PCSK9 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
AAGTTTCTGA GGTTGGAGAA GGTAGCCAGG GAGCATAAAA GTGAGTTCTA
50
TCTACTCATT CAGTCTATGA GGGGAAGGCA ATGGCTAGAA AAGCATTTTG
100
AGGGACAGTA AAAGTG
G
CAT TTTTAGAGGG AGGAAGCCTT GAGGATGCTT
150 |
var(117):[T:0.01]
GTGGGGTGAA GGGAAAGAAT AACTCAGGAA GAGGCATTTA GGGATAAGAG
200
GAGGAGAGGA GATAGTGGAG GTAGGTG
A
TC CCTGCGGAGG CCAGATTGGG
250 |
var(228):[G:0.15]
GCAGGGGAGT GTCAGCTGAG TATAAGAGGA TGGTCCCCTC TGCCCTGAAG
300
GAGGAAGGCA GGAGGG
G
AAA AGGATGGGTG TTGACCCAGA AAGCACTTGT
350 |
var(317):[A:0.01]
GGTGGAGGGG AGGCCCCAGA AGAGGCTTCT GACTTACCCT GATTGCTGGT
400
ACCTCTCAGG GGAGCTGGCT GCTTATTTGC TGGCCAGGGT GTGGGGGAAC
450
CCATTTGAGA AGAGGGAGAA GGTGACACAA TTCCTTTGGG CAACTTATGG
500
GAGGGGTAAT TGGTGAGGGA TGAAAGCCCT GCCAAGTG
G
C AGGAGGCCCA
550 |
var(539):[T:0.04]
GCTGGGGCTG CCCCTCATAA GAGTGCAGTG GAGGATATGG GATGAGAAGT
600
GACTGCCCCT CTGGTTCCAT CTGTCGCAGA GCCCAGGGTG CTTCCTTCCT
650
CCCCCACCTC CCTCAGAACA CACCCACTGC ATGCTGGACA GCAGCCCCCT
700
TCCTGGGCCT GGGGACATCC ATGTCCCTCT GTGCACAGGC TTCATCATTC
750
TCTGGGTGCA CGGTAACGAC CCCGGTAGGT GAGAGGCCAA GGTCCCAAAG
800
GGGAGCAGCA GGGAAAGTTA GCTCCCATCT ATTCTTGCTC CAGGGGAGGC
850
CTTTGATGAG GAAGCTGCCA AAAGCACATT GCAAATACAA TTCCAATTAC
900
AGGCAACAGG AAGGAGAACC ACCTCTGCCA CCTCTGTCAG CAAACCATGA
950
GCTCCTACTC TGTGCTG
C
GA TGGCGGGCTC GATGGGGATA ACTCTGACCT
1000 |
var(968):[G:0.23]
TACCTCATGG AGTCACTGTC AACCCACTGG TTGCACT
G
T
C TTTGTGCACT
1050 |
var(1038):[:0.99]
GGCTCTCTGG AGTGAGGTCT TTGCAAACAA AGTGGAAAGA GCATCAACTT
1100
TGGACTCCAG CACCTAGATT CAGAGCAGGC CATTTCACTC GGAATCTGCT
1150
GTGCATCTGC AAGGGAGGAT C
A
TAAATTCG
C
CTTTGTTTC TTCCCAGTAT
1200 |
var(1172):[T:0.01]
|
var(1181):[T:0.01]
CGACAGCCCT TCCAGAAA
G
A GCAAGCCTCA TGTCATGCCA CATGTACAAT
1250 |
var(1219):[A:0.04]
CTGAGGCCAG GAGCTCTCTT TCCCCTTTTC ATCCTCCTGC CTGGTACACA
1300
ATAGGTGTTT ACTGGATGCT TGTCCAGTTG ATTTCTTGAA CATGGTGTGT
1350
AAAAGGAATC TTTGC
A
AATT GAATCTTCTG GAAAGCTGAG CTTGTGCCTA
1400 |
var(1366):[G:0.05]
CCATAGAATT CTGAATGTAC CTATATGAC
A
TCTTTGCAAA CTTAAAACCT
1450 |
var(1430):[G:0.30]
GAATCTTTGT AGTATAAATC CCTTGAAATG CATGTAGGCT GGACATCAAA
1500
AGCAAGCAAT CTCTTCAAGG AGCAGCTAGT TGGTAAGGTC AGTGTGCAGG
1550
GTGCATAAAG GGCAGAGGCC GGAGGGGGTC CAGGCTAAGT TTAGAAGGCT
1600
GCCAGGTTAA GGCCAGTGGA AAGAATTCGG TGGGCAGCGA GGAGTCCACA
1650
GTAGGATTGA TTCAGAAGTC TCACTGGTCA GCAGGAGACA AGGTGGACCC
1700
AGGAAACACT GAAAAGGTGG GCCCGGCAGA ACTTGGAGTC TGGCATCCCA
1750
CGCAG
G
GTGA GAGGCGGGAG AGGAGGAGCC CCTAGGGCGC CGGCCTGCCT
1800 |
var(1756):[T:0.01]
TCCAGCCCAG TTAGGATTTG GGAGTTTTTT CTTCCCTCTG CGCGTAATCT
1850
GACGCTGTTT GGGGAGGGCG A
G
GCCGAAAC CTGATCCTCC AGTCCGGGGG
1900 |
var(1872):[A:0.03]
TTCCGTTAAT GTTTAATCAG ATAGGATCGT CCGATGGGGC TCTGGTGGCG
1950
TGATCTGCGC GCCCCAGGCG TCAAGCACCC ACACCCTAGA AGGTTTCCG
C
2000 | Exon 1 |
UTR
A
G
C
G
A
C
G
T
C
G
A
G
G
C
G
C
T
C
A
T
G
G
T
T
G
C
A
G
G
C
G
G
G
C
G
C
C
G
C
C
G
T
T
C
A
G
T
T
C
A
2050 |
var(2046):[T:0.01]
G
G
G
T
C
T
G
A
G
C
C
T
G
G
A
G
G
A
G
T
G
A
G
C
C
A
G
G
C
A
G
T
G
A
G
A
C
T
G
G
C
T
C
G
G
G
C
G
G
G
2100
C
C
G
G
G
A
C
G
C
G
T
C
G
T
T
G
C
A
G
C
A
G
C
G
G
C
T
C
C
C
A
G
C
T
C
C
C
A
G
C
C
A
G
G
A
T
T
C
C
G
2150
C
G
C
G
C
C
C
C
T
T
C
A
C
G
C
G
C
C
C
T
G
C
T
C
C
T
G
A
A
C
T
T
C
A
G
C
T
C
C
T
G
C
A
C
A
G
T
C
C
T
2200
C
C
C
C
A
C
C
G
C
A
A
G
G
C
T
C
A
A
G
G
C
G
C
C
G
C
C
G
G
C
G
T
G
G
A
C
C
G
C
G
C
A
C
G
G
C
C
T
C
T
2250 |
var(2227):[T:0.05]
A
G
G
T
C
T
C
C
T
C
G
C
C
A
G
G
A
C
A
G
C
A
A
C
C
T
C
T
C
C
C
C
T
G
G
C
C
C
T
C
A
T
G
G
G
C
A
C
C
G
2300 |
var(2265):[A:0.03]
M G T 3
T
C
A
G
C
T
C
C
A
G
G
C
G
G
T
C
C
T
G
G
T
G
G
C
C
G
C
T
G
C
C
A
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
2350 |
var(2335):[:0.82]
V S S R R S W W P L P L L L L L L 20
C
T
G
C
T
G
C
T
C
C
T
G
G
G
T
C
C
C
G
C
G
G
G
C
G
C
C
C
G
T
G
C
G
C
A
G
G
A
G
G
A
C
G
A
G
G
A
C
G
G
2400
L L L L G P A G A R A Q E D E D G 37
C
G
A
C
T
A
C
G
A
G
G
A
G
C
T
G
G
T
G
C
T
A
G
C
C
T
T
G
C
G
T
T
C
C
G
A
G
G
A
G
G
A
C
G
G
C
C
T
G
G
2450 |
var(2430):[T:0.01]
|
var(2434):[T:0.01]
D Y E E L V L A L R S E E D G L 53
C
C
G
A
A
G
C
A
C
C
C
G
A
G
C
A
C
G
G
A
A
C
C
A
C
A
G
C
C
A
C
C
T
T
C
C
A
C
C
G
C
T
G
C
G
C
C
A
A
G
2500 |
var(2451):[T:0.05]
A E A P E H G T T A T F H R C A K 70
GTGCGGGTGT AGGG
G
TGGGA GGCCGG
G
GCG AACCCGCAGC CGGGACGGTG
2550 |
var(2515):[A:0.12]
|
var(2527):[A:0.01]
CGGTGCTGTT T
C
C
T
C
T
C
G
G
G
C
C
T
C
A
G
T
T
T
C
C
C
C
C
C
A
T
G
T
A
A
G
A
G
A
G
G
A
A
G
2600 |
REPEAT
|
var(2587):[A:0.01]
T
G
G
A
G
T
G
C
A
G
G
T
C
G
C
C
G
A
G
G
G
C
T
C
T
T
C
GCT TGGCACGATC TTG
G
GGACTG
2650 |
var(2644):[A:0.32]
CAGGCAAGGC GGCGGGGGAG GACGGGTAGT GGGGAGCACG GTGGAGAGCG
2700
GGGACGGC
C
G GCTCTTTGGG GACTTGCTGG GGCGTGCGGC TGCGCTATTC
2750 |
var(2709):[T:0.05]
AGTGGGAAGG TTCGCGGGGT TGGGAGACCC GGAGGCCGAG GAAGGGCGAG
2800
CAGAGCACTG CCAGGATATC CTGCCCAGAT TTCCCAGTTT CTGCCTCGCC
2850
GCGGCACA
G
G TGGGTGAAGG AGTGAATGCC TGGAA
C
GTAC TGGGAACTGC
2900 |
var(2859):[A:0.01]
|
var(2886):[G:0.05]
ACCAGGCACA GAGAAAGCGG GCTTGCCATT ATAGTGGGTT CCGATTTGGT
2950
TTGGAAAACA TGGGCAGCGG AGGGTGGAGG GCCTGGAGAG AAGGCCCTAC
3000
CCGAGACAGG GGCGGGGTGG GAAGGACGGC AGATGCTGGG AGCACGAGGC
3050
AATTTCTTTA TGACACAGAA CTCATGCTCT AGTATTCC
A
T CTGTTTCAGC
3100 |
var(3089):[G:0.01]
CGAAGAAAAG AACCAGCTGA AGGGGCAGGG GAGAAGGGGC GGAGGTATTC
3150
TCGAGGCCCA TTGGCGTC
C
T TTAGGACTCA GGCAGGGAAG GGCCCTTGGT
3200 |
var(3169):[A:0.01]
GCTCTGGAGC CGGAGGTGGT GCGCCTGGTA CTGGGACCCC GGA
G
CTGAGC
3250 |
var(3244):[A:0.04]
CCGGCGCCTC AGCCCACCTG GCTGTCTGCC GACCGTGTGC GGGGCGAGTT
3300
TGCTCAACAA CTCTGCCAGC TTCTGGCCCT CAGGCTGTGG GAAGCTTCTT
3350
CCCGGGGCGA GACCACTAGC TTTTTCTAAG TATTACCAGC CCAGGACTTG
3400
G
C
T
G
AGGTTC TGTGTCCCCC AGCT
T
G
G
A
G
T
C
A
G
A
T
G
T
G
G
G
G
T
T
G
A
A
T
C
T
T
3450 |
var(3402):[T:0.02]
|
var(3404):[A:0.06]
|
REPEAT
G
G
C
T
T
C
C
T
C
T
C
A
C
T
A
G
C
T
G
T
G
G
T
G
C
T
T
G
A
C
A
A
G
T
C
A
C
T
T
A
T
C
C
T
T
G
A
G
C
C
3500
T
C
C
A
T
T
G
C
C
T
A
A
T
C
T
T
T
A
A
A
A
G
G
G
A
G
G
T
G
A
C
A
A
T
C
G
T
C
C
C
T
A
C
G
G
C
T
C
A
G
3550
TGGCAGCAGA TGGGGAGATG AAGGGAAAGT TCTGTTGACC ATGAGTGAAC
3600
TTACAATGCA AGCCC
C
GGGG GGATCACTTG CAGTTTTGTC CCTGTCTGCA
3650 |
var(3616):[T:0.01]
GTGTGACCTG TTGGTGACAT TGTCTTTGCT CCAAACCACA GCTCCTGGGG
3700
CAGAGGGGAA AATTCTGCCA CTCACAGCTG CCTGCCCACG CTTCTGTCTG
3750
AGTGTGCTGG GTGGCAGGAT GGCAAGTCCT TACTCAGCTC AGTATAGCCC
3800
TCTTCCTTGT TCCCTGAGCC TTTGACTTTC TCGAGGGATG TTGTGGGGTT
3850
GTGGC
C
A
G
G
A
T
A
A
G
A
A
A
G
G
G
C
A
T
T
T
C
A
A
G
T
T
A
C
C
A
C
T
G
C
T
C
C
A
A
A
A
C
A
A
C
3900 |
REPEAT
T
G
T
T
C
T
G
G
A
A
A
T
A
G
T
G
A
G
T
A
C
C
C
C
A
T
C
C
T
G
A
G
A
G
G
T
G
A
G
T
A
A
G
C
A
G
A
G
G
C
3950
T
G
T
A
T
G
A
C
C
A
C
C
T
G
A
A
C
C
A
A
G
C
C
C
T
T
G
A
G
G
A
T
G
T
T
T
C
T
T
C
T
C
T
G
G
T
G
G
A
A
4000
G
T
T
T
G
G
A
A
C
A
G
G
A
G
C
C
T
C
C
T
C
A
A
G
T
T
C
A
T
T
TATTCATTCA TTCAATGGTT
4050
ATTTTGTGGG AATCGAA
T
TT AGAATGAAAA TATTTTTTGG CAAGCA
G
AAA
4100 |
var(4068):[C:0.01]
|
var(4097):[A:0.01]
ATAATT
T
T
T
A
G
A
C
C
A
A
T
C
C
T
T
T
T
C
T
T
T
T
A
G
T
C
A
T
G
A
G
A
A
A
C
T
G
A
G
G
C
C
C
A
4150 |
REPEAT
|
var(4139):[C:0.01]
