IL9R 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
TAGCATATAC AGGCAACAAT CCAAATGTTC ATTGCAGAAA TTATGATTA
T
50 |
REPEAT
T
A
T
T
G
T
T
T
T
T
C
T
T
T
T
A
G
A
G
G
C
A
G
G
G
T
G
T
C
A
C
T
C
T
G
T
T
G
C
C
C
A
G
A
C
T
A
A
T
C
100
T
T
G
A
C
C
T
C
C
T
G
T
G
A
T
C
C
T
C
A
A
G
A
G
A
T
C
C
T
C
C
G
G
T
C
T
C
T
G
C
T
T
C
C
C
A
A
A
G
T
150
T
C
T
T
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
G
C
A
C
T
G
G
G
C
C
T
A
G
ACATTGC AGGGATTATT
200
AAACCATGGT G
C
ATACTACC ATTAAAGGTA TGAGGTAGGT TTTAT
A
TGCT
250 |
var(212):[T:0.15]
|
var(246):[G:0.15]
GACCTAGAAA GATGGTGCAA CACCATAGGG GAACAAGAAG GCTGCAAAGT
300
GGCAGCACAG CAGGAGTCTT TAAGAAATAG GTATTTGTTT CAGCTTAAGA
350
AGTGTCT
G
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
A
G
G
G
400 |
REPEAT
|
var(376):[G:0.43]
A
G
G
C
T
T
A
G
G
T
G
G
G
C
G
G
A
T
C
A
C
T
T
G
A
G
G
T
T
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
C
A
G
450 |
var(404):[T:0.01]
T
C
A
A
C
A
C
G
G
T
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
G
A
A
A
T
T
A
G
C
T
G
G
500 |
var(458):[A:0.15]
G
C
T
T
G
G
T
G
G
C
A
G
G
T
G
G
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
C
T
G
A
G
G
C
A
G
G
A
550
G
A
A
T
C
A
T
C
T
G
A
A
C
C
C
G
G
G
A
G
G
C
C
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
T
A
G
A
T
C
G
C
A
C
C
600
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
T
A
A
G
A
C
T
C
G
G
T
C
A
A
A
A
A
A
A
A
A
A
A
A
650
A
A
A
A
A
A
G
A
C
C
G
G
G
T
G
C
G
A
G
G
T
G
C
T
C
T
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
700 |
REPEAT
A
G
G
C
C
T
A
G
G
C
A
G
G
A
G
G
A
T
C
A
C
A
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
C
750
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
T
G
T
G
800
A
T
G
G
C
A
C
A
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
G
G
A
A
T
850
C
G
C
T
T
G
A
A
A
C
C
A
G
G
A
G
G
T
G
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
C
T
G
900 |
var(851):[T:0.33]
C
A
C
T
C
C
A
G
C
C
T
G
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
G
A
A
A
A
G
A
A
A
950 |
var(914):[T:0.06]
A
C
A
A
A
C
A
A
A
C
A
A
A
CAAAATC CCCAAAAAGC AAAAGTGTCT GCATGGACTT
1000
GTGCCTAACT ACTCACAGTG GCTACTTCTT GGGGGAGGTG AAAGGGGACC
1050
CTGTTAAAGA ATTTTTCTTC TGTATTGTTT TTCTTCAACT GAGTCTGCAT
1100
TAATTTTATA TTTAATACTC TCCCCA
C
CC
C
TGATGCTCAC AGGTTGCTTT
1150 |
var(1127):[T:0.01]
|
var(1130):[T:0.01]
AGCTGGTGGA AGGAGAACCT GCACCTCTGG TTTTGGCAAA GTGTAGAAGG
1200
GGACAAGGGC ACTGCTCTGC ACCTGCACAG GTTCTTGCCT CCTGGGGTCA
1250
GTTTAATGAA TC
T
CAGTGGT GTTTCTTGGG AAGAACACAG TGGACACTCA
1300 |
var(1263):[A:0.03]
CTTGCCAGTC A
G
TAGACAAA TCACTGAAGT CCATGTCTGG CAGTTCTCAA
1350 |
var(1312):[C:0.01]
TGTCATGGGG ACTGTAAGGT TGTCATGTCT CACAGTTCCC TGACTTAGAA
1400
GATTAGTGGT GACAGACACT TCTCAGCTCT GCTCGGGAG
A
G
C
A
G
C
T
C
T
G
T
1450 | Exon 1 |
UTR
A
A
T
G
C
G
C
T
T
G
T
G
G
T
T
T
C
A
G
A
T
G
T
G
G
G
C
G
G
C
C
T
G
T
G
T
G
A
A
C
C
T
G
T
C
G
T
G
C
A
1500
A
A
G
C
T
C
A
C
G
T
C
A
C
C
A
A
C
T
G
C
T
G
C
A
G
T
T
A
T
C
T
C
C
T
G
A
A
T
C
A
G
G
C
T
G
A
G
G
G
T
1550 |
var(1509):[A:0.01]
C
T
T
T
G
C
T
G
T
G
C
A
C
C
C
A
G
A
G
A
T
A
G
T
T
G
G
G
T
G
A
C
A
A
A
T
C
A
C
C
T
C
C
A
G
G
T
T
G
G
1600
G
G
A
T
G
C
C
T
C
A
G
A
C
T
T
G
T
G
A
T
G
G
G
A
C
T
G
G
G
C
A
G
A
T
G
C
A
T
C
T
G
G
G
A
A
G
GTGA
1650
M G L G R C I W E 9
GTCTGTGCTT TGGGCTTCCC AACCTCTCAA GTCAGCATGA AATTCAGAAG
1700
GCAGAGAGGG ACATGTGGCC CTCCAA
C
TCG GGGCCCAGGG AGCCACTGTG
1750 |
var(1727):[T:0.01]
GCATTTGAGA GCGCCACCCT AGCTTTACCT CCTCTGGTGT CCTGGCCTTG
1800
T
GTATCTC
T
T
AGAGATGGCA AAATTTGCAG CCCTGACCTC AAGGATTACA
1850 |
var(1801):[G:0.37]
|
var(1809):[:0.01]
AACTAATTTC CAGTCCTGTA GGGGTCATGG GTTCTGCTGT GGCCAGTGTG
1900
