CHUK 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
T
C
T
T
C
A
C
A
A
A
A
T
C
T
C
T
G
T
G
A
G
G
T
A
G
G
T
A
T
T
A
C
C
T
C
T
A
T
T
T
T
A
C
T
C
A
T
G
A
A
50 |
REPEAT
A
A
A
A
A
A
A
C
T
G
A
G
A
C
T
C
G
G
A
A
A
A
T
T
G
A
A
G
AT TGTGGAGCCT GGGGTCAACA
100
GGCTTAGGCT TTTTAAAAAA
C
A
G
G
C
C
A
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
G
A
T
T
G
C
A
150 |
REPEAT
G
C
A
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
G
A
C
C
T
G
A
G
A
T
C
A
G
G
A
G
T
T
T
G
A
G
200
A
C
C
A
G
C
C
T
A
G
C
C
A
A
C
A
C
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
G
C
A
A
A
A
A
250
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
T
G
C
A
T
G
C
G
C
C
T
G
T
A
A
T
G
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
300 |
var(251):[T:0.10]
T
G
A
G
G
C
A
G
T
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
T
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
350
A
G
A
T
C
A
C
A
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
C
A
T
C
T
400
C
A
A
A
C
A
A
T
A
A
C
A
A
C
A
A
C
A
A
C
A
A
C
A
A
A
A
A
A
C AACTCAAATT ACTCATGGCC
450
CTGGGAATGG GGGCATTTAA AAAGTTAACC AAGGGAACCA ACCTGGTTTC
500
CACAAAGATG GCCACTTCTG GGTCAGCCCA ATCATCAGTA TCCCTGGGTC
550
CTCAGCATCC CTTCCTACCT CTTTTGACTG GGAATTACGA GATTACAGCC
600
CCACCTACGG AAATTGAGCA CATTAGCACT GGCCATGCTG TACATACAGC
650
AAATGAGAGG GCTTCATACT GTTACAACAA TCTGTACCAC AATTCTCTGT
700
GCGGTCTGCC CAGCTCTAAA TGACATGTCC TCAGAGGCAT CATCATCTCC
750
AAGTCCATGG AAACCATGCA CTTACAGAAA CCAGAACCTC CCATACCACA
800
TGTTACTAAT GACCTACAAC ATCGACTTCG TCTGTATCAT GCAGTGCTCA
850
ACATTCTGGT TGCAGCATCA CATTTATCAA TAATTTGATT CCATGCTGAT
900
TCCTTTACTT GGAGTATTGA GATCCCCCAG GTACAGTGAA GGTATGACCC
950
TCTTAA
A
TGG AAGACCAGGA GTTGTTTCCC CTATGCTATG GCAATCCGCC
1000 |
var(957):[G:0.03]
ACCCGGAAGC ACTTGCTGCA CCAACAGC
A
T TCCCAAAGCT TGCCTCTGCA
1050 |
var(1029):[T:0.03]
GCCCTGTAGC ACCCATTAGA AACACTTCTC ACAATGAACT ACTGTGCTGG
1100
CAAACCCATA ACTGGACTGC CGGACAGCAA GCTCTGTGAG GCATCTAGGA
1150
AAAAAGCTCG CGAAATCCCG AGAAACACTC TTCACTCCGG AATAGCGTCA
1200
CATTCTTGAG TCATTTGGGA TGAC
A
G
GGGA TATCCTGGAG CAGGTGTATT
1250 |
var(1225):[:0.01]
GGGAAGTCAG TGAACAAGAA GGCTAATTCA TTAGTGGGCC TGCTAGCGTA
1300
GTATTTTAAC GATTTCGCAG CCTTTAAATC ATTGGTGGTC TTTAGCGTGC
1350
CGGATCAGCT GGTGGTGGAG TTGGAGGATA GATGGCAGGG ATCTGAAGAA
1400
AGGTGAAGTG TAGATAGGAG TAGAGACAAT ATGAAGTTTA GAAAAGACTA
1450
ATT
G
C
T
G
G
A
C
G
C
G
G
T
G
G
C
T
C
A
T
G
T
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
C
T
G
G
G
A
T
G
C
C
1500 |
REPEAT
|
var(1475):[G:0.01]
A
A
G
G
T
G
G
G
A
G
G
A
C
T
A
C
T
T
G
A
G
A
C
C
A
G
G
A
G
T
T
C
G
G
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
1550 |
var(1501):[G:0.15]
G
T
A
G
C
A
A
G
A
C
C
A
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
A
A
A
A
A
T
T
A
G
C
C
A
A
G
C
G
A
G
G
T
G
1600 |
var(1555):[A:0.01]
G
T
G
C
G
C
G
C
C
T
G
C
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
T
G
A
G
A
A
G
A
T
C
G
C
T
T
A
A
T
T
1650
C
C
G
G
G
A
G
G
T
C
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
T
G
A
T
C
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
1700
C
T
G
G
G
C
A
A
C
G
G
A
G
C
G
A
G
A
C
C
C
C
A
T
C
T
T
A
A
T
T
A
A
A
A
A
G
A
A
A
A
A
A
A
TACAGG
1750 |
var(1738):[:0.03]
AGAGACTGGG CTGCTTTGAA AAGTGGATTT GA
C
GGGAATG TGGGGTTTGG
1800 |
var(1783):[G:0.01]
AGAGATCTTA TGTTTTCCAA GACTAGAAAA ACATTGTGGT TCCGTTCAGC
1850
CCTCCCGGAA AATAC
G
TAGG GGACTTAAAG AGCGGAC
C
GA GTACCTGTTT
1900 |
var(1866):[A:0.07]
|
var(1888):[G:0.02]
GTTTCCCCAT CCCTTAGCCG GCAGGG
C
TCT GGCAGCGCCC TGGGAGAACT
1950 |
var(1927):[A:0.17]
TAGGGAAGGG CCTTCTCGCA GCGGTTACCG GAAGTGACGC ATTCATTCT
C
2000 | Exon 1 |
UTR
G
C
G
A
G
A
A
C
A
A
A
G
A
C
G
C
G
C
G
A
G
C
A
T
C
G
G
C
G
G
C
C
C
G
G
A
A
C
C
G
G
C
C
T
T
G
G
A
A
C
2050
A
A
C
T
G
T
G
G
A
A
C
C
T
G
A
G
G
C
C
G
C
T
T
G
C
C
C
T
C
C
C
G
C
C
C
C
A
T
G
G
A
G
C
G
G
C
C
C
C
C
2100
M E R P P 5
G
G
G
G
C
T
G
C
G
G
C
C
G
G
G
C
G
C
G
G
G
C
G
G
G
C
C
C
T
G
G
G
A
G
A
T
G
C
G
G
G
A
G
C
G
G
C
T
G
G
2150
G L R P G A G G P W E M R E R L 21
G
C
A
C
C
G
G
C
G
G
C
T
T
C
G
G
G
A
A
C
G
T
C
T
G
T
C
T
G
T
A
C
C
A
G
C
A
T
C
G
G
GTGAGGCGG
2200
G T G G F G N V C L Y Q H R 35
GGCGTGAGAG GGAGCGGCGG TGGGTTGGAG CGGCGGTGGG TTTGAGCGTC
2250
TGTGGAACAC AGGGCTGACA GTGTGGGATA GATGGTTGGT GGGACCTTGG
2300
GCAGTATTTG GGGGCCAGTG GGCTTGTGTG TGTGTATTAG AGAGAAAGAT
2350
ACTATGCC
T
G TGTGTCCAAA GTTGTATTTG AGGTACTGGG CATAGATAGA
2400 |
var(2359):[C:0.01]
GCTGTTGCGG GGAACTTGGG TATGACTGTC AGGCT
G
T
G
A
C
C
A
G
G
T
G
T
T
T
A
2450 |
NOT SCANNED
G
T
G
A
G
T
G
T
G
A
C
A
G
T
G
C
G
T
G
T
G
T
G
T
C
T
C
T
G
T
G
A
A
T
G
T
G
G
A
G
T
G
T
C
A
G
G
G
T
G
2500
T
G
T
G
A
G
G
C
A
G
A
T
G
C
A
C
G
T
C
A
C
A
G
T
G
T
G
T
A
T
G
T
A
G
G
A
G
C
A
C
G
A
A
T
G
T
G
T
G
A
2550
G
A
A
G
A
G
G
G
C
T
G
A
A
G
G
G
G
A
C
T
G
C
C
T
T
T
G
G
G
A
A
T
G
T
G
T
G
C
G
T
C
C
G
T
G
TGTGT
2600
GTGTGTGTGT GTGTGTGTGT GTGTGCGCGC GCGCGCGCGC GCTTGGAGGC
2650
CATATGATAT CAGTGGGGAC TGGAGTAGAC AAGGAAGGCT TCATGATGGG
2700
TCCAGAGTTA AGCCTTTGGA AGCATGGATG GGCTTTGGAA TTGGGGATGT
2750
ATTCCAGGTC GGGACAGTAT GAGGGTGAGT TGGTGCAGAG CATGGCTTCA
2800
AACGAAAGGC TATATTAGTA GATGGAGATG GGGGGCGCTC TAGTAGGTGG
2850
AGGACAGTTA ACATCAGACT CAAGAATTTT ACTTTGATTT AATAGAGAAT
2900
GTTTAACCAT TGTAGTAGCA GTTAAAAAAT CATATTTGGG TCTTG
T
T
T
G
T
2950 |
REPEAT
T
T
G
T
T
T
T
T
G
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
A
T
G
3000 |
var(2999):[C:0.12]
C
A
G
G
G
C
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
