IKBKE 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
GCGCGTCTGC CACTCATAGC ATCTGCCATG CCATCCTGGA CCTCCAGGCT
50
CCTGATGGGA
T
G
C
C
C
A
C
C
T
T
T
A
C
G
T
C
C
T
C
A
G
C
A
C
A
C
A
G
T
G
C
C
T
G
C
C
T
C
A
T
100 |
REPEAT
|
var(74):[A:0.07]
|
var(79):[G:0.05]
A
G
C
A
G
G
T
G
C
T
A
G
A
C
A
C
A
T
G
G
T
A
G
T
T
TCCTT TGAATGTGCT AAATATGCTG
150
GGAAAGAGAT TGACGGAGAG AGGAAAGTAA GAGTGCTGGT GAGGACCCAG
200
CAGGTTCATC AGGGAAAAAA GTGGGTAAAC ATTACGGATT GTCTAAGTTA
250
TGTAGCAAAC CTCGGTGCCC TAAAGCAACA AAGGCTGATT TCTCACCAAA
300
GCCAATGTCC CTTGTGGACC AGCAGGGGAA CTCTGCTCAG GACAGTCACT
350
CAAGGACCCA GACTAACAGA ATCACACTGC CAGAAAGCAG AGTTCTGGGA
400
GGGTCTTGCA TCAGGAAATA AAT
G
CTTTGG TGGGGAACTC ACATGCTCCC
450 |
var(424):[A:0.02]
CCTATCACAA AGTAACTAGG ATGTGCAGTT CTCCCATGTG CCAGGCAGGC
500
AGAAACCTGG GAAGACTA
G
G
C
T
G
G
G
T
G
C
A
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
550 |
REPEAT
G
G
C
A
C
T
T
T
G
G
G
A
G
A
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
G
G
A
G
G
T
T
G
G
G
A
G
A
T
C
T
A
G
A
600
C
C
A
A
C
C
T
G
C
T
C
A
A
T
C
C
A
C
C
T
C
A
C
C
A
A
C
C
A
C
A
C
A
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
650
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
AC
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
G
G
C
A
C
T
700 |
REPEAT
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
G
G
A
G
G
T
T
G
G
G
A
G
A
T
C
A
A
G
A
C
C
A
A
C
C
750 |
var(744):[T:0.14]
T
G
T
T
C
A
A
T
C
C
A
C
C
T
C
A
C
C
A
A
C
C
A
C
A
C
A
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
800
A
T
A
C
A
A
A
A
A
G
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
A
T
A
C
850
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
900
A
G
T
G
A
G
C
T
A
A
C
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
950 |
var(925):[T:0.39]
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
GCAAGCTGGG AAGACTGGGT G
G
AACATGAG
1000 |
var(992):[A:0.03]
GATCTCAGGC ACTCAGGCAC ATTCCTCCTG GTCCTGATGT GAGAAGTTGC
1050
AGCAACTCCT CCAGCTGGAG GTGTTATGGG GAGTTCTCTT TATCTGAGCA
1100
CTAGGCAGTT CTCAGCTCTG CTCCTGTTCT AGTGTCACTG TGGGAGGGGT
1150
GGGGCTGGCG GAGGAAACCA CCAGGTGTGG CCATGGGAAA GTCCCTCCAA
1200
CATTCTATAG AAACATGGAA TTTCCTGGTT TTAACCATTT CATATCCAAC
1250
TGCCATCTCT GAGCTGACCA GAGCAGGACA GACCCCTC
C
A GCCTCCTAGG
1300 |
var(1289):[T:0.02]
ACATTTGATG
C
GGGGCATCG AGTCCTGGCT GGGAAGTTGG CA
C
CTGGGTG
1350 |
var(1311):[T:0.18]
|
var(1343):[T:0.01]
CCAGCCCCAG CAGTCTCTGA AGAGCATGGG TAAATTACTG AAGTGTGTGG
1400
GCCTCCATGC CTTCAATGCC TTTCTGTAAA ATGCTTTCCA AGCTCCCAAA
1450
CAATTCCAAA TATATCCATG TCATCCAATC AACCCACAGA GTAGCTGTTA
1500
CTCTGCGGGT GAGTGAGCTG GCTGGGAGGG GCTGCATGCT GTGTGCTCAG
1550
GTCACACTGG AAGGCATCAG CTGGGTCCCC G
C
GCTTGCTC TCGGACCTCT
1600 |
var(1582):[T:0.03]
GCAGGCCTCC TGGGAAGGTG ACTCAGATCC AACTTCTAGG ACTGGATCGG
1650
CATAGCTCCC ACACTTCCTT GGGGTTCCTG GGTGTGGGAG CATGGACTTC
1700
CCAGGCAGCT TTCCACTTAG TTAACTTGCC CAACCTGC
T
C TGTTGACTCT
1750 |
var(1739):[C:0.02]
GGGAAGAGCC
C
TGAACTTCC CTGCTCCAGT GAACTGTGGG AGATG
C
CAAA
1800 |
var(1761):[T:0.02]
|
var(1796):[T:0.10]
ACAGCACCCA GCTGCCCATC AAGATTACCA GAAGGGCCCC AGTTCCTGGC
1850
TTCTCTGTGG CTCACACTCT GGTCCTATTG CCTACCCTTG GGAACTCAGA
1900
GCATCCTCTT TCTCTTTTCT GCTGAGCTGG TGGCTGCACC GAGTTGCCTC
1950
TGTCTCTTTA AGAGAGAAAG AGAGAG
C
G
A
G AGAC
G
GAAAT CAGGAAGTG
C
2000 |
var(1977):[G:0.07]
|
var(1979):[G:0.16]
|
var(1985):[A:0.02]
|
var(2000):[T:0.03]
G
A
G
A
G
A
G
C
T
G
A
G
A
G
C
C
A
G
G
A
C
T
C
A
G
T
G
C
T
G
A
G
C
T
T
G
G
T
G
T
C
C
C
A
C
C
G
C
C
A
2050 | Exon 1 |
UTR
C
A
A
G
G
A
G
G
C
A
G
G
G
A
A
G
A
A
A
C
C
C
A
C
T
A
G
T
C
C
C
A
G
C
T
C
C
T
G
G
G
G
T
G
G
C
A
C
A
G
2100
A
C
A
T
T
G
C
A
A
C
T
G
G
C
C
C
T
G
C
C
T
G
T
G
G
G
T
C
C
T
A
G
G
G
G
C
C
C
T
T
G
G
C
T
A
C
C
A
G
G
2150
A
G
G
C
T
A
A
G
A
A
C
A
C
T
G
C
T
C
A
T
G
A
A
T
G
A
C
A
G
T
G
A
G
C
C
C
T
G
A
A
A
G
C
T
C
T
G
G
G
G
2200 |
var(2152):[A:0.10]
|
var(2156):[T:0.01]
|
var(2178):[C:0.10]
G
T
G
T
C
A
C
C
C
A
G
T
C
C
C
A
C
A
A
G
C
C
T
G
C
A
T
C
C
C
C
T
G
C
A
G
T
G
G
A
G
A
T
G
G
G
GTGA
2250
GTGTGCAGCG TG
T
GGAGGGG GGTGGGGGTG GAATGAGGGG CCAGACAAGG
2300 |
var(2263):[C:0.16]
GGCAGCTGCA GGGCAGCTCA GCCGGGTGCA GGGGTGTGGG CTTGTTGGCA
2350
GCGGTGCTCT CACATAGAGC GTTGTGTGTG GCATGGAGGT GAGCCACCAC
2400
GGGCCAACCA CAAGCCCTCC CTGGGCTCTG CTTACCAACA CCCAAAGCCA
2450
GCGATCAGCA CCCAGCGCCT GCCCTCACCT TTC
C
CGGGGT CTTTCTCCCT
2500 |
var(2484):[T:0.01]
GGCCGGAGTC TCAGGAGTAG GAGACGCTGG GAAAGGCTCC CTGAACAGTT
2550
TGGGAATAGA GCTGGAAACC CCCAGCCCAG CCCTGTGGGG GAAGGTGACA
2600
AACAGGAAAG GGTTAAAGGG CTAGGGCCGG
C
GGCCTTTGA TGGAGGCTGA
2650 |
var(2631):[T:0.01]
GAAGCAACTG CACTGAGGGG CGCCTCTCAT CCGCCCTCCT CTTTCCGGTG
2700
TAG
C
T
C
A
G
C
T
C
C
T
G
G
A
C
G
T
G
C
C
A
C
A
G
A
C
A
G
A
A
A
G
C
A
T
A
A
C
A
T
A
C
A
C
T
C
G
C
2750 | Exon 2 |
UTR
C
A
G
G
A
A
G
A
G
C
C
T
T
T
G
C
C
T
G
A
C
T
C
A
G
G
G
C
A
G
C
T
C
A
G
A
G
T
G
T
G
G
G
GTAAGTG
2800
CACTTGGCCA CAGCAGAGCC CTGAGGAGGG AGGGGAGGGG AGAGGTGGGT
2850
GGGTGGTGTC TCACATGCTT CACTGTCCAC TGCTCATTCA TCCAACCACT
2900
GGCTGAGGGC CACTGAGCCC TTCTTTGCAC CAGGTGCTTG GGGTGGTGGG
2950
GGGAGGATCT GCAGAGCGTG CAGAGTTAAG CCAGATGTGC CACAACCAGA
3000
GCTCCCGGGC ACAGAATCCA GGGGCACACC GCTTGTCTGG GGGTCTGCGC
3050
TTTGCACCTC ACTGCCTATT ATC
C
CAGAGT CCTGAGCTGT TCCTTGCCCC
3100 |
var(3074):[G:0.01]
AGTATCAGAG CCCTTGGCCT TGATTTCAGC CTGCTGTGCT CCAACCCCAG
3150
CCCCAGCCCC CAGACCTGCT GGCTGCCTCC AGCCTCAGCG GGGAAAACCA
3200
GACCCACTCA TTCATGCTGA GCTACTGTGT TGTCTTCAGG AAGCCTCTCA
3250
GTACCTCAGT TGCTTCTGT
G
TAATGTCCGC TCCTACCTGA TCTGAAACTA
3300 |
var(3270):[T:0.01]
GGAGTTGACC AC
C
GATCTCT TCAAGGGGCC TCTGGCTCAA TGAAATGACA
3350 |
var(3313):[T:0.05]
TTATCAAGGA TTTGCATTTT TAAAAAAGAT TACACAGAGA AAAAGTTCAG
3400
AGCGAAGGAA CATAGGATTC CAGGCATGGC AACCCTCAGT TTGAGAACCT
3450
GTAAGATGTT AGAACACGAA GATGCCTTTT CTAGTCTAGC GTTATTTAAA
3500
AGTATTTAAG T
G
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
A
T
T
3550 |
REPEAT
T
T
T
T
G
G
G
G
A
A
G
C
C
C
A
T
G
T
G
G
C
C
G
G
A
T
T
G
C
C
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
3600
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
C
A
A
A
A
A
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
G
A
C
3650
A
G
C
C
A
G
G
T
G
T
G
G
T
G
G
T
G
C
A
C
A
C
C
T
A
T
G
G
T
C
C
T
A
A
G
C
T
C
C
T
C
A
G
G
A
G
G
C
T
G
3700 |
var(3676):[C:0.10]
A
G
T
T
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
G
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
T
C
A
T
G
3750 |
var(3748):[G:0.18]
A
T
T
G
T
A
C
C
A
C
T
G
C
A
C
C
C
C
A
G
C
C
T
G
G
A
T
G
A
C
A
G
A
G
T
G
A
G
A
C
C
T
T
A
C
G
T
C
A
A
3800
A
A
T
A
A
A
A
A
A
A
A
G
A
A
A
A
A
G
G
A
A
A
A
A
G
A
A
A
GT ATTTAAAGGA TGGTGGCCCT
3850
TCTAATGCTT CTGTCCCCAG GTATCCCAAA AAGGCCAGCA CTGGCCTTAT
3900
TTTTCAAAGA GAAATTGAGT TTAACTTCTG AGGATACACT TTCTGGTACT
3950
AATTGCTTTA GGAGAACTAG GCTTTGGGGA AAAGATGAGG ACAAAGATGG
4000
GAAACAGAGT TGTAGGGGGT TTCAGATTCT CCCAATGGCT GAATGATGAA
4050
TTTTGCCTCC CCTATACCCT GCTCTCACAC ACACACCCAC ACCCTTCTCC
4100
CCAACGCCCT ACACACATAC ACACACACAC ACTCTCACAC ACACACACAC
