OTUD4 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
AAAGAATTGG GAGCTAGCTA GAAGGAAGCA TTGGATAAGA AATAGTTGTT
50
TCA
G
G
C
T
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
T
G
T
A
A
T
C
C
C
A
G
C
A
C
A
T
T
G
G
G
A
100 |
REPEAT
G
G
T
C
G
A
G
G
T
G
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
150
A
G
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
A
G
C
G
C
C
200
G
T
G
G
T
A
G
T
T
G
G
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
A
G
A
T
250
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
A
A
G
G
T
T
G
C
A
G
A
G
A
G
C
C
A
A
G
C
T
T
G
C
G
C
C
A
C
T
G
300
C
A
C
T
C
T
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
A
G
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
350
A
A
A
TAGTTGT TTCAATTCAC AGCTTTAGAA TTTTGGTAAA AGACCACATG
400
CCAGTAAGTT ATCTTTTTGT TGAACTGGTT GTTTAATAGA AGAAAATGTA
450
AACTGCAGAG TGAGAGGATC TGGATCATAC TTTGTAGGTT GGTACTTTAC
500
AATTTAGGGC ATAAAAACAA ACCCCAAACC TCTTGGGATG ATACCACACA
550
ACATTTTTGC ACCCCCTATG CTGCCTAC
T
T TGGATGTTCT TTCTTGTCTT
600 |
var(579):[:0.52]
ATAAGCTTGA TCACCAAGGA AAGAATGAGT GCCTTAATTT TTCTGAAACC
650
ATAGTGGACT TAAATTTTTA CACAGAGCCT CTAAGTGGAT TCAGAATTAA
700
TGGGAAAAAT AAATCGGCCT CTTACAGGCT GAAAGCCTCA AAATACATTC
750
CTACAGAAGT TGCCAGTTTG TCTTTTTCAA TATGTATAGG ATGAAGTTGA
800
GCGTGGCGTA GCATGGATTT TGTTAGCTCT TCTTTGTGAA GAGTAAAGTT
850
ATTGTGGAGG GAAGGCCAAG GGAAGAGAGT GTCCTAAATT TACAAAAATG
900
TCCTAAAGGA GAAAGGCTAA TAAATTCTTT ACAAATTTGG CTTAAGAAGT
950
AGTATTGTTT GTATATGTCA TGTCTTCGCT GTGCTTAGTT AGAAGAAGAG
1000
GTAGGAATGA GTAAAGATAT CGAAATTATA GAAAGGGAAA TGGAGAAAGA
1050
CTGATAATCT ATTGGTTGTC AGATTATTTT GGGTGTAAAA GAAGACATTA
1100
GGTTGTAACT TTTAACTAAA TGCTTAATAG TGTGTTTGTT GCCTTTTCTT
1150
TTTAG
G
T
A
T
T
G
C
A
C
T
C
T
C
A
G
T
C
T
C
G
C
C
A
T
G
T
T
G
A
A
G
T
C
A
G
A
A
T
G
G
C
C
T
G
T
1200 | Exon 1 |
UTR
M A C 3
A
T
T
C
A
C
T
A
T
C
T
T
C
G
A
G
A
G
A
A
C
A
G
A
G
A
G
A
A
A
T
T
T
G
A
A
G
C
G
G TAACTTGTAA
1250
I H Y L R E N R E K F E A 16
TTTCAAACAT GTAATGGTGT CTTGACTTGG TTTTACATTT TGGCTTTTAG
1300
AAGTGTTCTA GTAGAATTTC ACAGGCTGGA TCTTAATGCG GGTTATGAAA
1350
ATAACACTTA TTAAAAAAAC TTCTCTATTG AA
C
TTAATCT AGTTATATTC
1400 |
var(1383):[G:0.04]
AGTTATGTTG TTTTCTAGGC TATTTTATGT TTTGCATTTA TTTGGACATT
1450
TAGAAAGCTA CTATGATGGA TAAGACGCTG AGCTGTGGGG GATGGAAAGA
1500
TGACCTGGAC AAGGCCCTTG CAT
A
CTAAGA GTGGGCTTTG TCTGACATGG
1550 |
var(1524):[G:0.02]
TCAGGGAATT GGGGGTGTTG TGATTAATAG TGGTTTCTGT GATGGGTAAC
1600
TCCCTATAAA TTAAAAGAAA AAAAATTCAG T
C
T
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
A
1650 |
REPEAT
C
C
T
G
T
A
A
T
C
C
C
A
G
T
A
C
T
T
T
G
G
G
A
G
G
T
G
A
A
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
T
T
G
G
C
C
1700
A
A
C
A
T
G
G
C
A
A
A
A
C
T
C
T
G
T
G
T
C
T
A
C
T
A
A
A
A
G
T
A
G
T
G
G
C
A
T
G
G
T
G
G
C
A
C
A
T
G
1750
C
C
T
G
A
G
T
C
C
C
A
G
C
T
A
C
T
C
T
T
G
A
G
T
C
T
G
A
G
G
C
A
C
G
A
G
G
A
T
T
G
C
T
C
G
A
A
C
C
C
1800
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
T
T
G
C
G
C
C
G
C
T
G
C
A
C
C
A
C
A
G
C
C
T
G
1850
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
TTCAGAC
1900
TTGCAGTGTA AAAAATACGC TGAGTGTAAG TAATGCTGAA CCCTTAATTT
1950
TATCAGAAGG CATTCATAGG TTTTTAATTT TCAGGGTTCA GTGTGAACTC
2000
ACATGTCAGA ACATTATAAT TATGTAAGTA GTGATTAATA GTTAATAAAA
2050
TGTTGTATAA CAGCTTAATA TAATTTTCTC AGTAGTATGT GAAATAAGAT
2100
GCCACAGTGA CCTGTTTTCA TTTTACATTC AAAGTCTTAC AGGATTTATT
2150
ACTTACTGGT TTTAAGACCT AGAATTATGT AATCT
G
A
C
A
A
C
T
T
T
G
G
G
T
G
T
2200 |
NOT SCANNED
T
A
T
T
T
C
C
C
C
C
A
G
T
T
G
A
C
T
G
G
T
A
G
A
G
A
A
T
G
T
T
G
A
T
A
T
A
A
T
A
C
T
T
T
G
C
A
A
A
T
2250
G
A
T
A
G
G
C
T
T
G
A
A
A
C
C
T
T
G
T
T
T
T
A
T
T
A
A
A
A
A
A
A
C
C
T
G
G
T
A
A
C
G
C
A
G
A
G
G
C
T
2300
A
G
A
T
A
A
G
A
G
A
G
T
G
C
A
G
A
G
G
T
G
T
G
G
T
A
G
A
G
A
A
G
G
G
A
A
G
T
G
G
G
G
A
G
G
T
G
G
A
A
2350
T
G
G
T
C
T
T
T
A
A
A
T
T
A
A
T
T
C
T
T
A
T
T
A
A
T
C
A
T
T
G
G
C
C
C
C
A
G
A
G
G
G
T
A
A
A
A
C
T
G
2400
T
G
T
T
G
A
T
A
A
T
A
A
T
G
G
A
C
A
T
T
G
C
T
A
A
C
A
T
T
G
G
T
T
G
A
G
G
T
G
C
T
T
A
C
T
A
T
A
T
G
2450 |
REPEAT
C
C
A
G
G
C
A
T
T
A
A
G
T
G
T
T
T
T
G
C
A
T
A
T
A
T
T
T
T
T
T
T
T
A
G
T
C
C
A
T
A
T
A
A
T
T
T
T
T
T
2500 |
REPEAT
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
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
G
G
C
G
2550
C
C
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
T
G
C
C
A
T
T
C
T
C
C
T
2600
G
C
C
T
C
A
G
C
C
T
C
C
A
G
T
G
T
A
G
C
T
G
G
G
T
C
T
A
C
A
G
G
T
G
C
C
T
G
G
C
A
C
C
A
T
C
A
C
G
C
2650
C
A
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
A
G
C
2700
T
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
A
T
G
C
T
C
T
G
C
C
T
G
C
C
C
C
G
G
C
C
T
C
C
C
2750
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
G
T
G
C
C
T
G
G
C
C
T
T
A
G
T
C
C
A
T
A
2800
T
A
A
T
T
T
T
A
T
G
A
G
G
T
A
T
G
A
T
C
A
G
A
G
G
T
T
G
A
A
A
G
T
T
C
C
A
T
G
G
G
G
A
A
A
A
G
T
T
T
2850 |
REPEAT
C
A
C
T
T
T
C
C
T
T
T
T
A
T
G
A
A
C
C
T
T
C
A
A
G
C
A
G
T
T
T
C
A
G
T
T
G
T
C
C
A
G
A
A
T
T
G
G
A
A
2900
A
G
A
G
A
T
G
T
T
G
T
A
G
A
A
A
G
T
A
T
T
A
T
G
C
C
T
T
G
T
T
A
C
T
G
A
C
A
T
T
G
T
T
C
A
G
C
C
A
T
2950
G
G
C
A
T
A
G
G
T
G
G
A
C
G
C
T
T
T
C
T
G
C
T
C
A
G
A
A
A
G
G
A
G
A
C
T
C
T
C
A
G
A
G
A
G
G
A
T
G
C
3000
A
G
G
C
T
T
G
T
G
T
C
A
G
A
A
T
T
C
T
G
C
A
G
T
C
T
C
T
A
G
T
A
A
C
T
T
T
A
A
A
T
G
G
T
T
C
T
G
T
G
3050
T
T
T
T
T
T
T
T
T
T
C
C
T
T
A
G
A
C
C
T
A
T
A
A
T
C
A
T
C
T
A
A
T
A
C
A
G
A
A
C
A
G
T
A
G
C
C
C
T
T
3100
T
A
T
T
G
G
T
G
G
G
C
T
C
T
T
T
A
A
T
A
T
A
T
A
T
G
G
C
T
C
T
T
T
T
A
T
T
A
T
A
A
A
T
A
T
C
T
T
T
C
3150
G
A
A
A
T
T
T
A
A
G
A
T
A
T
T
T
T
T
G
G
C
A
A
T
T
T
G
A
C
A
T
T
A
T
A
T
A
A
T
C
T
A
T
G
A
A
A
G
A
A
3200
T
C
T
C
A
A
T
C
T
T
A
A
A
A
T
C
C
A
A
G
G
G
T
G
C
T
T
A
A
A
A
G
A
T
T
T
T
A
T
A
G
A
C
A
A
G
G
G
A
G
3250
T
A
T
A
C
T
T
T
A
A
T
G
T
C
T
T
T
A
A
G
T
A
T
A
T
C
T
C
T
G
C
T
A
A
A
T
C
A
A
C
T
G
G
G
A
C
T
G
T
A
3300
A
T
T
T
A
A
A
C
G
C
A
A
T
T
G
A
A
T
T
T
G
G
T
G
G
T
T
C
A
A
C
A
A
A
T
G
A
C
T
T
T
T
A
G
A
G
A
T
T
T
3350
C
T
C
A
A
A
T
G
A
G
T
G
C
G
A
T
T
G
C
T
A
T
T
A
A
A
G
A
A
A
C
A
T
A
A
A
A
A
A
G
G
T
T
G
T
G
T
T
A
T
3400
T
A
C
A
C
A
G
C
T
T
G
A
A
T
A
A
A
C
T
G
T
T
T
T
T
A
T
G
T
C
A
A
A
G
T
A
A
C
A
A
T
G
A
A
G
C
G
A
T
G
3450
A
A
G
C
A
A
G
C
T
G
T
A
T
T
A
G
A
A
A
A
A
T
T
T
T
G
T
T
G
A
T
G
C
T
T
C
A
A
A
A
T
A
T
T
T
T
T
C
G
C
3500
C
T
T
A
C
T
A
G
T
T
C
T
C
A
T
C
G
C
T
C
T
T
T
C
T
A
G
T
A
T
C
A
C
T
T
G
A
G
A
G
A
C
A
A
T
G
A
G
T
A
3550
C
T
C
T
T
A
T
C
T
G
T
A
T
T
A
T
T
A
A
G
C
T
A
T
A
C
T
A
T
T
T
C
T
T
A
G
C
T
T
G
T
A
A
G
T
C
A
G
T
C
3600
T
T
T
G
T
T
T
T
A
T TCCCTTCTAC ACACTGGTCA CTACCAAGTT AAAGCACTGC
3650
TTTCATCATA TAATTTCTCA GTTCAGAATG TCACCTGAAG TGGCCTTGAA
3700
TGGCCTTTCT CATCTAGCCT TCAAGTCCTG CCTGGGCTCA AGGCCCTCTG
3750
TAAACAGGCC CCCCTTTGGG TTCTTCTCCC ACTCAGTTCC ACAACAGGTT
3800
GTCCTGCTCC AGCTGGCCAG ATTGCTTGTC TTCCCAACAC AGTGTTCCTC
3850
TTCCTCCTCA CGCCACATTG GCCCTCTCTG TAGAGTATCA GCTGCCTGTT
3900
GCCATCCAGA TCCTGTCCAG CATTCATCTT GAGTCACTCT TCTTTCAGGA
3950
AACCTTTCCT GACAGAATTT CCTTCTTTAA ATTCTTTTGT ATGTTTATAG
4000
TCTTTAATGA TTGCTATATG TTTTCATAAT TAGATTATGT ACATATTTTT
4050
AAATAATACT GAGGTATTTT AGGTTTATGT ACAAACTCAG TAATTCACAG
4100
TGAATGTTTA CACAGCGAAG CGGTTAACTG TTTTGGCATA TATGTTAGAT
4150
GACATTTCTA ATAGATTTAT TTTTTGCAG
T
T
T
A
T
A
G
A
A
G
G
A
T
C
A
T
T
T
G
A
A
4200 | Exon 2
F I E G S F E 23
G
A
A
T
A
T
T
T
A
A
A
G
C
G
T
T
T
G
G
A
A
A
A
T
C
C
A
C
A
G
GTATGTCACA GTCTTCTAGT
4250
E Y L K R L E N P Q 33
ATATTTCTAT TTTTATATAT CCAAATAATG TATTTAAAAT TCATTAAAAT
4300
AGAAGATTAC TATTACAGTG TATAGAGGAG TTGCAGTGAC GGTGTATCCT
4350
ATTTCCTTAT AAACGTTTCC TACACATTTT ATGCAGCACT TAAGTTGGAG
4400
CTATATGTTA GAGGTTGCCT CACTAAGGCA GAGTTGTG
A
T ATTTTATCTT
4450 |
var(4439):[C:0.04]
GGCTATAATG GCATGTAAAT GTAGTATAAA AATCTGAAAT AATACTGGGG
4500
TGATGATTTT CAGAATGCTA CGTTGGTGTG TGTATGGAAC TTGGACAGGG
4550
TGAAGTTTGA
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
G
T
G
G
A
A
T
T
T
A
A
C
T
C
C
A
T
T
4600 |
REPEAT
|
var(4583):[C:0.01]
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
T
G
G
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
C
G
C
C
T
C
4650
C
C
G
A
G
T
T
C
A
A
G
C
G
A
T
T
T
G
T
C
T
C
C
C
G
A
G
T
A
T
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
T
G
C
A
C
4700
C
A
C
C
A
T
G
T
C
C
A
G
C
T
A
A
T
T
T
T
T
T
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
4750
T
A
T
T
G
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
T
C
G
A
C
C
T
C
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
A
4800
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
C
TGC
4850
AGAGTTTTTC TTCCTAGGCA ACTGAGAAGG CAGAGTTCTT TCATGCAGGT
4900
TCCTATTTCC ATGATCATCT CGTGAAGAGG GAAGAGACTG TTGAGACAGA
4950
AAAGGATAGC ACTTACTCAC CAACTCCTGC TGCTATACTT TTTCAGTCAT
5000
GTTTATGTTA AAAGGATTTT TCTTAATTTT TCTGTTTACA AAACTAACGT
5050
TCTCACTGTA AAAATCC
A
AG TATCTTGGAA TGCCATTTAG AATGTTAAGG
5100 |
var(5068):[C:0.01]
TAAAAATAAC ATTGGCAAAG AAAAAAGCTA AGAAGAGTTA AGGAGTAAAG
5150
GGAATGTAAT GTAGGAACCA AGGGTGTTTG ATCGATGACT GATGTATCCA
5200
TTTGGTTGCC TAACACTAAT
T
T
G
A
G
T
G
C
T
T
G
T
T
A
T
G
G
G
C
C
A
A
G
A
A
T
T
C
C
T
5250 |
REPEAT
A
G
T
C
A
C
C
C
T
G
G
G
G
A
T
G
C
A
G
A
G
A
T
A
A
T
G
T
A
G
A
T
A
A
C
A
A
A
A
A
A
G
T
T
T
C
C
C
T
A
5300
T
C
ATAGGAAA GAAGGTCAAT ACAAGCT
A
G
A
A
A
A
G
G
A
G
A
T
T
T
G
T
C
A
C
A
A
G
A
5350 |
NOT SCANNED
G
G
T
A
T
A
T
A
G
C
T
G
T
G
A
T
G
C
T
G
T
A
G
G
C
A
T
T
C
A
A
A
G
T
G
T
T
A
T
T
T
C
T
A
G
C
T
G
G
G
5400
T
A
G
A
C
A
A
A
G
C
A
A
C
A
C
T
T
G
G
A
G
A
G
T
G
A
G
T
T
G
T
A
T
T
T
G
A
A
G
T
C
T
G
A
A
T
G
G
A
T
5450
T
C
T
A
A
A
T
A
G
G
A
A
A
T
G
C
C
T
G
G
G
C
T
G
A
A
G
G
G
C
A
T
T
C
C
A
G
G
C
A
G
T
G
A
A
A
A
C
T
G
5500
T
G
A
G
C
A
A
A
G
C
A
G
A
T
T
C
A
G
A
A
A
A
C
A
G
T
T
C
C
A
A
T
T
G
T
G
T
G
G
A
G
C
A
T
T
G
A
G
T
A
5550
T
G
T
G
A
A
G
A
T
A
