CFH 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
T
C
C
A
G
A
A
G
A
G
A
C
C
T
A
C
A
A
G
T
G
A
G
G
A
G
A
C
G
G
A
G
A
G
G
C
A
A
G
C
C
G
A
C
A
A
A
C
A
G
50 |
REPEAT
G
C
C
T
G
C
G
A
T
G
G
C
A
G
A
A
T
G
A
C
A
C
A
G
C
A
G
A
G
A
A
A
G
A
G
A
G
G
A
G
G
G
A
C
A
T
C
T
G
G
100
A
C
T
C
C
G
A
G
G
G
G
A
G
T
T
T
G
G
C
C
A
G
G
G
A
C
G
G
G
T
G
G
A
G
A
A
G
A
G
T
C
T
G
G
C
C
A
C
T
G
150 |
var(127):[A:0.12]
G
G
A
G
G
C
C
T
G
A
C
A
C
T
G
G
G
C
G
A
A
G
G
T
C
A
C
C
T
T
C
C
C
A
C
T
C
C
A
T
C
T
T
G
C
T
G
A
C
A
200
G
C
C
A
C
C
T
C
C
A
C
C
A
C
T
C
A
A
T
A
A
A
A
A
G
T
T
G
C
C
C
T
C
A
T
C
C
C
T
C
G
A
G
C
C
C
C
C
G
T
250
G
T
G
A
T
C
C
G
A
T
T
C
T
T
T
T
G
G
G
A
C
A
C
T
G
G
G
C
A
A
C
A
G
C
T
G
G
G
G
A
T
A
C
A
G
A
G
G
G
C
300 |
var(293):[T:0.43]
T
A
T
T
T
C
A
C
T
G
T
C
C
C
A
C
T
A
C
C
C
A
T
G
A
G
A
T
A
A
G
G
A
A
G
A
G
G
G
T
T
T
G
T
T
G
A
G
C
T
350
G
A
T
T
A
A
C
A
C
A
T
A
A
A
C
C
A
T
T
T
G
C
A
G
A
T
G
G
C
A
A
A
G
C
T
A
A
A
G
G
A
G
C
A
C
A
C
T
G
T
400
A
A
C
A
T
A
C
G
C
C
C
A
C
T
T
G
G
G
C
T
T
C
G
G
A
A
A
T
C
G
C
A
G
A
C
A
C
C
C
A
C
C
C
C
T
A
G
A
T
G
450
C
T
G
C
T
G
T
G
A
G
G
C
C
A
G
A
G
C
C
C
G
A
A
A
G
C
G
C
T
C
A
C
T
C
C
G
G
T
T
C
C
C
G
C
A
C
C
G
G
T
500 |
var(498):[T:0.37]
G
C
A
T
C
T
G
T
G
T
G
C
T
C
C
C
C
C
T
C
C
C
C
G
T
A
A
G
G
G
G
T
T
T
G
A
G
C
T
G
C
A
G
G
G
C
G
A
C
C
550 |
var(511):[A:0.04]
T
A
A
C
T
G
G
C
A
A
G
C
C
G
C
A
C
A
C
C
T
G
T
T
G
C
A
T
G
T
C
C
T
T
C
A
A
G
G
G
G
A
A
T
C
A
G
G
G
A
600
T
C
T
C
T
C
A
C
A
T
T
T
C
A
A
T
T
A
G
T
C
A
T
C
A
G
G
A
A
A
A
T
T
C
A
T
A
T
T
A
T
A
A
C
C
A
C
G
G
A
650 |
REPEAT
G
A
A
T
T
A
T
T
G
C
T
T
T
G
T
G
T
T
A
C
C
A
G
A
A
A
A
G
C
T
A
A
A
A
T
T
A
C
A
A
G
G
A
T
T
A
A
A
A
T
700
T
A
C
C
A
A
G
T
A
T
C
T
C
T
G
A
G
G
G
T
A
T
G
G
A
G
C
A
A
C
T
T
G
G
A
C
A
C
T
G
C
T
G
A
T
A
G
A
A
A
750
T
G
T
C
A
