TNFRSF1A 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
G
A
A
A
C
T
T
G
C
A
C
T
T
G
A
T
T
C
T
G
A
G
G
C
T
C
C
T
G
C
T
T
C
T
T
C
A
A
G
A
A
C
A
C
T
G
C
T
T
T
50 |
NOT SCANNED
G
G
G
T
T
C
G
C
T
T
C
T
C
C
T
G
T
C
C
C
T
G
G
G
G
T
C
T
C
C
C
T
T
T
G
T
G
A
T
G
G
T
G
G
T
G
A
G
C
T
100
G
C
T
T
C
C
T
T
T
C
T
G
A
A
T
CCAGC TTCAACCCTA CAGTTCTCCA GAAGCTGGAC
150
GATGGGGTGG AGTAAAGTCA GCTCCCCCCG CAGTGAGGGA CACTGAAGCT
200
CCATTCTCAT CTGCGGATCA CAGAGGGGAA GCCAGGAAGA GCCAGGGGAC
250
GGTGGACTTG GGGCTGGGAG GTCATCTCAG AGGGATAAGG GGTGAGGAGC
300
TCTGGTTTCA AGTTCCAAAG CCCTAGGACC TCCCTCTTCT CTGTCTGCCT
350
GCATTTCTAG CAGCCTCAGC AGCTGCAGGC CCTTGGGCGG GGCTGGATGT
400
AGGGAAGGTC ATTGTACCAA GAAGATAGTT GGGTAAATGT GGTACCTTTG
450
TTGTAGGATT CTCTTGGGAG ATGTCTGCAT CAATGAGGAT GGCATAAAGT
500
AACCAGAGTC AGGATGTGGG GTCTGACTCA GTGACAGAAA AAG
T
G
G
C
A
G
T
550 |
REPEAT
G
T
G
T
C
T
C
T
C
A
T
A
G
C
C
A
A
A
G
G
G
G
C
C
C
T
T
G
G
A
C
C
G
G
C
A
G
T
C
G
G
G
A
G
T
C
T
G
G
G
600 |
var(574):[T:0.03]
G
T
T
C
T
C
T
G
T
T
G
G
C
T
C
T
G
C
C
T
C
C
T
G
G
C
A
C
A
T
T
G
G
G
T
T
T
C
T
G
G
A
C
C
T
C
A
G
T
T
650
T
T
C
T
C
C
T
C
T
A
T
A
A
A
A
C
C
G
G
G
C
A
G
T
T
G
G
GT
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
700 |
REPEAT
|
var(685):[T:0.23]
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
A
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
C
A
G
A
T
C
A
T
T
T
G
G
G
C
C
C
A
G
G
750 |
var(718):[C:0.36]
A
G
T
T
C
A
A
G
A
C
C
T
G
C
C
T
G
T
G
T
A
A
C
A
T
G
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
800
T
A
C
A
A
A
A
A
T
T
A
C
C
C
A
G
G
C
G
T
G
G
T
G
G
T
A
T
G
C
A
C
C
T
A
T
A
G
T
C
C
C
A
G
C
T
G
C
T
T
850
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
T
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
C
G
A
G
G
C
T
G
C
A
G
900
T
G
A
G
C
T
G
C
G
A
T
G
G
T
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
A
A
A
C
G
G
A
G
C
G
G
A
C
C
C
950 |
var(945):[T:0.02]
|
var(947):[G:0.02]
T
C
A
A
A
A
C
A
A
A
A
A
C
A
A
A
A
A
T
G
A
A
A
A
A
C
A
A
GC AAACGAAGAA ATAAAAAAAC
1000
CTAGGGGGTT GTAGTCGATG ATCTGTAAGG TGAGTTATAA TTGATGTATT
1050
GGAATATTTA GGAAAAGGGC ACTGGGAATA TGCTAGGAAC ACCTGATGGA
1100
GGTATCTTTA TTTCCACGGC AGCTTCGTGG ATACGT
C
T
C
A
T
T
G
A
T
T
C
T
C
A
1150 |
REPEAT
T
G
G
C
A
T
C
A
C
T
T
T
C
C
C
C
A
T
G
T
A
G
G
T
G
G
G
C
A
G
A
C
A
T
T
G
T
T
A
C
C
C
C
T
G
T
T
T
A
A
1200
T
A
A
A
C
A
A
G
G
A
A
C
C
A
A
C
A
G
A
G
G
C
T
T
A
G
G
A
G
A
G
G
A
G
T
T
G
C
C
T
G
A
T
G
T
C
G
C
A
T
1250
G
A
T
T
G
G
T
G
G
C
A
G
A
G
C
C
A
G
G
A
T
CAACAGTGG GGCAGGGTGG GGGGACCTGG
1300
CCAGGCAGAG ACTGGATGAG ACCTGGGGTG AGGAATGGCA GGCACCCAGT
1350
CAGGGCAGAA AACGAGGGTT GGGACTTACT TTGAGTTTTG GATTGGATCA
1400
GTAAATTCCC AAGAAAGAGG GAGACTAGGA GGCTAGTGAA GAACTCTGGA
1450
GTAAAGGGGA GGATTACTAA GGGAC
A
T
G
G
A
G
T
A
C
C
T
A
T
C
A
T
G
T
G
T
C
G
G
A
C
1500 |
REPEAT
G
C
T
T
A
T
C
T
A
T
A
T
C
T
C
T
C
C
C
A
T
C
T
G
A
A
C
A
A
A
T
C
C
T
T
A
C
A
G
G
A
A
C
C
C
C
A
G
G
A
1550
G
A
C
A
G
G
T
T
A
T
C
T
C
C
A
C
T
C
T
G
C
A
A
A
T
T
G
G
A
A
A
A
C
A
G
A
T
C
C
A
G
A
C
A
G
G
T
T
C
A
1600 |
var(1596):[T:0.21]
G
T
T
A
T
G
T
G
T
C
T
G
A
G
A
A
G
T
T
C
A
T
T
T
A
T
G
T
G
T
C
C
A
A
G
A
C
A
C
A
T
T
C
T
T
A
G
C
T
A
1650 |
var(1625):[G:0.23]
A
A
A
A
G
C
T
A
A
G
C
A
T
T
C
T
G
A
A
T
T
G
G
A
A
C
C
C
A
G
A
G
A
A
T
T
T
G
A
C
T
C
C
C
A
G
A
C
T
C
1700
T
G
G
A
T
C
T
T
T
T
C
A
C
T
G
C
T
G
T
G
ATCCATCTGG GAAAGGCTAG TGATGTGGGC
1750
AAGGGGCTTA TTGCCCCTTG GTGTTTGGTT GGGAGTGGTC GGATTGGTGG
1800
GTTGGGGGCA CAAGGCAGCC AG
A
TCTGGGA CTCCTGTGCT TGTGACTGGA
1850 |
var(1823):[C:0.03]
CTACAAAGAG TTAAAGAACG TTGGGCCTCC TCCTCCCGCC TCCTGTGGCC
1900
TCCTCCTCCA GCTCTTCCTG TCCCGCTGTT GCAACACTGC CTCACTCTTC
1950
CCCTCCCACC TTCTCTCCCC TCCTCTCTGC TTTAATTTTC TCAGAATTCT
2000
CTGGACTGAG GCTCCAGTTC TGGCCTTTGG GGTTCA
A
G
A
T
C
A
C
T
G
G
G
A
C
C
2050 | Exon 1 |
UTR
A
G
G
C
C
G
T
G
A
T
C
T
C
T
A
T
G
C
C
C
G
A
G
T
C
T
C
A
A
C
C
C
T
C
A
A
C
T
