TTRAP 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
C
A
G
A
T
G
G
G
A
A
A
T
T
G
A
A
A
G
T
A
C
C
T
C
T
G
A
T
T
G
G
T
TGCAAAAA GCAAAATTAC
50 |
REPEAT
GCTAAGAAGT AAGTTATCCC TTAAAAAAAA
A
TTATT
C
T
T
T
C
T
G
C
A
A
C
C
A
A
100 |
var(81):[:0.67]
|
REPEAT
T
C
A
G
A
T
C
T
T
C
C
C
A
T
A
G
G
A
G
T
G
T
A
A
C
T
A
T
G
T
A
A
C
T
T
C
A
C
C
A
T
C
T
G
A
T
T
G
C
A
150
C
G
C
C
A
C
G
T
C
T
T
C
G
T
T
T
G
C
A
T
A
T
A
A
G
G
G
C
A
A
C
T
T
T
G
T
A
A
C
T
T
C
A
C
T
T
T
A
G
C
200
C
T
T
T
C
A
T
T
G
G
T
T
G
C
T
T
T
T
C
A
C
A
G
C
C
A
A
T
T
G
T
G
G
G
T
C
A
C
C
A
C
T
T
C
A
T
T
T
A
C
250
A
T
G
A
G
A
T
G
A
G
T
A
C
C
A
A
G
T
G
G
C
C
A
A
T
A
G
G
A
G
A
C
T
T
C
A
A
T
G
G
G
G
T
A
T
T
A
G
G
G
300
C
C
C
C
T
G
A
G
C
T
G
C
T
G
C
T
C
C
A
C
A
C
C
C
C
A
A
A
C
A
C
A
G
G
A
G
T
G
T
C
C
T
T
T
C
A
T
T
T
T
350
C
A
G
T
A
A
A
T
C
C
C
T
G
C
T
T
T
T
G
G
C
G
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
400 |
REPEAT
A
G
C
A
C
T
T
C
G
G
G
A
G
G
C
C
A
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
C
A
G
T
T
T
T
G
450 |
var(449):[:0.96]
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
A
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
A
T
A
A
A
A
A
T
A
A
A
G
A
500
A
T
T
A
G
C
C
A
G
G
C
T
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
A
A
T
C
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
A
A
550 |
var(540):[T:0.01]
G
G
C
T
G
A
G
G
C
A
T
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
600 |
var(586):[A:0.01]
C
C
G
A
G
A
T
C
G
T
G
T
C
A
C
T
G
C
A
C
T
C
C
C
G
C
A
T
G
G
G
C
A
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
A
T
650 |
var(650):[G:0.03]
C
T
C
A
A
A
A
C
A
A
C
A
A
C
A
A
C
A
A
C
A
A
A
CACCTTC AA
G
G
T
C
T
G
G
C
G
T
G
G
C
G
G
C
T
C
700 |
var(658):[:0.01]
|
REPEAT
|
var(695):[T:0.18]
A
C
A
C
C
A
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
G
G
A
G
G
C
A
G
G
C
G
T
T
T
C
A
C
C
T
G
A
750
G
G
T
C
G
G
G
A
G
T
T
C
G
A
G
A
G
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
800
C
T
A
A
A
A
G
T
A
C
A
A
T
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
850
C
C
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
G
T
T
T
G
A
A
C
C
A
G
G
G
A
G
G
T
G
900
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
950 |
var(922):[T:0.02]
A
G
G
G
C
G
A
A
A
C
C
T
C
A
T
C
C
T
A
A
A
A
A
A
A
C
A
A
A
A
A
C
A
A
A
C
A
A
A
C ACCTTCGGGC
1000
TTTGTGAGTG CTGGTCTCAG AAAAGCACTC AGTCTTCCTC CAAGGGCTAA
1050
CTTACTTCTT CAGGAGTTGG GTGCCTTTGA GAAATTTCCC AAACCACTAC
1100
AGAGGAACAA CTTCTCCCTT CGTTCACCAC TCTACCAAGC ACTTGGCTTT
1150
TGTACCTTAT TGCAATTATT TATCTTCTAA TCTTCTAGAG CCTAGAGAAT
1200
TAGACTGTAA TGTGCCTTAA ATGCAGAGGT TTCTCTTACT CTTCTCTGGA
1250
GCAATGCAGA CGTTTGTTGG TTGAAGGATC AAACTCCAAA GTCCCTCCCA
1300
GCCTTGGAAC TGTCTCCA
C
G AGTCATAACC ATACTTATCT ATGTTTAGAT
1350 |
var(1319):[T:0.15]
AGAGAACTTA CGCGTTCGAC CCAGCATATT TAGGGGCTCC ATTAAAGTAA
1400
TAATCATTAT TACTAAGGTG AATTTACAGG CGTACTAGAA CACAACCTAA
1450
CAAGA
G
ATAA TTATTCAAAG CTCACAACGG CACCAAGCAC GGTGCTTTCT
1500 |
var(1456):[A:0.19]
TTTCCTTCAT TAGAAGCCAC GGCTTCTCCC C
T
ACCTTTCC CATACCTTTC
1550 |
var(1532):[C:0.01]
CCAAAACTCT CTCAAAATTG CGAGCCTTGG TCATGGCCTT TATCACCTCC
1600
CGCAGAGACT GAGTCATGCT GGTCATCGTG GACGGTTTTC CAGCCTTTGG
1650
GCTTTGCGCA AGAACGAACT TCGGAAGAGC TGGAAAGTCC AGAAGTTAGT
1700
GAAAGAAGGA
G
G
A
CACAAAG GGCGAAGAGC CCGCACCCTT CTCCGCCCCT
1750 |
var(1711):[:0.04]
AGGAGCGCAA GAGGCCGGGA GTCAGGCGAG CTGGCAGCCC CGGT
G
GTCCG
1800 |
var(1795):[A:0.10]
CGATTTGCTC ACTGACTTTC
C
TCGCACCC
T
T
G
T
G
A
C
G
A
A
G
C
G
C
G
C
A
T
G
C
G
1850 |
var(1821):[T:0.02]
|
var(1830):[:0.04]
C
G
C
T
T
C
G
C
A
C
C
C
ACCGCCCC GGCGGCTCCC TTGCGGCGCA GCTGCACCAG
1900
TTTTCCGAGA GC
G
G
AGCGCA TTTCCCCGCC GGGCGGTTGA TGCGGGAGCG
1950 |
var(1913):[:0.13]
CCATGACACA GGCGCCTGCG CAGAGCCGCG CGTTGGCCTC CTGTTCCGCT
2000
TAAA
G
G
G
G
C
G
G
T
G
C
A
G
A
G
G
C
G
G
C
A
G
G
A
A
G
A
T
G
G
A
G
T
T
G
G
G
G
A
G
T
T
G
C
C
T
G
2050 | Exon 1 |
UTR
M E L G S C L 7
G
A
G
G
G
C
G
G
G
A
G
G
G
A
G
G
C
G
G
C
G
G
A
G
G
A
A
G
A
G
G
G
C
G
A
G
C
C
T
G
A
G
G
T
G
A
A
A
A
A
2100
E G G R E A A E E E G E P E V K K 24
G
C
G
G
C
G
A
C
T
T
C
T
G
T
G
T
G
T
G
G
A
G
T
T
T
G
C
C
T
C
G
G
T
C
G
C
A
A
G
C
T
G
C
G
A
T
G
C
C
G
2150
R R L L C V E F A S V A S C D A 40
C
A
G
T
G
G
C
T
C
A
G
T
G
C
T
T
C
C
T
G
G
C
C
G
A
G
A
A
C
G
A
C
T
G
G
G
A
G
A
T
G
G
A
A
GTACGC
2200
A V A Q C F L A E N D W E M E 55
TTTCGCTGTC CTCGCTTCCG GCTCCATTAC CTAGGTCGGT GGAGCGCACA
2250
AACCTCATCC CTTGTGCCTT TGTTTTTCAG
A
G
G
G
C
T
C
T
G
A
A
C
T
C
C
T
A
C
T
T
2300 | Exon 2
R A L N S Y F 62
C
G
A
G
C
C
T
C
C
G
G
T
G
G
A
G
G
A
G
A
G
C
G
C
C
T
T
G
G
A
A
C
G
C
C
G
A
C
C
T
G
A
A
A
C
C
A
T
C
T
2350
E P P V E E S A L E R R P E T I 78
C
T
G
A
G
C
C
C
A
A
G
A
C
C
T
A
GTAA GTGATGAGGG
G
AGCGGGAGC CAGTCCGCAC
2400 |
var(2381):[A:0.08]
S E P K T Y 84
GGAGGCAGTT TGATACCAGG TAGCCCTGCG CGTCCTGGGA CCTGCCGTGG
2450
AGCTGGGCGG ACGATGCTGA GGCAGATCTC CAAGCTGCGT AGCCAGAGGA
2500
GCAGGGCTTG CGTTGCTGCT GCTGCGCGGA GTTGCGCCCC AGCAGCGGAT
2550
CTAACACTGC ACCAGACTGT CGCTTCGAAC GTGATTTGGG GTCCAGGGAG
2600
GAAAAGATGG AAATGTAATG TTTAACTCAA ATGAAAGGAA ATAAGTAAGC
2650
GAGAGGTTTG AAACAAATGA ACGAAGGCTA AACCTTCTAT CGAAAAATGG
2700
CAACTTGGAA GTCTCCTTGC TTCCTGTATT GTTTATTTAT TCTAGGCCCT
2750
AGGCTGACCG GCCAGA
A