G
A
G
A
G
A
G
G
A
G
G
T
C
A
C
C
C
C
A
G
G
T
G
C
A
T
T
A
G
A
A
C
T
G
G
G
T
T
T
C
C
A
G
A
A
C
T
G
A
C
4200
A
C
T
C
C
A
C
T
G
C
A
C
A
G
A
G
T
A
C
T
C
T
C
C
C
A
A
T
T
C
A
T
T
C
A
A
T
T
T
T
T
A
T
T
T
A
G
C
GG
4250
AAGGCATTTT CAGATGGGTC TTTGAAGCAT TAGTAGGAGT TCAG
C
GATGA
4300 |
var(4295):[T:0.03]
TGGTGTCATG AGAATTTTAT TCTAGGATTA GGAGGTACCA TGAACAAAGA
4350
TACAGAGCTG GGAAAACCAG AGGTGGAAGA TAAGGAGCAC ATGTCCACAG
4400
T
T
C
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
C
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
4450 |
REPEAT
|
var(4432):[T:0.43]
G
G
A
G
T
G
C
A
A
T
G
G
T
G
C
A
G
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
A
T
C
T
G
T
C
T
C
C
C
G
G
G
T
T
4500
C
A
A
G
T
G
G
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
A
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
A
C
C
4550 |
var(4532):[T:0.01]
T
G
C
C
A
C
C
A
C
G
C
C
C
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
A
G
G
G
G
T
T
T
C
A
4600
C
C
A
C
G
T
T
G
G
C
C
A
G
G
C
T
A
G
T
C
G
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
C
T
C
A
G
T
G
G
A
T
C
C
G
A
4650 |
var(4630):[C:0.01]
G
G
A
G
G
T
G
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
C
G
A
A
T
T
A
C
A
G
G
T
G
T
4700 |
var(4665):[C:0.41]
G
A
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
C
T
C
C
A
C
A
G
T
T
C
T
T
T
A
T
C
C
A
C
C
G
T
C
T
G
A
A
A
T
G
T
A
4750 |
REPEAT
|
var(4739):[A:0.11]
A
A
A
T
G
T
T
A
C
G
A
A
A
A
C
C
A
A
A
A
G
T
T
T
T
T
T
T
T
G
T
G
A
T
T
T
A
T
T
T
G
A
T
G
G
T
A
G
C
A
4800
C
C
T
G
A
C
G
T
G
A
A
C
T
G
A
C
A
T
G
A
G
A
T
T
A
T
T
T
T
T
A
A
T
T
T
A
G
T
T
G
T
G
T
G
A
A
T
A
T
G
4850
C
A
T
A
T
T
C
A
T
A
T
A
T
T
T
T
G
C
T
G
C
A
T
A
G
A
T
T
A
C
A
G
T
A
T
G
C
A
G
C
T
C
C
A
G
A
T
T
C
T
4900
T
C
C
A
A
G
C
A
G
A
C
T
C
T
G
A
T
T
G
C
C
C
A
T
T
A
C
T
G
C
C
T
T
T
C
T
A
A
A
A
T
C
C
A
A
A
C
A
A
G
4950 |
var(4913):[T:0.01]
T
T
C
T
G
A
G
G
T
T
C
A
A
A
A
C
C
G
A
T
T
T
G
G
C
C
C
T
A
A
G
G
C
T
T
T
G
G
G
T
A
A
A
G
G
G
G
G
T
G
5000 |
var(4953):[T:0.01]
|
var(4969):[T:0.12]
|
var(4976):[T:0.01]
|
var(4995):[A:0.01]
G
A
C
TCTGTTC TACTCTGACT GGAGTCCAAG ATGCATATAT ACAGAGATAT
5050
GGGTGATGGG GCTGCAAG
G
T AGGTTGAGGT AGGGGCCAAG GAGGAGCATG
5100 |
var(5069):[A:0.04]
GAGTTTGGAC TTGATTCATG AGGCTGTGGG GAGCCAGTGA AGGTTCTTAA
5150
GCAGGTATGT
C
TGCCTGAGA GCAGTTGGAG CAGACAAGAG CTAAAAACCA
5200 |
var(5161):[T:0.01]
AACAAATCAC CATAGATAGT GGC
T
G
C
T
A
T
A
A
T
T
T
G
T
T
T
G
T
C
C
C
C
T
C
C
A
A
A
5250 |
REPEAT
T
C
T
C
A
T
G
T
G
G
A
A
A
T
T
T
G
G
T
C
C
T
C
A
G
T
G
T
T
G
G
A
A
G
T
G
G
G
G
C
C
T
A
A
T
G
G
G
A
G
5300
G
T
G
T
T
T
G
G
G
T
C
A
T
G
G
G
G
G
A
G
G
A
A
C
C
C
C
T
G
T
G
A
A
A
G
G
C
T
T
G
G
T
G
C
C
G
T
C
C
T
5350
T
G
T
G
A
T
A
A
T
G
A
G
T
A
A
G
T
T
C
T
C
C
C
G
C
T
A
T
G
A
T
T
T
C
C
C
T
T
G
A
A
G
G
C
T
G
A
T
T
A
5400
T
T
A
A
A
A
A
G
A
G
C
T
T
G
G
C
A
C
C
T
C
C
C
T
C
T
C
T
T
C
T
C
T
C
T
T
G
C
T
T
C
T
T
C
T
C
T
T
G
C
5450
C
A
T
G
T
G
A
T
T
G
A
T
C
T
C
T
G
C
A
C
A
T
G
T
A
G
G
C
T
C
C
C
C
T
T
C
A
C
C
T
T
C
T
G
C
C
A
T
C
A
5500
G
T
G
A
A
A
G
C
A
G
C
T
T
A
A
G
G
C
C
C
T
C
A
C
C
A
G
A
A
G
C
A
G
A
T
G
C
T
G
G
T
G
C
C
A
T
G
C
T
T
5550 |
var(5504):[G:0.01]
C
C
T
G
G
A
G
A
G
C
T
T
G
C
A
G
A
A
T
C
A
T
G
A
G
C
T
G
A
A
T
A
A
A
T
C
C
C
T
T
T
T
C
C
T
T
G
T
A
A
5600
A
T
T
A
C
T
C
A
C
C
T
T
C
A
G
G
T
A
T
T
C
C
T
T
T
A
T
A
T
A
G
C
A
A
C
A
C
A
A
A
A
G
G
A
C
T
A
A
G
A
5650
C
A
GTGGCCTT GACTTTTCTC T
C
TCTTTAAG AAGTGTTGCC TTTGCTCACT
5700 |
var(5672):[G:0.01]
TAGTCATCCC TTCTGCCTGC ATTTGTAGAG CATCTGGATG GGAGATTTAT
5750
ATAACCGTC
A
C
T
C
T
T
G
A
C
T
T
T
C
C
C
A
G
C
A
G
G
C
C
T
A
T
G
T
C
A
T
A
G
G
T
A
C
T
G
T
G
5800 |
REPEAT
G
T
C
T
C
T
A
C
A
A
T
A
C
A
G
C
A
G
A
G
G
T
A
T
C
T
G
A
G
G
C
T
C
C
G
A
G
A
G
G
T
T
G
A
G
T
G
A
C
T
5850
T
G
C
T
C
A
T
G
G
C
T
G
C
A
C
A
A
C
C
A
G
T
A
A
A
T
A
T
T
G
G
A
G
C
T
G
G
A
A
T
T
C
A
G
G
T
C
C
A
C
5900
G
G
T
T
T
C
C
T
G
G
C
T
C
C
A
A
A
G
C
C
C
A
T
G
A
T
T
T
T
T
T
C
C
C
T
C
A
A
T
T
T
A
T
T
C
T
G
ACT
5950
GGGGCATGGG GGAGGGGGTG GCCTTTGGGC AGGGCCACCA GGAGC
C
ACCA
6000 |
var(5996):[G:0.30]
GGCCCGTAGA GAGCTGGGTG CAGGTACAGA GGAAAACCTG TTGTCGAGTG
6050
TGGCCCGTAG TTCCCATTTT TGCCTGAATG GCACATTTGA AAGTGTTATA
6100
TAAC
C
ATGTG AATAATAATA GTTGGCCTAT ATGAGTT
T
TT TAATTTGCTT
6150 |
var(6105):[T:0.01]
|
var(6138):[C:0.11]
TTTGGTCCGC ATTTGGTAAC TTCTTTATCA TCTACTATAC TCTGTTGTGT
6200
CTCTTTTGTT GTAATTTGTA AGTAGGGGTG AGATAAAGTA CACCTAGGGT
6250
TTGCTGGGTT TCTTCCATGT CATCATGTTC CTCCTTGCAT GGGGCCAG
G
A
6300 | Exon 2
D 71
T
C
C
G
T
G
G
A
G
G
T
T
G
C
C
T
G
G
C
A
C
C
T
A
C
G
T
G
G
T
G
G
T
G
C
T
G
A
A
G
G
A
G
G
A
G
A
C
C
C
6350
P W R L P G T Y V V V L K E E T 87
A
C
C
T
C
T
C
G
C
A
G
T
C
A
G
A
G
C
G
C
A
C
T
G
C
C
C
G
C
C
G
C
C
T
G
C
A
G
G
C
C
C
A
G
G
C
T
G
C
C
6400
H L S Q S E R T A R R L Q A Q A A 104
C
G
C
C
G
G
G
G
A
T
A
C
C
T
C
A
C
C
A
A
G
A
T
C
C
T
G
C
A
T
G
T
C
T
T
C
C
A
T
G
G
C
C
T
T
C
T
T
C
C
6450
R R G Y L T K I L H V F H G L L P 121
T
G
G
C
T
T
C
C
T
G
G
T
G
A
A
G
A
T
G
A
G
T
G
G
C
G
A
C
C
T
G
C
T
G
G
A
G
C
T
G
GTGAGCCACC
6500
G F L V K M S G D L L E L 134
CTTTTTGGGA ATGGCACTTC CTGATAGGGC TGGGCCACTG CATATACACT
6550
GGGGACTGTG CTTAGTAGGC CCATTGCTGA AAATCAGAAG GGG
A
C
A
G
C
A
A
6600 |
REPEAT
G
T
A
T
G
T
A
T
T
G
A
G
C
A
C
T
T
A
T
C
G
G
G
T
A
C
C
A
A
G
C
A
C
A
G
T
A
A
C
T
A
C
T
G
G
C
T
T
T
C
6650
T
G
T
A
T
A
G
A
A
T
T
C
C
C
T
T
T
A
A
G
C
C
T
G
G
C
C
A
T
G
C
C
C
C
A
G
T
G
G
T
A
C
G
T
C
T
A
T
C
T
6700 |
var(6655):[C:0.18]
T
C
A
T
T
T
G
A
A
A
G
A
C
G
A
G
G
A
G
A
C
T
G
A
A
G
T
T
C
A
G
A
G
G
G
G
A
C
C
A
C
A
C
A
G
A
C
A
G
C
6750 |
var(6722):[C:0.14]
T
A
G
G
G
G
T
A
G
A
G
C
C
T
G
G
A
T
C
A
A
A
C
C
C
A
T
T
G
G
T
C
T
G
C
C
T
G
C
C
A
G
CCATTCTT
6800
GTGCCAATGC ATCTGCTGCC TACGGAAACC TGTAGGGACA AGGCCCTGGG
6850
ATGTTCAGTG GAGCCTGAGT CATTTTATAA AAAAGCATGA CTCTAGGGTC
6900
CAAAATTCCT TTGAAGCTGT TGCTATCCAG AGTGAAGTCC CTTCTTTAGG
6950
ACAGGGTGGC CCTCCTCCCT CCTGGATGTC ACATCTTCGG TGGAGGGGCA
7000
GAAAGGGGAC TGGGTATTCT CCTCACCCTG GCCCTAGTGC TTCAAATCTT
7050
AAAAAAACGT TTTTATTTGT GCTTCTGCAC CACCTTCTAG CCCACCTCGT
7100
TTCCTGGCCT CTAACTTGAT GAGAGCGTGT GTCATTTTCA CACTGATTCT
7150
CCACATGGCA GGCGGTGCTT CTTAGCCTCC TGCAGACAGT GAGGCCCCAC
7200
GGT
C
T
T
G
T
C
C
A
A
G
G
T
C
A
C
A
C
A
G
C
G
T
G
T
A
A
T
G
G
G
C
A
G
G
G
T
C
A
G
A
G
T
C
T
G
G
A
7250 |
REPEAT
G
T
C
T
G
G
A
C
C
T
G
G
G
T
C
T
C
C
T
A
G
C
T
GCACTGC ACTGCTGCCC CATGGGTTAA
7300
TCAGCTCAGC ATACCGTGGC TGAACAGCTA CCTCATACCA AGGCCTGTGG
7350
CGCCATGACA GGGATTGACA GGGTCCCTGC CTTGGAAACC CGTAGTCTAA
7400
GTAGAGGAGA CTGACAAGTC AATGCCTTCC ATCAGTCTGC
T
C
A
A
C
A
C
A
C
G
7450 |
REPEAT
T
T
T
A
C
C
A
A
G
T
G
C
C
T
A
C
T
G
T
G
T
G
C
T
G
C
A
G
A
G
G
C
G
A
A
G
A
T
G
A
C
A
C
A
G
C
T
C
A
G
7500
G
C
C
T
T
T
C
C
C
T
T
G
A
G
C
T
T
A
C
A
G
T
T
C
A
G
G
A
G
G
A
G
A
G
A
C
T
G
A
C
CAGTGACTGC
7550 |
var(7532):[:0.01]
CAGTACAGTT GACTATGGGA CAATGTGCTC AGCCTTGGGG AGAGACG
A
A
G
7600 |
var(7598):[:0.20]
AAGGTACCCG TATAGCACCA GATGACAGGC ACGAGCCCCA CAGGCCAGGG
7650
CAGCTGCTCA GAGGAGAGTA GGCCAAGCAG AAGGCAAACA GAAGGCTGCA
7700
GGCATTTGCC ATCGAGAGCT GGACTT
C
A
A
A
C
T
G
G
G
C
A
T
C
A
T
A
C
C
A
G
C
C
T
G
7750 |
REPEAT
G
G
