APOH 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
AGTGGCAGCA CACTCTTCTT ATCATGGAAC ACAATGTTCA TTAGGATCGT
50
AATTTAAGAA TCATCTGCCT GACAGATGGA GATTTCTCAA G
C
TGATGTGT
100 |
var(92):[G:0.01]
CTCAGGGAAT TTTAGACCTC
T
G
G
A
T
A
T
A
A
A
C
C
A
A
G
A
T
C
A
C
C
C
A
A
A
T
G
A
G
A
150 |
REPEAT
G
C
A
A
G
C
G
G
A
G
G
T
T
A
T
T
T
A
T
T
C
A
G
A
G
C
T
T
G
C
T
A
T
A
G
G
A
A
G
G
G
A
G
G
C
A
G
C
C
A
200 |
var(157):[A:0.03]
|
var(186):[C:0.35]
T
T
A
A
C
A
G
T
T
G
T
G
T
T
T
G
G
C
A
G
A
G
A
C
T
C
A
A
A
G
T
C
A
A
A
G
T
C
A
G
A
C
A
G
A
G
G
A
G
T
250
G
G
G
A
A
A
G
C
T
T
T
A
T
A
A
T
A
G
A
A
A
A
A
A
G
G
A
A
A
G
G
C
T
T
C
A
G
G
T
G
T
G
C
T
C
C
A
A
C
G
300 |
var(300):[A:0.01]
G
A
T
T
G
T
T
G
G
T
A
T
G
G
G
G
A
G
G
A
T
G
G
A
A
G
G
A
A
A
C
T
A
A
C
T
A
G
A
A
G
T
G
A
G
G
T
G
T
C
350 |
var(321):[G:0.01]
C
A
T
G
T
G
A
T
T
G
G
T
T
A
G
A
G
A
A
A
T
A
T
G
T
T
T
G
G
A
T
T
T
C
T
C
T
G
G
T
T
G
G
C
C
T
T
A
A
G
400
T
T
G
G
GCCAAC TGCTATAGAG GTTGTA
G
G
T
T
T
G
G
C
T
T
T
C
T
A
G
A
C
C
T
G
T
T
G
C
450 |
REPEAT
T
A
C
A
G
A
T
G
T
G
T
G
G
G
T
C
A
G
A
G
T
T
C
T
G
T
T
T
T
C
A
C
A
T
A
T
G
G
C
C
T
G
G
C
T
A
T
T
G
T
500
C
C
A
T
T
T
A
T
A
T
A
T
C
C
TTTTTT TTTTTTTTAG AGCAAATGAT GTAGAAGAGA
550
ACTAGGGAAT CAAAGACAAC CCCCCTTCCG AACCCTCTCA AGCAACAACA
600
TCAGCACTGG CCCATT
A
TCT TATCCTACTC AAG
T
TTTTTT TTTCTTCTTC
650 |
var(617):[G:0.16]
|
var(634):[:0.84]
GAGTCCCAAG TTGTTAATTT CAAAT
C
AATT TTCAAATTCC TGAAACAGAT
700 |
var(676):[A:0.15]
CTAGAAACCT GTCTAGACAG ATCCAAGACA TA
T
TAAGAAT GGATGAGG
A
G
750 |
var(733):[C:0.17]
|
var(749):[C:0.03]
GACTTTGTAT TGATCTGACG TAAGAGAAGA TAGAGAATTC AAGG
A
TAGCT
800 |
var(795):[C:0.01]
CTAAGGTCCT AACTGGAGCT ATAGGAGCTT GCAAGAGAGG ATGTTGAGCT
850
CAGTTTGTAG GGAATTAAAG TTGTAAGTGC CTCCTGGAAG ACATTCTTTG
900
TAATTATACA TCTGAAAACT GGAACATCAT TTTAGAGAGG TGGAGACTGA
950
GAACAGAGAG TAGGTGTTTG TCCAAAGTTT ATATGCCAAG GCTGTGAGTG
1000
AAACAGGAGC TT
C
GATCTTT TGGTGTTCCA TCTACAACAT ACACAAAACA
1050 |
var(1013):[T:0.06]
AAAGATGGAG AATGAGAAGT CCAGGCAACC CCGGAAACAA CAAGTTTCTG
1100
TCAAAAGCAA TAATGAACTG TTTTGTGCCA TTAACAAAAA CGTTATGAAG
1150
ACAGAAACCA TCTCCCAAAG ATTTCATAAC AGAGCCACAT AAGTGGAAAG
1200
TAAATGATTA AAGAATGTGG GTCTCAGAGT TCCATTCAAA TCATGATACT
1250
TTATCTTCTA TTTACAAAGA TAAAAGTACA CCAGAAAATG GTTAATGTTT
1300
AAGCGCTTTC ATATTTGGCT CTGTCTTTTT AGCAGACGAA AA
C
C
A
C
T
T
T
G
1350 | Exon 1 |
UTR
|
var(1344):[A:0.06]
G
T
A
G
T
G
C
C
A
G
T
G
T
G
A
C
T
C
A
T
C
C
A
C
A
A
T
G
A
T
T
T
C
T
C
C
A
G
T
G
C
T
C
A
T
C
T
T
G
T
1400
M I S P V L I L 8
T
C
T
C
G
A
G
T
T
T
T
C
T
C
T
G
C
C
A
T
G
T
T
G
C
T
A
T
T
G
C
A
G
G
A
C
G
G
A
G TAAGTA
C
TTT
1450 |
var(1447):[T:0.04]
F S S F L C H V A I A G R 21
TTGCTTTTGA AAAAATAATT AATATATCCA ACCCCTTCGT ATATGTCAGG
1500
GATCAATAAT GATAAGTA
G
G
C
C
G
G
G
C
G
T
G
C
T
T
G
C
T
C
A
C
A
T
C
T
G
T
A
A
T
C
T
C
1550 |
REPEAT
A
G
C
A
C
T
T
T
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
G
A
G
T
T
C
G
A
1600
G
A
C
C
A
G
T
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
T
T
A
T
G
A
A
A
A
A
T
A
C
A
A
A
A
1650
A
T
T
A
G
C
T
G
G
G
C
A
T
CAT
G
G
C
C
G
A
G
G
T
G
G
G
C
G
A
A
T
C
A
G
T
T
G
A
G
G
T
C
A
G
G
A
A
T
1700 |
REPEAT
T
C
G
A
G
C
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
A
A
C
C
C
T
G
T
C
T
T
T
A
C
T
A
A
A
A
A
C
A
C
1750
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
A
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
C
A
C
T
C
G
G
G
1800 |
var(1777):[T:0.07]
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
1850
G
C
C
G
A
G
G
T
C
C
C
C
C
C
A
T
T
G
C
A
C
T
C
C
A
G
T
C
T
G
G
G
C
A
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
A
1900
G
T
C
AACAATA ATAATAA
T
AA GAAGAAGAAT AATTAAA
T
T
C
T
T
T
T
T
T
T
T
T
T
1950 |
var(1918):[G:0.05]
|
REPEAT
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
A
G
G
C
T
G
A
A
G
T
G
C
A
G
T
G
G
T
G
C
G
2000 |
NOT SCANNED
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
C
T
C
C
A
T
T
C
T
C
C
T
G
C
2050
T
T
C
A
G
C
T
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
G
C
G
C
C
C
G
C
C
A
C
C
A
C
A
C
C
C
G
G
C
2100 |
var(2098):[A:0.03]
T
A
A
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
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
T
2150
T
G
G
T
C
T
C
T
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
2200
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
A
A
C
T
G
C
G
C
C
C
A
G
C
T
GATAA CTAAATTCTC
2250
TTTA
G
A
G
TGG ATGCTGGAGG GACTGGATTG ATACTGATTC TTTAATATTG
2300 |
var(2255):[T:0.01]
|
var(2257):[A:0.09]
CCATGTGTAA AGCTCCTCT
G
T
A
A
G
A
T
A
C
G
T
A
G
C
C
A
A
T
T
T
A
A
G
C
C
T
C
A
G
C
A
2350 |
REPEAT
T
A
C
T
G
A
C
C
T
G
T
A
A
A
A
T
G
G
G
G
A
T
A
A
T
T
A
T
A
A
T
A
C
C
T
C
C
T
T
C
A
A
A
T
G
G
T
T
G
T
2400
T
G
A
G
G
G
G
A
T
T
A
G
A
T
G
A
G
A
T
A
G
T
G
T
A
T
A
T
G
A
G
G
T
A
T
T
T
G
G
C ATGCAACTTG
2450
GTATGCTTAT AATTGGTAAC AGTACACACA TTTTTCATTT GTGGGCTTAG
2500
CTGA
A
CTTTA AAATGCAAAT AGAGATTTGT TAACCATCTG CTTTGTGCCC
2550 |
var(2505):[C:0.01]
TCTTTCAG
C
C
T
G
T
C
C
C
A
A
G
C
C
A
G
A
T
G
A
T
T
T
A
C
C
A
T
T
T
T
C
C
A
C
A
G
T
G
G
T
C
C
2600 | Exon 2
T C P K P D D L P F S T V V 35
C
G
T
T
A
A
A
A
A
C
A
T
T
C
T
A
T
G
A
G
C
C
A
G
G
A
G
A
A
G
A
G
A
T
T
A
C
G
T
A
T
T
C
C
T
G
C
A
A
G
2650
P L K T F Y E P G E E I T Y S C K 52
