SERPING1 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
G
A
T
A
T
T
A
G
G
T
A
G
A
T
C
A
A
T
T
A
A
T
T
T
C
T
C
T
G
A
G
C
C
T
C
A
T
T
T
T
A
A
C
T
T
G
T
T
T
A
50 |
REPEAT
A
G
A
T
G
G
G
A
T
T
A
A
T
A
T
A
G
C
A
C
C
T
A
C
T
T
C
A
T
A
G
G
T
G
A
T
G
A
G
A
A
T
T
A
G
T
G
A
G
A
100
G
G
A
T
G
A
A
T
G
T
A
A
A
TGCATGG TGAGCACTCA GTGA
A
TTAGG TTGCTTTCCA
150 |
var(135):[G:0.01]
CCACCTTCTT TTCCTTTGGC TGACCCATTT CCCAGAATCC ACAAGCTCAT
200
AGTCCCTTTG AGCCCACCAG CTTGAGCACT GGGGATGGAG AAACGTTGTT
250
TTGTGTGCAG CTGTTCAAAC GATGGCTCTG ATGTTA
T
ATA ACTTTCCCAT
300 |
var(287):[C:0.02]
GGTTTAGGAG GTTCCCAAGT GGCTTCAGAG AATAAAGCAC AAAGCTGGGG
350
AAGACTCTT
T
CTGGGTCTTG TCCAAGGACC CCCGA
G
GAGA CACACAAATA
400 |
var(360):[C:0.02]
|
var(386):[A:0.09]
TTCTCCTGTT TCTGTCCTTG GTCAGTCCCT TAGAGTAGCA GTTCTGGTGC
450
TAGCAGCAAA CTTTCCTGAA TGCTCCAAAC ACAGCCAGAG GATAGGCCTG
500
CAGTGAGATG ACGATAGAAC ATGATAGCTA TATTAGGTCA TCAGAGACAA
550
CCTGTTTGTT TTGCAGATGA GGC
A
G
A
G
T
T
A
T
C
A
G
A
T
T
T
A
G
C
A
A
A
A
A
T
A
C
A
600 |
REPEAT
A
A
A
T
G
C
C
A
A
T
T
A
T
A
T
T
T
G
A
A
T
T
T
C
A
G
A
T
A
C
A
C
A
A
C
A
A
T
G
A
C
A
A
C
A
A
A
A
T
T
650 |
var(604):[C:0.09]
T
A
T
T
T
T
A
C
C
A
T
A
A
G
T
A
T
A
T
T
C
C
A
A
TGTAAG CATTTTTACC ATAAGTATAT
700
CCCAATGTAA G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
G
A
G
A
C
A
G
C
A
A
G
T
G
T
C
T
T
A
C
T
C
750 |
REPEAT
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
C
A
T
G
A
T
C
A
A
T
G
C
T
A
A
C
T
G
C
A
G
C
C
T
T
800
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
G
G
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
T
C
T
C
C
T
A
A
A
A
G
G
C
T
G
G
850 |
var(819):[C:0.03]
G
A
T
T
A
C
A
G
G
T
A
T
G
A
A
C
C
C
C
C
A
G
G
C
C
T
G
C
C
T
A
C
T
T
C
G
T
G
T
G
T
T
T
T
ATCTGG
900
CAATGCTGAG AGGACAGCTA GATGTCGAGG ACAGCCAGAT TTCGAGGACA
950
GCCAGACGTC AAGGGGGAAA GCAACTTGCT GGCTCACACA GCCAGCCAGG
1000
TCTA
T
TGTGG AGCCCTAGTC GCAAACACAT ACACCCCAGC TTTCA
A
GTTT
1050 |
var(1005):[C:0.03]
|
var(1046):[G:0.01]
TTAAATATTT ATTTAGTTAG
T
T
A
T
T
T
G
T
T
T
T
T
T
G
A
G
A
C
A
G
T
C
T
T
G
C
T
C
T
G
1100 |
REPEAT
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
A
A
T
T
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
1150
C
C
T
C
C
C
A
G
A
T
T
C
A
A
G
T
G
A
T
T
G
T
G
C
C
T
C
A
G
C
C
T
C
C
C
T
A
G
T
A
G
C
T
G
G
G
A
C
T
A
1200
C
A
T
G
T
G
C
G
C
G
C
C
T
G
C
A
C
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
C
T
T
T
T
A
G
C
G
G
A
A
A
C
1250
G
G
G
G
T
T
T
C
C
C
C
A
T
A
T
T
G
G
C
C
A
G
A
G
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
1300
A
T
C
C
A
C
C
C
A
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
G
G
C
G
T
G
A
G
C
C
A
C
1350
C
G
T
G
C
C
C
G
G
C
T
AGCTTTTTT TTTTTTTTTT TTTTTAATTA GGTTGAATGC
1400
TTGTTGAGCT GGGTGCCTCA CATCCGTTGT CTGTTATACA AAGAACTACT
1450
GATTATGGGT CTCTACGAGC AAAAATGGCA GAACACCTAC AGGGCACAGG
1500