TAA CAGGTTTGTT GTTGTTGTTA TTTTTTTTT
T
2800 |
var(2767):[G:0.08]
|
var(2800):[:0.79]
AATGCACACC TACTCCTGTT ATTTCAGTGC CCCTCTCCAG TTCCTGCACT
2850
TAAAAAGTGT AGCTGCCTTA CAAGGCCCTC TACTATTTGG CTCCATAACT
2900
TAGAACCTGC CTTTCCAG
G
T
T
C
C
A
G
G
C
C
T
A
T
C
A
A
A
C
T
T
T
T
A
C
T
T
T
T
T
T
C
C
2950 |
REPEAT
|
var(2927):[G:0.13]
A
A
C
G
G
G
T
C
A
T
T
T
T
C
T
C
C
T
G
T
C
T
T
T
G
A
A
A
C
T
T
C
G
T
A
A
A
G
A
T
C
T
T
T
A
T
T
A
C
C
3000
T
G
T
G
C
C
T
G
G
A
A
T
T
T
T
T
T
T
C
T
T
T
T
C
C
C
T
T
C
C
T
T
G
C
T
A
A
T
A
T
T
T
G
T
C
T
T
A
A
A
3050 |
var(3004):[T:0.04]
G
C
C
C
C
A
A
G
C
T
G
A
G
A
C
A
T
G
A
T
T
T
A
T
C
T
C
T
A
G
G
A
A
G
C
T
T
T
T
C
C
T
G
A
T
G
T
C
C
T
3100 |
var(3061):[T:0.13]
|
var(3062):[T:0.13]
A
A
G
T
C
T
G
G
G
T
A
A
G
A
G
T
C
C
C
C
T
T
T
T
A
G
G
T
A
C
T
C
T
T
A
T
A
G
C
A
T
C
C
T
G
C
A
T
G
A
3150 |
var(3114):[C:0.21]
C
C
C
C
T
G
T
T
A
C
A
A
T
A
C
C
T
T
A
G
T
C
C
G
T
A
T
T
A
T
A
A
T
T
G
C
T
G
T
T
C
A
T
T
A
T
T
T
T
A
3200
T
G
T
C
T
C
C
T
A
C
T
A
G
A
C
T
G
C
A
C
A
T
C
T
A
G
T
A
A
G
G
A
G
T
A
T
C
T
G
T
T
T
T
G
T
A
C
A
T
T
3250
G
T
T
A
A
T
T
T
C
C
C
A
A
A
G
T
C
T
G
A
C
A
C
A
A
C
A
T
T
T
G
A
C
A
C
A
T
A
A
T
A
A
G
C
T
C
C
C
A
A
3300
T
A
A
A
T
A
T
T
T
A
C
T
G
A
A
T
G
T
A
T
A
A
A
ATTCTCC CAGCTATATG TACAACCTGT
3350
AAAATTGACT GTTCATAGTG GAGACTTTAT TTTCCCTTTG GTCTTTTCAG
3400
CTACACTGGC TTACAGA
T
GT GATAAGATAT TTTCTTTAGG TTCCTTTCTC
3450 |
var(3418):[C:0.03]
TGTCTTGCCT CTTGTTGGGG AATTGTTTAC TCACCCACAG TGATTTGTCT
3500
CTGGCTCCCG TTTTACTAAC CAGAGCAAGT TGGACTAGGA GGTGTTTGCC
3550
TAGCTCAAAC TGGCCAGTCA GATCCTCTCC TTGGTTTCAG AATTAGGACC
3600
AAGAGAGTCA AGTCTGAGTC TTCCTATGGA GCTGGAACTG TAACATGTTA
3650
ACTTAGCACC TGTGAGGATT CATACATATC TTTTTTTGTG TACAGAGAAG
3700
CTGAGAACAG AGGTCTGCAG AGAGACAATG AAGCAGAGGG AAGTTGAAGT
3750
GTAGGATTGA GAGAAAGCCC TTAACTGCCC
T
TCCTTAAAC ATGGCTGTAT
3800 |
var(3781):[G:0.15]
TTCTGTACCA GGCTCTGTGA CATGTTTGTT TCCTTATAAA TTCTCCTGTT
3850
TTGGTCAAAC CAACCTGAGT TAATGTCTGT TGGTTGCAAC AGACTATATT
3900
GTAACCAATA AATAGTAACA AAATAAGTGG ATTTCCTGTA ATAGGCCCTC
3950
AGAAAAGATG CGGATCAAGC TGATCAATGG TGTCATG
G
CT ATTAGGATTC
4000 |
var(3988):[A:0.01]
TCTTACCCCG GAATGGTAAA TTGGCAAAAA CAAGCAAAGG TGTTGATTAG
4050
GCTGTGGTCT CTTGTCTCTC AGAACTCAGG TCAAGTATGA ATGAGAGTGA
4100
GGTTTTAAAG TTTAGTTTGC TCAAGAGAGA AAAATGGGGA AGGGGCAAAC
4150
TTCAGCGTGT TTCTAAGGCC TGTGACCTGA TTAGATTTTT
G
ATGTTGGCT
4200 |
var(4191):[C:0.01]
TTAGCAAAAA TGAAAGGGAA AAAAAAATTG ATTGGAAGAT TTTATGACCA
4250
GAAAAACTCA ACCCTGCTGA GCAAGGGCAT TGGCTGTCTT AAATGAATGG
4300
CGCAGGAATC TCAATTCTGG AGTGAATTCC TGGGATATCA ACAAAAATTG
4350
AAATTGAACA CTAAAGTGAT TTAGTCCCCT ACATTAGAAT CT
T
ATCTTCA
4400 |
var(4393):[:0.97]
GTGTCTCTGA TGA
G
AGACAA GGGAAATCCT CTTAAA
A
CAG CTATG
C
T
G
A
A
4450 |
var(4414):[C:0.03]
|
var(4437):[G:0.07]
|
REPEAT
T
C
T
T
A
G
C
T
G
C
A
T
A
T
T
G
G
A
A
T
T
A
T
C
T
G
G
G
G
A
A
T
T
T
A
A
A
A
A
A
A
A
A
A
C
C
A
G
A
G
4500
A
T
T
C
T
A
A
T
T
T
C
A
T
T
A
G
T
C
T
T
G
A
G
T
G
G
G
G
C
C
CATTATTCCT TATTGGCTTT
4550
TTTTTTTT
T
T
T
T
T
A
A
T
T
A
G
C
T
G
T
G
C
A
G
G
T
A
A
T
T
C
T
A
A
T
G
C
A
G
A
G
C
C
A
G
C
A
4600 |
REPEAT
|
var(4565):[:0.52]
T
T
G
A
A
A
G
C
C
C GTGTCCCAGA GCCT
T
G
T
T
A
T
T
T
A
G
A
G
T
G
T
G
G
A
C
T
C
T
G
G
A
C
4650 |
REPEAT
C
A
G
C
A
G
C
G
T
G
C
C
A
C
T
G
C
T
A
C
T
C
G
G
G
A
A
T
T
T
G
T
T
A
G
A
C
A
T
G
C
A
G
A
A
T
C
T
T
A
4700 |
var(4658):[A:0.01]
G
G
T
C
T
C
A
C
C
C
A
G
A
C
C
T
A
C
T
G
A
A
T
C
A
G
A
A
T
C
T
G
T
A
T
T
T
T
G
A
C
A
A
G
A
T
C
T
C
C
4750
A
G
G
T
G
A
T
T
T
A
AAATTGAGGA GCACTGGCCT AACACATAAA ACCTAAGACA
4800
CCAGATATAC TGACAAAAGC ACTTCCTCCT CTGCTTAGGA ATGAAGTCAA
4850
CAAATCATGC
C
CCTAAAGTT TGCCAGTCCC TTTCTGTTCC CTTAGTATTT
4900 |
var(4861):[A:0.02]
CTGTACAGCA ACGTTTTAGA GTTTATTTCC CTTTTCATTT
T
TCCAAAAGG
4950 |
var(4941):[G:0.07]
AAATTTTTAA TACAGTTGCC TGGTTTTTCT TG
C
TGCATTA AATATTAAAT
5000 |
var(4983):[T:0.07]
ATTGTGGGTG TTGCATAAAT TGC
A
GAGATA TT
T
G
T
A
T
T
A
G
G
T
T
C
T
T
G
T
G
T
5050 |
var(5024):[G:0.07]
|
REPEAT
T
G
C
T
A
T
A
A
A
T
A
C
C
T
G
A
G
A
C
T
G
G
G
T
A
A
T
T
T
A
T
A
A
A
G
A
A
A
A
G
A
G
A
T
T
T
A
A
T
T
5100
G
G
C
T
A
A
C
A
G
T
T
C
T
G
C
A
G
G
C
T
C
T
A
C
T
G
G
A
A
G
C
A
T
G
G
C
C
C
C
A
G
C
C
T
C
T
G
C
T
G
5150
G
G
C
C
T
C
A
G
G
A
A
G
A
T
T
T
C
A
A
T
C
A
T
G
G
C
A
G
A
A
G
G
G
A
A
A
G
G
G
G
A
G
C
C
C
A
G
G
T
A
5200
T
C
A
C
A
T
G
G
A
G
A
G
C
G
C
A
G
G
A
G
C
A
A
G
G
G
G
G
T
G
G
G
G
T
G
G
T
G
C
C
A
C
A
T
A
C
T
T
T
T
5250
A
A
A
C
A
A
C
C
A
G
A
T
C
T
T
G
C
A
A
G
A
A
G
A
A
C
T
C
A
G
T
A
T
C
G
T
G
A
A
G
A
T
A
G
C
A
C
C
A
A
5300
G
A
C
A
T
T
A
A
T
G
A
G
G
G
A
T
C
T
G
C
C
T
C
C
A
T
G
A
C
C
C
A
A
A
C
A
C
C
T
C
C
C
A
C
T
G
G
A
C
C
5350
C
C
A
C
T
A
C
C
A
A
C
A
T
T
A
C
G
G
A
T
T
A
T
A
T
C
T
C
A
A
C
A
T
G
A
G
A
T
T
T
G
G
A
G
G
G
G
A
C
A
5400
A
A
C
A
T
C
C
A
A
A
C
T
A
T
A
T
C
A
AT ATGGAATTGG ATTACAATGA AACAGAGGAG
5450
GAA
A
G
G
A
T
G
G
C
A
T
A
G
T
G
A
A
T
A
A
G
A
G
C
A
T
G
G
A
C
T
C
T
G
G
A
G
C
C
A
A
A
A
T
G
C
A
A
5500 |
REPEAT
A
G
G
T
T
A
T
A
A
G
T
C
C
A
C
C
T
G
T
G
C
T
A
T
T
T
A
G
T
A
A
C
T
G
T
G
T
A
A
C
T
T
C
T
C
T
C
T
G
C
5550
C
T
C
A
A
T
T
T
C
T
T
T
G
T
G
C
A
G
T
G
G
G
G
A
T
A
G
T
A
A
T
A
T
G
G
T
T
C
T
G
A
G
T
C
T
A
C
C
T
G
5600 |
var(5573):[:0.14]
T
G
C
T
A
T
T
T
A
G
T
A
A
C
T
G
T
G
T
A
A
C
C
T
C
T
C
T
C
T
G
C
C
T
C
A
G
T
T
T
C
T
T
T
A
T
C
T
G
T
5650
