
G
G
C
A
A
A
A
A
T
G
G
T
G
C
A
G
A
T
G
G
1700
T
GGAGGGGAG ACAAGTAGAA GTTGGGGTGC TCTTGTTGAA TGTCTGGCTC
1750
TGAACTCTAG AGGAGGCCGC AGGGGCTGGG CAGGAAGGAG
G
T
G
A
A
T
C
T
C
T
1800 | Exon 1 |
UTR
G
G
G
G
C
C
A
G
G
A
A
G
A
C
C
C
T
G
C
T
G
C
C
C
G
G
A
A
G
A
G
C
C
T
C
A
T
G
T
T
C
C
G
T
G
G
G
G
G
C
1850
T
G
G
G
C
G
G
A
C
A
T
A
C
A
T
A
T
A
C
G
G
G
C
T
C
C
A
G
G
C
T
G
A
A
C
G
G
C
T
C
G
G
G
C
C
A
C
T
T
A
1900 |
var(1856):[A:0.01]
C
A
C
A
C
C
A
C
T
G
C
C
T
G
A
T
A
A
C
C
A
T
G
C
T
G
G
C
T
G
C
C
A
C
A
G
T
C
C
T
G
A
C
C
C
T
G
G
C
C
1950
M L A A T V L T L A 10
C
T
G
C
T
G
G
G
C
A
A
T
G
C
C
C
A
T
G
C
C
T
G
C
T
C
C
A
A
A
G
G
C
A
C
C
T
C
G
C
A
C
G
A
G
G
C
A
G
G
2000 |
var(1986):[A:0.03]
L L G N A H A C S K G T S H E A G 27
C
A
T
C
G
T
G
T
G
C
C
G
C
A
T
C
A
C
C
A
A
G
C
C
T
G
C
C
C
T
C
C
T
G
G
T
G
T
GT AAGTATCAGT
2050
I V C R I T K P A L L V 39
GCATCTGTCT GCCCTGCCAG GGGTCTTTTC ATGGACACCC ACTATGCCAG
2100
GAGCCTCCCT GGCCTGAAGC CAGCCCTGAA GC
C
GGCTGCC ACACTAGCCC
2150 |
var(2133):[A:0.08]
AGAGAGAGGA GTGCCCTGGG AGGGAGATGG GCTGAG
C
GGA GCTGTCATCA
2200 |
var(2187):[C:0.47]
CCCCCTCCTG ACCTCGCCTT CAAGGTCAAG TTCTTTGGT
G
AGAAGGTCCT
2250 |
var(2240):[A:0.29]
AGCTGCATTG CAAACAGCCA GGTATAGGGA TTTGTGTTTG TCTGAGACCC
2300
AGAATCACTG GGGTTC
G
AGT TAGGGTTCAG ATCTGAGCCA GGTTAGGGGG
2350 |
var(2317):[A:0.31]
TTGAGTCAGG GGGTAAAGAT TAGGAGGTTG GTGTATATTT GGTGTTGGGG
2400
GTCACTCTAT GGCCAAAGTC AGGGGTTGCC ATGAGCTCAG GTGACGGAG
G
2450 |
REPEAT
C
T
C
C
A
T
C
A
C
T
G
A
C
T
G
T
T
G
T
G
T
G
A
C
T
T
T
G
G
C
C
A
G
C
T
C
C
C
C
T
G
C
C
C
T
C
T
C
T
G
2500
G
G
C
C
T
C
A
G
T
C
T
C
T
T
G
C
T
C
A
A
T
A
T
A
A
T
A
A
G
G
G
T
A
T
A
G
G
G
A
G
G
C
T
A
A
A
T
G
A
T
2550
ACAATTTCTA AAATAGAGTA TCGCCAAGTT CAAAAGCCAG AATTATAGAC
2600
CCCCAGGACT ACAGACA
G
TG TCACAGCATC GTCTGGGTGA GGCTAGGGTT
2650 |
var(2618):[A:0.01]
AGTGTGCGGC TGGGCTCAGG GCTGCCCCAT TTGCTAGGAT CGTGGGGTTC
2700
CCATGTGTCA GGATCCAGAG GCTAGGGTAT GATCAGGATC TCTAGCTGGG
2750
GTCAGGGTCA GAGCTCTCTG TGTCCCCTAG AATTGCCATC AACCTTAAAC
2800
CCAGAGGGAG GCCCAGTCCA ACCCCTCAGC TTTAAGACCT GCTGGGAGCC
2850
TCATCTCAGA GAGGCTGAGT CATGGCCAAG GCCAGTTGGG GGTGGGAGCA
2900
GGGGGCTTGG TGTGGGCCTG CAGCCCCTCA TCCACTGCCC TCCCCTCTAG
2950
39
T
G
A
A
C
C
A
C
G
A
G
A
C
T
G
C
C
A
A
G
G
T
G
A
T
C
C
A
G
A
C
C
G
C
C
T
T
C
C
A
G
C
G
A
G
C
C
A
G
C
3000 | Exon 2
L N H E T A K V I Q T A F Q R A S 56
T
A
C
C
C
A
G
A
T
A
T
C
A
C
G
G
G
C
G
A
G
A
A
G
G
C
C
A
T
G
A
T
G
C
T
C
C
T
T
G
G
C
C
A
A
G
T
C
A
A
3050
Y P D I T G E K A M M L L G Q V K 73
G
T
A
T
G
G
G
T
T
G
C
A
C
A
A
GTGAG TCGGGCCTCG GGTGTGACCA GGCTGGGGGT
3100
Y G L H N 78
A
GGGAGGCGG GAGGAACAGC CTGGGGCTTG CCCCCAGCCC ACAGGGAGGA
3150 |
var(3101):[G:0.02]
AAGGCAGCAG CTGGGGGACT CAGGTCTCTC CCCTTGATTT GGAACCAGAG
3200
CCTGACACCT TCCCTACCCC CACCCTCCAT CCCCTGGTGC CCTGGGGGGA
3250
TTTATTGGAG TGTATCAACC TCTCCAACAG CCCCTCTAAG AGTCAGGCTT
3300
CAAAGGGTCC TTTCCCACTG CCCTGGGAAG ATGGAGGTCT TATTTCGGGG
3350
TGAATGGGGG GTAGGGTAGA AAAATCTC
A
A ACAAAATAAG TATTTTTT
T
A
3400 |
var(3379):[-:0.69]
|
var(3399):[A:0.30]
AAAAATGTA
T
A
A
A
T
G
T
T
G
T
T
T
T
C
T
T
A
T
A
G
T
A
C
A
G
A
C
A
G
G
T
C
T
T
G
C
T
A
T
G
T
3450 |
REPEAT
T
G
G
C
C
A
G
G
T
T
G
G
T
C
T
T
G
A
A
C
T
C
T
T
G
G
C
T
T
A
G
C
C
A
G
T
C
C
C
C
C
A
C
C
C
C
A
A
G
C
3500
C
T
AAAATTAG TATCTTGACT TTATTTGGGA TGATGGTAAC AGTCAAGGGT
3550
CGGTTGTGGG CCAGGTGCTT TTACAAACAA
T
ATCCTCACC TTTATCATAT
3600 |
var(3581):[C:0.28]
A
T
T
T
T
T
T
T
C
T
T
T
C
T
T
G
T
T
T
T
T
C
A
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
C
C
T
C
T
G
T
C
3650 |
REPEAT
A
C
T
T
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
A
G
C
T
C
G
T
T
G
C
A
A
C
C
T
C
C
G
T
C
3700 |
var(3686):[C:0.10]
T
C
T
G
G
G
T
T
C
A
A
G
G
A
A
T
T
T
T
C
G
T
G
C
C
T
C
A
G
C
C
T
C
C
A
G
A
G
T
A
G
C
T
G
G
A
A
T
T
A
3750
C
A
G
G
C
A
C
A
C
G
T
C
A
C
C
A
C
A
T
C
C
G
C
G
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
3800
G
G
G
T
T
T
C
A
T
C
A
T
G
T
T
G
G
C
C
A
G
A
C
T
G
G
T
C
T
C
C
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
3850
T
C
C
G
C
C
C
A
C
C
T
C
A
G
T
C
T
C
C
C
G
A
A
G
T
G
C
T
G
G
G
G
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
3900
A
C
G
C
C
T
G
G
C
C
CTTTATCTAT CTTAATCTTT AT
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
3950 |
REPEAT
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
T
4000
C
A
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
4050
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
A
C
G
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
T
A
G
T
A
G
C
4100
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
C
T
T
A
G
4150
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
A
C
C
T
G
G
T
T
G
G
T
C
T
T
A
A
A
C
T
C
C
T
G
A
C
C
4200
T
C
A
A
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
C
C
T
G
G
G
A
T
T
G
C
A
G
G
C
G
T
4250
G
A
G
C
C
A
C
A
G
C
G
T
C
C
G
G
C
C
TA TCTTAATCTT TATCATATAT TTTAGCCTCT
4300
TCTGTAAAAG AGGATAATGC CATCGCCCGG ATGACCCTGC TTAACAAACA
4350
CGGAAACAGG AGCCGATAGA GGTTTAGCAG CCTGGCGGAG CTCATGTGCA
4400
AACTCAGCTC AGTATCGGAA ACTCAGCCAC CTTCATGGCA CCTCAGGCTG
4450
CCCTGGAGCC TGGGTCCCGG TCTGTGTGTC GGTCTGAGGC CCCAAGGGTG
4500
GGGCAGACAT TGTTCAGGGA CCTTGTCTTT GTCTTAAAGC CAATCTCCTC
4550
CTCCTCCCCG GCCCTGCTAA ACACGCTCCC CAGGGGTGGT CTCTGCTACC
4600
CGCGCACATT GGGCCTTGAG TCTTGGTAAA TGTTTCTGAG CCACCAGGGG
4650
GCGCCAGCGG TGCTGGATGC CACTTCGCCT TTTGCAGGAA AACTCCCGCC
4700
GCTAGCGGGT GCTGTGGGGC GTCCCAGGTC TCGCGCAGCC ACGCCCTCTG
4750
TGTGACCTTG GGCTTCAGTT TAGGCTTCTG TAAAAGAGAA
T
AATG
G
G
C
A
A
4800 |
var(4791):[G:0.04]
|
REPEAT
G
G
T
C
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
G
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
T
A
G
4850
G
A
G
G
A
T
T
A
C
C
T
C
A
G
C
C
A
G
G
G
T
T
C
A
A
G
A
C
C
A
C
C
T
G
T
C
T
C
T
A
T
A
A
A
A
A
A
T
T
T
4900
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
C
G
T
G
C
C
T
G
C
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
4950 |
var(4943):[G:0.01]
|
var(4948):[G:0.24]
A
G
G
C
C
A
G
G
G
G
A
G
G
T
C
A
A
G
G
C
T
G
C
G
G
T
G
A
G
C
T