GCACTGAGTT TGTCAGGCAG AATTTCTAAT TATGGAAGGA ACTCTGCTTC
1950
CTCAGTGATT GAACTGACCT TTGTGGGGGT GCCTTTGTGG GGTGAGAATG
2000
GGCATACTTG GGCCTCAGTT GTGATGGCCA TGGGGTGGAG CTGAGGTCTA
2050
GGCCCAGG
G
C TGGGAAAGCT TCTACCAACC CCGAGGCATT TGGGTGTTTT
2100 |
var(2059):[T:0.01]
AGGGCAGAAG AGGAGCCAGG AGGATGGGTA TGCCCCACTG GAGCTGTGTG
2150
TGGGGCAGCA GGTGAGGGTG GGATTCCAGA GGGAGGGTCA ACCCAGCCAA
2200
GCAGAGGAAG GGGAGGAGAG GGTTTGTTTT GGAAAGAACA TCACCCTCTC
2250
AGTTTCCTGG GGTCTGGATA GCCTGTTCTT GTGATGAGCT GGAGGATGTG
2300
GGCCCTGCTT GGATC
C
TCCT CTCCCCTCCC TGCCCCCATT TTCTCTTCCT
2350 |
var(2316):[T:0.01]
GTGATTTATG CTGTTCTGGG CTCACCCTCT TCCCAGAGCT GTCACGCTAC
2400
AGCTGACAGG CAGGGCAGGC GTTTTAATTA TTATTAATTT TTTTTTGAGA
2450
CAGAGTTTGA GACAGTATCA AGAGTGGGTA TCCTCTCAGC GTGTCTTCAA
2500
GTAGCATCCC AGAGCCCCGC TCCTGGGTAC CCACAACATG AACACCGTCC
2550
AGAAGCAAGG GCAGCCTCTG CAGGTGGGGC GGG
G
GTTGGA AAACATTTAT
2600 |
var(2584):[C:0.04]
CAAAC
G
GTTG AGTTGGGTGC AGGGGATGCA ACATGATCAA ACAGGGTCTT
2650 |
var(2606):[A:0.32]
GCCTCCAGGA GCCTCATGTA GGGAC
A
ACGC ACAGTGATGA CCTTCAACTG
2700 |
var(2676):[T:0.10]
CAGTGGGGCA GCAAGGCTGT GGGAGGGGTG TTTTGGGCAG AGCAGGCGAC
2750
GTGGGTACCT CTTCA
C
CAAG ACAGCAGGAA GAGCA
C
GGAC ATCATTTTCC
2800 |
var(2766):[A:0.05]
|
var(2786):[T:0.04]
CGTCTCACCT CCAGACTCCC AGGG
G
ACTGT GCCAATATCC TCACTCCAGC
2850 |
var(2825):[A:0.45]
CCTGGCCCAT GGCCACTGCT CAACCCTTGG GCCCTGTCAG TTCAGGGCTG
2900
TGCAGAAGGA GAGTTGCCTG TGCTCAGGCT CAGG
G
GTTCC GTCCAGCTAA
2950 |
var(2935):[A:0.02]
GGAGGCCTAC TAGGGGACTG GGGAAAGGCC TCATGAAGGA CCAGGCCTGT
3000
GATGGGGAGG GAAGATGGCA GAGGGGACAG TGGGAAGCAG AGCAGCAGGG
3050
GTCTCCTCCA CGCCTCTCTG TACTTCTCCC ACCCACCCTT GCCT
G
CTCCC
3100 |
var(3095):[A:0.01]
CTCTGCCCTG GGTATGTGCC CTTGTCCACC CAACACCTCT GCAGTGC
C
AA
3150 |
var(3148):[G:0.18]
GTCCAGCCCT GACTTCTTCC TGAGCTGTGG CCCAGCGT
T
C CCACAG
G
CAT
3200 |
var(3189):[C:0.02]
|
var(3197):[A:0.44]
TTACCTCACG GATGCAGCAC TGCCCCTCAT CCTCTTCTCT GAAAGTGTGT
3250
GGGAAATGCT TCTTGGTGCC ATCTCTCTCC CACCCTGCCT TCC
C
TGCACC
3300 |
var(3294):[G:0.20]
TTCTCTATGA GGTGTCTGTT GTCTCTGTAC TTGCCTCCAG CTGGCCTTTC
3350
AGACCCCATC CCTCCTGCCT CCTGCCCATC CC
T
ACCCCTG TCAGCACCTT
3400 |
var(3383):[C:0.47]
ACATACTCTG TGCCCAACAG CATTGGGGAT TCCCACTGTG CTGAAGGAAG
3450
TCCTCATGTG GTCCAGAGAG GGAGCT
G
GCC CCTGCTCCCA TTTCCAGCAC
3500 |
var(3477):[A:0.01]
CATTTTCTGG CACAGGCTCC ATGTCCCCAG GCTCCAGCTG CTTCTGGGGT
3550
ACCAAGGTCT GCATTTCTTC CTCTTCCCCC AGCAGACAGA AGACCTTGCT
3600
GGACAGGTGT CCACTTCAAT AGTAACTTC
T
GAGGCTGCCA GCCTCCTGAA
3650 |
var(3630):[C:0.02]
TGGTCCAGAA GAACCAGACC CTTCCC
C
GCC CCCATTAAAA AAGACAAAAT
3700 |
var(3677):[T:0.45]
AT
G
G
C
C
A
G
G
C
A
T
G
T
T
G
G
C
T
C
A
T
G
C
C
T
G
G
C
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
3750 |
REPEAT
|
var(3728):[A:0.18]
|
var(3748):[A:0.01]
A
A
A
G
C
A
G
G
T
G
A
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
G
T
A
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
A
A
A
C
3800
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
G
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
3850 |
var(3816):[C:0.30]
G
A
C
T
C
A
T
G
C
T
T
G
T
A
A
A
T
G
C
T
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
A
G
C
3900
A
G
G
A
G
G
A
T
C
A
C
T
T
G
A
A
C
T
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
3950
C
G
C
C
A
C
T
G
T
G
T
T
C
C
A
G
C
C
T
G
A
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
A
A
A
A
A
A
A
4000 |
var(3990):[A:0.30]
A
A
A
A
A
TATAT ATATATATAC ACACATATAT ATATG
C
ATAA TAGTCTCTGT
4050 |
var(4036):[A:0.03]
GTAACAGTAA GTGGATGCAG TAACTGGTGT GAGGGCAACT TGGAGAGTGT
4100
GCTTGGAGGC ACAGAGATGC TCAGGGCTGC CTGGACTGCC TCCATGATGG
4150
TGGC
C
T