G
C
A
A
C
C
C
C
T
T
C
C
T
C
A
T
G
G
G
G
T
T
G
T
T
G
T
A
A
G
G
A
T
T
A
A
G
T
G
A
G
C
T
A
A
T
A
G
A
T
5700
G
T
A
A
A
A
C
A
C
T
T
G
G
A
A
T
T
G
T
G
C
C
T
G
G
C
A
T
A
T
A
G
A
G
C
T
C
A
G
T
A
A
G
T
A
T
A
A
G
C
5750
T
A
T
G
A
T
T
AAT GACACCATCA TGCTCTCCCC ATACATCACC CATGACAGTC
5800
CACCTGTTGA GGAAAGTAGG GGTTGTGTTT ACAGTTTTAT GAGGTAGATT
5850
GAGTTATAGT TGGATATCTT TAAACTTGGA AAAAAAGGTG TGTGTGCCGG
5900
ATAGGTAAGG GGCCTGATGT GATGAGCAAA CACCTTTGTC TATGATAGTA
5950
TATATATTTT TAAATTCAGC TATGAAACAG AAGATTTGAC AGAAATAAAG
6000
AGCTAATAAT TTCTCCTTTC TGGTTTTAAT GCTTTTCATA AAAAGGAAAT
6050
AACATCTTTG ATCAGGCATG GAATCACTTG GCTTTTTCTC TCTGGTGGTA
6100
AGA
T
G
A
A
G
G
G
G
G
C
C
A
G
C
C
C
C
T
C
C
A
C
A
C
C
T
G
T
G
G
G
T
A
T
T
T
C
T
C
T
T
C
A
G
G
T
G
6150 |
REPEAT
G
G
A
C
G
A
G
A
G
A
C
T
G
A
G
A
A
A
A
T
A
A
A
T
A
A
G
A
C
G
G
A
G
A
G
A
C
A
A
A
G
T
A
T
A
G
A
G
G
A
6200
A
G
A
A
A
A
G
T
G
G
G
C
C
C
A
G
G
G
G
A
C
C
G
G
C
G
C
T
T
A
G
C
A
T
A
C
G
G
A
G
G
A
T
C
T
G
C
A
T
G
6250 |
var(6204):[G:0.14]
G
G
C
A
C
T
G
G
T
C
T
C
T
G
A
G
T
T
C
C
C
T
C
A
G
T
A
T
T
T
A
T
T
G
A
T
C
A
C
T
A
T
C
T
C
T
C
C
C
A
6300 |
var(6294):[:0.86]
|
var(6297):[A:0.14]
T
C
T
C
G
G
T
G
A
G
G
G
G
G
A
T
G
C
G
A
C
A
G
G
A
C
T
A
G
A
G
G
G
T
A
A
T
G
G
T
G
G
A
G
T
C
A
G
C
A
6350
G
G
A
A
A
A
C
G
T
G
A
G
C
A
A
A
G
G
A
C
T
C
T
G
T
G
T
C
A
T
A
A
A
T
A
A
G
T
T
T
A
A
G
G
A
A
A
G
G
T
6400 |
var(6362):[A:0.05]
G
C
T
A
T
G
T
C
T
G
G
A
T
A
T
G
C
A
C
G
T
A
G
G
C
C
A
G
G
T
T
T
A
T
G
T
T
T
G
A
C
T
T
T
A
C
A
C
A
A
6450 |
var(6443):[:0.03]
A
C
A
T
C
T
C
A
G
T
G
C
A
A
T
A
A
A
G
A
G
T
A
G
T
A
T
T
G
C
C
G
C
C
A
G
C
A
T
G
T
C
T
C
A
C
C
T
C
C
6500
A
G
C
T
A
T
A
A
G
G
C
G
G
T
T
T
T
C
T
C
C
C
A
T
C
C
A
A
G
T
A
A
A
T
A
G
A
A
T
G
T
A
C
G
A
T
C
G
G
G
6550 |
var(6542):[G:0.14]
T
T
T
T
A
T
A
C
C
G
A
G
A
C
A
T
T
C
C
A
T
T
C
C
C
A
G
G
G
A
C
G
A
G
C
A
G
G
A
G
A
C
A
G
A
T
G
C
C
T
6600
T
C
C
T
C
T
T
T
T
C
T
C
A
A
C
T
G
C
A
A
A
G
A
G
G
C
C
T
T
C
T
T
T
C
A
C
T
A
A
T
C
C
T
C
C
T
C
A
A
C
6650
A
C
A
G
A
C
C
C
T
T
T
T
T
G
G
G
T
G
T
C
G
G
G
C
T
G
G
G
G
G
A
C
G
G
T
C
A
G
A
T
C
T
T
T
C
T
C
T
T
C
6700 |
var(6666):[A:0.44]
T
C
A
T
G
A
G
G
C
C
A
T
T
A
T
C
T
C
A
G
G
C
T
G
T
C
T
C
A
G
T
G
G
G
G
G
G
A
A
T
C
C
T
T
G
G
A
C
A
A
6750
T
A
C
C
C
A
G
G
C
T
T
T
C
T
T
G
G
G
C
A
G
A
G
G
T
C
C
A
T
G
T
G
G
C
C
T
T
C
C
G
C
A
G
T
G
C
A
T
T
G
6800
T
G
T
C
C
C
T
G
G
G
T
A
C
T
C
G
A
G
A
C
T
G
G
A
G
A
A
T
G
G
C
G
A
T
G
A
C
T
T
T
T
A
C
C
A
A
G
C
A
T
6850 |
var(6805):[T:0.01]
A
C
T
G
C
T
T
G
C
A
A
A
C
A
C
A
A
T
T
T
T
A
A
C
A
A
A
G
C
A
C
A
T
C
C
T
G
C
A
C
A
G
C
C
C
T
A
A
A
T
6900 |
var(6895):[T:0.27]
C
C
A
T
T
A
A
A
C
C
T
T
G
A
G
T
C
A
A
T
A
C
A
G
C
A
C
A
T
G
T
T
T
C
T
G
C
G
A
G
C
A
C
A
G
G
G
T
T
G
6950
A
G
G
C
T
A
G
A
G
T
T
A
C
A
G
A
T
T
A
A
C
A
G
C
A
C
C
T
C
A
A
G
G
C
A
G
A
A
G
A
A
T
T
T
T
T
C
T
T
A
7000
G
T
A
C
A
G
A
T
C
A
A
A
A
T
G
G
A
G
T
T
T
C
T
T
A
T
G
T
C
T
T
C
C
T
C
T
T
T
C
T
A
C
A
T
A
G
A
C
A
C
7050
A
G
T
A
A
C
A
G
T
C
T
G
A
T
C
T
C
T
C
T
T
T
C
T
T
T
C
C
C
C
C
A
C
A
GTAAGA CGTTGAAAAA
7100 |
var(7074):[:0.18]
AAGTCTAATA GCTCATTGTT GAATAAGAGA ACTTTTGG
G
T AGGATGAAAT
7150 |
var(7139):[A:0.02]
TCACAAAAGA AAGTTTTGCA CTTTTTTT
T
T
ATGCTCTTGA AGGTTATTTT
7200 |
var(7179):[:0.14]
|
var(7180):[A:0.02]
TATGTAAAAG GGAGACAATT CAAAATATTT TATGCTACAA AATTGA
C
A
T
T
7250 |
REPEAT
A
A
G
T
T
C
A
T
C
T
A
G
C
A
C
C
C
A
G
A
T
C
A
T
G
G
C
C
T
T
T
A
A
A
T
A
C
A
A
T
T
C
T
T
C
A
C
T
G
A
7300 |
var(7270):[G:0.05]
A
A
G
G
A
A
C
A
A
G
G
G
C
T
T
T
T
C
A
G
A
A
A
T
G
A
C
T
G
A
T
T
T
C
A
TAGAA TGAAAGGGGC
7350 |
var(7314):[C:0.02]
TTAATGTAAA AATTAAAAAA GAAGTTAAAA
A
G
A
A
A
T
G
A
C
T
G
A
T
T
C
C
A
G
A
G
7400 |
REPEAT
C
A
G
G
G
G
C
A
A
A
A
A
A
A
G
T
A
C
A
A
G
A
T
G
A
G
C
C
A
A
T
G
G
T
A
T
C
T
G
T
G
G
T
G
T
T
A
G
A
A
7450 |
var(7445):[C:0.07]
A
G
T
A
A
G
G
A
G
G
T
G
C
C
C
A
G
A
A
A
A
T
G
T
T
G
G
G
G
A
C
A
T
G
C
C
A
G
A
A
G
G
G
C
A
C
A
A
G
A
7500
C
C
T
A
G
C
T
T
A
A
A
A
G
C
T
G
C
C
T
A
C
C
C
T
T
T
C
C
C
C
G
T
G
A
A
A
T
C
T
G
G
T
A
T
A
A
C
C
C
A
7550 |
var(7531):[A:0.14]
A
G
C
A
A
C
A
G
G
A
T
G
C
T
T
G
G
T
A
G
G
A
A
T
A
G
A
T
T
A
C
A
A
T
C
C
A
T
A
A
A
A
A
A
A
G
A
A
C
C
7600
C
A
T
A
C
T
G
A
T
A
T
A
A
A
T
A
C
C
G
T
T
G
T
C
C
A
A
G
A
G
A
G
A
A
G
G
G
A
A
C
A
T
T
T
T
T
C
C
T
T
7650 |
var(7619):[A:0.13]
A
C
A
G
T
A
G
A
A
C
T
C
C
A
T
C
T
A
T
T
A
A
A
T
G
T
G
G
A
A
G
A
C
A
T
G
A
G
G
A
A
T
T
A
G
A
A
A
A
A
7700
A
A
T
C
T
T
C
A
T
T
T
G
G
G
A
A
C
T
G
C
C
G
T
A
T
T
G
A
T
A
A
T
T
A
T
T
T
C
A
G
G
T
A
G
A
T
A
T
C
A
7750
A
C
A
G
A
T
A
C
T
A
A
A
A
C
T
A
G
T
A
G
G
A
A
A
G
T
T
C
A
G
T
G
A
A
C
A
A
C
A
G
C
A
T
A
T
T
T
A
C
A
7800 |
var(7793):[C:0.01]
T
A
A
T
C
A
C
A
A
A
G
T
A
C
T
T
T
C
C
C
A
C
A
A
A
A
T
A
C
T
T
A
C
T
A
T
G
A
T
G
G
G
G
A
A
A
A
T
T
A
7850
T
A
A
C
T
T
C
G
T
A
C
T
A
G
A
G
A
A
A
T
C
T
G
G
T
T
A
A
C
A
A
C
A
C
T
T
T
A
A
C
C
A
A
G
T
G
A
T
C
A
7900
A
A
G
C
T
A
A
C
A
T
C
A
C
C
A
G
G
A
A
T
G
G
G
A
A
A
G
C
T
C
C
A
T
A
T
C
A
G
A
T
G
C
T
T
G
A
T
A
T
G
7950
G
T
G
C
A
T
T
G
C
G
G
A
G
G
A
C
A
T
A
C
T
A
T
C
A
C
T
T
C
T
G
T
G
A
C
A
T
T
C
C
T
G
C
C
A
A
A
A
A
A
8000
T
G
C
A
T
A
A
T
C
T
G
A
A
T
C
A
A
A
T
A
A
T
A
G
G
A
A
A
A
C
A
T
A
A
G
C
C
C
A
A
T
C
T
G
A
A
G
G
A
C
8050
A
T
T
C
T
G
T
A
A
G
A
T
A
A
A
T
G
G
C
C
T
G
T
A
C
T
C
T
T
C
A
A
A
A
A
T
T
G
A
C
G
T
C
A
G
A
G
T
C
A
8100 |
var(8087):[:0.82]
T