4150
ACACACACAC TCTGAAGCAG CCCCATCTCT CTTGGAGCAG TACTGGCCCG
4200
GCTGTCAGCT CACAGCAGCA GGAAGTGGTG GGCCTGGCAG GCAGGCCAGC
4250
GGGGGCTGGG GGAGTGGCTC TGGACTC
A
TG TTGCAATCCT GGAGATTTGT
4300 |
var(4278):[C:0.01]
GGTGGTGTGG GAGATG
C
TCC CTGACCCTGG GCCCTTCCTC CTATACTGTT
4350 |
var(4317):[T:0.01]
TCTGTTTCCT GGGACAATCT CAAGCCTGGA TGCC
A
AAACC CCAGAATCTT
4400 |
var(4385):[G:0.02]
CAGTGCTGGG GAGAGGTGGT AGAGACAAGA GGTTTGTCTC TGCAGAATGA
4450
CCTGCCTCAG GAGGGGCTTC AAGGGAAC
T
T GGGGAGCCAG GACAGGCAGC
4500 |
var(4479):[G:0.14]
AGGTGGAACA GGTGC
C
G
GCT GTGGGCTGAG GG
C
TCAGTGG GGGC
C
C
T
C
T
T
4550 |
var(4516):[T:0.35]
|
var(4517):[T:0.01]
|
var(4533):[T:0.02]
|
REPEAT
G
T
T
G
T
G
C
T
G
T
G
C
G
T
C
C
T
T
T
T
G
G
G
G
A
A
G
T
T
A
C
T
T
A
A
C
C
T
T
T
C
T
G
T
G
C
T
T
C
A
4600
C
A
C
T
T
C
C
C
C
C
G
CTCCCTTGC TTGTGGAATG G
C
CACATGGA GCCCTTCTTA
4650 |
var(4611):[A:0.01]
|
var(4632):[A:0.35]
GGGTAGCCTT GGGGCACAGT TACAGGTCAG GCCACCAGC
G
GCCACCCTGT
4700 |
var(4690):[A:0.10]
GCCAGGAATG GAATCCTGGG CCCCCAGCAT GCTCTTTCTC TAG
G
C
A
G
A
A
G
4750 | Exon 3 |
UTR
G
T
G
A
C
C
A
G
C
C
A
G
C
T
C
A
G
G
G
C
A
G
G
A
G
A
T
G
C
A
G
A
G
C
A
C
A
G
C
C
A
A
T
T
A
C
C
T
G
T
4800 |
var(4760):[A:0.01]
M Q S T A N Y L 8
G
G
C
A
C
A
C
A
G
A
T
G
A
C
C
T
G
C
T
G
G
G
G
C
A
G
G
G
G
G
C
C
A
C
T
G
C
C
A
G
T
G
T
G
T
A
C
A
A
G
4850
W H T D D L L G Q G A T A S V Y K 25
G
C
C
C
G
C
A
A
C
A
A
G
GTAGGAAG
C
AACCCTGGC CAGGCCCTGT CCAGCCCAGC
4900 |
var(4871):[A:0.02]
A R N K 29
CTTGGCCCCC TCATGCCTCA GAAGCTGGCC CAGTCAGCCC CCAGTGGGCA
4950
TTGAGGGTGG TGGGACAGGG ACCTCTGGAT
G
TTGTGTAGC ACACTCATAC
5000 |
var(4981):[A:0.01]
TGTGGGTTTG AGCAGAGGCA TAGGGAGCTG AAAACGGCTC CTTGAGAGGA
5050
TGCCTCTGTC GGGCACGAGT TGGAGCAAGA GAACTGTGAA GTAACAAGGC
5100
AAACATCCGA GGAAGGTAAC AGCAAATGGA ATCTAGGAAT AGCAGAGTGG
5150
GGAATTAGGC CTTGTTTGGA TTTATCCTGC GAGAATGTAT GAGATGATAT
5200
CCACTCTGTC TTATTCAAGA GTGGTAGCC
G
G
C
C
G
G
G
C
A
C
G
G
T
G
G
C
T
T
A
T
G
5250 |
REPEAT
|
var(5240):[A:0.01]
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
C
G
A
G
G
T
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
C
A
5300 |
var(5277):[T:0.01]
|
var(5293):[T:0.04]
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
T
C
A
A
G
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
5350
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
G
C
G
T
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
5400
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
G
A
A
T
C
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
5450 |
var(5423):[T:0.23]
G
T
G
A
G
C
T
G
A
G
A
T
C
T
T
G
A
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
G
C
5500 |
var(5495):[T:0.02]
T
C
C
G
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
A
A
A
G
A
A
TTGGA GCCATACAGA
5550
CCAGGTTCCA ATCCCTTCCC TGCTGCTAAC CCCAGGGAGT G
T
TAGCTGCC
5600 |
var(5592):[G:0.31]
CTGTGATGAT TGTCAATAGC AATTGTAATA ATGACAACAA GCCATCCCCT
5650
GCAG
G
AGATC AGAGTGTCAG GATCTTGTCA
C
CTCCCAGTG CTGGACTCTC
5700 |
var(5655):[A:0.11]
|
var(5681):[T:0.02]
TACCCCTTGA GAGGGAAAGG C
G
GTGCGGAT GGGAGCCCCC AT
C
CAACCAG
5750 |
var(5722):[A:0.01]
|
var(5743):[T:0.01]
GCTAATCTCT GGGGTTGGGC TGGCCGGAGA GGCTGAATGG AGGCCCAGGA
5800
GAGGGTGGCT GCTCCCCTGT GGGAGTGGGA CATGTGCTAA TCCCATGCTG
5850
TCTCCCACTG CTCCCTCCCC AATGGCAG
A
A
A
T
C
C
G
G
A
G
A
G
C
T
G
G
T
T
G
C
T
G
5900 | Exon 4
K S G E L V A 36
T
G
A
A
G
G
T
C
T
T
C
A
A
C
A
C
T
A
C
C
A
G
C
T
A
C
C
T
G
C
G
G
C
C
C
C
G
C
G
A
G
G
T
G
C
A
G
G
T
G
5950
V K V F N T T S Y L R P R E V Q V 53
A
G
G
G
A
G
T
T
T
G
A
G
G
T
C
C
T
G
C
G
G
A
A
G
C
T
G
A
A
C
C
A
C
C
A
G
A
A
C
A
T
C
G
T
C
A
A
G
C
T
6000 |
var(5992):[T:0.10]
R E F E V L R K L N H Q N I V K L 70
C
T
T
T
G
C
G
G
T
G
G
A
G
G
A
G
A
C
G
G TAGGTCCGGT GCTTGGTCAG AGAATGGT
C
T
6050 |
var(6049):[T:0.01]
F A V E E T 76
TGTCCTTGAC CCTTATGGTC TGGGGAGAAT CAGGCCACAT GATAACAGAG
6100
ATTTGGTCCC ATGCTCATCA GCAGGTCAGA GACAGCAGGC AAATTGCAGA
6150
AGGGAGCAAA GGGG
G
CAA
G
G
G
GGTGGGGGC GGTGC
A
CTGG AAAGGAACGA
6200 |
var(6165):[:0.01]
|
var(6169):[A:0.01]
|
var(6171):[A:0.01]
|
var(6186):[G:0.09]
TGGACAGAAT CAGTACCTAA GCAGAGGGCT TCCTGGAATA A
G
TGACTTTG
6250 |
var(6242):[C:0.45]
GATTCCAGTG TGCGGGATCA GTGTGAGGCC AAGGAGGGAA GGCCAGGCCA
6300
GAAGCTGGGA CCTGGAGAAT GGGGGCTCTG GGCTCCAGGC TGAGCCACTT
6350
C
T
TCCTGGTG GGTGGGGAGG AGAAGTGCCG TCCTCATGAG CCCCTCTCTG
6400 |
var(6352):[G:0.24]
TCCCACCCAT AG
G
G
C
G
G
A
A
G
C
C
G
G
C
A
G
A
A
G
G
T
A
C
T
G
G
T
G
A
T
G
G
A
G
T
A
C
T
G
6450 | Exon 5
G G S R Q K V L V M E Y C 89
C
T
C
C
A
G
T
G
G
G
A
G
C
C
T
G
C
T
G
A
G
T
G
T
G
C
T
G
G
A
G
A
G
C
C
C
T
G
A
G
A
A
T
G
C
C
T
T
T
G
6500
S S G S L L S V L E S P E N A F 105
G
G
C
T
G
C
C
T
G
A
G
G
A
T
G
A
G
T
T
C
C
T
G
G
T
G
G
T
G
C
T
G
C
G
C
T
G
T
G
T
G
G
GTGAGCCC
6550
G L P E D E F L V V L R C V 119
CTCCCTGTCC CTGCCTCCAC CCTCAGACCA GC
A
GCAGGCC TGGGACAGAT
6600 |
var(6583):[G:0.47]
GCTGACAGGA CTCAGGTGTC TGACTCCTGC TAATC
A
T
T
C
C
A
T
T
T
A
A
A
A
T
T
6650 |
REPEAT
C
C
A
A
C
T
T
A
A
A
A
A
T
T
A
A
A
C
C
T
A
A
A
A
A
A
G
A
T
T
G
T
A
C
A
C
C
A
A
T
G
T
T
C
A
C
A
G
C
A
6700 |
var(6655):[T:0.02]
|
REPEAT
|
var(6700):[G:0.06]
G
C
A
T
T
A
T
T
T
A
C
A
A
T
A
G
C
C
A
A
A
A
G
G
T
G
G
A
A
A
C
A
T
C
C
T
A
A
C
T
G
T
G
A
A
A
A
C
A
A
6750
A
A
T
G
T
G
G
G
A
G
G
T
A
C
C
T
A
A
A
A
T
A
G
A
A
T
A
T
T
A
T
T
C
A
G
T
C
T
T
A
A
A
A
G
G
A
A
A
G
A
6800 |
var(6753):[C:0.02]
A
A
T
T
C
T
G
A
C
A
C
C
T
G
C
T
A
C
A
A
C
A
T
G
G
A
T
G
G
A
C
C
T
T
G
A
T
G
A
C
A
T
T
A
T
G
T
T
A
A
6850
G
T
G
A
A
A
A
A
A
G
C
C
A
G
A
C
A
C
A
G
A
A
G
G
A
C
A
A
A
T
C
C
T
G
T
A
T
G
A
T
T
C
C
A
C
T
C
A
T
A
6900
C
A
T
T
C
A
T
A
G
A
A
A
C
A
G
A
A
A
G
T
A
C
C
A
T
G
G
T
G
G
T
T
T
C
C
A
G
T
G
G
C
T
G
G
G
G
G
C
A
G
6950
A
G
G
A
G
A
A
T
G
A
G
G
A
G
T
T
G
T
T
T
A
A
T
G
A
G
T
A
T
G
G
T
T
T
C
A
A
G
T
T
T
G
A
A
G
A
A
T
G
A
7000 |
var(6974):[A:0.09]
G
G
C
C
G
G
G
T
G
C
A
G
T
G
G
C
T
C
A
T
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
C
C
A
7050 |
REPEAT
A
G
T
G
G
G
C
G
G
A
T
C
A
T
T
T
G
A
G
G
T
T
G
G
G
G
G
T
T
T
G
A
G
A
C
C
A
G
T
C
T
G
G
C
G
A
A
C
A
C
7100 |
var(7100):[T:0.02]
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
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
7150
G
G
T
G
C
A
T
G
C
C
T
G
T
A
G
T
T
C
C
A
G
C
C
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
A
G
A
A
T
C
G
7200 |
var(7200):[A:0.12]
A
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
A
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
C
A
C
C
A
C
T
G
T
A
7250
C
T
C
C
A
G
C
C
T
A
T
G
T
G
T
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
7300
A
T
T
G
G
A
G
A
A
T
G
A
G
A
A
A
A
G
T
T
C
T
A
A
G
A
T
G
G
A
T
G
G
T
G
T
G
A
T
G
G
T
G
G
C
A
C
A
G
C
7350 |
REPEAT
A
G
C
G
T
G
G
G
T
G
T
G
C
T
T
A
G
T
G
C
C
A
A
T
G
A
A
G
T
G
T
A
C
A
C
T
T
A
A
A
A
T
T
G
G
T
T
A
A
A
7400
A
T
G
G
G
A
A
A
T
T
T
C
G
T
T
A
T
G
C
A
T
A
T
T
T
T
A
C
C
A
C
A
A
T
T
G
A
A
CA CCTAATCAAA
7450
AGAAGTAATA CAAAGAGGGG TGCTGCCCTT GAGGACACAG AGCCACCACC
7500
CATCTTGGTT TCCTAGAGAA TCCAGATGGT ACCTCCATAC CCTAGTGTCC