G
T
C
A
C
C
C
C
A
A
G
G
2100
C
A
C
T
T
G
G
G
A
C
G
T
C
C
T
G
G
A
C
A
G
A
C
C
G
A
G
T
C
C
C
G
G
G
A
A
G
C
C
C
C
A
G
C
A
C
T
G
C
C
2150
G
C
T
G
C
C
A
C
A
C
T
G
C
C
C
T
G
A
G
C
C
C
A
A
A
T
G
G
G
G
G
A
G
T
G
A
G
A
G
G
C
C
A
T
A
G
C
T
G
T
2200
C
T
G
G
C
A
T
G
G
G
C
C
T
C
T
C
C
A
C
C
G
T
G
C
C
T
G
A
C
C
T
G
C
T
G
C
T
G
C
C
A
C
T
G
GTGAGA
2250 |
var(2241):[G:0.47]
M G L S T V P D L L L P L 13
CCAGGGACAA AGGGAAGAGT GGGCTGGTGG GCGAGGCACC TTCCGGCTGG
2300
CGTGGGCCCT CTCCGGGAGG GGGCCGAGCC TCTCCTGCCC GGGCCTGGTC
2350
CTGGCGCCAG CCTCAGGCCT GCAGGTCCTA ACCTCAGCCA CTGCCAGTGT
2400
GGGGTTCCCC ATTCATCCGC CTTTTGGAGT AGGGGCTGCG CTGAGGCAGG
2450
GGAATGGGAG AAGTTTGAAA GGGAGAGAGT AAAAGGAAGC CCTGGCCCCT
2500
GACAGCGGTG GAAGTTTGTG GGCGGCCAAG GGAATGTGGG CAGGAG
A
TAG
2550 |
var(2547):[G:0.21]
GCCCAGGGTG GGGCAGATTT GGCGGGGAAA AGAAGGGAGT GGGAGTAGGA
2600
AGATTAG
T
GC TCGGGGAGTC CAGACGGTTC TGAATTCTGT CCCTCCGGTC
2650 |
var(2608):[C:0.22]
AGCTGGCTGG CCTGGAGGGT GTTGGGCCGT GGGGAGGCGA GGCTGCCTGT
2700
GGAACTTGGT GGAGCACACC CTGTAGGGCA GGATTTTGGC GGCTGGTGAA
2750
GTGGGGGAGT GAGTTGAGGA GTGGGGATGG GCTGGTGTGG TGGGTTTGGG
2800
ATGCTCATGG TGGGAGGTAT TTGAGAATGG GCTGGGACAC TGGATGGGGC
2850
AGGGCAACCC AGTGGACAGT GTCCCCAGTG CCCTGGCCA
A
GCCCCGGCCT
2900 |
var(2890):[T:0.01]
CTCACCTGGG GACATTCTTT ACCCTTTTGC CTGCTGCTAG GCAGGTAGCC
2950
GCTGTGGGAC TGAGCCTTCC CAGGGAGCTA GTCCTACCCC
C
ACCTGGTCA
3000 |
var(2991):[A:0.01]
GTGTCCCTGG GCCTGTCCTC CAGCTTCCCC TCCCCGCTGC TTCTCA
C
AGA
3050 |
var(3047):[A:0.01]
CCTAAACAAC AATCCCTTGG TTTCTTATTC TACAGTTCAG TTTGGGGAAG
3100
TTGGTAGAAA GTTGTTTTCG TCACTGGAAA ATGTCCCTTT CTCTGGCCTC
3150
AGCCTTGTTT CAATGTATCC TTGATCGTCC TCCACGTCTT GGTCCGGGAA
3200
TCATCCTGTT CAGATGTCCT GGGCCCATCT AGTCAGGCAG ATTTTCCCTG
3250
CCCTGCCCGG CCTCTGAAGG CTGCGCCTAC CTCCCCTCTC TTTAGTGCCT
3300
TATACTCTTC CTCTCCTACC ATTCCTTTCT TCCAGCAATC TCCCCAGACT
3350
CTCCTCAGAC TTCTCAGAGC CTCTTTTTTT GAAATCTTTT CTCGCTAATC
3400
CTCCTTCCCC TCCTCTCTGC TCCGCTCTGG TCCCGGCCCC AG
G
TCCCCAG
3450 |
var(3443):[T:0.02]
GCAGCACGTC TCTGGTCAGG GTCTCACTCT TCTTCTTCTG CCTCCTCCTG
3500
CCTCCTTAGT CCCACCCGCT CTTCCCTTCT TCCCACTGTC CTTCCCCCAC
3550
GGTCTCCCCA CCAGCCAGCT GCCCTGACAT CCTGCTTCTG TTTT
C
T
G
T
T
T
3600 |
REPEAT
G
G
G
G
G
C
G
G
C
C
C
C
T
G
G
C
T
C
C
C
T
C
A
C
A
T
A
C
C
T
C
C
T
G
C
A
T
G
A
A
C
A
A
G
A
G
C
A
G
C
3650
T
T
A
T
A
T
A
A
C
C
T
A
A
C
C
T
T
C
C
A
T
G
C
C
T
T
C
G
T
T
T
C
T
T
T
A
T
C
T
C
C
A
A
A
A
T
G
G
G
T
3700
G
T
C
A
C
A
G
T
C
T
T
G
A
C
C
T
C
A
T
A
C
T
G
T
T
G
T
T
T
T
G
A
A
G
A
T
T
G
A
A
T
A
G
A
C
T
G
A
T
A
3750
C
A
T
G
T
T
A
A
G
T
G
T
T
C
A
TTTG
A
T
T
T
A
T
T
A
A
G
T
G
T
G
C
G
C
T
C
T
G
G
G
C
T
A
G
A
C
A
C
3800 |
REPEAT
T
G
T
G
A
T
A
G
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
C
A
G
A
G
A
A
C
A
A
A
A
T
C
C
C
T
G
C
C
C
A
C
A
G
C
T
3850 |
var(3802):[C:0.06]
T
T
G
A
C
A
G
T
C
C
A
T
C
A
G
G
G
G
A
A TAGGTTGTAG CAAATAGAAA GCACTCAATA
3900
AAGTTTTTAT ATTGCTGTGA CTAGTAGTAA TTACTGGGTG GCTACCTGTG
3950
TTGGGAAAAC AGAGGGTAAA GGTA
G
C
CTGA ACAGGTAAAG GGAAGTGCCT
4000 |
var(3975):[A:0.06]
|
var(3976):[A:0.06]
GCGTCCTGGG GTGCTTCAGC CCAGGTGGGA TTATGTCTCC TAAGGGACAG
4050
AAGCCTGGCC TGGAGCTGGA
G
GAAAGGGAA AACAAAGGGA ATGCAACATC
4100 |
var(4071):[A:0.36]
CTTCTGAATT TCTCACCATT CAGTGGGCAA TGCAGAGCTC ACAGTGTGTG
4150
TGTGTGTGTG TGTGTGTGTG TGTGTGTGAG AGAGAGAGAG AGAGAGAGAG
4200
AGAAGTGGGG TAGGGGAGTA GGGAAGAAT
G
A
T
A
C
A
G
G
A
G
A
G
A
C
T
G
T
G
G
C
A
4250 |
REPEAT
A
A
G
C
A
A
A
C
A
G
G
A
T
T
T
T
G
C
T
G
C
T
C
T
C
A
A
A
G
A
G
C
T
T
A
C
A
G
C
C
T
A
G
T
AACCAA
4300
GATGGCTTAC AGTGAAAAAT GATTTCAGAG CAATCCCGAG GAAAATATCC
4350
ACAAATGCAT TGTGATGTGG TGTCCTGGAG CACCAGTTGG GAGGAGGAGG
4400
AACTGGGGAA GGAGGTGAGC
C
T
T
A
G
T
C
C
A
C
T
G
C
C
T
T
T
C
C
T
T
G
C
T
T
A
G
C
A
G
4450 |
REPEAT
G
T
C
T
C
A
G
C
T
C
C
T
G
C
G
C
T
C
A
G
C
T
C
C
A
G
A
A
A
A
T
T
C
A
G
G
A
G
C
T
T
C
C
C
C
A
C
G
C
T
4500
G
C
T
T
C
A
G
T
G
T
C