G
A
G
A
G
A
C
A
A
A
G
A
C
T
G
A
A
A
A
A
C
T
T
T
T
C
T
G
G
A
T
T
G
A
A
G
A
A
A
A
T
T
A
A
A
A
G
A
G
8150
A
C
A
T
G
C
C
A
T
C
T
A
A
A
T
A
T
A
A
C
A
T
G
T
G
A
T
C
C
T
A
G
A
T
T
A
G
GAC
A
CTAGTAGCA
8200 |
var(8191):[G:0.07]
CAATTGGCAA GATT
G
GTCTA GGTCTTTAGA TATTAAATCT AGCCATAGGA
8250 |
var(8215):[A:0.02]
GGCAATAAGA AAAAGAAAAA CTTATATCAA TGATAATCTT CTGACTTGTT
8300
GATCATACTA GAGTATACT
G
T
T
A
T
G
C
A
C
C
A
C
A
T
A
A
C
C
A
C
A
T
C
T
C
T
A
T
T
G
A
8350 |
REPEAT
C
A
A
C
A
A
A
C
T
G
C
A
T
A
A
A
T
G
A
A
G
A
T
G
A
T
C
C
C
A
T
A
A
G
A
T
T
A
T
A
T
T
A
C
T
G
T
A
T
T
8400
T
T
T
G
C
T
A
T
A
C
C
T
T
T
T
C
T
A
T
A
T
T
A
G
G
T
A
T
T
T
T
T
A
G
A
A
C
A
C
A
A
G
T
A
A
G
T
G
C
C
8450
A
T
T
G
T
G
T
T
A
C
A
G
T
T
G
C
C
T
A
C
A
G
T
A
T
C
C
A
G
T
A
T
A
G
T
A
G
C
A
T
G
C
T
G
T
A
C
A
G
G
8500
T
T
T
G
T
A
G
C
C
T
A
G
G
A
G
C
A
G
T
A
G
G
C
T
A
G
A
C
C
A
T
A
T
A
G
C
C
T
A
G
G
T
G
T
G
T
A
G
G
A
8550 |
var(8530):[G:0.26]
G
G
C
T
G
T
T
G
T
A
C
C
A
T
C
T
A
G
G
T
T
T
G
T
G
T
A
A
A
T
T
C
T
C
T
C
T
A
T
G
A
T
G
T
T
T
G
C
A
T
8600 |
var(8588):[C:0.03]
A
A
T
G
A
T
G
A
A
A
T
C
A
C
C
T
A
A
T
G
A
C
A
C
G
C
T
T
C
T
C
C
A
A
A
T
G
T
GG TGCATAACTG
8650
TATATGTAAG CATGTCTTCG TGTTTAGGAA ATAATACAAA AATATTTAAA
8700
C
A
A
A
T
G
G
T
T
C
A
G
A
A
T
A
A
A
A
A
G
A
A
T
A
A
A
G
C
A
A
G
T
A
A
A
T
G
T
T
A
A
G
T
A
A
A
A
T
G
8750 |
REPEAT
T
T
A
A
T
A
T
T
T
G
A
G
G
A
A
C
C
T
G
G
G
T
G
A
A
T
G
G
T
G
T
A
T
A
G
G
A
GAA AAGTTAAAAT
8800 |
var(8782):[G:0.02]
GTTGGCATTA AAATTATAAA TTCAGACACC TATTTTTAAA ATTCATGAAT
8850
AGTTTATAAA TGCTTAGGAG TTAACCTTTT AATAAAGTTT GTCC
C
T
C
C
A
C
8900 |
REPEAT
T
C
A
T
A
T
G
T
C
T
G
G
G
G
T
A
T
T
G
G
T
T
G
G
G
G
G
A
G
C
A
G
A
T
G
G
T
G
G
A
G
T
C
A
A
G
A
C
T
A
8950
T
G
G
A
C
T
G
G
A
A
C
A
C
A
T
A
C
A
T
A
T
G
T
C
C
T
T
T
C
C
A
G
C
A
T
G
G
C
A
G
T
C
T
C
A
G
G
G
T
G
9000
G
T
T
G
G
A
C
T
T
T
T
T
A
C
A
T
G
G
C
A
G
T
T
C
C
A
G
G
G
T
T
C
C
T
G
G
A
G
G
G
A
G
T
G
T
T
C
C
A
A
9050
A
A
G
C
C
T
T
G
A
A
T
G
G
A
A
G
T
G
G
C
A
G
A
T
T
A
T
C
T
T
A
A
G
G
C
C
A
A
A
C
C
T
C
A
A
A
A
G
T
C
9100
C
C
A
G
A
A
T
A
T
T
C
T
T
T
C
C
C
T
G
T
A
G
T
A
A
G
C
A
A
G
C
T
A
C
T
A
A
G
G
T
C
T
G
G
A
T
T
C
A
A
9150 |
var(9114):[C:0.01]
A
G
G
G
G
A
G
G
G
G
C
A
T
T
A
G
G
T
T
T
C
A
T
C
A
T
T
C
A
A
A
G
G
G
G
A
G
T
A
G
C
A
A
A
G
A
A
T
T
T
9200
G
C
A
G
T
T
C
C
T
A
T
T
T
A
T
C
T
G
C
C
A
C
A
ATGAGAT CTTATTTAAC ATATGATTTT
9250
AAAAAATTCC AAAAAGATTT AGAAATCCTA CGTTTCTGAG TCTAATTTGG
9300
GATCATAGTT TATACAATTA TTCTAGTGAC ACATGTCATT GAAGGATATT
9350
AAGTTGTTTA TAACTGCCTA AGTGAGCAAA CATTT
G
GACA GTACAGTAAG
9400 |
var(9386):[C:0.01]
AATCTA
T
C
T
A
C
G
A
A
C
C
C
A
A
A
A
G
T
A
T
C
T
G
A
G
T
C
A
G
G
T
C
T
A
A
A
T
C
A
A
T
T
T
A
G
9450 |
var(9407):[:0.04]
|
REPEAT
A
A
G
G
T
T
T
A
T
T
T
T
G
C
C
A
A
G
G
T
T
A
A
G
G
A
C
G
C
A
C
C
C
A
T
G
A
C
A
C
A
C
C
C
T
C
A
G
G
A
9500
A
G
T
C
C
T
G
A
C
T
A
C
C
T
T
G
T
G
G
A
C
A
T
G
T
G
C
C
C
T
A
G
G
T
T
G
T
T
G
A
G
G
T
A
C
A
G
C
T
T
9550
G
C
A
A
G
T
C
A
A
T
A
C
C
C
T
G
A
G
A
C
A
C
C
A
A
A
G
G
T
T
G
C
A
G
C
A
G
A
A
A
A
A
A
A
A
T
T
T
T
A
9600 |
REPEAT
A
T
T
G
T
A
A
G
G
C
C
G
C
C
A
A
A
C
C
A
G
G
G
G
A
C
T
G
G
A
G
G
A
A
A
C
T
T
C
A
G
A
T
T
C
T
C
C
T
T
9650
G
A
G
A
A
G
T
T
T
G
G
A
G
C
T
T
G
A
G
A
C
T
T
A
A
A
G
A
G
G
T
T
T
G
G
A
G
T
G
G
A
C
C
A
A
G
G
T
G
T
9700 |
var(9652):[G:0.14]
G
A
G
G
A
T
T
G
T
T
G
A
T
T
G
G
T
C
A
G
A
G
T
G
C
A
A
T
G
A
T
G
A
A
G
T
C
A
T
G
G
G
A
T
C
T
A
G
A
G
9750
A
T
G
A
A
G
A
A
A
C
T
G
C
A
T
T
C
T
C
A
T
G
C
T
G
A
T
T
C
G
G
T
T
C
C
T
G
T
C
G
G
G
G
T
G
T
C
T
T
C
9800
A
A
A
C
T
G
G
T
T
G
G
T
G
T
C
A
G
C
T
T
T
C
T
G
C
T
G
G
A
A
T
T
C
A
G
C
G
T
C
T
G
A
A
A
A
A
C
A
T
C
9850
T
T
A
A
G
C
A
A
T
G
C
T
T
A
A
A
C
A
A
A
A
G
C
C
T
T
A
T
G
A
T
T
C
T
G
A
T
G
T
C
A
G
A
G
A
T
C
C
T
A
9900
C
C
C
A
T
A
G
G
A
G
C
A
A
T
G
G
G
G
A
T
G
C
A
A
G
T
C
A
T
C
A
G
T
A
T
A
T
A
G
G
G
C
T
A
T
G
G
G
A
T
9950
G
A
C
T
T
T
C
C
G
T
A
G
A
A
A
G
A
A
G
T
G
G
G
C
C
A
A
A
G
T
G
C
A
G
C
G
T
G
A
T
T
A
A
T
G
C
T
C
A
A
10000 |
var(9962):[C:0.27]
T
T
A
T
A
T
T
T
C
T
G
T
C
T
A
G
A
A
C
C
T
G
G
C
A
T
G
C
A
A
T
T
C
T
T
G
T
T
A
A
C
C
C
T
G
T
A
A
G
G
10050 |
var(10012):[C:0.07]
A
C
A
G
T
G
T
C
A
C TT
T
TAGGGCT CTTTTAAAAT TTGTCTGTAA AATGAGGGCT
10100 |
var(10063):[C:0.16]
ACAAATACAA AATAATTCTT AATCAATTTA TAGATTATTT GCAAAGCCAT
10150
GTTTTATTCT GATCTTGCCA G
T
G
T
T
G
A
C
C
T
A
A
C
C
A
A
T
G
A
A
G
A
A
A
C
A
A
C
T
G
10200 | Exon 3
V D L T N E E T T 93
A
T
T
C
C
A
C
C
A
C
T
T
C
T
A
A
A
A
T
C
A
G
C
C
C
A
T
C
T
G
A
A
G
A
T
A
C
T
C
A
G
C
A
A
G
A
A
A
A
T
10250
D S T T S K I S P S E D T Q Q E N 110
G
G
C
A
G
C
A
T
G
T
T
C
T
C
T
C
T
C
A
T
T
A
C
C
T
G
G
A
A
T
A
T
T
G
A
T
G
G
A
T
T
A
G
A
T
C
T
A
A
A
10300
G S M F S L I T W N I D G L D L N 127
C
A
A
T
C
T
G
T
C
A
G
A
G
A
G
G
G
C
T
C
G
A
G
G
G
G
T
G
T
G
T
T
C
C
T
A
C
T
T
A
G
C
T
T
T
GTAAG
10350
N L S E R A R G V C S Y L A L 142
TATTATCACT TCTATTTAAT AGTAATGTGT CTTATGTATA TACAAAGTAA
10400
CAGTTCAAGG TTGTGGGCTT TAGAATTAAA CCTAAGTTCA ATGTCCAGCT
10450
CTGAGAAGAA ACATCTGAAG AATTAAGATG ATTGCCTCTG AGAGCAGGAT
10500
TGCAGGCTGC AGCAAAGAGG GAACACTAAT TTTCGTTAGA AGCCTTTTAG
10550
TACTGTTTTC TTCTTCAACT TTGTTTATCG TAACTA
C
GTG AAATTAAAAC
10600 |
var(10587):[T:0.02]
TACCAAAAAG ATCTATTTG
T
G
C
C
C
C
A
T
G
C
T
G
G
C
T
C
T
G
T
G
A
C
C
T
T
G
G
C
C
A
A
10650 |
REPEAT
|
var(10623):[T:0.14]
A
T
C
A
C