7550
TTGAGATGCC CCCTAAGCCC CATGCA
C
G
TC TCTGTCCTTC TGCCTGTCCC
7600 |
var(7577):[T:0.37]
|
var(7578):[A:0.02]
ATGGCTCTGT CAGCC
C
ATGG GAACTCCTGT CTCTCTGGAT GCAAGGACAG
7650 |
var(7616):[T:0.05]
CCTTCCCACC AAGATGAGCC TCAGACACTA GACTGTCCCC GACCAGAGCC
7700
AGCTAGTGGC CTCCCCGTCT GTCCCCAG
T
G
G
C
C
G
G
C
A
T
G
A
A
C
C
A
C
C
T
G
C
G
7750 | Exon 6 |
var(7733):[T:0.06]
V A G M N H L R 127
G
G
A
G
A
A
C
G
G
C
A
T
T
G
T
G
C
A
T
C
G
C
G
A
C
A
T
C
A
A
G
C
C
G
G
G
G
A
A
C
A
T
C
A
T
G
C
G
C
C
7800 |
var(7752):[A:0.01]
E N G I V H R D I K P G N I M R 143
T
C
G
T
A
G
G
G
G
A
G
G
A
G
G
G
G
C
A
G
A
G
C
A
T
C
T
A
C
A
A
G
C
T
G
A
C
A
G
A
C
T
T
C
G
G
C
G
C
T
7850
L V G E E G Q S I Y K L T D F G A 160
G
C
C
C
G
G
G
A
G
C
T
G
G
A
T
G
A
T
G
A
T
G
A
G
A
A
G
T
T
C
G
T
C
T
C
G
G
T
C
T
A
T
G
G
G
A
C
T
G
A
7900 |
var(7886):[A:0.02]
A R E L D D D E K F V S V Y G T E 177
G
G
A
G
T
A
C
C
T
G
GTGGGTGAGC TGCTCGAGAC CCGCTGCCCT ATGCTGAGGG
7950
E Y L 180
CTCCCCTTGC CTTGTGAGCC CCCCAGAGCC CCCATGAGGG GGTGTGGCCC
8000
ACCTCCTGCT TCCACAGGAG TTATGTCTCT CCCCTGTACC CCAACCAGAA
8050
GAATGCATTC TGTTCTCTAA GATGGAAAAG GTGAGGCTGA CACCCATTTT
8100
TAAGATGACA AAGAAGGATT TGAACAGTTC TGTTT
T
CACC TGCAGGCGGT
8150 |
var(8136):[C:0.04]
GAAAGG
G
GGT CTGACAGGTC TCAGGCCCTT GCCAGCCCTC CGGCTCCATG
8200 |
var(8157):[A:0.42]
GCCTCATTCT GGTTCTCTCC GGCAG
C
A
T
C
C
C
G
A
C
A
T
G
T
A
T
G
A
G
C
G
G
G
C
G
G
8250 | Exon 7
H P D M Y E R A 188
T
G
C
T
T
C
G
A
A
A
G
C
C
C
C
A
G
C
A
A
A
A
A
G
C
G
T
T
C
G
G
G
G
T
G
A
C
T
G
T
G
G
A
T
C
T
C
T
G
G
8300 |
var(8270):[G:0.07]
V L R K P Q Q K A F G V T V D L W 205
A
G
C
A
T
T
G
G
A
G
T
G
A
C
C
T
T
G
T
A
C
C
A
T
G
C
A
G
C
C
A
C
T
G
G
C
A
G
C
C
T
G
C
C
C
T
T
C
A
T
8350
S I G V T L Y H A A T G S L P F I 222
C
C
C
C
T
T
T
G
G
T
G
G
G
C
C
A
C
G
G
C
G
G
A
A
C
A
A
G
G
A
G
A
T
C
A
T
GTAC GGTGGGCCAC
8400
P F G G P R R N K E I M 234
AGGGCAGGGA ATGGGGCGGA CTGGCAGTCC CCTGGCCCTT CCCCCACCGG
8450
TCCTTGCTGT GTCTTCTGGT CCCCTCACAC TCCATGGCCC TCCTCTGGTC
8500
C
ACCCCCCAA CCCAGGCTCT TTGTAGATCT TTTTTTGTTA ATGGGATCAA
8550 |
var(8501):[T:0.03]
ACAAGCAGCT GAGCTCTGCC CAGGGCTGAT GGGAGTCTGT GAATATGCTC
8600
TATGTTAGTT CGGTGCTTCA CTCTAGCCCT CTGCTCCCTT ACTGCTCTCC
8650
TCGTCTC
A
A
C
C
G
A
A
G
C
T
C
A
A
A
G
A
G
T
G
C
C
T
T
G
C
C
T
A
A
G
G
T
G
G
A
A
G
A
G
C
T
C
A
8700 |
REPEAT
C
C
A
G
G
G
G
C
A
A
A
G
G
T
G
G
C
A
G
C
T
T
C
C
T
G
T
T
C
C
C
A
G
G
T
C
C
A
A
G
G
T
C
T
T
T
C
CAT
8750
GGTTTTGTGC CATCGGACAG GGAAGTAGCA AGTGGCTGGA GACAGTAGCG
8800
GCTCCCTCTG AGTGCACAGC CCAGAGCAGA G
A
GAGATGTC AGCTGGCTTA
8850 |
var(8832):[:0.99]
GTGGGAAGGT TGCTGCACCC ACCTCAGCCC CGGGGTCCAG CTGTGTGGAA
8900
CCTATATCAG GCCCGCAAAA GGGGCAGAAG ACCAGCATGG ATGGGGGTTG
8950
TCAGGGAAGG CTGGACTCTG AAGGGAAAGA AAGAGGAGAG GATACTGGGG
9000
CCATGCATAG CATGGGCAAA GGTGTGGAGG AGGCTGGCCA GGCTGAGGGA
9050
AGTGTAGC
A
G
G
GGGGAGAGG CAGTGGACAG GGCAAAGGTG TCTCTACCTG
9100 |
var(9059):[:0.09]
|
var(9061):[A:0.01]
AAGCAAAGGG CTCCAGGAGG AGTGCTGAGG CAAGGCGCTC TCACAGCTGA
9150
GAGCCAGGTT TCTCACACTC CATCTGTCAG GCTACTTTGG GGTAGCTGGG
9200
TGACTTGAAC CT
G
TGCTCCG AGCCCTTTGT GCTGAGTGTG TCGTTGCCCG
9250 |
var(9213):[A:0.02]
GCAATGTGAT AGCTGGGGAT CCCGCTGACC TGGCCTTCCT CCCCGCAG
G
T
9300 | Exon 8
234
A
C
C
G
G
A
T
C
A
C
C
A
C
G
G
A
G
A
A
G
C
C
G
G
C
T
G
G
G
G
C
C
A
T
T
G
C
A
G
G
T
G
C
C
C
A
G
A
G
G
9350 |
var(9314):[A:0.16]
|
var(9350):[A:0.01]
Y R I T T E K P A G A I A G A Q R 251
C
G
G
G
A
G
A
A
C
G
G
G
C
C
C
C
T
G
G
A
G
T
G
G
A
G
C
T
A
C
A
C
C
C
T
C
C
C
C
A
T
C
A
C
C
T
G
C
C
A
9400
R E N G P L E W S Y T L P I T C Q 268
G
C
T
G
T
C
A
C
T
G TGAGTGGGAC CCTGCTGGGG GGTGATGCTG GAGTCTGAGC
9450
L S L 271
TGGGTGTCAC TTCTCTCTGC TAAGTCAAGA CTTCTGAGGC CTGTTCCAGC
9500
AGGTTCCGGG CATGCTGCAG GCTTGGGCAC ACCACTTTCC CATCTGGTTG
9550
CTGGAA
C
G
AG TTCTTCCAGC TCTTCCTCCC CAACCCACCC TGCCCCACCA
9600 |
var(9557):[T:0.16]
|
var(9558):[A:0.30]
TCTTGGTCCT AGCTCTTCAG GATATTCTCT TAGAACGCTC CTATTGCCTG
9650
CTTAAGGAGG ATAGGTCTGG GCC
C
CCACCC CTGACAGTCT CCATGTCCTG
9700 |
var(9674):[T:0.07]
GGAGGGCAG
G
G
G
G
C
T
G
C
A
G
A
G
C
C
A
G
C
T
G
G
T
G
C
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
C
C
9750 | Exon 9
G L Q S Q L V P I L A N I 284
T
G
G
A
G
G
T
G
G
A
G
C
A
G
G
C
C
A
A
G
T
G
C
T
G
G
G
G
C
T
T
C
G
A
C
C
A
G
T
T
C
T
T
T
G
C
G
G
A
G
9800
L E V E Q A K C W G F D Q F F A E 301
A
C
C
A
G
T
G
A
C
A
T
C
C
T
G
C
A
G
C
G
A
G
T
T
G
T
C
G
T
C
C
A
T
G
T
C
T
T
C
T
C
C
C
T
G
T
C
C
C
A
9850 |
var(9803):[T:0.02]
T S D I L Q R V V V H V F S L S Q 318
G
G
C
A
G
T
C
C
T
G
C
A
C
C
A
C
A
T
C
T
A
T
A
T
C
C
A
T
G
C
C
C
A
C
A
A
C
A
C
G TAAGTGGGGG
9900
A V L H H I Y I H A H N T 331
CGAGGGAGGG AAG
C
GGTGAG AACCTTCTCT A
C
CCAAGCAG CAGTGCATGT
9950 |
var(9914):[T:0.01]
|
var(9932):[T:0.07]
CCAAAGCAGC ATCTCCCACA GTACGTTCTG AGGAGTGTGT ACATAGGAAC
10000
GCTTCCAGGT CCAAA
C
GTAG TTGGGAAAAG ACTAGTTCTA CAAAGTTAAA
10050 |
var(10016):[T:0.01]
GCTAAACAGG TTTTCTTGCA TGTACTTCAG AGAGTCAGTA CCTTTTCTAA
10100
TGCTAATATG CATTATACAT CTGAGAAGTG TGTGCGTGGT GTATGTTGGC
10150
TGTACATTTC GTAAAGGTAC TGCTCATAGT ACCCTTGATT CCTGGATAAT
10200
TTTATAGAAC T
A
GGTAAATT TTAA
T
G
G
C
A
G
T
G
T
G
A
C
A
G
G
A
A
G
A
G
G
T
G
C
A
G
10250 |
var(10212):[G:0.03]
|
REPEAT
A
G
G
C
A
A
A
G
G
C
T
G
G
G
T
A
T
T
A
G
G
A
C
T
C
C
T
G
G
G
A
C
C
T
G
T
T
C
C
C
A
C
T
C
T
G
T
C
T
C
10300
C
A
T
C
A
C
T
A
T
A
A
G
A
TGTGAAC TCTCCCCTTG GTCTCTCCAC CCTTGATGAC
10350
AGAGAAAACC ACCCCCGTCC CTCCCTCTGC AAAACAGAGC CCTGTCTATG
10400
GGCAACGCTT AGCTGGGGCT TAGGTCACCC TAGCCCCCTG CCTTGCCTAC
10450
TGACACCCCC TGCCCTCTGC TCCCCACCAC GGCTGTGTCT AG
G
A
T
A
G
C
C
A
10500 | Exon 10
I A 333
T
T
T
T
C
C
A
G
G
A
G
G
C
C
G
T
G
C
A
C
A
A
G
C
A
G
A
C
C
A
G
T
G
T
G
G
C
C
C
C
C
C
G
A
C
A
C
C
A
G
10550
I F Q E A V H K Q T S V A P R H Q 350
G
A
G
T
A
C
C
T
C
T
T
T
G
A
G
G
G
T
C
A
C
C
T
C
T
G
T
G
T
C
C
T
C
G
A
G
C
C
C
A
G
C
G
T
C
T
C
A
G
C
10600
E Y L F E G H L C V L E P S V S A 367
A
C
A
G
C
A
C
A
T
C
G
C
C
C
A
C
A
C
G
A
C
G
G
C
A
A
G
C
A
G
C
C
C
C
C
T
G
A
C
C
C
T
C
T
T
C
A
G
C
A
10650 |
var(10611):[A:0.03]
Q H I A H T T A S S P L T L F S 383
C
A
G
C
C
A
T
C
C
C
T
A
A
G
G
G
G
C
T
G
G
C
C
T
T
C
A
G
G
G
A
C
C
GTGAGTA GAGCCACCTG
10700
T A I P K G L A F R D 394
GGCTGG
A
TCT TTCTCCTCCC CACATTTTCC
T
CTGAGACAG GAGTTTGCAA
10750 |
var(10707):[G:0.12]
|
var(10731):[C:0.29]
TCCAGGCCAT TGGTTACTTT TCTTTGTGGG TGTTTCTTTG GGGCC
A
C
A
G
G
10800 |
REPEAT
G
A
G
C
A
G
G
A
G
G
C
A
G
A
T
G
T
G
G
G
T
T
C
T
A
A
T
T
C
T
G
C
A
G
A
C
G
C
C
T
C
T
G
A
G
A
T
G
C
C
10850
A
C
A
T
G
A
C
G
T
G
G
G
C
T
G
G
T
G
G
C
T
T
G
A
C
C
T
C
C
C
T
G
G
G
G
C
T
T
A
C
T
G
G
C
A
T
C
C
T
C
10900
A
G
A
G
C
T
G
T
G
G
A
A
A
G
A
G
CTCC AGTGGAAACA GGGAGATCTG GATTT
A
ATGC
10950 |
var(10946):[G:0.02]
ACTTTCCATA ATCTCTGATT TGTGGGGAAG CCTCAGGCAG TTTGTGTTGG
11000
AAGAAGCCCA AGTCTGAGCT CCTGGAAAGA AGGGAAGGGG GTCGGGGTCC
11050
AGAGCTTGGG CCTCTCTCCA AACTCTAGCA AAAATGTCCT TTCTTCTCAC
11100
TTGAACAGTG CAAGTTTTAT CCTCTTTCTC TGAGGCTAGG AAGGGGTATT
11150
CACCTCAAAA CCTGTGGACA AGAGGGTGAT TTAGTCCATT TTCAGCTCTT
11200
GGACATGAGG AGGTA
