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
T
T
T
T
T
T
G
T
A
23000 |
var(22981):[C:0.01]
|
var(22985):[G:0.01]
T
C
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
T
G
C
C
A
C
T
C
C
T
G
A
C
C
G
A
C
C
T
C
A
G
G
C
G
A
T
C
T
23050 |
var(23010):[C:0.02]
G
C
C
T
A
C
C
T
C
G
G
C
C
T
C
C
T
G
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
A
23100
C
C
C
G
G
C
C
A
C
T
C
T
T
T
C
A
G
C
T
T
T
T
A
A
T
A
T
T
T
A
A
C
T
T
C
A
C
C
A
C
T
C
A
G
T
C
G
T
G
C
23150 |
REPEAT
|
var(23146):[T:0.01]
|
var(23147):[A:0.01]
T
G
A
A
A
C
A
G
T
T
G
T
T
A
T
T
T
A
G
G
C
C
T
G
C
A
T
T
A
G
T
G
A
G
A
C
C
T
G
G
C
C
T
G
C
C
A
C
A
C
23200
TCCCAGTTAA TATTCCTTCT T
G
G
C
T
T
G
G
T
G
C
A
G
T
G
G
C
C
C
A
T
G
C
C
T
G
T
A
A
T
23250 |
REPEAT
C
C
C
G
G
G
A
C
T
T
T
G
G
G
A
A
C
C
C
A
A
G
G
T
G
G
G
T
G
G
A
T
T
G
C
T
G
A
G
T
T
C
A
A
G
A
G
T
T
C
23300
G
A
G
A
C
C
T
G
C
C
T
G
A
G
C
A
A
C
A
T
G
T
T
G
A
A
G
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
C
T
A
C
A
A
23350
A
A
A
T
T
A
G
C
G
G
G
G
T
T
T
G
G
T
G
G
T
G
C
A
C
C
C
C
T
G
T
A
G
T
C
C
T
A
G
C
T
A
C
T
T
G
G
G
A
G
23400
A
T
T
G
A
G
G
T
G
G
G
A
G
A
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
G
A
G
G
T
T
G
A
G
G
C
T
G
C
A
A
T
G
A
G
23450
C
C
A
T
G
A
T
C
A
C
G
C
C
G
C
T
G
C
A
C
T
C
C
A
G
C
A
T
G
G
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
C
C
T
G
T
23500 |
var(23463):[G:0.04]
C
T
C
A
A
A
A
A
A
A
A
A
A
A
TTTCTT TTTGTATTTG AAGCCCAGTA CTCTGAAACT
23550
ACTGTGAGAA CAGCAGTCTC ATAGGTCCTG CCAAAGGATA AATGGGTGGT
23600
AAAATATGAC TGTGGTCATG ACTTTTTCCC CCATTTTTCT TTTTATGACT
23650
TTATTGAGGC ATATTATCAT GTTAGTTCCC ATTTAAGGTG TACAATATAG
23700
TGATTTTTTA TTTCTTTTTT ATTAACTTGT CACTGACTTG ATGCTCAATT
23750
ACAGTGA
T
TT TTTTTTAAAG TAAATTTACC AAATTTTGCA GCTGTCACCA
23800 |
var(23758):[:0.01]
TAAATCAGCT TAAAAACATT TCCATTAACA GT
C
C
A
T
T
A
A
C
T
G
T
T
A
A
T
C
T
C
23850 |
REPEAT
C
A
T
T
C
T
G
T
C
C
A
C
C
C
C
A
G
G
A
A
A
C
C
A
G
G
A
A
T
C
T
A
T
T
T
T
T
T
A
A
T
C
T
C
C
A
C
A
A
G
23900 |
var(23889):[:0.98]
T
T
T
G
C
C
T
T
T
T
C
T
G
A
A
C
A
T
T
C
C
A
T
A
T
A
A
A
T
G
G
A
A
T
T
A
T
G
T
A
A
T
A
T
A
T
A
G
T
C
23950
T
T
G
T
G
T
C
T
G
A
C
T
T
T
T
T
T
T
A
C
T
T
G
C
C
T
T
G
T
A
T
T
T
T
T
G
A
A
G
C
C
C
G
T
G
C
A
T
G
T
24000 |
var(23975):[T:0.28]
|
var(23992):[T:0.11]
T
G
T
A
G
C
A
T
G
T
A
T
C
A
G
T
A
C
T
T
C
A
T
T
C
G
T
T
T
T
G
A
T
T
A
C
C
G
A
T
T
A
G
T
T
T
T
T
T
C
24050
A
C
T
G
T
A
T
ATA TCTTTTTGCA TTTGTTCTTT GGGTTTTGGT GATTGTTCAC
24100
TTTAGCCCAT ACAAAAGTTT GGGTCTTTTT TCCTCAACAA AAGTTTGGAC
24150
TCTGTTATCT GTAAGAGATA TG
C
TAATACA CATTGATTTT GTTCATTTGC
24200 |
var(24173):[G:0.32]
ATTTCAAAGT AGGAAATCTG GTGCATAAGT ATTTAGAAAA CCTAGGATTT
24250
TCAAAGATCC TTGAACAGGA TTTTAACTGT TTGTTTCTTT TTCAG
A
G
A
G
G
24300 | Exon 11
R G 378
C
T
G
T
G
A
T
A
G
C
T
A
T
A
T
G
G
T
T
T
A
T
T
T
G
T
T
T
G
A
T
A
A
A
A
G
T
A
A
A
A
C
T
G
T
A
T
A
T
G
24350
C D S Y M V Y L F D K S K T V Y 394
A
A
G
G
G
C
C
A
T
T
T
G
C
T
T
C
C
A
G
A
A
G
T
T
T
A
T
C
T
G
A
T
T
G
T
G
T
A
A
A
T
T
A
T
A
T
T
G
GT
24400
E G P F A S R S L S D C V N Y I 410
AAGTCCAGTC CATTTAGTGG CTGAGCTTTA AACATGAATT AATATAACTT
24450
TGACTCTCAG TATGATTAGT AGAAATGGAC TTTTGGTGTT GTGTTCTGTA
24500
TCTCATACTT GAAGTTTCTA TATGGAGTTA TATGAGAACT CTGAAAAATG
24550
GATTTATATA
G
TTTGGAAGG TGAAAAGGTA GATATTAAAT CTCCATGAGA
24600 |
var(24561):[A:0.07]
TCATTCAAGA GAAGA
T
TTAC TTTCTTGAGG ATAGGGCTCT CACAGGAGAA
24650 |
var(24616):[:0.11]
TGAAACTTCA CTATTAGTTG AACCTGCTTT TTAATTGTCT CTTCATAGTC
24700
TAAGCATGTT CAAGTATTTA TTTCATTTTT CCTGTGAATA CTGCTTGATG
24750
TTCAAATGTT TTAATTTATC CTGTGAAAAT TATTCTTTTC TTTTGAACAA
24800
GTTAAGTGTT TGATCACTGT ATATCTGTCC AAATAAAGTA AAGCACAAAA
24850
TTGTAAAATC AAGAACAAAA TTGAGCAGAG GGGCTAAAAT GTAT
G
TAATC
24900 |
var(24895):[A:0.04]
TTACTTTTTT AAAAGTCTTT TTATTAGTTT TCTTTTGAAT TT
T
T
C
T
T
T
T
A
24950 |
REPEAT
A
A
T
T
G
A
G
G
C
A
G
T
T
T
A
C
A
T
A
G
A
G
T
G
A
A
A
T
T
C
A
C
A
G
A
T
C
A
T
A
T
A
G
T
T
T
G
A
T
A
25000
A
C
T
T
T
T
G
A
C
A
A
A
T
T
T
A
G
A
T
A
C
T
T
G
T
G
T
A
A
T
C
C
A
C
A
C
C
A
C
A
G
T
C
A
T
C
A
T
G
T
25050
A
G
A
A
C
A
T
T
T
C
T
T
T
C
A
C
C
T
T
A
G
A
A
A
G
T
T
C
C
C
T
C
A
T
G
T
C
T
C
T
T
T
T
C
A
G
T
C
A
A
25100
C
T
C
C
C
C
T
T
G
C
C
C
C
A
G
A
CTTT ATTACTATTT TAC
T
A
A
T
G
G
A
C
T
T
T
T
T
T
T
T
T
25150 |
REPEAT
T
T
A
A
G
A
A
T
G
G
T
T
T
T
A
G
A
T
T
T
G
C
C
A
A
A
A
A
A
T
T
G
G
G
C
A
G
A
T
A
G
T
A
C
A
G
A
G
T
T
25200
C
T
C
A
T
A
T
A
A
C
T
C
C
C
C
T
C
A
C
T
C
A
C
G
C
A
T
G
T
A
G
T
T
T
T
T
C
C
T
A
T
T
G
T
T
A
A
C
A
T
25250
T
T
T
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
T
G
T
C
A
C
A
C
C
A
C
T
G
C
A
C
T
25300 |
REPEAT
T
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
C
T
T
T
C
T
C
A
A
A
A
A
A
A
T
A
A
A
T
A
A
A
A
A
A
C
25350
A
T
A
A
A
A
TATT TAAAAATATT AAAAAGTAAA AAAAAATCT
A
T
T
T
T
A
C
A
T
T
A
25400 |
REPEAT
G
T
A
T
G
A
T
G
T
A
T
T
T
G
T
T
A
C
A
T
T
T
A
A
T
G
A
A
C
C
C
A
T
T
T
A
T
T
A
T
T
A
A
T
T
G
A
A
G
C
25450 |
var(25424):[G:0.01]
|
var(25434):[A:0.11]
C
C
A
T
A
C
T
T
T
A
T
T
C
A
C
A
T
T
T
C
C
T
T
C
A
T
T
T
T
T
A
C
C
T
A
A
T
A
T
C
C
T
T
T
T
T
C
T
G
T
25500
T
C
T
A
A
G
A
T
C
T
C
A
T
C
T
T
A
G
A
A
C
A
C
A
T
T
A
C