A
T
G
A
T
T
G
C
A
T
C
A
C
T
G
C
A
T
T
5000 |
var(4957):[A:0.01]
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
T
G
T
T
G
C
T
A
A
A
A
A
A
T
A
A
A
A
G
A
G
G
A
T
5050
A
A
TGCTATCC TAGACCTATG TGTTGCAAGA GGTCAGACAT GGCAAAAGCG
5100
TTGAGAAGTT AAAGAAATAG TATCCTTAAT AAATCAGCAA TAATTCAGTA
5150
AGACCAGACT GCCATAGACT AGATGTCATA GTCATTAATA
T
A
T
A
A
C
T
G
T
T
5200 |
NOT SCANNED
A
T
C
C
C
A
A
A
C
G
T
A
T
A
T
G
A
G
T
G
G
G
G
T
A
G
A
A
A
T
A
A
A
A
T
A
T
G
A
T
T
G
G
C
C
A
T
A
A
C
5250
T
A
T
G
A
T
T
G
G
T
C
A
T
G
A
T
T
A
A
T
G
T
T
A
G
A
T
G
A
A
G
T
T
G
G
A
T
A
A
T
G
G
G
T
A
A
G
A
T
G
5300 |
REPEAT
A
G
A
A
T
T
C
T
T
C
A
C
A
C
T
A
T
T
C
T
C
T
C
T
A
A
A
G
C
G
A
A
T
G
G
A
A
T
A
A
A
A
T
A
G
A
A
C
AG
5350
AACAGACCGG GAAAGCCAGA TATATGTGGA TTCTCCTTGC TGGGC
A
C
A
G
T
5400 |
REPEAT
G
T
G
T
C
A
T
A
G
T
G
G
C
T
T
A
T
A
A
T
A
T
G
G
G
A
T
T
T
G
G
A
G
T
G
G
G
A
T
G
G
A
C
C
C
A
G
G
A
T
5450
C
A
A
A
T
T
C
C
C
T
T
C
T
A
C
T
G
A
G
G
T
T
T
T
C
T
G
A
A
G
C
C
A
C
A
T
A
A
G
C
T
G
T
C
T
G
A
G
C
C
5500
A
T
T
T
C
T
G
T
C
T
C
A
G
T
T
C
A
G
T
G
G
G
T
A
C
A
G
C
A
A
T
A
G
T
G
A
C
T
A
C
C
T
C
G
T
G
G
G
T
A
5550
G
C
T
G
T
G
A
G
G
A
T
T
A
A
A
C
C
A
G
G
A
A
A
T
G
T
G
T
A
T
A
A
A
C
T
C
T
A
A
G
C
A
C
A
G
T
G
C
C
T
5600
G
C
C
A
C
A
C
A
G
C
A
T
G
T
G
T
T
T
G
G
T
A
C
G
T
G
A
T
G
G
CCGCTTCTAT TGTGTCATAT
5650
TCCATGTGCT CAAGCCGGGC CCTGGGGGAG AGTTCAGCAA GGGTAGAGGG
5700
ATATGAGAGT GAATGTGGCC CACTGGCCTC CCTGCCTGCA GTCTCTCCTC
5750
TCTGATCCTT GCTTCCTAAG GGTCTTCACT GAGCCCCACC TCTGACCAAG
5800
TCCCCGG
C
G
G
CACAGGCAGC ACAGATCCTC TGCTGTACCT ACACCAAGAC
5850 |
var(5808):[T:0.01]
|
var(5810):[-:0.17]
CCCAGGGCCA ACGCTTCTCC CATTGTGCAG CTCCACCTCT GCCCCCGGGG
5900
CCTAGCTGAG GCCTCCTCCA AGCTGAGCCA CCTACTATCT TCCAAACTCC
5950
CACCCTCCAT CTGGTGTCAC CTCCTCCC
G
G AAGCCCTC
T
G
T
A
T
C
A
G
T
T
T
C
6000 |
var(5979):[A:0.29]
|
REPEAT
|
var(5990):[C:0.01]
C
T
G
T
T
T
T
C
T
G
C
C
A
T
A
A
A
A
A
A
A
A
T
C
A
C
T
C
C
A
A
G
T
T
T
A
G
T
G
G
C
T
T
A
A
C
A
T
G
A
6050
C
A
C
A
A
G
T
T
T
A
C
C
A
T
T
T
T
A
C
A
G
T
T
T
A
A
A
A
G
G
C
T
A
G
A
A
G
T
C
C
A
C
C
A
T
G
G
C
C
C
6100
T
C
C
C
T
G
A
G
C
T
A
A
G
A
T
C
A
A
G
C
T
G
T
C
A
G
C
A
G
A
A
C
C
A
G
A
T
T
C
C
T
T
C
T
G
G
G
G
G
C
6150
T
A
T
A
G
G
G
G
A
G
A
A
T
T
A
A
T
T
C
C
C
T
C
G
C
T
T
T
C
T
G
C
A
G
C
T
T
C
T
A
G
A
G
G
C
T
T
C
C
C
6200 |
var(6175):[T:0.02]
C
C
A
T
T
C
C
T
T
G
G
C
T
T
C
C
C
T
C
C
A
T
C
T
ACTTTT ATTTAGGG
C
G A
G
G
G
A
A
G
C
T
T
6250 |
var(6221):[G:0.01]
|
var(6239):[A:0.02]
|
REPEAT
C
C
T
G
C
T
C
T
G
A
C
T
T
T
C
T
C
A
T
T
T
A
T
G
G
T
A
T
T
C
T
C
C
C
C
T
G
C
T
T
T
C
C
A
G
C
A
G
C
T
6300
G
T
G
A
T
T
G
T
C
C
C
A
A
G
T
C
C
T
G
T
C
C
T
C
T
G
G
T
T
C
T
C
T
A
G
G
C
C
A
G
A
A
A
A
A
C
TATG
6350 |
var(6314):[A:0.42]
ATCTACCAGA GCTCAAGAAC TTGAAAGGGC CTTTTCCCAC TGTCCCTTCT
6400
CACAGTGAGA GCCGGAGCCC AGCTTC
G
TGC TAGAATCTGT GAAAATGGAG
6450 |
var(6427):[A:0.01]
AAATGCACCC TGTGCTGTTC TCTTCCTCCA CCCGGCATCT CCCCTGCAGC
6500
CCGGCTGGGT TTTTTTGTTT GTTTGTTTGT GGG
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
G
T
6550 |
REPEAT
T
T
G
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
T
T
T
G
C
A
C
T
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
6600
G
C
A
C
G
A
T
C
T
C
G
A
C
T
C
A
C
T
G
C
A
A
C
T
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
T
6650
C
C
T
G
C
C
T
C
A
A
C
C
T
C
C
C
G
A
G
C
A
G
C
T
G
G
A
A
C
C
A
C
A
A
G
C
A
T
A
T
G
C
C
A
C
C
A
C
T
C
6700
C
C
G
G
C
T
A
A
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
T
G
C
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
6750
T
C
A
C
C
A
T
G
C
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
A
T
G
A
T
C
C
A
C
6800
C
T
G
C
C
T
C
G
G
C
C
T
T
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
G
G
C
CTG
6850
GC
C
C
A
G
T
C
T
G
A
C
T
G
T
T
T
T
C
A
C
T
T
A
C
T
C
T
C
T
A
A
T
G
T
C
T
C
A
G
G
T
A
G
T
G
T
T
T
A
6900 |
REPEAT
T
T
G
T
A
T
T
C
T
G
T
G
C
G
G
A
G
G
T
C
A
A
G
A
A
T
T
T
A
G
T
C
A
T
C
C
A
A
G
G
A
G
G
T
T
A
G
T
G
T
6950 |
var(6914):[A:0.15]
A
T
T
A
G
G
A
G
C
T
T
A
C
G
C
A
A
C
T
A
T
T
A
C
C
A
G
A
A
G
AGACTCCACT CAAAAATTTG
7000
GTACGT
G
G
C
T
G
G
G
C
G
C
A
G
T
G
G
C
T
C
A
A
A
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
7050 |
REPEAT
G
G
C
C
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
7100
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
T
A
T
C
T
C
T
A
T
T
A
A
A
A
G
T
A
C
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
7150 |
var(7131):[C:0.01]
A
T
G
G
T
G
C
A
T
G
C
C
C
A
T
A
A
T
C
T
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
G
G
A
G
A
A
T
7200
C
A
C
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
A
C
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
C
C
C
G
C
T
G
C
A
7250 |
var(7244):[T:0.25]
C
T
C
C
A
G
C
C
T
G
G
G
C
A
G
C
A
A
G
A
G
C
A
A
A
A
T
T
C
T
G
T
C
A
C
A
CA
C
A CAAACAAACA
7300 |
var(7278):[C:0.02]
|
var(7283):[-:0.83]
|
var(7289):[A:0.14]
AACAAACAAA AAAAACG
G
G
T
T
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
C
C
C
C
A
7350 |
REPEAT
A
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
G
G
A
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
7400
A
C
C
A
G
C
C
T
G
G
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
C
T
C
T
C
T
A
C
T
A
A
A
A
G
T
A
C
A
A
A
A
A
T
7450
T
A
G
C
T
G
G
A
T
G
T
C
G
T
G
G
C
G
G
G
A
G
C
C
T
G
T
A
A
T
T
T
C
A
G
C
T
A
C
T
A
G
G
G
A
G
G
C
T
G
7500
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
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
7550
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
A
G
C
A
A
C
A
G
A
G
C
C
A
G
A
C
T
C
A
G
T
C
T
C
A
A
7600
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
C
A
A
TG GTATGAGCTT TAAATTTCTG TAGAACTGAA
7650 |
var(7616):[A:0.16]
AGAGGATTGG AGATTGTAGT AGGGTCTAAT TCTAAATTAG AGCATTTAGA
7700
ATAATGT
G
G
A
G
T
C
T
G
G
T
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
C
C
C
C
A
A
T
C
T
G
C
A
C
A
A
A
A
7750 |
NOT SCANNED
|
REPEAT
A
A
G
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
G
T
G
T
T
G
G
T
G
C
A
T
G
C
C
T
G
T
G
G
T
C
C
C
A
G
C
T
