IL17RB 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
GAACAACACC AAGCTCACAG CAGGGCCTGC CCTGGCACAC AACTGAAAAG
50
CCAGCACAGC CCAGAGCCTG GCCCACAGCA CAGAATCAGA TACTCACGGA
100
ATGAACGCAT GTTAGTGAAT GGCTGCCTGC TCGCTCGTCT CAGAGGGACT
150
AGCCCTCTAT TTTGCCCTGC AGAGCCAACC AGGTGGCCTT TCTAAAACCA
200
AAAATGGATG ACCATTTAAG CCTGTACCAT TGTTCCTCAG CACCATGGGA
250
CAAAGTTCAC AATCTTGAGC TTGCAGACGA GGCTGTTTTC ATCTGGGCTT
300
CCGCAGCAAG GCGGGTACTT GTGTCCTTGA AAATAATTCT CACTGCACTC
350
ATCCTCACTC CAGGAGTACC CATCAGCCAG CACCCATGTG TG
G
TTCACCT
400 |
var(393):[T:0.01]
TTGCACCCAG CAGGTATTTG CTGAACAGGA AGATGACTAT TAGAGCTGAA
450
AATGTTCTCA AGGGCCACAG GGCCCAAAGC AACTCAGAGA GGTGGAATGA
500
GGGGCTCA
G
G GTGGCCCAGT CCCAGGCAGG GGTGCGGCCA CAA
C
CTCA
A
C
550 |
var(509):[A:0.01]
|
var(544):[T:0.24]
|
var(549):[G:0.24]
TGAGTTCCTT GGTCAGGAAA CAGAG
C
AATT CTCTGAAAAT GCTACCTGCA
600 |
var(576):[G:0.01]
ACTCCACACG TATGCATGCC AGAGCCCAAA CCCCTGGCTG ATCCCCAGTC
650
CATGCAAGCC TT
A
ATCAAGC TGGCAGGTGG GCCAGGCCTG GCACACAAGT
700 |
var(663):[C:0.01]
AGGGCCTCAG CTAAAACAGC TGCTTGACT
T
AGTACAGCCT CTCACCAGCT
750 |
var(730):[C:0.29]
GACAACACAC CCCT
A
A
G
T
T
C
C
A
T
A
C
C
C
C
T
C
T
C
T
A
G
G
C
C
T
C
C
G
T
C
T
T
C
T
C
A
800 |
REPEAT
T
C
T
G
T
A
G
A
A
T
G
G
A
G
C
T
A
A
T
T CTGCCTACAA GTTTAAATGG CCCTGAGTTG
850
GTCACCACAA CCCTGTCGTT TGCA
A
A
C
C
G
A
G
G
G
G
G
C
T
G
A
A
G
C
A
G
C
A
G
T
T
C
900 |
NOT SCANNED
C
A
G
C
C
T
C
T
G
T
G
A
C
T
C
C
A
C
T
G
T
T
A
G
C
C
C
A
G
C
T
G
A
T
T
T
T
T
G
T
G
A
A
C
T
T
T
C
C
C
950
C
C
A
A
A
C
C
C
A
C
T
G
T
G
T
C
T
C
A
A
A
G
G
A
T
G
G
T
C
C
C
T
G
G
G
C
C
A
C
C
C
A
C
C
C
A
C
G
A
A
1000 |
REPEAT
T
T
A
C
G
G
G
G
G
C
G
T
G
G
G
T
G
G
A
G
G
C
T
C
G
T
T
A
A
A
T
G
C
A
G
A
T
C
C
C
G
G
G
C
C
T
G
A
C
C
1050
C
G
G
A
C
C
T
G
C
C
G
T
C
T
G
G
A
T
C
T
C
A
T
T
T
T
A
G
G
C
G
G
C
G
C
T
A
G
A
G
A
T
C
C
C
G
G
G
C
C
1100
A
G
G
G
A
A
A
C
T
T
G
A
G
A
A
C
C
G
C
A
G
C
T
C
C
A
A
A
T
C
G
C
C
A
G
T
G
C
T
G
A
C
G
G
C
T
T
C
C
G
1150
C
T
T
T
G
G
G
A
G
C
C
C
C
A
G
G
T
G
T
T
G
C
T
G
T
C
C
G
A
A
C
T
C
A
C
T
T
G
G
T
G
G
A
A
A
C
A
G
A
C
1200
A
T
T
T
A
C
C
A
G
A
A
A
G
C
C
T
G
G
G
G
T
C
G
G
G
C
A
G
C
G
G
G
C
A
C
T
C
C
T
A
C
C
G
C
T
C
T
A
A
C
1250
C
C
C
G
C
G
T
A
G
C
T
G
A
A
A
G
A
A
T
T
C
G
C
T
C
C
C
T
C
A
A
A
G
G
A
G
T
C
A
G
T
G
A
G
C
T
T
C
G
G
1300
C
A
G
T
C
T
G
C
G
T
T
C
C
A
C
C
C
G
T
T
T
C
G
C
T
T
C
G
C
G
C
G
G
C
G
G
G
G
C
G
A
T
T
G
T
G
T
A
A
A
1350
G
C
G
G
G
C
C
C
G
G
G
T
C
T
C
G
G
C
G
T
C
C
A
G
C
C
C
G
G
C
C
C
C
A
A
A
C
C
T
C
C
G
G
C
C
C
C
C
A
G
1400
G
C
C
T
C
T
C
C
G
G
G
C
T
A
G
C
G
G
C
C
G
G
G
C
G
G
C
G
C
T
G
C
T
G
C
G
G
G
G
T
G
G
T
C
G
G
G
G
C
G
1450
C
C
T
C
C
G
C
G
G
C
T
A
C
T
C
A
C
C
C
G
G
G
G
C
G
A
C
T
C
G
G
C
C
G
A
G
A
G
C
C
C
G
A
C
A
G
T
C
G
G
1500
G
A
C
C
G
G
A
G
C
G
G
G
A
G
G
A
G
C
G
G
G
T
G
G
C
C
G
C
G
G
C
C
C
G
G
C
C
C
C
T
G
C
C
C
C
G
C
G
G
C
1550
A
C
T
T
T
A
A
C
C
G
G
C
G
G
C
G
C
C
G
G
C
G
C
C
C
C
G
C
G
C
G
C
T
C
T
C
T
G
C
G
T
C
C
G
G
A
A
T
G
G
1600
G
G
A
C
G
C
A
G
C
A
G
T
T
C
C
G
A
C
C
C
G
G
T
C
G
G
C
C
C
C
G
G
A
G
C
C
G
C
G
A
G
G
C
T
A
G
C
T
G
G
1650
G
C
T
C
C
A
G
C
G
G
A
G
G
C
G
C
G
C
G
A
A
G
C
C
C
G
A
G
G
G
C
G
G
G
T
G
C
A
G
C
T
G
A
T
G
C
A
C
C
T
1700
G
G
C
T
C
A
C
T
G
C
A
T
G
C
A
C
G
T
G
T
G
C
G
C
G
G
G
G
G
T
A
G
G
C
G
C
G
C
G
C
C
G
C
G
G
C
G
G
C
C
1750
C
G
T
G
C
T
C
C
G
C
C
A
G
C
G
C
T
C
G
G
A
C
A
C
G
G
C
C
C
A TCCCTCCGAG CCCCAGCAGG
1800
CGAGGGCGCT GCGACCTGCC CCAGCCTGGG AGGGGGCCAG CGGGCCCGCC
1850
CTCTGTTCGG GTGGCGGGAA TGGGTCGGCG CTGCGAGAGG CGGAGCCGAG
1900
AAGGGGCGGC CCGGCGGCGC C
G
GGATAAA
A
G
C
G
C
A
G
C
G
T
G
C
G
G
G
T
G
G
C
C
T
1950 |
var(1922):[A:0.01]
| Exon 1 |
UTR
G
G
A
T
C
C
C
G
C
G
C
A
G
T
G
G
C
C
C
G
G
C
G
A
T
G
T
C
G
C
T
C
G
T
G
C
T
G
C
T
A
A
G
C
C
T
G
G
C
C
2000
M S L V L L S L A 9
G
C
G
C
T
G
T
G
C
A
G
G
A
G
C
G
C
C
G
T
A
C
C
C
C
G
A
G
A
G
C
C
G
GTAAGCC CCCGCCAGCA
2050
A L C R S A V P R E P 20
CCTCTTCCCT CATCTCCCGG CCCTCGAGCC CAGATCCTGA CGTCGTCTGA
2100
TCCGCCAGTC CAGGCTGCCC CGAAGGCGTG CGCGGACTGC C
G
GCTC
G
AGG
2150 |
var(2142):[A:0.01]
|
var(2147):[A:0.02]
GGCATGCCTG CACCCTCAGG GCAGCCCCGG ACATCGGCGT CAGGTTGCTT
2200
GAGTCAGGGG CGTGGGAATC AGAC
A
G
A
C
C
C
G
G
T
C
T
C
A
G
A
T
G
C
C
A
C
C
C
T
G
T
2250 |
NOT SCANNED
A
C
T
G
T
T
G
G
T
T
C
T
G
T
C
A
T
T
T
A
T
G
C
T
C
A
C
C
A
A
G
T
T
C
C
A
A
G
T
C
C
C
G
A
A
C
G
G
T
A
2300
A
A
A
C
G
A
A
G
G
G
C
A
G
T
A
C
C
G
A
A
C
C
C
A
C
C
A
G
G
G
T
C
T
C
T
T
A
A
G
G
T
A
T
A
A
C
G
A
C
A
2350
T
G
G
C
C
T
G
C
A
A
T
T
A
G
C
G
G
C
G
A
A
G
G
G
C
C
T
G
G
C
A
C
G
T
A
G
T
T
A
T
T
G
T
T
A
C
T
T
G
G
2400
G
G
T
C
T
G
C
T
C
A
C
C
T
G
T
T
G
G
G
G
C
A
C
A
A
G
A
A
C
T
G
T
T
T
C
T
C
C
A
T
T
A
G
T
A
C
C
C
C
C
2450
T
C
C
C
T
T
T
T
T
G
G
C
C
A
T
A
T
T
G
A
T
T
G
C
C
A
T
G
T
T
C
A
C
T
C
G
T
G
A
A
G
G
C
A
G
T
T
G
C
C
2500
T
T
T
C
T
T
C
C
C
C
A
G
T
A
C
C
C
T
G
A
A
T
G
A
T
C
G
A
G
G
G
A
A
T
C
T
T
C
T
G
G
G
T
C
A
C
T
G
A
A
2550
G
A
G
A
A
A
A
T
A
G
C
T
CATCCCCC AAATAACCTT TGAAATGATA CCGCTGCCCT
2600
CTTAGAATAG CATATAGCAT CAAGCTCCGT AGTCACCTGC TGGTGGACAA
2650
ACCCCATTCA CTGTTTCCTG ATGTCTTCAG CTCCTATCCT TCCCCTCTGT
2700
GTCAGTTCAG AAGCCCTCTT GGCTCTTTGC ACTAAAGGGA AGAATTCATC
2750
CCTTTTGCTG TAGTTGCTGC AAGGCCAACA ATTTGAGCTT GGTAGCATTT
2800
AGGGTTGTT
G
CTTGGCCTCT CACCGGCC
G
T TTGATAAGAA CTCAGCTCCT
2850 |
var(2810):[:0.97]
|
var(2829):[A:0.36]
GGTATGATGG CTCATTTGTT AAAAAAAAAA AAAAAAAGTC AAGTCT
G
G
C
C
2900 |
REPEAT
G
G
G
C
T
C
G
G
T
G
G
C
T
C
A
C
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
T
G
A
G
G
C
G
2950
G
C
C