T
C
C
T
C
C
T
C
C
C
G
A
G
T
T
C
A
A
G
3050 |
var(3029):[:0.88]
C
G
A
T
T
C
T
C
C
T
G
C
C
A
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
C
G
C
C
3100 |
var(3097):[T:0.01]
A
C
C
G
T
G
C
C
T
G
G
C
T
A
A
T
T
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
C
3150
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
A
C
C
T
C
A
G
G
C
G
A
T
C
C
A
C
C
T
G
T
C
3200
T
C
A
G
G
C
T
C
C
C
A
A
A
G
T
G
C
A
G
A
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
G
G
C
A
C
C
A
G
G
C
C
3250
TGGGACATGT ATTTTTTGAT ATACCGATAA AAGCTGTGAA CCCTTTCCCC
3300
AGAAAAATGC ACAGATGCAC ATTCACACAA CCATGCATTG CCATTTGAGA
3350
GGTTCGTGCC TTCCTAAAGG ACATTTTAGG TAAATAGACC CTGGACTAAT
3400
AATTCCTGTA ATATAGG
C
T
T
T
G
T
T
T
T
G
T
T
G
C
C
T
G
T
A
A
A
G
T
A
A
G
T
A
T
A
G
T
A
3450 |
REPEAT
|
var(3434):[C:0.05]
T
A
A
T
A
A
T
T
A
C
A
T
G
C
A
T
C
A
T
G
G
A
T
T
T
G
A
G
A
G
T
T
A
A
A
T
A
A
A
A
T
A
G
T
A
A
T
G
T
G
3500 |
var(3479):[G:0.01]
T
G
T
A
A
A
G
C
T
A
A
A
T
A
C
G
G
T
A
C
C
T
G
A
C
C
C
A
T
G
A
A
A
G
C
C
C
T
C
A
A
CTGTTAGCA
3550
CCTGCTGCTA CTTTGTTGTT GTTGCTGCTA TGATCATAAT GCTCCTCATT
3600
AATTGGCCTT AAGGAAATGT CAAGATAAAA AGTGTTGTTC TAGGAAAATG
3650
GTTTTGTAAA GGATAAATTT GAGTGGAACA ACATATGGGA CAAGATGAAC
3700
AGGTAAGATC TTACTAAAAT GCCTGGGCTT GGCTTGTGAA TA
G
AGAAGTT
3750 |
var(3743):[A:0.03]
AATTCAAGAG GAAAAGTAAT AATTTGTTAT CTAAAGGAAC ATGGGTGTAG
3800
TGAGAAAGCT CGTAATTTGG GGTGGGAGAA AGGGGAGATA GGAGTCTACC
3850
TTGGGAAAAT AGGCATATTT AGGGTAATTA GAATGACAAC TGAAACTGTT
3900
AGAACTGAGG A
A
GTTTTGTG AACCAGGTTT CTAGATAGGG CATAGGAGAA
3950 |
var(3912):[G:0.28]
AATCTTGGAG AAAGAGAATG GAAG
G
TGAAG GACTAAGGCA TTAAGTCCTG
4000 |
var(3975):[T:0.01]
TGATAGCAGG ATAAGTAGTA AATTTAATAA TTCTCACCAT CAGAGGGAAC
4050
ATAACACACT AAAAAAAAAA AAAAGTGGGA GCCAAGTGCT TCCAGTGGCA
4100
TGTTGCCTGT GTTACCTAAG CCTGCCTATC CGCCTGGTCA TAAGGAAAAA
4150
GGATGCATGC TGGCAGCTTT TGTGACTTCT TTTCTTGGTC CCTGGGTGGG
4200
GATGGATGAA
T
TAATCACTT
T
T
T
G
T
T
T
T
A
T
T
A
T
G
G
T
A
A
A
G
T
A
T
A
C
A
T
A
A
C
4250 |
var(4211):[:0.01]
|
REPEAT
A
C
A
A
C
A
T
T
T
A
T
C
A
C
T
T
T
A
T
T
T
T
T
A
A
G
T
G
T
A
C
A
G
T
T
A
G
G
T
G
G
C
A
T
T
A
A
G
T
A
4300
C
A
T
T
G
A
C
G
T
T
G
T
T
G
T
A
C
A
G
C
C
A
T
A
A
C
C
C
T
A
T
C
T
C
C
A
G
A
A
T ATTCC
G
ACTT
4350 |
var(4319):[A:0.11]
|
var(4324):[C:0.30]
|
var(4346):[A:0.01]
TTTTGTTGTT GTTGTACATC TATAAACTTC CCATAGAATA TTCTTTGTGA
4400
AAAGGTAGAA TTTCACAGAG TTGATGAAAT ATAAATTAAG GAGTTGAAGG
4450
ATCTTACAAA GTGGGATTTT TGAAATAGAT AACTTATTGC TCCATTAACA
4500
TGAGCATTCA GGGCTCAGTG TTGTTCATGG TTGTGCCTGA TTCTCATTTC
4550
CATGGTGGTA AAGGCCTGCA TGGGACATAG ATATAACTGG TCACCTGCTC
4600
ATAACAAAAG GAAGATTGAA GGGAGTGAGA ACTGTGGGTA GGCTAGCATG
4650
CAGTCTATCC TAGTTTCCTT CTTCTCTATG CACCAGGTAT CATCTTATCT
4700
CTAGCTTCTT TTTTCCTCTC ACCCTCCAAT TCACACTACC CTATCCAAGC
4750
TATGTCTT
G
C TTCCCCACCT ATAATATATT TTTTCTGTCC TGGCCCCTGG
4800 |
var(4759):[C:0.01]
GCTCTTCTCT CTGTATTCAT ACACAGCCTT TATTACAACT CTGGTTTGTG
4850
TCAGAGATTA CATATGTTGG AAATTCTTTT GAACTCTCCT TGTGATATCA
4900
GAAACATAGT GTAGCCTGTT TAGCCCTGAC TGCTATTTCT GAGCTGCATT
4950
ATTAATGTTG CCAGAATATG ATGGGGTCTG GCTATTTCCT GTAATATGCA
5000
TCAGAATGGG TTTAATTTCA GTCAGAATTG GCTAAATTAC TAGTCACAGG
5050
CAAGAGATGT TAGGTTCATT ATGTAGCTAT GGAAGCAGAA GTACACTCAT
5100
TGGTAGGATT TTTTTTCTTC ATGTCATTTG AAATGCATAC ATTAGGATTG
5150
GAGTTTTTTG CTTTAGGCTT GGTTATATTA AAACTTTCT
C
TTGCTGTTTG
5200 |
var(5190):[T:0.01]
GAGTCCAGGA AGCCCTGAAT TACCTTCTTC ATTTTAGTTA TGCTAGAAGC
5250
TGGGGCACAT ATTAGTTGTC TTGATTAAGC TCTGAAAGGG GTTTGCTGAG
5300
GAGACAGGAT CTTTTTTTTT CT
A
ACATTAT ATATGAGAGA GAGTTCTGAA
5350 |
var(5323):[G:0.01]
AAGACCTGTT ATAAAATCAG TTTCAGGCAC TTTTCCCTTG TATGCTGTTG
5400
TGTGTTTGAA GGTCAGTTTT AAAGCAT
T
GG TGTAATAGTC TCATGGTTTA
5450 |
var(5428):[G:0.03]
TCTTTTTAAA AAGCATTGCC TCAAGAGAGC TGTGGATAAA TATATTTAAT
5500
TAGTAAAGCT AAAAAGTTTT GTTGTCTTAA GTTATTTCTT TGGTAGCAAA
5550
TAAATCTTCA CAAGAACCTA ATTTTTTTTT TCTGTTGATT TTCTATTTTG
5600
GCAG
G
A
A
C
T
T
G
A
T
C
T
C
A
A
A
A
T
A
G
C
A
A
T
T
A
A
G
T
C
T
T
G
T
C
G
C
C
T
A
G
A
G
C
T
A
A
5650 | Exon 2
E L D L K I A I K S C R L E L 50
G
T
A
C
C
A
A
A
A
A
C
A
G
A
G
A
A
C
G
A
T
G
G
T
G
C
C
A
T
G
A
A
A
T
C
C
A
G
A
T
T
A
T
G
A
A
G
A
A
G
5700
S T K N R E R W C H E I Q I M K K 67
TAAGTGTATT CCTTGACTTA CATTTCCCTG GTTCTACAGC CCA
A
CCAGAT
5750 |
var(5744):[G:0.03]
GTCATCATGG GGAAAGAGGC CAGGAATCCA CTCTTCTCAG GATCTTTTTG
5800
GGAACATATA TTTTTTTCTC TCATTAAATA TATTCTATTT CAAATAATAA
5850
TATCACATTA AGATTAAGAA GGTTTAGTTA AAATCAGC
T
A
G
G
A
C
A
C
T
T
A
C
5900 |
REPEAT
A
C
A
C
T
G
T
T
G
G
T
G
G
G
A
A
T
G
T
A
A
A
A
T
T
G
T
G
C
A
A
C
T
G
T
T
A
C
G
G
A
A
A
A
C
A
G
T
A
C
5950
G
G
T
G
A
T
T
C
C
T
A
A
A
A
A
A
T
T
A
A
A
A
A
T
A
G
A
A
T
T
A
C
C
A
T
A
T
G
A
T
C
C
A
G
C
A
A
T
T
C
6000
C
A
T
T
T
C
T
G
G
G
T
A
T
A
T
A
C
A
A
A
A
A
T
G
A
A
T
T
G
A
A
A
G
C
A
G
G
G
A
C
T
T
A
A
A
G
A
G
T
A
6050
A
T
T
T
G
T
A
C
A
C
T
C
A
T
A
T
T
C
A
T
A
A
C
A
T
T
A
T
T
A
T
T
C
A
C
A
A
T
A
G
C
T
G
A
A
A
G
G
T
A
6100
A
A
A
G
C
A
A
C
C
C
A
G
T
A
T
C
T
A
C
C
A
G
C
A
G
A
G
A
C
A
T
G
T
A
T
A
A
A
C
A
A
A
A
T
G
T
G
G
T
A
6150
T
A
T
T
C
A
T
G
A
A
A
C
G
G
A
A
T
A
T
C
A
T
G
C
A
G
C
C
T
T
A
A
A
A
A
G
G
A
A
T
G
A
A
A
C
T
C
T
G
A
6200 |
var(6165):[G:0.01]
|
var(6174):[T:0.06]
C
A
C
A
T
G
C
C
A
C
A
G
C
A
T
G
G
A
T
G
A
A
T
C
T
T
G
T
G
G
A
C
A
T
T
A
T
G
C
T
A
A
A
T
G
A
A
A
T
A
6250
A
G
C
C
A
G
T
C
A
C
A
A
A
A
A
G
A
C
A
A
A
T
A
C
T
G
T
G
T
C
A
T
T
C
C
A
C
T
T
A
T
G
T
G
T