T
T
A
A
G
T
T
C
T
C
T
G
G
A
C
A
G
T
T
T
T
C
T
T
C
A
T
T
G
T
G
G
T
T
A
A
T
A
A
C
T
G
C
T
T
10700
C
A
A
G
A
G
G
A
T
T
G
AAAGAAACA TTGAAAGCAT CTCTTAGTG
T
GTAGGACCAT
10750 |
var(10740):[G:0.09]
TGAAGTCTCT CAATATGGCG GTTTCTATTG TCAGTTTTTC TAGTTCTTTT
10800
TGATATATTT GTTACAGTAC TACATTAATA AATAGCACAC ATCTTTCTCA
10850
TTTTATAGTT ATCAAAGATC AGCATAAACA CTCAATATTA GGTGCCCTAG
10900
AGGGTTTTTT GTTTTTGGTA TGTTGTGGGA TTTCCTTCAT TTAGGTAGCT
10950
GAAAATGAAA TGGTATACTT GGTATTTGTC ATAAATTGAT GTTTTTCATT
11000
AG
G
T
A
C
A
G
C
C
C
A
G
A
T
G
T
G
A
T
A
T
T
T
C
T
A
C
A
G
G
A
A
G
T
T
A
T
T
C
C
C
C
C
A
T
A
T
T
A
11050 | Exon 4
Y S P D V I F L Q E V I P P Y Y 158
T
A
G
C
T
A
C
C
T
A
A
A
G
A
A
G
A
G
A
T
C
A
A
G
T
A
A
T
T
A
T
G
A
G
A
T
T
A
T
T
A
C
A
G
GTAACA
11100
S Y L K K R S S N Y E I I T 172
ATTTTTGTTA TTCAACTTGT CTTTTCTTTG AAAAACAGAT CAGTGAAAGA
11150
GATAAATCAA AGTTGGTCT
A
TTGGGACATA GAGAGGAAAA AGCACAAATA
11200 |
var(11170):[C:0.39]
AATAAGTTTG AGAAAAATAA GCAAGACACA GAATAC
T
ACA AGAATTATAG
11250 |
var(11237):[C:0.15]
GAGAATATTT TATACAACTT AATA
T
T
A
A
T
A
GTGTGAAAAG GAAATGGATG
11300 |
var(11275):[:0.16]
ATTTTTCAGG AAAATATAAA TTACTAAAAT TTGAG
A
AACA ACACCTTTTT
11350 |
var(11336):[T:0.09]
GGTGAAATTC AGTTGTTAAA AGTTTTAACT GAAATAATCA CATTGTGGTT
11400
AT
T
A
T
GCTTT TTCAAAAAGT CTTTATTTTA TAATTCCTTA TTTATTTTGT
11450 |
var(11403):[:0.39]
TGTTCTTTTT GTACTTTTTT TGCCCTGAGT AATTTAGTTT TTAAATTTTC
11500
CATCTAATTT GTTTTTGCTA AATATATTTA AAATACTACT TTGGCCACAT
11550
CTCGTGATTT TCATATA
C
A
G
T
C
T
T
T
C
C
T
T
G
G
T
A
T
T
C
T
C
A
G
A
G
G
A
T
T
G
G
T
T
11600 |
REPEAT
C
T
A
G
G
G
T
T
C
C
T
C
A
A
T
G
G
A
T
A
C
C
A
A
A
A
T
T
C
G
C
A
C
A
T
A
C
T
C
A
G
T
T
T
C
C
T
C
A
G
11650
T
C
T
G
C
T
C
T
G
C
A
G
A
A
C
C
C
A
T
C
T
A
T
A
T
G
T
G
C
G
C
A
C
T
C
C
A
T
T
T
C
T
G
C
A
G
G
T
T
T
11700 |
var(11652):[G:0.13]
|
var(11667):[T:0.14]
C
A
T
G
T
C
C
T
G
G
G
A
A
G
A
C
T
G
T
A
T
T
T
T
C
A
A
C
C
T
G
C
A
T
T
T
G
G
T
T
G
T
G
G
A
T
G
C
A
G
11750
A
T
A
C
A
G
A
G
G
A
C
C
A
A
C
C
G
T
A
T
T
T
A
C
T
G
A
A
A
A
A
A
T
A
T
C
T
G
T
A
T
A
A
G
T
G
G
A
C
C
11800 |
var(11759):[A:0.09]
T
T
G
A
A
G
T
T
C
A
C
T
T
G
T
G
T
T
G
T
T
C
A
A
G
T
G
T
C
A
A
C
T
G
TATAGT GCTTTCTTTG
11850
ACTTTCATTT TTATATAGTA TGTGATTTTT AGTTTCAATC GACTCCTTAA
11900
TCGAGAATTT CTAAGGAGAG GGTTCTCTCT CAGTCTGTGT GTGTCTCTCT
11950
TTATGGAACT ATTTT
G
TATT CTCTTGGGGA TTCTTTTAGG A
T
T
T
C
T
G
A
T
T
12000 |
var(11966):[T:0.13]
|
REPEAT
C
C
C
A
T
G
C
T
T
C
C
T
T
C
T
T
G
G
T
T
T
A
C
T
T
C
C
T
T
A
T
T
T
T
A
T
T
G
G
A
G
C
A
C
C
T
T
C
T
C
12050
T
A
A
T
T
A
A
T
T
T
C
T
A
G
G
A
A
A
T
A
G
T
G
C
A
T
G
G
A
T
A
G
T
G
A
A
G
T
T
T
T
T
G
A
A
T
C
C
C
A
12100
G
C
A
T
A
T
T
T
G
A
A
A
A
T
G
T
C
T
G
T
G
T
C
G
T
A
G
C
T
T
T
G
T
A
G
T
T
C
T
T
G
A
T
A
G
T
T
T
G
G
12150 |
var(12140):[G:0.01]
C
T
G
A
A
G
A
T
A
G
G
T
A
T
C
T
G
G
G
T
A
A
A
T
A
G
A
T
G
T
T
T
T
C
C
T
T
C
A
G
A
A
T
T
C
T
G
A
A
G
12200
G
C
A
T
T
C
T
T
C
A
A
T
G
T
C
T
T
C
T
A
G
T
T
T
C
C
A
T
T
A
T
T
G
A
T
G
A
T
G
G
G
T
G
A
T
A
A
G
G
C
12250
T
G
A
T
G
C
C
A
T
T
C
T
A
A
T
T
T
T
T
A
T
T
C
T
T
T
T
C
T
T
T
T
T
C
C
C
T
A
C
T
C
T
C
T
G
G
A
A
G
C
12300
T
T
T
G
A
G
G
G
T
C
T
T
C
T
T
T
T
T
A
A
C
C
C
T
C
G
T
G
T
T
C
T
T
T
G
G
G
T
C
T
T
T
T
T
A
A
A
A
T
C
12350
T
A
T
T
G
T
A
C
T
G
A
A
T
G
C
T
T
G
G
T
G
G
G
A
A
C
T
T
T
T
A
T
T
C
T
G
T
G
G
A
A
T
T
T
T
A
A
T
A
T
12400
G
T
G
G
A
A
A
A
C
C
T
T
A
G
T
T
G
G
A
A
A
A
T
C
C
T
T
T
T
C
C
C
T
C
T
C
C
C
T
C
C
C
T
C
C
C
A
C
C
A
12450
T
T
C
C
C
C
T
C
G
C
C
T
C
T
C
C
T
T
T
C
A
T
T
A
T
C
T
T
T
G
T
T
A
T
T
T
C
T
C
T
T
T
C
C
T
T
T
T
C
T
12500
C
C
C
T
G
T
C
T
C
T
T
C
T
T
T
C
C
T
C
C
C
T
T
A
A
G
T
T
T
T
T
T
T
A
C
T
C
T
C
C
C
A
T
T
T
T
T
C
T
G
12550
A
A
T
T
C
C
C
T
C
T
G
T
T
A
A
A
C
G
G
T
G
G
A
T
C
T
C
C
T
G
G
G
T
T
G
A
T
C
C
T
T
G
A
A
T
T
T
T
C
T
12600 |
var(12563):[C:0.19]
T
A
A
C
T
T
T
C
T
C
T
T
A
T
T
C
T
C
C
T
A
T
C
T
C
T
A
T
T
G
A
C
T
G
T
T
C
T
A
C
T
T
T
C
T
T
G
G
C
A
12650
A
C
T
A
T
C
T
T
G
A
C
T
T
T
T
A
G
A
T
A
G
C
A
T
T
A
T
T
T
T
A
A
T
T
T
C
C
T
A
G
G
C
C
T
C
C
T
A
T
T
12700
C
A
C
T
G
A
A
T
A
T
C
T
T
T
T
T
T
A
T
G
G
C
A
C
A
C
T
T
T
T
C
T
T
G
G
T
T
T
A
T
G
G
A
T
A
C
A
G
T
A
12750
T
C
T
T
T
T
T
T
G
T
T
A
G
T
T
T
T
T
T
G
T
T
T
G
T
T
T
T
A
G
G
T
T
T
T
A
A
T
C
T
C
T
T
T
C
C
C
T
G
C
12800 |
var(12751):[C:0.08]
A
T
T
G
T
T
T
T
T
A
T
T
T
C
C
T
T
C
T
T
T
T
T
G
T
T
T
A
T
T
T
T
G
A
T
T
A
T
G
T
T
A
T
G
T
C
A
G
T
A
12850
T
C
C
A
T
C
A
T
G
T
C
A
T
G
T
T
A
G
A
C
C
T
G
T
T
C
C
T
T
A
A
A
T
A
T
G
T
A
G
G
G
A
T
C
C
T
T
G
G
C
12900
T
T
T
T
G
G
T
T
C
A
C
A
T
T
T
A
A
A
C
A
C
C
A
A
A
C
A
C
T
A
A
A
A
T
G
T
T
G
A
T
T
A
C
A
G
T
T
T
A
G
12950
T
A
T
G
C
C
T
G
A
G
C
A
A
G
G
C
T
A
A
G
T
A
G
T
T
T
A
C
C
T
T
A
C
T
G
G
A
C
A
G
G
G
G
T
G
A
G
G
G
A
13000
T
T
G
A
T
T
G
T
A
G
A
G
C
A
A
A
C
T
G
C
T
T
A
T
T
C
A
T
T
T
G
A
G
G
G
A
G
A
C
C
C
A
C
A
A
T
T
G
T
C
13050
A
G
T
G
T
G
T
T
G
G
T
A
T
A
T
A
C
A
G
G
C
C
T
T
T
A
A
T
C
T
G
A
G
A
C
C
A
T
T
T
T
G
T
T
T
C
T
C
C
A
13100
A
A
A
A
A
G
A
G
T
T
A
T
T
T
A
G
C
T
T
T
C
T
G
C
C
T
T
C
T
G
G
G
T
G
T
T
G
G
G
A
C
T
G
G
G
G
T
G
G
T
13150
G
T
G
C
T
T
G
T
T
T
T
G
C
C
T
A
C
C
T
T
C
T
G
G
A
A
G
C
A
G
G
T
G
A
G
G
G
G
A
A
G
G
G
A
G
C
T
G
A
G
13200 |
var(13183):[C:0.14]
T
A
G
G
C
A
C
A
C
T
T
T
A
C
T
T
A
A
T
C
A
G
T
G
T
T
C
A
A
C
C
T
A
T
T
C
A
C
C
T
A
T
C
A
G
C
C
G
T
G
13250
G
G