A
G
T
G
A
T
G
T
C
A
A
G
T
G
T
T
A
T
A
A
T
C
C
A
T
T
T
G
G
A
A
A
A
T
T
G
T
C
T
A
A
T
T
T
T
800
A
T
C
C
A
T
T
A
C
A
C
C
T
A
A
A
C
A
T
A
A
A
T
T
A
T
G
T
C
C
C
A
G
T
G
T
T
T
C
A
C
T
A
C
C
A
A
G
T
A
850
T
G
C
A
C
T
T
A
C
C
A
G
A
A
A
T
G
T
G
G
A
T
T
G
T
G
T
T
T
A
C
C
A
A
A
A
A
C
C
T
C
A
T
A
A
T
A
T
A
A
900
G
G
C
C
C
A
T
A
G
C
A
G
C
A
C
T
A
T
T
C
A
T
A
C
C
A
G
C
T
C
C
A
A
A
C
T
A
A
A
A
T
C
T
G
C
T
C
A
A
A
950
T
G
C
T
C
A
C
T
A
A
C
A
G
G
C
A
C
A
C
A
G
A
T
A
A
A
T
A
A
A
A
T
G
T
G
A
A
C
T
A
T
T
C
A
A
A
A
A
G
T
1000
G
G
A
G
T
A
T
T
A
A
A
T
C
G
C
A
A
T
A
A
G
A
A
T
G
A
A
C
T
A
T
C
T
G
T
A
A
C
T
A
C
A
T
C
T
A
A
C
A
A
1050
T
G
T
G
T
T
T
G
A
A
T
G
G
T
C
C
A
A
A
C
A
C
A
A
T
T
T
T
T
G
G
T
G
A
A
A
A
A
C
T
C
T
A
A
A
C
A
T
A
A
1100
G
A
A
T
A
A
A
C
T
G
C
T
T
C
T
T
T
T
T
C
A
T
T
A
T
A
C
A
A
A
G
T
A
C
A
A
A
A
G
C
C
A
G
A
C
A
A
A
T
A
1150
T
A
T
T
C
C
A
T
G
T
T
C
T
T
G
A
A
G
A
T
C
A
G
A
A
T
C
G
T
G
G
T
C
T
C
T
G
T
G
T
G
T
G
G
G
G
G
G
T
G
1200
T
G
G
G
A
G
A
G
G
G
T
T
G
A
G
A
G
G
C
G
T
A
T
T
G
A
C
T
G
A
A
A
A
G
G
A
G
T
A
C
T
G
G
G
G
T
T
T
T
C
1250
T
G
G
G
A
T
G
T
A
A
T
A
A
T
G
T
T
C
A
G
T
G
T
T
T
T
G
A
C
C
T
T
G
G
T
G
G
T
G
G
T
T
T
C
A
C
A
G
G
T
1300 |
var(1262):[G:0.02]
A
T
C
T
T
T
A
C
C
T
T
C
T
C
A
A
T
A
T
C
C
A
G
C
A
T
A
T
G
A
T
T
T
A
T
G
T
T
T
T
C
C
T
T
A
T
A
C
A
T
1350
A
T
T
A
C
A
C
T
A
C
A
A
T
A
C
A
A
A
G
T
T
T
T
A
A
A
A
A
TC AGC
A
TTTCAA TTTGTTGATT
1400 |
var(1384):[T:0.01]
TTTGGATTAT TAAACCTATT TAC
G
TCAAAT GAGAGTGAGC CAGTTGCTTC
1450 |
var(1424):[T:0.04]
ATACACATAT ACAAAAAGTA TTTAGAAAAC TAATTTCA
T
A AATTGCTAGA
1500 |
var(1489):[A:0.12]
AAAGCAGACC CCCAAATTCA TCAAGCACTG CATTCTTGGC AAAGTTTGTA
1550
CACATTGTCT GGGTGCTGAT TGTGAAAACA TTGCCTAAAC CAAAGTTTTG
1600
TATGTGATTT CTTTTAAAGT TTCTCTTATT TCCTGTTCTG AGGTTTATAC
1650