G
G
T
A
C
6300 |
var(6292):[A:0.30]
C
T
A
G
A
G
T
A
G
T
C
A
A
A
C
T
C
A
C
A
G
T
G
A
A
A
G
A
A
A
G
T
A
G
A
A
T
G
G
T
G
T
T
T
G
C
C
A
G
A
6350
G
G
G
T
G
A
A
G
G
G
A
C
C
A
G
C
A
A
A
T
A
G
A
G
A
A
T
A
A
T
T
T
T
T
A
A
T
A
G
G
T
G
C
G
G
A
G
T
T
T
6400 |
var(6393):[T:0.02]
C
A
G
C
T
T
T
G
C
A
G
A
A
T
T
A
A
A
C
A
G
T
T
T
T
G
T
G
C
A
G
T
A
T
A
G
T
G
A
T
A
G
T
A
G
C
A
A
A
A
6450
C
A
T
T
G
T
G
A
A
A
G
T
A
T
T
T
G
A
T
G
C
C
A
G
G
C
T
G
G
G
C
A
T
G
T
T
G
G
C
T
C
A
C
A
C
T
G
T
A
A
6500 |
REPEAT
T
T
C
C
A
A
C
A
C
T
T
T
G
A
G
A
G
G
C
T
G
A
G
G
T
G
G
G
T
G
G
A
T
T
G
C
T
T
G
A
G
C
T
C
A
G
G
A
G
T
6550
T
C
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
C
A
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
T
6600
A
A
A
A
A
C
T
A
G
C
T
A
T
G
T
G
T
G
G
T
G
G
T
G
C
A
T
G
C
C
C
G
T
A
G
T
C
C
C
A
G
T
T
A
C
T
T
G
G
G
6650
A
G
G
C
T
G
A
G
G
T
G
G
G
A
A
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
G
T
C
A
A
G
G
C
T
A
C
A
G
T
G
A
6700
G
C
T
G
A
G
A
T
C
A
T
A
C
C
A
C
T
G
T
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
C
A
A
G
A
C
C
C
T
6750
G
T
C
T
G
A
A
A
A
A
A
A
A
G
G
A
A
A
G
C
A
T
C
T
T
G
A
T
G
C
C
A
C
T
A
A
A
C
T
G
T
A
C
A
C
T
T
A
A
A
6800 |
REPEAT
A
A
T
G
G
T
T
A
A
G
G
T
G
G
T
A
A
A
T
T
T
T
A
T
G
C
T
A
T
G
T
G
T
G
T
T
T
T
A
C
C
A
C
A
A
T
C
A
A
A
6850
A
A
A
CTATTTC ATTTCAGTTA ACAAAAGTCA GCTAG
G
G
C
C
G
G
G
C
G
T
G
G
T
G
G
6900 |
REPEAT
C
T
C
A
C
A
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
A
T
G
G
A
T
T
A
C
C
6950
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
C
G
G
T
C
A
A
C
A
T
G
G
C
A
A
A
A
C
C
C
C
A
T
C
T
7000
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
T
G
T
G
G
T
G
G
C
G
G
G
T
G
C
C
T
G
T
A
A
T
C
7050
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
C
G
A
G
G
G
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
7100
G
A
G
G
T
T
G
C
G
G
T
A
A
G
C
T
G
A
G
A
T
C
A
T
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
T
7150
C
C
G
T
C
T
C
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
T
A
A
A
A
A
A
T
A
A
A
T
T
A
C
C
C
C
A
A
C
A
T
T
7200 |
REPEAT
T
A
G
T
G
G
C
T
T
A
A
A
A
T
A
G
C
A
A
A
C
A
T
T
T
A
G
T
A
T
C
T
T
A
T
A
G
T
T
T
C
T
G
T
G
A
C
T
T
A
7250 |
var(7206):[A:0.02]
G
G
A
A
T
T
T
G
G
G
A
G
T
G
G
C
T
T
A
G
C
T
G
G
G
T
G
A
T
T
C
T
A
G
C
T
T
A
G
A
G
T
C
T
T
T
C
C
T
G
7300
A
G
A
C
A
T
C
T
C
A
G
G
A
T
A
T
T
G
G
T
C
G
G
A
G
C
T
G
C
A
G
T
A
A
T
C
C
A
A
A
G
G
C
T
T
G
A
C
T
G
7350
G
G
G
C
T
G
G
A
G
T
A
T
C
T
G
C
T
T
C
C
A
T
G
C
T
C
A
C
T
T
A
T
A
T
G
A
A
T
G
T
T
G
G
C
C
A
A
A
A
G
7400
C
A
T
C
A
G
T
T
C
T
T
C
G
C
C
A
T
G
T
G
G
G
C
C
T
C
T
T
C
A
T
G
G
G
G
A
A
G
C
T
T
G
A
A
T
G
T
T
T
T
7450
C
A
T
G
A
C
A
T
G
G
A
A
G
C
T
A
G
C
T
T
T
C
C
C
C
A
G
A
A
A
G
A
T
C
T
T
T
T
C
C
T
C
A
G
A
A
A
G
A
G
7500
T
G
A
G
T
G
A
T
C
T
GAGAGAGAGA GAGAGAGAGA GAGAG
T
G
A
A
C
G
A
G
C
G
A
G
C
A
A
7550 |
REPEAT
G
A
T
G
A
A
A
A
C
C
G
A
C
G
T
A
T
C
T
T
T
T
A
T
G
A
T
C
T
T
T
A
C
T
T
G
G
A
A
G
T
G
A
G
A
C
T
C
C
A
7600
T
C
C
T
T
T
T
C
C
A
C
C
A
C
A
T
T
C
T
G
T
T
T
G
T
T
A
C
A
G
T
G
A
G
T
C
A
C
T
A
A
G
T
A
C
A
G
C
C
T
7650
A
C
A
T
T
C
A
A
G
G
G
G
A
G
G
A
G
A
G
T
T
A
A
G
C
T
C
T
T
A
A
A
A
A
G
A
G
A
A
G
T
A
G
A
C
A
T
A
T
T
7700
T
T
A
A
A
A
C
T
T
C
C
A
C
A
G
G
T
A
G
T
G
T
G
C
T
A
A
G
T
A
C
T
T
T
A
C
A
G
A
T
C
A
T
T
C
T
T
C
C
A
7750 |
REPEAT
G
T
T
A
T
C
A
C
A
G
C
A
A
T
C
T
T
A
T
A
T
T
T
A
G
G
T
A
T
T
A
T
T
T
T
G
C
A
A
A
T
G
A
G
G
A
A
G
T
T
7800
G
A
A
G
C
T
T
A
T
A
G
A
A
T
C
A
C
A
T
A
G
C
T
G
G
T
G
G
T
T
G
G
T
A
A
A
G
T
G
T
G
G
A
T
T
T
G
A
A
A
7850
T
A
A
A
T
A
C
T
T
T
C
T
G
A
C
T
C
T
A
A
T
A
T
C
T
G
T
G
C
T
TAATTCCATT T
T
G
A
T
T
C
T
C
A
7900 |
REPEAT
A
A
C
T
T
G
G
T
T
A
T
G
T
G
G
C
A
G
A
A
T
C
A
C
C
A
G
G
A
A
A
G
C
T
T
A
A
T
A
G
T
A
T
A
A
A
T
T
A
T
7950
C
A
G
G
T
C
C
T
A
C
A
T
G
T
A
C
A
T
G
G
A
A
A
T
T
C
T
G
T
T
T
GCTTCTTTT TC
T
T
T
T
T
T
T
C
8000 |
var(7966):[T:0.29]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
A
A
A
A
G
A
G
A
T
G
T
G
G
T
C
T
T
G
C
T
A
T
G
T
T
A
C
C
C
A
G
G
C
T
T
G
A
C
T
8050
T
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
G
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
T
G
G
A
G
T
A
G
C
T
G
8100
G
G
A
C
T
A
T
A
G
G
C
A
T
G
C
G
C
C
A
C
C
A
C
A
C
C
C
G
G
C
T
A
A
T
T
T
T
T
A
A
T
T
T
T
T
T
G
T
A
G
8150
A
G
A
T
G
A
G
G
T
C
T
C
A
C
T
G
T
G
T
T
A
C
C
C
A
T
G
C
T
G
A
T
C
T
C
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
8200
A
G
C
A
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
T
T
G
T
T
G
G
G
A
T
T
A
C
A
G
T
T
A
C
A
A
C
8250
T
A
C
A
C
C
C
A
G
C
C
TA
G
A
A
C
G
C
C
A
G
A
T
T
T
G
A
C
T
T
A
C
T
C
A
C
T
G
T
G
T
G
A
T
C
T
T
G
T
8300 |
REPEAT
T
A
C
T
T
A
G
C
C
A
A
T
T
T
G
T
G
C
T
T
C
A
A
T
T
T
T
C
T
C
C
T
G
T
G
T
G
G
T
G
A
A
A
G
T
A
T
T
A
A
8350
T
A
A
A
T
C
T
A
C
C
T
A
T
A
A
T
A
G
G
A
T
T
A
T
T
G
T
G
A
C
A
A
G
T
A
A
C
T
G
A
G
T
T
A
A
T
A
T
A
T
8400
T
T
A
A
A
A
T
G
T
T
T
A
C
T
G
C
T
T
G
G
C
A
C
T
T
A
G
A
A
A
TGTAATAGTA GTAATAGTGA
8450
TGGTATTTTT ATGTGTGTTT TCTTTTAAAA AATTACTAAT TTTTAATTAT
8500
ACAAATCAGA AATTAGAATA TTATAAATAA TACTGATCTT T
C
CCCCTCTG
8550 |
var(8542):[T:0.03]
TTCATCCACC CACAATTAAG TAGCATTTCA AATCCAGTCC CTTTTTATTG
8600
GAAATAATTT TTTTTATTGT AATGTTTTTC TTTCTTATTA G
G
T
T
G
A
A
C
C
A
8650 | Exon 3
L N H 70
T
G
C
C
A
A
T
G
T
T
G
T
A
A
A
G
G
C
C
T
G
T
G
A
T
G
T
T
C
C
T
G
A
A
G
A
A
T
T
G
A
A
T
A
T
T
T
T
G
A
8700
A N V V K A C D V P E E L N I L 86
T
T
C
A
T
G
A
T
G
T
G
C
C
T
C
T
T
C
T
A
G
C
A
A
T
G
G
A
A
T
A
C
T
G
T
T
C
T
G
G
A
G
G
A
G
A
T
C