T
T
C
G
A
G
T
C
C
T
G
C
C
C
A
G
C
C
C
C
T
T
A
T
T
G
G
C
T
G
T
C
T
A
A
C
C
C
T
G
A
G
C
A
A
A
T
C
7800 |
var(7754):[C:0.06]
C
C
T
T
C
A
C
C
T
C
T
C
T
G
A
G
C
C
T
C
A
T
T
C
C
T
C
T
A
T
C
T
G
T
A
A
A
C
C
A
G
T
T
A
T
A
A
T
A
A
7850
T
T
G
G
A
A
C
A
T
T
C
A
T
T
T
A
A
G
G
A
C
T
A
A
A
T
G
A
G
G
T
C
G
T
G
A
A
G
C
A
T
T
C
A
G
C
A
G
A
T
7900 |
var(7851):[C:0.12]
|
var(7888):[A:0.01]
G
C
T
A
G
G
T
A
C
G GAAACTCGCT G
A
A
G
T
G
G
G
G
G
C
A
G
G
T
T
A
A
G
A
A
G
C
C
T
C
T
G
G
G
7950 |
REPEAT
G
A
T
A
C
G
A
A
G
G
C
A
T
C
C
A
G
G
G
A
C
T
A
G
T
T
G
T
G
G
C
A
G
G
A
G
G
C
T
G
T
T
A
C
C
A
C
T
T
A
8000
G
G
T
C
T
G
A
A
G
G
G
T
A
A
G
G
A
G
A
G
G
G
A
A
T
A
G
C
T
T
T
C
C
C
T
C
T
G
C
C
C
A
G
T
T
G
G
A
G
C
8050
C
G
G
T
G
G
C
A
T
G
G
A
G
G
A
G
A
G
G
C
T
G
C
C
T
G
T
G
G
G
G
A
A
T
C
A
C
C
C
G
A
G
G
G
T
T
C
A
C
C
8100
G
C
T
G
C
C
A
T
G
C
G
C
A
G
G
G
A
G
T
C
A
G
G
A
G
G
T
A
G
G
G
A
G
G
G
A
G
T
G
G
G
G
C
A
G
A
T
G
C
A
8150 |
var(8110):[T:0.01]
C
A
C
C
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
T
C
T
G
T
T
G
C
C
C
A
G
A
C
T
G
G
A
G
T
G
C
A
G
T
8200 |
REPEAT
G
G
T
G
C
C
A
T
A
T
C
T
G
C
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
8250
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
8300 |
var(8251):[G:0.06]
|
var(8254):[T:0.43]
G
A
C
T
A
C
A
G
G
T
G
T
G
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
A
T
A
G
8350
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
T
C
G
A
C
C
T
C
A
8400 |
var(8390):[C:0.03]
G
G
T
G
A
T
C
C
C
C
C
C
A
C
C
T
C
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
G
C
G
T
G
A
G
8450 |
var(8407):[:0.56]
|
var(8417):[T:0.04]
T
C
A
C
C
G
C
T
C
C
C
A
G
C
T
G
C
T
G
A
T
G
C
A
C
T
C
T
T
G
T
C
C
T
T
C
T
A
A
C
T
C
C
T
G
C
T
A
G
T
8500 |
REPEAT
G
C
C
T
C
C
C
A
T
T
G
G
C
T
G
A
G
C
C
C
A
A
C
T
G
G
A
A
G
C
T
T
T
G
C
A
A
G
G
G
A
G
C
T
G
G
T
G
C
T
8550
G
C
A
G
T
T
T
G
C
A
C
T
G
A
G
C
A
G
G
C
T
G
G
A
G
A
A
G
G
C
T
G
G
A
G
A
A
T
A
G
A
C
T
A
G
G
G
G
A
C
8600
A
A
A
CCGAATT GCCAGTGCTG TTATGTCATG ATTTAGGCAT GGAGTCCAGG
8650
GCCTGAGCTT CACTCCATGT CCATCCTGCC CAGAGCCTTG GCACAGCCTG
8700
GCTCCCAGAC AAGATGTCAA GTTCAGAATC CTTCCTAAAA GGAATCCTCT
8750
ATGCCAGACC GTGTTGCAGG GATATGGG
A
G TGCTGGGCTC CCAGCCTGAT
8800 |
var(8779):[G:0.29]
C
A
AGGAGCGA GAAAACTCAG GCTCCTAGTC TGTCCTCCGG GGCACTAGCA
8850 |
var(8802):[T:0.01]
GGGACAAGGT GGGAGGCTGC TGGGCTGGGA TGTGGGGACA GGTTTGATCA
8900
GGTAAGGCCA GGCTGTGGCT GTGTTTGCTG CTGTCCAAAT GGCTTAAGCA
8950
GAGTCCCCCG GCCTCTCTGG CTTCTGCAG
G
C
C
T
T
G
A
A
G
T
T
G
C
C
C
C
A
T
G
T
C
9000 | Exon 3
A L K L P H V 141
G
A
C
T
A
C
A
T
C
G
A
G
G
A
G
G
A
C
T
C
C
T
C
T
G
T
C
T
T
T
G
C
C
C
A
G
A
G
C
A
T
C
C
C
G
T
G
G
A
A
9050
D Y I E E D S S V F A Q S I P W N 158
C
C
T
G
G
A
G
C
G
G
A
T
T
A
C
C
C
C
T
C
C
A
C
G
G
T
A
C
C
G
G
G
C
G
G
A
T
G
A
A
T
A
C
C
A
G
C
C
C
C
9100
L E R I T P P R Y R A D E Y Q P 174
C
C
G
GTAAGAC CCCCATCTGT GCCCTGC
C
CC ACCCCATCTG AGCTGAATCC
9150 |
var(9128):[T:0.01]
P 175
ATTTGCTCTG CCCTGGCCTG GCCTCCCTGC TGGTGGTTTC CACTTCTCGG
9200
GGGGCTTTGG GACTCAGCAC CTCCACTGAC CCCTTTTTTT CTGTCCCATC
9250
CCCATCCCCT GCAGCCCCCA CTGCCTGCCT TCCTGTTGCC CCACAAATGC
9300
AAAAGTCTTG CCTTAAATGA TCCTCTTTTC CT
C
CTTTTCT CTTGTTTTCC
9350 |
var(9333):[T:0.39]
TTTTCTCACC ATTTGGAATG GCCCAGCAGG CTGCACTTAC CTTGGAAGGA
9400
GGGTTCATCT GATGGTGACT CTACCTAGGG CCCCCAGGCC TCTATAACTC
9450
CCAGTGCCCT GCAGACTGGA CCAGATCCTT TAATGGGATA GACACAACCC
9500
TGTCTGGGAT GCCTCTGCCT ACCTTCCTGT TTTGCTGCTC CACCTGCCTC
9550
CAGCTCCGTT TGGCTTCCTG GGGCTCCCTG CCTGGGCCAC TTTGTGTCTT
9600
CCCTCTAGGC CTTTCTTTCC ACTGTTCCCT CTGCCTGGTG
T
G
G
C
C
T
G
G
C
T
9650 |
REPEAT
A
T
G
G
A
A
G
G
G
A
G
G
G
A
G
G
A
G
G
A
G
C
G
G
C
C
A
T
G
G
A
A
A
A
C
G
G
T
C
T
G
C
A
T
T
C
T
A
G
C
9700 |
var(9666):[C:0.11]
A
G
G
G
A
C
T
T
G
C
A
G
G
T
G
G
C
A
A
T
T
C
A
G
T
C
G
G
G
G
A
A
G
A
C
T
C
T
A
G
A
T
G
C
A
C
C
T
G
G
9750
C
C
T
G
A
G
G
A
G
A
G
A
A
T
G
A
A
G
G
G
T
T
C
T
A
G
T
T
G
G
A
C
T
G
T
G
T
T
A
A
G
T
T
T
G
A
G
G
T
G
9800 |
var(9779):[A:0.21]
C
C
C
A
T
GGTGT GAGGTCTGGA GCTCAG
C
GCA GAGATGATGC AATG
T
GGTGG
9850 |
var(9827):[T:0.06]
|
var(9845):[C:0.40]
GTCCATGC
A
A
C
A
T
G
G
T
G
C
C
A
G
G
A
C
G
C
A
G
A
G
C
T
T
G
G
G
G
T
G
A
A
C
T
C
A
G
C
T
T
T
9900 |
REPEAT
C
A
C
C
C
C
T
T
A
C
C
G
G
T
T
C
T
C
G
T
G
G
G
A
T
C
T
T
G
G
G
A
A
G
C
C
A
C
T
T
T
C
T
T
C
T
A
T
G
A
9950
G
C
T
T
T
G
T
C
G
T
T
C
T
T
G
T
C
T
G
T
A
A
A
A
T
G
G
G
C
A
C
A
T
A
A
C
C
C
T
G
T
C
C
C
T
G
T
C
C
T
10000 |
var(9953):[C:0.06]
|
var(9967):[T:0.05]
T
C
T
C
A
C
A
G
G
T
T
G
C
T
G
T
G
A
G
A
C
T
C
C
A
A
T
G
A
G
T
T
G
A
A
G
G
A
T
G
T
G
C
A
G
A
T
G
C
T
10050
T
TTGGAAGTG AAAAGTTGGG GGGCTACTGT GTGACTTTGC ATACACCCAA
10100
ACTGTGTGAC CTTGCATATG TCTGAGTTGC TGCCATTGCA A
C
AGATCAGA
10150 |
var(10142):[A:0.02]
GCTGGTGGGC TGGGTGTGGA GAAAGGGTTT GTGTGGGGGA CATCCTCTGG
10200
CAAGGGTGGC AGCAGCAGAA GTGAGGGGCC TGGTCGGTCA TGTGTGCTGA
10250
CCCGGCCTGG GCAGCCTGTG GCCAGGGAGA GGACAGCTCC TCTGTAGGAA
10300
GAGC
C
TGTTC CTTTCCAACC AGGTGAGACC TCTTCAGTGG AGCCCTGGAG
10350 |
var(10305):[G:0.12]
CCCCCTGTAC TCCACATCAG TGCCTCAGGG ACCTCCCGGA GCAGGCTAAT
10400
ATCAGAGACC AAGAGGGACA CTGGCAGAGG ATCACAGAGA CCCCAGTCCA
10450
GGCAGGGACT GAGAAGATCT TGCCCCCTAA G
T
T
A
G
T
T
T
C
C
T
A
G
C
A
C
T
G
C
T
10500 |
REPEAT
G
T
G
A
C
A
A
A
A
T
A
C
C
A
C
C
C
C
C
T
C
G
G
T
T
G
G
A
A
C
A
A
G
T
T
G
A
T
T
C
T
C
T
G
C
A
G
T
C
C
10550 |
var(10509):[T:0.29]
T
G
G
A
G
G
C
C
A
G
A
A
G
C
C
T
G
A
A
T
C
A
G
T
G
T
C
G
G
C
A
G
G
A
C
C
A
C
T
T
T
C
T
C
C
C
G
G
G
G
10600
G
G
C
T
C
C
A
G
G
G
A
G
A
A
G
C
T
T
C
T
C
T
T
G
C
C
T
C
T
T
C
C
G
T
G
T
C
C
C
A
A
C
A
G
C
G
G
C
A
G
10650
C
A
C
A
C
C
A
A
T
C
C
C
A
G
C
C
T
C
T
G
T
C
T
T
C
A
C
A
C
A
G
C
C
T
T
C
T
C
T
G
T
G
T
C
T
C
T
C
T
C
10700
C
T
C
T
T
C
A
T
T
G
T
C
T
C
A
T
A
A
G
G
A
C
A
C
T
T
G
T
C
A
T
T
G
G
A
T
T
T
A
G
G
G
C
C
C
A
C
T
G
G
10750
A
T
C
C
T
C
C
A
G
G
A
T
G
A
T
C
T
C
A
T
G
T
G
G
G
G
A
A
C
C
T
T
A
A
C
C
A
C
A
T
C
T
G
C
A
A
G
G
A
C
10800
C
C
T
T
T
T
T
C
C
A
A
A
T
A
A
G
G
T
C
A
C
A
G
C
C
A
C
A
G
T
T
T
G
T
G
G
G
G
G
T
T
A
G
G
A
T
G
T
G
A
10850 |
var(10802):[T:0.01]
|
var(10830):[G:0.28]
G
T
G
T
A
T
C
T
C
T
T
T
G
G
C
A
G
C
C
A
C
T
G
T
T
C
CCTC CTCTCCCTTG GGCCAGAAGC
10900 |
var(10857):[G:0.11]
AGACGTGGGG CCCTTTCTTC CCCATAGGAT GCCCATGGAT T
G
CCCCCCTT
10950 |
var(10942):[T:0.10]
CCCGCTTCCC CCGAG
C
GTCT GTGGGAGGTG GCAGGAATGG CAGGCAGG
T
G
11000 |
var(10966):[T:0.26]
|
var(10999):[G:0.40]
TGTGGAACCC CTTCTGGAGT CATATCAAGG GCTTGGCTGG AGGAAGTCCT
11050
CCTGGAGCTG TTGGGCTGGC ATGGGGCAGG CTGGCTGGGC CCAGCAGCAG
11100
CTTCTTCATT CATGGGGA
G
G
C
C
A
C
A
A
G
C
A
T
G
G
G
C
C
C
T
A
G
A
G
C
T
G
G
C
T
G
C
C
11150 |
REPEAT
G
C
C
C
T
C
A
A
A
C
C
C
A
G
A
C
C
C
T
G
C
A
C
T
C
T
T
A
A
C
T
G
T
G
T
G
A
C
C
T
T
G
C
A
T
A
C
G
T
C
11200 |
var(11198):[T:0.01]
A
C
T
C
A
C
C
C
T
C
T
C
T
G
A
T
C
T
T
C
A
G
G
T
T
C
C
T
C
T
G
C
A
A
A
A
G
G
G
A
G
G
T
A
A
T
G
A
T
A
11250
A
C
C
C
T
C
A
C
T
C
T
G
G
G
G
G
G
C
T
G
T
T
T
G
G
A
G
G
G
T
T
A
A
A
T
C
A
G
T
T
A
T
T
G
C
T
G
T
A
G
11300
CATGCATTTC TCTG
T
CAGGT ATTGAGTGAG GTGCTGTGAT TTTAGCCCTG
11350 |
var(11315):[G:0.05]
CATTTTTCTT TTCTTAC
C
A
T
T
C
A
A
T
A
A
T
A
A
C
G
T
T
T
T
G