A
7800
T
T
C
C
A
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
A
G
A
T
C
G
T
T
G
G
A
A
T
T
C
G
A
G
G
C
T
G
C
A
G
T
G
A
A
C
7850
T
G
T
G
A
T
T
A
C
A
C
A
A
C
T
G
C
A
C
T
C
T
G
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
A
G
C
C
A
C
C
C
T
A
T
C
7900
T
C
A
A
A
C
A
A
G
A
A
A
G
A
A
C
A
A
A
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
G
A
A
G
A
A
G
A
A
T
T
T
G
7950
G
A
G
C
A
A
T
C
T
A
G
T
T
G
T
T
T
C
C
T
A
T
A
C
C
A
G
A
A
G
T
C
T
T
T
G
C
C
A
A
T
C
T
A
T
T
T
T
T
T
8000
T
T
T
A
A
T
T
T
T
A
T
T
T
T
T
A
A
T
T
T
T
T
G
T
G
A
G
T
A
C
A
T
A
G
T
A
G
G
A
G
T
A
T
A
T
A
T
T
T
A
8050 |
REPEAT
T
G
G
G
G
T
A
C
A
T
G
A
G
A
G
T
A
C
A
T
A
G
T
A
G
G
A
G
T
A
T
A
T
A
T
T
T
A
T
G
G
G
G
T
A
C
A
T
G
A
8100 |
REPEAT
G
A
T
G
T
T
T
T
G
A
T
A
T
A
G
A
C
C
T
G
C
A
A
C
G
T
TTTG TCAATCTA
T
T
T
T
T
T
T
T
T
T
G
G
8150 |
REPEAT
C
G
A
C
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
T
A
A
T
G
G
C
G
C
G
A
T
C
T
C
A
G
8200 |
var(8184):[C:0.14]
C
T
C
A
C
T
G
C
A
A
C
T
T
C
C
G
C
C
T
C
G
T
G
G
G
T
T
C
A
G
G
C
T
A
T
T
C
T
C
C
T
G
C
C
T
T
A
G
C
C
8250
T
C
C
A
A
A
C
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
A
C
G
C
C
C
A
C
C
A
T
C
A
T
G
C
C
C
G
G
T
T
A
A
T
T
T
T
8300 |
var(8274):[T:0.20]
T
T
T
G
T
A
T
T
T
T
T
G
T
G
G
A
G
A
C
G
A
G
A
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
A
T
8350 |
var(8331):[G:0.01]
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
C
T
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
8400
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
G
C
TGGCCC ACCAA
C
CTAT TTTTGATCTA
8450 |
var(8436):[A:0.28]
ACTTTACCTC TGGTGGTGTA TTGATACTCT TCCGAATCAA TTTTCACCCT
8500
TCTTCATATA CCATTTACAT TTCT
A
A
G
A
A
T
T
T
G
T
C
C
A
T
T
T
C
A
T
T
T
C
A
T
C
T
8550 |
REPEAT
A
G
T
T
A
A
C
C
T
C
A
T
T
T
G
T
T
G
A
C
A
T
A
C
A
A
T
T
G
T
T
C
G
T
A
G
T
A
T
T
C
T
C
T
C
A
T
A
A
T
8600
T
C
C
T
T
T
T
A
T
T
T
C
T
G
T
A
A
G
A
C
T
G
G
T
A
A
T
A
A
T
G
G
C
C
T
T
G
C
T
T
T
T
A
T
T
T
C
T
G
T
8650
T
T
T
T
A
G
T
A
A
T
T
T
G
A
G
T
C
T
T
C
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
C
C
A
G
T
G
T
A
G
C
T
8700 |
var(8695):[C:0.44]
A
A
A
G
G
T
T
T
G
T
T
G
A
T
T
T
T
G
T
T
G
A
T
C
T
T
T
T
G
G
A
A
A
A
A
C
C
A
G
C
T
A
T
T
G
T
T
T
T
C
8750 |
var(8742):[G:0.02]
A
C
C
G
A
T
T
G
T
T
G
T
T
G
T
T
G
T
T
C
T
A
T
T
A
T
T
T
C
A
T
T
C
A
T
A
G
G
C
A
C
T
A
A
G
A
T
C
C
T
8800 |
var(8764):[T:0.06]
G
A
T
T
A
C
T
T
C
C
T
T
C
C
T
T
C
T
G
C
T
A
G
C
T
T
T
G
G
G
C
T
T
A
G
T
T
T
G
C
C
C
T
T
A
T
T
T
T
T
8850
C
A
A
G
T
T
C
C
A
T
A
A
G
G
T
G
G
A
A
A
G
T
T
T
G
A
T
T
A
T
T
G
A
G
T
T
G
A
G
A
T
C
T
T
T
C
T
C
T
T
8900
T
T
T
T
A
A
A
G
A
T
A
G
G
C
A
T
T
T
C
T
A
G
A
T
A
T
A
A
A
T
C
T
C
C
C
T
G
T
G
A
G
C
A
C
GGT
T
C
C
8950 |
REPEAT
C
T
C
C
A
T
C
T
T
C
A
G
C
A
C
A
C
C
A
G
G
G
T
T
G
A
C
T
C
T
C
T
C
C
G
G
G
C
G
T
T
C
T
T
C
C
C
T
G
G
9000 |
var(8985):[A:0.01]
T
C
A
C
C
T
C
T
C
C
C
C
T
T
C
C
T
C
T
C
C
T
C
T
T
C
T
G
C
C
T
C
C
T
C
T
T
C
C
A
C
T
T
T
T
C
G
G
T
A
9050
C
C
C
T
G
T
G
A
T
T
G
T
A
T
T
G
G
G
A
C
C
A
C
C
C
A
G
A
T
A
A
C
C
T
A
G
G
A
T
C
A
T
C
T
C
C
C
C
A
C
9100 |
var(9057):[T:0.02]
C
T
A
C
C
C
C
A
A
G
G
T
C
C
T
T
A
A
C
T
T
A
A
C
C
A
T
A
C
T
T
T
C
A
T
A
T
G
G
G
T
A
A
C
A
C
G
A
G
T
9150
T
G
A
G
T
G
T
G
G
T
A
C
C
C
A
G
G
G
T
T
T
G
A
C
A
T
G
T
T
G
G
G
T
A
A
C
A
T
A
T
T
T
G
C
A
G
G
T
T
C
9200 |
var(9178):[C:0.06]
T
G
T
G
G
A
T
T
A
G
G
A
G
G
A
C
A
T
T
T
T
G
G
G
G
G
C
C
A
T
G
A
T
T
C
T
A
T
C
T
T
C
C
A
C
CCTCG
9250
CCTAGACAAA ATTGGAGGCT CACTCCTTGG GCTCCCTGGA TGACCCCCAA
9300
CATCCTTCCT CACTTCCATT CCTTCCCAG
C
A
T
C
C
A
G
A
T
C
A
G
C
C
A
C
T
T
G
T
C
9350 | Exon 3
I Q I S H L S 85
C
A
T
C
G
C
C
A
G
C
A
G
C
C
A
G
G
T
G
G
A
G
C
T
G
G
T
G
G
A
A
G
C
C
A
A
G
T
C
C
A
T
T
G
A
T
G
T
C
T
9400
I A S S Q V E L V E A K S I D V 101
C
C
A
T
T
C
A
G
A
A
C
G
T
G
T
C
T
G
T
G
G
T
C
T
T
C
A
A
G
G
G
G
A
C
C
C
T
G
A
A
G
T
A
T
G
G
C
T
A
C
9450
S I Q N V S V V F K G T L K Y G Y 118
A
C
C
A
C
T
G
C
C
T
G
G
T
G
GTAAGC ATTCCTGTCA GCTGATGCCC CA
T
GCCCTGG
9500 |
var(9493):[C:0.01]
T T A W W 123
CCCTCTCTGG GCTGGAGGGC TGAATGAGGG TCCTGGGTCC TTGGCTCTTT
9550
CCAG
G
C
T
G
G
G
T
A
T
T
G
A
T
C
A
G
T
C
C
A
T
T
G
A
C
T
T
C
G
A
G
A
T
C
G
A
C
T
C
T
G
C
C
A
T
T
9600 | Exon 4
L G I D Q S I D F E I D S A I 138
G
A
C
C
T
C
C
A
G
A
T
C
A
A
C
A
C
A
C
A
G
C
T
G
A
GTATG TGTCAAGCGT CCTCTGGGGA
9650
D L Q I N T Q L 146
AGTGGGAGCT GGACTCCAGG GCTTGGCCTC AGCAGAGGGG GAGGTTGTGC
9700
AGGCAGAGGG TTCTGGGGCC ACCAAAGGAG GCCCAGCCTG GGAAGTTTGC
9750
AGGG
T
TGGGG ACCCCAGAGC TGGCCAAGCT CTTGACTGGC CTGGGCAGCA
9800 |
var(9755):[G:0.04]
TGTGGATACC ATCTGATAGC GGAGGCTGCC CTGAGGTCAT GTCGGGTCTC
9850
CCTGCAG
C
C
T
G
T
G
A
C
T
C
T
G
G
T
A
G
A
G
T
G
C
G
G
A
C
C
G
A
T
G
C
C
C
C
T
G
A
C
T
G
C
T
A
9900 | Exon 5
T C D S G R V R T D A P D C Y 161
C
C
T
G
T
C
T
T
T
C
C
A
T
A
A
G
C
T
G
C
T
C
C
T
G
C
A
T
C
T
C
C
A
A
G
G
G
G
A
G
C
G
A
G
A
GTAAG
9950
L S F H K L L L H L Q G E R E 176
TACACCACCC TGTGGCCCCC ATTCCTGCTC GTGCCCATCC TGTTAGTGTG
10000
TCCACGGCCC CCTCCAGGCT CAACCCCACA CAGGGCATGC TTGTGGGTGG
10050
CCAAACCTGA GGGCAGCAAT ACCTTCAGTG GGGTCACTTC CTACCCCCTC
10100
CCATCAATAC ACCCTCAAAG GCTGGAAACA ACAATAACCA ACAGC
T
A
G
T
A
10150 |
REPEAT
A
C
T
A
A
C
A
G
C
T
A
T
T
A
A
G
A
A
C
T
T
G
C
T
G
T
G
T
G
C
A
A
A
G
C
A
C
T
A
T
T
C
C
A
A
G
C
C
C
T
10200
T
T
T
C
A
T
G
A
A
T
T
A
A
T
T
G
A
T
T
T
T
G
T
C
C
T
T
A
A
A
A
C
C
A
A
C
C
C
T
A
G
G
A
T
A
T
A
G
A
T
10250
T
C
T
G
T
T
A
T
C
A
T
C
C
C
C
T
T
T
T
T
A
C
A
T
A
T
G
G
G
T
A
A
A
C
T
G
A
G
T
C
A
C
A
G
A
G
A
G
G
T
10300
T
A
GAAAGGAA AAGCTCATAT CTACGGAGTG CATCCTGCAT TCCAAGCACC
10350
ACACTAACTC AGAGATAAAA CTCTAGCC
A
A
G
C
T
A
A
G
T
A
A
C
T
T
G
C
T
G
A
G
G
A
10400 |
REPEAT
C
A
C
A
C
A
A
C
T
C
G
C
C
A
C
T
A
A
G
G
G
A
T
G
G
G
A
G
T
A
G
G
A
T
T
T
G
A
A
C
C
C
A
G
C
A
T
T
C
T
10450
C
T
G
A
C
C
C
C
A
G
A
A
G
C
T
G
A
G
T
T
C
C
T
A
G
A
T
A
C
T
T
T
A
C
T
C
T
C
C
T
G
CTTCCCAGG
10500 |
var(10491):[A:0.03]
GTGGGGCTTT TTGTCTTGGC CAACACCCTC TGTCAAGGAG CTGTGGGTAA
10550
CCCCATTGCA CAGAGGAAGA TAACAAGGTT TGGAGAGTCC CTAGTCATGT
10600
TACCAATGCC AAACCTGGAA GGCAGAAGGG AACTGGTGGG TGGGGTCTGG