A
G
A
A
G
T
G
G
T
G
A
G
A
A
A
G
G
A
G
T
T
G
G
A
A
G
G
C
A
G
G
T
T
G
G
G
G
C
C
A
5600
G
A
C
T
G
T
G
G
G
A
G
A
G
C
C
T
T
C
A
G
T
G
T
T
A
G
G
G
T
C
A
G
T
G
G
T
T
T
G
G
A
G
C
T
T
A
T
G
C
T
5650
T
T
A
G
A
C
C
C
G
T
G
T
T
T
C
T
C
A
A
A
G
T
G
T
G
A
T
C
T
G
T
A
G
G
T
T
A
T
C
T
G
T
A
T
C
A
A
A
A
T
5700 |
REPEAT
C
A
C
T
T
G
A
T
G
T
G
C
A
T
G
T
G
A
A
A
A
T
G
C
A
G
A
T
T
C
C
C
T
G
G
C
C
C
C
T
A
T
T
C
C
A
T
A
C
C
5750
T
G
A
A
T
C
A
G
G
G
C
C
T
C
T
G
G
G
C
C
T
G
G
G
G
C
C
T
A
G
G
C
A
T
C
A
G
G
C
A
T
T
G
G
G
A
A
A
C
C
5800
A
T
A
T
A
A
G
G
T
T
T
T
T
G
G
G
G
C
A
G
G
A
A
G
T
C
A
G
A
G
T
A
G
T
G
G
T
T
A
T
C
C
T
A
T
C
T
A
A
A
5850 |
REPEAT
A
T
T
G
T
A
A
T
T
C
T
C
A
G
C
T
T
C
C
A
T
C
A
C
T
T
T
C
C
C
T
G
T
A
C
C
C
C
T
C
T
C
T
G
C
T
T
T
A
T
5900
T
T
T
T
C
T
C
T
G
T
A
G
T
G
C
T
T
A
T
A
T
C
A
T
T
T
A
A
T
G
T
A
C
T
G
T
G
T
A
C
T
T
T
G
T
C
A
T
C
T
5950
T
C
C
T
A
C
T
T
G
A
A
T
T
A
A
G
C
T
C
C
A
T
G
A
A
C
A
C
A
G
A
G
T
T
C
T
G
T
A
T
G
C
T
T
T
A
T
T
C
A
6000
C
T
G
C
T
G
T
G
T
T
C
C
A
G
T
T
C
T
G
A
G
G
G
A
T
T
T
T
G
T
T
G
A
C
T
G
A
A
G
G
G
T
T
G
G
A
T
G
G
C
6050
A
T
C
T
T
C
T
G
A
C
A
G
T
T
G
T
T
T
C
T
T
T
T
T
T
G
T
T
A
C
T
A
G
C
A
A
C
A
A
A
T
A
T
T
T
A
T
A
A
A
6100
T
C
T
T
C
A
T
T
C
T
T
A
T
T
T
T
T
T
T
G
C
T
T
T
C
C
T
G
G
G
C
T
G
G
G
C
A
C
A
A
T
G
G
C
T
C
G
T
G
C
6150 |
REPEAT
C
T
G
T
A
A
T
C
C
C
G
G
T
A
C
T
A
T
A
G
G
A
G
G
C
A
G
A
G
G
C
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
6200
A
G
G
A
G
T
T
C
A
A
G
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
C
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
T
T
6250
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
T
G
T
G
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
T
T
C
A
G
G
A
G
G
C
C
A
A
6300
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
T
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
6350
T
T
G
T
G
C
C
G
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
G
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
6400
A
A
A
T
A
A
A
T
A
A
A
T
A
T
A
T
T
T
T
T
T
T
G
C
C
T
T
C
C
T
A
A
T
A
T
A
T
G
G
C
T
G
T
A
T
A
A
A
A
T
6450
G
G
A
A
A
C
A
G
A
A
A
C
C
A
T
T
T
G
G
C
A
G
A
T
A
T
T
T
G
A
T
G
G
A
T
A
A
A
C
T
C
A
G
T
T
G
C
T
T
C
6500
A
T
C
C
A
G
T
T
C
T
C
A
G
A
G
A
A
A
G
C
A
T
C
T
T
T
A
T
C
C
T
C
T
T
A
A
T
G
A
G
T
A
A
T
A
G
T
G
G
A
6550
G
C
A
T
T
T
T
G
A
A
G
G
T
A
C
T
T
C
A
A
A
C
T
T
G
T
G
C
G
A
G
A
A
T
A
T
G
T
T
T
T
T
G
T
C
A
G
C
T
T
6600 |
REPEAT
T
G
A
G
G
T
A
A
A
A
T
T
G
A
C
A
T
A
C
A
G
T
G
A
A
A
T
T
C
A
T
C
A
C
T
T
A
T
A
A
A
T
A
T
A
C
A
A
T
T
6650
T
G
A
T
G
A
G
A
T
T
T
G
A
C
A
A
G
T
G
T
A
T
A
T
G
C
T
C
A
T
G
T
A
A
C
C
A
C
C
A
C
A
G
C
A
A
A
C
A
T
6700
C
A
T
A
A
A
G
G
A
C
A
T
T
T
C
C
A
T
C
T
C
T
C
C
A
G
A
A
A
G
T
T
T
C
C
T
T
T
T
G
C
C
T
T
T
T
T
G
C
A
6750
G
T
T
A
A
T
C
C
T
C
T
T
C
C
G
C
C
T
A
T
C
C
C
C
T
G
G
G
A
C
C
T
G
G
C
A
A
G
C
A
C
T
G
A
T
T
T
G
C
T
6800
T
T
C
T
A
A
G
T
T
T
T
G
C
T
G
T
T
T
C
T
A
G
A
T
G
C
A
T
A
T
A
A
G
T
G
G
A
A
T
G
A
T
A
G
A
G
T
T
T
G
6850
T
A
G
T
C
T
T
A
T
G
T
A
T
T
T
G
G
C
T
T
C
T
T
T
C
A
C
T
T
A
G
C
C
T
A
T
T
G
G
A
A
A
T
A
C
T
A
A
A
A
6900
T
T
C
A
T
T
C
A
T
G
C
G
T
T
T
A
G
C
A
G
T
A
G
T
T
C
C
T
T
T
T
T
A
T
T
G
A
A
G
A
A
A
A
A
T
A
A
T
C
T
6950
G
T
G
T
A
T
G
T
A
T
C
T
A
T
C
A
C
A
A
C
C
T
G
T
G
T
A
T
A
C
A
T
T
T
A
C
C
A
G
C
T
G
A
T
T
G
A
T
A
T
7000
T
T
A
A
G
T
T
C
T
T
T
A
C
A
G
T
T
C
T
G
G
G
T
T
G
T
T
A
A
A
A
T
T
G
A
A
G
C
T
G
C
T
G
T
G
A
A
C
A
A
7050
T
T
G
C
T
T
A
T
A
A
A
T
C
T
T
T
G
T
G
T
A
G
A
C
A
T
G
T
G
T
T
T
T
C
T
T
T
T
T
T
C
T
T
G
G
A
T
T
A
A
7100
T
A
C
C
T
T
A
G
A
G
C
A
A
A
A
T
T
G
C
T
T
G
G
T
C
A
T
C
T
G
G
T
A
A
A
C
A
T
A
T
T
T
T
T
A
A
G
A
A
A
7150
C
T
G
C
C
A
A
A
C
T
T
T
T
T
G
A
A
G
T
G
A
C
T
G
T
A
C
C
A
T
T
T
T
G
C
T
T
T
C
T
C
A
T
C
A
G
C
A
A
T
7200
A
T
T
A
T
G
A
G
A
A
T
T
T
C
A
G
T
T
T
C
T
C
C
A
C
A
T
A
T
T
T
G
C
C
A
G
C
A
C
T
C
T
T
T
G
T
G
A
T
T
7250
T
A
A
C
T
T
G
A
A
T
T
T
C
T
C
T
A
A
T
G
A
T
G
T
T
G
A
G
C
A
T
C
T
T
T
T
C
A
T
G
T
G
C
T
T
A
T
T
T
G
7300
T
C
A
T
C
T
A
T
C
T
A
A
T
T
T
T
G
T
T
G
G
T
G
A
A
A
T
G
T
C
T
G
T
T
C
A
T
A
G
G
T
T
T
T
T
G
C
C
C
A
7350
T
T
T
T
T
T
A
A
T
T
G
C
T
G
T
T
G
T
T
C
T
T
A
C
T
G
A
A
T
T
T
T
A
C
T
A
G
T
T
C
T
T
T
A
T
A
C
T
G
G
7400
A
T
A
T
A
A
G
T
C
C
T
G
T
A
T
T
G
G
A
T
A
T
G
T
G
T
T
C
T
A
C
A
A
A
T
A
C
A
T
T
C
T
T
C
T
A
G
T
T
T
7450
G
T
A
T
T
T
T
G
G
C
T
T
T
C
C
A
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
T
T
T
T
T
T
A
T
T
T
T
A
7500 |
REPEAT
T
T
T
A
T
T
T
A
T
T
A
T
T
T
T
T
T
T
T
T
G
A
G
G
C
A
G
A
G
T
T
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
7550
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
A
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
A
G
T
T
7600
C
A
A
G
T
G
A
T
T
C
C
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
A
G
A
A
T
A
G
T
T
G
G
G
A
T
C
A
C
A
A
G
C
T
T
G
7650 |
REPEAT
G
C
T
T
T
T
C
A
T
T
T
T
C
T
T
A
A
C
A
A
T
G
T
C
T
T
T
T
G
A
G
G
A
A
C
A
A
G
A
G
C
T
T
A
A
T
A
C
T
G
7700
A
T
G
A
C
T
A
A
G
A
A
C
A
T
T
T
A
A
G
T
T
A
T
G
T
A
A
T
T
T
T
G
T
T
A
T
A
G
T
A
T
G
G
T
T
A
A
T
T
A
7750
G
T
T
A
A
A
A
C
A
T
A
T
T
T
T
G
A
A
G
G
A
A
T
T
C
T
T
T
T
T
A
C
A
A
G
A
A
A
G
A
T
A
T
A
T
G
T
C
A
C
7800
A
C
A
T
C
A
T
A
A
A
A
A
A
T
G
C
T
G
A
T
T
A
A
G
T
A
A
A
A
T
T
A
C
A
G
T
G
T
T
A
G
A
A
G
A
C
A
G
T
G
7850
G
T
A
G
T
A
T
A
A
T
A
T
C
G
A
T
T
T
T
T
T
T
T
T
T
A
A
A
T
A
A
T
T
T
A
A
T
A
C
T
G
A
C
A
C
T
G
C
T
T
7900
G
G
G
G
A
A
G
A
T
T
T
T
A
G
G
A
T
A
T
C
C
A
T
T
G
T
T
T
A
C
C
T
A
A
C
C
A
G
A
C
T
A
C
A
A
A
A
G
A
A
7950
T
T
T
A
T
T
C
T
G
A
A
G
G
T
T
A
C
G
T
A
T
C
A
A
A
A
A
G
T
A
C
A
T
T
A
T
T
C
T
C
A
T
G
T
A
G
C
A
T
T
8000
T
T
G
T
T
G
A
G
A
T
G
G
A
T
A
G
A
A
T
T
T
T
T
C
A
T
T
T
T
T
A
A
T
T
T
T
T
T
T
T
A
G
A
G
A
T
G
G
A
G
8050 |
REPEAT
T
T
T
C
A
C
T
C
T
T
A
A
T
A
C
G
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
T
G
T
A
A
T
C
T
C
A
G
C
T
C
A
C
8100
T
G
C
A
A
C
C
T
C
T
G
C
T
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
T
G
8150
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
C
C
A
C
C
A
C
C
A
C
G
C
C
T
G
G
C
C
A
A
T
T
T
T
T
G
T
A
T
8200
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
G
T
G
G
T
C
C
T
G
A
A
C
T
8250
C
C
T
G
A
C
C
T
C
A
G
G
T
A
A
T
C
C
A
C
C
C
T
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
8300
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
T
G
G
C
A
G
A
A
T
T
T
T
T
C
A
T
T
T
T
T
T
A
A
A
G
T
G
A
T
G
8350
T
A
A
T
A
C
T
T
C
T
T
G
T
A
T
A
A
A
A
A
T
T
A
G
A
A
A
T
G
T
A
G
C
T
C
G
T
G
T
G
T
T
T
G
A
T
C
T
A
A
8400
A
C
A
G
A
C
T
C
A
T
A
T
C
A
G
T
G
A
A
C
G
G
T
T
T
C
C
T
C
T
A
C
A
C
C
A
G
A
G
G
G
T
A
T
C
A
C
T
T
C
8450
T
A
G
C
A
G
T
T
T
G
T
G
A
G
A
A
G
C
C
A
T
G
A
T
T
G
T
T
A
G
G
C
T
G
A
G
G
C
T
T
A
T
T
T
T
A
A
G
A
G
8500
A
T
C
T
A
T
T
T
T
A
A
T
A
T
A
T
G
G
C
A
C
C
T
A
T
T
T
C
A
T
T
T
T
G
A
A
A
A
T
C
A
G
A
G
C
T
A
A
C
T
8550
T
T
T
A
A
G
A
A
C
T
A
T
T
G
A
A
A
A
G
T
C
T
C
T
G
A
G
G
G
A
A
A
A
G
A
T
T
G
T
G
C
T
G
G
T
C
T
A
A
G
8600
A
T
C
A
A
A
A
C
A
T
T
G
T
T
T
A
A
A
A
T
A
T
T
T
T
C
C
T
T
A
T
T
T
C
A
G
T
T
T
T
T
C
T
T
T
C
C
T
T
T
8650
C
A
A
G
G
A
A
T
A
A
G
T
G
G
C
A
G
C
A
T
T
C
A
T
T
T
A
C
C
A
A
A
G
C
T
C
A
T
T
G
T
T
T
T
T
G
G
T
G
A
8700
C
T
T
A
A
T
G
T
A
T
T
A
A
G
T
C
T
T
T
A
C
C
G
A
C
T
T
C
A
C
A
G
T
A
C
T
A
T
A
G
G
A
A
A
A
T
A
T
T
C
8750
T
T
A
C
G
G
T
A
A
A
A
G
T
T
T
T
A
A
A
A
T
A
T
A
G
A
T
G
T
A
T
T
A
T
A
G
A
A
T
A
A
A
G
G
G
T
G
A
A
A
8800
A
T
T
C
T
T
C
A
T
T
T
T
T
C
C
T
C
A
T
G
T
T
A
A
C
T
T
C
C
C
T
G
T
C
T
C
T
A
T
T
G
T
C
A
A
T
T
T
A
G
8850
G
A
T
G
T
A
T
C
C
T
C
C
C
C
A
T
C
C
C
C
T
T
T
C
T
A
T
G
T
G
T
G
C
A
C
A
T
G
T
A
C
C
A
A
T
A
T
A
T
A
8900
T
G
C
C
T
T
T
T
T
G
T
T
T
T
T
C
A
C
A
A
A
T
A
G
T
A
T
T
A
T
T
T
T
C
C
C
A
T
G
A
T
T
T
A
C
T
T
T
T
A
8950
A
A
A
C
T
T
A
A
T
C
T
T
G
A
G
T
G
A
T
T
T
T
T
C
T
A
G
G
T
C
A
T
T
T
C
A
T
G
T
G
G
T
T
A
T
A
C
C
T
C
9000 |
REPEAT
A
T
T
C
T
T
T
T
G
A
A
T
G
A
A
T
G
C
A
T
G
A
T
A
T
T
C
T
A
T
A
G
T
G
T
G
G
C
T
G
A
A
A
C
A
T
G
A
A
T
9050
T
A
T
T
T
T
T
T
A
T
G
A
G
A
C
A
T
A
G
T
T
T
C
G
C
T
C
T
T
G
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
9100 |
REPEAT
C
A
G
C
G
C
G
A
T
C
T
C
G
G
C
T
T
A
C
T
C
G
A
C
T
G
C
T
G
C
C
T
C
C
C
A
G
C
T
T
C
A
A
G
T
G
G
T
T
C
9150
T
C
C
T
C
C
C
T
C
A
G
C
C
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
G
G
C
9200
C
C
G
A
C
T
A
A
T
G
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
T
G
T
G
T
T
G
G
T
9250
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
C
A
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
T
G
T
C
T
C
G
G
C
C
T
C
C
C
9300
A
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
C
A
C
A
T
C
C
T
G
C
C
T
G
A
A
A
C
A
T
G
A
9350 |
REPEAT
A
T
T
A
T
T
T
T
A
C
T
A
T
T
C
T
G
T
A
G
G
A
A
T
C
T
T
A
G
G
G
A
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
A
9400
C
A
C
T
G
T
T
A
C
A
A
A
T
A
A
C
T
C
C
C
A
G
T
G
A
C
A
T
C
A
T
T
A
T
T
T
T
A
C
A
T
A
C
A
C
T
T
T
T
G
9450
T
A
G
A
T
G
T
G
A
A
A
T
A
T
T
T
C
T
T
T
A
T
G
A
T
A
G
A
C
G
T
A
T
A
G
A
A
G
T
T
G
A
A
T
T
G
C
T
G
G
9500
G
T
C
A
C
A
G
G
G
T
A
T
A
T
G
G
G
A
C
A
T
T
T
T
A
A
A
T
T
T
T
G
A
A
A
C
A
T
A
C
T
G
G
C
C
A
T
T
T
G
9550
C
C
T
T
T
C
A
G
A
A
A
G
G
C
T
T
T
A
AG TGACTTTTCT
A
AGGAGTGTA GAATTT
C
TCT
9600 |
var(9581):[T:0.09]
|
var(9597):[T:0.01]
TGTTTTCAAA ACAATTGCTA GGACACTGCT CTCTTTTGTA CCTTCATTTA
9650
CCCTGAAGAG AAGAGATCTT CTGCCCTTTT CTATACTTCC CAATTTTCTG
9700
CTTCTATTCA ATA
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
C
G
A
G
T
T
T
9750 |
REPEAT
T
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
T
G
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
9800
A
A
C
C
T
C
T
G
C
T
T
C
C
T
G
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
T
T
G
A
G
T
9850
A
G
C
T
A
G
G
A
C
T
A
T
A
G
G
C
A
T
G
G
G
C
C
A
C
C
A
C
A
C
C
C
G
G
C
T
A
A
G
T
T
T
G
T
A
T
T
T
T
T
9900
A
G
T
A
G
A
G
A
G
G
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
A
G
A
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