T
C
8750
I H D V P L L A M E Y C S G G D L 103
C
G
A
A
A
G
GTAG TGTGGATGTT TTGAGATGAG AGAGAGTAAA TCACAAACTT
8800
R K 105
TAGCAATGTT TGAATCATGT TAAATATAAT AAACTAGAAT AAGAATCGGA
8850
AAAACTAT
G
G
T
C
T
G
C
T
T
C
C
T
G
T
T
T
T
G
T
A
A
A
T
A
A
A
G
T
T
T
T
A
T
T
G
G
A
A
C
A
C
A
8900 |
REPEAT
|
var(8882):[C:0.03]
G
C
C
A
C
A
T
T
C
A
T
T
T
C
T
T
T
A
C
A
C
A
T
T
G
T
C
T
A
T
G
G
C
T
G
C
T
T
T
C
T
T
A
T
G
G
C
T
G
C
8950
A
G
A
A
G
T
G
A
G
T
A
G
T
T
T
T
A
A
C
A
G
A
G
A
C
T
A
T
G
T
G
A
C
T
T
G
C
A
A
A
A
C
C
T
A
A
A
G
T
A
9000
T
T
T
A
C
C
A
T
A
T
G
G
T
T
C
C
T
T
A
C
A
G
A
A
A
A
T
G
T
T
G
A
C
T
C
C
T
G
AT TTAGAAAATG
9050
CATTTTTGTT GTTGCTGTTT GATGGGACTA TAGCAATGGT GTTAGATGAA
9100
AATTTCAGTG GTTAAGGTGC TTATAAAAAG TTGTTTTCTG TATTGCAATC
9150
TTTTTTTTCT ACCTAATTTT AAATGTGCCC ATATGACCAT TTTTATATAT
9200
ATCCATGAGA TTTGTCAGCC TTTTCCAGTT TCAAATGCTT TTTGCCTCTT
9250
TTTACTTTTA TGAGCCTTAT CATGAAATTT ACATGCCCTC AGTATGGATT
9300
TGGTAATTTT ATTCCCTTG
T
ATTTTATTAT GACTTATTTT CTCATTTGAA
9350 |
var(9320):[C:0.11]
TATTCTTTTA GA
G
TATAGTA ATTAATGTGT GGTCACTATT GCAGCCCAGC
9400 |
var(9363):[A:0.01]
AATTTGCAGA ACAGATTTTT AGATTTCTTT CTTTTTTTAG
C
T
G
C
T
C
A
A
C
A
9450 | Exon 4
L L N 108
A
A
C
C
A
G
A
A
A
A
T
T
G
T
T
G
T
G
G
A
C
T
T
A
A
A
G
A
A
A
G
C
C
A
G
A
T
A
C
T
T
T
C
T
T
T
A
C
T
A
9500
K P E N C C G L K E S Q I L S L L 125
A
G
T
G
A
T
A
T
A
G
GTACGTATCA GTATTAAAAT ACCATTGTAA TGTAATGTCC
9550
S D I 128
CTTTGGCCCA TAAAAGATCT TTTTGGGAAT TCAGGAGAAT TGTTGATACA
9600
CTATACAAAG TCTATAGAAT TTCAACATCT ATAAGAAGTT ATAAAAATCT
9650
ATTACTATTG ATGCTAAATT AAAACTAGGA TATTTT
G
G
C
T
A
G
G
T
G
C
G
G
T
G
9700 |
REPEAT
|
var(9700):[A:0.01]
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
C
A
A
G
G
T
A
G
G
C
G
G
A
T
C
A
C
9750
A
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
A
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
9800 |
var(9783):[G:0.01]
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
C
A
A
T
G
C
C
G
C
A
T
G
C
C
T
G
T
A
G
T
C
C
9850
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
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
A
T
A
G
9900
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
T
T
G
G
A
C
A
A
C
A
G
9950 |
NOT SCANNED
A
G
T
G
A
G
A
C
T
T
T
G
T
C
A
C
A
C
A
C
A
C
A
C
A
A
A
A
A
G
A
A
A
C
T
A
G
G
A
T
A
T
T
T
T
A
T
T
A
T
10000
T
T
A
T
T
T
G
T
G
G
C
T
A
A
G
A
G
T
C
C
T
T
T
T
T
T
T
G
T
C
T
A
A
T
A
G
A
T
G
T
T
C
C
A
A
T
A
G
C
T
10050
G
A
C
A
A
A
A
A
A
A
T
C
A
T
G
T
G
A
A
A
T
G
A
C
C
T
T
A
C
T
C
A
A
T
T
T
C
T
C
T
C
C
C
C
C
C
C
T
A
C
10100
C
A
T
T
G
A
C
A
T
A
G
T
A
A
T
T
T
T
G
T
T
T
A
C
A
G
T
G
G
A
A
T
T
A
C
A
T
C
T
C
C
T
T
G
A
G
G
G
A
T
10150
G
G
G
T
C
C
T
C
A
A
G
T
C
A
A
C
T
C
T
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
A
10200 |
REPEAT
G
C
T
C
T
G
T
T
G
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
T
C
A
G
C
T
T
A
C
T
G
T
A
A
10250 |
var(10226):[A:0.30]
C
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
10300
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
T
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
10350
A
C
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
T
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
10400
C
T
C
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
A
G
C
G
T
G
10450
A
G
C
C
A
C
C
G
C
A
C
C
C
A
G
C
C
AAG TCAACTCTTC AGGGTGAAAA ATCTCTGCTT
10500 |
var(10465):[T:0.08]
AATCAGAATG ACTCCAGAAA AATTCCTAAA ATAACCAGTA CCTAACCTTT
10550
TGGAGGAACC TCAAAAACCA AAAATTTGTT TCCCCATAGA TTTTGGTTTT
10600
GCCTCTTTTC CAAGGTCATG AGGGCTAAAG TCCAATTGAA AT
G
AGTGATT
10650 |
var(10643):[A:0.01]
TAGGTG
G
GAG AAAGAGGCTT A
T
AAGAGTTT CAGGGATTTT CCCAATTGCT
10700 |
var(10657):[A:0.11]
|
var(10672):[G:0.11]
TGTTGCATTT CTATTTGGTG TTAATTCTAA TGAGTTAAAT GAACATATAG
10750
TATAATTTTG TAGTATTTGT TTAATGTTAC TTTTTTTTCT
G
TGAAGAAAA
10800 |
var(10791):[T:0.02]
CCTGGAC
T
AC TGTAGTATTA GTTGTGTAGT TACGATGATC CATATAAACT
10850 |
var(10808):[:0.66]
TGAGCATCAG AGTAGATTTG TACAAAATGT GAGGT
G
AATT TTTCTTTTAA
10900 |
var(10886):[C:0.01]
CTCAATGATT TCTGTTACTT
C
AAAGTATAT TTTAAACTTT ATTTAG
G
G
T
C
10950 |
var(10921):[T:0.07]
| Exon 5
G S 130
T
G
G
G
A
T
T
C
G
A
T
A
T
T
T
G
C
A
T
G
A
A
A
A
C
A
A
A
A
T
T
A
T
A
C
A
T
C
G
A
G
A
T
C
T
A
A
A
A
C
11000
G I R Y L H E N K I I H R D L K 146
C
T
G
A
A
A
A
C
A
T
A
G
T
T
C
T
T
C
A
G
G
A
T
G
T
T
G
G
T
G
G
A
A
A
G
GTAGG TGAAACCTGA
11050
P E N I V L Q D V G G K 158
AGTAATGTTT CATGCCT
A
TT GAATATAGTC TCTCTGATAT AGTTAGTCCT
11100 |
var(11068):[G:0.01]
TGAGCTTTGG TGTCTTTGCT GTATGCCCAT AACAGTCTTA CTTTTTCCAT
11150
TTCAGACCTC ACCACACTGA ACTGTAGTTT TGTGTTTAGT TTTTTTGTCC
11200
CTTCTGCTAA ACAGTGGTTC CATCAGAGAA GGAACAGCAC CTG
C
TTTTTT
11250 |
var(11244):[:0.08]
TTTCTTTTTC TTTTTTTTCA TTTTTCATAC TTAACCCAGC TCCTAGACTT
11300
CACCTGTCTT GTT
C
AAGTCT GTTTTTCCAT CATAGTATCT AGCAAAGATA
11350 |
var(11314):[T:0.01]
CAGGCTGTGA ATACATAATA TGTTAACACT TATTATTTTA TTCTTATGAA
11400
GCACATCCAA AACACATACA TGCACATCCT GGGTCCACTT TAAGAAAAAA
11450
AAGAAAGT
A
T ATATATTTTT AAAACTTATT TTCCTTCCCC CAATTTAAAT
11500 |
var(11459):[G:0.09]
GAGTCATCTG GAGAAGAACC AGAAATTGTG AATTGACTCT TAAAATGTTC
11550
ATTTCATTGG TAACTTAAGC AGTTTTCTTG TTTCCAGCAT CCAAATTTCA
11600
TTCCAATAAA GACTTAAAGG CCAAGAGTCT GAACCTTGTG TTGAGTTGTG
11650
TGTGCCGTCT CTTTAGTTAG TGAAAATAGT TGTTGGCCTC TTGGAGGTGT
11700
TGGAACCTTG GTGATGCCTC TTCTCTTAGG AACCTTTCAC GTATGCTTGG
11750
CACCAAATAT CTCTGCTTTT TTTTTTTTTA ATCCAAAGAC TTCAGGACAT