C
C
G
G
G
C
T
A
T
G
T
G
T
C
C
C
G
A
G
G
A
G
G
G
A
T
G
A
G
A
A
A
G
T
T
T
A
T
C
T
G
C
C
C
T
C
T
C
A
C
2700
P G Y V S R G G M R K F I C P L T 69
A
G
G
A
C
T
G
T
G
G
C
C
C
A
T
C
A
A
C
A
C
T
C
T
G
A
A
A
T
G
T
A
C
A
C
GTAAG TCAGTACCTT
2750
G L W P I N T L K C T 80
CTCTCACATT CTCTTCCCTC ATTTGGATTC TGGGTATTTT GGAGGAATAA
2800
GCTACCTCGT CATGCTCAGA GTGCAGAGGG CCAGTAGATG CTGCAGAAAG
2850
CCAGGTTGGA GAGAAATGAG AAGGTCTTGG GGAGTTCTCT CTGTGCAAAG
2900
AGAGTAAGGG TAATAGGTGC TATTGATAGA AGAGGAGAAG ATCATAGCCT
2950
GAAACTAGGG TAGGTTTAAA AATGAGATCT GGTGTGGCAA AAGGAGAAAG
3000
AAACACTACA GAAGTTAAAA GAACAGTGGA GAGGCTTTGA AATGTCAACT
3050
GATGCCAAAG AGACATTTGG AAAAACAAAA TTTGGGGAAT CATCATATCT
3100
TTGGACTTCA CCTGAAAATG AAA
G
CGGACT TAATAGTTAC TGAAATGAAT
3150 |
var(3124):[A:0.05]
ACAAATTTCA TCTACATTAT GTATATATTA TATTATAATG AAATACAAGA
3200
AAAGAGGTCA AATTAAAATA ATAATATAAC GTAAAATATA TCAATCTCAC
3250
TATGGCTTTA CTGTAAATGG TTGCTTTTAT TTATTTCTTA GAACATGGTT
3300
CTATGATATC ATGCTAGCAT TATTCTTTAC AGTCAAGTAT TATGCAATCA
3350
ACCAGATTGA ATTTATGGTA CATTTAATTA TATGTAGAAG TTAAGCAGTA
3400
AAAATAGATG TATGGATCTG GTGATTTTGG TTATATGAAC AGGACCTTTG
3450
TCAAAGTTAT GCATGTTCA
T
GCAAGTTGAT TTTACTATGC TTTTTTGCTT
3500 |
var(3470):[C:0.03]
AAAGAGCCTA AACATAATTT TTAGTAAAAA GCCAATGTAA CATCATTAGG
3550
GAAAATTTTT CTTTAAATCA G
G
G
C
C
A
G
G
T
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
3600 |
REPEAT
C
C
C
A
G
C
G
C
T
T
T
G
G
G
A
A
C
C
T
A
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
3650 |
var(3634):[G:0.31]
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
G
C
A
T
G
G
T
G
A
A
A
C
C
T
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
A
A
3700 |
var(3690):[T:0.09]
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
C
T
G
G
C
A
T
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
3750 |
var(3719):[G:0.09]
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
T
A
G
T
G
A
G
C
T
G
A
G
3800
A
T
T
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
G
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
3850 |
var(3819):[G:0.05]
|
var(3835):[G:0.04]
A
A
A
A
A
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
A
TAAA AATCAGCTAT AACTCTGGAA
3900
CACTAAAAA
T
TTCATTTTTT TATTTTCCAT GCATATCTTT TTGCATTACT
3950 |
var(3910):[C:0.03]
GCAGAGAGCA GG
T
A
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
C
T
G
T
T
T
T
C
A
T
C
A
G
C
A
T
A
T
C
A
T
4000 |
REPEAT
A
A
A
A
A
T
T
G
T
A
T
C
T
C
C
A
C
A
T
A
T
T
T
C
A
C
A
A
T
T
C
A
T
A
T
T
T
T
A
T
T
G
G
C
T
A
C
A
T
A
4050 |
NOT SCANNED
A
T
A
G
T
T
C
A
A
C
T
T
T
T
G
A
T
T
T
A
C
C
A
T
G
A
T
T
A
A
T
T
A
A
A
A
C
A
G
T
C
C
C
C
T
G
A
T
G
A
4100
A
C
C
C
T
T
A
G
A
C
T
A
T
C
C
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
G
A
G
A
C
G
G
A
G
T
C
T
C
A
C
T
4150 |
REPEAT
C
T
A
T
T
G
C
C
C
A
G
T
G
C
A
G
T
G
G
T
G
C
C
A
T
C
T
T
G
G
C
A
C
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
4200
C
A
A
G
C
T
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
A
T
C
C
A
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
C
4250
C
A
C
C
A
T
C
A
T
G
C
C
C
A
G
C
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
G
G
G
T
T
T
C
A
4300 |
var(4252):[G:0.17]
C
C
A
T
G
T
T
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
T
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
C
T
C
C
T
4350
C
T
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
T
C
C
C
C
G
C
C
T
4400 |
REPEAT
G
T
C
C
A
A
A
T
T
C
T
G
T
T
A
T
T
A
G
G
A
G
A
A
A
C
A
G
T
A
T
A
A
T
G
A
A
C
G
C
T
T
T
T
G
T
A
C
A
T
4450
A
T
A
T
C
A
C
T
T
G
T
C
T
T
A
T
T
T
T
G
A
A
T
T
G
C
T
T
T
C
T
T
A
G
A
A
T
A
G
T
T
A
C
C
A
G
T
A
A
A
4500
G
T
T
A
T
T
G
A
A
C
C
A
A
A
G
G
A
T
G
A
A
A
A
T
GAATTT ATATGTTTCA TTTAATGAAA
4550
AATTCTATAA ATAGAAATTT ACCTGTTTAT GTTTTTTTT
T
AGCCCAAAGA
4600 |
var(4590):[:0.04]
AAAGTAACAT TTTTTATCTT TGTATCACAG
C
C
A
G
A
G
T
A
T
G
T
C
C
T
T
T
T
G
C
T
4650 | Exon 3
P R V C P F A 87
G
G
A
A
T
C
T
T
A
G
A
A
A
A
T
G
G
A
G
C
C
G
T
A
C
G
C
T
A
T
A
C
G
A
C
T
T
T
T
G
A
A
T
A
T
C
C
C
A
A
4700
G I L E N G A V R Y T T F E Y P N 104
C
A
C
G
A
T
C
A
G
T
T
T
T
T
C
T
T
G
T
A
A
C
A
C
T
G
G
GTA AGAACTTTCA TGGAACTAAG
4750 |
var(4709):[A:0.01]
T I S F S C N T G 113
CAGTTAACAG ACTGAGCACA TTTTTGTATC CTTAAGCTAA ACATCAAGAC
4800
TGGTCTATAT TTTGTTTTCA GCCTTTAGGT TGGACTTTCA AATGCAAATC
4850
GATTTTAGTC CTGC
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
G
C
T
C
T
G
T
C
G
4900 |
REPEAT
|
var(4886):[C:0.01]
|
var(4891):[G:0.08]
|
var(4892):[T:0.08]
|
var(4900):[T:0.02]
C
C
C
A
G
G
C
T
G
G
A
G
C
G
C
A
G
T
G
G
T
G
C
A
G
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
A
C
C
T
4950 |
var(4922):[T:0.02]
C
C
T
G
G
G
T
T
C
A
C
A
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
5000
C
T
G
G
C
G
C
C
C
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
T
G
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
C
5050 |
var(5011):[A:0.02]
G
G
G
G
T
T
T
C
A
C
T
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
T
G
T
A
G
C
A
T
T
G
A
G
G
G
T
G
G
G
G
T
5100 |
NOT SCANNED
A
A
G
G
A
T
T
G
G
A
G
A
A
T
A
T
A
A
C
A
A
C
T
A
G
T
G
C
A
A
T
A
C
G
T
A
G
T
C
A
C
C
A
C
T
G
T
A
T
C
5150
T
A
A
T
T
T
T
T
C
T
G
C
T
C
C
T
G
A
T
T
A
