C5 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
GTTCATCTGT GAGCCACATT TAGAAGGTAG ATAAAAAATT TTGACTAAAC
50
ACAGCTTAGA ATCTATAAAT TGTTAAACTT CAGTTCTGTT GAGAATCTTT
100
GA
G
ATCCATC ATTCTCTAAA TGTTTTCTAC CAGAGAAACA GGACAATGGC
150 |
var(103):[A:0.05]
TTGCAAATAT TGGTTATCAG TATTTACTCT ATAGCTCAAG CAAACAAACT
200
TATTTGCACT TAAAATACAA ATATTACCTA CCTTGATTTG AGTGTTGTTG
250
TTCTCTCTTA AATTTCATTT CCCAAAAATG ATGGCAAAAG TACTGTTTGT
300
TTTAACTTGA CCCATCTTTT GCAACCCAGC TTAATCATTT CACAGATTCC
350
CTTTTGAAAT AAATGGGCTA GATGATCAGA CAATAGTGGC AAATGTTTGT
400
CATTTCAATG ACATATGCAA GAGATACCTT TAG
T
GAAATT TGTATATCAA
450 |
var(434):[C:0.01]
ATTTCCCTTT GTGCTCCTTT TTTCCCTAGT GAATTCAGCA TTAAAGTGTT
500
TATAAATATT TTTGGTTTAT TATTTATTAA TTCAAAGCAA AGAATGCCAA
550
TGTGACCATA AATATCTCAT TTATATATCA TAAATATCTC ATTATAGAAA
600
TATGTTTAGA GACATCTGTT TTATTATTTT AAAGAAGAGT ACATATTATA
650
TATTAAGGTA AAAATAGTAC TAAAAAAGAG AAGGTAGTAA ATAAAAAAAT
700
TCTAATGAAC ATAAAACATC ATAAAAATTA ACTTAATTAA AAATC
A
G
C
C
A
750 |
REPEAT
G
G
C
A
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
T
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
T
G
G
800
G
T
G
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
G
G
C
C
A
A
C
A
C
G
G
T
G
A
850
A
A
C
C
C
T
A
C
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
G
G
A
T
G
T
G
A
T
G
G
G
A
C
A
900
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
C
C
T
T
G
A
A
950
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
C
C
T
G
A
G
C
C
A
A
G
A
T
A
G
T
G
C
C
A
C
T
A
G
A
C
T
C
C
A
G
1000
C
C
T
G
G
G
C
G
A
C
A
G
A
A
A
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
A
GTATA
1050
AAGATAAAAT TTTAGTATAT TGTGAATTAA TTACTAGACT CAATTGTTAT
1100
AGGAAGCTTT GTTTTTCTGG AGCTCTTATA TTAAAATTAT TAAAATCCTC
1150
ACTGAAAAGT ATAACATGTG TTTTCTTTAA AAGAAAGATA TTCTATATCT
1200
GAATAAAGAC AAACTTTGAA CGAGTGGTAT ATGCCTTAAT AAATATTGGA
1250
GAATATCTAT TCTCCAATAC TTAGAGAATG ACGACAGCAT CCTCCACATG
1300
GCGTTTTCAT TGCCAGTCAC AACTTTCCTC CACCTAGTGT TCTCTAGACT
1350
GAGACAGACC AAGGAACAAT TCCCTAGACC TCCTTTGCAG AGCTAGGTTA
1400
TGCTCAGACC ATTTGCAGCA CCAAGGACAC TGCCATTCAG GTCACCAAAA
1450
AAAGATCATC TTGTGAGCCC TGTCTAAACC AGGCCCCTTC TAAAATCATT
1500
TCAGTGTGAA ACTGAGTCCA GGTGGGTCTT CATCAGTATT AGAGTGGACC
1550
TGCCAGATGT ATGCTTG
C
AG ATGATGCAAC ATCAAAGCAA ATGCCCTGGG
1600 |
var(1568):[G:0.02]
CAAGAGAAGA AAGGCCAAAG CAATGGGCTT ACTGGTTTCT AGCTTTGAGC
1650
CACTCTTCAT AGTGCCAAAT TCCCATTTTA GGGTCCCTTT ATTTGTATTA
1700
ATAAAAATAA ATTCCCTGGG TGTAAGTTCC TGTAAAGTAC TCCCTATCTG
1750
TATTCCTGGG CATGAAAGGG TGTTTTAGTT CCAATTCTAG TTTTCCCACT
1800
TAGAGGTTCA CCTTTCTGAC ATTAATAATT AACCAGATTA TCTGAATTCT
1850
TCAAGTTCAG TTTATTTAAA AGGAGACTAT CCTCAAAAGT GT
T
A
T
A
T
C
C
G
1900 | Exon 1 |
UTR
T
G
G
T
T
T
C
C
T
G
C
T
A
C
C
T
C
C
A
A
C
C
A
T
G
G
G
C
C
T
T
T
T
G
G
G
A
A
T
A
C
T
T
T
G
T
T
T
T
T
1950
M G L L G I L C F 9
T
A
A
T
C
T
T
C
C
T
G
G
G
G
A
A
A
A
C
C
T
G
G
G
G
A
C
A
G
G
A
G
C
A
A
A
C
GTA AGTAAAACAA
2000
L I F L G K T W G Q E Q T 22
GCTATCTTCA TTTTTCAATG CATCTTAGTT ATGACGAATG AAGAGTTAAA
2050
TTTAACAGAT TCTGTTAACT TGAAAATAAC TTGCTACTTC TGAGAACAGC
2100
AAGTGAATAG TATCATCTCT GAATGAGAAA GTCATGGAAG CATTTTGATT
2150
TGATGAGTAG CTAACAACAT GACAGCTTTT ATGGAATTGT TATTTATTAA
2200
AATTTACGT
T
AAGTGATTAT TCAAATTCCT CTTCAAAAAA GCACAAAAGA
2250 |
var(2210):[:0.68]
AACTCCAGAT AATAAACTTT CTTGACATTT TTTGCTTATT TTAACTTGGT
2300
GTTTAGTTTT CTTTGTGTTT TTCATAGACT ATACACAGTT AAACCAGGGT
2350
TATTTAGGAG TCAATCTAAT ACTGTGATCT GAAAATCTGT TGTTGTAGTG
2400
ACTTCTACCA TACATTTATG AGCTGACTTT TCACAATTTT TAGTGTCATT
2450
ATTGAGATAA TATGCATTTT AAGTAATGTT TTAAAAATAA TGATCTTATA
2500
TCTAGAAATA TTTTAATA
C
T
G
A
A
A
A
G
T
A
A
C
T
G
C
A
G
A
T
C
A
T
C
T
A
A
T
C
A
A
A
C
2550 |
REPEAT
C
T
A
T
T
C
A
T
T
T
T
A
T
A
T
A
T
G
A
G
A
A
T
A
A
G
T
C
C
A
G
A
T
A
A
G
G
G
A
A
G
T
G
A
C
T
G
A
C
C
2600
A
A
A
G
G
T
C
A
C
A
G
T
T
C
T
A
G
A
G
A
G
A
G
A
G
A
A
A
C
A
G
G
A
T
T
T
T
T
A
T
T
A
A
G
G
T
C
T
C
C
2650
T
G
TTTATCAC TTCAATTTTT TTCATTTTGT CATAAATGTA TACATGTAAA
2700
TATATTATAT ATAAACACAT ACTTAGGAT
G
TCATTCTTTT TTAGCACCCT
2750 |
var(2730):[A:0.16]
CGTATTTCTG ATCTGTGATC TTTTTACATG GCCACAAGCA CTCAACTACC
2800
TTAGCATCCT GCCT
T
TATTC TT
T
T
T
G
A
A
A
G
A
C
G
A
G
C
A
G
C
T
A
A
G
G
C
T
T
A
G
A
2850 |
var(2815):[C:0.02]
|
REPEAT
G
A
G
A
C
T
G
A
A
A
T
T
A
A
G
T
G
A
C
T
T
C
A
A
A
T
T
G
G
T
G
G
C
A
G
A
A
C
T
A
G
G
G
C
T
A
G
G
A
C
2900
C
T
G
G
G
T
T
C
C
A
T
G
A
T
T
C
T
T
G
T
C
C
A
G
A
C
T
T
A
T
T
C
T
G
AATTCT TTCTACTAGC
2950
CCTTAATAAA AATTATTTCC TCACTTTCTC TGAAGAAGTC AGAGTGTACC
3000
ATTTACA
A
C
A
T
G
G
C
A
A
T
C
A
A
T
C
A
C
T
T
T
A
A
T
T
A
A
T
T
G
G
T
T
G
A
T
T
G
A
T
T
G
A
T
3050 |
NOT SCANNED
|
REPEAT
T
C
A
A
C
A
A
A
T
A
T
T
T
A
T
T
G
A
G
C
A
T
C
T
A
A
A
C
A
T
A
T
G
A
T
A
G
G
C
A
C
T
G
C
A
G
A
T
A
T
3100
A
G
C
A
A
A
C
G
G
T
A
A
G
A
C
A
A
T
T
C
C
T
A
G
A
G
C
T
T
G
C
A
T
T
C
T
A
G
T
G
G
G
A
G
A
A
G
C
A
A
3150
G
T
A
A
T
G
A
A
T
G
A
A
T
G
A
A
C
C
A
A
T
G
A
A
A
G
A
A
T
G
T
G
T
A
A
G
G
T
C
A
G
G
T
A
G
G
T
A
G
T
3200
A
T
T
A
T
G
A
A
G
A
A
A
A
A
A
A
T
A
A
A
G
C
A
G
A
G
T
A
T
G
A
G
A
A
T
T
A
A
A
A
A
A
T
A
A
T
T
A
T
G
3250
G
G
G
C
A
C
T
A
T
T
T
T
A
A
A
A
T
G
T
G
G
C
C
A
G
G
A
A
A
G
G
T
T
C
T
C
T
T
A
A
G
G
A
G
G
C
T
G
C
A
3300
C
T
C
A
A
A
C
A
G
A
G
C
C
T
G
A
A
G
G
A
A
G
T
G
A
G
G
A
A
G
C
A
A
A
C
C
A
T
G
C
A
A
A
T
A
T
T
T
G
A
3350
G
G
A
A
A
G
A
G
C
A
T
T
C
C
A
G
A
T
A
G
A
G
G
C
C
A
A
A
A
T
A
A
C
A
T
T
C
T
T
G
C
C
T
C
T
C
T
G
C
A
3400
A
G
C
T
C
C
T
G
C
T
C
C
T
C
T
G
C
A
G
C
A
A
T
T
G
A
A
A
G
A
C
A
A
A
G
A
A
A
A
C
T
A
T
G
A
A
A
T
T
A
3450
T
T
T
A
T
A
T
G
G
A
T
A
G
A
T
T
A
T
G
C
T
A
C
T
G
A
T
A
A
G
T
C
A
A
T
A
A
G
A
A
C
C
A
A
A
A
T
C
T
T
3500
T
A
T
A
A
A
G
G
G
T
G
G
T
T
C
C
A
G
A
A
T
A
T
T
C
T
T
T
T
A
G
G
G
G
C
T
T
C
T
A
A
A
C
A
C
T
A
T
G
T
3550
A
T
T
T
T
T
G
C
T
T
G
A
C
G
G
C
T
A
C
C
A
T
C
A
C
A
T
A
G
A
C
C
A
G
C
A
G
T
C
C
C
C
A
A
C
C
A
T
T
T
3600 |
REPEAT
T
G
G
C
A
C
T
A
G
G
G
A
C
A
G
G
T
T
T
T
G
T
G
G
A
A
G
A
C
A
A
T
G
T
T
T
C
C
A
T
G
G
A
C
C
A
G
G
A
T
3650
T
G
G
G
G
T
G
G
G
G
A
T
G
G
T
T
T
C
A
G
A
A
T
G
A
A
A
C
T
G
T
T
C
C
A
C
T
T
C
A
G
A
T
C
A
T
C
A
G
G
3700
C
A
T
T
A
T
A
T
T
C
T
C
A
T
A
A
G
G
A
G
C
T
T
G
C
A
A
T
C
T
A
G
A
T
C
C
C
T
C
G
C
A
T
G
T
G
C
G
G
T
3750
T
C
A
C
A
A
T
A
G
A
G
T
T
C
A
T
G
C
T
C
C
T
A
G
G
A
G
A
A
T
C
T
A
A
T
G
C
C
A
C
C
A
C
T
G
A
T
C
T
G
3800
A
C
A
G
G
A
G
G
C
A
G
A
G
C
T
C
A
G
G
T
G
G
T
A
A
T
G
C
T
C
C
T
T
T
G
C
C
C
C
A
C
T
G
C
T
C
A
C
C
T
3850
C
C
T
G
C
T
G
T
G
T
A
G
C
C
T
G
G
T
T
C
C
T
A
A
C
A
A
G
C
C
A
T
G
G
A
C
T
G
G
T
A
T
T
T
G
T
C
C
A
T
3900
G
G
C
C
C
A
G
G
G
G
T
T
G
G
G
G
A
C
C
C
C
T
A
C
C
A
T
A
C
A
C
A
A
T
T
C
A
A
A
A
T
T
A
A
A
G
C
A
A
T
3950
A
C
T
A
A
A
C
T
T
A
A
A
A
A
C
A
T
A
A
A
G
C
T
T
C
T
A
T
A
A
A
T
A
C
T
G
A
A
A
T
T
A
A
A
G
T
A
G
C
T
4000
T
T
A
T
A
T
C
C
C
T
A
A
A
T
T
T
T
T
C
T
A
A
T
T
A
C
A
A
A
A
C
T
C
T
T
T
A
T
A
A
A
T
T
C
C
A
T
T
T
A
4050 |
REPEAT
G
T
A
C
A
A
C
A
G
T
T
G
A
A
A
A
T
G
T
T
A
A
T
T
C
T
G
G
A
A
A
C
G
G
G
C
T
G
C
T
C
A
G
G
T
T
C
G
A
T
4100
T
T
C
T
A
A
T
T
C
T
A
T
A
A
T
T
T
G
T
G
A
A
T
T
A
T
A
G
A
A
T
T
C
A
T
A
A
A
T
C
C
T
A
T
A
T
G
T
G
T
4150
G
G
C
C
T
T
G
G
G
A
A
A
A
T
T
A
A
T
T
A
G
C
A
G
T
T
T
C
T
T
C
A
C
C
T
T
A
A
A
A
T
T
G
G
A
G
T
A
A
T
4200
A
G
T
T
C
C
T
C
A
C
A
G
A
G
T
G
G
T
T
G
T
A
A
T
G
A
C
A
C
A
A
T
G
A
G
T
T
T
A
T
A
C
A
A
A
T
A
A
A
G
4250
T
A
T
T
C
A
G
A
A
T
A
G
T
G
C
C
T
T
A
T
C
A
C
A
G
G
G
C
A
A
A
A
T
T
T
C
A
G
T
A
A
A
T
A
T
A
T
C
T
T
4300
A
T
T
A
T
C
A
T
A
A
A
A
A
C
T
G
A
A
C
T
C
C
T
C
T
C
A
T
T
T
T
C
T
G
C
C
A
T
C
T
C
C
T
A
C
T
A
G
G
C
4350
A
T
G
T
G
G
G
G
A
A
G
G
G
G
A
A
T
T
C
A
G
A
T
G
A
T
G
G
T
T
G
G
A
A
A
T
C
T
G
G
A
A
A
T
T
C
T
T
T
C
4400
C
T
C
T
C
T
T
T
T
G
T
A
A
T
T
T
G
C
C
T
G
T
A
A
G
T
G
G
A
T
C
C
A
A
A
T
T
A
A
T
T
G
T
A
A
T
G
C
A
G
4450
G
A
T
A
A
C
T
G
T
C
A
G
A
T
G
C
T
T
T
A
A
A
G
G
A
T
T
T
A
A
T
T
G
C
T
G
A
T
A
A
A
T
T
A
A
T
T
C
C
A
4500
T
T
G
T
T
A
C
T
A
A
A
A
A
C
T
T
C
C
T
G
C
T
T
T
T
A
C
C
A
G
A
C
T
C
T
T
A
A
A
A
T
G
T
C
A
C
A
A
T
G
4550
T
T
G
G
C
A
G
A
A
G
C
C
T
G
G
A
A
T
A
A
T
T
C
T
G
C
C
A
G
G
T
G
G
G
G
T
G
G
T
G
G
G
T
G
C
C
C
T
C
C
4600
A
A
G
C
T
T
G
T
T
G
G
G
C
C
A
C
T
T
G
A
A
T
T
A
G
T
C
G
A
T
C
A
C
T
A
T
G
C
C
C
T
T
T
T
G
G
G
T
T
A
4650
A
A
A
C
A
C
T
T
T
T
T
T
T
T
C
C
T
A
T
G
T
A
A
T
A
G
C
G
T
A
T
G
T
A
G
T
T
C
T
C
G
C
T
A
T
T
C
A
A
A
4700
T
T
A
G
A
T
A
C
T
C
T
T
G
T
G
A
T
A
T
A
C
A
C
T
T
A
G
T
A
A
T
C
C
A
G
T
T
T
A
T
A
T
T
T
G
T
A
A
G
T
4750
T
T
T
T
A
A
A
T
A
A
A
A
T
A
A
T
T
T
T
T
A
A
A
A
A
T
C
A
C
T
C
A
A
A
A
G
C
A
T
G
T
A
T
A
G
A
C
T
C
A
4800
C
T
T
C
C
A
T
T
A
T
T
G
T
A
T
A
A
A
T
C
A
C
A
T
G
A
A
A
A
G
T
A
A
A
A
A
T
A
A
G
A
G
A
A
C
A
G
T
C
T
4850
A
T
G
G
T
T
G
T
G
A
A
T
A
A
C
A
T
A
T
A
A
A
C
T
T
G
A
C
C
T
C
A
A
C
T
G
T
A
C
A
C
A
T
A
A
C
A
A
C
T
4900
G
A
G
A
A
C
T
C
A
T
A
T
A
A
A
G
G
C
C
T
C
C
C
C
C
A
T
T
T
A
C
T
T
A
C
A
A
A
C
C
G
T
A
T
A
A
C
C
T
T
4950 |
REPEAT
A
G
C
C
A
A
G
T
T
A
G
C
C
T
T
T
T
A
C
C
A
C
T
T
G
C
A
A
A
G
T
A
C
G
A
A
T
A
A
T
G
A
T
A
G
T
A
C
C
A
5000
G
C
A
T
C
A
T
T
G
G
C
T
T
A
T
T
G
T
A
A
A
A
A
T
T
A
A
C
A
A
G
A
G
C
T
G
T
A
T
G
T
A
A
A
G
T
G
C
T
G
5050
A
T
A
C
A
G
C
C
T
C
T
G
A
T
A
T
G
T
G
G
C
A
A
G
T
A
C
T
T
A
A
T
TACCATTA TTGTTTGAAG
5100
ATGATGATTT GCTCTTAAAG GACCATCATC ACTATTTCCA TTTCCAAATG
5150
CACTTCCCAG CTCACTCATA TTCTATCCTT TCCGTTATCC GTTTACTAGT
5200
ATAACATAGT ATTTCTAAGA TCACTCCCTT TAAACTAATT TAGTGAGAT
T
5250 |
REPEAT
A
A
T
A
A
A
T
C
T
T
A
A
C
A
T
G
T
A
T
T
G
A
G
T
A
C
T
A
A
G
A
G
T
G
C
T
A
G
A
C
C
T
T
T
T
C
A
T
A
T
5300
A
T
A
T
G
T
T
C
T
T
A
T
T
T
A
A
T
C
T
T
T
A
C
C
A
G
A
G
C
C
T
G
G
T
A
A
A
G
A
A
G
G
T
G
A
T
T
A
T
T
5350 |
var(5343):[C:0.34]
T
T
C
A
C
A
G
T
A
A
G
T
T
A
T
T
T
T
A
G
C
C
T
C
A
G
A
A
A
G
A
C
T
T
A