11800
TCCTGAAGTT AGATCTAAGT ATTTACTCAC ATTTAATCTA CTATAAGGAG
11850
GTATGATGCT TCTTCAAGTT TGGAAGTCAC CCTTGCCTTT ACTTTCC
A
GT
11900 |
var(11898):[G:0.05]
TTAATGGATT GAGCTTATTT TGAATATAGT AAAATAAAAA T
T
A
A
T
A
G
C
C
C
11950 |
REPEAT
A
C
C
T
G
T
A
T
T
C
A
A
T
T
T
T
T
A
C
C
A
T
G
T
A
C
C
A
A
G
C
A
C
T
G
T
G
T
T
A
C
C
T
T
C
T
T
T
A
C
12000 |
var(11962):[G:0.05]
T
T
T
C
G
T
T
A
T
T
T
C
A
T
T
G
G
A
T
C
C
T
A
A
T
A
A
C
A
A
T
T
C
T
G
T
G
A
A
G
C
A
G
G
G
A
C
T
G
T
12050
T
A
G
T
C
A
T
C
C
A
A
T
T
A
G
A
T
T
A
C
T
G
A
G
A
G
A
G
G
T
T
A
A
A
T
A
A
C
T
T
G
G
T
A
G
A
T
C
A
C
12100
A
T
G
C
C
T
A
G
T
T
A
A
G
T
G
G
T
G
G
C
A
C
T
C
A
G
A
C
T
T
G
A
A
A
T
A
T
T
T
T
T
G
T
G
T
T
A
T
T
A
12150 |
var(12127):[G:0.12]
C
A
G
A
G
C
C
C
A
A
G
G
T
C
C
T
C
A
C
C
A
C
T
A
C
C
C
T
G
T
CTA
C
AGCCTC GTAAGGATAT
12200 |
var(12184):[T:0.06]
TGTTGTCTTT CCTTTTTAAA TTTCTCTACC ATTTAATACT TAATCTGTCT
12250
TATTATTTTG CAG
A
T
A
A
T
A
C
A
T
A
A
A
A
T
A
A
T
T
G
A
T
C
T
G
G
G
A
T
A
T
G
C
C
A
A
A
G
12300 | Exon 6
I I H K I I D L G Y A K 170
A
T
G
T
T
G
A
T
C
A
A
G
G
A
A
G
T
C
T
G
T
G
T
A
C
A
T
C
T
T
T
T
G
T
G
G
G
A
A
C
A
C
T
G
C
A
G
T
A
T
12350
D V D Q G S L C T S F V G T L Q Y 187
C
T
G
GTGAGAC CTGTTTTGTT TCTTTGAATT TAAGTGTGTA TAGGATTCTC
12400
L 188
TTATTTCTGA AGATCATGAA TATAGTAGGT CAAAAATAAA GTAGCTTTTC
12450
CCATACAGTG TTGGTGTTTA AAGCATTTTC TCTTTTGAAG
G
C
C
C
C
A
G
A
G
C
12500 | Exon 7
A P E 191
T
C
T
T
T
G
A
G
A
A
T
A
A
G
C
C
T
T
A
C
A
C
A
G
C
C
A
C
T
G
T
T
G
A
T
T
A
T
T
G
G
A
G
C
T
T
T
G
G
G
12550 |
var(12538):[C:0.01]
L F E N K P Y T A T V D Y W S F G 208
A
C
C
A
T
G
G
T
A
T
T
T
G
A
A
T
G
T
A
T
T
G
C
T
G
G
A
T
A
T
A
G
G
C
C
T
T
T
T
T
T
G
C
A
T
C
A
T
C
T
12600
T M V F E C I A G Y R P F L H H L 225
G
C
A
G
C
C
A
T
T
T
A
C
C
T
G
GTAAG AAATGGATGA GAACTTGGGC ATGCTTAATG
12650
Q P F T W 230
GGAATGGAAA TTTTTTCATT TGTCTTTTTT TTTCTTTCTT TAA
T
TGTTTA
12700 |
var(12694):[G:0.11]
ATTGCCTTTG AAATATACAA TTAAATATAA TTAAATGGCA AGAAATCTTA
12750
ATTTGTGAGA ATCACTTTGT CAACTGAGGT AGCTTTTGAT TTTATAG
G
C
A
12800 | Exon 8
H 231
T
G
A
G
A
A
G
A
T
T
A
A
G
A
A
G
A
A
G
G
A
T
C
C
A
A
A
G
T
G
T
A
T
A
T
T
T
G
C
A
T
G
T
G
A
A
G
A
G
A
12850
E K I K K K D P K C I F A C E E 247
T
G
T
C
A
G
G
A
G
A
A
G
T
T
C
G
G
T
T
T
A
G
T
A
G
C
C
A
T
T
T
A
C
C
T
C
A
A
C
C
A
A
A
T
A
G
C
C
T
T
12900
M S G E V R F S S H L P Q P N S L 264
T
G
T
A
G
GTAAG TATATTTTAG TTAAGGAAGT TTGCCTCAGT TTCTCCAGAG
12950
C S 266
TTGTAAAGGA GCAGGAGAGT AGTTGTCTGT TTCAAGTT
G
C
A
T
T
A
T
C
C
A
G
T
13000 |
REPEAT
A
G
A
A
C
T
T
T
C
T
G
T
G
A
T
G
A
T
G
T
A
G
A
A
A
C
C
T
T
C
T
A
T
A
T
T
T
C
T
G
T
T
G
G
C
C
A
C
A
T
13050 |
var(13009):[T:0.11]
G
A
G
G
T
T
A
T
T
G
A
C
T
A
C
T
T
G
A
C
A
T
G
T
A
G
C
T
A
G
T
T
T
G
G
C
T
A
G
A
G
A
A
C
G
A
A
T
T
T
13100
T
G
A
A
T
A
A
A
T
A
G
T
A
A
A
T
A
T
A
A
A
T
A
G
C
C
A
C
T
T
G
G
G
A
C
T
A
G
T
G
G
C
T
A
C
C
A
T
T
T
13150
T
G
G
A
C
A
G
C
A
C
A
G
GTCTGGTG GAAACAAG
A
A CTGCCATTTA ACTGTTTGAC
13200 |
var(13179):[G:0.03]
ATATGTCCTA AGAAGGCTCT TAGGATAATG AAGTAAATGG GTTATTTGCA
13250
GAATGGATTT GGACTCATCC GTCAGAGTTG TCAGTAACTA ACATATGTGG
13300
AGTTTTGAGT AGTTTTTGAT GGAAAAAAGT TTGTCCCCTG TCATTTCATG
13350
AATTTGAAAG TAATTTATGA AATGGTACAG ACAAGTGATG TGGGAAAGAA
13400
AATGGACAAC CTGCAAAATT ACCTTTCTAA CAGTATAAAG GGAAATTGGA
13450
ACATAATGAT TTGATTTTCA CCCTATTTTG TATGTTTTCT AG
T
T
T
A
A
T
A
G
13500 | Exon 9 |
var(13497):[G:0.35]
L I 268
T
A
G
A
A
C
C
C
A
T
G
G
A
A
A
A
C
T
G
G
C
T
A
C
A
G
T
T
G
A
T
G
T
T
G
A
A
T
T
G
G
G
A
C
C
C
T
C
A
G
13550
V E P M E N W L Q L M L N W D P Q 285
C
A
G
A
G
A
G
G
A
G
G
A
C
C
T
G
T
T
G
A
C
C
T
T
A
C
T
T
T
G
A
A
G
C
A
G
C
C
A
A
G
A
T
G
T
T
T
T
G
T
13600
Q R G G P V D L T L K Q P R C F V 302
A
T
T
A
A
T
G
G
A
T
C
A
C
A
T
T
T
T
G
A
A
T
T
T
G
A
A
G
GT TAGTCTTAAT GGGTCTACTG
13650
L M D H I L N L K 311
CATAAGACCA GCATTGAAAG TAACAAGTTT ATTTGGAAAA TTAGCATAAA
13700
TACAGTTTAA TAATCTTTTC CTGTTGCTTA
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
G
A
G
A
13750 |
REPEAT
C
A
G
G
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
T
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
T
T
T
T
T
G
G
C
13800
T
C
A
C
T
G
C
A
A
C
C
T
G
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
T
T
G
C
C
T
C
A
G
C
C
T
13850
C
C
C
G
A
G
T
A
G
T
T
G
G
G
A
C
T
A
A
A
G
G
T
G
T
G
C
A
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
13900
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
G
T
A
G
G
G
T
T
T
C
G
C
T
A
T
G
T
T
G
T
C
C
A
G
G
C
T
G
G
T
C
T
C
G
C
13950
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
C
A
C
C
T
C
C
C
A
A
A
G
T
G
G
G
A
T
T
A
14000
C
A
G
G
C
G
T
G
A
G
C
C
A
T
T
G
C
G
T
C
C
A
G
C
C
CTGAT GCTTATTTGA AAAAGAAAAT
14050 |
var(14018):[A:0.07]
TATATTCTTA GAGCTGATTT TTTAAAAAGT TTATTTAGCA AGCTGTCTCA
14100
GTTTGCTTCT CTGTGGTCTT TGTTAATTAC TCCTTTGAAG CAACTTTTTT
14150
ATTTACCTTT TCCCATGTTG TTGCCATTAT CCTCGATTCA TTTATGTCTA
14200
GTCATACTGG ATTTGATTTG GTAAGGAAGG TTCCTATCTG CCTTTCATGG
14250
CTCTGCACTT ACTCCTTAAC CTATAGTTCA TTCAATATGT ACTACCTATC
14300
TCATCTTCTG AAAATGCTTT TTTATTCTTC TGCCCAAGAA ACTAACATAG
14350
TTCTTTTTTT TTTTTTTTTT AACAAGTCAA GTGTAAACTG ATCTGCTTGG
14400
TTTTTTGGGG GGGCTTTCCC TAACCAAGTT TTGCCTTGTA CCTGCTTCTC
14450
TTAACCTTTA CCTCATACAA GACCAGCTTG T
C
A
C
T
G
C
T
C
C
T
T
A
T
G
C
C
T
C
A
14500 |
REPEAT
A
A
C
C
C
G
T
T
A
T
C
T
A
C
C
T
T
T
G
T
G
C
T
T
T
G
A
C
A
G
A
T
G
C
T
A
T
C
C
T
T
C
T
G
C
C
T
G
G
T
14550
A
T
G
ATATCCA TTTCTGTGTA TCTTCTCACC TACACTGGCA TATCTTTAAG