ACAATAGACC CGAATAGAGT TTGAATAATT GAAGGGTTTA TGAAATCCAG
1700
AGGATAT
C
AC CAGCTGCTGA TTTGCACATA CCAAGAACAT GAACATTTTC
1750 |
var(1708):[T:0.15]
CAACGGAGAA TTTCCCTA
G
C TTAATAAGAA AAAGTCCAAG AGCCGGTCAC
1800 |
var(1769):[C:0.01]
AGCATTAACA TTTAGTGGGA GTGCAGTGAG AATTGGGTTT AAC
T
TCTGGC
1850 |
var(1844):[C:0.13]
ATTTCTGGGC TTGTGGCTTG TGGTTGATTT TTTATTTACT TTGCAAAAGT
1900
TTCTGATAGG CGGAGCATCT AGTTTCAACT T
C
C
T
T
T
T
G
C
A
G
C
A
A
G
T
T
C
T
T
1950 | Exon 1 |
UTR
T
C
C
T
G
C
A
C
T
A
A
T
C
A
C
A
A
T
T
C
T
T
G
G
A
A
G
A
G
G
A
G
A
A
C
T
G
G
A
C
G
T
T
G
T
G
A
A
C
A
2000 |
var(1960):[G:0.04]
G
A
G
T
T
A
G
C
T
G
G
T
A
A
A
T
G
T
C
C
T
C
T
T
A
A
A
A
G
A
T
C
C
A
A
A
A
A
A
T
G
A
G
A
C
T
T
C
T
A
2050 |
var(2012):[A:0.01]
M R L L 4
G
C
A
A
A
G
A
T
T
A
T
T
T
G
C
C
T
T
A
T
G
T
T
A
T
G
G
G
C
T
A
T
T
T
G
T
G
T
A
G
C
A
G
A
A
G
GTAA
2100
A K I I C L M L W A I C V A E 19
GATTAAAAGA GACTCTTTTC TGAAAACTGT ATTATGAAAC ATTTGCTAAT
2150
GATGCTTTTC ACAGGAGTAA TAAAAATTTG ATTTAGAAAA TGTGCTTAAG
2200
TATTCTGTAA CTTGACAA
T
T
G
A
G
T
G
G
C
T
T
T
T
G
A
C
A
T
T
G
T
T
G
A
G
T
T
T
A
A
A
A
2250 |
NOT SCANNED
A
A
T
G
T
A
A
G
A
A
C
C
T
T
A
T
T
T
G
A
A
T
G
G
T
A
T
A
T
C
T
A
A
A
T
A
T
T
C
A
T
C
A
T
A
A
T
T
A
T
2300
A
T
T
T
A
A
T
A
T
A
A
A
A
T
A
G
A
A
T
A
A
A
A
T
G
T
T
T
T
A
A
T
A
A
A
C
A
T
T
T
C
T
G
A
A
A
A
A
C
T
2350
A
T
G
A
T
C
T
G
G
A
A
T
A
A
T
C
A
T
T
T
C
C
C
T
T
G
T
A
A
T
T
A
T
C
A
T
A
A
A
A
T
G
T
A
A
T
T
T
A
C
2400
T
T
T
T
T
T
G
C
T
T
A
G
G
A
G
T
A
T
A
A
C
C
A
A
A
A
T
G
T
A
T
T
A
T
G
T
G
A
A
A
G
C
A
T
T
A
A
G
A
A
2450
G
G
A
T
G
T
G
A
A
T
A
T
A
C
A
T
A
G
T
C AATAAAAGCC ATCAAATCAT AATGATTAGA
2500
TTTATTTCAA ATATGATTTT AACTCTTCCT AAATAAAAAT TCATTTATCA
2550
TTTACAACTG ATATTGTCAT GACCTTAGAA TTCTTGTAGA CAAGTATTAC
2600