A
T
T
T
G
G
T
T
G
T
C
A
T
G
T
C
T
C
T
T
T
A
25550
G
C
T
C
C
T
C
T
T
T
G
C
T
G
T
G
A
C
A
T
T
T
T
G
T
C
A
G
A
C
T
T
C
A
A
A
T
A
G
T
C
C
T
T
G
T
T
T
T
T
25600
G
A
T
G
A
C
C
T
T
G
A
C
A
A
T
G
A
C
C
T
G
A
G
G
A
A
T
A
C
T
A
G
T
C
A
A
G
T
A
T
T
T
T
G
T
A
A
G
A
T
25650
G
T
C
C
C
T
C
T
G
C
T
G
A
A
A
T
T
T
G
T
C
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
G
25700 |
REPEAT
A
G
A
T
G
G
A
G
T
T
T
C
A
C
T
C
T
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
A
C
A
A
T
C
T
25750 |
var(25720):[C:0.02]
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
C
C
C
A
C
C
T
C
C
C
G
G
G
T
A
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
T
C
T
C
A
25800 |
var(25785):[T:0.03]
G
T
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
T
G
C
A
C
A
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
25850 |
var(25827):[C:0.34]
T
T
T
T
G
C
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
C
T
C
25900
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
G
G
A
T
C
T
G
C
C
C
G
C
C
T
T
G
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
25950
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
T
C
A
C
A
C
C
T
G
G
C
T
CTTGTGTG TATTCTTAAA
26000
CCTGGATTGT TGGTCCAGAA TATGAAATTT ATTATTCAGA GGTAGGAAAG
26050
ACTCAGAGGA GATGGGACTT GATTTAGAAC TTGAAAGAAA TAATTTGGAT
26100
TAGCAGAGAG AAAAAGAGTA TTCCAGGTTG CAGAAAAGCA AGCAAAAAAG
26150
ACAGATACAG GAATAATCTC A
A
G
C
T
C
T
G
T
G
A
G
T
G
T
A
G
C
G
A
T
T
G
T
G
T
C
A
T
T
26200 |
REPEAT
T
T
T
A
T
T
T
C
C
C
C
C
C
T
T
G
T
A
T
G
T
G
G
A
G
C
G
G
G
G
C
T
T
A
A
G
T
A
T
T
G
C
A
G
G
T
G
C
T
C
26250 |
var(26227):[A:0.02]
T
G
T
A
A
A
T
G
T
A
T
A
T
T
G
A
A
C
T
G
A
A
T
T
A
A
ATGG AAACAAGTGG TTCTTTTAGC
26300
ATCAGTTTCT AGCATCTATG GGAATCCTGT TTGTGTGGAC AGGAAATCAC
26350
AAAGAATGAT AAATCAACTC TAAAATCCTC AAAAGTAACT AACCTCCCTT
26400
GCCCTTTTTC TCATCTTCTT GTATATAG
T
A
C
A
G
G
A
C
A
G
C
A
A
A
A
T
A
C
A
G
C
T
26450 | Exon 12
V Q D S K I Q L 418
T
C
C
A
A
T
T
A
T
A
C
A
G
C
T
G
C
G
T
A
A
A
G
T
G
T
G
G
G
C
T
G
A
A
G
C
A
G
T
G
C
A
C
T
A
T
G
T
G
T
26500
P I I Q L R K V W A E A V H Y V 434
C
T
G
G
A
C
T
A
A
A
A
G
A
A
G
A
C
T
A
T
A
G
C
A
G
G
C
T
C
T
T
T
C
A
G
G
G
A
C
A
A
A
G
G
G
C
A
G
C
A
26550
S G L K E D Y S R L F Q G Q R A A 451
A
T
GTAAGTGG ATTCTGTTGT TTATAAGCAC AATGCAATGT GCATCATATA
26600
M 452
CTCAAGAATT AATCTTGCCG GTTTTCACTA A
T
CAATATTG CATGTAATAG
26650 |
var(26632):[:0.01]
TAACATACTG GGCCAATTTG AAGTGTAATG TTCTGATAAA CTTGTAGAAT
26700
TCTTACTAAT GGACTGAGAC CATTCTATTG TAATGGCTTG AGGGTAATAA
26750
TTCCCATACG GTCCTAGTAT AAAAAGATTG TTTATCACAA AATATTATAG
26800
GCAGGAAGTC TTTAGAGATC AGATTCTAGA GCTCAGTTAT TTCTCATA
G
A
26850 |
var(26849):[T:0.01]
TTGATAATAG AAACTTAGGC TTTGGCCTTG TGGCAGTTTA TGTTTTTACA
26900
TTA
T
T
G
TTCA ATGTTTCTGA ATGCTGATAA TATCTTTTTT CTTTTTCTTT
26950 |
var(26904):[:0.01]
TTTTTCTTGC TGTGGTTTAG
G
T
T
A
A
G
T
C
T
T
C
T
T
A
G
A
T
A
T
A
A
T
G
C
T
A
A
C
T
T
27000 | Exon 13
L S L L R Y N A N L 462
A
A
C
A
A
A
A
A
T
G
A
A
G
A
A
C
A
C
T
T
T
G
A
T
C
T
C
A
G
C
A
T
C
A
C
A
A
C
A
A
C
T
G
A
A
A
G
C
T
A
27050
T K M K N T L I S A S Q Q L K A 478
A
A
T
T
G
G
A
G
T
T
T
T
T
T
C
A
C
A
A
A
A
G
C
A
T
T
C
A
G
C
T
T
G
A
C
T
T
G
G
A
G
A
G
A
T
A
C
A
G
C
27100 |
var(27073):[T:0.07]
K L E F F H K S I Q L D L E R Y S 495
G
A
G
C
A
G
A
T
G
A
C
G
T
A
T
G
G
G
A
T
A
T
GTAAGTGT CTGTGTAATG TATTTGAAAG
27150
E Q M T Y G I 502
GAGCATCTGG TTTCTTGAAG CCATCTGTTA TTTTGCCTTC TTAACTCAGC
27200
CAGTTGTTTT ACTTACCTTC ACATTAGAAC AAGAGACAGG ACAACTTAAA
27250
TTAACATAAA CCATGTTTGT TTTGAATGTT ACCTCTTTTT TTAAATTTGC
27300
TTAGTTGAGC AATTTAGCTT CACAATTGGG CTAAAATTAT TTAGCTCTAA
27350
AAAAATACAG GTGCGATTTA ATAATCTTGA ATTTCAAACC TGATTTTAAA
27400
ATAAATACAA AATCTGGACT TCTTAGCCAG
T
G
C
T
G
T
G
G
A
C
T
G
A
A
T
G
T
A
T
C
27450 |
REPEAT
C
C
C
C
C
C
A
A
A
A
T
A
C
A
T
A
T
G
T
T
G
A
A
A
T
T
C
T
G
A
C
C
C
T
G
A
A
G
G
T
G
A
A
G
G
T
G
T
T
G
27500
G
T
A
G
G
T
G
G
A
G
C
C
T
T
T
G
G
G
A
A
G
T
G
A
T
T
A
G
G
T
C
A
T
G
A
G
A
G
T
A
G
A
G
C
C
T
T
C
C
T
27550
G
T
T
T
G
G
G
A
T
T
A
A
T
G
C
T
C
T
T
A
C
A
A
A
A
G
A
G
A
C
C
T
G
A
A
T
G
A
G
A
T
C
C
C
T
C
A
T
C
C
27600 |
var(27591):[A:0.03]
C
T
T
C
T
G
C
A
T
G
T
G
A
G
G
A
C
A
G
A
G
C
A
A
G
A
A
G
A
T
G
G
T
C
A
T
C
T
A
G
G
A
A
C
C
A
G
A
A
A
27650
G
C
A
G
G
C
C
C
T
C
A
A
A
T
C
T
G
C
C
T
T
G
T
T
C
T
T
G
G
A
C
T
T
C
C
C
A
G
C
C
T
C
C
A
G
A
A
C
T
A
27700 |
var(27667):[A:0.08]
T
A
A
G
A
A
A
T
A
A
A
T
T
T
C
T
G
T
T
G
T
T
T
T
T
A
T
G
G
C
A
C
T
T
A
G
T
C
T
A
T
G
G
T
A
T
T
T
T
G
27750 |
var(27707):[G:0.01]
T
T
A
T
A
G
T
A
G
T
C
C
A
A
A
T
G
G
A
C
T
A
A
G
A
C
A
ACC AGGGGAGTCT TAAACTGCTT
27800
ACTTTTCTGT AAATAATGAC ACAAATATTC TAAGGCTAT
G
TTTTTTTCAA
27850 |
var(27840):[T:0.01]
ACCATCTACT GTGGAGTCCT ACTATTTTTT AGTGTACACA GTCTCCAAAT
27900
TTTCCATATT TGACTCCAAG CTTATCTCCT TCAGATGTAC TAAGGAAGTG
27950
TAAAAAAACA GAGTTAAAAT ATGAGTAAAT TGAAGGAGTC ATACTACCAG
28000
CATTTCTGTT TTCTTTTATA AAACAAATCC TTTTTAGGAA ACAAATACTT
28050
GTTTCCTAAA AACATATACT TGTCCTGAGC AAACT
A
TGTG TATCTCAGAG
28100 |
var(28086):[C:0.38]
TAAACAATCA ATAGTGTCCA GTTGGGTGAA TGA
A
TTTACT CTCCAGAACT
28150 |
var(28134):[G:0.10]
