AQP3 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
TAAAAAAAAC AAAAA
A
C
A
A
A
A
A
A
C
A
A
A
A
A
A
A
T
T
G
G
C
T
G
G
A
C
A
T
G
G
T
G
G
T
G
50 |
REPEAT
|
var(42):[G:0.01]
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
A
G
C
T
G
A
A
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
100 |
var(63):[T:0.01]
A
A
C
C
C
A
G
G
T
G
G
G
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
150 |
REPEAT
A
A
G
T
G
A
T
C
C
T
C
C
T
G
T
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
G
G
C
A
T
G
T
200
G
G
C
A
GAGGTG GTTGATGCCC AAAGAGATGG GTTTAGCAAT ACTCATAAT
C
250 |
REPEAT
C
T
A
C
A
A
T
C
C
A
A
G
C
A
C
T
C
T
A
G
G
A
G
G
C
C
A
A
G
G
T
G
G
G
C
A
A
A
T
T
G
C
T
T
G
A
G
C
T
C
300
G
G
G
A
G
T
T
C
C
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
G
A
A
A
C
C
C
C
T
T
C
T
C
T
A
C
A
A
A
350
C
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
C
G
T
G
A
T
G
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
400
T
T
T
G
A
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
T
G
T
T
T
G
A
T
C
C
C
A
T
G
A
G
C
T
A
G
A
G
G
C
T
G
450 |
var(450):[A:0.07]
G
A
G
T
G
A
G
T
C
A
T
C
A
T
C
CATGT TTTTAAGAGC TTGTTTAGCT TCTTCTGCTA
500
CCTCTCCTGA CACAACCTGT CCACTTGAAG GGTCCATGCC TATCTGTCCT
550
GAAATGTCAA TGGTCCTGTC ACCTAACATA GTTTGACTGT AGGTCCCAGT
600
GGCCCCTGGG GCTTTCTTGG TGCTGATCAC ATTTCTGATC AAGGACGACA
650
GGACTAACCC TTCTCTCTTT TGGTCCCTCT GGGAGAAGAA CCTCTGCACT
700
AGCCCTGCTC GCTTCTCATT GAACCGTGGG AGCCC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
750 |
REPEAT
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
G
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
A
800
T
G
A
T
C
T
C
A
G
G
T
C
A
C
T
G
C
A
A
C
T
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
850 |
var(834):[A:0.02]
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
A
C
A
G
C
T
G
A
G
A
T
T
A
C
A
G
G
C
A
C
C
C
G
C
C
A
T
C
A
C
G
C
C
C
G
900
G
C
T
A
A
T
T
T
T
T
G
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
A
G
950
T
G
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
1000 |
var(991):[T:0.03]
