THBS4 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
ACTCTGTTTC CTCATCATTC AGCAGCATGT TGGGGATCCT GCGGCTGATG
50
GGGAACACAC GTCCAGACTC TGGGCACTGC AGGGTGCCCT CCAACACATC
100
TACCTCCAGC AGCACGTGGT GCATTGTCCT CACCATGGAG ATTCCT
A
G
C
A
150 |
REPEAT
A
A
T
A
C
T
C
T
A
G
G
T
A
T
T
T
T
A
A
A
T
A
G
A
A
G
A
A
A
T
T
T
A
A
T
A
C
A
G
G
G
A
A
A
T
G
A
T
T
A
200
C
A
T
A
T
A
T
A
G
T
A
G
A
A
G
A
A
C
T
G
A
G
A
T
G
T
C
A
A
A
C
A
G
A
A
G
A
G
T
G
A
G
G
C
A
A
T
C
C
A
250
C
A
T
T
T
T
A
G
C
A
A
C
T
G
C
A
G
T
A
A
G
T
G
A
C
C
T
C
C
A
A
T
G
T
C
A
T
G
G
C
T
G
G
A
G
G
G
T
G
C
300
A
A
A
T
G
G
T
G
A
G
A
A
G
G
C
A
G
A
A
G
C
T
A
G
A
A
T
C
A
T GGTGGACCCC ACCTGCAAGA
350
GTCACAAAGA AGATGCATCC ATTCAGGTCA CAGAGAAGTA AATACTCTAG
400
TGTCTACCTT CTACCTTCTT ATTGCTCTCT AGTCTCCCAT TTTATCTAGA
450
CTGCTGACAA GCATGCAGTG GAAGGTGAGC ACCAGATCTG AGAGGAAACA
500
GGCAGTGTCT GGTGGCACAC TACACAAGAA CTCTCACAGG CATCC
A
CTAG
550 |
var(546):[G:0.32]
GCTTGCTTGG TGACTCATTT AAGGAGTAAC CCTATTTTAT GTATCAGAGT
600
AGTCTATGGT GTGATATAGC ATATTGCTGC TTTTGATGTT TGGTTTCATT
650
TGTTCCCTGT AGGCACCTA
A
T
C
A
C
T
G
T
T
T
T
T
T
A
A
A
T
T
C
C
C
C
A
G
G
A
G
A
T
T
C
700 |
REPEAT
T
G
G
T
A
T
A
C
C
C
A
A
T
C
A
G
C
T
G
A
G
A
A
C
C
A
C
T
G
A ATAGTGGCTT TCAAAATTTT
750
GAGCATCCAA ATA
T
TGTCTT CACAGAAAAT CTTAATCTCT GAAGTCTACT
800 |
var(764):[C:0.01]
GTAAAAACAT AGAAAGGCAA GGCTGTTCTG CTTGAAGC
A
T AGCTTGGGAG
850 |
var(839):[G:0.41]
CCTAGATTCC TCTCAAACCC AGGCCACTCC TGGGAACATG GTCTGGAGAT
900
TTGAATGTTC CCAAATC
T
A
G
T
T
T
A
T
C
T
C
A
T
T
A
G
T
C
G
A
T
A
T
T
T
A
T
G
C
A
C
A
T
950 |
NOT SCANNED
C
C
T
C
T
G
T
G
T
C
T
C
T
C
A
G
T
G
T
T
C
T
C
T
C
A
T
G
T
G
T
A
G
A
C
A
T
A
T
G
C
C
C
C
A
T
T
C
C
A
1000
A
A
G
A
G
T
G
A
C
T
G
T
A
G
T
G
T
A
A
T
G
T
G
G
C
A
T
T
A
A
A
G
G
A
A
C
C
C
T
G
G
A
T
A
G
A
C
C
T
G
1050
T
A
T
T
G
G
A
C
C
T
T
A
C
A
T
A
T
T
A
G
A
G
A
G
C
T
C
T
G
C
A
G
A
T
A
G
C
T
C
A
C
A
A
A
T
C
T
C
C
A
1100
A
G
T
C
G
C
T
A
G
C
T
G
T
A
A
A
T
T
G
A
G
T
G
A
T
A
A
T
T
G
G
T
G
T
C
A
G
G
T
T
A
T
T
T
T
A
G
C
A
C
1150
A
G
T
T
T
G
G
G
G
A
T
A
A
A
A
T
G
G
T
G
C
A
T
T
A
A
T
C
T
C
C
C
A
G
T
T
T
G
T
G
G
C
T
T
A
T
T
A
A
A
1200
C
T
T
T
G
A
A
A
T
G
G
A
A
T
T
A
T
T
T
G
A
G
A
C
A
T
A
A
A
A
G
A
G
A
T
A
G
C
A
A
T
A
C
T
T
T
G
C
T
G
1250
G
A
T
G
T
T
C
T
C
C
A
T
T
A
G
T
C
G
A
G
A
T
T
G
T
T
A
C
A
G
A
G
G
A
G
A
A
A
T
T
T
T
T
G
C
C
A
C
T
G
1300
T
T
T
A
T
C
A
A
A
T
A
T
T
T
T
T
T
C
C
T
C
T
A
G
T
T
A
A
T
C
C
A
T
A
T
C
A
T
T
C
C
G
G
G
A
G
C
T
T
T
1350
G
C
C
C
A
G
G
A
A
A
A
G
G
A
C
G
A
A
T
T
A
C
T
T
G
C
G
T
T
C
C
T
C
C
G
A
T
C
T
C
T
T
T
C
A
A
G
T
T
C
1400
T
A
C
T
C
C
C
G
T
A
C
C
T
T
T
A
A
A
C
T
G
T
C
A
C
A
C
G
G
A
A
T
C
T
T
T
G
G
T
G
A
C
A
G
A
G
G
A
A
T
1450
A
G
A
G
G
T
G
G
G
C
A
A
G
C
A
G
G
G
C
G
T
T
T
G
G
A
A
A
C
C
A
T
A
C
T
G
A
A
A
A
C
G
A
A
T
T
A
T
C
C
1500
A
T
A
A
A
G
C
A
C
A
G
A
T
T
C
A
C
C
A
G
C
C
T
A
G
A
A
A
T
G
G
C
T
C
T
G
T
C
T
G
G
A
T
G
G
A
T
T
C
C
1550
T
T
G
A
G
A
T
G
T
G
T
T
T
T
A
T
C
T
C
C
A
T
T
A
A
A
A
A
C
A
C
A
A
C
A
A
C
T
T
T
C
A
A
A
C
T
T
T
C
A
1600
C
T
G
T
G
T
C
T
C
A
A
A
A
T
G
A
T
A
G
A
G
A
A
A
A
A
A
A
T
T
C
A
G
C
C
T
T
T
C
A
A
G
T
A
T
T
C
A
A
G
1650
A
A
A
A
G
C
T
T
G
A
A
G
A
A
A
T
A
A
A
A
G
A
A
A
C
T
C
G
C
T
G
C
T
C
T
C
T
G
G
G
C
C
A
C
T
T
T
A
G
G
1700
A
G
G
C
A
G
A
G
C
G
T
T
C
C
T
G
G
A
G
A
A
C
T
T
C
A
G
G
A
T
T
C
A
T
T
C
G
C
A
A
G
G
G
A
A
C
C
C
A
A
1750
G
G
T
G
G
G
C
A
T
T
C
A
A
A
G
C
C
G
A
T
C
C
A
A
A
G
G
A
T
A
T
T
C
T
T
C
T
T
T
T
T
A
G
A
A
A
A
C
A
A
1800
A
A
G
G
A
G
C
G
C
A
A
G
G
A
G
T
A
G
G
G
G
A
C
T
G
A
A
G
G
T
G
C
C
C
A
A
A
G
C
T
A
G
T
G
G
G
T
C
A
G
1850
T
G
T
C
A
C
T
T
T
C
T
T
C
C
T
C
C
C
T
T
T
C
G
C
C
C
C
T
T
T
C
C
T
C
C
C
G
C
T
C
C
T
T
T
C
T
C
C
C
C
1900
T
G
T
G
G
T
C
T
C
T
G
C
T
C
A
G
C
A
C
C
C
C
T
T
T
C
T
C
T
C
C
A
G
C
C
C
C
G
A
C
T
G
C
C
C
A
T
C
T
T
1950
C
G
C
C
C
C
T
ACC CTCGCGCGTC GGGGCCGTGT CTACACCCAC CCCAGGAC
C
T
2000 | Exon 1 |
UTR
G
G
T
C
C
G
T
C
C
A
G
G
C
T
C
C
T
T
C
C
C
A
T
C
C
T
C
A
C
A
C
C
C
G
C
G
C
C
T
T
T
C
T
C
C
C
T
G
C
G
2050
G
C
C
C
C
G
G
C
T
C
G
C
T
G
C
T
C
C
A
G
C
T
G
C
C
C
A
G
C
T
C
T
T
C
C
C
A
G
G
A
C
A
G
G
G
G
A
T
C
C
2100
C
G
C
C
A
A
G
G
G
G
G
C
C
G
C
C
C
C
C
G
C
C
C
C
G
G
C
C
C
T
C
C
C
C
C
G
C
C
C
G
G
C
C
G
C
A
C
C
A
T
2150
A
A
A
G
C
G
C
C
C
G
G
C
C
G
C
T
G
C
C
G
C
G
G
A
G
C
C
C
A
G
C
A
G
C
C
A
G
C
T
C
C
C
C
A
G
C
A
C
C
G
2200
C
G
C
G
G
C
G
G
G
G
A
C
G
C
G
A
G
C
G
C
G
C
C
C
C
C
G
A
C
G
G
C
A
G
C
C
C
G
G
A
C
G
C
C
G
A
G
C
A
C
2250 |
var(2202):[A:0.01]
G
G
G
T
C
A
C
C
T
G
C
G
G
C
G
C
C
G
G
C
C
C
G
G
G
C
G
C
C
G
A
C
C
G
A
G
G
T
T
C
A
A
C
G
C
A
C
G
G
C
2300 |
var(2272):[T:0.04]
C
C
G
G
G
G
A
C
C
C
C
C
A
G
G
C
G
G
G
G
C
C
A
A
C
G
C
C
G
C
C
G
T
C
G
C
C
C
C
C
G
G
C
C
T
C
G
C
G
G
2350
G
G
A
G
C
A
G
G
A
A
G
A
G
C
C
A
A
C
A
T
G
C
T
G
G
C
C
C
C
G
C
G
C
G
G
A
G
C
C
G
C
C
G
T
C
C
T
C
C
T
2400
M L A P R G A A V L L 11
G
C
T
G
C
A
C
C
T
G
G
T
C
C
T
G
C
A
G
C
G
G
T
G
G
C
T
A
G
C
G
G
C
A
G
G
C
G
C
C
C
A
G
G
C
C
A
C
C
C
2450
L H L V L Q R W L A A G A Q A T 27
C
C
C
A
G
G
GTAA GTGGGTTCGG GTCGGGCCTG GGAGCGCCGG GCACCGGGTG
2500
P Q 29
CCCCATCTGC TGAGTGAGTG GAGGGACTTG CTCGGCCCTG TGCTC
C
TGTG
2550 |
var(2546):[T:0.05]
GCCTTGCTCA GCCCCTCTCT GTCCCTCCCG GGCCCAATCA AAGCATATTG
2600
TGATTGGAGG TAGTGATTAG TCTAGAATTT TCCGAAATTC GATTATCCAA
2650
TGATGAGAAC AATTGCCTAA ATAGTTGGGG GATGCAAAAT TGTTTCAGAC
2700
TATGCAAAGA TGTGGGGTGG GGTTGCCTTC AAAACTTGCT ACACGGTCCT
2750
AGACCTCTTA ACATGTTAGG CTCTGGTGTA GGGTGAATTC CGGGTCCTGC
2800
ACCCTGTGCC GGTTCCCTCC AGGCAGCCTT GCTCCCTAAA TCCTTCCTCA
2850
GGCGGAGCGA TGTATGCCC
A
GAGTCTGCTC TTGACATCCC TGAGAAAGAC
2900 |
var(2870):[G:0.03]
GCAGAATTAC TCTACTTGCC CTGCCACCTG CATTTTCTGC TCTGACTTTG
2950
CTTGAACGAC AAAAAGAAAG TTTATTTCAA GGATTGGCTT GATGTCTTAA
3000
TTTCTGAGGT AAATAGGAAG GGCTGAGAAA CTGGTCTTTT TC
A
A
T
G
A
A
A
T
3050 |
REPEAT
C
A
G
T
T
C
T
T
T
G
C
A
G
C
A
A
G
A
T
G
G
A
T
G
C
A
G
C
T
G
G
A
G
G
C
C
A
T
T
T
T
C
C
T
A
A
G
T
G
G
3100
A
T
T
A
A
G
G
C
A
G
G
A
A
C
A
G
A
A
A
A
G
C
A
A
A
T
A
C
C
A
T
G
T
T
C
T
C
A
C
A
A
G
C
G
G
G
A
G
C
T
3150
A
A
G
C
A
G
T
G
G
A
T
A
G
A
T
A
T
G
G
A
C
A
T
A
A
A
G
A
T
G
G
A
A
A
C
A
G
T
A
G
A
C
A
C
T
G
G
G
G
A
3200
C
T
C
C
A
A
A
A
G
T
A
G
G
G
G
G
G
A
A
G
G
T
T
G
G
G
A
A
A
A
C
T
A
C
C
A
A
T
T
G
G
G
T
A
C
T
A
C
G
T
3250
T
C
A
C
T
G
G
G
T
G
A
T
G
T
G
T
T
C
A
C
T
A
G
A
A
G
C
T
C
A
A
A
T
C
C
C
A
C
C
T
T
A
T
G
C
A
A
T
G
C
3300
A
C
C
C
A
T
G
T
A
A
C
A
A
A
C
T
T
G
C
A
C
A
T
G
T
A
C
C
C
T
C
T
G
A
A
T
C
T
A
T
A
A
T
T
T
A
A
A
A
A
3350
G
A
A
A
A
A
A
G
A
A
A
G
A
AATTGAT CTTT
T
TCTAT GAAA
C
GGTAA AAATTCAACA
3400 |
var(3375):[G:0.02]
|
var(3385):[A:0.02]
AATAATGTGA AAAGATACTT GGACAATCCT CAAACCCCTT GGTGAAATGG
3450
GGTGAAATAG CCATTGGGTA GAAA
G
C
AGTT AAACAGAATT TTTTGTAAAG
3500 |
var(3475):[A:0.02]
|
var(3476):[A:0.01]
ACCAAAAGGA AGACATGATT TAAGCAAAGA AAGATCTTAG GGCTATAACT
3550
GGCCCTAACT GGTCAGGCGT GAGCTTCATC TGTTTGAACT TGGTGCCTGG
3600
GTTGATTTAT TACTGACTGT GGAAGTAAAA CTGGAAGAGA CGCACAACTT
3650
GAAGTAAAAG TTGTTTTTCC TCTTGTAGCC AGAGCAAAGA CTGCCTATGA
3700
GGGCGTTCTC AACTTCCCTG CCTCTCGCTG CTGGAATCAC CCATTTAAAC
3750
TGCATTTCGC CAAATAACTC ATTTTCATTC CAGACCAGAC AACCAGAACT
3800
GTGGTTTCAG GGGTTAGAGT ACTGCTAACT TTTAGTTTGT GTTGAAGTAT
3850
TTGAAATGCT GTAGTCCGTG CCCCATACTT CTAGGAAGGT AAAAAAGGAA
3900
GCTTTTAAAC ACTTCAAAAG TCTTATTGTG ATGATATTTG GCAAGTTCAA
3950
ATTTATAGGT ATAATTTTTT TGTGTTATAT ACGTTCTTGA CTTTTGAACA
4000
TACAGCTTTA TGGTGTGCCT TAGGTATGTC TCAGACATAC CTGACCATTT
4050
TATGGAGATT TGAACTCGGC CTATACAACC TAAATTATCT GGGTAATTTA
4100
GTTGCTGTAG ATGATCTGAT TAAGTTAAGT TTCTGATAGA TTCTTTTATT
4150
GCATTATCTA GTCTGCAATT ATCAGGCTTA ACAGGATAAT TTGATTATCT
4200
CCTTCTTCCC CTGAGCTTCA TTGTTGGTCT TAAATTAGTA TATATTCAAT
4250
TTACATACCA TGGTAGCTGC
G
CTCATTGGT AGCAGTAATT TCACCTCTAA
4300 |
var(4271):[A:0.05]
CAGTAGAGGG TTGTGCTTTG ATCCTGGCAC TTAAACGTAA TAACATTAAT
4350
AGAAAATGGT AGTGTCTCAT TTCCTTTTCA AAACACTCTC TA
T
GTTCATT
4400 |
var(4393):[C:0.01]
ACTAACTAAT CCCATCTCTG CC
T
CTTGAGA GAGATGCAAA TGAATCAGAC
4450 |
var(4423):[G:0.43]
GAACCATAGA TTGAAATACC GCAAGTTTAG CTTGAGTTAC ATCATGAACC
4500
TGATCATAGT CAAAGGAAGA ATCAAGAGTA CTAAGAATTT TGTTTTGAAT
4550
GTAGTTCCCA TACTTTAAAT ACATATCTCT TTTCTGAAGA TGTTTTGTCC
4600
TGAATGGAAC TTTAAAACAT ATTGCCTTAT TTCCCTTTGC CCTCATTAGT
4650
GGAAATGTAA AGTTTCCAAT TCTCTTGAAA ATTAAAAAAT CCAATTTCCC
4700
TTTTGAAATG CAGTAGGCAA CAGTGTTTAT GGTTTAGGGA TATAGGCACT
4750
AAGAGGAGCA CAGTAAATGT TCTGCTTTCC AACACATCTC ATGTTAATTT
4800
CATTATTGTG TAAGGACCCC TGGTACATGT GAAAAATACA GTATAGATCC
4850
AGTTTGAAGA CAAATTGTCT TTTAAAAGGG GTAAATATTC TTGAGTAACT
4900
AGGTTTTTGC CTGTTTGCTT TAGAACTTTT ATTCA
T
T
C
T
T
A
T
T
A
C
A
A
A
A
G
4950 |
REPEAT
C
A
A
T
A
C
C
T
G
C
C
C
A
T
T
G
T
A
G
A
A
A
A
G
A
T
T
A
A
A
G
T
T
A
G
A
T
A
A
G
C
A
A
A
A
A
A
T
A
A
5000
A
A
T
A
A
A
A
A
G
A
A
A
A
G
A
G
G
A
A
A
T
T
T
A
A
A
A
C
T
T
A
T
A
T
T
T
A
T
G
C
A
A
C
C
C
G
G
G
G
A
5050
T
A
G
C
T
T
C
T
A
T
T
A
A
C
A
T
T
A
A
C
A
T
G
T
T
G
T
T
G
T
A
T
T
G
T
C
T
T
T
C
A
T
T
T
C
A
A
A
T
A
5100
T
T
T
T
T
C
T
A
T
G
C
A
A
A
A
A
T
A
T
A
T
T
T
C
A
A
A
T
G
G
A
A
T
T
A
C
G
T
T
A
T
A
C
A
T
A
T
A
G
T
5150
T
T
T
A
G
A
A
T
C
C
T
T
T
T
T
T
C
T
T
A
A
T
G
T
A
T
C
A
T
G
A
A
C
A
T
C
T
T
T
T
C
A
C
A
T
C
T
G
T
A
5200
A
G
T
A
T
T
C
A
G
C
T
A
C
A
T
T
T
T
A
A
A
A
A
T
A
G
G
T
A
G
T
A
T
T
C
T
G
C
T
T
T
T
T
G
G
A
A
G
A
A
5250
T
C
A
A
A
A
T
G
T
A
T
T
T
A
G
C
C
A
G
G
G
T
T
G
T
A
A
T
A
T
A
G
A
A
C
C
C
T
T
A
A
G
T
T
G
T
T
T
T
C
5300
G
G
T
T
T
T
G
A
T
A
T
T
G
T
A
A
A
T
A
T
T
A
A
T
T
T
A
T
T
G
A
A
C
A
AGTGCA GGTGTCACAG
5350 |
var(5301):[A:0.30]
GATGGTTTGG GATGAGTTTA ACCATCCCCT CAATCTCAGC CAAGCCCTTC
5400
TCTTTTTTTT TGCTAAGGAC AGTTAATGTT TTCATAGCAA AATGCTATGC
5450
CAACAGAGCT CAGGTTTACC TCTCTTCCAA TTAGATTTTC ACCTAATTCT
5500
TTCCTAAATA GAAATTCTAG AATTACCACT AGTGTCT
A
A
T
A
T
T
C
T
T
G
T
A
C
5550 |
REPEAT
C
T
A
A
A
T
C
A
T
T
T
A
C
C
A
T
G
T
T
A
T
C
C
A
T
T
A
T
T
T
C
C
C
T
A
G
G
A
T
A
A
A
T
T
C
C
C
A
T
A
5600 |
var(5596):[T:0.22]
A
G
C
A
G
A
A
T
T
G
C
T
A
G
A
T
C
A
A
G
G
A
G
C
A
C
A
T
A
T
G
T
T
T
T
A
G
G
G
C
C
T
T
T
G
A
T
A
C
T
5650
G
T
T
G
T
T
T
A
A
A
C
T
G
T
C
T
T
C
A
A
A
A
T
G
T
T
T
A
T
A
C
T
A
G
T
T
T
A
A
A
T
G
T
T
A
C
A
C
A
G
5700
T
G
G
T
A
C
A
G
A
G
A
G
T
G
C
C
C
A
T
T
T
C
C
C
T
G
A
A
C
C
C
T
C
A
C
A
A
A
C
A
G
T
T
G
A
G
T
A
C
T
5750 |
var(5710):[C:0.01]
G
T
T
G
T
A
T
T
T
A
C
T
A
A
T
T
T
T
C
C
A
A
T
T
C
G
A
T
G
G
T
G
A
A
A
A
C
A
A
T
A
C
G
T
T
A
T
T
G
T
5800
T
T
A
A
G
T
T
A
G
C
A
A
C
T
C
C
T
G
C
A
T
C
A
T
T
A
G
G
T
A
A
A
T
A
C
A
T
G
A
A
C
A
T
T
T
A
T
T
T
A
5850
T
A
T
A
C
T
T
A
A
T
G
G
T
C
A
T
T
G
T
A
A
T
T
C
T
T
T
T
T
A
T
G
T
A
A
A
T
T
G
C
C
T
T
T
T
C
A
T
A
T
5900
T
C
C
T
T
G
C
C
C
A
T
T
T
T
T
C
T
A
T
T
A
A
G
A
T
G
C
T
T
A
T
C
A
T
T
T
T
A
T
T
G
A
T
T
T
G
T
A
A
G
5950
A
A
C
T
C
T
T
T
A
T
CAATTGTCAA TATTACCCA
T
TTAATAACCA GATTATTATA
6000 |
var(5980):[C:0.32]
TCCAAGAGAC AGCTGTAGGT GCTGAAGTTT CTGCAGCCTA TGGAATTGTT
6050
CAAATGATAT TTGCGTCTGC TAATAGATAT ACTAAATAAC TTCCACTGAG
6100
TATTACCCAA ATTTGGCCTT TGCCTTTTAA ATGACTCTGG GCATACTCTC
6150
TCATAGCTTT CATAAATATT ACAAAGTTTG TGAGAGAAAG TACTGCTTGC
6200
TTGATCAAAA GCAACTTATA CAAATACAAA TGCAGATTCT GATTTTTGTA
6250
GAGCAATTCT ATCAGTCAAG AGAC
A
GAAAC CACATCATTT TGTTTTGTTT
6300 |
var(6275):[G:0.03]
TGTTTCCACA TTGGGATTTT TTTAAACAGA GAAATGTTGG AGAATTGTAA
6350
AGGCACAAAG GGAACACTTA GGTCTCACAA AGGTGGCAAA TCACTTTCTA
6400
CCAGCACATC TACCACCATA GCCATGTTTT CTGCTGCATT TCCTGTCATT
6450
TGTCACTGAC CAGGAAAACA CAATTGGCTC TGGTCCTGGA GGTGCCTATG
6500
GGACTCCGTG ACAGAAATTC ACTGCTTGGG GACATCAGTA AAGCAATGGC
6550
TTGGATGCTT TCACCAGTCC CCCTTGTACT TTAAGCCTTT AGTGCTTTTC
6600