C
G
A
9950
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
T
C
C
T
T
G
G
C
C
T
G
C
C
A
A
A
G
T
A
T
T
G
G
G
A
T
T
A
C
A
G
G
C
10000
A
T
G
A
G
C
C
A
C
T
G
C
G
C
C
C
A
G
C
C
GCCTCTATTC AGTATTTCAT TTCCCGAGCT
10050
TATACCATGT GCCAGGCGCT CTCCTGAGGG CTAGGCTGGA GGATAGCCCT
10100
TGCCTTCAAT ACGTTCTCAA CTTG
G
G
C
C
A
G
G
C
G
C
A
G
T
G
G
C
T
C
A
C
G
C
T
T
G
T
10150 |
REPEAT
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
A
C
T
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
T
A
10200
G
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
A
G
A
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
10250
C
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
10300
A
G
G
C
T
G
A
G
G
C
G
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
C
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
G
G
T
G
A
10350
G
C
C
G
A
G
A
T
C
A
C
G
C
C
G
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
A
G
C
A
A
C
A
A
G
A
G
C
G
A
A
A
C
T
C
C
10400
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
GTC TCAACTTAAC AGATGCCATG CTGTGGTCTT
10450
GCCACACCAA TAGGAACTGT CATTTCACCC TGTTAGTATT TTTTTGTGTA
10500
TGTGTGGGAG AGACTTGGAC TGCATTTTAC CACATATTGT GGTCTGTTTT
10550
ATATAAACGT TTTTATAATA TTCACAATAC TACTAATAAT AATGAGCTTT
10600
AAGAACTCAT TACGTATGCT GTATGAAGGT ATGTATAGAA ATATAAAGTG
10650
GAATCTAAAA AGTGTGAGAC ACTTACATGC CACCTTTTTT TCTTCAATAC
10700
AG
G
A
A
T
G
G
G
T
A
G
G
A
C
A
A
G
T
G
G
A
A
A
T
A
A
G
T
G
C
C
C
T
T
T
C
T
C
T
T
A
T
G
T
A
C
A
G
G
10750 | Exon 3
E W V G Q V E I S A L S L M Y R 49
TAAACACTGT AATAACATAA GTAAAAGAAA AT
G
AAACCAG TGGGAAATTA
10800 |
var(10783):[A:0.19]
TATTCCATTA TATTAAAAAT GTTAAAATAG CAAAGCTCTT TTATACTTTA
10850
GTTATGAAGT ATCTTTTCTA AGTTTTTTTT AATTGCATCA ATTAGATTTT
10900
GACATTTAGA TATGTCAGTG TTTAGAAATT TTAATTCTCA AAATACTTTG
10950
GAAAAGGGTA CAGAAATTTT TCCGGTCTAT GTTCTGTAAG ATATCACTTA
11000
TCAACTTTGT AGAGAAATGA TTTTCTACTT TCTCAGGGTC AGTGGTATTG
11050
AATGGCCACT AGAAC
C
GTAC TAAAATACCA TGTTA
C
A
A
A
T
T
G
G
G
T
A
T
T
C
C
11100 |
var(11066):[G:0.01]
|
REPEAT
T
T
A
T
C
T
G
A
A
A
T
G
A
T
T
G
A
G
T
C
C
A
G
A
A
G
T
T
T
T
T
G
G
A
T
T
T
C
A
T
T
T
T
T
T
T
T
T
T
A
11150
A
A
T
T
T
T
G
G
A
A
T
A
T
T
T
A
C
A
T
T
A
T
G
C
T
T
A
C
C
C
A
G
T
T
G
A
G
C
A
T
C
C
C
T
A
A
T
T
T
G
11200
A
A
A
A
T
C
T
G
A
A
A
T
C
C
A
A
A
A
T
G
C
T
C
C
A
A
T
G
A
G
C
A
T
T
T
C
C
T
T
T
G
A
G
T
G
T
C
A
T
G
11250
T
T
G
G
T
G
C
T
C
A
A
A
A
A
G
T
T
T
T
A
G
A
T
T
T
T
G
G
A
A
C
A
T
T
T
G
G
G
A
T
T
T
T
G
G
C
T
T
T
T
11300
T
A
G
A
T
T
T
G
G
G
A
T
G
C
T
C
A
A
C
C
T
G
TATTCAAT TTTGCTACTT TTGCCTAGTA
11350
GAGGAGCAGG TAAATACTTT GTTTTTTCTT TTCAGAATGT TGTTTAAATT
11400
TCATCTTCAA AATTTCTTTG ATTTTTGAAG TGTCCCTTTA GAATTATATC
11450
TGAAATTTAA TATATATACA AATAATATTT GAAATTTTAC ATGTTAAAAA
11500
GGTTACTTTT ATATAGATAT TTTACAACTT AGTTATCTCA
T
T
A
T
T
G
T
C
T
T
11550 |
REPEAT
T
T
G
T
A
T
C
T
C
C
A
G
T
G
G
T
T
G
G
G
A
C
A
G
T
G
C
C
T
G
G
C
A
C
G
T
A
T
T
A
G
G
C
C
C
T
T
G
A
T
11600
G
A
A
T
G
A
A
T
G
A
A
T
G
A
TTAAAT TCAAATTCAT GAAGTATAGT CCATTATAAA
11650
TAATTTCTAA TTGTTATTTT CAG
G
A
A
A
G
A
T
T
T
T
A
T
A
A
T
T
T
A
T
C
G
G
G
A
A
C
C
11700 | Exon 4
K D F I I Y R E P 58
A
A
A
T
G
T
T
T
C
T
C
C
T
T
C
A
C
A
A
G
T
A
A
C
A
G
A
A
A
A
T
A
A
T
T
T
T
C
C
T
G
A
A
A
A
G
GTAA
11750
N V S P S Q V T E N N F P E K 73
GAATTTTTCA AAGTGTTCTA AAGTATTTAA GTAAAAGAAC CGCTTAGTTG
11800
CTACCATGAC CTCATAAGCT ATAATTTTAA ATGATTTTTT GAAATATTTC
11850
TGTATTAAGG TTATGGTATT CTGATTTCTT AAAAGTTCCT AT
A
G
C
C
G
G
G
T
11900 |
REPEAT
|
var(11896):[T:0.04]
G
C
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
A
G
G
C
A
G
G
C
A
11950
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
A
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
12000
C
C
C
G
T
C
T
C
T
A
C
T
G
A
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
A
C
A
T
C
C
12050 |
var(12003):[T:0.04]
|
var(12020):[C:0.01]
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
A
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
T
12100
G
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
A
C
C
A
T
T
G
C
A
C
T
T
C
A
G
C
C
C
12150
G
G
G
G
A
T
C
A
A
G
A
G
T
G
A
A
C
C
T
C
C
G
T
C
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
GTT
12200 |
var(12197):[A:0.02]
CCTATTAATT GTCACTTAGT CATATTATTT TGTATTTTTT TTGCTCCCAC
12250
AAGTTACTGT ATTTAACCCT TTTATAACAT TTTAGTAGAA ACACTGAATT
12300
ATGAGACATT AATACATATG ATGAACTAGA CTATTATAGT TTTTTATCAA
12350
TATAAACATT AGTAAAAAAA AATAACTTGT GAAAATAGGT TCTGCCATTA
12400
CATCCAGGAA TACTTTAGTA ATCATAAATA TTTCCCTAGT GTAAATTTTA
12450
CTCACAAGGG TGTCGTTGCA TTATCTGTCA TAAAGCAGAA GCAACTGAAA
12500
AATTTTGTGA AGCCTAGAAA GAAAGATCAA CTGACTTATT ATAAGAGAAT
12550
TTTTGTCTTA AGTAGCTATT TTGGAGTCAT GATGGCCAAA TTGAAGTGAC
12600
TTGTGTTCCA CCATGCTGGT GGTG
T
TAAGT TAGAGGGGAA TTGAGTGAAA
12650 |
var(12625):[G:0.20]
TACTACTGTT ATAAGGGTTT TGGGGTTTCT GGGACTTTCT AAGGGATCTG
12700
GCTTTTTCAA AACAAGTTTT GAAATATATT GTTATATTCT AAACAAAATC
12750
AATGTGCATT TTTCTTTGTA TAAGTGATGA TTTAGAAAAT CACTTATACA
12800
AAGAAATTTA ACTTTGATTT TGCTTGTTAG AAAATTTTGC
A
T
G
TTAGAGG
12850 |
var(12841):[T:0.03]
|
var(12843):[A:0.01]
TTAGCATTAA TAAGGTTTTG AAATATTTTC
T
TACAGTGTC TTGTTCTTTA
12900 |
var(12881):[C:0.12]
AGTAGTTGAA AGCATGTTTT CATATATTAT TTTTATTTTT TTGTGATCCT
12950
ATAAACATTT CCAGAAATCA TTTTGAATTT TTTGATTTAA TGTTTATATA
13000
ACATTTCAGC ATATGGATGT ACTGTAGCTT GACAACACTG AAGCTTTAGG
13050
TTACTCCTAA AATACTCACT GTCTGTTTGG AAATGATCTA GTAATTCAGA
13100
GGCATTGGAG ACATACATTG CTATGTAAAT GTTATATGTA TGAGGGGCTG
13150
AAATGTTTCT TTTATTTTTC CCTTTCAG
G
T
G
T
T
A
C
T
G
T
G
T
T
T
T
T
C
A
A
A
T
G
13200 | Exon 5
V L L C F S N 80
G
A
A
A
T
C
A
T
T
A
T
G
A
T
A
T
T
G
T
G
T
A
T
C
C
C
A
T
A
A
A
G
T
A
T
A
A
A
G
A
A
A
G
C
T
C
T
G
C
T
13250
G N H Y D I V Y P I K Y K E S S A 97
A
T
G
T
G
T
C
A
G
T
GTAAGTATCA CCTTGTGTTT ATATGGGAAA TTATATTCCT
13300
M C Q 100
AAACTTATAC AGTCTTTTTG
T
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
T
T
T
T
G
A
13350 |
REPEAT
G
A
C
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
C
C
13400
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
T
G
C
C
T
C
C
G
G
G
G
T
T
C
A
T
G
C
C
A
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
13450
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
G
G
G
C
G
C
C
C
G
C
C
A
C
A
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
13500
T
T
G
T
A
T
T
T
T
T
A
A
T
A
G
A
G
A
C
T
A
G
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
G
T
G
G
T
C
T
C
13550
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
G
C
C
C
G
C
C
T
C
G
A
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
13600
T
T
A
C
A
G
G
C
G
T
G
A
G
C
T
A
C
C
G
T
G
C
C
C
G
G
C
C
TT ATACAGTCTT AATGTAAACA
13650
AATCAGAGCA AATAATTCTA TTCTGTTATA ATATAAAAGA TATGTCCAAG
13700
AACCTTAAAT TACCAAGAGT ATTAATATTA TAATAAAAAC TTGTTGCA
G
T
13750 |
var(13749):[A:0.01]
AGGAGGAAAG G
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
G
G
T
C
C
C
A
A
C
T
A
C
13800 |
REPEAT
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
A
G
T
C
A
A
G
G
C
T
G
C
13850
A
G
T
G
A
G
C
T
A
T
T
A
T
T
G
T
G
C
C
A
C
T
A
C
A
C
T
C
C
A
G
C
T
T
G
G
G
C
A
G
C
A
G
A
G
T
G
A
G
A
13900 |
var(13859):[G:0.01]
C
C
T
T
G
T
T
T
C
A
A
A
GTGAAGCA AAGCAAAACA AAACAGAGAG AAATTGGAGG
13950
AAAGGGAGCT TGTGGCTAGA GTTTGACTTG TAAATACCAA C
T
TTTTTTTC
14000 |
var(13992):[:0.01]
CTGCAATCAT TTTGGTAATA AAGATTTATA TGCATTTTAA AAACTGTTAG
14050
TGTATAGCTT GAAAATCCAA ATGACTGAGC AAATCAAACA TTTGATTGTA
14100
TTTGGCTCC
A
GGGCAGCA
T
T
T
T
G
A
A
C
C
T
T
G
G
A
A
C
T
A
T
T
G
A
T
A
T
T
T
T
C
G
G
C
14150 |
var(14110):[G:0.04]
|
REPEAT
C
A
G
A
T
A
C
T
C
C
T
C
T
G
T
T
G
T
A
G
G
C
T
C
T
C
T
T
G
T
G
A
A
C
T
T
C
A
G
A
A
T
G
T
T
A
A
G
T
A
14200
G
C
A
T
C
C
T
T
G
G
C
T
T
C
T
A
C
C
T
A
G
T
G
G
A
T
G
G
C
A
G
T
A
A
C
A
C
A
C
T
C
T
C
T
C
T
C
C
C
T
14250 |
var(14214):[T:0.01]
T
T
G
T
G
A
C
A
A
C
C
A
A
T
A
A
T
A
T
T
T
C
C
A
G
A
T
T
T
T
G
C
C
A
A
A
T
G
T
T
T
C
C
T
G
G
G
CAT
14300
ATGAATTCCC TTTGCCCTTC TTCTGTGTGA GAATTCCTGC TGTAGAAGAG
14350
CAGTGACCCT TCCTACCAGT TTCTTTTATA TCATCCGTTC TGGCAAAGTA
14400
CAGATCAGTC ATAAAGCAGT GGTGCTGGGC TTGTGACAGC TTTTTCCTCT
14450
GCTCTTAAGC TAGTGGTAAC CAGTAAAGAT ATGTGCAATA CACTATTTTA
14500
AATAATTAAT CCATTGTAAG ATATCGAAGT GTAGCCTCTG TACCCTGGGC
14550
TGTGTCTTCT CCCTCCTAGC TAGTCACAAT CTGGACACCT CAGCTTTGGG
14600
AAAGATAGCT CCTAGAGCTT GTCTTTCCTG TGATTCTAAG TGCCTGTGGT
14650
TTGGGTGATA CGAGGGCTGC AACTCCTGTT
A
CTGGAACCT GGAAGAAAGA
14700 |
var(14681):[G:0.01]
TGGTCTATAA GAAGGAAGTC TCTGTGGGAA CTCATTTAGA GGTGGACACC
14750
CAGTGT
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
T
G
A
G
G
T
G
G
A
G
T
14800 |
REPEAT
G
T
T
G
C
T
C
T
C
T
C
G
C
C
T
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
14850
C
A
A
C
T
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
T
A
A
G
C
T
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
14900
T
A
G
C
T
T
G
G
A
T
T
A
C
A
G
A
T
G
C
C
C
G
C
C
A
C
C
A
A
G
T
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
14950 |
var(14904):[G:0.01]
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
C
T
T
G
A
C
C
A
G
G
C
T
G
G
T
C
T
T
A
A
A
C
C
C
C
T
15000 |
var(14985):[G:0.09]
|
var(14996):[A:0.01]
G
A
C
C
T
C
A
A
C
T
G
A
T
C
C
G
C
C
T
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
A
A
T
T
A
C
A
G
15050
G
C
A
T
G
A
G
C
G
C
T
A
T
C
C
T
G
T
C
C
G
G
C
C
TTTGCT G
T
T
T
T
T
T
A
A
G
A
C
A
G
G
G
T
C
T
C
15100 |
REPEAT
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
A
G
T
T
C
A
C
T
G
C
A
A
15150
C
C
A
C
T
G
G
C
T
T
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
G
C
T
G
C
C
T
C
G
G
C
C
T
C
C
T
G
C
G
T
A
G
15200 |
var(15200):[A:0.05]
C
T
G
G
A
A
T
T
A
C
A
G
G
T
G
T
G
C
A
C
C
A
C
C
A
C
A
C
C
T
G
G
G
T
A
A
T
T
T
G
T
G
T
A
T
T
T
T
T
A
15250 |