A
G
C
A
C
C
C
A
C
T
G
T
G
11400 |
REPEAT
|
var(11395):[T:0.13]
C
G
C
C
A
G
G
C
A
C
C
A
T
A
T
T
A
G
G
T
G
C
T
G
G
G
G
A
T
A
C
A
A
A
T
G
T
G
A
A
T
G
A
A
A
T
G
A
A
T
11450
G
T
G
G
T
C
T
C
T
T
C
C
C
C
C
A
A
C
A
G
T
G
T
A
T
C
C
A
G
A
A
G
A
T
T
A
A
T
C
C
A
T
T
C
C
T
T
A
A
A
11500 |
var(11465):[T:0.01]
C
A
A
A
T
G
C
T
A
C
T
T
G
A
C
A
C
A
G
A
T
T
A
G
T
T
C
T
G
G
A
T
A
G
G
C
T
G
A
G
A
G
C
T
C
T
G
A
A
G
11550
G
A
G
T
G
C
A
G
G
C
A
G
C
T
G
C
G
A
G
C
C
T
G
T
G
T
A
T
C
C
A
G
C
A
G
A
A
G
G
A
T
C
A
G
G
A
A
A
G
G
11600
A
T
T
C
C
T
G
G
A
G
G
A
A
G
C
G
C
T
G
T
T
C
T
A
G
C
C
A
A
G
A
C
C
T
A
C
G
G
G
G
G
C
A
T
T
A
T
T
A
A
11650
C
C
A
G
G
C
A
A
A
G
G
G
G
A
C
G
G
T
G
T
C
C
A
A
G
C
A
G
T
G
G
A
A
T
G
A
A
C
G
T
G
G
A
T
T
G
A
A
G
C
11700
T
G
T
G
A
G
G
C
A
G
G
A
G
G
G
A
G
T
G
T
G
G
C
C
T
G
T
G
C
A
G
A
A
G
G
G
A
C
C
G
A
G
G
C
T
G
G
T
G
A
11750 |
var(11740):[A:0.07]
G
A
C
C
A
G
C
A
G
G
G
CCTGGGTGG CCTCCAGGTC AGATGTGAAA GGAAGAACTT
11800
GGCCACAGTC TGAGCTTCTC AGGCGTATGG
C
AGGGCTGCC TGGTGAGAGG
11850 |
var(11831):[A:0.01]
GAATGAGCTC CCTGCTCTGG AGGTATGCAA GCAGGACTGG GCTCTCACCT
11900
GCCAGAGGCC ACAGAGCTTT CCAGAGGCTG GAAGAGGCCA CTCCAAGGCC
11950
TCTTTGCCCC TGAGAGTGGT GGCTCTTCTT GAGGCCACCT TGCCACGCTG
12000
TCACAGGGAA CTAGCAGCCC CTGCCTCACC CGGGGGTTTG GAAGATAGAG
12050
GGAGGCCTAG GAAGGGCCCT GTGTCTCATC CGAGCTGGGC CCCTTTCCAG
12100
CCTCTCACTG GAAGGAAGCC CAAGGATGTT CCTGTGGGGG CTTTTACCAG
12150
GCCCACCTGC CCTCTGCTGG CCATGCTTGC AGCCTCCTGA CCCTGTCCCA
12200
GCAGGACAGT GGGCTGGTGT GAGCGGGCAG GAACCGCCTG CACTTAGAAG
12250
GTGTGGGGCT GCCT
C
CCCGA GCTTCCATCT GCCGCTGGGG CCACACCCCA
12300 |
var(12265):[T:0.45]
GGCCCAGGGA TGGGACCCCA
T
AGTGGTCAC ATCATCTTGC AGCAGAACCC
12350 |
var(12321):[C:0.39]
AGGTACAGCT CCTGGAGCAG ATGGT
G
GTCC CAAGCA
C
GGG TGGGACCAGA
12400 |
var(12376):[A:0.01]
|
var(12387):[T:0.01]
A
A
GGACTCTC ACCTGGGCT
A
ACTCAGCTGC AGCCTCAGTT CCCTCCTCAC
12450 |
var(12402):[G:0.10]
|
var(12420):[:0.01]
ACA
C
G
A
CGAG GAACATGGAC TGGAAGCCTG CCCAGCAGGC CTTCTGCTCG
12500 |
var(12454):[:0.61]
ATGTGCGT
T
G TGTGGCTTAC
G
TCCAGGGAG GGAAGCAGCC TCTGTGCTGT
12550 |
var(12509):[C:0.03]
|
var(12521):[A:0.09]
CTTCTAGATA AGCCTGTATT CCCCGGGCTG TCTGCCAATG TATCCAGTTG
12600
TCCCGTCAGC CTGGAAGCTC TGAGGGAAAA CCTTGGGCTG CTTCCTGAGC
12650
ACCTGTATCC CCTGCAGCCA GCCCGGGGCC TCTGCTAGGA GCAGACTGAG
12700
CATGGCTTAT GGGCCTGGCA CCATCTGGCC TCTGCCCACC TTGCTGGCCT
12750
TGTCTTGTGT CTGCCCCTTC GACATTCCAT AGCCCAG
C
TC AATATCTAGT
12800 |
var(12788):[A:0.43]
GGTTCCTCTA GG
G
TGGCGAG CACTGTTTGG TCTCCAGATG TCTTCAGGTC
12850 |
var(12813):[T:0.03]
GGAGCTCACA GCGCTCTCAG CCACCCCTTC CCAGTGTAGC ACCGGGCACA
12900
TGGTAGATGC CTATTGATGA GTGAAAGCTC CTAACACACT CAGAGAGCAA
12950
GGACTCCGCC TCATCCCACA G
T
CTGGGAGG AGAGGCAGAC TGCCAAGGAC
13000 |
var(12972):[C:0.49]
CTGCTCAGCA TGCTACAGAA GAAACCAAAG TGCCCACGGG ACTGATCAGT
13050
GGAGCTTCCT GCCGAGACTG GAGGCCTTAG GGCAGGGTAG ACAGTGTGTG
13100
TGCAGGCTGG GGACTCAC
A
G TTCGGACTGT GCCCAGACCT ACTAGCATAG
13150 |
var(13119):[G:0.01]
TGGGTGGGTG GGAGGATGCG GGACTGGGGG CCGACCTTGC CTGAAATTCA
13200
TGTGGGATCT CAGAGCAGCC ACTGAATTGC TC
T
G
T
A
G
G
G
G
G
C
T
A
A
A
T
A
G
T
13250 |
REPEAT
G
G
C
C
C
C
C
A
C
A
G
A
T
A
C
A
C
A
C
A
C
C
C
A
G
A
C
A
G
A
G
C
C
T
G
T
G
A
G
C
C
G
G
A
C
C
T
T
A
T
13300 |
var(13292):[A:0.46]
T
T
G
G
A
G
A
A
A
A
G
G
T
C
T
T
T
G
T
A
G
A
T
G
T
A
A
T
T
A
A
G
C
A
T
C
T
C
A
A
G
A
T
G
G
C
A
T
C
A
13350
T
C
T
G
G
A
T
T
A
T
G
C
G
G
T
G
G
G
C
T
G
T
A
A
G
T
C
C
T
G
T
G
A
T
G
T
G
T
C
T
T
T
A
T
G
A
G
A
G
A
13400
A
A
G
G
C
A
G
A
G
G
G
A
G
A
T
T
T
G
A
C
A
C
A
C
A
C
A
G
G
A
G
G
G
G
C
C
A
C
G
T
G
G
A
G
A
C
A
G
A
G
13450 |
var(13422):[:0.03]
G
T
G
G
A
G
A
T
T
G
G
A
G
A
A
A
T
G
T
G
G
C
C
A
C
A
A
G
C
C
A
G
G
G
A
A
C
A
C
C
A
G
C
A
G
C
C
A
C
C
13500 |
var(13458):[C:0.03]
|
var(13497):[T:0.09]
A
G
A
A
G
C
C
G
G
A
A
G
A
C
G
T
G
A
G
G
C
A
G
G
G
T
T
C
T
T
C
C
C
A
G
A
G
C
C
T
T
C
GCTGCTGA
13550
GTCTGGGAAT TTGT
T
ACCGA AGCCATAAGA AGTGGGTACA CGCCCTGAGC
13600 |
var(13565):[G:0.01]
CTCCCACACT TGCTCACC
T
G TCCTGAGATG AGAATCTCTA CTCTGCAGCA
13650 |
var(13619):[C:0.01]
TATTTGGAGG ATCACTGCGG GGGCCACAGA GGTGCTGTTC AGATGGCACT
13700
TCAGAAGACT CAGGAGACCC TGGGGCAGGA GCAGTTTGAC TGACAGCCCA
13750
GAGGGCTGCC CTCTGATTCC ACCTGAGGCC CTGCTTTTCC TGGCT
G
C
A
G
G
13800 |
REPEAT
G
G
T
T
C
C
A
G
G
G
C
C
A
G
G
C
C
A
T
T
T
C
C
G
C
T
G
G
C
G
C
A
G
G
A
C
T
C
T
G
C
T
A
G
C
A
G
C
A
A
13850
C
C
T
G
C
C
T
G
A
A
G
T
C
T
T
C
C
T
T
T
G
G
C
C
T
G
G
C
T
G
A
G
A
G
T
T
T
C
T
G
A
G
A
C
C
T
G
C
G
C
13900 |
var(13869):[C:0.01]
T
G
G
A
G
C
G
G
A
G
G
T
G
C
T
T
C
C
T
T
C
C
T
T
G
C
T
T
C
C
T
T
T
C
T
T
C
C
T
C
T
C
T
C
C
C
T
T
C
T
13950
C
C
A
T
C
C
A
G
C
A
G
G
C
T
G
G
A
C
C
T
G
C
C
T
G
G
C
A
T
C
T
G
T
G
A
G
C
T
C
T
C
C
C
T
A
C
T
T
T
C
14000
T
C
C
T
A
T
A
C
C
C
T
A
A
C
C
T
T
T
G
T
C
C
T
G
C
A
T
G
G
G
C
G
A
C
T
C
C
C
C
C
A
G
T
G
A
G
T
C
T
C
14050
T
T
G
C
A
G
C
T
T
T
T
A
C
C
C
C
A
G
T
G
C
C
T
G
C
T
T
C
T
T
G
G
A
G
A
A
T
C
C
A
A
A
C
T
G
A
T
C
C
A
14100 |
var(14085):[G:0.12]
GTTAGGGATG ATAAAGTGTA GGGTAGG
C
GC TCGGTGACTG TTTTCTCTGA
14150 |
var(14128):[T:0.31]
GGTTGTGACT CGTGTGAGGC AGAAGCAGTC CCCGTGAGCC CTCCTGGTAT
14200
CTTGTGGAGT GGAGAACGCT TGGACCTGGA GCCAGGAGGC CCAGAC
A
TAC
14250 |
var(14247):[C:0.01]
ATCCTGTCCG AGCTGCAGCT TCCTGTCTCT AAAATGAGC
C
GGCCAGC
G
CA
14300 |
var(14290):[T:0.02]
|
var(14298):[A:0.01]
GGTGGCCAGA CATCACTGTT ATTCTCCTTT GAGTCTTTAA ATCTTGTTGT
14350
CTTTCTTGCA GACTCGGTGA GCTGTGAAAG GCTATAATAG GGGCTTTATT
14400
TTACACTTTG ATACTATTTT TTGAACATTC ATATTATTGT TAGATA
T
TGA
14450 |
var(14447):[C:0.01]
TATTCATATG AA
G
G
A
G
C
A
G
G
A
T
G
A
C
T
T
G
G
G
T
C
C
T
T
C
T
T
G
G
C
A
G
T
A
G
C
A
T
T
14500 |
REPEAT
G
C
C
A
G
C
T
G
A
T
G
G
C
C
T
T
G
G
A
C
A
G
T
T
A
C
C
T
G
C
C
C
T
C
T
C
T
A
G
G
C
C
T
C
C
C
T
T
T
C
14550
C
T
T
G
T
C
T
A
T
G
A
A
A
T
A
C
A
T
T
A
T
A
G
A
A
T
A
G
G
A
T
G
T
A
G
T
G
T
G
T
G
A
G
G
A
T
T
T
T
T
14600
T
G
G
A
G
G
T
T
A
A
A
C
G
A
G
T
G
A
A
T
A
T
A
T
T
T
A
A
G
G
C
G
C
T
T
T
C
A
C
C
A
G
T
G
C
C
T
G
G
G
14650 |
var(14645):[G:0.37]
ATGTGCTCTG TAGTTT
C
TGT GTGTTAACTA TAAGGTTGAC TTTATGCTCA
14700 |
var(14667):[G:0.28]
TTCCCTCCTC TCCCACAAAT GTC
G
CCTTGG AAAG
A
C
G
G
A
G
G
C
A
G
C
C
T
G
G
T
14750 |
var(14724):[A:0.09]
| Exon 4
D G G S L V 181
G
G
A
G
G
T
G
T
A
T
C
T
C
C
T
A
G
A
C
A
C
C
A
G
C
A
T
A
C
A
G
A
G
T
G
A
C
C
A
C
C
G
G
G
A
A
A
T
C
G
14800
E V Y L L D T S I Q S D H R E I 197
A
G
G
G
C
A
G
G
G
T
C
A
T
G
G
T
C
A
C
C
G
A
C
T
T
C
G
A
G
A
A
T
G
T
G
C
C
C
G
A
G
G
A
G
G
A
C
G
G
G
14850
E G R V M V T D F E N V P E E D G 214
A
C
C
C
G
C
T
T
C
C
A
C
A
G
A
C
A
G
GT AAGCAC
G
GC
C
GTCTGATGGG AGGGCTGCCT
14900 |
var(14877):[A:0.05]
|
var(14880):[T:0.01]
T R F H R Q 220
CTGCCCATAT CCCCATCCTG GAGGTGGGTG GGGACTGCCA CCC
C
AGAGC
A
14950 |
var(14944):[A:0.15]
|
var(14950):[G:0.49]
TTGCAGCTGT ACTCCTGGG
T
TGCA
C
CCCCC CCAAGCTGTC ACTGTCCCCT
15000 |
var(14970):[C:0.01]
|
var(14975):[:0.43]
CCCTGCCATC AGTTGTGGGA AGGGCGTTCA TCCATCCAGC CACCTGCTGA
15050
TTTGTTATAG GGTGGAGGGG GGGTCTTTCT CATGTGGTCC TTGTGTTCGT
15100
T
GAGCAG
G
C
C
A
G
C
A
A
G
T
G
T
G
A
C
A
G
T
C
A
T
G
G
C
A
C
C
C
A
C
C
T
G
G
C
A
G
G
G