A
T
T
A
T
C
T
C
A
G
A
G
G
A
G
G
T
A
C
A
T
T
A
A
A
A
T
G
A
5200
T
T
G
A
A
C
C
T
G
G
A
T
G
A
T
A
A
T
T
C
C
A
T
A
T
G
A
T
C
T
C
T
G
G
G
C
C
A
A
A
T
C
T
T
G
G
A
T
A
G
5250
G
G
T
T
A
A
A
A
T
A
C
T
T
T
A
G
G
A
A
T
A
A
G
A
C
T
T
G
G
G
C
T
T
T
A
G
T
T
A
T
T
A
G
G
C
T
A
A
T
T
5300
T
G
A
T
T
G
A
C
C
A
A
C
C
T
G
G
T
A
G
T
C
T
C
T
A
G
A
A
G
A
G
A
A
T
T
C
T
A
T
G
G
A
G
A
A
G
G
T
T
G
5350
G
G
A
G
T
G
T
G
A
C
A
G
T
G
G
A
G
A
A
T
G
C
A
A
T
G
C
A
G
T
T
C
C
A
C
A
T
C
C
C
C
A
G
G
A
A
G
C
A
A
5400
T
C
A
C
T
T
G
T
G
G
T
G
G
G
C
A
C
A
G
G
C
T
C
A
T
C
T
G
G
G
A
G
C
A
A
A
G
G
G
A
G
G
C
A
G
T
C
A
C
T
5450
T
A
A
C
G
G
T
G
G
G
C
A
T
A
G
A
C
T
C
A
T
A
A
G
G
A
G
C
A
A
A
G
G
C
A
C
C
C
C
T
G
T
G
A
C
A
T
T
A
T
5500
T
G
A
G
A
G
C
A
C
A
T
T
G
G
C
T
A
T
C
C
A
C
T
A
G
G
G
T
A
A
G
T
T
T
C
T
A
C
T
G
G
G
A
T
T
G
G
A
G
G
5550
T
T
A
A
G
G
A
A
T
A
C
T
A
C
A
T
G
T
G
A
G
A
G
A
G
A
A
A
T
A
C
A
C
A
C
C
T
T
T
C
A
T
C
T
G
A
A
A
C
A
5600
C
C
A
A
T
C
T
A
C
C
A
A
T
G
G
G
T
C
T
G
G
T
A
A
C
A
A
A
T
G
A
C
C
T
T
A
A
G
A
A
A
A
T
T
G
G
C
T
T
C
5650
G
A
A
G
A
C
A
T
A
A
T
G
T
T
A
C
A
T
T
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
C
C
T
T
T
C
T
T
T
T
5700 |
REPEAT
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
5750
A
C
C
T
C
C
A
C
C
T
C
C
T
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
C
T
T
C
C
C
A
A
G
T
A
5800
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
T
A
C
C
A
C
C
A
C
A
C
C
C
A
G
A
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
5850
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
G
A
C
T
C
C
T
G
A
5900
C
C
T
T
G
T
G
A
T
C
C
A
C
C
C
T
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
5950
G
A
G
C
C
A
C
C
A
T
G
G
C
A
T
C
C
T
G
C
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
6000
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
T
C
C
T
T
6050
T
C
C
T
T
T
C
C
T
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
6100
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
T
C
T
T
C
C
T
T
T
C
T
T
C
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
C
T
T
6150
T
C
T
T
T
C
T
T
T
C
T
C
T
T
T
C
C
C
T
C
C
C
T
C
C
C
T
T
C
C
T
T
C
C
G
T
C
T
T
T
C
T
T
T
T
C
T
T
T
T
6200 |
REPEAT
C
T
T
T
C
T
T
T
C
T
T
T
G
T
C
T
G
T
C
T
C
T
C
T
C
C
T
T
C
C
T
T
A
C
T
T
T
T
T
C
C
T
T
C
C
T
T
T
C
C
6250
T
T
C
T
T
T
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
C
A
G
G
A
T
C
T
T
C
C
T
C
T
G
6300
T
T
G
C
T
C
A
G
T
C
T
A
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
A
T
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
G
A
6350
C
C
T
C
C
C
A
G
G
T
T
A
A
A
T
C
C
T
T
T
T
G
A
A
T
C
C
T
T
C
C
T
T
C
C
A
C
C
T
C
T
A
C
C
T
C
T
C
G
A
6400
G
T
A
G
C
T
T
G
G
A
C
T
A
T
A
G
G
C
A
C
A
C
A
C
T
A
C
C
A
C
G
G
C
C
T
G
G
T
G
A
C
T
T
T
T
T
G
T
A
G
6450
A
A
A
T
T
G
G
G
C
C
T
T
T
G
C
C
A
C
A
T
T
G
C
C
C
A
G
G
C
T
C
A
A
A
C
T
C
T
T
G
G
G
C
T
C
A
A
G
T
G
6500
A
T
C
C
G
C
C
C
A
T
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
A
6550
A
G
T
A
C
C
C
A
G
T
C
AGAATGCTA TATTTTCATT GGAAATAGAC TGCATTGCTT
6600
TTATTCATTG GTGTCAGTAG GC
T
GTAAGAA AATGAATAAT GAAGATTACT
6650 |
var(6623):[C:0.33]
CAGTTTGGTT CACTTTTGTC ATCCTGAAAA AGAGATGGTT CTTTGCTTTA
6700
TATTAGAAAC AGTCATCTTG GCCAACTCTT TAAAGATGAG GGATTTAAGG
6750
GTTTGGATTC TCCACTCACC AGCTGTGGAA
C
CCTGCAGTG ATTCACCTGC
6800 |
var(6781):[A:0.02]
ATC
A
TTGGTT GGGAGGCTCC ATGAGCCATA GATGAGTACT AAGTTTGTCA
6850 |
var(6804):[G:0.01]
GGAAGACAGC
A
TTATACGAT GGAAAAGAAG TCAATAGCAT TAACATGAA
G
6900 |
var(6861):[G:0.01]
|
var(6900):[A:0.01]
CAATGCTCAA TGGAGAAGAT ATTTGAGATG TCAGTGATGG ATTATTTTAC
6950
TCCTTGATAG AATGAATTTT CCTTTTGCAG
G
T
T
T
T
A
T
C
T
G
A
A
T
G
G
C
G
C
T
G
7000 | Exon 4
F Y L N G A 119
A
T
T
C
T
G
C
C
A
A
G
T
G
C
A
C
T
G
A
G
G
A
A
G
G
A
A
A
A
T
G
G
A
G
C
C
C
G
G
A
G
C
T
T
C
C
T
G
T
C
7050
D S A K C T E E G K W S P E L P V 136
T
G
T
G
C
T
C
GTA AGTCTGTGGG C
A
A
G
G
T
G
A
T
C
A
G
C
T
G
G
T
T
T
G
C
C
C
A
G
A
A
C
C
T
7100 |
REPEAT
C A 138
T
T
C
T
G
G
T
T
T
T
A
G
C
A
C
T
C
A
A
A
G
T
C
T
C
A
C
A
T
C
T
G
G
A
A
T
C
T
C
T
T
C
A
G
T
C
A
C
A
G
7150
C
T
C
A
A
T
G
A
G
A
T
G
A
A
T
G
G
T
C
A
C
C
C
T
TGTGGG GG
A
TATTCAT CCTGGTATCT
7200 |
var(7183):[T:0.06]
TGCTCTAGAA GATGAAACAA CCACTTTGGA ATGACAGAAG GGAAGCATTT
7250
TACTCACGGA CACATTCTGT ATTCTCCACC TCGCGGTCAT TACTCTATCT
7300
AAGCCA
G
GTC ATTTCTGGGT GTGTTGACTC CA
A
TGCTCTC ATAGTGCTTT
7350 |
var(7307):[:0.99]
|
var(7333):[G:0.07]
GGAAGTGGCT TGGATATGTG TGGCATTGGT
A
TATCAGGGA CTG
T
C
ACCAC
7400 |
var(7381):[C:0.12]
|
var(7394):[:0.59]
|
var(7395):[A:0.07]
TTAACTAGAG GAACTTCTGC AAACAGTGAG ATCAAACAAA CATCTTCCTC
7450
CCACTCTGGA ATTCATTCAT TCATTT
A
T
T
A
A
C
T
T
A
T
T
C
A
A
T
A
A
A
C
A
T
G
A
A
7500 |
REPEAT
T
T
G
A
G
G
A
T
C
T
A
C
T
G
T
A
T
G
C
T
G
G
A
T
C
C
T
C
T
T
G
T
T
A
G
C
A
C
T
G
A
G
G
C
T
G
C
A
A
G
7550
G
C
C
A
A
A
G
G
A
G
G
C
A
G
C
T
T
T
G
C
C
T
T
C
A
G
A
G
A
G
TAAGCCTAGT GACTTACGGG
7600
ACAGACGAGG AGGAAAGTCA CCCTCACAGT AAGCCAACAG CCCATCAAAG
7650
GGGCTTGCAT CCTAGGA
G
CT GA
T
TGG
C
ATT CCTCCAAAAA GCACTGTTGT
7700 |
var(7668):[A:0.01]
|
var(7673):[C:0.01]
|
var(7677):[T:0.05]
TTTTTCAGAG GATCCTCAGC CAAGCTGTCA GAGTCATCTC TGGGCTTTGC
7750
TTATGTAGGG AAGGACGTTC TTATGTTCCC CAACTTGTGA TTTATACATC
7800
TTTGACCAGG AGGCCCAGGC ATTTCAATAC TAATTATAGT TCTTCAACAT