G
G
A
T
T
G
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
G
G
A
A
C
A
G
C
C
T
G
G
C
T
A
A
C
A
T
G
G
T
G
3000
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
G
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
G
G
3050
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
C
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
3100
C
C
C
G
G
G
A
G
C
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
T
G
C
G
C
C
A
C
T
G
T
A
C
T
C
C
A
3150
G
C
C
T
G
G
G
T
G
A
C
A
A
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
G
A
A
A
A
A
G
G
A
A
A
A
A
A
A
A
A
TCT
3200
GATGATATCC CTTAGAGTTC ATTTTTTAAA AGACAAATAA ATGATTGACA
3250
ATTTTGCCCA AACTCAAATC ATTCAAACCA TCAAAAGGAG ATCTTAGAAG
3300
GTGTTTGGAA ATGTGGATGC TCAGCAGCAT ATTCCAGAGC TGCTGGA
C
GT
3350 |
var(3348):[T:0.01]
ATCACATTGA GTCTTGTCAT TTGAGCTTGC TGCTGCCTAA AGCCCCAATA
3400
TTTTAGGTTC AGTATTTTAT TCCAGAACCA AAGCACAAAT TATTTTTTCT
3450
TATGAAAAAA CACGAGCAGC TAACTTCAAA CGATTTAGTA CCAGCCTTTC
3500
TTGAACACTA ATAATTGCTT ATGGTTTCGT GAATTGCTCA GTGAGTCCTT
3550
TTGTGTTAGA AGGGGAACAT TTTAAAGAAC CTGAGGAAAG TACCATGGAC
3600
TGCATTCAGA GCTTTCTTTT GTTTATCTCC TTAGCATAGC TACTCCTTAA
3650
CCTGGGGTAG CCCAGTAAAT ACTCTAGGCC GTCCTAA
A
A
A
C
C
T
A
G
A
G
T
T
A
3700 |
REPEAT
A
A
C
A
T
T
A
G
A
G
T
G
T
G
A
A
G
G
G
G
C
C
T
C
A
C
A
T
C
G
G
T
C
C
C
A
A
G
T
C
A
T
C
C
C
C
T
G
C
T
3750
T
G
C
A
G
C
A
G
G
G
A
A
G
G
A
T
G
A
C
A
T
C
C
A
G
A
G
A
C
A
G
A
T
G
G
A
G
A
C
C
C
A
C
C
T
G
T
G
G
T
3800
C
T
T
C
A
A
G
T
G
A
G
G
T
T
A
T
G
C
A
C
T
G
G
C
T
T
G
A
G
G
A
T
C
A
G
G
T
A
T
A
C
T
G
A
T
G
G
C
T
A
3850
A
T
C
C
A
T
G
G
T
C
CGTCATAGCC TACAGTGGGA CAGCTTAGTT CCCCCCTAAG
3900
CTGTGAAGCA GAACCAGTTC ATCTTTTCTT TGAAAGTTTG TCACTTGTAT
3950
ATGCATTTAA GGGGAAAATG GTGTTCTGCC TAATTTGGCA AAGGAAAGCT
4000
TGTGGTTTGC CGGCTTCA
A
C
A
TGACGCTTG GTTTTTTTCT CTCCCACAG
A
4050 |
var(4019):[G:0.27]
|
var(4021):[G:0.26]
| Exon 2
20
C
C
G
T
T
C
A
A
T
G
T
G
G
C
T
C
T
G
A
A
A
C
T
G
GTAGGT GCATTAGAGA ATGGGTATTT
4100
T V Q C G S E T 28
GGGGCTTTAC ATTGAAAGCA CAGTTGGACT TTTAGGAAGC CTAATATAGG
4150
CAA
T
AGGTCA TCGAAGACCA GACACAGGGT GACCCATTGC TTTATTGGCT
4200 |
var(4154):[C:0.01]
GATGCAGATG AAGTCTCTGT CTGCTCGAAG CAGAACTCTG GGGCTCTGTG
4250
GGAATGAGGC C
G
TGTTTCAG ACAGGCTAGC CTCTTGGCCA GTCAAGATGG
4300 |
var(4262):[C:0.34]
GACTTGCCAT ACAAGGTGGA AAGTGATGCC TGCCACTCTG CAGAGGGAGA
4350
TCAAGGCCGT GGAAGGAAGG TCACTTAGAG TTGGGACCGA GAAGCAAATG
4400
TTTCATAGGA GAGCGGGTGT TTGAGATGGT GGCATTTGAA GAATGGGTAG
4450
GCTTCTGCCC AAAAAATGTG GGTAGGAAGA GTGAGCTGGA GGAGAGATGG
4500
CACCAGCAAA GGTTAGGAGG TGGGAAAGTG GGGGCTGT
G
T GGGCCAGCTG
4550 |
var(4539):[A:0.02]
GCTGGAATCC AGGGCC
G
AAG CCTGAGGAAG GCAGGCCTGA CTCTAATAAA
4600 |
var(4567):[A:0.02]
CATGTCAAAT ACACTAAATA TATA
C
ATGTG TACATACACA GGCACCTGGA
4650 |
var(4625):[T:0.01]
GTGGTCCCAC GTGCTCTGTA GGTGAAAGCC AGGAGGTTGA GAGTACTTCT
4700
GTTAGATCAA AATTATCTGG GCTATAAATC AGCCAGCGCT AAGAAACATT
4750
TGGCCTTAGC AGGAAGAACT GAGGAATTG
G
G
T
C
A
G
G
C
G
T
G
G
T
G
G
C
T
T
A
T
A
4800 |
REPEAT
C
C
T
A
T
A
A
T
C
C
A
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
A
T
T
T
G
A
G
G
C
4850 |
var(4803):[C:0.03]
C
A
G
G
A
G
T
T
T
G
A
G
A
T
C
A
T
C
T
T
A
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
C
C
C
A
T
C
T
C
T
A
C
A
A
4900
A
A
A
A
CAATTT TTTTAATTAA AAAAAAAAAG AAGTGAGGAA TTGTGAATGG
4950
GGGAAGGTTT GGTGTGAGTC ACTGAGAGGA GATGGCATGG CATCAGACTG
5000
GGCTG
G
GAAA GACAGTGTCA TGGAAGTCTT GCTTTTTCCC AG
G
G
C
C
A
T
C
T
5050 |
var(5006):[C:0.01]
| Exon 3
G P S 31
C
C
A
G
A
G
T
G
G
A
T
G
C
T
A
C
A
A
C
A
T
G
A
T
C
T
A
A
T
C
C
C
C
G
G
A
G
A
C
T
T
G
A
G
G
G
A
C
C
T
5100 |
var(5083):[G:0.34]
P E W M L Q H D L I P G D L R D L 48
C
C
G
A
G
T
A
G
A
A
C
C
T
G
T
T
A
C
A
A
C
T
A
G
T
G
T
T
G
C
A
A
C
A
G
G
G
G
A
C
T
A
T
T
C
A
A
T
T
T
5150
R V E P V T T S V A T G D Y S I 64
T
G
A
T
G
A
A
T
G
T
A
A
G
C
T
G
G
G
T
A
C
T
C
C
G
G
G
C
A
G
A
T
G
GTAAGTT TGCATCCATC
5200
L M N V S W V L R A D 75
AGAGATAAGG CCCAA
A
G
T
G
T
C
T
A
C
T
A
A
A
T
C
A
G
A
A
A
T
G
T
G
C
A
G
A
C
T
A
T
A
T
G
5250 |
REPEAT
A
A
C
C
A
T
T
A
A
T
T
C
C
C
C
T
T
C
T
A
C
G
C
A
T
A
A
C
C
A
A
C
A
G
A
A
A
T
A
C
A
T
G
C
A
T
A
C
A
C
5300 |
var(5271):[T:0.39]
G
C
A
C
C
A
A
A
A
G
C
C
A
C
A
T
A
C
T
A
G
G
G
T
G
A
T
C
G
C
A
G
T
A
G
C
A
C
T
A
C
T
T
A
C
A
A
C
A
G
5350
G
C
A
A
C
A
T
T
A
G
A
A
A
G
C
A
C
T
C
A
A
A
T
G
C
C
C
A
A
C
A
G
T
A
G
A
A
A
G
G
A
A
T
C
A
C
C
A
G
A
5400
T
A
A
A
T
T
C
C
G
T
C
A
C
A
G
C
A
A
C
A
A
G
A
A
T
G
A
A
T
G
A
T
C
T
G
T
A
A
C
T
A
C
G
T
A
C
A
A
C
A
5450 |
var(5431):[G:0.03]
|
var(5435):[C:0.09]
A
T
A
T
G
G
A
T
G
A
A
T
G
T
C
A
C
A
A
A
C
A
T
A
A
G
G
C
A
G
A
T
T
C
A
A
A
A
G
A
G
T
T
T
G
T
A
C
A
T
5500
T
T
A
T
A
T
C
T
G
T
G
T
G
C
A
T
G
C
C
T
G
C
A
G
G
C
A
T
A
C
A
T
G
C
C
A
T
A
T
G
A
T
C
C
C
A
T
T
T
A
5550
C
A
G
A
A
A
G
T
G
C
C
A
A
G
C
A
A
A
C
A
A
A
A
C
C
A
A
T
C
T
A
G
T
G
T
T
T
A
G
A
A
G
T
C
A
G
G
A
T
A
5600 |
var(5579):[G:0.34]
G
T
A
G
C
C
A
G
G
A
G
C
G
G
T
G
G
C
T
A
A
C
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
5650 |
REPEAT
G
A
G
G
T
G
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
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
5700 |
var(5669):[A:0.14]
|
var(5682):[T:0.12]
A
T
G
G
C
A
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
G
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
A
T
G
T
G
G
T
5750
G
T
T
G
C
A
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
C
G
A
G
A
A
T
C
G
5800 |
var(5777):[T:0.03]