G
TTCT CAAAAGTGGC CGCAAGGTGG CAGTGAGGGA
11250 |
var(11216):[T:0.01]
TCACAACTTT AAGTGTGGCT AAGGCTGGCA AGGTGGGAGG CTCAGGGTGA
11300
GTT
G
TGAAGC CTGAGGTGGG A
G
ATTGGCAG TGAGGGGTGA GTGTGAGCTG
11350 |
var(11304):[T:0.01]
|
var(11322):[A:0.01]
GAAATAATGA AAGATAAGCC GACCCAGCAC CATACAGGCA GGCCCCTCAG
11400
ACAGGGTCTT TGTCTGCAG
C
T
G
C
T
C
T
G
G
A
C
G
T
C
C
C
C
A
A
G
T
T
C
G
T
C
C
C
C
A
A
11450 | Exon 11
P A L D V P K F V P K 405
A
G
T
G
G
A
C
C
T
G
C
A
G
G
C
G
G
A
T
T
A
C
A
A
C
A
C
T
G
C
C
A
A
G
GTGAGG GGCAACCCCC
11500
V D L Q A D Y N T A K 416
AGGTGGCAGG GAGGGGCATG ACCCAAGGGT AGGAGGTGTG GGACCTGGCC
11550
CTGTGCATCT CTGTGTTTCA G
G
G
C
G
T
G
T
T
G
G
G
C
G
C
C
G
G
C
T
A
C
C
A
G
G
C
C
C
T
11600 | Exon 12
G V L G A G Y Q A L 426
G
C
G
G
C
T
G
G
C
A
C
G
G
G
C
C
C
T
G
C
T
G
G
A
T
G
G
G
C
A
G
G
A
G
C
T
A
A
T
G
T
T
T
C
G
G
G
G
G
C
11650
R L A R A L L D G Q E L M F R G 442
T
G
C
A
C
T
G
G
G
T
C
A
T
GTGAGTA ATCATGAGGG CTGGGCACAG AGGGGGAGGC
11700
L H W V M 447
GGGCAGGAGA GGGAGGC
G
GA CAGGAGGGGG AGTGGGCAGG AAGGGGAGAT
11750 |
var(11718):[T:0.02]
GGGTGGGGGG TGGGCAGGAA GTGGAGGTGA GCAGGAGGAG GGGGTGGGCA
11800
GGAGAGGGAG GTGGGCAGAG AGGGGGAGGC GGGCTGGAGG GGGAGGCGGG
11850
CTGTAGGTGG AGGCAGGCCG GAGGGGGAGG CAGGCCAGAG GGGGAGGCCG
11900
GCAGGAGGTG GAGGCCAGTA TCCTGGGATG CTGTCTGCAT GCACGGTGCT
11950
GAGTCCCCCG ATCAAGGCAG CTCTGACTCA GTCTCCCCTT GGACAG
G
G
A
G
12000 | Exon 13
E 448
G
T
G
C
T
C
C
A
G
G
C
C
A
C
A
T
G
C
A
G
A
C
G
G
A
C
T
C
T
G
G
A
A
G
T
G
G
C
A
A
G
G
A
C
A
T
C
C
C
T
12050
V L Q A T C R R T L E V A R T S L 465
C
C
T
C
T
A
C
C
T
C
A
G
C
A
G
C
A
G
C
C
T
G
G
G
A
A
C
T
G
A
G
A
G
GTGGGTG TTCGCCTCAG
12100
L Y L S S S L G T E R 476
GCCAGCTGGG ACCTCTCAGC CCTGCCTTGT CTGCTCCTCA CCCTAGATAC
12150
TTCCAACAAT GCACCTCTTC TCCCCAAGCC AG
G
GCTACTG CCTTCCCTGC
12200 |
var(12183):[A:0.02]
CCTCCTAGAA TAGAGGGCAC CCGCACCCTA TCCCTTATCC CCACCTCACC
12250
AAATAACTGC AATG
G
CTCCC CCAAAACCCA GTCCCTCACC TGCAGGGGAA
12300 |
var(12265):[T:0.02]
GGGGCCCATG GGGGCACAGA CTCTCCAGGT ACCAAGGTGG CCTCCCTATC
12350
CCAAGAAGGG GCTTGTGTCC TGCCAAGTCC TTCTCTGAAT GATTTA
G
AGT
12400 |
var(12397):[C:0.02]
GCTCACCCTA TGCCAAGTGC CAGCAGAACT CTAGGGGGAG GACACACACC
12450
CACGCACAGT TCCTGGATGT GACC
A
GGGAT GGAGATCCAG GTGGTCTC
G
T
12500 |
var(12475):[G:0.20]
|
var(12499):[A:0.16]
TCTCCATGCC TCATCTCCTG CTTTCTCTGA GTCTTCAACT TATCCTTGCC
12550
TTCCTTGGGT TCCCTGCCCC AATCTTTGGA ACCCCACTCC CTCCACTCCC
12600
TTGTCTTGGG CTAA
T
AAGGG GGGATGGGTT GGAAAAAGAG AGAGACCGGG
12650 |
var(12615):[C:0.01]
CAGGAGGA
A
G CCAAGTGGAA GGGTCTGGAG ATGGGGAATG TGGGAAGACT
12700 |
var(12659):[C:0.01]
TCA
T
TGGCCA GAGCACGATT GAGAAGTAGG CACAGCACCC CAAATCCTGG
12750 |
var(12704):[C:0.14]
AAGGCACGAG GCCATGGTAC GGGTGAG
G
GT GGGAGCTCTG CAGCCTAGGG
12800 |
var(12778):[A:0.01]
ATGCCACTGG TGACAGGAGT CTTTGGGAAC AGAAGATCAG AGACTGCCCA
12850
TATGCCTGAA GGCCCCCTCC TCC
C
GCCACC CCCAGCCCTT GTCCTCAGGG
12900 |
var(12874):[T:0.01]
AGCTCCAGGG AGTTTCCCAG CTGTGGGCTG ACTCATG
C
AG CCCC
G
CGTGC
12950 |
var(12938):[A:0.04]
|
var(12945):[A:0.33]
CTCCTGCTTC GCAGCAGCAA CTCAGTTGAT GGGGCAGCTG GGAGGTGGAG
13000
GAGCAGGGAG GAGGAAGAGG AGCATCTCCA GATAACAGGG ATGGAGTCTC
13050
CATCCAGACT GAGCCCCTCT CAAATGGTGA CAGAGAGTAG GGTTCAGTCA
13100
GCAGAACTGC AAGTGAATCT CCTTTGAGCA GAGCTCTGTC CAGGGCACAG
13150
AGGGGGCTCC AGGGGTAGAT GTGGCATCCT GTCATTCAGA GAGGCCCATG
13200
CTTCCTCCGG AGCAGCTAGC CCTTCCTGGA CATGTGAGGG CTGATGGGAT
13250
TGTTGGGTAA GAGGAGACCT GAGATGGGTA GAGGCAACCA CGGAGGCCTT
13300
CCTGAAGGAT GAGGCT
T
T
T
T
T
T
T
T
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
13350 |
REPEAT
C
G
G
A
G
C
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
G
G
C
13400 |
var(13389):[T:0.30]
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
13450
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
T
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
13500 |
var(13480):[G:0.03]
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
T
T
T
A
G
C
C
G
G
G
A
T
G
G
T
C
T
C
G
13550 |
var(13538):[T:0.16]
A
T
C
T
C
C
T
G
A
C
C
T
C
G
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
G
T
G
C
T
G
G
G
A
T
13600 |
var(13570):[T:0.48]
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
G
G
C
C
TAG GATGAGGCTT TTAAGGCCAG
13650 |
var(13624):[A:0.06]
AAAGAAGAAG AATACCTCAG GCAGGAAGGT CTGCGCAGAG ACAGAGAAGA
13700
AAAGGGCCCT GTTCGGGGGA AAGGAGGGGA TGCTGGGGAG GCTTACTGAA
13750
GCCACAGTCA TGATGGCAGA TAGCCCAGAG CTAAGCCAGA GGCGGACAGA
13800
GGTGGAGGTG AGGAGGGGAG GAAAGAAGGC ATAGAGGC
C
C TGAAGGAGTC
13850 |
var(13839):[G:0.05]
CAGCTAGAGA GAGGTTGGAC CCCAATAAAA CAACCAGTAG AGAGCCATTG
13900
TAGATTCTTG
A
CCTGGAAAG ATGTGTTTGG GAAAGCTTTT TGGGTGTCTG
13950 |
var(13911):[G:0.01]
TCTGCCCACT TGCCCTGGAT GGACAGGCAT GGTGGGGAAT GGCACGCTGG
14000
CCTGGGTCTG GCGTCCTGGC ATCCTGGTGT CCGCTGGCTG CTGTTCCCCT
14050
GTTCTGGCTC TGCAGCCTCC TCCAAGGTGG CCTCCGTGGT GTGTCTAGAG
14100
AGCTGGGGTC AGGCAAGTGC CTGCTTTGAA GCCTATTTCA GCCTCCCATC
14150
AAGGAGG
A
G
G
A
T
G
G
T
G
A
G
C
A
A
A
A
A
C
A
G
T
T
G
T
G
A
G
C
A
G
G
G
A
G
C
C
A
G
A
G
G
G
C
14200 |
REPEAT
C
A
G
G
T
G
C
A
G
C
C
T
C
T
T
C
T
C
T
T
A
G
T
C
T
G
G
G
T
G
T
G
G
C
T
C
C
A
G
C
C
C
A
T
T
G
T
C
A
C
14250
C
T
T
C
C
C
C
T
A
C
C
T
G
G
G
C
C
T
C
T
G
T
G
T
C
C
T
C
A
T
T
T
T
C
A
A
A
A
T
G
A
G
A
G
G
G
T
T
G
C
14300
A
T
G
A
T
C
T
C
T
G
C
G
G
C
C
T
C
C
C
A
G
C
T
C
C
C
A
C
A
T
G
T
T
G
C
A
A
G
C
C
C
A
T
TCTTGCC
14350
TGAACATCCC CAGACCTGTA G
A
TTCTCCTA AGGGCTGAAG ACACTAGCTC
14400 |
var(14372):[G:0.15]
CACCCGCAGT GGAACCAGGT ATTTTCATGA GCTGAATGTC ACACTGGAGG
14450
AACCCAGCAC CTCATGCCAA GTGGCCCACC TTTGCCCATC CTGGTGAC
T
C
14500 |
var(14499):[C:0.44]
ACCTCTCCCC CAGTGTGCAT ATCCTGCCTC AGGTTCCC
C
A GGACAGGTCC
14550 |
var(14539):[T:0.06]
TTTGGTAGAG CAACCTTGCC TTTGTCCCAA AGCTCCCTGG CCCTCCTGGG
14600
CAGCTGCTGC CATCCACAGG CACTGCTCAG GCAGCCAGGA CGGGCTTTGG
14650
GAATCCTAGG GCTTCCCCCA G
C
CCCGCCAC CAGGCAAGAC ATTCCAGGCA
14700 |
var(14672):[T:0.02]
AGACTTCATC TCCAAGGT
C
C
C
T
T
T
T
G
A
T
C
C
C
T
A
T
G
A
A
T
A
T
C
T
T
A
T
T
G
T
G
T
14750 |
REPEAT
C
G
C
A
G
G
A
A
G
G
A
A
A
T
T
T
G
T
C
T
C
C
T
C
G
T
T
T
T
A
T
A
G
G
T
G
A
A
G
A
G
C
C
T
G
A
G
G
C
C
14800 |
var(14784):[A:0.41]
T
G
G
A
G
A
G
C
T
A
A
A
G
G
A
C
T
A
A
C
C
C
A
A
G
G
T
C
A
T
G
C
A
G
A
T
A
G
C
A
A
A
T
G
C
C
A
G
G
A
14850
C
T
A
G
G
A
C
T
C
G
A
A
C
C
C
A
T
G
T
C
T
C
C
T
G
A
C
T
C
C
C
T
G
T
GGAGAT GTATTGGGTC
14900
CAGCCTCACC CTCTTCTGCC GTCAAATTTC CCATGCCTTA AAATCCATTT
14950
GTGCACTCAG TAACGCC
T
T
C
A
G
C
A
T
C
C
G
T
G
C
A
C
T
G
A
C
G
G
A
C
T
A
C
C
A
T
G
T
G
15000 |
REPEAT
|
var(14977):[T:0.18]
|
var(14987):[T:0.01]
C
C
G
A
A
C
A
C
G
T
T
G
C
T
A
G
G
C
A
C
G
A
G
A
C
G
T
A
C
G
A
G
G
A
G
C
A
A
A
G
C
G
A
C
G
G
C
A
C
C
15050
C
C
T
G
T
C
T
T
C
A
A
G
G
A
G
C
C
T
G
C
A
G
T
T
C
A
TTCC TGATTCTCTC TTTGCTCAGC
15100
TCCCCTCTCC TTCCCTGCTC CTCCATTCCC AAGCCAAAAT ACACAGCATA
15150
CTTTTTAAAA ATCATGATTG
T
T
A
C
T
A
A
A
A
T
G
T
A
T
A
T
A
C
T
A
A
T
G
G
T
A
G
A
A
A
15200 |
REPEAT
G
T
T
A
G
A
A
A
A
C
A
G
A
G
A
T
A
A
G
C
A
A
A
A
A
T
A
A
G
A
A
A
A
T
T
A
A
A
A