10650
AGAGGAGCCC TCTATTCAGG CCATTTTCTG ACTCTGGAGC AGA
C
GGATAC
10700 |
var(10694):[T:0.03]
ATGTATGAAT TTGGACTCTA GACACGTTCT CGTGTGTGTG ACAGGTGTGA
10750
GCGTCACAGG AGCTGGGCCC TCCCGAGG
A
A TTCTGGGATG GTGCCACAGT
10800 |
var(10779):[G:0.03]
TAATTCTTGG G
T
C
T
G
A
G
G
C
T
C
C
G
T
G
T
T
C
T
C
A
G
C
T
G
C
A
A
A
A
T
G
G
G
A
G
T
G
A
T
10850 |
REPEAT
A
A
T
T
C
T
T
A
C
T
T
C
C
T
G
A
G
C
T
A
C
A
A
G
A
G
T
C
A
G
G
G
C
C
A
A
C
A
G
A
G
C
C
A
T
G
A
A
C
G
10900
G
T
G
C
C
T
G
G
T
A
C
A
C
A
C
T
A
G
G
C
G
C
T
C
C
A
T
G
G
A
T
G
C
A
CAGGAC TGGTCAGGGG
10950 |
var(10921):[A:0.24]
|
var(10924):[T:0.01]
|
var(10934):[G:0.01]
CTCATTGTGG TGCTTGCTGC CTTCAG
G
C
C
T
G
G
G
T
G
G
A
T
C
A
A
G
C
A
G
C
T
G
T
T
11000 | Exon 6
P G W I K Q L F 184
C
A
C
A
A
A
T
T
T
C
A
T
C
T
C
C
T
T
C
A
C
C
C
T
G
A
A
G
C
T
G
G
T
C
C
T
G
A
A
G
G
G
A
C
A
G
GTGA
11050
T N F I S F T L K L V L K G Q 199
GTGAGGCTGG CTGACTCCCT GTGGTCCAGG GCCATGCCAG GAGGCTGGAT
11100
CCCTTTCCTC CCTGCCTTTC CCTGAGAAGG TGCCACTCCC ACCTTCTCCA
11150
TGTGGCCAGT CCCCTGTGCC GGTCCCCAGC ACTGCCACCA CCACGCAGCT
11200
GGAAGGAGGC ACTGCCTCTG GCCTCCTTTC CTGCCTGGAA AGCACCTGCT
11250
CTGTCTGCCC CAG
A
T
C
T
G
C
A
A
A
G
A
G
A
T
C
A
A
C
G
T
C
A
T
C
T
C
T
A
A
C
A
T
C
A
T
G
G
11300 | Exon 7
I C K E I N V I S N I M 211
C
C
G
A
T
T
T
T
G
T
C
C
A
G
A
C
A
A
G
G
G
C
T
G
GTGAGT G
C
GTTTCTGT CTGCATGCCT
11350 |
var(11332):[T:0.24]
A D F V Q T R A 219
CAGAAGACAG CAGTGGGAGC CAGAAAGCCA CCTGCTGCAC TATGTGGCCT
11400
TGGGACTGTC ACTCTTCCTG TCTAGGTCCC ATGGGCTCTA TCTGGCTCTG
11450
ACACT
T
GATG ATTAGTTATG AGCATACTTT GGCAAATCTC TGCCCCTTTG
11500 |
var(11456):[C:0.02]
GGCTGCAGC
C
TCACAAGCTG TGTGGCGTTG GGCAAGTCTA TAGAACTCAG
11550 |
var(11510):[A:0.25]
GACAAATGGG TGATTAAGTC CAAGAGGACT
C
CAAGATTCT CCTGGAAGTA
11600 |
var(11581):[T:0.06]
GATTAGGAAA AAAGATAATT AGATTGCTCA CATGGCTGGG CACTCATCCA
11650
T
GTACTGTAC TCTCCTATGC AGTACAGAGC AGAGCTGGGT TTCAGCCCAA
11700 |
var(11651):[C:0.07]
GTCTTGGACT CTGCTCTGAA CCAACCTTCT AGAAGGGCTC TACCTACCCA
11750
GACAGACAGA CTTGGGAAAA GAGAGAATGA AAAAGTGCCA CACC
C
CTCCC
11800 |
var(11795):[G:0.01]
CGCACACCCA GGTCCCACTT TACAGAGGGG AACACTGAGG CTGGAGGGTT
11850
GGGTAGCTGT GTGGATGCAG GGGAGCGGTG ACTCAGGGCA ATTCCCCCAT
11900
CCTGAGGCCC TG
C
GTTGATC TTTTCCTCCT GCAG
C
C
A
G
C
A
T
C
C
T
T
T
C
A
G
A
11950 |
var(11913):[T:0.05]
| Exon 8
A S I L S D 225
T
G
G
A
G
A
C
A
T
T
G
G
G
G
T
G
G
A
C
A
T
T
T
C
C
C
T
G
A
C
A
G
G
T
G
A
T
C
C
C
G
T
C
A
T
C
A
C
A
G
12000
G D I G V D I S L T G D P V I T 241
C
C
T
C
C
T
A
C
C
T
G
G
A
G
T
C
C
C
A
T
C
A
C
A
A
G
GTAG GAGTTGTGGG AGGGTGGGGC
12050
A S Y L E S H H K 250
AGGGCCCAGC TTCCCCAGGG GAGTTGGTCC TTTTTTGTGC TCTGACAACC
12100
CC
G
TCCCCCA GCTTCAACCT TATGGCAGCC AAGAGTCCTG GGGCGCTCCT
12150 |
var(12103):[A:0.03]
CCTCATTCCT GATGCTCCTC CGCATTCCTG ATGCTGCGAG GAGGGCAGGC
12200
CACAGCGACG TGCCCCTGAC CCCTCTCTGC AGGCACCAGG GCTGCCCACT
12250
ACAAGGATCC CAGCAAAGCA CCAGCTCCTT CCTAGAGGGC TTATTCGGCT
12300
TCTGTCATCC TCTACAGCAG TGGATTGTGG CCCCCCCCCA GGGGGTACTG
12350
ACAAAAGCTT TGGACCCTC
T
A
T
T
A
C
T
T
A
G
G
A
T
A
T
A
G
A
T
T
T
C
T
G
T
A
A
C
A
A
A
12400 |
REPEAT
G
A
A
A
T
C
C
G
A
A
A
T
A
A
T
A
G
C
T
G
C
T
T
A
A
A
C
A
C
A
A
T
A
A
A
C
A
G
T
T
A
T
T
T
C
C
C
T
C
T
12450
G
T
T
G
C
G
T
T
C
T
G
A
G
C
A
T
C
T
G
C
A
G
C
C
C
C
G
C
G
G
G
A
T
C
A
G
G
A
G
G
C
T
G
C
A
G
G
G
T
G
12500
T
C
A
G
G
C
A
C
G
C
A
G
G
C
C
C
C
T
T
C
C
A
C
G
T
G
T
T
C
T
C
A
G
C
C
A
G
C
C
C
C
A
G
G
C
A
T
G
A
C
12550 |
NOT SCANNED
C
T
C
A
T
C
C
C
A
G
G
G
T
C
C
T
G
G
C
T
G
A
C
T
G
G
C
C
T
G
A
C
C
A
C
C
A
C
A
C
C
C
A
C
T
C
T
G
C
T
12600 |
REPEAT
C
A
C
A
G
C
C
C
G
T
T
G
G
C
C
T
G
A
A
C
C
T
G
A
T
C
G
C
A
G
G
A
C
C
C
C
A
C
C
C
T
A
G
C
T
G
C
A
A
G
12650
G
G
A
A
A
C
T
G
A
G
G
A
A
T
T
T
A
T
T
T
C
A
G
C
T
A
A
A
T
A
T
T
G
A
G
A
C
C
A
G
C
T
A
A
A
A
G
T
T
A
12700
A
G
T
G
G
T
A
C
A
G
A
A
T
G
G
A
G
G
G
A
G
A
G
A
T
T
G
G
A
G
A
A
G
A
C
T
T
T
A
G
G
G
C
G
G
A
C
C
C
A
12750
G
C
C
A
T
C
T
T
T
G
T
A
A
C
A
GAGCC TCTCCCTGGA AAACTGGACA GAAGGATCAT
12800
TTCAGAGGTT CATGGCCACT CCTGAAGCCT GTTCACAACC CATGGGCTGG
12850
ATGATCTAGT GGGGCGGGGG ACTGGGCAGC AGCTTGTTTT CCTGATTTTG
12900
GCCTCCAGGA GCCGATGGTC AATGGACTGC CCTCTGCAGG GGCAGGGCTG
12950
GTGGTCAGCT GGGGCGGGGT GGGAGCTGGA GGTCCGTGGT CACCAGCTGC
13000
CCTGACTAAT GTCGTT
A
C
T
T
G
A
A
T
A
T
A
A
C
C
C
T
G
T
G
A
A
G
G
C
A
G
G
A
A
C
C
A
C
G
13050 |
REPEAT
T
C
T
G
T
C
T
G
G
T
T
C
A
C
T
T
C
C
C
A
C
G
G
T
G
G
T
T
G
A
G
A
C
A
T
A
G
T
G
G
G
C
A
C
T
C
C
G
G
A
13100
A
G
T
A
T
T
T
G
T
T
G
A
A
T
G
A
G
T
G
A
A
AGCCCCGCT GGGGGAAACT GGGTACAGCT
13150
CTTTCCTCAG TTTCCCCATC TGCACTCTGG GCTGAATGCT GGGGCTCCTC
13200
CCAATCTCCC TGAAGCTGGA CCTGAGCCCA GTAGGGACAC ACAGGGTCCA
13250
GCCAGCGTCC TGGCTTCCTC CAG
G
G
T
C
A
T
T
T
C
A
T
C
T
A
C
A
A
G
A
A
T
G
T
C
T
C
A
13300 | Exon 9
G H F I Y K N V S 259
G
A
G
G
A
C
C
T
C
C
C
C
C
T
C
C
C
C
A
C
C
T
T
C
T
C
G
C
C
C
A
C
A
C
T
G
C
T
G
G
G
G
G
A
C
T
C
C
C
G
13350
E D L P L P T F S P T L L G D S R 276
C
A
T
G
C
T
G
T
A
C
T
T
C
T
G
G
T
T
C
T
C
T
G
A
G
C
G
A
G
T
C
T
T
C
C
A
C
T
C
G
C
T
G
G
C
C
A
A
G
G
13400 |
var(13384):[T:0.06]
M L Y F W F S E R V F H S L A K 292
T
A
G
C
T
T
T
C
C
A
G
G
A
T
G
G
C
C
G
C
C
T
C
A
T
G
C
T
C
A
G
C
C
T
G
A
T
G
G
G
A
G
A
C
G
A
G
T
T
C
13450
V A F Q D G R L M L S L M G D E F 309
A
A
G
GTGAGTG GGTGGGGCTG GGCTGC
T
AGG G
A
ATCCAGAT GGCATGTGGT
13500 |
var(13477):[G:0.22]
|
var(13482):[G:0.25]
K 310
ATGTGTGTGT GTGCACACGC ATGGGGAGGA GGGAGGAAAC TC
G
GAAACTT
13550 |
var(13543):[A:0.01]
GGTGGTGGGC AAAAGAACTA AGCTGGAGCA ATAGCAGTGA AGTCCA
G
A
C
T
13600 |
REPEAT
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
A
T
C
C
T
T
T
G
G
G
A
A
G
C
T
G
A
G
A
T
G
13650 |
var(13641):[G:0.44]
|
REPEAT
T
A
G
C
A
G
G
A
C
G
A
A
C
C
G
C
A
G
A
C
A
A
A
A
C
T
C
C
T
C
A
G
A
C
A
C
T
G
A
G
T
T
A
A
A
G
A
A
G
G
13700 |
var(13683):[G:0.01]
A
A
A
G
A
G
T
T
T
A
T
T
C
A
G
C
C
G
G
G
A
G
C
A
T
G
G
G
T
A
A
G
A
C
T
C
C
T
G
T
C
T
C
A
A
G
A
G
C
G
13750 |
var(13717):[T:0.01]
|
var(13749):[T:0.01]
G
A
G
C
T
C
T
C
C
G
A
G
T
G
A
G
C
A
A
T
T
C
C
T
G
T
C
C