CTGGTGGGCA TTTTCAGAGC TACTTGTTCA GCCAAACCCA ATTATGTGTT
6650
TGCAAATTCA GTCCTCTCTC TTGAGGGCTA CACCCAGTGA TGAATATTGT
6700
GCTGTATTTC TTCTGGCTCA AATGTCCAGC CACTATAAAA GTGACAGGGA
6750
AGAACTGGTG AGTTTGGCAA TACGGAAAAG GGATTACAAG ATTAGTTTAC
6800
ATTACTTTGT AGCTTACTGT CAAATTGCAC CCCCCCCAAA CAAAGAAACC
6850
CTGTTTTCCC CAAAATTGAA TCTTTCACTT ATACCCCTTC TTCTCCCTTC
6900
TTCCCAG
T
C
T
T
T
G
A
C
C
T
T
C
T
C
C
C
A
T
C
T
T
C
C
A
G
T
C
A
G
A
G
G
C
T
A
A
A
C
C
C
A
G
G
6950 | Exon 2
V F D L L P S S S Q R L N P G 44
C
G
C
T
C
T
G
C
T
G
C
C
A
G
T
C
C
T
G
A
C
A
G
A
C
C
C
C
G
C
C
C
T
G
A
A
T
G
A
T
C
T
C
T
A
T
G
T
G
A
7000 |
var(6983):[A:0.01]
A L L P V L T D P A L N D L Y V 60
T
T
T
C
C
A
C
C
T
T
C
A
A
G
C
T
G
C
A
G
A
C
T
A
A
A
A
G
T
T
C
A
G
C
C
A
C
C
A
T
C
T
T
C
G
G
T
C
T
T
7050
I S T F K L Q T K S S A T I F G L 77
T
A
C
T
C
T
T
C
A
A
C
T
G
A
C
A
A
C
A
G
T
A
A
A
T
A
T
T
T
T
G
A
A
T
T
T
A
C
T
G
T
G
A
T
G
G
G
A
C
G
7100
Y S S T D N S K Y F E F T V M G R 94
C
T
T
A
A
A
C
A
A
A
G
GTAAGCAAA TTTGCTGAAA TTATTTTCTT AAAAATCTCC
7150
L N K 97
TTTTTCTATT CCAGGATTAG GGGTATACTG TCTTTGAGAT GGTTTCCTTG
7200
TACAATTATA TTCTCACTCA CTAGTCATTT CAGTTTTTAA TACTGAATTC
7250
TTCTTACTGT ACATTTACCT ATATTGGCGG GGGG
G
TGGGG GGCGGTTCAG
7300 |
var(7285):[:0.36]
GAAGAAAGTG ACATTGGGAG AAAAAAAGAA TTGCTGTGAC CAAGATGCTT
7350
TTTGACATTG TCTCATCCTG ATGTTATTCT GAATCCAGTT CTGGAACAGA
7400
GAGGACAAGG GACAATTCAG CCAT
T
A
T
C
T
T
A
G
G
C
A
G
C
T
C
A
G
G
C
T
G
C
T
A
T
A
7450 |
REPEAT
A
C
A
A
A
A
T
A
C
C
A
T
A
G
A
C
T
T
T
G
T
G
G
C
T
T
A
A
A
C
A
A
T
A
G
A
C
A
T
T
T
A
C
A
T
C
T
C
A
C
7500
A
G
T
T
C
T
A
G
A
C
A
G
T
G
G
T
A
A
G
T
C
T
A
A
G
A
T
C
A
T
G
G
T
G
C
C
A
T
C
T
C
A
G
T
C
C
A
T
T
T
7550 |
var(7529):[G:0.01]
|
REPEAT
T
G
T
G
T
T
G
C
T
A
T
A
A
A
A
G
A
C
T
A
C
C
G
G
A
G
A
C
T
G
G
G
T
A
A
T
T
T
A
T
A
A
A
G
A
A
A
A
G
A
7600
G
A
T
T
T
A
T
T
T
A
G
C
T
C
A
C
A
G
T
C
C
T
G
C
A
G
G
C
T
G
G
A
A
G
T
T
C
A
A
G
G
G
C
A
T
G
G
C
C
C
7650
T
G
G
C
T
T
C
T
G
A
C
A
A
G
G
A
C
T
T
T
C
T
T
G
T
G
T
C
A
C
A
A
C
G
T
G
G
T
G
G
A
G
A
A
G
G
T
C
A
A
7700
A
G
A
G
G
G
A
G
C
A
G
A
C
A
C
A
T
G
G
G
A
A
G
A
G
G
G
G
A
A
A
A
C
C
T
G
A
G
G
G
G
C
A
C
C
G
T
A
G
C
7750 |
var(7719):[T:0.01]
T
T
T
A
T
A
A
T
A
A
C
C
C
A
C
T
C
T
C
T
C
A
A
G
A
A
C
T
A
A
T
T
C
A
T
T
C
C
C
T
T
G
A
G
A
A
C
T
A
A
7800 |
var(7770):[:0.06]
T
C
C
A
T
T
T
T
C
A
C
A
A
G
A
G
C
T
G
A
A
A
C
T
C
A
C
T
G
T
C
T
C
G
A
G
A
A
C
A
G
C
A
C
C
A
A
G
C
C
7850
A
T
T
C
A
T
G
A
G
A
G
A
T
C
C
A
A
T
C
C
C
A
T
A
A
T
T
C
A
T
A
T
G
C
C
T
C
C
C
A
C
A
A
G
G
C
C
C
T
A
7900
C
C
T
C
C
C
A
A
C
A
C
C
G
C
C
A
C
A
T
T
G
G
G
G
A
C
C
A
A
A
T
T
T
C
A
G
C
A
C
G
A
G
T
T
T
T
G
A
C
A
7950
G
G
G
A
C
A
G
A
C
A
T
A
C
C
A
T
A
T
C
C
A
A
A
C
C
A
T
A
C
C
A
C
C
C
G
C
A
G
A
T
T
T
G
G
C
T
C
C
T
T
8000 |
REPEAT
G
T
A
A
G
G
G
C
C
C
A
G
T
T
C
C
T
G
G
A
T
T
G
T
A
G
A
T
G
G
C
C
A
T
C
T
T
T
T
T
A
T
T
G
T
G
T
C
C
T
8050
C
A
C
A
T
G
A
T
G
A
A
G
A
C
A
G
A
C
A
G
C
A
A
G
C
T
C
T
C
T
T
G
T
G
T
C
T
C
T
T
C
T
T
A
T
A
A
A
G
T
8100
C
A
C
T
A
T
T
C
C
C
A
T
C
A
T
G
A
G
G
G
C
C
A
C
A
C
C
C
T
C
A
G
G
A
C
C
T
C
A
T
C
T
A
A
A
C
C
T
A
A
8150
T
C
A
T
C
T
C
C
C
A
A
A
A
G
C
C
C
C
A
C
C
T
C
C
A
A
A
T
A
C
C
A
T
C
A
C
A
C
T
G
G
A
G
A
T
T
A
G
G
A
8200 |
var(8165):[T:0.35]
G
T
T
C
A
G
T
A
T
A
T
G
A
A
T
T
T
G
A
T
G
G
G
G
C
G
G
G
A
G
G
A
A
G
G
G
G
A
C
A
G
A
T
A
C
A
A
A
C
A
8250 |
var(8239):[G:0.01]
T
T
C
A
G
C
C
C
A
T
G
A
C
A
GCCACC CCATACTATT CTTATGTTCC CTTTGAAGCC
8300
AGTGCTCAGT AGAC
C
TAGCT CCTAACTCCT TAAGCACCTA CCTGGCCGTG
8350 |
var(8315):[T:0.17]
ATGGAAAGAA TATACCTCAA CCA
G
TAGAAC AGGATGAATA GGGCTCTTTT
8400 |
var(8374):[A:0.01]
CTCCCTGTGC GTGCCAATTT ACACAGGCCT GTCACTGGTT TGATCCCTCT
8450
GCTGTCATTT GTTTTGTTGC CGTAGTGAGT TACTATAAGC ACTGAGAAGT
8500
GAGTCCCAAA GAAAATGGTC ACTATTTTTC ATTGCCTTCT CCTCCACTCC
8550
TTCCCCGGGG GACAACACCT GTTCCTGTTT ATTAAGGAA
T
GTGACAGATG
8600 |
var(8590):[A:0.03]
CGTGTTCCTG CTGCTTCATG CATTTAATAA AATAGGAGGG CTGGTTCTTC
8650
TGGCTGGGTT TTATGTTTAT TTCAGTTTGC TTTACAAAGT GGACACTTCC
8700
TAGTGCTTCA AACTCTCTCT TAGATTATAT TTGTGATTGT ACACTTAAAT
8750
CTGCAGGCAT TAGGAAATGA AAGAAGTTTC TAATTCTTAA CTTTCATAGG
8800
ACTCTAAAGT TAAAAGTATA AATGAATGGG ACTTTAACCC CTTCTTTTCT
8850
GTCAGATTCC AACATGCTTC TTGCCTGCTT CCAC
G
CTACT CCCAAGTCTG
8900 |
var(8885):[A:0.01]
CTTTCTCTGT ATGTGCCTCA TAGCCTGTCA GGGGCCTTGA GGAGGTGTCA
8950
GATAATAAAG TGAGTCTGAG GACATGGCCA GCAGATGGGT CAACCGTTCC
9000
TGTCCCCCTT TCCCCATCTT CAGCCCTAAT GAGGGGGGAT TCTGCCCATG
9050
TCTCTGCCTT GAATCAAACA GCCCCATTTT GCCTAGCATC TGCTGAAGGA
9100
ACTGCTCATC TTCTGACAAC CCAGCTACTC AGTTTGTGAT
C
GTAAAAATC
9150 |
var(9141):[T:0.01]
ACCGTTCTTC ATCTGTGGAT CAGCAGCTTC TCCTAACCTG TCTATTTCAG
9200
AGGCATTGCA AAGATTTTTC TTTCGGTTCA TCCAGCTTAA TGGCCAGAAG
9250
TTCCTCTGCA GAGTAAAAAA CTGCTCCAAG CTTTTGCCCT CACTGCCTCT
9300
CACCCTCTAT TTCTAAATTG GCCAGTATGT GTGAGCCCAT TGTGGAAAGT
9350
CTGTTGCTGG GAAACACAAG GAAGCAACTT CCCCTGAACG GATCCTTTCA
9400
GTTTGTATAG ACAAGAGTAA CACTGGATTT AATGGGCAGT AGGTAGAGGG
9450
TAAGGGGATC GTTAGTATGT TTCCTCTGAA GAATCACCAG TAATATGAGT
9500
CAGCTGTAAA TACCAGTTGA TCAAATATTT TAGGGG
C
T
G
T
A
A
T
C
C
C
A
G
C
A
9550 |
REPEAT
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
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
A
C
9600 |
var(9580):[C:0.01]
A
G
C
A
T
G
G
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
9650
G
C
C
G
G
G
C
A
T
G
G
C
A
G
T
A
T
G
T
G
C
C
T
A
T
A
G
T
C
A
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
9700 |
var(9654):[A:0.38]
|
var(9700):[A:0.18]
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
9750 |
var(9744):[T:0.18]
T
G
T
G
C
C
G
C
T
G
C
A
C
T
C
C
A
C
A
C
T
T
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
T
G
T
9800
C
T
C
A
A
A
A
G
A
A
A
A
A
A
A
A
A
A
TT AGAGGAAAAG ATGAAAGGGT TGAGATGAAG
9850
AACTGAAAGA TGAACATCTC CCTACCCTCC AACCTATTAG GAAAGATAAA
9900
TTGTTCTTAG AAACTGTGGG GGCAGAAGGA GTCCTGGAAG AATCTAGAAA
9950
TGAGAATTCT CATAAGGCAA AGAGGGATTT ATGCTGTTAT TAGAGCTTGA
10000
AGAGTTGAAG AATGACACAG AGAAGTTGTT TCACTGGAGC AGTCGGAAAA
10050
AATA
C
GAAGA TTTGCCAGCA CTGGTGAATA TAAAAGTTTC AGGAAAGAGA
10100 |
var(10055):[T:0.19]
AGTCCATTCT GACTGGAACA ATAAAAAGAA GTCACTGGGT CCATCAGATC
10150
CAAGGAAAAG ACAGAGCCTG TGGTTGAGAC TCCCCACTGC AGTGTTCAGT
10200
GGTGGCCATG CTGACTTGAC ATAATTCTCC CCACAACCCT CCACAAATTA
10250
TCTACCTGGA CATGGTAGGC TCCAGACAGC ATTCATCTGG CCAAGGTTCA
10300
GCTGATCTCC TCTTTTGCTG ATTTGCGTGG AAAACGGTGA AACAGAAGAA
10350
ATCCAAGTGG ATCTCTACTG ACTTAAAACA CCTGAGTAGG AAATAAAACA
10400
CACCCTTCCC TCCATTAAAG TCCAGGACTG GGAGATGAAG GAGGGTGACT
10450
ACACAGCATC AAAGAGCAGA ATTTGGTCAT CTGGGCCTCA TATGACCTCC
10500
TGAAACAAAT TAAAATGTAG CTAATGAAGA CTGCAAAGAA AGAGTTTGCC
10550
ACTGAGCTCT CTGCTTCTAC TCTCACCCTC TCCAAGTCAG CCTACCCCAG
10600
GCCACCTCAT TACTGTTCAC AAACATAATT TGGATCAAGA TACATCTGAC
10650
CTCTGAGACC TCTAGTGGCC CCCTTTCCAA ATTGAATAAT GTACCCATGT
10700
CTCAGCAAGG CATTCGGGGC TTCCACTCTG CATGGCCCCA AGCAGCCTTT
10750
CCAGTTTATC CCTCATTCCA GCCTCCATGC AGCCTGAGCT TCACCAAGAT
10800
AGGCTATTGC CATTCCTTGG GGCCGCACAT GCTGCCTCTC CTCCATCCTT
10850
TTGTTCCTGC TGTCTGCTCC CTCGACACAT ATCCTGCATC ACCTCTTGAC
10900
ACCCAAATCC TACACATTCA AGACCCATCT CCAGCTCCTT CTGATATTCT
10950
TTCTAATA
T
G ACTTTGTACC TCTTAAGGAA GACATTCATC TTAGCTCACC
11000 |
var(10959):[C:0.22]
TTGTACTTGA ATTACTTCT
A
G
G
T
C
T
T
C
T
C
T
C
C
A
T
T
T
G
G
T
T
G
G
G
A
G
C
T
C
T
C
11050 |
REPEAT
T
T
G
A
G
A
C
A
G
G
G
A
C
T
A
T
A
C
A
G
C
C
C
T
T
A
T
C
T
T
T
G
C
A
T
C
T
G
C
T
G
C
A
G
C
A
C
C
T
A
11100
G
C
A
A
G
G
T
G
C
C
T
T
G
T
A
C
A
T
A
G
A
A
G
T
A
G
T
T
C
A
TGGATAGATT GAAAAGAATA
11150 |
var(11101):[T:0.03]
AATGGAGGCT GAGAAGAGTA GACTTGTTTG TGAAAAATGA CATACACCAT
11200
TGTGAAATTC TGGGATTCCA CAATATCTGA CACATAGTAG GTAATAAAAA
11250
AAAA
A
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
G
A
G
A
C
A
G
A
G
T
C
T
T
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
11300 |
NOT SCANNED
|
var(11255):[:0.27]
|
REPEAT
T
G
G
A
G
T
G
C
A
G
T
C
G
C
T
A
G
A
T
A
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
T
G
C
C
T
C
C
T
A
G
G
T
11350
T
C
G
A
C
T
G
A
C
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
A
A
C
T
A
C
A
T
G
T
G
C
11400
G
C
A
C
C
A
C
T
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
C
T
A
T
T
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
11450 |
var(11401):[A:0.20]
T
T
G
C
C
A
T
A
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
T
C
11500
C
T
G
T
C
T
C
G
G
C
C
T
C
C
T
A
A
A
T
T
G
C
T
G
G
G
C
T
T
A
C
A
G
G
T
C
T
G
A
G
C
C
A
C
C
A
C
A
C
T
11550
C
A
G
C
C
A
A
A
A
A
A
A
G
A
T
TTTTT TTTTTAATGA ATAAAT
G
TTG AAGGGCTTTT
11600 |
var(11587):[A:0.40]
GGAATAGGAT GTAAGAGGAT ACAGGTAGTA TTTCTGGTAG AAGTGATCTG
11650
CCAGGTTATG AGTAATACAG CCTTTAAATC TTGATAGAAA TAAGCATCCT
11700
GCAGAAACCA CCTGGCTGGA TAGAAGATAT GGCTGATGCT CTTCTAGTAT
11750
CTGGCGTAAA GACAACTTTC CA
A
T
T
T
G
T
A
T
C
C
T
G
A
G
T
T
T
G
A
G
T
C
A
C
A
A
A
C
11800 |
var(11773):[G:0.43]
|
REPEAT
T
G
C
A
T
C
A
C
C
A
T
G
A
A
T
A
C
A
T
C
T
C
T
G
A
A
T
C
T
C
T
C
T
T
A
G
C
C
C
T
T
G
T
T
G
A
T
T
G
C
11850
C
T
A
T
A
A
A
A
T
G
G
G
G
A
T
A
A
T
A
A
T
A
G
C
T
A
C
C
T
C
A
C
A
G
G
C
T
G
G
T
T
G
C
A
A
G
A
A
C
T
11900
G
A
A
T
TATATA AGGTATAATA ACTTTCTTCA GACTATGAGG CTTAATAAAA
11950
TTTTCATACT CTTAAACAGT ATTAGAGACA GATTTCCACT ATTTAGGCAA
12000
CTGTTTTCTA ATGATGATGG TTTGGTGAAC TCTTGGCTTG CCTTGATGAC
12050
AATTTCACCT TTCAGAAAAA GAAACACAAG AACTGCTTCT TTAGTCTTAG
12100
TATGATTGTC TCAGAACAAC TTGGTGCTGT GAAGTGAAGG AAACCCAAAG
12150
TGTTTGCTGT AATGACCAGA GAGTGTCAGT GAAACTCCTT AGCCTAAGGA
12200
TAGGACATGT CAAATAGTTC AGAGTAGTGG TTCTGTAGCT TGCAAGCTAA
12250
AGAGAAATAT AGATTAAGAG AGATGGTAGA GCTTAAAAAA TAAAATTATA
12300
GACACAATAA TAAGTGGAAA AAATGAGGGG CCTCAAACAT TAATAATAAT
12350
ATTTATGGAG TC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
T
G
C
T
C
T
T
G
T
T
12400 |
REPEAT
G
C
C
C
A
G
G
T
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
12450
T
C
C
C
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
T
T
A
G
C
T
G
G
G
A
T
T
12500
A
C
A
G
G
C
A
T
G
C
G
C
C
A
C
C
A
G
A
C
C
C
A
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
12550 |
var(12502):[T:0.47]
A
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
G
C
G
A
C
C
T
C
A
G
A
T
G
12600 |
var(12577):[A:0.47]
A
T
C
T
G
C
C
T
G
C
T
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
C
C
G
T
G
A
G
C
A
A
C
12650
C
A
T
G
C
C
C
G
G
C
C
CTATGGAGT CTTTTTAATG TACCAGGACT GTGTTAAAAG
12700
CTCAAAGCCT ATTTCCCCTT TTAACTTTCA CAATATTCCT ATGACATGCC
12750
CTTGAATTAG CTTAATTTTA AAGTGGTCAT GTGCAGAAGA TGGAAAGAAT
12800
TTTAAAATTT GACACAAAAC TATAATAATT AGGACAAAAA AGCTAAAAC
C
12850 |
var(12850):[T:0.04]
TAATTGAGTC AAAGTTGGTG ATTCACAC
A
T AAGATAATAA AATGGATGTT
12900 |
var(12879):[G:0.20]
TTTAGCCATG TTCAGAATAA GATATGGAAG ATATGGAAGA AATAAGCCTA
12950
CCTCCTGGAA TAGGTAATGG GAGATTAACA GGTGATAGAG GTAAGT
C
ATA
13000 |
var(12997):[A:0.29]
GATGGCTCTT TTGTTTCT
G
T CTTACCC
A
TC AAGGGGAGTG TTCTTCAAAT
13050 |
var(13019):[A:0.01]
|
var(13028):[G:0.01]
TGTCAAGAAC AGTTAAAAGA AAACAAAAAT CCAAGCTAGA TGAGGAGATA
13100
GCAGAAAAAC GCCCACTCTC TTTAGTGAGA TTAACTATT
C
A
G
G
A
G
C
A
G
A
T
13150 |
REPEAT
G
A
A
T
T
A
C
A
C
A
T
T
G
G
G
A
T
A
T
T
T
A
G
T
G
A
A
G
A
A
A
G
T
C
A
T
A
G
T
G
G
A
G
C
C
A
C
T
G
T
13200
T
A
G
T
T
C
A
T
T
T
A
G
A
A
A
T
C
A
T
G
G
A
G
A
A
C
A
G
A
A
A
G
G
T
C
C
T
A
A
A
A
G
A
C
A
G
G
A
C
A
13250
G
G
C
A
A
A
T
G
T
T
T
C
C
A
T
T
T
T
T
A
T
A
A
A
G
A
A
G
G
G
A
A
G
G
G
T
G
G
A
T
T
C
T
G
A
A
A
A
C
C
13300
A
C
A
G
G
C
T
A
C
T
G
A
A
A