GGTTTTATTA ATATTATTGA TATTTTATTT CTATTTATAT ATTATTGATA
28200
TTTTATTTCT ATTTGTATAT TATTGACATT CTGGTGAGTG ATAAAACATT
28250
ATAATTATTT CATTAAAATA TCTTAGACTT GTCAAAGGCT TATTATACAA
28300
TTGTTAAAGA AAAATGAGGT AGATCTATAT GTGCTTTTAT TAAAAGATCA
28350
CCTAAGTCTT TAGTTGACAG TTTTAAATTG TGGGAAAAAA TAAAGAGTAT
28400
ACAGATGTTT TCACTTGTGA GGGAGCAGGC TATGTGTCTA TGTAACAGAT
28450
AATCATAGTA AGGTCCCTTG AGGTGGATGG TAGAGGGGTA GAAGAGAGAG
28500
TCTTTTCTGT TTATATCCTT TTATAGTATT TAATTTTTAA AAATCATATT
28550
CAAGTATTAA ATTTCTTTTC T
G
G
C
C
A
G
G
T
G
G
T
G
A
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
28600 |
REPEAT
C
A
A
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
A
G
C
A
G
G
T
G
G
A
T
C
C
C
T
T
G
A
G
C
T
C
A
G
G
A
A
T
T
C
A
28650
A
G
A
C
T
A
A
C
C
T
G
G
G
C
A
A
C
A
T
G
G
G
G
T
A
G
A
A
C
G
C
C
A
T
C
T
C
T
A
C
A
A
A
A
A
A
T
G
T
A
28700 |
var(28699):[G:0.03]
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
T
G
C
A
C
A
C
C
T
C
A
G
C
T
A
T
T
C
A
G
G
A
G
G
C
T
A
A
G
28750 |
var(28715):[G:0.12]
G
T
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
C
T
G
G
A
G
A
T
A
G
A
G
G
T
T
G
C
G
G
T
G
A
G
C
T
G
A
G
A
T
28800
C
A
T
G
C
C
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
G
A
G
A
C
T
C
T
A
C
C
T
C
A
A
A
A
28850
A
A
A
A
A
T
TTTT TTTGTTGTTT TTTCCTTTAT CCACCCATCT GCACACTGGT
28900 |
var(28856):[A:0.10]
ATAAATATAT ATATTTTTAA GAAAAAAGTC ATC
T
G
T
A
T
T
C
A
T
T
T
C
C
T
A
A
G
28950 |
REPEAT
G
G
T
T
C
C
A
T
A
A
C
A
A
A
A
T
C
C
C
A
T
A
A
A
C
T
G
A
G
T
G
G
C
T
T
A
A
G
C
A
A
T
G
G
A
A
A
C
T
T
29000
A
C
T
G
T
C
T
C
A
C
A
G
C
C
C
T
G
G
A
G
G
C
T
A
A
A
A
G
T
C
C
A
A
A
A
T
T
G
A
G
G
T
G
T
T
G
G
C
A
G
29050
G
G
C
C
A
T
G
T
T
T
T
C
T
C
T
G
A
A
A
T
C
T
G
T
A
G
A
G
A
A
G
A
A
T
C
T
T
T
C
C
T
T
G
T
T
T
C
T
C
T
29100
C
T
A
G
C
T
T
C
T
T
A
T
G
G
T
C
T
G
C
T
A
G
C
C
A
T
C
A
T
T
G
G
C
A
T
T
C
C
T
T
G
G
C
T
T
A
C
A
G
C
29150
T
G
C
A
G
C
A
C
C
T
C
A
A
T
C
T
G
T
C
T
C
C
A
T
T
G
T
C
A
C
A
G
A
G
C
A
T
T
C
T
C
C
C
C
T
G
T
G
T
A
29200 |
var(29161):[T:0.04]
|
var(29173):[G:0.12]
T
C
T
G
T
A
T
C
C
T
G
T
G
T
C
T
C
T
T
C
T
A
A
G
T
A
C
A
C
T
G
G
T
C
G
T
A
C
T
G
G
A
C
T
A
A
G
G
G
C
29250
C
C
A
G
A
C
C
A
T
T
C
C
A
G
T
A
T
G
A
G
T
A
T
T
A
A
T
T
T
A
T
C
T
G
A
T
T
A
C
T
T
C
T
G
T
A
A
T
G
A
29300
C
C
T
T
A
T
T
T
C
C
A
A
A
T
A
G
G
T
C
A
C
A
T
T
C
T
G
A
G
G
T
A
T
T
A
G
G
G
G
T
T
A
G
G
A
A
T
T
C
C
29350
A
C
A
T
A
T
C
T
T
T
T
G
G
G
G
G
A
C
C
A
C
A
A
T
T
C
A
A
C
T
C
A
T
A
A
C
A
CAT CTTTGATGTT
29400
GATATGGCAA GGAGGCAGGC AGCCAGTAAT TAAAGATATG GCTATTTCTG
29450
AGATAACCAA TTTAGACTTT TCTTTTAG
C
T
T
C
A
G
A
A
A
A
A
A
T
G
C
T
A
A
A
A
G
C
29500 | Exon 14
S S E K M L K A 510
A
T
G
G
A
A
A
G
A
A
A
T
G
G
A
A
G
A
A
A
A
G
G
C
C
A
T
C
C
A
C
T
A
T
G
C
T
G
A
G
GTAAAATCAT
29550
W K E M E E K A I H Y A E 523
TGACGTCATT CTGTATACTT ATTAATTCTT GATGTCTCCA TTAGAAACTA
29600
TCTTTGGTTT TGATATATAA AGAGCATTTT TCATGTCATT CCTGAAATTC
29650
AGACAAAATT CTAGTAGATG CTTTGTATAT AAAGAGGGAT GTATCATAGT
29700
GATTAAAAAC AAG
G
G
C
T
T
T
G
G
G
A
A
A
A
T
T
A
C
C
T
A
G
T
G
C
C
T
C
A
C
T
G
A
G
C
T
T
C
29750 |
REPEAT
A
G
T
T
T
C
C
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
T
G
A
A
A
C
A
G
G
G
T
C
T
C
A
C
T
C
T
G
T
T
G
C
C
C
29800 |
REPEAT
A
G
G
T
T
G
G
A
G
T
G
T
A
G
T
G
G
C
A
T
G
A
T
C
A
A
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
G
A
C
T
T
C
C
C
29850
A
G
G
C
T
C
A
A
G
C
A
G
T
C
C
T
C
C
C
A
T
C
T
T
A
G
C
C
T
C
C
T
G
T
G
T
A
G
C
T
G
G
G
A
C
A
A
G
A
G
29900
G
T
G
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
C
T
T
T
T
A
C
A
T
T
T
T
T
T
G
T
A
G
A
G
A
C
G
G
G
G
T
C
29950
T
C
A
C
T
A
T
G
T
T
G
T
C
C
A
G
G
C
T
T
G
T
A
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
T
A
A
G
C
A
A
T
C
C
T
C
30000 |
var(29995):[G:0.02]
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
T
A
G
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
C
A
T
C
30050
C
A
G
C
T
A
G
T
T
T
C
C
A
T
A
T
T
A
T
A
G
G
G
A
C
A
A
T
T
T
C
T
T
T
T
C
T
A
G
T
A
G
G
G
T
T
A
T
G
A
30100 |
REPEAT
A
G
A
T
T
A
A
A
T
G
G
G
A
G
T
C
A
G
T
A
ATGGTAGTTG TCACTATTAT TTTTGTGACT
30150
GGTTTAGA
T
A
G
G
A
T
G
G
C
T
G
C
A
C
A
T
C
C
T
G
G
T
T
T
A
C
C
T
G
G
G
A
C
T
G
T
C
C
C
A
G
T
30200 |
REPEAT
T
T
A
T
A
C
T
T
A
A
T
G
T
C
T
T
G
C
C
A
T
A
A
T
T
A
T
C
A
G
T
A
G
T
A
G
T
C
C
C
T
T
T
C
A
C
T
C
T
C
30250 |
var(30214):[T:0.03]
A
A
A
A
T
T
A
T
G
C
C
G
G
T
T
T
G
G
A
C
A
A
T
A
A
A
T
T
A
T
A
T
G
G
T
G
T
C
C
C
T
A
GGTATAGC
30300
TCATTCTCTA GGTGGCAGAT TTTTTCCCCT TATCCTGTAC ATTTGTCCAC
30350
GGTCCTAAGT TATTACACTC CTTAATGTCA GTACTTACCC TGAGGATGTG
30400
GGTGGGGATA CCCATGGT
A
T CCTGGGGTGG GAAATCCAAG TTCTTTATCT
30450 |
var(30419):[G:0.35]
TTTTGTGTCC CTATTCAAGG TAGTGGGGAC CAGGGGGCAG TCAAAATCAT
30500
AGAGCCAAGA TACAAGTAAT ACCAATGGTT TTGGTGGTCC TTTTTCTTTC
30550
TTGTTAGTTG ATACCTGTTG TAGCTTTTTG CTTCTCCGGA GGTAAAAGCA
30600
AATACTAGTA GTTTACTGTT GTCAGGAGAG AAAAGAGAGA AGACTAAGAC
30650
TAAGTATGTT CTTATGTGAA AGATTAAGTG TCAGAATCTG AAGAATAGAA
30700
AGGCTTTAAC AAAATCAGTG TTTCGTATTA TATTATTTAG TTCTCTAATG
30750
AAGCAGCAAG TCATTCTGTA TCCTTAAGAT CTGAATTTTG TTTCCTATGA
30800
TGTAGTGGTA AGCCTTTCAT TTCCTTTGTA TTTTCATCAT ATTTTAG
G
T
T
30850 | Exon 15
V 524
G
G
T