G
T
G
A
C
T
T
T
A
C
C
A
C
G
G
5400
T
C
A
C
T
C
A
G
C
C
A
G
C
A
G
A
T
G
C
C
A
C
A
G
C
T
G
G
A
A
T
T
C
A
A
TCACT GCTTTTTTCT
5450
TCATTGAGCA AAAAATATTG ACCCCATTTA CAT
G
TTCTGG TCAACATGAT
5500 |
var(5484):[T:0.24]
TAAAAGTCTT CCTTGGCTGC AGTAGCTAAG AGAAAGTGCT GCTATCACCT
5550
TAACTTTCTA AATGTAAACT AAACCTCCAG CTTCTCAGGT CTTAATTCCA
5600
AACTACTTGG AAATTATGCT GAAGTTATGG TGGGTCACAA GTACATTTTG
5650
ACTTATTAGT AT
C
ATTTTTA AGTGAGGAAA TATATGTATT TTAAATGGAA
5700 |
var(5663):[:0.02]
TCTCTCAAGT GAGAGAAAAA AATCAAAAGT AAAAGAAAAT ATGTCATATA
5750
AAGACATTGA GCCTTATCTT TTCCTTTTTC AACAG
A
T
A
T
G
T
C
A
T
T
T
C
A
G
C
5800 | Exon 2
Y V I S A 27
A
C
C
A
A
A
A
A
T
A
T
T
C
C
G
T
G
T
T
G
G
A
G
C
A
T
C
T
G
A
A
A
A
T
A
T
T
G
T
G
A
T
T
C
A
A
G
T
T
T
5850
P K I F R V G A S E N I V I Q V 43
A
T
G
G
A
T
A
C
A
C
T
G
A
A
G
C
A
T
T
T
G
A
T
G
C
A
A
C
A
A
T
C
T
C
T
A
T
T
A
A
A
A
G
T
T
A
T
C
C
T
5900
Y G Y T E A F D A T I S I K S Y P 60
G
A
T
A
A
A
A
A
A
T
T
T
A
G
T
T
A
C
T
C
C
T
C
A
G
G
C
C
A
T
G
T
T
C
A
T
T
T
A
T
C
C
T
C
A
G
A
G
A
A
5950
D K K F S Y S S G H V H L S S E N 77
T
A
A
A
T
T
C
C
A
A
A
A
C
T
C
T
G
C
A
A
T
C
T
T
A
A
C
A
GT ATGTATTTAT CCTTTATTTT
6000
K F Q N S A I L T 86
CTTTATATAT ATATACAGAA TATTCTCAAT AAAAATGTGT ACAAAGTTTG
6050
AATATTGATA ACATATAGAT TTAATCATTT ACATCCACTG TGGGATTATT
6100
AGATGATGTC AGTCACTAAT GATAATGTAA GTGAAAATTC TAACAGAAAC
6150
AGAAAATTCT AAACAGAAGT TATGTCTGCT TTTT
G
AGCAA TGCATGT
C
CA
6200 |
var(6185):[T:0.05]
|
var(6198):[G:0.02]
TTTTCACATT CTTATTGGAA AATAAA
G
TTG TACTAATGTG AAAATATTTG
6250 |
var(6227):[A:0.34]
GAGATAATTG AAAATACTTG TTTGCTATGA AAATTACTAT TAGAAAGAAA
6300
TTGAGAAATA TGAGTATGAT TTTATCTGTA GTACATTGCC CACAAAAATC
6350
CATGGATATT ATTGAACATT CGATTGAACT CTAATATTCT ACAATTATAG
6400
TTTCAAAAAC TAAAAAATTT GTGATTACTA AAGTGAATAG CTCTCATTGA
6450
CAACCTGCAG TTAATAGAAA GAACAACCTT GATCAAATAA CTCTCCTATT
6500
AAGATATTGT AGTATAGATT GCTTAGAGAC ATACTTGCAA CTTATTTTTA
6550
CTAAAAATTC TGATACTTAA TAAAG
A
A
A
A
T
C
A
A
A
G
A
A
T
A
T
C
A
G
A
C
G
T
A
A
A
6600 |
REPEAT
A
T
G
G
G
C
T
C
T
G
C
A
G
T
T
C
A
T
T
T
A
G
A
C
C
A
G
A
G
T
T
T
C
T
C
T
A
A
A
G
T
G
A
G
T
T
C
T
T
T
6650
A
T
A
AAGAAAT TAAAAATGGA AATTTAATAA AGAGCTTAAA ATTCGAATTA
6700
TATTGATTTT GTAACATTTT GAATTTATTT TATAAATTTG TTTTGAGTTT
6750
TTAATTATAC AAAAATCATA AGCATAAGAT TGTACCGTTT TAAGTTTGTA
6800
TATATTTAAG TATCTTTGTA TCAAAAATTA TTTTGATTAT GTTATAAATA
6850
ATAAAAAGCC AATGCTGAGG GTCCTCCATG ACTTTTGTCC TTTAAAAGGA
6900
CTATGCAT
A
T TACTCAAGTT TAAGAAACAC TAATCTAAAA AATTTCTAGT
6950 |
var(6909):[G:0.01]
CAAACATAGG AATTCTTTAA TGTTCTTAGC AGTAAATGCT CATATCTCTT
7000
AACAAATTCT TCCACTTATT AGGTTTGTTA ACAATTAAAA TTCATTTATT
7050
AAAAGTGTTA CTTT
T
A
T
G
G
C
A
T
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
A
7100 |
var(7065):[C:0.01]
|
REPEAT
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
A
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
7150
A
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
7200
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
GTGTTA CTTTCAAAAG ACACTCTTTT
7250 |
var(7222):[G:0.07]
ATCTGATACA ATGTATTTGT GGCTCTTAGT
T
T
T
A
A
A
T
T
T
A
A
A
T
C
A
A
A
C
A
A
7300 |
REPEAT
A
T
T
T
A
A
C
T
G
A
A
A
T
T
A
A
A
A
A
T
G
C
A
G
T
A
T
C
T
C
A
G
T
T
G
C
A
C
T
A
G
C
A
A
C
A
T
T
T
C
7350
A
A
G
T
G
T
T
C
A
A
A
T
A
G
C
C
C
C
A
G
G
T
A
G
C
T
A
T
T
G
G
C
T
A
C
C
A
T
A
G
T
A
A
A
C
A
G
C
A
T
7400 |
var(7388):[C:0.01]
A
G
A
T
A
T
A
G
A
A
T
A
T
T
T
C
T
G
T
C
A
T
C
A
C
A
G
A
A
A
G
T
T
C
T
C
T
G
A
A
C
A
G
T
G
C
T
G
AC
7450 |
var(7426):[G:0.03]
CTATATGATT AACTGAAAAA CTAGATTAAG GTGGGGCAAT CATAGTCAAT
7500
ACATATTTTA ACCATTTAAT TTTATCATAG CAATATCATG TATCTTTATT
7550
TGCCAATTGT TTAATGTTGT ACCAAGGTCT TTTAAGTGTG GGTCTATGGA
7600
TTGCAGTGTC AAATCTCATT TATTACGTGC TACAAATTTA ATGGATCATC
7650
TTTGTTCTAT AG
T
T
T
C
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
A
G
A
C
A
G
7700 |
REPEAT
G
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
A
G
A
C
A
G
T
G
G
T
G
T
A
A
T
A
T
C
G
G
C
T
C
A
7750 |
var(7711):[G:0.16]
|
var(7744):[T:0.02]
C
T
G
C
A
G
C
C
T
T
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
T
C
7800 |
var(7793):[G:0.02]
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
A
C
A
G
G
C
G
T
G
C
A
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
C
7850
A
T
T
T
T
T
A
A
T
A
A
A
G
A
A
G
G
T
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
A
C
7900
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
G
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
7950 |
var(7929):[A:0.02]
A
C
A
G
G
C
A
T
A
G
G
T
T
A
C
T
G
T
G
C
C
C
A
G
C
C
TGTT CTATAGTTTC TGTTTCTTAA
8000
AAGGGGAGAA AGAACTTAAA GGCACTTACA AAGCAATCTG GGTGCAGAAT
8050
ATTTATAGAT TTTTCTTGTT TTCCAAACTT TTACAATAAT TTCGCATAGC
8100
TAATTCTACA GCAGTTGGTT TTTGTAATTA ACTTTCATCC CGTGTTTCCA
8150
AAGCCTAATT TTTCATAGAT ACACTTTTCT TTTTTATCAC TTTTCATGCA
8200
TTAAATTTAC ATATCATTGA ATGTAAAGGG GATAATTACA AACATAAATT
8250
GGAAAATGAG CATCTCAACT CAGGGGAGCA GAAATATGTG AGGTAATACT
8300
AAGGGTCCAG AGATGCTGGA CACAT
G
G
G
C
A
C
G
G
T
G
A
C
T
G
A
T
G
C
C
T
G
T
A
A
T
8350 |
REPEAT
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
A
G
C
C
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
G
T
T
8400
C
A
G
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
G
T
C
T
C
T
A
T
T
A
A
A
A
A
T
A
C
A
A
8450
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
T
T
A
G
C
T
G
G
A
C
A
T
G
G
T
G
G
C
G
C
A
C
A
C
C
T
G
T
A
A
T
8500
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
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
T
C
T
G
G
G
A
G
G
C
8550
A
G
A
G
G
T
T
G
T
C
G
T
G
A
G
C
T
G
A
G
A
T
G
G
C
A
C
C
A
C
T
G
C
T
T
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
8600
A
G
A
G
T
A
A
G
T
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
GCTAAGG GTCCAGAGAA
8650
TCGGTCAGGA GGTTTCACAA AGGGAATGGG GAGCATGGGG TAACCCAGCA
8700
AACTAATTGA GTGAAGGTTT CTTAAAGGCT TTTATAGTAG TAGTTTCACT
8750
AAATGTATAT AAAATTTAGG AAACATGGAA CCAAAGAGAC TTTCAATTGC
8800
TTAAAGCTAA ATTTTTATTA TGTAATTAGA CACTGAAGGG CTTCGGGCAA
8850
AATTTATTTA CTCTTCTTGC TCCTGTATCA CTTTTTAAAT GATTACAT
A
T
8900 |
var(8899):[G:0.01]
ACATACTGAT TGTTCTAATG AGATTACAGT TGTATTTAGA AAGTTAATGG
8950
TTTAATAACT TTAGAATTAT TATACTTTTT CCATCAACAA TTTCTTTTCC
9000
AG
A
T
A
C
A
A
C
C
A
A
A
A
C
A
A
T
T
G
C
C
T
G
G
A
G
G
A
C
A
A
A
A
C
C
C
A
G
T
T
T
C
T
T
A
T
G
T
G
9050 | Exon 3
I Q P K Q L P G G Q N P V S Y V 102
T
A
T
T
T
G
G
A
A
G
T
T
G
T
A
T
C
A
A
A
G
C
A
T
T
T
T
T
C
A
A
A
A
T
C
A
A
A
A
A
G
A
A
T
G
C
C
A
A
T
9100
Y L E V V S K H F S K S K R M P I 119
A
A
C
C
T
A
T
G
A
C
A
A
T
G
G
A
T
T
T
C
T
C
T
T
C
A
T
T
C
A
T
A
C
A
G
A
C
A
A
A
C
C
T
G
T
T
T
A
T
A
9150
T Y D N G F L F I H T D K P V Y 135
C
T
C
C
A
G
A
C
C
A
G
T
C
A
G
GTAGA TTATAAGATA TTTCTTCCTC TGGGTGGGGG
9200
T P D Q S 140
ATTTGACAGT ATTGACACTA TATTGTAGAG CTTTTTAATA CCTGAAATTG
9250
AGTGGAGATC GGTTTCTTTT TAATTTGCTC AAAAGACTCT CAATTCCCAA
9300
AGACATCTAT ACTTACAAAT ATTTAATAGC ATTTTAATTT TAAATTTATG
9350
GAGAAAGTGC TAAATAAATT ACAAAACCAA CAATTACATT ACCTGCCCCA
9400
TCACTTATTT CCAAGTAGAA AATGCTTTTT CAAAATTGTA AAATGTTGAA
9450
TGTTATGTAA AAATGTAAAA TGTTATGTTG TTACAAAAAC CAACTGCTGT
9500
AGAATTAGCT ATGCGAAATT ATTGTAAAAG TTTGGAAAAC AAGAAAAATT
9550
TGTTTTCCAA TATGTTACAA TTTATTAAAC AAATATAAGA CTTAATTGCA
9600
AATATAATTT GGCAATGGGA AAATATAATT TATTGTAGAA CCATGTTCAT
9650
TAAAAATTCC ACTGGGTCTG
G
AGCTAATCC CCAAACTGGA AAAATAAATC
9700 |
var(9671):[A:0.03]
TAACCTAGGG GATCAGATAT TTCAGCAGAG GATAAACTAG ATCACAGAAA
9750
TATATGGATA TTAATTTTCA AAGGGGATCT ACCTAAGAAA GTTACTGTTA
9800
GAACATTGTT TAACATTCAT GGTTCTTCTG TTAGAGGCAA AAGGGCAGAA
9850
TAGCCAATCA AAATCATGTG AATAGGAATG ACTGGACCT
A
T
T
C
C
C
A
A
T
G
A
9900 |
NOT SCANNED
A
C
C
A
A
A
A
G
T
A
A
A
A
C
A
C
A
G
A
A
A
A
G
T
A
T
G
A
A
T
G
C
T
T
C
C
C
A
A
T
A
T
A
T
T
C
A
T
G
T
9950
G
T
T
T
G
C
A
A
A
G
C
C
T
T
C
C
A
T
T
C
C
C
C
C
G
T
T
T
C
T
C
C
C
T
C
T
C
G
T
C
A
T
C
A
A
T
G
A
C
T
10000
T
T
T
A
A
G
T
A
C
A
T
C
A
G
A
A
A
T
A
G
A
A
T
A
T
T
A
G
A
G
A
T
G
T
A
T
A
T
A
T
G
G
G
A
A
G
G
A
G
A
10050
G
G
C
T
A
T
G
G
A
A
T
T
T
C
A
T
T
A
A
T
G
A
T
A
T
T
C
T
T
G
G
A
G
G
A
G
G
A
C
A
G
A
G
A
A
A
G
G
A
A
10100
G
T
G
G
G
G
A
C
C
A
T
C
T
G
A
C
T
T
T
G
T
T
G
A
A
A
A
A
C
T
T
T
G
T
A
C
A
C
A
G
T
A
G
A
T
A
T
T
T
G
10150
C
T
A
A
A
T
G
T
T
G
G
T
T
G
A
T
G
T
T
G
A
T
G
A
T
G
A
G
A
A
T
A
G
T
G
G
G
G
T
G
G
A
A
C
T
G
G
A
C
T
10200
G
A
A
C
C
A
T
T
A
C
C
G
T
T
T
C
A
G
C
A
G
G
A
G
C
A
T
T
T
G
T
T
A
T
G
A
T
C
A
G
C
T
C
A
G
A
A
A
G
G
10250
A
A
A
A
G
C
C
T
A
A
A
G
G
G
G
G
T
G
G
A
G
A
T
A
T
T
G
C
T
A
T
C
T
A
C
T
T
G
G
C
C
A
G
A
A
T
A
A
A
A
10300
T
C
T
C
C
A
G
A
A
T
A
A
T
A
G
C
A
T
C
T
T
T
T
T
T
C
T
C
C
A
A
G
A
G
A
C
A
A
C
T
T
T
T
T
A
T
A
C
A
A
10350
G
G
A
A
A
T
A
G
T
C
T
C
T
G
C
C
C
A
C
A
A
A
G
G
T
T
G
G
G
T
C
C
T
T
T
T
A
G
A
C
A
T
A
A
T
C
A
T
A
C
10400
C
T
A
G
A
A
A
C
A
A
G
C
A
T
A
T
C
A
T
C
T
C
T
C
T
T
G
T
C
C
T
C
C
T
C
C
T
A
C
A
T
T
G
A
A
G
G
A
T
T
10450
C
T
T
T
T
T
T
G
C
T
T
G
G
A
T
C
C
T
G
T
T
G
A
C
A
C
G
T
C
C
C
A
C
A
A
C
T
A
A
G
G
G
T
C
A
T
C
A
G
T
10500
C
T
T
T
G
T
C
C
A
G
T
A
A
G
C
A
G
T
G
T
A
A
T
A
T
C
C
A
G
A
G
G
C
T
G
G
G
A
C
C
T
T
C
C
T
C
G
G
T
T
10550
A
T
C
A
A
G
G
C
T
T
T
C
C
T
T
A
A
G
A
A
T
G
G
C
T
T
C
A
T
G
T
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
10600 |
REPEAT
C
A
T
T
T
T
G
G
G
A
G
T
C
C
G
A
G
G
T
G
G
G
G
G
G
A
T
C
A
C
A
A
G
G
T
C
A
G
G
A
G
T
T
T
A
A
G
A
C
C
10650
A
G
C
C
T
G
G
C
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
A
C
T
A
C
A
A
A
A
A
T
T
A
10700
G
C
C
A
G
G
C
A
C
T
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
T
G
G
A
G
G
C
T
G
A
G
10750
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