C
T
T
C
A
C
T
G
T
G
C
A
A
C
T
G
C
A
G
C
A
C
T
C
C
C
T
G
T
A
T
A
G
A
T
C
T
C
A
4550 |
var(4506):[G:0.03]
G
T
G
C
C
T
A
C
A
A
C
T
G
A
C
T
G
T
C
T
T
T
G
A
C
T
C
A
A
G
T
G
A
G
A
G
C
T
C
T
T
G
A
G
A
G
C
A
C
G
4600
A
G
C
T
G
T
G
T
A
T
T
A
T
C
C
A
C
C
T
C
A
G
C
A
T
C
C
C
T
A
G
C
A
C
C
C
A
T
A
C
G
G
G
A
C
C
T
G
T
C
4650
A
C
A
T
T
A
A
C
T
G
T
G
C
C
C
C
T
T
A
A
C
T
A
T
T
T
G
C
T
G
A
A
G
G
A
A
T
T
A
A
GGAACAAGAG
4700
ATGTGTCAGA TGGGATGGCG GAGGGAAAGC CTCATAGAAA AGTGGATGTG
4750
GAGCTGACAT CTGAAGTCAC TGCCTGTCAG GGTAGCTATA AAGGAGGGAA
4800
GCAGAGTTGG ATACTGATGT GAGGAAGAGG AGAGGAATGG AGAGATGGGA
4850
TTTTGTGTTG ATGGGCAGGG TGGCAGGAAG CCAGACACCT TGGTTCGGGA
4900
GTGGAAAAAC CATGTTGAGA AACACTAAGA AATGTGAATG GGAGAATTAG
4950
AGGGAGTGGG GGAGAGGATG GAGGAAGAGT GTTGAATATG GTTCCAGGTG
5000
GAGGAATTCA TTCATTCGTT TATTCAGAAG CTGTTCTCCT AGGGCACATT
5050
CTGTGCCCAG ACTGTGATTA GAAGTGAGGT GAGGCATCTC AGAT
G
G
G
T
G
C
5100 |
REPEAT
T
G
T
G
G
T
T
C
A
T
G
C
C
T
G
T
A
A
T
T
C
C
A
G
C
A
C
T
T
C
A
G
G
A
G
G
C
C
G
A
G
G
T
G
T
G
T
G
G
A
5150
T
T
G
C
T
T
G
A
G
T
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
C
A
G
C
A
A
A
A
C
C
C
5200
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
G
A
T
T
A
G
C
G
G
G
G
C
A
T
G
G
T
G
G
G
G
C
G
T
G
C
T
T
G
5250
T
C
A
T
C
C
C
A
G
C
T
A
T
T
C
G
G
G
A
G
A
C
T
G
A
G
C
T
C
G
G
G
A
G
G
A
C
G
G
C
T
T
G
G
G
C
C
C
A
G
5300
G
A
G
G
T
G
G
A
G
G
T
T
G
T
A
G
T
G
A
G
C
C
C
T
G
A
C
C
A
C
A
C
C
A
C
T
A
C
A
T
T
C
C
G
T
C
C
T
G
G
5350
T
G
G
T
G
A
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
T
C
A
C
C
C
T
G
G
G
5400
T
G
A
C
A
G
A
G
T
G
A
G
A
C
C
C
T
G
T
T
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GTAGTGAGGC
5450
ATCTGTGGAA GTCTTCAGAT CATTTCCATG ACCATGGAAA TGCTGTTTGG
5500
AGCCAGGCCC TGGAGATGGA GAGGAAGGTT CACACACTTG TGCGTGCAAG
5550
TTAAAGCCTG AATGAAGATT TAAAAAGTGT GTAGGA
C
GGA TGGGAGCAGG
5600 |
var(5587):[T:0.01]
AGAGAGGCTA GAAGACACTT GCAATAACCC AGGTGTGAGG CAACCCAGGA
5650
ATGCGGAGAG GAC
T
GAGAGA TCACAGGGGG AGGCCTCGCA AGATGAACTG
5700 |
var(5664):[C:0.24]
ACACATGGGA TGGCGGCAGG GATAGGGATG GGGCCCTGGG GAGAGAGC
G
T
5750 |
var(5749):[A:0.14]
GGCAAGTTCT CAGCATTCGT CCGGGAAGTC GATGGTGTGT CATTTGTCTA
5800
GGTGAGGAGA TGGATGAATT CCGTCTGG
G
G CATGTTAAGG GTCAGGGAAA
5850 |
var(5829):[A:0.01]
TGGTCATGTG GAAGGGTGCG CCTACCAAGC TGGAGGAGAG GTGCTGCAAC
5900
TTCTTTCTGC CTTTGTATCA TTCAGACACA CTGTGTTCAC TCATCAGTGG
5950
TTCTCAAAAG GAGAGGAGCA CACCAGACTC TTAAGTAAGG GTGTGTGTGC
6000
TTGTGTGTGG GGAGGTGGGG GGATGGTCTG AAAACTCTCC CCCGGAGATA
6050
AATATATTCC TACCAGGGGT GCTGTCTCCT CACCTCCCTC TTTGGGAATC
6100
ACTGGCTTCT ACTAGAGTGG AAGACAGATG TATCATTAGA TCGATCAGTT
6150
GATCCATATT TATCTGCTCC CAGTCTGGAG GTCTGGTTCT GGGAG
C
TGAG
6200 |
var(6196):[T:0.34]
A
GGACACCAG GGGAGGATAA GACACTTTCT GACCAAGACA TTTTTT
T
GAT
6250 |
var(6201):[G:0.34]
|
var(6247):[:0.81]
CTCTCATCTT ATAAGGTTCG TGGTCACTTT GGGGAGATCA TATCTGTCAC
6300
CCAACATAAC CATATTATGA TAAGAGCCAA AAGTAGATAG GGTCAGTTCA
6350
CGTGCTTCGA GTTCACAGGG ACTATGGGTC TAAGGAGCCG GGGTGGAGGA
6400
AACAGACAT
C
GTCAATGGTG GCTTCACGGG AGGGAGATGG GATCTCAACT
6450 |
var(6410):[T:0.32]
GGGCCCTTGG AGGAGAAGCT GCCACGACCT CCCCCAACAC CTTGACATTA
6500
AATGAACAGA CACATGAATG AGGGGGAAAG GAAGACTAAT TGGGTCCCTG
6550
CAAGGTGGCT GGATCGGGGT CAGACCACAA GGCCGATCTC AGCGTCGCCT
6600
CCCCACTCTG CAGCCCCAGC ACAGGAAGTC ACACTTTAAA GCCTCCTCTG
6650
GCGGAAATTG TGGGGGAGTT GGAGGGGTGT TGGGCCACCC CCTCAACTGT
6700
CTCTCCACAG GCACCCCAGC TTCCTGCCCT TCTGCTCCAG GCTGGAGTCT
6750
GGGCCTAAAG AGCTCACCTC CTGTTTCTCC TGTTTTGCTT CATTTACGCA
6800
ACTGCTGAGG ACTGGGCTTA CTGGGGCCAG CTGGTGCCAG CAGTGGTGCC
6850
CAGTGGTGGG GAGTCTGAGG GCCCTGGCTC CTAGGGATCA GAGAGGGCTG
6900
ACCTGGAGCA TTCTGGGGGC CA
G
GGGAAGC CTAGGAAGCA GGGCTG
G
TTC
6950 |
var(6923):[T:0.01]
|
var(6947):[A:0.01]
TTCCATCCGG CATCCCTTCT TGCCTGCTCC CTCGTTCCTG GAAGTGGGTG
7000
TTCAGGGCTC TGGAGGCTTT CCTGTATTGC CAGTGGGCTT GGGGAGGGTC