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
C
G
C
A
C
C
A
C
T
G
C
A
5850
C
T
C
C
A
G
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
A
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
5900
A
A
A
G
C
A
A
A
A
G
A
C
C
A
G
G
C
G
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
5950 |
REPEAT
|
var(5926):[G:0.28]
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
T
A
G
A
T
T
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
6000 |
var(5962):[T:0.01]
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
T
C
C
A
T
C
T
C
T
C
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
A
6050 |
var(6020):[T:0.03]
G
G
C
A
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
A
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
6100
G
A
G
A
A
T
A
A
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
T
T
G
A
G
A
C
T
G
T
G
6150
C
C
A
T
T
G
C
A
C
T
C
C
T
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
A
G
A
C
T
G
T
C
T
C
A
A
A
A
T
A
A
A
A
T
A
A
6200
A
A
T
A
A
A
A
T
A
A
A
A
T
A
A
A
A
G
T
C
A
G
G
G
T
A
G
T
G
G
T
T
C
C
T
G
C
T
G
G
G
G
T
A
G
G
A
A
T
A
6250 |
REPEAT
A
C
T
G
T
A
A
G
G
A
A
G
T
A
T
G
A
G
G
A
G
C
A
C
A
C
C
T
G
A
G
G
G
A
G
T
T
T
C
T
T
A
A
C
C
T
G
C
A
T
6300
A
C
T
G
G
T
T
G
C
A
T
G
A
G
T
G
T
C
C
C
G
A
T
G
C
A
T
C
A
A
G
T
G
G
T
A
C
A
C
T
T
A
T
G
T
G
T
G
T
A
6350
C
T
T
T
T
C
T
G
T
G
T
A
T
G
T
A
C
T
T
C
A
TGGAAGAAG ATAAGGTAAG GCGAGAGATG
6400
ATTTTCCCCA CCCCACTTCA GTTTAGGGAA AGCACTGGCT TAGATAGATT
6450
ACTTTTCCAC TTCCCAGATG ACGTCACGAA GCTTTTGGCA TTTCCCCAAG
6500
ATTGTGCTGC AAGGCACCAT ATGAGTTCTT TCA
C
TGAGCT ACTCCTGGGA
6550 |
var(6534):[G:0.42]
TCCTAATGCC CATCCTTTTG GTTTCCATCT GCTAAATTCA GATCGGAAAA
6600
AAGTCTACCT GGTCAAGAAT CCATGAGTGC CAGGCACAGA GAGAGGAGTC
6650
ACCTACAGTC TCCACCCAGG AGGATTCAGA GGGGTAGGGG AGGCAGACAC
6700
AGGCACAATG TCAGGGGAGT CCCAGAAGGG AGCTGTGCTT CATCTGAGTG
6750
GGATAGGGCG AGAGGAGCTG GAAAGGGTCT CTGGTGAGGT TGCTTTAGGT
6800
GAGATGTGGC CATAAGGGTT TGGGCCCTTA CCTGGCACAG AGTGAGCTCT
6850
TTGTCAGCTG TGGTTATGGG CTGTGGTGCA TGAGTGAGTT GGGCTTTAAA
6900
AGAGTGAAAC TTGAAGAGGT AGATAATGGG AGGAAAGGAC CTTCAGGGAG
6950
AAGAATCAGC ATGGATAAAG GTGCAATCGG AACAGGTGTG GTTTGGTGAT
7000
GACAGTCTTG GAGGGTCTTT GTGGGTCTCC CTGAGGCCAG CCTCTTCCTC
7050
TTAAAAGAGA CCCAGAATAG TGCAGAGCTA TAGCCACCTT TGCAGGCATC
7100
CTATGAAATT CAAGCTGACC TATGAGGAGG AGG
G
A
G
C
T
T
G
G
G
C
T
T
T
G
G
A
A
7150 |
REPEAT
T
C
T
G
A
A
T
T
C
G
T
A
T
C
T
G
C
T
A
C
T
T
G
C
T
G
A
T
G
A
G
T
T
T
T
C
T
A
A
G
T
T
T
A
A
G
C
A
G
A
7200
G
C
T
C
C
C
T
G
A
A
A
C
T
T
C
C
T
A
A
G
C
C
T
C
A
C
G
A
A
C
C
C
C
A
T
C
T
G
T
A
A
A
C
T
G
G
A
G
A
C
7250
A
G
T
G
G
T
G
C
C
T
A
C
C
T
T
T
C
A
G
T
A
C
T
A
T
T
G
T
G
A
A
T
A
T
G
A
A
C
C
G
A
G
A
C
A
T
A
A
A
A
7300
T
A
A
A
G
C
A
T
G
C
T
A
G
T
A
A
A
G
C
A
T
C
T
A
G
C
A
T
C
A
A
G
T
C
A
G
C
C
A
C
A
C
A
G
C
A
A
G
T
G
7350
C
T
A
A
A
T
A
A
A
C CAATGTCCTC TTGCCTATCT CGGCAG
C
C
A
G
C
A
T
C
C
G
C
T
T
G
7400 | Exon 4
A S I R L 80
T
T
G
A
A
G
G
C
C
A
C
C
A
A
G
A
T
T
T
G
T
G
T
G
A
C
G
G
G
C
A
A
A
A
G
C
A
A
C
T
T
C
C
A
G
T
C
C
T
A
7450
L K A T K I C V T G K S N F Q S Y 97
C
A
G
C
T
G
T
G
T
G
A
G
G
T
G
C
A
A
T
T
A
C
A
C
A
G
A
G
G
C
C
T
T
C
C
A
G
A
C
T
C
A
G
A
C
C
A
G
A
C
7500
S C V R C N Y T E A F Q T Q T R 113
C
C
T
C
T
G
G
T
G
G
T
A
A
A
GTAAGC AC
T
T
T
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
T
G
A
G
7550 |
REPEAT
|
var(7529):[A:0.04]
P S G G K 118
A
T
A
G
C
A
T
C
T
T
G
T
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
A
T
G
G
7600
C
T
C
A
C
T
G
C
G
A
C
C
T
C
A
A
T
C
T
T
C
T
G
G
G
C
T
C
A
A
G
C
G
A
T
C
G
T
T
C
T
A
C
T
T
C
A
G
C
C
7650 |
var(7637):[A:0.01]
T
C
C
C
A
A
G
C
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
G
A
C
C
T
G
G
C
T
A
A
T
T
T
T
7700
T
G
T
A
G
T
T
T
T
T
G
T
A
G
A
G
G
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
G
C
T
G
G
T
C
T
T
G
A
A
T
T
C
C
A
7750
G
T
G
C
T
C
A
A
G
C
G
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
7800
G
T
A
T
G
A
G
C
C
A
C
T
G
T
A
T
C
C
G
G
GCATAGACAC TTTTATGTAT TTGGCTAA
A
T
7850 |
var(7818):[T:0.01]
|
var(7849):[:0.99]
TGTTGCTGAA AGCTATGCCC TTTGTTTGGG GAGCATGGAT GATGTGCTGC
7900
TCACACGGGC TGGTA
A
A
T
A
G
C
T
A
T
G
A
C
T
C
A
G
A
G
C
T
T
A
G
A
G
C
A
A
G
A
T
C
C
C
T
7950 |
REPEAT
T
G
G
T
T
C
A
A
A
T
C
C
C
A
T
T
T
T
C
G
G
C
T
A
C
T
T
C
T
C
T
G
T
T
T
T
G
T
G
C
C
T
T
T
C
G
T
A
A
G
8000 |
var(7995):[T:0.35]
T
C
A
G
C
A
T
C
T
C
T
G
G
G
C
C
T
C
A
G
T
T
T
T
T
C
C
C
T
A
C
C
A
G
C
C
A
A
T
G
G
A
A
G
A
G
A
A
T
T
8050
G
G
A
C
T
T
A
A
A
T
T
A
T
A
T
C
C
T
G
G
C
T
T
T
A
A
A
A
C
T
T
T
A
T
A
C
T
T
C
T
C
T
G
A
T
T
C
TGT
8100
AAATTGTTTA GTGCCCATTC CCTAAGTAGA CATTGGTTGG AGACCTAAGT
8150
TTTCACAGAG TGAGTAATGA AATACAAACT AAAAGGGCAA CACACTAAGG
8200
TATACTGTTT CTGTACTGCA GTGTTTTGGG AATTGAGAGT TCCTTGCTTT
8250
GCCTTTCAG
T
G
G
A
C
A
T
T
T
T
C
C
T
A
C
A
T
C
G
G
C
T
T
C
C
C
T
G
T
A
G
A
G
C
T
G
A
A
C
A
C
8300 | Exon 5 |
var(8274):[T:0.39]
W T F S Y I G F P V E L N T 132
A
G
T
C
T
A
T
T
T
C
A
T
T
G
G
G
G
C
C
C
A
T
A
A
T
A
T
T
C
C
T
A
A
T
G
C
A
A
A
T
A
T
G
A
A
T
G
A
A
G
8350
V Y F I G A H N I P N A N M N E 148
A
T
G
G
C
C
C
T
T
C
C
A
T
G
T
C
T
G
T
G
A
A
T
T
T
C
A
C
C
T
C
A
C
C
A
G
GTAA ACTTCCTCAT
8400
D G P S M S V N F T S P 160
TTGTTTATTA TTCTTTGTCT TGCTGGGATG CCTGCTTTGC GATATGCACA
8450
GAGAGAGCCC AGGGA
A
C
C
C
T
G
G
A
T
A
A
G
G
C
T
T
T
T
G
G
C
C
T
T
G
C
T
A
A
A
T
C
T
C
A
8500 |
REPEAT
G
T
T
C
C
C
T
T
A
T
C
T
A
A
A
G
C
A
T
G
G
A
C
A
C
A
G
T
A
G
T
A
A
C
C
A
T