G
T
C
A
T
T
G
G
A
T
A
C
C
T
G
G
A
G
G
A
T
C
A
G
A
T
T
A
T
G
T
C
T
T
T
G
C
A
T
G
C
T
G
A
A
A
T
30900
G V I G Y L E D Q I M S L H A E I 541
C
A
T
G
G
A
G
C
T
A
C
A
G
A
A
G
A
G
C
C
C
C
T
A
T
G
G
A
A
G
A
C
G
T
C
A
G
G
G
A
G
A
C
T
T
G
A
T
G
G
30950
M E L Q K S P Y G R R Q G D L M 557
A
A
T
C
T
C
T
GTA AGGATGCACT TGTGTTGTTG GTCTTGACAT CTGTAATATT
31000
E S L 560
TTGTATTCTT TCTGCTTACA TCTGGCAAAT TAAACCTCTA GTGGTTCTTT
31050
TCTATAGTTT TCCTTTCCCC AAATATATTG GCATTATATT TAAAATGGAA
31100
GCTTTTTCTC AGTCACAGGA AACTTCGGAA ATAATTCTTT GGGTTGGCCT
31150
TTTTTGGTTT TTAATAAAAG CATTTATTTC ATAGGAGTGT TAAGAATTTT
31200
CCAAGTATAA CTAAGTTACA AACTATTTCC CTACTCATTA TA
C
CTCTGGT
31250 |
var(31243):[T:0.07]
CCAAGGTATT GACTCTTAAA TGCCCTAAAA CTTGAAATTT TTTCTGAATT
31300
AAAGTTCTGG ATTAAAAACT TCAGATATTT TCTCGAATTA TAGGTCATAA
31350
TTTTTGTCTT TTTAAGTGTC TGTGGTGCAG AGATGTCCCC ATGATAGATC
31400
AGAATAGATA TGAACTATAT TAAACTTTGC ATTTTAAGAA CTTGTATAGT
31450
TCTTATTACT CAATACAATG CTCTGTGAAA TACTTGTTGG CAATATGAAC
31500
TTGCTTTAAA ATGGGTTCAT TATTCAAATA AAATATTGTT TCAAGTTGTA
31550
GATTATTGAA GTCATTAAAT TACCTTCACT TATCAGAGCG TGTTTTCTCT
31600
TTTATAG
G
G
A
A
C
A
G
C
G
T
G
C
C
A
T
T
G
A
T
C
T
A
T
A
T
A
A
G
C
A
G
T
T
A
A
A
A
C
A
C
A
G
A
31650 | Exon 16
E Q R A I D L Y K Q L K H R 574
C
C
T
T
C
A
G
GTA AGACACTTCT ACCACAGTGC TTGAAGGCAT TTTAGGTAAC
31700
P S 576
TATCACTAGC CTAACAAATG TGGGGGATCT AATATTTTTA AGTTAAAA
A
T
31750 |
var(31749):[T:0.01]
TTTCTTAAAG CTGCAGAATA AATTCCAGTT TTGGTATTGC CATTGAGACA
31800
TGGTATAATA AGCTTTAAGA TTGTGAGAAT TTAGGAGATG ATAAAGAGAA
31850
AGTAACAGAG AACGTGAGGT AGAAAAATTT TAGAAGGGGA CGTGAAAAGA
31900
AAGAATGGAA GACAGAAAAA AGGAACTCAG AGAGGAAAAA GCAGCAAGAA
31950
AATGTTTAGA AAGATGGAAA AAATAAGTGT TGCTTAAGAT TAGAGAGGTT
32000
G
G
G
C
C
A
G
T
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
G
C
C
A
32050 |
REPEAT
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
A
A
C
C
A
G
C
T
T
G
G
C
C
A
A
C
A
32100
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
A
T
A
G
A
A
A
A
G
T
T
A
G
C
T
G
G
G
C
A
T
G
T
T
G
32150
G
C
A
T
G
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
A
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
32200 |
var(32152):[T:0.05]
T
T
G
A
A
C
C
T
G
G
G
A
A
G
A
G
G
A
G
G
T
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
32250
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
A
T
T
C
T
G
T
C
T
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
A
A
A
32300
TATTATAGAG GTTGGAAAGA ATTTGAGGCA GTGGGTTCAG GTAT
G
GAATG
32350 |
var(32345):[T:0.01]
GTTAGAGGGA AGGCCTGTGC TGTTCTAGGC CAAAGCAGAT TGCTTTGAAA
32400
ATAATGCCTT CATCTGCACT GGTCACTGAT GACTTGTTTT GTTGGCAAAA
32450
TAATTCCAGT TGAACATCTG CTAAATACTG AGCAAGGTCT GCTG
G
A
A
A
G
A
32500 |
REPEAT
G
T
A
C
T
G
G
A
T
G
G
G
G
A
A
T
C
A
G
A
G
G
C
T
T
G
A
A
T
T
C
T
A
G
A
T
T
G
A
G
T
A
A
T
T
T
A
C
T
G
32550 |
var(32527):[C:0.01]
A
C
C
G
T
T
A
C
C
T
C
A
G
G
C
A
A
A
T
C
T
G
C
G
T
T
T
C
C
C
A
T
T
T
C
C
T
T
C
T
T
C
T
G
C
A
A
A
A
T
32600 |
var(32588):[C:0.08]
G
G
G
G
T
T
G
A
A
A
C
C
T
A
G
C
T
T
T
C
C
T
A
C
T
C
A
G
T
G
A
G
T
A
T
A
T
T
G
T
G
A
CAGTGTAT
32650 |
var(32615):[A:0.04]
TTAAGAGGAT GTTTGTGAAA ATGCTTTGAA AACTATAAAC TATTATGTAC
32700
TTGCAAGATA TTATCATTTA GTTAAAAATT TGTTTTGAAG GGTAACAGAA
32750
GAAATAAAGT CTGTGCCCT
A
ATGTGCATTA TACTTAAATG CATGTTAAAA
32800 |
var(32770):[:0.01]
AAAGATATAC TTTTACA
C
TT TAAAATTTGT AGACACATAG CAACACATGC
32850 |
var(32818):[T:0.01]
AAATTAATAT ACATGTGAAA TTGTATTTCA TATACTATTT TCACAT
T
TAA
32900 |
var(32897):[G:0.01]
AAAATAACAT TATCTCCTCT TATACTGCTT TTATTTTACT GAAATGTATT
32950
CAGTTTAGTC TGAC
C
A
G
C
A
G
T
T
C
T
C
A
A
A
A
T
G
T
G
G
C
A
T
A
T
G
G
A
C
C
T
G
T
G
A
G
33000 |
REPEAT
A
A
T
C
C
T
T
G
A
A
A
C
T
T
T
G
T
C
A
G
A
G
A
G
T
C
T
G
T
G
A
G
G
T
T
A
G
A
A
C
C
A
T
T
T
T
C
A
T
A
33050
A
T
A
A
G
A
T
G
T
T
A
T
T
T
G
C
A
T
T
T
T
T
C
A
C
C
A
T
G
T
T
G
A
C
A
T
T
T
T
C
A
T
T
G
A
T
G
G
T
G
33100
C
A
A
C
A
T
A
A
A
A
T
G
G
C
T
T
T
C
A
C
C
T
T
A
G
T
A
T
G
A
A
T
C
A
A
G
G
C
A
C
T
A
G
C
G
C
C
A
A
A
33150
C
T
A
T
G
C
T
A
G
T
A
G
C
C
G
T
T
A
T
A
T
T
T
T
T
T
A
C
C
A
C
C
A
T
G
C
A
G
T
C
A
C
A
G
T
T
T
T
T
A
33200 |
var(33153):[G:0.12]
A
A
A
A
A
T
G
A
C
A
G
T
T
T
C
A
C
T
T
A
C
A
A
A
T
G
T
C
C
T
T
G
A
T
A
A
A
G
C
A
G
T
A
A
A
A
A
T
A
T
33250
T
A
T
T
T
T
A
T
T
T
A
A
A
T
C
T
C
A
A
C
G
C
T
T
G
A
G
T
A
T
G
G
G
T
T
T
T
T
A
A
T
A
T
T
T
T
G
T
G
T
33300 |
var(33252):[G:0.01]
G
A
T
G
A
A
A
T
G
G
G
A
A
G
T
A
C
T
C
A
T
A
A
A
G
T
G
T
T
T
C
T
T
C
T
A
T
A
C
A
G
T
G
A
A
G
T
A
T
G
33350
A
T
G
G
T
T
G
T
C
T
T
A
A
G
G
A
A
A
A
C
C
A
C
T
T
C
A
G
T
A
A
T
T
G
T
T
T
A
C
G
T
T
G
C
T
A
G
T
T
G
33400
T
C
T
G
G
C
C
T
C
T
T
T
C
A
G
G
G
A
A
G
A
T
A
C
C
A
T
T
T
T
T
A
C
T
T
G
G
A
A
G
A
G
C
A
A
C
T
G
T
C
33450
A
G
G
C
A
A
A
C
T
A
T
G
A
T
T
A
T
T
C
A
G
A
T
T
T
G
C
A
T
A
C
G
T
G
A
G
A
T
A
A
T
T
T
C
T
A
A
G
A
A
33500 |
var(33460):[G:0.03]
A
T
T
A
A
A
T
G
A
A
A
A
T
A
A
A
A
A
G
T
A
T
A
G
C
A
C
A
C
T
T
A
T
T
A
C
T
T
T
A
A
G
G
G
A
A
A
A
A
A
33550
G
C
A
G
T
A
T
T
T
G
T
T
G
T
C
A
A
T
G
A
T
A
A
A
A
T
T
C
C
A
T
G
T
T
T
C
A
A
G
C
A
A
A
A
A
G
A
A
T
T
33600
T
T
A
G
A
A
A
A
C
T
T
G
T
A
T