TTGTATTATC AGAATAAAAA TATTATATAA ATTTGAAACC CAATTGAATA
2650
TACAATATTT GTAACAGTTA AGTTG
T
TCAA TA
G
AGATTTT TTTCCTGTAG
2700 |
var(2676):[C:0.13]
|
var(2683):[A:0.03]
TTGTATATAA CATATATTCT TGAAGAGCAG TCTTTTGGAG TAGTGAATAT
2750
GAATGTAGGA GTTTTTTTCT GACCTCAGTA AGACAATTTC TGGATTCATA
2800
ATAAAATTTA ATTATATCAC TGCTTCTTGA T
A
GATTAAAA AGCTTATTCT
2850 |
var(2832):[G:0.04]
TGGAGGAGGT TTGCTTTCCT AGTTTTTGAT AGGTAACCAG TTATGTGATA
2900
GATATTTGGT AAACATTTTT AAACTGAATG AATTACATAT TATTCATAAT
2950
TTCTAAAATC TTTTCACTTA GTAAAGAAAT TTTGATTGAG TGACCATTAC
3000
ATAGCCTCTA GGAACTGAAG AATATTAGCA AATAATACAA ATCTCTGTTT
3050
CAGTCTTCCA ATCTAGAAAA TAAAAGCAGA TATATTCTTA TAGTTATACA
3100
CTTTGGTAAT TTAAAAAATA TTCAAATATG TTTAATACCT TTTGAAAGGT
3150
TGAA
T
TATTT TCAGTTATAT TTTCTAATGT TATTGCTTGT TCTTTGGCTT
3200 |
var(3155):[C:0.38]
GTAAACTTTA TATGTAGCCA CTTTTTAAAT GAAGAAAACA ATTATTTCCT
3250
TGTACATATA AATATTATAA TTAGTATTTT AAAATGAAAC
C
TTTTTGTAT
3300 |
var(3291):[G:0.02]
TTACAAACAG TTCCAGAACA ATGTCAATAT TACCTATTGT AAAAGACATC
3350
TTTTTCTGTT TCTTTGTGTA AATATTTCTG TCTTTTCTTA CTAAATTTAT
3400
GGGAATGTTT CTAACGTTTC ATACCTACAT ACTGTTTGCT CCAGTTTTAC
3450
ATAGATACCA TTTGTCATAT AAGGGAGATT TGTTTTATTT CTAATCTTTA
3500
AAATCAAGAA TCAATGGCAA GTTTAATAAA CAGTTTAAGT TATTAAAAAG
3550
TTGAATTTGA AATATTATTA AAATAGAGTA CATCAAAGTA TATGTGATAA
3600
TTAAACAATA GTGATTTAAA CATCTTATTT ACATAATTGA TTATTGCTGA
3650
CTTGTTTCAC TTTTATTTTA TTTTTCATCA ATGTGTGTTT A
A
ATGTGGTA
3700 |
var(3692):[C:0.15]
TCAGTTTCTA CTGGTGAATT GAACATCGGC ACTATATATG TTATGGTGAA
3750
AATGATATAA ATCTGATTAT TTCCTAAAAG ATAAAGCACA ACTTTGTATT
3800
TAAAGCAATG CTTAGGCCAG CCTCATAATT TTCATAAAAG CACATGTAAT
3850
GCAAAAGCCA ATGGAGAAAA ACTACATGAA TTTTCAGTGG ATATCAGACT
3900
CCTAATTTAT TCCTTGTTTC CCAAATACTC TCTGAAACTA AACTAGTTCG