C
T
A
A
C
A
T
G
C
A
T
G
C
C
C
C
T
C
C
C
T
G
T
G
G
C
T
G
G
T
G
A
C
T
C
T
G
G
A
G
C
C
T
C
T
A
A
A
13300
A
T
T
T
A
G
T
T
C
T
A
T
G
T
A
A
A
A
C
T
G
T
A
G
T
C
T
C
C
T
G
T
T
A
A
T
A
G
A
G
G
G
A
C
A
G
T
C
A
C
13350
T
T
A
G
C
T
C
T
A
A
G
G
A
G
T
T
G
A
G
G
A
A
A
C
C
T
G
G
G
G
G
T
T
G
T
T
T
A
A
C
C
C
C
A
T
A
T
C
C
A
13400 |
var(13380):[A:0.14]
G
A
C
C
T
T
G
A
A
C
T
G
G
C
C
C
T
C
C
T
C
T
T
C
T
T
A
G
C
T
C
A
G
C
A
C
C
T
T
A
C
C
T
T
T
T
G
T
G
G
13450 |
var(13418):[T:0.01]
T
A
C
C
T
T
T
A
T
G
T
T
C
A
A
G
C
A
C
T
A
A
G
T
G
T
T
T
C
C
A
G
A
T
T
T
T
G
G
T
G
G
A
A
C
A
A
A
T
C
13500
T
G
C
T
T
G
C
T
T
C
C
T
G
T
C
T
A
T
G
G
T
T
C
T
C
T
G
C
T
A
C
A
G
T
C
A
C
T
C
A
A
G
T
G
G
T
T
T
C
C
13550
T
T
C
T
C
T
T
C
T
G
A
T
A
A
A
C
C
G
G
T
T
A
C
C
A
C
T
T
C
T
C
C
A
T
C
T
G
T
T
T
T
C
T
G
T
T
T
T
C
T
13600
G
A
A
A
A
A
C
T
G
T
T
G
G
A
A
G
C
T
T
T
C
A
T
T
C
A
T
G
G
C
C
T
C
T
A
C
T
C
C
T
A
T
T
T
T
C
T
G
T
T
13650
C
T
T
G
C
A
G
G
T
T
T
A
T
A
T
C
T
T
T
C
T
A
G
A
T
T
T
T
T
A
T
T
C
A
T
T
T
A
C
T
A
T
A
A
T
T
T
T
TC
13700
TGAAACTTCT AGTATGAGAA GTAGTAAGTG GCTATCAGCT GGCCACAGTT
13750
CATCTCATCT ACTCTGTGTC TTTCAGAAAT TTCTCAAATT TTCTCATCTG
13800
ATATTGGCAG CATTATTTTT TGGCACTTGT TTACA
T
T
T
T
T
T
T
T
C
A
T
T
T
T
T
13850 |
REPEAT
A
T
T
T
A
T
T
C
A
T
T
T
A
T
T
T
T
G
A
G
A
C
G
G
A
A
T
T
T
C
A
C
T
A
T
T
G
T
T
G
C
C
T
A
A
G
C
T
A
G
13900
A
G
T
G
C
G
A
T
G
G
C
A
C
G
A
T
C
T
C
A
G
C
T
C
A
C
C
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
13950
A
G
T
G
A
T
T
T
G
C
C
T
A
A
T
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
14000 |
var(13958):[C:0.14]
|
var(13969):[A:0.18]
C
C
A
C
C
A
C
G
C
C
C
G
A
C
T
A
A
T
T
T
T
G
T
G
T
T
T
T
G
T
A
G
A
G
G
C
A
G
G
G
T
T
T
C
T
C
C
A
T
T
14050 |
var(14012):[A:0.14]
T
T
G
G
T
C
A
G
G
T
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
C
G
14100 |
var(14091):[A:0.09]
|
var(14100):[A:0.14]
A
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
A
C
T
G
T
G
C
C
T
G
G
T
C
TTT
14150
TTTTATTTTA TTTTATTTCT TCTAAGCTTC TAGCTAAAAT TTGGGAGGGA
14200
GGAGGTAGAC TTGTTTGGCC ATGATGAACT ATTTTGAAAT AATAGTTTAA
14250
AGATTTAGAT CCATGTAAAT ATCTGTTACC TGTTTGCTAT AAAATTCTTC
14300
AA
T
AGGCAAA CTTGTGGTAA ACTGAAAATA ACTCTCACCT TCTCA
G
CCTA
14350 |
var(14303):[G:0.01]
|
var(14346):[A:0.02]
AATTCTTTTC CACAAACATT TGTAG
G
T
C
A
T
G
A
A
G
A
A
G
G
A
T
A
T
T
T
C
A
C
A
G
C
14400 | Exon 5
G H E E G Y F T A 181
T
A
T
A
A
T
G
T
T
G
A
A
G
A
A
A
T
C
A
A
G
A
G
T
G
A
A
A
T
T
A
A
A
A
A
G
C
C
A
A
G
A
G
A
T
T
A
T
T
C
14450
I M L K K S R V K L K S Q E I I 197
C
T
T
T
T
C
C
A
A
G
T
A
C
C
A
A
A
A
T
G
A
T
G
A
G
A
A
A
C
C
T
T
T
T
A
T
G
T
G
T
G
C
A
T
GTGAGT
14500
P F P S T K M M R N L L C V H 212
AATTTTTAAA AATTGAGTGT TTTATAAAAA AAAGATTTTT TCATAGTTTT
14550
GTGTTATTAT TCTTTTTAAA ACCATTGCCT TTAGAGAAAA ATTTGCTTCA
14600
CACATGTAGA TTCTTTTAGA TAGTCTTTAA CACTCTCTAA AATTAATTTT
14650
TTACATAAAT TTTAAATGCA GATAGAATTC TCAGTCTATT
A
TTTTCTTAA
14700 |
var(14691):[G:0.27]
GAATATTTGA GTTTGCTGAC ATTCCACATT TGCTTCCTAA AGTAATGTTT
14750
TTACTTTCTA
C
TCTATACAT GCTGCTATAT TTTACTCTAT GAGACTTACA
14800 |
var(14761):[T:0.01]
AAAATGAAAA ATAGATCTTG CTCTGATATA GTATATAGAT TAGTAAGGGA
14850
GAGTGTGTAT ATAGTAA
C
TA AAACATAAGA AAGGCATAAG TGCCACAGGA
14900 |
var(14868):[T:0.07]
GAGGTATAAA TGATGTGTGG AAGTTTAGAG AAAGGAGAGA TGACTTTTAG
14950
CCAGATTGT
T
T
A
G
T
G
A
G
A
G
T
T
T
T
A
T
A
G
A
G
G
A
G
A
T
G
G
T
A
T
T
T
G
A
A
A
T
G
A
A
C
15000 |
REPEAT
C
C
T
G
A
A
A
A
A
T
A
T
G
T
A
A
G
A
C
A
T
A
C
A
T
A
T
T
A
A
A
A
A
G
A
G
T
C
C
A
A
G
T
A
G
A
G
A
A
A
15050 |
var(15013):[A:0.06]
C
C
A
C
C
A
T
G
A
G
C
A
A
A
CTTTTG CAAGTTGCAA GAGGTGTACA TGTATGAGTA
15100
TGAATGAGCA TTCTATTCAG TTGAGTGTAG GGGCCATGGA GAGGCAAATG
15150
TGACAGGTTG AGAAGTAGGT AGGCTCCTGA TTATAGAAGA GCATGAATGA
15200
CCAATATGAA AGAATTAGAC TTGATTCTGC AGACACTTAG TATAATGATA
15250
GATTGTACAT TGTTGGTGTC TTAATTGCAA ATGGTAAATG ATTCTC
A
T
T
C
15300 |
REPEAT
A
T
T
C
A
G
T
T
A
A
C
T
G
A
C
T
T
T
T
T
T
G
G
A
A
T
A
C
C
T
G
T
A
T
G
C
C
A
G
G
C
C
C
T
T
A
A
T
A
A
15350
T
A
C
A
G
C
A
A
T
A
A
A
T
A
A
G
A
A
T
C
A
T
C
T
C
T
G
C
T
T
T
G
C
A
A
A
T
G
A
C
T
T
A
T
G
G
C
T
T
T
15400 |
var(15385):[G:0.01]
G
T
A
G
G
A
G
G
G
A
A
A
T
A
A
T
T
G
T
C
C
T
T
T
T
A
A
T
T
T
A
G
C
C
T
A
G
G
G
G
G
C
T
T
T
G
A
A
A
C
15450
A
G
T
C
T
G
T
T
C
A
G
C
A
T
G
C
C
T
T
T
G
G
T
G
T
A
T
T
G
A
G
G
A
G
G
G
A
G
C
C
G
C
T
G
A
T
G
G
C
C
15500
T
G
G
G
G
A
C
A
C
T
G
G
G
G
A
A
A
G
G
T
T
C
A
C
A
G
T
G
G
A
G
G
T
G
A
C
A
T
C
T
G
G
G
GGTAGGT
15550
CGTGCTTGCT AAACCGT
C
G
T CTTTGGGGAC AGGGTTA
C
TG CTTTAATACT
15600 |
var(15568):[T:0.01]
|
var(15569):[A:0.01]
|
var(15588):[G:0.14]
TCTTTTGATC CGGAGGGATA GGCATAGTGC TGATTTTACA GTTTCAGTTT
15650
AGTAAATATA TACCATTTGA CAGAACA
A
TC TGCTGATTTT ATTATTAAAG
15700 |
var(15678):[G:0.01]
TTCAGTATTA ATAGTCAGTG GACAGTTTTA ATGACTGTTT GTCCTGCTGC
15750
AG
G
T
G
A
A
T
G
T
G
T
C
A
G
G
A
A
A
T
G
A
G
C
T
T
T
G
C
C
T
T
A
T
G
A
C
A
T
C
C
C
A
T
T
T
G
G
A
G
15800 | Exon 6 |
var(15758):[C:0.13]
V N V S G N E L C L M T S H L E 228
A
G
C
A
C
C
A
G
A
G
G
G
C
A
T
G
C
T
G
C
G
G
A
A
C
G
A
A
T
G
A
A
T
C
A
G
T
T
A
A
A
A
A
T
G
G
T
T
T
T
15850
S T R G H A A E R M N Q L K M V L 245
A
A
A
G
A
A
A
A
T
G
C
A
A
G
A
G
G
C
T
C
C
A
G
A
G
T
C
A
G
C
T
A
C
A
G
T
T
A
T
A
T
T
T
G
C
A
G
G
A
G
15900 |
var(15861):[G:0.14]