T
T
A
C
C
A
G
C
T
G
G
A
A
T
G
A
C
A
G
C
T
T
C
T
C
A
G
T
A
C
T
T
A
A
A
33650
A
A
C
T
T
T
T
C
T
G
A
T
G
A
G
A
T
T
A
G
T
G
G
T
G
A
T
A
T
C
A
G
A
A
A
G
G
T
T
T
G
C
A
A
A
A
A
T
G
T
33700 |
REPEAT
A
A
A
A
C
A
G
T
G
C
A
A
G
T
G
T
T
C
T
C
A
C
T
C
A
A
A
T
T
T
T
T
T
T
G
T
T
T
T
A
G
A
A
A
A
T
A
T
CG
33750 |
var(33708):[C:0.01]
|
var(33722):[:0.02]
T
T
T
T
T
T
G
G
T
T
T
T
T
G
T
T
T
T
T
A
G
A
G
G
T
G
G
G
C
T
C
T
T
G
C
T
A
T
G
T
T
G
A
C
C
A
G
G
C
T
33800 |
REPEAT
G
G
C
C
T
T
G
G
A
C
T
C
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
C
C
T
T
C
C
A
C
T
T
C
A
G
G
C
T
T
C
C
A
A
G
33850
T
A
T
C
T
CAAGT AGCAGTAACC AGTGAAAGGA GGTGGCTCTC GTAGATATGA
33900
GTATACTGTG TAGACACATG T
A
T
G
T
A
T
A
G
C
A
C
T
T
A
G
C
A
T
G
T
C
T
G
A
G
G
A
A
A
33950 |
NOT SCANNED
T
G
C
A
G
T
A
T
G
A
C
T
G
G
A
G
T
G
T
A
G
A
G
T
T
T
C
A
G
G
A
G
A
G
A
G
A
A
A
A
C
C
T
A
A
A
T
A
T
A
34000
G
G
A
G
A
G
A
G
A
G
A
A
A
A
C
G
T
A
A
A
T
A
T
A
G
G
T
T
T
T
T
T
T
G
T
T
T
G
T
T
T
T
T
A
A
T
A
A
A
A
34050
A
C
A
T
G
T
T
A
A
T
G
G
G
C
A
A
T
A
G
G
T
T
T
G
T
T
A
T
T
T
T
T
A
A
A
T
G
A
A
T
T
A
A
G
A
C
A
C
G
A
34100
GTATTTTTAA ATTTCTGTTT AATTCCTG
A
A
A
A
A
C
C
C
T
T
T
G
G
G
G
T
T
C
T
C
A
A
34150 |
REPEAT
G
A
A
T
T
T
T
C
T
A
G
T
G
T
A
A
A
G
G
G
G
T
C
C
T
G
A
G
A
C
C
A
A
A
A
A
G
T
T
T
G
A
G
A
A
C
T
G
C
T
34200
TATCTAG
A
C
T
A
T
T
C
T
C
A
G
A
A
G
C
T
T
G
G
C
T
G
C
T
C
A
G
G
A
A
A
G
A
A
G
A
G
A
G
G
T
G
G
34250 |
REPEAT
G
T
G
A
G
T
A
G
C
T
A
A
A
A
G
T
T
G
A
T
G
T
A
G
A
G
T
C
A
A
G
G
G
A
G
GTCAC TTCTCAGAAG
34300
GAAGACTTAA ACATGAG
G
T
G
C
C
A
C
A
T
G
A
T
G
A
T
G
T
T
T
T
G
G
T
T
A
A
C
A
A
C
A
A
A
34350 |
REPEAT
T
T
G
T
G
T
A
T
A
C
T
A
T
G
G
T
A
G
T
C
C
C
A
T
A
A
G
A
T
T
A
T
A
C
T
A
C
T
G
T
A
T
T
T
T
T
A
C
T
A
34400 |
var(34363):[C:0.11]
|
var(34389):[A:0.08]
|
var(34399):[C:0.02]
T
G
T
A
T
T
T
T
C
T
A
T
G
T
T
T
A
C
A
T
G
C
A
C
A
A
A
T
A
C
T
T
A
C
C
A
T
T
G
T
G
T
T
A
C
A
G
T
T
G
34450
C
C
T
A
C
A
G
T
A
T
T
C
A
G
T
A
C
A
G
T
C
A
C
T
T
G
C
T
G
A
A
C
A
G
G
T
A
T
G
T
A
G
C
C
T
A
T
T
G
T
34500
C
A
A
A
A
G
G
C
T
A
T
A
C
C
A
T
A
C
A
G
C
T
T
A
A
G
T
G
T
A
T
A
G
C
A
G
G
C
T
G
T
A
C
C
A
T
C
A
G
G
34550
G
T
T
T
G
T
A
T
A
A
G
T
A
T
T
C
A
C
A
C
A
G
T
G
A
C
G
A
A
A
G
T
G
C
C
C
A
A
T
G
A
T
G
C
A
C
T
T
C
T
34600
C
A
G
A
A
C
A
T
A
T
G
C
T
C
AGGGCC AAAAAAGCCT GTGGAGAGGG AGGTCCCTGA
34650
ACAAGTTGAG AGATTGGCTC CAAAGAACAG TAGGAGGGAT TAGCCTTGAT
34700
ACTATTGATA TTGGAAAGAG AATGAGTGTG GATACAGATA CTTTTTTGGG
34750
AGTAGAGGTT GGAAGATCAG GGTCTTACTG CCTTATGGCC TCTTATCCTG
34800
CAGTGGTAAG TGAGGTTAAC TGAAATGGAA GAGGTGACGA CCTCATAGAT
34850
TTGAATAGAG TGCTAAAGAC TTCTAAAAGC CACTGTGTGC AGTGGAAGAT
34900
GTTGTTGACC CAAAACATTC ATTAAGAAT
C
C
A
G
G
C
C
A
G
G
T
G
G
C
T
C
A
T
A
C
C
34950 |
REPEAT
T
G
T
G
A
T
A
C
T
A
G
C
G
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
A
C
A
G
G
A
G
G
A
T
C
G
T
T
T
G
A
G
G
C
C
A
35000
A
C
A
G
T
T
T
G
A
G
A
C
C
A
G
T
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
35050
A
A
A
T
A
A
A
T
C
A
A
T
A
A
A
A
T
T
T
T
T
A
A
A
A
A
G
C
T
G
G
G
T
G
T
G
G
T
A
G
T
G
T
A
T
G
C
C
T
G
35100 |
NOT SCANNED
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
A
G
T
A
G
C
A
G
G
A
T
C
G
C
T
T
G
A
G
G
C
C
C
A
G
35150
G
A
G
G
T
C
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
A
C
A
C
T
A
C
T
G
C
A
C
T
T
C
A
G
C
C
T
G
G
35200
G
T
T
G
A
C
A
G
A
G
C
A
A
G
A
C
T
T
T
C
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
CCCAGAGC
35250
AGAAATGAAA AACCTGTGAA TTAGCAGTGA CAAATAGTGA ACAGTAATAT
35300
TAATTTTTTG TTGATAATTT AGTAGCTTGG ATACAGGAAC TGATAGAGCA
35350
GATGGTTGGA TTAATCCAAG GTTAGGATTT TGCTGATGGA ATAAGAGGAT
35400
AAAAAGGTTG AAGATGTTAA CAAATAGTGA TTTAAGTGAT AGAAGTTGTA
35450
GCTAGAGTAA AATATTAAAA TCTAAGATTT CAAAT
A
GAGC AAGTCCAATT
35500 |
var(35486):[C:0.01]
CTTTTTCTTT AATCAATATT TCTGG
G
C
C
A
G
G
C
G
T
C
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
35550 |
REPEAT
A
A
T
C
C
C
A
G
C
C
A
C
T
T
T
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
A
G
G
G
A
35600
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
A
C
C
A
A
G
A
C
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
G
G
G
T
35650
G
A
C
A
G
A
G
C
T
A
G
A
C
T
C
C
A
T
T
T
C
A
A
A
A
A
A
A
A
A
A
TTCTGACTC CCAGTTTTCT
35700
GGCTAATGAA TCAGATACCA CAGATACACA GTGATAGCAT TTGTTTAGGT
35750
TATATTTTTT AAAACTTTGA GG
C
AGCCCTG TCAACATACC ATGAAGCTCA
35800 |
var(35773):[T:0.34]
GAAATAAACT GCTACCCAGG TAGCTT
C
T
T
T
GAGTGTCACC TTGAGTGACA
35850 |
var(35827):[:0.03]
AACTGTAACA AGATTGTGTC TGTCATTGGG GCCTATTATA TAATCACACT
35900
TGATTTGTGG CCTCTATTGT CTTTTCTAGC TTAGAGTTGA CTTGAATCTC
35950
TTGTTCATCT GAAATGGTTA AAACCAGCTT TCTTCATTAT CCTGGAGAAG
36000
GCTAAAGTTC TGAGGGCTTT CACTGTCTTA AGGAGCTAGT TATATGAGAA
36050
AGCTCTTGGC TTGGTCCATG GTATTTAGGA AGGAATGCTG TTTGGAGAAG
36100
AACCTTTTTG GAGCCTTGCA TTTGATTGTT GGTGAG
G
AGG AGACAACAGA
36150 |
var(36137):[A:0.11]
GATGTGTGGG GAATAAAGTT GGGCTATGGG GGA
A
GTATTT GGAGTGATAG
36200 |
var(36184):[T:0.03]
ATAACAAAGG ACACAACGTT TTTTA
A
A
C
C
T
C
C
T
T
T
G
A
T
G
C
T
C
A
T
C
A
T
T
T
C
36250 |
REPEAT
C
T
T
T
T
T
G
G
T
A
A
A
A
T
G
G
G
G
G
T
A
A
C
A
A
A
A
G
T
A
G
T
C
T
T
C
T
C
A
C
A
T
G
A
C
T
G