G
T
G
G
15150 |
var(15101):[C:0.40]
| Exon 5
A S K C D S H G T H L A G V 234
T
C
A
G
C
G
G
C
C
G
G
G
A
T
G
C
C
G
G
C
G
T
G
G
C
C
A
A
G
G
G
T
G
C
C
A
G
C
A
T
G
C
G
C
A
G
C
C
T
G
15200 |
var(15170):[T:0.02]
V S G R D A G V A K G A S M R S L 251
C
G
C
G
T
G
C
T
C
A
A
C
T
G
C
C
A
A
G
G
G
A
A
G
G
G
C
A
C
G
G
T
T
A
G
C
G
G
C
A
C
C
C
T
C
A
T
A
G
G
15250 |
var(15203):[T:0.01]
R V L N C Q G K G T V S G T L I 267
T
G
AGTGATGG CCCCAGACGC TGGTCTCTCT CCATCTGGAC CTGGCCTGGG
15300 |
var(15252):[A:0.48]
AGGTGGCTTG GG
A
TGGGCCC AGGGAGAGCT AATGTCTCCT AACCAAGAAT
15350 |
var(15313):[C:0.42]
GCTGTGGCAG CCTCTGCCGC AGAGCCAGAG AACCAGAGTG CCAAGGCTGG
15400
CAGGGT
T
CCC AGTGGCCACG AGTGCAGATG AAGAAACCCA GGCCCCAAGA
15450 |
var(15407):[C:0.05]
GGGTCATGCA GGTAGC
C
CAG GGAGTTCAGC CTTGACCCTG GGTCAATGAC
15500 |
var(15467):[T:0.45]
CTTTCCACAG TTCCACACTG CTCCCCTTTT AAAATC
C
GGT GATGTCTTTA
15550 |
var(15537):[T:0.34]
TGTCTTTTGT TATGTTATCT TCAATGTGGA GGGACTCGAG GTGATCTAAG
15600
CAAACTTTT
T
C
T
A
T
C
T
T
C
T
G
C
T
T
G
C
A
T
A
C
C
T
C
T
G
A
G
A
C
C
A
G
G
G
G
A
C
T
C
A
C
15650 |
REPEAT
T
C
A
C
T
T
G
C
A
T
G
A
C
TGGGCCC TGCAGGTCAC ACTGGCCAGG CAGATGTGGT
15700
GGAGGAACTG GCAGAGGACT TTTTCTAGAC TGTGACTACA TTTA
G
TCCAC
15750 |
var(15745):[A:0.04]
CCAGCGGCCC CCCTATGAAG TCCAGTTGAG AACTAGGACT CTGGGGGC
C
T
15800 |
var(15799):[T:0.01]
|
var(15800):[G:0.44]
GTGGACAGAG AAGAGGGAGG GTTCTCTCCC TTACTGACTT CCTTCTGTGG
15850
CC
A
GACATTG AGCAAGGCCT CTGTACAGCA TGTCCTGGGG CTGGCCTTGC
15900 |
var(15853):[T:0.11]
CGTAGCTGCT AA
A
T
A
G
T
T
G
A
C
G
A
A
A
C
C
A
G
T
C
C
A
G
A
G
A
G
G
G
G
A
G
G
T
G
A
C
T
G
15950 |
REPEAT
C
C
A
G
G
G
T
C
A
C
A
C
A
G
C
T
C
A
A
G
C
T
G
G
G
G
A
A
C
T
C
G
C
T
G
G
G
A
AA ACTGTCAGCT
16000 |
var(15959):[G:0.49]
CTGGGCAGCA GCTTG
A
CTTC CA
T
TGTAAGC CCCAGCCC
C
C AGGGTCAAAC
16050 |
var(16016):[T:0.11]
|
var(16023):[C:0.45]
|
var(16039):[A:0.04]
ACTGGCTCTG GTGCTGGCAG AGGCAGCCCA CTAGCCTGTT TCAAAGGCTG
16100
AGAAGGCCCA GGAGTCTGCC CTGTGCTCCA CCAGTTCTGC CCTGAGACTT
16150
TCCTACAGAG TACAGGTTTT GATGTTCAGT TTTAAAGGCA AGAATCAATA
16200
ACCTTCTGCC CCATCAGGTG ACCCCTTGTG CCTGTCCCAC CCCTTTATTG
16250
ACTGACCTCG GCTCAGTCAG GTCAGTTCCT GAAGGTCAGT GTGTGGAGGG
16300
GAGGCTGTTC TTTCCCAGAA AGGCCTTCCC CAGGCCTGGT GCT
C
TGGCCT
16350 |
var(16344):[G:0.01]
CTGGAGGACT TCCTGGAGAA GTCCCTTCTT TGGGGTCCCA GT
C
AGTGTAT
16400 |
var(16393):[G:0.01]
GGGAAGCCCT TATTGCATGA CCTGGCACGG GGCAGGGGCT CAACAGTCAC
16450
TATTGCCTTC CTTGCCACTG CCATTTCCTC CTCTGTAAGC AGGTG
A
T
T
G
T
16500 |
REPEAT
G
T
G
T
C
C
A
G
T
C
T
G
A
G
C
A
C
A
G
A
G
A
T
A
A
G
C
A
C
A
C
A
G
C
A
G
G
T
G
C
T
T
A
A
T
A
A
CTA
16550
GCAGCTGTA
G
G
C
T
G
G
G
C
G
C
G
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
16600 |
REPEAT
G
G
A
G
G
C
C
G
A
G
G
T
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
16650 |
var(16648):[T:0.04]
G
T
T
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
16700
G
C
A
T
G
G
T
G
G
T
G
G
G
T
G
T
C
T
G
T
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
A
A
G
G
C
A
G
G
A
16750
G
A
A
T
C
G
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
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
T
G
C
C
16800 |
var(16756):[A:0.07]
A
C
T
G
C
A
A
T
C
C
A
G
C
C
T
G
A
G
T
G
A
T
A
G
A
G
C
G
A
G
A
T
T
C
C
A
T
C
T
C
A
A
A
A
A
T
A
A
A
T
16850 |
var(16801):[C:0.10]
|
var(16813):[A:0.01]
A
A
G
T
A
A
A
T
A
A
CTAGCAGCTG TAAATGTGGC TGTTGTTCTT CACCTCCACA
16900
CTCAGTGCCA CTCCACTCCC TCCCTCCGTG GTGTGAGGGG CCTCACTAGC
16950
TGTCTCCTAG GAGGAGCATG GCTGTGAGAT TCCAGCTCCA TCCTTG
G
CCA
17000 |
var(16997):[A:0.44]
CGGCTCCTGG AGACATCTTA GAGGCCAGGA TCCAGAAGGC TCCCACACC
C
17050 |
var(17050):[T:0.30]
CATTTGACAG GGGAGAAGCT GTCAGTTCCA GGTCCCCTTG CACATCAGGG
17100
CCAGAGCTGC GTTAGGCCTC CAGTCTCCAG GC
C
ACTGGGC CAGAGCTCAC
17150 |
var(17133):[T:0.01]
AGGCTGGCAG AGGGTTAGAA CTGTTACTGG T
G
G
C
T
G
G
G
T
G
C
A
G
T
G
G
C
T
C
A
17200 |
REPEAT
|
var(17193):[C:0.44]
C
G
C
C
T
G
T
A
A
T
C
T
T
A
G
C
A
C
T
T
T
G
G
G
A
G
G
G
C
A
A
G
G
C
G
G
G
A
G
G
A
T
C
A
T
G
A
G
G
T
17250 |
var(17230):[G:0.12]
C
A
G
G
A
C
A
T
C
G
A
G
A
C
C
A
T
C
C
T
T
G
C
T
A
A
C
A
C
G
G
T
G
A
A
G
C
C
C
C
G
T
C
T
C
T
A
C
T
A
17300
A
A
A
C
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
17350 |
var(17319):[T:0.01]
|
var(17329):[A:0.01]
|
var(17332):[G:0.03]
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
C
T
17400
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
T
A
G
A
G
C
G
17450 |
var(17412):[A:0.03]
A
G
A
C
T
C
C
G
T
C
T
G
G
A
A
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
GCTGTTA CTGTTGACAG
17500
TAGCATGAGG TAGACCATGG CCTGCACCAA AATGGGGGAG TGGAGTGCCA
17550
CTGAGGCCAG AAGGAACCAC ACCCTCAAGG GTGGGGAGTT ATGGTATGGG
17600
GGGTCCTAGG CATGGAGTCT TTTAATTCTT TAGACAATCC TGGGAGCA
G
C
17650 |
var(17649):[A:0.26]
TGTCCCTGTT TCACAGAGGG CGGGGCCACA CAGCTGGTGA GTGGGCAGCC
17700
AAGACTCTGT TCAAGTTTGT GTGGGTCCAA CACTTGCGGC CACGGTGGAG
17750
GGGCATCTGA GCCAGGCCTC AGAGAGTGGC
G
GGGGGAAGT TGGGTGGGGA
17800 |
var(17781):[:0.53]
AGTGTGCCCT TCTCATTCCT CTGAGG
C
T
C
A
T
C
C
T
C
T
T
G
G
T
G
C
C
T
C
T
C
T
T
T
17850 |
REPEAT
C
A
T
G
G
A
A
A
G
G
G
A
T
A
A
T
A
A
G
G
T
T
A
T
T
G
T
G
A
G
G
A
T
C
C
C
C
T
G
A
G
T
T
C
G
T
A
T
A
T
17900 |
var(17895):[A:0.47]
T
C
A
G
A
C
G
C
T
T
A
G
A
C
A
G
A
G
C
C
A
G
G
C
A
C
A
G
A
G
A
A
G
G
G
C
C
C
GG GGTTGGCTAG
17950
TTTGATTGCT GGTGTAATTG CTAATATCTT
C
CAGTT
T
G
T
A
T
T
G
G
T
C
A
A
G
G
18000 |
var(17981):[T:0.11]
|
REPEAT
T
T
C
T
G
C
A
G
A
G
A
A
G
C
A
G
A
A
C
C
A
G
T
A
G
G
A
T
G
T
A
T
A
T
A
T
T
A
A
G
A
G
T
T
T
C
A
A
G
C
18050 |
var(18028):[G:0.42]
T
C
A
T
G
T
G
A
C
C
G
T
G
C
G
G
G
C
T
G
G
C
A
A
G
T
C
T
G
A
A
A
T
C
C
G
C
A
G
G
G
C
A
G
G
C
C
A
G
G
18100 |
var(18099):[T:0.47]
C
A
G
G
C
T
G
G
C
A
A
T
T
C
C
T
G
C
A
G
A
A
T
T
T
G
A
T
G
T
T
G
C
A
A
T
A
C
T
G
A
G
T
C
C
T
A
A
G
G
18150 |
var(18138):[T:0.03]
C
A
G
T
C
C
T
G
G
G
G
C
A
G
A
A
T
T
C
C
T
T
C
T
T
C
C
C
T
G
G
G
A
G
G
C
C
T
C
A
G
T
C
T
G
T
T
C
T
C
18200
T
T
A
A
G
G
C
C
T
T
C
A
A
C
T
G
A
T
T
A
A
A
T
G
A
G
G
C
C
T
G
C
C
C
A
A
G
T
T
A
T
A
G
A
G
A
G
T
A
A
18250
C
C
T
G
C
C
T
T
A
C
T
C
C
G
T
C
T
T
C
T
G
A
T
T
T
A
A
A
T
G
T
T
A
G
T
C
A
C
A
T
C
T
A
A
A
A
A
A
T
A
18300
T
T
T
T
C
G
C
A
G
C
A
G
C
A
T
T
T
C
C
A
C
T
G
G
C
T
T
T
T
G
A
C
C
A
A
A
C
A
T
C
A
G
G
C
C
A
C
A
A
A
18350
G
T
T
G
A
T
C
C
C
C
A
A
A
A
T
T
A
A
C
C
A
T
C
A
C
TCTGT GCCTGTAAGG GAGGGGCTGG
18400
GAAAGGGGAG CAGGTCTCCC CAAGGGGTGA CCTTGGCTTT GTTCCTCCCA
18450
G
G
C
C
T
G
G
A
G
T
T
T
A
T
T
C
G
G
A
A
A
A
G
C
C
A
G
C
T
G
G
T
C
C
A
G
C
C
T
G
T
G
G
G
G
C
C
A
C
T
18500 | Exon 6
G L E F I R K S Q L V Q P V G P L 284
G
G
T
G
G
T
G
C
T
G
C
T
G
C
C
C
C
T
G
G
C
G
G
G
T
G
G
G
T
A
C
A
G
C
C
G
C
G
T
C
C
T
C
A
A
C
G
C
C
G
18550
V V L L P L A G G Y S R V L N A 300
C
C
T
G
C
C
A
G
C
G
C
C
T
G
G
C
G
A
G
G
G
C
T
G
G
G
G
T
C
G
T
G
C
T
G
G
T
C
A
C
C
G
C
T
G
C
C
G
G
C
18600
A C Q R L A R A G V V L V T A A G 317
A
A
C
T
T
C
C
G
G
G
A
C
G
A
T
G
C
C
T
G
C
C
T
C
T
A
C
T
C
C
C
C
A
G
C
C
T
C
A
G
C
T
C
C
C
G
A
G
GT
18650
N F R D D A C L Y S P A S A P E 333
AGGTGCTGGG GCTGCTGCCC CAAG
G
CGCGG G
T
A
G
G
G
G
G
TA GGGGGCGG