T
T
T
A
G
G
A
C
A
G
A
G
C
T
C
C
A
G
A
G
G
G
T
T
A
T
A
T
G
A
T
T
A
T
T
C
13350
A
T
G
T
A
T
T
T
T
G
G
G
A
T
T
G
C
C
C
A
G
A
A
A
A
G
A
A
A
T
C
T
G
G
G
A
T
T
T
T
T
T
C
T
A
A
G
A
C
A
13400
A
A
G
T
G
G
A
T
T
T
A
C
T
A
A
G
A
A
T
A
A
A
T
C
A
T
G
C
C
A
A
A
C
T
T
T
T
T
T
T
T
T
T
C
A
G
T
A
A
A
13450
G
T
T
T
C
A
A
A
G
C
T
G
A
T
A
G
A
T
T
A
A
A
A
A
A
A
C
A
T
G
C
T
G
T
G
A
G
C
A
T
A
A
T
G
T
A
T
C
T
G
13500
A
C
T
T
C
A
G
A
A
A
A
G
A
A
T
T
G
G
A
T
G
A
A
G
T
C
G
C
T
T
A
T
T
A
T
A
C
C
T
T
T
C
T
A
A
A
T
A
A
T
13550 |
var(13527):[A:0.18]
A
T
A
A
A
A
A
A
G
A
A
C
G
A
G
C
T
A
G
G
T
A
A
T
A
G
T
A
C
C
G
C
T
A
G
G
G
G
T
T
G
C
T
A
A
G
T
C
A
C
13600 |
var(13552):[:0.01]
T
G
T
A
T
A
G
C
A
A
A
T
T
A
T
C
T
A
G
T
G
G
T
T
T
T
T
G
A
C
A
G
G
G
C
T
C
T
G
T
C
T
T
G
G
G
T
A
T
T
13650
G
A
A
C
T
G
T
C
C
A
A
C
A
T
G
T
C
A
G
T
G
A
C
T
T
G
A
G
C
A
A
A
G
A
C
A
G
C
A
T
T
T
T
A
T
C
G
T
G
T
13700
T
T
G
C
A
A
T
T
C
A
A
A
G
C
T
A
G
A
A
A
A
C
A
G
T
T
G
A
A
C
A
T
G
T
T
G
G
A
T
A
C
T
A
T
C
A
T
T
C
A
13750
T
A
T
T
T
A
C
A
A
A
G
T
C
C
T
A
C
C
A
G
A
T
A
A
T
A
C
A
A
T
G
G
G
C
C
A
A
A
A
T
C
A
A
T
C
A
G
A
T
G
13800
A
A
A
T
T
T
A
A
C
A
A
G
A
A
T
A
A
A
T
G
T
A
A
A
G
C
T
A
T
C
A
A
C
T
A
G
G
A
G
T
G
A
A
A
A
G
C
A
A
A
13850
T
T
G
C
A
G
A
A
G
T
T
C
A
G
G
A
T
G
T
G
A
G
A
C
A
T
C
T
G
T
C
C
T
A
A
G
A
G
T
T
C
T
C
T
A
A
T
C
A
A
13900
C
A
A
C
A
A
A
T
C
C
T
A
A
T
C
A
G
T
G
T
T
G
A
G
G
A
T
A
G
T
G
C
C
T
G
A
C
A
C
A
T
A
A
T
G
G
A
T
A
C
13950 |
var(13904):[:0.01]
T
C
A
A
A
A
A
T
A
T
T
T
G
C
C
G
A
A
T
G
A
A
T
G
A
A
T
G
A
A
C
A
G
A
T
A
C
T
G
T
G
A
T
G
C
A
A
C
T
G
14000
T
T
T
A
T
A
A
A
A
A
G
C
T
C
C
T
T
A
C
A
T
T
T
T
A
G
G
T
T
T
C
A
T
T
A
G
T
G
C
A
T
A
C
A
T
A
T
G
G
C
14050
C
A
G
G
T
T
A
A
A
G
A
A
G
C
T
A
A
G
A
G
T
C
C
C
A
C
T
G
T
A
C
T
C
T
T
A
A
T
T
G
T
C
C
A
G
G
C
C
A
C
14100
A
T
C
T
A
A
T
A
C
T
G
T
G
T
C
T
A
G
T
C
C
T
G
G
A
C
A
C
A
T
T
T
C
A
C
A
A
G
G
A
C
A
C
T
G
T
C
A
A
G
14150
T
C
A
A
A
G
A
T
T
A
C
C
T
T
G
A
A
A
A
G
A
G
T
C
A
C
C
A
A
A
A
G
A
G
C
A
C
C
T
A
T
C
T
G
G
A
C
C
C
C
14200 |
NOT SCANNED
G
T
T
T
T
T
T
T
G
T
T
T
T
G
T
T
T
G
G
T
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
C
T
G
T
T
T
T
T
14250
T
G
T
T
T
T
T
A
C
C
A
C
A
T
T
T
A
A
G
T
A
G
A
A
A
A
G
T
T
A
A
A
G
G
A
A
C
T
A
G
A
G
A
A
A
T
G
A
A
G
14300
A
A
G
C
C
A
G
A
C
A
G
A
A
G
A
C
A
T
G
A
A
A
A
A
T
A
T
G
A
A
A
A
T
T
G
C
C
T
T
A
C
A
A
T
A
T
T
T
G
A
14350
A
A
A
A
A
G
G
G
C
T
A
G
G
T
G
C
C
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
14400 |
REPEAT
G
T
C
T
G
A
G
G
C
A
G
G
A
G
T
A
T
C
A
C
T
T
G
A
G
C
C
C
A
C
A
C
A
T
T
C
A
A
G
A
C
C
A
G
T
C
T
G
G
G
14450
T
A
A
A
A
A
A
T
T
A
A
G
A
A
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
C
A
C
C
C
T
14500 |
REPEAT
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
G
T
C
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
T
T
C
C
14550
A
C
C
T
C
C
C
A
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
T
G
A
G
T
A
G
C
T
G
G
G
14600
G
T
T
A
C
A
G
G
C
A
G
G
C
G
C
C
A
C
C
A
C
A
C
C
C
G
C
C
T
A
A
T
T
T
T
T
T
T
T
G
T
T
G
T
T
G
T
C
G
T
14650
T
A
T
C
C
T
T
A
G
T
A
G
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
A
A
A
14700
C
T
C
C
T
G
A
C
C
A
C
G
T
G
A
T
C
C
A
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
14750
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
A
A
A
A
A
T
A
C
A
T
T
T
T
T
T
A
A
A
A
A
A
T
T
A
G
14800 |
REPEAT
C
C
T
G
G
C
T
C
G
C
T
G
G
T
A
C
A
T
G
C
C
T
G
T
A
G
T
T
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
T
G
G
14850
C
A
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
C
T
G
A
G
G
C
A
G
C
A
G
T
G
A
G
C
C
G
T
G
A
T
C
14900
A
T
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
G
G
C
A
A
G
C
T
C
T
T
G
T
T
T
C
A
A
A
A
A
14950
A
A
T
A
A
A
A
A
T
A
A
T
T
A
A
A
A
A
T
A
A
T
T
T
T
T
A
A
A
T
A
A
T
A
T
T
T
G
A
A
A
A
A
T
G
T
C
A
T
T
15000 |
REPEAT
T
G
G
A
A
T
G
A
A
G
A
T
C
A
G
A
C
T
A
A
A
T
C
T
C
T
G
T
C
T
A
G
C
T
C
T
G
A
A
G
A
G
T
A
A
A
A
T
T
A
15050
G
G
A
T
C
C
A
T
T
G
G
T
A
G
A
A
G
A
C
A
G
A
G
G
A
A
A
C
A
G
A
T
A
T
T
G
G
C
T
C
T
G
T
A
T
T
A
G
G
A
15100
A
A
A
T
C
T
T
G
G
A
G
A
G
T
G
A
T
C
C
A
A
A
A
G
T
G
A
A
A
T
G
G
A
C
T
T
C
T
C
T
G
C
A
A
A
G
T
A
A
T
15150
G
A
G
T
T
C
C
T
T
G
T
T
A
C
T
G
G
A
A
A
T
G
T
G
C
T
G
G
T
A
G
A
G
G
C
T
G
C
A
C
T
T
T
T
A
T
T
G
A
A
15200
G
G
A
A
T
T
T
G
T
G
A
A
G
T
G
A
G
A
T
A
T
T
A
A
G
C
T
G
G
A
T
G
A
C
T
T
A
T
A
A
TGCTAATATT
15250
TTGTCATTGT ACCAAGGCTA GAGAAGTTTC ATAGGCACTT AAGAAA
T
TGC
15300 |
var(15297):[C:0.38]
TTTGCACCTC TTTCCTGTAA CATGACCTTG GGCTTCTGTG CACACTCACT
15350
GCTTTGTTGT CTACTAGATA GTTGCATACT ATGATGAATC TCATACTTTT
15400
TCAAAACACA AAGTCCTCTG CAGATGTTTA GCATAATTGC TGTGTTTCCT
15450
TTCACTAGAT AGATGTGTGT GTGTGTGTGT GTGTGTGTGT GTGTGTTACT
15500
CTGTATACTT TACATTTATT CAAATTGCCA TAAGAAAACT TTGAAACAGA
15550
CTGCATTTAT CACAGCTAGG AGTCACCCAG AGTACTTTCA GAAAAAGCAA
15600
TTTGCTGATT TACCTTTTGT ATGTA
T
TTCC AAAGCACTAA AGTTACAAAG
15650 |
var(15626):[C:0.12]
ACCTAGTGTA TAGGGCATGA AGATGAATAA GCAAAGGCAA ACAAGAATAT
15700
CCATCACAAG AGACATTAAT GTCAAGGAGG CAATTTTTAA ATGTACAATT
15750
ATTTAAAAAG AAGAGGAAAG ATTGACAATG ATGGCTTCCA TCATATGTTT
15800
AAAAGTGCCA AAGAGCAAAG CCATTTGCCA AACAAAGCAA AGAGCTCCAG
15850
ACTACCTTTG TGAGTTTGCT GCCTGCAGGC CAGGCCACTC TGGACTCCTT
15900
TGCCCAAGCA GACAAAATAT TATCATTTCC AGTTCTTTAA AGCTGGCACC
15950
CTGCTTCATA ACTTTGACAT TCAACATATC ATAATATTTT TGACTACCAG
16000
GTCCACTTTT CAAAAAGCAT CTTTTGAAAA TTCTTTCTGA AGATAGCAAT
16050
ATTTCAAATC TTCATTGCCT GGGCTTGCTT TTTCATCTCC TGCCAGTCAC
16100
TGAAATCGTA TTTAATCAGA CTGGGCTATG TGGTTCCTGT GTCCGGCTGG
16150
TCCCAAGCAT GGAAATGTAG CTCTTGGACA GTGCCATAAA ATCAGGCAA
T
16200 |
REPEAT
C
C
T
G
A
G
T
A
G
C
T
G
G
G
G
T
T
A
C
A
G
G
C
A
G
G
C
G
C
C
A
C
C
A
C
G
C
C
C
A
C
C
T
A
A
T
T
T
T
T
16250
T
T
T
G
T
T
A
T
T
G
T
T
G
T
T
A
T
C
C
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
16300
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
AAATTGT CAATTACACA AAGATGCCAA
16350
GTTTAGAGGG AAAGGATTTA TATAACCAAC AAAGTGTTCC ACATTTTAAA
16400
AAAGACATAA TTGTGAGTAA TAAAAGTCAG AGTGGACACA CTCTATTTTA
16450
TCTATTTTTT TTCACTTCCC ATAAGTAGTT GTAGTGGTGC CCTCAGATAC
16500
TATGGGATGT GGGAAAATCA GTAAGATATA GACTTGGCAG CATGAAGGGA
16550
CTTAAG
G
TGG TGGGAAGATT AGGGCCAGTC CTGGGATAAG GAGTTGAAAC
16600 |
var(16557):[T:0.32]
ATTATTTAGA ATCCACTAGG GAGTTATTGA AGGATTTCAT TTGCTTGCTT
16650
GCTTTGAGGA GGCAATAACG ATCAGAACAG TCCTATAAGA AGTTCAATCT
16700
CTCAGTCCAA AAAGTCCGTG CAGAAAGAGA CCTAAAGTAG GAAGGGGAGT
16750
CAGGAATCTA ACAGAGCAGC CCAGAGGTGG AGCAGAGTCA GAGACACCGT
16800
TTGAGATCCG AGCACCC
G
CT GACTGACAGC CTTCAGTTCC AATCCAATCT
16850 |
var(16818):[A:0.42]
GCACTGCATT CTGGGTACTA ACCCTGCACA ATAACCAGCT GCAATTGCCA
16900
AGAAAACCTG TGCAGCTGGT GGTGAGTGAA AACCAAGGAT GTGAACTCAA
16950
TGTGCTGCAG CTGAAGAAAC AGAGTTGTAC C
T
G
G
A
A
C
C
G
C
C
C
A
G
T
G
G
G
T
T
17000 |
REPEAT
C
A
C
C
T
T
G
C
C
C
A
C
T
G
C
C
T
A
C
A
C
A
G
A
A
C
C
C
A
T
T
T
A
T
C
A
A
G
A
C
A
G
G
G
G
A
A
T
T
G
17050
C
A
A
T
G
G
A
G
A
A
A
G
G
G
T
A
A
T
T
C
A
C
G
T
A
G
A
G
C
T
G
G
C
T
G
T
G
T
G
G
G
A
G
A
C
C
A
G
A
G
17100
T
T
T
T
A
T
T
A
T
T
A
C
T
C
A
A
A
T
C
A
G
T
C
T
C
C
C
C
A
A
G
C
A
T
T
C
A
G
G
G
A
T
C
A
G
A
G
T
T
T
17150
T
T
A
A
A
G
A
T
A
A
T
T
T
T
G
C
A
G
G
T
A
G
G
G
G
C
T
T
G
G
G
A
A
G
T
G
G
G
G
A
G
T
G
C
T
G
A
T
T
G
17200
G
T
C
A
G
G
C
T
G
G
A
A
A
T
G
A
A
A
T
C
A
T
A
G
T
G
G
G
T
C
A
A
A
G
T
T
A
G
G
T
T
T
T
C
T
T
A
A
C
G
17250
T
C
T
T
C
T
G
T
T
C
C
T
G
G
G
T
G
T
G
A
T
G
G
C
A
G
A
A
A
T
G
A
T
T
G
G
G
C
C
A
C
A
T
T
A
C
T
G
G
T
17300
C
T
G
G
G
T
G
G
T
G
T
C
A
G
C
T
G
A
T
A
C
A
T
C
C
A
G
T
G
C
A
G
G
G
T
C
T
G
C
A
A
A
A
T
A
T
C
T
C
A
17350
A
G
C
A
C
T
G
A
T
G
T
T
A
G
G
C
T
T
T
A
C
A
A
T
A
G
T
G
A
T
G
T
T
C
C
C
C
C
A
A
T
T
T
G
G
A
G
G
T
A
17400
T
T
T
G
G
G
G
A
G
C
A
A
T
T
T
G
G
G
G
A
T
T
G
C
T
C
A
G
A
C
T
C
T
T
G
G
A
G
C
C
A
G
A
G
G
C
T
G
C
A
17450
T
G
A
C
C
T
C
T
A
A
A
C
T
G
T
A
A
T
T
T
C
T
A
A
T
C
C
T
G
T
A
G
C
T
A
A
T
T
T
A
T
T
A
G
T
C
C
T
G
C
17500
A
A
A
G
G
C
A
G
A
C
T
G
G
T
C
C
C
C
A
G
G
C
A
A
G
A
A
G
A
G
G
G
T
C
T
T
C
G
G
G
A
A
A
G
G
G
C
T
G
T
17550
T
A
T
C
A
A
T
T
T
T
G
C
T
T
C
A
G
A
G
T
C
A
A
A
C
C
A
T
C
T
A
C
T
G
A
A
T
T
C
C
T
T
C
C
C
A
A
A
G
T
17600 |
var(17575):[G:0.44]
T
A
G
T
T
C
G
G
C
C
T
G
T
G
C
C
C
G
G
G
A
A
T
G
A
A
C
A
A
G
G
A
A
A
G
C
T
T
A
A
G
T
G
T
T
A
G
A
A
G
17650 |
var(17607):[A:0.18]
C
C
A
G
A
T
A
G
A
G
T
C
G
G
T
T
A
G
G
T
C
T
G
A
T
T
T
C
T
C
T
C
A
C
T
G
T
C
A
T
A
A
T
T
T
C
C
T
G
A
17700
G
T
T
A
T
A
A
T
T
T
G
G
C
A
A
A
G
A
C
A
G
T
T
T
C
A
TACC CAGTGACTGT TTTCCTGAGT
17750
GCTTTCCAGG GTGGTGGCCA GGCAGAGGTG TGGTCGAGTC GGGAGGTGGG
17800
ATGGTTCCAG CCTCAGGGGC CTGGCTTCTT CTTCCTTCCT GGAGGGACAA
17850
AATGGTCATC TTCCTCCTGC TGTAGTGTTT TCCCCTG
T
GT TTTGTTCCTT
17900 |
var(17888):[C:0.43]
CTGCTATGTG TGGATGTGTT GGGATAAGAT AGGGCAAGAT GAGCACCGGG
17950
AAAGGGGGCT GGCAAGAGGA AGGGAACCCT GTCTGTTCTC TTCCCCTTCC
18000
CAGTGATGCT GCCTCTGGAG AAGGTGAGGA AAACTCGCAC CCAACAGGCT
18050
GCAGGCTCCT GGGGCCAGAG CTTTCTGCTT TTTCCAGACT CCATATGACT
18100
GATGTGAAAA CGTTGAGTTT CCTGAGCCTG CTTG
C
CCTCT GGGTAGTCTA
18150 |
var(18135):[T:0.04]
ACTGCTCTGA TAATAA
A
A
T
A
A
G
C
GTAGAGG CACTGAAGTA AAGAATTTGC
18200 |
var(18167):[:0.57]
|
var(18173):[T:0.42]
AATAAAAAAG AA
A
ATGAAAA ATGGAAGCCA TAAGAGAAAT GAGTATTGGA
18250 |
var(18213):[C:0.02]
TCAAG
T
GTGA AGAATGGGAA ATGTCAAGGC ACTTGATAAT TTTTCT
G
CTA
18300 |
var(18256):[C:0.02]
|
var(18297):[A:0.02]
ACAAACAGAC ATTGTGAAGG TGGAAGTTTC CATGGTTTTC CTT
G
CCTGCG
18350 |
var(18344):[C:0.42]
TTTTCTTTTG CTATTGTCAT GAGATCTAGG GGCATGAGGG ATTTGTCATT
18400
TGAGTGTTAC ATTGCAACAA AAAGCAAGGC AGAAGTACAG AATCCACTTA
18450
AATGAGAGTA TGAACACAAT AGGAGGTTTT GCTACCTGGA ATTAGATGTT
18500
GAATTGCTGC TCTCTAAACT TTATTTTCTA TATAAAAAGC TTTAAATACA
18550
ATCATTTAAT TATTCATTTA AAG
T
T
T
A
T
A
T
T
A
A
C
A
A
C
A
T
T
T
A
G
T
G
T
G
C
A
C
18600 |
REPEAT
C
T
G
C
T
A
T
A
T
G
T
A
A
A
G
T
A
T
C
C
C
A
C
T
A
G
G
T
A
C
T
ATTCATCAA ATTAAA
C
CCA
18650 |
var(18647):[G:0.44]
GCTATTTAGT TATGAAAATA AACCATGGCC CACATACCCT GTGAAGCCCT
18700
GTTAAAAGCA GGCAACATGC CCAAGAAAAT ATGTTTCCTT TGAATTTCAC
18750
AGAAATCTTA GTTT
A
AGGAA GAAAAATCAA GAGTTTTTGT TATAAGCCAC
18800 |
var(18765):[G:0.43]
TATGTGTATG CTCTGAAACA GTTAATGTAG AGAACAGAGG TAGTGGCCAT
18850
AACTGAAATA AGGAGATAGT GAGTGAGTGT GTGTGTGACC TAATTCAAGT
18900
TTGGTGGTCC AAGTGGTATT TTTCTTGGCC TGTAAAAACT ACAGGTATTT
18950
GCAAAACTGT TCTAAATAGT AATGTAATAG AAGTTTTTTA AAAATTGAGT
19000
TAGTGCATAT GTTTGGACTC AATTTCTCCC TCTTTTGGTT ACTATATATG
19050
GTTCTAATTT CCAGCTGTGC AGTTACTATT GTAAATTCTC AACATTAAAA
19100
AAATTTTCAG ATACAAA
T
T
A
T
T
T
T
T
A
T
T
G
A
T
A
C
A
T
A
C
T
T
T
T
T
A
C
A
T
A
T
T
T
19150 |
REPEAT
A
A
G
G
G
G
T
A
C
A
T
G
T
G
A
ATTCT CAACAATTAA TATTAAATAA AAGGAGAAGA
19200
ATTCTGTTCT ATCCCAGATT AGAAATACCT TAGAATTTCT ATTTGTGTCT
19250
ATTTCCCTCC ATTCCATTAT TTTCTTCCTC TTCATACCAC ATTTATATAC
19300
GTCTTACCAT TTATTTATAT TTATTTAATA CTTTACTTCA GGAAACTTAG
19350
TATTGTTCTG GAATCAGAAA GCCCTTCTAG CTAGTCTGTC TTGCCAGGTC
19400
TTTCCGATTC TTCTCCCTCA AGAAGCAAGT GGTGGT
A
ACC AC
G
TCG
A
CAT
19450 |
var(19437):[G:0.43]
|
var(19443):[A:0.01]
|
var(19447):[G:0.01]
AAGAGATTTC CCGTCTGACT CCTCCCACCA TCTGTGTAGG TCACAGAACC
19500
TCACGCCAAC TGGCTCTCTT CAGACTGTGG TCAACTGGAA AATCGAGTCA
19550
GATTTCAGAA GGGTGGGAAA ATGAACCTAG AAAGTCTAAT GTGGAGAAAG
19600
CCTTAAAATA TATCCTTCAT GTTCCACAAT AGTGATTATT ATCTTTGGCG
19650
ATACTGCAAC ATAAATAGG
T
ATTCTTGGCT AGTTCATCTC TGGC
G
GCACC
19700 |
var(19670):[A:0.02]
|
var(19695):[A:0.01]
ATCTTGGCAT TTA
C
A
C
T
C
T
A
C
A
G
A
A
A
A
G
G
T
A
C