T
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
10800
C
A
A
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
A
A
G
A
G
T
G
A
G
A
C
T
T
C
G
T
C
T
C
A
G
C
A
10850
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
C
T
T
C
A
T
G
T
A
T
T
A
T
T
T
C
T
C
T
A
T
C
A
G
G
A
C
10900
T
T
T
A
C
T
G
T
A
A
G
A
T
G
A
T
G
T
A
A
T
A
C
C
T
G
G
C
C
A
G
G
C
A
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
10950 |
REPEAT
T
A
A
T
C
C
C
A
G
T
A
C
T
T
T
G
G
G
A
A
G
C
C
C
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
11000
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
T
T
C
C
A
C
T
A
A
A
A
A
11050
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
A
T
G
T
G
G
T
G
G
T
G
C
A
C
G
C
C
T
G
T
A
A
T
T
C
C
A
G
C
T
A
C
T
C
11100
G
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
A
T
G
G
C
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
11150
T
G
A
G
A
T
C
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
C
A
G
A
G
C
A
A
G
A
C
T
G
T
C
T
C
11200
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
G
A
A
A
A
A
A
A
A
A
G
A
A
G
A
C
G
A
T
G
T
A
A
T
A
T
C
C
T
C
A
T
11250
C
C
A
T
T
C
T
A
A
T
C
G
T
A
G
A
G
T
A
A
A
A
T
G
A
G
A
G
A
A
G
T
T
T
G
C
T
A
T
A
A
A
T
A
T
T
G
G
C
C
11300
C
A
T
T
T
C
T
G
C
A
A
G
A
T
A
G
T
G
A
A
G
T
A
A
A
T
T
G
G
T
T
A
A
A
A
G
C
A
G
A
C
T
C
T
G
G
A
G
T
C
11350 |
REPEAT
A
G
A
T
T
G
T
C
T
G
G
G
T
T
C
A
A
G
T
C
A
C
A
G
C
T
T
G
A
G
C
T
G
C
T
G
T
G
A
G
C
T
G
T
A
T
G
A
C
C
11400
C
T
G
T
G
T
G
A
A
T
C
A
C
T
C
A
G
C
C
T
C
T
C
A
G
A
C
T
C
C
C
A
C
T
T
T
C
C
T
C
A
C
T
T
G
T
A
A
A
A
11450
T
A
G
A
G
A
T
A
A
T
A
A
T
A
C
A
A
C
T
T
A
C
C
T
C
A
T
A
G
A
G
T
T
G
T
G
A
G
A
A
T
T
A
A
C
T
G
A
A
T
11500
T
A
G
T
A
T
G
T
G
T
A
A
A
G
C
A
C
T
T
A
A
G
A
T
A
G
A
G
C
C
A
A
G
C
A
C
A
C
A
G
T
A
A
G
C
A
C
T
A
G
11550
G
A
A
A
G
T
G
T
T
T
T
C
C
A
T
T
A
T
T
A
T
C
T
A
T
G
G
A
A
T
A
G
C
A
C
A
A
A
G
C
C
A
T
A
T
T
T
A
C
A
11600
G
A
A
A
A
G
A
A
A
A
A
T
A
A
T
T
A
C
T
T
A
A
A
A
G
T
A
T
T
T
T
T
T
A
A
T
C
G
T
C
T
T
G
T
T
A
T
T
T
A
11650
T
A
G
C
T
A
T
A
A
T
G
T
C
C
C
G
A
T
C
A
A
C
A
C
A
T
T
T
A
A
T
C
T
G
A
A
G
A
T
T
C
T
T
G
A
G
G
G
A
T
11700
T
T
T
T
A
G
T
G
T
A
A
G
C
A
T
C
T
T
T
A
G
G
A
T
A
A
A
G
G
C
T
T
C
A
A
G
G
C
T
T
T
A
C
T
G
G
A
T
A
A
11750
A
T
G
A
C
T
T
T
A
G
A
A
T
A
T
T
G
C
C
C
A
A
A
A
T
C
C
T
T
C
A
A
T
T
T
C
A
T
A
A
A
G
C
C
T
G
T
G
T
C
11800 |
REPEAT
C
T
G
C
C
T
T
C
T
T
C
C
C
C
A
G
C
T
T
C
A
T
C
A
C
C
T
A
C
T
A
C
G
G
C
C
C
C
A
C
C
C
T
C
T
A
T
A
G
A
11850
C
A
C
A
A
G
C
C
A
A
A
C
T
G
A
C
C
T
C
C
T
T
T
C
A
G
A
T
G
C
T
T
T
C
T
C
A
C
A
C
C
G
T
T
T
C
C
C
C
A
11900
T
C
C
A
T
A
T
T
A
A
G
G
C
C
T
G
T
G
T
A
A
C
A
T
G
C
T
G
T
T
G
C
C
T
C
T
A
C
A
T
G
G
T
A
C
A
T
T
C
T
11950
T
G
C
C
C
C
T
C
C
T
T
T
G
C
C
T
T
G
T
T
A
A
C
T
C
C
T
A
C
T
T
C
A
C
C
C
T
C
A
C
G
T
G
T
C
A
T
C
A
C
12000
A
G
A
T
C
C
T
T
C
T
A
A
A
G
G
C
A
G
C
T
T
T
C
G
C
T
G
A
T
T
T
C
C
C
T
G
A
C
C
T
C
T
T
C
A
A
A
T
C
T
12050
C
C
C
T
C
T
T
C
T
A
C
A
T
G
C
T
C
A
T
A
A
G
G
C
C
A
G
G
C
A
A
A
T
A
T
C
C
T
T
T
G
T
G
G
C
A
C
T
T
C
12100
A
C
A
C
C
C
T
A
G
A
A
T
T
T
T
A
C
A
T
A
T
A
A
T
T
G
T
G
T
T
T
G
C
C
T
C
T
T
T
C
C
T
C
C
A
C
A
C
C
A
12150
T
T
A
A
A
A
G
A
T
G
T
C
C
A
T
G
T
C
T
G
A
T
T
T
G
T
T
T
C
A
C
T
A
C
T
G
T
A
T
C
T
C
A
G
T
A
C
G
T
A
12200
G
C
A
T
A
A
T
G
A
C
T
G
G
C
A
C
A
T
T
A
G
A
A
G
G
C
A
T
T
C
A
A
G
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
12250 |
REPEAT
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
G
A
G
G
C
A
G
G
C
G
G
A
T
C
A
C
A
A
G
G
12300
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
C
A
C
A
C
G
G
G
A
T
G
T
G
A
G
C
T
A
A
T
A
C
A
A
A
12350
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
T
G
G
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
12400
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
A
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
T
T
T
G
C
A
G
T
G
A
A
C
12450
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
C
A
T
T
C
A
A
A
C
T
T
T
T
T
T
T
A
A
A
T
T
12500 |
REPEAT
A
A
T
A
A
A
C
C
A
C
A
T
C
T
T
T
T
A
T
T
T
T
T
A
T
T
T
T
T
A
T
T
T
A
G
T
G
A
G
T
G
T
C
T
C
G
C
T
C
T
12550 |
REPEAT
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
G
G
C
A
G
T
G
G
T
G
C
A
A
T
C
T
T
G
T
C
T
C
A
T
T
G
C
A
A
T
C
T
C
C
12600
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
A
G
C
C
T
C
A
G
C
A
T
C
C
C
A
A
G
T
A
A
G
T
G
G
G
12650
A
T
T
C
A
G
G
C
G
C
G
T
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
G
T
A
T
A
T
T
T
A
G
T
A
G
A
G
A
12700
T
G
G
G
A
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
G
C
T
T
G
A
A
C
T
C
T
T
G
G
C
C
T
C
A
A
G
T
12750
G
A
T
C
C
A
C
T
T
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
C
C
A
G
G
T
G
T
A
A
G
C
C
A
12800
C
T
G
C
A
C
C
C
G
G
C
C
A
A
T
A
A
G
C
C
A
T
A
T
C
T
T
T
T
A
T
A
C
A
A
A
A
A
A
T
T
G
T
A
T
A
G
A
T
C
12850
T
T
G
C
C
T
C
C
A
A
T
G
T
A
C
C
A
T
C
G
C
T
G
T
G
A
A
G
A
C
A
A
G
A
T
T
A
A
T
T
T
T
C
T
A
A
C
C
T
A
12900
A
A
C
A
C
A
A
A
C
T
G
G
G
T
T
A
A
A
A
A
C
T
A
G
C
C
A
A
A
T
A
G
T
A
G
T
A
A
C
A
G
A
A
A
T
A
A
T
A
A
12950 |
REPEAT
T
A
A
A
A
T
A
A
A
C
A
T
T
T
A
T
T
G
A
T
T
A
C
T
T
A
G
T
A
T
G
T
G
T
C
A
G
G
C
T
A
T
G
C
A
A
A
A
G
C
13000
T
T
T
G
C
A
T
T
A
T
T
T
A
A
T
T
C
T
C
A
C
A
A
G
G
A
C
A
C
T
A
T
G
A
G
C
A
C
A
C
A
C
T
A
G
T
A
T
T
C
13050
C
T
G
T
T
T
T
A
C
A
A
G
T
G
A
G
T
T
A
A
C
T
A
A
G
G
T
T
T
A
G
A
G
G
G
A
T
T
A
A
G
T
A
T
C
C
T
G
C
T
13100
C
A
G
G
G
T
C
A
T
A
C
T
A
A
A
A
A
G
T
G
G
C
A
G
A
G
G
C
A
G
G
A
G
T
G
A
A
A
C
C
A
A
A
G
T
G
T
T
T
A
13150
A
T
T
C
C
A
G
G
G
C
C
T
G
T
G
C
T
C
T
T
A
A
C
T
T
T
T
G
T
G
A
C
T
T
T
C
T
G
A
C
T
T
G
G
G
C
A
G
C
T
13200
T
C
C
C
A
G
T
G
A
T
A
C
T
C
A
G
G
C
C
T
A
G
A
C
T
G
G
G
T
G
T
G
T
C
C
C
A
A
A
A
A
G
C
A
G
G
A
G
A
T
13250
A
G
G
A
T
T
T
G
T
G
G
T
G
G
G
A
G
A
C
A
G
G
T
G
T
G
A
G
G
G
G
A
A
G
G
A
G
A
G
A
G
C
A
G
A
G
A
G
G
T
13300
G
G
G
G
C
A
T
T
T
A
C
T
G
A
G
C
A
C
A
T
T
G
T
T
T
T
T
A
T
C
T
T
G
T
G
A
A
C
T
T
A
G
T
A
A
A
A
C
C
A
13350
G
T
G
T
T
A
A
T
G
T
G
G
C
T
T
C
T
T
A
T
A
T
A
G
A
G
C
T
T
T
G
C
A
T
A
A
T
A
C
T
G
A
T
C
T
T
T
T
A
A
13400
A
A
G
ATACTGG GTTTATGGTG CCAGTTCTAT TTTATTTTGT GGGTAAAGTT
13450
TTGGCCATGA AATGATTTGA GCATCAGCAA CACCCTAGAG AAATTAAGTT
13500
TGTCATTGGA AAGAATTAGA TCACTGTGTC TCAAACAGCT GTGAGTTAAA
13550
AGCGAAACAG ATGCTTTTGT TTAAAAAGTA GGGATCTATT AACTGACAGA
13600
AAGAAATGGA AGAGAACTAA CAGTTATTGA GCCCCTGCCA TTGCTCTTTT
13650
AACAATGAGC GAACAAGTGT AGGATCTGGC TCAATAAATA GAACAAAACC
13700
ATATAATCCA AAGCTGCCTT TTGCAATAAG AGCTAATTTG GAGCCTTGTG
13750
GGTTTTCATA AGTGGAAGAG TGTATGTCTG AATCAAGCTC CCAATTTTCC
13800
ATTAAGAT
C
T TCAACTCTGA GACAATATAT TATGCTCCTC TATAACCATA
13850 |
var(13809):[T:0.02]
TGGTGATGTC ACTATTTTGC TACTATGAAA TTCTTAATAA ATAATGGCCT
13900
AATTACAGAT GTAATTAATT TCATACTGTG AATGTTTTCT CAAAACATTG
13950
TAGGTAAAT
G
TATTTTAAGA AAGTGAACTG TACTTTAAAT CCACTAAGAG
14000 |
var(13960):[C:0.01]
AAATAGTTCT TTAAAGGAAT CCCTGAGGAT TCTCTTAAAT AAGAGA
A
TCT
14050 |
var(14047):[G:0.01]
TTAGTAATGT ATATGTCTGC AAACTAATTT TTGTTTTTTT CAAATATGGA
14100
CTTTTGTGTA TTGAGTTTTT TAAAGTAAGA TTCATCTCTT TTAAGGATGG
14150
TTGTTTTAAA AAATCAAAAT ATCCTTGTTT TTAGCAGAGT TTTTGATTAT
14200
ATCAATTATT CTTACAG
T
A
A
A
A
G
T
T
A
G
A
G
T
T
T
A
T
T
C
G
T
T
G
A
A
T
G
A
C
G
A
C
T
14250 | Exon 4 |
var(14229):[A:0.18]
V K V R V Y S L N D D 151
T
G
A
A
G
C
C
A
G
C
C
A
A
A
A
G
A
G
A
A
A
C
T
G
T
C
T
T
A
A
C
T
T
T
C
A
T
A
GT AAGTATTTTA
14300
L K P A K R E T V L T F I 164
TTTATTTAAA TAATACTTTA ATTCATTTTT CAGGACAAGA A
T
CTCATTTC
14350 |
var(14342):[A:0.01]
AT
A
ACCCTGT CCTCACACTA CACTAAATCA TTCAATGTTC CATAAATGGT
14400 |
var(14353):[T:0.23]
TATTGAACAT CTGCAATGAG TATAGAATCA TAGATCTATA CCTCTGTAAT
14450
ACACGTATGT GAAAGGCTCA TACAAATTAA ATTTCAATAA CTTGAAGGAT
14500
TTTGAGCTAA ACCATTTAAG TACAATCTTG CTGATTTATT TTTTAAAGAA
14550
CACCCACT
G
G
C
C
G
G
G
C
G
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
C
T
T
T
G
G
14600 |
REPEAT
G
A
G
G
C
C
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
T
A
A
C
C
T
G
G
C
14650 |
var(14615):[G:0.02]
C
A
A
C
A
T
A
G
T
G
A
A
A
C
C
T
C
A
T
C
T
C
T
A
C
T
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
G
G
T
G
C
14700 |
var(14673):[C:0.02]
|
var(14683):[A:0.03]
A
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
T
G
14750 |
var(14729):[:0.43]
G
G
G
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
T
14800 |
var(14769):[A:0.18]
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
T
G
A
C
A
G
T
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
G
A
14850
A
A
A
T
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
CCAAAAAA CAAAAAACCA CCCACCAATC
14900
ACTAAGAATT GACTGAATAC CCATTTAACT ATAAGAT
A
TA CATAATGGAT
14950 |
var(14938):[G:0.01]
ATATCTATTA TGTATTTATT ATGTGCAAAA GAACTATATT TAATGGTACT
15000
TACTCTTAAG GAACTTAGAG TTTAATAACT ATTATACTAA CACAAAAAAT
15050
CTTGCTAAAT CATGAGTTAA AGATTGGCAG TAATTCACCA TTTATCAGAC
15100
ATGACATATG TAACAGACGC TGTGCATTGA ACTCCCATGA TCTCATCTAA
15150
TTTGTGTCAC
A
T
A
C
C
C
C
A
A
A
C
A
C
T
T
T
T
G
T
G
A
G
G
A
A
A
T
A
A
A
A
T
A
A
T
A
C
A
A
C
15200 |
NOT SCANNED
T
A
G
T
T
A
T
A
A
C
T
G
C
T
C
A
G
T
T
A
T
T
A
A
C
A
G
T
A
G
G
T
A
T
A
C
T
A
C
T
A
A
T
G
G
T
C
C
T
T
15250
C
A
A
T
A
T
A
G
G
C
T
G
C
A
G
C
A
C
T
T
T
T
G
C
T
G
C
T
A
C
T
C
A
A
A
A
A
A
A
A
A
A
C
C
A
A
A
A
A
A
15300
T
A
A
A
A
A
T
A
A
A
A
A
C
T
T
A
T
C
A
G
A
A
T
G
C
A
G
G
T
G
C
A
A
A
A
G
C
A
T
A
G
A
T
A
C
T
A
C
A
G
15350
A
A
C
A
A
A
A
C
C
A
T
A
C
T
A
A
A
A
T
A
T
A
A
A
A
C
A
A
A
T
A
A
A
T
T
A
T
A
C
A
G
T
A
G
G
A
C
A
A
A
15400
T
A
C
C
A
T
G
A
G
C
T
C
A
G
A
G
G
G
A
A
G
A
C
C
A
A
T
G
A
G
A
G
G
T
G
A
G
A
G
T
G
G
G
G
G
T
G
A
T
A
15450
C
A
C
A
T
C
C
T
T
C
T
C
T
G
G
A
A
C
G
G
A
G
T
A
G
T
T
A
A
A
G
G
G
A
A
C
C
C
T
G
A
G
T
T