GCTC TGTATTAGGT GAGTGTTCAG GAAAGGTGAG GGCAGGGCAG
4200 |
var(4155):[T:0.01]
|
var(4156):[C:0.01]
CCCACAGCTT CACAGTGGCC CAGGGAAGCA GGGCAGGCAG GCTATGAGGC
4250
CTAGTAGGCA TCTGGGCCAG ACTTTGACAC TGAGGCCATG GAATGGGTGG
4300
GGCTCTGAGA ACAGACCAAA GTGATCATGG GCTGAAGGCT ATGTCCACAG
4350
ATCCAAGGCG GGATA
G
GCTG TGCTGGGCAG TGATGTCAGC CAGGCTCCCC
4400 |
var(4366):[A:0.01]
AGCGGGACTG GGGGTGTCAG GGGCAGCTCT GTCCCAGGTG GCAGACACTG
4450
GTTTCCCCTC CTGCTCTCAC AACCGGCCTG TTACCAGGTG TTGTCTGAGC
4500
TGTGGTGAGG CTTCCCTGGT GACATTCAGG AGCAGGGAGC CTG
C
GAGTAA
4550 |
var(4544):[T:0.13]
GGGTGTAT
G
C ATCTGCCCTG ACTGCCTGGC CCTGTGGTCA AGGATGGGGG
4600 |
var(4559):[A:0.02]
AAGGCAGCTC TGCCTGCAGC TCCACCCCAT TTATAAAGCA CTGTGGTGCC
4650
T
T
CTGCTGGG GCATGTGCTG AGTGGTGCCT CGCAGGCAC
T
GCCCTCGGGA
4700 |
var(4652):[C:0.08]
|
var(4690):[C:0.23]
AGTTCACAGG CTTATGTGGA AGCTGGTGGG AATGGGCCAA GAAGAGAGGT
4750
GTCAGGAGCC AGGTA
T
T
G
G
G
C
A
G
G
T
C
C
C
A
G
G
T
C
T
C
T
G
A
G
C
C
T
C
A
G
T
T
T
C
T
4800 |
REPEAT
T
C
A
T
C
T
G
T
A
G
G
A
G
G
G
T
G
G
T
G
A
CCCTGCCCT GCTCAGCTTA CCAGGTACAG
4850 |
var(4821):[G:0.12]
ATGTAAGTTT TCAGTGCAGA GGAAAAGCAG AGAACTTCCC CTCAGATGGC
4900
CATACCCCCT TGTCGCT
G
TA CCCAACTCTC CGGTCCTACT TTG
T
AGCTCT
4950 |
var(4918):[A:0.03]
|
var(4944):[C:0.12]
CAGGTGTCAC ATGTGGATCC TGCCCTACCA TCCCCCTTCC CTGTCTAGAA
5000
AC
G
AGGCCTG CTGAGCTTGG AGCCATCCCA CTCCCTGCTC TCAAGCC
G
TC
5050 |
var(5003):[C:0.04]
|
var(5048):[A:0.11]
TGCTCCTGGG TTAGCCTGTG GCTGGCCTGG CCTGATTCTA CATAGATGTG
5100
GGTGTTTCTC CACTGCTGGG GCAGC
A
GTTG TCCATTCTGG GGCCTGGGTC
5150 |
var(5126):[G:0.35]
AGCTCTCAGC TGTGGC
C
GTT GTGCCTGTGC TTCCCCAGGT CCTGGTGGTG
5200 |
var(5167):[T:0.23]
ACTCCAACCC TGCCCTCACA TATCCCAAGA GCAGGCTGAC TGCCTTCCCC
5250
ATTCCCACCT TTCCAGTAAC TGCTGCAAGA ACGGACAGAC ACTGCTGCAG
5300
AGAACTTGCC ACGGTGTTTC ATGCTGTGGC TGGTGGT
T
CC AGGCTGCACG
5350 |
var(5338):[:0.11]
CTCCATTCTA GGAAAGGGTG AGGCTTCCTG ATCATCAGTC TTAACAGGGG
5400
ACT
G
TCCTAT GGGTACCTGT ATACGCTGCC GGGAGTGGGG CAGAGTGGGG
5450 |
var(5404):[C:0.02]
TTAGAGTAGT GCCTGCTGCC CATTGGGG
G
T GTGCGGGTTC CTTAAGGGCT
5500 |
var(5479):[T:0.40]
GTAGTCTGTG TGCGTGTCTG GTTTTTTCCT CCTCCTTATC AGTAATCAGT
5550
CTTGTATAAC CAGGCTGGCC CTGCTTCCTG CCTAGGGGCT ATCGGTGTAC
5600
CATCTGGAGT TGCAAATGGG GTGATAGGGC GTCAGCGGCC TTCCCACACC
5650
CAAGCACTTC CTGACACCCA GCCCCTCATC TCTAGCCAAC CTCTGGCTCC
5700
CCTAGGGATC CTGGGGCTCA GGCCTCA
C
GC TCCAGCATC
C
GGGGGCTTTG
5750 |
var(5728):[T:0.01]
|
var(5740):[T:0.01]
CCCTTCTGGT GTTGCTCTTC TTTGCAGGTG CCTTGGAACA GGGGTGCAAC
5800
AGAGTTCAGA AA
G
TGCCATC TGTTGCATGG ATACCCTGCT GCCACCCTCG
5850 |
var(5813):[A:0.10]
TCCACCTTTC TGGGGCAGAA CAGTTGGATG GGTCTTTATT TAAGAGGACA
5900
AAAGGGAGAG AGAATGCATA GA
G
G
C
T
G
G
G
T
C
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
5950 |
REPEAT
T
C
C
C
A
A
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
G
G
T
G
G
A
T
C
C
C
T
T
G
A
G
G
T
C
A
G
G
A
G
G
6000
T
C
A
A
G
A
C
T
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
6050
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
C
G
G
G
A
G
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
6100
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
T
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
6150
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
C
A
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
G
G
6200
A
G
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
TTTGCTTAG AATTTGT
C
T
G
T
G
T
G
A
C
C
C
T
G
6250 |
REPEAT
G
G
C
A
A
G
T
C
A
T
T
T
C
C
C
C
T
C
C
T
T
G
G
G
A
C
T
C
A
G
T
T
C
C
T
T
G
C
C
T
G
T
G
A
A
C
G
G
G
G
6300 |
var(6266):[T:0.01]
A
C
A
G
T
G
C
T
T
C
T
C
C
C
T
T
A
C
A
G
A
G
C
T
G
T
T
G
T
G
A
G
A
A
T
T
A
A