3950
AGATGTCCAT CAGTTCTATT AATCTACCAT ATCTAAAAAA TTTTTACTTA
4000
ACAGAGTAGC TTTGATCATG AAAAATACTC ACATATATTT CAATATTTGC
4050
TTCTGTTTAT ATTTTCCACA TTGAATACTG AATACCAAAT TGAGAAGATA
4100
GTTTGAATA
C
T
A
T
C
A
C
A
A
T
C
T
G
C
T
T
T
A
T
T
C
A
A
C
A
G
C
A
T
A
A
C
A
T
T
T
T
A
G
C
A
4150 |
NOT SCANNED
T
T
A
C
T
T
C
T
G
C
T
C
T
G
T
T
A
A
G
A
G
T
G
A
A
C
T
T
T
C
T
T
C
A
A
A
A
A
A
A
A
C
A
C
T
A
T
T
C
A
4200
T
T
A
C
T
A
A
G
A
A
A
G
A
A
T
T
A
T
A
G
C
C
A
G
C
A
G
G
A
A
T
A
A
T
T
T
G
T
A
A
T
T
T
C
A
G
C
T
T
T
4250
C
T
A
T
T
T
G
T
T
T
T
C
T
T
T
T
T
T
T
A
A
T
A
T
A
T
T
G
G
G
T
A
C
T
A
C
A
T
A
G
A
A
C
C
T
T
T
C
T
A
4300
A
T
G
C
A
A
T
A
T
A
T
T
G
T
C
T
A
C
A
A
T
A
A
C
A
T
T
T
C
C
A
A
T
T
G
T
G
T
A
G
G
A
A
C
G
T
T
A
A
T
4350
T
G
C
C
T
C
C
T
T
G
T
T
T
T
A
A
C
A
G
T
C
T
G
G
C
T
C
A
G
G
G
G
G
T
C
A
C
T
G
C
A
G
G
C
T
A
C
T
A
A
4400
G
A
A
T
T
G
G
G
T
C
A
G
A
T
T
T
A
C
A
G
G
A
C
A
A
A
G
T
T
T
A
A
A
A
T
A
A
C
A
G
T
T
T
C
T
C
A
A
T
C
4450
G
T
A
C
C
A
C
C
T
A
A
T
T
T
C
A
C
C
T
T
T
T
T
G
A
A
A
T
A
T
A
G
T
A
T
G
A
C
C
A
A
G
G
T
T
T
T
G
A
A
4500
T
A
T
A
T
T
A
T
G
A
C
C
A
A
G
C
A
G
A
T
T
T
T
T
T
A
G
A
T
T
T
A
G
G
G
T
C
T
A
A
C
A
A
T
T
G
T
G
T
A
4550
C
T
A
T
A
T
G
A
A
A
T
T
A
G
G
C
C
A
C
A
G
C
C
C
A
G
A
A
A
T
T
C
C
A
A
G
A
T
G
A
T
T
A
A
A
G
T
G
A
A
4600
T
A
A
A
T
T
A
A
A
A
C
T
C
T
A
C
T
G
A
A
A
C
A
T
G
T
T
C
A
A
G
T
A
A
A
T
A
C
T
G
G
C
T
G
T
G
T
T
G
T
4650
T
T
G
G
G
A
G
A
C
A
T
G
T
T
T
T
T
T
A
A
T
C
C
T
G
G
A
G
A
T
T
T
A
G
A
G
T
G
C
A
G
A
A
A
C
G
T
T
A
T
4700
T
T
C
A
G
G
T
C
C
C
A
G
A
A
G
A
C
T
T
T
A
T
A
G
A
T
C
A
G
A
G
A
T
T
G
A
T
G
G
A
T
T
C
C
A
T
T
A
C
A
4750
G
T
C
A
G
A
G
A
A
A
G
G
A
G
A
A
T
A
G
T
G
G
T
C
T
A
A
A
A
T
C
C
T
A
A
A
T
T
G
T
A
T
G
T
T
T
G
A
A
T
4800
T
T
C
A
G
T
G
T
G
A
T
A
A
A
T
A
A
G
A
A
T
T
C
C
C
C
T
T
T
G
C
T