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
C
G GGGGCCCTTA
1050
TTTCTCATAT TCGTCCCTCA AGGGACAAGT CCTCAGGGTC ATTAGCCCAC
1100
CTGGATTAAG TCCCTCTGGA AAATGATTTC TTTGATCTCC TCTGGCAATG
1150
CTGCCATAGA AGCTCAGCCT AAGGGCATGT TGTTTGCTCC CAGGCCACCA
1200
GATGTTTCCT TGTTATTAAA AGCAGCATAG AGGGCAAGGT T
G
C
A
C
T
T
C
G
G
1250 |
REPEAT
G
A
G
G
C
C
G
A
G
G
T
G
G
G
A
G
G
A
T
C
G
T
T
T
A
A
A
G
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
T
A
A
C
C
T
G
1300
G
G
C
A
A
C
A
T
A
G
C
A
A
G
A
C
C
T
C
A
T
T
T
T
T
A
C
A
A
C
A
G
A
T
T
T
T
T
A
A
A
A
A
T
T
A
G
C
T
G
1350
A
G
T
G
T
C
A
T
G
G
T
G
G
C
A
C
A
T
A
G
T
C
C
C
T
A
T
A
G
T
C
C
C
A
T
C
C
A
T
T
C
T
G
G
A
G
G
C
T
G
1400
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
G
G
C
C
C
A
G
G
A
G
T
T
C
G
A
G
G
C
T
A
C
A
G
T
G
A
G
C
T
G
T
G
1450 |
var(1443):[A:0.14]
A
T
T
G
C
A
C
C
A
C
A
G
C
C
T
G
G
G
T
G
A
T
G
G
A
G
C
A
A
G
A
C
C
C
T
A
C
T
C
T
T
T
A
A
A
A
A
G
A
G
1500
A
G
A
G
A
GGGCA AGGTTGTCCC ATGATCCCCC TCAGATAGGG CTGACTCCCC
1550
CATAATTAAG TTTGCTTAAA GAGGCAGACT T
G
C
T
G
G
G
C
T
C
A
G
T
G
G
C
T
C
A
C
1600 |
REPEAT
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
A
G
G
C
G
G
G
T
G
G
A
T
A
A
C
T
T
G
T
G
G
1650
T
C
A
G
G
A
G
T
T
C
G
A
A
A
T
C
A
G
C
C
T
G
G
T
C
A
A
C
A
T
G
G
T
G
A
A
T
C
C
C
C
A
T
C
T
C
C
A
C
T
1700 |
NOT SCANNED
A
A
A
A
A
A
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
T
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
1750
T
A
A
T
C
G
G
G
A
G
G
C
T
G
A
A
G
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
G
G
A
G
G
T
1800
T
G
C
A
G
G
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
C
C
T
A
G
G
C
G
A
C
A
G
A
G
A
G
A
1850
G
A
C
T
C
C
G
T
C
T
A
A
A
A
A
A
A
A
A
A
A
A
G
A
G
A
CAGA CTCTTCCTTG GCTGGGGGTA
1900
AGTCAGATGG GAGAGGAGAG GGTTAAAAAC AGCTGGGACT CAGCCTGCTG
1950
GCAAACATGT GGCATGTGGC ATGTCGGGGC AACTGCAGCT CAGCCTCTGG
2000
AGCCATGTGA GCAATGCACG CAGGTACACG TGTGACAAGC TAGGTCACCT
2050
AGCCATGTTC AACAGGCATG TGCACAGCCA CGAGGAATGC CCAGCCGTAC
2100
AATTAGGCAC ACAGGACATC CGCCATGTGT AGACACAGCT GTGGACATAG
2150