G
G
G
T
G
T
15500
T
A
A
T
G
A
A
A
G
G
A
A
T
T
G
A
C
A
T
A
A
A
T
T
A
T
T
T
A
A
A
A
A
T
A
G
T
G
A
A
G
A
C
C
A
T
C
C
A
T
15550
G
T
A
A
G
A
A
A
C
A
G
T
G
T
G
A
G
T
T
A
A
G
C
T
A
T
G
G
G
G
G
C
A
A
G
A
A
G
A
A
A
T
A
A
A
A
A
A
A
A
15600
A
T
G
A
A
G
C
T
A
G
T
A
A
A
T
A
A
A
C
T
G
A
T
T
G
A
C
T
G
A
T
A
G
A
A
T
G
T
C
T
G
A
A
A
G
A
G
A
A
C
15650
T
A
A
G
G
A
G
A
G
C
A
A
T
G
T
C
A
G
C
T
C
A
A
A
T
G
C
C
C
T
T
T
T
T
C
T
A
T
C
A
G
G
G
A
A
T
G
A
T
A
15700
G
G
G
G
T
G
T
G
G
A
T
G
T
A
T
G
C
T
C
T
T
T
A
T
C
C
A
A
C
G
T
C
T
T
C
A
T
G
G
T
T
G
A
A
C
T
T
A
A
G
15750
T
G
A
T
G
C
A
G
A
A
T
C
A
T
G
G
C
A
T
A
A
C
C
T
G
C
A
G
A
A
A
A
A
T
G
A
A
T
G
T
C
A
G
T
C
A
T
C
T
C
15800
T
T
G
T
A
A
G
A
G
C
T
G
C
C
C
C
A
G
G
A
A
G
A
A
A
A
G
A
T
T
G
A
G
A
A
A
G
CTG ATCCCAGAGC
15850
CTTAAGGAGT TAATATAGAG GAAGTATCCT CAAAATAGTA CCTGAGAAAG
15900
ATGATCTTAG AAGAATTGTG CACAATGGAT AGTGCGATGA AGAAGAGCCA
15950
TAAAAATACT CAGCTACAAG TATAATTCTT GTTCAAAATA GGCTTCTGTA
16000
AGTTTTACAA TTAATTACGA AATAAAACCT CTAAAATCCA ACTGTGAATT
16050
TCAGTCATGG TAAATGGTGC TAAGATTTTT TGCTTTGGGT TTTTTGTTGG
16100
T
T
T
G
T
T
T
G
T
T
T
T
T
G
T
T
T
G
T
A
T
G
T
T
T
T
T
G
A
C
A
G
G
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
A
16150 |
REPEAT
|
var(16132):[A:0.26]
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
A
T
A
G
C
T
C
A
C
T
G
T
A
G
C
C
T
C
A
A
A
C
T
C
C
T
16200
G
G
G
C
T
C
A
A
G
C
C
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
T
T
C
C
T
G
A
G
T
A
G
C
T
A
G
G
A
C
T
A
C
A
G
16250
G
C
A
C
C
C
A
T
C
A
C
C
A
C
A
C
C
C
T
G
C
T
A
A
C
T
C
T
T
T
A
A
A
C
A
T
T
T
T
T
T
T
G
T
A
G
G
C
T
G
16300
G
T
C
A
G
T
G
A
C
T
C
A
T
G
C
C
T
G
T
A
A
T
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
A
A
A
16350 |
REPEAT
A
T
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
T
C
A
G
G
A
G
A
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
C
T
G
16400
G
A
G
A
G
A
C
C
T
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
G
C
T
G
G
G
C
A
T
16450
G
G
T
G
G
C
A
T
G
T
G
C
C
T
G
T
G
G
T
C
C
T
G
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
16500
T
T
G
C
T
T
G
A
G
C
C
T
G
T
G
A
G
T
T
C
A
A
A
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
T
C
A
C
A
C
C
A
C
T
16550
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
T
C
A
C
A
G
A
G
C
A
A
G
A
T
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
G
T
T
T
T
T
16600 |
REPEAT
T
G
T
A
C
A
G
A
T
A
G
G
G
G
C
C
T
C
A
C
T
T
A
T
G
T
T
G
C
C
TGCTATGTTT ATGTGTTGAG
16650
TTAAGGCTGA ATTGGACCCC CATGTGTAGT CCAAAGAAAG TCAAAACCTC
16700
ATTTCAATTA TTTGCTAACC CAAACACAAA ATTAAGTTTA
T
GGGGAAGCT
16750 |
var(16741):[A:0.02]
TTACGAGAAC T
A
TCAAGTTT GTTTAACCAT TTGAGAGTTT TACCAAGCTG
16800 |
var(16762):[G:0.31]
AAAAATGCCC ATACTATACA TTTATAAAAC ATCTGGCTAA AAAATATAAT
16850
TCATAGAATA TTTGCTTTTG AAAGCTTTAA A
T
GAACATAT ATAAAAATTA
16900 |
var(16882):[G:0.01]
GATTCTGGT
A
TTTATAAAGC CAACAAAATT CACATTTAGT TTATCAAAAA
16950 |
var(16910):[G:0.31]
CATCATTGTT TGTTTGTTTG TTTGTT
T
G
T
T
GTTGTTTTTA CGTGTTGTTA
17000 |
var(16977):[:0.01]
CACTTCATCT TTTAGATGTA CAAC
A
GAGAG TTGAGTCTCT TCAAGATAAT
17050 |
var(17025):[:0.32]
GAGGAGAGAT GGGGAAGATT GGAAAAAGAA GAAGGGAAAT GGCTGAAATG
17100
AACCATATTT CCCTTCTATA ACATTTAAC
T
GATCTTCATC CTTCATATTT
17150 |
var(17130):[A:0.30]
AATTTGAAGA CATGGGTATT TGTCTTCAAA TATTTGATCT ATAAATATTT
17200
TGTACATCAA AGATTGTATA ATCAGTTAAA T
T
TTTTAAAA TGTAGTTTCT
17250 |
var(17232):[A:0.02]
GGCCTTTGAG GGTGTTTGTT TTTATTTACA G
G
A
T
C
C
T
G
A
A
G
G
A
T
C
A
G
A
A
G
17300 | Exon 5
D P E G S E 170
T
T
G
A
C
A
T
G
G
T
A
G
A
A
G
A
A
A
T
T
G
A
T
C
A
T
A
T
T
G
G
A
A
T
T
A
T
C
T
C
T
T
T
T
C
C
T
G
A
C
17350
V D M V E E I D H I G I I S F P D 187
T
T
C
A
A
G
A
T
T
C
C
G
T
C
T
A
A
T
C
C
T
A
G
GTATGTA AAAATAGTTG TTAATAAAAC
17400
F K I P S N P R 195
CACATACGGA ACTTTTGGTG AAGAAGCAGG TAACCAGTTA AAGGGGGCCA
17450
CCTAATGTTA ACAAAGGGTG TCACATAGGT GGATATGCAA AATCTTTTGA
17500
AGTTCTAGCA AGAACTTAAG CTCTGTTCTT GGCAAAAAAT TTCCAATACT
17550
TCTCAGCCAT TCTTTTTACA TATAGAAATA AAAATTGGGA AGAGGAAAAA
17600
ATAGTACCCA GGTTTTTTTG TCATAAAAAA CATCAACTCC TACCCCTCAA
17650
AGTATCTAAT AGATTGTCAG TTTAAAAGGC TGGTGTGGTC TTGTTCCTTG
17700
CTCTGGTTGC TATAAAATAG GGT
C
GTCTGT AGTTTTTGCC TGGATAAACT
17750 |
var(17724):[T:0.06]
ACCAGAAGGC AAAGTCCAAG AGGGAAGGAG TTCTCAGAGC TATATCTATT
17800
ATTTGGCCTC ACATGAAAGG ATTTAAGAAA AAGTTTAAAC AGGGTTCAAT
17850
GTAATAAATA TTCAATGAAC ACATTCTTGG TATGTGCAAA TCACAATAAG
17900
AGGGAGAGAT ACAAAATAAA TAATCCACAG TCCCTGCTTT CAAGAAATTT
17950
GTAATA
G
G
C
C
A
G
G
T
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
A
C
G
C
T
T
T
G
G
G
A
18000 |
REPEAT
G
G
C
C
A
A
T
G
T
C
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
A
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
18050
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
T
C
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
G
C
C
A
G
G
C
G
T
18100 |
var(18068):[A:0.02]
G
G
T
G
G
C
A
G
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
18150 |
var(18106):[T:0.01]
T
C
G
C
T
T
G
A
A
T
C
T
G
G
G
A
G
G
T
G
A
G
G
G
T
T
A
A
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
T
G
C
C
A
C
T
18200
G
C
A
C
T
C
C
A
T
G
T
T
G
G
G
C
A
A
C
A
G
G
A
G
C
A
A
A
A
C
T
C
C
AACTAAG ATAGAAAGAA
18250
GAAGGAAGGA AGGAAGGAA
G
G
A
A
A
GAAAGA GGGAGGGGAG GGAGGAAGGA
18300 |
var(18270):[:0.34]
|
var(18274):[G:0.01]
AGGAGGGAAG AAAAGA
A
AGA AAGAAATTTA TAATAGAGCA GAATGAATAA
18350 |
var(18317):[C:0.02]
GACAAGTGCA TCTATACATG GCTGCACTAG AATTTTAGAA CAACATCTTT
18400
TTATGGTCAT TTTT
C
CTCTG CCCTCAGTTA ATTCGCTGAC TGAAATTTTT
18450 |
var(18415):[T:0.09]
CTAAAAATTT AAATTGAATT TGGAGGTTTT AAATAACTTG GATAATTTAA
18500
AAATTGTGTA CATTCTTGAA AATACTACAT GTTCCATAGT GCAGAATTAA
18550
ACCTATTATT TTATTACTG
C
T
A
T
C
A
T
T
T
C
T
C
C
A
A
C
T
T
C
A
T
C
T
T
G
T
G
C
C
A
C
18600 |
REPEAT
T
T
G
C
C
C
C
A
T
G
G
C
A
A
A
T
T
A
T
G
T
G
C
T
A
G
C
C
A
T
G
G
T
C
T
G
G
C
A
T
G
T
C
C
A
G
T
G
C
T
18650 |
var(18608):[G:0.01]
T
T
C
C
T
A
C
C
T
C
C
G
T
G
C
C
T
T
T
G
C
A
C
A
T
G
T
C
A
T
C
C
C
C
T
C
T
A
C
T
T
G
G
A
A
T
G
G
G
C
18700
T
T
C
A
C
C
T
G
G
C
T
C
T
T
C
A
T
A
A
G
C
C
T
G
G
C
T
T
C
T
T
T
T
C
A
T
T
G
T
T
A
T
G
A
C
C
C
A
G
A
18750
G
T
A
G
A
A
G
C
T
G
C
T
A
C
A
A
A
A
A
G
G
C
T
A
T
T
C
C
T
G
G
A
T
G
C
A
T
G
A
T
G
T
A
A
T
G
T
A
A
T
18800 |
var(18760):[A:0.32]
C
T
C
T
T
G
C
T
T
T
G
T
T
T
T
A
C
T
C
C
C
T
A
T
C
T
C
A
G
C
A
T
C
T
T
G
T
T
T
A
T
T
T
T
C
T
T
C
A
T
18850
G
A
C
A
C
T
T
A
T
C
T
C
A
A
T
G
T
C
A
T
A
A
T
C
A
T
T
T
C
T
T
T
A
C
T
T
G
C
T
T
G
C
T
G
G
C
A
T
T
T
18900
T
T
A
T
T
C
C
C
C
A
C
T
A
G
C
T
T
A
T
A
A
A
C
T
C
T
T
T
A
A
G
G
T
G
G
G
C
C
T
T
G
T
C
T
G
T
A
T
T
G
18950
C
A
C
A
C
C
A
G
C
A
G
T
T
C
A
A
C
A
T
A
A
T
A
G
G
C
C
C
T
T
G
A
T
A
A
A
T
A
T
T
C
A
T
T
G
A
A
T
T
G
19000
A
T
G
A
TGATGG TAATAATCAT TATTATAATA CTATTAACAT TTGTGGACTT
19050
CATAGCCAAT CTGCAAGGTA GGCTCAGTAT ATATATGTGT GTGTGTGTGT
19100
G
T
ATATATAT GTGTGTATAC ACACATATAT ACATACATAC ACACACACAC
19150 |
var(19101):[:0.92]
ACACACACAC ACACCCATAG
T
T
T
T
T
T
T
G
A
A
A
C
A
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
19200 |
REPEAT
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
T
C
A
G
C
T
C
A
C
C
A
C
A
G
C
C
T
T
G
A
T
C
T
C
19250
C
C
G
G
G
C
T
C
A
A
G
C
A
A
T
T
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
T
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
19300 |
var(19251):[G:0.23]
A
A
G
C
A
T
G
C
A
C
C
A
C
C
A
C
A
C
C
A
G
A
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
T
T
G
T
A
G
A
G
A
T
G
19350
G
G
G
T
T
T
C
A
T
C
A
T
G
T
T
G
C
C
T
G
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
G
A
19400
T
C
C
T
C
C
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
T
A
G
G
C
A
T
G
A
G
C
C
A
C
T
19450
A
T
A
C
C
T
G
G
C
C
TAGTATATGT TTTTGAATAA AGGTTATTAA TTAAAGCCAG
19500
GTCATTTTCA TCTTTTAAAA ACCATGCTTT GTTTCCAACC ATAAATTCAT
19550
TTTTGTGAGG TGTAAATTTT ATCATCTGTA TAAGCTTGTC TTGTATTATA
19600
TGTTTCTAGA GACGTTATTA TGGATTTTGT AC
T
GTATTTT GGATTTTAGT
19650 |
var(19633):[C:0.01]
ATTATGTTAG CATAATTAGG CTCCAAGATT AAATAAATTC TCAGAAATA
A
19700 |
var(19700):[G:0.02]
TAAGTTCTTC AAATCAAAAC TAATGACTGT ATTAAGATAA AATACCAGGA
19750
AAAATAATAC AATATATGAA AAACTGGTTA CTAAACAATA TCTATTATCT
19800
ATTATCCTAA AAATGCTCAA TTATTTATTG CTTAAAAATC AGTCACAAAT
19850
AAAATATATT ACTTAGGTTT TATATATCTT TGTGTATTCT TCCCTCTTTA
19900
AAACAGGAAT TTATTAGATC TCCTCTGAGT GAATTAAAAA CATTTGATGA
19950
CATCTATAAT TTTAAATATT TTGCTTCCAC AG
A
T
A
T
G
G
T
A
T
G
T
G
G
A
C
G
A
T
20000 | Exon 6
Y G M W T I 201
C
A
A
G
G
C
T
A
A
A
T
A
T
A
A
A
G
A
G
G
A
C
T
T
T
T
C
A
A
C
A
A
C
T
G
G
A
A
C
C
G
C
A
T
A
T
T
T
T
G
20050
K A K Y K E D F S T T G T A Y F 217
A
A
G
T
T
A
A
A
G
A
A
T
A
T
G
GTAAT TTCTGACAAG TAAAAG
T
T
T
T
T
C
T
T
T
G
C
T
T
T
20100 |
REPEAT
E V K E Y 222
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
20150
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
20200
A
A
T
T
C
T
C
T
G
C
C
T
C
A
G
C
A
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
C
A
A
C
C
A
C
20250
C
A
T
A
G
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
C
A
G
G
G
T
G
T
C
A
C
C
A
T
C
T
20300
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
G
G
C
C
20350
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
C
A
C
C
C
A
G
C
C
AATTAA
20400
AAGTTTTTCT ATAAAAAGTT AGTGTTTTGC AATAATTCTT TTTAATAATG
20450
TAGTTAATGC AAAATTATTC CCAGATGAAG ATGAGGCAGC CTGTACGTAT
20500
GGCTAGAAGT ACTGGCTAGA GGTTGGAGGG AGGAGTAGTA GTTGAATGCC
20550
TAGATTCTAG TTCCAGCATG CCTTTAACCC TGATCAAGCA GAACAACCTC
20600
TGTGTACTTG TGTTCCCCAT CAGAGAGCTG GAAGAGATCT AGTCCCCTGA
20650
AGAGCTTGAC TAGTAAAGAT CCTTTCTAGA ATTGTGATTA TTATTAGGAG
20700
AAACTTAAAT AG