7850
GTCAGTGA
A
G TCTGTCTTTA GCAAAAGCAA GAGGA
G
G
G
C
A
G
G
T
G
C
A
G
T
G
G
7900 |
var(7859):[G:0.35]
|
REPEAT
T
T
C
A
C
G
C
C
T
G
T
A
A
T
G
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
T
C
C
G
A
G
G
A
G
G
G
T
G
G
C
T
C
A
C
C
7950 |
var(7906):[A:0.01]
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
T
C
C
G
T
C
T
8000 |
var(7976):[A:0.06]
C
T
A
C
T
A
A
A
A
A
T
A
T
A
A
A
A
T
C
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
C
T
A
A
T
C
C
8050
C
A
G
C
C
A
A
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
A
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
8100
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
C
A
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
8150
G
A
G
T
G
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GC AAGTGGAAAG
8200
TAAAGCAATT TCAAATAAAT AATTGTTTAA GAA
G
ACCTGA ACAAGCAAAA
8250 |
var(8234):[A:0.13]
ACGAAAGTTT TTAAAG
G
ACA AATTAAGTAA AATTTTCACT CAGCAGTAGG
8300 |
var(8267):[T:0.34]
AATCACGATG GTTCCTACAG TTTTCACTTA AAACAGATTT ATACCGATTA
8350
TGTAAATTTG C
T
T
C
T
T
T
A
T
T
T
A
G
A
G
G
T
A
G
G
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
8400 |
REPEAT
C
C
G
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
A
C
A
G
C
T
C
A
C
T
G
T
A
A
C
T
T
C
G
A
T
C
T
C
C
T
G
G
G
8450 |
var(8415):[C:0.40]
G
C
C
A
A
G
T
G
A
T
C
C
T
C
T
C
A
G
T
C
T
C
C
T
G
A
G
C
A
G
C
T
G
A
G
A
C
T
A
T
A
G
A
T
G
A
G
C
G
C
8500
C
A
C
C
A
G
A
T
C
T
G
G
C
T
A
G
T
T
T
T
T
A
A
A
A
A
T
T
T
T
G
G
T
G
G
A
G
A
C
A
G
G
G
T
C
T
T
G
C
T
8550
C
T
G
T
T
G
C
C
C
A
G
A
C
T
G
G
T
C
T
T
G
A
A
C
T
C
T
T
G
G
T
T
T
C
A
A
G
C
A
A
C
C
T
T
A
C
C
T
G
C
8600
C
T
C
A
G
C
C
T
C
T
C
A
G
G
G
C
T
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
A
C
C
A
C
G
G
T
G
C
C
T
A
G
C
8650 |
var(8609):[T:0.01]
|
var(8640):[T:0.01]
C
ATAAACTCA CTTTCCAAAA GGGTTGTAAA TAGAAAGACT GCTTGAGCTT
8700
TAATCTAATT TAAATGAGTA T
T
T
C
T
C
A
T
A
C
T
T
G
A
A
T
G
C
A
C
A
T
A
T
G
A
G
T
C
T
8750 |
REPEAT
|
var(8749):[T:0.01]
C
C
T
G
G
G
C
A
C
C
T
T
G
T
T
A
A
A
A
T
G
T
A
G
A
T
T
C
T
G
A
T
T
C
A
G
G
C
A
C
C
T
G
C
A
G
T
G
G
G
8800 |
var(8772):[C:0.05]
G
T
C
T
G
A
G
C
T
T
C
T
G
C
A
T
T
T
C
C
A
A
C
A
A
G
C
T
A
T
T
T
T
C
C
C
A
G
G
C
T
A
T
G
C
C
C
G
T
G
8850
C
T
G
C
T
A
G
C
C
C
C
T
G
G
A
C
C
A
C
A
T
T
T
T
G
A
G
C
A
G
C
A
GGGATCTA GGGAA
T
TCAA
8900 |
var(8896):[G:0.28]
GGTAAATCGC ATTTTGGTCA GCACTATCTT CTTTTATGCT AGTATAACTT
8950
GTTGAAGCTC CATAGTACTC AGGTCAGGGT GACAAGCCAC TACTATCTCT
9000
CTGGGTTCCT GAAGCTACTT GGGTAAGCTC CATCCATACC A
A
GAATCCAA
9050 |
var(9042):[G:0.07]
AAGCAGGGAG
G
TATTCAGCA GAAACAGACT GAACTGGTAA TGGAACTCAT
9100 |
var(9061):[A:0.01]
TCCCAAACTA CTATGTACCA AGTTGCTGTC ACCAGCCATT ATTTCAGGAT
9150
GGTCCCTCAG CACTGAGGGA CAAATTCTGC CTTCCAGAAG CATCTTCCAA
9200
GGTAGTATAT GAATAAAAGA TTTTATAAAA CCTAACCATT GTGTTGTTGC
9250
AAAAGGCAGT GGCAAGACTT AAATTTCCTT CATTTTTTTG GTGTTTTGAC
9300
TGGTTTGGAC ATCTGACTTG AGGGCTTCCT TCCTTCCTTC CTTCCTTCCT
9350
TCCTTCCTTC CTTCCTTCCT TCCTCCCTCC CTCCCCTCCC CTCCCCTCCT
9400
CTTTCTTTCT TTCCTTTCTT TCTTTCTTTC CTTCCTTTCT TCCCTCCCTC
9450
CCTCCCTTCT GACTTCCTTC CTTCCTTCCT TCCTTCCTTT CTTTCTCTCT
9500
CTCTCTTTCT TTCTGTC
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
C
C
T
T
C
C
T
T
C
T
9550 |
REPEAT
T
T
C
T
T
T
C
T
C
T
T
T
T
C
T
G
A
G
A
C
A
G
A
C
T
C
A
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
9600 |
var(9572):[A:0.01]
A
G
T
G
G
T
G
C
G
A
T
T
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
9650
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
T
G
G
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
A
C
A
C
A
C
A
C
C
T
C
C
9700
A
T
G
C
C
T
G
G
C
T
C
A
T
T
T
T
T
G
T
A
T
T
T
T
T
G
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
9750 |
NOT SCANNED
G
A
C
C
A
G
G
C
T
G
G
T
C
T
G
A
A
A
T
T
C
C
T
G
A
C
T
T
C
T
A
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
A
G
C
9800
C
T
C
C
C
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
G
G
C
A
G
G
T
C
A
9850
T
A
T
T
T
T
C
C
T
A
T
T
A
G
G
C
A
T
C
C
A
C
A
A
T
T
G
A
C
A
A
T
T
T
T
T
A
C
C
C
T
G
C
T
A
A
T
T
T
G
9900
A
T
C
A
G
T
T
T
G
C
A
T
T
T
T
C
T
C
A
A
G
T
T
T
A
T
C
C
T
T
A
G
G
G
T
T
T
T
T
T
T
T
T
T
C
T
T
T
C
T
9950
G
G
A
A
A
G
A
G
T
A
T
A
T
T
T
A
A
A
A
G
C
C
T
T
A
A
C
T
A
T
T
T
T
C
A
T
A
G
A
A
A
T
G
A
T
A
G
T
T
C
10000
T
T
T
A
T
T
T
T
C
C
C
A
G
C
C
A
T
C
A
T
C
T
G
C
C
C
T
C
C
A
C
C
A
T
C
C
A
T
A
C
C
T
A
C
G
T
T
T
G
C
10050 | Exon 5
P I I C P P P S I P T F A 151
A
A
C
A
C
T
T
C
G
T
G
T
T
T
A
T
A
A
G
C
C
A
T
C
A
G
C
T
G
G
A
A
A
C
A
A
T
T
C
C
C
T
C
T
A
T
C
G
G
G
10100 |
var(10059):[A:0.06]
|
var(10075):[G:0.01]
T L R V Y K P S A G N N S L Y R 167
A
C
A
C
A
G
C
A
G
T
T
T
T
T
G
A
A
T
G
T
T
T
G
C
C
A
C
A
A
C
A
T
G
C
G
A
T
G
T
T
T
G
G
A
A
A
T
G
A
T
10150
D T A V F E C L P Q H A M F G N D 184
A
C
A
A
T
T
A
C
C
T
G
C
A
C
G
A
C
A
C
A
T
G
G
A
A
A
T
T
G
G
A
C
T
A
A
A
T
T
A
C
C
A
G
A
A
T
G
C
A
G
10200
T I T C T T H G N W T K L P E C R 201
G
G
GTAAGTGC AATGATCAGA CAAAATACG
T
ATGGTAGGGC AAGATCCCAT
10250 |
var(10230):[C:0.26]
201
TTGTGAAAGG TATTGAAAAT TCTGACTATC AT
G
GAGTGTT TCCAATGA
A
C
10300 |
var(10283):[A:0.06]
|
REPEAT
T
C
A
T
T
C
A
A
C
A
G
C
T
G
T
T
T
A
T
T
G
A
G
C
A
T
C
T
A
C
C