var(15246):[C:0.01]
G
T
A
G
A
G
A
C
A
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
A
C
T
C
C
T
G
A
C
15300
C
T
C
C
A
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
T
G
G
T
C
T
C
C
C
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
T
G
15350
T
G
A
G
C
C
T
C
C
A
C
A
C
C
T
G
G
C
C
C CATTGTTGAT GAATTCTTAG TACATTGTTT
15400
TCTTAAAGCT CATTGTTATA AAACCAAATC AGAGTCCTAA AATCCATGTA
15450
TTTTTGAATT TTTGTTAAAA TATATTTCCC TATATTCAAG ACTGGAGTTT
15500
TAAAATTTTA CTTTATTTAA AGCAGCAAAG TTGTCTAAAT ATGCTTCTTT
15550
CTTTCAGTGG CTGCTGAGAA TATATTTTGT AACAGCTGCT TTTTTAGTTC
15600
CTTATGTAAA ATTAAAATCT GGAGCTAGGT TATGTAGTCA AACATCCTCT
15650
TTTTCTATAG CAACCTGA
G
A
A
G
T
G
C
T
C
G
T
C
C
A
A
G
G
T
T
A
C
A
A
T
T
A
G
T
G
G
G
A
15700 |
REPEAT
A
A
G
C
T
T
A
G
A
C
T
A
G
C
A
T
C
C
A
A
G
T
C
T
T
C
T
G
A
C
T
T
G
T
C
A
G
C
T
A
G
T
A
T
G
T
A
C
T
A
15750
T
A
C
T
A
T
A
T
T
C CTCTTTCTAG CAATCTTAAA GCTTCTTAAT GTTTTTAATC
15800
TAAGTCTCTT AAGA
T
T
G
G
G
C
A
T
G
T
T
G
T
A
T
G
A
C
A
T
C
C
C
T
A
A
G
T
C
T
C
A
G
T
T
T
15850 |
REPEAT
C
C
T
T
A
T
C
T
G
T
A
G
A
A
T
C
A
G
A
A
T
A
A
T
G
C
T
T
C
A
C
T
G
T
G
C
T
G
G
A
A
T
T
A
A
A
C
G
T
A
15900
A
G
G
A
T
A
T
A
T
A
A
A
G
C
T
G
C
A
C
A
G
T
G
T
G
T
G
G
A
A
T
G
T
A
G
T
A
GTA ATAATTGCTC
15950
AGTGT
G
TGTG TTTTGGCTTT TCCTGTTGTC CTACTTGTTT CACAGTTGTG
16000 |
var(15956):[A:0.43]
ATACCTTTTT GTGATGGTGT TAGTTTTAAA AATGGCACTG TCTTTTGCGA
16050
TTATTTTAAA CTACTTAACT GCACTTACAG AAATTTTAGC TGTACCCTAG
16100
GTAACTTTCT GATAAAATTA TGTTATTGAC CATAAGGTTT AGCAGATAT
C
16150 |
var(16150):[G:0.01]
TAGTCAGGAT TTTAAAAGCC TGAGCAATAG AAAGTTACAA TGTGATGGTC
16200
TGTTCCTGTT TTTAAAAAAC TGCCTGTAGT TAATGTTGGA AAATCTGTCT
16250
GTCATTAATT GCAG
C
T
C
T
C
C
T
T
T
A
T
G
A
A
T
T
G
C
T
G
T
A
T
G
A
G
A
A
G
G
T
A
T
T
T
A
16300 | Exon 6 |
var(16279):[C:0.01]
S L L Y E L L Y E K V F 112
A
A
A
C
T
G
A
T
G
T
T
A
G
T
A
A
A
A
T
T
G
T
G
A
T
G
G
A
A
C
T
A
G
A
C
A
C
G
T
T
G
G
A
A
G
T
A
G
C
T
16350 |
var(16349):[G:0.01]
K T D V S K I V M E L D T L E V A 129
G
A
T
G
A
A
G
A
T
A
A
C
A
G
T
G
A
A
A
T
A
T
C
A
G
A
T
T
C
A
G
A
G
G
A
T
G
A
C
A
G
T
T
G
C
A
A
GTA
16400
D E D N S E I S D S E D D S C K 145
AGAATGAAAT CCTAAAATAC CTTTCTTAGT GCCATACAAG GAAAGTTAAG
16450
TAAATGTCTT TACATTTCAG T
A
AATGTCTT TCTATAACAT ATATTGAGGT
16500 |
var(16472):[:0.19]
ATTAATGGTA TTCATAAAAT ACAGCAGTCT GCTGAAGTTT CTTTATCCCT
16550
GTCACTAATT TTACCT
A
ATT TCTATTATGG GACTGTTTGT TTTGAAAGTT
16600 |
var(16567):[G:0.01]
GGTGTTTTTG GTTGATGAGA ATTTACGTCT GCAATCTAGA TGCATATTTG
16650
TAGAATAAAT TTGGTCCTAC CTATATGTGT GTGTATTGTA AAATTTTAAA
16700
GTTAACTTGT CA
A
T
TGTTCA CATACCCAGT AATGAAATAA AATGGCCGTT
16750 |
var(16713):[G:0.02]
|
var(16714):[A:0.03]
TGGATTTCCT TCACT
T
T
C
TT TTATTGTTTT CTTTCTTAGG TAGTGCCTCT
16800 |
var(16766):[:0.01]
TTTTAGATAA TGAAAGTTCC AAGTTGGGGT TAT
A
AGTATG TGAACACCTG
16850 |
var(16834):[T:0.01]
GATAATGCCT CTGTGTAGGT TGTGAGTAAA TATGTCTGAA CGTAGAATCT
16900
CTGAGGCTTA GCTTTCTTTT TCACACAAGA C
G
T
A
C
A
A
G
A
T
A
G
T
G
T
T
T
A
A
G
16950 |
REPEAT
A
G
G
T
T
G
G
G
C
T
C
T
G
G
T
T
T
C
A
A
T
C
A
T
G
G
C
T
T
C
C
T
G
C
T
A
A
C
T
T
G
A
C
T
T
G
G
G
G
C
17000 |
NOT SCANNED
A
G
G
T
T
A
C
T
T
A
A
A
T
T
C
T
C
T
A
A
G
A
A
G
C
C
T
T
A
A
T
T
C
C
A
A
T
A
C
T
C
T
A
A
A
A
T
T
A
G
17050
G
A
T
A
T
A
A
T
C
A
G
T
A
T
T
T
C
C
T
C
A
A
A
A
G
G
G
A
C
A
A
T
T
C
A
T
G
A
G
A
T
T
C
A
A
T
C
T
G
A
17100
G
A
T
A
G
C
A
T
A
T
A
A
A
G
T
A
C
A
T
A
G
C
C
T
A
G
G
T
C
C
T
A
G
A
T
A
C
G
G
T
A
T
C
C
A
G
T
A
T
A
17150
T
T
A
G
T
T
A
T
C
A
G
T
T
A
T
A
T
T
A
G
G
A
T
G
T
T
T
A
C
T
C
T
G
T
C
T
T
T
T
A
T
A
A
G
A
A
C
C
A
A
17200
A
C
C
T
A
T
G
G
T
A
T
T
C
T
T
A
T
T
G
A
A
G
C
T
A
A
A
A
G
T
A
T
A
C
A
T
T
G
T
T
G
T
A
T
G
A
G
A
A
T
17250
A
T
G
A
A
A
G
G
A
T
T
G
T
A
C
T
T
G
G
T
A
T
G
T
T
A
C
A
C
T
C
T
G
T
G
A
C
A
C
T
A
G
A
G
A
T
A
G
A
A
17300
A
T
G
G
A
A
C
T
T
A
A
G
G
C
T
T
A
G
G
A
T
A
T
C
T
A
A
T
T
C
T
T
T
A
T
T
A
T
A
A
A
A
A
T
A
A
C
T
T
T
17350
A
A
A
A
A
T
A
T
A
T
G
T
A
T
A
T
C
T
C
T
T
G
A
T
T
T
G
T
T
T
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
T
T
G
T
T
17400
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
G
A
A
T
C
G
G
A
G
T
C
T
T
G
C
A
C
T
G
T
T
G
C
T
C
A
G
G
C
T
G
G
17450 |
REPEAT
A
G
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
C
G
G
C
T
T
A
C
T
G
C
A
A
G
C
T
C
T
G
C
C
T
T
C
T
G
G
G
T
T
C
A
17500
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
G
17550
C
C
A
C
C
A
A
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
C
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
17600
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
A
C
C
C
G
C
C
T
T
17650
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
C
C
A
G
C
C
T
G
T
A
17700
T
A
T
C
T
C
T
T
G
A
T
T
T
G
T
A
A
T
T
C
C
A
G
G
T
A
T
T
T
A
T
T
G
A
A
T
T
A
A
A
A
T
T
T
T
C
T
G
A
T
17750
C
C
T
G
A
T
T
G
A
A
A
A
T
T
T
G
G
C
C
A
C
C
A
T
T
T
C
T
T
T
C
T
A
A
C
T
T
G
A
A
T
C
A
G
T
G
T
C
T
G
17800
C
C
A
T
T
G
T
A
A
A
T
T
T
A
A
T
T
C
T
A
G
A
A
T
A
G
A
C
T
G
A
C
T
T
T
G
C
C
T
A
G
G
T
A
G
A
A
A
T
T
17850
T
T
G
C
T
T
T
A
C
G
G
T
T
C
T
C
T
C
T
G
A
G
C
A
C
C
A
T
G
T
C
A
T
T
G
A
G
C
A
T
G
G
G
G
G
A
C
A
T
T
17900
G
G
A
A
G
A
G
A
G
A
A
T
G
A
C
T
A
G
C
T
T
G
T
T
A
C
A
A
C
T
T
A
T
T
A
C
C
T
G
T
G
A
T
T
G
G
G
G
T
T
17950
G
G
G
G
G
A
C
T
T
T
T
A
G
A
A
C
A
T
G
C
C
C
T
T
T
G
G
T
T
G
C
T
G
T
T
G
C
T
G
T
T
A
A
T
G
G
T
G
T
T
18000
A
G
A
A
A
C
A
A
C
T
G
G
G
T
C
T
T
G
T
A
T
G
G
C
A
G
T
T
G
G
C
A
G
G
T
G
A
A
G
T
A
T
A
G
A
G
T
A
G
G
18050
G
G
C
T
A
G
T
A
A
G
C
T
G
G
A
G
A
A
G
T
T
T
A
C
C
A
G
A
G
A
A
G
G
T
A
G
A
G
C
A
G
G
T
G
T
G
T
A
A
G
18100
A
A
G
A
T
G
T
G
T
T
C
A
C
T
A
T
T
G
T
G
T
T
T
T
T
C
T
T
T
T
T
A
T
A
C
T
G
C
A
C
T
G
T
T
G
T
T
G
T
C
18150
C
T
T
G
G
A
A
T
G
T
G
G
A
T
T
A
C
C
T
T
T
C
T
A
T
T
G
C
A
T
T
A
T
T
A
A
A
A
T
T
T
C
T
T
T
T
T
T
T
T
18200 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
T
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
18250
T
G
C
A
A
T
C
G
T
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
G
C
G
G
G
T
T
C
A
A
G
18300
C
G
A
T
T
T
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
A
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
18350
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
A
T
A
T
T
G
G
18400
T
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
A
C
T
C
A
G
G
C
G
A
T
C
C
A
C
C
C
G
C
C
T
C
G
G
C
C
T
18450
C
C
C
A
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
T
C
T
G
C
G
G
C
C
T
T
T
T
T
T
G
T
A
A
G
18500 |
REPEAT
A
C
C
A
T
C
A
G
A
T
C
T
T
G
T
G
A
G
A
A
C
T
C
A
C
T
A
T
C
A
T
G
A
G
A
A
C
A
G
C
A
T
G
G
G
G
G
A
A
A
18550
C
C
A
C
C
C
A
C
A
T
G
A
T
T
C
A
A
T
T
A
T
C
T
C
C
A
C
C
T
G
G
T
C
T
T
G
C
C
C
T
T
G
A
T
A
C
T
T
G
G
18600
G
G
A
G
T
A
T
T
A
C
A
A
T
T
C
A
A
G
A
T
G
A
G
A
T
T
T
T
G
G
G
T
G
G
G
G
A
C
A
C
A
A
G
G
C
T
A
A
A
C
18650
T
A
T
A
T
C
A
G
C
C
T
A
C
A
T
C
T
C
A
A
C
A
C
T
C
A
T
T
T
T
T
T
G
C
C
T
A
C
T
T
A
T
T
T
T
T
T
T
T
T
18700 |
REPEAT
C
T
T
T
A
T
A
G
C
A
G
T
T
A
T
C
A
G
C
A
T
T
T
A
A
C
A
T
A
C
T
T
A
T
T
A
C
T
T
A
T
T
T
A
G
T
T
T
T
T
18750
A
T
C
T
G
T
T
G
T
C
A
C
C
A
G
A
T
T
G
T
A
C
A
T
T
T
C
A
T
G
T
A
G
G
C
G
G
A
G
T
T
T
T
T
G
T
T
C
T
C
18800
T
T
A
A
A
T
G
C
T
A
G
A
C
C
C
T
A
G
C
A
C
C
T
A
A
T
A
A
T
A
C
A
G
T
C
A
T
C
C
C
T
T
G
G
T
G
T
T
T
A
18850 |
REPEAT
C
C
A
G
G
A
G
A
T
T
T
G
G
G
A
C
T
C
T
T
G
A
G
T
A
T
A
C
C
A
C
A
A
T
C
T
G
C
A
C
A
T
A
T
T
C
A
A
G
T
18900
C
C
T
A
C
C
A
C
G
G
G
C
C
C
T
G
T
G
A
A
T
C
T
G
T
T
T
A
T
A
T
G
A
A
A
A
G
C
T
G
G
C
C
C
T
C
T
G
T
A
18950
T
A
C
T
T
G
G
G
T
G
T
C
A
C
A
T
C
C
C
G
A
G
A
A
T
A
C
T
G
T
A
T
T
T
T
T
G
A
T
C
T
G
C
T
T
T
T
G
G
T
19000
T
G
A
A
A
C
A
A
A
A
A
A
C
C
T
G
T
G
T
G
T
A
A
G
T
G
G
A
C
C
T
G
C
A
C
A
G
T
T
C
A
A
A
C
C
T
A
T
G
T
19050 |
var(19047):[G:0.03]
T
G
T
T
C
A
A
G
G
G
T
C
A
G
C
T
G
T
G
T
A
C
A
C
T
G
C
A
T
G
G
C
A
C
A
T
A
G
T
A
G
A
C
A
A
T
C
A
A
G
19100 |
REPEAT
T
T
A
T
T
T
A
T
T
G
A
G
T
A
T
A
T
G
A
A
T
GTGTAGGTG TGTATGTGAC AGTGAATTTA
19150
AAGGGCTAAT GATGGTGCTT TCATTGTGCT GAACATTATT TGACGTAGAG
19200
TA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
C
G
C
T
C
T
T
G
C
T
G
C
C
C
A
G
G
C
T
G
G
A
19250 |
REPEAT
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
A
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
19300
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
C
T
A
G
G
A
T
T
A
C
A
G
C
C
A
T
G
T
G
C
19350
C
A
C
T
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
T
C
C
A
T
19400 |
var(19354):[C:0.30]
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
T
C
A
A
A
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
G
19450
T
G
C
C
T
C
C
C
A
A
A
G
T
C
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
T
G
G
C
C
G
G
C
T
GA
19500
TGTAGAGTAT TTTTAATAAA AGGGTTGTCG AATCTGCCTA TGGATACTTT
19550
TGTTGTAAAT GGATTGTGTT TTTAAACGGG GCCTCATGTG TATATTAAAA
19600
GGAAGTTTTT ACATTCTTTT GTAAATTCAA TTATTCTACC CACCCAAATT
19650
TCACAGTTTA TGTTTTCTTA TTACTGAGCC AGTTAGAATT ACTGTTGTCT
19700
TTGACTTCTG TCTTATATAC ACACATTTAC ATACATATAC CCTTTTATAT
19750
ATAGATATAC TTGTACCAAA ACTTGTATGA GCTCACTGGA ATATAGCTCT
19800
TTTTGGAGCA TAGTTCTGAC TTTGAAGACG TT
T
AGATGAG GTTAGAAGGT
19850 |
var(19833):[C:0.01]
AATTACGTGC AAATACCTTT TTCTGCCCCA ATTATGGTTA TCTTTCTTTG
19900
TAG
G
A
G
T
A
A
G
A
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
A
T
G
T
G
A
A
T
G
G
A
T
T
T
A
A
A
C
C
T
T
19950 | Exon 7 |
var(19920):[A:0.02]
S K T A A A A A D V N G F K P 160
T
G
T
C
A
G
G
C
A
A
T
G
A
G
GTATTT TTTTTAAAAG TGGTTTTAAA TGTAGTTCTT
20000
L S G N E 165
TAATATAAGA AAGCATGTAC ATTAAAATCT TAATTTTTTT CTTTTTTCTG
20050
GTACATTTCA GTCAAGTCAG GATCATCTAC TCAGAAATTG ATTTGGTGGC
20100
TTCCTAATTT TTTGAAGTTT CTTTTCTTCA TTTGACTTTA GTTTTACGTG
20150
TATCTCAAAC AAAAATGTTT TAAAAGCACT TATGTGTTGA TTGGACTTCC
20200
TGACTTTGTT TAGCAG
C
T
G
A
A
G
A
A
C
A
A
T
G
G
G
A
A
C
T
C
T
A
C
T
A
G
C
C
T
G
C
C
T
T
20250 | Exon 8