CTGGCCAGGA CATGCGACAC ACGACGTGCT CATAGCACAG GGAGAAGGGC
2200
CCATGAAGTC TGGTTGGAAC TCAGCACGTG TGTCTGTGTG CCCACCTGAG
2250
TCTGGACTGC TGCCCCTCTG ACACTAGCTG TCCCCTTGAA GGGTCGGTGC
2300
CTTATCTGTC CTGACAGAAG AGACAGTGTT GCTTCTCACT TGGGGCTCGC
2350
AGCCTCCTCC TCCTGCCTCG AACTGAGGAT CTGTTGGGTC CAGT
C
ATCCT
2400 |
var(2395):[T:0.01]
GGAGAGATGC GGCCAGTTTC TTTCTGACAG GTCTCCTCCT GCCCGCAAGG
2450
AAGTGGGGTG ATCACAGGGC GCAGGTGGTC TCTATG
A
CAG CTGCATCCTC
2500 |
var(2487):[T:0.03]
TCCAGCCATG GCCCTGAACC CTGCCTATAA TCCCACCATT GGCTCTCAGA
2550
TCTGCCTAAG CCTCTCAGCC CCCTTGA
C
GT CCCCTCCCTT AAGCGCCCTC
2600 |
var(2578):[A:0.03]
CGAAGGCCAC CCGTCCCTCA AAGCTCCTCA CACTCCATGC CCGCAGCTCC
2650
CTCCACCCGG CGTCCGCACC AGCCTCCCAG CCGAGGTGGG GCGGGGGCGA
2700
GGGGGCGCGC ACTCCTCGGC GCTCCGGGAC TGCAGGGCGG GGCTGCAGGG
2750
CGGGCGGGGC CCGTGTCTCC AGCGCTCCTA TAAAGGGAGC CACCAGCGCT
2800
GGAGGCCGCT G
C
T
C
G
C
T
G
C
G
C
C
A
C
C
G
C
C
T
C
C
C
G
C
C
A
C
C
C
C
T
G
C
C
C
G
C
C
C
G
2850 | Exon 1 |
UTR
|
var(2823):[G:0.39]
|
var(2849):[T:0.01]
A
C
A
G
C
G
C
C
G
C
C
G
C
C
T
G
C
C
C
C
G
C
C
A
T
G
G
G
T
C
G
A
C
A
G
A
A
G
G
A
G
C
T
G
G
T
G
T
C
C
2900 |
var(2855):[A:0.02]
M G R Q K E L V S 9
C
G
C
T
G
C
G
G
G
G
A
G
A
T
G
C
T
C
C
A
C
A
T
C
C
G
C
T
A
C
C
G
G
C
T
G
C
T
C
C
G
A
C
A
G
G
C
G
C
T
2950
R C G E M L H I R Y R L L R Q A L 26
G
G
C
C
G
A
G
T
G
C
C
T
G
G
G
G
A
C
C
C
T
C
A
T
C
C
T
C
G
T
G
GTGAGTGGA GGGAGCCGGG
3000 |
var(2978):[G:0.22]
A E C L G T L I L V 36
GAAGCCCTTC TCTCTCCAGC CCTTGCACTC CCCAAACTCT CACTTCCCCG
3050
AAGGGGCTGT GTTTTCCAAG GTAGCCTGGA CCCACCTCCC CAGCT
C
TGAC
3100 |
var(3096):[G:0.24]
CCCCACGCTT AACCGCGGAG GATCAAGCTG ACTTCCAAAG TCCTCTTCCC
3150
CACGGTTCTA ACCCCCTCTC TGACAGCTCC GACTCTTGCC AGAATGACAG
3200
CTGT
T
ACTCC CCAGTGATAG TGCCGATCGT TTACCCTCCC ACAAGTGACT
3250 |
var(3205):[C:0.03]
CAGCCAACAG GCTGGGGGCA GCGGTCACGC TTGCAGTCTG GGACAGCCAG
3300
CCACTTCCCC TGCCTCCCAC ACCCCTCCAG ATTCCCAGAA TCCCAGCCCC
3350
CAGATGTAGG GGAGGGGGCG GAGGCAAATG AGCCATTATT AGGTTATTTG
3400
GGTCCTGGGT GTCTGGCCTC TAATGAATAA TTAAGCCTCA AAAAGTCCAA
3450