C
T
G
36300
T
G
A
G
G
A
T
T
A
A
A
T
G
G
G
AAAAT TATAAGCAGA GAGTAGCAAA TATTATTATT
36350
ATTGCATTTA GGCTTAATTA TTGTCCAAAG AA
T
ATACCAG CATGATGCAT
36400 |
var(36383):[A:0.31]
AAGCAACTTT CAACTCCTTT AGCCATTTTC TGAAATATAA CAATTAATGA
36450
TTTTTTTTTA AAATCGAGGT CACATTTTAA ACTGTAGAAC CCATTGTGAC
36500
CAACAGCCAT CCCATTTGAG GGTATCTGGC TGCTGCCAGT TG
G
C
T
T
T
A
A
G
36550 |
NOT SCANNED
A
T
G
T
C
A
T
A
C
T
G
C
C
C
T
C
A
A
A
T
G
G
A
A
C
T
T
T
C
A
G
G
A
T
G
T
C
T
A
C
A
G
G
T
C
C
C
T
T
T
36600
A
C
T
A
G
T
T
G
G
T
T
T
C
A
A
T
G
A
G
C
T
T
T
T
T
T
C
A
A
A
G
T
T
T
T
T
C
T
G
G
G
T
T
G
T
A
A
A
C
A
36650
G
A
C
G
G
A
T
A
A
A
C
A
T
G
A
A
A
T
T
C
C
A
A
G
C
A
A
C
C
T
A
G
T
T
C
A
A
G
G
G
C
C
T
C
C
T
T
C
C
T
36700
T
T
A
G
G
T
A
A
T
G
A
A
A
G
T
T
T
G
A
T
G
A
A
T
T
G
T
C
C
T
A
C
T
G
T
T
T
C
T
A
A
A
T
A
T
G
T
G
G
T
36750
T
A
A
T
C
A
T
C
C
A
A
G
A
A
A
A
A
T
T
G
T
T
C
C
C
T
T
G
G
C
C
A
G
A
G
G
C
T
G
C
A
T
T
T
G
T
G
T
C
T
36800
A
G
GGCTTGGG TTAGTATGGG TTAAAGATAG CCAAGACTAT TGTTCTCAAG
36850
CACAGGCAAC TAAGGTCTCT TACTGATAAA TTTATATATA CATTATACAC
36900
CTGCAAACTT TATTTTTTAT ATATAACTAG ATTTTATTTA TAGGTAATCT
36950
TTATATCTTT TATCTTAACC CAATTTTTAA TTTAAATGGA GATGTTTATT
37000
AATTAAAATT AGTTTCAGAG TTTCAGGGAT TTTTGAG
G
AA TTTTTTGTT
T
37050 |
var(37038):[A:0.08]
|
var(37050):[C:0.02]
GGAGGCTGAT ATGTTACAGA AGAAAGGTTA TATCCACTGA CTGATGTCTT
37100
TTATAG
A
T
C
A
C
T
C
C
T
A
C
A
G
T
G
A
C
A
G
C
A
C
A
G
A
G
A
T
G
G
T
G
A
A
A
A
T
C
A
T
T
G
T
G
37150 | Exon 17
D H S Y S D S T E M V K I I V 591
C
A
C
A
C
T
G
T
G
C
A
G
A
G
T
C
A
G
G
A
C
C
G
T
G
T
G
C
T
C
A
A
G
G
A
G
C
T
G
T
T
T
G
G
T
C
A
T
T
T
37200
H T V Q S Q D R V L K E L F G H L 608
G
A
G
GTAGGAA AATTGCTTCA TTTCCTACTG AAAAACCAGG ATACGTTTAT
37250
S 609
CTTGTTCCTC TCAAAGTACA AAAGCCCTCT TTGGTAAAGT ATACTTACCC
37300
AGGAAGAATT CTGAAGGTAC CTTGGGTAGC TTGGCCATAG CTATCTGCAT
37350
TTATGTGTCC TTTTGTATGC ATTACTTTGG AGATAAGTCA TTAAATCTGA
37400
TGCTGATTGT GGTTCATTTC CTCAGCTGGG TTTTGGGAAT ATGGTGTACA
37450
GTCTTGGGGC ATGTGAAAGT GTCTGACACT GATTTAATCT CTCCAG
C
A
A
G
37500 | Exon 18
K 610
T
T
G
T
T
G
G
G
C
T
G
T
A
A
G
C
A
G
A
A
G
A
T
T
A
T
T
G
A
T
C
T
A
C
T
C
C
C
T
A
A
G
G
T
G
G
A
A
G
T
37550
L L G C K Q K I I D L L P K V E V 627
G
G
C
C
C
T
C
A
G
T
A
A
T
A
T
C
A
A
A
G
A
A
G
C
T
G
A
C
A
A
T
A
C
T
G
T
C
A
T
G
T
T
C
A
T
G
C
A
G
G
37600
A L S N I K E A D N T V M F M Q 643
G
A
A
A
A
A
G
G
C
A
G
A
A
A
G
A
A
A
T
A
T
G
G
C
A
T
C
T
C
C
T
T
A
A
A
A
T
T
G
C
C
T
G
T
GTAAGT
37650
G K R Q K E I W H L L K I A C 658
AATTATTAAT GAATTATTTA ATGTGACAT
T
GAGTTGCTAT TATTCCTTGC
37700 |
var(37680):[G:0.30]
AAAGGGGATT TTTATCAGCA TGAGGTGGGC CCTCTTGAAG ACATGTATAT
37750
TTTGCATTGG GATGACATCC ATGTTCCTTG CTTGGTGTCC AGACTAGCAA
37800
TTGAGATGCA GGACTTATTA TCATCTCTCC TTTCCAATTT CTCTGTTGTT
37850
ATACTCCTCT TAGCCCTTGA CTACTGTGGT ATTCCAACCT AACTTGGGGA
37900
TAGATGTACC TGCCTAGATA ATGAAATTGA CCATCTATTC AACTGGGTTT
37950
TTTTTTTCTT TCTTCAACTA AAATGGTATA AGATGAGTGG ATATATTTGG
38000
TTTTAGTCAA TGAAGAAAGG GTCCAAGGAC AGGTTACTAA TGGTGTGTAA
38050
AGGTGGGAAT AGTTTTGTAC TGAAATACTC TGGTTGTGCA TATAAGTAGT
38100
AACGGAAATG TAAGTCTTAG GAATATGATA AGAAATTGTG TGAATCAACA
38150
GAGATGCTTG CCTGTAATCT TTTGATGTTT TTTTCTTTTC CTTCAG
A
C
A
C
38200 | Exon 19
T 659
A
G
A
G
T
T
C
T
G
C
C
C
G
G
T
C
C
C
T
T
G
T
A
G
G
A
T
C
C
A
G
T
C
T
A
G
A
A
G
G
T
G
C
A
G
T
A
A
C
C
38250
Q S S A R S L V G S S L E G A V T 676
C
C
T
C
A
G
A
C
A
T
C
A
G
C
A
T
G
G
C
T
G
C
C
C
C
C
G
A
C
T
T
C
A
G
C
A
G
A
A
C
A
T
G
A
T
C
A
T
T
C
38300
P Q T S A W L P P T S A E H D H S 693
T
C
T
G
T
C
A
T
G
T
G
T
G
G
T
A
A
C
T
C
C
T
C
A
A
G
A
T
G
G
GTGGGTTTAC TTTGTAACAA
38350
L S C V V T P Q D G 703
TAGATAGCTG TGTTTTCATA GCAGTGGTAT AGGAATGAG
G
C
A
G
T
A
G
T
T
G
T
38400 |
REPEAT
T
A
A
G
G
T
A
G
T
C
T
T
C
T
G
T
G
C
C
T
T
C
A
G
A
C
C
A
G
G
G
T
T
G
A
G
T
C
C
T
G
A
C
T
A
T
C
C
C
T
38450
T
T
G
T
A
A
T
A
A
T
C
T
T
A
G
G
C
A
A
C
T
T
A
C
T
T
G
A
C
T
T
T
T
T
T
G
A
T
G
T
T
C
A
T
A
T
T
T
C
C
38500
T
C
A
C
C
T
G
T
A
A
A
A
C
A
G
G
A
A
T
G
T
C
T
C
A
T
A
G
A
A
C
T
G
C
T
G
T
G
G
A
A
A
T
T
T
G
A
T
T
A
38550
G
A
C
A
A
T
G
T
A
T
A
T
A
A
A
G
T
G
C
T
T
G
G
G
A
A
A
T
A
A
A
T
G
T
T
C
A
G
C
A
A
A
T
G
T
T
G
C
G
T
38600
A
T
T
A
T
T
AGCT CAAATGTTGC TTATTATTAG CTAAGTCCAA GTTCTAAGTC
38650
CTTTCTTTTA TTGGCTTATT ACTTTCTTTT ACTCAAACCT TACTCCTTCA
38700
TTAACAGTTT ATGAGAA
A
TT ATGCTATCAT TTTGCATTTA TCATTTTGGG
38750 |
var(38718):[G:0.01]
GATCCTTGAT TACCCTTCTA ATAAATTTTT GAGATCTATT TTATAACTTT
38800
GTATTTCTAA GATTAGACTT TTTTCAGTGT TTTAAATCAG TTTTGCAAGA
38850
ACTCAGATTC CAAGCCCTAT ATTTTATTAA TTCCTACTCT TTTGCTAAAA
38900
GCTGAATGAC TATCCATTTC TGTTATTTTC TCAGCTTAAG ATGTGCCGTA
38950
TCCAAAGCCA GTGGCTCTTT GCTAGCTTGT GT
A
TTGTCGC TTTTCTCACA
39000 |
var(38983):[G:0.03]
ACTCATGGAG ACCTCTACAG CACCAGCATT TCCTGGAAGC TCTGCCCATA
39050
ATTAGTTTTG CAGAAGTGCA GCCATGTTAC ATCACTGCTC AGGAGGTCAT
39100
GCAGTTGCAC ATTCTGTACT CTACTTTTAT GAGAGAAAAG CACATGGCAG
39150
GAAGGCAAGC TGATATCAGG TATTTTATTT TTTTAAAGAA AGCAAGTTCC
39200
AGGGTATATA TCTTGGGGTC ATTATACATG TGGCCCAATG CAGTACACCT
39250
ACAACTGTAG CACAGGCTAT AATTAAATAT ATAGACTTTA CAAAATACTC
39300