C
T
T
T
T
A
A
G
G
G
C
T
C
A
C
A
A
C
T
C
T
A
13800 |
var(13765):[C:0.49]
A
G
G
G
G
G
T
C
T
G
C
A
T
G
A
G
A
G
G
G
T
C
G
T
G
A
T
C
T
A
T
T
G
A
G
C
A
A
G
T
A
G
C
A
G
G
T
A
C
G
13850
T
G
A
C
T
G
G
G
G
G
C
T
G
C
A
T
G
C
A
C
C
G
G
T
A
A
T
C
A
G
A
A
C
G
A
A
A
C
A
G
A
A
C
A
G
G
A
C
A
G
13900
G
G
A
T
T
T
T
T
A
C
A
A
T
G
C
T
C
T
T
T
C
A
T
G
C
A
A
T
G
T
C
T
G
G
A
A
T
C
T
A
T
A
G
A
T
A
A
C
A
T
13950
A
A
C
T
G
G
T
T
A
G
G
T
C
A
G
G
G
G
T
C
C
A
T
C
T
T
T
A
A
C
T
A
C
C
A
G
G
C
T
T
A
G
G
T
C
A
G
G
T
A
14000
G
G
C
C
C
A
G
G
C
C
T
G
G
T
T
T
C
G
G
G
T
C
T
G
G
T
T
C
C
T
T
G
G
T
T
T
C
G
G
G
T
C
T
G
G
T
C
T
C
T
14050
A
G
G
C
G
T
T
G
G
G
C
T
A
C
C
T
G
C
C
T
T
T
A
G
T
T
T
C
G
C
T
T
C
T
C
T
T
T
C
T
T
T
T
T
C
T
G
A
G
T
14100 |
var(14079):[A:0.47]
A
T
A
A
A
A
C
A
A
T
A
T
A
A
A
A
C
A
A
T
A
T
G
A
G
A
G
G
G
T
C
T
G
T
C
T
C
T
C
T
T
C
T
C
T
C
A
G
A
G
14150 |
REPEAT
A
C
A
G
G
A
G
G
G
T
C
C
C
T
G
G
A
G
G
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
14200 |
var(14192):[A:0.03]
G
G
G
A
G
A
C
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
T
A
A
A
A
A
T
A
A
G
T
T
T
A
A
A
A
A
T
C
A
G
C
T
G
T
14250 |
var(14210):[T:0.01]
G
C
A
C
G
G
C
A
G
T
G
C
A
T
A
C
C
T
A
T
A
G
T
C
C
C
A
A
C
T
A
C
T
C
A
G
G
T
G
G
C
T
G
A
G
G
A
G
G
G
14300 |
var(14258):[G:0.32]
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
T
G
G
C
A
C
14350 |
var(14318):[A:0.26]
C
A
C
T
G
C
A
C
T
C
C
A
G
T
G
T
G
G
G
T
G
A
C
A
G
A
G
T
A
G
G
A
C
T
C
C
A
T
C
T
C
A
A
G
A
A
A
A
A
A
14400
A
TACAGTCCA GCATTTATTG GAGTCAACTA TGTGTTGCCA GATAGATAGA
14450
TGGATAGATA GACAGAGTGA TCAATAGATT TAGGTATAGA TATAACTTGG
14500
CACGTAGTAA CTGTGCATTA AATATAAGTT GATATTAG
T
C TTACATTTAT
14550 |
var(14539):[A:0.16]
TGCAGTTATA TTTGCTACAC TTTGTTTTGT TGCACTC
A
T
C
C
T
G
T
G
A
A
A
T
A
14600 |
REPEAT
A
G
T
A
C
T
G
T
T
A
C
C
T
C
T
G
T
T
T
T
G
C
A
A
A
C
A
A
A
A
A
A
A
C
C
A
C
A
A
A
G
C
T
C
A
G
A
G
A
A
14650
G
G
T
A
G
G
T
G
A
C
T
T
A
C
T
G
A
A
G
A
T
C
A
C
A
C
A
G
C
C
T
G
T
A
A
G
A
G
G
T
G
G
CCCCAAAG
14700
CCTGTACTCT TCACCTATAC TGTACTAGAA ATGCTTAGGT AGTTTCCAGG
14750
CTGTGCTTG
T
C
A
T
T
G
A
A
C
T
C
A
T
G
A
G
G
A
A
A
C
T
G
A
G
G
C
C
C
A
C
A
G
A
G
G
G
G
A
A
G
14800 |
REPEAT
A
G
A
C
T
T
G
T
G
C
G
A
G
G
T
C
A
C
A
C
A
G
C
A
T
G
T
G
T
G
G
G
G
C
A
C
A
G
T
G
G
G
G
A
G
C
A
G
A
A
14850
G
C
C
A
G
G
C
C
T
C
C
A
G
C
C
G
G
G
A
C
A
G
G
G
G
T
T
C
C
C
T
G
T
T
C
C
A
C
A
C
C
C
T
G
C
C
CAGA
14900
GCATCTCACA TGTTGTCTGG GAGGTTGGGA GTTGCGTCTG AGGAGGGGTC
14950
CAGTCCTTGA AACTGCCCTT GGTCCCTGCG AAGTTTTCTT CTGAGGAGTG
15000
GACTTTACTC CACCCACCCT CCAACTTCCT CATTTCTTTT CAG
G
C
A
G
T
G
C
15050 | Exon 10
A V 312
T
G
G
A
G
A
C
C
T
G
G
G
G
C
T
T
C
A
A
C
A
C
C
A
A
C
C
A
G
G
A
A
A
T
C
T
T
C
C
A
A
G
A
G
GTAACT
15100
L E T W G F N T N Q E I F Q E 327
GCCCCCTGCC CCTGTGTGGG GTTTATCTCA CGTACCCCAA TCCTGCTCTG
15150
GCTTCAAGAG CCCCCACACA GCCAATAACA CCACCAATGG CAACAATT
A
T
15200 |
REPEAT
A
A
C
A
G
C
G
A
A
C
A
C
A
G
C
T
C
C
T
A
C
T
C
G
G
T
T
G
T
T
C
G
G
C
A
T
G
G
A
G
T
G
A
A
G
C
A
C
T
T
15250 |
var(15231):[T:0.02]
A
G
T
G
T
G
T
G
T
G
A
C
T
T
C
C
T
T
C
A
G
T
G
C
T
C
A
C
A
C
C
G
A
C
C
C
T
A
T
G
A
G
T
G
G
G
G
C
G
G
15300
T
C
A
A
A
C
T
G
T
C
C
C
C
A
T
T
T
T
A
C
A
C
A
C
A
G
G
G
A
A
A
C
T
T
A
G
T
G
A
A
T
G
G
C
A
A
G
G
C
T
15350
G
G
G
T
TTGAGC CCAGCTCTAT TGCCCCCAAA GATAAGGCTC CATTCCCTGC
15400
TCCATT
A
CCC AGGCATAG
G
G ACTTGTAGGG GGCTGGAACC CCAGGATCAA
15450 |
var(15407):[T:0.39]
|
var(15419):[A:0.33]
CTCTGGGCTC AGAGGGCCCC AGCAATAAGT GACTGTTGAT TACTCCTGAT
15500
CCCAAAGCTG ACTTCAGGCA AGCTCCTTGG AGGTCGCAGC C
C
CTTCTTGC
15550 |
var(15542):[T:0.04]
TATGCCCAGT GGCAATGATG TTCATAATCC CACTCCTCAG TGCAG
G
G
T
T
C
15600 |
REPEAT
C
A
C
T
A
A
G
A
A
C
C
C
A
T
G
A
T
C
T
C
C
T
A
C
C
T
C
A
A
A
T
G
G
A
C
C
T
C
A
T
G
C
T
T
T
C
T
G
A
G
15650 |
var(15639):[G:0.05]
T
A
A
G
C
C
T
C
C
C
T
C
A
G
C
T
T
T
C
T
G
G
T
C
A
C
C
T
C
A
C
T
C
C
C
C
C
C
A
C
C
C
A
C
T
G
C
A
A
T
15700 |
var(15689):[-:0.61]
G
A
C
T
T
C
T
T
C
A
G
G
C
C
T
T
C
C
C
T
G
C
C
A
T
C
C
T
C
A
A
A
T
C
T
C
C
A
G
C
T
G
C
C
C
C
C
T
C
C
15750
T
G
T
C
T
A
C
C
T
T
C
C
A
C
T
T
C
C
C
T
C
T
C
C
A
C
A
C
A
C
A
A
C
C
T
G
C
T
T
A
C
C
A
G
A
G
A
G
C
T
15800 |
var(15800):[A:0.13]
G
A
G
C
A
G
A
G
C
C
A
C
C
A
A
C
A
G
A
A
C
T
T
C
C
C
C
C
C
C
A
C
G
T
C
G
C
T
G
C
T
C
C
C
A
G
T
C
G
C
15850 |
var(15830):[A:0.08]
A
A
C
C
C
A
C
T
C
A
C
C
C
A
C
A
C
C
T
G
C
G
C
C
T
T
C
C
T
G
C
G
G
C
C
G
T
T
C
T
C
C
T
G
T
T
C
T
A
A
15900
C
A
G
A
G
G
A
C
G
G
T
C
C
C
T
C
T
T
C
C
C
T
T
C
T
G
A
A
C
T
C
A
G
G
C
C
G
T
C
C
A
G
C
C
T
T
C
C
C
C
15950 |
var(15913):[G:0.06]
|
REPEAT
G
G
C
T
C
T
G
T
G
A
T
G
T
C
T
C
T
C
T
C
C
C
T
G
C
A
C
A
T
A
C
A
C
A
A
C
T
C
A
C
A
A
T
A
T
T
G
G
G
C
16000 |
var(15963):[C:0.39]
|
var(15972):[T:0.37]
A
G
G
C
C
C
C
T
G
A
C
C
G
G
C
T
C
T
T
C
T
C
C
C
T
T
A
G
C
C
C
C
T
T
G
T
C
T
G
A
G
T
C
C
T
G
T
T
C
C
16050 |
var(16016):[C:0.25]
T
T
T
G
A
T
G
T
C
C
T
A
T
T
T
C
T
A
G
T
C
T
T
T
C
C
A
T
T
T
C
T
C
T
C
T
G
T
C
T
C
T
A
C
C
T
C
C
T
C
16100
C
C
C
A
G
G
C
T
A
C
C
A
T
T
A
T
C
T
C
T
A
G
T
G
G
G
G
A
C
C
C
A
T
C
T
G
T
A
G
C
T
C
C
C
G
G
T
G
G
G
16150 |
NOT SCANNED
T
C
T
C
C
C
T
G
T
G
T
C
C
T
G
A
T
A
C
C
C
T
C
C
A
A
T
A
A
T
C
T
G
T
T
C
C
C
C
A
C
A
G
C
A
G
C
C
A
G
16200
A
A
C
A
A
T
C
T
T
T
T
C
A
A
G
A
A
A
T
A
A
A
A
C
T
G
G
T
C
A
T
T
C
A
C
C
T
G
C
C
T
G
C
T
T
A
A
A
G
C
16250
C
G
G
T
G
T
A
G
G
A
T
A
C
A
G
G
C
T
A
A
A
C
G
C
T
C
T
C
C
C
A
T
G
G
C
C
T
C
C
A
G
G
G
C
C
C
T
G
C
A
16300
T
T
T
T
C
T
C
A
T
C
C
T
G
T
C
T
A
C
T
T
C
T
T
C
A
T
C
T
A
G
T
T
G
T
T
T
C
C
C
A
C
C
C
A
G
C
G
T
A
A
16350
T
T
G
T
A
A
C
T
G
T
T
T
A
G
T
T
G
A
A
A
G
T
T
G
A
C
G
A
G
G
T
C
T
T
T
T
G
T
C
A
G
C
T
C
T
A
G
A
A
A
16400
T
T
T
C
T
T
T
T
C
T
T
T
T
C
C
T
T
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
16450 |
REPEAT
G
T
G
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
A
G
C
A
C
A
A
T
C
T
C
A
A
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
16500
A
C
C
T
T
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
T
G
C
T
G
A
A
A
T
T
A
C
A
G
G
T
G
16550
T
G
A
G
C
C
A
C
A
G
C
A
C
C
C
A
G
C
C
C
A
T
C
A
G
C
T
C
T
G
G
A
A
A
T
T