A
C
T
T
T
A
C
C
C
A
C
A
G
8550
A
G
C
A
G
A
G
A
G
A
A
T
A
A
A
G
T
C
A
G
G
T
A
A
AATGTA GGAAAAAGTC TG
T
T
C
C
T
G
T
A
8600 |
REPEAT
T
G
C
C
A
G
G
C
A
C
T
G
T
G
C
T
G
A
A
T
A
C
T
T
G
A
T
A
T
G
C
A
T
C
A
T
C
T
C
A
C
T
T
A
A
G
C
A
T
C
8650
T
C
A
G
C
A
A
C
C
C
C
A
A
G
G
T
T
G
G
G
A
T
A
G
C
T
G
C
A
T
T
T
T
A
C
A
G
A
T
G
A
A
G
A
A
A
C
T
G
A
8700
G
A
G
G
T
T
A
A
G
T
C
A
C
T
T
T
C
C
C
T
G
G
G
T
T
A
T
A
C
A
C
A
C
A
T
A
A
A
A
G
T
G
A
A
G
C
T
G
A
C
8750
A
T
T
C
A
C
A
C
T
T
T
G
G
T
C
C
T
T
C
T
A
G
A
G
C
A
A
T
G
C
A
C
C
T
G
A
G
C
C
A
C
T
C
T
T
T
A
T
A
T
8800
CACTGATGCA AAATGTTTGT TCGTTCCTAT CTCAGCTTTC TAGAGTGGGC
8850
TGCATATGGC TGGGCCTCTG AGAATCTACA GACTCCAGTT GGCTTGTCCC
8900
CAAGCTGTCC ATGAGAGGCA GGGTGGTCCT GAGTTGGATG CTGGGCCCTT
8950
GCCCCA
G
CTT TGTGACACAG GACCAGTTCT CTGGTACCAC AGCTGCAATG
9000 |
var(8957):[T:0.19]
TCACACACAG GGCTGTGATG AGGATGAGAC AGGATGGTGT GTGTGAAGGG
9050
TCTATCTGAG CCGAGTCACC CATCCCATAC CACCATCCT
T
GTCATCTGTC
9100 |
var(9090):[:0.93]
ACAGGCAAGG CATCAAAGCC AAACGGTAAT TTCCAATTCA CTGCTGGTCT
9150
TGGAGATTGT GGTCCAGGGT GTTTTTGGTG CTGCACCATT TACTACACGT
9200
GGTTTCCAAC TTTCTTGATG AGAGCAAACC TCATTTTG
T
T
T
T
C
A
A
A
T
A
A
G
9250 |
REPEAT
C
T
T
T
T
T
T
A
T
T
T
T
G
G
A
A
T
T
C
T
T
T
T
A
T
T
T
T
A
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
9300 |
REPEAT
T
T
T
T
A
G
A
C
G
G
G
G
T
T
T
T
G
C
T
C
T
T
G
T
T
G
C
C
C
T
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
C
9350
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
T
T
G
G
A
T
T
T
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
9400
C
T
C
A
G
C
C
T
C
C
C
A
A
G
A
A
G
C
T
A
G
G
A
T
T
A
C
A
G
T
C
A
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
9450 |
var(9447):[T:0.01]
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
G
G
G
G
T
T
T
C
A
C
T
A
T
G
A
T
G
G
C
T
A
G
G
C
T
9500
A
G
T
C
T
C
A
A
A
C
T
C
C
T
A
A
C
C
T
C
G
G
G
T
G
A
T
C
T
G
C
C
T
A
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
9550
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
A
G
T
G
A
G
C
C
A
C
C
G
T
A
C
C
C
A
G
C
C
T
T
A
T
T
T
T
G
G
A
A
T
A
A
9600 |
REPEAT
T
T
T
T
A
G
A
T
T
T
A
C
A
G
A
A
A
A
G
T
T
G
C
A
A
A
G
A
T
A
G
T
A
C
A
G
T
T
T
C
C
A
T
A
T
A
C
C
T
C
9650
T
C
A
C
C
C
A
G
C
T
T
C
T
C
C
T
A
T
T
A
A
C
G
T
C
T
T
G
T
A
T
T
A
C
C
A
T
G
A
T
A
C
A
T
T
T
G
T
C
A
9700
A
A
A
C
T
A
A
G
A
A
A
C
C
A
A
C
A
T
T
A
G
T
A
C
G
T
G
T
C
T
G
T
T
A
A
C
T
A
A
A
C
T
C
C
A
G
A
C
T
T
9750
T
A
T
T
T
G
G
A
C
T
T
C
A
C
C
T
G
C
T
T
T
T
T
C
A
T
G
A
A
T
G
T
C
C
T
C
T
T
T
C
T
G
T
T
C
C
A
G
T
T
9800
G
C
A
T
T
T
A
G
T
C
C
C
T
G
T
G
T
G
T
C
T
C
T
C
C
T
C
T
G
G
T
C
T
G
T
A
A
C
A
G
T
T
T
C
T
T
A
G
T
C
9850
T
T
T
G
T
T
T
T
T
C
A
G
A
A
C
G
T
T
G
A
C
A
G
T
C
T
T
G
A
G
T
T
C
T
G
A
C
C
A
G
G
C
A
T
C
C
T
G
T
A
9900
G
A
A
T
G
T
C
C
C
C
C
A
G
T
G
T
G
G
G
T
T
T
G
T
C
T
G
A
T
G
T
T
T
G
T
C
T
C
A
T
G
A
T
T
A
G
A
C
A
G
9950
G
G
A
A
T
T
C
A
T
A
C
C
A
C
A
G
A
G
G
T
G
C
C
G
G
G
C
C
C
T
T
C
T
T
A
T
C
C
C
A
T
C
A
G
G
G
G
T
C
C
10000 |
var(9971):[A:0.02]
A
T
G
G
C
A
C
C
C
A
C
A
T
G
A
C
A
C
C
A
G
G
C
T
G
G
G
G
G
T
C
A
C
C
A
T
C
A
A
C
A
C
T
A
G
A
T
T
A
A
10050
T
G
T
G
G
G
G
A
C
T
G
C
C
A
G
A
C
T
T
C
T
C
C
A
T
G
T
A
A
A
T
C
T
A
C
T
G
T
T
T
T
T
C
C
C
AACTC
10100
TC
G
TTT
T
T
G
G
A
A
A
C
A
A
G
T
C
A
C
T
A
A
T
T
C
T
A
C
C
C
C
A
C
C
C
T
G
G
G
G
T
G
A
G
G
A
T
A
10150 |
var(10103):[A:0.01]
|
REPEAT
|
var(10148):[G:0.43]
G
G
G
G
A
G
T
G
T
T
A
G
G
C
T
T
C
A
T
G
T
C
C
T
T
G
A
A
G
G
GGCAGCATCT ACAGATATTA
10200
CCAAATGTCC TTTTCAAATG ATGGATGGTT TTCGAGTCCT CTCTTAGGGA
10250
TCAAAGATAC TGTTTTGATA AAGGCTGTAT TTAAATTAGA CTCTGGTTAT
10300
CACGTAATGG GCAGATGTTC TCTGTTTAGC AGTAAAATGT TAGAGCCCC
A
10350 |
REPEAT
T
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
10400 |
var(10351):[C:0.43]
|
var(10363):[A:0.01]
G
G
A
G
C
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
T
G
G
G
T
G
G
C
A
G
A
G
C
T
A
G
C
A
G
T
10450
G
A
G
C
T
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
A
G
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
10500
C
G
G
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
TTA
G
AGCCC CATTTGAATT
10550 |
var(10535):[C:0.01]
TGCCATCTTA CATCTGGAAT GTTTTGGCAA TTTGTTACAG GTGTGGTATG
10600
CGTATGTGTG TGTGCACTTG GCAAAGGGGG TGGGGCAGAG ATACCTTTTT
10650
CTAAAATGTA AAAACTTTCA TTCAAATTTC CAG
G
C
T
G
C
C
T
A
G
A
C
C
A
C
A
T
A
10700 | Exon 6
G C L D H I 166
A
T
G
A
A
A
T
A
T
A
A
A
A
A
A
A
A
G
T
G
T
G
T
C
A
A
G
G
C
C
G
GTAAGTAAA TACGGCATTT
10750
M K Y K K K C V K A 176
GCTTTTATTA TTTGAAGAAA CTTGTAACTT GAGGCAGCAT AGCT
C
T
C
T
T
C
10800 |
REPEAT
A
T
C
T
T
T
G
C
A
C
A
G
A
A
G
A
A
C
T
G
A
G
C
C
C
T
A
G
G
G
G
A
G
A
G
T
T
G
A
A
T
A
T
C
C
A
A
G
C
A
10850 |
var(10802):[C:0.02]
C
C
C
C
C
G
A
T
G
G
T
G
G
T
G
G
C
A
G
A
A
G
C
A
C
C
T
A
T
G
G
C
T
C
C
T
G
A
T
C
T
C
C
A
G
C
C
A
G
T
10900
A
C
T
T
T
G
C
C
C
A
C
T
G
A
G
TGCAG CAGCCTGTCC AGAAAGGGGT AGACCCTCAG
10950
TACATTTATA TAGTGGAGCA ACAGTCACAA AGAACCACCC CCATCCACTT
11000
GGTTAACAAC ATTTTAGCCC AAATGGCTCA GCAGTGCCAA TCAAAGGCTC
11050
TTCCTGATTG ATGGGAGTCC TACGAGCCCT TCCACCTGCT CAGATGCTAG
11100
CACCACCCAC CTGTGGCCAT GGGGATCCTA AGAACCTTCT GTTTGGATTA
11150
GCAAACATTC GAGGTGGGAG TGTGAGTTCG CTAAAGGACT GGCCCACAAT
11200
TACGCTCTCA A
T
TTGTGTCC TCAAAGAGGA TCACTTTTCA CAGGCTAGTG
11250 |
var(11212):[C:0.48]
AATTTTACCC CTTGAATTTT GTAGTAATCC CCTTTAGGAT TATTAGTCCC
11300
TAGTGCCCAG TTTCCAAGGG TTTGTGTAAA TTTCTGAGTA ATA
T
AGTGTT
11350 |
var(11344):[C:0.32]