A
G
18700 |
var(18675):[A:0.01]
|
var(18682):[:0.99]
|
var(18699):[G:0.11]
GGCGGAGGGA GGGCGGGCGG GCAGGCGGGC TTCTTGTGGC ACGTGGGCTT
18750
CTTGTGGCAC GTTCCTGGAG GCCGAACCCT TCTGGCTTTG GAAGGAGTCG
18800
TCAGAGACCC CCGCCATGCG GGAGGCTGGG GAGGAAGGGG CTCGAAACCT
18850
CCATCATCGC AGAGTCTG
A
A TAGCAGTGGC CCCGCCATGC GCCCACGTAG
18900 |
var(18869):[C:0.07]
C
G
GCG
C
CTAC GTAGCCACGC CCCCAC
A
CCC CGTCCTGGCC ACTCTCCCTC
18950 |
var(18902):[A:0.02]
|
var(18906):[G:0.02]
|
var(18927):[G:0.45]
CTGAAGGTCT TCTGGTACCC GCCCCCTCCC CATCTCCATC CCCAGGCCCT
19000
GCGTCCTCTG CCCAATACTC TTTGGG
C
CTC CCTGTTGTCC AGCTCTCTCC
19050 |
var(19027):[T:0.05]
GCGGCTCCAT GACTGACAAC TTGAGCAAGG CTAATGTGAA TGGGAGCGGT
19100
TGAGGGCTCA GACCTCTCAC CCGAGGAACA TCCACAGAGT GTGCCGCATG
19150
CCCGGTGCAG TGTGGCTGCG GGGACACAGA CACGGAGCCT CGGCCCTGAG
19200
GAGCTGGGGG
G
CAGTGACCG TCCCTCCTCT GACCCACCAC TCCTCCAGTG
19250 |
var(19211):[A:0.25]
TCAGGACACT GCGGGTATCT AGGGGAAGGA ATCTTGTTCC ACTTCAAGTC
19300
TGGAACTTCA AGTCTGTGTG TGTGCGTGCG CGCGCGCGCG TTG
G
GGGTGG
19350 |
var(19344):[T:0.25]
GGGTTGCAGA GCAGATGCGT ACCTGACAGC GGTAACCTAG GTCCCCC
C
T
G
19400 |
var(19398):[T:0.04]
|
var(19399):[:0.89]
GCCTATC
A
G
A
G
G
C
T
T
C
C
C
T
G
G
C
G
G
C
C
G
A
A
T
T
T
A
A
A
G
G
C
A
T
C
A
A
G
C
A
A
A
C
A
19450 |
REPEAT
|
var(19409):[:0.96]
A
A
G
C
C
C
A
A
C
A
C
A
T
C
T
C
T
G
C
C
T
T
G
T
C
C
T
C
T
C
A
G
T
T
T
C
C
C
C
C
C
G
T
G
G
C
A
C
T
T
19500 |
var(19461):[T:0.07]
A
G
A
A
C
C
A
C
T
T
G
A
T
A
C
A
C
C
G
A
A
T
A
G
T
T
T
C
C
G
G
T
C
T
A
T
C
T
C
C
C
C
C
A
C
T
A
G
G
A
19550 |
var(19530):[:0.17]
T
G
T
A
A
A
C
T
C
C
A
C
A
G
G
G
G
C
A
T
T
G
G
G
A
A
T
G
C
T
G
C
C
T
G
G
C
TAT GGTAGGGACA
19600 |
var(19587):[T:0.05]
G
A
G
G
G
G
A
G
C
A
C
C
A
G
G
G
C
G
G
G
G
C
A
G
G
G
G
T
G
C
C
A
G
A
G
T
T
C
T
G
C
C
T
G
G
G
C
A
G
T
19650 |
REPEAT
C
A
G
A
T
T
T
T
C
C
T
T
A
G
G
A
G
G
G
G
A
C
A
T
T
T
G
A
G
T
G
G
G
A
C
C
C
A
A
A
C
A
G
G
T
G
T
A
T
A
19700 |
var(19659):[T:0.02]
G
C
A
G
T
T
G
T
C
C
A
G
CCCAGCTG GCAAGGCCTG AGTCTGCCTC TGCAACCCCT
19750
CTCTTGGGCT CCTTTCTCTG
C
CACCCACCT CCTCACCTTT CCAG
G
T
C
A
T
C
19800 |
var(19771):[:0.01]
| Exon 7
V I 335
A
C
A
G
T
T
G
G
G
G
C
C
A
C
C
A
A
T
G
C
C
C
A
G
G
A
C
C
A
G
C
C
G
G
T
G
A
C
C
C
T
G
G
G
G
A
C
T
T
T
19850 |
var(19824):[A:0.02]
T V G A T N A Q D Q P V T L G T L 352
G
G
G
G
A
C
C
A
A
C
T
T
T
G
G
C
C
G
C
T
G
T
G
T
G
G
A
C
C
T
C
T
T
T
G
C
C
C
C
A
G
G
G
G
A
G
G
A
C
A
19900
G T N F G R C V D L F A P G E D 368
T
C
A
T
T
G
G
T
G
C
C
T
C
C
A
G
C
G
A
C
T
G
C
A
G
C
A
C
C
T
G
C
T
T
T
G
T
G
T
C
A
C
A
G
A
G
T
G
G
G
19950
I I G A S S D C S T C F V S Q S G 385
A
C
A
T
C
A
C
A
G
G
C
T
G
C
T
G
C
C
C
A
C
G
T
G
G
C
T
G
GT AAGTCACCAC CCCACTGCCT
20000
T S Q A A A H V A 394
CGGCCACCGT GATGCTAACA GCCCCTTTGG CAGTCAGGGT CTGTGCCGGG
20050
ACCTCCA
G
T
G
C
C
A
G
G
C
T
C
T
G
T
G
C
A
G
G
G
G
G
A
C
C
A
G
A
G
A
T
G
A
A
G
T
A
G
G
C
C
T
G
20100 |
REPEAT
A
T
G
G
T
G
C
C
T
T
C
A
A
G
G
A
C
A
C
T
C
A
G
T
C
T
G
A
T
G
A
G
G
G
A
G
G
C
G
A
G
T
G
C
A
C
A
G
A
G
20150
G
G
A
A
C
A
C
G
A
G
G
T
C
A
G
G
G
C
T
G
T
A
T
T
A
G
A
G
G
G
A
G
C
C
C
A
G
A
G
G
A
G
G
C
A
C
C
T
G
C
20200 |
var(20152):[A:0.16]
|
var(20184):[A:0.01]
C
C
A
G
C
C
C
G
A
G
G
G
T
C
A
G
A
G
A
A
G
G
C
A
T
C
T
T
G
G
A
G
G
A
G
G
G
A
C
A
T
T
T
G
A
T
C
G
G
G
20250
A
G
C
T
T
G
A
T
G
G
A
T
G
A
A
T
A
G
G
A
G
T
T
T
A
C
C
T
G
G
C
C
G
A
TAAGAC AGCAACTACC
20300 |
var(20274):[C:0.17]
AAGGCTTAGA GGTGTGAGAG GAGGCTGTCT TACCTCACTG AGTAAGGACT
20350
GCAGGCGGCT TACCTTCGAG AAGAGAGCTT AGTGTCTGTG TGCACGTGTG
20400
TTTGTGTGTA TGTGTGTGCG TGTGTGCACT GGCAGGAGTC CCCTGCTGGG
20450
GCAGGAGGGC CGGGCCATCA CCATCTTTCA CCATTCACCC CTGCACCAG
G
20500 | Exon 8
G 395
C
A
T
T
G
C
A
G
C
C
A
T
G
A
T
G
C
T
G
T
C
T
G
C
C
G
A
G
C
C
G
G
A
G
C
T
C
A
C
C
C
T
G
G
C
C
G
A
G
T
20550
I A A M M L S A E P E L T L A E 411
T
G
A
G
G
C
A
G
A
G
A
C
T
G
A
T
C
C
A
C
T
T
C
T
C
T
G
C
C
A
A
A
G
A
T
G
T
C
A
T
C
A
A
T
G
A
G
G
C
C
20600 |
var(20593):[G:0.01]
L R Q R L I H F S A K D V I N E A 428
T
G
G
T
T
C
C
C
T
G
A
G
G
A
C
C
A
G
C
G
G
G
T
A
C
T
G
A
C
C
C
C
C
A
A
C
C
T
G
G
T
G
G
C
C
G
C
C
C
T
20650 |
var(20645):[T:0.02]
|
var(20646):[A:0.03]
W F P E D Q R V L T P N L V A A L 445
G
C
C
C
C
C
C
A
G
C
A
C
C
C
A
T
G
G
G
G
C
A
G
GTAAGCA GGATGGCAGG GTGGGCAAGT
20700
P P S T H G A 452
CCAGGCTGGG GCTTGGGAGG TCTGTGTGAC CTTGACAGTC TCTCCCTTCT
20750
CCCTTGTCTG TGTAAGGAGG ATGACGCCAC CTTAAATAGG ATTAAA
T
GAG
20800 |
var(20797):[G:0.16]
AATGGGGCTC TGAAAGGGCT GTGCAATATT TTCATAACGT GTTTTTATAG
20850
AGACAGTTGA GTATGTTCTT TAAG
C
C
CTCC T
C
TCTCCTAC CATGAACTAA
20900 |
var(20875):[A:0.02]
|
var(20876):[T:0.02]
|
var(20882):[G:0.01]
AGATTT
T
TGT GGAGGTCCCC TCACTCCCAG CACCCCCTCC TCATCC
C
AGG
20950 |
var(20907):[C:0.17]
|
var(20947):[G:0.02]
C
CCTTTTTGC AG
G
T
T
G
G
C
A
G
C
T
G
T
T
T
T
G
C
A
G
G
A
C
T
G
T
G
T
G
G
T
C
A
G
C
A
C
A
C
21000 |
var(20951):[G:0.01]
| Exon 9 |
var(20988):[A:0.17]
G W Q L F C R T V W S A H 465
T
C
G
G
G
G
C
C
T
A
C
A
C
G
G
A
T
G
G
C
C
A
C
A
G
C
C
A
T
C
G
C
C
C
G
C
T
G
C
G
C
C
C
C
A
G
A
T
G
A
21050 |
var(21028):[G:0.17]
|
var(21039):[T:0.04]
S G P T R M A T A I A R C A P D E 482
G
G
A
G
C
T
G
C
T
G
A
G
C
T
G
C
T
C
C
A
G
T
T
T
C
T
C
C
A
G
G
A
G
T
G
G
G
A
A
G
C
G
G
C
G
G
G
G
C
G
21100
E L L S C S S F S R S G K R R G 498
A
G
C
G
C
A
T
G
G
A
G
GTGACTGTA CCCCTCCTTC GTGTGTGTGT GTGTGTGTGT
21150
E R M E 502
GTGTGTGTGT GTGTGTGTGT GTGTGTGTGT GTCAGTGCTG GGCCCTCAGG
21200
GACCCCCAGC AAGCCCCTCC ATCCTCCAGA CTCCAGCTCT TCTGTAAGCT
21250
TACAGGGCTG GCCAGACCAG GAGTGGGGCA CTCCTCACTT CACGCGGCTG
21300
GGGGCTGCTG GAGAGAGCCA CAGCGGGAAG GGTTTCCTAG AGGCTGCAGG
21350
ACAGTGCTGG ATGGATTTTC AATGCTCACC TGGGTGTGAG C
A
TGCGGCAG
21400 |
var(21392):[G:0.33]
GGCCGCGTGA GGGTCAGCGA TCTGCTACTC TGGACTCAGC CATCTCTAGG
21450
CCCCTCTCAC TCAGGTGCTC CATGGTTCTG GGAGCTGAGA AATCTCAAAC
21500
CAGCAAAAAA GTGGAATTGA TGTTGATGCT ACAGGATAGT GCACAGATGC
21550
CATCTGGTTG CAGCATTTTG GTGGAAGGGC AGTGCCCAGC TAGGAGAGTG
21600
AGGAGG
G
GCA GGCATTTCTG GCTTGAGGAG AT
A
GGGTCTT AATGCTCGTG
21650 |
var(21607):[A:0.08]
|
var(21633):[G:0.47]
TGAGAGGCAG AGTGGGTGGA GTGGAGCTGG CTGGATCCTT GCTTTGGCCT
21700
CCTGGATTTC TCTCTATCTC CATTTTGAAA CCA
C
T
C
T
G
T
G
T
T
T
G
G
A
A
G
A
A
21750 |
REPEAT
C
T
T
T
T
G
A
G
T
A
T
T
C
A
G
A
G
C
T
G
C
C
C
A
C
T
G
G
C
A
G
A
A
C
A
G
T
C
T
T
C
C
T
T
G
G
G
C
A
G
21800 |
var(21762):[C:0.02]
G
A
G
T
G
A
G
C
T
C
C
T
T
G
T
C
C
C
C
A
G
A
A
G
G
C
T
G
G
G
T
C
T
G
G
C
T
G
G
C
C
C
C
T
G
G
C
A
G
G
21850
G
A
C
A
C
T
G
A
T
G
A
G
G
G
TGCTTG AGTTGATCCT GTCTAGTCCC TTTCTGTGTT
21900
TTCAAAGCCC ATTCTAAAGC AGATTCCCAT TTC
C
GTCTTT GACTCTAAG
G
21950 |
var(21934):[T:0.01]
| Exon 10
502
C
C
C
A
A
G
G
G
G
G
C
A
A
G
C
T
G
G
T
C
T
G
C
C
G
G
G
C
C
C
A
C
A
A
C
G
C
T
T
T
T
G
G
G
G
G
T
G
A
G
22000
A Q G G K L V C R A H N A F G G E 519
G
G
T
G
T
C
T
A
C
G
C
C
A
T
T
G
C
C
A
G
G
T
G
C
T
G
C
C
T
G
C
T
A
C
C
C
C
A
G
G
C
C
A
A
C
T
G
C
A
G
22050
G V Y A I A R C C L L P Q A N C S 536
C
G
T
C
C
A
C
A
C
A
G
C
T
C
C
A
C
C
A
G
C
T
G
A
G
G
C
C
A
G
C
A
T
G
G
G
G
A
C
C
C
G
T
G
T
C
C
A
C
T
22100
V H T A P P A E A S M G T R V H 552
G
C
C
A
C
C
A
A
C
A
G
G
G