T
C
A
T
A
G
A
T
G
A
G
G
T
G
A
G
T
G
G
A
A
C
C
C
A
G
T
A
A
A
A
C
C
A
A
T
A
A
20750 |
REPEAT
A
T
G
A
T
T
T
A
C
T
T
G
A
G
T
C
T
T
A
A
A
A
C
C
A
A
T
T
A
G
T
G
A
C
A
A
A
A
C
A
A
A
A
A
C
A
A
C
A
A
20800
T
T
A
G
G
T
T
T
C
C
T
T
A
C
C
C
C
T
A
G
T
C
C
AACACTA TTTTCTGGCT CCTAAATTCC
20850
TAATATATTC ATTTGAATAT TTAAGATATT CTTATTTTGA AATAAATTAT
20900
ATTAATAGAC TAACAA
G
T
A
A
CGTAAATAGT TTAATCTTTC ATTTCTTATA
20950 |
var(20917):[:0.38]
GTAGTTTACT AGCATTTCTG TGTGCTCTGC TATCAAATTT AACTTTCTTC
21000
TGCTTGAAGC CATTTTTTAT TCCCTCAAGA GATTCATAAT GACATGGAGA
21050
AGAATAAATA CTGACACAAA TTTTAACAAT TAACAAGAAA AACAGTGACA
21100
AAACAAATTC GTTATGATGA AACTCAACCT TAAAGATTAC AGGCTCTCTG
21150
TAACATATAA TCCTAACCCA TCTCCCTTCT TCTAAGTGTT TTTGTATTTT
21200
CTCTG
T
A
T
A
T
C
T
A
G
A
A
T
C
C
A
C
C
C
A
C
C
T
C
T
T
A
C
T
G
T
C
T
G
T
A
G
C
C
A
C
T
C
T
C
A
21250 |
REPEAT
T
C
A
A
T
T
C
A
T
C
A
G
C
A
C
T
C
T
C
C
C
T
C
C
T
G
G
A
C
T
A
C
A
G
C
A
A
A
A
G
C
C
T
C
C
T
A
A
C
T
21300
G
A
T
G
T
C
T
C
T
G
C
T
T
C
C
A
AGCT ATCTTGCTTG GTATTAGCCA AAATAATCTT
21350
GAAATGCAAA TTTCATTATG TTATGTCACA ATTGAAAAGT TTTTTTGTTT
21400
TCAAGGAACC TATACTCTAA TGGAAGAAAT AACCTATTGC CTATAATAAA
21450
TGCTGTAATC AAAATA
T
AGG CAAAGTGCTT CTGGATTGAC CTCTGATTGT
21500 |
var(21467):[C:0.08]
TGGAGTGGGA AGGTTCTGCA GAGATTGTTG TTGGTGATGA CGATGATGA
C
21550 |
var(21550):[T:0.26]
GATGATGATT ATGATAATAA AGTGGATGTT GTGTTGATGT TACAGCTTGT
21600
CCAACTATAC CAGAAAGTCT AGCTGTTTGC TAGGCTTTAA AGTCTGCTCT
21650
AATCAAAATG GTAATATTAC CTGTTTGTTT TTATTTTCAG
T
C
T
T
G
C
C
A
C
A
21700 | Exon 7
V L P H 226
T
T
T
T
T
C
T
G
T
C
T
C
A
A
T
C
G
A
G
C
C
A
G
A
A
T
A
T
A
A
T
T
T
C
A
T
T
G
G
T
T
A
C
A
A
G
A
A
C
T
21750
F S V S I E P E Y N F I G Y K N 242
T
T
A
A
G
A
A
T
T
T
T
G
A
A
A
T
T
A
C
T
A
T
A
A
A
A
G
C
A
A
G
GTAAGAACA TTTGTTTTTT
21800
F K N F E I T I K A R 253
TGTTGTTTTT ATTTTTATTT TTCAAATTAA CTCAACTCTG GTTGATGATA
21850
GTTGCCCAAA GTGAGATCTG TGATTTATTA TCAAAGTGTG CCATGATTTG
21900
GGGACTAATT GATAAAGGAG ACATCATGCT GGTAGTTCAT TTGCTTATTC
21950
TGATTTTAGC TGATTCTGAG TTTAGCTTTG TTGGCT
A
TTC AACAGCAAAA
22000 |
var(21987):[G:0.08]
ACAAAGAAAA GTGCCAAAGA TCTAAGTTTG GTGTATGTGT TTAGAAACTA
22050
GGGTAACTTA GAATATTGGG ACTGAGATAT GAAGGATTCA CTTCCTATCT
22100
TTTTTTAATG ATTTA
A
T
C
A
G
C
C
A
G
C
T
A
A
T
G
C
T
G
C
G
T
A
A
C
T
A
C
T
T
C
A
A
A
A
C
22150 |
REPEAT
C
C
A
G
T
G
C
C
T
T
G
A
A
A
C
T
C
C
C
A
C
A
T
T
T
A
T
G
A
G
T
C
A
G
C
T
G
G
G
A
A
G
T
T
C
T
G
C
T
G
22200
A
T
C
T
G
G
G
C
C
A
G
G
C
T
G
G
T
G
T
C
A
G
C
T
G
G
G
C
T
C
A
C
C
C
A
T
G
T
A
G
C
T
G
C
A
G
C
C
A
G
22250
T
T
G
G
T
A
G
G
T
C
A
G
C
T
G
G
G
G
G
C
T
G
G
C
T
G
G
T
C
T
A
G
G
A
A
G
G
T
C
C
T
G
T
C
C
A
T
A
T
G
22300
T
C
T
G
G
C
A
G
T
T
G
G
A
T
G
G
G
G
C
T
A
A
A
A
G
T
G
T
G
T
G
T
G
C
C
T
C
T
C
A
T
C
A
T
C
C
A
G
C
A
22350
G
G
C
T
A
G
C
T
T
G
T
A
G
C
A
G
C
A
G
C
A
A
C
A
C
T
C
A
A
A
G
A
G
G
C
A
A
T
G
G
A
A
G
C
A
T
G
A
A
A
22400
G
T
C
C
C
C
C
T
G
A
G
C
C
T
A
G
G
C
T
T
G
G
T
G
C
T
G
G
C
A
C
A
C
C
A
T
C
A
C
T
T
C
C
A
C
A
C
A
T
T
22450
C
T
T
T
T
G
T
C
C
A
A
A
G
C
A
A
G
T
T
A
C
A
A
G
G
T
C
A
G
C
C
C
A
G
A
G
G
A
A
A
T
A
G
A
C
C
C
C
T
C
22500 |
var(22451):[A:0.34]
C
C
A
C
A
C
T
T
T
G
T
G
G
A
C
A
C
A
A
T
G
A
A
C
T
G
T
G
C
A
A
A
G
G
T
C
G
T
T
G
A
T
A
C
A
T
G
G
G
G
22550 |
var(22520):[G:0.31]
|
var(22537):[A:0.06]
A
G
G
T
A
G
A
G
A
A
T
T
G
G
G
G
G
T
T
A
G
T
T
T
T
G
C
A
A
G
C
A
A
C
C
T
A
T
C
A
C
A
AAAGCTTA
22600
GGTCATTTTA AAATTACAAT ATAATGTAGT TATACCAATC TATATAACTA
22650
T
A
T
G
T
G
T
G
G
G
G
T
A
C
T
C
T
T
C
T
A
A
G
T
A
C
T
C
A
G
C
A
T
A
T
A
T
T
A
G
C
A
C
A
T
T
T
A
A
T
22700 |
REPEAT
C
T
T
T
A
C
A
A
C
A
A
C
T
C
T
A
T
G
C
G
T
T
G
A
T
A
T
T
G
T
T
A
C
T
A
T
T
C
C
C
A
T
G
T
T
A
C
A
A
G
22750 |
NOT SCANNED
T
G
G
A
A
A
A
A
C
T
G
A
G
G
T
A
C
A
T
A
A
A
T
G
T
T
T
A
A
T
A
A
T
T
T
G
C
T
C
A
A
A
A
T
C
A
T
A
C
A
22800
G
C
T
A
G
T
A
A
G
T
T
G
C
A
C
A
G
C
C
T
G
T
C
T
G
C
T
T
C
C
A
G
A
G
T
C
C
A
T
G
C
C
T
C
A
A
A
C
A
T
22850
T
A
C
C
C
T
A
T
G
C
T
A
G
C
T
C
T
C
T
T
A
T
T
A
G
C
A
T
T
G
A
T
T
T
G
A
A
A
A
A
T
A
G
A
G
T
G
T
T
T
22900
A
T
T
A
C
T
T
G
G
T
C
T
A
A
A
C
C
A
G
C
A
T
A
A
A
A
G
G
C
T
C
A
C
T
T
G
A
G
A
G
A
A
A
A
T
T
A
T
A
G
22950
A
A
A
C
T
G
A
C
C
T
C
C
T
A
T
A
A
T
G
G
G
G
A
C
T
A
T
T
T
A
T
T
C
A
A
A
C
C
A
T
A
A
A
T
A
A
G
G
A
A
23000
A
G
T
T
A
G
C
T
C
T
T
G
C
T
A
T
A
G
T
A
T
T
A
T
T
T
G
C
T
G
G
G
T
A
G
A
A
A
G
T
T
T
A
C
T
T
T
A
T
T
23050
C
T
T
A
C
T
T
T
A
A
T
T
C
T
A
A
A
C
T
A
A
A
A
A
G
G
G
A
A
A
C
A
T
G
C
A
G
T
T
T
A
A
A
T
T
T
T
T
T
A
23100
T
G
A
A
T
A
G
A
T
C
T
C
A
T
A
T
A
A
C
A
G
T
G
A
G
A
T
T
G
G
A
C
A
C
G
T
A
C
C
T
T
T
T
A
A
A
A
A
C
A
23150
T
A
A
A
A
G
A
A
A
A
C
A
G
A
G
A
G
T
A
G
C
T
G
A
T
A
T
C
A
A
A
A
T
T
A
T
C
A
A
G
G
A
A
G
T
A
A
T
T
T
23200
G
G
C
A
T
A
T
A
G
G
A
G
A
G
G
G
C
C
C
T
G
A
T
T
C
T
A
A
G
T
C
T
T
G
T
G
A
T
C
T
C
C
C
C
A
A
G
A
T
C
23250
A
A
T
T
T
T
T
T
T
C
A
T
C
T
A
G
C
A
C
A
T
A
G
C
T
T
T
A
T
T
A
A
T
G
T
G
G
C
T
T
T
A
T
G
A
G
G
A
T
G
23300
A
A
A
T
G
T
A
A
T
A
G
TGCATGAAG GAC
G
C
T
T
T
A
T
T
T
A
T
T
A
T
T
A
T
T
A
T
A
C
T
T
T
A
A
23350 |
var(23324):[A:0.30]
|
REPEAT
G
T
T
C
T
A
G
G
G
T
A
C
A
T
G
T
A
C
A
C
A
A
C
G
T
G
C
A
G
G
T
T
T
G
T
T
A
C
A
T
A
G
G
T
A
T
A
C
A
T
23400
G
T
G
C
C
A
T
G
T
T
G
G
T
T
T
G
C
T
G
C
A
C
C
T
A
T
T
A
A
C
T
C
A
T
C
A
T
A
C
A
T
T
A
G
G
T
A
T
T
T
23450
C
T
C
C
T
A
A
T
G
C
T
A
T
C
C
C
T
C
C
C
C
G
T
C
C
C
C
C
A
C
C
C
C
A
T
G
A
C
A
G
G
C
C
C
C
A
G
A
G
T
23500
G
T
G
A
T
G
T
T
C
C
C
C
G
C
A
C
T
G
T
G
T
C
C
A
A
G
T
G
T
T
T
T
C
A
T
T
G
T
T
C
A
G
T
T
C
C
C
A
C
C
23550
T
G
T
G
A
G
T
G
A
G
A
A
C
A
T
G
C
G
G
C
A
T
T
T
G
G
T
T
T
T
C
T
G
T
C
C
T
T
G
T
G
G
T
A
G
T
T
C
A
C
23600 |
var(23583):[A:0.01]
T
C
A
G
A
A
T
G
A
T
G
G
T
T
T
C
C
A
G
C
T
T
C
A
T
C
C
A
T
G
T
C
C
C
T
G
C
A
A
A
G
G
A
C
A
T
G
A
A
C
23650
T
C
A
T
C
C
T
T
T
T
T
T
A
T
G
C
C
T
G
C
A
T
A
G
T
A
T
T
C
C
A
T
G
G
T
G
T
A
T
A
T
G
T
G
C
C
A
C
A
T
23700 |
var(23657):[A:0.03]
T
T
T
C
T
T
A
A
T
C
C
A
G
T
C
T
A
T
C
A
T
T
G
A
T
G
G
G
C
A
T
T
T
A
G
G
T
G
G
G
T
T
C
C
A
A
G
T
C
T
23750
T
T
G
C
T
A
G
T
G
T
G
A
A
T
A
G
T
G
C
T
G
C
A
G
T
A
A
A
C
A
T
A
C
G
T
G
T
G
C
A
T
G
T
G
T
C
T
T
T
A
23800
T
A
G
C
A
G
C
A
T
G
A
T
T
T
A
T
A
A
T
C
C
T
T
T
G
G
G
T
A
T
A
T
A
C
G
C
A
G
T
A
A
T
G
G
A
A
T
C
A
C
23850 |
var(23835):[C:0.02]
T
G
G
G
T
C
A
A
A
T
T
G
T
A
T
T
T
C
T
A
G
T
T
C
T
A
G
A
T
C
C
T
T
A
A
G
G
A
A
T
T
G
C
C
A
C
A
C
T
G
23900
T
C
T
T
C
C
A
C
A
A
T
G
G
T
T
G
A
A
C
T
A
G
T
T
T
A
C
A
C
T
C
C
C
A
C
C
A
A
C
A
G
T
G
T
A
A
A
A
G
C
23950
G
T
T
C
C
T
A
T
T
T
C
T
C
C
A
C
A
T
C
C
T
C
T
C
C
A
G
C
A
T
C
T
G
T
T
G
T
T
T
C
C
T
G
A
C
T
T
T
T
T
24000
A
A
T
G
A
T
T
G
C
C
A
T
T
C
T
A
A
C
T
G
G
T
G
T
G
A
G
A
T
G
G
T
A
T
C
T
C
A
T
T
G
T
G
G
T
T
T
T
G
A
24050
T
T
T
G
C
A
T
T
T
C
T
C
T
G
A
T
G
A
C
C
A
G
T
G
A
T
G
A
T
G
A
G
C
A
T
T
T
T
T
T
C
A
T
G
T
G
T
C
T
G
24100
T
T
A
G
C
T
G
C
A
T
A
A
A
T
G
T
C
T
T
C
T
T
T
T
G
A
G
A
A
G
T
A
T
C
T
G
T
T
C
A
T
A
T
C
C
T
T
T
G
C
24150
C
C
A
C
T
T
T
T
T
G
A
T
G
G
G
G
T
T
G
T
T
T
G
T
T
T
T
T
T
T
C
T
T
G
T
A
A
A
T
T
T
G
T
T
T
A
A
G
T
T
24200
C
T
T
T
G
T
A
G
A
T
T
C
T
G
G
A
T
A
T
T
A
G
C
C
C
T
T
T
G
T
C
A
G
A
T
G
G
G
T
A
G
A
T
T
G
C
A
A
A
A
24250
A
T
T
T
T
C
T
C
C
A
T
T
C
T
G
T
G
G
G
C
T
G
C
C
T
G
T
T
C
A
C
T
C
T
G
A
T
G
G
T
A
G
T
T
T
C
T
T
T
T
24300
A
C
T
G
T
G
C
A
G
A
A
G
C
T
C
T
T
T
A
G
T
T
T
A
A
T
T
A
G
A
T
C
C
C
A
T
T
T
G
T
C
A
A
T
T
T
T
G
G
C
24350
T
T
T
T
G
T
T
G
C
C
A
T
T
G
C
T
T
T
T
G
G
T
G
T
T
T
T
A
G
T
C
A
T
G
A
A
A
T
C
C
T
T
G
C
C
C
A
T
G
C
24400
C
T
A
T
G
T
C
C
T
G
A
A
T
G
G
T
A
T
T
G
C
C
T
A
G
G
T
T
T
T
C
T
T
C
T
A
G
C
G
T
T
T
T
T
A
T
G
G
T
T
24450 |
var(24438):[T:0.09]
T
T
A
G
G
T
C
T
A
C
C
A
T
G
T
A
A
G
T
C
T
T
T
A
A
T
C
C
A
T
C
T
T
G
A
A
T
T
A
A
T
T
T
T
T
G
T
A
T
A
24500
A
G
A
T
A
T
A
A
G
G
A
A
G
G
G
A
T
C
C
A
G
T
T
T
C
A
G
C
T
T
T
C
T
A
T
A
T
A
T
G
G
C
T
A
G
C
C
A
G
T
24550
T
T
T
C
C
C
A
T
C
A
C
C
A
T
T
T
A
T
T
A
A
A
T
T
G
G
G
A
A
T
C
C
T
T
T
C
C
C
C
A
T
T
T
C
T
T
G
T
T
T
24600
T
T
G
T
C
A
G
G
T
T
T
G
T
C
A
A
A
G
A
T
C
A
G
A
T
G
G
T
T
G
T
A
G
A
T
G
T
G
T
G
G
T
G
T
T
A
T
T
T
C
24650 |
var(24603):[C:0.03]
T
G
A
G
G
C
C
T
C
T
G
T
T
C
T
G
T
T
C
C
A
T
T
G
G
T
C
T
A
T
A
T
A
T
C
T
G
T
T
T
T
G
G
T
A
C
C
A
G
T
24700
A
C
C
A
T
G
C
T
G
T
T
T
T
G
G
T
T
A
C
T
G
T
A
G
C
C
T
T
G
T
A
G
T
A
T
A
G
T
T
T
G
A
A
G
T
C
A
G
G
T
24750
A
G
C
A
T
G
A
T
G
C
C
T
C
C
A
G
C
T
T
T
G
T
T
C
T
T
T
T
T
G
C
T
T
A
G
G
A
T
GA AAGACACTTT
24800 |
var(24754):[G:0.03]
AAAGTGCCTC AAGTGCTTTA C
G
TAATTTCA AATTGTT
A
CA TTTTATCTGA
24850 |
var(24822):[A:0.25]
|
var(24838):[T:0.01]
ATCCTGTTAT TGTAACCATG TTAGTAAAAC AGTTTTATGC TATTGTCTGA
24900
CAG
A
T
A
T
T
T
T
T
A
T
A
A
T
A
A
A
G
T
A
G
T
C
A
C
T
G
A
G
G
C
T
G
A
C
G
T
T
T
A
T
A
T
C
A
C
A
T
24950 | Exon 8
Y F Y N K V V T E A D V Y I T 268
T
T
G
G
A
A
T
A
A
G
A
G
A
A
G
A
C
T
T
A
A
A
A
G
A
T
G
A
T
C
A
A
A
A
A
G
A
A
A
T
G
A
T
G
C
A
A
A
C
A
25000
F G I R E D L K D D Q K E M M Q T 285
G
C
A
A
T
G
C
A
A
A
A
C
A
C
A
A
T
G
GT AAGATGTTAA GACACAGTCA CTCACACCTA
25050
A M Q N T M 291
CAGATGCATC CAGAG
G
T
G
A
G
A
G
A
T
G
A
G
A
A
G
T
T
A
C
T
T
A
A
A
A
A
C
C
A
T
C
T
A
G
T
25100 |
REPEAT
C
C
A
A
T
C
C
C
C
C
A
T
T
T
T
A
G
A
T
A
G
G
T
T
G
A
A
A
C
T
T
A
A
A
A
T
C
C
T
C
C
A
T
T
G
G
C
T
T
C
25150 |
REPEAT
C
C
T
T
T
G
C
C
T
T
T
A
G
G
G
T
A
A
A
G
T
T
C
A
T
T
T
T
C
C
T
T
G
G
C
A
T
C
A
G
C
C
T
C
C
C
T
T
A
C
25200
C
A
G
C
T
G
A
T
C
T
C
A
T
G
C
C
C
T
T
T
C
C
T
C
C
C
T
C
C
C
T
C
C
C
C
T
T
T
G
T
A
T
T
A
A
T
C
A
C
T
25250
C
C
A
A
T
T
T
C
T
C
T
A
A
C
T
G
A
C
C
A
A
A
G
T
C
T
C
T
C
T
T
G
C
C
T
C
C
A
G
G
T
C
T
T
T
A
C
A
A
T
25300
A
T
C
A
T
T
T
A
T
T
C
T
G
C
T
T
G
A
A
A
A
T
G
C
T
C
T
T
T
C
C
C
A
T
T
G
T
C
A
C
C
T
C
C
T
G
C
C
C
C
25350
T
T
C
T
T
T
G
C
C
T
G
G
C
T
A
A
T
T
C
C
T
T
C
T
C
A
T
T
C
T
T
T
A
A
G
T
T
T
C
A
A
C
A
T
T
G
A