GGAATGCTAA TGAGGCTAGT GGTATTTGGA TCAGCCCAGA ACT
C
TTAGGC
11400 |
var(11394):[T:0.02]
ACCCTTCACT GCACAAGGCA TCCCTGGTAC CCTTTCAGAC AGCCGTCCAT
11450
GCTGTCCTTG CTAGAAGGCA GATTTGGACG CTGAGCTTCC CACCAAGGGT
11500
ACAGAGAACA CTGCAGGTGT GAGGAGGTCA GAGGGCCTTG AAGTCAGTCC
11550
TGAACCTGAA CTCCTAAAGA CAGTTCTGAG CCAGGGCCTC AAATGGTCTC
11600
CTCGGTGGAG AAGATAATTT CTGCTGTTAT ACATTGTTGT TCCTGGAAAT
11650
CAGTCCAGTC CTTATTTGCA AGTCACATGA ATGAAACGAC TGACTTTTTC
11700
TGCCAGAGCA GACCTATCAG GGTATATCCT CTAAGCTACG AGCCATTTCC
11750
TTCTTTCTTT GCATCTAGTG AAGCTGGCAG AATGGTCTGA TGGATGAAGC
11800
TCCTGGAACA CAAAATATTC TAGTGGTTGT AGTCCTGATT GTGAGTTCAC
11850
TTGCTCTATA ATCTTAGACA TGTTTTCCAA CCTGTAGCTC TT
T
CTCCCCA
11900 |
var(11893):[C:0.07]
TCCTGGGAAG TAGAAAATAC TGACCCTATC CCTTAACTCA AAAGAGAGGT
11950
TGAAAACAGC AGTGAGTAGC AGAACCAATC CGTGCCTCCC ACCATACTCA
12000
GCCCAGGGAA GCTGTTTTTA GCAAAGCAGC GATGTACGGA TCCCCAAACT
12050
GTCTTGGGCA GCAAGTACTT TGAGACTTTG GAAACAATGA TAAAAAGTTC
12100
ACTATGTAGC AG
C
G
TCCCTA TCTCTTGGAC ATTGTTCCTG AGAACTTGG
G
12150 |
var(12113):[T:0.02]
|
var(12114):[A:0.01]
|
var(12150):[A:0.48]
TTTGTTTCCA TAAAGCCCTG TGGGGAACTT AAATGAGGGA AGAGTTAGCA
12200
AGTTCATCTA CATGGTTCTC TCTCAACTCA CAG
G
A
A
G
C
C
T
G
T
G
G
G
A
T
C
C
G
12250 | Exon 7
G S L W D P 182
A
A
C
A
T
C
A
C
T
G
C
T
T
G
T
A
A
G
A
A
G
A
A
T
G
A
G
G
A
G
A
C
A
G
T
A
G
A
A
G
T
G
A
A
C
T
T
C
A
C
12300
N I T A C K K N E E T V E V N F T 199
A
A
C
C
A
C
T
C
C
C
C
T
G
G
G
A
A
A
C
A
G
A
T
A
C
A
T
G
G
C
T
C
T
T
A
T
C
C
A
A
C
A
C
A
G
C
A
C
T
A
12350
T T P L G N R Y M A L I Q H S T 215
T
C
A
T
C
G
G
G
T
T
T
T
C
T
C
A
G
G
T
G
T
T
T
G
A
G
GTAC TTTTTCTCTT CGTCCCCTTC
12400
I I G F S Q V F E 224
ACCTCGTCCT CCAGCTTTCC TTAGTGTGTT GAAGGAAAAT GGGGACAGTG
12450
TTGTCCAAAC GTGCTGGGCT ACTTTGATGA ATTCAACAGA TAAAAACAAG
12500
TCCCTGTGGG CATCCTGAGA GGTGTCACTG TGAACCTCAA ACCATAGAAA
12550
GAAGGAAGTC TCCGAAGCAG GAAATGAGCC CTTCTTTACA CATGGTCTAG
12600
TGAAAGGAGT CCTTTTGGGA AGCAAAGCTG CTTTGCTGGA AGCCTCGAAA
12650
TCTGCTCACT CCTGTGCCTC ATAATTTTTG GGGGG
C
GGAG G
T
T
G
A
C
A
C
A
G
12700 |
var(12686):[T:0.36]
|
REPEAT
G
G
T
C
T
C
A
C
T
C
T
G
T
C
A
T
C
C
A
G
G
C
T
G
G
A
A
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
A
C
A
G
C
T
T
A
12750
G
T
G
C
A
G
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
12800
C
A
G
A
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
T
G
C
C
G
A
G
C
T
A
A
T
T
T
T
T
T
C
12850
A
T
C
T
T
T
A
G
T
A
G
A
G
A
C
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
A
T
A
12900
C
T
G
G
G
C
T
C
A
A
G
C
C
A
T
C
T
G
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
12950
A
G
G
G
G
T
G
A
G
C
C
A
G
T
G
C
A
C
C
T
G
G
C
ACCTCAT AATTCTTGAC TCTCTCTCTC
13000 |
var(12957):[T:0.03]
|
var(12971):[C:0.04]
TTAAG
C
C
A
C
A
C
C
A
G
A
A
G
A
A
A
C
A
A
A
C
G
C
G
A
G
C
T
T
C
A
G
T
G
G
T
G
A
T
T
C
C
A
G
T
G
13050 | Exon 8 |
var(13050):[A:0.01]
P H Q K K Q T R A S V V I P V 239
A
C
T
G
G
G
G
A
T
A
G
T
G
A
A
G
G
T
G
C
T
A
C
G
G
T
G
C
A
G
GTAAAGTTCA GTGAGCTGCT
13100
T G D S E G A T V Q 249
CTGGGGAGGG AAGGGACATA GAAGACTGTT CCATCATTCA TTGCTTTTAA
13150
GGATGAGTTC TCTCTTGTCA AATGCACTTC TGCCAGCAGA CACCAGTTAA
13200
GTGGCGTTCA TGGGGGCTCT TTCGCTGCAG CCTCCACCGT GCTGAGGTCA
13250
GGAGGCCGAC GTGGCAGTTG TGGTCCCTTT TGCTTGTATT AATGGCTGCT
13300
GACCTTCCAA AGCACTTTTT ATTTTCATTT TCTGTCACAG ACACTCAGGG
13350
ATAGCAGTAC CATTTTACTT CCGCAAGCCT TTAACTGCAA GATGAAGCTG
13400
CAAAGGGTTT GAAATGGGAA GGTTTGAGTT CCAGGCAG
C
G TATGAACTCT
13450 |
var(13439):[T:0.02]
GGAGAGGGGC TGCCAGTCCT CTCTGGGC
C
G CAGCGGACCC AGCTGGAACA
13500 |
var(13479):[T:0.10]
CAGGAAGTTG GAGCAGTAGG TGCTCCTTCA CCTCTCAGTA TGTCTCTTTC
13550
AACTCTAGTT TTTGAGGTGG GGACACAGGA GGTCCAGTGG GACACAGCCA
13600
CTCCCCAAAG AGTAAGGAGC TTCCATGCTT CATTCCCTGG CATAAAAAGT
13650
GCTCAAACAC ACCAGAGGG
G
GCAGGCACCA GCCAGGGTAT GATGGCTACT
13700 |
var(13670):[:0.12]
ACCCTTTTCT GGAGAACCAT AGACTTCCCT TACTACAGGG ACTTGCATGT
13750
CCTAAAGCAC TGGCTGAAGG AAGCCAAGAG GATCACTGCT GCTCCTTTTT
13800
TCTAGAGGAA ATGTTTGTCT ACGTGGTAAG ATATGACCTA GCCCTTTTAG
13850
GTAAGCGAAC TGGTATGTTA GTAACGTGTA CAAAGTTTAG GTTCAGACCC
13900
CGGGAGTCTT GGGCA
T
GTGG GTCTCGGGTC ACTGGTTTTG ACTTTAGGGC
13950 |
var(13916):[C:0.48]
TTTGTTACAG ATGTGTGACC AAGGGGAAAA TGTGCATGAC AACACTAGAG
14000
GTA
T
GGGCGA AGCCAGAAAG AAGGGAAGTT TTGGCTGAAG TAGGAGTCTT
14050 |
var(14004):[G:0.49]
GGTGAGATTT TGCTCTGATG CATGGTGTGA AC
T
TTCTGAG CCTCTTGTTT
14100 |
var(14083):[A:0.04]
TTCCTCAG
C
T
G
A
C
T
C
C
A
T
A
T
T
T
T
C
C
T
A
C
T
T
G
T
G
G
C
A
G
C
G
A
C
T
G
C
A
T
C
C
G
A
14150 | Exon 9
L T P Y F P T C G S D C I R 263
C
A
T
A
A
A
G
G
A
A
C
A
G
T
T
G
T
G
C
T
C
T
G
C
C
C
A
C
A
A
A
C
A
G
G
C
G
T
C
C
C
T
T
T
C
C
C
T
C
T
14200 |
var(14193):[C:0.01]
H K G T V V L C P Q T G V P F P L 280
G
G
A
T
A
A
C
A
GT AAGTGCCCAG TAACTTCAAC CAGATGATCA AAGTGGCTCA
14250
D N 282
CACACAGTCA CTGCC
C
CCCA CTCAGTATGT GGAAGGGTTG TGTGTATGTG
14300 |
var(14266):[T:0.01]
GGCAGTGCAA GGGGTCGCTG CCTGTGTACA CTGAACTGGG GTGCAGAGAA
14350
AGCCAACAGT GCTGTCCCAG AGAACCTAGA ATCTGAGTAA GAACAGGCTT
14400
TATTTGTAAA ACCACTCGTG ACTCTTTACA AAGCAGGATA CACAGAAGGG
14450
AAAAAAATAC ACAGTGCAAA ATGGATGTTC TGAGTGCCAC AAGGATCTGC
14500
TGAAAAAAGC CAAAGATGTA AGATGGCTGG GTATATATGA GAATGAATAT
14550
TTCACTATAT TCTGATTCAA TTACCAGTCT CAGTGGCCCA GGATGAGCTT
14600
TTGGTGTGGT CACATGGCCA ACATTTGGAT AACAAATGAG GAATAATGGT
14650
ACCGCCTCAC TAGTGCCTGA GAACAGCATG TTCTGGAAAA TGTCTCTGGA
14700