T
C
C
C
A
T
A
A
C
C
T
15250
A
C
T
A
T
C
T
A
G
A
G
A
C
A
G
G
T
T
A
T
C
A
C
A
C
C
T
T
A
G
G
A
G
T
A
C
A
C
A
T
C
C
T
T
C
T
A
G
A
T
15300
A
T
T
T
T
T
C
T
A
C
T
A
T
G
A
G
T
A
A
A
C
A
T
T
A
A
C
C
A
A
C
A
T
G
A
A
A
T
GA TAGTGTATTT
15350
GCTGTTTTAT AACCTGTTTT GGGGATCACA TCTGCTG
T
CC CACCTTCTGG
15400 |
var(15388):[A:0.16]
ACTCATCTAG AGCTTCCCCT TGAAGTTGTT TGTCTTGTCC TTCTTTCTCA
15450
GCATTTCCTG TAAACTGGGA AGTTTTAAAA A
T
TTTTTTTT AGTA
T
T
T
T
A
T
15500 |
var(15482):[A:0.04]
|
REPEAT
T
T
T
A
T
T
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
C
A
A
G
G
C
A
G
G
G
T
C
T
C
A
C
T
G
T
G
T
T
G
G
C
C
A
G
15550 |
var(15522):[:0.97]
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
C
A
A
T
T
C
T
C
C
C
A
C
C
T
T
G
G
C
C
T
C
C
C
A
15600
A
A
G
T
G
C
T
G
G
T
A
T
T
A
C
C
G
G
T
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
T
T
T
A
T
T
TTGTA
15650
TTGTATTGTA TTGTATTGTA TTGTATTGTA TTGTATTGTA TTGTATTGTA
15700
TTGTATTGTA TT
A
T
T
A
T
T
T
T
T
G
T
A
G
A
G
A
C
A
G
G
G
T
C
T
C
A
C
T
G
T
G
T
T
T
C
C
C
A
15750 |
REPEAT
G
G
C
T
G
A
T
C
T
C
A
A
A
C
T
C
C
T
G
G
T
A
T
C
A
A
G
C
A
A
T
C
C
T
C
C
C
A
C
T
T
C
T
G
C
C
T
C
C
C
15800
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
A
C
C
A
C
T
G
T
G
C
C
A
G
G
C
C
TAAACTGGGA
15850
GTGCACAAGG CTAGATGGAT TCCAGTTGAA CATTTTTTGC TAGAATACAT
15900
TATTGATGAT GCCGGGTATT GTATGTTGAC ATACCACTGG CTGGTGATGG
15950
CCTGATTCCT CTGCTGTACC
G
TTACATTGT CCCTGTAGAA GAAAGAAGCA
16000 |
var(15971):[A:0.01]
GAGTGGTGTG ACCT
T
GTCAC C
G
TGCAAATG CCCACCCCAT TATCAACCAT
16050 |
var(16015):[C:0.16]
|
var(16022):[A:0.07]
CATTGCTTGT AAGGCTATGC CCCAGAGAAC GAT
T
T
C
A
C
T
G
G
G
C
A
G
C
A
A
G
A
16100 |
REPEAT
T
G
A
T
A
A
T
G
T
T
C
T
A
A
C
T
T
C
T
G
A
T
A
T
A
T
C
A
T
T
G
C
C
T
A
G
T
A
G
T
C
T
A
C
A
A
A
A
T
A
16150
T
A
G
C
T
T
T
T
C
C
C
T
C
A
T
C
A
G
A
A
A
G
C
T
A
T
T
G
G
T
T
A
T
C
A
A
G
A
A
A
T
A
C
A
G
T
T
T
C
T
16200
A
C
T
G
G
A
C
A
G
G
A
A
C
T
T
A
A
T
T
C
T
T
T
C
C
C
T
T
T
A
G
T
T
A
C
A
A
A
G
T
T
T
C
C
T
G
G
T
A
A
16250
G
G
A
G
ATCATT AATAGCAGCC TTGCATC
A
T
G
G
G
C
C
C
G
T
G
A
A
T
T
T
T
C
A
T
A
G
A
16300 |
REPEAT
C
T
C
A
A
G
G
T
G
T
T
A
C
A
A
T
C
T
G
T
C
T
C
A
A
C
C
T
T
T
A
T
T
A
T
T
T
G
C
A
A
T
A
C
T
C
A
A
C
A
16350
A
T
G
T
C
A
C
A
A
C
T
T
G
G
G
T
A
A
G
C
A
G
G
G
C
C
C
T
C
G
T
C
A
G
G
A
T
G
G
C
G
C
C
T
C
T
G
T
C
C
16400
CAAACACAAA ACTTCCCAGA GACCCGGAGA GCCACCAAGG CTGTCCCACA
16450
GATGCTATGC CCAGCATGTG CCAACAGAGC TCTCTGCCTC CCACCTTGGC
16500
TGCTCCTAAG CCCCCAAATG TGGCCTTTCT CTTTGCTTCC CTCAAG
G
T
T
C
16550 | Exon 14
F 477
A
G
C
A
G
C
G
T
G
G
C
T
G
G
A
A
C
G
C
C
T
G
A
G
A
T
C
C
A
G
G
A
A
C
T
G
A
A
G
G
C
G
G
C
T
G
C
A
G
A
16600
S S V A G T P E I Q E L K A A A E 494
A
C
T
G
A
G
G
T
C
C
A
G
G
C
T
G
C
G
G
A
C
T
GTGAGTGA GGCTGGAGGG CAAGGGCTTA
16650
L R S R L R T 501
GCAGGATCAG AGCTGGGGGC CCGTGTTCCA GCCAGCCTGC CCACCAGTGC
16700
CCAGGCTGAA GACCCCACGG GGGTCTGCCT TTGTGCCCCA CAG
C
T
A
G
C
G
G
16750 | Exon 15
L A 503
A
G
G
T
C
C
T
C
T
C
C
A
G
A
T
G
C
T
C
C
C
A
A
A
A
T
A
T
C
A
C
G
G
A
G
A
C
C
C
A
G
G
A
G
A
G
C
C
T
G
16800 |
var(16785):[C:0.01]
E V L S R C S Q N I T E T Q E S L 520
A
G
C
A
G
C
C
T
G
A
A
C
C
G
G
G
A
G
C
T
G
G
T
G
A
A
G
A
G
C
C
G
G
G
A
T
C
A
G
G
T
A
C
A
T
G
A
G
G
A
16850
S S L N R E L V K S R D Q V H E D 537
C
A
G
A
A
G
GTCT GTGGGATTTT CCTTCTTTGT GGGGTGGGAG TGGGGGAGTG
16900
R S 539
GGCAGCTCCA AAGGTCCAGT AACCTTTAGC CTTTTAGACG TCAGCTTGCA
16950
TTCCCCTTTC TCTTGGCAAG GGTGCTAGGG CATG
G
GGGAG TAGAGGGAGA
17000 |
var(16985):[C:0.01]
TCCAGCAATA AACAAGAACC CCC
C
GACTGC CCCAGACACC AGCCAGGAGG
17050 |
var(17024):[T:0.02]
AGAAAAGGAT CTGGGGTCCT GCACCCATCT TGGAGTTTGA GGAATGCCTC
17100
GGGAATCTTA GCAGGTGCTA TAATTCTGAA TAAAAGAAGA CTTTAGTTCC
17150
C
T
T
T
C
T
C
T
G
T
G
T
C
A
G
G
C
C
C
T
T
G
G
G
T
A
G
G
T
C
C
T
C
T
C
A
C
G
T
A
C
A
G
C
A
T
C
T
C
G
17200 |
REPEAT
T
T
G
A
A
T
C
C
T
G
A
A
A
A
C
A
A
T
A
A
T
G
A
T
G
C
T
A
T
G
A
T
A
A
T
G
C
C
C
T
T
T
T
T
A
T
A
G
A
A
17250
C
C
T
C
A
G
T
C
A
G
T
G
A
G
G
T
T
A
A
C
T
T
A
C
C
C
T
G
A
G
T
C
A
C
A
G
C
C
A
G
T
A
A
A
T
G
A
C
A
A
17300 |
var(17255):[G:0.01]
A
T
G
A
C
A
G
A
G
G
T
G
G
C
T
T
C
A
G
G
T
C
G
G
G
T
C
T
G
T
C
C
A
C
C
T
C
C
A
A
A
G
C
C
T
A
T
G
T
T
17350
C
T
T
G
G
C
C
T
A
T
G
C
C
A
GGCAGG GGTTTACAAC CTTTAAGGCA CCAC
T
CTCCC
17400 |
var(17395):[G:0.01]
TTTTAACAGA CATAAAAATA CCCCCCTCCC CCAGGCCCCA GCTGACTGTG
17450
GGGAGCCGCT GCCTACCTTG CCGCTTCTGA CCAGGGGATG GGTGGTACCC
17500
AGCGCGGACC TCCTCCCCAT TCTCTGCTGG TGCCTACTGT AATCTGGGCC
17550
TATCCCCA
T
C
C
A
T
C
A
T
C
C
C
A
T
G
C
C
C
T
C
A
A
T
T
C
T
A
A
A
T
T
C
A
A
A
C
A
G
C
T
C
T
G
17600 |
REPEAT
|
var(17573):[G:0.34]
A
A
C
A
C
C
A
C
A
G
G
A
G
T
T
T
T
T
C
T
T
A
A
C
T
G
T
T
T
T
G
G
C
C
A
T
A
A
A
A
C
C
T
G
A
C
C
T
A
A
17650
A
T
C
G
A
A
T
G
A
G
G
C
T
C
T
T
T
A
T
A
G
A
A
T
T
T
A
T
C
C
C
A
C
T
T
A
C
G
G
T
G
A
A
T
G
T
T
C
T
T
17700
G
T
G
G
T
T
C
T
T
T
G
G
A
G
A
T
G
T
G
A
A
T
G
T
G
T
T
T
G
A
T
T
A
G
G
A
G
T
T
G
A
T
G
C
C
C
T
G
C
T
17750
C
G
G
G
C
C
A
T
T
C
C
A
C
A
A
T
A
C
A
C
T
G
T
G
T
G
G
G
T
A
C
C
A
A
A
T
T
G
C
C
T
T
T
C
T
G
A
T
A
T
17800 |
var(17752):[A:0.02]
C
A
G
A
A
G
A
C
G
A
T
T
C
T
C
A
A
T
T
C
A
G
A
G
C
A
C
A
T
T
T
G
G
C
C
C
C
G
T
C
C
T
T
T
T
G
G
A
T
G
17850 |
var(17838):[A:0.02]
A
A
G
G
C
T
G
C
A
G
A
T
C
T
G
AGGCC C
C
GTCCTTTT GGATGAAGGC TGCAGATCTG
17900 |
var(17872):[T:0.01]
AGGCCCTGTC CTTTTGGATG AAGGCTGCAG ATCTGAGGCC CTGTCCTTTT
17950
GGATGAAGGC TGAGGATCGA GGTCCTGTCC TTTTGGATGA AGGCTGCGGA
18000
TCCCAGGCCC TGTCTTTTGG ATGAAGGCTG TGGATCGAGG CCCCATCCTT
18050
TTGGATGAAG GCTGAGGATC AAGGCCCCAT CCTTTTGGAT GAAGGCTGCA
18100
GATCTGAGGC CCTGTCCTTT TGGATGAAGG CTGAGGATCC CAGGCCCTGT
18150
CTTTTGGATG AAGGCTGAGG ATCGAGGCCC CATCCTTTTG GATGAAGGCT
18200
GCAGATCCCA GGCTCTGTCT TTTGGATGAA GGCTGTGGAT CTGAGCCCTG
18250
TCCTTTTGGA TGAAGGCTGA GGATCGAGGT CCCATCCTTT TGGATGAAGG
18300
CTGCGGATCC CAGGCCCTGT CTTTTGGATG AAGGCTGTGG ATCCCAGGCC
18350
CTGTCTTTTG GATGAAGGCT GTGGATCGAG GCCCCGTCCT TTTGGATGAA
18400
GGCTGAGGAT CAAGGCCTCA TCCTTTTGGA TGAAGGCTGC AGATCTGAGG
18450
CCCTGTCCTT TTGGATGAAG GCTGAGGATC AAGGCCCCAT CCATTTGGAT
18500
GAAGGCTGCA GATCTGAGCC CTGTCCTTTT GGATGAAGGC TGTGGATCCC
18550
AGGCCTTGTC TTTTGGATGA AGGCTGTGGA TCTGAGGCCT GTCCCAGCCA
18600
CTTCATCTTC CACCCTCATG TTCCTGG
C
GG GGCAGGCTCC TTCGGCTGGC
18650 |
var(18628):[T:0.01]
AGAGCCCTGG AACAAGCCTG TGCTCTGTTC AGAGTCAAGC TCCAGAAATA
18700
GCAGAGATGG GGTCACTTGG AGGTGCTGCA GGGA
G
GAAGT GGAGCTACAT
18750 |
var(18735):[A:0.07]
AGGCCTGTGG GTGAGGAAGA ACTTTTCCCA GACACTCCCG ACTTCTCAAA
18800
CAAAGTGTTT GTTTCCAGCC TGAAAAGGGG AA
G
GAAGAAA TAATAATGAC
18850 |
var(18833):[A:0.05]
CTTCAACCCC AGAACAAGAA AGTCCTCGGG AGATCATCTC CCCAGTTCCT
18900
CCGCCTCCGG GCAGGACCGA GGCCTGTTGA TTCATTCTTG TTTTCAATAA
18950
GGATTATTGA TTCATTATTT ATGTTAAGTT TCTGCTGTGT GCCACACATT
19000
GGGTAAACCA AGAAGCTATA TTCTTCTGCT TTTTCCAGTT GACCAGAGAG
19050
AGATTTTAGC TCCCCTCTAT CCCCAGCTGT CACTGCCAGA CA
C
GCTCTTA
19100 |
var(19093):[T:0.07]
GGTTTCAGGG GCCTAGGCTC CTTCCCAGGG CCTAGTCTCA CAACTTCTCA
19150
GGTAGTAAAG GCCACGTTCC TGTTGCCCGT CCTGCTTGGC TTCCT
G
TCTC
19200 |