A
G
T
A
G
A
A
A
A
T
G
T
6350 |
var(6301):[G:0.09]
A
C
C
T
A
T
G
G
T
G
G
T
T
GTTGG
T
A GTGACCAGTT CCCCCAACCC TGACTCCCCT
6400 |
var(6369):[C:0.01]
GCAGGATGGG GCCTGGGCCC GGGAATGGGG GATGGGCTGG CAGAGGATGA
6450
CTGTCCCAGA GAGGAGTCTT CTCGGCAGAT GTGGAGACCT AGCT
G
A
G
T
C
A
6500 |
REPEAT
G
A
G
G
C
C
A
G
G
A
T
C
T
A
A
G
T
T
T
G
A
G
G
G
T
G
T
T
C
C
T
T
A
C
A
C
C
C
T
G
C
A
G
C
C
A
T
G
A
G
6550
T
C
T
T
T
G
G
C
T
G
A
G
T
C
A
A
A
T
G
G
C
C
T
T
T
C
T
G
A
G
C
T
C
A
G
T
T
C
C
T
T
A
T
C
A
G
T
A
A
A
6600
G
C
C
T
G
G
A
C
A
G
T
G
G
T
CCAGGA CGCTGGACAC TGTGTGAGTG TTAGGACACA
6650
GGACACTGTG TGAGTGCAGG TGGGGACCCA TGGAGCACTC TGCTGGGGAG
6700
CAATTCATGG GGAGCACCCC TCCAGAGAGG GATGATTTGC ACAGGGCCCT
6750
CAGCCCAGTC CCTTGCAG
G
C
T
G
G
A
C
C
T
T
G
G
A
G
A
G
T
G
A
G
G
C
C
C
T
G
A
G
G
C
G
A
6800 | Exon 2
G W T L E S E A L R R 20
G
A
C
A
T
G
G
G
C
A
C
C
T
G
G
C
T
C
C
T
G
G
C
C
T
G
C
A
T
C
T
G
C
A
T
C
T
G
C
A
C
C
T
G
T
G
T
C
T
G
6850
D M G T W L L A C I C I C T C V C 37
C
T
T
G
G
G
A
G
T
C
T
C
T
G
T
C
A
C
A
G
G
G
G
A
A
G
G
A
C
A
A
G
GTGAGGGC TGGGCACTAA
6900
L G V S V T G E G Q 47
TGTCTGTATG AGGTGGGTGG AGAACTAGGG CATGTTTGGG GGACTGGGTT
6950
GTCCGATGTC AAGCCTCTAG GGAAAGGTTT GGCCCAAACT GTGCTGGGGC
7000
ATGTCCTCTA GGGGTCAGCC TGGACCTCAG TCTCT
A
GTCT CCCTACTTTT
7050 |
var(7036):[C:0.17]
ACCTCCCTAC CTTCATTCCC TGGACCGACT GTAGTCTCCC TTCCTTCACT
7100
CTCTTGACGC CTCTCCAGAT CTGACTTGCC CGTGTACCAC AGGTCAGAGC
7150
CCATCACTTC CCAGGCCTCC CAGTGCTTCC CTGGACAGAT TCTGGGATCA
7200
TTTACTGGTG ACTGCCCTGC TAGGGTGTCA GCTGTCAGAT CCTCCCCAAC
7250
CCCCGAGCTC AGCTCTGGCC TGAAGTACTT ACCGTGGGCT CCTGA
T
GGTC
7300 |
var(7296):[C:0.49]
ACTGTCTCCA G
G
G
C
C
A
A
G
G
T
C
T
A
G
A
A
C
C
T
T
C
A
C
C
T
G
C
C
T
C
A
C
C
A
A
C
A
A
C
A
7350 | Exon 3 |
var(7313):[T:0.10]
G P R S R T F T C L T N N 60
T
T
C
T
C
A
G
G
A
T
C
G
A
T
T
G
C
C
A
C
T
G
G
T
C
T
G
C
C
C
C
A
G
A
G
C
T
G
G
G
A
C
A
G
G
G
C
T
C
C
7400 |
var(7357):[A:0.01]
I L R I D C H W S A P E L G Q G S 77
A
G
C
C
C
C
T
G
G
C
T
C
C
T
C
T
T
C
A
C
C
A
G
GTGAGCA TG
G
AGGGCCA TG
C
CCACCTG
7450 |
var(7433):[A:0.07]
|
var(7443):[A:0.01]
S P W L L F T S 85
GACAGGGATG AGGGTGAGTT CCCCAGGATT GAAGCAGCTA TGCCAGGACA
7500
GTGTAGCAGC CCCGTGGTGC TGACAAATGC CCTTTCCAG
C
A
A
C
C
A
G
G
C
T
C
7550 | Exon 4
N Q A 88
C
T
G
G
C
G
G
C
A
C
A
C
A
T
A
A
G
T
G
C
A
T
C
T
T
G
C
G
G
G
G
C
A
G
T
G
A
G
T
G
C
A
C
C
G
T
C
G
T
G
7600
P G G T H K C I L R G S E C T V V 105
C
T
G
C
C
A
C
C
T
G
A
G
G
C
A
G
T
G
C
T
C
G
T
G
C
C
A
T
C
T
G
A
C
A
A
T
T
T
C
A
C
C
A
T
C
A
C
T
T
T
7650
L P P E A V L V P S D N F T I T F 122
C
C
A
C
C
A
C
T
G
C
A
T
G
T
C
T
G
G
G
A
G
G
G
A
G
C
A
G
G
T
C
A
G
C
C
T
G
G
T
G
G
A
C
C
C
G
G
A
G
T
7700
H H C M S G R E Q V S L V D P E 138
A
C
C
T
G
C
C
C
C
G
G
A
G
A
C
A
C
G
G
T
G
A
G
C
A
G
C
A
G
C
T
A
T
A
G
G
T
C
T
G
G
G
G
C
G
G
G
G
C
C
7750 |
NOT SCANNED
Y L P R R H 144
G
C
T
T
G
G
C
A
A
G
A
A
C
A
T
C
C
T
G
G
C
T
G
C
T
T
G
G
G
G
G
T
T
T
G
G
A
G
C
A
G
G
G
C
C
T
T
G
C
A
7800
G
C
C
T
G
T
G
A
G
T
G
G
C
C
C
A
G
T
G
A
G
T
G
T
T
C
T
C
A
G
T
C
C
C
A
G
C
C
G
A
G
T
G
A
G
A
T
C
C
A
7850
G
G
G
C
T
G
G
G
G
G
C
A
G
G
C
T
T
G
G
C
C
C
T
T
G
G
G
A
G
G
G
G
A
G
G
G
C
C
C
A
T
A
T
G
G
T
T
A
C
T
7900
G
C
A
G
G
G
G
C
A
G
G
G
T
T
T
T
G
G
C
A
GGAAATAAAC ATGCACGGCT GCTAGTTGGG
7950
GCAGGGGCTG GCACTTGAGT CATGTGAAAT GCACTTCAGT CATACCAGGA
8000
AGGACTCCAA TAAGATGCTG GG
A
AAAGCTT CCAGCAGCAG ACT
G
TGAAGG
8050 |
var(8023):[G:0.01]
|
var(8044):[A:0.07]
AAAGGGAAAG CAAGATTTAG AAACCACCTA GTCTAGGTGC AGAGGCCAGA
8100
GGAAGTCATT GCTGTCCTGT CC
C
GCCTGGG GCTTTTGTGG ACCAGTCTCC
8150 |
var(8123):[T:0.02]
CAGTGAGGTG CCTGGTCTGA GAGGGCCTTG ACCATTCCCC TTGGGAGTCT
8200
TTCAGACCCC AGTCTTGTGT GTTCTGACTG ACACACCCAG AC
C