GTTAGAGATG TGTTAGCTTT TTCATTACAG ATGGAGAAAT ACAATGTTTA
14750
CACAACAGTC CAGGGGTGGG GTCAAAAGTT GGAAGGTGTC ATTAGACGCA
14800
GCCAAATAAA GTGAAGACAA CCCAGGTGAC TGGCAGCCCT GACTTGTGCG
14850
TGGGCGAAGC CTTACAGATT CCTGGGCACT CTGTGCCTGA GCTTACCTGA
14900
TGTTCTTGTG AGGCGGGTGG CACTATCCTC CATGTATGTC AGTCTAACAA
14950
GACGGCCTGT AAAAATGTCA TCTATATGTG CTATGTATGT AAGCAGTTGT
15000
ACCCAGAATA ACATTAATTC CTTAAAGAAC CAAAAAAACT GGACAGAAAC
15050
CCTAGTTCCT ACTGTGAAAA TGCCGGTGCA TATCAGGACA AAGAAGCCAA
15100
AGAGATTTTA GGACTGTTCT TAACTTCCTG GGTCCCATAT CCCTTTTGAG
15150
AATCTAATGC AAGACCTGCA CACTCTAGGG AAAAAGATAT GATTGGCAGA
15200
CT
C
TCTAAAG AGCTTCTGAC TGATGGTTTT AAAGGGATCT AAATCTCTAC
15250 |
var(15203):[A:0.33]
A
A
A
G
T
G
G
C
T
G
G
G
C
G
C
G
G
T
G
A
C
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
15300 |
REPEAT
G
C
T
G
A
G
G
C
A
G
C
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
A
C
G
G
A
G
G
C
T
G
C
A
G
T
G
A
A
C
C
G
A
15350
G
A
T
T
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
A
A
G
C
G
A
G
A
C
T
C
T
G
T
C
T
C
A
15400 |
var(15357):[A:0.01]
A
A
A
C
T
A
A
A
A
A
A
T
A
A
T
A
A
A
A
A
A
T
A
A
A
T
A
A
A
C CTCTATAAAG TATACCAAGT
15450
CTTAGTTTTT AAATTAAGAG ATAAGTGTGG ATTTGTTTTC CAAAGGTGAA
15500
TAAGCTTTGT TTTTTCCAG
A
C
A
A
A
A
G
C
A
A
G
C
C
G
G
G
A
G
G
C
T
G
G
C
T
G
C
C
T
C
T
15550 | Exon 10
N K S K P G G W L P L 293
C
C
T
C
C
T
G
C
T
G
T
C
T
C
T
G
C
T
G
G
T
G
G
C
C
A
C
A
T
G
G
G
T
G
C
T
G
G
T
G
G
C
A
G
G
G
A
T
C
T
15600
L L L S L L V A T W V L V A G I 309
A
T
C
T
A
A
T
G
T
G
G
A
G
G
C
A
C
G
GT AAGGGTTATA ATTCTTTAAA GACATCCTAG
15650
Y L M W R H 315
TAAGGAAATA ACATTTTGAA TTTTTTTTTA AAGAAGATTC CTCTGGAGGC
15700
AATCACATGT TGGCGTTTCC CAGAGTTAGA TAGCATTTAT GTAATACCTT
15750
CAAGTGCTCC TACAGAGACT GATA
C
GAGCA TGACTG
G
A
T
T
A
C
A
C
A
T
G
C
C
A
15800 |
var(15775):[T:0.13]
|
REPEAT
G
G
T
G
A
A
A
G
C
A
G
G
G
T
C
A
G
G
A
C
T
T
C
C
A
G
A
T
C
T
T
C
T
G
A
C
T
G
T
C
C
C
G
T
T
T
T
T
A
T
15850
T
T
T
T
A
C
C
A
T
T
G
A
G
C
C
T
T
C
T
A
C
C
A
G
TACTGA AATGGGCAAA AGATGGCTGA
15900
TAACAAATTA CACTTTACCT GTGATGGTTA CTCTATGCTA GTTCCTGTTT
15950
TTTAAAAAAT AGTTCTTATG AGGTGTTAAG AAAAGCTTTC GCTTGGATTC
16000
ATACA
C
A
G
T
T
G
A
C
C
C
T
T
G
A
A
C
A
A
C
A
C
A
G
G
T
T
T
G
G
A
C
T
G
C
G
C
A
G
A
G
C
C
A
C
T
16050 |
REPEAT
T
A
C
A
C
C
T
G
G
A
T
T
T
T
T
T
C
A
A
T
A
C
A
T
A
T
A
T
T
G
G
A
A
A
A
T
T
T
T
T
T
G
G
A
G
A
T
T
T
G
16100
T
A
T
C
A
C
T
T
T
G
A
A
A
A
A
A
C
T
T
A
G
A
T
G
A
A
A
C
T
C
G
G
A
T
G
A
A
C
T
T
T
T
C
A
A
T
T
A
A
A
16150
A
T
A
T
T
G
A
A
A
A
A
A
A
T
G
A
A
G
A
A
A
A
A
G
G
T
A
T
G
T
C
A
T
A
A
A
T
G
C
A
G
A
A
A
A
T
G
T
A
T
16200 |
var(16167):[C:0.01]
A
C
A
G
A
T
A
C
T
A
G
T
C
T
A
C
T
T
T
A
T
C
A
T
T
T
C
C
T
A
C
C
A
T
A
C
C
A
A
T
A
G
T
T
A
A
C
T
A
T
16250 |
var(16220):[G:0.01]
T
T
T
A
A
C
T
A
T
T
A
A
A
A
G
T
T
A
A
A
A
A
T
T
T
A
T
C
A
A
A
A
C
T
T
A
A
A
C
A
C
A
C
A
C
A
T
A
C
C
16300
A
A
C
T
G
T
A
C
A
T
G
G
C
A
C
C
A
T
T
C
A
C
A
G
T
T
G
A
G
A
G
A
A
A
C
G
T
G
A
G
C
A
T
A
A
A
G
A
T
G
16350 |
var(16331):[C:0.01]
T
G
G
T
A
T
T
A
A
A
T
C
A
T
A
A
C
T
G
C
A
T
A
C
A
A
T
T
A
A
T
T
G
C
A
G
T
G
C
G
T
A
C
T
G
T
C
C
T
G
16400 |
var(16389):[T:0.01]
|
var(16393):[T:0.01]
C
T
G
T
G
A
A
T
A
A
T
T
T
C
C
T
A
G
C
C
A
C
C
T
C
C
T
G
T
T
G
C
T
A
C
T
G
T
G
G
T
G
A
G
C
T
C
A
A
G
16450
G
G
T
T
G
C
A
A
G
T
A
T
C
G
A
C
T
T
A
A
A
A
C
A
C
C
C
T
G
T
G
A
T
G
C
T
A
A
C
C
A
T
C
T
C
C
A
A
A
C
16500
G
A
G
C
A
G
T
T
C
C
T
G
T
C
T
C
C
A
G
T
A
A
A
T
T
A
C
A
T
A
T
C
A
C
A
G
T
A
A
A
A
A
G
T
A
T
C
T
C
C
16550
A
G
T
G
G
T
T
C
T
C
T
G
G
T
A
T
T
T
T
T
C
G
T
G
T
T
T
A
G
T
G
C
A
A
T
A
T
C
G
T
A
A
A
C
C
T
T
C
A
A
16600
T
A
A
C
A
C
C
T
T
A
G
G
A
C
C
C
A
T
A
C
G
A
A
G
T
G
C
C
A
C
T
A
G
T
A
A
T
G
C
T
G
G
C
A
G
T
G
C
T
C
16650
C
C
A
A
G
A
A
G
C
A
G
T
G
T
C
A
T
G
A
A
A
A
A
A
A
G
C
A
A
A
A
A
A
A
A
C
T
T
T
T
T
T
T
T
T
T
T
C
A
T
16700 |
var(16697):[:0.92]
T
A
C
A
A
G
A
A
A
A
A
A
A
G
C
C
A
A
A
T
T
G
C
T
T
G
A
T
A
T
G
T
A
C
C
A
T
A
A
A
T
T
G
A
G
G
G
T
C
T
16750 |
var(16736):[G:0.01]
G
C
A
G
C
T
G
T
G
A
T
T
G
T
T
C
A
C
C
A
T
T
T
C
A
A
G
A
T
A
A
A
T
G
A
A
T
C
C
A
G
C
G
T
A
A
G
G
A
C
16800 |
var(16759):[A:0.01]
C
A
T
A
G
T
C
A
A
A
A
A
A
G
A
A
A
A
A
A
A
T
T
C
A
T
G
A
A
G
C
C
A
T
C
A
C
T
A
C
A
G
C
T
A
C
A
C
C
A
16850 |
var(16821):[C:0.06]
|
var(16825):[C:0.38]
G
C
A
G
A
C
A
T
G
A
A
A
A
C
C
T
T
G
C
A
C
A
T
T
T
T
G
C
A
G
A
A
T
A
C
C
T
T
T
T
A
A
T
C
T
T
G
T
A
T
16900
T
G
A
A
A
A
T
G
T
A
G
C
T
T
T
T
A
T
G
T
G
G
G
T
G
C
A
G
G
A
T
T
G
C
T
G
T
A
A
G
A
A
A
G
G
C
A
T
A
T
16950
C
T
G
T
A
G
A
C
T
C
T
A
A
T
A
T
G
A
T
T
T
G
A
G
A
A
A
A
A
G
C
A
A
A
G
T
C
A
T
T
A
T
A
T
G
A
C
A
A
C
17000
T
T
A
A
A
G
C
A
A
A
A
G
G
A
A
G
G
T
G
A
A
G
C
A
T
C
T
A
A
A
G
C
T
G
G
A
G
A
A
T
T
T
A
A
T
G
C
C
A
G
17050
T
A
A
A
G
G
A
T
G
G
T
T
T
G
A
T
A
A
T
T
T
T
T
A
A
A
A
G
T
G
G
T
T
T
G
G
C
T
T
A
A
A
A
A
C
T
G
T
C
A
17100
A
G
A
T
A
A
C
A
G
G
A
G
A
A
G
C
A
G
C
T
T
C
T
G
C
T
G
A
C
C
A
A
G
A
G
G
C
A
G
C
A
G
G
T
G
A
G
T
T
C
17150
C
C
G
G
A
T
G
C
C
A
T
T
A
A
G
A
A
A
A
T
C
A
C
T
G
A
G
G
A
G
A
A
A
G
G
A
T
A
C
C
T
G
C
C
T
G
A
A
C
A
17200
G
G
T
T
T
T
C
A
G
T
G
C
A
G
A
T
G
A
A
A
G
T
G
T
C
C
T
C
T
T
C
T
G
G
G
A
A
A
A
A
A
A
T
G
C
T
A
C
A
A
17250
A
G
G
A
C
A
T
T
G
A
T
T
A
G
T
A
A
G
G
A
A
G
A
G
A
A
G
C
A
T
G
C
A
T
C
A
G
G
A
T
T
T
A
A
G
G
C
A
G
G
17300
A
A
G
G
G
A
C
A
G
G
C
T
A
A
C
T
G
G
A
C
T
G
C
T
T
T
G
T
A
C
A
A
A
T
G
C
A
A
T
T
G
G
G
T
T
T
A
T
G
A
17350 |
var(17325):[A:0.03]
T
C
A
G
G
A
C
T
G
G
C
C
T
T
A
T
C
T
A
T
A
A
A
G
C
T
G
C
T
A
A
C
C
C
C
C
T
G
G
C
C
T
T