L K N N G N S T S L P 176
T
G
T
C
T
A
G
A
A
A
G
G
T
T
C
T
T
A
A
G
T
C
A
C
T
C
A
A
T
C
C
T
G
C
A
G
T
C
T
A
T
A
G
A
A
A
T
G
T
G
20300
L S R K V L K S L N P A V Y R N V 193
G
A
A
T
A
T
G
A
A
A
T
T
T
G
G
C
T
G
A
A
G
T
C
T
A
A
A
C
A
A
G
GTGAGTTAA AAATCTGCAT
20350
E Y E I W L K S K Q 203
TTTCCATAAA TTTGCTTTGT AGCACTTGAA AATAAGTCAA CTTTATATTA
20400
TACTGACC
T
T TTTTTTTTTA ACAG
C
T
C
A
G
C
A
A
A
A
A
C
G
T
G
A
T
T
A
T
T
C
C
A
T
T
20450 |
var(20409):[:0.31]
| Exon 9
A Q Q K R D Y S I 212
G
C
T
G
C
T
G
G
C
T
T
A
C
A
A
T
A
T
G
A
A
G
T
T
G
G
A
G
A
C
A
A
A
T
G
T
C
A
A
G TAAGTGACTT
20500
A A G L Q Y E V G D K C Q 225
ATGTAAAAGA AGAAGAGATT TTACTTGAAA CTTTGCTTTT TCTAATACAA
20550
ACAGAGAAAA CAGCTGAGGT GTGAATGTGT TGTTAATTTG GGATTTCAGA
20600
ATATATTTAT CATGTATATA CATTTTAATA GTTTACAA
G
T ATTTAGCTTT
20650 |
var(20639):[A:0.01]
TTGACTCATT TGAATACGTT GCTAAAATTG TATGTATCTA AAACCGTGGC
20700
ATCCCATCAC A
T
GATCTTTA AAAACAATTC AGCCTTTGGT ATTACTTGGT
20750 |
var(20712):[C:0.01]
TCAAAGAAGT AATGAT
A
ACA TTTCAGATAT TGAGGTATTT TTGTTAAAAT
20800 |
var(20767):[G:0.01]
GGACTGAAAT TGATTCAAAA TTGACTTTAT AGGTCATTTA GTTTTGTTTA
20850
TGAAAATCAT CTTGGGAGAT GTTGATACGT ACACAATATT TACTGTTGGA
20900
CTGAGGAAAG AAAGTGAGCC ACAGAGGAGT TTTTGCCAAT TAATTTGAAT
20950
AAGCAGCTGC CCTGGATTTG AGTAGCTGAT TGTTAAAGGA AAAAGTTGGA
21000
TTAAAATCAG TGTTTCTTAA ACTAGTGGTT AACCCTCACT CTGCCCCCCG
21050
CCCCCCACCA
C
C
A
C
C
A
T
T
G
A
A
C
A
T
T
C
A
G
C
A
G
T
G
T
C
T
G
G
A
G
A
C
A
T
T
T
T
T
T
A
21100 |
REPEAT
T
T
C
T
C
A
C
A
A
C
T
G
G
G
A
G
G
G
T
G
C
T
A
C
T
G
A
C
A
T
C
T
A
G
T
G
G
G
T
A
G
A
G
G
C
C
A
A
A
G
21150
C
T
G
T
G
G
C
C
A
A
A
C
A
T
T
C
T
A
C
A
A
T
G
G
A
C
A
G
G
A
C
A
G
C
C
T
C
C
C
T
C
A
T
C
T
C
C
C
T
C
21200
T
A
A
C
A
A
A
A
A
A
T
A
C
C
T
A
G
T
C
C
A
A
A
G
T
G
T
C
A
G
T
A
A
T
G
C
T
T
A
G
G
C
A
G
A
A
G
A
A
A
21250 |
NOT SCANNED
C
C
C
T
A
G
G
T
A
A
G
A
T
A
A
T
T
T
A
C
A
A
G
G
T
C
T
C
T
T
T
T
C
T
T
G
T
T
T
T
T
T
G
T
T
C
T
T
C
A
21300
T
T
T
G
T
G
G
A
A
A
A
A
T
A
C
T
G
C
T
A
T
T
T
C
A
A
A
A
A
C
A
A
A
A
A
C
A
A
A
A
C
C
C
C
C
A
C
A
T
A
21350
C
A
C
A
A
A
A
A
A
T
G
T
T
A
T
A
T
G
G
A
A
G
T
T
A
A
T
T
C
T
C
A
T
C
A
G
A
A
A
T
T
A
T
T
T
C
C
A
T
C
21400
A
A
A
A
A
G
T
G
T
T
G
C
C
T
T
T
T
A
A
A
A
A
A
A
C
T
A
C
T
T
T
A
A
A
A
C
A
G
C
C
A
C
T
G
G
C
A
A
A
C
21450
A
T
T
T
C
T
T
T
T
T
G
A
C
T
T
A
T
G
G
A
G
G
A
A
A
C
A
C
T
C
A
T
T
T
A
C
T
T
T
A
T
G
A
T
A
A
A
T
T
G
21500
G
T
T
T
A
T
G
T
G
A
A
G
T
C
A
T
C
T
G
A
T
T
A
G
C
C
A
G
G
A
T
T
T
T
A
T
T
T
T
A
A
G
A
A
C
C
T
T
C
A
21550
A
T
A
G
T
T
C
T
G
G
T
T
C
T
G
G
G
G
T
A
T
T
T
A
A
A
G
G
T
G
A
G
G
G
A
G
A
A
G
A
G
A
A
C
A
T
G
A
T
T
21600
C
A
T
T
C
A
G
G
T
A
C
T
G
C
C
T
T
A
T
G
G
G
A
T
T
G
T
C
A
T
A
A
A
T
C
T
G
C
T
C
T
A
A
T
T
G
T
A
G
A
21650
A
G
G
G
A
A
T
T
G
T
G
G
A
A
G
T
T
T
T
T
A
C
T
A
C
A
T
T
G
A
T
T
G
G
G
A
A
A
A
C
T
T
G
A
A
A
G
A
G
A
21700
A
C
A
A
A
T
G
A
G
A
T
T
A
A
A
T
C
C
A
G
G
G
T
T
T
A
A
A
G
G
T
C
T
C
T
C
T
C
C
C
C
A
C
C
C
T
T
C
T
C
21750
A
A
A
A
G
A
G
A
A
G
A
T
G
G
C
T
T
A
T
G
C
T
G
T
A
T
C
A
C
T
A
A
A
G
T
C
G
T
G
T
T
A
C
T
T
A
T
T
T
T
21800
A
A
G
T
C
A
A
G
C
A
T
A
T
T
T
C
C
T
T
T
G
A
G
G
T
T
G
A
A
A
C
T
G
C
T
T
T
T
G
G
T
A
A
A
G
T
A
G
G
T
21850
G
C
T
T
T
T
G
A
T
A
A
A
G
T
A
G
A
T
G
G
T
A
A
A
G
C
A
C
A
T
G
C
T
T
T
C
A
T
T
T
T
T
T
T
C
C
T
A
T
T
21900
G
A
G
A
G
T
A
T
T
T
T
A
T
T
T
C
T
A
T
C
T
G
T
A
C
T
A
C
T
T
G
A
C
C
A
T
T
C
T
T
T
T
G
G
A
T
A
A
C
A
21950
T
C
T
C
A
T
T
A
A
A
A
T
T
T
T
A
A
G
A
A
A
C
T
G
A
G
A
T
G
A
C
T
C
T
A
A
G
G
T
G
A
T
T
T
G
T
T
T
A
C
22000
T
C
A
A
G
T
G
T
G
T
A
A
G
A
T
G
T
A
G
T
T
T
A
A
A
C
T
T
T
T
G
A
T
A
A
C
T
A
A
G
T
T
C
A
G
A
A
A
A
G
22050
A
A
T
T
T
T
T
T
T
A
T
T
G
T
G
A
A
A
C
T
T
T
T
G
A
A
G
G
A
A
A
A
A
T
G
T
C
T
T
T
A
T
T
G
T
C
A
T
T
G
22100
A
T
G
A
A
G
A
A
T
G
A
A
A
T
A
C
C
A
G
C
T
T
G
A
G
G
A
C
T
T
T
G
A
T
T
T
A
C
T
G
C
T
A
A
A
A
G
T
G
G
22150
G
A
G
G
T
T
G
C
T
T
A
A
A
G
C
A
T
T
G
T
C
C
T
G
T
A
T
G
T
T
G
T
A
C
T
T
G
G
C
A
G
G
T
G
C
A
C
A
A
T
22200
T
T
C
A
G
T
G
T
G
G
G
C
A
G
T
T
T
A
T
A
G
G
A
A
G
A
A
A
A
C
T
T
A
G
G
C
T
T
A
T
T
T
A
C
T
C
TTTT
22250
ATCATGGATT TACAACTGCG TAATATTAAT TGTATGCTAG AGAACAGTTA
22300
ATGGATCTAT TTTTAGGGAT AAAAATCACA GTTGCACATT TTTAATATAG
22350
GAAAAATGGG AAGATAATAA TTGTAATAAT AGTTGCTCT
C
A
C
T
T
G
T
A
G
A
G
22400 |
REPEAT
T
G
G
T
T
G
C
T
G
T
G
T
G
C
A
A
G
T
T
G
G
T
A
T
T
C
T
T
T
A
T
G
T
G
T
A
T
C
C
T
G
T
G
C
A
C
C
C
T
C
22450
A
T
T
C
C
A
T
C
T
C
C
A
T
G
A
G
T
T
C
T
G
T
G
A
C
G
T
A
G
G
T
A
C
T
A
T
T
A
T
T
A
G
C
T
C
C
A
T
T
T
22500
T
G
C
A
T
T
A
T
G
A
G
G
A
A
A
C
T
G
A
A
G
G
G
A
G
A
G
A
A
A
A
A
T
A
A
C
T
T
G
C
C
C
A
A
G
G
T
C
A
T
22550
A
T
T
G
C
T
G
G
C
A
A
G
T
G
G
A
A
G
A
G
C
C
A
G
A
C
C
T
G
G
A
A
G
C
C
T
G
G
G
G
T
A
T
G
T
G
G
G
G
C
22600
C
A
C
A
G
C
C
C
T
G
C
C
T
T
C
A
G
A
A
C
C
A
GGACCTGC TGCCTGTTTT GTTTAGAGCC
22650
TTAACATATT GTGCTCCTAC TTTTTGAACA ATTTAGAAAA TAAGTGTTAG
22700
AAAAAAATTT AGAAGGACAA AGAAGAAAAG GTTTTCTTTC TTTTA
G
G
TAG
22750 |
var(22746):[A:0.03]
|
var(22747):[C:0.11]
GAGATATGGA GGTCTGGGAG GTTAAGGAGA TGGATTTGAT TGTAGACCTA
22800
TTTGAACTTA TTTTGTTTTT ACTGATAAAC TTTATTTTCT GTTTAATTAA
22850
AGACTAAATT TTAAA
A
G
C
T
G
G
G
T
G
T
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
22900 |
REPEAT
A
C
T
T
T
G
G
G
A
G
G
C
C
T
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
22950 |
var(22905):[C:0.05]
C
A
G
G
C
T
G
G
C
C
A
A
C
A
C
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
23000
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
G
C
C
G
A
G
T
G
T
G
G
T
G
T
C
A
C
A
C
A
C
C
T
G
T
G
A
T
C
C
C
A
G
C
T
23050
A
C
T
T
G
G
G
A
G
G
C
T
A
A
G
G
T
A
G
G
A
G
A
A
T
C
C
C
A
G
G
C
T
T
G
A
A
C
C
A
G
G
G
A
G
G
T
G
G
A
23100
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
G
T
G
C
C
T
C
T
G
C
A
C
T
T
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
23150
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
A
A
G
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
CCGCAA AAAACTGATA
23200
A
G
TAATGCAA AGGAAGCAGG TGACTGATTT TTTTTTTCCT TTTCATTTTT
23250 |
var(23202):[A:0.18]
GGAATTTTTA ACAG
G
T
T
A
G
G
T
T
G
G
A
T
C
A
C
A
A
T
G
G
A
A
A
A
T
T
T
T
T
G
A
A
T
G
C
A
23300 | Exon 10
V R L D H N G K F L N A 237
G
A
T
G
T
T
C
A
A
G
G
A
A
T
T
C
A
T
T
C
T
G
A
G
A
A
T
G
G
A
C
C
A
G
T
T
T
T
G
G
T
T
G
A
A
G
A
A
C
T
23350
D V Q G I H S E N G P V L V E E L 254
G
G
G
A
A
A
G
A
A
G TATGTACTAC TCTTCAGCTA AGGCATTTAC TGCCTCCTCC
23400
G K K 257
ATTTAGCCTA ATCATGAGC
A
TTTTAAAATG GCCTTCAGTA TTTGCAAATT
23450 |
var(23420):[G:0.01]
CAATGAAAGA TAATTGCCCA TGTATAGAAA GTATATTTG
G
G
C
C
A
G
G
G
A
C
G
23500 |
REPEAT
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
A
T
G
G
G
T
G
G
A
T
23550
C
A
T
G
A
G
G
T
C
A
G
G
A
G
A
T
C
A
A
G
A
T
C
A
T
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
23600
C
T
C
T
A
C
T
G
A
A
A
A
T
A
T
A
A
A
A
A
T
T
A
G
C
T
G
G
A
C
A
T
G
G
C
A
G
C
G
C
A
T
G
C
C
T
G
T
A
A
23650
A
T
T
C
C
A
G
C
T
A
C
T
C
A
A
G
A
G
G
C
T
G
A
G
G
G
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
T
C
A
G
G
G
A
G
23700
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
C
G
A
C
A
G
A
G
C
T
A
G
A
C
23750
T
T
C
G
T
C
T
T
A
A
A
A
A
A
A
C
A
A
A
A
A
G
A
A
A
GTATA TTTGTTCCGA CCTCTAGAAA
23800
AGCACTAAAT GTGCAAATTT AGTATTTTGC ACATTGTCAA ACTTTAAATG
23850
AAGAT
T
ATTT GTTTTGTTGC TT
T
T
G
G
T
G
C
T
T
ACTGTTTAA AATGTACCAT
23900 |
var(23856):[G:0.02]
|
var(23873):[:0.98]
TGTGCACAAA GGCAGTT
C
AA GAAATTGACT AGATCGTAAT ATGGGAACTT
23950 |
var(23918):[T:0.10]
TGGAGGG
A
TT CATTTTAAAT TCATTCAGTA CTGCATTGCA TGTAGTTAGT
24000 |
var(23958):[T:0.18]
ATTCAGTCAG TGTTTGTCAG ATGGAGTAGC AAAATATTGT TGGCTTACCT
24050
TATACAGTGT TATTTTAGAG CATCTTTGTT TCAGTTGCCG CTG
G
GCTTTA
24100 |
var(24094):[T:0.01]
TTAGAGAAAA AGGTAGTAAG TCACACCTTA AACTTTACTG TGGAAAAATT
24150
TAAACATATA CAAATTAAGA ATAGATCCCC ATTATAACCA GCAGCACAAT
24200
TTTTGAATCC CAATATAACT CAACACCCAT TTTTAGCAAC TAACAGCGTT
24250
TGGCAAA
T
T
T
T
T
T
T
C
A
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
C
C
T
G
T
C
A
C
C
C
A
24300 |
REPEAT
G
G
C
T
A
T
A
G
T
G
C
A
A
T
G
G
C
G
C
A
A
T
T
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
T
T
C
C
C
G
24350
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
T
A
G
C
T
G
A
G
A
T
T
A
C
A
G
G
24400
C
A
T
G
T
G
T
C
A
C
T
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
T
C
T
G
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
24450 |
var(24438):[G:0.05]
T
T
T
G
A
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
C
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
T
G
C
24500
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
T
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
C
A
C
C
24550
T
G
G
C
C
TTG
G
C AATATTTTCT ATTCTATTTT CCCTAATATG TTTTTAAAAA
24600 |
var(24559):[A:0.06]
ATGAAAATGA AATTGGCATA
T
TTTGAAGGA ATCCAAACAT CACACCATTT
24650 |
var(24621):[G:0.03]
CTCCAGTAGA TGTTTATATG TTTCTCTAAC AGAACAAAGA CTTCCTTCCC
24700
CACCTTAACT ACAGTACCAT TATCCTAACA GAATAAGTCA TTCTGTATTT
24750
ATTTAACTTT TGCTTAGATT GTGATTCAAC TGTCTTTTTT TAAAATTAGA
24800
AAATATGCTT TTGATTTATA TC
A
T
TTTTTT TTTATTAGAA TTACATCTGG
24850 |
var(24823):[T:0.01]
|
var(24824):[:0.99]
ATTGGTAAAT GCAATTTGTA CCTTAATTGT AATTTGTTTT TAATGTAAGA
24900
AATAAAACTA GAAATTCTTA TATAAGCTGA AAATAAATAT GCAGAATATT
24950
TAACTATTCT TACTAGGGTA TTTTAAGCTA TCACAAGTCT TTTCCCCTTT
25000
GAAG
G
C
A
C
A
C
A
T
C
A
A
A
G
A
A
C
C
T
C
A
A
G
G
C
A
C
C
T
C
C
C
C
C
A
G
A
A
A
G
C
T
G
G
A
A
C
25050 | Exon 11
H T S K N L K A P P P E S W N 272
A
C
A
G
T
G
T
C
A
G
G
G
A
A
G
A
A
G
A
T
G
A
A
A
A
A
A
C
C
T
T
C
C
A
C
T
T
C
T
G
G
A
C
A
A
A
A
T
T
T
25100
T V S G K K M K K P S T S G Q N F 289
C
C
A
T
T
C
T
G
GT AGGA
G
CACAT CAAGCTATCA TTCCTTTGGG ATTGGGATGA
25150 |
var(25115):[C:0.01]
H S 291
TGGTACTTGG GATTGTTTAT AATATGAATA TTATCATGTA CTTTTGGGTT
25200
CTT
A
ACAACA G
A
T
G
T
G
G
A
T
T
A
C
A
G
A
G