AGGTTGAAGT GAGTGAGGAC AGTTTGCACG AGTGGGGGCA GAGGGTGCAG
3500
GCCACATGGG CTGCGAACAG CGAAGTGGGA AGGGAGGCAG ATTCTGACGG
3550
TAGAAGGGTG GGAGGAAGCT AGGCCCAGGC ACAGAGGACG CGTGTCTAAA
3600
GTTGCTCACC TGGTGCTCAG CGACTCCCAG GCCCTGTCTG TTATCCAGAC
3650
AGATGCTGTC AGCGTCTGTG CAGAAGACGA CAAGCATTCT GGTTACTCCC
3700
TGGCCTCTTG GTTACTCTGT GGGTTCTCTG AGTGAGCATT TCCCTGCCTG
3750
AGTTACTCCT CAGTCCTAGT TACTCCTTGG TCACACCAGT TTCACCCTGG
3800
TTTTGTTCTG AGTGACTCTG TTTGCACTTC TTAG
G
TCTGG CAGACCCACC
3850 |
var(3835):[T:0.02]
AGTTATGTTC TATTTCCTGT CCCAGTTACT CTGATTTTTC AGCCGCTCAT
3900
GTGGTTACAC CTGTT
T
TCCT CTGTGTTCAG TTGCTACATT GCAGTGAGTG
3950 |
var(3916):[C:0.03]
GGTTACTCCG TTCCTGCCCC AGCCCTGGGT AGTACAGACC AGCTGGCCCA
4000
CTGTGGACTA GGAAGCCTAA CTAAGGGCAA GTAGGGATCC CCAAATGGTT
4050
GAGGATCAGG ATCTATGGGC AGAGGAGGGC TGAAACCCAC TTCTGGCTTC
4100
CAAGAATAGG AAGTGGGGAA GCCACAGGGG GCATTTTATC CACAGCCTCC
4150
CATAAGATTA GTCGTCCTAT CAGCCAGCCC TAGCCCCTCT CTCCTGTGCC
4200
AAGAAGGCAA TAGGAGGTGG CCTTTATCAC TCT
C
CTGCCT CGGAGCCCTC
4250 |
var(4234):[A:0.01]
ACTCCTATCG GAGTCCTGAG T
C
CAGCCACC TGTTTTAGAG CAGCCAGGCT
4300 |
var(4272):[A:0.01]
AGGGGAGGAT GATGTCTTCT ATTTTCCTAG AGGGGCCTCC TCATTCCCTC
4350
CCAAGTCTCA GTTCACTCTC TCACAAAGGA GCCGTTAGTC CTCCCACTGA
4400
GCCCCAGGAT CATCAGGCTT ATCCCAGACC ACAAAAGAAG AGTGTTAAAT
4450
TTTAGGGGAA GGGTTGCAGA CTCAGATGGA TGTGAGGTAT TGGATATCAG
4500
TGAGAAGCAG AACTTCAAGG ACTGCATGAA CTGGAGGGGC AGGCCTGGGG
4550
ATCCCTTTGT AGTGGGTGAG TGCCTGCCTG CCTACCTGCG TGTTGGGAGC
4600
CTAGGCCTGC AGTGGCAGAA TCAGGGTTGG CTTTGGGGTG AGGAAAGCCC
4650
CTTTCTCTGA GATACCTGGT GTGAGGGCAG GGGGC
G
GTGC TGGCCGAGAA
4700 |
var(4686):[A:0.01]
CTCAGGGCAG GGGTTGGGGG AGGAAGAGGA AGATTAGCCC CAAGGTGGTG
4750
GAACTGGCTC TGACAGCTCC TCCCTCCAAG GCGTCCTGGG ATGGAGCCAG
4800
GTCTGAGCCT TTGGCAGGCA AGGAGCTGCT GCCAGGGCCT CCCAAGCAGG
4850
GCAGGGCGCC TCAGACCCTC ACGTGCCTGT CTCCCACCAC CCCTCCTCAC
4900
ACATACACCT GCAATCTCTG ATCTTTGCTC TCACCTGCCT GCACACCTTT
4950
GCCCCATGTC ATTGCCGCTG GCTTCTCCGT TATCTCTTGG TCTTTCTGGG
5000
ATGATAATCA AAATGCTTAA CTATCCAGTA CAACAGGCAC TGACCCGTCA
5050