var(19196):[A:0.01]
TCTTATCTCC TACTTAACTC ATGCTGCGAG TGCATGTGTG TGAGAGAGGA
19250
AGAATAAGCC ATGAGAACGA GAGACGGCTG GCTGACTGTA CGGGGTCTCA
19300
AATAAGCCTA GAGA
C
GGGAC AGCCACCTCC ACTCCCAGAC TGATCCCCCA
19350 |
var(19315):[T:0.01]
AAACTGTGGC TGTGAGGCTC CTCCCCTATT CCACTGCCAC CCTTCCCCTC
19400
CCTCCCTCTT TC
C
TCTGTGC TATTAGATTC TTCCAACACC TGGTCCCTGT
19450 |
var(19413):[T:0.01]
CTCCTGCCCA CAG
C
A
T
C
C
A
G
C
A
G
A
T
T
C
A
G
T
G
C
T
G
T
T
T
G
G
A
C
A
A
G
A
T
G
A
A
C
19500 | Exon 16 |
var(19476):[G:0.01]
I Q Q I Q C C L D K M N 551
T
T
C
A
T
C
T
A
C
A
A
A
C
A
G
T
T
C
A
A
G
A
A
G
T
C
T
A
G
G
A
T
G
A
G
G
C
C
A
G
GTGAGCCCGG
19550
F I Y K Q F K K S R M R P 564
GGAGGGCAGA TGCCCCTTCT CTCTCCTCTG TCTCCCTTCT TT
C
G
CCTTTC
19600 |
var(19593):[T:0.01]
|
var(19594):[A:0.01]
TTCCTTTTCA CTGGTGCTAC CAGTGGCCAC TAACCTCCAG CTAAGTGGCC
19650
GCTAACCTCC AGCTGGTGGT TCTTGGAGGC CCACTAAGCG GATGGTTCTG
19700
TGCAGCTGCT CTAGGGGCAA GGCCCCTGTC TGCAAGCTGC CTGCAGGCCA
19750
GTGGGGGACA TGAAACCTTT ACATGCCTGC CTGTTGCCAC ATGAGAGACT
19800
TGGATCACAT GGTTGGGGGA TCCAGTGGGC CGGGACCTGG GTGCTGTAGG
19850
AGAGGTGGTC CTGGAAAGAG ATCTCGCACC TTGGCAGGGC ACTTTAAAGT
19900
ATAGAATGTC ACTATCCGTT GTGTCCTTGG GACACTGAGA CAGTC
A
GGTT
19950 |
var(19946):[G:0.01]
TTCCAGAAAA
G
GGGGGGGTC AGGAGAAGTC CCATTTTGAG TCACTGGGTC
20000 |
var(19961):[:0.99]
AGGCATTTTG GCTGCTTGAT CCATTAATC
C
TCACAAGG
A
T GCTGTGGCAG
20050 |
var(20030):[T:0.04]
|
var(20039):[G:0.01]
GGGCAGCCCA TTTACAGGCT CGGGGGTGGG AAGCTGCTTG TCCAAAGTGA
20100
CTGCCATTGT GGGGTAGTGC AAGGGTGGGA CCCAGGGAGG GCTGGTGAGG
20150
GGGTTGGAGG GAGCCTGCGG AGGCTCCAGT TGACTC
C
TCA GGTTGGGGAA
20200 |
var(20187):[T:0.13]
CTAACACACC AGGAACCAAA CCTCCCCCTC CTCTCCCAGG CCCCAAGCAT
20250
TTCCTAATCT GTAGGCTGAA GGTCTTGGGC TTTATTGCCA AATTCTCTTC
20300
TCTCCTTGGG ATTATCTAAA AAC
C
A
C
T
G
T
C
C
A
A
T
A
G
A
A
A
T
A
T
A
A
T
G
C
C
A
G
20350 |
REPEAT
A
C
A
C
G
T
A
T
G
T
A
A
T
T
C
T
A
A
G
T
C
T
T
C
T
A
G
T
A
G
C
C
A
A
T
T
T
T
T
A
A
A
A
A
G
T
A
G
A
A
20400
A
G
A
A
A
C
A
A
G
T
G
A
A
A
T
T
A
A
T
T
T
T
A
A
T
G
T
G
T
T
A
T
T
C
A
A
C
C
C
A
A
T
A
T
A
T
C
C
A
G
20450
T
G
T
C
A
T
T
T
T
A
G
C
G
T
G
T
A
A
T
C
A
A
T
A
T
A
A
A
C
A
A
A
A
T
C
A
C
T
A
A
G
G
A
A
A
T
A
C
C
T
20500
T
A
T
A
T
T
C
T
T
T
T
T
G
T
G
T
T
A
T
C
T
T
C
A
A
A
A
T
C
C
C
A
C
G
T
G
T
A
T
A
T
A
T
A
C
A
C
A
T
A
20550 |
var(20548):[G:0.02]
AATATATAAC TTATTTCCTT AGCAATTCTG TTTATATTGA TTACATGCTA
20600
ATATATATA
T
T
T
G
A
G
A
C
A
G
G
G
C
C
T
T
T
G
T
C
A
C
C
C
A
G
G
C
A
G
G
A
G
T
A
C
A
A
T
G
G
20650 |
REPEAT
C
A
T
G
A
T
C
A
C
T
G
C
T
C
A
C
T
G
T
C
G
C
C
T
C
A
A
C
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
C
A
T
C
C
T
C
20700 |
var(20671):[A:0.01]
C
C
A
T
C
T
C
A
G
G
C
T
C
C
T
G
A
C
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
ATGCTT TCCCATCACT
20750
TCATTGTTTT ATATTTCACA TATATATATA
T
AATTCATAT ATATATTATT
20800 |
var(20781):[A:0.02]
CACATATATA TATTATTCAT ATATATATTA TTCACATATA TATAACATTT
20850
ATAACACATC TCTATTGGGA AACTAAATTT TATATATGTG TGTATATGTG
20900
TGTGTGTGTG TGTGTGTGTG TGTATATATA TATATATATA TATATATACA
20950
CACACACACA TACATGG
A
G
C
T
G
T
G
T
G
C
A
G
T
G
G
C
T
C
A
T
G
T
C
T
G
T
A
A
T
C
T
C
A
21000 |
REPEAT
|
var(20973):[G:0.13]
G
C
A
C
T
T
T
G
G
A
A
A
A
C
T
G
A
A
G
C
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
A
A
G
21050
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
C
A
A
G
A
C
C
C
C
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
A
A
C
A
A
A
21100 |
var(21077):[T:0.01]
A
C
T
A
G
C
T
G
G
A
C
G
T
G
G
G
C
A
T
G
C
G
C
C
T
G
T
A
G
T
C
C
T
A
A
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
21150
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
C
T
G
A
G
C
C
T
G
G
G
A
G
C
T
G
G
G
A
G
T
T
C
G
A
G
A
C
T
G
C
A
G
T
G
21200
A
G
C
T
A
A
G
A
T
C
A
C
A
C
C
A
C
T
G
C
A
G
C
A
C
T
C
C
A
G
C
C
A
G
G
G
C
A
A
G
A
G
C
G
A
G
A
C
C
C
21250
T
G
T
C
T
C
A
A
A
C
A
A
C
A
A
C
A
A
T
A
A
C
A
A
A
A
CCTC
T
A
G
G
C
A
T
C
A
T
T
A
C
C
C
T
C
C
C
C
21300 |
REPEAT
A
T
T
T
T
A
T
A
G
A
T
G
A
G
A
A
A
A
C
C
A
A
G
A
C
A
C
A
G
A
A
A
G
G
T
T
A
A
G
T
A
G
C
C
C
A
A
G
TA
21350
ATCTAGGTCC AGCTGCTTTT AACTATCCCA TTTTACAGCC TCAAAGGAGT
21400
TTTACTTCTA TTGGTCTTTA AGAGTCCTTT AATAAAATTA AAAATGAACC
21450
CCTAACTGTT AAAACCCAGC GTGTTGAAAG ATACCATTTT TTAAAATGCC
21500
CGGTGGTCTT CAGGCTCTCT CGCATGAGCC TCACGGGACT CCCAAGTGGC
21550
ACCTGTG
A
T
G
G
A
T
A
A
G
G
A
G
A
C
A
G
G
C
T
C
A
G
C
G
A
A
G
T
G
A
A
A
T
C
A
C
T
C
G
C
C
T
A
21600 |
REPEAT
G
T
G
C
C
G
C
C
T
G
C
C
A
A
C
A
G
G
A
G
G
A
A
G
G
G
C
T
G
A
G
G
T
T
T
G
T
C
C
C
A
G
G
T
C
T
C
T
C
G
21650
G
A
C
T
G
C
A
C
A
C
A
T
G
C
T
C
T
TAG CTGGCCGAGT GCAGGGCCCA GGAGGGGGAC
21700
TCTGCTATGA GAGGAGTGGG ATGGGGAGGC CCTCGAAGTG AACCGCCATC
21750
ATCATTTCAT CTTGGGGCTG CCGCCACCCT GGAGGCCCAT TCCTGCGAAG
21800
ACCAGGAGGG GGCAGCATCT CCCTAGTGCA TGAGCCTTAG GGCCCTTCAG
21850
GAGGCAGCCA AGGCCATGAA AGCTTCAGCC TTTCTGGCAA AAGTGGCTGG
21900
GCAGAGCGGG GAGGTAGAAG GTGGTGGCCT GATTTCTCCA GCTCGTTGCA
21950
GGTAGCGCCC AT
G
A
A
C
GAAC ATTCAGGGAT GGGACCACCC AGCTGCAGGC
22000 |
var(21963):[:0.99]
ATCAGTCACT CTGGGAGGGT GCTGGATAAG GGGCTATGGT TGACCGAGCC
22050
TCCTTCTAAG CCCACTTCAT CCACCAACTC CCACCTGAAG CATCCCCCA
C
22100 |
var(22100):[T:0.01]
GTCCCCACCC CGGCCCTGCA CTGCAGGCTG CCTTCCCCTG GGGCCCT
C
AC
22150 |
var(22148):[T:0.01]
ACAATTTCCC CATGGCTTCT TGAGGCCCTG GCTTTGTCCT AATCAGCTAT
22200
TCCGGTGCTA GCTTCACTCC TCTGCCCCTC CTGCTCCGCT GGGCGGTGAG
22250
TTCCCGTGAA GCAGCACAGG CTGGGCCGTC TTCATCTTTT AACTGTCTCT
22300
CGACCTTTGC TGCACACTGT TTCGTTGACT GATTGAATAG GTGACATCTG
22350
TTCTGTCTGT TTCCTCCAG
G
G
C
T
T
G
G
C
T
A
C
A
A
C
G
A
G
G
A
G
C
A
G
A
T
T
C
A
C
A
A
22400 | Exon 17
G L G Y N E E Q I H K 575
G
C
T
G
G
A
T
A
A
G TGAGTGGCCT GTCCTCCGGC AGGTGGGTGG GCAGGAGGGT
22450
L D K 578
GGGTGTCCTC AGGGCAGAGC GATTCTCAAC GCCAGAGGAG AGGCAGTGAA
22500
GGGCCCTGTC CCGGACTGCA GCTGAGCAGA GTTGGGGATA ACAGGTTATC
22550
TGGGGCCAGG GGAGGGAGTA TGCATAGCTT AGTTGGAGGG AGACTTCTCA
22600
GATGCAATCT TGA
T
GTAACT GGAT
G
TACTT CTGGTATGGA CAAGACTGTT
22650 |
var(22614):[A:0.09]
|
var(22625):[T:0.22]
TGCAGGCTTT TTTTTTCTCT AGTTGTCCTC ACTGATGCAC CACTTACCAC
22700
TTCCTGCTTC TGCCCTCTGC CTGAACCTTC CCTGCCTCCC CCC
G
CTCCTC
22750 |
var(22744):[A:0.02]
TGTCTCCCAT GTTTCCCGGA CACACTCACG TCCAGGAGGC CCTCCCTGAT
22800
TTAATGGTTA TCTGGGAACT CACTC
C
CCCA GTTCTACAAG CACCCCGACC
22850 |
var(22826):[T:0.01]
CCTTTTTGTC TCACACACAC ACGCACTCAC ACACCTTCTT TCCACGGCTG
22900
CCTCACTTTC CCTTCCCTTT CCTGAGGACT AAGCTTGAGC ACATGTGTGT
22950
TCCCTGAGGA CCCCCTGTGT GTCTCCCACG TCTCCCTGTT GATGTGGGCT
23000
TTGCTGGCCA CTGCAACCTT CACAATCCAA GTGTGTGACC GTCCTTCCTC
23050
CTTTCCCAGA GACATAGCCC TGCTG
T
GGAC GCAGGGCTTG GGCACTTAC
G
23100 |
var(23076):[C:0.01]
|
var(23100):[A:0.01]
ACAAGGTGGT GACGGAGACT GACGGAGACT GAGGGATGGT GGGCTTGTGC
23150
ATAGTGGTTC TGGCAGCTCA TCTGCACCTT GGTTCTCTGT CGTTCTAG
G
G
23200 | Exon 18
578
T
G
A
A
T
T
T
C
A
G
T
C
A
T
T
T
A
G
C
C
A
A
A
A
G
A
C
T
C
C
T
G
C
A
G
G
T
G
T
T
C
C
A
G
G
A
G
G
A
G
23250
V N F S H L A K R L L Q V F Q E E 595
T
G
C
G
T
G
C
A
G
A
A
G
T
A
T