14600
AGCTTTTCTT TAAATGGTCT CTGCCACAAA ATTT
G
TCATT TAAAGGCTAT
14650 |
var(14635):[A:0.03]
ATTCTCTTTC TCGTCTTCCA TTCATGCATC TTCATATAGA CTGTTGTCTT
14700
CTTCAATGTT GGGATTGTTT TACTTCTTTT ATTAACAATC ACCCACCCTA
14750
CCCTTCCTAA CCATGGCATT CT
G
T
A
C
A
G
A
G
C
A
G
G
G
C
A
T
G
T
A
T
C
A
G
G
T
T
C
T
14800 |
REPEAT
T
A
G
T
A
A
A
T
T
A
T
T
T
A
T
T
G
A
T
A
T
G
A
A
T
G
A
GAG CTATAGATAG TTCTATTATG
14850
CAGTGTACCC AGAAACAACT CTCATCAATA GT
C
TTTACAT TTGTATTGAT
14900 |
var(14883):[G:0.29]
TGTTTGTAGT ATACAGGTTT CTAAAATTGA AATGAGAAAT TATAATCATG
14950
TAAT
G
T
T
G
G
A
G
T
A
C
A
T
G
G
C
G
A
G
A
T
A
G
C
T
C
A
C
T
T
T
A
G
T
C
T
G
C
A
A
C
C
C
C
T
G
A
15000 |
REPEAT
|
var(14972):[A:0.01]
G
C
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
A
G
A
G
T
A
A
A
T
G
G
G
A
C
T
A
C
A
G
G
T
15050
G
T
G
C
G
C
C
A
C
C
T
C
T
C
C
T
G
C
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
T
T
G
G
T
A
G
A
A
A
T
G
G
G
G
T
C
15100
T
C
A
C
T
G
T
G
T
T
G
A
G
C
A
G
G
T
T
G
G
T
T
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
T
A
A
T
C
C
T
C
15150
C
T
A
C
C
T
C
G
A
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
A
C
A
G
A
T
G
T
G
G
G
C
T
A
C
T
G
T
G
C
C
15200
C
G
A
C
C
TTGGC ATACTTTATT AAATAGAAAC TTGAGGCC
A
T GTGGATGTCA
15250 |
var(15239):[G:0.01]
TTCTTGGCTA ACACTGAAAA GATACCTGGC TTCTTCTTGA TTTGGTTTCC
15300
TTCTAATGTG CCAAAGAATA AATTATCCCT CAGTGTGTTA GGAAAGCAGG
15350
GCTTTAGTTC TGTGTTGCCT CTGAAACATT TCAGCTGTGA ATGAACCACA
15400
TCTCGCATTT GTTTCATACT TGTCATAGGA ATCATAGCAT AGTTTCTGCT
15450
CTGAAGGGCA TCTGTGAGCC TCTTGTTATA GGGCACGGGG AAAGAGT
C
CA
15500 |
var(15498):[A:0.05]
CATTATGGAG TTTATAGTTT ACAGACTTTA ATTCAGTTTG CAGCACCACT
15550
ATTTACCTAT CTGTGAACCT GAGCAAATGT CTCTCTATCT CAAGGACAGT
15600
AATATCTTCC TCAAAGCATC AATATTATTA TGAGGTTATG CAGAATAAGG
15650
TATGTATAAG GTACTAGTTA TAGTAGTTCA AGAAGCTTCA AGGATGCTTG
15700
TTAGACATGA TAATAGGACT GAATTTTGAA GAATGAGAGT TTTTAGGGAA
15750
AGGGTGAGGG C
G
GGAGAGAT TTATAGGCAG CAGAGCATCA TGAGCAAAAG
15800 |
var(15762):[A:0.01]
TACAGAAGCA TGAACTGCAA AACAGCTTGG TGTTACTGTA GGACATTTTC
15850
CCAAAATGTT TATATATATT GTACAAGAAA GGAATGATGT CTGTTTGATT
15900
TTCACTTAAA AAAGGAAGCA ACAAAACAGT TACTGAAATA TTTCCCTTTT
15950
GAAAAAA
T
AG CTTAGCAAGT CTGATTGTAT GCATATTTTC CAA
C
TGTTTA
16000 |
var(15958):[C:0.12]
|
var(15994):[T:0.11]
TTATGAA
C
AT CTTTAGATAT GTAGAAGAGT TGAAAGAAGT GTACTGAACC
16050 |
var(16008):[T:0.07]
TACCACTAAA AATAATGATG AAACAGTAGC ATTTAATTAT TATTTTTTTT
16100
TG
C
C
T
C
C
T
C
T
T
T
C
A
C
G
C
C
C
C
T
A
A
A
T
G
T
A
A
C
T
A
T
A
T
T
C
T
G
A
G
T
C
T
C
T
T
C
T
T
16150 |
REPEAT
G
G
T
T
C
T
C
T
C
T
T
T
T
T
C
C
A
T
T
A
C
A
T
T
T
C
C
T
T
T
C
T
T
T
T
A
T
T
A
G
G
C
A
G
C
C
T
C
T
T
16200
C
A
A
C
T
G
T
A
T
A
G
C
T
T
T
A
C
T
T
A
T
A
A
A
C
T
A
C
A
T
A
T
G
G
C
T
A
A
C
T
C
C
T
A
A
A
G
T
T
A
16250
T
T
T
A
T
C
T
C
T
G
T
A
G
C
T
G
T
G
A
C
T
C
T
T
C
T
G
C
C
A
A
G
G
A
C
T
T
A
T
A
A
C
T
G
C
T
G
T
A
T
16300
A
A
C
T
G
T
A
T
A
A
C
T
A
C
C
T
G
G
C
T
G
T
T
C
C
A
C
T
G
G
C
A
C
T
T
A
C
A
A
C
T
T
A
A
T
T
T
A
T
T
16350
A
A
A
A
A
C
T
G
A
A
C
A
T
A
T
T
T
G
T
T
C
T
A
T
C
C
A
T
T
A
A
A
T
C
T
A
C
T
T
C
T
T
T
T
T
T
T
T
T
T
16400 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
G
A
T
A
T
G
G
A
G
C
C
T
C
A
C
T
C
T
G
T
C
T
C
A
C
G
A
T
C
T
C
A
A
C
T
C
A
C
16450
T
G
C
A
A
C
C
T
A
C
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
G
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
16500
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
T
G
C
C
A
C
C
G
T
G
T
C
C
A
G
C
T
A
A
T
T
T
T
T
A
T
A
T
16550
T
T
T
T
G
G
T
A
G
A
A
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
T
G
A
C
A
C
C
16600
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
T
C
A
C
C
T
C
G
G
C
C
T
T
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
16650
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
C
A
C
C
T
G
G
C
C
C
A
T
T
A
A
A
T
C
T
A
C
C
T
C
T
A
T
A
G
A
T
T
T
C
C
16700 |
REPEAT
T
A
C
A
C
T
T
C
T
T
A
T
T
T
G
C
A
C
T
G
T
C
A
C
C
T
T
T
C
C
A
G
T
T
A
C
C
C
A
G
G
T
G
G
G
A
A
A
C
T
16750
T
T
G
G
A
T
G
T
G
T
T
G
A
C
T
C
T
T
C
C
T
T
T
C
T
C
T
T
C
A
A
T
C
G
A
T
A
T
A
T
C
C
A
A
T
TATTT
16800
TATCAAATTT ATCTTTTGAA TATCTTAACA ATTTTGAGCT TGCCAGGTTC
16850
TCAATTTAGA AAGGCTTGCA TAGTTTTCTT TCACTTATTG AATAAAGTCC
16900
AGACCCTTTC ATTGGTACTC AAAACCTATC TTGGTTTCAT ATCAACTTAC
16950
ACTCCTGGAC TTATCTCTTA CTAATGCC
C
T
GAGAGGCCAT CATTTTAGGT
17000 |
var(16979):[:0.02]
ACATTTGAAC TGGATTAATT GTATTCTCTG ATTATGCCCA TCCCTTTCTA
17050
CTTTTCTGCT TCTGCTCACC TTGTTTTCTG CCTAAAGGAA CTCTTTTCAG
17100
TCTTTTCCCA TTTCAGTCTT TCATTTCAAA GTTTAGCTCA AGTAGTGCCT
17150
CCTTTATGAA GTGCCTGCTT CCTACTGCCA AGTGTATGAT ACTTTACACT
17200
GATTATAACA CCTATCACAT TTTGCCTGGT ACCTTAGTTC TCTTAGTATA
17250
TCTTAATATC TTCTGTTTGA CTATAACTGT ATGGAAGGCA AGGATCATAA
17300
GGTACTCAGT TTGTATACCC ACTACTACCA CCACAACACA CTTAATAGTA
17350
TGTACCAATA GTATGTACCT ACCAATAGTA GGTACTCATT AAATATTATA
17400
GTGAGCAAAA AGATAAATTT AGGTTGTATT TCCTCTTCTT TCTTTTGCTT
17450
CCTTCTGGCC TGGAGCTTTG GTAGTGAGAT GCCATGATGA CATACTCTAA
17500
TATCCTGTGT AAAAGTAGAT GTCCATTATA GGATTTTCTA TTGCTATAAG
17550
TGGCAGCTGT CATAGTGTGA AATCTGCCTA AATTGGGAAG GCATGGAAAG
17600
TCTCAGGTAG TATAATTGTA TTGCAAATCC GTATCAGTTT TGAAGATTTC
17650
CCTACTCCCC TTTTAAACAT AAAGATTTAT ATTAAAGAAA AGTCTCTTAA
17700
TAAGAGAAAT ACTGGCAATT GTGTTATGAC ATTTGGAATT CACATGAAAA
17750
GGATCAGCTT CAGGTTATAA AAACAGTTTG GTATTTCTTT TTTAAAATTT
17800
TGTTGATA
C
A
G
G
T