G
A
A
G
G
G
A
17400 |
var(17382):[T:0.30]
A
A
A
G
A
T
A
A
A
C
A
C
C
A
G
C
T
G
C
C
A
A
T
C
T
T
T
T
G
G
T
T
G
T
A
C
A
A
T
A
A
G
A
A
G
G
C
C
T
G
17450
G
A
C
A
C
T
G
A
G
A
A
A
A
C
T
T
T
T
C
T
G
G
A
T
T
G
G
T
T
C
C
A
C
T
G
A
T
G
C
T
T
T
G
T
C
C
C
T
G
A
17500
A
G
T
C
A
G
A
A
G
T
A
C
C
T
T
C
C
C
A
G
G
A
A
G
C
G
A
C
T
G
C
C
T
T
T
T
A
A
A
G
T
T
C
T
T
T
T
G
A
T
17550 |
var(17525):[G:0.03]
A
T
T
G
G
A
C
A
A
T
G
C
C
C
C
C
A
G
C
C
A
C
C
C
A
G
A
G
C
C
C
C
A
T
G
A
G
T
T
C
A
A
C
A
C
T
A
A
A
G
17600
T
C
C
T
C
A
G
A
G
T
G
G
T
C
T
C
C
T
T
G
C
C
C
C
C
A
A
A
C
A
C
A
T
C
A
T
A
A
T
T
T
G
G
C
C
T
C
T
A
G
17650
A
T
T
G
G
G
A
G
G
C
C
A
T
A
A
G
G
A
C
C
T
T
C
A
A
G
G
C
T
C
A
T
T
A
C
A
C
A
C
A
G
T
A
C
T
T
T
A
T
G
17700
G
A
A
A
G
G
A
T
T
G
T
C
A
A
C
A
C
T
A
T
G
G
A
C
G
A
G
A
A
C
A
C
C
A
A
C
A
G
A
G
A
G
A
A
C
A
A
C
A
T
17750
G
G
A
A
G
T
C
T
G
G
A
A
G
A
A
T
T
A
C
A
T
C
A
C
T
G
A
A
G
A
T
G
C
C
A
T
C
A
T
T
G
T
G
A
C
A
G
A
G
C
17800
A
A
G
C
C
A
T
G
A
A
A
G
C
C
A
T
C
A
A
G
C
C
T
G
A
A
A
C
A
A
T
A
A
A
T
T
C
C
T
G
C
A
G
G
A
G
A
A
A
A
17850
C
T
G
T
C
C
A
G
A
T
G
A
T
G
T
G
C
A
T
G
A
C
T
T
C
A
C
A
G
G
A
T
T
T
A
C
A
A
C
A
G
A
G
C
C
A
A
T
C
A
17900
A
G
G
A
A
A
G
A
G
A
T
T
G
T
A
G
A
T
G
T
G
G
C
A
A
A
A
A
A
G
G
T
G
G
G
G
G
G
T
G
A
A
G
G
G
T
T
T
C
A
17950
A
G
A
T
A
C
G
G
A
T
C
T
T
G
G
A
G
A
A
A
T
T
C
A
A
G
A
G
C
T
A
A
C
A
G
A
T
A
A
C
C
A
C
A
C
T
A
G
A
G
18000
G
A
A
C
A
A
A
G
A
G
A
A
G
A
C
A
A
C
C
T
G
C
T
G
G
A
G
A
C
G
A
G
T
G
C
T
T
C
C
C
C
A
T
C
A
G
T
G
T
G
18050 |
var(18043):[G:0.06]
A
G
G
T
G
A
T
G
A
T
G
A
A
G
A
C
G
A
C
A
C
A
G
A
A
G
C
A
G
C
A
G
C
A
T
C
A
G
A
A
A
A
C
A
A
A
T
C
G
A
18100
C
A
T
T
A
A
A
C
A
A
T
C
T
G
G
C
A
G
G
T
T
T
C
T
G
A
T
T
A
G
T
C
A
A
G
A
C
T
G
C
T
T
T
T
C
A
C
T
T
C
18150
T
T
T
T
G
T
A
A
C
A
C
A
G
A
C
C
C
T
T
C
T
A
T
G
A
T
A
C
A
A
G
C
A
T
T
A
A
A
C
C
T
A
A
A
G
C
A
A
G
T
18200
G
G
T
G
G
A
G
G
A
A
G
G
A
T
T
G
G
T
A
C
C
A
T
A
T
A
C
A
A
A
T
A
T
T
T
T
T
A
G
A
A
A
A
A
T
G
A
A
A
A
18250
A
G
C
A
A
A
A
A
A
G
C
C
A
G
A
A
A
T
T
A
T
G
A
T
G
T
C
T
T
T
C
T
G
T
A
A
A
G
T
T
A
C
A
C
T
G
A
G
G
C
18300
G
C
C
C
A
C
C
T
C
T
C
C
T
G
C
C
T
C
C
T
C
T
T
C
C
A
C
C
G
C
T
T
C
T
G
C
C
T
C
T
G
C
C
A
C
C
C
C
T
A
18350
A
G
T
C
A
G
C
A
A
G
A
C
T
A
A
C
C
C
C
T
T
C
C
T
C
C
T
C
T
T
C
C
T
C
G
T
C
A
G
C
C
T
A
C
T
C
A
A
C
A
18400
A
G
A
T
G
A
T
G
A
C
A
A
G
A
A
T
A
A
A
G
A
C
C
T
T
T
C
T
G
A
T
G
G
T
C
C
A
C
T
T
C
C
A
T
T
T
A
A
T
G
18450
A
A
T
T
A
G
T
A
A
A
T
A
T
C
T
T
T
T
C
T
C
A
T
G
A
T
T
T
T
A
A
T
T
A
C
A
T
T
T
T
T
T
T
C
T
C
T
A
G
C
18500 |
var(18464):[A:0.48]
T
T
A
C
T
T
T
A
T
T
A
T
A
A
T
A
C
A
G
C
A
C
A
T
A
A
T
A
C
A
C
A
T
A
A
C
A
T
G
C
A
A
A
A
T
A
T
G
T
G
18550 |
var(18532):[C:0.17]
T
T
A
A
T
T
G
G
C
T
G
T
T
T
A
T
G
T
T
A
T
T
G
G
T
A
A
G
A
C
T
T
C
C
A
G
T
C
A
A
C
A
G
T
A
G
G
C
T
A
18600
T
T
A
G
A
A
G
T
T
A
A
G
T
T
G
T
G
G
G
A
A
A
A
T
C
A
A
A
G
G
T
T
A
T
A
G
G
A
G
A
T
T
T
T
C
A
A
C
T
G
18650
C
A
T
G
C
A
G
G
G
C
C
G
G
T
G
C
C
C
C
T
C
C
C
C
A
C
T
G
T
G
T
T
G
T
T
C
A
A
G
G
G
T
C
A
G
C
T
G
TA
18700
CTCTCTAAGG GCTTTGCTAA CTTCAAAACA TGGAGTATTT GAATACAGAA
18750
ACCAGAGCAT TTACATACTC AGCTCAAGGC AGAGCTATTA AAAAAACTCC
18800
TCTTCTCCAT ATGTAGGAAA GGAAATACAA ATGCATCCTT TGAGTCATTT
18850
GTGATGTTGT AAATAAAATG AGATTAACTC CATGTTCTAA GCTAAGAAAG
18900
CCACAGGGGC ACCTGGACCT CAGGAATTCT TACATTTAGG GATGCTGTCT
18950
GACCTGTATT CGTTACAGTA GTTTCAAACA TGGTTTGTTT TACAGCACCG
19000
TATAGGGCAG AATTCCAGGT TAAGTTCCAG GGGCTGAAAA GGGGTGCCAC
19050
TTAACTTTGG GAACTATAAA GAAACTCTAC CACCTGCAGG TAGAAGACAG
19100
TACAAGCAAC TACCTAATTG ACCCGACTCA AAATGTGAAG TGCAGAGGTC
19150
AAGTGTCCCT GTTCATATAC AGCACTAAAA GTACTGAGGT TACAATCACA
19200
CACCTCAAAG TA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
T
C
A
C
T
C
T
G
19250 |
REPEAT
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
G
A
A
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
T
G
19300
C
C
T
C
C
T
G
A
G
C
T
C
A
A
G
T
G
A
A
C
C
T
C
C
C
A
C
C
T
T
A
G
C
C
G
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
19350
C
C
A
C
A
G
A
T
G
C
A
T
G
C
C
A
T
C
A
A
G
C
C
C
A
G
C
T
A
A
T
A
T
T
T
G
T
A
C
T
T
T
T
T
G
T
T
G
A
G
19400 |
var(19361):[G:0.14]
A
T
G
G
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
C
C
C
T
G
G
C
T
G
G
T
C
T
G
G
A
A
C
T
C
C
T
G
G
A
C
T
C
A
A
G
19450
T
G
A
T
C
T
A
C
C
A
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
C
C
T
G
G
T
G
T
A
A
G
C
C
19500
A
C
C
A
C
A
C
C
T
G
G
C
C
AACAAAG TATCTTAAAC CTAAAGTTTC TATGAATTTA
19550
TCTGAAAAGA GAAGGCTTGG TTGAGAGGAT TGTTTTAGTG AGAGGGACTT
19600
AGAAAATACT GCTTTTAAAA TAAGGTTTAA AAAGTTAAGG TTTAA
G
G
C
A
G
19650 |
REPEAT
G
G
T
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
C
T
G
G
G
A
G
G
C
C
C
A
G
G
C
G
G
19700
G
C
G
G
A
A
C
A
C
G
A
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
G
G
G
T
G
A
A
A
19750
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
G
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
G
C
19800 |
var(19754):[T:0.02]
|
var(19755):[A:0.02]
C
T
G
T
A
G
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
T
G
G
C
G
T
G
A
A
C
C
C
19850
A
G
G
A
G
G
C
G
G
A
G
G
T
T
G
T
A
G
T
C
A
G
C
C
G
A
G
G
T
C
A
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
19900
G
G
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
T
A
T
G
T
C
T
C
C
A
A
A
A
A
A
A
A
A
A
A
A
GT TAAGGTTTAA
19950 |
var(19919):[G:0.40]
GCATCAGTGT GTTTCAGGTG ATGTGTTCAA AAGGAACATC AGGATGTTTT
20000
TCCTTGCTGT CACTAACAAG GCCCTTGGTG CTCAGCTGAC ATTCTCTAGC
20050