T
C
T
T
C
A
T
C
A
C
T
C
T
C
16600 |
REPEAT
T
C
T
T
C
C
A
T
G
A
T
T
G
C
C
C
C
A
T
C
C
C
T
A
T
T
T
T
C
T
C
C
A
T
G
C
C
T
A
C
C
T
C
C
T
G
G
A
A
T
16650
T
T
C
C
A
T
G
A
G
A
C
A
C
A
C
G
T
T
G
G
G
C
C
A
T
C
T
C
A
T
T
C
C
A
T
T
T
T
C
C
G
T
G
T
C
T
C
T
T
A
16700
G
T
T
G
C
T
C
T
G
T
C
G
T
G
T
T
T
T
C
C
A
T
C
T
C
T
T
T
T
A
T
C
T
C
T
A
T
C
C
T
A
A
A
T
T
C
T
G
G
A
16750
T
A
G
T
T
T
C
T
T
C
A
A
G
T
A
T
C
T
T
T
T
T
A
G
T
T
C
A
T
T
A
A
T
T
C
T
T
T
T
T
A
C
A
G
C
T
G
T
G
T
16800
C
T
T
A
T
T
T
G
T
T
T
A
C
T
T
A
C
C
C
A
C
T
G
A
G
A
T
T
T
T
C
A
T
T
T
T
A
TTT TATTTAATTA
16850
ATTAA
T
T
T
A
T
T
T
A
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
T
G
T
T
C
C
C
C
A
G
G
C
T
G
16900 |
REPEAT
|
var(16859):[G:0.26]
|
var(16863):[G:0.01]
|
var(16890):[G:0.01]
G
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
A
C
G
C
C
T
C
C
T
G
T
G
T
T
C
16950 |
var(16935):[A:0.01]
A
A
G
C
A
A
T
T
C
T
C
G
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
G
G
C
T
G
G
G
G
T
T
A
C
A
G
G
G
G
T
G
C
17000 |
var(16979):[T:0.17]
A
C
C
A
C
T
G
T
G
C
C
C
A
G
C
T
C
A
T
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
17050 |
var(17025):[G:0.06]
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
C
C
T
C
C
T
G
A
C
C
T
C
A
A
A
T
G
A
T
C
C
T
C
C
T
17100
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
C
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
T
C
C
C
G
C
A
C
C
C
C
17150
G
C
C
G
GCCCTT TCTTTCTTTT GAGCTGAGCT ATGTATTTAA TGAAACCTTT
17200 |
var(17154):[A:0.02]
TCTTGTGTAT CCAGC
G
GTTC AGTGGTTTCT TGGGGCATGT GATCTCCTTG
17250 |
var(17216):[A:0.34]
AGCCCAGTCC CACAGGCTGT AAT
C
GAAGGT CCTCAGGCCA
C
A
C
T
C
C
C
C
A
G
17300 |
var(17274):[T:0.07]
|
REPEAT
C
C
C
C
G
C
T
G
G
C
T
G
C
C
T
G
C
G
C
A
T
T
C
C
T
T
A
T
C
T
T
G
G
C
C
A
T
G
T
T
C
C
T
T
C
C
A
C
A
G
17350 |
var(17328):[C:0.01]
G
G
C
T
C
T
T
G
T
C
C
A
C
A
C
T
G
T
C
C
C
C
T
C
T
G
C
C
A
G
A
A
T
G
G
T
T
T
G
C
C
C
T
C
CCCCAT
17400
GCCATCTGCT CCTCCTCCTG CCACCTCAGG GAAGGCCTCT CCC
A
CCTCCC
17450 |
var(17444):[C:0.01]
TGACTAGGTC AGGTCCCCTC GTGCCACAGC CT
G
GTGTGTC TCTCCTTTAA
17500 |
var(17483):[A:0.31]
ATACTCCTCA GCTGCAGTTT TACGTTCTGT TCTGGGATGC CCTGGAAAAT
17550
GCTGGGCTCC TGCAGATATG GCCCGCAGCT CCTGCGCTCT CTGCTGCTCT
17600
ATCCCCACCC CTAGCCCAGC TGCTACAGCA GCTTCCCTCG GAGGG
T
T
A
C
C
17650 |
REPEAT
A
T
G
C
A
G
T
A
G
G
T
C
C
T
G
T
T
C
T
A
A
G
C
T
C
T
T
T
C
C
A
C
A
G
A
T
T
A
T
C
T
C
A
T
T
C
C
A
T
C
17700
C
T
C
A
G
G
A
C
A
A
C
C
C
T
A
T
G
A
G
G
T
A
G
G
A
T
C
T
A
T
G
A
T
T
A
T
C
C
C
C
A
T
T
T
T
A
C
A
G
A
17750
T
G
A
G
G
A
A
A
G
T
G
A
G
G
C
C
C
A
G
A
A
G
G
C
T
A
A
G
T
G
A
AGGCATCCT CAGCACATCC
17800
TGAGAGAGGA GTTCAGGGTA GGAATAGCTT CACTAGCAC
A
C
A
G
A
T
G
A
G
A
A
17850 |
REPEAT
A
C
T
G
A
G
G
C
C
C
A
G
A
G
A
G
G
A
C
A
A
G
A
G
T
C
C
T
A
A
T
T
T
G
C
A
C
A
GC CTGGGGCCTG
17900
GGCACTACCC CGAGCTACTT CCTTTTCCCC AGCCCTGGGG CCCGGAGCCA
17950
GCTTTGTCCT TCCCATCTCC GAGGGCATGG ACTGCTGCTG CCCTGATGGG
18000
CCCCTGTCCT GGCCATGGGA CCCCTGTCTT CCACAG
G
T
T
G
T
C
G
G
C
G
G
C
T
T
18050 | Exon 11
V V G G F 332
C
C
C
C
A
G
C
C
A
G
G
C
C
C
A
A
G
T
C
A
C
C
G
T
C
C
A
C
T
G
C
C
T
C
A
A
G
A
T
G
C
C
C
A
A
G
A
T
C
T
18100
P S Q A Q V T V H C L K M P K I 348
C
C
T
G
C
C
A
A
A
A
C
A
A
G
G
G
A
G
T
C
G
T
G
G
T
C
A
A
T
T
C
T
T
C
A
G
T
G
A
T
G
G
T
G
A
A
A
T
T
C
18150
S C Q N K G V V V N S S V M V K F 365
C
T
C
T
T
T
C
C
A
C
G
C
C
C
A
G
A
C
C
A
G
C
A
A
C
A
T
T
C
T
G
T
A
G
C
T
T
A
C
A
C
A
T
T
T
G
A
A
G
A
18200
L F P R P D Q Q H S V A Y T F E E 382
G
GTGAGGCGG GTGCAGGGAG AGGTGGTGGT GGGGGAACCT GACTCACATA
18250
382
TGGGCCGCAG AGGGCAGGGG CCTGGGGGTC TCTGAAGCCT CCAGATCCTT
18300
CTCACCACCT CTGCTGGCAC TGGTTGTCTC TTGCACATGG CTCCTTACAA
18350
TCAAAATCAC ATCATGCAAG TAACGAGGGG GTACACA
C
GT GGTTTCCACA
18400 |
var(18388):[T:0.02]
GCTTAGGTAA TA
T
T
T
T
C
T
C
T
C
T
T
T
T
C
T
T
A
T
T
T
T
T
A
T
T
T
T
T
T
T
T
A
G
A
G
A
C
A
18450 |
var(18413):[G:0.26]
|
REPEAT
|
var(18446):[G:0.01]
G
G
G
T
C
T
C
A
C
T
C
T
G
T
C
A
T
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
C
C
T
C
A
C
A
C
T
C
A
T
A
G
C
T
C
18500
A
C
T
G
C
A
G
C
C
T
C
G
A
A
T
C
C
T
G
G
G
C
T
C
G
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
C
T
C
C
18550
T
G
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
A
C
A
A
A
C
A
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
A
A
A
A
18600 |
var(18580):[T:0.01]
|
var(18597):[T:0.30]
A
A
A
A
A
A
A
T
T
T
C
C
T
T
A
G
A
G
G
C
G
G
G
G
T
C
T
T
G
T
T
A
T
G
T
T
G
T
C
C
A
G
G
C
T
G
T
T
C
T
18650
C
A
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
T
A
A
G
T
T
G
C
T
G
18700
G
G
G
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
T
G
C
C
AAGC AT
A
TG
T
T
C
T
T
T
C
A
T
T
C
T
T
A
T
18750 |
var(18733):[G:0.30]
|
REPEAT
T
T
T
T
A
T
T
T
A
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
C
T
T
A
T
T
T
A
T
T
T
T
T
T
T
G
A
C
A
C
A
G
A
G
T
C
18800
T
C
A
C
T
G
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
G
G
T
G
G
C
A
C
A
A
T
C
T
C
G
G
C
T
C
A
C
T
A
C
18850
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
C
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
A
G
G
T
18900
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
C
G
C
T
A
C
C
A
C
G
C
C
T
G
A
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
18950 |
var(18921):[A:0.06]
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
G
C
T
A
T
G
T
G
G
G
C
C
C
A
G
C
T
G
G
T
C
T
G
A
G
A
C
T
C
C
T
19000
G
G
T
T
T
C
A
A
G
T
G
A
T
C
T
G
C
C
C
G
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
C
A
G
19050 |
var(19050):[A:0.01]
G
C
A
T
G
A
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
C
AATATTCT CCTCCTTAAG CTGAGCAGTG
19100
GACAATGGTG TTTATTACCC GA
G
T
C
C
A
C
A
A
C
C
C
T
T
T
A
T
T
C
A
T
T
A
G
G
G
C
C
A
19150 |
REPEAT
C
A
A
G
G
G
T
T
T
C
C
A
A
A
T
T
C
A
G
A
A
C
T
T
C
T
G
T
G
A
A
T
T
T
G
T
A
A
A
A
G
T
A
G
T
A
T
A
G
T
19200
G
T
A
T
A
G
A
C
A
C
T
G
G
A
T
A
T
A
T
T
G
C
A
G
A
A
C
A
C
C
C
C
A
A
T
A
G
G
G
T
G
T
G
G
G
G
T
G
G
C
19250
A
C
C
C
C
A
C
A
A
T
C
A
A
T
T
C
T
C
C
T
C
A
A
A
T
G
C
C
T
C
A
A
T
T
G
G
C
A