7050
TGTGGAGACT CAGAACTGGC CTTGTTTCCT AAGGATTGTC TGGGGACCCC
7100
AGGGAGGCCC CCAAACCCAG CACAACTGGT CAGAACCAGC CAGGCTGTGG
7150
GAATGCGGTG AACCCAGGGT GGGAGGGCAG CCTTGGCTTG CTTCCTGCTG
7200
GGAC
G
GGGGA GTGTTGGGGG ATGGAGTGAG AGCTCACGGA ATGGGTTTAG
7250 |
var(7205):[T:0.28]
CTGTTGGAGA CTTGTTGAAC TGGGAGGAGG AGCTGGGGCG GGGCCTCA
G
C
7300 |
var(7299):[A:0.02]
TAAAGGCCGC TGAGGGGCTA GGAGGAGCCA AGTGGCCCTC AGGGAAGGGA
7350
GGGCACAGAC CTGATGGGCG GAAGCCAGGG TCGAGGGAGA CTTCCCTTCG
7400
GGATGGAATG GGGAGAGGGA GGCATTTC
C
C GGAACATGTG GGCCAAGTGG
7450 |
var(7429):[T:0.01]
GACAAGGGTC TGTGGCCTGG CTCTTTGCAT GGGGAGGGGA TGGATGGGGG
7500
TTGAGTGGGG ATGGGAA
G
GA GGGACTTGGC CATAGGAAGA AGGGATTAGA
7550 |
var(7518):[A:0.01]
TGGAGTCCCA CTTGCATGCA GGCTGGTGCC TTCTGCCTTT CTGCTGACTC
7600
ATGACCCTTG AGGAGCTGGG GAAGCTGCTA GTTCCCTCTC CCCTCCCTAG
7650
GTCTCCCTCC CTCTGGCCTG AGTCACTGGG GCGGAGTTGC TGGGAAAAGA
7700
TTTCCCTTTC CCGGATCTGA CTTAACCCCC AGAGTGCTGG AAAGAGAAGG
7750
GAACACGTGG CCTGAGAAAG CCTCT
C
TCCC TCCCTCCCTC CAGGGAGGCT
7800 |
var(7776):[T:0.05]
CATCCCCCAC TGGCCAGAGG TCCCTGAAAA GCTCCCTTTA AGGCTGTCTG
7850
GGGCTGGCGT CCCCCAGTTC TTCATCATGA CTCTGCCTCA AGCCCCCTGG
7900
ATGGGATTCA
A
A
G
T
A
C
C
A
G
T
G
A
C
C
T
T
A
G
G
T
G
C
T
C
C
A
G
T
G
G
C
T
T
C
T
T
C
G
G
G
7950 |
NOT SCANNED
G
A
A
A
G
G
A
A
C
C
A
C
A
C
T
T
T
C
A
G
G
A
C
T
G
G
G
A
A
G
T
T
C
T
T
C
C
C
A
T
C
A
C
C
A
C
C
C
C
A
8000 |
REPEAT
A
A
C
C
C
T
T
C
C
T
G
T
T
G
C
C
C
T
G
G
A
A
G
C
C
C
C
A
G
T
C
C
T
G
T
T
C
T
C
A
G
C
A
G
A
G
G
T
G
G
8050
C
A
C
G
G
T
G
T
T
G
G
C
T
G
G
T
G
C
G
G
G
C
A
G
G
G
G
A
A
G
G
T
T
G
T
T
G
T
C
C
T
C
T
G
A
G
C
A
G
G
8100
G
G
C
A
C
A
C
G
C
C
T
C
C
A
C
C
T
G
C
G
G
G
G
G
C
T
G
C
T
G
T
T
G
T
G
T
T
T
C
T
G
T
G
T
G
T
G
G
C
T
8150
T
C
C
C
C
T
G
T
T
T
G
C
G
G
C
T
G
A
G
G
C
T
T
G
A
A
C
T
T
C
C
G
G
G
C
C
T
G
C
A
C
A
G
C
T
TACAG
8200
CTGCAGCGTC TCCCCGTGGC TGACTCAGGG TGACTGGCCT CCTGCTCCGA
8250
AATGTGGAGT TGGTGAGGCT GGGTGGCTGT GGGCTGCCTG ACCCTCCTTC
8300
CCTGCCCTAG GGTTTCTGTG ATCTGGTGAG TCAGTTGCTC CCCAGTGTTT
8350
AACAGACATT GAGGACACCC TCTTATCTTT ACACAAAGTG TCTCTTATAG
8400
TAGAAAAAAA AAATGAAGCC CAGGGAAAAC CAGAAATGAA GCTGGCAGAG
8450
ATCAAAGTCC AAGTTAGAGC TAAATATTCA CTCCTGGCTT TGCTTTCCTG
8500
GCACTGATGC CGGAACAGGA CAAGCCATTT AGCTGCTGTG GGGTTGGCCT
8550
GAGACTGCAA AGCACACCTT CCAGAATGCC ATGGTGTGCA GGGGGCTCCA
8600
GGACTCCCCA GCACGCCCTC AGCTCTGACC TGACAGTCAT CCAAGCTGGG
8650
TCGCTAGCCT TGGCCAGCTC TATTTGCCTA TGTCCTGCAC ACCTTTGCCC
8700
ACTCCTGCCC CCGTCTCAAC TTTGTC
C
CCC GTCTACCCAT GCAGGATCCC
8750 |
var(8727):[G:0.01]
CAACCTTTCC CTTTTACTCT CCTCCCCATT TGTCCTTGCC AACCCCGGGT
8800
GTTTGTAAAT TTTGAGGTGG AGGGGATGGG CCAGGGAATG TGAGGGCGGA
8850
GGCAGATTGA GGTTTGATAC AAACATGTAA ATAAACTTCC TTCTTCTGTC
8900
CACTCCCCAG GAGTGGTGCT CACGGGAACA TCACTCGCCC CCACCGCCAG
8950
CTGACTTTTT CAGAA
A
G
C
T
T
T
T
C
A
T
G
G
T
G
T
A
A
C
A
T
A
T
T
C
C
T
G
G
G
A
T
G
T
G
C
9000 |
REPEAT
A
T
A
G
A
T
C
C
T
C
A
T
T
G
T
T
T
A
C
C
T
C
T
G
T
G
A
A
T
G
T
T
C
G
C
A
A
A
G
C
G
A
T
C
A
C
A
C
G
G
9050
T
G
A
A
C
C
C
A
G
C
A
C
C
C
A
G
A
T
G
G
A
G
A
A
A
C
A
CCG CCCCAATCTT TAGGGCTGCT
9100
TGTTGGAAGA AGGGGCCATC ACTGAAGTAA CCTGCCAATT CC
C
A
A
T
C
A
A
A
9150 |
REPEAT
|
var(9145):[G:0.02]
A
A
C
A
C
A
T
C
C
T
T
T
C
A
A
C
A
T
C
T
G
C
C
C
T
G
T
G
T
C
C
A
G
C
A
C
T
G
T
T
A
G
C
T
G
C
T
G
T
G
9200
G
G
G
G
A
T
T
T
C
A
C
A
G
T
A
A
G
G
A
T
A
A
A
A
T
A
C
A
G
G
G
C
T
G
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
9250 |
REPEAT
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
A
G
C
C
A
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
T
T
T
9300
T
G
A
G
A
C
C
A
G
T
C
T
G
A
G
C
A
A
C
G
T
A
A
C
A
A
G
A
C
C
C
T
G
C
C
T
C
T
A
C
T
A
A
A
A
A
T
A
A
A
9350
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
T
C
A
C
G
G
C
C
G
T
A
G
T
C
C
C
A
G
C
T
A
T
T
C
A
G
9400 |
var(9375):[G:0.22]
G
A
G
G
C
T
A
A
G
G
T
G
G
G
A
G
G
A
C
T
G
C
T
T
G
A
G
C
G
T
G