G
G
C
C
A
A
A
G
A
A
T
C
C
A
A
G
C
A
A
G
C
C
A
A
25250 |
var(25204):[:0.99]
| Exon 12
D V D Y R G P K N P S K P 304
T
A
A
A
A
G
C
C
C
C
A
T
C
A
G
C
A
C
T
A
C
C
T
C
C
T
C
G
A
C
T
G
C
A
G
C
A
T
C
C
T
T
C
A
G
G
A
G
T
A
25300
I K A P S A L P P R L Q H P S G V 321
A
G
A
C
A
A
C
A
T
G
C
G
T
T
C
T
C
T
A
G
T
C
A
T
T
C
T
T
C
A
G
G
G
T
C
A
C
A
G
T
C
T
C
A
G
A
A
A
T
T
25350
R Q H A F S S H S S G S Q S Q K F 338
C
T
C
C
A
G
T
G
A
G
C
A
C
A
A
A
A
A
T
C
T
T
A
G
C
C
G
G
A
C
A
C
C
T
T
C
A
C
A
G
A
T
C
A
T
A
A
G
GT
25400
S S E H K N L S R T P S Q I I R 354
AACCTTCTTG AATGTAAGAG AAGTATAGAA ATCAAGTAAG AGGCATTTGT
25450
TATATTTGCC ACATTATGTG CATTTGAATA ATTATAACTT TTTACTCATA
25500
TCATTGTCCC TATATTAGTA TTAAGAGCAT TTTGTATAAA ACTTCATGTG
25550
AGGATCTCAA TTCTTTATAA TTCTCTTCAA AGCAAGGAAG TATATATAGA
25600
GAGA
C
CTTTA TTTTTTAGTA ATTTTTTCAA ATGGTTTGGG AGATCTTATT
25650 |
var(25605):[A:0.01]
CTAGCCCAAT TCTATTCTGG CACTTAATTA TTTTCTGGTG GCTTGTAATA
25700
TGGTAAATAC TGGATTCCAG ATTGCATTCC TATTTCCTTG GGAGGTGAGG
25750
ATACTCCCAT TTGTACAAGA ACTTAAAACA GCCCAAAATT ATTGGTTTAC
25800
TTTGATCTGA TAAGTTTTGA TTGTGGTGAT GTCTCTTAAT ACCGAATGGG
25850
GCTACAATTT TAGGTCTGTG AAATTATAAA TATCAGCATT CTGACTAAGT
25900
ATCCAGAGGC AGATGAACTT TTAGGATCAT A
A
T
T
T
T
C
C
T
G
T
G
C
T
A
T
A
T
G
G
25950 |
REPEAT
A
T
T
T
T
A
A
T
T
T
T
T
C
C
C
T
A
G
T
C
T
T
C
A
C
T
T
T
C
T
G
T
T
C
A
G
T
A
A
T
T
T
T
A
T
A
G
C
C
C
26000 |
var(25974):[C:0.03]
T
T
T
G
G
A
A
G
A
G
C
T
T
T
A
T
T
T
G
A
G
A
G
G
C
T
G
T
G
T
C
T
T
A
T
G
T
T
G
A
A
A
C
T
G
T
C
T
T
C
26050
A
T
C
G
T
G
C
A
A
A
T
A
T
G
A
C
C
G
T
G
T
T
T
C
C
T
G
T
G
G
A
G
T
C
T
T
C
A
T
A
G
G
T
G
A
C
T
A
T
G
26100
A
C
A
A
G
T
A
C
C
T
T
T
C
C
C
A
T
C
A
A
A
G
C
A
C
C
T
T
C
T
C
A
A
T
T
G
C
C
C
G
A
A
G
A
G
C
T
G
T
A
26150
G
C
A
T
C
A
G
C
T
T
A
T
G
T
G
T
T
T
G
C
T
A
A
C
C
C
T
C
T
G
G
T
C
T
T
T
A
G
T
T
C
C
A
T
T
A
T
T
T
C
26200
T
G
G
C
A
T
T
T
G
G
G
T
G
T
T
C
C
T
T
T
T
T
T
T
G
T
G
A
A
T
G
C
A
C
T
T
A
A
C
A
T
T
T
TGTCACT
26250
GAAGATGTAT A
G
G
C
T
G
G
T
G
T
G
A
A
G
G
T
C
G
T
G
A
G
T
T
A
T
C
T
C
A
G
T
T
G
A
T
T
G
T
T
26300 |
REPEAT
|
NOT SCANNED
C
A
C
A
G
T
C
A
G
T
T
A
C
A
G
A
T
C
A
A
A
C
T
C
C
T
T
G
T
T
C
T
A
C
T
C
T
T
T
C
A
C
C
C
C
T
T
C
T
C
26350
A
C
T
A
C
T
G
T
A
G
T
T
G
G
C
T
A
G
T
C
T
T
A
A
A
A
A
G
A
A
A
G
G
A
A
A
G
A
A
A
A
A
A
A
T
A
T
G
T
T
26400
T
T
A
T
G
T
A
G
C
G
T
C
T
T
C
A
A
G
A
C
A
G
A
A
T
T
A
T
A
G
C
T
T
C
T
T
A
A
G
C
T
G
A
C
A
T
T
T
A
T
26450
C
A
A
T
A
C
T
A
T
T
T
T
A
G
T
T
T
C
T
T
G
G
G
G
C
T
G
T
T
G
T
A
A
C
A
A
A
A
T
A
C
C
A
T
A
A
A
C
T
G
26500 |
REPEAT
G
T
C
A
G
C
T
T
A
A
A
A
C
A
A
C
A
G
A
A
A
T
T
T
A
T
T
T
T
T
T
C
A
C
A
C
T
T
C
G
G
G
T
T
G
C
T
A
G
A
26550
A
G
T
C
T
G
A
A
A
T
C
A
A
G
T
T
G
T
T
G
C
C
A
G
G
G
C
C
A
T
G
C
T
G
T
C
T
C
C
G
A
A
G
G
C
T
C
T
A
G
26600
G
G
G
A
G
A
A
T
C
C
G
T
T
C
C
A
T
G
C
T
T
G
C
C
T
C
C
T
A
C
T
T
C
T
G
G
A
G
T
T
G
A
C
T
G
C
A
G
T
C
26650
C
T
T
G
A
G
G
T
T
C
C
T
T
G
G
C
T
T
G
T
A
G
G
T
G
C
A
T
C
A
C
T
C
C
A
T
T
C
T
T
T
G
C
T
T
C
C
A
T
C
26700
A
T
C
A
C
A
T
G
G
T
G
T
T
C
T
C
C
C
C
A
T
G
T
G
T
C
T
G
T
G
T
C
T
G
T
C
T
C
T
T
C
T
T
G
T
A
A
G
G
G
26750
C
A
T
T
A
G
T
C
A
T
A
C
T
G
G
G
T
T
T
A
G
G
T
C
C
T
A
C
C
C
T
A
T
T
C
A
G
T
A
T
G
A
C
C
T
C
A
C
C
T
26800
T
A
A
C
T
T
G
A
T
T
A
C
A
T
C
T
G
A
G
A
A
G
A
C
C
C
T
A
T
T
T
C
T
A
A
A
T
A
A
G
G
T
C
A
T
G
T
G
C
A
26850
C
A
G
G
T
A
C
T
A
G
A
G
A
T
T
A
G
G
A
A
T
A
T
G
A
A
C
A
T
A
T
C
T
T
T
T
T
G
A
G
A
A
A
T
A
C
A
C
T
T
26900
C
A
A
T
C
C
A
T
A
A
C
A
A
A
T
A
C
T
A
A
T
G
A
T
T
C
T
A
A
T
C
C
G
T
T
A
T
A
T
T
A
C
C
T
C
T
C
C
C
A
26950
A
A
C
A
G
A
C
A
G
A
A
T
T
T
A
T
G
C
C
A
C
T
A
A
T
C
A
A
C
T
A
G
T
T
A
T
G
G
C
T
G
A
A
G
T
T
T
G
T
T
27000
G
T
T
T
G
G
A
C
A
T
T
G
A
C
C
A
A
A
C
T
C
C
A
G
T
A
G
C
C
C
C
T
G
G
T
G
G
T
A
G
C
T
T
A
C
T
C
A
A
T
27050
G
C
A
C
G
A
A
A
A
G
T
A
T
C
T
A
A
G
A
T
A
T
T
A
A
C
T
T
A
C
T
T
T
G
A
A
T
G
T
T
A
A
C
T
T
T
G
G
A
A
27100
A
C
C
T
A
A
A
A
A
T
A
T
A
A
A
G
T
A
A
C
T
A
T
A
G
G
A
A
G
G
T
T
A
T
A
G
G
C
A
G
A
A
A
G
T
A
A
T
T
G
27150
T
T
T
A
A
T
A
T
T
C
C
C
A
T
T
T
T
T
T
G
A
C
A
G
A
A
A
A
A
G
C
A
A
T
A
T
T
C
T
T
T
T
T
C
C
T
T
G
A
A
27200
C
A
C
A
A
G
T
G
T
A
C
T
C
T
T
T
A
G
T
G
A
T
T
T
A
A
A
G
A
T
T
A
A
T
A
A
A
G
A
A
A
A
T
A
C
A
C
A
T
A
27250
G
A
C
T
A
C
T
A
A
A
T
G
G
T
T
A
A
T
T
T
A
A
A
T
A
A
A
C
T
T
G
T
T
T
A
T
T
A
T
A
A
A
C
T
G
A
A
T
T
T
27300
A
T
A
A
T
C
C
A
G
T
G
T
G
T
T
T
C
T
G
G
T
G
T
T
G
A
C
T
C
T
G
A
T
C
G
C
C
T
A
T
G
A
A
T
T
G
G
T
A
T
27350
A
G
T
G
C
T
C
A
G
A
T
A
G
A
T
G
T
C
T
T
G
T
A
C
C
A
G
T
A
A
T
A
C
T
T
T
T
A
A
T
C
A
A
C
A
G
T
T
T
T
27400 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
C
A
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
27450
G
T
G
G
C
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
T
C
C
T
C
C
A
T
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
27500
T
C
C
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
T
G
C
A
C
C
A
C
C
A
27550
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
G
T
A
T
T
T
T
A
A
T
T
A
A
A
G
A
C
G
G
G
G
T
C
T
T
A
C
C
A
T
G
T
T
G
G
27600
T
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
T
A
G
G
T
G
A
T
T
A
G
C
C
C
A
C
C
T
C
T
G
C
C
T
27650
T
G
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
G
C
A
C
C
C
G
G
C
C
T
C
T
A
A
T
C
27700
A
A
C
A
G
T
G
T
T
T
T
C
A
A
T
A
C
T
A
T
G
G
T
A
T
A
G
A
G
A
A
G
C
A
T
A
T
C
T
T
A
T
T
A
G
G
A
T
C
C
27750
T
T
T
T
T
T
A
T
G
T
G
T
T
A
G
C
T
A
T
A
T
G
T
G
T
T
A
C
T
T
G
G
T
A
T
G
T
A
A
A
A
A
T
A
C
T
T
G
A
T
27800
G
G
T
G
T
G
T
G
A
C
A
A
G
G
C
A
G
T
G
G
T
A
A
T
T
A
A
T
A
C
C
A
T
A
G
A
C
A
T
G
A
A
A
C
T
T
T
A
G
A
27850
G
A
T
T
T
T
T
T
G
A
C
A
T
T
G
T
G
A
C
T
A
A
T
T
A
C
A
T
T
A
G
A
A
C
C
T
A
G
T
G
G
T
A
T
T
T
G
C
A
G
27900
T
T
T
G
T
C
A
T
T
A
G
G
T
T
A
G
T
A
T
G
C
C
T
T
C
T
C
C
A
T
T
G
T
G
T
G
T
G
T
G
A
G
T
G
A
A
T
T
T
T
27950
A
C
T
A
A
T
G
T
A
T
T
A
A
A
A
C
A
T
T
T
A
A
A
A
A
C
T
T
T
A
T
T
G
A
A
T
A
T
T
T
A
A
A
G
T
A
A
G
A
T
28000
T
A
C
A
A
A
A
T
C
T
A
G
T
C
A
G
A
T
T
T
T
A
G
A
A
T
T
T
T
A
T
A
G
C
T
A
A
C
A
A
T
C
T
A
A
T
T
G
A
T
28050
T
T
A
A
G
C
C
C
A
G
T
A
C
A
G
T
T
C
A
T
C
T
T
C
A
C
T
G
T
A
T
T
T
C
T
A
A
T
C
T
G
T
A
A
C
A
C
A
T
C
28100
A
C
T
T
T
T
G
A
A
T
T
T
C
T
T
C
T
A
G
T
T
A
T
A
G
A
G
C
A
A
A
A
G
A
G
A
A
C
C
G
T
A
G
T
G
C
T
G
G
A
28150
T
A
T
G
A
G
A
C
C
T
T
C
T
T
G
G
C
C
T
C
T
C
A
C
T
T
T
T
T
C
C
A
G
T
T
T
T
T
C
T
T
C
A
T
T
G
A
T
A
A
28200
T
T
G
T
C
T
C
T
T
C
C
T
G
T
G
G
A
G
A
A
A
A
C
A
C
A
G
A
A
T
A
T
A
A
C
C
A
A
A
A
A
C
C
A
A
G
C
A
A
G
28250
A
T
T
G
C
C
A
T
A
T
A
T
G
C
T
T
T
T
G
T
T
A
A
T
G
T
G
G
C
T
A
T
C
C
A
G
G
A
A
A
T
A
C
T
G
T
G
G
C
T
28300
G
A
A
T
A
T
C
T
G
T
C
T
T
C
A
A
G
C
T
A
G
A
T
G
A
A
A
A
T
A
G
G
T
A
G
T
A
G
T
A
G
C
T
T
C
T
C
T
C
T
28350
G
T
G
T
G
G
T
A
G
G
T
G
A
G
G
A
T
G
A
G
A
T
G
A
A
G
G
C
C
A
T
A
T
A
G
T
A
G
T
G
G
T
C
A
T
T
T
T
T
T
28400
T
T
G
G
A
T
G
A
T
A
G
G
A
G
A
T
G
G
T
G
A
T
A
A
G
G
T
A
G
T
G
C
T
A
A
T
T
T
T
C
C
A
GAGACTCC
28450
TGACAGTTGC TGAGTCCTCT TCAAAATTTT TTACCACTGG GATTTGGGAA
28500
GGATTGGTCT AAAATTTTGA GAGTCCAGAT TTTCTATCCC TCCC
T
TTTTT
28550 |
var(28545):[:0.99]
TCATCGATAC CATTAGGGCT GACATCTGTC
C
TATTGTAAT TAGAGTGTGA
28600 |
var(28581):[G:0.01]
TTATAAATGG GACTGTGTAA GGACATGAAA TGGCTATTTA TTTCAGAGGT
28650
TAAAAAAAAA TCAGATAACA TCATAGTGCT CTACTCGAGG AGGATAATAT
28700
TTCTTTGTAC TGTGACAAAG TATTTTTTTT AGAGGTTTTT AGATTTTCAT
28750
GTTCCATTTT GAAGAACTGT TAGACATGAT GGAAATAGTA TTCATACTGC
28800
TTTTGATAGT TATAAGCCAT ATAACACATT AGGGTTGGAT TATAGGGTAC
28850
TAAACTCTAT TCATTAATTT CTTGTCATCC TTTTTTGACC AAAATTATGT
28900
TGAAATGACA GCAGTCTTAT CTATGCAATT GGTATCCAGC CTGACATGTT
28950
TTAGTTTTTC TTTTTCAGCT TTGTGTCTCC CTTGGTGGTG TCATAAACAA
29000
GTGGGAAGAT GGTCCTAGTG TCTCATTGGA CCATTGGACC ATTCCCCTTT
29050
ACTTAGAACA GAAAGTGAGA ATGCTTTTGA GACCTAAACT AATAACTTTC
29100
CCTTTGAGAA TTAATTCTTA ATGAAAATAT TGGAATATGG TATAACAAGT
29150
ATATACAGTG CTCACTCATT TTTGTATCAT TTGGAAATAA GTTTTTTTTT
29200
CTTTTCCCCT CTACCTCCCA TTGCTGTTTG TCTTCTTGAC TCTCTGTAA
G
29250 |
var(29250):[A:0.05]
GTAGGCTAAT GCTACAGGAG CTTCCATTTG CTTAAACATT CATTAACCAG
29300
ACTGCCAAAT GTTCTAAAAT GTCAGTGTAG CTAAATTAGT AAAATGTTTG
29350
TGTTGCAAAA TAGATCATTT TATTTTAGGT ACTCAGTACA GTTTTGTGTT
29400
TTTTTTT
T
TT GACAAGAATG TTTTATTTAT TTATTTATTT ATTTATTTAT
29450 |
var(29408):[C:0.02]
GTATTTTCTG ACAAGAATGT TTTATTTGAC AG
A
A
A
A
C
C
T
G
A
T
C
G
T
G
A
A
A
G
29500 | Exon 13
K P D R E R 360
A
G
T
T
G
A
G
G
A
T
T
T
T
G
A
T
C
A
C
A
C
A
A
G
T
C
G
A
G
A
A
T
C
T
A
A
C
T
A
T
T
T
C
G
G
C
C
T
T
T
29550
V E D F D H T S R E S N Y F G L 376
C
C
C
C
A
G
A
A
G
A
G
C
G
C
A
G
A
G
A
G
A
A
G
C
A
A
G
C
T
A
T
A
G
A
A
G
A
A
T
C
C
C
G
T
T
T
A
C
T
C
29600
S P E E R R E K Q A I E E S R L L 393
T
A
T
G
A
G
A
T
T
C
A
G
A
A
C
A
G
A
G
A
T
G
A
A
C
A
G
G
C
T
T
T
C
C
C
A
G
C
C
C
T
T
T
C
C
GTATG
29650
Y E I Q N R D E Q A F P A L S 408
TATGAAAAGA CAGTTTAAAA GTCATTATAC AGAAGTTTCT CTTAATATAG
29700
TTTTTAGATT AAGCCATAGT TCCCAAGGGT AAACTAATAA TTTTTAAACT
29750
CTAAATACTT TAAAGATCAC ATTTTTCACA TTTTTCCTAT TTTTCCTTTT
29800
CACATATTTA GTAATATCTC TAGACCTAGA GATATTACTA AAAGGTTGAT
29850
GATAGAGTTG AGGCAAGTAA ACTGGTTTGT TCACTTGTAG TGTTTCGTGT
29900
TTTCTTTTGA ACTAAAATGT GTTTAATTTG TTAGCAAAAG TACTGTGTAG
29950
TAGAGGTTCA TGATTTAGTT AATCCATTAC AAGATCTATG TGTAAAATCA
30000
GGAAGCCCTT TTGAGAGCTG TCTTTCAGGG TGTTTGCTGT TGGAGGTGGT
30050
AGCACATGTC ATCCTGTGGC TTTGTCCTTT CTCCATGTGT CAGGCACTGG
30100
GCTGTGATGG ATGCTTCTCT GATAAAAGAA GTGTTCTCTA TCTTCAGGTT
30150
TCTTAATTCT TTTTGGGAAG TCAGAAGGGA AAACTGTTCT CATGTAGAAT
30200
GAAGTATGTG CTCTGTGAGG TGGGTTTGTT GGCAGCACAG AGGAGGGGTA
30250
CCTAATTCAT TCTCATGTCT GGGAGCCTGT GCCTGTGGTC TTTTACATCT
30300
TGGTAAGTAG TACCCAAATG ACCTATGATC CAGAATGGTG GTTGGACACT
30350
TTCTCTCTTT AGAGTAGATT AAATAAATAA TGGACTGTTA
C
GGGAGGTTA
30400 |
var(30391):[T:0.01]
CCCAGTATAC CAGTATAAAA CATTAAAGCC CCACACACTC AGGTGTGTCT
30450