C
A
A
G
C
G
T
C
C
T
T
A
G
T
C
A
C
A
C
A
C
G
G
C
A
A
G
A
G
G
A
T
G
A
G
23300 |
var(23270):[T:0.15]
C V Q K Y Q A S L V T H G K R M R 612
GTAACAGCCC CTCCTGAGCT CCTGGAGCCC AGGGCCTGGC CTGGCCCTTC
23350
TAGGCTTCAG AGGACCCAGG GCTTTGTGGA GCCCTGAGGC AGAGGGAGGA
23400
GTGAGTGAAG GGGTGTGAGC AGAGGAGTGG TTTTCTGTCC CTGGG
T
G
G
A
C
23450 |
REPEAT
C
A
G
G
C
A
G
T
T
G
G
C
T
G
G
G
A
G
A
T
T
T
C
T
G
T
A
G
C
T
C
A
G
C
T
T
A
T
T
T
A
C
T
C
C
T
A
C
A
A
23500 |
var(23458):[C:0.03]
|
var(23465):[A:0.06]
C
A
C
C
T
G
C
C
C
T
A
T
A
C
A
G
T
A
G
A
T
A
T
C
A
T
C
A
C
C
C
T
A
T
T
T
C
C
T
A
G
G
T
G
A
G
G
A
A
A
23550 |
var(23546):[A:0.04]
C
T
G
A
G
G
C
T
C
T
G
A
G
A
A
C
A
G
G
T
C
T
C
C
T
C
T
G
C
A
C
A
T
C
A
C
A
T
G
G
C
T
A
G
T
A
A
G
T
G
23600 |
var(23563):[T:0.01]
G
C
A
G
A
C
C
C
A
A
G
A
C
T
C
G
T
A
T
G
T
G
G
C
T
C
T
G
C
C
T
G
C
C
T
C
T
A
C
A
A
T
C
T
A
G
A
T
T
C
23650
T
T
CAGGGCTT TTGAGGGGTA AAATCAAATC AAATCTGGAT TCTTTCTACC
23700
GTTCCACCTG GTTATATTGA GAAGTCTCCT TTAGGAGAAC ACTAGGTGCC
23750
CCTGGGATAA GGACAGTGGC AGTGGCCCTT AAGTAGAACC TTCTGTCACA
23800
CTGTCCCCTT CAGGAGTTTT GGGTTCCGCC TTCTCAGATC AGGCCCACTC
23850
TCC
A
TCCCCT GCCTGTGTGA ACACTGGCCC CTCCTGAGAA GAGAGGACAA
23900 |
var(23854):[G:0.06]
TTTCCCACGT GCTACCACAT TCTGAGGCCT GTAGGAC
C
TC ACCTTGTTAT
23950 |
var(23938):[T:0.04]
GGGGCTGAGA CCTTGGCACT CACCC
G
TCCT CATATC
A
G
A
A
T
A
C
C
A
A
T
G
C
C
24000 |
var(23976):[A:0.06]
|
REPEAT
T
G
C
T
T
C
T
T
C
T
A
C
T
C
C
A
A
C
C
C
A
C
C
A
C
A
C
A
T
T
C
T
G
G
T
G
T
A
A
T
T
G
C
T
C
T
G
G
A
G
24050
C
A
G
G
G
C
T
T
G
G
A
T
G
T
C
A
G
T
G
T
A
G
T
A
C
A
G
C
T
T
C
T
C
C
A
G
G
T
G
A
T
T
C
T
A
A
T
G
T
G
24100 |
var(24055):[A:0.11]
T
G
G
C
G
A
G
G
G
C
T
G
A
G
CTCCAA CCCCTGATTT AAC
A
GCTCTG GGCCTTGGGG
24150 |
var(24114):[C:0.34]
|
var(24134):[G:0.06]
AAAATGTTCC TGTTCCTTCA CTCCACTTAG AGATAGAAGA GAATTCACAC
24200
TGGAAATGAG AGCGTGGGCA GTTCCCCACA CTGAGAGCCC TGGTGTGGGC
24250
TATCCTCTGC CTCTCTGCAG CCTGACTGGT GCCACGCTCA CCATAGGTGG
24300
CATGCGTCAC CCAGCCCCAG CCACATGCAT GTTGTTGGTG CTCCACACTA
24350
CGGCTCTGAA GGGGGCCTCC CAGCCTCAGC CAGCTGTGTG CTTCTGCATT
24400
ATTGCAGTGG GGCGGGCAAG
C
GTGGAGGGC ACAGCTGGCA GGGCAGAGGC
24450 |
var(24421):[T:0.01]
AGCGAGGGAG GCAAATACCC GGGACCCACC TGTGTCCATG TGTGGATCCG
24500
ATGGCAGCTA GGCGAGCCCT GGGGAATGGG CTGAGTCCTG CTCTAATTCT
24550
AAGTCTCTGT GTGTTCTCTT GAG
G
G
T
G
G
T
G
C
A
C
G
A
G
A
C
C
A
G
G
A
A
C
C
A
C
C
T
24600 | Exon 19
V V H E T R N H L 621
G
C
G
C
C
T
G
G
T
T
G
G
C
T
G
T
T
C
T
G
T
G
G
C
T
G
C
C
T
G
T
A
A
C
A
C
A
G
A
A
G
C
C
C
A
G
G
G
G
G
24650
R L V G C S V A A C N T E A Q G 637
T
C
C
A
G
G
A
G
A
G
T
C
T
C
A
G
C
A
A
G
GTGGGCATGG CAGAAGGATT CTAGGTGCTC
24700
V Q E S L S K 644
TGGGGATGCA GGCTGGGGCG CTTGTTACCC ATGTCTTCCC CTCCTC
C
AGC
24750 |
var(24747):[A:0.15]
ACTCCCCCTA CCCAGCCACA CATAAGCTGG CTACTAATTG CTGACCAAAG
24800
T
A
TGGCTTCC CTGCAG
C
T
C
C
T
G
G
A
A
G
A
G
C
T
A
T
C
T
C
A
C
C
A
G
C
T
C
C
T
T
C
A
G
G
24850 |
var(24802):[G:0.06]
| Exon 20
L L E E L S H Q L L Q 655
A
C
C
G
A
G
C
A
A
A
G
G
G
G
G
C
T
C
A
G
G
C
C
T
C
G
C
C
G
C
C
T
C
C
C
A
T
A
G
C
T
C
C
T
T
A
C
C
C
C
24900
D R A K G A Q A S P P P I A P Y P 672
A
G
C
C
C
T
A
C
A
C
G
A
A
A
G
G
A
C
C
T
G
C
T
T
C
T
C
C
A
G TAAGTGCTGG GGAGAAAGCG
24950
S P T R K D L L L H 682
G
T
TGTGTATC TGTGTGGAAG GGGGTTGCAG GGAGCAGAGT ATGCTGAGGT
25000 |
var(24952):[G:0.34]
TAGAGCCTGA GGGGTTTGGC
G
T
C
ATGCCAG GCC
T
AGGAGG CAAGATTAAA
25050 |
var(25021):[A:0.11]
|
var(25023):[G:0.01]
|
var(25034):[C:0.04]
GAGACT
A
G
C
T
G
G
G
T
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
A
G
A
25100 |
REPEAT
G
G
C
C
A
A
G
G
T
G
A
G
C
G
G
A
T
C
A
A
C
T
T
G
A
G
G
C
C
A
G
A
A
G
T
T
G
G
A
G
A
C
C
A
A
C
C
T
G
C
25150 |
var(25137):[C:0.16]
C
A
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
G
G
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
T
A
G
C
C
G
G
G
T
25200
G
T
G
G
T
G
G
C
A
G
G
C
A
C
C
T
G
T
A
A
T
C
T
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
A
A
G
25250
A
A
T
T
G
C
T
T
G
A
A
T
C
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
A
T
G
C
C
A
25300 |
var(25295):[G:0.16]
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
A
G
G
A
G
C
A
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
T
A
A
G
C
A
A
A
25350 |
var(25321):[G:0.16]
C
A
A
A
A
A
A
G
A
A
T
A
A
A
G
A
GGCT TCTTTGGTGG GGCTGCAGAG GAGGGTGGGC
25400 |
var(25355):[C:0.06]
CTCCCAGGAA AAGGGTCTGG GCAGGGCAAC TTCCAGCCTC AGCCGCCTCT
25450
CCTGCCTCTG CCTTGGGCAG
C
A
T
G
C
A
A
G
A
G
C
T
C
T
G
C
G
A
G
G
G
G
A
T
G
A
A
G
C
T
25500 | Exon 21
M Q E L C E G M K L 692
G
C
T
G
G
C
A
T
C
T
G
A
C
C
T
C
C
T
G
G
A
C
A
A
C
A
A
C
C
G
C
A
T
C
A
T
C
G
A
A
C
G
GTAAGGAG
25550
L A S D L L D N N R I I E R 706
CTTTCACCTT GTGTAGGTCA GGGCCGGGTC TTCAAGCTAC CCTTGCCTGG
25600
GGGTGGTGAA GAGTCCCCAA GCCTGCCCAT GCAGGTTTGA TGACACGTGT
25650
CCATTTTC
G
A AGAAGCCCTG TTGAAGCTTA GGCATTTTCC ACAAATGAGT
25700 |
var(25659):[C:0.20]
TGACATCCTC AGGAGGTGTA GGGTTCACTT ACAGCCTTTA AAATGTGAGC
25750
CTCCATGCTG TCAGGGAGAT GGGGGCCTGG AGGCATGGGG TTTGTGCCTG
25800
TGTCCAGCTC T
G
C
A
C
T
C
C
A
T
A
T
G
T
A
C
T
C
T
G
T
G
C
T
C
A
A
G
C
T
G
C
C
C
C
A
G
A
T
G
25850 |
REPEAT
|
var(25834):[C:0.14]
C
C
T
C
C
T
T
G
A
A
T
C
A
C
A
G
C
C
A
T
C
C
T
C
A
G
G
A
T
A
G
G
T
G
C
T
G
T
T
T
T
C
A
T
C
C
C
C
A
T
25900
G
T
G
C
T
A
C
C
C
C
A
G
G
A
A
G
C
C
A
C
A
G
C
G
C
A
G
A
C
A
C
C
T
T
G
G
A
T
A
C
G
A
T
G
C
C
C
A
A
G
25950 |
var(25940):[T:0.09]
G
C
C
GGTGTTT CTCTGGCCTT GTGGGGCTCC CGTCCCTCCT GCCAATGCTC
26000
ATGGGCCAGC CCGGGGCTGC AGGATCATCT CCTGATTTGA CTCCCCTCCT
26050
TGGGGTGCTG AGGGGTCATG AGAGGTTGGT GTGGGAACGC AACAGGGCTC
26100
CGACTCTGAG ATTGAGATTT TGCATACCAG TAAAAGTTCT TTC
T
T
T
T
T
T
T
26150 |
REPEAT
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
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
26200
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
A
C
T
G
T
G
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
T
C
T
C
C
T
G
G
G
26250 |
var(26205):[G:0.04]
|
var(26241):[G:0.11]
T
T
C
A
A
G
C
A
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
C
A
G
G
A
T
T
A
C
A
G
G
T
G
26300
T
C
C
A
C
C
A
C
C
A
C
A
C
G
C
A
G
T
T
A
A
T
T
T
T
T
A
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
26350 |
var(26347):[T:0.01]
C
A
C
C
A
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
T
C
T
C
A
G
A
T
G
A
T
C
T
G
C
C
26400
T
G
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
A
C
A
T
G
A
A
C
C
A
C
T
G
C
G
C
C
C
26450 |
var(26446):[T:0.01]
|
var(26447):[A:0.07]
G
G
C
T
AC
G
TAC CAGTATAGTT CTAAAAGAAA ACTCGAGAAC AACAGAGTTA
26500 |
var(26457):[A:0.34]
CCAGCTGCTC ACATAACCAA GTAAGCACAT TTGAAGTAAA AAAAAAAAAA
26550
AAAAAAAGCC CTGTCATCTA GTAACCC
T
AC TTTATAAAAC ACATTTTACC
26600 |
var(26578):[C:0.08]
ACCAAAGAGA GATAACCTCA GGATAAAGGA TGGTCCTTGC TTGCCCTGAA
26650
GGCCAGC
G
GC CCTGTTTATA TACA
T
GTACA CACGTGCACG CATCTCCCAC
26700 |
var(26658):[A:0.07]
|
var(26675):[C:0.18]
TCCTGCCTGT CATCCTCGTG TCTGTCATTT TCCTGTCTGA GAACCAATGG
26750
CAGGGTA
G
A
G
T
C
A
G
C
A
G
A
G
G
T
T
C
C
T
A
C
A
G
G
A
T
T
