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