TCTGGTCTCT GTGGACTTCC TTAGAGGCTT GAGGAGGAGC TCAGTTGAAA
30500
ACAGGTGATC TGGAATAGCA GTTTAATC
T
G GCACAGGCAT TGGAGTTTAG
30550 |
var(30529):[A:0.01]
GAATTATTGG AAGAAGTGCC GAATCCATTT AGGAATAATT GAAGTGCCCA
30600
AATCCGTACA TAAATAAGCA TTGTTTATGT GCAAAGTACA TTTATCTCTC
30650
A
T
GTCATGTG TTATTATATA AATAACAACT ACAAATTGTT TAAGCTTGTA
30700 |
var(30652):[G:0.01]
TTCATACCAT TATGCATTTT TCAGTTAGTG AATTGTAAAT GTACAACTAC
30750
TGTAATGTGG GTACAGATGG TGAAATTTCT TTCTTATTAA GAATGGGGTC
30800
CTTCATACTC ATCATTTTAG ACTAAGGAGT TTGATACTGA TTGCTTTTGA
30850
TAGTGGCTCA GATTTGTTTT CTAGAAAACT GTTAGAGAGG GCTGAGATCC
30900
TCCTCTTAGC TGTGTGGAAC ATTTATTTAG AATGCCAAAA CAGGAACCTA
30950
GAACCCTCAG TGATAATTTA GCTTAAAAAC CTCACTTATT TCAGTCCCTT
31000
ATCTCATGCA GAGTTTAAGT GATTTGCTGA CAGTAAGCAT TTCAGTGATA
31050
AGAATCCTAG TGCACTGTAT TTGCTAATTT GCACTTAGGT TCTCCCCAAC
31100
TCCCCACCAA AAAATATGGC GCTACAATGA TTTTTTTGGA AGGTTGGCAC
31150
AGAAGATGTT GTTTTTTTTG AAA
G
AAAAAT TGTAGGGTAA AGGTTTGTTC
31200 |
var(31174):[T:0.01]
AGGGTGGCTT CCTGAAATAG GGATATGAAG ATTAAGTCTA CTAATCTAAG
31250
TTGAAATCTG ATTGCTTAAT CCTTTCAACT TAGCGATAAG ACTATTATTC
31300
TAGGGTGTAT AATTAATTAT GGACCCTA
G
A TTCTATCTTC TTTAGTTTCA
31350 |
var(31329):[A:0.02]
GTTAAAAATA CAGGGCTGTG AATTTTAAGA TTTTAGAAGT ATGAAGAGTG
31400
AGATTAATTA CAGAATTTGT TCATGTATCT GTGGGTAAAT CTTTAACACA
31450
AAATGTTGGG TTTTGTTCAT TTTAAAG
A
G
C
T
C
A
T
C
A
G
T
C
A
A
T
C
A
G
T
C
A
G
C
31500 | Exon 14
S S S V N Q S A 416
T
T
C
T
C
A
G
A
G
T
A
G
C
A
A
T
C
C
A
T
G
T
G
T
C
C
A
G
A
G
A
A
A
A
T
C
A
T
C
A
C
A
T
G
T
A
G
G
T
G
31550
S Q S S N P C V Q R K S S H V G 432
A
T
A
G
A
A
A
A
G
G
A
A
G
C
A
G
G
C
G
G
A
G
A
A
T
G
G
A
T
A
C
A
G
A
A
G
A
A
C
G
A
A
A
A
G
A
C
A
A
A
31600
D R K G S R R R M D T E E R K D K 449
G
GTAAGTTAT CTCATCATTA GAAAGCAGAT GCTAGAGATC TCTTTAGATG
31650
449
ACTGGCTTAA TGTCATATAT TTGGGAAAGA ACCCTTTTTA AGTTGTTAAG
31700
TAGTTTATCT AATGTCACAT ATTTTGAATG TTGCAGAGAA GTATTGACTC
31750
AAGCTAAAGG ATGTTAAGTG CTATTCTAAA AACTACATTT TCACTGACTA
31800
AACATGGTTC AAATAATACT TTTGGCTTCT TCTATCTTCG TATTTTGTTC
31850
TTCTGTGTTC AGACATGACT GGTGGCTTAT GCTGTCTTTT TTAATCTTGA
31900
TCTGCTATAG
A
C
T
C
T
A
T
T
C
A
T
G
G
A
C
A
T
A
G
T
C
A
G
T
T
G
G
A
T
A
A
A
A
G
A
C
C
C
G
A
31950 | Exon 15
D S I H G H S Q L D K R P E 463
A
C
C
A
A
G
C
A
C
A
T
T
G
G
A
G
GTAA AAGTTTTAAA CACTACTT
G
C ATCTTTTCTT
32000 |
var(31989):[A:0.04]
P S T L E 468
TTTCCTTAAT ACTGTGTAGT ACAGTAGGAA GAAGTGGAAG AAGGTGAAAA
32050
TAATTTC
A
AA ATTTTATAGC TGTGTATTAG GAAAGTAGAA AAGCAGGGAA
32100 |
var(32058):[G:0.04]
AAGATGATGG GGATTGAGAA GTCACTCACA AATTATGACA GTTTCTTCAA
32150
GGTACATTAG GGTGCCCTGC CTGAATTGTT AGAAAGTAGC CTTTATTCTC
32200
TGTCCCTCTA GAGTGATGTT TTTAAAGGAG AAGAGTATAA TGTTTGAAGC
32250
CTTGCCTCCA GTGAAAACTG CCCAGTAGTT TGATGTAATA AAGATGTTCA
32300
GGCAAAGTTA GCCTACCTGT TGAAAATAAC ATATAATTGG AAAAAATACT
32350
CAGTGGTGAG AGGGTTCTGT CAGATACAGG TAGGGTGAAT TATAAAAGGA
32400
AACCATCAAT ATTCCAGAAT GTGGGTCTCT GAAATACAAA ACTTTGCTTC
32450
TTTTTTGCTT CCAAAG
A
A
T
A
T
T
A
C
T
G
A
T
G
A
T
A
A
A
T
A
T
G
C
A
A
C
A
G
T
T
T
C
A
T
32500 | Exon 16
N I T D D K Y A T V S 479
C
A
C
C
A
T
C
A
A
A
G
T
C
A
A
A
G
A
A
G
T
T
A
G
A
G
T
G
C
C
C
T
T
C
T
C
C
T
G
C
G
G
A
A
C
A
A
GTA
32550
S P S K S K K L E C P S P A E Q 495
AGTATATTGT TGCATTTAAC ATTGAATGCT CCACTCTCTG GGTTTCT
G
TG
32600 |
var(32598):[T:0.01]
CTCTGTGTAT AGGGTCATTT AAAAACAGAA AACATCAGTA TGGGAAATGG
32650
GAGAATTTTT TCTGGCATCA CAGTTTGGCT GTGGTTATGA TTTTTAAATG
32700
TATTCTGATG TTAGTCTAGA ATGTTCTCTA TTTATGGAAT GTTATAGAAA
32750
TAACCACCAT TTTCTGGTGA TTGAGACCAT TTTTTTGAAT TGACTTTGAA
32800
TATATTTATA TTTGTTATCG TTATATTTGA TACTTTGTAT TACTTTGGTA
32850
GATTTCCTTG AAAATTAGAT TTTTGAAGGG AAACTGAATT TCTACTTTAT
32900
TTCAAAATTT AAAAGAGTTA TCTGCATCAG TTATTTCACA GATGGGAGGG
32950
AATGTACTGA TTGAAAAGGT TTGAAAAATA TACATTAAAA AAATACCAAT
33000
TTACAAATTT CATGATGAAC CTGTGTTCTA GCAGACATTT TAGTTCTTGA
33050
CTAATACAAG AGTAGAGAAA GTTAAATGTT AAATGCCTTT CAACCAACAT
33100
TCTTCATATT GGTAAGAAAG CATATAGTTA CATGAGGAGT TTTTCTAAAT
33150
AATCATGAAT TTCAAGATTT CAATGATTTT GCTCA
C
TTGC CTTAAAAGTA
33200 |
var(33186):[G:0.01]
TTGTGTTGTA TTTAACTCTG CTAGTGGATA
G
G
T
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
33250 |
REPEAT
T
A
A
T
T
C
C
A
G
C
A
C
C
T
T
G
G
G
A
T
G
C
C
A
A
G
G
C
G
G
G
C
A
G
A
T
C
G
C
T
T
G
A
G
C
C
C
A
A
G
33300
A
G
T
T
T
T
G
A
G
A
C
T
A
G
C
C
T
G
G
G
C
A
A
C
A
G
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
G
T
A
T
T
A
A
A
A
33350
A
A
T
A
C
A
GTCC TTGTTGGTAG GCAACCCTTG GTTAGGATCA AATTTGTTTG
33400
CATATT
A
TCT TTAGCTACTG TGTGTTTTTC TTACATTTCT AAGACTATAA
33450 |
var(33407):[T:0.01]
GGGCTATTTG TACTTC
A
TTT GTATAAAAGG CAGGCAACTC AATATGTA
T
C
33500 |
var(33467):[C:0.01]
|
var(33499):[C:0.01]
TGGTGGTTAG AAATAGTGTT AAAGCAAAAT GACCTCTTGT CTTTTTCTGT
33550
CTTCCCCCAC TCACCCCTTT CTTGAAG
A
A
G
C
C
A
G
C
A
G
A
A
C
A
T
G
T
G
T
C
T
T
T
33600 | Exon 17
K P A E H V S L 503
G
T
C
A
A
A
T
C
C
A
G
C
T
C
C
C
C
T
T
C
T
A
G
T
T
T
C
T
C
C
A
G
A
G
G
T
A
C
A
T
C
T
A
A
C
T
C
C
T
G
33650
S N P A P L L V S P E V H L T P 519
C
G
G
T
G
C
C
T
T
C
T
T
T
A
C
C
A
G
C
C
A
C
T
G
T
G
C
C
A
G
C
C
T
G
G
C
C
A
A
G
T
G
A
A
C
C
T
A
C
A
33700
A V P S L P A T V P A W P S E P T 536
A
C
T
T
T
T
G
G
A
C
C
A
A
C
A
G
GTTA GAGAAGGGTT TAGAAAATCT AGCCAGCCAA
33750
T F G P T 541
AATACCTTTC TAGTCAGAGA CTTCAAATTC TTGAGTGGAA GTTTGACCTC
33800
TGAGCAGGAT TAGGTGTGTG GAGCCTCACA GAGCTTTCTG TGATACTCTG
33850
CTTTGCTCTG CTTCCAATGT GGAAAGACCA TGTACATTTG GTGTTGTATT
33900
CATCTGACAT AT
G
CCCTCAT AGTCTCAGGA GCATGATGTT TGAGCTGGTT
33950 |
var(33913):[C:0.01]
GCTTTGGTTG CTCAGCACTA ATTAGCACCA CGGTTTGATG CTTCCTTCAT
34000
GGGCCAGCTC TTTATGGCCC C
G
TAATGAAC CCCTTGACCA GCCCCATGTC
34050 |
var(34022):[A:0.04]
CTACACGTGC CTGCAAGAGC TACTATTAGA AGACATTGAC TCAGAGCTTG
34100
TATCCTGGAC GTATTTCCTT CTTGGTGTCC AGGAGGGCTC TTGGTTGATA
34150
CTAAAAGGTA CTACTTTAGA TTGGCTTTAT
C
AGTTATACA GCATTCTTTA
34200 |
var(34181):[A:0.01]
TAGGTTAATG TAAGCATATT TGTAGAGATT TTCATCTTTT GTCATTTTGA
34250
TTCCTTTTCT TCTCTTTTGT AG
G
T
G
T
C
C
C
T
G
C
T
C
C
A
A
T
T
C
C
C
G
T
T
T
T
G
T
C
34300 | Exon 18
G V P A P I P V L S 551
A
G
T
G
A
C
A
C
A
G
A
C
T
T
T
G
A
C
C
A
C
T
G
G
A
C
C
T
G
A
T
T
C
A
G
C
T
G
T
A
T
C
C
C
A
A
G
C
T
C
34350
V T Q T L T T G P D S A V S Q A 567
A
T
T
T
A
A
C
A
C
C
C
T
C
T
C
C
A
G
T
T
C
C
T
G
T
G
T
C
A
A
T
A
C
A
G
G
C
A
G
T
T
A
A
C
C
A
G
C
C
C
34400
H L T P S P V P V S I Q A V N Q P 584
T
T
G
A
T
G
C
C
T
T
T
G
C
C
T
C
A
G
A
C
A
T
T
G
A
G
C
C
T
T
T
A
T
C
A
A
G
A
C
C
C
A
C
T
C
T
A
T
C
C
34450
L M P L P Q T L S L Y Q D P L Y P 601
T
G
G
G
T
T
T
C
C
T
T
G
T
A
A
T
G
A
A
A
A
G
G
G
A
G
A
T
C
G
A
G
C
C
A
T
T
G
T
A
C
C
A
C
C
T
T
A
T
T
34500
G F P C N E K G D R A I V P P Y 617
C
A
C
T
G
T
G
T
C
A
G
A
C
T
G
G
G
G
A
G
G
A
C
C
T
A
C
C
T
A
A
A
G
GTGAGCT CCTTCTCCAA
34550
S L C Q T G E D L P K 628
GTTCAAATCG ACTTTATCAA GTCCAAATAA GCTTAGTTAA GAAATGAAGA
34600
GATGTAAGTA GAGGTCAGAG GTCTGGTTTC TTAGTAAGCT CAAGGATGGG
34650
AAGGACAGCA AAGTTTTAGC TATTAGTCAG TCATTCTTGT TTCAGCTTGA
34700
TTTATTAGAA AATGTATTAT AA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
34750 |
REPEAT
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
C
G
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
T
C
G
G
C
T
C
A
34800
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
A
G
A
T
T
C
A
A
A
C
A
A
T
T
C
T
C
C
C
A
C
T
T
C
A
G
C
A
T
C
C
T
34850
G
A
G
T
A
G
C
T
G
G
G
A
T
G
A
C
T
A
C
A
G
G
C
A
C
A
T
G
C
C
A
C
C
A
G
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
34900
T
G
T
A
T
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
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
34950
G
A
T
C
T
C
C
C
G
A
C
C
T
C
G
T
A
A
T
C
T
G
C
G
T
G
C
C
T
T
G
G
C
C
T
C
C
C
G
A
A
G
T
G
C
T
G
G
G
T
35000
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
T
G
G
C
C
CA GAAAATTTTT TTT
T
A
A
TGTT
35050 |
var(35044):[:0.04]
TCTAGCATAC TTGTTAATGC TAGTATGCTT AGTAATGATA CCTCCTTCTG
35100
TGTTTTTACA TAAATGGACT TGAAACCATT CTGAATTACA ATAATAATTT
35150
CACTAATTAG ATACCTAAAC ACTGTGGAGC TTTATCAACA CTGGTCTGCA
35200
TTTCAGACAT GCATCCGTGA AAAAGTTACA GAGAAAAGCA AATATAGTAT
35250
GTAGTGGCTG TTAAAGTACT ATATTTAGTA TGTCTTATTT TTGTTTAAAA
35300
AATTCTTTCA AAGTTTGCTT TCCCTCTTTA TTTTTAAGGA ATTTACACCT
35350
CCCTCCTTTT TAGTTTCCAA AATTTTATAT CTGTAAATTT GAGTAATGCA
35400
CTGACTACTA TATGCTGTTT ACCTGGATTT ATGTGGATGT TTTTGTTTTA
35450
TTAGTTAGTA GTTTGATGTT TGTGTCTATG AGTAACTGGC TCATGGCA
T
A
35500 |
var(35499):[A:0.32]
TGAATA
C
TTG GAAGAATATT ATCCTGCAAA TGATGCTACT AATAAGTTAG
35550 |
var(35507):[T:0.46]
GTTTTATGTT GATTTTACCA TTCTTCTCAA CATTTTTATT TCCTAATTTT
35600
TAAACCCCCA GAAAAGTTGA GAAAGAAAGC CACCTGAATG TCCTTTACCC
35650
AGATTCAGTT TTAATGAGAT AAAAATTTCA ATCTAAGCCA TTTTGGGATT
35700
TATATGCTAA CAGACAAAGC CTATTGAATC TGGAATTAAC CTTTGGGAAC
35750
AACCTGTTTT TGGGTTGTGT TATATTACAG TTTTTATCTA TGTTTTGTAT
35800
CACAGGCTAG AGAAGACAAT TATAGTAGGT AAAATTGTCT TTAGAACTAT
35850
ATATTTAATG AGGATGATTT AAAAAAATCT CTGCAGATAT ATAATTTTAA
35900
CAAGTGATTA CTTTTATTTT TAG
A
T
A
A
G
A
A
T
A
T
T
C
T
T
C
G
A
T
T
C
T
T
C
T
T
C
A
35950 | Exon 19
D K N I L R F F F 637
A
T
C
T
T
G
G
T
G
T
G
A
A
G
GTATTT ACATTTTATC ATCTTAAAAG TTATTTTATT
36000
N L G V K 642
CATTAATAGT GTTTTAAATT ATTACTAGTG TTAACTCTTA CCCTGTCAGT
36050
CAGTAACCTA AAGTTTACTA AATCTCATCA TTTTAAAAAC CAGCATTTTC
36100
AGTACTATAT CGTTTGTTTT TGGTGCTAGT AGAGGCTCCA GTTTTACTTA
36150
CTTTTTTGTC TTAACTGGTG ATGGCTTAAC CTGTGAGTAT ATTTAAGACA
36200
TAGCTGCATC TTTGGGCAGC CTAGTGGAAA TGCCCTTGCT GGGGAATAAT
36250
TAGATGTAAA T
C
T
G
G
G
C
T
T
G
A
A
G
T
T
C
T
G
C
T
C
C
A
T
C
A
C
T
C
T
T
T
A
G
C
T
G
A
A
T
36300 |
REPEAT
T
T
C
C
C
T
G
G
G
C
A
A
G
C
C
A
T
G
T
A
G
T
G
T
A
T
C
T
G
G
G
C
C
T
A
G
C
T
T
T
T
T
T
C
A
T
T
T
A
T
36350 |
var(36318):[A:0.01]
A
G
A
A
T
G