G
G
T
G
G
T
G
G
A
G
G
G
T
G
C
A
G
T
G
9450 |
var(9410):[A:0.01]
A
T
T
G
C
A
T
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
C
A
A
C
A
G
A
G
C
A
A
G
A
T
C
C
T
G
C
C
T
A
A
A
9500
A
A
A
A
A
A
A
A
A
A
T
A
C
A
G
C
T
T
A
G
A
T
C
T
G
G
G
G
C
C
T
A
C
T
A
G
C
T
T
T
G
A
G
T
T
G
A
G
G
G
9550 |
REPEAT
A
A
C
A
A
A
A
A
T
G
A
A
C
A
C
A
C
A
G
G
A
C
A
A
C
T
A
G
A
G
A
A
C
A
A
T
T
A
A
G
C
A
T
C
A
G
A
T
T
G
9600
T
ATGGCCCCA ACTGTCTAAG TTTCAAGGAA GAACTCTAAA CTTAGTGAGT
9650
GGCGTGGCCT GGGCGGAATG TTTCACTGAG GAAGGACTTG AGCCAGGGAA
9700
GTTTTAGATC TGCTACCCCT AAGCTTCCCA TCCCTCCCTC TCTTGATGGT
9750
GTCTCCTCTA TCTGATTCTT CCCCAG
G
T
G
C
T
C
C
T
G
G
A
G
C
T
G
T
T
G
G
T
G
G
G
A
9800 | Exon 2
V L L E L L V G 21
A
T
A
T
A
C
C
C
C
T
C
A
G
G
G
G
T
T
A
T
T
G
G
A
C
T
G
G
T
C
C
C
T
C
A
C
C
T
A
G
G
G
G
A
C
A
G
G
G
A
9850
I Y P S G V I G L V P H L G D R E 38
G
A
A
G
A
G
A
G
A
T
A
G
T
G
T
G
T
G
T
C
C
C
C
A
A
G
G
A
A
A
A
T
A
T
A
T
C
C
A
C
C
C
T
C
A
A
A
A
T
A
9900
K R D S V C P Q G K Y I H P Q N 54
A
T
T
C
G
A
T
T
T
G
C
T
G
T
A
C
C
A
A
G
T
G
C
C
A
C
A
A
A
G
GTAGGGGCAA GTGGAAACGG
9950
N S I C C T K C H K 64
TGAATGCCCT CAGGTCTGGG GTGCTGCTTC TTTCTCTGCT TCTTCCAGTT
10000
GTTCTTCCCT AACTTTGCTG TCTCTCCTGG GCTGGGATTT TCTCCCTCCC
10050
TCCTCTCCTA GAGACTTCAG GGAATCGGCC CTGGCTGTTG TCCCTAGCAT
10100
GGGGCTCCTT CCTTGTGTTC TCACC
C
GCAG CCTAACTCTG CGGCCCCATT
10150 |
var(10126):[T:0.01]
CACAG
G
A
A
C
C
T
A
C
T
T
G
T
A
C
A
A
T
G
A
C
T
G
T
C
C
A
G
G
C
C
C
G
G
G
G
C
A
G
G
A
T
A
C
G
G
10200 | Exon 3 |
var(10186):[T:0.07]
G T Y L Y N D C P G P G Q D T 79
A
C
T
G
C
A
G
G
G
A
G
T
G
T
G
A
G
A
G
C
G
G
C
T
C
C
T
T
C
A
C
C
G
C
T
T
C
A
G
A
A
A
A
C
C
A
C
C
T
C
10250
D C R E C E S G S F T A S E N H L 96
A
G
A
C
A
C
T
G
C
C
T
C
A
G
C
T
G
C
T
C
C
A
A
A
T
G
C
C
G
A
A
A
G
G
GTGAGT GTGCACAGGC
10300
R H C L S C S K C R K 107
AGGAGAGTCA GGCGGGTCTT GAGTGGTGTG TGGGTGCCTG TCTATGTGCA
10350
GGCTGGTGGG TGTGGGCAGG AAGGTGTGTG TTTTGGTGGG ACACTGCATG
10400
GATGTGAGTG TGTATTACAG AGACACACAC TTAGGGGTAT GTCAGGAAGG
10450
GGATGCAGGG ACAGGAGGAT GCAGGACTCA TACCCCATCT TCTCCCCTCA
10500
CCAG
A
A
A
T
G
G
G
T
C
A
G
G
T
G
G
A
G
A
T
C
T
C
T
T
C
T
T
G
C
A
C
A
G
T
G
G
A
C
C
G
G
G
A
C
A
C
10550 | Exon 4 |
var(10544):[A:0.03]
E M G Q V E I S S C T V D R D T 123
C
G
T
G
T
G
T
G
G
C
T
G
C
A
G
G
A
A
G
A
A
C
C
A
G
T
A
C
C
G
G
C
A
T
T
A
T
T
G
G
A
G
T
G
A
A
A
A
C
C
10600
V C G C R K N Q Y R H Y W S E N 139
T
T
T
T
C
C
A
G
T
G
C
T
T
C
A
A
T
T
G
C
A
G
C
C
T
C
T
G
C
C
T
C
A
A
T
G
G
G
A
C
C
G
T
G
C
A
C
C
T
C
10650
L F Q C F N C S L C L N G T V H L 156
T
C
C
T
GTGAGC GCAGCTCTCC TGAGGCCAAG CCCTCTCCCC ACCCCAGGGG
10700
S 157
TTGGCCCCTT CCCCATG
C
GG TGGCACTTCC TTTCC
T
TCCC CCTCCTGTAT
10750 |
var(10718):[T:0.01]
|
var(10736):[G:0.01]
TCTGTGGGTC TGACAACCAA CTCCTCTCTG GCCGCCCCCA CCCTGTCCCT
10800
CGTCACTTCC TCTGTCCTGT GGGGTGGGGG TGCAGGCGCT
C
CTCCTTTAG
10850 |
var(10841):[T:0.21]
CTGTGCCGCA CTTCTCCCTA CAG
G
C
C
A
G
G
A
G
A
A
A
C
A
G
A
A
C
A
C
C
G
T
G
T
G
C
A
10900 | Exon 5
C Q E K Q N T V C 166
C
C
T
G
C
C
A
T
G
C
A
G
G
T
T
T
C
T
T
T
C
T
A
A
G
A
G
A
A
A
A
C
G
A
G
T
G
T
G
T
C
T
C
C
T
G
T
A
G
T
10950
T C H A G F F L R E N E C V S C S 183
A
A
GTGAGTAT CTCTGAGAGC TGCTGGGCAC TGGATGGTGG CATGGGTTGG
11000
N 184
GACGGGTGAC TGGTGGGAAC CATTAGCTGG GCAACAGATG CCAGGATGCC
11050
CCAGAGTGCT CAGGGTCCTA CTGGCTGAGT AGGAGACACT TCGTTAAGAC
11100
ACCAGGCAGT CCTTCCCCTT GCTCTTCAAA TCTGAAGAAG TCTTTGAGGA
11150
TGGAAGATCA TGCCCCAAGG GCTGGCAGCC CTTCC
A
ACTC AGATATGTAG
11200 |
var(11186):[G:0.07]
ATTCTTGGAT CTACGA
T
A
G
C
T
C
A
T
T
G
G
T
T
C
T
A
G
G
A
C
A
T
A
C
A
C
T
C
T
T
A
T
A
G
11250 |
REPEAT
C
T
C
T
G
A
A
A
T
C
A
A
A
C
C
T
C
C
T
A
T
A
A
C
T
G
G
T
G
A
C
T
C
A
T
C
A
T
G
G
T
T
G
A
A
T
T
G
G
C
11300
A
G
C
T
C
T
G
T
T
T
G
C
G
T
C
T
G
G
G
T
A
G
T
A
A
T
G
T
A
A
A
G
A
A
A
A
G
T
G
C
C
T
T
T
T
A
T
T
C
T
11350 |
var(11327):[T:0.03]
T
G
A
T
G
G
C
G
T
C
T
T
A
G
G
T