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
G
G
A
G
17850 |
REPEAT
|
NOT SCANNED
G
T
G
G
A
G
G
C
A
G
G
C
A
G
A
T
C
A
C
T
T
G
A
G
G
T
C
T
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
17900
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
G
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
G
A
T
17950
G
G
T
G
G
T
G
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
A
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
A
G
A
G
18000
T
T
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
G
A
G
G
C
T
G
C
A
T
T
G
A
A
C
C
A
A
G
A
T
C
G
C
A
C
C
A
C
T
18050
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
A
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
C
A
A
A
C
A
A
A
18100
C
A
A
A
A
T
T
G
T
T
A
A
T
A
C
G
C
T
T
T
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
A
A
G
A
G
18150 |
REPEAT
T
C
T
T
G
T
T
C
T
A
T
C
A
C
C
C
A
G
G
C
T
A
G
A
G
T
A
C
C
A
T
G
G
T
G
C
A
A
T
C
T
C
C
A
C
T
C
A
C
T
18200
G
C
A
A
C
T
T
T
C
A
C
C
T
C
C
C
A
G
A
C
T
C
A
A
G
T
G
A
T
T
C
T
C
T
C
G
T
G
C
C
T
C
A
G
C
C
T
C
C
C
18250
G
C
G
T
A
G
T
T
G
G
A
A
T
T
A
C
A
G
G
T
G
T
G
C
G
C
C
A
T
C
A
T
G
G
C
C
A
A
C
T
A
A
T
T
T
T
T
T
G
T
18300
G
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
A
T
G
T
T
C
T
C
A
A
18350
A
C
T
C
C
T
G
T
C
C
T
C
A
A
G
T
G
A
T
C
T
A
C
C
T
G
T
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
G
G
C
T
G
G
G
A
18400
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
A
G
C
C
TA A
T
T
T
T
T
T
A
A
A
T
T
G
A
C
A
A
A
T
A
18450 |
REPEAT
A
T
T
A
T
A
C
A
A
A
T
T
A
A
T
G
G
G
G
T
A
A
A
T
A
G
T
G
A
T
G
T
T
T
C
A
A
T
A
C
A
T
G
C
A
C
T
G
T
G
18500 |
NOT SCANNED
T
A
G
T
G
A
T
C
A
G
A
T
T
A
G
G
G
T
A
A
T
T
A
G
C
A
T
A
T
C
C
A
T
C
A
G
C
T
A
A
A
A
C
A
T
A
A
T
T
T
18550
C
T
C
T
G
T
G
T
T
G
G
G
A
A
T
A
T
T
C
A
G
T
A
T
C
C
C
T
T
T
C
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
C
T
T
18600 |
REPEAT
T
T
T
C
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
A
A
G
T
C
T
C
A
C
T
C
T
G
T
C
G
C
C
18650
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
T
G
A
T
C
T
C
C
C
A
G
G
T
18700
T
C
A
G
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
T
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
18750
T
G
T
G
C
C
A
C
C
A
A
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
A
G
G
T
T
T
18800
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
T
A
A
G
T
G
A
T
C
T
A
C
T
18850
T
G
T
C
T
T
G
T
A
A
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
C
A
C
G
C
C
C
18900
A
G
C
C
TCAGTT TAGTATTTCT GTAGCACCAC TTATTTGGGC ATCTGTGTTA
18950
GGATTTGTAA GTGGAAATAA TAGTGGGCCT
T
C
A
A
A
C
T
A
A
A
A
A
G
T
G
T
A
C
A
G
19000 |
REPEAT
T
A
G
A
A
G
A
A
A
T
A
A
T
C
A
A
C
A
A
A
A
C
G
A
A
A
A
A
G
C
A
A
C
C
C
A
A
C
C
C
A
T
G
G
A
T
T
G
G
G
19050 |
var(19006):[A:0.38]
A
A
A
A
G
A
T
A
T
T
T
G
C
A
T
A
C
C
A
T
A
C
A
T
C
C
A
A
T
A
A
G
A
A
A
T
T
A
A
T
A
T
C
C
T
A
A
A
T
T
19100 |
var(19096):[G:0.04]
T
A
T
A
A
G
A
A
A
C
T
C
A
T
G
C
A
A
C
T
C
A
A
T
A
C
C
A
A
A
A
A
T
G
T
A
A
A
T
A
A
C
C
C
A
A
T
T
T
A
19150
A
A
A
A
T
G
T
G
C
A
A
A
G
G
A
C
C
T
G
A
A
T
T
A
G
A
C
A
C
T
T
C
T
C
A
A
A
A
G
A
A
G
A
A
A
T
T
C
A
G
19200
A
T
G
G
T
C
A
A
C
A
A
A
C
A
T
A
T
G
A
A
A
A
G
G
T
G
C
T
C
A
A
C
A
A
C
T
C
T
T
A
G
C
A
T
C
A
G
G
G
C
19250
G
A
T
G
C
A
A
A
T
C
A
A
A
A
C
C
A
C
A
C
T
A
A
G
A
T
A
T
C
A
C
C
C
C
C
C
A
C
C
T
G
T
T
G
G
G
A
T
G
G
19300
C
T
A
T
T
A
T
C
C
A
A
A
A
G
A
A
A
A
A
A
G
A
T
A
A
G
C
G
T
T
A
G
T
G
A
G
G
A
T
G
T
G
G
G
A
G
A
A
A
A
19350
G
A
A
A
T
C
C
C
T
T
G
T
A
C
A
C
T
G
T
T
G
G
T
G
G
G
A
A
T
G
T
A
A
A
T
T
A
T
T
A
C
A
G
C
T
A
T
T
G
T
19400
G
G
G
A
A
A
C
A
G
T
A
C
A
A
A
G
G
T
T
C
C
T
C
A
A
A
A
T
T
A
A
A
A
A
T
A
G
A
A
C
T
A
C
T
G
G
C
C
G
G
19450 |
REPEAT
G
C
A
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
G
G
A
G
G
T
T
G
A
G
A
C
A
G
G
19500
T
G
G
A
T
C
A
C
A
T
G
A
G
G
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
A
C
T
G
G
G
C
A
A
C
A
T
G
C
A
G
A
A
19550
A
C
C
C
C
A
T
C
T
C
A
A
C
T
A
A
A
A
T
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
C
A
19600 |
NOT SCANNED
T
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
C
G
T
A
G
G
C
T
G
A
G
G
C
A
G
G
A
T
A
A
T
T
G
C
T
T
G
A
A
T
T
19650
C
A
G
G
A
G
G
T
G
G
A
A
G
T
T
G
T
A
G
T
G
A
G
C
T
G
A
G
A
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
A
T
C
A
G
19700
C
C
T
G
C
G
T
G
A
C
A
C
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
G
19750 |
REPEAT
A
A
C
T
G
T
A
A
G
A
T
T
C
A
A
C
A
A
T
G
T
C
A
T
T
T
C
T
T
G
G
T
A
T
A
T
A
T
C
C
A
A
A
G
G
A
T
T
T
T
19800
A
A
A
G
C
A
G
G
C
T
T
G
T
G
A
A
G
A
G
A
T
A
T
T
T
G
C
A
C
T
C
C
C
A
T
G
T
T
C
A
T
T
G
C
A
G
C
A
T
T
19850
A
T
T
C
A
C
A
A
T
A
G
T
C
A
A
G
A
T
C
T
G
G
A
A
A
T
A
G
C
C
T
A
A
A
T
G
T
C
C
T
T
T
G
A
C
A
G
A
T
G
19900
A
A
T
G
G
A
T
A
G
G
G
A
A
A
A
A
G
T
G
G
T
A
T
A
T
A
T
A
C
A
C
A
G
T
G
G
A
A
T
A
G
T
A
T
T
C
A
A
C
C
19950 |
var(19912):[G:0.02]
T
T
A
A
G
A
A
A
A
A
G
A
A
G
G
A
A
A
T
T
C
T
G
C
C
A
T
T
T
A
G
G
A
C
A
A
T
G
T
G
G
A
T
G
A
A
C
C
T
G
20000 |
var(19992):[G:0.01]
G
A
G
G
A
C
A
T
G
T
T
A
A
G
T
A
A
A
A
T
A
A
G
C
A
A
G
T
C
A
C
A
G
A
A
A
G
A
G
A
A
A
T
A
C
T
G
C
G
T
20050
G
A
T
C
T
C
A
C
T
T
A
C
A
T
G
T
G
G
A
A
T
C
T
A
T
A
A
T
A
G
T
T
A
A
A
T
T
T
A
A
T
A
G
A
A
G
C
A
G
A
20100
C
C
A
T
A
G
C
A
T
C
A
T
A
G
T
T
G
C
C
A
G
G
G
G
C
T
G
C
A
G
G
G
A
T
G
C
G
G
G
T
G
C
G
G
G
G
G
T
G
T
20150
A
T
G
T
A
G
A
G
A
T
G
T
T
T
A
T
C
A
A
A
A
G
G
T
C
C
A
A
A
A ATTACGGCAG CAAAAGAAAA
20200
AAAAGGTAC
A
A
A
A
A
T
G
A
C
A
A
C
T