T
T
T
C
T
C
C
T
C
A
T
A
19300
T
G
A
A
G
C
A
A
G
A
T
A
A
A
T
A
C
C
A
T
A
C
A
T
A
G
C
T
T
C
C
T
A
G
A
C
A
A
T
G
G
C
C
A
G
G
T
T
T
T
19350
G
C
C
A
A
C
A
A
A
A
C
T
T
A
A
G
A
A
A
A
A
A
C
T
T
G
T
A
G
T
T
T
T
C
A
G
A
T
C
C
T
G
T
T
T
G
A
T
T
T
19400
T
A
T
A
A
T
T
A
C
A
A
A
T
A
A
G
G
A
A
T
T
A
A
G
A
A
T
C
AG TATTATCTTT AATGCTCCTT
19450
AGAATATCTT CAA
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
T
G
T
C
A
C
C
C
19500 |
REPEAT
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
A
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
T
C
C
19550
T
G
G
T
T
C
A
A
G
C
G
A
T
T
C
G
C
G
T
G
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
T
A
G
C
T
A
G
C
T
G
G
C
A
C
T
19600 |
var(19561):[A:0.03]
A
C
A
G
G
C
G
C
G
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
A
G
T
A
G
A
G
G
C
G
G
G
G
T
T
T
C
19650 |
var(19606):[T:0.05]
A
C
C
A
G
G
T
T
G
G
C
C
A
G
G
C
C
A
G
T
T
T
C
A
A
A
G
T
C
C
T
G
A
C
C
T
C
C
A
G
T
G
A
T
C
C
A
C
C
T
19700 |
var(19700):[C:0.01]
G
C
C
T
C
A
G
C
C
T
C
C
A
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
T
G
T
G
C
T
C
G
19750
G
C
C
AATATTT CTTAATACAT TAAGAACTAA AGACAAGAGC GATACAATCA
19800
CATTGTGGAA AATATAGAAA AATAGAAAGA AGAAAACCAC TGTCACCATA
19850
ACCCCCTTCT CCAGGGGCCT TCGATGTGGT
G
ACTGGGTGC ATTTCCTTCT
19900 |
var(19881):[T:0.01]
GGTGCTTTGT TA
T
T
T
T
T
A
A
A
T
A
A
A
T
T
T
T
T
T
A
T
C
T
T
G
G
A
G
T
A
A
C
T
T
T
A
T
A
T
19950 |
REPEAT
T
T
G
A
A
T
A
A
A
A
G
T
T
G
C
A
A
A
A
T
A
C
A
G
A
G
T
G
T
T
C
C
C
A
T
A
T
A
T
C
C
C
C
C
A
C
C
C
A
C
20000
T
T
C
C
C
G
C
T
T
T
G
T
C
C
A
C
A
T
C
T
T
A
C
A
T
A
A
C
C
A
T
G
C
T
A
C
A
G
T
G
T
C
A
T
A
G
C
G
G
A
20050
G
A
G
A
T
T
A
A
C
A
T
T
G
G
T
G
C
A
T
G
A
C
T
G
T
T
A
A
C
C
A
A
A
C
T
C
T
A
A
A
C
T
T
T
A
T
T
T
G
A
20100
A
T
C
T
C
C
C
C
A
G
T
T
T
T
T
C
C
A
C
T
G
A
T
G
A
T
A
C
C
C
T
T
T
T
T
C
T
T
T
T
C
C
A
A
G
A
T
C
T
G
20150
A
T
C
C
A
G
G
A
T
A
G
C
A
C
A
T
T
G
T
A
T
T
T
A
G
C
C
G
T
T CTTTTTTGTT GTTGTTTGTT
20200
TGTTTGTTTG TCTGTTTGTT TCTGCCCAGG CTGGAGTGCA GCGGTGATCC
20250
TCCCACCTCA GCTTCTCGAC TAGAGATGTG CAC
T
ACCACG TAT
T
T
T
T
T
T
G
20300 |
var(20284):[C:0.01]
|
REPEAT
T
A
G
A
G
A
C
A
G
G
G
T
T
T
T
G
C
C
A
C
A
T
T
G
C
C
C
A
A
G
C
T
G
G
T
C
T
C
A
A
A
T
C
C
C
T
G
G
G
C
20350
T
C
A
G
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
20400 |
var(20354):[A:0.28]
|
var(20374):[T:0.04]
G
A
G
C
C
A
C
T
G
T
G
C
C
C
A
G
TTTA TTTAGCCTTT TAAATATCTC T
T
TAA
T
TTTT
20450 |
var(20442):[G:0.01]
|
var(20446):[C:0.02]
GTATTA
C
TTT CCTTTTCATT TTTCTGTTTT ATTCCTTTTG GCTTTCTCAT
20500 |
var(20457):[T:0.04]
GTGGATGTAG ACATATTATT TTATTTACTT ATTTTTTTGT TGTTAAGAAT
20550
CTGAAACATT GAGCATTTGT TAAAAAAAAG AATTATTC
G
G
C
C
G
G
G
C
A
C
G
G
20600 |
REPEAT
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
A
G
A
G
G
C
T
G
A
G
G
T
G
G
G
C
G
G
A
T
C
20650
A
C
A
T
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
T
A
T
G
A
T
G
A
A
A
C
C
C
C
A
T
C
20700
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
A
C
A
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
G
T
20750
C
C
T
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
A
G
G
A
C
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
C
G
T
20800
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
C
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
20850
A
G
A
G
T
G
A
G
A
C
T
G
T
C
T
C
A
A
A
A
A
C
A
A
A
A
A
A
A
G
A
A
A
A
G
A
A
A
A
G
A
A
A
A
A
GAAAG
20900
TGACTTCTC
A
GGTCCTAACC CCAAAGCCAC AGGTGCTGGG GAACTTTCCT
20950 |
var(20910):[G:0.35]
CGGTTTTCAG AAGAGCAGTA GCTAAGCCTG GTTCCCGTGT CATCCTTGCC
21000
TCTCCAGTCC CTCAGTGGAA AGAATCAGGG GCCCTGAGCT AGGAGGGTTG
21050
CTCTCTGCTT CGGGAAGAGC CCTGGCTCAC AGCAAATTTG GTTTCTCTCC
21100
CCAG
G
A
T
A
T
C
G
T
G
A
C
T
A
C
C
G
T
C
C
A
G
G
C
C
T
C
C
T
A
T
T
C
T
A
A
G
A
A
A
A
A
G
C
T
C
T
21150 | Exon 12 |
var(21126):[C:0.02]
D I V T T V Q A S Y S K K K L 397
T
C
T
T
A
A
G
C
C
T
C
T
T
G
G
A
T
T
T
C
C
A
GTATGTGC TGCAGAGAAG AGAGGGGGCG
21200
F L S L L D F Q 405
GTCAACTCCG CAAACCTCTC CCTGGCCCCT TGGAGTCAGG CACAGGGCGG
21250
GGTGTTGGTG GGGAAATGTG GCCCCTTTCT TCTGGGGCAT ATGGGCTGAC
21300
TGCAGGGAGA TAAGACCCTG CCTAGATAGA ATCTTCGTGG GGAAGAAGGG
21350
GCTCCAGGAA GAATGGAGGG CTGCCAGGAA GAAGGGCCTG GCAGGAGGAG
21400
AGCGCTGCCC GAGCAAAGGC CTGGCCGCCA GAATAGCAAA TCTCAAGGGA
21450
ATAGCAAATC TCAAGAGAGT GCCCCAAAGG GCCTGAGCTA TGAGACA
A
AA
21500 |
var(21498):[G:0.05]
GCACTGGCTG CTATTCTTAG AGTTTCTTTC CCAGGGGATG TTACAGGAGG
21550
GGGCCCAATG GAGGGTCAAA TTATCATC
G
C
TTTTTTATTT CAG
G
A
T
T
A
C
A
21600 |
var(21579):[T:0.01]
|
var(21580):[T:0.21]
| Exon 13
I T 407
C
C
A
A
A
G
A
C
T
G
T
T
T
C
C
A
A
C
T
T
G
A
C
T
G
A
G
GTA GGTAGTCTTG GATAGACTGG
21650
P K T V S N L T E 416
GGGAAATAAG TCCTGTGGGA CCTCCTGCCT TAAAGAAAGC AGGCGGAGGG
21700
CCCTAAAGGA AATCAGGCAA CCAGACCAAA AGAATGTGGA CCAGGTGGTC
21750
CATGCTGTGT CTCTTGTGAC CCTTCTTCTC CCTGCCATGT CTTTTGGGAG
21800
AGCCCTTGTG TTGCAAAAAT GAGAGTGTGG TGGTATGGAT TGGGGTTTAG
21850
GCAGAACAGT ACTGGCCAAG CAGCGCCTCC CTGGACCTCA ATTTTCCCTC
21900
TGTGGAATGG GCTAGCAATC CTGGGCCTCC CCAGGGCGAA GGAAAGACCA
21950
CTCAGGAAGG GCACCGTCTG GGGCAGGAAA ACGGAGTGGG TTGGATGTAT
22000
TTTTTTCACG GATGGGCATG AGGATGAATG CTTGTCCAGG CCGTGCAGCA
22050
TCTGCCTTGT GGGTCACTTC TGTGCTCCAG GGAGGACTCA CCATGGGCAT
22100
TTGATTGGCA G
A
G
C
A
G
C
T
C
C
G
A
G
T
C
C
A
T
C
C
A
G
A
G
C
T
T
C
C
T
G
C
A
G
T
C
A
A
T
G
22150 | Exon 14 |
var(22127):[G:0.44]
S S S E S I Q S F L Q S M 429
A
T
C
A
C
C
G
C
T
G
T
G
G
G
C
A
T
C
C
C
T
G
A
G
G
T
C
A
T
G
T
C
T
C
GTAAGT GTGGGCTGGA
22200 |
var(22162):[A:0.04]
I T A V G I P E V M S 440
GGGGAAACTG GGTGCCGAGG CTGACAGAGC TTCCCATTTC ACCTTGTGGG
22250
CCCTTCCCAG GCAGAGCTTC AGGTGCCCCT CTTCCCAGTC ATTGATACTT
22300
AGCGGTCCTG GCCCCCTTTC CTCTCCCTGC TGGTGG
T
ATT GCACGCCA
A
T
22350 |
var(22337):[C:0.04]
|
var(22349):[G:0.02]
G
A
CTCGGCCA GATGCCCAGA CCCCTGTTCT TGGTTTACCT GCAGAATATT
22400 |
var(22351):[A:0.02]
|
var(22352):[C:0.02]
ATCTTTGCCA CCCCGCGGGA TGGCTCAACC CACTTTCAGG ATGCAGGTCT
22450
CCTAATAGCA ACCTGATAT
A
G
C
A
G
A
A
A
G
A
C
C
C
C
T
G
G
G
C
T
G