K K M Q E A P E S A T V I F A G 261
A
T
A
C
A
A
A
T
C
T
A
A
G
G
G
A
T
C
G
A
G
A
G
GTGAGTG ACAAAGTCAG TTTGATGTTT
15950 |
var(15919):[A:0.04]
D T N L R D R E 269
GAGGACAGAT TATTGCTATG GAGACTAATT TAGGTTCCTT TGACCAAAGC
16000
TGTTAAAACT AGGACCTTTA GTCACTCAAA ATGTCTTAAG TGACCTTGCA
16050
A
TTCAGCGAA TATTTGTTTA GCCTATGCTG TATGCCTAGG GGAAGAAGGG
16100 |
var(16051):[G:0.01]
GCTCTTTTTG GAGGAAAATA AAAATGTGCA TG
A
G
A
A
A
T
A
G
A
C
A
A
C
A
C
T
A
A
16150 |
REPEAT
A
C
T
A
T
A
T
G
T
G
T
G
T
G
T
G
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
T
A
G
G
A
T
T
A
G
A
A
A
G
A
A
A
G
G
16200 |
var(16168):[G:0.01]
|
var(16183):[:0.74]
T
A
G
A
G
A
A
A
A
T
G
A
T
T
G
T
A
G
A
A
G
A
G
T
T
T
A
G
A
A
A
A
G
G
T
T
G
T
T
T
C
T
TTGCAG
T
T
16250 |
var(16237):[:0.14]
|
var(16249):[:0.97]
ATTCCTA
G
GT GCAATATGAG AACAATGGAA AGATTGGACC GTG
A
TAATTG
16300 |
var(16258):[C:0.14]
|
var(16294):[G:0.14]
TTCCTGACTC TCTTTTTTTC TGAGGTTTCC TTTTCTTTTT TCTTTTTT
G
G
16350 |
var(16349):[A:0.04]
CTTTTATTAG CCTTTTTTAC CCACTTTTCC TGCCACCACC ATGTCCAGAT
16400
CTCCAGGTCT GAAACAAAGT CTCTTTCTCC CTGCCTATAG CTCAGTTGAG
16450
ACACAGT
G
G
G
ATTTTTCAGG A
C
C
T
T
A
A
A
A
A
A
T
T
A
A
A
C
A
T
G
G
A
A
T
T
A
C
T
A
A
16500 |
var(16458):[A:0.01]
|
var(16460):[T:0.14]
|
REPEAT
T
G
T
G
A
T
G
C
A
T
C
A
A
T
T
A
C
A
C
T
T
C
T
A
G
G
T
G
T
A
A
A
T
A
C
C
C
A
A
A
A
G
A
A
G
T
G
A
A
A
16550
G
C
A
G
G
G
A
T
T
T
G
A
A
T
G
T
A
T
T
T
T
G
T
C
T
A
C
C
C
A
T
G
G
A
T
G
T
T
C
A
C
A
G
C
T
G
T
G
T
T
16600
A
T
T
C
A
C
A
G
T
A
G
C
T
A
A
A
A
G
G
T
G
G
A
A
G
C
A
G
C
C
C
A
A
A
T
A
T
C
A
C
T
G
A
C
A
G
A
T
G
A
16650
A
T
A
A
A
C
A
A
A
A
T
G
T
G
C
T
A
T
A
T
G
T
A
T
A
C
A
G
T
G
G
A
A
T
A
T
T
A
T
T
C
A
C
C
C
T
T
A
A
A
16700
A
T
G
A
A
G
A
A
A
C
T
T
T
G
A
C
A
C
A
T
G
C
T
A
C
A
A
T
A
T
G
G
G
C
G
A
A
T
C
T
T
A
A
A
G
A
C
A
T
T
16750
A
T
G
C
T
G
A
G
T
G
A
A
T
G
A
A
G
C
C
A
A
T
C
C
A
A
A
A
A
G
G
A
A
A
A
G
A
T
A
C
T
A
T
A
T
G
A
T
T
C
16800
C
T
C
T
T
A
T
G
A
A
T
T
T
C
C
T
A
A
A
C
T
G
G
T
C
A
A
A
T
T
C
A
T
A
G
A
G
A
C
A
G
A
A
A
G
T
A
G
A
A
16850
T
G
G
T
G
T
T
T
G
C
C
A
G
G
G
A
C
T
G
G
G
G
G
T
A
T
A
A
G
G
G
A
A
T
G
G
T
G
A
A
T
T
G
G
T
G
T
T
T
A
16900 |
var(16890):[G:0.01]
A
T
G
G
G
T
A
C
A
G
A
G
T
T
T
C
A
G
T
T
G
G
G
G
G
A
A
G
A
T
T
A
A
A
A
G
G
T
T
C
T
G
G
A
G
A
T
G
G
A
16950 |
var(16925):[:0.82]
|
var(16936):[A:0.09]
T
G
G
T
A
G
T
C
A
T
G
G
T
T
G
C
A
C
A
A
C
T
A
T
G
T
G
A
A
T
A
T
A
C
T
T
A
A
T
G
C
T
A
C
A
T
C
A
C
T
17000
G
T
A
C
A
C
T
T
A
A
A
A
A
T
T
G
T
T
A
A
A
A
T
G
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
17050 |
REPEAT
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
G
G
G
C
A
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
G
17100
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
G
G
C
A
C
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
17150 |
var(17118):[T:0.06]
|
var(17135):[A:0.11]
|
var(17139):[G:0.04]
C
A
G
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
T
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
G
A
T
C
C
C
A
G
C
T
A
T
G
C
A
G
17200
A
A
G
G
C
T
G
A
G
G
C
A
C
T
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
G
A
A
G
T
T
G
C
A
G
T
G
17250
A
A
C
C
G
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
T
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
17300 |
var(17254):[T:0.01]
|
var(17269):[:0.06]
C
A
C
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
G
T
T
A
A
A
A
T
G
A
T
A
A
A
T
C
T
T
G
T
A
T
T
G
T
G
T
A
17350 |
REPEAT
T
A
T
T
T
T
A
C
C
G
C
A
A
ACAATTT TTTTAAATCC TGGAGTGTGA ATGAGCAAAC
17400
AGAATTAATA TTATTAATAA ACTTCAAATA AAACTGAAGG CAGTTGAAAT
17450
TTTTGGATCA TATGAATGCT ATACTTCTGA AGTTGTAGAC TAAAGTAGAG
17500
TGGCAGTTCT GCCTTCTTTT CACTTGAGTT CAGTTTTT
G
A AAACAGATAA
17550 |
var(17539):[A:0.12]
CAGCAGTAAC AGGCCATGTA TATTCAGCCT TCTAAGTTTT ATCTGAAACC
17600
CAAAGTTAGG AACCTATTTA TGGCAGAAGA GAAGGGGCAA ATTCCAAACC
17650
CCTC
T
G
G
C
T
G
T
C
T
T
G
A
T
A
T
T
T
T
T
A
T
A
T
T
A
C
A
T
A
C
C
A
C
T
A
T
G
C
A
G
C
A
T
A
G
T
17700 |
NOT SCANNED
A
C
T
T
T
T
T
A
T
A
A
T
G
T
A
T
C
T
C
A
T
T
G
T
T
T
T
G
C
A
T
T
T
C
T
G
C
A
T
T
A
A
T
A
A
T
T
T
C
T
17750
T
G
C
A
C
G
G
T
A
A
T
A
G
C
A
A
A
A
A
C
A
C
C
T
T
TTTTT TTTTTTTTTT AAGTTAGTGG
17800
GCAAAAGGCT ATGTGTATCT TA
G
AGAGTAT TCTTCTTCTT TTCAG
G
T
T
A
C
17850 |
var(17823):[C:0.47]
| Exon 7
V T 271
C
A
G
A
T
G
T
G
G
T
G
G
T
T
T
A
C
C
C
A
A
C
A
A
C
A
T
T
G
T
G
G
A
T
G
T
C
T
G
G
G
A
G
T
T
T
T
T
G
G
17900
R C G G L P N N I V D V W E F L 287
G
C
A
A
A
C
C
T
A
A
A
C
A
T
T
G
C
C
A
G
T
A
T
A
C
A
T
G
G
G
A
T
A
C
A
C
A
A
A
T
G
A
A
C
T
C
T
A
A
T
17950
G K P K H C Q Y T W D T Q M N S N 304
C
T
T
G
G
A
A
T
A
A
C
T
G
C
T
G
C
T
T
G
T
A
A
A
C
T
T
C
G
T
T
T
T
G
A
T
C
G
A
A
T
A
T
T
T
T
T
C
A
G
18000
L G I T A A C K L R F D R I F F R 321
A
G
C
A
G
C
A
G
C
A
G
A
A
G
A
G
G
G
A
C
A
C
A
T
T
A
T
T
C
C
C
C
G
A
A
G
T
T
T
G
G
A
C
C
T
T
C
T
T
G
18050
A A A E E G H I I P R S L D L L 337
G
A
T
T
A
G
A
A
A
A
A
C
T
G
G
A
C
T
G
T
G
G
T
A
G
A
T
T
T
C
C
T
A
G
T
G
A
T
C
A
C
T
G
G
G
G
T
C
T
T
18100
G L E K L D C G R F P S D H W G L 354
C
T
G
T
G
C
A
A
C
T
T
A
G
A
T
A
T
A
A
T
A
T
T
G
T
A
A
A
A
T
G
C
T
T
T
T
C
A
A
G
T
G
T
G
G
G
T
T
T
T
18150 |
UTR
L C N L D I I L 362
G
C
C
C
T
G
A
T
T
G
T
T
G
C
A
A
A
T
A
C
A
A
T
T
T
C
C
A
C
C
T
T
C
T
G
G
A
A
A
G
G
T