AAGGGATCAT TTGTCAGGGA TGGTTTACAG AGTGAAAGCC TGCTGTTTGC
20100
TGTTCACAGA TAACAAATGC TTTTCTCCTC TCACAG
A
A
A
G
G
A
T
C
A
A
G
A
A
G
20150 | Exon 11
E R I K K 320
A
C
T
T
C
C
T
T
T
T
C
T
A
C
C
A
C
C
A
C
A
C
T
A
C
T
G
C
C
C
C
C
C
A
T
T
A
A
G
G
T
T
C
T
T
G
T
G
G
T
20200
T S F S T T T L L P P I K V L V V 337
T
T
A
C
C
C
A
T
C
T
G
A
A
A
T
A
T
G
T
T
T
C
C
A
T
C
A
C
A
C
A
A
T
T
T
G
T
T
A
C
T
T
C
A
C
T
G
A
A
T
20250
Y P S E I C F H H T I C Y F T E 353
T
T
C
T
T
C
A
A
A
A
C
C
A
T
T
G
C
A
G
A
A
G
T
G
A
G
G
T
C
A
T
C
C
T
T
G
A
A
A
A
G
T
G
G
C
A
G
A
A
A
20300
F L Q N H C R S E V I L E K W Q K 370
A
A
G
A
A
A
A
T
A
G
C
A
G
A
G
A
T
G
G
G
T
C
C
A
G
T
G
C
A
G
T
G
G
C
T
T
G
C
C
A
C
T
C
A
A
A
A
G
A
A
20350
K K I A E M G P V Q W L A T Q K K 387
G
G
C
A
G
C
A
G
A
C
A
A
A
G
T
C
G
T
C
T
T
C
C
T
T
C
T
T
T
C
C
A
A
T
G
A
C
G
T
C
A
A
C
A
G
T
G
T
G
T
20400
A A D K V V F L L S N D V N S V 403
G
C
G
A
T
G
G
T
A
C
C
T
G
T
G
G
C
A
A
G
A
G
C
G
A
G
G
G
C
A
G
T
C
C
C
A
G
T
G
A
G
A
A
C
T
C
T
C
A
A
20450
C D G T C G K S E G S P S E N S Q 420
G
A
C
C
T
C
T
T
C
C
C
C
C
T
T
G
C
C
T
T
T
A
A
C
C
T
T
T
T
C
T
G
C
A
G
T
G
A
T
C
T
A
A
G
A
A
G
C
C
A
20500
D L F P L A F N L F C S D L R S Q 437
G
A
T
T
C
A
T
C
T
G
C
A
C
A
A
A
T
A
C
G
T
G
G
T
G
G
T
C
T
A
C
T
T
T
A
G
A
G
A
G
A
T
T
G
A
T
A
C
A
A
20550 |
var(20542):[C:0.01]
I H L H K Y V V V Y F R E I D T 453
A
A
G
A
C
G
A
T
T
A
C
A
A
T
G
C
T
C
T
C
A
G
T
G
T
C
T
G
C
C
C
C
A
A
G
T
A
C
C
A
C
C
T
C
A
T
G
A
A
G
20600 |
var(20563):[G:0.02]
K D D Y N A L S V C P K Y H L M K 470
G
A
T
G
C
C
A
C
T
G
C
T
T
T
C
T
G
T
G
C
A
G
A
A
C
T
T
C
T
C
C
A
T
G
T
C
A
A
G
C
A
G
C
A
G
G
T
G
T
C
20650 |
var(20640):[T:0.04]
D A T A F C A E L L H V K Q Q V S 487
A
G
C
A
G
G
A
A
A
A
A
G
A
T
C
A
C
A
A
G
C
C
T
G
C
C
A
C
G
A
T
G
G
C
T
G
C
T
G
C
T
C
C
T
T
G
T
A
G
C
20700 |
var(20685):[C:0.02]
|
UTR
A G K R S Q A C H D G C C S L 502
C
C
A
C
C
C
A
T
G
A
G
A
A
G
C
A
A
G
A
G
A
C
C
T
T
A
A
A
G
G
C
T
T
C
C
T
A
T
C
C
C
A
C
C
A
A
T
T
A
C
20750
A
G
G
G
A
A
A
A
A
A
C
G
T
G
T
G
A
T
G
A
T
C
C
T
G
A
A
G
C
T
T
A
C
T
A
T
G
C
A
G
C
C
T
A
C
A
A
A
C
A
20800
G
C
C
T
T
A
G
T
A
A
T
T
A
A
A
A
C
A
T
T
T
T
A
T
A
C
C
A
A
T
A
A
A
A
T
T
T
T
C
A
A
A
T
A
T
T
G
C
T
A
20850
A
C
T
A
A
T
G
T
A
G
C
A
T
T
A
A
C
T
A
A
C
G
A
T
T
G
G
A
A
A
C
T
A
C
A
T
T
T
A
C
A
A
C
T
T
C
A
A
A
G
20900
C
T
G
T
T
T
T
A
T
A
C
A
T
A
G
A
A
A
T
C
A
A
T
T
A
C
A
G
T
T
T
T
A
A
T
T
G
A
A
A
A
C
T
A
T
A
A
C
C
A
20950 |
var(20929):[C:0.42]
|
var(20944):[G:0.39]
T
T
T
T
G
A
T
A
A
T
G
C
A
A
C
A
A
T
A
A
A
G
C
A
T
C
T
T
C
A
G
C
C
A
A
A
C
A
T
C
T
A
G
T
C
T
T
C
C
A
21000 |
var(20965):[T:0.07]
|
var(20981):[C:0.02]
T
A
G
A
C
C
A
T
G
C
A
T
T
G
C
A
G
T
G
T
A
C
C
C
A
G
A
A
C
T
G
T
T
T
A
G
C
T
A
A
T
A
T
T
C
T
A
T
G
T
21050
T
T
A
A
T
T
A
A
T
G
A
A
T
A
C
T
A
A
C
T
C
T
A
A
G
A
A
C
C
C
C
T
C
A
C
T
G
A
T
T
C
A
C
T
C
A
A
T
A
G
21100
C
A
T
C
T
T
A
A
G
T
G
A
A
A
A
A
C
C
T
T
C
T
A
T
T
A
C
A
T
G
C
A
A
A
A
A
A
T
C
A
T
T
G
T
T
T
T
T
A
A
21150
G
A
T
A
A
C
A
A
A
A
G
T
A
G
G
G
A
A
T
A
A
A
C
A
A
G
C
T
G
A
A
C
C
C
A
C
T
T
T
T
A
CTGGACCAA
21200 |
var(21162):[C:0.13]
ATGATCTATT ATATGTGTAA CCACTTGTAT GATTTGGTAT TTGCATAAGA
21250
CCTTCCCTCT ACAAACTAGA TTCATATCTT GATTCTTGTA CAGGTGCCTT
21300
TTAACATGAA CAACAAAATA CCCACAAACT TGTCTACTTT TGCCTAAAGT
21350
TACCTATTAG AGGTCACTGT CAGAGTTCTC AGTTTCTTAG TTACTATTTA
21400
ACTTTTCATG TTCAAAATGA AAATAATTCT TAAGTTGAAA GCCCTCTTGA
21450
AGTAACCTTT TTATAAATGA GTTATTATAA TGGTTTACTT AAATAAAAAA
21500
CAGGGGT
G
G
G
T
G
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
C
C
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
C
A
A
G
G
21550 |
REPEAT
C
C
A
A
G
G
C
A
A
A
A
G
G
A
T
C
G
C
T
C
A
A
G
A
C
C
A
G
G
C
T
A
C
G
T
C
A
C
A
A
A
G
C
G
A
G
A
C
C
T
21600
C
C
A
T
C
T
C
T
A
C
A
A
A
A
G
A
T
T
T
A
A
A
A
A
A
T
T
A
G
C
T
G
A
G
T
G
T
G
A
T
G
G
T
G
T
A
A
G
C
C
21650
T
G
T
G
G
T
C
C
C
A
G
C
T
A
C
T
A
G
G
G
A
G
G
C
T
G
A
G
A
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
T
21700
G
G
A
G
G
T
C
A
A
G
G
G
T
G
C
A
G
T
A
A
A
C
G
G
T
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
T
C
C
T
G
21750
G
G
T
G
A
G
A
G
C
A
G
A
C
C
C
T
G
T
C
T
A
A
A
A
C
A
A
A
C
A
A
A
C
G
A
A
A
A
A
A
CCCCCACAGA
21800
ATGACAGAAC ATAAAAGATG CACATTTTGT CTTCCAACTT TTTACTCTTC
21850
TAAAAGCATC
T
T
T
T
T
T
A
A
A
T
T
T
T
T
T
A
A
A
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
21900 |
REPEAT
T
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
C
C
T
C
G
G
C
T
C
A
C
T
A
21950
C
A
A
C
C
T
C
T
G
C
C
T
T
C
C
G
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
22000
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
C
C
A
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
C
T
T
T
T
T
A
T
A
T
T
22050
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
C
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
T
G
A
T
C
T
C
C
22100
T
G
A
C
C
T
C
A
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
A
G
C
C
T
C
T
C
A
A
A
G
T
G
C
A
G
G
G
A
T
T
A
C
A
G
G
22150
T
G
T
G
A
G
C
C
A
C
G
G
C
G
C
C
T
G
G
C
C
TAAAAGCAT CTTTTTCTTT AATGCAGAGG
22200
TTATGTTGTA TTATTAGCAT AAATGTTTTT TTTCTGGGAA TGCTTATTTC
22250
ACACAGCACA ATACTGAATC TTCTCTGGAA TGTGGATCGA TTTCAGATGG
22300
ATGACTATTA AAATGTGTAT ATTTGCAGAT TATCCTTAAA GGGCCACCTC
22350
ATGCCTTCTA ATTTATGTCT TACGGATAAA AAATCAAAAT GAAGCATAAA
22400
GTAAAAACTG TGTCCAGCTT TACAAGTGGA CGCTTAGTAA TGGCTGAGGC
22450
AATATGTTTA ATGTAGCAAA TTTTACTTAT TTGTCATGAT CAGTTTTCAC
22500
AGTGCTTGTA AGTGCTGGTA ATAGAAGATG G