A
T
G
T
G
C
C
A
G
G
C
A
G
T
G
T
G
C
T
10350
G
G
G
C
A
C
T
G
T
G
G
A
T
TCCCGAT GAATGAGACC TGGCTTCTGA CCCAAGGGAA
10400
TTATAAATAA T
G
C
A
A
T
T
A
A
C
T
G
T
C
T
G
G
A
G
C
T
G
C
C
T
G
G
G
A
C
A
G
C
T
T
C
C
C
A
T
10450 |
REPEAT
A
G
G
T
G
G
T
G
A
C
C
T
T
T
G
A
A
A
T
G
G
G
T
C
T
T
G
G
A
G
G
A
G
C
A
G
T
A
G
A GAATGAGGAG
10500
AAGGCATACC ACACATGGGG GAGACATGAA AGGCAGGATG TATCCATGGA
10550
CAGCTGGACA TTTCAGCGAG GCTGGTGAAG TTCTCTTCTG GGTGAAGTTC
10600
CTGGGTTAAA TTGGAGAGTC CTAGGAGATG AAGGTTAAGA CTGGGTTGCT
10650
GTCTGATTGT TACACATTTT AAAAATCTTT ACCCAAGTTT AAGAATCACA
10700
GAAATATTTG ATTTTTAAGA AATTATGAAA ATTATTTCGT CTCTAACTTG
10750
ACCTGTCATT ACTATCTTCA AGTTTGTCAG CTGCATAACA AACAGACAAA
10800
TTATAAAGTT TATCATGTGC ACAAATAG
T
T
T
G
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
G
A
10850 |
REPEAT
G
A
T
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
T
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
G
G
T
G
A
T
T
T
T
G
G
C
10900
T
T
A
C
T
G
C
C
A
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
A
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
G
T
A
G
10950
C
C
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
G
T
C
A
C
C
A
T
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
11000 |
var(10979):[T:0.30]
G
T
A
G
A
G
A
C
G
G
A
G
T
T
T
C
A
C
C
A
T
G
A
T
C
A
T
C
C
G
G
C
T
G
G
T
C
T
G
A
A
A
T
G
C
C
T
G
A
C
11050 |
var(11029):[T:0.50]
C
T
C
A
A
G
T
A
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
T
C
T
C
T
C
A
A
A
G
T
G
C
T
G
G
G
C
T
T
A
C
A
G
G
T
G
11100
T
A
A
G
C
C
A
C
T
G
C
T
C
C
T
G
G
C
C
A AGAGTTATTC TCGTGACTAT TAACTTCTCC
11150
AGTGGTAGAT ATTACAGATA TCCAGTGAAC GATTCAAAAC ATAAGTGATT
11200
TTCAGCATGG AGGAGCTACC AATAACAGTA GTAACTTGTA CCTTTC
T
G
G
G
11250 |
REPEAT
C
A
C
T
C
A
A
C
T
A
T
G
G
G
C
C
A
G
G
C
A
C
T
G
G
T
C
T
C
C
T
G
C
T
A
C
A
T
A
T
G
T
G
T
C
A
T
C
T
G
11300 |
var(11251):[T:0.04]
A
C
T
T
C
A
T
T
C
T
C
C
C
A
A
G
T
C
C
T
A
A
A
A
A
G
T
A
G
G
T
TCC
T
TTTTT TTTTCAAT
T
T
11350 |
var(11303):[C:0.30]
|
var(11335):[:0.99]
|
REPEAT
C
A
C
C
T
A
G
A
C
G
T
A
T
C
A
A
C
T
G
T
T
A
A
T
A
T
G
T
T
G
T
A
A
C
A
T
T
T
T
T
C
T
C
T
C
T
G
T
T
T
11400
C
T
C
C
A
T
A
G
A
A
A
G
A
T
C
C
C
T
T
T
T
A
T
T
T
C
C
T
G
C
A
T
C
A
T
C
T
G
A
A
A
A
T
A
A
G
T
T
G
T
11450 |
var(11424):[C:0.01]
A
T
A
T
A
T
T
A
C
G
A
T
A
C
T
T
G
C
C
C
A
T
A
A
A
G
C
C
T
T
C
A
G
C
C
T
G
A
A
T
A
T
A
C
T
A
A
G
A
A
11500 |
var(11477):[A:0.50]
C
A
A
G
G
A
C
A
T
T
T
T
A
T
A
T
C
A
T
C
A
C
T
T
C
A
T
A
T
G
T
T
T
T
G
G
A
T
T
A
T
T
A
A
C
A
A
T
A
A
11550
T
A
A
T
C
C
A
A
A
C
C
A
T
T
C
T
A
A
T
A
A
C
A
T
A
A
C
A
A
C
A
A
C
G
A
T
A
T
C
A
T
G
C
A
A
C
A
T
T
T
11600
A
T
C
T
C
A
G
A
T
G
C
A
A
A
T
T
T
T
C
C
C
A
A
T
T
G
A
C
C
C
A
G
A
A
G
T
A
T
C
T
C
T
T
A
T
A
C
A
T
G
11650 |
var(11622):[C:0.05]
|
var(11636):[G:0.05]
A
G
T
T
T
T
G
T
T
T
T
A
T
G
C
A
G
G
A
T
C
T
A
A
T
C
A
A
G
A
A
T
C
A
C
A
C
C
T
T
T
A
A
T
T
T
A
G
T
T
11700
G
T
C
A
T
G
T
C
T
C
T
C
T
A
G
T
C
T
C
C
T
A
T
A
A
T
A
A
T
A
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
T
T
11750 |
var(11746):[:0.99]
|
REPEAT
G
A
A
A
T
G
G
T
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
C
T
G
G
T
G
C
A
A
T
T
T
11800 |
var(11789):[G:0.49]
T
G
G
C
T
C
A
C
T
G
C
A
A
C
A
T
C
T
A
C
C
T
C
C
C
A
G
G
T
T
T
G
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
11850 |
var(11820):[T:0.05]
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
A
T
A
T
A
G
G
C
A
C
C
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
11900 |
var(11890):[A:0.01]
T
T
T
T
A
T
A
A
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
A
T
T
T
C
A
C
T
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
11950 |
var(11922):[A:0.01]
T
C
A
A
A
C
T
C
C
C
G
A
A
C
T
A
A
A
A
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
C
T
G
C
T
12000
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
T
A
G
T
C
T
C
C
T
A
T
A
A
T
T
A
A
G
A
A
T
A
A
G
T
C
C
T
T
G
C
12050 |
REPEAT
C
T
C
T
T
T
T
G
T
T
G
T
C
T
T
T
C
A
T
T
G
A
C
A
T
T
T
T
T
G
A
A
G
A
G
T
A
C
A
G
G
C
T
A
G
T
T
G
T
C
12100
T
T
G
T
A
G
A
A
T
G
T
T
C
C
A
T
A
A
T
C
T
G
A
A
C
T
T
G
A
T
T
G
G
T
T
A
T
T
T
A
C
T
C
A
T
G
A
T
T
A
12150 |
NOT SCANNED
G
A
T
T
C
A
T
G
T
T
A
A
A
T
A
T
T
A
C
T
G
T
T
A
A
G
A
A
T
A
C
A
T
T
C
T
G
C
A
C
T
T
T
G
G
G
A
G
G
C
12200 |
REPEAT
C
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
T
G
G
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
12250
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
12300
G
C
G
T
G
C
G
C
C
T
G
T
A
G
T
C
T
C
A
G
C
T
G
C
T
C
A
G
G
A
G
G
T
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
12350
T
T
G
A
A
C
C
A
G
G
A
G
G
G
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
12400
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
T
G
T
G
T
C
A
A
A
A
A
A
A
A
A
A
A
A
T
A
C
A
T
T
12450 |
REPEAT
C
T
G
T
C
A
T
A
T
C
A
G
G
A
A
G
C
A
C
A
T
A
G
T
G
T
C
A
G
C
T
G
T
T
C
C
A
T
C
A
C
T
G
G
C
C
A
T
G
C
12500
T
T
A
G
T
T
T
G
A
T
A
C
T
T
A
G
T
C
A
G
T
T
G
A
G
G
G
G
T
G
C
T
A
G
A
T
C
A
C
C
T
T
T
T
G
G
T
A
A
A
12550
G
G
C
A
C
T
G
C
T
T
T
T
T
C
T
T
T
G
G
A
A
T
A
G
T
A
A
G
C
A
A
C
C
T
G
T
G
G
G
T
G
A
T
A
C
T
T
T
G
A
12600
A
A
C
C
A
T
G
T
G
A
A
T
A
T
C
C
A
C
T
G
T
T
G
G
G
C
A
G
T
C
A
T
G
G
T
A
G
A
A
T
C
C
A
A
T