CATGGGG
8250 |
var(8243):[A:0.09]
CTTCAGCCTC ACATGGATTC ACTCTGTTCC AG
T
T
A
A
G
C
T
G
G
A
C
C
C
G
C
C
C
T
8300 | Exon 5
V K L D P P 150
C
T
G
A
C
T
T
G
C
A
G
A
G
C
A
A
C
A
T
C
A
G
T
T
C
T
G
G
C
C
A
C
T
G
C
A
T
C
C
T
G
A
C
C
T
G
G
A
G
C
8350
S D L Q S N I S S G H C I L T W S 167
A
T
C
A
G
T
C
C
T
G
C
C
T
T
G
G
A
G
C
C
A
A
T
G
A
C
C
A
C
A
C
T
T
C
T
C
A
G
C
T
A
T
G
A
G
C
T
G
G
C
8400
I S P A L E P M T T L L S Y E L A 184
C
T
T
C
A
A
G
A
A
G
C
A
G
G
A
A
G
A
G
G
C
C
T
G
G
G
A
G
GT AACACTTTGG CTGGCTTTCC
8450
F K K Q E E A W E 193
CTGGGGGCCT CTCTCCTGGG AACAGCAGTC CAGGGTAGAC TCCCCACTCT
8500
ACATAGGGAG ATGTCAACTT GTAGTGATGA GAAGGGAGGA ACTAGAGCGG
8550
GGTGTGTGTG CACACACACA TGCTGGCAT
G
CAGATGTGTA TGCTTTATGT
8600 |
var(8580):[T:0.03]
GTGTGTATGG GAGTAGGGTG AGTGCGCCTG TGTCTCT
G
TG TGTGCACATA
8650 |
var(8638):[C:0.02]
AGTGTGGTGA GTGTGCATGT ATGTGTTTAT GTGTACACAT ATGTAACTGT
8700
GCACACTCAT GTTTGTGTGC CCATGTTTGT GTGTTTATAT GTAAGTGTAC
8750
ATATGTGTGT GCCTGTGCCT TGCATTTGTG TGAGTGTGCA CATGGGCATG
8800
CCTATGTGTA TGAGTGTGTA TGTGAGTGTG GTGAGTTGCT TCTGTGCACA
8850
CACTTTTGTT TATGAGTGTG CATGCAAGTG TGATGAGTGT GAAAGTGTTC
8900
CTGT
A
GACAT GTTTGCCTGT GTGTGCA
T
AT GTGTATTTGT GGGCAAACGC
8950 |
var(8905):[G:0.03]
|
var(8928):[C:0.18]
AGCTGTGTCT GTGAGTGTGA GTGTGCCTTC TGTGTGTGTG TGTGCACGTG
9000
AATGTGGTGA GTGTGTCTGT GTGTTAACAC AAGTGTGTTC AAGAGTGTGT
9050
TATATGAGCA TATAATGCAT GTGTGTATTC TCGAGGGCTG AGGGACCCAG
9100
CCCCACCTTC ACCA
C
CTGCT AACTGTCCCC ACCCCCACAG
C
A
G
G
C
C
C
A
G
C
9150 |
var(9115):[T:0.02]
| Exon 6
Q A Q 196
A
C
A
G
G
G
A
T
C
A
C
A
T
T
G
T
C
G
G
G
G
T
G
A
C
C
T
G
G
C
T
T
A
T
A
C
T
T
G
A
A
G
C
C
T
T
T
G
A
G
9200
H R D H I V G V T W L I L E A F E 213
C
T
G
G
A
C
C
C
T
G
G
C
T
T
T
A
T
C
C
A
T
G
A
G
G
C
C
A
G
G
C
T
G
C
G
T
G
T
C
C
A
G
A
T
G
G
C
C
A
C
9250
L D P G F I H E A R L R V Q M A T 230
A
C
T
G
G
A
G
G
A
T
G
A
T
G
T
G
G
T
A
G
A
G
G
A
G
G
A
G
C
G
T
T
A
T
A
C
A
G
G
C
C
A
G
T
G
G
A
G
T
G
9300 |
var(9276):[C:0.02]
L E D D V V E E E R Y T G Q W S 246
A
G
T
G
G
A
G
C
C
A
G
C
C
T
G
T
G
T
G
C
T
T
C
C
A
G
G
C
T
C
C
C
C
A
G
A
G
A
C
A
A
G
GTGGGCAC
9350
E W S Q P V C F Q A P Q R Q 260
TGCTGTGGCT GCTGCACTTC CAGCGGAGTC TGGGCTGGGC GTCTTCTCCC
9400
CTGTTCACCT CAGCCCTGCA CCCTTTCACC CTCCTGTAAG CCCCTCCCCG
9450
AGGCAGCCAT GCCTCAGTTG ACCCCCTTCC TCTGAAGGTC TGAGGTCTGT
9500
AGGGAGGACA GAAACACCTG CCAACTCTGG GGCTTCCTGG GAACCTGTAG
9550
TTAGTGGCTG CTGTTAGGAG TGAGGGTGGC AGGGC
T
GCAC ACCAGGGCTG
9600 |
var(9586):[C:0.01]
GGCTCCTGCC TGGAGGCTGG ACATGACCTC AGTGTCCTTA ATGGGGGCTG
9650
GACTGACCCT TGCGCACTGC AGTGCTGAGA
T
GGCCCAGGG AC
T
TTATGAC
9700 |
var(9681):[C:0.09]
|
var(9693):[C:0.02]
CCACCTTGTG GCAGATGGGA AGAGTGAGGC CCAGGAGTGT GGTTCACACA
9750
AGGTCCTTCA GCAGGTGACA CAAACCTCCA AGGCCCATCA CAAGGTCCTT
9800
CAGCAG
G
TGA CACAAACCTC CAAGGCCCAT CACAAACCTT CCACTTTGGC
9850 |
var(9807):[A:0.02]
CCAGGGCACT AAAGGG
C
GCA CCTTTGCCAG GTGGGTTTGG GGGGAGCCTC
9900 |
var(9867):[T:0.08]
CTGGCACTGA GGCTGCTCAC AGCCCTGG
G
C CCTTCCTG
T
C CAC
A
G
G
C
C
C
T
9950 |
var(9929):[C:0.02]
|
var(9939):[C:0.02]
|
var(9944):[G:0.02]
| Exon 7
G P 262
C
T
G
A
T
C
C
C
A
C
C
C
T
G
G
G
G
G
T
G
G
C
C
A
G
G
C
A
A
C
A
C
C
C
T
T
G
T
T
G
C
T
G
T
G
T
C
C
A
T
10000
L I P P W G W P G N T L V A V S I 279
C
T
T
T
C
T
C
C
T
G
C
T
G
A
C
T
G
G
C
C
C
G
A
C
C
T
A
C
C
T
C
C
T
G
T
T
C
A
A
G
C
T
G
T
C
G
C
C
C
A
10050 |
var(10027):[G:0.02]
|
var(10031):[A:0.02]
F L L L T G P T Y L L F K L S P 295
G
GTAGGTGGC TGATGTG
T
G
T
G
TGCGTGTGT GT
A
CATGTGT GAGCGGGCAA
10100 |
var(10068):[:0.95]
|
var(10083):[C:0.02]
R 296
GAGTGTGCAT GTTAGTGTAT GTGTGCAGAT GTGTGACTGT GTGCATGTGT
10150
GAGTGTGTGG TGGGTGGGCC
G
TCAAGGGCC
G
CCCTTGTCT GGTTCCT