A
G
G
T
T
T
G
C
18200 |
var(18159):[G:0.01]
T
G
T
G
G
A
G
G
A
A
A
T
A
A
T
G
T
A
C
T
A
G
A
T
C
A
T
T
G
T
C
A
C
A
G
A
A
A
A
A
C
C
A
A
C
T
A
T
G
A
18250
T
T
T
A
T
G
G
T
T
G
T
G
T
T
T
T
C
A
G
A
A
T
T
C
A
A
C
A
T
T
A
A
A
G
A
T
T
A
A
T
G
T
T
T
A
T
T
T
A
A
18300
A
C
G
A
A
C
A
C
A
T
T
C
C
T
G
C
A
T
T
C
A
G
G
A
T
G
T
G
A
G
G
C
C
A
T
T
T
A
A
T
A
A
A
A
A
G
G
G
C
A
18350
C
A
A
A
G
C
C
T
G
T
C
A
G
A
G
T
T
T
T
C
A
A
C
G
G
T
G
C
T
T
A
T
A
G
C
T
G
C
C
A
G
C
T
G
G
A
T
T
C
C
18400 |
var(18382):[C:0.22]
A
A
A
C
A
G
G
T
A
C
C
C
C
A
T
T
G
T
C
T
C
T
G
A
G
C
T
A
A
T
G
T
T
T
A
T
A
T
T
T
T
T
C
C
A
T
T
C
A
G
18450 |
var(18412):[A:0.16]
|
var(18427):[C:0.02]
G
C
A
C
C
G
A
A
A
T
A
G
T
T
A
A
T
A
T
T
T
A
A
A
A
T
A
A
G
T
C
T
T
C
A
A
A
A
G
A
A
A
A
C
A
T
A
A
G
A
18500 |
var(18472):[G:0.27]
G
A
T
T
A
T
T
G
A
G
T
T
C
T
T
G
G
G
A
C
T
G
G
A
T
C
C
T
T
T
A
T
T
T
C
A
T
A
A
G
T
T
C
A
G
A
T
C
A
T
18550 |
var(18517):[A:0.03]
C
T
T
A
A
A
T
G
A
A
A
A
T
G
C
C
A
T
G
A
T
T
A
T
C
T
G
C
A
G
T
T
A
A
G
T
A
G
A
T
G
A
C
A
G
C
T
A
T
T
18600
C
T
A
C
A
T
C
A
G
A
C
T
T
G
A
T
T
T
T
T
G
T
C
A
G
C
T
A
A
T
T
A
C
A
T
A
A
T
T
G
G
T
A
A
G
C
T
A
T
A
18650
A
T
T
G
A
A
A
C
C
T
T
A
T
G
G
C
T
T
A
A
A
A
T
T
C
C
T
T
A
A
C
T
C
C
T
T
T
T
T
G
A
T
T
C
A
T
G
T
T
T
18700
G
T
A
G
T
C
A
T
G
T
T
G
T
C
A
A
C
A
G
A
G
G
C
A
A
A
G
T
T
A
A
G
C
T
T
G
A
T
G
A
T
G
G
T
T
A
A
A
A
T
18750
C
G
G
T
T
T
G
A
T
A
G
C
A
C
C
A
T
G
G
G
A
C
A
T
T
T
T
T
C
T
A
A
C
A
A
A
A
A
T
A
A
A
T
G
C
A
T
G
A
A
18800
G
A
G
A
C
A
T
A
G
C
C
T
T
T
T
A
G
T
T
T
T
G
C
T
A
A
T
T
G
T
G
A
A
A
T
G
G
A
A
A
T
G
C
T
T
T
A
C
A
G
18850
G
A
A
G
T
A
A
A
T
G
C
A
A
A
T
T
A
C
T
T
T
T
A
A
G
T
G
T
G
C
T
T
T
A
A
A
G
A
A
A
A
A
T
A
T
T
T
T
C
C
18900
C
C
A
C
A
A
G
A
G
A
A
A
T
T
T
A
A
A
T
A
A
A
G
A
A
T
T
T
T
A
T
T
T
G
T
T
T
A
TG GTTTGTTTTA
18950 |
var(18906):[G:0.16]
GTATGTTTTT GTGTCCATGA TGAGATTAAA TTTTTTATCT GCTTCCTGCT
19000
TCTGGCTCTA CTGCTGCTTC TTCCTCTTTG TGTAGAAGAA AACAGATTTC
19050
CATTTGCTTC TCACTCCACC AAGAATTACC AAGAATATAT CTGCTTCCTT
19100
TGTCTGAAAA AAAGCCAGCG AGAATAATTA GAAGTAATAG AATCTTATTT
19150
ATATCAGGAG TGCCAAAATT TAAACACCTA AAAAAAGATA TTTATATATA
19200
ATATTCCCTT TGTAGTGACA ACGAAAAAGT TTAAATGTTA ATCATAATTT
19250
TAATCATTAA AAATAAAAAA TGAG
G
G
C
C
G
G
G
T
G
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
19300 |
REPEAT
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
19350
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
19400
A
A
A
A
A
A
T
T
A
G
C
C
G
G
A
C
G
T
G
A
T
G
G
C
T
A
G
T
G
C
T
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
19450 |
var(19425):[G:0.23]
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
A
C
G
A
A
C
C
C
A
G
G
A
A
G
C
A
G
A
A
C
T
T
G
C
A
G
T
G
19500
A
G
C
C
A
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
19550
A
T
C
T
C
A
A
A
A
A
T
A
A
A
A
T
A
A
A
A
A
A
TGAGAATA GATGTTAATA GTAGAGTAGC
19600
ATACATCATA GAGGTAATAC AATAGTACAT TTCTGTGGGA AAAGGGTTAT
19650
TCTGGCATAA ATTGCTTTCA TTTAGAAGAG CTAAGTTAGA ACTTCAGATC
19700
ACATTGCAAA ACATAGATG
G
GTGAAAGTCT AAATTCTTAA AAAAAAAATA
19750 |
var(19720):[A:0.02]
CAGTGTAGTA TACTAGATTA AATAAAGGAT TATC
G
G
C
T
G
G
G
T
G
C
A
G
T
G
G
C
19800 |
REPEAT
T
C
A
T
G
C
C
T
G
T
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
A
G
G
T
G
G
A
T
C
A
C
C
T
19850
G
A
G
G
T
C
A
G
A
A
G
T
T
C
A
A
G
A
C
T
C
G
T
C
T
A
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
19900
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
A
C
A
C
G
T
G
C
C
T
G
T
A
A
T
C
C
19950
A
A
G
C
T
A
C
T
C
A
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
C
C
C
T
G
G
G
A
G
G
C
G
G
20000
A
G
G
T
T
G
C
A
G
T
A
A
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
20050
A
G
C
A
A
G
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
CCACTTTT AGTCTGCTTT CATGAGCAAT
20100
AGTTATCAAT GAATTAACCT ACTAATTTGC TATATCTTGA GTTTTTTACT
20150
TGGAATTTTT CAAAGTTTTT CCAGTGTAGT AGCTTTGCTT GCCTTACCTT
20200
CCTGCTTAGT GAAATTCCAA CATAGAATCT TCTGGGGTTT TTTTTTTTTT
20250
TTTTTT
C
A
G
T
C
T
C
A
A
C
C
T
C
C
T
G
G
G
C
A
C
A
A
G
T
G
A
T
C
C
T
C
T
A
G
C
C
T
C
A
G
A
C
T
20300 |
REPEAT
C
T
T
G
G
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
C
A
C
C
A
C
A
C
A
C
C
C
A
G
C
T
A
C
T
T
T
T
T
A
20350
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
T
G
T
A
C
A
G
A
G
A
G
G
A
T
C
T
T
G
C
T
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
20400
G
C
C
T
C
G
A
A
C
T
C
C
G
G
G
G
C
T
C
A
C
T
C
A
A
T
C
C
T
C
C
T
G
C
C
T
C
G
C
C
C
A
C
A
A
A
G
T
G
C
20450 |
var(20425):[G:0.01]
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
T
A
C
G
T
G
G
C
C
TAAAGTC TTGTATTTCA
20500
ATGAGGCAGC ACTGTCATTA CGCTAAGCAC CATTTTTACC ACTGATGTGG
20550
AATGTACTTT AACCTTCCTA AACCTCAGTT TTACCCACCC TCAAAATAAG
20600
TTATCTTTTA TTGTACAAAT GTCCCAACCA AAAGCATAAG CAAGAGCAGA
20650
CAAAGTTAAT TATACTAAGG ATA
C
A
T
C
A
T
T
T
T
A
T
C
C
T
T
A
C
T
A
C
C
T
C
T
T
G
C
20700 |
REPEAT
|
var(20689):[G:0.16]
A
G
T
G
T
C
T
G
G
C
A
T
A
T
A
G
T
A
G
G
A
G
C
T
C
A
A
T
G
G
A
T
G
T
C
C
A
T
T
G
A
A
T
G
CTGAAA
20750 |
var(20738):[C:0.21]
AGAAGTGAAA GGTAGTAGCC TCACATCTGT GTCCTAAAGA AGGAGACTAA
20800
CATTTTCATA CAATACCAAA ATAGATATAT TCATTAAAAA TGAAAATAGA
20850
TATTCATTAC AGTGTCTCTG AGTTAAAAAG ATGGTATAGT TAAACATTCT
20900
GGGCTAAGCC TGTGTGTGTG TGTATGTGCT AAAAATAT