C
T
G
A
G
G
A
G
A
A
A
G
A
T
G
G
T
C
19750 |
REPEAT
C
A
A
G
T
T
A
C
T
T
G
C
C
A
C
A
A
A
T
C
A
C
A
C
A
G
A
T
T
A
A
C
A
G
C
A
G
CAC AGTCTGGGTG
19800 |
var(19767):[G:0.43]
|
var(19782):[T:0.01]
TATATGTGTA ATATATAT
C
T TTTTATTATT TTTA
T
A
T
A
C
A
A
G
T
A
A
T
G
G
T
T
19850 |
var(19819):[G:0.01]
|
REPEAT
G
T
T
T
C
T
T
G
T
A
G
A
A
A
A
G
T
T
A
A
A
A
C
A
A
T
G
A
A
G
A
T
G
A
G
C
A
G
G
A
A
G
A
A
A
A
A
A
A
T
19900
A
C
C
A
T
C
C
A
A
A
C
A
C
C
C
A
G
C
A
A
A
T
A
A
C
C
A
T
A
C
T
A
A
T
G
T
A
G
A
C
A
T
A
T
T
T
T
C
T
T
19950
C
T
A
A
T
C
T
T
C
T
A
G
G
T
A
T
G
T
A
T
G
T
A
T
A
C
A
T
A
T
A
T
G
T
A
C
A
T
A
T
A
T
A
T
A
C
A
C
A
T
20000
G
C
A
C
A
C
T
T
T
T
T
T
C
T
A
A
A
C
C
C
A
T
A
T
T
G
A
C
C
T
A
T
A
A
C
C
T
C
C
T
T
T
T
T
T
T
T
T
T
A
20050
C
T
T
A
A
C
A
A
A
A
T
A
C
T
G
G
G
A
A
T
G
T
C
T
T
T
T
T
G
T
G
T
T
T
T
T
A
A
T
A
T
T
C
A
G
C
T
A
T
T
20100
C
C
A
T
A
G
T
A
T
T
C
C
A
T
T
T
T
A
T
A
A
T
T
A
T
A
C
T
G
T
A
A
T
T
T
A
A
G
T
A
G
C
C
A
G
C
C
C
T
C
20150
T
C
C
T
T
T
T
G
G
A
C
A
T
A
T
A
T
G
T
T
G
T
G
C
C
A
A
G
T
G
T
T
G
A
T
T
A
C
A
A
T
A
A
G
T
A
T
T
T
C
20200
T
G
A
A
A
T
G
A
A
C
A
T
T
C
T
C
A
C
C
C
A
T
A
C
A
T
C
T
T
G
G
T
G
C
T
G
C
T
T
T
T
T
T
T
T
T
T
T
T
T
20250
T
C
T
A
T
A
A
C
C
C
A
G
G
A
C
A
G
T
G
C
T
G
A
A
G
T
G
C
T
T
C
T
T
T
T
C
T
T
T
A
A
T
T
T
C
C
T
C
A
G
20300
T
T
T
T
A
G
T
T
C
C
T
A
G
A
A
G
T
G
G
C
A
A
T
G
C
T
G
G
G
C
T
G
T
T
G
G
G
T
T
T
A
C
A
C
A
T
G
T
T
T
20350
A
A
G
G
T
T
C
T
G
A
T
G
C
A
T
G
T
G
A
C
T
A
A
A
T
T
A
C
C
C
T
C
C
A
G
A
A
A
A
G
T
T
CTGCTTTA
20400
AGTTCTACTT AA
G
GCTTTCC CACCCTGGGA CAGCTGAAGA CTG
G
CCAGAG
20450 |
var(20413):[C:0.44]
|
var(20444):[:0.21]
CTTTGCAGCT GCAATGATGT GTTTACCACC TCCCTTATCC AGCAACATTT
20500
GCAATTAGCC TCCGACCTTG TTCCTGGGAT TGTTTCCGGT GAAAATTAG
C
20550 |
REPEAT
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
A
T
20600 |
var(20597):[T:0.45]
T
G
G
T
C
A
G
G
C
T
G
A
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
20650 |
var(20612):[G:0.45]
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
TTTGG GAATGGTACC TGTGGATGCA CCTAGAGGTG
20700
TGTTTAGACA CTAGCTGAAA TCACTTTGGT CTTTCTAGCA AACCTTAGCC
20750
AATGGGCTCC ACTCACAAAG GGTCAGCTTC CAAGAGCAGA TTTTAGCTCA
20800
GGGCCTCTTA TGTTCAGGAC AATAATGGAG TAAAAAAACA AGGCTGAAAA
20850
CCAGAAGATA TGTGGGCTTA AGCAGATATG TGAATAGCTA CCCACATAGG
20900
AAAAACAAAA CAAAACAAAA CAAAAACAAA AACAGAAAAT AAGGTGGGAG
20950
TCCTTCTTTT ACAACCATGG ATACC
T
T
T
T
C
T
T
T
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
21000 |
REPEAT
|
NOT SCANNED
T
T
T
T
T
G
A
G
A
C
A
G
G
A
T
C
G
C
T
C
T
T
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
T
C
G
A
21050
T
C
A
T
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
T
C
C
C
C
C
A
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
C
C
A
C
C
T
21100
C
A
G
T
G
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
A
G
T
A
T
G
T
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
C
T
21150 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
A
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
21200
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
C
21250
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
T
A
G
G
C
G
A
A
C
21300 |
var(21293):[G:0.44]
A
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
C
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
21350
C
A
T
A
T
T
G
G
T
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
T
G
A
T
C
T
G
C
C
C
A
C
C
T
21400
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
G
C
C
C
A
G
C
C
T
21450 |
REPEAT
G
G
C
C
A
A
T
T
T
T
T
T
T
A
A
A
T
T
T
A
C
T
T
T
T
T
G
T
A
G
A
G
A
T
G
A
G
G
T
C
T
T
A
C
T
A
T
G
T
T
21500 |
var(21492):[C:0.44]
G
C
C
T
A
G
G
T
T
G
A
T
T
T
C
A
A
A
C
T
C
C
T
G
A
A
C
T
C
A
A
G
C
G
A
T
T
C
T
C
C
C
A
C
C
T
C
G
G
C
21550
C
T
C
C
C
A
A
A
G
T
G
C
T
C
G
G
A
T
T
A
C
A
G
G
C
A
T
A
A
G
C
C
T
C
T
G
T
G
C
C
C
A
G
C
C
AATAC
21600
CTCTT
A
T
T
A
T
C
T
A
A
C
T
G
A
G
C
A
T
T
G
T
T
A
A
A
T
T
C
A
G
G
G
A
T
G
G
G
T
T
G
C
T
G
A
G
G
21650 |
REPEAT
G
A
CGATATGA CAGATTACAC TCGATTTGAT GTGTGCTGAC TAAGGCCTGT
21700
GCATGCCTAG CATTGCTTTA GTCATGGAAT
G
A
A
C
C
A
C
A
C
T
C
A
G
G
T
T
C
A
G
A
21750 |
REPEAT
|
var(21734):[T:0.43]
T
T
C
T
A
G
T
C
C
T
G
C
C
A
C
T
T
C
C
T
A
T
G
T
G
C
T
T
G
A
G
C
A
A
G
T
G
C
C
T
T
C
A
T
T
T
A
T
C
T
21800 |
var(21775):[C:0.43]
G
A
G
A
C
T
C
A
C
T
T
T
C
C
T
T
G
T
C
C
A
T
A
G
T
T
A
T
T
C
C
A
A
T
T
G
C
A
T
T
T
G
G
T
T
G
C
A
G
T
21850
G
A
G
T
A
G
A
A
A
T
T
A
A
G
T
A
T
T
T
A
G
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
21900 |
REPEAT
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
T
G
G
A
T
C
G
C
T
T
G
A
G
C
T
C
G
G
G
A
T
T
T
C
21950 |
var(21932):[T:0.01]
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
C
A
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
T
A
T
22000
A
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
G
G
T
C
C
C
A
A
C
T
A
C
T
T
A
G
G
A
G
22050
G
C
T
A
A
G
A
T
A
G
A
A
G
G
A
T
G
A
C
T
T
G
A
G
C
C
T
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
22100 |
var(22058):[C:0.05]
|
var(22095):[A:0.01]
T
G
A
G
A
T
C
G
T
C
C
C
A
C
T
G
C
A
C
T
G
C
A
G
C
C
T
G
G
G
G
G
A
C
A
G
A
G
T
G
A
G
A
T
C
C
T
T
T
C
22150 |
var(22148):[G:0.44]
T
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
G
A
A
G
A
A
A
T
C
A
A
G
T
A
T
T
T
A
A
A
G
C
A
C
C
T
A
A
G
G
A
22200 |
REPEAT
C
A
G
C
C
C
C
C
A
G
C
C
C
C
A
T
G
G
T
A
G
T
G
C
T
C
A
G
C
A
A
G
T
G
T
T
TGGT GAATGAATGG
22250
ATTCATGCTC TACGCTTATA TAGAGTTTAC TTTGCTTTCA GATTGGGTTC
22300
TGCTTGC
T
C
A
T
T
G
T
A
C
T
T
A
T
C
A
C
T
A
T
A
T
G
A
G
A
A
T
T
G
T
A
T
T
G
T
T
T
A
T
T
T
T
C
22350 |
REPEAT
A
A
A
T
T
T
G
C
C
A
C
A
T
A
T
T
G
T
C
T
G
T
T
T
C
T
C
C
A
T
C
A
A
C
A
C
A
A
A
A
C
A
T
T
C
T
C
A
G
G
22400
A
G
A
A
G
A
G
T
T
G
G
T
T
C
C
C
A
G
C
G
C
C
T
G
A
A
A
A
C
A
G
T
G
C
C
T
A
G
C
A
C
A
C
A
G
A
A
G
A
T
22450 |
var(22419):[T:0.44]
|
var(22428):[:0.56]
G
G
T
G
A
A
T
C
A
A
T
A
T
T
T
G
T
GGT TATTTCTCAC TCACATTCCG TCCAGCAACC
22500
CAGTCTTGTT ACCAGGAGGC TGTTCAGCAC AGGACACTTA TCACACCATT
22550
T
A
TTGACCCT CCACTTCCCC CTCTGCCACT TATCACACCA TTGGTTGACC
22600 |
var(22552):[G:0.44]
TGTGCTTGCT TCCAG
C
C
A
T
C
C
T
C
C
G
T
T
A
C
C
T
G
A
A
G
A
A
C
G
A
T
G
G
G
A
A
G
G
T
G
22650 | Exon 3
A I L R Y L K N D G K V 109
C
A
T
T
T
G
G
T
G
G
T
T
T
T
C
A
A
C
A
A
C
C
T
G
C
A
G
C
T
G
G
C
A
G
A
C
G
G
A
A
G
G
C
G
G
C
A
C
A
G
22700
H L V V F N N L Q L A D G R R H R 126
G
A
T
C
C
T
C
C
T
G
A
G
G
C
T
G
A
G
C
A
A
T
T
T
G
C
A
G
C
G
A
G
G
G
G
C
C
G
G
C
T
C
C
C
T
A
G
A
G
C
22750 |
var(22743):[T:0.19]
|
var(22746):[G:0.04]
I L L R L S N L Q R G A G S L E 142
T
C
T
A
C
C
T
G
G
A
C
T
G
C
A
T
C
C
A
G
G
T
G
G
A
T
T
C
C
G
T
T
C
A
C
A
A
T
C
T
C
C
C
C
A
G
G
G
C
C
22800
L Y L D C I Q V D S V H N L P R A 159
T
T
T
G
C
T
G
G
C
C
C
C
T
C
C
C
A
G
A
A
A
C
C
T
G
A
G
A
C
C
A
T
T
G
A
A
T
T
G
A
G
G
A
C
T
T
T
C
C
A
22850
F A G P S Q K P E T I E L R T F Q 176
G
A
G
G
A
A
G
C
C
T
C
A
G
GTA
A
A
AA CCCACAAACC ATTCTCTGAA GTGGAAAAAT
22900 |
var(22860):[A:0.44]
|
var(22867):[G:0.44]
|
var(22868):[G:0.44]
R K P Q 180
GAGCTGCCAG TGCCTAGGGA GTGCAGAGGA GCGTGCTGAG AAATTCCTGC
22950
TGCAGGT
C
A
G
T
G
G
G
T
C
T
A
A
T
G
C
C
G
C
T
T
G
C
A
C
A
T
C
A
G
A
A
T
C
A
C
C
T
G
C
G
G
A
G
23000 |
REPEAT
C
T
T
G
A
A
A
A
G
C
A
A
G
T
G
A
T
A
G
G
G
G
G
C
T
G
C
C
C
C
T
A
G
G
A
C
A
A
A
C
T
G
A
A
T
C
C
G
A
A
23050
T
C
T
G
T
C
G
G
G
T
G
G
G
G
C
C
T
A
G
C
A
T
A
T
T
T
T
T
A
T
G
C
T
A
G
G
G
G
C
A
T
C
A
G
C
A
T
A
T
T
23100
T
T
T
A
A
A
A
T
A
C
C
A
A
T
T
C
T
A
A
T
G
T
G
A
T
G
C
C
G
A
A
A
T
T
G
A
G
A
G
C
TTGTGCTTTC
23150 |
var(23128):[T:0.03]
AATGATAAGT AGAGACTCTG GATACAATTG TAACGTTGGA AAGGAAGGGC
23200
AAAAGTAAAA ATAACTACCT CAGGGTGATG ACATTATCTA TTTTCAATTT
23250
TCTATAATGA AAATAAAAAA GAATGATTAG AAACTGCCAA GCTTTCATAA
23300
CAGCATTTTC ACAGGTCTTG TCAGAACATC CACTAACAAA AGGGAGCTTA
23350
GCTTAGCTGC ATTTGGTCTT AAGATACCAT CACCTCTGTC TTCTGTTTTA
23400
CTCCAGGTTG ATGGTATTTT TATTATTCTG TCATTGCACC TGCTGTAGAA
23450
ATTGCCACAT ACATTTCTTT TAGAATTTTG TGCTAGGCAG TGCTTTGTTT
23500
TCTATAA
A
GA ACTAGTATTC TTTGTCCTTT CCAATAATGT ATAACTGGTT
23550 |
var(23508):[G:0.02]
AAAGTTCCTG AATTTCATCC GCTATATAAG CCAATGTCAA ATCAGTAACT
23600
ATGTTCTTCT GTAATGG
C
CC ATATTATTTT TGTCTGCTAC CTCTCAATCC
23650 |
var(23618):[T:0.43]
TCACTTTCCA TTTGTTAATT CATTATATTA ATATATGCTT TAGTTACAAG
23700
CTACTCTGAG CCCTTTGTAC AGAGAAGCAG GGTG
T
AAGCA ATAATTTCCA
23750 |
var(23735):[C:0.04]
TTGCAAGTAG GAATGCTGTG CAGTTTTAGA TAGTAATATA AAAACTATGA
23800
ATCTGATCCT AGAAGTTTTG CCCTTGAACA ACAGGAAGCA TTTTTAATCA
23850
GAAATTCCAA GAAAGCTAAA ATCC
A
AGGTT TTTGGGGATT TTTGTTTTTC
23900 |
var(23875):[G:0.44]
AGTCATATAT AGAGAGATTT TTAATGTAGA TTTACATATG GAAAAAAATT
23950
A
ATAGAAAGA TATGCTAAAC TCTCTTTCTG CATCCCCATA GTA
G
CGCATG
24000 |
var(23951):[T:0.02]
|
var(23994):[A:0.31]
TAATCAGAAT GACAGTCAGA AATTGTGTCA CTGCTTATTT CAGAAATTAG
24050
TGTTCACCAC CAAATAAGTC AATTTCTAAA AGTCAGGACT CA
G
CCCTGAC
24100 |
var(24093):[C:0.44]
AAAGTCATCA GAAACTGTAC TTACTGGAAT TTTCTCAGAA GCTCTACCTC
24150
CTTAGACCAT GGTAGTGATC ACAGTGGCTC AGTCTCATAA TCACCTACTC
24200
ACTCATTCAG TCAGTCAACA AATG
G
G
C
A
C
A
T
T
C
T
A
G
G
C
A
T
T
A
G
T
G
C
T
A
C
C
24250 |
REPEAT
A
T
G
G
T
G
G
G
C
A
A
A
G
C
C
A
G
T
C
A
T
T
T
T
C
C
T
G
A
C
T
C
T
G
C
G
G
A
G
A
T
T
A
T
A
G
T
C
T
G
24300
A
T
G
TCCAATA CAATATGTGT TAAATAGCAC ATGTTGCCTA AATCTTAGCT
24350
AAATCAAAAA GCAGAATTCC TCTGAAAATC CTTAGCTGTG CTCATTTCTA
24400
AAATAAGGAT GATGACTTCA CTTTGGCAGT TAACA
T
AAAT GTTTTGTTGT
24450 |
var(24436):[C:0.05]
ATATAGATAT AATAAAGGTG ATTGCAAGCA GCATTCACAA GATAAAAGGG
24500
CAAGGA
A
ATT GACTTTTTGA CTAACAATGA ATAATATCAA CCCGTAAT
G
T
24550 |
var(24507):[C:0.43]
|
var(24549):[A:0.43]
AAAAATATGA T
A
CCAACTAC CTAATGATCA TAGAAGATAT CATTTATTCA
24600 |
var(24562):[G:0.43]
TTCTCATATC CCAAAGAAGT CAGAGGCTTT GCTAG
G
CCCT TGAGCCAAGA
24650 |
var(24636):[A:0.43]
CAAC
T
AAAAA ATAATACTGT TTAAAATTGG GGTTAACACC TTATTTATTA
24700 |
var(24655):[C:0.43]
TTATCTAAAT TCCATAAACA AATTACAGAC AATTCTTAAG AGGCTCCTGC
24750
CACAAAATAA CTCCTTTACC ATGTAGGAAA AGAGCCTTTC GTTTTCTCAG
24800
CTGTCTTGGT GACAATGCCA GCATTTTCCT AGGCTACTGG CTACTTACAT
24850
ATTCACTTTA GTCAAAAAGA TAGGGCTGGC AGGCTTTAGG AAAAAATGTG
24900
ATCCTACAAA ATTATGTAAG ATGTCAGAGG GTCCAAGTAT ACAGGACTAC
24950
TTGATTATGA AAATTGCGTG AGTAGGCAAG CACATTGGCT TTTGAACAGT
25000
GTCAGCAATC TGTGGTATGA ATGTGATTTC TTCCAG
G
A
C
T
T
C
T
T
G
G
A
A
G
A
25050 | Exon 4
D F L E E 185
G
C
T
G
A
A
G
C
T
G
G
T
G
G
T
G
A
G
A
G
G
C
T
C
A
C
T
G
T
T
C
C
A
G
G
T
G
G
C
C
A
G
C
C
T
G
C
A
A
G
25100
L K L V V R G S L F Q V A S L Q 201
A
C
T
G
C
T
T
C
C
T
G
C
A
G
C
A
G
A
G
T
G
A
G
C
C
A
C
T
G
G
C
T
G
C
C
A
C
A
G
G
C
A
C
A
G
GTGTG
25150
D C F L Q Q S E P L A A T G T 216
GGCT
T
TTGGG CAGTTTGCAT GCCTTCATCA ACACAAACTC C
A
AAGACCCT
25200 |
var(25155):[C:0.43]
|
var(25192):[G:0.39]
GAATAGGCTG GGTCCCATCA CCGAAAAGTG GGACTGTCAA CAGAGCAGCC
25250
CAACAAAACG TATCTATGAA AATCAGTCTC TTGAACAAAA TCCAGGGCAC
25300
G
GAATATTTT CATTATGCTT TTATTTTTAT GATTCACATG GAATTTAGAC
25350 |
var(25301):[A:0.42]
TTAGTCAGTG GCATCATTAT CATTATTTTT TTTTAGCTGA ATTAAAGAAA
25400
TTACCCCAAA TTAAATTCAA AGATTCTGGG TTTTTGAATC ATCTTGTCAG
25450
GATGATTTCC TGGGGAATAA TTTGGTTTTG AGTCACTTAG AAATGACCAT
25500
CACTGGCTGA AAACTCTTTG CCTTTTGCTG TTCCTACAG
G
G
G
A
C
T
T
T
A
A
C
25550 | Exon 5
G D F N 220
C
G
G
C
A
G
T
T
C
T
T
G
G
G
T
C
A
A
A
T
G
A
C
A
C
A
A
T
T
A
A
A
C
C
A
A
C
T
C
C
T
G
G
G
A
G
A
G
G
T
25600
R Q F L G Q M T Q L N Q L L G E V 237
G
A
A
G
G
A
C
C
T
T
C
T
G
A
G
A
C
A
G
C
A
G
GTAACAAG CGGGACATAT CATCAGAAAA