CAGTAATCAG AGTTGAAGGA AGTAAAATTT AATACTTTAC TTACTTTTTT
39350
GCCTTTATTA AAGGCATTTA AGTTTTTTAG CGGATGTTAA TGTTTACA
A
A
39400 |
var(39399):[G:0.07]
TGTCACCACA ATACAGGTAA TTTCCAATTT GAAGTGTAGT TGCTTGCAAA
39450
AGTATATCTG ACAGACATTT TCAATGTATT TTCTAGAAGG AACACATTAT
39500
A
T
T
T
T
G
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
A
T
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
39550 |
REPEAT
G
G
C
A
C
A
G
T
C
T
T
G
G
C
T
C
A
T
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
A
T
T
C
A
A
G
C
A
G
T
T
C
39600
T
C
C
T
G
C
T
T
C
A
G
C
T
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
T
C
A
G
G
T
G
C
G
T
G
C
C
A
C
C
A
T
A
39650
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
A
G
T
A
A
A
G
A
C
G
G
A
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
39700
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
A
G
T
A
A
T
C
C
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
39750
A
A
A
A
G
T
G
C
T
G
G
A
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
T
G
T
C
C
A
G
C
C
AGAATACAT
39800
TGTATAAGAA AATTGATTTC AATTATAATG TACCTGTGGT ACTTAACTAC
39850
CAAGGATTGG GAACTGTTTG ACCATAATTT TTCCATCTGT TGGATAAGAG
39900
CTGAATCAGA ATGTCATTCT AAGCTAATAG TGGCTATCAT CCATGACCTA
39950
AAACGGACTC TTGTTAGGGG ACTGAAGATT GGCAAA
G
GGA GAAGCTAGAG
40000 |
var(39987):[A:0.01]
GCCATATAGA AGAGGAAAGC ATGAAGGTAG AAACCACAAT CAGGACTGCC
40050
TTCAAATATG AACTTCCAGG GATACTTCTT GGTTCTGGGT AGCTCCCCCA
40100
CCACACTGTT TTCTTTTGCT GTCCTCAGGA ATCAGCTTGC TTGTTTCGTT
40150
TCATTGCTAT CATCTGTAGT TTCTAATGAG TTTTTCACTT TCTGTGATCT
40200
CTACAGAACA GATTTTACTT TTCTCTCTTC TCCCCTACAT TTGTGTCTGT
40250
GAAGTATGCA TGCTGGTGTT TTTACTACTT TTAAGGAAAG AGAAGTATTT
40300
AGAAACAAAA ACGTATTTCA TCTGTCTTTG CCACAAGGAT TTTTTCCTCC
40350
CTAGTTACAT TTTCACGGGA AAAACAAGTT GTACATAAGT GCATCTTACA
40400
TTTCAGAGGA AAGTCAGACT GGAGTTATAG TGGACTTCTT ATCATTAGTT
40450
AGGTAGAGGT AGAGGCAGCA GCCTGGTCTT AACAGGACTC TGCCTCTGTA
40500
GGGAGGGATG AGGAAACTAA AGACTACAGG AGTCAACTGC ACTGGGGTAC
40550
TGGGTTACAG GAAGGCTAGT GATCTTGCTA ACCTAGAAGA CTAGAAAGTA
40600
GAGGAAATTC ATATGCCCTT TTCCTGAGTT TGAAAAGGCT TTGTTCTTTC
40650
ATCTCACAG
G
G
A
G
A
C
T
T
C
A
G
C
A
C
A
A
A
T
G
A
T
A
G
A
A
G
A
A
A
A
T
T
T
G
A
A
C
T
G
C
C
40700 | Exon 20
E T S A Q M I E E N L N C 716
T
T
G
G
C
C
A
T
T
T
A
A
G
C
A
C
T
A
T
T
A
T
T
C
A
T
G
A
G
G
C
A
A
A
T
G
A
G
G
A
A
C
A
G
G
G
C
A
A
T
40750
L G H L S T I I H E A N E E Q G N 733
A
G
T
A
T
G
A
T
G
G TAAGTTTTGT GTGGATATGG GTGCCTGCTT TGGCTATGTT
40800
S M M 736
GGGTGCAAAA GGTTTAACTT TCCATGCTAG CCTTATCTGG CATTTGGGAT
40850
GCATATGGGA AATAGAAGAA CTCAAGAGGA AAGAGCATTT GGGGAATATC
40900
CTCAACCTTA AATCCTTATC TGCCGTTACT CAGGGATATA CTAGGATTAT
40950
GTCATCAATT ATCTTCAATA ATAGCATTTT TGGTCAAATT AAATGAGTG
G
41000 |
var(41000):[A:0.02]
TAAGCTTCTT CACAATGTGA CCATTGAAAT TGAATGGTTT GTTCTGTACC
41050
TTTTTGCTTC AGCAATCAAT TTTCTCCATT AAGATGGGAC TTGTACTTTA
41100
ATTCAGATAT GGTACCTCCC GAATAGAAAA TAAATTATGT TAATATAGTT
41150
GTAATAATAA GTGTGTGTTA AGATTTGGTT ACTATAAACT ACTGATTTGT
41200
TAAAACTTGA GGAAATTACC ATAAAATGTC TACTGAATCA ATTTTTCCTG
41250
CATTTAGTCT TAATGTCAAT TCTGTA
C
ATT TCCTCTTTCA TTAAGAAAAA
41300 |
var(41277):[T:0.29]
TAGCAGT
G
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
41350 |
REPEAT
A
G
G
C
C
A
A
G
G
C
A
G
G
T
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
T
A
G
C
C
T
G
G
41400
C
C
A
A
C
A
T
G
G
G
A
A
A
C
C
C
T
G
T
C
T
T
T
A
T
A
A
A
A
A
A
T
A
T
A
A
A
A
A
T
T
G
G
C
C
A
G
G
T
G
41450
T
G
G
T
G
G
C
A
C
A
C
A
C
C
T
G
T
G
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
A
G
41500
A
T
C
G
C
T
T
G
A
G
T
T
C
A
A
G
A
G
T
T
T
C
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
T
A
A
T
C
C
T
G
C
C
A
T
41550
T
G
C
A
C
T
C
C
A
G
C
C
T
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
T
T
T
G
T
C
T
C
G
G
G
G
A
A
A
A
A
A
A
A
A
A
41600
A
A
A
A
A
A
A
G
G
A
T
A
A
T
G
G
T
G
G
C
C
A
G
C
C
A
T
A
T
G
A
C
A
T
G
T
A
C
C
T
G
T
A
G
T
C
C
G
A
G
41650 |
NOT SCANNED
|
REPEAT
T
T
A
C
T
A
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
A
A
G
G
A
T
T
G
C
A
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
G
41700
C
T
G
C
A
G
T
G
C
A
T
T
A
T
G
A
T
T
G
G
A
C
T
T
G
T
G
A
A
T
A
G
C
C
A
C
T
G
T
A
C
T
C
C
A
G
C
T
T
G
41750
G
C
A
A
C
A
T
A
G
C
A
A
G
A
T
C
C
T
G
C
T
C
T
C
T
T
A
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
G
A
41800
A
A
AGGAAAGA ATAATTGTTT ACTTCAAATA TTTATGAAAA AAACTCTGAA
41850
ATTTTTTTAA ATCAGGAAAT AAGGTAAATG AAATGATTTT TCAACTTTTG
41900
ATTATGAAAT GTCCAAACAG AAAACTTGCA AAAATGAACA CCCATATACT
41950
TAT
A
ACTTAT AGTCAACATC TAATTGTAAC TTTTTCATGC CTGGTTTTAG
42000 |
var(41954):[C:0.10]
736
A
A
T
C
T
T
G
A
T
T
G
G
A
G
T
T
G
G
T
T
A
A
C
A
G
A
A
T
G
A
G
T
T
G
T
C
A
C
T
T
G
T
T
C
A
C
T
G
T
C
42050 | Exon 21 |
UTR
N L D W S W L T E 745
C
C
C
A
A
A
C
C
T
A
T
G
G
A
A
G
T
T
G
T
T
G
C
T
A
T
A
C
A
T
G
T
T
G
G
A
A
A
T
G
T
G
T
T
T
T
T
C
C
C
42100
C
C
A
T
G
A
A
A
C
C
A
T
T
C
T
T
C
A
G
A
C
A
T
C
A
G
T
C
A
A
T
G
G
A
A
G
A
A
A
T
G
G
C
T
A
T
G
A
A
C
42150
A
G
A
A
A
C
T
A
C
A
T
T
T
C
T
A
C
T
A
T
G
A
T
C
A
G
A
A
G
A
A
C
A
T
G
A
T
T
T
T
A
C
A
A
G
T
A
T
A
A
42200