GAATAAACAA GGTCTGTAGC ACAGGTCCTG GAAACTGCCT GCTCTGTGGG
5100
CATAAAACCT TTAGTTATGG GCAGGTGGGA GAGGAGACCA GGGCAAGGCA
5150
TTGGAGCAGC TTTGAGGGAC ACTCAGGGGG CTCAGGGCAA CAATGCTTTA
5200
CAGCTGCTGC AGAAGTATTT TCAGGCTTGA ACAAGGGGAA CAGACATAGT
5250
ACG
T
T
C
T
T
T
T
T
C
T
T
T
T
T
T
A
A
A
T
A
G
A
G
A
C
A
A
A
G
T
C
T
C
A
C
T
A
T
G
T
T
G
C
C
C
A
G
5300 |
REPEAT
G
C
T
G
T
T
C
T
C
A
A
A
C
T
C
C
T
G
G
G
T
T
C
A
A
G
A
T
C
C
T
C
C
C
A
T
C
T
C
A
G
C
C
T
C
C
A
A
A
G
5350
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
A
G
C
T
G
G
C
TCCAG TATGTTCTAT
5400
ATTTGTAGAA CACCAGGGCT CTTAGTCTCT TTTAGTTCCC CCATTTTTGG
5450
CAGAAAGTTT AGAACCGATC TCCCCATTTC TACAGCCCTG GGTCCCGGGC
5500
TGGGGATAGT GAGAGGAGCC ACACAGATCC CTGTCTGTAG
G
ACCTCCAAA
5550 |
var(5541):[A:0.33]
TCTGAGTGGG GAATCTGGAC CCCTGAGAGC AGAGAGGTCA TGGGTGGAGA
5600
GAGGAGACGC TGGGACAGGG ACAGGTAAAG GAAGGGGAGG TTG
C
TGAGGG
5650 |
var(5644):[T:0.40]
GGACATGGTG AAGGCTGGGG CTCTGGCATC CTGGACTCAG GAGAAGTGGA
5700
TTCAACCTCA CTTCTGGTCT CCTCCCTATT TATTTATGCC GCCCATTGCC
5750
ACCACTACCA CCACCACATG AGC
T
T
T
T
C
T
T
T
T
C
A
A
C
T
C
T
T
T
T
T
T
T
T
T
T
T
T
5800 |
REPEAT
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
C
C
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
A
A
G
T
G
C
A
G
T
G
G
C
G
C
A
5850
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
A
T
C
T
G
C
C
T
C
C
C
A
T
T
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
5900
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
G
G
C
A
C
C
T
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
5950
T
A
A
T
T
T
T
T
G
T
A
C
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
6000
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
A
C
C
C
A
C
C
T
C
G
G
C
C
T
A
C
C
A
A
A
G
6050
T
G
C
T
G
G
G
A
T
T
A
C
A
G
T
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
G
G
G
C
C
TACAT GAGCTTTTCT
6100
TTGGGGCAGC TGGGGGATGA GTGAGAGGCT TCCCACCTTT ATGGTCCAGG
6150
CCTGAAGGGC TGTGGAGAAA CTTGTGCTAA GGTGAAAGCT GTTCCCCTAC
6200
ACCTACGCCT GCTGAAATTC AAGGAAAATC AGTGAAGATG GTTCAGTCAT
6250