G
A
T
G
A
12650 |
var(12608):[C:0.49]
T
C
C
T
T
G
A
A
T
C
T
G
T
C
A
A
T
T
A
T
G
A
C
A
T
T
G
G
A
G
G
C
T
G
A
A
A
A
A
T
G
G
T
G
A
C
T
T
T
C
12700
T
A
A
T
T
C
T
A
T
C
T
T
T
T
C
C
T
T
C
T
A
C
A
T
T
T
A
T
T
C
A
C
T
G
G
C
T
T
C
C
C
T
C
T
A
T
A
G
A
G
12750
A
A
G
A
G
C
T
T
T
C
C
C
T
C
C
A
T
C
C
A
C
C
A
T
T
T
T
T
T
A
G
T
A
T
T
A
T
T
A
T
A
G
A
C
A
C
A
T
G
G
12800 |
var(12774):[G:0.49]
A
T
T
C
T
T
A
T
T
T
T
T
T
T
T
T
T
G
A
G
T
T
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
12850 |
REPEAT
G
C
A
T
A
A
T
G
G
T
G
C
A
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
G
C
T
T
C
A
C
C
T
C
C
T
G
G
G
T
T
T
G
A
12900
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
T
A
G
C
C
T
C
C
T
G
A
G
T
G
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
A
T
G
C
12950 |
var(12948):[C:0.48]
C
A
C
C
A
C
A
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
T
G
T
C
A
T
G
T
T
G
13000
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
T
C
T
G
A
C
C
T
C
C
T
C
A
G
C
A
T
C
C
A
C
C
T
C
A
G
C
C
T
C
C
13050
C
A
A
A
G
T
G
C
C
A
G
G
A
T
G
A
C
C
G
A
A
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
T
G
G
C
C
A
C
A
T
G
A
A
T
T
13100 |
var(13060):[G:0.49]
|
REPEAT
C
T
G
T
T
T
T
A
T
T
T
A
A
T
G
T
G
T
G
G
T
A
G
A
A
C
C
A
A
A
A
T
T
G
A
G
C
C
A
A
G
C
A
G
T
C
T
G
A
C
13150 |
REPEAT
T
C
T
G
G
A
G
T
T
T
G
T
A
C
C
C
T
T
A
A
T
T
A
C
CTCCTT AAACTACCTC TGAGAATATT
13200
GTGCTCCTGG CTCCAGCCTT GCTTTCTCGC ACTGCAGCTC ATAAGGACGT
13250
GGGTTTGGGC CTCTACTGTT GAGGATCTTA AGGAGGCCAG GAAGCAGCAC
13300
CATTTTTCTT TGACGTATTT CCTGCTGGCT TCTTCCATAG TCTGAATTGA
13350
ATAACAGTAA GATTTACTAT TTTAAAGCCA AATAATGGTG TACTAAGTGT
13400
GAATGGGGGG GGGGGTTCAG TCTTTGCATT TTAATTTTAT GGTTTGTTAG
13450
AAATAGACTT TGCTTTTCTT CTTTCAAACC CACCATCTTA GACTGTGTAG
13500
AGATGAAGTT TGCAATAAAT AATACCTTAT GATTATATGT GAAAACCCAG
13550
AGAACTTAGT GAAGTCTCAT TAATTTACTT TCAAAGTGTG GTTGTTTCTT
13600
TTTTAATATC CAGGGTACCA CAGATATAAG AGGAGTGGGG ACAGAATTAA
13650
GCACAAGGTA ACTATAAATT GCATTCCAGT TACAGGAACA CACAGTGATT
13700
CAGTGGTGTG ACAGAGACAA GGATGTAACT ATTTCATGAC TATT
G
GATAG
13750 |
var(13745):[C:0.03]
CACT
A
TTTAT TACTAATATG TCT
T
ATTGAA TAAATGTTTT AG
A
A
G
T
A
A
A
A
13800 |
var(13755):[G:0.01]
|
var(13774):[C:0.14]
| Exon 6
E V K 204
T
G
C
C
C
A
T
T
C
C
C
A
T
C
A
A
G
A
C
C
A
G
A
C
A
A
T
G
G
A
T
T
T
G
T
G
A
A
C
T
A
T
C
C
T
G
C
A
A
A
13850
C P F P S R P D N G F V N Y P A K 221
A
C
C
A
A
C
A
C
T
T
T
A
T
T
A
C
A
A
G
G
A
T
A
A
A
G
C
C
A
C
A
T
T
T
G
G
C
T
G
C
C
A
T
G
A
T
G
G
A
T
13900
P T L Y Y K D K A T F G C H D G 237
A
T
T
C
T
C
T
G
G
A
T
G
G
C
C
C
G
G
A
A
G
A
A
A
T
A
G
A
A
T
G
T
A
C
C
A
A
A
C
T
G
G
G
A
A
A
C
T
G
G
13950
Y S L D G P E E I E C T K L G N W 254
T
C
T
G
C
C
A
T
G
C
C
A
A
G
T
T
G
T
A
A
A
G
GTATGGAA ATATAGGCGA GGTCCTGTAA
14000
S A M P S C K 261
GATCTCTGAA TTGATACAGT GGATCACCTT TACTTGCTAT TTTCTTGTTC
14050
CAACACTTTT CCACTTGTTG CTCAGACTTG CTAGGAAACT GCTGGCATGT
14100
GACTTCAGGA CTCACAGGTG CATGGGGAAG CCTCATGCTT AGGAAGTATC
14150
CTTGACCTTA AACAGTATGA AATAAACAGA TCCTTTGTAA GCATTGGTGA
14200
TATGG
T
GGGA GATCATGTGG GCTTTCTTTA T
T
TGCTTTTA AGTCTTTGCC
14250 |
var(14206):[G:0.01]
|
var(14232):[C:0.01]
TCTGAGCACT C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
14300 |
REPEAT
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
C
A
C
C
T
C
T
G
C
C
T
C
C
14350
C
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
A
C
C
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
14400 |
var(14383):[T:0.01]
G
G
C
A
C
C
C
C
A
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
A
T
A
G
A
G
A
T
G
G
14450 |
var(14413):[T:0.03]
G
G
C
T
T
T
G
C
C
A
C
G
T
T
G
G
C
C
A
G
G
C
T
A
A
T
T
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
14500
C
C
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
TGT AGAGAAGAGC TTTTCTTCCA TCC
A
TCATTT
14550 |
var(14502):[T:0.01]
|
var(14512):[A:0.40]
|
var(14544):[G:0.01]
TTTAGTATTA TTGTAGACAC ATGGAG
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
14600 |
REPEAT
A
G
T
C
T
C
A
C
T
C
T
G
T
T
G
C
C
T
A
G
C
T
G
G
A
G
T
G
T
A
A
T
G
G
T
G
G
A
A
T
C
T
C
A
G
T
T
C
C
C
14650 |
var(14636):[A:0.30]
T
G
C
A
A
C
C
T
T
C
A
C
C
T
C
C
C
A
G
G
T
T
C
G
A
G
T
G
A
T
T
ACAGATGTG AGCCACCATG
14700 |
var(14657):[T:0.47]
CCCA
C
CCCTT TTTGTGCTCT GTCTAGCCAA GGCTCTTCTC ATTGCAAAAA
14750 |
var(14705):[A:0.07]
CCAACCACAC ATTCGAGTGA GTTCAAGGAA ATTGGGGATA TTATAAGGAG
14800
GCAACAGGCA AGTCGATCAT GTGGGCATTG AAGATGAAGA CATGAAATAC
14850
AACTGATACT CCTGAAGATT GGAACTGAAA GGCAGGAACT ATTCCTACTT
14900
TTTC
C
GTATC TCAATGGTCT CTCCCATTTC CGTCTCTCTG CTTATTCATC
14950 |
var(14905):[T:0.20]
TTGAACATGG CTTGATATAC ACCAGACCCT CTCAGTTACA GGATTCATCA
15000
CCAACTGGCA TCTTTCCTGG AGACACTGGT TCCTTTTGAG TTAGGTGTCT
15050
ACCCTTGATC CCATCAGTGT CATGCATAAG TAAAGAACAA CAACAGCCTA
15100
GCATTAGAAC TCTGCTCAGG TCACTATGGG CTGGACAGTT TAAGCAGAAA
15150
GAGGAACTCT GGGGCAGCAG GCAAGATGAC AAATAACTAG CA
T
C
T
T
A
G
G
T
15200 |
REPEAT
T
A
C
A
G
T
T
C
C
C
T
A
G
A
A
G
C
A
G
A
G
C
C
T
G
A
G
A
C
G
G
G
G
A
T
T
C
G
A
G
T
A
C
A
G
T
T
G
A
T
15250
T
T
A
G
T
G
A
A
T
G
T
C
T
C
A
G
G
A
G
A
A
G
A
A
A
G
A
G
T
G
A
G
G
C
A
G
A
T
T
T
G
C
G
A
G
G
G
T
A
A
15300
G
G
C
A
CC
G
G
T
T
C
T
C
A
A
A
C
T
T
C
G
C
T
G
T