C
A
G
T
T
T
T
G
A
G
T
A
A
T
T
C
A
A
G
C
C
T
C
T
A
A
A
C
A
G
A
C
A
G
G
A
A
T
T
T
A
G
A
A
A
A
A
G
T
C
42250
A
A
T
G
T
A
C
T
T
G
T
T
T
G
A
A
T
A
T
T
T
G
T
T
T
T
A
A
T
A
C
C
A
C
A
G
C
T
A
T
T
T
A
G
A
A
G
C
A
T
42300
C
A
T
C
A
C
G
A
C
A
C
A
T
T
T
G
C
C
T
T
C
A
G
T
C
T
T
G
G
T
A
A
A
A
C
A
T
T
A
C
T
T
A
T
T
T
A
A
C
T
42350
G
A
T
T
A
A
A
A
A
T
A
C
C
T
T
C
T
A
T
G
T
A
T
T
A
G
T
G
T
C
A
A
C
T
T
T
T
A
A
C
T
T
T
T
G
G
G
C
G
T
42400 |
var(42399):[A:0.01]
A
A
G
A
C
C
A
A
A
T
G
T
A
G
T
T
T
T
G
T
A
T
A
C
A
G
A
G
A
A
G
A
A
A
A
C
C
T
C
A
A
G
T
A
A
T
A
G
G
C
42450
A
T
T
T
T
A
A
G
T
A
A
A
A
G
T
C
T
A
C
C
T
G
T
G
T
T
T
T
T
T
T
C
T
A
A
A
A
A
G
G
C
T
G
C
T
C
A
C
A
A
42500
G
T
T
C
T
A
T
T
T
C
T
T
G
A
A
G
A
A
T
A
A
A
T
T
C
T
A
C
C
T
C
C
T
T
G
T
G
T
T
G
C
A
C
T
G
A
A
C
A
G
42550
G
T
T
C
T
C
T
T
C
C
T
G
G
C
A
T
C
A
T
A
A
G
G
A
G
T
T
G
G
T
G
T
A
A
T
C
A
T
T
T
T
A
A
A
T
T
C
C
A
C
42600
T
G
A
A
A
A
T
T
T
A
A
C
A
G
T
A
T
C
C
C
C
T
T
C
T
C
A
T
C
G
A
A
G
G
G
A
T
T
G
T
G
T
A
T
C
T
G
T
G
C
42650
T
T
C
T
A
A
T
A
T
T
A
G
T
T
G
G
C
T
T
T
C
A
T
A
A
A
T
C
A
T
G
T
T
G
T
T
G
T
G
T
G
T
A
T
A
T
G
T
A
T
42700 |
var(42698):[:0.02]
T
T
A
A
G
A
T
G
T
A
C
A
T
T
T
A
A
T
A
A
T
A
T
C
A
A
A
G
A
G
A
A
G
A
T
G
C
C
T
G
T
T
A
A
T
T
T
A
T
A
42750
A
T
G
T
A
T
T
T
G
A
A
A
A
T
T
A
C
A
T
G
T
T
T
T
T
T
C
A
T
T
T
G
T
A
A
A
A
A
T
G
A
G
T
C
A
T
T
T
G
T
42800
T
T
A
A
A
C
A
A
T
C
T
T
T
C
A
T
G
T
C
T
T
G
T
C
A
T
A
C
A
A
A
T
T
T
A
T
A
A
A
G
G
T
C
T
G
C
A
C
T
C
42850 |
REPEAT
C
T
T
T
A
T
C
T
G
T
A
A
T
T
G
T
A
A
T
T
C
C
A
A
A
A
T
C
C
A
A
A
A
A
G
C
T
C
T
G
A
A
A
A
C
A
A
G
G
T
42900
T
T
C
C
A
T
A
A
G
C
T
T
G
G
T
G
A
C
A
A
A
A
T
T
C
A
T
T
T
G
C
T
T
G
C
A
A
T
C
T
A
A
T
C
T
G
A
A
C
T
42950
G
A
C
C
T
T
G
A
A
T
C
T
T
T
T
T
A
T
C
C
C
A
T
T
T
A
G
T
G
T
G
A
A
T
A
T
T
C
C
T
T
T
A
T
T
T
T
G
C
T
43000
G
C
T
T
G
A
T
G
A
T
G
A
G
A
G
G
G
A
G
G
G
C
T
G
C
T
G
C
C
A
C
A
G
A
C
T
G
T
G
G
T
G
A
G
G
G
C
T
G
G
43050
T
T
A
A
T
G
T
A
G
T
A
T
G
G
T
A
T
A
T
G
C
A
C
A
A
A
A
C
T
A
C
T
T
T
T
C
T
A
A
A
A
T
C
T
A
A
A
A
T
T
43100
T
C
A
T
A
A
T
T
C
T
G
A
A
A
C
A
A
C
T
T
G
C
C
C
C
A
A
G
G
G
T
T
T
C
A
G
A
G
A
A
A
G
G
A
C
T
G
T
G
G
43150
A
C
C
T
C
T
A
T
C
A
T
C
T
G
C
T
A
A
G
T
A
A
T
T
T
A
G
A
A
G
A
T
A
T
T
A
T
T
T
G
T
C
T
T
A
A
A
A
A
A
43200
T
G
T
G
A
A
A
T
G
C
T
T
T
T
A
T
A
T
T
C
T
A
A
T
A
G
T
T
T
T
T
C
A
C
T
T
T
G
T
G
T
A
T
T
A
A
A
T
G
G
43250
T
T
T
T
T
A
A
A
T
T
A
CTTTCTTGA TCTCTATTCA TTATAAAAAT CAGATTATAA
43300
TAAAACAGTT GAATATGGCT TAGGAAAATA TGAAGGTTCC ATGAAGTGGA
43350
ATTAAGAGCA TAGAATAACT GTACTTTCCT TAGGAATAAT AGGACTTATG
43400
GTAAAGGTAG TATTGGGCAA CTTCTTTAAG AGTGTTTTCC TCTGAGATGT
43450
CCTATCACCA CTATCTACAT CTAAAAAACA TGCTCGATTC TTGCCCTATA
43500
AACTGATGTC ACAGCCCCAC CATCCCCATT TTTGCTAGTG GTATCATTTT
43550
CCTAGTCAAC CAAATTTTTT AGTCATCACA TATCACTGTT CGTCATCTAT
43600
TATAATAGGC AGTCTCTCTC TTGTTTCCCT GGTTTTAGAA GATTTTA
G
TA
43650 |
var(43648):[A:0.31]
ATAAACATTT ATTGGGTACC TGTTACTTGG AGGGTATTAA GCTAGATGGC
43700
AAGATCTGAA ACAACATAGG CAGTATAGTA AAAGTGCTTA TCTGGGAGTC
43750
TGAACATTAC AAGCCATCCA AGCATTGCAA TTATTGTTAA GGATTATTTT
43800
CAATGGTCAT GCATTTTCTA ATATTTTAAT AATTGGTTAA AGATTTGTTA
43850
TAGCGTGGGG GCCGCTGCTG GTGTGTGGCT GGGGTTATGT CAGGGCAGCC
43900
TGATCTATAT AATTTGGGCA GATGGTGTGA GTCAGAACAG ACTATTATAG
43950
TGGGATCCCC AAACTTGCTT TTGATGCATG AGTTGGACCA CTATTTTTTG
44000
GTGGGTAACA ACTTTTCAGA GGGGAATGGC AGTTGTGAAT TGTATACATT
44050
TCATTCTTTA AGCAATATTA TGAAAAACTT CAGAGAATGT CTACAGAAAA
44100
CAGGGTATGG AGCAAGTTAT TTTCCATTCT TTTTGCTTTT TGGAAGTTAA
44150
AATAGCTAAG CTCTGCAAAT ATCATTTATT TGGAACAGAT AAGGTCCCAG
44200
ACATTCCTAG ATAATAAAAA TCAAATGAAT GATACAGGTA AGTGTATTTA
44250
TTGAAGGGTG TGGGTAGAGT GGTCTGGGAA GTCTTGCTTT AATGAAGACG
44300
GATTGATTCT ATTTACCTCT TCTTACTTCC ACTACTAAGT AACCCTGGGC
44350
CTGCAGTTTC CTAACCACTT GACTTCCTTG CCAACAGTCT GTCTCCACTT
44400
TCAGCCGTTT TATAGATTCA TTGGCCCTAA AGCACTGCTT TCCCATACTT
44450
CCCTACCCAA GAGGG
C
A
G
G
G
G
T
C
C
C
C
A
A
G
C
C
C
T
G
G
G
C
C
G
C
G
G
A
C
C
G
G
A
A
C
44500 |
REPEAT
C
A
G
A
C
A
G
T
G
G
C
C
T
G
T
T
A
G
G
A
A
C
C
A
A
G
C
C
G
G
A
T
A
G
C
A
G
G
A
G
G
T
G
A
G
C
G
G
C
G
44550
G
G
C
G
A
G
T
G
A
G
C
A
T
T
A
T
C
G
C
C
T
T
G
A
G
C
T
C
T
G
C
C
T
G
C
T
G
T
C
A
G
A
T
T
A
G
C
G
A
G
44600
T
G
G
C
A
T
C
A
G
A
T
T
C
T
C
A
T
A
G
G
C
A
C
G
C
G
A
A
C
C
C
T
A
T
T
G
T
G
A
A
C
T
G
C
A
C
A
T
G
T
44650
G
A
G
G
T
T
T
G
C
C
G
G
C
T
C
C
C
T
G
T
G
A
G
A
A
T
C
T
A
A
T
G
C
C
T
G
A
T
G
A
T
C
T
G
A
A
G
T
G
G
44700
A
A
C
A
G
T
T
T
C
A
T
C
C
C
C
A
A
C
C
C
A
C
A
C
A
C
A
C
C
C
C
C
A
C
C
C
C
G
T
C
C
G
CTGGGTTA
44750
GAGGACTTTA CAACCCTAGT CCACCTTGTC CAGTTATAGT TCCACCTCTA
44800
GCCTTTCAAG GCTTAAACCA TTAATGTCCT TAATTTCTCT TGTATTCATC
44850
TATCTCCCAA CTATACCTTT TTCCTTCCCT TTTTTATTTT TGGCAATATG
44900
TGCCCATGGT TTTTTAATTT AAAACGAACA GAATATGTA
G
TGACGCCTAC
44950 |
var(44940):[A:0.11]
CA
T
AGCACTC CTTCCCATCA CACAAGCCTT CAAGGAAACT GAAGTACTTA
45000 |
var(44953):[C:0.06]
CTTTGGTCTC CCTGGAGGAT TCCCTCCGCC TCCCGCCCCA TGTGCTTAGC
45050
AATTCTGTTC CTGTAGTCTG GATGGCCTTC ATAAAGCCCT CACTGGACCA
45100
GCATTCTGGC ACATAATAGG AACACTTAAA AAACGAGAGA ATGATGCCGT
45150
TATATCTAAT ATCTTCCTCT TCTGAACTTT CACAG