A
T
G
A
A
G
A
G
G
T
G
A
C
A
G
A
T
A
T
A
T
T
A
A
T
T
A
G
20250 |
REPEAT
C
T
G
A
A
A
T
G
T
G
A
T
A
A
T
T
T
C
A
C
A
A
C
G
T
A
T
A
T
C
A
A
A
A
C
A
T
C
A
A
G
T
T
G
T
A
T
A
A
C
20300
T
C
A
A
A
T
A
T
A
T
A
A
C
A
T
T
T
T
T
A
T
A
T
G
T
C
A
A
AT TAAATTGTCA CAAAATAAAA
20350
TATGTAAAAG ATAAAGC
A
A
T
A
A
A
T
C
A
G
G
A
G
A
G
G
G
G
G
C
T
A
T
G
A
T
A
G
A
T
G
A
A
20400 |
REPEAT
|
var(20381):[:0.11]
|
var(20387):[T:0.37]
A
C
A
A
G
A
T
A
G
G
C
T
C
T
A
T
G
T
A
A
A
T
G
A
T
G
G
T
T
G
A
A
A
C
T
A
G
G
T
G
A
G
G
C
A
T
T
C
A
C
20450
A
G
G
G
T
T
G
G
G
A
G
G
G
G
G
C
T
T
A
T
T
G
T
A
C
T
G
T
T
G
T
C
T
A
T
A
G
T
T
T
T
G
T
G
T
C
T
T
T
G
20500 |
var(20454):[C:0.01]
A
A
A
ACATCAA TTCAGATTTG TGTTTTAAAG GGAAAAAAAT AATAGTGGAC
20550
TTGGATTAAT GC
C
TTACCTT TGTAGTAAGG ATTTTCAGCA GAGAGAATTT
20600 |
var(20563):[T:0.12]
TAATCATTTG CATATACTAG TCAATGTAAG GCATGGAGAA TGTAGGCATT
20650
AATTTCGTAT GGCTTTTCTA AGGATACTGG AAGGAAGAGA ATTTAAAATC
20700
ATGTTCTTTT CAAAAGACTG AAGTCCAACT CTGTGGCTGT CCGCGCTGAC
20750
AGGTGGGGAC AGAGCCCCAC CTGACTCAGC CTCACACTCA CTTGGCATGT
20800
ATCAGGCTAC TTTTACTGGG GCTTTAGGTG AGAGTGATAA AACGGTTCTT
20850
ACTTGATTTG GGGCCCTTAA GCAGGTTGCT GCTCTGGGAT TAGGTTGTCT
20900
TATAAAAAGG TAACTCACCA CGCATAACAA TGCTTTTTCC TGTTTAAAGA
20950
GAGACCTAGT TCTTCTATCA GATGATTTC
T
T
A
A
G
G
C
A
G
C
A
T
G
A
A
G
T
A
G
C
C
21000 |
REPEAT
A
G
A
C
A
C
A
A
A
A
A
G
A
G
T
T
A
A
G
A
T
C
C
A
A
G
C
T
C
T
A
C
C
A
G
T
T
A
T
T
A
G
C
T
G
T
G
T
G
A
21050
T
C
C
C
T
A
A
C
A
A
G
T
T
A
T
T
T
A
A
C
T
T
A
G
A
A
C
T
C
T
G
G
T
T
T
C
T
T
T
C
T
C
T
G
T
T
T
A
A
A
21100
A
T
G
G
A
G
A
T
T
A
A
A
A
G
A
T
C
T
A
A
T
T
A
T
T
G
G
G
G
A
T
G
T
T
A
T
G
T
G
A
A
AGTGGTTTA
21150
TGCCTGTGGT TGTCTTCTGT TAGGCACTTC ATGAATTGGA ATGTTTCCTT
21200
TTCGGTCTAT GATAATGTTT TTTTCAAAAT AAATAACTTA
G
G
C
C
G
G
G
C
G
C
21250 |
REPEAT
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
C
G
A
G
G
C
G
G
G
C
G
G
A
21300
T
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
C
G
G
C
T
A
A
A
A
C
G
G
T
G
A
A
A
C
C
C
C
G
21350 |
var(21350):[A:0.05]
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
A
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
21400
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
G
G
G
A
21450
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
C
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
21500
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
21550
A
T
A
A
A
T
A
A
A
T
A
A
CTTGTTCT TT
C
AAATTGG GATTTTTCTT AATTTTGAAA
21600 |
var(21573):[T:0.08]
ATTTCTTAAC TTTGAAATTT TATTGTTGGA ACTAACATCT ATTGTAGAAA
21650
AGGAAATTGT TCAGTTTTCA GAATGTCATT TTATAATTAT AAAAGGAGAT
21700
CTCACTTTGG
A
GAATGAGTG AGCCTTGTTT AAT
G
TAGAAA TAATGCCTTT
21750 |
var(21711):[G:0.01]
|
var(21734):[T:0.11]
TGCCCATATT CACCTTTTAG TATCTGGCAG CGAATCTTTT ATGTAACAAA
21800
TAATCAATAA CTTTACCTTT TTTTCTTATT TATACAG
A
T
A
G
T
A
C
A
C
A
T
C
C
21850 | Exon 10
I V H I 315
T
A
A
A
T
A
T
G
A
C
T
T
C
T
G
C
A
A
A
G
A
T
A
A
T
T
T
C
T
T
T
T
C
T
G
T
T
A
C
C
A
C
C
T
G
A
T
G
A
A
21900
L N M T S A K I I S F L L P P D E 332
A
G
T
C
T
T
C
A
T
T
C
A
C
T
A
C
A
G
T
C
T
C
G
T
A
T
T
G
A
G
C
G
T
G
A
A
A
C
T
G
G
A
A
T
A
A
A
T
A
C
21950
S L H S L Q S R I E R E T G I N T 349
T
G
G
T
T
C
T
C
A
A
G
A
A
C
T
T
C
T
T
T
C
A
G
A
G
A
C
A
G
G
A
A
T
T
T
C
T
C
T
G
G
A
T
C
C
T
C
G
G
A
22000
G S Q E L L S E T G I S L D P R 365
A
A
C
C
A
G
C
C
T
C
T
C
A
A
T
G
T
G
T
T
C
T
A
G
A
T
G
G
A
G
T
T
GTAAGAAA ATTAATTATA
22050
K P A S Q C V L D G V 376
ATATCCCTAG AGTATGTGAA ATCTAGAGGG ATTGCGTGCC CTGCAATTTT
22100
TATGCATACT TGGAATTCCT TGGGAGGCCG CACATTTTGT TTTGGTTTTG
22150
TCCTTCTCCC AACTCTTATC ATTGCTTTGC AAGGTGAACA GGATAGAAAT
22200
GAAACATTTG TTGTTTTGAA CTTTGCAAGA CTTTTTCTTT GGTGCCAGTT
22250
TTCTGCTCC
T
G
T
T
C
C
C
A
G
A
C
C
A
A
A
C
T
G
A
G
G
G
T
C
A
G
G
C
T
G
C
T
T
A
C
T
C
T
C
G
C
22300 |
REPEAT
G
G
C
C
C
A
A
T
A
A
C
G
A
G
A
T
G
C
A
G
A
T
G
A
A
T
T
G
G
G
A
G
A
G
A
T
G
G
G
A
G
T
T
T
T
T
A
T
T
T
22350
C
T
G
T
A
A
C
C
A
G
T
T
A
C
A
G
G
T
A
G
A
A
G
G
C
C
T
G
G
A
A
A
T
T
A
C
C
G
C
C
A
G
A
C
C
A
A
C
T
C
22400 |
var(22391):[G:0.01]
|
var(22395):[T:0.03]
A
A
A
A
T
T
A
C
A
A
A
G
T
T
T
T
T
C
C
G
T
A
G
T
T
T
A
T
T
T
A
T
C
T
T
C
T
A
A
G
C
T
A
T
A
T
G
T
C
T
22450 |
var(22427):[G:0.06]
A
T
G
T
G
T
A
A
G
T
T
T
G
C
A
T
T
C
A
T
C
T
A
A
A
G
A
C
A
T
A
A
G
T
G
A
T
T
A
A
C
T
T
C
T
T
T
T
A
A
22500
T
C
T
G
T
A
G
C
T
G
A
G
G
T
C
T
G
A
G
T
C
T
T
G
A
A
G
A
C
A
T
T
C
C
T
C
T
G
G
A
G
C
C
T
C
A
G
T
A
A
22550 |
NOT SCANNED
A
T
T
T
A
C
T
T
A
C
T
C
T
A
A
A
T
G
G
G
T
C
C
A
G
G
T
G
C
T
G
G
G
G
T
G
A
T
T
A
C
C
C
T
T
A
T
C
T
T
22600
G
T
C
T
C
C
T
A
T
T
A
A
A
T
C
A
C
A
G
A
G
G
T
T
T
A
A
G
G
A
G
T
T
C
C
T
T
C
A
G
A
C
C
C
C
C
A
A
T
A
22650
A
A
C
T
T
G
T
T
T
G
T
G
G
A
G
G
C
C
T
G
G
G
G
T
T
T
C
T
T
C
A
G
A
C
C
C
C
C
A
A
T
A
A
A
A
C
T
T
A
T
22700
T
T
A
A
T
T
C
T
G
A
A
C
G
G
G
T
C
C
T
G
T
T
A
A
G
A
A
T
T
C
C
T
T
T
G
T
T
A
T
T
T
T
G
C
T
T
T
T
A
G
22750
G
C
C
T
G
G
G
A
A
A
G
G
C
C
T
G
G
G
C
A
G
A
A
C
T
C
T
T
G
G
T
A
G
G
C
T
T
T
G
G
C
T
A
C
A
T
T
T
C
A
22800
G
C
C
T
T
T
G
T
G
T
A
A
G
G
G
C
A
C
T
G
G
C
T
C
T
T
C
C
A
G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
G
A
C
A
G
22850 |
REPEAT
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
A
A
G
T
G
C
A
A
T
G
G
C
A
C
A
A
T
C
T
C
A
G
C
T
C
A
C
T
22900
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
C
T
G
C
C
A
C
A
G
C
C
T
C
C
C
A
22950
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
T
G
C
C
C
A
C
C
A
C
C
A
T
G
C
C
T
A
G
C
T
A
A