C
CC
10200 |
var(10171):[A:0.41]
|
var(10181):[A:0.01]
|
var(10198):[A:0.01]
CTCCCCTCTC CACTGC
C
TGG TCCTGGACGG GGTGGGCTTT TCGAGTCTCC
10250 |
var(10217):[T:0.01]
ACCCTGGTCC AGAAGAGGGT TCTCAA
G
TTG CCAGGGGAGA GCAGGGAA
G
G
10300 |
var(10277):[C:0.26]
|
var(10299):[:0.92]
GGGGTCTGAG GCAGAGGCTG AAGATAAGGG CAGCTTGGTC CCGACCAGAC
10350
CCAGAGTCAC CGAGATCAAG AGCCGGAGGT CCTAGTCTCC TGCCTCTGGA
10400
GGAGCTTGGT TTGTTCATTT GTTCACATGT TCTACGAAAG GACAGTTGGG
10450
GCATCTGGTG TGCTCAGGAC CCTGTTCTCA GAACAAGATG GACAAGGGCC
10500
CTCCTTAAAT AAACCGTCAC GCCTCATGCA CCACATGTCA GGTTACAAGA
10550
CAGGGTGCAG GGGCCATGTC AGGCCGCAGA TGTGAGGAAG AGGGTGTGGG
10600
GAGAGGGGTG TTGGGTGGGG CTAAGTGGGA GGGTGCTTCG CTTCTCCTTG
10650
GAGCAAAGGA AAGTGT
A
AAA CTGTGTGACA CAACCTAGTT TATGTTTTGA
10700 |
var(10667):[G:0.01]
GGAATAGATT GCTGGGACAA GGGGACATGG GGGACCTGCT GGAGGCCAAT
10750
GGGGGCCAGT G
A
GGT
G
CCCA CAGGGAGACG ATTTGGCATG AGCCAGTGAA
10800 |
var(10762):[G:0.07]
|
var(10766):[T:0.02]
AGAAGTGGAG ATAGAGAAAA GTGGAGAGAA TTGCAGGGTC TCATGAGGGG
10850
AAATAGAAGG GACATGTGGG TGGATGAGAT ATGAGTGGTG ACCC
C
T
G
A
G
G
10900 |
REPEAT
T
G
G
G
G
A
A
A
T
G
G
G
G
G
A
C
A
G
C
C
T
T
G
C
A
G
G
G
A
G
G
T
T
G
G
T
G
A
A
G
T
C
T
A
T
T
T
G
G
A
10950 |
var(10914):[C:0.04]
|
var(10925):[G:0.18]
|
var(10949):[C:0.07]
C
C
T
G
T
T
G
G
G
T
T
G
G
A
G
C
C
C
C
A
G
G
T
G
A
C
A
T
C
C
T
T
G
T
G
G
G
A
G
G
G
T
C
A
G
T
G
G
A
T
11000
C
C
T
T
G
G
C
A
G
C
A
A
G
T
C
T
G
G
T
G
C
T
C
A
G
G
G
A
G
A
C
A
C
T
G
G
G
T
G
G
G
GTGGGAGCC
11050
ACAGACCTTC TGCTGATGGC AAAGACAGGG TTCCTGGAGG TGCTGGCTCC
11100
CTCTGTGATC TGAGGACCCA
G
CTAGTAACT CCCCGTTCTG AACCCGCCA
T
11150 |
var(11121):[A:0.08]
|
NOT SCANNED
C
G
C
A
G
C
T
C
A
C
G
C
T
G
T
A
A
A
G
G
A
C
G
C
G
C
G
C
C
T
C
A
G
T
A
T
A
A
A
T
C
A
G
T
T
C
T
A
T
G
11200
C
G
G
C
C
G
T
T
A
G
G
C
A
A
G
G
A
G
G
C
C
C
A
G
T
T
G
G
G
T
C
C
T
G
C
C
C
T
G
A
G
A
G
T
G
G
G
T
T
G
11250
G
A
A
T
G
T
G
A
T
G
A
G
A
T
G
G
G
A
G
A
G
A
G
G
C
A
G
T
G
G
C
A
G
G
G
A
C
G
A
G
G
T
G
G
G
C
G
G
A
C
11300
C
T
C
C
T
G
C
T
G
A
T
G
G
A
A
G
G
A
A
G
C
T
C
A
G
C
C
T
C
T
G
C
A
G
T
G
A
C
C
T
C
A
G
G
C
C
A
C
C
T
11350
G
G
G
T
C
G
C
C
A
T
A
G
G
C
C
T
C
T
G
A
C
T
G
G
C
C
T
C
T
C
T
T
G
G
C
C
T
C
A
G
G
G
T
G
A
A
G
A
G
A
11400 | Exon 8
V K R 299
A
T
C
T
T
C
T
A
C
C
A
G
A
A
C
G
T
G
C
C
C
T
C
T
C
C
A
G
C
G
A
T
G
T
T
C
T
T
C
C
A
G
C
C
C
C
T
C
T
A
11450
I F Y Q N V P S P A M F F Q P L Y 316
C
A
G
T
G
T
A
C
A
C
A
A
T
G
G
G
A
A
C
T
T
C
C
A
G
G
T
G
T
G
T
G
C
A
G
A
G
A
C
C
A
C
A
G
A
A
G
G
A
C
11500
S V H N G N F Q 324
A
T
G
G
G
G
G
G
C
A
G
G
G
G
T
T
G
C
C
C
A
G
A
G
C
T
C
T
G
G
C
C
T
G
C
C
C
A
A
G
A
T
G
T
T
G
G
C
T
T
11550
T
C
A
C
T
G
A
G
G
G
T
T
G
G
C
G
G
C
C
A
G
T
A
T
G
G
G
A
G
G
C
T
T
G
T
C
A
G
T
G
C
T
T
G
G
A
G
C
C
T
11600
T
T
T
T
T
G
T
A
T
A
T
T
C
A
G
T
G
A
A
T
T
T
C
A
A
T
T
T
A
T
A
C
G
C
G
T
A
T
C
T
C
A
A
A
T
G
G
G
G
A
11650
A
A
A
A
T
T
A
G
C
T
T
T
A
T
T
T
T
C
C
A
T
T
G
C
T
G
A
T
T
T
C
T
T
T
T
T
G
T
T
C
T
C
A
G
G
T
C
T
C
T
11700
A
G
T
T
C
C
A
T
T
G
T
T
G
A
T
T
G
A
A
A
A
A
A
T
G
T
A
A
A
T
T
T
C
T
C
A
T
A
A
C
T
T
A
T
C
T
C
T
G
T
11750
C
C
C
C
T
C
T
G
G
T
T
T
G
C
A
G
C
T
T
T
C
T
G
C
A
C
C
C
A
C
C
A
T
G
T
G
C
C
T
C
A
C
C
T
C
C
T
C
C
T
11800
T
C
T
G
C
G
A
A
G
G
T
G
T
C
T
G
T
C
C
T
G
T
G
G
C
C
A
T
G
G
G
G
A
A
G
G
G
T
C
T
G
T
G
G
T
G
T
G
T
G
11850
T
G
C
T
G
C
C
C
T
T
G
G
G
G
C
T
C
T
C
A
C
T
G
C
C
T
C
T
G
G
G
C
T
C
C
T
G
C
T
C
T
G
C
C
T
G
G
T
C
C
11900
C
C
T
G
G
T
C
T
C
C
C
C
G
G
A
T
C
A
C
A
T
G
A
T
G
G
C
A
C
C
A
C
A
G
C
T
G
A
G
G
A
G
T
G
G
G
C
T
C
T
11950
G
C
A
C
T
T
C
C
C
C
C
C
C
T
T
C
C
A
C
C
C
A
T
G
T
T
G
G
G
C
T
C
C
T
A
C
A
G
C
C
C
A
G
G
C
A
C
C
A
G
12000
T
G
A
G
C
A
A
C
T
T
G
G
G
G
G
T
T
G
C
A
T
C
A
G
C
C
C
C
T
C
C