C
A
G
25400
C
C
T
T
T
C
T
C
T
G
G
G
A
A
G
C
C
T
C
C
C
C
T
G
A
C
T
C
T
T
C
T
A
C
A
C
T
A
G
G
T
T
A
G
C
T
G
C
C
C
25450
CGGCTGTATA GCCTCTTTTC TTAACACATT CTTCACATTT CATTG
C
A
G
C
G
25500 |
REPEAT
G
T
T
C
T
C
A
A
C
T
A
G
G
G
G
T
G
A
T
T
T
T
T
T
A
T
T
C
C
C
A
A
G
G
A
G
A
C
A
T
T
T
G
G
C
A
A
T
G
T
25550
C
C
A
G
A
G
A
C
A
T
T
T
G
T
G
G
T
T
G
C
T
A
C
T
G
G
T
G
T
T
T
A
C
T
A
G
G
G
A
G
A
G
G
C
C
G
G
G
G
A
25600
T
G
C
T
G
C
T
A
A
A
T
T
C
C
T
A
C
C
A
T
G
C
A
C
A
G
G
G
C
A
G
G
C
C
C
C
T
A
C
A
A
C
A
A
A
G
A
A
T
T
25650
A
T
C
C
T
G
T
T
C
A
A
A
A
T
G
T
C
A
A
T
A
A
T
G
C
T
G
A
G
G
G
G
T
T
G
A
G
A
A
A
C
C
C
T
TCTTTA
25700
CTGGAATGGC TTGTTTACTT ATCTATCATT TTCAATATTA AACTATTTGT
25750
GAGTCTGAAT CATTTCCCTT ATATGCCCAG AGACAGCATA GTTTCTTGCA
25800
AGGAAATATT CATGAAGTTA TTTGTCCATA GTTTAGGGCT AATGATTGCT
25850
GGAACTGAGA TTAGGGCGCT GGTTCCCTTT CCCTTATTCA GC
G
TTCTTTA
25900 |
var(25893):[A:0.30]
CATTATACCA CAGATGATA
T
GAGTTCATGT CATTTTTGCT CACTTTTTCG
25950 |
var(25920):[C:0.02]
TATTCATTTG GTTTGCATCA TCAATCATTT ATCCTCTACA ATCTTATTAA
26000
TTCAAGATGT AAATTAAATG CATTTTTAAA A
T
G
C
A
A
A
A
T
T
C
T
A
T
G
C
T
A
G
A
26050 |
REPEAT
C
A
C
T
G
G
G
A
T
G
T
A
A
G
G
C
T
A
A
A
T
A
A
G
A
C
A
A
A
A
A
T
G
C
C
T
G
C
C
C
T
C
A
A
G
T
C
G
C
T
26100 |
var(26064):[A:0.31]
C
A
ATTTTATA AGAAAAAATA AGGCAAAGTT TATTTTACTG TTGTGTTAAT
26150
AATTAAATAA TATAATATGA CTTAACCCCA CATCCCTTTA CTCATTGTGT
26200
GTTTTAAAAT TAGTATTTAA ATTTGTAAGC AGTGAAGTAC AAATTAAATA
26250
TTATAAAAAC CAACAAACTC TCAGTTAAGG GCGGAAGTAC GCTGAGAGGC
26300
CTATAAAGAT GAATGATGAC GCAGGAATTG GAAGAAGTCG TGTTTGTCAG
26350
CTATTACCAA AAAGACCTGT TGGACCATGT GATGTTCAAG ACCCTTCTAC
26400
TTCTATAATT CTATACAAAT AATTAGAAAA TAACATCCTG GGCTTAATCG
26450
TGGACT
C
GGT TATCTACTTT ACTTTTGACA CTAAACCATT CTTCTGACAT
26500 |
var(26457):[T:0.02]
TTACCTTCAA TTTAGAGGTT AGTAAAAGCA GATTTTATTA ATTTTTCCTT
26550
ATAAGTTCTT CTCCGAAATA ACTCCTCCTT TTTCTCCTTT TAAAAAG
T
T
G
26600 | Exon 9
L 292
A
T
A
A
A
T
G
G
A
A
T
T
G
C
T
C
A
A
G
T
C
A
C
A
T
T
T
G
A
T
T
C
T
G
A
A
A
C
A
G
C
A
G
T
C
A
A
A
G
A
26650
I N G I A Q V T F D S E T A V K E 309
A
C
T
G
T
C
A
T
A
C
T
A
C
A
G
T
T
T
A
G
A
A
G
A
T
T
T
A
A
A
C
A
A
C
A
A
G
T
A
C
C
T
T
T
A
T
A
T
T
G
26700
L S Y Y S L E D L N N K Y L Y I 325
C
T
G
T
A
A
C
A
G
T
C
A
T
A
G
A
G
T
C
T
A
C
A
G
GTAAGT GTGTGTGTGT GTGTGTGTGT
26750
A V T V I E S T 333
GTGTGTGTTA TACTTTCTTT TGAAAAATAT TTAGACAGAA TATTAAAGAT
26800
ATAAATAATT TCCAATTTCT ATAATTATTT CACATTGTAT TTTCTTTCAT
26850
AGTTAAATAT AATTATAAGA AGTAGACTTT TATATAGTTA
T
AAAAAGGCA
26900 |
var(26891):[C:0.35]
GTAGGGCTCT GCTTCTTTTT AGTCATTGGA CAAG
C
CATTG GGTCCCTATT
26950 |
var(26935):[T:0.02]
ACCTCCACTT CTACTGCAAA AATGGGAAAA CAGTACCCAA TTCATGTCCA
27000
AAGTAGTTCT GCAGGCTCTC TGCCTTGACC ATTTGGCACC CTAGTGTCCT
27050
CACGTGGTGA AAATCAAAAC CAAAAT
A
AGA TTATGTGTGT AAAACTATTT
27100 |
var(27077):[G:0.07]
GATAAAGTAC TATACAAATA AAAGTTATTA CTATTATCAT TATTATAGTC
27150
TACATAATGA TGGAGTCAAA CTGAATGTTT CCTAAAGCCT AAAGTTTTCA
27200
ACATTATTTT AATGTTTCTT CTTTTTATTT TTTCCTCAAC TTATTTTAAA
27250
TAAGTTCAGT TTAAGCAGTA TCTATGAGAT ATTTAAAGTA TTGCCAAACA
27300
GACAGGCTTG CAAACATTAA TGATGTATGA TGCCAGCACT AAAGTGGCTT
27350
ACAAATTAGC ATCAG
G
TATA AGACAGGTGA AGAAAGAACT GTTGCAAGAA
27400 |
var(27366):[A:0.16]
A
G
AATTCCAT ATGAGCTCTA AGCAAAATAT TAATGCAATA GGATTCAGAG
27450 |
var(27402):[T:0.02]
GAAGGTGAGC
T
T
C
T
A
G
A
T
G
A
T
T
G
T
T
G
A
G
C
A
A
G
C
A
A
G
A
A
C
A
G
T
G
T
T
G
T
G
A
A
27500 |
NOT SCANNED
G
A
T
G
A
T
C
A
G
T
C
T
T
G
A
A
A
A
A
T
A
A
T
T
A
G
G
G
T
T
T
T
G
A
G
G
C
A
G
A
G
T
T
G
C
T
A
G
A
C
27550
A
G
G
G
T
G
A
A
A
T
A
G
A
A
A
C
C
C
T
C
C
A
G
A
G
A
G
A
G
G
G
C
A
G
A
T
G
A
A
G
A
A
G
A
G
T
A
G
A
T
27600
G
G
T
G
A
A
G
C
T
T
A
A
T
C
T
T
T
G
A
G
G
A
C
A
G
C
A
G
A
T
C
A
T
C
C
A
G
T
T
T
G
G
C
T
A
A
A
A
T
A
27650
T
A
G
G
A
T
A
T
G
T
A
T
A
G
A
A
T
G
T
A
T
T
A
G
A
G
A
T
G
T
A
A
T
A
T
T
G
G
A
A
A
G
G
A
G
T
T
T
G
G
27700
G
A
A
T
A
T
T
A
A
A
G
C
T
T
C
A
A
A
T
G
T
T
A
T
T
C
T
T
A
A
T
A
G
T
T
T
A
A
C
T
T
A
A
T
C
T
T
T
A
C
27750
C
T
G
G
A
G
G
A
T
A
A
C
A
T
T
A
T
T
G
G
G
C
T
C
T
T
G
C
C
A
G
T
T
G
T
C
T
G
G
T
C
A
T
G
T
C
C
C
C
T
27800
T
C
C
C
T
C
C
C
C
C
T
C
C
C
C
C
C
T
C
C
C
G
C
T
C
C
C
C
T
C
C
C
T
C
C
C
C
T
C
C
C
C
C
T
C
C
C
C
T
C
27850
C
C
C
C
T
C
C
C
C
T
C
C
C
C
C
T
C
C
C
C
C
C
T
C
C
C
G
C
T
C
C
C
C
T
C
C
C
C
T
C
C
C
C
C
T
C
C
C
C
T
27900
C
C
C
C
C
T
C
C
C
C
C
C
T
C
C
C
A
C
T
C
C
C
C
C
C
T
C
C
C
C
C
T
C
C
C
C
C
C
T
C
C
C
C
T
C
C
C
C
T
C
27950
C
C
T
C
C
C
T
C
C
C
C
T
C
C
C
G
A
G
T
C
T
T
G
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
G
28000 |
REPEAT
G
T
A
C
A
G
T
C
T
C
A
G
C
T
C
A
A
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
28050
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
A
G
A
T
T
A
C
A
G
G
C
A
T
A
T
A
C
C
A
C
C
A
T
G
C
28100
C
T
G
G
C
A
C
T
T
T
T
T
T
T
G
T
T
T
T
C
G
T
T
T
T
T
T
A
G
T
T
T
T
A
G
T
A
G
G
G
A
T
G
A
G
G
T
T
T
C
28150
A
C
C
A
T
G
T
T
G
G
C
C
C
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
C
T
T
T
C
A
G
G
G
T
T
C
T
T
T
C
T
A
T
A
28200
T
C
A
A
G
C
T
C
C
C
T
T
T
T
T
C
T
G
A
T
T
T
C
T
C
T
C
T
A
T
G
T
A
T
C
T
A
T
G
C
T
C
T
G
T
G
A
A
C
A
28250
C
C
A
A
C
C
C
C
C
A
T
C
C
C
C
C
A
C
C
T
C
C
A
C
T
T
C
T
G
T
A
A
G
G
C
T
C
A
G
T
T
T
C
T
G
G
C
C
T
G
28300
A
C
C
C
T
T
C
C
C
T
C
T
C
T
C
C
T
C
A
A
T
C
C
C
T
T
G
A
A
T
A
C
A
G
T
C
A
A
C
T
G
A
A
A
C
T
C
A
G
G
28350
C
C
A
C
T
G
A
T
G
A
A
A
A
G
T
G
G
T
G
T
C
C
C
T
T
C
C
T
G
G
C
A
T
C
C
T
T
C
C
T
C
A
G
T
C
C
A
G
T
C
28400
C
T
G
T
A
G
C
T
C
T
A
C
T
T
C
T
C
C
A
A
G
G
G
C
T
T
C
T
C
T
A
C
A
T
A
C
G
A
G
C
T
T
G
T
G
C
A
T
A
A
28450
G
G
C
C
T
T
G
G
A
A
A
C
T
C
C
T
G
A
G
G
T
C
T
A
A
A
C
T
C
T
T
C
T
C
T
G
C
T
G
T
G
C
C
C
C
T
C
T
G
A
28500
A
G
C
A
A
G
A
C
C
T
A
T
G
T
C
C
T
A
C
T
T
A
C
T
A
C
T
G
G
T
A
A
A
T
G
A
A
T
G
A
A
T
G
C
A
A
G
A
A
T
28550
G
G
A
G
T
G
A
G
T
G
A
A
T
G
A
A
T
A
A
G
T
C
T
G
T
G
G
A
G
A
C
A
T
A
T
A
G
A
G
A
T
G
A
A
A
T
G
G
A
T
28600
A
T
C
C
A
T
A
C
A
G
A
T
C
A
T
G
A
T
A
C
T
C
C
T
A
A
A
A
A
C
T
G
T
C
A
A
C
ATG ATGCTTGCCA
28650
TTTCCTTAG
G
T
G
G
A
T
T
T
T
C
T
G
A
A
G
A
G
G
C
A
G
A
A
A
T
A
C
C
T
G
G
C
A
T
C
A
A
A
T
A
T
28700 | Exon 10
G G F S E E A E I P G I K Y 347
G
T
C
C
T
C
T
C
T
C
C
C
T
A
C
A
A
A
C
T
G
A
A
T
T
T
G
G
T
T
G
C
T
A
C
T
C
C
T
C
T
T
T
T
C
C
T
G
A
A
28750
V L S P Y K L N L V A T P L F L K 364
G
C
C
T
G
G
G
A
T
T
C
C
A
T
A
T
C
C
C
A
T
C
A
A
G
GTAGA TTGGGTGAGG GGGTAGACGT
28800
P G I P Y P I K 372
TGCTACATAT GATCATCTTG TTCTGTTCAT GGAAAACATG TGGGTGGCAA
28850
ACAGGGTAAG AATGTTGCCA TGAAGTCACA GAGGGAGCTT ATTCTGTGAA
28900
ACCTGCCCCT C
C
TGGTGGAC ACAGACAGGG ATGGGAAATT GAAGGTCAGC
28950 |
var(28912):[T:0.32]
TGCAGCCTTG GCAATGACTT CAAAAGTGAG GGCAAGATAG CCTTGTATTA
29000
GGCATCCCTA AATAAGCATT AAATTACATG TAATAAATAA GCATTAAATT
29050
ATATGTAAAT AAAATCTCAT AAGACTCTAG TTCAAAAATA CAAACATTTA
29100
AAATTATTTG GTGGCAAATT CTTAAAAAGC CTTAAGATGG AGATATCATT
29150
CC
T
T
G
A
A
A
A
T
A
G
A
C
T
C
C
T
T
T
C
T
C
T
C
A
C
T
A
T
G
T
T
T
T
T
G
C
C
T
C
C
A
G
T
G
T
G
T
C
29200 |
NOT SCANNED
T
C
A
T
T
T
G
T
T
T
C
C
C
T
C
T
G
T
C
T
C
T
G
T
G
T
T
G
T
C
T
T
T
G
T
G
C
A
T
A
A
C
T
C
T
G
T
T
C
A
29250
A
T
C
T
C
T
C
G
T
C
T
C
T
G
T
A
T
T
G
C
T
C
T
C
T
G
T
T
C
T
T
T
T
C
A
T
T
T
T
T
G
C
T
T
C
T
T
T
C
C
29300
G
T
C
C
C
T
G
A
A
T
C
T
C
T
T
T
T
T
T
T
C
T
G
T
C
T
T
T
T
T
T
G
C
T
T
A
C
T
C
C
T
C
T
G
C
A
T
T
C
A
29350
T
T
T
T
T
C
T
C
T
C
T
T
T
C
A
C
C
T
T
C
T
T
T
T
C
C
T
C
C
T
C
T
A
A
A
T
G
C
T
G
A
C
A
G
T
A
T
A
G
A
29400
A
T
T
G
A
A
A
C
A
T
T
C
A
T
G
T
G
G
T
T
T
T
T
A
G
A
T
T
T
T
T
A
T
C
T
A
T
C
A
T
T
A
T
A
T
A
T
T
T
T
29450
A
T
T
A
C
A
A
A
T
A
A
T
A
T
A
T
T
T
T
A
T
T
A
T
G
T
T
G
A
T
T
A
A
A
T
G
G
A
A
A
T
G
T
T
T
A
T
T
C
C
29500
C
T
G
C
C
C
T
T
A
A
T
T
T
A
G
A
A
A
T
C
C
A
G
A
G
C
A
A
A
A
T
T
T
T
T
T
T
T
T
G
T
T
C
T
T
T
G
A
A
A
29550
A
T
G
T
G
T
T
A
C
T
T
T
T
T
A
A
A
A
T
C
A
A
C
T
T
A
A
G
T
A
C
A
A
T
C
A
A
A
A
T
G
T
G
T
T
A
T
T
T
A
29600
T
T
A
T
T
T
A
C
T
G
T
G
G
G
T
C
A
T
G
G
G
C
T
T
T
T
A
A
G
A
A
A
A
A
A
A
A
G
G
A
T
T
T
A
C
C
A
A
G
C
29650
C
C
A
A
A
G
C
A
A
G
G
T
T
T
G
G
A
C
A
T
G
C
T
T
G
T
A
G
G
T
T
C
T
T
A
C
A
T
A
T
A
T
A
T
A
C
T
A
T
A
29700
T
A
T
A
G
A
A
A
A
T
A
A
T
A
T
A
T
A
A
C
A
A
A
G
T
A
T
C
A
T
A
T
A
A
T
G
C
A
T
A
T
A
C
A
G
T
A
A
T
A
29750
T
A
T
A
A
T
A
T
A
T
A
T
A
C
T
A
A
A
A
T
A
T
G
T
A
A
A
T
A
T
A
G
C
A
A
T
A
T
T
A
T
A
T
A
G
A
A
C
A
T
29800
A
A
G
C
T
T
A
A
A
A
TATGTTTATA TAAAAGTAAA ATAACAAACT ATATCTGTGT
29850
GGAATTGTGT GTGTATATAT ATATATAT
A
T
GGCAGTGAGA GGTAGATGTT
29900 |
var(29879):[:0.66]
AAAGGAAAAA AGGTGTATCT ATTTTTGTTT CTCATATTCA AGGGACTTAT
29950
TCCCAGAA
G
C GATTGCCTCA TTTTCTCCTT TATCCAGTCC TAAACCAATC
30000 |
var(29959):[A:0.23]
AAAGAAATAC AGAAGTTAGA TAGCAGAAGA CCTTATCACA CCTACTCCTT
30050
GACTGACTTA ATAGAATGAT ATTTATGTTT TGAGTTTGCT TGATTTATGG
30100
GAGAATCT
A
T TCAAGAATGA TTTAACTAAA TAGAATTAAA TCTTTCTAT
A
30150 |
var(30109):[C:0.19]
|
var(30150):[T:0.06]
AGCTGAGAAT ACACTTCTCT TTACTAAATT AAACATAAGT AAA
C
C
A
G
G
T
G
30200 |
REPEAT
T
G
G
T
G
G
A
G
C
A
T
G
C
C
T
A
A
A
T
A
G
T
T
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
30250 |
var(30230):[T:0.05]
G
G
A
T
G
G
C
T
T
G
A
G
G
C
C
A
A
T
A
G
T
T
C
A
A
G
G
T
T
G
C
A
G
T
G
C
G
C
T
A
T
G
A
T
T
G
T
G
C
C
30300
T
G
T
G
A
A
T
A
G
C
C
A
C
T
G
C
A
C
T
C
C
A
A
C
C
T
G
G
G
C
A
A
C
G
T
A
G
T
A
A
G
T
C
T
C
T
G
T
C
T
30350
C
A
G
A
A
A
A
A
A
A
A
TTTTCAGAA AAAAATACAT AAATAATTTA TACTTTGGTG
30400
GGGAGGAAGG AAAATTATTT CAGAATTGTG CTTTAAAATA AGTGATGAGC
30450
TGTTGAAATA GAT
T
TGGATT GTTTTGACAA ACAG
G
T
G
C
A
G
G
T
T
A
A
A
G
A
T
T
30500 |
var(30464):[C:0.33]
| Exon 11
V Q V K D 377
C
G
C
T
T
G
A
C
C
A
G
T
T
G
G
T
A
G
G
A
G
G
A
G
T
C
C
C
A
G
T
A
A
C
A
C
T
G
A
A
T
G
C
A
C
A
A
A
C
A
30550 |