C
C
A
C
G
T
C
C
T
C
A
C
A
G
GTA GGAGGCTGGG CTTGCCCTGG
22150 |
var(22104):[G:0.01]
C H Q Q G H V L T 561
GGTGAGGAGG GGTCTCTTTC TCCTTATGCA CCCACTGCC
C
A
CGAGGCTTG
22200 |
var(22190):[T:0.03]
|
var(22191):[G:0.47]
GTCCTCACAA GTGTGATCCA TGA
G
A
C
T
C
A
A
G
C
C
T
G
A
C
T
T
G
C
A
G
T
T
C
C
A
T
A
22250 |
REPEAT
C
T
C
T
G
G
T
T
C
T
G
C
C
A
C
T
T
C
C
A
T
G
C
C
C
T
T
T
G
A
G
C
C
T
G
G
G
C
A
G
G
T
G
A
C
C
T
T
A
C
22300
T
T
C
T
C
C
T
C
A
T
C
T
C
A
G
C
T
T
C
C
T
C
C
T
C
C
A
T
A
A
G
A
G
G
G
A
A
A
A
A
G
G
T
A
T
T
A
C
C
T
22350
G
C
C
T
C
A
T
T
G
T
G
T
T
G
C
A
A
G
G
A
G
A
T
G
G
G
C
A
G
C
A
T
C
T
A
G
G
G
C
A
C
T
G
G
C
C
T
G
G
A
22400
G
T
A
T
C
G
C
A
G
G
T
G
C
T
TTGCCT AAGGTGGTGC AGTCCAGGAG AGGCAGCTCC
22450
AGAGAGAGGC CCCCGGCTG
G
G
G
C
T
G
A
A
A
G
G
A
G
G
G
C
A
G
A
C
C
T
C
G
G
T
T
T
G
A
A
22500 |
REPEAT
T
T
T
C
A
C
C
C
T
G
C
C
G
C
T
C
G
A
T
A
G
C
T
G
T
G
T
G
A
C
T
T
G
G
G
C
A
A
A
T
T
A
C
T
T
A
A
C
A
T
22550 |
var(22517):[T:0.15]
C
T
C
T
G
T
ATGA GGAAATGATG AGTGCTAAGC ACTTAGCTTA GTGCCGGGAC
22600
AATATAAATT CTAGCTATCG TTACTATTGT TTTCATCACC CGTTGCTTTA
22650
AAATCCAG
T
C TCTGGTATAG GCAACTATTG ACGGGCTACC CTGTGTCGAA
22700 |
var(22659):[C:0.16]
AACATGCCCA GGCAGGTAGC AGGAAGTCAC AGATGGGGAC CTCTTGGGGC
22750
ATCAAGGGAT GGTGCCCTGA GGCTGAGCTG TTCTGGTTGG GTGGAGCATG
22800
AGAGGTCTGG GAAGACAGTG GGACTCCAGC CTGGAATAAG AGGCTCAGAG
22850
TTGATTCTCG TCTGAGCACG TCCAGGGGAA CCACTGAGGG TTTGGGAACA
22900
GGAGAGTGAG GGTGAGAACC TGGTTCTGGG CACAGCAGGC TGGCATGTAG
22950
GATGG
A
TGTT CAGGAAAGAT GAGCATAGTC AGGTGGCTGG TGCCCTTGTC
23000 |
var(22956):[C:0.05]
CAGGGGAGAG GCTCCGTCAG GTTCAGGGGT CCTGGCTTGG AGGGAAGTCC
23050
GCCATGCTCT AATCACGCTC CCCTTTGGAA GTGCTC
G
GCC GATGAGCTCA
23100 |
var(23087):[A:0.49]
CAGGCACATG TCAGTTTGAA GTCATGGAAT CTGACTCCAT GAAGC
G
CACC
23150 |
var(23146):[A:0.02]
TCAAAGAGCA
C
C
A
T
T
T
T
G
C
A
G
C
T
A
A
G
G
G
A
A
C
T
G
C
A
G
G
C
T
G
G
A
C
A
T
G
C
T
G
A
23200 |
REPEAT
G
T
G
G
C
T
G
C
C
C
C
G
A
G
C
C
C
T
T
G
C
A
G
C
T
A
G
G
A
C
A
T
A
G
A
G
A
A
T
G
C
T
A
G
T
A
A
C
C
A
23250 |
var(23219):[G:0.15]
C
A
A
C
C
C
TAC
C
ATGTTCAGAG C
A
C
A
T
G
C
C
A
G
G
C
T
C
C
A
T
G
C
T
G
G
G
G
C
T
T
C
G
C
23300 |
var(23251):[A:0.01]
|
var(23260):[T:0.01]
|
REPEAT
A
C
G
T
G
T
C
A
T
C
T
T
C
A
C
A
G
T
G
T
C
C
C
T
G
T
G
A
G
T
A
G
G
T
G
T
G
G
T
T
T
C
T
C
T
T
T
C
C
A
23350
T
C
T
T
A
C
A
A
A
T
G
A
G
T
A
A
A
C
A
G
A
G
C
C
T
C
A
G
T
G
T
A
G
C
T
A
A
G
T
A
A
C
C
A
C
T
A
T
T
T
23400
T
A
G
G
T
T
T
C
T
T
A
G
C
C
A
A
T
G
G
G
T
G
TGTCTGAC TCCTAAGCCC ATGGAGGGCA
23450
TTCTGAGGTG GTTCAGACAG ACCCC
A
GCTT ACCCTTGAAC TTCTGCCTGC
23500 |
var(23476):[G:0.18]
TGGCTG
C
ATA GGGAGGGGCT GGGGGGAGTT TGAGCATCTC AGGCCATAGA
23550 |
var(23507):[T:0.01]
G
CCCCTGCCT CACTGTCTCC ATCTCTGGGT GGAAAGATGG TGTTTTCCCT
23600 |
var(23551):[A:0.01]
GA
G
A
A
A
C
T
A
A
G
G
C
T
C
A
G
A
G
A
G
G
T
T
G
A
A
T
G
G
C
T
C
T
C
C
C
A
A
G
G
T
C
A
C
A
C
A
G
C
23650 |
REPEAT
|
var(23631):[G:0.02]
T
G
G
T
C
A
G
C
T
G
C
A
G
A
G
T
T
G
A
G
A
A
C
A
C
A
G
G
A
G
T
C
C
T
G
G
T
G
C
T
C
A
G
G
C
C
A
G
C
A
23700
T
C
T
C
T
T
T
TTT TCTTTGAGTT GTTTCTAGGT TTCCTAGCTC TTGCCTCAGA
23750
CCTTAAAGAG AGAGGGTCTG ATGGGGATGG GCACTGGAGA CGGAGCATCC
23800
CAGCATTTCA CATCTGAGCT GGCTTTCCTC TGCCCCAG
G
C
T
G
C
A
G
C
T
C
C
C
23850 | Exon 11
G C S S 565
A
C
T
G
G
G
A
G
G
T
G
G
A
G
G
A
C
C
T
T
G
G
C
A
C
C
C
A
C
A
A
G
C
C
G
C
C
T
G
T
G
C
T
G
A
G
G
C
C
A
23900
H W E V E D L G T H K P P V L R P 582
C
G
A
G
G
T
C
A
G
C
C
C
A
A
C
C
A
G
T
G
C
G
T
G
G
G
C
C
A
C
A
G
G
G
A
G
G
C
C
A
G
C
A
T
C
C
A
C
G
C
23950
R G Q P N Q C V G H R E A S I H A 599
T
T
C
C
T
G
C
T
G
C
C
A
T
G
C
C
C
C
A
G
G
T
C
T
G
G
A
A
T
G
C
A
A
A
G
T
C
A
A
G
G
A
G
C
A
T
G
G
A
A
24000
S C C H A P G L E C K V K E H G 615
T
C
C
C
G
G
C
C
C
C
T
C
A
G
G
A
G
C
A
G
GTGAAGAGGC CCGTGAGGCC GGGTGGGTGG
24050 |
var(24013):[C:0.01]
I P A P Q E Q 622
GGTGCTGCGT GTCTCTCCTG CACAGCTTTT CTGTGTCAGT TTGTGCCACC
24100
ACCATACCGC CAT
A
CATCAG GGTGG
C
GGTT TGCCAGGTAG ATGCTGTGGG
24150 |
var(24114):[G:0.48]
|
var(24126):[T:0.06]
CAGCTTCCGC CATTGTGTGG ACAGCATGTA TATGTGTCTC TGTGTGGCTG
24200
GGTCTGTTTT TGCTTTTGTC CAGATCAGTA AGGTTTGCTA CCTGGGTACC
24250
CCACTCCACT TGGAGTAGA
G
T
G
TGCATAAA TATGGCATAA AGAAATGCAA
24300 |
var(24270):[A:0.19]
|
var(24272):[C:0.01]
TATGCATGCA TTTATTGATT GATCTA
T
T
T
T
T
T
T
C
T
G
A
G
A
T
G
G
G
G
T
C
T
T
G
C
24350 |
REPEAT
T
G
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
T
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
C
T
G
G
T
24400
C
T
C
A
G
C
C
T
C
C
C
C
A
A
G
T
G
T
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
G
C
T
G
C
A
C
C
T
G
G
C
24450
C
TCTCTGATC TATTTAACAA ACCTGCTGGG AGGGTCTCAG GGTCAGGAGC
24500
AGCACTGGGC TCTGAGGACA CAGAGCTCAC TCAGCCGTGA CCCAGAGGGG
24550
GTGCCTGAGC TGCATGCTGA AGGTTGTTAG CATGACCAGC AAGGCAAGAA
24600
AAGGCCCTGC C
G
A
GATTAGC AAGGCATGTG CCAAGCCCTG GAATGTGACA
24650 |
var(24612):[A:0.01]
|
var(24613):[G:0.01]
GCCGGGCCTT CTAGAAACCT GAGTGTATAA CTCTCCTTAA AAGCCAGTAG
24700
GAGCTCCT
T
A AAAGGCAGCC CTAAGGAGTC CACTCTTAAA TGAACTCAGA
24750 |
var(24709):[C:0.17]
GTCAGTTTTA AAATGCAAGT CTGTGTTGAT TCTGGTCTGG ATGGTGCATT
24800
CCTCGAGAGC AAAAGACAGT CTTGGTCTTG GATCCACTTG CCCTGGGTAC
24850
A
C
T
G
A
G
G
G
C
T
G
C
T
A
G
G
T
T
C
C
A
G
G
T
G
C
T
C
T
T
C
C
T
G
G
C
A
C
T
G
G
G
G
A
G
G
G
A
T
A
24900 |
REPEAT
C
A
G
G
C
C
C
A
A
G
A
G
A
C
A
T
G
C
T
G
T
T
C
T
C
C
C
T
C
C
T
G
G
A
G
C
A
T
C
T
A
T
T
T
T
A
G
T
G
G
24950
A
G
G
A
A
G
A
C
A
G
A
A
A
A
C
A
A
A
C
C
A
T
T
A
A
T
A
T
A
G
A
G
T
A
C
T
G
A
A
A
A
G
A
T
G
C
G
A
T
G
25000
G
A
G
A
A
A
A
C
T
A
T
A
G
C
A
A
G
G
A
A
G
G
G
A
A
T
G
G
G
G
T
G
G
G
A
G
A
G
A
G
G
T
C
A
G
G
A
G
A
G
25050
G
TCTCGCTGA CAAGGTGGAC GAAAC
A
G
G
C
C
A
T
G
A
G
G
C
A
G
A
G
A
A
C
A
T
G
T
T
C
25100 |
REPEAT
C
A
G
G
C
A
A
A
G
C
A
A
A
G
G
C
C
C
C
C
A
G
G
T
G
G
G
G
A
T
G
T
G
C
A
G
G
G
A
G
T
A
C
C
A
G
G
A
A
A
25150
C
C
A
G
A
G
A
G
G
T
G
G
G
A
A
T
A
G
T
T
A
T
G
A
G
A
T
G
G
G
G
G
G
T
G
C
C
T
C
A
G
A
G
G
G
G
A
C
A
G
25200
G
G
C
C
A
A
G
T
C
A
G
G
T
G
A
G
A
C
C
T
G
A
G
G
G
C
C
A
C
A
G
T
C
A
G
C
A
G
T
G
A
G
C
T
G
G
G
G
C
C
25250 |
var(25226):[T:0.04]
A
T
G
C
A
G
G
G
G
T
C
T
G
G
C
C
T
C
A
G
A
G
G
A
G
T
G
T
G
G
T
C
T
G
G
C
C
T
G
G
A
T
C
T
G
A
A
C
C
T
25300 |
var(25252):[C:0.01]
C
T
C
A
C
T
G
T
G
G
C
C
T
A
G
C
T
G
C
T
G
A
G
C
T
G
A
G
A
A
G
A
G
A
T
G
A
C
A
A
G
G
A
C
C
T
T
G
G
G
25350
C
A
G
A
A
G
C
A
G
G
G
A
G
A
C
T
G
G
A
G
G
G
A
G
G
C
G
G
T
G
G
A
G
G
G
T
C
C
A
G
G
C
G
T
T
G
G
G
G
C
25400 |
var(25397):[A:0.01]
G
G
G
G
C
T
C
A
G
G
C
T
G
G
A
G
T
C
T
G
A
A
G
G
G
A
G
C
C
T
G
C
A
G
G
C
C
T
G
G
T
G
G
G
T
G
G
A
T
G
25450 |
var(25420):[A:0.17]
T
G
G
G
T
G
G
G
A
G
A
G
G
G
G
G
A
G
G
A
T
G
G
C
A
C
C
A
A
G
G
C
T
C
G
G
G
C
C
C
C
T
G
G
A
C
A
G
A
T
25500 |
var(25462):[C:0.04]
G
G
A
G
T
T
G
C
C
A
T
T
A
A
G
T
G
G
G
A
T
G
G
G
G
C
A
G
G
C
T
A
T
G
G
G
G
C
C
A
T
C
A
G
T
T
T
C
A
G
25550
A
G
G
G
A
T
G
A
G
T
T
T
G
G
C
A
C
T
G
G
C
A
T
G
G
T
A
G
G
C ATCTGTCTAT CTCCACG
G
CC
25600 |
var(25598):[C:0.28]
CTCAAACCAG GCATGAAGCA GGAGCTCACG TGTTTGGTCA GCCATGGTGC
25650
AGAACCGCCT GGGTGGGAGG TGCGGGGTGG GAGATACACG GTTGTGTCCC
25700
AAATGGGCTC TGAGCCAGCG AGGGCCGTCT GCACTTTGGC CTCACAGAAG