25650
K D L L R Q Q 244
GCCCT
G
GTCT TCTTAGAGCA GCTCCCCACA AGCTAGTGGA GCTGCAGGCC
25700 |
var(25656):[C:0.42]
TGCCCAGGCA
T
GGGGGCAGC CTCTGAGCCA GATCTC
C
GGG GG
C
C
C
A
C
G
C
A
25750 |
var(25711):[C:0.42]
|
var(25737):[T:0.17]
|
NOT SCANNED
G
C
C
C
C
G
C
A
C
G
C
C
A
G
G
G
C
T
C
T
G
C
T
G
G
A
A
G
T
T
C
T
C
T
G
G
A
A
A
T
G
G
G
G
T
C
C
A
A
G
25800
C
T
C
G
T
G
A
T
G
A
A
C
A
C
A
C
C
A
T
G
G
C
T
C
T
A
A
G
C
A
G
A
G
C
G
G
G
A
G
C
C
A
T
C
A
A
G
G
G
C
25850
T
G
C
T
A
A
C
G
C
T
A
C
T
G
T
A
A
G
A
A
G
T
G
T
T
A
C
A
G
A
G
A
G
C
C
A
G
G
T
G
C
G
G
T
G
C
C
T
C
A
25900 |
REPEAT
T
G
A
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
C
A
G
A
T
C
A
C
G
A
G
G
T
25950
G
A
G
G
A
G
C
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
A
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
26000
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
T
A
C
A
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
T
26050 |
var(26031):[G:0.46]
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
T
G
C
T
G
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
T
26100
G
T
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
C
T
G
A
26150
G
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
GT GTTACATAGA TAGCTCCACA
26200
A
GGATTCTTT CATTCCTGGA TGATATCAGG CATTCCTTTT CAATCCTTTT
26250 |
var(26201):[T:0.43]
TTCCCCTTCT CATTTTTAAA G
G
T
T
A
A
G
G
A
A
A
C
A
T
C
A
T
T
T
T
T
G
C
G
A
A
A
C
A
C
26300 | Exon 6
V K E T S F L R N T 254
C
A
T
A
G
C
T
G
A
A
T
G
C
C
A
G
G
C
T
T
G
C
G
GTAAGTG CTTTTCTAGT AATGGGCTCG
26350
I A E C Q A C 261
CCTGAGTTGG ATGATGCAGG CTGATGAAGG GCTTGCGGTG AGGCTGTGTT
26400
GACCGCAGTT TCTGAAGGTC TACCACATAG TTGGAGGGGA GGGAGGAAAA
26450
GTTCAATAGG AAACCAAATT TTGTTTTGCC TTCTGTATAT CTTCCTGGCG
26500
GTGAATACGC CTGTGGATGA TTGTTTTTCT CTAG
G
T
C
C
T
C
T
C
A
A
G
T
T
T
C
A
26550 | Exon 7
G P L K F Q 267
G
T
C
T
C
C
G
A
C
C
C
C
A
A
G
C
A
C
G
G
T
G
G
T
G
C
C
C
C
C
G
G
C
T
C
C
C
C
C
T
G
C
A
C
C
G
C
C
A
A
26600
S P T P S T V V P P A P P A P P 283
C
A
C
G
C
C
C
A
C
C
T
C
G
T
C
G
G
T
G
T
G
A
C
T
C
C
A
A
C
C
C
A
T
G
T
T
T
C
C
G
A
G
G
T
G
T
C
C
A
A
26650
T R P P R R C D S N P C F R G V Q 300
T
G
T
A
C
C
G
A
C
A
G
T
A
G
A
G
A
T
G
G
C
T
T
C
C
A
G
T
G
T
G
G
G
C
C
C
T
G
C
C
C
C
G
A
G
G
G
C
T
A
26700
C T D S R D G F Q C G P C P E G Y 317
C
A
C
A
G
G
A
A
A
C
G
G
G
A
T
C
A
C
C
T
G
T
A
T
T
G
A
T
G
T
T
G
A
T
G
A
G
GTA AAAGTTCACT
26750
T G N G I T C I D V D E 329
TAGACTGGGA GGGGATCCCT AAGTATCCTC CTCACCCTGC AGCTTTTGGA
26800
AAAAGAAGCC AAGCTGATGA TTAAGGGCTG ACTTGGGCTG TCCTCCAGGC
26850
TCCATTGAAA CCACTTGCTT GGAGACCCTG AGACAAGGGA TGGCGGAAGG
26900
AGACATGACC CAAGGTTATG GCTGCGTTTG TCATTTTTCC TCTGTGTTTC
26950
CAACTCTTCT ACTGGTCCAT TGGCTACAGT GCTGAGGTTT CTGCTTTACA
27000
CGCTGACATT TGCATTGGTT ATTTCTCTTA AATAGTCTGT GCTACAATTT
27050
TGTTTTTCCC CCACTTTTGC AAATGTGGAA GGGGAGGATT TTTCTAAGGG
27100
TATATTTCAG GAGTCACCGT GGATTTCTTC AGGCTTCCTA AAATAAAGGA
27150
GCAGAGGGGA ATCTCACACC AACAAGGGGG AGGCCCTGTA ACCTATGAGT
27200
AACTAAACGT GCCCAGGGAG GGCCCCAGAG GAGGCACATC CAGCAAATAC
27250
CAGCTATTTG ACCGGCTGGC AGAGCCCCAG AAGAGACTGT TTCAAGACCC
27300
TGGTTAGGCA GGCCAGCCTA
G
T
G
G
C
T
G
A
A
G
C
C
T
G
C
A
A
T
C
T
C
A
A
C
A
C
T
T
T
G
27350 |
REPEAT
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
T
C
A
C
A
T
G
A
G
C
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
C
27400
G
G
G
C
A
A
C
A
A
G
A
C
A
A
A
A
C
C
C
T
A
T
C
T
A
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
T
G
A
T
A
A
T
T
A
C
27450 |
var(27421):[:0.01]
T
G
G
G
G
C
A
T
G
G
T
G
G
C
A
T
G
T
G
C
C
T
G
T
G
G
T
C
C
C
A
G
C
T
A
C
T
C
T
G
G
A
A
G
A
T
G
A
A
G
27500
C
A
G
G
A
G
G
A
T
T
G
C
C
T
G
A
G
G
C
A
G
G
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
A
T
G
G
27550
C
A
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
G
G
G
C
A
C
A
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
A
C
A
A
A
C
A
A
27600
A
A
A
A
A
A
A
CAT GGTTAGGCAA TCACCAGTCC AGTTGCAAAG CAATGTTCAT
27650
AGCAGGTAGC AAGGCTGCCA CCAAAATGTG CCTTCAATGT GCCTTTCTCC
27700
TCCCACCCAG CCCAAGGAAG GCTGAAAGGA GAAGCGCAGG GGAGAGATGC
27750
AGGTACATAA CTTAGGCACA CTGACTCCCT GGGGCTCCTG CAGGCCCATG
27800
GTAATGTTAG TAACACTCAG CTGATTACCT TCGCTAGTAG TAAGCAATTA
27850
AGACGGTCTC TAGTAATCCC TCAATTGGAG AAACAACTGC ATACATTTCA
27900
CTGAACTGCA TCTGGTTTTT ATCTGTGAGG TAGAATTTTC CTCTTTCTGA
27950
AAGGGCAGGA AGTGGTCATG TTTTTTACAT TAGTTGAAGT GGTTTAAAAA
28000
AAACAAAAAA CAATCTCCAA GATTCCTAGA GCCTTGGAAT AGCATGGACT
28050
TGACAGGACA TGGAGGCAGG CACAGGCCCT GAGGGATTAC ATGGTAATGA
28100
AGAGGCACCG GCCCTGGCTT TGCCTTCTC
G
AGGTCTTTCT GATTGAGTAG
28150 |
var(28130):[C:0.01]
TTGGTTTGCT GATGCTTTTG GAGGCATCTA ACAGCCAGCT AAGTGGTCCA
28200
GGGACATAGT CCTTTCACAG AGATTTGCAA ATTCCATGTC AGAATATCAG
28250
GGAGCTTATT ACATTGAGAG GTAGGCTGGT TAATATCAAG GACCCTTTCA
28300
ACATGCATGT GCCATTATTC TACAGCACAG CAAAGCCTAC TAAAAAGCAA
28350
C
CTCAGATTG TGTGGTCAGG GATTCAGTGG GTAACTGGAG TTGGAAGCCT
28400 |
var(28351):[G:0.02]
TTATTTCCTT TTATTATTTT TTCCACCAAA AGATAGTTAA ATGACTAAAC
28450
AAGTATGTGC AAATAGATGA AGAAAAGTTT GAGAGTGTTT TCTCGGTGTG
28500
GCTAAAGACT TTGAACTTTT TTGTCTCCAG
T
G
C
A
A
A
T
A
C
C
A
T
C
C
C
T
G
C
T
A
28550 | Exon 8
C K Y H P C Y 336
C
C
C
G
G
G
C
G
T
G
C
A
C
T
G
C
A
T
A
A
A
T
T
T
G
T
C
T
C
C
T
G
G
C
T
T
C
A
G
A
T
G
T
G
A
C
G
C
C
T
28600 |
var(28572):[C:0.01]
P G V H C I N L S P G F R C D A 352
G
C
C
C
A
G
T
G
G
G
C
T
T
C
A
C
A
G
G
G
C
C
C
A
T
G
G
T
G
C
A
G
G
G
T
G
T
T
G
G
G
A
T
C
A
G
T
T
T
T
28650
C P V G F T G P M V Q G V G I S F 369
G
C
C
A
A
G
T
C
A
A
A
C
A
A
G
C
A
G
GT AGGCTGAAGT CATGGTTTCT ATTCATTTCT
28700
A K S N K Q 375
CATCTTAACA AAACAACTGT GGTTGGTTCC CACCTCTTTG GTATAAACCT
28750
TTACCTCCAT GAGCAGTCAA GGCCATGTGG AATGTCATGG TGCAAAATGA
28800
GCAAATTAGG AAGTTTTTCA ACCATTTCTG AGTATTTACA TTTATAAAAT
28850
CTAGAAGGGA GGAAGCTTTT AAGAGGGGAT AATAGAGTAT CACTAGAAAA
28900
ACAGTAAATG GGGTAATATG GCTATTGGCA TAATTTCAGT CTTATTTTGT
28950
TGATAGCTGT TGAGCATTTT GTCCTGCAGA ATAAGTTGAG AACCACGGAG
29000
ACAAAAGCTT TGAAAAATTA GGTCACTTTT GTAGAGTCAT TGTTGCCAAT
29050
CGAAGCTGTT TCAGAGATGA GGGGATTTTA AGAGTAGAAA TAATCCCCCA
29100
AGGCAACCTC CCCTTTTTCT TATGTAAGCT ATAAATTGCC ATAAAGCACT
29150
TGAGTACTTC TTGACAGTCT CCATTTATTT CCCAATGCTC TACTATATTC
29200
TGGTCATTAT TTAACTGACT GACTGTGAAA TTCTTTTTGA TGTTTTTAGC
29250
CCTTAAAAAT GGTTGTTCTA TAAATATATT TTACTACCTT AGGGAAATTA
29300
TTAGCTTTGA AGAAGGGCAG GGGTTTATTA TTTCCTAGCT GCCTATCAAA
29350
GGGTTCTAGA GGGCATGA
T
T
T
T
T
T
T
A
A
G
T
T
A
T
T
G
T
T
A
T
A
C
T
T
T
A
A
G
T
T
C
T
29400 |
REPEAT
A
G
G
G
T
A
C
A
T
A
T
G
C
A
C
A
A
C
G
T
G
C
A
G
G
T
T
T
G
T
T
A
C
A
T
A
T
G
T
A
T
A
C
A
T
G
T
G
C
C
29450 |
var(29446):[A:0.03]
A
T
A
C
T
G
G
T
G
T
G
C
T
G
C
A
C
C
T
G
T
T
A
A
C
T
T
G
T
C
A
T
T
T
A
C
A
T
T
A
G
G
T
A
T
A
T
C
T
C
29500 |
var(29492):[T:0.01]
C
T
A
A
T
G
C
T
A
T
C
C
T
T
C
C
C
C
C
C
T
C
C
C
C
C
T
A
C
C
C
C
A
T
G
A
C
A
G
G
C
C
C
T
G
G
T
G
T
G
29550
T
G
A
C
A
T
T
C
C
C
C
A
C
C
C
T
G
T
G
T
C
C
A
A
G
T
G
T
T
C
T
C
A
T
T
G
T
T
C
A
A
T
T
C
C
C
A
A
C
T
29600
A
A
G
A
G
T
G
A
G
A
A
C
A
T
G
C
G
G
T
G
T
T
T
G
G
T
T
T
T
C
T
A
T
C
C
T
T
G
C
G
A
T
A
G
T
T
T
G
C
T
29650 |
var(29640):[A:0.01]
C
A
G
A
A
T
G
A
T
G
G
T
T
T
C
T
A
G
C
T
T
C
A
T
C
C
A
T
G
T
C
C
C
T
A
C
A
A
A
G
G
A
C
A
T
G
A
A
C
T
29700
C
A
T
C
C
T
T
T
T
T
T
A
T
G
G
C
T
G
C
A
T
A
A
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
T
29750
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
A
C
A
T
T
T
G
G
G
T
T
G
G
T
T
C
C
A
A
G
T
C
T
T
29800
T
G
C
T
A
T
T
G
T
G
A
A
T
A
G
T
G
C
C
A
C
A
A
T
A
A
A
T
A
T
A
C
G
T
G
T
C
C
A
T
G
T
G
T
C
T
T
T
A
T
29850
A
G
C
A
G
C
A
T
G
A
T
T
T
A
T
A
A
G
C
C
T
T
T
G
G
G
T
A
T
A
T
G
C
C
C
A
G
T
A
A
T
G
G
G
A
T
G
G
C
T
29900 |
var(29878):[G:0.01]
G
G
G
T
C
A
A
A
T
C
G
T
A
T
T
T
C
T
A
G
T
T
C
T
A
G
A
T
C
C
T
T
G
A
G
G
A
A
T
C
G
C
C
A
C
A
C
T
G
T
29950
C
T
T
C
C
A
C
A
A
T
G
G
C
T
G
A
A
C
T
A
G
T
T
T
A
C
A
G
T
C
C
C
A
C
C
A
A
C
A
G
T
G
T
A
A
A
A
G
T
G
30000
T
T
C
C
T
A
T
T
T
C
T
C
C
A
C
A
T
T
C
T
C
T
T
C
A
G
C
A
C
C
T
A
T
T
G
T
T
T
C
C
T
G
A
C
T
T
T
T
T
A
30050
A
T
G
A
T
C
G
C
C
A
T
T
C
T
A
A
C
T
G
G
T
G
T
G
A
G
A
A
G
G
C
A
T
C
T
C
A
T
T
G
T
G
G
T
T
T
T
G
A
T
30100
T
T
G
C
A
T
T
T
C
T
C
T
G
A
T
G
G
C
C
A
G
T
A
A
T
G
G
T
G
A
G
C
A
T
T
T
T
T
T
C
A
T
G
T
G
T
C
T
G
T
30150
T
G
G
C
T
G
C
A
T
A
A
C
T
G
T
C
T
T
G
A
G
A
A
G
T
G
T
C
T
G
T
T
C
A
T
A
T
C
C
T
T
T
G
C
C
C
A
C
T
T
30200
T
T
T
G
A
T
G
G
G
G
T
T
G
T
T
T
G
A
T
T
T
T
T
T
T
C
C
T
A
T
A
A
A
T
T
T
G
T
T
T
A
A
G
T
T
A
A
G
T
T
30250
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
A
T
A
G
A
T
T
G
T
A
A
A
A
30300
A
T
G
T
T
C
T
C
C
C
A
T
T
C
T
G
T
A
G
G
T
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
30350
T
G
C
T
G
T
G
C
A
G
A
A
G
C
T
C
T
T
G
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
30400
C
T
T
T
T
G
T
T
G
C
C
A
T
T
G
C
T
T
T
A
G
G
T
G
T
T
T
T
A
A
T
C
A
T
G
A
A
G
T
C
C
T
T
G
GAGGGC
30450
ATGATTTTTT AGACTAGAAA AGGGAGGCCA GCTAGACATA TAGGAATGAT
30500
A
AGAAGCTGT TAAGAGTCCT CTAAAGACAA AATCTCTAAG AACAAACCAA
30550 |
var(30501):[G:0.05]
GGAAACATAA GGTACTTGGT GTAAGGTAGT AAGGAGCACT TCTCAATAGA
30600
TTTCCAGTAA CAAGGCAGAC AGAACTGAAG TGGAAGGGAG CCACCTTGCT
30650
AAATTTAACA GCAAATGTTA CTGCATTCCA AAGTCA
A
A
G
A
A
A
A
T
A
A
A
A
G
G
30700 |
REPEAT
A
A
A
T
G
G
C
G
C
A
G
T
G
T
C
C
A
G
A
A
A
C
A
A
A
G
A
G
A
A
A
A
C
T
C
A
A
A
G
C
C
A
G
A
A
C
T
G
T
G
30750
A
C
T
A
G
A
G
C
T
G
A
T
G
C
C
A
C
A
G
C
A
G
A
T
C
C
T
G
G
G
A
G
G
T
G
G
G
A
G
T
T
G
G
G
T
C
C
A
G
G
30800
T
C
T
T
A
G
T
A
A
C
A
G
G
G
A
C
C
T
G
G
C
T
T
T
T
A
C
C
A
C
C
T
G
T
G
T
G
G
A
G
T
G
G
A
T
G
C
A
G
C
30850
A
A
T
G
T
A
G
T
C
T
G
G
G
A
A
C
T
T
T
G
G
A
A
A
G
G
C
C
T
A
A
C
A
C
C
C
C
T
G
C
A
T
A
A
G
T
C
C
A
G
30900
G
A
C
C
C
T
C
A
G
A
G
A
A
C
C
A
C
C
T
T
A
T
C
A
A
T
T
A
C
A
A
G
G
A
G
A
C
A
G
G
A
A
A
C
C
T
T
T
A
G
30950
T
A
G
C
C
C
T
A
A
G
A
A
A
C
A
A
C
A
A
A
G
A
A
G
C
T
C
T
T
T
A
G
C
T
T
T
A
A
T
A
C
A
T
G
G
T
T
G
A
C
31000
A
A
A
A
A
T
G
A
A
A
A
T
T
G
C
C
T
A
C
A
G
C
A
A
A
T
C
A
A
A
G
C
A
C
C
A
C
A
C
T
T
G
T
A
C
C
A
C
A
T
31050
A
C
A
G
T
T
A
T
G
A
G
T
T
C
C
A
A
A
T
C
T
G
T
T
A
T
A
C
A
T
A
T
A
A
T
G
C
A
G
A
A
A
C
A
C
A
A
G
C
C
31100 |
var(31051):[G:0.04]
A
A
A
A
A
A
T
T
A
A
A
A
T
A
A
T
A
A
C
C
A
G
C
C
A
T
G
A
A
G
A
A
G
T
G
A
A
A
T
C
C
C
C
A
G
G
G
C
T
C
31150
T
G
A
C
T
C
A
A
G
T
C
A
A
A
G
G
C
A
C
A
C
C
A
C
T
C
T
G
T
A
A
A
G
A
C
A
T
G
C
C
A
A
A
A
T
T
C
A
G
G
31200
G
C
C
A
A
T
G
G
A
A
T
G
C
C
C
A
C
A
G
G
C
A
A
A
A
T
T
T
G
G
G
C
T
A
C
T
G
A
A
G
A
T
A
T
G
C
T
T
A
T
31250
A
A
A
C
A
A
A
A
A
T
G
G
C
A
G
T
T
T
A
T
A
T
A
A
A
G
A
A
A
C
T
C
C
C
A
T
G
A
G
G AAACATGATA
31300
AATGCAAAGT AAATATAAAA AGGTAAAGAA ATAAATACCA TACTTAAAGA
31350
ATAGGGCAAT GCCCCAA
C
T
G
G
G
C
A
A
C
A
T
G
G
C
A
A
A
A
T
C
C
C
A
T
C
C
C
T
A
C
A
A
A
31400 |
REPEAT
A
A
A
T
A
C
A
C
A
C
A
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
A
T
G
G
T
G
C
A
T
G
C
C
T
G
T
G
G
T
C
C
31450
C
A
G
C
A
A
C
C
T
T
G
G
G
A
G
G
T
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
C
T
G
A
G
T
C
T
G
G
G
A
G
G
T
C
31500
G
A
G
G
C
T
G
C
C
G
T
G
A
G
C
T
G
T
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
A
G
C
G
A
C
A
31550 |
var(31548):[T:0.22]
G
A
G
C
A
A
G
A
C
C
C
T
G
T
C
T
C
A
A
C
A
A
C
A
A
C
A
A
C
A
A
A
A
A
A
A
TATA GGGCAATGTG
31600
AGAAAAACAG ATAAGTTTGT AAAACAGACA AATAAAACTT TTATCAATGG
31650
AAAATCGTTG
A
A
C
T
T
A
A
T
A
G
A
T
G
G
G
C
A
A
A
A
C
A
G
A
T
T
A
G
A
C
A
C
A
G
C
T
T
A
G
C
31700 |
REPEAT
A
G
G
G
A
G
T
T
C
A
T
G
G
G
C
T
A
G
G
A
G
G
T
G
A
A
C
C
T
A
A