G
G
A
G
T
C
T
G
A
G
22500 |
REPEAT
|
var(22480):[G:0.04]
A
C
C
T
A
G
T
T
C
T
A
G
C
C
C
A
G
C
C
C
T
G
A
A
C
C
T
C
A
G
T
T
T
C
C
C
T
T
T
C
T
G
T
G
A
A
A
C
A
A
22550
G
A
A
T
G
T
T
G
A
A
C
T
T
G
A
T
G
A
T
T
C
C
C
A
A
T
T
T
T
C
C
T
T
T
T
G
A
C
C
T
T
G
A
A
A
T
G
G
T
A
22600 |
var(22554):[C:0.04]
|
var(22562):[G:0.03]
G
A
A
T
A
T
T
T
A
T
CCCTTTGAGG TGACTCGGAT GGTAGACTCT CAGACACCAT
22650
AGCACACGTG TGCTGGGGGT ATTTTGGACC AG
G
CTCTGCT GAGAGCTTTC
22700 |
var(22683):[A:0.04]
TGCTCCCTTC CCCACAGAGT ATGTTGAGCT GACTGTGCTT TCCTTTTGAA
22750
CATCTGCTTG TCCACATGGC TTAGGTAGGA GAGGAAGGGC GTGGAAACTG
22800
GAA
T
G
A
T
C
C
T
A
G
T
G
G
G
G
T
G
T
C
T
T
G
G
C
A
T
C
T
C
T
T
G
G
C
C
T
C
A
T
T
T
T
C
C
C
C
A
T
22850 |
REPEAT
C
T
G
A
A
C
C
A
T
G
A
A
G
C
T
A
A
A
A
C
T
A
G
G
G
G
A
T
G
T
G
G
A
T
T
A
A
A
T
G
G
T
T
C
C
T
A
CAA
22900
CTACTTGCAA GGAGACCACT CTGTGTGGTT GCAAAGAACA CTTTGAGAAG
22950
CTGTGTGGGA AAGTTTCCTT CCTAGCAGGG TAGA
T
TCAGC TAACTG
C
AGG
23000 |
var(22985):[C:0.03]
|
var(22997):[T:0.01]
TCATGTGGCC ATTGTGGATG GGTTGGGAGC TCAAGT
T
TGG GGCAGAAGGG
23050 |
var(23037):[G:0.05]
AATTTTTTTT GGCAGCAGAG TGGCAAGCCC TGCCGCCAGC GAAACTCTGC
23100
TCTTCCTCAT CCTCAGAAGC ACTTGCTCAC TCTGCTAAAT CAAAGTGAAA
23150
CGCATGTTTA CAGAATATTG GTCCAAAAGG GTCTCAGCAT CTCCCACTAC
23200
CCAGGGTGGC AGAGCTCGGG CCGGCCTTGC TCCCCAAGAA GGGCTGACTG
23250
GGGCTCTGTC CCCTGCCCCA G
G
G
C
T
C
G
A
G
G
T
A
G
T
G
T
T
T
A
C
A
G
C
C
C
T
C
A
T
G
23300 | Exon 15
R L E V V F T A L M 450
A
A
C
A
G
C
A
A
A
G
G
C
G
T
G
A
G
C
C
T
C
T
T
C
G
A
C
A
T
C
A
T
C
A
A
C
C
C
T
G
A
G
A
T
T
A
T
C
A
C
23350
N S K G V S L F D I I N P E I I T 467
T
C
G
A
G
A
T
GTG AGTACAAAGC CCCCCTCACC AGCCCCTGTT CCTGGGGAGA
23400
R D 469
GAGGCCCAGA CAGGATTCCT GGGGTGACTG GGGGCTGTTG GGGAGACAGA
23450
CAGAGGGGCC TCTACCAGCT TGGCTCCCTC CTGGTGGCCT GGGAGTCAGC
23500
CCAGCTC
A
CC CCTCTCTCCT ACTGCCCCTC CCTTCAG
G
G
C
T
T
C
C
T
G
C
T
G
C
23550 |
var(23508):[G:0.41]
| Exon 16
G F L L 473
T
G
C
A
G
A
T
G
G
A
C
T
T
T
G
G
C
T
T
C
C
C
T
G
A
G
C
A
C
C
T
G
C
T
G
G
T
G
G
A
T
T
T
C
C
T
C
C
A
G
23600
L Q M D F G F P E H L L V D F L Q 490
A
G
C
T
T
G
A
G
C
T
A
G
A
A
G
T
C
T
C
C
A
A
G
G
A
G
G
T
C
G
G
G
A
T
G
G
G
G
C
T
T
G
T
A
G
C
A
G
A
A
23650 |
UTR
S L S 493
G
G
C
A
A
G
C
A
C
C
A
G
G
C
T
C
A
C
A
G
C
T
G
G
A
A
C
C
C
T
G
G
T
G
T
C
T
C
C
T
C
C
A
G
C
G
T
G
G
T
23700 |
var(23696):[A:0.12]
G
G
A
A
G
T
T
G
G
G
T
T
A
G
G
A
G
T
A
C
G
G
A
G
A
T
G
G
A
G
A
T
T
G
G
C
T
C
C
C
A
A
C
T
C
C
T
C
C
C
23750
T
A
T
C
C
T
A
A
A
G
G
C
C
C
A
C
T
G
G
C
A
T
T
A
A
A
G
T
G
C
T
G
T
A
T
C
C
A
A
G
AGCTG
G
GGAG
23800 |
var(23796):[C:0.26]
TCCTTCTTCT GTGGCTGGCG GGTAGAGGG
A
GGGGGAAGGG ATTGTCTCAC
23850 |
var(23830):[C:0.01]
CAGTGCCGTC CACCTCTTTT CAGCCCTTCC AAGGCAGCTG CCCCCAAACC
23900
CTCCAAGCTT CATGATGACT GGAGGAAGAA ATCCAAACTT CTCTCCTTGG
23950
GACTCACGAT CCTCCCTGAT CAGGTCCCTG GATACCTTCC AAATTTATCC
24000
CCTTTAACCC AGCACTCTCC TTGTCTGACC AGCTTCCTGC AGGAGCTGTC
24050
ACACACTCTC TGTCCCTTGG GGTTCCAGTG CTGGACAGAA AGTGAGGGAG
24100
GACCAGGGCT TCAGATCCTG AGGATGGTGG GAGGGTAAGG GGCCCTCAGA
24150
GGTCTGGTTT CTGGTAGAAA TGGAGGAAGA CAGAGCCTTT AAAAAGGCAA
24200
ACGACTTTAT TCCAGAAGAT AAACTGCTCA CGAGCCTGAG CTTATTTCCA
24250
GCTCACC
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
G
G
A
G
T
C
T
C
T
C
T
G
T
G
A
C
C
C
24300 |
REPEAT
A
G
G
C
T
G
G
C
A
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
C
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
T
T
C
C
C
24350
A
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
C
C
T
C
T
C
A
A
G
T
A
T
T
T
A
G
G
A
T
T
A
C
A
G
24400
G
C
A
C
C
C
G
C
C
A
C
C
A
C
A
C
C
T
A
G
C
T
A
G
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
24450
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
C
G
A
A
C
T
C
C
T
G
A
C
C
T
G
C
A
G
T
G
A
T
C
C
24500 |
var(24499):[T:0.02]
A
C
C
T
G
C
C
T
C
A
A
C
C
C
C
C
C
A
A
A
G
T
G
C
T
CA
T
G
T
T
A
A
A
T
A
T
G
G
T
G
A
A
C
C
C
C
A
A
G
24550 |
REPEAT
T
T
T
T
T
C
T
T
C
A
A
A
G
A
A
T
C
A
G
T
A
T
G
T
C
T
G
T
A
T
G
T
T
C
A
G
C
T
C
T
C
T
T
A
T
T
C
T
T
T
24600 |
var(24586):[T:0.02]
G
A
T
T
C
T
C
C
A
T
T
T
T
A
A
A
G
T
T
T
A
A
C
T
T
C
C
T
G
G
T
T
C
T
C
T
T
C
G
C
C
C
C
C
T
T
G
C
T
T
24650
C
T
A
A
T
T
T
C
A
G
T
A
A
A
C
A
A
C
C
T
T
T
T
C
C
A
T
C
A
G
T
T
T
T
A
T
T
C
A
G
T
A
G
T
T
C
A
C
A
C
24700
C
T
G
T
T
C
C
C
C
T
G
G
T
C
A
C
T
T
G
C
T
C
C
A
T
C
C
T
G
A
C
T
C
A
T
C
C
C
A
G
T
C
A
C
C
T
G
C
T
T
24750
T
G
A
C
C
T
G
A
G
T
C
A
C
C
C
C
T
G
G
T
C
A
C
C
T
G
C
T
C
T
G
A
T
G
T
A
A
G
T
C
A
C
C
T
T
T
A
G
T
T
24800
A
C
C
C
G
T
T
C
C
T
A
A
C
T
G
T
C
C
T
T
C
C
T
G
C
C
A
A
A
C
T
A
C
T
C
A
C
C
T
C
G
C
C
A
C
T
C
T
G
G
24850
C
T
C
A
T
A
C
C
T
C
T
G
C
T
C
T
C
T
T
T
A
A
A
A
T
A
G
C
C
A
A
T
C
G
G
A
A
T
T
A
G
C
T
T
A
G
A
C
C
G
24900 |
var(24881):[G:0.01]
T
G
C
G
G
T
C
C
A
A
C
C
T
T
A
G
C
C
A
A
C
A
G
G
G
G
A
A
C
A
A
C
A
T
A
G
C
A
G
C
A
G
G
G
A
T
T
A
C
C
24950
T
G
G
G
T
C
A
G
G
A
A
T
A
A
G
A
A
C
C
C
C
T
T
C
C
C
C
T
C
C
C
T
T
G
T
T
C
A
A
C
T
G
T
G
C
T
C
T
C
A
25000
C
C
A
T
T
G
T
T
C
C
A
T
C
T
A
T
G
A
G
G
A
G
C
A
C
C
C
T
T
T
C
T
A
C
A
G
A
A
A
C
T
A
A
A
A
A
T
T
G
C
25050
T
T
G
C
T
G
A
G
A
A
A
A
T
T
A
A
A
T
T
T
A
T
G
T
T
T
G
A
G
T
G
C
T
A
T
T
T
C
T
T
T
G
C
A
G
C
A
GTG
25100 |
var(25064):[C:0.05]
GAGAACAAGC ATTCCTAACA
C
T
G
G
G
A
T
T
G
C
A
G
G
C
A
T
A
A
G
C
C
A
C
C
G
T
G
C
C
C
25150 |
REPEAT
A
G
C
T
TCCAGC TCACCTTCTT ATGCTCAAAT TGTGTCTTCT CCTTCCCACC
25200
CTCAAGCTAC AATACAA
A
AA GTTTCTTCCA ACCCTCTCAG TCTTGGAAGG
25250 |
var(25218):[G:0.01]
TAGCAGGCTC TATTTTCTCT GGGTGTGTAA AGAAAATGCC TCTCCCACAT
25300
TAGCCAATTG AGACGGGAGG AAGCGCAGCA AGATGCTGGC TA
G
T
G
C
A
A
G
G
25350 |
REPEAT
T
C
C
C
T
G
G
G
G
T
A
G
A
A
A
G
A
A
T
C
A
T
G
A
T
G
G
A
T
T
C
A
A
G
A
A
C
A
G
T
C
A
A
G
A
G
G
G
C
T
25400
G
G
T
G
T
G
G
C
C
C
T
G
A
A
A
G
C
A
A
A
G
A
A
C
T
A
G
G
G
G
C
G
A
G
A
G
A
T
G
A
G
G
C
C
CAACCA
25450 |
var(25425):[C:0.14]
GCAGGCAGGG TCACATAACA AAGGTGATAA AAGGGCTTGG CCTTTATTTC
25500
AGCAGCCAGG AGAGACAGCC AGGAGGCTGG GGCTGTGGGG AGCTCAGAAG
25550
TAAGATGCCC CTTCCAGTCT GGGAATATGT GAGGGGAGGG CACCATCTTC
25600
TGAGCCAGGT TT