C
C
C
C
C
A
A
A
C
C
C
C
C
A
T
A
T
T
4850
T
T
C
A
G
A
G
A
T
A
G
T
A
G
T
A
T
G
T
G
T
A
T
T
T
A
T
C
T
A
T
A
T
G
G
T
G
T
G
A
T
T
T
A
A
A
T
T
G
T
4900
G
C
G
A
T
G
G
C
C
C
A
A
T
T
G
G
C
T
T
C
A
A
T
A
T
C
T
C
A
T
C
T
C
C
T
C
C
T
A
A
A
A
T
A
C
T
T
T
A
C
4950
G
T
G
T
T
G
A
T
A
T
T
A
A
T
A
T
T
A
C
T
A
T
A
A
T
T
T
C
A
A
C
C
A
A
T
C
T
G
T
C
A
T
T
T
A
C
A
T
G
G
5000
A
A
T
G
A
C
A
A
A
T
A
C
A
C
T
G
A
A
T
A
C
A
T
A
T
T
T
T
A
G
G
A
T
A
G
T
T
A
A
A
T
T
T
A
G
T
A
T
T
A
5050
T
T
C
A
T
A
A
T
T
T
A
C
T
T
T
G
A
A
T
T
A
T
T
A
T
C
A
T
C
T
G
A
C
A
A
C
T
T
C
C
C
T
G
A
A
A
C
A
A
T
5100
T
T
C
A
G
T
G
G
G
C
G
G
G
G
G
A
G
G
G
T
A
G
A
A
A
T
G
G
A
T
G
T
T
G
A
T
G
A
G
G
A
T
A
A
G
A
A
T
A
G
5150
A
A
C
A
A
A
G
T
G
A
T
T
C
T
G
G
A
A
G
A
T
G
G
G
G
T
T
T
T
C
C
C
A
G
G
T
A
G
G
A
C
A
G
A
T
C
T
G
C
T
5200
G
G
T
T
G
A
A
G
T
G
C
T
A
T
A
G
T
G
A
G
T
G
C
T
A
T
A
A
G
A
G
A
A
G
G
G
G
T
A
G
A
G
A
A
A
A
T
G
C
C
5250
C
A
C
A
G
A
A
A
T
G
G
C
A
C
G
A
G
C
C
T
G
A
G
A
C
G
T
C
T
G
C
C
A
A
G
G
C
A
A
G
C
T
T
T
G
C
T
T
A
T
5300
T
T
T
A
A
A
T
T
T
A
G
G
C
A
T
A
T
C
C
T
G
G
G
A
A
T
G
C
A
T
A
T
G
C
T
A
C
T
C
T
T
T
T
G
C
C
T
A
C
A
5350
T
A
T
A
A
T
T
T
A
A
A
C
T
A
A
A
A
A
T
G
A
A
A
T
A
T
C
T
A
A
G
T
A
T
T
G
C
T
A
A
C
T
A
A
A
A
T
T
A
T
5400
T
C
T
T
A
G
G
T
A
G
A
A
G
T
A
A
G
T
T
C
C
C
A
A
A
T
A
T
A
A
G
T
T
C
A
A
A
A
G
C
A
G
A
T
T
G
G
T
A
A
5450
A
T
G
T
T
C
T
T
C
A
T
G
T
G
T
G
G
C
C
T
T
T
G
G
T
T
T
C
T
A
A
G
A
T
C
T
G
A
G
C
C
A
G
T
C
T
A
C
A
T
5500
T
G
A
C
C
C
A
C
T
T
T
T
A
T
T
T
G
C
T
T
A
A
T
C
C
T
C
G
A
T
T
G
T
T
T
A
T
T
C
T
G
C
A
G
T
C
T
T
T
T
5550
G
C
C
A
C
T
T
T
T
C
A
T
T
C
T
T
C
C
C
A
G
T
T
A
T
G
C
C
T
T
C
T
C
C
T
C
C
T
C
C
C
C
A
C
A
C
A
C
A
C
5600
C
A
T
C
C
C
C
C
A
C
C
T
G
C
C
T
A
G
G
C
C
T
T
T
G
A
G
A
T
T
C
T
G
C
C
A
C
C
C
A
A
T
C
T
A
T
C
C
C
G
5650
T
G