A
G
A
A
A
T
C
A
T
C
T
A
G
A
A
T
G
C
A
31750
G
C
A
C
A
G
A
G
A
A
A
T
A
A
C
G
A
C
A
T
G
G
A
G
C
A
T
A
T
A
A
A
C
A
A
G
A
G
G
T
T
A
G
G
A
G
T
C
A
A
31800
A
A
G
A
A
G
A
T
A
T
T
A
A
C
A
A
G
A
A
A
G
T
T
C
G
A
T
A
T
T
C
A
T
C
C
A
A
T
T
G
T
A
G
T
T
C
C
A
A
A
31850
G
A
A
A
G
A
C
T
A
G
A
A
A
G
C
A
G
T
C
G
G
G
G
G
A
A
G
C
T
G
A
G
A
A
T
G
T
T
C
C
A
G
A
A
T
T
G
A
A
A
31900
A
A
A
G
C
T
A
A
G
A
A
T
C
C
T
C
A
T
T
T
A
G
G
A
G
A
A
C
T
G
C
A
T
T
G
A
T
T
C
C
C
A
A
G
C
A
A
G
A
T
31950
TAAAAAAAAA AATAAAACTT TCCTAACCTA AAAAGGTGAT GGAACAGATG
32000
AATTATACAA GTTGTCTTTT CTGAATAACT TTCAATACCA TGAAAGCAAT
32050
TCTCATTTGC AATTAGATTA AGTACAAACT GGTACAAATG CAAGGGAGAT
32100
GGCACAAATA ACCCTCAGAT TACCATTCTA CCCGAAATTC CGCATCTTCA
32150
CTTCACACAA AGATAGCAAA ACAAAGGAGA TTTATTTGCA TTTCTATTTA
32200
AGCAGCATGT CTCGCTAAAC TTTCTTTGAA CTTTTCTGCA CTAG
G
T
C
T
G
C
32250 | Exon 9
V C 377
A
C
T
G
A
C
A
T
T
G
A
T
G
A
G
T
G
T
C
G
A
A
A
T
G
G
A
G
C
G
T
G
C
G
T
T
C
C
C
A
A
C
T
C
G
A
T
C
T
G
32300 |
var(32278):[C:0.21]
T D I D E C R N G A C V P N S I C 394
C
G
T
T
A
A
T
A
C
T
T
T
G
GTAAGTA TTTCTCACAG CTGTTGTTAT CAAAGCAGAA
32350
V N T L 398
CCGGTTATTA AAACAAGTGT ATGTTTATAG ATCATAGCTT CCAAACACAC
32400
CTAGAACATG TGGGCATA
A
T
A
T
A
TTTGATT GGCAGAATAA AGGCAAAAGT
32450 |
var(32419):[:0.21]
TTGTGCTGAA AAAGTGTTTA ATATGAGTAA TTTTAAAAGT AATTTTTATG
32500
TAAGAATAAT TTTATAAGTG CCAAGTTCTT TATTTTCTAT CAAAGTTGCA
32550
ATATTAGGCT ATTAGATAAC TATTTATTGA GTAAATAATT ATTACTCCTG
32600
TATTTTAAAA TTGTGAAGAG CTTGGTAGTT TATATTAATA GTTCAGTATT
32650
TTACTGGTGA CTACACAATC CCCAAATGGC ATTATTTATT TTCATAAAAC
32700
TTTCA
A
T
C
A
T
G
G
G
G
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
A
A
C
A
T
G
G
T
T
A
A
32750 |
REPEAT
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
G
A
A
A
A
C
A
A
A
A
T
T
A
G
C
C
G
G
G
C
C
T
G
G
T
G
G
C
G
32800
G
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
T
G
G
A
G
G
C
T
G
A
A
G
C
A
G
G
A
G
A
A
T
G
A
C
A
T
G
32850
A
A
C
C
C
G
G
C
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
32900
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
C
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
32950
A
CTTTTCAAA ACTTTTCATT GTATTAAATT AAAGTGCTTA GCACTTAGGG
33000
ATGCCTATAA CTTAAGTATT CAGATATGGG TTTTATTTCT GAAAGTTCCT
33050
GTCAAACTGT GTCCAAGATG AGAGATGTAC CAGAGTTGAC TATCAAGAAA
33100
AGAACTACTG ATTACGTGTA TGACTATTTG AAAGTTATCC AGCCTCTAGG
33150
TTCCTTGTTT CCTTGTAAGT AA
A
A
A
C
A
C
T
T
T
A
C
A
T
T
T
A
T
C
A
A
G
T
C
A
C
T
T
A
33200 |
REPEAT
T
T
T
T
A
A
T
C
C
T
C
A
C
A
A
C
A
A
C
C
T
C
A
T
A
A
A
C
A
G
G
G
A
T
T
A
T
T
A
T
T
A
T
C
C
C
C
A
T
T
33250
T
T
A
C
A
A
T
T
G
A
A
G
A
A
A
C
T
G
A
G
G
G
A
C
A
G
A
A
A
T
A
T
T
A
CATCAT TAAGT
C
C
A
G
G
33300 |
REPEAT
C
A
T
G
G
T
G
G
A
G
C
A
T
G
C
C
T
A
T
A
G
T
C
C
C
A
G
C
T
C
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
C
G
A
A
33350
G
G
A
T
C
A
T
T
T
G
G
G
T
A
C
A
A
G
A
G
T
A
G
T
T
T
G
A
G
G
C
T
A
C
A
G
T
G
A
G
C
T
G
T
G
A
T
C
G
C
33400
C
A
C
T
G
C
A
C
T
C
T
A
A
C
C
T
G
G
G
T
G
A
C
A
G
A
G
G
G
A
G
A
C
C
C
T
G
T
C
T
C
C
A
A
A
A
A
G
A
A
33450
A
A
A
A
A
A
G
A
A
A
TGTTACGTAT TTAGACTAAG GTCACACATC TTC
C
A
G
G
T
T
G
33500 |
REPEAT
G
C
T
A
C
A
G
A
G
C
C
T
G
A
G
T
T
C
T
T
C
T
C
C
G
C
A
A
T
G
C
T
A
T
A
T
T
G
CT TAGGAATAGA
33550 |
var(33525):[T:0.01]
TGGGGATTTA TT
G
CTTCTCA GCTTTTACCA GGACAAAGTA GTCTGCAAAT
33600 |
var(33563):[A:0.02]
AGATTTGCGA GATCTTGGTG TAAAGGTAAT AACTGAGCCA CCTAGAGAGA
33650
AGGAAAGTAG ACAGTAAATA GAACTCCAGG AAACCCCAAA AACGAAGGAC
33700
TAGGCCAAGG AAAAAGAGCA GAAGCCAGAA AAAGGAGCGA ACTGATAGCA
33750
CAGCCAGGGA GGCTGAAAGA TCGAGACAAG TCATTGGAAA GCATGCATTG
33800
GATTTGGCAA CTAAGAGGTT GTGAGTGACT TAAATCATTA AACAATATAT
33850
ATACTTCAAA TGGATGTCTT TTACGACCTG TAAATGTTA
T
G
C
C
A
A
T
A
A
A
A
33900 |
NOT SCANNED
C
T
G
C
A
T
A
A
G
A
T
G
A
A
A
A
A
G
A
T
C
T
A
A
T
G
T
A
C
A
G
C
A
T
G
G
T
G
A
C
T
G
T
A
G
T
T
A
A
T
33950 |
REPEAT
A
A
T
A
C
T
A
T
A
T
T
A
T
A
T
A
T
A
T
G
A
A
A
T
C
T
G
C
T
A
A
G
A
G
A
G
C
A
G
A
T
C
T
T
A
A
G
T
G
T
34000
T
C
T
C
A
C
T
G
A
A
A
A
A
G
A
A
A
A
A
A
A
G
G
A
A
G
G
T
A
A
C
T
A
T
G
T
C
A
G
T
T
G
A
T
G
G
A
T
G
T
34050
G
T
T
A
C
T
T
A
A
C
T
G
A
C
T
G
T
G
G
T
A
A
T
C
A
T
T
T
C
A
C
A
A
T
G
T
A
T
A
C
G
T
A
T
A
T
C
A
C
A
34100
T
C
A
T
C
A
C
A
C
T
G
C
A
C
A
C
T
T
T
A
A
A
T
A
T
A
T
T
C
A
G
T
T
T
T
G
T
C
A
A
T
T
A
T
A
C
C
T
C
A
34150
A
T
A
A
A
G
A
T
G
A
A
A
A
TTTTAAT TTTCATTTTT TAAACATATT GTATAATATT
34200
TATTACATAT ATAGTGTGCA GTGTGATAAT ATATATTATA TATATAAAAG
34250
CTAAAAAAAC CTGGCCCCTG AAGTGTCATT GCAGC
G
GAGC TGACAGCTCA
34300 |
var(34286):[A:0.32]
TTTGTCAGTT TCTCAGCCTA CCTCATCAGA AATTCTCAAT GCAGGCCACC
34350
AGCATTTCTC TGTGCACCCA TTCCTTTGTC ATTCCATTGT AAAAGAGCCA
34400
AAGGAACAGC AATAAGAAAA ATTAACTTGC TTTTTAAGCA GATCATCTCC
34450
CTGTCCCCAG AGTAAACTTC TCACACCACC TCCCAGGACT TCACTGGAAC
34500
TTTTGACCTG TCCCCTATGC CCTCCACGGT GGCGCGGGCA ACTCAGTGTC
34550
ATTGGTTCAC AGTCCAGCCT TCTTCCTTCA CTTCTATTCC TTCTTTGTCT
34600
GAGTGGCCGG ACGCAGCCTC CAGTCTGATG GTGTTTTCAT CAACATTCAC
34650
ATGATCTTAC ATGTAAGCAA AGAAGAAGGC ATGGATCTGA TGCCTGATTC
34700
CTGCCAGCAA TGAGTACCTG TGAAAATATA CACAATAACT GTACCTTTGC
34750
TCAAACTGTA CCTTTGCCCA CAGCTTTCAG CTCATCACCT GATCTTTGTT
34800
CCTTGCAG
G
G
A
T
C
T
T
A
C
C
G
C
T
G
T
G
G
G
C
C
T
T
G
T
A
A
G
C
C
G
G
G
G
T
A
T
A
C
T
G
G
T
34850 | Exon 10
G S Y R C G P C K P G Y T G 412
G
A
T
C
A
G
A
T
A
A
G
G
G
G
A
T
G
C
A
A
A
G
C
G
G
A
A
A
G
A
A
A
C
T
G
C
A
G
A
A
A
C
C
C
A
G
A
G
C
T
34900 |
var(34873):[T:0.01]
D Q I R G C K A E R N C R N P E L 429
G
A
A
C
C
C
T
T
G
C
A
G
T
G
T
G
A
A
T
G
C
C
C
A
G
T
G
C
A
T
T
G
A
A
G
A
G
A
G
G
C
A
G
G
G
G
G
A
T
G
34950 |
var(34946):[A:0.01]
N P C S V N A Q C I E E R Q G D 445
T
G
A
C
A
T
G
T
G
T
G
GTAAGTTGT TTTTTGACTT CCTCTATCAT TTTTCCTCTT
35000
V T C V 449
CCATTTTTAA CACCACCTCT CTCCAGTTTC TATGTGCTTC AGGGTAAAAG
35050
TACTCCAAAA TGAAAGCATT GCAATTAAAT GAGCATGGAG TGTAATAGGA
35100
ACAGGGTCCA CCGAGTTTGT GGGGAGCAGC CTGACATCCA TCTAACCATC
35150
AGCTGCCTTT TCTCTCCCTC TTGGCTGGGG GGCAACCCTG TCCACTTGGG
35200
TACCTGGATG CCAGAGCCTC CGGTGAAGCC CCAGCTCCCA AGCACCTTCT
35250
ATGGAAAGGC CCAGAAGCCA GCAGCAGGGA GGTGAAGGAA CATTCTTCTC
35300
CCCTTTCCTT CTTCTGCCCC ATCTACCTGC C
T
GTATAATG ACAACATACC
35350 |
var(35332):[C:0.01]
TGCTGTCATC TCTAACTGTC CTCATCCTTA CAACTTCCAG AGTCTGTCTG
35400
CCTTGACGCT CC
T
GTTGGGG GTGGGCCATC GTGTAGAGGT GGGGACTGTC
35450 |
var(35413):[C:0.01]
ATAGTCCCTC CGGGAGAAAC CTTCCGTCTT TGGCAGGTGA CTGGCAGGGC
35500
CAGACGGCGC CATGCTGTAT GTCTACCTCC ACTCCAATCA GGGACAGCTC
35550
CATGAATGGT CACGCT
T
C
C
T
G
T
G
C
A
T
T
C
T
C
C
A
G
C
C
A
C
G
G
A
G
C
T
G
G
T
C
T
G
G
35600 |
NOT SCANNED
G
G
A
G
G
G
G
A
G
G
C
T
G
G
G
A
A
G
A
G
A
G
T
A
G
A
G
C
A
G
T
C
A
C
A
G
C
A
G
G
G
C
C
T
G
A
C
A
T
G
35650
G
G
T
C
C
C
A
T
G
C
T
G
A
G
C
T
T
G
T
A
G
T
G
G
G
C
C
C
T
A
T
G
T
G
A
A
G
G
A
G
A
G
G
G
C
A
T
G
C
T
35700
C
C
T
G
C
C
A
T
C
C
A
T
T
C
C
C
A
A
A
T
C
C
A
A
G
G
A
T
C
C
A
G
A
G
T
C
C
T
C
A
G
C
C
T
G
C
C
A
T
C
35750
C
A
T
TCCCAAA TCCAAGGATC CAGAGTCCTC AGCCTGCCAT CCATTCCCAA
35800
GTCCAAGGAT CCAGAGTCCT CAGCCTGCCA TCCATTCCCA AATCCAAGGA
35850
TCCAAAGTCC TGGGGATCCT AGGCACTGAA AAATCAGCAG ACTTCAGCTG
35900
CCCCCCTCCT CTGCACTTCC TGGGATGCCA GGCCCTCGGC CGGTGGCCCG
35950
TCAGACTCTG GGGTCACTGG TTCACAGTGA TCACCCCTGA GTAGCAAGAT
36000
GGATTCTCGG AGCCCTTTTC C
A
TCTTTATC TCAAAGTTAT GCTTCTTTAT
36050 |
var(36022):[G:0.36]
CTTTATGCAT ACACAATTTT CCACAATGAG CCTACCACTT TTCAAAT
A
GG
36100 |
var(36098):[G:0.01]
AAAAATAAGA GTCAAAAATG AGTTAATAAA TAAATATAAT GAAGTCAGCC
36150
CTCCTTGGCA ATACAGATAT TCTGTAACAA GGTCAGATGG AAGAATGTGG
36200
TGTATCAGAG GGGGAATAAC CCCAGCAATT TCCTGAATTC CTCATGGTTG
36250
GGCTTGTTTA TTACCAAAAA GCAGTCATTG AGAAACAAGT GTATATCTCT
36300
GTTGAAATCC CCATTTTCTG TGAACAAATT GACAACTCCC CTGGGATGAT
36350
GGGTGATGGG GCTCTTAATA TGTTTTTGAA TTTGTAATAA GGCAC
A
ACGA
36400 |
var(36396):[G:0.01]
CAGATGGTAA AGGATTAATA AACTTGGCGT GACTACTAAA ATAATTGAAT
36450
CTGCCAGAAA ATAGCTCATT AAAAATGTAT TTGTTCCTAG AGGACATTTT
36500
TTCCTCATTA AAGTGAGTCA AGGATCAGCC TCGTGGATCA GCCTTCCAGG
36550
CCTTCCAAAG GCCCTGCTGG GGCAAGTGAG CAGGAACCAG GAGCCCGGGA
36600
GGGTCTCTCT GGAGTTCTGC CTCCTAAATC CTGGTTGCAG AGGGAGAGCA
36650
CAGATGATTG AGAATAAGCA GGCTGTGGCT GAGGAAGTCA CTGGTCTGAA
36700
AGCTTTTGGG TGGTGAGGCC AGGAAATTTA ACCTGTGCTC ACATAAGTCT
36750
GATTTCCCTT GGCCCAGACT CTGCTCCTCA GACTCTCTCC CTCTTCCTTC
36800
CTTTACCTCC CGTCCCAGGT CAGCTTTCTC TCCCTCTG
C
G TTTCCAGTTC
36850 |
var(36839):[T:0.01]
CCTGTGACCT TCTGGGTCCC CTCCTCCCAT CTC
C
CTTCTG CTGCTCTGCC
36900 |
var(36884):[A:0.01]
TGTTCCTGGA AGTGGGAGTG GGAGGGAGAG TTTTCTCTCT GAGTCTCCCT
36950
TTATATC
T
TT TGAATAGTGA ACCATTACAC TATTCAAGTG CAATTAAATA
37000 |
var(36958):[:0.38]
GTTTCTAAGC CCCACCCAAC AAGGCTGAGT GACTCTGGGC CCTCCCCCTG
37050
GGATTGAGCA AAGGAGCAGA GAGGCCCTTG TCAGCCACCA GCT
T
CCTGCC
37100 |
var(37094):[C:0.35]
AGGCTCAGCT TCCCAGGCCT CTGATGGGCT TTCCCTTTAC AG
T
G
T
G
G
A
G
T
37150 | Exon 11
C G V 452
C
G
G
T
T
G
G
G
C
T
G
G
A
G
A
T
G
G
C
T
A
T
A
T
C
T
G
T
G
G
A
A
A
G
G
A
T
G
T
G
G
A
C
A
T
C
G
A
C
A
37200
G W A G D G Y I C G K D V D I D 468
G
T
T
A
C
C
C
C
G
A
C
G
A
A
G
A
A
C
T
G
C
C
A
T
G
C
T
C
T
G
C
C
A
G
G
A
A
C
T
G
T
A
A
A
A
A
G
GTA
37250
S Y P D E E L P C S A R N C K K 484
AGGGGTGTGG GG
T
GGCAGTA GGCACACATG CACTGTGGCT TTCCAAAGTC
37300 |
var(37263):[G:0.38]
ACATCTTCTA TGGGGAGAGG TTCTGTGGAT CTAATTTAAA ATTGTACTTG
37350
TAAAGTAGCT GCATCTCAGA GGAAGTGAAA CAGCCACCAA CAATAAAGCC
37400
ACAGTGTCTT GAGGTCAGAA ACAGTTACTG GCTTAACACA AATGTAGGAT
37450
GTCACTCGGA ACTGCATTTT CCCCCTAAG
G
A
C
A
A
C
T
G
C
A
A
A
T
A
T
G
T
G
C
C
A
37500 | Exon 12
D N C K Y V P 491
A
A
T
T
C
T
G
G
C
C
A
A
G
A
A
G
A
T
G
C
A
G
A
C
A
G
A
G
A
T
G
G
C
A
T
T
G
G
C
G
A
C
G
C
T
T
G
T
G
A
37550
N S G Q E D A D R D G I G D A C D 508
C
G
A
G
G
A
T
G
C
T
G
A
C
G
G
A
G
A
T
G
G
G
A
T
C
C
T
G
A
A
T
G
A
G
C
A
G
GTA CCTGCTTCGC
37600
E D A D G D G I L N E Q 520
TGGGAGGGCC TGTGAATTGC CACGTACCAG GGATGATGGG AGAAA
G
CCTG
37650 |
var(37646):[A:0.02]
TGATGTCAAC TATGTATATG AATCATCCCA AATGTTAGTT TCCATGCCTG
37700
CATTCCACAG CACTGCAGCT TTTTACCCTA TAAGATTCAC AGATGTTTGA
37750
AATATAAAAC TGACAAACTT GGGCCACCAG AGTGCTGATG CTTCACAACA
37800
ATGGAGGAAG TGGATTTAGT AAAAGTCTGA GTGATGTTCT GTCCTTTCAT
37850
CTTTTAG
G
A
T
A
A
C
T
G
T
G
T
C
C
T
G
A
T
T
C
A
T
A
A
T
G
T
G
G
A
C
C
A
A
A
G
G
A
A
C
A
G
C
G
37900 | Exon 13
D N C V L I H N V D Q R N S 534
A
T
A
A
A
G
A
T
A
T
C
T
T
T
G
G
G
G
A
T
G
C
C
T
G
T
G
A
T
A
A
C
T
G
C
C
T
G
A
G
T
G
T
C
T
T
A
A
A
T
37950
D K D I F G D A C D N C L S V L N 551
A
A
C
G
A
C
C
A
G
A
A
A
G
A
C
A
C
C
G
A
T
G
G
G
G
A
T
G
G
A
A
G
A
G
G
A
G
A
T
G
C
C
T
G
T
G
A
T
G
A
38000
N D Q K D T D G D G R G D A C D D 568
T
G
A
C
A
T
G
G
A
T
G
G
A
G
A
T
G
GTA GATTTATCTT GCTTTTGTCT TTTATTTGGA
38050
D M D G D 573
ATTCAGTTGA CCTTGTTCCA TTGTTCTCTG AGAGAGTAGG AATAGAATGA
38100
CTGATTCGGA GCCTTCCAGC TGTGGGTGGC TCATTGTGGC CTGCATCTGG
38150
AAGACCCAAG GTGGACTTGT GTCTATGGAA GGAGACCCCA CAGCCCACTC
38200
CACTACCTAA TGGCTCTGGA TGTTTCCAGG ACTCTGTATC ATTGCCAGAA
38250
ACTTTGTATG ACCCCTTCAA GCAGTGTCTT GTCAGAGTGT GTCTTTATGG
38300
GGTATCTCCC TTCCCATTTC TACCTGTCCT CACTCTCCAC TATCCTTTCT
38350
ACATGTGAGA GACCCAGAAG TGGAGAACTG AATGAGAAGG CATTGAGCAG
38400
GGTCACAGAC TATGCATCAC AGGCTACACA TCCCATTGTG GGCCCTTGAA
38450
GGAAAAACCT TTTTGAAATA CCACCTGCCC CAACACACAC ATACACACAC
38500
ACACACACAC ACACACACAC ACATACACCA CTCCAGAACA TGCACACCCC
38550
CCTAAAACAT GACCTCACCT TCTGCAAGCC TAACTGATGA CCCATTTCCA
38600
GTGGTATATG CTGGTAAGCA AATCAC