G
G
G
G
T
A
A
T
A
T
T
C
T
T
T
A
C
T
T
G
C
C
T
C
C
A
T
T
A
T
T
G
A
A
A
A
G
A
T
C
A
A
A
G
36400
G
A
A
A
T
A
A
C
G
T
G
T
A
CATCCTC CTATGTAAGA TAGTGTGGTT GTTGACTAGA
36450
AGAGCAGAGG TATCCTTTGG GAAGTGGTCA ACCTAGAAAT AGCTTTTCTT
36500
AGGTTGGAGA ACTCTGTCCT TGTTAAATGT TAGGTTTTCT CCTGACCTAG
36550
ATTAGTTTTT GTGGGTTCTA GACAGTTAAA CTATGAAACG AAGTGCCCTA
36600
CCTTTAGCCT GCTGACCACT TTCATAAAAA GAAACTTGAT TATTTTACTA
36650
TCTGCTGCAT TGCTTAATTT TAATGTATTT AATGTTGATT TTAATTGGTT
36700
AGCCAATTAG CTGGTTATAC TTTCTTCATA TTTTGGTTTT TAGCTGAACT
36750
CTTGCAGAGG AAGGATTTGG AATATTTCAT TTTCAACATT ATCCCTCCCT
36800
GATTAGAGGT CTAACTTAAT CCTTACATTC GGAGTACTCT TGGGGGC
T
C
C
36850 |
REPEAT
T
A
G
A
A
T
T
G
C
A
G
A
G
T
C
C
T
G
A
C
A
T
T
G
G
A
G
A
T
C
A
T
C
T
A
C
T
C
T
T
A
T
A
C
T
G
A
C
A
T
36900
T
C
C
C
A
G
T
A
A
A
A
C
A
A
A
T
T
C
A
G
A
T
G
T
T
A
A
C
T
G
G
C
C
T
G
C
A
T
G
G
G
G
T
C
A
C
A
C
A
G
36950
T
G
A
G
T
T
A
G
T
G
G
T
A
G
A
G
C
C
C
G
A
A
T
G
T
G
A
A
T
G
C
A
G
G
T
C
T
G
G
C
T
A
A
A
C
A
G
T
C
A
37000
G
T
G
ATGGAGA TACTATCTCC TATCAACCTA TGAGGACTTC AGATT
G
GTTT
37050 |
var(37046):[A:0.01]
TAGGACAGGA GCAAGCAATG GAGTCTTAAA GCAGTGAATT TTGTAATTCA
37100
TTTTCACGTT GGTTATCACA GTGATTTAGT ATTTGGACTA TAGATTATAT
37150
GGTCTTTGTA GGCATGAGAA ACTTATTTTG ACCCTAGTAC TTGTAGATTG
37200
ATATCCACCC AAACCTCTCT TTTTTCTCCT CTTTTGTTTA TTTAACTG
T
T
37250 |
var(37249):[:0.01]
TTTTGTCTCT TCAG
G
C
A
T
A
C
A
G
T
T
G
T
C
C
T
A
T
G
T
G
G
G
C
C
C
C
A
C
A
T
T
C
T
T
A
C
37300 | Exon 20
A Y S C P M W A P H S Y 654
C
T
G
T
A
C
C
C
T
C
T
G
C
A
C
C
A
G
G
C
C
T
A
C
C
T
G
G
C
A
G
C
C
T
G
C
A
G
G
A
T
G
T
A
C
C
C
A
A
A
37350
L Y P L H Q A Y L A A C R M Y P K 671
G
G
T
C
C
C
T
G
T
C
C
C
T
G
T
T
T
A
T
C
C
T
C
A
T
A
A
T
C
C
C
T
G
G
T
T
C
C
A
A
G
A
G
G
C
T
C
C
T
G
37400
V P V P V Y P H N P W F Q E A P 687
C
T
G
C
T
C
A
G
A
A
T
G
A
A
A
G
T
G
A
T
T
G
T
A
C
C
T
G
T
A
C
T
G
A
T
G
C
C
C
A
C
T
T
T
C
C
T
A
T
G
37450
A A Q N E S D C T C T D A H F P M 704
C
A
G
A
C
T
G
A
G
G
C
C
A
G
T
G
T
T
A
A
T
G
G
T
C
A
A
A
T
G
C
C
A
C
A
G
C
C
A
G
A
G
A
T
T
G
G
A
C
C
37500
Q T E A S V N G Q M P Q P E I G P 721
G
C
C
G
A
C
A
T
T
T
T
C
T
T
C
A
C
C
T
C
T
G
G
T
T
A
T
C
C
C
T
C
C
A
T
C
T
C
A
G
G
T
G
T
C
T
G
A
A
A
37550 |
var(37534):[G:0.01]
P T F S S P L V I P P S Q V S E 737
G
T
C
A
T
G
G
A
C
A
A
T
T
G
T
C
T
T
A
C
C
A
G
G
C
T
G
A
T
C
T
T
G
A
A
T
C
T
G
A
G
A
C
C
C
C
T
G
G
G
37600
S H G Q L S Y Q A D L E S E T P G 754
C
A
G
C
T
T
C
T
G
C
A
T
G
C
T
G
A
T
T
A
T
G
A
A
G
A
G
T
C
A
C
T
A
A
G
T
G
G
C
A
A
G
A
A
T
A
T
G
T
T
37650 |
var(37627):[A:0.01]
Q L L H A D Y E E S L S G K N M F 771
C
C
C
C
C
A
G
C
C
A
T
C
T
T
T
T
G
G
A
C
C
C
A
A
T
C
C
A
T
T
C
T
T
A
G
G
C
C
C
A
G
T
T
C
C
T
A
T
T
G
37700
P Q P S F G P N P F L G P V P I 787
C
A
C
C
T
C
C
T
T
T
C
T
T
T
C
C
T
C
A
T
G
T
T
T
G
G
T
A
T
G
G
G
T
A
C
C
C
T
T
T
T
C
A
G
G
G
A
T
T
C
37750
A P P F F P H V W Y G Y P F Q G F 804
A
T
A
G
A
A
A
A
T
C
C
A
G
T
A
A
T
G
A
G
G
C
A
G
A
A
T
A
T
T
G
T
C
C
T
G
C
C
C
T
C
T
G
A
T
G
A
A
A
A
37800 |
var(37753):[C:0.02]
I E N P V M R Q N I V L P S D E K 821
A
G
G
A
G
A
A
T
T
G
G
A
T
C
T
G
T
C
T
C
T
G
G
A
A
A
A
T
C
T
G
G
A
T
C
T
G
T
C
T
A
A
A
G
A
T
T
G
T
G
37850
G E L D L S L E N L D L S K D C 837
G
T
T
C
A
G
T
T
T
C
A
A
C
A
G
T
A
G
A
T
G
A
G
T
T
T
C
C
A
G
A
A
G
C
C
A
G
G
G
G
T
G
A
A
C
A
T
G
T
A
37900
G S V S T V D E F P E A R G E H V 854
C
A
T
T
C
T
C
T
C
C
C
T
G
A
A
G
C
A
A
G
T
G
T
G
A
G
C
A
G
T
A
A
G
C
C
G
G
A
C
G
A
A
G
G
C
C
G
G
A
C
37950
H S L P E A S V S S K P D E G R T 871
A
G
A
G
C
A
A
T
C
T
T
C
C
C
A
G
A
C
A
C
G
A
A
A
G
G
C
A
G
A
T
A
C
G
G
C
A
T
T
G
G
C
T
T
C
C
A
T
C
C
38000
E Q S S Q T R K A D T A L A S I 887
C
T
C
C
T
G
T
A
G
C
A
G
A
G
G
G
A
A
A
G
G
C
T
C
A
T
C
C
T
C
C
C
A
C
T
C
A
G
A
T
T
C
T
A
A
A
C
A
G
A
38050
P P V A E G K A H P P T Q I L N R 904
G
A
G
A
G
A
G
A
A
A
C
T
G
T
G
C
C
T
G
T
T
G
A
A
C
T
T
G
A
A
C
C
T
A
A
A
A
G
G
A
C
C
A
T
T
C
A
A
A
G
38100
E R E T V P V E L E P K R T I Q S 921
C
C
T
G
A
A
A
G
A
A
A
A
A
A
C
A
G
A
A
A
A
A
G
T
A
A
A
A
G
A
T
C
C
T
A
A
G
A
C
T
G
C
T
G
C
T
G
A
T
G
38150
L K E K T E K V K D P K T A A D 937
T
G
G
T
C
A
G
C
C
C
T
G
G
G
G
C
C
A
A
C
T
C
T
G
T
T
G
A
T
A
G
C
A
G
A
G
T
G
C
A
A
A
G
A
C
C
A
A
A
A
38200
V V S P G A N S V D S R V Q R P K 954
G
A
A
G
A
G
A
G
T
T
C
A
G
A
A
G
A
T
G
A
A
A
A
T
G
A
A
G
T
G
T
C
T
A
A
T
A
T
T
T
T
G
A
G
A
A
G
T
G
G
38250
E E S S E D E N E V S N I L R S G 971
T
A
G
A
T
C
C
A
A
G
C
A
G
T
T
C
T
A
T
A
A
T
C
A
A
A
C
T
T
A
T
G
G
A
A
G
C
A
G
G
A
A
G
T
A
C
A
A
A
A
38300
R S K Q F Y N Q T Y G S R K Y K 987
G
T
G
A
T
T
G
G
G
G
C
T
A
T
T
C
T
G
G
T
A
G
G
G
G
T
G
G
A
T
A
T
C
A
A
C
A
T
G
T
G
A
G
A
A
G
T
G
A
G
38350
S D W G Y S G R G G Y Q H V R S E 1004
G
A
G
T
C
C
T
G
G
A
A
A
G
G
A
C
A
G
C
C
A
A
G
C
A
G
A
A
G
T
C
G
G
G
A
T
G
A
A
G
G
T
T
A
T
C
A
G
T
A
38400
E S W K G Q P S R S R D E G Y Q Y 1021
C
C
A
T
C
G
A
A
A
T
G
T
C
A
G
A
G
G
G
C
G
A
C
C
A
T
T
T
A
G
G
G
G
A
G
A
T
A
G
G
A
G
G
A
G
A
T
C
A
G
38450
H R N V R G R P F R G D R R R S 1037
G
G
A
T
G
G
G
A
G
A
T
G
G
C
C
A
T
A
G
G
G
G
A
C
A
G
C
A
C
A
C
T
T
G
A
T
G
GTT GTTGCCGAAG
38500 |
UTR
G M G D G H R G Q H T 1048
TATTTTCTAA CAGAAACTCT TAGGTGGAAT GTTTCTGAAG GCTTTAAAAA
38550
AAATACAATA AAGTAAAAAC CGCAGTTGGA ACTCTTTCCT CTCCCCAGCC
38600
CCCCTTACCT TCACTCCCAT ACTGGACAAG ACATTTTGGA CATGAGTTCA
38650
AGGGGGCAGG TTAATTCCTG GCATTGCCAG TTTTCTTCAT TCAGAATCTG
38700
TTTGTT
G
ATC AAGTGACTGT CCCCGTAAAA AGTAGAAGAT AAGTTTGTTA
38750 |
var(38707):[T:0.02]
AAGTATTTTT TATAAACAGC TTAATATAAA ACATTATAGA TTTAGTGTTT
38800
GGCTTTTTTC CTTATAAGTT T
A
TAAGTTTG ATTTCAGATG TTGGAAA
T
GT
38850 |
var(38822):[G:0.02]
|
var(38848):[C:0.01]
GTGCTTTATA GTGTTTACTA AAGTGACAAG AAAATATACC ATTTGACACA
38900
CTATAGATTC CAAACATAAC GTTGCACCAA ATAGAAATGT ATATTTTATT
38950
ATGCAATGCC TTAGTCATAA ACTGGGCTCA AACAATTCTC AGCCTAAAAC
39000
ACTGTTGTCT TTTAAAATGC TTCCAACCCA AAGGCCTTTC ATCTCAATAT
39050
CTGTCAAACT TGAATAATGT CTTCTCTTTA ATATTCACAT AAGGCAGCCT
39100
ATTAACTGTG TCTTAGCAAT GTTGTATATA GTTCTTTTAA TATTCATAAG
39150
GTATATTTTT GAATTTTGGT ATTTGTTGAG ATTGCATAGA AGAATAGTAG
39200
GAAATCCAAT GAAATGGCTG TTTCCACCAA GAATTCTTAG CA
C
TGGTGTA
39250 |
var(39243):[G:0.01]
AATATCATGG TGCCTACTCG AAAGAAATGT AGATGCTATG CATTTTGAAA
39300
ATAATCTGCA TCAGTTAGAA CTGCAGAAGT TTTTTTAATG CCACTTTAAC
39350
ACTAATGCAC TGACAGATTC TAAATATTTT GTGAGAAGAA ATGTTAAAAA
39400
TTTTTAGCTT GACAGGTTTC TAGAGTTGTT TTCTTCCTCC CCCCCCCCCC
39450
CGCACCATTG GTTGTGTATC ACTTTCACTT TACACTTGCA TGTTCTACTT
39500
GTCAGGGCTG GAACTATTGT ATAGAAGATA ATATGATTGT GACTTCT
A
GT
39550 |
var(39548):[:0.05]
TCTTTTCTAG AGGATGCTGC TAGAAAATGG TTTTGCTTTG TATTTTATAG
39600
CTTGTTACCC TTAGGTAGGT AACATCTTAC ATTCTGTTTT CTTCCAGTCT
39650
TTGCAGTATT CACTAGAGGT TCCCTTTGCA TGTTGCACTC TGTTCTCATT
39700
TGGAGATTGA ACTCTGAATT AACACAGTAT TCATTCATCT GTGTTATTTT
39750
GTAAAAATAA CTGTAGCTTA TATTCTTTAT TTGTGCATAC CAATGTGAAA
39800
ATCCACTCTT TTATTATGTT GAGATTATCT TCTGATCAGG AAGTTTGAGT
39850
GCTATGCAAA TAACATAGTA GTAATTTCTC TTTGCATGCC ATGTGTAATA
39900
TACCTAGCCA AAACCAGATG CGGTGACTTT CTTTTTTTGT AAAGCAAATT
39950
ACTTAAGAAA ATACAATTCA CTTGAATTTG ACAAACTGAA ACAGATGGGT
40000
TTTCTGGGTT CTCTGATAAC CTATGGGAAT GTTTGGATGC CAGTTGGGCT
40050
AGTGAATCGC CACTGTACTG TAATAATGGT TATTTACCTC TGTGCTGTTT
40100
TAATTACCTA ACGTCTGTGT AACTGCTGAT TTGAGTAGTG ATTAGCATTT
40150
AGATAATGTA ACAGGATTTT AGAGAGCACT
T
TGAAAGATA ACATTTTATT
40200 |
var(40181):[C:0.01]
ATGATGGTGC TAGGTAAAAA ATTGTAAAGA CTGGGATGGT TG
T
GTGGAAA
40250 |
var(40243):[G:0.02]
ACTTTTCTTG AGAGAACCTA TTGAAAGGAA TTTGTTGTCA CCTTCTTAAC
40300
TAGAATAGTT GTTGAAGGTA CCGCTTAAGC CATTTTTTTC TTAACATCGG
40350
TGGCTCAGTT AAGGAATGAG AAGATAGAGG GTCCTCCACT TTCAGCTCAT
40400
GCTTTTTTAT GTAGGACTAG CTTAC
C
TGAT TTTAATGAAA ATCACATTTT
40450 |
var(40426):[G:0.01]
GATACAAACA CCAGATTTGA AAGTTCAATG TGTTTGATCT CAGGAGTCCA
40500
AAATAAGTTG TTGCTTCTAG TGTCCTGCAT TTTATTGACT GGGGTTTGAT
40550
CTCAGCTTCT GAAAATGTTT AAAAATTGGA AGGAAATACT ACTCATATCT
40600
TCATTGTCAC TTTGTCTTAC CTCAATTGAG TAACAGAATA TAGCTCCTGA
40650
AGGAAACACT GATTTGCTTT CTGTTTCCCA TATCTCACCT CTAGGATATG
40700
ATGGAAGAAG TGCTTGAAAG AGAATTTTAG CAGATGGTAC TTTTCT
C
AGT
40750 |
var(40747):[T:0.18]
GACCTCTGGA ATAAAAGAAC TGACTTTTGA TAGTTTTAAA ATTAATCTTT
40800
GCATGAAGGT TGGTTTCGCT TTTTTTCCT
T
TTAAG
T
T
T
G
T
T
T
T
T
A
A
A
T
G
T
40850 |
var(40830):[:0.97]
| Exon 21 |
UTR
A
T
T
A
G
T
C
C
A
G
G
G
G
A
T
T
T
T
G
C
C
T
T
A
T
G
C
T
G
A
G
G
T
C
A
A
A
C
T
A
A
G
G
A
T
A
A
G
C
A
40900
A
G
C
T
T
T
T
G
T
C
C
T
T
C
A
T
T
T
T
A
A
C
T
G
T
T
A
T
G
T
C
A
T
A
C
T
G
T
T
A
T
G
T
T
G
A
C
A
T
A
40950
T
T
T
C
T
T
T
A
T
A
A
G
A
G
A
A
T
A
G
A
G
G
C
A
A
A
A
G
T
A
T
A
G
A
A
C
T
G
A
G
G
A
T
C
A
T
T
T
G
T
41000
A
T
T
T
T
T
G
A
G
T
T
G
G
A
A
A
T
T
A
T
G
A
A
A
C
T
T
C
A
C
C
A
T
A
T
T
A
T
G
A
T
C
A
T
A
C
A
T
A
T
41050 |
var(41028):[T:0.04]
T
T
T
G
A
A
G
A
A
C
A
G
A
C
T
G
A
C
C
A
A
A
G
C
T
C
A
C
C
T
G
T
T
T
T
T
T
G
T
G
T
T
A
G
G
T
G
C
T
T
41100
T
G
G
C
T
G
A
A
C
T
T
G
A
T
T
C
C
A
G
C
C
C
C
C
T
T
T
T
C
C
C
T
T
T
G
G
T
G
T
T
G
T
G
T
A
T
G
T
C
T
41150
C
T
T
C
A
T
T
T
C
C
T
C
T
C
A
A
A
T
C
T
T
C
A
A
C
T
C
T
T
G
C
C
C
C
A
T
G
T
C
T
C
C
T
T
G
G
C
A
G
C
41200
A
G
G
A
T
G
C
T
G
G
C
A
T
C
T
G
T
G
T
A
G
T
C
C
T
C
A
T
A
C
T
G
T
T
T
A
C
T
G
A
T
A
A
C
C
C
A
C
A
A
41250
A
T
T
C
A
T
T
T
T
C
A
T
G
G
C
A
G
A
C
C
T
A
A
G
C
T
C
A
G
A
C
C
C
T
G
C
C
T
T
G
T
C
C
T
G
G
C
A
A
G
41300
C
A
T
A
G
G
T
T
T
T
C
C
C
A
G
A
C
C
A
C
A
A
T
G
C
T
G
A
T
A
T
A
T
C
T
T
A
T
T
T
A
A
T
G
C
A
G
A
C
T
41350
G
T
A
T
T
C
T
T
G
C
A
G
C
G
T
G
T
T
G
T
T
T
C
C
T
T
T
G
T
G
A
C
T
C
A
A
G
G
T
T
G
A
A
T
T
A
A
A
A
T
41400
G
C
C
T
G
T
G
A
A
C
T
G
C
A
A
A
C
T
T
G
C
T
T
A
T
G
A
T
T
G
A
C
T
T
G
G
T
G
C
A
A
T
A
A
A
G
T
T
C
C
41450
T
T
T
C
T
A
A
C
C
A
T
T
T
C
T
G
G
T
T
T
A
G
A
A
A
A
C
A
T
T
C
A
G
C
C
A
T
C
C
T
A
G
A
A
A
C
T
A
G
C
41500
A
A
T