CTTCTAGGAT CCCAGTCGCA GACCCTGCTT CCAGCCCTTT CCATAGGGCC
6300
CTCTCATATT AGAGTTGGGA CAGTG
G
GGTG GGAAGGCATG TGTCCTTTTT
6350 |
var(6326):[T:0.01]
CTGGAAAGTG CAATTACAGC AGAAGGGGTT TGGGCTGGGT TCCAGGAAGC
6400
G
C
CTCTAGTC CTCCCAGTGG TGGCGAGTGG GCATGTTGCT GGCTTCACCC
6450 |
var(6402):[G:0.18]
CTTCCTTCTG GAGTGAGAGT TGCTGGTCCT CACCCTCCCT GCCTGTTCTT
6500
CTTCCTGACA G
A
T
G
T
T
T
G
G
C
T
G
T
G
G
C
T
C
C
G
T
G
G
C
C
C
A
G
G
T
T
G
T
G
C
T
C
A
G
C
6550 | Exon 2 |
var(6530):[A:0.01]
M F G C G S V A Q V V L S 49
C
G
G
G
G
C
A
C
C
C
A
C
G
G
T
G
G
T
T
T
C
C
T
C
A
C
C
A
T
C
A
A
C
C
T
G
G
C
C
T
T
T
G
G
C
T
T
T
G
C
6600
R G T H G G F L T I N L A F G F A 66
T
G
T
C
A
C
T
C
T
G
G
G
C
A
T
C
C
T
C
A
T
C
G
C
T
G
G
C
C
A
G
G
T
C
T
C
T
G
GT AAGGCCTTAA
6650
V T L G I L I A G Q V S 78
CCCTGCCCCC AGCCCTTGGC CCTCAATAGC ATTCCCACTA GGTGTCCTGG
6700
CATTCCTAAG GGCAGGTCAC AGCTGTGGCC TCTGCTTTGG CCCCTTGGGA
6750
AAGGAGGGTG GAGAAGAAAC TTGACACTTA GAACTTTCGA CTCTCACCTT
6800
GGAATCAGA
G
ATTATCAGCT GACCTGTTAC ATAGACCAAC CGCCATCCTG
6850 |
var(6810):[T:0.01]
TGCAAGAAAC CCCTCTCTGC ACCCCTTCTC AGGGGACCCT AGCCTGCCGA
6900
CTGTGGCAGG CTGCAGCTAA TAGGTCCCTT GTCCCCTCTG CCCAG
G
G
G
C
C
6950 | Exon 3
G A 80
C
A
C
C
T
G
A
A
C
C
C
T
G
C
C
G
T
G
A
C
C
T
T
T
G
C
C
A
T
G
T
G
C
T
T
C
C
T
G
G
C
T
C
G
T
G
A
G
C
C
7000
H L N P A V T F A M C F L A R E P 97
C
T
G
G
A
T
C
A
A
G
C
T
G
C
C
C
A
T
C
T
A
C
A
C
C
C
T
G
G
C
A
C
A
G
A
C
G
C
T
G
G
G
A
G
C
C
T
T
C
T
7050
W I K L P I Y T L A Q T L G A F 113
T
G
G
G
T
G
C
T
G
G
A
A
T
A
G
T
T
T
T
T
G
G
G
C
T
G
T
A
T
T
A
T
G
GTAAGCA TTCCCCACCC
7100
L G A G I V F G L Y Y 124
TGTCCTCCTC CACTACCCCC GTCCCTCTGT TCAGGACCTG CTGGCACCAG
7150
GCCTTTTGAT GACAGACGGC TAGGACCTGC CCAGGCCCCG GGCTCATGAC
7200
TCACTCATTC ACGCACAGGG TCAAGGTAGG GGGCACGAAG G
G
AAAGAAAC
7250 |
var(7242):[A:0.01]
AAGTTGGGCA ATAACAGAGT CTCAGGCCCT CCACCCCACC CCACG
C
CACC
7300 |
var(7296):[T:0.10]
CCCTCTGCCT GCTGCAATAC AGCAGTATTG CTACTTACCC ATAACTCATG
7350
GGAGGGTGGG GAGGGCACAC
C
TGAGAGGGA AGTCTGGGCT CAGGCCTCTC
7400 |
var(7371):[G:0.04]
CCCCGACTCA CTGTG
G
GTCT AATCTGTCAC CAG
A
T
G
C
A
A