A
G
A
A
A
G
C
C
C
T
A
G
T
T
G
G
T
A
G
C
A
T
T
T
38650 |
REPEAT
|
var(38629):[G:0.01]
T
C
C
A
G
T
T
T
C
C
A
T
G
A
T
G
T
A
A
C
T
C
C
G
C
A
T
T
G
T
C
C
T
C
A
T
T
G
C
T
G
A
T
T
T
C
A
A
G
C
38700
T
A
C
C
A
A
T
G
T
G
A
C
A
T
C
A
T
C
A
A
A
C
A
C
A
A
A
A
C
T
G
A
A
A
A
G
A
G
A
G
G
G
A
C
A
C
A
A
T
G
38750 |
var(38710):[T:0.04]
G
A
C
C
C
A
G
C
T
C
C
A
G
C
A
C
A
A
C
A
C
T
G
CCTAGAG CCCTAGGGTC TCAGTCATAG
38800
CTCAGATACC CACGAGATCC TCCCTCTCCA GGGTCAGCCA TACAGCCATC
38850
ATGATCCCCT CCTCGTGGTT GCTATCATAG CCCTTGACAT CTTGGACAAA
38900
TTAGAATTCA GTCGATAAAT ACCTCTGAGA GCTGTTCATT TTTAAGTCTC
38950
CCAGAATCCG TCCTTTGAAG CTACCTCTGG ATAACTGCAG AAAAGGGTAG
39000
TCTCTGTGTG ACACTGGCCC AGGCAGAAGC GACTCACCAT GCGCCTGATC
39050
TCTCCAGCAC CTAGAAG
A
A
G
TCAGTGACAT TCCCCTGACT CAAGGTAGCA
39100 |
var(39068):[:0.28]
TTTCTTTCTC ACAG
G
A
A
T
A
A
A
A
A
A
C
A
T
T
C
T
G
G
A
C
A
A
C
T
G
C
C
C
A
A
A
A
T
T
T
C
39150 | Exon 14
G I K N I L D N C P K F 585
C
C
A
A
T
C
G
T
G
A
C
C
A
A
C
G
G
G
A
C
A
A
G
G
A
T
G
G
T
G
A
T
G
G
T
G
T
G
G
G
G
G
A
T
G
C
C
T
G
T
39200
P N R D Q R D K D G D G V G D A C 602
G
A
C
A
G
T
T
G
T
C
C
T
G
A
T
G
T
C
A
G
C
A
A
C
C
C
T
A
A
C
C
A
G
GTTAGTA GGATACTGGG
39250
D S C P D V S N P N Q 613
GAATTCAAAC TCCAGGCTGA ATTCCTCTAT GCAAAGACTC ATTTAAGACG
39300
GGTGTCTAGA AAAACAGCAG AGCCTCTTAG CTGTTGCCAC TTACCTAACA
39350
AAGCAGAGGT GGAAAAATGA CACACTGTGG GCCTGAAGAT GGTGGGATGA
39400
ACACC
A
CACA AGATCTGAAG CCCTAGGGAC TATCTCCCAG GCTGTCGATT
39450 |
var(39406):[G:0.19]
GCCTGTGAGG TTAGTAACAC GAACTTCATG ATGCTCAATA CAAGTATTTT
39500
TCCTGCAGAA AGGAAAACGG AGCATGGAAA TTAACCATTG GGAGCCTTGT
39550
GTCCCTTTAG TCCCTAAACC CCTACACAGC CTATGTATGG ACATTTCAGA
39600
TTAAGTTCAG CCAGGGATGT GTTGCATCTC CCTTCTCACT CCTCCTCCCT
39650
GTCTGGATAA TTGGGTATGA TGTGTCATTT ATTTTTAAAG CCCTGAGAGA
39700
GGGGAGTCAT GGTTGCCCTC TGTGACTCAC TCATGATTTT GGCCAAATTG
39750
CAAATTGCAG AAGCAAAGCA AAATCAACCT GCCTTCTCCC CATGCCTATG
39800
GCTGGCTCCC TGTGACCCGT GCCAGAGTTC CATGCCTCCA CCTGCCACCA
39850
TGCTACCCCA GCGCCCCTTT CCAATCAGCT CATCTGGTGT GTGGGCAGCC
39900
CATCCATGTA GCTTGATATT TTAGAAGGCT TTTTTGAAAA TTCAGCATTG
39950
TGCCTACACC AATATGGTGT TGTCCTTTTG CAGTTTTGCA CCACCCCGGT
40000
TCCAGAGAAA TAATTCCCCA AATCCAATGA TGATGGGTGA GGTCTGCCTT
40050
CTCTGGAACA TTCGGTACAT GCAGGCCCAG GAATAAATAA CATGTGCTGT
40100
TCTCTTTGCA G
T
C
T
G
A
T
G
T
G
G
A
T
A
A
T
G
A
T
C
T
G
G
T
T
G
G
G
G
A
C
T
C
C
T
G
T
G
A
C
40150 | Exon 15
S D V D N D L V G D S C D 626
A
C
C
A
A
T
C
A
G
G
A
C
A
G
GTATGG CATGTCTCCC AACTGCAGAG AGACAGATGC
40200
T N Q D S 631
AAACATCCGG AGAGGG
T
T
T
T
T
G
G
T
T
T
G
T
T
T
T
T
T
T
T
T
T
T
G
A
G
G
C
G
G
A
G
T
C
T
40250 |
REPEAT
C
A
C
T
C
T
A
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
A
C
A
G
T
G
G
T
G
C
A
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
40300
A
G
C
T
C
C
G
A
T
T
C
C
C
A
G
G
T
T
T
A
T
G
C
C
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
40350
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
G
C
T
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
G
T
A
T
T
T
40400
T
C
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
40450
G
A
C
C
T
T
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
40500
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
A
G
C
C
CGGAGAGGGT TTTAAATTTC AGAACTTCCT
40550
GCTGCTCCAT TCCTTGGGAT CTTTCTGGGT GGACTGAGCT GCTGGTGGGA
40600
TAATAGCCCT GCCTCTGGTC AGAATTACCA TGAAAATTCT CCCTGAAAGT
40650
TCTGTATAGG GTATAACGGT GTCAGAATAG GTTACTTAGG CACTCCAGCA
40700
AGTGAGATCT ATTTCAGGAG AGGT
A
A
T
A
T
A
G
C
A
T
C
A
T
G
C
T
T
C
A
C
A
G
A
T
G
G
40750 |
REPEAT
G
C
T
C
T
G
G
A
A
T
A
A
G
A
C
A
G
C
T
A
G
A
T
A
T
A
A
A
T
T
T
C
A
G
C
T
C
C
T
T
C
T
C
T
T
A
C
A
T
G
40800
C
C
A
G
C
T
A
A
C
C
T
T
A
G
G
C
A
A
A
T
T
A
C
C
T
A
A
T
A
C
T
T
T
T
G
C
C
T
C
A
A
T
T
T
T
C
T
C
A
T
40850
C
T
G
T
A
A
A
A
T
G
A
G
G
A
T
G
A
C
A
A
T
A
G
A
T
C
T
A
G
C
T
C
A
T
A
G
G
A
C
C
A
T
C
G
T
G
A
A
G
A
40900 |
var(40893):[A:0.04]
T
T
G
A
G
T
T
G
A
T
C
C
A
T
G
G
A
A
A
G
T
G
C
T
C
A
T
T
A
T
G
G
T
T
T
C
T
G
T
T
A
T
A
T
A
C
A
T
A
G
40950
C
A
C
T
C
A
A
T
A
G
A
C
A
T
T
A
G
C
T
C
T
T
TTATTTTT ATATTCTTTC AGCTCAGGAA
41000
AACTTCACCA TCATCCCAAA ATAGAAGGCT GTCAGTTTGC TGAGGGATTG
41050
CTATTATTTC CTGGTCCTTG AAATTTTTTT AATTCAGTTT TCCTTATTTA
41100
AGTGGAATTG TTCTGTGGAA GTGAGTTTTG TGAACCCTCC TAGCTCAACA
41150
CGATGGAGTC CCACATTAAG ACTCAAGGCT GGATCAACTG ATCAGATTCT
41200
GGAAGAACAT CACCAAAAAC AGACGTGTGT CACTCAGCCC TAGCGGCACC
41250
TGCAACCCAA G
G
TTCTAAAC CCTTTTGTCT CCATAGGGAA TTCTTACAAA
41300 |
var(41262):[T:0.06]
GGCAGCCAGG ACAAGGATGA GAGGGAAAGG ATTCTAAAAG AGAAAGCAAA
41350
AAAAGATG
T
A ATTTCTCTCC TGATACCTGG ATCAGAGGTT GCCCTGCAGA
41400 |
var(41359):[C:0.38]
AAACCAGTTC CTGACCCAAA CCTTACTCAA GGACAGCTCC TATGAAGCCA
41450
CAGCTCTCTC TCTC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
41500 |
REPEAT
A
C
C
C
A
G
G
C
T
G
G
C
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
41550
A
A
G
C
A
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
A
C
T
C
C
C
A
C
G
T
A
C
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
T
41600
G
C
C
A
C
C
A
T
G
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
A
G
T
T
T
C
A
C
C
41650
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
C
T
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
T
G
C
C
41700
T
C
A
T
C
C
T
C
C
C
A
A
A
G
T
G
TGCA TCTCTTTCAT TATGCTCTGT GTCCTTGCTG
41750
CAAAGTACAT AT
A
G
T
C
A
T
C
C
C
T
C
A
G
T
G
T
C
C
C
A
G
G
G
T
A
T
T
G
G
T
C
C
C
A
G
G
A
T
41800 |
REPEAT
A
C
C
C
C
T
C
T
G
C
C
C
C
C
A
G
G
A
T
A
C
C
A
A
A
A
T
C
C
T
C
A
A
A
T
A
C
T
C
A
A
G
T
C
C
C
T
T
A
T
41850
A
T
A
A
A
A
T
G
A
T
G
T
A
A
T
A
T
C
T
G
C
A
T
A
T
A
A
C
C
T
A
T
A
C
C
T
G
T
C
C
T
C
C
T
A
T
A
T
G
C
41900 |
var(41881):[G:0.21]
T
T
T
A
A
A
A
A
T
C
C
T
C
T
C
T
A
G
A
T
T
A
C
T
T
A
A
T
A
C
C
T
A
A
T
A
C
A
A
T
G
T
A
A
A
T
G
C
T
A
41950
G
G
T
A
A
A
T
A
G
T
T
A
T
T
A
T
A
C
T
G
C
A
T
T
G
G
T
T
T
C
T
T
A
T
T
T
G
T
A
T
T
T
T
T
T
T
G
G
T
G
42000
T
T
A
T
T
T
T
T
T
A
T
T
G
T
T
C
T
T
T
T
T
C
A
A
A
T
C
T
T
T
T
C
A
A
T
C
C
T
C
A
G
T
T
G
G
T
T
G
A
A
42050
T
C
T
G
C
G
G
A
T
A
C
G
G
A
A
C
C
G
C
G
G
A
T
A
C
A
G
A
G
G
C
C
T
G
A
C
T
G
T
A
C
T
A
G
C
T
A
A
G
T
42100 |
REPEAT
G
A
A
C
T
T
A
A
A
C
A
T
A
T
T
T
C
C
C
A
G
T
C
T
C
T
T
C
A
C
A
T
C
T
C
A
A
C
T
T
C
T
T
C
A
T
C
T
G
C
42150
A
A
A
G
A
G
G
A
G
A
T
A
A
A
T
A
A
A
T
G
C
A
T
C
G
C
A
C
A
G
G
T
T
A
T
G
G
T
G
A
A
A
A
A
T
C
A
A
G
A
42200
T
A
A
T
G
T
A
G
G
T
A
A
A
G
C
T
C
C
C
G
G
C
A
C
A
G
T
G
C
T
G
G
C
C
C
A
AGGG TGACATG
C
AG
42250 |
var(42248):[A:0.01]
AAAACAGGGG CCGTGTTATT ATTGGTATCA CAGTACAAGG AAAGGCACAT
42300
CAGCAACAGA GCCTGACATC AGATGTCCCT CTCCTCTTCC GAGAGGAAGG
42350
TGGGACTGTA TCCTGACAAC TGCCCTAAAT GATGTGCGTC AAGAATGTTC
42400
CCTGGTGCAG GTCATCTTGC ACTCTGACTA CTATCTACAT TAATTTCTAA
42450
AATATCCTGT CCCACCAGCC TCTAGATATT TGCCCAAAAC AAATGACTCA
42500
TTCTGCTATG TTTTAATTCC CACAAAGTTG AACCTTGGAG AAGAGGATAG
42550
GAACTGCTTG TTTTTGCATA AAAATGTTCA GGGCTACATA GAACGGCTGC
42600
TAATGGAAAT AGCTCAGTCT TGTGTTTTAT AAAGCAGACC TGCTGCATGC
42650
ACAGGGATTC TGCTGTTTGA GCCACATCAT TTTCTGCTTG TCAAGGCTGA
42700
CTTCACTTTC ACTGGACCCT TTCTGTCCCC CTGTACCATG TGGTAGGTGT
42750
GGCCCTAGAG CATGGTCTGG TCCCTGGCTT CCCTCTCCAA AAGGGTGCAG
42800
GGGCAGCTCC TGGCCCAGGA CAGGCCGCAG GTGGACCAGG TCTAAAGGAG
42850
TGCTCATTCT TTTCCAGAGT AACCATGAGA GGTCTCAGAC TCCAGGACAC
42900
CTCTTGGAGG CAGGGCAGAC TCATCTTCAG GTGGCCCCTC AGCCCAGAAA
42950
GTCAGGTGGA CAGAGAAGGA GAGTTCTGAG AAGTCCTTTA GACCAGCACT
43000
GAGCCCGGCC TACACACTCT CCTCGAGAAG GCGTGGCCCT GTTCACTTTG
43050
CCCTTCTCCC CATGGCGTTC AGGTCTGAAT CCTCATTGGA TCCACTAGCC
43100
AGGGATTGTG AAGAGTAATA TAACGGAAAA CACTGTAGGG CTTCCTAAGA
43150
GTCAGCACTT TTTCATATAT TGAAATTTAA TATGCAACAT TCTGATTTTC
43200
A
T
C
A
T
T
T
A
A
T
C
T
C
C
A
T
A
A
C
A
A
C
T
C
T
A
T
G
A
G
G
T
A
G
G
T
A
C
T
A
T
T
C
T
C
A
T
T
T
T
43250 |
REPEAT
A
C
A
G
A
T
G
A
G
G
A
C
A
C
T
G
A
G
C
C
A
T
A
G
A
G
A
G
G
T
C
A
G
G
T
G
T
C
A
T
G
C
C
T
G
A
G
G
T
C
43300
A
C
A
C
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
G
A
G
C
C
A
G
G
A
T
T
T
A
C
A
C
T
G
A
G
G
C
T
G
T
C
T
G
G
T
43350
T
C
C
A
C
T
G
C
C
T
G
T
C
A
T
T
G
T
T
C
C
C
C
T
C
A
C
A
C
A
T
C
C
T
C
T
G
AGT TGAGTATCAT
43400
CTAGCAGTTC CCAGGGACTG ACTGATAGGA GCATCTGGTC ATAAATCATA
43450
GAAATAGACC CTTATCTTCT TTAGTAGGAA ATGACTCACT TGTTTTAAGA
43500
GGTTGGGGAT GGGAAAATTG TCTCTGAGGC CCATAGGGCA GCCTTATCTA
43550
AGGGAATGAC CCCAGTGGGT TTGATTTTAA GAGCCAACCC TGGTTTAAAA
43600
AAAACCTCAA GCACAGACTC TCCTTCCTAA AAATGGATCC TTCCTGTTCC
43650
CTGCTGAACT GTGAGCCACA TCACCTGTCC TTTCTCCTGC AG
T
G
A
T
G
G
A
G
43700 | Exon 16
D G 633
A
T
G
G
G
C
A
C
C
A
G
G
A
C
A
G
C
A
C
A
G
A
C
A
A
C
T
G
C
C
C
C
A
C
C
G
T
C
A
T
T
A
A
C
A
G
T
G
C
C
43750 |
var(43736):[A:0.03]
D G H Q D S T D N C P T V I N S A 650
C
A
G
C
T
G
G
A
C
A
C
C
G
A
T
A
A
G
G
A
T
G
G
A
A
T
T
G
G
T
G
A
C
G
A
G
T
G
T
G
A
T
G
A
T
G
A
T
G
A
43800
Q L D T D K D G I G D E C D D D D 667
T
G
A
C
A
A
T
G
A
T
G
G
T
A
T
C
C
C
A
G
A
C
C
T
G
G
T
G
C
C
C
C
C
T
G
G
A
C
C
A
G
A
C
A
A
C
T
G
C
C
43850
D N D G I P D L V P P G P D N C 683
G
G
C
T
G
G
T
C
C
C
C
A
A
C
C
C
A
G
C
C
C
A
G
G
A
G
G
A
T
A
G
C
A
A
C
A
GTAA GCAGGCTCAG
43900
R L V P N P A Q E D S N 695
CCCAGAGCTG CACAGCACCC CTGGGCTCCC TTCAGCCAGG CACATGGGGG
43950
CACGCCTCTC TCCAGGCACC AACTCAGAAT ATCCCCAGCT CCCATCAGCT
44000
GCTTCTCTAC ACCCAGCTTC TCTGCATAGC TGCAGCTTGT GTGGACAGCA
44050
GATATCTGGT AGACACCAGT CTCCAACTCA GTCAGGACTG AGCTGCTTTG
44100
CATCTTCCTG AACAACCCTA GGATGCCATC ACACAGGTCA GGGAAGCAGC
44150
CACACACTGT GGCTCAGTCC CCAAAGGGCT TGGAGAGCTG CTCCACCATC
44200
TTACCTGTCA CCTGCCACCT TCCACTGGGA GTCCCAGAAA AGGAGCAGGA
44250
TAGAGAGAAT GGCACAGTAG AAGTGGTATA TGCTGGGTTC ACAAACACAG
44300
ATGCCTGCAG GTGCCAGGCA GATAAGAAAA TGTCTGCACC AAGCCAGACA
44350
TGAGACAGCA GGGAGTGTTG GGGACTGAAG TGACCTGGAG AGGGCATGCC
44400
CATCCACAGC AGTGCACATG CAAAAATGCC AGCACGTTAG CTGAACAACA
44450
CACACGTGGG GGCCACCAGA AGTTAGTGTT AGAGATATTC TGGTAACAAT
44500
AATTTCCCTG TTTTCTACAC ATTACAGTCC AGAAAGTGCT GTAGACATTT
44550
GCTTATGTGA GGTCAAGCTT AAGATCCACC AGTTGGTGAA CTCAACTGTA
44600
GGTAATAAGA ACTTCTTGAG GACAGAGTGG AGGGCAACTG CTCAAATTGA
44650
TCTTTCAAAA AACTCTGGGA GGACTGGCCT GGTCACCCAG TACAAGGACT
44700
CCAGAATGGG GCCTGGCACC AGCTCAGACA TGTCCCCAGG GCTCCTCTCC
44750
CAACACTGAT GGGAAATCAT GGCCCTGGTT GTGGGAGCTT GAGCCCTTCT
44800
GTTCCTCATG CAGCCCC
C
TT CCCTGC
C
AAG GAGTGGCGGT GGGTGTGAGC
44850 |
var(44818):[T:0.30]
|
var(44827):[A:0.01]
GCTATTGAGC TCCTGTCCTT TCTCCACCCC ACTCAG
G
C
G
A
C
G
G
A
G
T
G
G
G
A
44900 | Exon 17
S D G V G 700
G
A
C
A
T
C
T
G
T
G
A
G
T
C
T
G
A
C
T
T
T
G
A
C
C
A
G
G
A
C
C
A
G
G
T
C
A
T
C
G
A
T
C
G
G
A
T
C
G
A
44950
D I C E S D F D Q D Q V I D R I D 717
C
G
T
C
T
G
C
C
C
A
G
A
G
A
A
C
G
C
A
G
A
G
G
T
C
A
C
C
C
T
G
A
C
C
G
A
C
T
T
C
A
G
G
G
C
T
T
A
C
C
45000
V C P E N A E V T L T D F R A Y 733
A
G
A
C
C
G
T
G
G
T
C
C
T
G
G
A
T
C
C
T
G
A
A
G
G
G
G
A
T
G
C
C
C
A
G
A
T
C
G
A
T
C
C
C
A
A
C
T
G
G
45050
Q T V V L D P E G D A Q I D P N W 750
G
T
G
G
T
C
C
T
G
A
A
C
C
A
G
GTGAG TGTCACATGG GCGGCAATGG CTCAGCCTTG
45100
V V L N Q 755
CCTCTCAACA GAGGCCCTTC TGATAGTGGT AGGTC
A
T
G
T
T
T
A
G
A
G
G
G
T
G
C
45150 |
REPEAT
A
G
A
C
A
A
T
A
A
G
C
C
A
G
G
C
A
T
T
C
T
T
C
A
C
A
T
T
C
G
C
T
C
T
T
A
T
T
C
C
T
C
A
A
C
A
G
C
C
C
45200
T
A
T
G
A
C
A
G
A
C
T
A
C
T
T
C
A
A
T
T
A
T
G
C
C
C
A
T
T
T
T
A
C
A
G
A
G
G
A
T
G
A
A
A
T
T
G
T
C
T
45250
G
C
T
A
C
A
G
C
T
T
T
C
A
T
G
A
T
T
G
T
A
G
C
A
G
C
T
T
T
A
A
T
G
A
T
G
G
T
A
G
C
A
C
T
G
T
G
G
T
A
45300
A
G
T
A
G