var(30523):[G:0.32]
S L D Q L V G G V P V T L N A Q T 394
A
T
T
G
A
T
G
T
A
A
A
C
C
A
A
G
A
G
A
C
A
T
C
T
G
A
C
T
T
G
G
A
T
C
C
A
A
G
C
A
A
A
A
G
T
G
T
A
A
C
30600
I D V N Q E T S D L D P S K S V T 411
A
C
G
T
G
T
T
G
A
T
G
A
T
G
G
A
G
T
A
G
C
T
T
C
C
T
T
T
G
T
G
C
T
T
A
A
T
C
T
C
C
C
A
T
C
T
G
G
A
G
30650
R V D D G V A S F V L N L P S G 427
T
G
A
C
G
G
T
G
C
T
G
G
A
G
T
T
T
A
A
T
GTGAGCTGAA TTCTCCTGTT GTATTTTCTA
30700
V T V L E F N 434
GGACAATGTG TACTCTTGAC CATGTGTTTT GGCTAGTGTG CAGAACAGAT
30750
GCGGCAGATT TTACACATGA GTCCAGTGAA CAGTTCCATA ATTTTGCATC
30800
CAAGACAAAT TAGTCCCAGA GACAATCTGC TAATCCATTG AATGGTCCTT
30850
GAGGAAGATA AATGTATCAA TTTTTTATTT GGGAGTTAAT TGTTTTATCT
30900
TACACCGTTA AGACCATATC AGACTCTAGA AGCTTCAGAA TAGGTATAGC
30950
AGTGCACATG AGTGTTAGGA ATATCCTCTC TTCCCCCCTC ACTTTTAATC
31000
CCCTGAAGGG CCACAAAAGG GTCAAAAATA TGGAAGCCTC CCTTTTTTCT
31050
AACTACAGAA ACCATTCTAC TTTAGAGCCC ACTTAATAGT CTTCTCTCGC
31100
AGCAAATATT ATTTAAGTTC CCAATCTCAA ATAAAATATG AGCAATAACA
31150
TAGTAACATA GTTACAAAGT AACTTAGTAA CATAATAACA TAGGCCAATG
31200
ACTGCAGCAT GCATATGCTC ACTGT
C
A
T
C
T
A
T
T
G
A
G
C
A
C
T
T
A
C
T
A
A
A
T
G
C
31250 |
REPEAT
T
A
G
G
C
A
T
C
A
T
G
C
T
G
A
G
A
G
C
T
T
T
A
T
G
A
A
G
A
A
T
A
C
A
T
G
A
A
A
C
A
C
C
A
T
T
T
A
A
T
31300
T
A
G
C
A
A
G
A
T
G
A
G
T
T
A
G
A
A
T
A
T
T
A
T
C
T
T
T
G
C
C
A
T
T
G
T
G
T
G
G
C
T
C
A
G
G
A
A
A
T
31350
G
G
A
G
G
C
T
T
C
T
A
A
C
C
T
C
T
C
T
T
T
T
G
A
T
T
A
A
C
T
A
A
T
T
T
T
A
T
C
C
A
G
A
G
T
T
A
A
T
A
31400
C
G
T
G
G
T
G
G
T
A
C
T
G
G
T
A
T
G
T
G
A
A
C
C
A
G
T
G
T
G
T
A
C
C
T
G
A
C
T
C
C
A
G
A
G
C
A
T
G
A
31450 |
var(31401):[A:0.49]
|
var(31402):[A:0.01]
G
C
T
A
A
T
A
A
C
A
C
T
T
C
T
G
C
T
G
T
C
T
G
AGGGTAG ATATTGCTGC CATGATATCA
31500
TTTCTTCTCC ACCTCATATT TATAAGCACC CATCTGTGCC TCTACTTCAC
31550
AATGAAACTG GGCCAGATAG TCTCTGAGAT GTTCGTTCAT AGCTCCTGTC
31600
CCCAAGAGTT AGTGCTACCT CCCCACTACT TCCCTTCTCC TACCCCCATT
31650
TCCTAAATGC TTAGGCATCT CTCTGTAATC ATCCCATGCG AGGAGAAGTC
31700
CCAACTTACC ATGACATTTC AGGAAGACCA CCAATAATTA TTCCTGGAGC
31750
ATCTTTCTCT CTTCATTTCA GACTTTTCCG CCATAGCCCA TAATCCCATC
31800
ATTCTTGTCT GTAGTCTTTG TAAAGTTGCT TGACACCACA GCTGTATAAA
31850
CACTGAAGTA ATGGAGGGTT TTTTCCCCTT TAGCATTTGT TATTGTGAAA
31900
TTTAGAAATT TATAAAGCAA GGAAAATAAT TTGA
A
AGGTA TGTTTTACAG
31950 |
var(31935):[T:0.02]
AAAGCATTAC ATCACAGTAT ACATGTCTTT TTGAAATTTC TCTTTTCAG
G
32000 | Exon 12
434
T
C
A
A
A
A
C
T
G
A
T
G
C
T
C
C
A
G
A
T
C
T
T
C
C
A
G
A
A
G
A
A
A
A
T
C
A
G
G
C
C
A
G
G
G
A
A
G
G
T
32050 |
var(32042):[G:0.08]
V K T D A P D L P E E N Q A R E G 451
T
A
C
C
G
A
G
C
A
A
T
A
G
C
A
T
A
C
T
C
A
T
C
T
C
T
C
A
G
C
C
A
A
A
G
T
T
A
C
C
T
T
T
A
T
A
T
T
G
A
32100
Y R A I A Y S S L S Q S Y L Y I D 468
T
T
G
G
A
C
T
G
A
T
A
A
C
C
A
T
A
A
G
G
C
T
T
T
G
C
T
A
G
T
G
G
G
A
G
A
A
C
A
T
C
T
G
A
A
T
A
T
T
A
32150
W T D N H K A L L V G E H L N I 484
T
T
G
T
T
A
C
C
C
C
C
A
A
A
A
G
C
C
C
A
T
A
T
A
T
T
G
A
C
A
A
A
A
T
A
A
C
T
C
A
C
T
A
T
A
A
T
T
A
C
32200 |
var(32158):[T:0.14]
|
var(32179):[T:0.06]
I V T P K S P Y I D K I T H Y N Y 501
T
T
G
GTAAGTA CATAATGATG GATTTACATC TTATTCCCCC ACCTGGAACA
32250
L 502
TTTTCCTTTG CCTCTAGAGA GGCATTAGAA TTATCCTTTA TACTTTTATT
32300
CCCAAAGCAC TTTCAAGA
A
C ATCATCTAAC TTGAACATCA GTT
T
C
T
C
A
A
A
32350 |
var(32319):[G:0.34]
|
REPEAT
A
A
A
C
C
T
T
T
G
A
A
A
T
A
G
G
G
C
A
T
G
A
T
T
T
T
C
A
T
G
A
C
C
A
T
T
T
C
A
C
A
G
A
T
G
A
G
G
A
A
32400
A
C
T
G
A
G
G
G
A
C
A
G
A
G
A
A
G
T
T
A
A
A
A
G
A
C
T
T
A
T
G
A
T
G
G
T
T
A
C
T
C
A
G
C
T
G
G
G
A
A
32450
G
A
G
G
A
A
A
A
T
T
T
T
G
A
T
T
T
G
A
G
C
T
G
A
G
G
A
C
T
C
T
G
A
C
T
C
C
TGT TCTAATAACA
32500
CTTTTTACCA AAGAGAGCCT AGTTATTCCA AAGCGAGAAC CTGATTAAAT
32550
CATGTTGCCT CTGTTCTCTT TCATGGCCAA AGATTATATG CCTAGACCCA
32600
GTTCGG
A
TAA GTGAATTTTA TTGTCAAAAA ATGGGGAAGC AAAATCCTCT
32650 |
var(32607):[G:0.03]
CCTGAGAATT GAATCCTATC TTGCCTGTTC CAATTC
T
GTA GCT
G
AGCAAC
32700 |
var(32687):[C:0.48]
|
var(32694):[C:0.14]
ATCCCTATTG CATCATTTAT ATTAAACAGA GGTGGATCGA TGAAGCCTGT
32750
TGGTGAAACC AAGAAAAAAA CT
T
ACAGAAA ATATTAAGAG CTTCCTGACA
32800 |
var(32773):[G:0.01]
ATCACCAAA
T
AAATGGAATG AATTATTTCG ACAGCCAGGC CAAGTACATG
32850 |
var(32810):[G:0.14]
CTGTTGGCTT TTCAACATTT TTGAGGAAGA AATTGAAAAA ACAGTAATGA
32900
GGACCATAGA TAAATATTGA CTGATAAAGG GAAACTGTTT ATGGACTAGA
32950
TACCAAATCC ATGTATGCAG TTCTGGTCTC TAAGGACAAT TTAAGGGACC
33000
TCTGAGGGCA TTTTGGCTTC A
T
GTGATTTT TTTTTTTT
T
A ATCTTAAACC
33050 |
var(33022):[C:0.48]
|
var(33039):[:0.86]
TTCAATTTAG AATCTAAACC CTGGCTTTAA ATCCCCAAAT A
A
G
A
T
G
C
A
C
T
33100 |
NOT SCANNED
C
C
A
C
T
T
A
T
T
C
A
T
C
T
A
T
T
T
T
T
T
T
T
T
A
A
T
C
G
G
T
G
A
A
A
C
A
A
A
A
G
G
G
G
T
T
T
T
A
G
33150
T
G
A
C
A
G
T
G
T
G
A
T
G
A
C
T
T
T
G
A
A
C
A
G
T
T
T
T
T
G
G
G
T
T
C
A
A
A
T
T
T
T
A
G
C
T
C
T
C
T
33200 |
REPEAT
A
A
T
T
T
A
C
T
A
G
T
T
G
T
G
T
G
A
T
T
T
T
G
A
A
T
T
A
A
A
A
T
C
A
G
T
A
T
G
A
C
T
T
T
T
A
G
T
T
T
33250
C
T
G
A
G
C
C
T
C
A
G
T
T
T
C
T
T
A
A
A
T
G
A
G
G
A
G
A
A
T
A
A
T
A
T
T
C
C
T
C
T
T
A
T
T
G
A
T
G
T
33300
A
T
T
G
T
G
A
G
A
A
T
G
A
A
A
G
G
A
G
T
T
A
A
A
T
A
C
A
T
G
T
T
A
A
A
G
T
T
C
C
T
G
G
C
A
C
A
T
A
G
33350
T
A
G
G
C
C
C
A
T
A
A
A
C
G
T
T
A
A
C
T
C
A
C
T
C
T
T
T
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
33400
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
T
C
C
T
T
C
C
T
T
C
C
T
T
33450
C
C
T
T
C
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
C
C
C
T
C
C
C
T
C
C
C
T
C
C
C
T
T
33500
C
T
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
T
T
T
C
T
T
T
C
T
T
T
C
C
C
T
C
C
C
T
C
C
C
T
C
C
C
T
C
C
33550
C
T
T
C
T
T
T
C
T
T
G
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
33600
T
T
C
T
T
T
T
T
G
G
T
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
C
C
C
C
A
A
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
33650 |
REPEAT
T
G
A
T
T
T
C
G
A
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
A
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
33700
G
C
C
T
C
A
G
C
C
T
T
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
T
A
T
G
C
C
C
A
C
C
A
C
A
G
T
G
C
C
C
G
33750
G
C
T
A
A
T
T
T
T
T
T
T
A
T
T
T
T
T
A
G
T
A
G
A
G
C
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
33800
C
A
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
33850
A
C
T
T
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
A
G
C
C
A
A
A
A
T
T
G
G
T
A
T
G
33900
T
C
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
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
33950 |
REPEAT
A
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
A
C
T
T
C
A
C
C
T
C
34000
T
C
G
G
G
C
T
C
C
A
G
T
A
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
G
T
G
T
G
A
T
T
A
C
34050
A
G
T
C
A
T
G
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
C
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
34100
T
G
T
T
T
C
A
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
T
G
A
T
34150
C
G
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
T
G
34200
T
G
C
C
C
A
G
C
C
T
A
A
C
T
T
T
A
T
T
T
T
T
C
T
T
TAACA TAATTTCTGC TCCAGCTCCA
34250
GGCTGCATCC TAAAGCACAG GTTTTGTTTT TGTTTGTTTA TTTTTTACTT
34300
ATTGTTGCTG CTGCTGTTTA TTTTTAG
A
T
T
T
T
A
T
C
C
A
A
G
G
G
C
A
A
A
A
T
T
A
T
34350 | Exon 13
I L S K G K I I 510
C
C
A
C
T
T
T
G
G
C
A
C
G
A
G
G
G
A
G
A
A
A
T
T
T
T
C
A
G
A
T
G
C
A
T
C
T
T
A
T
C
A
A
A
G
T
A
T
A
A
34400
H F G T R E K F S D A S Y Q S I 526
A
C
A
T
T
C
C
A
G
T
A
A
C
A
C
A
G
A
A
C
A
T
G
G
T
T
C
C
T
T
C
A
T
C
C
C
G
A
C
T
T
C
T
G
G
T
C
T
A
T
34450
N I P V T Q N M V P S S R L L V Y 543
T
A
C
A
T
C
G
T
C
A
C
A
G
G
A
G
A
A
C
A
G
A
C
A
G
C
A
G
A
A
T
T
A
G
T
G
T
C
T
G
A
T
T
C
A
G
T
C
T
G
34500 |
var(34453):[T:0.24]
Y I V T G E Q T A E L V S D S V W 560
G
T
T
A
A
A
T
A
T
T
G
A
A
G
A
A
A
A
A
T
G
T
G
G
C
A
A
C
C
A
G
C
T
C
C
A
G
GTA AGCCACAAAT
34550
L N I E E K C G N Q L Q 572
TATAA
G
TCAC AATTGAATTT TCTTTTCAAT GAAGGAGGCT GCCAAAGTTT
34600 |
var(34556):[C:0.01]
TAGCTGCTTC TGAAAAGTCT TGTCTCATAC AAATGATCTT TTCTTTTCTT
34650
TTTCAAATGA ACTTTTAG
G
T
T
C
A
T
C
T
G
T
C
T
C
C
T
G
A
T
G
C
A
G
A
T
G
C
A
T
A
T
T
C
34700 | Exon 14 |
var(34677):[A:0.07]
V H L S P D A D A Y S 583
T
C
C
A
G
G
C
C
A
A
A
C
T
G
T
G
T
C
T
C
T
T
A
A
T
A
T
G
G
C
A
A
C
T
G
G
A
A
T
G
G
A
T
T
C
C
T
G
G
G
34750
P G Q T V S L N M A T G M D S W 599
T
G
G
C
A
T
T
A
G
C
A
G
C
A
G
T
G
G
A
C
A
G
T
G
C
T
G
T
G
T
A
T
G
G
A
G
T
C
C
A
A
A
G
A
G
G
A
G
C
C
34800
V A L A A V D S A V Y G V Q R G A 616
A
A
A
A
A
G
C
C
C
T
T
G
G
A
A
A
G
A
GT TAAGTAATGC ATGTCTCGCT GCAGTGTTGC
34850
K K P L E R 622
ATGAAGTGTG GCCACCAGGC TAGGATATGG AGGAAGAACT AAGGGAAGAC
34900
TAGGCCTGCT TTTCTGTAAT CTACTCAACA TACTCATTTT TAGGAAGGTA
34950
AACCATCCTC CTGTCAGCTC CCAAAGCACA GGTCAATCCT CTTTTGTTTT
35000
TCAAATGTAA ATGTAAGCAC TTTAAGAATA TATGATCATG GTAGCAATTA
35050
CATTCATGGA GGAAAAATTA CTATCAGAAT ACTTTGGAGG TTTAGGGTAG
35100
GGTGTTGATG GCAGTTATAG TAGCTAGTAG CAGCACAGGA AAGACCTGTA
35150
TAGGTAACAT TTGGATTTTT TTTAAATTCT CATTGAAATC CATAGCACAG
35200
AAGAATCTCA AAATCATTCA ATTCTCATAA GTTCCTATTT ATCTTATTAT
35250
GTTCAGCTAT TATTTTCGAG GCTTGAATGT CTTTGAACAA GGAAGGAAGG
35300
ACTGAGAAAC TGTAAAATTA AAAAATACTC GGAGAAC
G
AA TAAGCCTGTC
35350 |
var(35338):[A:0.07]
CAAACAAGTC TTCAGCCATT TAGAACCTAG GGACCTCCCC ACCAAAATGC
35400
ACAAAGTTGT GCTTTTAAAG CAACTTAAAA TTAATTTCTA TGTTAATTCA
35450
GTCCTTCATG CATTCATACC TATTTATTTA TTTATTTGGA ACATTATATT
35500
GATTGCAGCA TTCATTCTAT GTACAAAACA CTATATATCA GTTTCTAAGA
35550
AACTCCTCAT CAAAGCTATT TGTTTAAGAC TTAGTTCTTG ATTTAACTTT
35600
GAATAGTTAT GTATTTATAA ATACAAAAGG ACAAACTTAG AAACAAAGTT
35650
GGGAAATTTT GTCTTTGATC ATTTGAAAAA TATCATCTGT GTATTTCACT
35700