T
C
T
G
G
C
A
C
T
T
T
7450 |
var(7416):[T:0.28]
| Exon 4 |
var(7450):[C:0.26]
D A I W H F 130
G
C
C
G
A
C
A
A
C
C
A
G
C
T
T
T
T
T
G
T
T
T
C
G
G
G
C
C
C
C
A
A
T
G
G
C
A
C
A
G
C
C
G
G
C
A
T
C
T
T
7500
A D N Q L F V S G P N G T A G I F 147
T
G
C
T
A
C
C
T
A
C
C
C
C
T
C
T
G
G
A
C
A
C
T
T
G
G
A
T
A
T
G
A
T
C
A
A
T
G
G
C
T
T
C
T
T
T
G
A
C
C
7550
A T Y P S G H L D M I N G F F D 163
A
G
GTATGGGC TGGGGACGTG TGAGGGGAAC GCAGGGAGGG GAC
C
GAGTTG
7600 |
var(7594):[T:0.01]
Q 164
CCTTGGTAGC TCATGGGCTG GTTGGGGGAC AGGACTCCTC GACTGTAGCA
7650
GGGTTTCTCC AATCTGTGGG GTAACCCGCA TCAGAACATG GTGGCAAGTA
7700
CTTA
C
AAAAC ATGCGGCTCT CCAGCGGGTT CTTGTCACGC AGACATTCTA
7750 |
var(7705):[T:0.01]
GCACCATTGC TTTCAGGAGA
A
GAGCATGGG CGGGCGCTGA CAAGAGTTTA
7800 |
var(7771):[C:0.01]
AGAGCTAGAG GGAAGACGGG GGATGGAAGG AGGGGTCAGA GAAAGGGAGG
7850
GAGCTGCAGC TCACCCTGTT CTCCCCACTC CCCAG
T
T
C
A
T
A
G
G
C
A
C
A
G
C
C
7900 | Exon 5
F I G T A 169
T
C
C
C
T
T
A
T
C
G
T
G
T
G
T
G
T
G
C
T
G
G
C
C
A
T
T
G
T
T
G
A
C
C
C
C
T
A
C
A
A
C
A
A
C
C
C
C
G
T
7950
S L I V C V L A I V D P Y N N P V 186
C
C
C
C
C
G
A
G
G
C
C
T
G
G
A
G
G
C
C
T
T
C
A
C
C
G
T
G
G
G
C
C
T
G
G
T
G
G
T
C
C
T
G
G
T
C
A
T
T
G
8000
P R G L E A F T V G L V V L V I 202
G
C
A
C
C
T
C
C
A
T
G
G
G
C
T
T
C
A
A
C
T
C
C
G
G
C
T
A
T
G
C
C
G
T
C
A
A
C
C
C
T
G
C
C
C
G
G
G
A
C
8050
G T S M G F N S G Y A V N P A R D 219
T
T
T
G
G
C
C
C
C
C
G
C
C
T
T
T
T
T
A
C
A
G
C
C
C
T
T
G
C
G
G
G
C
T
G
G
G
G
C
T
C
T
G
C
A
G
T
C
T
T
8100
F G P R L F T A L A G W G S A V F 236
C
A
C
GTGAGTA CAGCCCCCAC CCAGCTCAC
C
CCAGCCTGCC TCTCCTCTGC
8150 |
var(8130):[T:0.03]
T 237
CCTGCCCCCC ATGTCCCTGA CTATGAGTGT CTGTCCCCCC AG
G
A
C
C
G
G
C
C
8200 | Exon 6
T G 239
A
G
C
A
T
T
G
G
T
G
G
T
G
G
G
T
G
C
C
C
A
T
C
G
T
G
T
C
C
C
C
A
C
T
C
C
T
G
G
G
C
T
C
C
A
T
T
G
C
G
8250
Q H W W W V P I V S P L L G S I A 256
G
G
T
G
T
C
T
T
C
G
T
G
T
A
C
C
A
G
C
T
G
A
T
G
A
T
C
G
G
C
T
G
C
C
A
C
C
T
G
G
A
G
C
A
G
C
C
C
C
C
8300
G V F V Y Q L M I G C H L E Q P P 273
A
C
C
C
T
C
C
A
A
C
G
A
G
G
A
A
G
A
G
A
A
T
G
T
G
A
A
G
C
T
G
G
C
C
C
A
T
G
T