C
C
T
C
C
C
T
G
C
T
G
G
G
C
T
G
T
T
G
12050
G
T
T
C
A
T
G
C
C
C
C
C
T
G
G
G
T
G
G
G
A
G
G
A
G
G
G
G
G
A
G
A
G
G
G
A
G
A
G
C
T
C
C
A
G
T
G
A
G
T
12100
G
G
T
C
T
C
T
G
G
T
T
T
T
T
C
C
C
C
T
C
A
G
A
C
T
C
C
T
C
A
C
T
T
T
G
G
G
C
A
A
A
G
G
A
C
A
A
G
A
G
12150
G
C
A
G
T
G
A
G
G
G
C
C
C
C
T
C
C
C
T
G
G
G
G
T
C
T
G
G
G
C
C
A
A
G
C
T
G
A
C
C
A
C
T
C
T
T
C
T
C
C
12200
A
G
A
A
T
C
T
T
C
C
C
T
C
C
C
T
G
T
C
C
C
C
T
T
C
A
C
A
C
T
G
T
G
G
C
T
C
C
A
G
C
T
T
A
C
T
A
T
G
C
12250
A
G
A
A
A
A
A
T
C
C
T
T
T
T
C
T
C
T
C
T
C
A
A
T
G
A
G
G
A
G
C
G
T
A
G
T
T
T
T
C
A
A
G
A
T
T
T
T
T
G
12300
T
C
C
A
A
A
A
A
T
A
T
A
A
T
T
T
G
A
A
C
C
A
T
G
A
A
C
C
G
G
G
C
A
T
C
T
G
G
C
T
C
T
T
G
G
C
A
G
A
G
12350
T
C
T
C
C
C
T
C
T
T
T
C
C
C
C
A
A
G
G
T
G
G
T
A
G
A
T
G
T
G
A
C
T
G
T
C
A
G
G
A
G
C
C
T
G
G
G
C
A
G
12400
C
T
G
A
C
G
A
C
A
A
G
G
C
T
G
A
G
C
A
G
G
T
C
A
G
A
T
T
G
T
G
A
C
T
G
T
C
C
C
C
T
G
G
A
C
T
G
T
C
A
12450
T
C
C
T
G
T
T
G
C
G
G
G
C
A
C
C
A
G
C
T
G
T
T
C
C
C
T
A
G
A
G
A
A
C
T
A
G
G
A
C
A
C
C
T
G
C
C
A
C
G
12500
G
G
T
T
A
T
T
T
A
G
A
C
C
T
G
C
G
G
G
T
G
A
G
G
A
T
C
T
G
G
T
G
C
C
A
T
A
G
G
T
T
G
G
T
C
T
C
C
A
G
12550
G
G
A
G
C
A
C
T
G
C
A
G
T
G
A
T
G
G
A
G
G
G
T
G
T
T
G
T
G
T
G
T
G
T
G
A
T
G
C
A
T
G
G
G
A
T
G
G
A
G
12600
G
C
T
C
C
T
G
G
T
C
C
C
A
C
C
A
A
G
G
G
A
A
C
A
G
C
T
T
C
C
T
T
T
T
G
G
A
G
G
C
G
G
G
G
G
C
C
T
C
T
12650
G
T
G
G
C
C
C
C
A
C
A
G
A
A
G
G
A
T
C
C
A
G
G
T
C
T
G
C
T
G
G
C
C
A
T
A
G
C
C
G
A
G
T
G
C
T
T
T
G
A
12700
A
A
G
T
C
A
C
C
A
G
T
C
C
T
G
A
C
A
G
C
G
A
T
T
C
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
G
T
G
T
G
12750
T
G
T
G
T
G
T
T
T
A
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
T
C
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
G
T
T
12800
T
G
T
G
T
G
T
G
T
A
T
G
T
C
T
G
T
G
T
G
T
G
T
G
T
G
T
T
T
A
T
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
12850
T
T
T
A
A
G
T
C
T
G
T
G
T
G
T
G
T
T
T
G
T
G
T
G
T
G
T
G
T
G
T
C
T
C
T
G
T
G
T
G
T
G
T
G
T
C
T
G
T
A
12900
T
C
T
G
T
G
T
G
T
G
T
T
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
T
T
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
T
12950
T
G
T
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
G
T
T
T
A
T
G
T
G
T
C
T
G
T
G
T
A
T
G
T
T
T
G
T
G
T
G
13000
T
G
T
G
T
T
T
G
T
G
T
G
T
G
T
G
T
G
T
T
T
G
T
G
T
T
T
A
T
G
T
G
T
G
T
A
T
G
T
C
T
G
T
G
T
G
T
G
T
C
13050
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
A
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
T
T
A
T
G
T
G
T
C
T
G
T
G
T
G
T
G
13100
T
T
C
G
T
G
T
G
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
G
T
G
T
T
T
G
T
G
T
G
T
G
T
A
T
G
T
C
T
G
T
13150
G
T
G
T
G
T
G
T
G
T
G
T
T
T
A
T
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
G
T
T
T
A
T
G
T
C
T
G
T
G
T
G
T
13200
G
T
T
T
G
T
G
T
G
T
G
T
G
T
G
T
C
T
C
G
T
G
T
G
T
G
T
G
T
G
T
C
T
G
T
G
T
G
T
A
T
C
T
G
T
G
T
G
T
G
13250
T
T
T
G
T
G
T
G
T
G
T
G
T
G
T
G
T
C
T
C
T
G
T
G
T
G
T
G
T
G
T
G
T
G
T
T
T
G
T
G
T
A
T
G
T
T
T
G
T
G
13300
T
G
T
G
T
G
T
G
T
G
T
G
T
G
T
G
T
T
G
G
GAATGCCCAG TCTCTGCAGC TGCTGAAAGG
13350
CCCTGAGGCA CATGCTGTCA GGAGCTGGCT CTGTCCTGGG CAGATATCAC
13400
CA
T
CTGTACC T
C
GGTTCAGG CTGCCGTGGG CACCAGGCCC
T
GTGCTGGGG
13450 |
var(13403):[G:0.30]
|
var(13412):[T:0.36]
|
var(13441):[C:0.27]
GAGTGCTGAG GAGCCTGAAG GGACTCAGGG TCCCGTGATG AGGCTGGGCT
13500
GGCACATGGA GGAAAGACAG AATGTCCAAG ACACAGGCGC TGCTTGGCCT
13550
CTGGGTGTGG ACCTCAGGAG GGCTTCCTGG AGGAGGAGGG ATGCTGGGCT
13600
TGCCAGAAAG GAGGCAGCTG CTCCCAGGAT GAGTTCT
G
AA CATGCT
A
CCT
13650 |
var(13638):[A:0.31]
|
var(13647):[G:0.33]
GAGCC
C
TTCC CTCCTCCCGT GCTCTGTTC
C
A
G
A
C
T
T
G
G
A
T
G
G
G
G
G
C
C
C
A
C
13700 |
var(13656):[T:0.33]
|
NOT SCANNED