T
C
A
A
T
C
C
T
G
A
C
C
C
T
G
C
T
26800 |
REPEAT
T
T
T
T
A
C
C
A
A
C
C
G
C
G
T
G
A
C
C
C
T
G
G
G
A
G
G
T
G
T
G
T
T
C
A
G
C
T
T
T
G
A
G
C
T
T
C
A
G
T
26850 |
var(26811):[T:0.48]
T
C
C
C
T
C
C
C
C
T
G
T
G
A
A
A
C
A
G
G
A
G
T
A
A
T
A
A
T
T
T
C
T
A
C
C
T
C
A
T
G
G
T
G
T
T
G
A
C
A
26900
T
A
G
G
G
A
T
T
T
A
A
A
A
A
A
A
T
G
A
G
A
T
A
T
G
C
A
A
G
G
T
G
C
T
T
G
C
G
C
A
T
A
G
G
G
G
G
G
T
G
26950
T
G
G
A
G
G
G
A
A
G
G
G
C
T
C
A
C
T
A
A
A
T
G
T
T
A
C
T
T
C
T
T
CCCCAGAG GCCACTCCAG
27000
TCTCACACTA GAATTGGGGC CAGGAGGTAG GGAAACCAGG AGCAGAGCTT
27050
GTGGTTTGTC CCCAGAGTTT CAGAGGGTCC TTGGGTAAGG GAGGAATCTC
27100
CTCCCTGTCC TGTTCCAGCA A
G
A
G
A
A
C
T
C
A
T
C
C
T
C
T
T
A
A
A
C
A
C
C
C
A
C
A
A
A
27150 |
REPEAT
G
A
G
G
A
C
A
T
T
T
G
A
C
A
G
C
T
T
C
T
T
G
G
A
A
G
G
A
T
T
T
T
C
C
A
A
A
A
C
A
G
C
C
C
T
C
T
T
G
G
27200
T
C
A
G
G
A
A
G
T
T
C
T
A
A
T
T
T
T
A
G
T
G
C
C
A
A
C
A
A
A
A
A
T
T
G
C
T
C
T
T
G
C
T
G
T
G
A
T
AT
27250
GTCATCTATT TGCAGATAGC TCAAAACTTT ATTTTAGTGA ATTTTCACTT
27300
CCTTATTCAG AGCTGTAGCC AAAGAGCCAA ATGAATCCAT TTAAACTCCT
27350
TTC
C
CC
T
C
C
T
A
A
A
C
C
T
T
G
G
C
T
A
C
A
C
A
C
T
G
G
A
A
T
C
A
C
C
A
G
G
G
G
A
G
C
T
T
T
T
A
27400 |
var(27354):[A:0.39]
|
REPEAT
A
A
C
G
T
A
C
A
A
A
T
G
C
C
T
G
G
G
T
C
T
T
G
C
C
C
C
A
G
A
G
A
C
T
C
T
G
G
G
T
A
C
A
G
C
T
T
G
T
G
27450
G
T
T
A
G
G
A
T
T
T
G
C
A
T
G
A
G
C
T
T
T
C
C
A
A
G
T
G
A
T
T
C
C
A
A
C
A
T
A
T
A
G
T
C
A
G
A
G
G
C
27500
G
A
G
A
G
C
C
A
G
T
G
GGTTCTTGT CGGGGAGTGA GGGTGCTACA AGGGGAGAGC
27550
TGAGGACTTG AATGGCTCAG TGTTCTTGAA AGCTAATTGT GCTGGGCCCT
27600
GGAGTGTGGT CTGCAG
G
CCT CTCCAACAGG TGGGCACTGC TAGCCTGTAC
27650 |
var(27617):[C:0.03]
CTTTTCTTG
T
AG
G
C
T
A
A
A
T
A
G
A
G
T
C
C
C
A
G
C
A
C
C
T
C
C
T
G
A
T
G
T
C
T
G
A
G
C
T
C
27700 |
var(27660):[C:0.04]
| Exon 22 |
var(27683):[T:0.12]
|
UTR
L N R V P A P P D V 716
C
A
T
G
G
G
G
C
A
C
A
T
G
A
G
G
C
A
T
C
C
T
G
A
A
G
C
A
T
T
A
G
A
A
T
G
A
T
T
C
C
A
A
C
A
C
T
G
C
T
27750
C
T
T
C
T
G
C
A
C
C
A
T
G
A
G
A
C
C
A
A
C
C
C
A
G
G
G
C
A
A
G
A
T
C
C
C
A
T
C
C
C
A
T
C
A
C
A
T
C
A
27800
G
C
C
T
A
C
C
T
C
C
C
T
C
C
T
G
G
C
T
G
C
T
G
G
C
C
A
G
G
A
T
G
T
C
G
C
C
A
G
C
A
T
T
A
C
C
T
T
C
C
27850
A
C
T
G
C
C
T
T
T
C
T
C
C
C
T
G
G
G
A
A
G
C
A
G
C
A
C
A
G
C
T
G
A
G
A
C
T
G
G
G
C
A
C
C
A
G
G
C
C
A
27900
C
C
T
C
T
G
T
T
G
G
G
A
C
C
C
A
C
A
G
G
A
A
A
G
A
G
T
G
T
G
G
C
A
G
C
A
A
C
T
G
C
C
T
G
G
C
T
G
A
C
27950
C
T
T
T
C
T
A
T
C
T
T
C
T
C
T
A
G
G
C
T
C
A
G
G
T
A
C
T
G
C
T
C
C
T
C
C
A
T
G
C
C
C
A
T
G
G
C
T
G
G
28000
G
C
C
G
T
G
G
G
G
A
G
A
A
G
A
A
G
C
T
C
T
C
A
T
A
C
G
C
C
T
T
C
C
C
A
C
T
C
C
C
T
C
T
G
G
T
T
T
A
T
28050 |
var(28008):[A:0.01]
A
G
G
A
C
T
T
C
A
C
T
C
C
C
T
A
G
C
C
A
A
C
A
G
G
A
G
A
G
G
A
G
G
C
C
T
C
C
T
G
G
G
G
T
T
T
C
C
C
C
28100
A
G
G
G
C
A
G
T
A
G
G
T
C
A
A
A
C
G
A
C
C
T
C
A
T
C
A
C
A
G
T
C
T
T
C
C
T
T
C
C
T
C
T
T
C
A
A
G
C
G
28150
T
T
T
C
A
T
G
T
T
G
A
A
C
A
C
A
G
C
T
C
T
C
T
C
C
G
C
T
C
C
C
T
T
G
T
G
A
T
T
T
C
T
G
A
G
G
G
T
C
A
28200 |
var(28176):[A:0.39]
C
C
A
C
T
G
C
C
A
G
C
C
T
C
A
G
G
C
A
A
C
A
T
A
G
A
G
A
G
C
C
T
C
C
T
G
T
T
C
T
T
T
C
T
A
T
G
C
T
T
28250
G
G
T
C
T
G
A
C
T
G
A
G
C
C
T
A
A
A
G
T
T
G
A
G
A
A
A
A
T
G
G
G
T
G
G
C
C
A
A
G
G
C
C
A
G
T
G
C
C
A
28300
G
T
G
T
C
T
T
G
G
G
G
C
C
C
C
T
T
T
G
G
C
T
C
T
C
C
C
T
C
A
C
T
C
T
C
T
G
A
G
G
C
T
C
C
A
G
C
T
G
G
28350
T
C
C
T
G
G
G
A
C
A
T
G
C
A
G
C
C
A
G
G
A
C
T
G
T
G
A
G
T
C
T
G
G
G
C
A
G
G
T
C
C
A
A
G
G
C
C
T
G
C
28400 |
var(28355):[C:0.04]
|
var(28387):[C:0.39]
A
C
C
T
T
C
A
A
G
A
A
G
T
G
G
A
A
T
A
A
A
T
G
T
G
G
C
C
T
T
T
G
C
T
T
C
T
G
T
T
TCTGGTGGCT
28450
CTCCCTGGGC TGTGTCTGCA AGGCAGGG
A
A
G
G
CTCTCAGC TGGGTGTGCT
28500 |
var(28479):[:0.33]
TGGCAACCAA GTGGGGTCTG GGCGGGGATC TGTGAGAAGT GCTG
G
GAAAT
28550 |
var(28545):[A:0.01]
GGGGGTGGGA ATTGGTCATG TCCTGATTTC TGCCTTTCCC CTAAATGGGC
28600
CCTAATTTCA AGGAAGAACC CAAGGGGTGC CTTCCCATTC CTTCCATTCT
28650
CTTGCCCCCG CATCATTTGG AAAGCTGTGT GAGGGGCCTG GAACTTAGGG
28700
AGAAAGGTAT TCTT
C
TTTTT T
T
TTTTCCTT CAAACCCACC ATCTAAGTGG
28750 |
var(28715):[T:0.09]
|
var(28722):[C:0.01]
CTACTGCTTT TTTCCCATCT CCACAGCTAT TCAAAACCTA GGCTATGTCC
28800
TAAATAGTGG GTTTGAATAG TATTATGGGT TATTTTAAGC ATTCCTTCAT
28850
TTTGTCTAGA ATCTAGAGTG GTGC
C
T
GGGC AAGGCATTCT GACTTTTGCA
28900 |
var(28875):[G:0.31]
|
var(28876):[G:0.31]
AACTGCTTGC AAATTTACCT CCAGCCTTCC CATAAACCAG AGCTGGACTA
28950
CCCACCTACC TGGGTGGGTG AAGGAAGGGG AAGGGGAAAT GCAGTAAGGT
29000
AGCCCCAGTA GGAGAGAGAG ACGAGTGGGA AGCCCC
A
CTG TGTGCTTC
G
A
29050 |
var(29037):[G:0.02]
|
var(29049):[T:0.38]
AGCGTGAAGA CAGCATTATG CTTGACTGGA AATAACCCCA GAGATCCTTC
29100
CTGTCCATCT TCATGGGAGC CCCCACATCC TGAGGCCACT CTACTCACCT
29150
GGTAGGGCCA GAAATGGGGA AGGGTGAGTC CTGGAGGCTT CTGTCCTCTG
29200
TGGTGCTTCT CTGTGCAAAG ACCAGCACTC TAAAGGCCTG GGGGAAGGTG
29250
GCTGGAGGTT GTTTCCTTGC ATCAGGTCCA AGTGGCTTTG TGTTTGTTAT
29300
TTGGGCCTCA AGCCCGTGGA GTCACTTAAG CCCAGGGGTT CAAGTCCTGG
29350
GGCCTCAGAG ACCAGCTGCC GCCTTGATGT TCCTGGGTAC TAGACCACCT
29400
CTCGTCCACT CTGCTGGCCT GAATTTCTGG CCAACACTTC CAGCCCATGA
29450
GTGGCCCTTC AGGGAAGTCC CACAATGGGT TTTCCCTGGC AGCAACAGCT
29500
TGCAAAACCC CATGTGCTTG GTGGAGCTCA GTGAAGGAGC CAGGGGATCC
29550
CTGAATG
C
CA AATACAGATT TTTGGGAGAT GATATGATCC AGGCTGTATG
29600 |
var(29558):[A:0.01]
ATCTCATGAG CAAAGCCTAT GAGATGTGGC GGACAAACTC ACTCAAAGGC
29650
TTCAGTTCAG TTGTT
T
T
T
T
T
T
T
T
T
T
A
A
T
T
T
T
C
C
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
G
29700 |
REPEAT
G
C
A
G
G
G
T
T
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
T
T
G
C
A
G
T
G
G
A
A
T
G
G
T
A
T
A
A
T
C
T
T
G
G
29750
C
T
C
A
C
T
A
C
A
G
C
C
T
C
G
A
C
T
C
A
C
T
G
T
A
G
T
G
A
T
C
A
A
G
C
G
A
T
C
A
C
C
A
C
T
A
C
T
A
C
29800
T
C
A
C
T
G
T
A
G
G
A
C
C
A
A
G
C
A
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
29850 |
var(29836):[C:0.37]
|
var(29837):[T:0.50]
A
C
T
A
C
A
G
G
C
G
T
G
C
A
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
A
T
A
T
T
T
T
T
T
G
T
A
G
A
G
29900 |
var(29878):[G:0.01]
A
T
G
A
G
G
T
C
T
C
A
C
T
A
T
G
T
T
G
C
A
C
A
A
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
G
C
T
C
A
A
G
29950
C
A
A
C
C
C
T
C
C
T
T
T
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
T
T
A
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
30000
A
C
C
A
C
G
C
C
C
A
G
TGGCTT
C
AG TTCATTTCTA TGCAAGG
C
AG AGCTGCTGAC
30050 |
var(30018):[T:0.37]
|
var(30038):[T:0.05]
ATCAGTGCCT CCCTGGATCT GAGGTTCTGC AGAGCTGCTG A
T
T
C
C
A
T
C
T
C
30100 |
NOT SCANNED
A
G
T
A
G
G
A
A
A
T
G
A
G
G
A
A
C
T
G
G
A
C
C
A
A
G
A
C
C
C
A
G
A
A
C
A
A
C
C
C
A
T
A
A
G
A
T
C
C
T
30150
C
A
G
G
T
G
T
C
T
G
A
A
G
A
C
C
T
C
T
T
T
A
A
T
G
T
A
C
C
T
C
T
C
C
A
T
T
C
T
C
T
G
C
A
G
T
G
A
T
T
30200
C
C
T
A
A
C
A
T
A
A
C
A
C
T
T
A
A
A
A
T
G
A
A
A
A
G
A
G
C
C
C
A
T
T
C
A
G
T
T
C
A
C
C
A
G
A
C
A
T
G
30250 |
REPEAT
A
T
C
T
G
A
G
C
C
C
T
T
A
C
A
G
T
G
T
A
C
C
A
G
G
C
C
C
A
C
G
G
G
A
T
G
C
T
G
G
A
A
C
T
A
C
A
G
A
G
30300
G
T
G
A
C
T
A
A
G
C
C
A
C
C
T
T
T
C
T
G
G
C
T
C
A
T
G
G
G
G
A
G
C
T
C
A
C
C
T
C
T
A
T
G
G
G
G
G
A
A
30350
G
A
C
A
G
G
T
A
T
G
C
C
A
C
A
G
A
T
A
G