T
T
G
A
T
G
C
A
A
T
A
T
G
G
TATTTCCTCA TTAGTCACTG
11400
TCCAGGCCTC CTTACTCCTG GCTCCACAGA GGCTGTTCTT GTCACTCACT
11450
TGC
A
A
A
G
A
A
T
A
A
A
C
T
C
T
G
A
G
G
G
C
T
C
T
C
A
G
A
G
T
T
T
G
A
A
C
C
C
C
A
G
C
A
T
A
G
C
C
11500 |
REPEAT
A
C
T
T
A
C
T
G
G
C
T
A
T
G
T
G
A
C
G
T
T
G
G
G
C
A
A
G
T
T
T
C
T
T
A
A
C
A
T
C
T
C
T
G
A
G
C
C
T
G
11550
A
C
T
T
T
T
C
T
T
T
T
G
G
T
G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
T
T
C
11600 |
REPEAT
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
G
T
G
G
T
G
C
A
A
C
C
G
T
G
G
C
T
C
A
G
C
C
T
C
C
11650
A
C
C
T
C
C
A
G
G
G
C
T
C
A
A
G
C
C
A
T
C
C
T
C
T
T
G
C
C
T
T
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
11700 |
var(11678):[T:0.09]
A
T
T
A
G
A
G
G
C
A
C
A
C
A
C
C
A
C
T
A
C
A
C
C
C
A
G
C
T
A
A
T
G
T
T
T
T
A
C
T
T
T
T
T
G
T
A
G
A
G
11750
A
C
A
G
G
G
T
C
C
T
A
C
T
A
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
C
C
T
C
G
G
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
11800
C
G
A
T
C
T
T
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
C
G
G
C
A
T
G
A
G
C
C
A
11850 |
var(11839):[G:0.43]
C
C
A
C
G
C
C
T
G
G
C
C
T
G
G
G
C
C
T
T
A
G
A
T
T
T
C
T
T
A
T
A
T
T
T
A
A
A
G
T
A
A
G
C
A
T
A
A
T
G
11900 |
REPEAT
A
C
A
T
T
C
A
T
T
T
G
G
T
G
A
A
T
T
T
G
T
G
A
G
A
A
C
C
A
A
A
A
A
C
A
A
A
G
A
A
A
C
A
A
A
C
A
A
A
A
11950
C
C
T
A
C
A
A
C
A
C
G
T
C
T
G
A
C
A
C
A
AAACTATTTA TTTTCCATTA A
T
C
T
T
C
T
T
T
T
12000 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
C
A
C
A
G
A
G
T
C
C
T
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
12050
G
G
A
A
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
G
A
T
T
12100
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
G
12150
T
G
C
C
A
C
C
A
T
G
C
C
T
G
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
12200
C
C
A
T
C
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
T
G
C
12250
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
C
C
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
A
G
C
C
GGCTT
12300
CATCTCTTCT TGAAATCACT TTTATACCAT TCTATGTGGT TCTCACCATG
12350
AGCTTGAGTG GTGGGCTAAA GTGCCTCTCC CTGCTTTCAG CTTCCTGCTG
12400
GGAACTCACT CTCTCAAGTT CCTTCCAGCA CCACCCCATA GAGTTCCCAT
12450
CACTCCACAC TGTCCAGTGA CAACTCCCAA CATGGAAGAT CTGCTAGTTC
12500
T
A
CAGGGTGC TCTCTGGCTG CCCCAGTAAC ATGTGTTTTT AAATTTTTCA
12550 |
var(12502):[G:0.03]
CATGCATGTT TGACCCCGAC TCCC
C
G
A
A
G
T
C
A
G
G
T
A
C
T
G
T
A
A
C
T
A
G
C
A
G
T
12600 |
REPEAT
G
T
C
A
T
T
T
A
A
G
A
A
A
A
A
G
C
C
C
T
T
T
A
A
C
C
T
C
T
C
T
T
T
G
C
C
A
A
A
G
G
A
T
T
C
T
T
A
T
C
12650
A
G
C
A
A
A
A
C
A
G
T
G
A
T
G
A
A
A
C
A
A
C
A
A
T
C
C
C
A
T AACAGCTAGC TGGCTACC
T
T
12700 |
var(12679):[T:0.01]
|
REPEAT
C
T
C
A
A
G
C
A
C
T
T
A
T
T
A
A
A
T
G
A
G
G
C
A
T
A
A
T
G
A
T
T
T
T
G
C
T
T
A
A
T
C
C
T
C
A
A
T
C
C
12750
T
G
A
G
A
G
G
T
G
G
G
C
G
A
T
C
C
C
T
G
T
G
G
T
G
A
T
G
A
G
G
A
A
A
C
C
G
A
G
G
C
T
T
G
G
G
G
G
T
T
12800
A
A
T
G
G
C
T
T
G
C
C
T
A
G
A
T
T
C
A
C
A
C
T
G
C
T
A
G
C
C
A
A
G
G
A
A
T
G
A
A
C
T
G
G
A
A
T
T
T
A
12850
C
A
C
C
C
T
G
A
C
C
C
T
G
A
C
T
G
C
T
T
T
T
C
A
C
A
T
T
T
T
C
T
A
C
A
C
A
G
C
C
TTTTCAAGAT
12900
CCCTGCCAAT TCTAAAATTA AATGATTCTA TGATTAACTG TGTTTCATTC
12950
TTCTGCATCA GTTCCCAAAA CAAATTATAT CAAGAGACAG CAAAAATATT
13000
TGTAAAGAAA GGATGTCCAA CAATCTGTGT GGTTGTTTTT CTGTGTTCCT
13050
CCAATGGTAG GGCCTCTGTT CACCAGTGCC GTCTCTTCTT TTAG
C
T
G
T
A
A
13100 | Exon 6
C K 186
G
A
A
A
A
G
C
C
T
G
G
A
G
T
G
C
A
C
G
A
A
G
T
T
G
T
G
C
C
T
A
C
C
C
C
A
G
A
T
T
G
A
G
A
A
T
G
T
T
A
13150
K S L E C T K L C L P Q I E N V 202
A
G
G
G
C
A
C
T
G
A
G
G
A
C
T
C
A
G
GT GAGGAGA
A
GT GACCTGGTGC CCATGCTCAC
13200 |
var(13178):[G:0.45]
K G T E D S 208
CTGCCCTCTC CCTCTTCTTG CCCCCACCCG TCCATCCATC CCACCCATCC
13250
ATCTATCCCT GCGGCCCCCC TCTGCCCGCT
C
CTCTGACCA ACACCTGCTT
13300 |
var(13281):[T:0.02]
TGTCTGCAG
G
C
A
C
C
A
C
A
G
T
G
C
T
G
T
T
G
C
C
C
C
T
G
G
T
C
A
T
T
T
T
C
T
T
T