GGTTTGTGAT AACCATGTAA CAATTAGTAC CTTTTAGATC TTTAGAGGAA
35750
TGATTTATAC ATCTCAATG
T
GCTCAACATT TTGCCTTTCT GGACAG
G
T
A
T
35800 |
var(35770):[G:0.14]
| Exon 15
V 623
T
T
C
A
A
T
T
C
T
T
A
G
A
G
A
A
G
A
G
T
G
A
T
C
T
G
G
G
C
T
G
T
G
G
G
G
C
A
G
G
T
G
G
T
G
G
C
C
T
C
35850
F Q F L E K S D L G C G A G G G L 640
A
A
C
A
A
T
G
C
C
A
A
T
G
T
G
T
T
C
C
A
C
C
T
A
G
C
T
G
G
A
C
T
T
A
C
C
T
T
C
C
T
C
A
C
T
A
A
T
G
C
35900
N N A N V F H L A G L T F L T N A 657
A
A
A
T
G
C
A
G
A
T
G
A
C
T
C
C
C
A
A
G
A
A
A
A
T
G
GTAA AATGCTCAGC ATGTTTATTA
35950
N A D D S Q E N 665
CTGAAAATCC CATTGATCAT TTGCCCCCCA GATCTCATTT TTATCCTTCT
36000
TCCCAAATAT TCTGTACCCT GATCTTAGAA TGCCA
A
G
A
C
T
A
C
A
T
A
A
C
T
C
A
36050 |
REPEAT
C
C
T
G
T
A
T
A
A
A
A
T
G
T
T
T
C
A
C
T
G
G
C
C
T
T
C
A
A
G
A
T
A
A
A
G
T
A
C
A
A
A
T
T
C
T
T
T
A
G
36100
T
G
T
A
G
T
A
C
T
C
A
A
A
A
C
C
T
T
C
C
A
T
G
A
T
C
T
T
C
G
C
C
C
T
G
G
C
T
C
T
C
T
C
C
A
A
C
T
A
G
36150
C
T
C
T
T
A
C
C
CT GCTGTGCCTT ACGTTATGTT TAAGCTCTAC AGAACCAAGT
36200
GGAGTTCTTG AGTGGCATTA TGCTATTTTG CACCTTTGGG CCTTTATTTA
36250
TTGGAATTGG TTTCCCCTTC ATTAGCCTGG AGAAGCAATG TAAGAATCAT
36300
CGCCTCTAC
A
AGACCTCTTC CCCACATAGA ATTTATAATT CCCTCCTCCT
36350 |
var(36310):[G:0.48]
TT
A
ATAGGGA GGCTATTGCA GGGACTAGAT CTATTTACAA GTTATAGAAC
36400 |
var(36353):[G:0.02]
AGCATTGTGT CATTGTGCAT TCTTACATGT AGTTGTAAGT CCTGCTCACC
36450
TACTGCATCA GGAGCTCTTT AAGGATAGTA ACCATACCTT AATCATCTTC
36500
TTTCTATGGT TTTAAAATTG TTCATAATTA TACTTGATAC TGTGGTATTC
36550
ATAGTTATAT TTGCAATAAT ATAGCACAAA GAGCAAATAA TAAAAATAGC
36600
ATACCCAACA AAAGCATCAC TCACTCTAAA TGCTTAGGTA TTTCTCTGGA
36650
ATCAGTGGAT CAGAGAGGCT GCAGGATTCA AAACCAAATT CAGATAAAAT
36700
AAGTCAAAAG ATATGACACT AGATCATGAA CTCCACTAAG ATAAAACAAG
36750
TCATATTAAG AAGTATGGTG CACAGTTCCT AATCCAAAGC AGCCCCTCAA
36800
TATTTGTTAA GGAATGACTT GTGAAGGCTC TAAATACTTA AATAGTTTCA
36850
TGGAATTTTT TTTTGAGATT TTATCTCCTT TTTAATCCTT CTTCTTTATC
36900
TTTTTTTAAA AAAACCAG
A
T
G
A
A
C
C
T
T
G
T
A
A
A
G
A
A
A
T
T
C
T
C
A
G
G
C
C
A
A
G
A
36950 | Exon 16
D E P C K E I L R P R 676
A
G
A
A
C
G
C
T
G
C
A
A
A
A
G
A
A
G
A
T
A
G
A
A
G
A
A
A
T
A
G
GTACTGTAA GATTCATGTG
37000
R T L Q K K I E E I 686
ATTGTAAAAA GGTTATGGTC ATATCATTCA AAAACTGGAC AAAATTAAAT
37050
GTTATATAAA TTCCCCTAAT TGAAATAAAA TGAATGAAAA GAAAGATATG
37100
TATGGAGGTC TAGCTTATCT CTCTCAGAAA GATTAATCCA AATAAAGTCT
37150
AGTAGTTCAT TTGCCATAGC CTTAATCTAA GGAAATAGGT CTTTATTACT
37200
TCAAGCTCTA AAATCCAAAA TATTAGCTTT TATTTGTCAT AAATATTTTC
37250
TCTCTGATAA CTTCATCTGG CAATTAAAAT CATATCCTTC CATTTTATTC
37300
TGACAAAATC CATGATTTGA CTATTTTGGG GATATACCTA GAAGTCTATT
37350
ACTTCTATTT CATATATTTA ACTGTTAGTA GCATTGTTCT TTGGAAAATA
37400
CATCTTGTGA GAATTATTTT AAAATAATTA TTTAAATGGT TATGATAATT
37450
CGTCATGTTA CTGTAGAAAG AATATCAAAC TGGGAGTCAG CAAATTGAGT
37500
TCAACTAATA TCATGCCTAT GGTAATATAA TAGTTTCTTC CA
T
TTGTATA
37550 |
var(37543):[C:0.05]
TGAGTTATTT TAATTCTAAC CTTTATTCTA AGTTCTAATG ATATGAA
A
A
G
37600 |
REPEAT
A
G
A
G
A
C
A
T
T
G
A
C
T
A
A
T
C
T
G
A
G
C
A
C
T
T
A
C
A
A
T
G
A
A
G
G
A
T
A
A
T
G
C
T
A
C
T
A
G
G
37650
T
G
A
A
G
T
C
C
A
C
A
A
A
C
C
A
T
G
T
T
A
T
A
T
A
A
G
A
A
G
T
T
T
T
T
G
A
A
A
A
A
T
A
G
G
A
T
A
T
T
37700
C
A
G
C
T
T
G
A
A
G
A
A
G
G
A
A
A
T
A
T
T
T
G
T
A
T
A
G
T
G
A
T
G
A
T
A
G
C
C
A
T
C
T
T
C
A
A
A
T
A
37750
T
T
T
G
A
A
G
G
C
T
T
C
T
T
G
G
A
T
A
T
T
T
A
A
C
T
T
A
T
T
T
T
C
T
T
A
A
A
A
A
A
C
A
T
T
T
T
C
T
A
37800
T
T
C
T
T
T
T
T
C
T
A
T
A
T
T
T
T
T
C
T
G
C
A
T
A
T
T
T
T
C
A
G
C
A
G
A
A
C
C
C
A
A
A
G
T
T
C
C
A
G
37850
T
T
T
C
A
A
G
A
G
T
T
A
G
T
A
T
T
T
A
G
C
T
T
A
A
T
T
G
C
A
G
G
A
A
A
C
C
C
T
T
T
A
A
C
C
A
T
T
T
A
37900
G
T
G
T
G
A
G
C
T
G
G
A
A
T
G
G
A
C
C
A
T
T
T
G
G
T
A
A
G
G
T
C
A
C
A
T
T
C
T
C
C
C
C
A
T
T
C
T
T
A
37950
G
A
A
T
A
G
T
T
C
C
A
A
G
G
G
G
A
G
T
C
T
G
G
A
C
A
G
T
C
A
A
C
T
A
G
C
C
A
T
A
A
C
T
A
T
T
G
T
G
G
38000
G
T
A
G
G
G
G
G
A
T
C
A
T
A
T
A
G
C
A
A
C
A
G
A
A
A
C
C
A
G
G
T
A
T
C
C
C
T
T
G
A
G
A
T
T
C
C
T
T
C
38050
T
A
A
G
C
C
T
G
A
G
A
T
G
T
T
A
T
C
A
C
T
C
T
GCGTCAT CAAGAGCACT TGCATTATTA
38100 |
var(38068):[G:0.14]
CCATTTCAG
C
T
G
C
T
A
A
A
T
A
T
A
A
A
C
A
T
T
C
A
G
T
A
G
T
G
A
A
G
A
A
A
T
G
T
T
G
T
T
A
C
38150 | Exon 17
A A K Y K H S V V K K C C Y 700
G
A
T
G
G
A
G
C
C
T
G
C
G
T
T
A
A
T
A
A
T
G
A
T
G
A
A
A
C
C
T
G
T
G
A
G
C
A
G
C
G
A
G
C
T
G
C
A
C
G
38200
D G A C V N N D E T C E Q R A A R 717
G
A
T
T
A
G
T
T
T
A
G
G
G
C
C
A
A
G
A
T
G
C
A
T
C
A
A
A
G
C
T
T
T
C
A
C
T
G
A
A
T
G
T
T
G
T
G
T
C
G
38250
I S L G P R C I K A F T E C C V 733
T
C
G
C
A
A
G
C
C
A
G
C
T
C
C
G
T
G
C
T
A
A
T
A
T
C
T
C
T
C
A
T
A
A
A
G
A
C
A
T
G
C
A
A
T
T
G
G
G
A
38300
V A S Q L R A N I S H K D M Q L G 750
A
G
G
C
T
A
C
GTA AGTATGACAT TTTCTATCAG AATTCTGCTC AATATGGGGA
38350
R L 752
ATTTTGTGTA ATTTTATGCT GCTAAGAAAG GCAGTTTTCA TGATCTATTT
38400
AGAATTGAAA
G
TAGAAAAGA TAACTTGTAA ATGTCCATAA GAAAAAAAAA
38450 |
var(38411):[A:0.01]
A
TCCTTCATT TTTGGGCATC CGAAGAGGTA CAGTA
C
A
G
A
G
C
A
G
A
G
T
A
C
A
C
38500 |
var(38451):[:0.86]
|
REPEAT
T
A
G
G
C
C
A
G
A
G
T
T
A
A
G
A
C
C
T
G
G
C
A
T
A
A
C
C
T
T
A
A
A
G
C
C
A
A
G
T
C
A
T
C
C
C
A
T
A
A
38550
A
C
T
T
G
A
A
T
G
A
T
T
A
T
T
T
A
T
C
C
T
C
T
C
T
G
A
G
C
C
T
C
A
T
G
C
A
A
G
G
A
G
C
T
T
C
G
A
C
C
38600
A
G
A
T
C
C
T
C
T
C
C
A
A
T
A
T
G
C
C
T
G
T
G
A
G
T
T
C
T
A
C
A
A
G
T
C
T
A
C
G
C
T
T
T
T
G
T
G
A
T
38650
ATTACAACCA TTAAAAATTC TGTCTATATC TACATTGATG AAATAAAG
G
A
38700 |
var(38699):[C:0.34]
GAATATTTCT AAATCTAGCC TAAGGTTAAG TGTACTTATA TAAAAGCTGA
38750
TGTCTTATTT CAGTTTCAAC CACAATACAT GTTTCCAGAA TTTATAGAAC
38800
TCTCATTAAC ATGTTTTCAG AACTTTTAGG ACTTTATATA TAGTC
T
T
T
T
T
38850 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
C
A
G
T
A
G
G
A
A
T
C
T
G
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
38900 |
var(38886):[T:0.02]
G
T
G
G
T
G
C
A
A
T
C
T
T
G
G
C
T
T
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
38950 |
var(38946):[T:0.14]
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
A
C
T
G
G
G
A
T
T
A
A
A
G
G
C
G
C
C
T
G
C
C
A
C
C
A
C
39000 |
var(38999):[G:0.02]
A
C
C
T
G
G
T
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
G
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
A
T
T
G
G
39050
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
T
C
C
A
C
C
T
C
G
G
C
C
T
39100
C
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
A
G
C
C
TATGTAT
39150
AGTCTTTAAC AAAACAAGCA AAAGCAAAAT GACAGCTTCT GTTTTATACT
39200
TATG
T
G
T
G
C
T
G
C
G
T
A
A
T
G
A
C
A
T
T
T
T
C
A
T
C
A
A
T
G
A
T
G
G
A
C
C
A
C
A
T
G
T
G
C
A
A
39250 |
REPEAT
C
G
G
T
G
A
T
C
C
T
A
T
A
G
G
A
T
T
A
T
A
A
T
A
C
C
G
T
A
T
T
T
T
T
T
C
T
G
T
A
C
C
T
T
T
C
C
T
G
T
39300
G
T
T
T
A
G
A
T
A
T
G
C
T
T
A
G
A
T
A
C
A
C
A
A
A
T
A
C
T
T
A
T
C
A
T
T
G
C
A
T
T
A
C
A
G
T
T
G
T
C
39350
T
G
C
A
G
T
A
T
T
C
T
G
T
T
C
A
G
T
A
A
C
A
T
G
C
T
G
T
A
C
A
G
G
T
T
T
G
T
A
G
C
C
T
A
G
G
A
G
A
A
39400
A
T
A
G
G
C
T
A
T
A
C
T
A
T
A
T
A
G
T
C
T
A
G
A
T
C
T
G
T
A
G
T
A
A
G
T
T
A
T
A
C
C
A
T
C
T
A
G
A
T
39450
T
A
G
T
G
T
A
A
G
T
A
C
G
C
T
C
C
A
T
G
A
T
G
G
T
T
A
C
A
C
A
A
C
A
A
A
A
T
C
A
T
C
T
A
A
C
A
A
C
A
39500
T
A
T
T
T
C
T
C
A
G
A
A
C
A
T
A
G
C
C
C
T
A
T
T
G
T
T
A
A
G
C
A
A
TATCTAA TAACCATAAT
39550
TTTGGTAAAT GGCCACAAA
A
TTTATGTTTG TAGAAATATA TTCATTGAGA
39600 |
var(39570):[G:0.07]
TGTACAGTGT CTAAGATTCA GATTG
T
T
T
T
C
C
A
A
T
A
T
T
T
G
T
T
T
T
G
C
T
T
T
G
T
39650 |
NOT SCANNED
|
REPEAT
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
A
G
A
G
A
C
A
G
A
G
T
T
T
T
G
T
T
T
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
39700
G
T
G
C
A
A
T
G
G
C
G
C
A
G
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
39750
G
C
A
A
T
T
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
A
T
T
A
C
A
T
G
C
A
C
C
T
G
C
39800
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
A
A
T
A
T
T
T
G
C
T
T
A
T
T
A
T
A
A
G
C
A
G
A
A
T
T
T
T
A
A
T
A
A
39850
A
C
A
G
T
C
T
A
G
T
C
C
A
T
A
T
G
T
T
G
T
T
T
T
T
C
T
T
T
T
T
G
G
A
G
G
G
A
G
G
A
T
T
T
G
G
C
T
T
T
39900
T
T
T
T
T
C
T
C
T
T
A
A
T
T
T
T
T
T
T
T
A
A
T
T
T
T
T
A
A
A
T
T
T
A
T
G
T
G
G
G
T
A
A
A
T
A
G
T
A
T
39950 |
REPEAT
T
T
A
C
G
G
G
G
T
A
C
A
C
G
A
G
A
T
A
C
T
T
T
G
A
T
A
C
A
G
G
A
A
T
G
C
A
A
T
A
A
G
T
A
A
C
A
A
T
C
40000
A
T
A
T
C
A
T
G
G
A
A
A
A
T
G
G
G
G
T
A
T
C
T
A
T
C
C
C
C
T
G
A
G
G
T
A
T
T
T
C
T
C
C
T
T
T
G
T
T
T
40050
T
A
T
A
A
A
C
A
A
T
C
C
A
A
T
T
A
T
A
C
T
C
T
T
T
T
A
G
T
T
A
T
T
T
T
T
A
A
A
T
G
T
A
C
A
A
T
T
A
A
40100
A
T
T
A
T
T
A
T
T
G
A
C
T
G
T
A
G
T
C
A
C
C
C
T
G
T
T
G
T
G
C
T
G
T
C
A
A
G
T
A
C
T
A
A
G
T
C
T
T
A
40150
T
T
C
A
T
T
C
T
T
T
C
T
A
T
T
T
T
T
T
G
T
A
C
C
C
A
T
A
A
A
C
C
A
T
C
C
C
C
A
C
A
T
C
C
C
C
C
T
C
A
40200
T
C
C
T
C
C
T
A
C
T
A
C
C
C
T
T
C
C
C
A
G
C
C
T
T
C
T
A
C
T
C
T
A
T
A
T
C
T
C
C
A
T
A
A
G
T
T
A
A
A
40250
T
T
G
T
T
T
T
G
A
T
T
T
T
T
A
G
C
A
C
C
C
A
C
A
A
A
T
A
A
G
T
G
A
G
A
A
C
A
T
G
T
G
A
A
T
T
T
T
G
T
40300
C
T
T
T
C
T
G
T
G
C
C
T
G
A
C
T
T
A
T
T
T
C
A
C
T
T
A
A
C
A
T
A
A
T
G
A
C
C
T
C
C
A
G
T
T
C
C
A
T
C
40350
C
A
T
A
T
T
G
T
T
G
C
A
A
A
T
G
A
C
A
G
G
A
T
C
T
C
A
T
T
C
T
T
T
T
C
A
T
G
G
C
T
G
A
G
T
A
G
T
A
C
40400
T
C
C
A
T
T
G
T
G
T
A
T
A
T
G
C
A
C
C
A
C
A
T
T
T
T
C
T
T
T
A
T
C
C
A
T
T
T
A
T
C
T
G
T
T
G
A
T
G
G
40450
A
C
A
T
T
T
A
G
G
T
T
G
C
T
T
C
C
A
A
A
T
C
C
T
G
A
C
T
A
T
T
T
T
T
A
A
C
A
G
T
G
C
A
G
C
A
A
C
A
A
40500
A
C
A
T
G
G
G
C
G
T
G
C
A
G
A
T
A
T
C
T
C
T
T
C
G
A
T
G
T
A
C
T
G
A
T
T
T
T
C
T
T
T
C
T
T
T
T
G
G
G
40550
T
A
T
A
T
A
C
C
C
A
G
C
A
G
T
G
G
G
A
T
T
G
C
C
A
G
A
T
C
A
T
A
T
G
G
T
A
G
C
T
C
T
A
T
T
C
T
T
T
G
40600
T
T
T
T
T
T
A
A
G
G
A
A
C
C
T
C
C
A
A
A
C
T
G
T
T
C
T
C
C
A
T
A
G
T
G
T
A
T
A
G
T
A
A
T
T
T
A
C
A
T
40650
T
C
C
C
C
A
C
T
A
A
C
A
G
T
G
T
A
C
A
A
G
A
G
T
T
C
C
C
T
T
T
T
C
T
C
C
A
C