25750
GATGTCGGAG GGAGAAATGA AGTGTGGGTG GGGGTCCCGG GCCA
C
GCTAG
25800 |
var(25795):[T:0.01]
ACATGTGCTT TCTTTTCCTC GGGCTCTGGC AG
G
T
G
A
C
C
G
T
G
G
C
C
T
G
C
G
A
G
25850 | Exon 12 |
var(25838):[T:0.01]
V T V A C E 628
G
A
G
G
G
C
T
G
G
A
C
C
C
T
G
A
C
T
G
G
C
T
G
C
A
G
T
G
C
C
C
T
C
C
C
T
G
G
G
A
C
C
T
C
C
C
A
C
G
T
25900
E G W T L T G C S A L P G T S H V 645
C
C
T
G
G
G
G
G
C
C
T
A
C
G
C
C
G
T
A
G
A
C
A
A
C
A
C
G
T
G
T
G
T
A
G
T
C
A
G
G
A
G
C
C
G
G
G
A
C
G
25950
L G A Y A V D N T C V V R S R D 661
T
C
A
G
C
A
C
T
A
C
A
G
G
C
A
G
C
A
C
C
A
G
C
G
A
A
G
A
G
G
C
C
G
T
G
A
C
A
G
C
C
G
T
T
G
C
C
A
T
C
26000 |
var(25978):[G:0.20]
V S T T G S T S E E A V T A V A I 678
T
G
C
T
G
C
C
G
G
A
G
C
C
G
G
C
A
C
C
T
G
G
C
G
C
A
G
G
C
C
T
C
C
C
A
G
G
A
G
C
T
C
C
A
G
T
G
A
C
A
26050 |
var(26006):[A:0.01]
|
UTR
C C R S R H L A Q A S Q E L Q 693
G
C
C
C
C
A
T
C
C
C
A
G
G
A
T
G
G
G
T
G
T
C
T
G
G
G
G
A
G
G
G
T
C
A
A
G
G
G
C
T
G
G
G
G
C
T
G
A
G
C
26100
T
T
T
A
A
A
A
T
G
G
T
T
C
C
G
A
C
T
T
G
T
C
C
C
T
C
T
C
T
C
A
G
C
C
C
T
C
C
A
T
G
G
C
C
T
G
G
C
A
C
26150 |
var(26123):[T:0.03]
G
A
G
G
G
G
A
T
G
G
G
G
A
T
G
C
T
T
C
C
G
C
C
T
T
T
C
C
G
G
G
G
C
T
G
C
T
G
G
C
C
T
G
G
C
C
C
T
T
G
26200
A
G
T
G
G
G
G
C
A
G
C
C
T
C
C
T
T
G
C
C
T
G
G
A
A
C
T
C
A
C
T
C
A
C
T
C
T
G
G
G
T
G
C
C
T
C
C
T
C
C
26250
C
C
A
G
G
T
G
G
A
G
G
T
G
C
C
A
G
G
A
A
G
C
T
C
C
C
T
C
C
C
T
C
A
C
T
G
T
G
G
G
G
C
A
T
T
T
C
A
C
C
26300
A
T
T
C
A
A
A
C
A
G
G
T
C
G
A
G
C
T
G
T
G
C
T
C
G
G
G
T
G
C
T
G
C
C
A
G
C
T
G
C
T
C
C
C
A
A
T
G
T
G
26350
C
C
G
A
T
G
T
C
C
G
T
G
G
G
C
A
G
A
A
T
G
A
C
T
T
T
T
A
T
T
G
A
G
C
T
C
T
T
G
T
T
C
C
G
T
G
C
C
A
G
26400 |
var(26393):[T:0.04]
G
C
A
T
T
C
A
A
T
C
C
T
C
A
G
G
T
C
T
C
C
A
C
C
A
A
G
G
A
G
G
C
A
G
G
A
T
T
C
T
T
C
C
C
A
T
G
G
A
T
26450
A
G
G
G
G
A
G
G
G
G
G
C
G
G
T
A
G
G
G
G
C
T
G
C
A
G
G
G
A
C
A
A
A
C
A
T
C
G
T
T
G
G
G
G
G
G
T
G
A
G
26500 |
var(26462):[T:0.05]
|
var(26492):[C:0.06]
|
var(26500):[A:0.01]
T
G
T
G
A
A
A
G
G
T
G
C
T
G
A
T
G
G
C
C
C
T
C
A
T
C
T
C
C
A
G
C
T
A
A
C
T
G
T
G
G
A
G
A
A
G
C
C
C
C
26550
T
G
G
G
G
G
C
T
C
C
C
T
G
A
T
T
A
A
T
G
G
A
G
G
C
T
T
A
G
C
T
T
T
C
T
G
G
A
T
G
G
C
A
T
C
T
A
G
C
C
26600
A
G
A
G
G
C
T
G
G
A
G
A
C
A
G
G
T
G
T
G
C
C
C
C
T
G
G
T
G
G
T
C
A
C
A
G
G
C
T
G
T
G
C
C
T
T
G
G
T
T
26650 |
var(26619):[C:0.42]
T
C
C
T
G
A
G
C
C
A
C
C
T
T
T
A
C
T
C
T
G
C
T
C
T
A
T
G
C
C
A
G
G
C
T
G
T
G
C
T
A
G
C
A
A
C
A
C
C
C
26700 |
var(26662):[T:0.01]
A
A
A
G
G
T
G
G
C
C
T
G
C
G
G
G
G
A
G
C
C
A
T
C
A
C
C
T
A
G
G
A
C
T
G
A
C
T
C
G
G
C
A
G
T
G
T
G
C
A
26750
G
T
G
G
T
G
C
A
T
G
C
A
C
T
G
T
C
T
C
A
G
C
C
A
A
C
C
C
G
C
T
C
C
A
C
T
A
C
C
C
G
G
C
A
G
G
G
T
A
C
26800 |
REPEAT
A
C
A
T
T
C
G
C
A
C
C
C
C
T
A
C
T
T
C
A
C
A
G
A
G
G
A
A
G
A
A
A
C
C
T
G
G
A
A
C
C
A
G
A
G
G
G
G
G
C
26850 |
var(26812):[A:0.01]
G
T
G
C
C
T
G
C
C
A
A
G
C
T
C
A
C
A
C
A
G
C
A
G
G
A
A
C
T
G
A
G
C
C
A
G
A
A
A
C
G
C
A
G
A
T
T
G
G
G
26900 |
var(26891):[A:0.01]
|
var(26897):[C:0.01]
C
T
G
G
C
T
C
T
G
A
A
G
C
C
A
A
G
C
C
T
C
T
T
C
T
T
A
C
T
T
C
A
C
C
C
G
G
C
T
G
G
G
C
T
C
C
T
C
A
T
26950
T
T
T
T
A
C
G
G
G
T
A
A
C
A
G
T
G
A
G
G
C
T
G
G
G
A
A
G
G
G
G
A
A
C
A
C
A
G
A
C
C
A
G
G
A
A
G
C
T
C
27000
G
G
T
G
A
G
T
G
A
T
G
G
C
A
G
A
A
C
G
A
T
G
C
C
T
G
C
A
G
G
C
A
T
G
G
A
A
C
T
T
T
T
T
C
C
G
T
T
A
T
27050 |
var(27018):[T:0.01]
C
A
C
C
C
A
G
G
C
C
T
G
A
T
T
C
A
C
T
G
G
C
C
T
G
G
C
G
G
A
G
A
T
G
C
T
T
C
T
A
A
G
G
C
A
T
G
G
T
C
27100
G
G
G
G
G
A
G
A
G
G
G
C
C
A
A
C
A
A
C
T
G
T
C
C
C
T
C
C
T
T
G
A
G
C
A
C
C
A
G
C
C
C
C
A
C
C
C
A
A
G
27150
C
A
A
G
C
A
G
A
C
A
T
T
T
A
T
C
T
T
T
T
G
G
G
T
C
T
G
T
C
C
T
C
T
C
T
G
T
T
G
C
C
T
T
T
T
T
A
C
A
G
27200
C
C
A
A
C
T
T
T
T
C
T
A
G
A
C
C
T
G
T
T
T
T
G
C
T
T
T
T
G
T
A
A
C
T
T
G
A
A
G
A
T
A
T
T
T
A
T
T
C
T
27250
G
G
G
T
T
T
T
G
T
A
G
C
A
T
T
T
T
T
A
T
T
A
A
T
A
T
G
G
T
G
A
C
T
T
T
T
T
A
A
A
A
T
A
A
A
A
A
C
A
A
27300
A
C
A
A
A
C
G
T
T
G
T
C
C
T
AACTCT TGCATAGACT TGACTGCCTA GGGTGATGCC
27350
TTGCTTATAC TAGGAACTGG GTAAGTTTGT TGAATAGTTG AGTAAGCCAA
27400
GTATTTGAT
G
A
G
T
GAGTACT T
G
TATCTTGA GTACAAGTAT TGGGCAAGTA
27450 |
var(27410):[:0.93]
|
var(27422):[T:0.03]
CTGGTGAT
G
T GAACTTACTC CTTGTGCCTA TCCTAGGAAT GAAATGAATG
27500 |
var(27459):[A:0.03]
TCTTCCTGCA GCTCCCCTGA CCACCCTGAC AGTCAAAGTG CCTCCTCCTT
27550
GGTGACAGGT GCCCTACAGC ACTCTAGATG CTCTGTTGTC CTGACCTCCC
27600
AATGCCCTTT TCATTCTTTT CTCCC
C
AGTA CCTGGCACAC AGCCTGGCCC
27650 |
var(27626):[G:0.05]
GAGTATTTAC GGAATAAGTT ACAGTGCCAG ATGCTTCTGT AATGAGCCAG
27700
TGCTAAGTCC ATGGCTTTTT TCATGATTTA AAATTCAGAA CAGTCTCAGA
27750
TT
G
G
G
T
G
C
A
A
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
T
C
A
G
T
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
27800 |
REPEAT
C
A
G
G
A
G
G
A
T
T
G
C
T
T
G
T
G
T
T
T
A
G
G
A
A
T
T
C
A
A
G
A
C
C
C
T
G
G
G
C
A
A
C
A
G
T
G
A
G
A
27850
C
C
C
C
G
T
C
T
C
T
A
T
A
A
A
A
A
A
A
T
T
T
A
A
A
A
G
A
T
T
A
G
C
G
A
G
G
T
G
T
G
G
T
A
G
C
A
C
A
T
27900 |
var(27883):[T:0.01]
G
C
C
T
G
T
G
G
T
C
C
C
G
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
C
A
T
G
G
G
A
G
G
C
T
T
G
C
T
T
G
A
G
C
27950 |
var(27931):[T:0.29]
|
var(27934):[T:0.01]
T
G
G
G
A
G
G
C
T
G
A
G
G
G
T
G
C
A
G
T
G
A
G
C
T
G
T
A
A
T
T
A
C
A
T
C
A
T
C
A
C
T
G
C
A
C
T
G
C
A
28000
G
C
C
T
G
G
G
T
T
A
C
A
G
A
G
T
G
CAT AATGATCCCA TTCAATGTGG GACCTCCAGG
28050
CCCTCCACTC TAAGGCTGGT GAATATAGCT GTCTTAAGCA AGTTCTCTCT
28100
CTCTCTAGAC AGCCCATGTC ATAAGGAATC TCAGGCAAAA TTCCTCCCAG
28150
ATTACATTTT CTGACAATTC AGTGTCATAT ATGGAAAGCA TTCAAGAGTT
28200
GACAGATGGC AATGGCTTGA ACACCCAACT GTGTTATCTC TGCCCGTTGG
28250
AACCTAGGCC TGTGGTGCAA CCCTAGACTC TCTCTCCTTC CCCTCCACAG
28300
AATCAAGTAT CAGCTGGTTA GA
G
ATCCACA CCCTGACAGC TCTGTGATGT
28350 |
var(28323):[T:0.04]
TGGAACAACT TGGTTCTTGC AGAGGGTTAG CAGGTGGTCA CCAGGGATCG
28400
GGGAGGAAGG GGTGTGGCTT GCAGGAAGG
C
GAAAATCTGG ACTAGCAAAT
28450 |
var(28430):[T:0.04]
AGGGAAGGGG ACCCATGTGA GCAACGCTGG CCACTAGGAA TGAGACTGAG
28500
ACCTGTGGGA TCTAGCAAGA AGCCCAGTGT GACCAG
C
GAC ACGATCTATG
28550 |
var(28537):[T:0.01]
CTGGGGACCA CTTGG
G
AGAG CCAAAAGCTT TGGTGGAG
A
T GAATGGAGAC
28600 |
var(28566):[C:0.01]
|
var(28589):[G:0.01]
CATCAACCTA AGTTCAGCAT CCTCCTCTAA GCTTTGCAGA TGAATCCTGA
28650
AATGGTCAGC CCCTCCAGAG AAAAGAACAG CAACAGGCTC AGAGGACCCA
28700
CAGTCCCCTT TATTAGTGTA AA
G
T
A
GTACT AAGAGGAATC AACAGCATTT
28750 |
var(28723):[:0.99]
AGCACCAGGC ACAGGCTCGT GTTCCCCCGC CCACTA
C
GGC TGTGTTCTGA
28800 |
var(28787):[T:0.01]
TATATGAAGA ATGGCGGCAA GACTCCAACT CTGTTTTTGA AAAATTTATT
28850
TTATACTCTT AGAAGCTAAG AACTTTGCCA CACATGAACC AAATTTAGAA
28900
TTAAGGTTC
T
TCCCTAGTGT ATCTACTTCC TTTTGAAAT
T
TTATAAACAA
28950 |
var(28910):[C:0.01]
|
var(28940):[G:0.01]
GATTTTATAC ACAAGAGGTA GCAGAGGAAA ATTCCAGTCT GCTTGTTCCA
29000
AGCTCAGAAG GTAACTGCAC ACACCTCGAT GTTAGCAGGG AAGGTGGGGC
29050
AGGACAGGGT AAGTCTGATG ATACGGCACT CTAGTTCCTA AAACTGACTG
29100
TAGTTGTCAG TGACCGTGTG AGGACTCCAG GAGAAGTCGT GGTGAGATGC
29150
CCGCTGGGAT GCTTGTTTTC TTTCCCAGGA TGCCTTCAAC GGGCAGAATC
29200
GGCCATCTTA AGATCGGCCT CACTAAGGGA GCTTCTTGAG AACACACAGC
29250
ATTATTGAGT TAATTGTGCA ATTCCT