G
G
T
C
T
T
13350 | Exon 7
G T T V L L P L V I F F G L 222
T
G
C
C
T
T
T
T
A
T
C
C
C
T
C
C
T
C
T
T
C
A
T
T
G
G
T
T
T
A
A
T
G
T
A
T
C
G
C
T
A
C
C
A
A
C
G
G
T
G
13400
C L L S L L F I G L M Y R Y Q R W 239
G
A
A
G
T
C
C
A
A
G
C
T
C
T
A
C
T
C
C
A
T
T
G
GTGAGTG GGGGCTTTGG GAGGGAGAGG
13450
K S K L Y S I 246
GAGCTGGTGG GGGTGAGGGA GGACATGGGT GGGTGCGATG GACATGTGTG
13500
GAGGGAGGTG AGGAGTGTCC CCTCAGTTCA TACCGCTGGG GACTCTGGGC
13550
AGAAGGTGGC CCTGGATGGC TGGGGAGATG TCGAGCTGCA TCAGTAGCTC
13600
TCTCGTCCCT GGGGCCACAT AGGCCCTGAG GCATGTCACC ACAAGTCCCC
13650
ACTGCCAGCT GAGTCCAGGG TGCCAGGGCT GAGAGAGGAA GTGAAATTTA
13700
TGATGCTTTC TTTCTTTTTC CTCAG
T
T
T
G
T
G
G
G
A
A
A
T
C
G
A
C
A
C
C
T
G
A
A
A
A
13750 | Exon 8
V C G K S T P E K 255
A
G
A
G
GTGAGA TGAAATGAGA GAGTTACTCC CAAATGTCCC TGACCATTCC
13800
E 256
TTATAATTGC CTAATGCTCA GATCCCCTGG AATCATCCTT CACTTTCCGG
13850
GGGCTCGCCT CATTCCCTCT AAGTCCCAAC CCCCACGTAG AATAAAGA
G
G
13900 |
var(13899):[T:0.06]
|
var(13900):[T:0.06]
GCCGGGGCTG GTTTTCGCTG CCGCACTAAT GCTGCGCCAC CTTCTCTCTT
13950
TCAG
G
G
G
G
A
G
C
T
T
G
A
A
G
G
A
A
C
T
A
C
T
A
C
T
A
A
G
C
C
C
C
T
G
G
C
C
C
C
A
A
A
C
C
C
A
A
14000 | Exon 9
G E L E G T T T K P L A P N P 271
G
C
T
T
C
A
G
T
C
C
C
A
C
T
C
C
A
G
G
C
T
T
C
A
C
C
C
C
C
A
C
C
C
T
G
G
G
C
T
T
C
A
G
T
C
C
C
G
T
G
14050
S F S P T P G F T P T L G F S P V 288
C
C
C
A
G
T
T
C
C
A
C
C
T
T
C
A
C
C
T
C
C
A
G
C
T
C
C
A
C
C
T
A
T
A
C
C
C
C
C
G
G
T
G
A
C
T
G
T
C
C
14100
P S S T F T S S S T Y T P G D C P 305
C
A
A
C
T
T
T
G
C
G
G
C
T
C
C
C
C
G
C
A
G
A
G
A
G
G
T
G
G
C
A
C
C
A
C
C
C
T
A
T
C
A
G
G
G
G
G
C
T
G
14150
N F A A P R R E V A P P Y Q G A 321
A
C
C
C
C
A
T
C
C
T
T
G
C
G
A
C
A
G
C
C
C
T
C
G
C
C
T
C
C
G
A
C
C
C
C
A
T
C
C
C
C
A
A
C
C
C
C
C
T
T
14200
D P I L A T A L A S D P I P N P L 338
C
A
G
A
A
G
T
G
G
G
A
G
G
A
C
A
G
C
G
C
C
C
A
C
A
A
G
C
C
A
C
A
G
A
G
C
C
T
A
G
A
C
A
G
T
G
A
G
T
T
14250 |
NOT SCANNED
Q K W E D S A H K P Q S L D 352
T
C
T
C
C
C
G
C
G
G
C
T
G
G
A
G
A
C
G
A
G
G
A
G
G
C
T
G
G
G
G
G
A
G
G
G
C
C
G
G
G
G
G
A
G
C
G
C
G
G
14300
G
A
G
G
C
G
C
T
C
C
C
A
G
A
G
G
G
G
A
C
C
A
C
G
A
G
A
G
G
C
G
G
A
G
G
G
C
G
C
G
G
G
A
T
G
C
G
G
G
G
14350
C
G
G
G
G
C
C
T
G
G
G
G
T
T
G
C
C
G
C
C
C
G
A
G
G
C
T
C
A
C
C
G
G
C
C
C
G
C
G
T
C
C
C
C
G
C
A
G
C
T
14400 | Exon 10
T 353
G
A
T
G
A
C
C
C
C
G
C
G
A
C
G
C
T
G
T
A
C
G
C
C
G
T
G
G
T
G
G
A
G
A
A
C
G
T
G
C
C
C
C
C
G
T
T
G
C
G
14450
D D P A T L Y A V V E N V P P L R 370
C
T
G
G
A
A
G
G
A
A
T
T
C
G
T
G
C
G
G
C
G
C
C
T
A
G
G
G
C
T
G
A
G
C
G
A
C
C
A
C
G
A
G
A
T
C
G
A
T
C
14500
W K E F V R R L G L S D H E I D 386
G
G
C
T
G
G
A
G
C
T
G
C
A
G
A
A
C
G
G
G
C
G
C
T
G
C
C
T
G
C
G
C
G
A
G
G
C
G
C
A
A
T
A
C
A
G
C
A
T
G
14550
R L E L Q N G R C L R E A Q Y S M 403
C
T
G
G
C
G
A
C
C
T
G
G
A
G
G
C
G
G
C
G
C
A
C
G
C
C
G
C
G
G
C
G
C
G
A
G
G
C
C
A
C
G
C
T
G
G
A
G
C
T
14600
L A T W R R R T P R R E A T L E L 420
G
C
T
G
G
G
A
C
G
C
G
T
G
C
T
C
C
G
C
G
A
C
A
T
G
G
A
C
C
T
G
C
T
G
G
G
C
T
G
C
C
T
G
G
A
G
G
A
C
A
14650
L G R V L R D M D L L G C L E D 436
T
C
G
A
G
G
A
G
G
C
G
C
T
T
T
G
C
G
G
C
C
C
C
G
C
C
G
C
C
C
T
C
C
C
G
C
C
C
G
C
G
C
C
C
A
G
T
C
T
T
14700
I E E A L C G P A A L P P A P S L 453
C
T
C
A
G
A
T
G
A
G
G
C
T
G
C
G
C
C
C
C
T
G
C
G
G
G
C
A
G
C
T
C
T
A
A
G
G
A
C
C
G
T
C
C
T
G
C
G
A
G
14750 |
UTR
L R 455
A
T
C
G
C
C
T
T
C
C
A
A
C
C
C
C
A
C
T
T
T
T
T
T
C
T
G
G
A
A
A
G
G
A
G
G
G
G
T
C
C
T
G
C
A
G
G
G
G
C
14800
A
A
G
C
A
G
G
A
G
C
T
A
G
C
A
G
C
C
G
C
C
T
A
C
T
T
G
G
T
G
C
T
A
A
C
C
C
C
T
C
G
A
T
G
T
A
C
A
T
A
14850
G
C
T
T
T
T
C
T
C
A
G
C
T
G
C
C
T
G
C
G
C
G
C
C
G
C
C
G
A
C
A
G
T
C
A
G
C
G
C
T
G
T
G
C
G
C
G
C
G
G
14900
A
G
A
G
A
G
G
T
G
C
G
C
C
G
T
G
G
G
C
T
C
A
A
G
A
G
C
C
T
G
A
G
T
G
G
G
T
G
G
T
T
T
G
C
G
A
G
G
A
T
14950
G
A
G
G
G
A
C
G
C
T
A
T
G
C
C
T
C
A
T
G
C
C
C
G
T
T
T
T
G
G
G
T
G
T
C
C
T
C
A
C
C
A
G
C
A
A
G
G
C
T
15000
G
C
T
C
G
G
G
G
G
C
C
C
C
T
G
G