G
G
A
T
C
A
G
C
A
A
C
A
C
C
T
G
G
A
A
G
G
C
T
T
G
15350 |
REPEAT
|
var(15320):[T:0.15]
T
T
T
T
A
A
C
A
C
A
G
G
A
T
T
T
T
T
G
A
G
C
T
C
C
A
C
T
C
T
T
A
G
A
G
T
T
T
C
T
G
A
T
T
T
G
G
T
A
G
15400
A
T
C
T
G
G
G
A
T
G
G
G
G
C
C
T
G
A
C
A
A
T
T
T
G
C
A
T
T
T
A
T
G
C
C
A
G
G
T
T
C
C
C
T
G
G
T
G
A
T
15450
G
C
T
A
A
T
G
C
T
G
C
C
G
A
G
C
C
A
G
G
G
A
G
A
A
A
T
G
T
G
G
T
C
T
C
T
G
C
T
A
A
A
A
T
G
A
G
G
T
T
15500 |
REPEAT
C
A
G
T
T
T
G
A
T
C
C
C
A
C
T
G
G
G
A
G
C
T
C
T
G
G
A
G
T
G
T
G
A
A
T
T
C
C
A
C
C
C
T
T
G
A
G
T
T
A
15550
A
T
C
C
C
A
C
T
A
A
G
A
G
C
C
A
A
G
G
G
G
A
C
C
T
G
C
T
T
T
T
T
A
T
A
T
T
C
C
C
T
C
A
T
C
A
G
T
C
A
15600
G
T
C
T
T
T
G
G
C
T
T
T
G
A
G
C
T
G
C
T
C
C
C
T
T
C
C
C
T
G
A
C
C
C
T
G
G
G
G
G
T
G
G
T
T
T
G
C
A
T
15650
A
A
A
C
T
C
C
T
G
G
G
A
G
A
G
G
T
G
G
C
T
T
C
C
C
T
A
T
G
G
C
T
G
A
A
G
G
C
A
A
T
T
T
T
T
C
A
G
A
G
15700
T
A
T
T
T
A
T
G
A
G
C
T
G
T
T
A
T
C
A
G
C
C
A
A
C
A
C
T
C
A
C
A
A
T
G
G
C
T
G
G
T
G
G
A
T
A
G
A
T
G
15750 |
var(15741):[C:0.01]
C
A
C
C
T
G
C
T
T
A
A
T
G
A
A
T
G
C
A
A
T
C
T
G
A
G
A
G
G
G
C
A
GAGTAGGC TTACATGAAA
15800
TGTCAATATC TGTTAGTTGC TTTTTTTTTT TTTTTTCACT GAAATGGAGG
15850
CTCTGATGCT TCTGTTCTGA CCTTCTGTGG CTACTGTAGG GGAAGAGAAG
15900
GCCATCTTGG AAGCTATGAA TAATGGTTCT ATTGACAGAG AACTGCAATT
15950
AGCAATCATA TTACCATTAC TTACTATATA TATT
C
TTGGA TTTTTCTTGC
16000 |
var(15985):[T:0.05]
CTTGACCAAT TTGTGTAGGT GTACTCATCT ACTGTTTCAA ATGCTATACT
16050
CTCTTTCAGA AAGACTTCCT GAACTCTTAA GTCCTGATTA CAAGTATTCT
16100
CTCTTTCAG
C
A
T
C
T
T
G
T
A
A
A
G
T
A
C
C
T
G
T
G
A
A
A
A
A
A
G
C
C
A
C
T
G
T
G
G
T
G
T
A
C
16150 | Exon 7 |
var(16121):[T:0.39]
A S C K V P V K K A T V V Y 275
C
A
A
G
G
A
G
A
G
A
G
A
G
T
A
A
A
G
A
T
T
C
A
G
G
A
A
A
A
A
T
T
T
A
A
G
A
A
T
G
G
A
A
T
G
C
T
A
C
A
16200
Q G E R V K I Q E K F K N G M L H 292
T
G
G
T
G
A
T
A
A
A
G
T
T
T
C
T
T
T
C
T
T
C
T
G
C
A
A
A
A
A
T
A
A
G
G
A
A
A
A
G
A
A
G
T
G
T
A
G
C
T
16250
G D K V S F F C K N K E K K C S 308
A
T
A
C
A
G
A
G
G
A
T
G
C
T
C
A
G
T
G
T
A
T
A
G
A
T
G
G
C
A
C
T
A
T
C
G
A
A
G
T
C
C
C
C
A
A
A
T
G
C
16300
Y T E D A Q C I D G T I E V P K C 325
T
T
C
A
A
G
G
GTA AGTCTGCATT GGAACGTTTA GCTAGGACTC CCACTTGCC
C
16350 |
var(16350):[T:0.14]
F K 327
GTCATCATAA TCAGAGCCTT TGTTCTATAA TGATTGTCAA AAACCAGATG
16400
A
G
G
C
C
A
G
G
T
G
C
G
G
T
G
G
G
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
G
G
A
G
G
C
T
G
16450 |
REPEAT
|
var(16411):[A:0.01]
|
var(16412):[A:0.01]
|
var(16422):[A:0.01]
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
G
C
A
G
C
C
T
G
G
C
C
A
A
A
A
16500 |
var(16475):[C:0.34]
A
G
G
T
G
A
A
A
G
T
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
A
T
T
G
C
T
G
T
G
G
T
G
C
16550
C
G
G
G
T
G
C
C
T
G
T
A
A
T
C
G
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
C
A
T
C
A
C
T
16600 |
var(16552):[A:0.01]
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
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
16650
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
G
A
A
A
C
T
C
C
G
T
C
T
C
A
A
A
A
C
A
A
A
A
A
C
A
A
A
C
A
A
A
16700
A
CACAGATGA ATTTGGCCAC TGGGTTTTTA AAAAGAGGGG TGAGAGGGAG
16750
AAACAATGAT ATGAAGCAGT GAGCTGCAGA TGGCGTCCCC ACTTGCATTT
16800
TCCTTTCCAA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
A
G
G
T
C
T
C
A
C
T
G
T
C
A
C
C
C
A
G
G
16850 |
REPEAT
C
T
G
A
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
A
C
A
T
C
T
C
A
T
T
G
C
A
G
C
C
T
C
T
A
C
T
T
T
C
T
G
G
G
16900 |
var(16864):[T:0.33]
C
T
C
A
A
G
T
G
A
C
C
C
T
T
T
C
A
C
C
T
C
A
G
C
C
T
T
C
T
G
A
G
T
A
G
C
T
G
A
G
A
T
T
A
C
A
T
G
C
A
16950
C
G
C
A
C
C
A
C
C
A
T
G
T
C
C
A
G
C
T
A
T
T
T
T
T
T
A
T
A
T
T
T
T
T
A
T
T
A
G
A
G
A
A
G
A
G
A
T
T
A
17000
T
G
C
C
A
T
G
T
T
G
C
C
A
A
G
G
C
T
G
G
T
T
T
T
G
A
A
C
C
C
T
T
G
G
A
C
T
C
A
A
G
C
A
A
T
C
C
A
C
C
17050 |
var(17002):[A:0.05]
T
G
T
C
T
C
A
G
T
C
T
C
C
C
A
A
A
G
T
G
C
C
A
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
T
A
C
G
C
G
C
C
C
A
17100
G
C
C
TCTTTTC TAAGTCTTTT CTGTAAAACT CAGGGTTGTG GTTATATTCA
17150
ATGAATGCTG AGGTGAATGA TGCCATCTTG TATAATTCCA AG
T
TGAGCTT
17200 |
var(17193):[G:0.15]
GAATAATAAT GAACCAAATA TTGAATAATA AAATATCTAC CTCATCTTGG
17250
TCCCACATTA TAGAGAACTC ACCCCAAGTG ACAAAACAAC TCATGGCAAT
17300
GATAATTGGT CTAAAGA
T
CT AACATTTCCC CTTTCTC
C
AG CAATTCGTAG
17350 |
var(17318):[G:0.03]
|
var(17338):[A:0.35]
AGTTTGAAAA GTATCCATTA GAGCAAAGTA TCCATTAGAG CAAAATATTT
17400
TAAGGAGAAT GATACCAGGT TTGTGTGAGA TAAAGAAGTG TGTAATGGCC
17450
AGCGTTTAGA GCTGCTAACC TTTTAAGGTT TCAGATTTAG GGTTGAAAT
G
17500 |
var(17500):[A:0.06]
TCTCTGATGC CAGAAAGTAA GAACCAGCCA GAGGCTGAAG CTGTCCTTGG
17550
CTCTAGGTTT AGAAATCTTT CAAAAACATT GACAATCTTG TTTTAGCAG
C
17600 |
var(17600):[G:0.36]
TGGGAGAGGA CAGTAGGGAG CAGACAAAGC TAAGAAGAGA GGAGTCTGAG
17650
AAGTGTCCAG CTAGTGGGAG AGAAGGGAAT GATAACTGAT TAAAAATACC
17700
CACCTCATGG GGTTGGTTTG ATTATTAGAA ATATGCATGA CATGGAGGAA
17750
TATAATTTTA ATTGTAAATA GTTACAAATG CACTGAATAA ATTGCCATTA
17800
TTCAAAAGAC AGCAGAGCCC TGGTGAGATG TTAAATACAA AACATGACAA
17850
AATACAATAA GCTTAAATAA AAATCAGTAG AAAAAATGTG AGAAAAGAAT
17900
AATTGAAAAA AGTCTTAGCT TTGTTGATAT ATTTCTTCAG GATCTTCTCC
17950
CTTATGGTCT TTGGACAGAT GCAGTACTGT AAAGGGCCGA TACTGTTTTT
18000