| Exon 9
T W M G A H 330
G
G
G
G
C
C
G
G
T
G
T
G
C
T
G
T
T
G
A
G
C
C
A
G
G
A
C
T
G
T
G
C
T
G
G
C
A
C
C
C
C
A
C
A
G
G
G
A
G
C
13750
G A G V L L S Q D C A G T P Q G A 347
C
T
T
G
G
A
G
C
C
C
T
G
C
G
T
C
C
A
G
G
A
G
G
C
C
A
C
T
G
C
A
C
T
G
C
T
C
A
C
T
T
G
T
G
G
C
C
C
A
G
13800
L E P C V Q E A T A L L T C G P 363
C
G
C
G
T
C
C
T
T
G
G
A
A
A
T
C
T
G
T
G
G
C
C
C
T
G
G
A
G
G
A
G
G
A
A
C
A
G
G
A
G
G
G
C
C
C
T
G
G
G
13850
A R P W K S V A L E E E Q E G P G 380
A
C
C
A
G
G
C
T
C
C
C
G
G
G
G
A
A
C
C
T
G
A
G
C
T
C
A
G
A
G
G
A
T
G
T
G
C
T
G
C
C
A
G
C
A
G
G
G
T
G
13900
T R L P G N L S S E D V L P A G C 397
T
A
C
G
G
A
G
T
G
G
A
G
G
G
T
A
C
A
G
A
C
G
C
T
T
G
C
C
T
A
T
C
T
G
C
C
A
C
A
G
G
A
G
G
A
C
T
G
G
G
13950
T E W R V Q T L A Y L P Q E D W 413
C
C
C
C
C
A
C
G
T
C
C
C
T
G
A
C
T
A
G
G
C
C
G
G
C
T
C
C
C
C
C
A
G
A
C
T
C
A
G
A
G
G
G
C
A
G
C
A
G
G
14000
A P T S L T R P A P P D S E G S R 430
A
G
C
A
G
C
A
G
C
A
G
C
A
G
C
A
G
C
A
G
C
A
G
C
A
G
C
A
A
C
A
A
C
A
A
C
A
A
C
T
A
C
T
G
T
G
C
C
T
T
14050
S S S S S S S S S N N N N Y C A L 447
G
G
G
C
T
G
C
T
A
T
G
G
G
G
G
A
T
G
G
C
A
C
C
T
C
T
C
A
G
C
C
C
T
C
C
C
A
G
G
A
A
A
C
A
C
A
C
A
G
A
14100
G C Y G G W H L S A L P G N T Q 463
G
C
T
C
T
G
G
G
C
C
C
A
T
C
C
C
A
G
C
C
C
T
G
G
C
C
T
G
T
G
G
C
C
T
T
T
C
T
T
G
T
G
A
C
C
A
T
C
A
G
14150
S S G P I P A L A C G L S C D H Q 480
G
G
C
C
T
G
G
A
G
A
C
C
C
A
G
C
A
A
G
G
A
G
T
T
G
C
C
T
G
G
G
T
G
C
T
G
G
C
T
G
G
T
C
A
C
T
G
C
C
A
14200
G L E T Q Q G V A W V L A G H C Q 497
G
A
G
G
C
C
T
G
G
G
C
T
G
C
A
T
G
A
G
G
A
C
C
T
C
C
A
G
G
G
C
A
T
G
T
T
G
C
T
C
C
C
T
T
C
T
G
T
C
C
14250
R P G L H E D L Q G M L L P S V 513
T
C
A
G
C
A
A
G
G
C
T
C
G
G
T
C
C
T
G
G
A
C
A
T
T
C
T
A
G
G
T
C
C
C
T
G
A
C
T
C
G
C
C
A
G
A
T
G
C
A
14300 |
UTR
L S K A R S W T F 522
T
C
A
T
G
T
C
C
A
T
T
T
T
G
G
G
A
A
A
A
T
G
G
A
C
T
G
A
A
G
T
T
T
C
T
G
G
A
G
C
C
C
T
T
G
T
C
T
G
A
14350
G
A
C
T
G
A
A
C
C
T
C
C
T
G
A
G
A
A
G
G
G
G
C
C
C
C
T
A
G
C
A
G
C
G
G
T
C
A
G
A
G
G
T
C
C
T
G
T
C
T
14400
G
G
A
T
G
G
A
G
G
C
T
G
G
A
G
G
C
T
C
C
C
C
C
C
T
C
A
A
C
C
C
C
T
C
T
G
C
T
C
A
G
T
G
C
C
T
G
T
G
G
14450
G
G
A
G
C
A
G
C
C
T
C
T
A
C
C
C
T
C
A
G
C
A
T
C
C
T
G
G
CC ACAAGTTCTT CCTTCCATTG
14500
TCCCTTTTCT TTATCCCTGA CCTCTCTGAG AAGTGGGGTG TGGTCTCTCA
14550
GCTGTTCTGC CCTCATACCC TTAAAGGGCC AGCCTGGGCC CAGTGGACAC
14600
AGGTAAGGCA CCATGACCAC CTGGTGTGAC CTCTCTGTGC CTTACTGAGG
14650
CACCTTTCTA GAGATTAAAA GGGGCTTGAT GGCTGTTCCA AAGTGTTGAT
14700
GGCTGGGAGA AGGGGCCAGA GGAGGAGTGA GGGGTGGGGT TTGTCCAGCC
14750
CTGGGCTTTC CGGGCTCTAG AGATAGCATG GTGTAGGCTC AATGACAGTT
14800
CTGGGGACAG CAAGTTGGAG GTTCAGGGGC AGCTTCAGGA CAGCAGGATG
14850
GAGGCTCAGG GACAATTCCT GGGAGGCCAG TGCCCTCGTT CCTCCTTGTC
14900
CTCATCCTCC CACTTGCTCC AGGAAACTGA GAGCTGAGCC TGGAGCTTCC
14950
AGACAGTCAG TGCTGGGGGT GACCATCCAG CAGTGATGGT GGCCTGTGAA
15000
GGGTCCTGCT TCTGTCCTCA GCCTCTCATG GGGTGGGCTT GTGGAGGAGC
15050
TGTGGTCTGG AGAGAGTGGC AGTTGGAGCA GAACGTGCC
T
G
C
G
T
T
T
G
T
T
T
15100 |
REPEAT
C
C
T
A
G
G
G
C
T
G
T
C
G
T
A
A
C
A
A
A
G
T
G
C
C
A
C
A
A
A
A
T
G
G
T
T
A
G
C
T
T
A
G
A
A
C
C
A
C
A
15150
G
A
G
A
T
T
T
G
T
T
G
T
C
T
C
A
C
A
A
T
T
C
T
G
A
A
G
T
C
C
A
G
A
A
G
T
T
G
G
A
A
A
T
A
A
A
G
A
T
G
15200
T
T
G
G
C
A
G
T
G
T
T
C
C
C
A
A
C
C
A
C
A
T
G
T
T
C
T
T
G
G
G
C
T
C
C
C
A
T
G
A
A
A
C
A
G
A
A
G
T
T
15250 |
REPEAT
G
A
T
A
T
G
A
G
G
C
C
A
A
G
G
A
A
G
C
T
T
C
C
C
A
G
A
C
A
A
G
A
C
T
T
T
A
T
T
A
A
G
T
C
T
T
A
T
G
C
15300 |
var(15256):[T:0.49]
C
C
C
G
A
A
A
G
T
T
T
G
G
G
C
A
G
A
A
G
A
G
A
G
A
C
G
G
T
G
C
A
G
G
A
G
G
A
A
G
A
A
T
T
C
T
T
G
G
C
15350
T
G
A
C
T
C
C
C
CA AGGGGAATGC ATTGTGGTGT CTTAAGGAGG GTGACATACA
15400
TAATTTATGA GCTACATGAG TGTCATTGCA CATATGGGGT GGAGCG