T
T
C
G
T
C
C
C
T
G
A
G
C
C
T
T
T
T
T
C
A
C
A
G
T
G
C
A
T
A
A
G
C
A
15050 |
var(15042):[A:0.06]
G
T
T
T
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
A
A
A
T
C
A
A
T
C
A
T
G
T
T
15100
A
C
A
C
T
A
A
T
A
G
A
A
A
C
T
T
G
G
C
A
C
T
C
C
T
G
T
G
C
C
C
T
C
T
G
C
C
T
G
G
A
C
A
A
G
C
A
C
A
T
15150
A
G
C
A
A
G
C
T
G
A
A
C
T
G
T
C
C
T
A
A
G
G
C
A
G
G
G
G
C
G
A
G
C
A
C
G
G
A
A
C
A
A
T
G
G
G
G
C
C
T
15200
T
C
A
G
C
T
G
G
A
G
C
T
G
T
G
G
A
C
T
T
T
T
G
T
A
C
A
T
A
C
A
C
T
A
A
A
A
T
T
C
T
G
A
A
G
T
T
AAA
15250
GCTCTGCTCT TGGAGACAGT GGTCTGTCGG GATGGGAGGT GGGGGCAGAG
15300
GCCCAGATCC TGAGGGGTGA GATGGGAAAA GCCCTGCACT AGGGCCAGGT
15350
AGCCCATCAC CATCACGCCA AGTGACAGAG GAGTAGCAGG
T
T
C
T
T
G
T
T
C
T
15400 |
REPEAT
G
A
A
C
A
C
C
G
T
C
A
T
C
T
G
T
T
G
C
C
C
A
A
G
C
T
G
G
A
G
T
G
C
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
A
15450
A
C
C
C
T
T
G
G
G
C
T
C
A
T
G
G
G
G
T
C
C
T
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
G
G
A
C
A
C
A
G
G
C
A
C
A
15500 |
var(15475):[T:0.10]
C
C
A
C
C
A
C
A
C
C
T
G
G
G
T
A
A
T
T
T
T
T
A
A
A
A
T
T
T
T
T
T
T
T
T
T
G
T
A
A
A
G
A
C
A
G
G
G
T
T
15550 |
var(15518):[C:0.01]
|
var(15536):[:0.79]
|
var(15549):[C:0.01]
T
C
C
C
T
A
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
G
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
G
G
A
T
C
C
T
C
15600
C
C
A
C
C
T
C
A
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
G
C
C
A
T
G
C
C
C
A
G
C
C
A
15650
GGGCAGTCA
T
TTTTATGCAC AACTTTCTGT GGGGCTCAGG TGCACCTATG
15700 |
var(15660):[C:0.03]
ATACATAAAT TTACAGTTCT TGATCCCCAA ACAGAGCAGG AGGCAGGGTG
15750
CCTGGGCCAG GCTTCCTTTG GGAAATGTGG TCCTTGAGGT AGAGTCAC
A
G
15800 |
var(15799):[G:0.14]
ATGCC
G
GAGG GTGACCAGCA CTACTGGGGA GAGATCTCCT CTGGGAGAGA
15850 |
var(15806):[A:0.01]
TGCATGCCAA AGGTCCTCTG CATTCCTCAT ACCTCTCTGA AAAGACAGGA
15900
GGGGGTGTTA GGCGACATTC AGTGGCAACG GGTGAGGGTC AGGTGAAGAG
15950
TGAGGCGGAG AGCCCTTCCT GCCTCAGCCC CTGTTCCTGC TTTGCCCTCT
16000
TTCTATACTA CACCCC
C
C
AC CACCATACAG ACATCCCCGT CTGCCCCCTC
16050 |
var(16017):[:0.45]
CCAGGCCAGC TTCCCTCCAG CACTTACGAT GCGGACAGAG GGGTGTCCAG
16100
CTGAATGATG TGGGGCCCCC GCATCCTCTG CAGCTGGGCC CGAGTCAGCT
16150
TCCGTGGCCT GCTGTCCCGG GGCTCCTCGG CCCCCTCAAT CCTTTGGCTG
16200
GCCAGCTCCT CCCGGATCTC TCTGAGCATG TCCTCAGCCC GCATTGGGCG
16250
CAGGGATGTG TGGCCAGCTT TCAGGAACAG AGGCCCCTCT TCTTCCTCCT
16300
CCCCTGAGGA CTCCCAGGGG CTTTCCCCGG CAGAGTCAGC ATGGGTTGGG
16350
GAGGAGGGAA GCTGGCCCCG AAGCCGGGCC CTGTGGAGTG TTTCCACCAC
16400
CACATTCCCT CGCTCGGAGG CCCCATCTTC TTCCTCAGAC CAGGTTGGTG
16450
GGTCTTCCTG GGGAAGACTG CCTCCTTTTA GGATTCCTTC CGGCAGTTCG
16500
GGGGCGCTTC GGCGTTGAGG AGCTTGGGGG TCGGGAGGGT GGGGACGCAG
16550
AGGGATGTCC CGGAGTTCCA GGGTGGAGAA GGTGAGGCGA GGGTCCCGCC
16600
GAAGGGCTCT TTGGCGTAGA CGGCTCAGTG GGGAGCGGGA CCCCGTGGGG
16650
GTGCCTGGGA TCAAAGTGCC GTAGCCAGAG TCTGAGGTAT CATCTGGCAC
16700
AAGGGGAGCA TCTTCATCTG TGTCTTCTGT CACCACCAGG TGGGGGATAA
16750
TGGTCGAGAA CTCAGGAGTC CTACAGTTAA TGGCAAAGAG TCAGATGCGT
16800
AGGGGTCAAG TTCAAG
T
C
C
A
G
G
G
A
G
T
T
T
C
C
C
T
T
G
A
T
C
A
C
T
A
C
A
T
C
C
A
G
A
A
16850 |
REPEAT
A
T
G
G
C
C
C
C
T
C
C
T
C
C
A
A
A
C
T
T
A
T
T
T
T
G
G
T
A
T
C
A
T
C
T
T
T
C
C
A
T
C
G
C
A
C
T
G
T
G
16900
A
T
T
G
T
T
T
T
T
C
T
C
A
T
C
T
G
G
C
T
G
G
C
T
A
G
A
T
T
T
T
A
A
G
C
T
C
C
T
A
A
G
A
G
A
G
T
A
C
G
16950
G
G
C
T
G
C
C
T
C
T
A
T
A
C
T
G
T
T
T
T
A
T
C
C
A
T
A
G
C
A
T
C
T
G
G
T
C
C
A
G
G
A
T
C
T
T
G
T
A
T
17000
C
G
A
G
T
G
G
G
T
A
G
T
C
A
G
G
T
T
T
T
T
G
C
T
G
A
G
T
G
G TTCCTGAACT TACCTGATAT
17050
TATCCTCAAT GATCGATTCT TCTTTTCTCC TTAAGCTGCT GCCAAGCAGT
17100
GGTGCTATCC TAGACGAACC TCACACTCCC CGGGGATTTG GCAGCTCTAA
17150
TATTCTGCAG ATCCACACCT ACCTTCACTC TCGAGCTTGC TCCTCTCACA
17200
GTGCTCCTGT GTGACTCTAG GCAGGCTAAC TCTGTAGGCT GTCTGTGCCC
17250
TATCCCCCAC CTCCAACCCA ACACGGCTGG TACCAACCTT CCGACCCAAC
17300
ACAGCTGGTA CCGAGCTTCC CTACCCTGCC CTACGCCTGC GTTCCTCTAT