TCCCCTTTAA TCTTGACTGT TATAGAACAG TCTTCACTGT ATATAGAACC
18050
TTTAATTTTA TCTCTTGAAA ATGAGGATCT T
G
G
C
C
A
G
G
C
G
C
A
G
T
G
G
C
T
C
A
18100 |
REPEAT
C
A
C
T
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
A
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
T
T
G
A
G
18150 |
var(18129):[T:0.01]
G
T
C
A
G
G
A
G
G
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
A
G
T
C
T
C
T
A
C
T
A
A
A
A
A
18200
T
A
C
A
A
A
G
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
A
C
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
18250 |
var(18224):[T:0.23]
G
G
G
A
G
G
C
T
G
A
G
A
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
A
G
A
G
G
T
T
G
C
A
G
18300 |
var(18251):[A:0.01]
T
G
A
G
C
T
G
A
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
A
C
C
T
G
G
G
C
A
A
C
A
G
G
G
C
G
A
G
A
C
T
18350 |
var(18345):[A:0.01]
C
T
G
T
C
T
T
A
A
A
A
A
A
A
G
G
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
ATG AGGGTCTTAT
18400 |
var(18355):[T:0.03]
CATTTCCCTA ATGTTTTCTC CCATCACTTA AACCTCACAC TAAATGGTTT
18450
CATTCACATA ATCACATGTA TTCTATATAC T
T
GT
A
AAATG TATTTGGTTT
18500 |
var(18482):[C:0.32]
|
var(18485):[G:0.03]
GGCTTAGCTA TTTACCACAT TTAAGAAATG A
T
TGTTTC
T
C TTAGAATGTT
18550 |
var(18532):[C:0.01]
|
var(18539):[:0.07]
TATCTTTTTC TCCCCCAACA G
A
A
C
A
C
A
G
T
T
C
T
C
T
G
G
C
T
T
T
T
T
G
G
A
A
A
A
C
T
18600 | Exon 8 |
var(18593):[C:0.01]
E H S S L A F W K T 337
G
A
T
G
C
A
T
C
C
G
A
T
G
T
A
A
A
G
C
C
A
T
G
C
T
A
A
G
G
T
G
G
T
T
T
T
C
A
G
A
T
T
C
C
A
C
A
T
A
A
18650 |
UTR
|
var(18648):[C:0.33]
D A S D V K P C 345
A
A
T
G
T
C
A
C
A
C
T
T
G
T
T
T
C
T
T
G
T
T
C
A
T
C
C
A
A
G
G
A
A
C
C
T
A
A
T
T
G
A
A
A
T
T
T
A
A
A
18700 |
var(18689):[C:0.01]
A
A
T
A
A
A
G
C
T
A
C
T
G
A
A
T
T
T
A
T
T
G
C
C
G
C
A
CCC ATTGCAGTGT TAGCTTCATG
18750
GTAGCTTACT TTTAGTTATG TCATTTGGTT AAGAAATGCA AATATTTGGA
18800
ACGTCATCAT TCTATGGCTG TGAAGTTGGC AGTATAAACA ATTGTCTGGG
18850
TGTCCCACTT TTCCTGTGCG TAACCCTGAT CTC
G
G
C
T
G
G
G
T
G
C
G
G
T
G
G
C
T
18900 |
REPEAT
C
A
C
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
A
G
A
A
G
C
A
G
G
T
G
G
A
T
C
A
C
C
T
G
18950 |
var(18904):[A:0.02]
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
G
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
G
T
19000
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
A
T
G
T
G
G
G
C
C
T
G
T
A
A
T
C
C
C
19050 |
var(19027):[G:0.02]
A
G
C
T
A
C
T
C
G
G
G
A
G
A
C
T
G
A
G
G
T
A
A
G
A
A
A
A
T
T
G
C
T
T
G
A
A
T
C
T
G
G
G
A
G
G
T
G
G
A
19100
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
G
G
T
G
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
G
G
C
G
A
T
A
G
A
19150
G
T
G
A
G
A
C
T
G
C
A
T
C
T
C
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
C
A
A
A
C
A
A
A
C
A
A
A
C
AAAC
19200 |
var(19196):[G:0.01]
AAACAAATCC TACTTTCAAG CACTTTCACG TAAAACACCT GCAATACAAT
19250
ATTTTTCATA GAATGGGCCA CAGACCCCCT CCTTCCGTTA CTATTACCTA
19300
TCTGCTTATT TCAAAGAACA AGTGTTGTG
C
C
C
C
A
G
A
A
T
T
G
T
T
A
A
G
A
A
T
G
G
19350 |
REPEAT
C
C
C
A
G
A
G
T
T
C
T
G
C
A
T
T
T
A
T
G
A
C
A
A
A
G
T
T
T
C
C
A
G
A
T
A
G
T
T
C
T
T
G
C
G
C
A
T
C
C
19400 |
var(19394):[T:0.04]
T
C
A
A
G
T
T
T
G
A
G
A
A
G
C
A
T
T
G
C CATACAGAAG TAAGCATGGA CTTCCAGGTC
19450
AATAGGACTG AATTTGCATC CTTGATGCTG GGTTTACATA GTGCCAAAAA
19500
A
T
T
T
T
T
T
C
T
G
T
A
T
C
C
A
C
T
A
C
A
A
T
T
C
C
A
T
G
A
C
C
C
A
T
C
A
T
T
G
A
C
G
T
C
G
T
T
C
C
19550 |
REPEAT
T
T
T
G
C
A
T
A
T
A
T
T
C
A
A
C
T
C
C
C
T
T
G
C
T
C
T
T
C
T
C
T
C
C
T
T
T
G
G
T
A
G
T
G
T
T
T
G
C
T
19600
G
G
C
C
A
A
A
C
T
C
A
T
C
C
C
T
G
G
C
A
C
C
A
T
C
T
G
C
C
T
T
C
C
T
T
A
T
G
C
C
T
G
C
A
C
C
T
A
A
G
19650
G
A
A
C
T
G
A
A
C
G
T
G
G
C
T
G
G
A
A
A
A
A
A
A
A
G
A
G
A
A
A
C
T
C
A
C
A
A
C
C
A
T
G
C
C
A
A
T
A
G
19700 |
var(19675):[:0.57]
G
T
C
C
C
A
T
T
T
T
A
A
A
T
T
C
A
T
A
A
A
C
A
C
A
A
A
C
T
T
T
A
C
A
T
G
G
G
C
C
T
C
C
A
G
C
T
C
T
G
19750 |
var(19750):[A:0.12]
C
C
C
G
A
C
A
A
T
C
C
T
A
T
T
A
T
A
T
T
T
C
T
C
T
A
G
T
T
T
G
T
T
C
A
C
T
C
C
C
T
T
A
C
T
C
T
C
T
A
19800 |
var(19789):[T:0.01]
A
A
G
T
G
G
C
T
A
T
T
T
C
A
C
T
T
C
T
C
A
A
C
C
T
T
T
C
T
C
A
A
G
C
C
A
C
C
T
T
C
C
T
T
C
T
C
C
T
C
19850 |
var(19803):[C:0.02]
A
C
C
C
T
T
A
G
C
T
G
A
T
A
A
C
T
T
G
G
C
T
C
C
T
T
A
T
T
T
C
A
C
T
G
A
G
A
A
A
A
T
G
G
A
A
A
A
G
A
19900
T
C
A
A
A
A
G
A
T
C
A
T
T
T
T
T
T
T
T
T
A
A
T
C
T
T
T
C
C
A
C
T
C
C
C
G
A
A
T
C
C
A
T
C
A
T
T
C
T
A
19950 |
var(19936):[A:0.02]
C
C
A
G
C
A
T
C
G
G
C
A
A
C
C
A
C
A
G
A
A
T
C
T
G
C
C
T
T
C
T
G
T
C
A
G
G
T
T
A
C
A
A
T
G
G
A
T
G
A
20000
A
C
A
T
C
T
A
A
G
G
A
C
A
A
A
C
C
C
C
T
C
T
C
T
T
T
A
T
G
T
G
C
T
A
G
G
T
C
C
C
A
T
T
T
T
C
T
C
T
C
20050 |
var(20019):[:0.63]
|
var(20022):[G:0.02]
T
C
C
T
A
C
T
T
A
A
G
G
A
T
T
T
T
A
C
T
C
C
T
C
T
A
A
T
T
A
A
T
G
C
T
T
A
T
C
C
A
T
G
T
T
T
A
T
T
T
20100
T
T
T
C
C
T
T
T
C
T
A
T
T
G
G
A
A
C
A
C
T
T
C
A
A
T
C
A
G
C
A
T
A
C
A
G
A
T
A
T
A
C
A
G
T
A
A
T
A
T
20150 |
var(20112):[C:0.05]
C
A
C
C
C
A
T
T
A
A
A
A
A
A
A
G
A
A
G
C
C
C
T
G
T
T
A
C
T
T
C
A
C
A
T
C
T
T
T
C
T
T
C
C
A
G
C
T
A
C
20200 |
var(20157):[G:0.14]
|
var(20184):[T:0.36]
T
G
C
T
C
C
A
A
C
T
C
T
T
T
A
G
T
C
C
C
T
G
T
T
T
T
T
A
C
A
A
A
A
G
T
C
C
T
G
G
A
G
T
T
A
T
T
T
CC
20250 |
var(20246):[C:0.08]
T
C
TGCCATCT GCACTAGGTA CTACCCATCA CTTCTCCACA ATCTGCATT