C
T
G
A
G
A
T
G
A
C
T
G
G
A
A
T
T
G
G
G
A
C
C
C
A
G
G
C
A
G
T
C
T
G
A
C
C
C
T
A
G
A
A
C
C
45350 |
var(45306):[T:0.01]
|
var(45322):[C:0.01]
C
A
C
A
C
T
T
C
T
G
A
T
C
T
C
T
GCAG CAGACTGCCT TCTGCA
T
A
T
C
C
T
C
C
T
C
A
T
T
G
45400 |
REPEAT
|
var(45394):[T:0.06]
T
G
T
A
A
C
T
A
A
G
A
A
G
T
G
C
A
G
G
C
A
C
A
G
A
G
A
G
G
C
T
T
A
G
T
A
G
A
T
T
T
T
C
C
A
G
A
G
T
C
45450
A
C
A
G
A
G
C
A
A
G
T
CACATTGAT TAGAAGTATA TGTTGTATGC TCCCCAGTTA
45500
AGGGCCTGTC CAATCAGCTT AAGTGACAGT CTCAGCAAAC TTATTTCTAT
45550
TCAGCTTTGA GCTTTTTTTT AACCTTTACA AGCACATGCT TTCTTTGAGC
45600
ACATAACACA ATAGAGCAAC TA
T
TTCAGAT AATGAAATCT TTATATGGAG
45650 |
var(45623):[:0.29]
GTCAGACATC ACTGGCCACT CACTCATATG GTGCCTGAGG TTTTGAGCTT
45700
CCTTAAGGTT ACTTGGCCCC TTCAAGACTG TTCTGAACTC CCTCAACTCT
45750
CTCTGCAG
G
G
C
A
T
G
G
A
G
A
T
T
G
T
A
C
A
G
A
C
C
A
T
G
A
A
C
A
G
T
G
A
T
C
C
T
G
G
C
C
T
G
45800 | Exon 18
G M E I V Q T M N S D P G L 769
G
C
A
G
T
G
G
GTA TGTCCAGGGC CTCAGTTGCC ACTCACATAG AATTCTTCCA
45850
A V 771
GCTACTAGTG TGGTTTGTCT ATTGTTCTAA TCTTATCTGG TCCCTACAG
G
45900 | Exon 19
G 772
G
T
A
C
A
C
A
G
C
T
T
T
T
A
A
T
G
G
A
G
T
T
G
A
C
T
T
C
G
A
A
G
G
G
A
C
C
T
T
C
C
A
T
G
T
G
A
A
T
A
45950
Y T A F N G V D F E G T F H V N 788
C
C
C
A
G
A
C
A
G
A
T
G
A
T
G
A
C
T
A
T
G
C
A
G
G
C
T
T
T
A
T
C
T
T
T
G
G
C
T
A
C
C
A
A
G
A
T
A
G
C
46000
T Q T D D D Y A G F I F G Y Q D S 805
T
C
C
A
G
C
T
T
C
T
A
C
G
T
G
G
T
C
A
T
G
T
G
G
A
A
G
C
A
G
A
C
G
G
A
G
C
A
G
A
C
A
T
A
T
T
G
G
C
A
46050
S S F Y V V M W K Q T E Q T Y W Q 822
A
G
C
C
A
C
C
C
C
A
T
T
C
C
G
A
G
C
A
G
T
T
G
C
A
G
A
A
C
C
T
G
G
C
A
T
T
C
A
G
C
T
C
A
A
G
GTAT
46100
A T P F R A V A E P G I Q L K 837
TGGTGGTTTG AAGTCATTCA TCTCCCTTTC TTCTGGACCT CTCATCTTTT
46150
TTCAGATATT GTGTTTTCCC ATGTGGTACT TAGTTAATCT AAAAAAAATT
46200
GATGCATTTA TGCTAACGTT AGAGTCAGGG AAGACTACAG TTGACCCTTG
46250
CCTTCATTCC TGTGTGCCAG CTACATTCTA ACCTCTCATG GTGGGAATCC
46300
CAGCCTACAT GAGGTCAGAG AGAGGGAAGG TTTAGAGTGC ATCTTCAGGC
46350
ACACTGTGTT GGAAACTGGC TAATAAATTT CATCGATAGG TCCAACTTTG
46400
TACAGGAGGG CTGATGGGCT ACTTCTGTCA CTCCTGCTAG GACACAAGGC
46450
TGACTTAAGT AGCCAGACGT TTGATAGGAG CCCTCATTGG GCAAATGTAG
46500
GGAGCAATGG ATGTGCAGCA GGAACAAACA TGGAATGTGT AATGGAATAC
46550
TGGGCAAGGC TTAGTAGTAA AAGGTTGGGG TCACCTCCA
T
AGAAATGACA
46600 |
var(46590):[C:0.16]
TTTAAGTGTT TATGCTTTGT TCTGAATCCA AGGCAGCCGG ATTATAACCA
46650
TGACTATAAC CTGGATCATC ACTTCAGATC CAGGAAGCAG GAAGGGTGGT
46700
GCCTGTGTCC TGTCCTAAAA CCTTGCTTGT GTCATCAT
G
C AG
G
C
T
G
T
G
A
A
46750 |
var(46739):[C:0.30]
| Exon 20
A V K 840
G
T
C
T
A
A
G
A
C
A
G
G
T
C
C
A
G
G
G
G
A
G
C
A
T
C
T
C
C
G
G
A
A
C
T
C
C
C
T
G
T
G
G
C
A
C
A
C
G
G
46800
S K T G P G E H L R N S L W H T 856
G
G
G
A
C
A
C
C
A
G
T
G
A
C
C
A
G
G
T
C
A
G
G
C
T
G
C
T
G
T
G
G
A
A
G
G
A
C
T
C
C
A
G
G
A
A
T
G
T
G
46850
G D T S D Q V R L L W K D S R N V 873
G
G
C
T
G
G
A
A
G
G
A
C
A
A
G
G
T
G
T
C
C
T
A
C
C
G
C
T
G
G
T
T
C
C
T
A
C
A
G
C
A
C
A
G
G
C
C
C
C
A
46900
G W K D K V S Y R W F L Q H R P Q 890
G
G
T
G
G
G
C
T
A
C
A
T
C
A
G
GTAGG TAGAGGCCCC ATCTCCTTAC CTTGCTCTAG
46950
V G Y I R 895
AAGCAAAGCA TTCTCCGTTC TGCATCCCAG AGCCTTCATT TCCCTGAGCA
47000
ATTCTGACCT AGGATAGTCC CCAAGGACAT GCCAGGACTT TTGTGACCGC
47050
AGGATGGGGA ACCTAGAAAA GAGGTGGGAG AGAAGATATT CAGGGTCAGA
47100
CCACCCGGAC AGGACAGTAG GACCAAGATG GGGATAGAAG GAGCAGAGCT
47150
GAGGGGACGA CCCAGCGTTG TGGGGTTGGT GCATTTGGAT GGCTGTGCCC
47200
TTCTGCCATG CTCTGCAGAG AAGCCTGAGG GTGGACATGC CAAT
C
G
GTAT
47250 |
var(47245):[T:0.01]
|
var(47246):[A:0.15]
GAGGTAAGAG GTGTGGCAGG GTCTCTTCTC CACACCCTCC CCTGTGGCAC
47300
CTCTGGGCCC TGTGTAATCA CTTACTAGTG CACATTTCAC CCTGACTGCA
47350
G
C
A
CTATGTC CCTTACA
G
T
C
T
G
T
C
T
T
C
C
C
T
G
C
T
G
G
A
T
C
A
C
A
A
A
C
T
G
C
A
T
G
47400 |
var(47351):[:0.62]
|
REPEAT
A
G
G
G
C
A
G
C
G
C
T
T
G
T
A
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
G
A
G
A
C
G
G
47450 |
REPEAT
A
A
T
C
C
C
A
C
T
C
T
G
T
T
G
C
C
A
G
G
C
A
G
G
A
G
T
A
C
T
G
T
G
G
C
G
T
G
A
T
C
T
C
A
G
C
T
C
A
C
47500
T
G
C
A
A
C
C
T
C
C
G
C
C
T
T
C
C
T
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
47550 |
var(47529):[T:0.19]
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
G
C
G
C
C
A
T
C
A
C
G
C
C
A
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
47600 |
var(47574):[A:0.04]
|
var(47582):[A:0.04]
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
C
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
T
C
T
C
47650
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
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
A
C
A
G
47700
G
C
A
T
G
G
G
C
C
A
C
T
G
T
G
C
C
T
A
G
C
C
A
T
A
G
C
T
T
A
T
T
A
T
T
T
T
A
T
C
T
T
G
A
T
C
T
C
C
C
47750 |
REPEAT
C
A
G
T
G
C
C
T
A
G
C
A
C
A
A
A
G
C
C
T
G
A
C
A
T
C
T
A
CT ACACGTGGCA TGAACTGATC
47800
ATCATGTAGG CCAAAGTAGT CTGACTTCTT TCTTTATAGG ACTTTTTTGT
47850
TGTTGTTTTT TAAGTATTCT CGGGAGTTAG GAGGCTTAGG GCTGTGTCTT
47900
TGAAATGTAG ATAGTGTTCT TCTTCATTTG AACTTGCAGA TCAACACCCA
47950
TCCTAGCCTA TGTAGGATAT TTAGGAAGGA GTACTGAGTG CATTCTCCTC
48000
ATCAGGGCAG GAAAGCAGCC TTGTGGAAAA AAGAAAATCA TGAGGGCAAA
48050
TTCATGTTTT GTTTCTCTTT GTGACATTAT GTCAAATGTA CTCTTTTTGT
48100
CTCACAGTGA GATGATCAT
G
T
T
C
T
C
A
G
C
C
C
T
A
T
T
A
A
G
C
C
C
A
A
T
G
C
C
C
C
T
T
48150 |
REPEAT
T
T
T
T
A
T
T
A
T
A
A
A
T
A
T
T
T
T
G
A
A
A
T
G
C
C
C
C
C
T
T
T
T
C
C
G
T
C
C
C
A
A
A
A
T
G
G
A
A
T
48200
C
A
T
A
G
A
A
A
T
T
A
C
A
A
C
C
T
A
C
C
T
A
C
A
C
G
T
A
T
A
A
T
C
T
A
G
A
A
A
A
T
C
A
A
T
G
T
G
A
G
48250
C
C
C
T
A
A
C
A
A
T
A
T
C
A
T
A
G
A
G
A
A
A
T
A
A
G
A
A
T
A
A
T
T
T
A
T
A
A
C
A
A
A
A
T
A
A
T
T
T
A
48300 |
var(48264):[G:0.05]
A
A
T
A
T
T
T
G
A
G
C
A
C
A
G
C
C
A
C
A
C
C
A
G
A
A
G
A
C
A
A
A
A
T
G
A
A
A
C
A
G
A
C
A
C
T
T
G
C
A
48350
C
C
C
A
T
G
C
C
T
A
G
A
A
T
C
A
C
T
A
C
G
A
A
G
G
T
G
A
C
A
T
T
C
T
A
A
C
A
G
A
C
T
G
TTGTGTC
48400
AGTGACTTAA ATGTTTGTTA CACTGGTTGA TGACAGCAAT GTAAATTTCT
48450
CAAATGGTAC ACATTTTAGA ATGTTAATTT TCAAACAAAT TTTCTCAATT
48500
TAC
C
C
T
G
G
A
A
A
A
T
A
T
A
G
T
T
T
A
T
A
T
T
A
A
A
A
T
T
T
G
T
G
C
A
A
A
A
T
A
T
A
C
T
T
G
C
T
48550 |
REPEAT
G
T
T
T
A
C
A
A
G
T
G
A
A
A
G
T
G
A
G
T
C
A
G
G
T
T
C
T
A
G
G
C
C
C
T
G
A
T
A
G
T
T
G
C
T
C
T
T
T
A
48600
C
C
T
A
C
C
C
T
G
G
T
G
T
C
T
G
A
G
G
A
A
C
A
C
T
C
C
A
G
A
A
G
T
G
T
A
T
G
G
A
A
T
G
C
A
G
G
A
C
A
48650
G
G
T
T
T
T
G
A
T
T
G
T
T
C
T
C
G
C
C
A
G
G
G
C
A
T
T
G
C
T
C
G
C
C
A
T
C
C
A
G
C
A
T
C
C
C
T
G
G
C
48700
T
G
C
C
A
T
C
A
C
T
C
A
G
T
G
C
C
A
C
T
G
T
G
A
C
A
A
C
C
C
A
A
A
G
T
G
T
C
C
C
C
A
C
A
G
A
T
T
C
C
48750
T
C
C
A
A
C
T
C
T
A
C
T
T
A
G
G
G
A
G
T
G
C
T
G
T
C
T
C
C
T
G
T
G
G
A
G
A
A
T
C
A
T
T
G
CTCTGA
48800
GATTCCACCA AAAGATATAA ATCAGACCAA AGGAAAAGCC AAAGTTTTTA
48850
AGCATGGTAT CTAGACAAGG CAACTCACAT GACAATAAGA CACAAAACTT
48900
TCTCACTCAA GATAGCAGGT TTGGTTTGGT TTGATTTTTA ACTCAAGTTT
48950
GATAGTGTGA CCAACATCAT GTTAGGCCTT GTGAGAGACA GAAGTTGGGA
49000
AGAAACACCC CCCACCCCCC TCCACACACA CACG
G
A
C
A
C
A
C
A
C
G
G
T
C
C
C
T
49050 |
REPEAT
G
C
C
C
T
C
A
A
G
G
A
C
T
T
C
C
A
G
T
C
T
A
G
T
A
A
G
T
A
A
G
T
G
G
G
A
A
C
A
G
C
T
A
C
A
G
T
A
C
A
49100 |
var(49085):[C:0.42]
A
T
C
C
A
G
G
T
C
A
G
C
G
A
A
A
A
A
T
G
G
A
G
C
C
T
A
A
A
A
C
A
G
A
G
C
A
AAG AAAGACGCAG
49150
GTACGTATAA GAAGTGGGGC CCCTGGGCCT CACAGTGGGC ACTTTACCCC
49200
GGGTTGGATT TCATGGAGGC CCCTCCGGCC GTGTTGTCCG CAG
G
G
T
A
C
G
A
49250 | Exon 21
V R 897
T
T
T
T
A
T
G
A
A
G
G
C
T
C
T
G
A
G
T
T
G
G
T
G
G
C
T
G
A
C
T
C
T
G
G
C
G
T
C
A
C
C
A
T
A
G
A
C
A
C
49300
F Y E G S E L V A D S G V T I D T 914
C
A
C
A
A
T
G
C
G
T
G
G
A
G
G
C
C
G
A
C
T
T
G
G
C
G
T
T
T
T
C
T
G
C
T
T
C
T
C
T
C
A
A
G
A
A
A
A
C
A
49350
T M R G G R L G V F C F S Q E N 930
T
C
A
T
C
T
G
G
T
C
C
A
A
C
C
T
C
A
A
G
T
A
T
C
G
C
T
G
C
A
A
T
G
GTAATGT GCATTCTCGT
49400
I I W S N L K Y R C N 941
TACTGTTCAA CATTGTTACT AGAATTAGTC AAACACTGCC ACCTTATTTT
49450
TATACCGCAC TTCCCCCCCA AAAGCCCAAC GCTCATACCA CATAGTCATT
49500
AAAACCTGAT AGTCCCTGTG TACCAGAAGT AAAAAGCAGA TCGCATTTAT
49550
CCTATTTTAT CCATGTGGAA ATTAAGACCC ATAGAATTTA ACTGCATGGT
49600
TTAGGGTTTG GGGTTCAGTG AGAAATCCAG TCAGATTTAA TTTACAGGAA
49650
GCCTTTATTT TCATGTGGTT AAAACATAAT CACAGATGCA AAATCCATTC
49700
TGCCTGCTGA TTTTCTGCAC GGCCGGGAAG GAGCACTCCT GGGCTTTAAG
49750
CCAACGGTTT GCAAAGCAGC CTGCAGGAGA AAATGGCGGC GAGGGCCTGC
49800
GGG
G
C
G
T
C
C
T
G
G
G
C
G
G
G
CTA ACAGCGCCCC CTACAGGACG CCTGAGCCGC
49850 |
var(49804):[:0.18]
GGGCGGGGGT CCGGGGTCCG GGGTGGAAGG AGCCTCGCTA ACCTCCCTGT
49900
GCCCATTCCT ATTGCAG
A
C
A
C
C
A
T
C
C
C
T
G
A
G
G
A
C
T
T
C
C
A
A
G
A
G
T
T
T
C
A
A
A
49950 | Exon 22
D T I P E D F Q E F Q 952
C
C
C
A
G
A
A
T
T
T
C
G
A
C
C
G
C
T
T
C
G
A
T
A
A
T
T
A
A
A
C
C
A
A
G
G
A
A
G
C
A
A
T
C
T
G
T
A
A
C
50000 |
UTR
T Q N F D R F D N 961
T
G
C
T
T
T
T
C
G
G
A
A
C
A
C
T
A
A
A
A
C
C
A
T
A
T
A
T
A
T
T
T
T
A
A
C
T
T
C
A
A
T
T
T
T
C
T
T
T
A
50050
G
C
T
T
T
T
A
C
C
A
A
C
C
C
A
A
A
T
A
T
A
T
C
A
A
A
A
C
G
T
T
T
T
A
T
G
T
G
A
A
T
G
T
G
G
C
A
A
T
A
50100
A
A
G
G
A
G
A
A
G
A
G
A
T
C
A
T
T
T
T
T
A
A
A
A
A
C
C
G
T
G
T
T
G
C
T
CAGAC ATTGCTCTCA
50150
CGTGGCTCAG GCTTTGAGGT GCCCGTTCTC GGAGGGATCC CTGTTAACTT
50200
GCAGGGTGGT AGTTTCTTCT CAGACCCGGT GGCCGATAAG ATGAGCCTAT
50250
GCGTGAATCA CAAGGCCCAG GCCAGAGGTC TCAGCTGGGG TCCCCCCAGT
50300
TTGCTCCATA CAAAACGCCT AACCGTTCCA TGCTCACCTT GGCAGCCTCC
50350
TTATTTCGGG TAAGGGGTCT CAGAAACACG TGTTTGGGGT GGCACCTTCC
50400
CTAGGGAGGC
G
TTTTTCTGA CCTAGTCCTG GGACAGATTT GCCCAATTCT
50450 |
var(50411):[A:0.02]
TTCTGATGCT GTCATCCCAT CCCACACCTT CCACAGAC
T
T
C
T
A
T
T
C
T
G
G
C
50500 |
REPEAT
C
C
C
T
T
C
A
A
C
G
T
A
A
T
T
C
T
T
A
A
G
C
T
T
A
T
T
T
A
T
A
T
A
T
T
T
G
G
C
T
C
C
C
C
C
T
A
G
T
G
50550 |
var(50526):[G:0.04]
G
A
C
T
G
T
A
A
G
C
A
T
A
T
T
G
A
C
A
A
T
A
A
A
G
G
A
T
C
A
T
G
T
C
A
T
T
A
C
A
A
T
C
A
A
T
A
T
C
C
50600 |
var(50553):[A:0.21]
C
C
A
C
A
G
T
A
C
C
T
G
G
A
A
T
G
T
A
G
T
A
A
A
T
A
G
C
C
A
G
T
A
A
A
T
G
T
T
T
ACTGAATTAA
50650
TAAACGAAGA AT
G
A
A
T
GAAT GAATGCCTCT TAAAGGACAG TAGAGTGTAC
50700 |
var(50663):[:0.03]
ATGATCATAA AAGTCCTCCT CAACTCAAAA AGTCACAACA TATCCTCTAT
50750
TTGTGGTACC AGTAGCTGGA TGTACAGCAC AGAAACTTGC CTAATTTGTA
50800
CACTAGCCTT TCTTGTATTT CAATTGTAAA TCAAGATCCA AGCAAATTTT
50850
TATAAATTCT CTAGAAATTT TGTTTCAAAG AATATTGCTG TGCGGTTATA
50900
TATTTTCTTA TTCCAGAATT CCTAGAGATA TATTAAATCA TGTATGAAGA
50950
AAAAAACACC ACAGTTTTAT CATGACTTTA ACAGTGAGAA AATACAATGG
51000
TGCATGCATG AGATCTGGAG GATTTCTGGA CATCCTCCTC TCATGTACAG
51050
CCTGGAGATG TGTGT
G
GCCT TGTAATCCAG GACATCTGAT CTCCTACATC
51100 |
var(51066):[T:0.39]
AAAAACTCCA ATGG
G
G
C
C
A
G
G
T
G
T
G
G
T
G
G
C
A
C
T
T
G
C
C
T
G
T
G
G
T
C
C
C
A
A
G
C
51150 |
REPEAT
|
var(51132):[A:0.01]
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
G
G
C
A
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
51200
C
A
G
C
C
T
G
G
C
C
A
A
C
G
T
G
G
C
G
A
A
A
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
51250
G
C
C
A
G
G
T
G
T
G
G
T
G
C
C
A
C
T
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
T
T
T
G
G
G
A
G
G
T
T
G
A
G
51300 |
var(51274):[A:0.36]
|
var(51300):[A:0.37]
G
T
G
G
G
A
G
A
A
T
C
A
C
T
T
G
A
G
C
T
G
G
G
G
A
G
G
C
A
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
A
G
A
G
A
T
51350 |
var(51323):[C:0.02]
T
G
C
A
C
C
A
C
T
G
T
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
T
G
A
G
A
G
T
G
A
G
G
C
T
GGTGAAAGG
A
51400 |
var(51359):[C:0.02]
|
var(51374):[A:0.01]
|
var(51400):[:0.21]
G
G
CAGCAACC CACACCATGC CCACCCCTGG GGCAGCCTCC CTG
T
TGTCGG
51450 |
var(51444):[C:0.27]
CTGTGCAAGC CCAAGAACGC AGTATG