GGAGATGGGA GCAGGGATTA GGCTTCAGAA TACTTCTCCA AATGAGG
G
T
G
1550 |
REPEAT
A
T
C
A
G
G
G
C
C
C
G
A
C
A
T
T
T
C
A
C
T
G
C
T
C
T
A
A
G
G
C
T
C
A
G
T
A
T
C
T
T
A
A
C
T
A
T
C
A
A
1600
A
T
G
G
G
T
A
C
A
A
T
G
G
G
G
C
A
C
A
A
A
G
G
G
T
T
A
C
T
T
T
G
A
G
G
A
A
T
A
A
C
G
G
A
G
GTGAG
1650
CAATTTCCAA AAAGTTCATT CCTTTAAAAA CTGCGGAGCA CATTTTGTGT
1700
ACATGCTGTT TTTATTGTTA CTCATGAAGA CGCGGGGGAA GCTTTGGTTG
1750
TGTAAAGCTG AGAACTGCAC CCAAGCTTCC CCGTTCACCC CACCTACCAG
1800
GGGATTTGGG CTAAATTCCT GGCCTGGCCC ACAAAGAAGA CCAAGCGGTC
1850
AGTCCCATTC CGTCCCATCC TGATTTACAG GAACTCACAC CAGCGATCAA
1900
TCTTCCTTAA TTTGTAACTG GGCAGTGTCC CGGGCCAGCC AATAGCTAAG
1950
ACTG
C
CCCCC CCCGCACCCC ACCCTCCCTG ACCCTGGGGG ACTCTCTACT
2000 |
var(1955):[:0.98]
C
A
G
T
C
T
G
C
A
C
T
G
G
A
G
C
T
G
C
C
T
G
G
T
G
A
C
C
A
G
A
A
G
T
T
T
G
G
A
G TAGGTTTGGT
2050 | Exon 1 |
UTR
GCTGGGCAGG GGTGGGGAGT AGGGTGGAAA GCATGGAGTG AAGAGGTCTA
2100
GGGAGGGGGT CTCCTCACCC CCGCCTTCCT GCCCGCCTTG ATCTCGGGGG
2150
TCTCTATAGG CTTGCTTCCA CCTGGGACTT CTGCCTCCTC CTACCCCAGC
2200
CCCTCCCGC
C
TCAGGCCTGT TGTGCTCAGC CCCCCAGGAC CTCCCCTCCC
2250 |
var(2210):[T:0.01]
CCACGCCTCT GGCCTCATTG TTTGGTTAAA
G
CAGGACCCC CTCCCCCTCC
2300 |
var(2281):[C:0.01]
CACCACCTCC CCTCCGACTG AACAGATGGA CAGAGACCCG GGCCCACGGG
2350
GAG
A
GGAAGG GCCAGCCGGT GCCGGGAAAG GGAAGCGGTT TGGGGAAAAC
2400 |
var(2354):[G:0.02]
AAAACAGAGG GAGGAGCCAG GGAGAAGGTG GCCCCAGGAG GGAGGAGGAG
2450
GGAATTCGCT AAGAGGGACT GGGGCC
T
GAG ACGGAATGGG GGCGGGCCCC
2500 |
var(2477):[G:0.01]
GGGCGGGGTG GGGGCCCCTG GGCTCCCAGG GTGGGAGCTG GCTCCGAGGC
2550
TGGCTGGCTC CGCAG
G
T
C
C
G
C
T
G
A
C
G
T
C
G
C
C
G
C
C
C
A
G
A
T
G
G
C
C
T
C
C
A
G
G
C
2600 | Exon 2 |
UTR
|
var(2567):[C:0.03]
M A S R 4
T
G
A
C
C
C
T
G
C
T
G
A
C
C
C
T
C
C
T
G
C
T
G
C
T
G
C
T
G
C
T
G
G
C
T
G
G
G
GT ATGTGGTCCC
2650
L T L L T L L L L L L A G 17
TTGTGGGATG GGGGACGGGG GTGGAGACGG GAGGCGGGAT GGTGCGGGGT
2700
GCGGGCGGTG GCTGAGGATT AACCCTTCAG GCTCCGGG
G
A ATGAGGAGAG
2750 |
var(2739):[A:0.10]
CTCCTCTTGG GATCATTGAG TGTGATCCTT GCACACGCAC TCGTAG
A
T
G
G
2800 |
REPEAT
T
G
G
A
A
A
G
A
G
C
T
C
A
G
G
A
C
T
C
A
G
A
C
A
G
A
T
G
C
A
A
G
T
T
C
T
A
A
T
C
T
T
G
G
C
G
G
G
C
C
2850
A
T
G
T
A
G
G
A
G
C
T
G
C
G
C
A
G
C
G
T
G
G
T
C
C
T
G
A
G
G
A
C
G
T
C
A
C
T
T
T
T
C
T
C
A
G
C
C
T
A
2900 |
var(2851):[G:0.01]
C
T
C
C
T
C
C
T
G
A
T
T
T
A
T
A
A
A
A
T
G
T
T
G
A
A
T
A
A
A
C
A
G
A
T
C
C
C
A
C
C
C
T
G
T
C
C
A
C
C
2950
A
A
G
C
A
G
G
C
T
T
G
G
C
A
G
G
A
G
G
A
T
C
A
C
A
T
A
G
G
G
C
A
A
G
G
A
G
A
T
G
G
G
A
A
G
C
A
T
T
T
3000
TGTGATATCA AAGCAAGAGT TTGTTGTAGA AAAGAGCTGT GGGGAGGAGA
3050
GGTTTGGCTG CTGTGACACA GACGGTGGTC CCAGGCTAGG GCCTGTGAAG
3100
ACAGGGAAGA ATGGTAGCAA ACATACGTGG GTCTGGGTGG GGGTCAATAG
3150
CAGTGAGAGG TCCCAGTGGT CTGGGAGGTC ATGGACTAGA AATAAGGCTA
3200
AGAAGTGCAG GATCCCAGGA GAAAGGTAGG TAGGGGTGTG TGTATGTGCG
3250
T
G
TGTGTGTG TGTGTGCACG CGCAAGTTGG TATCACATAC TCAGCAGATG
3300 |
var(3251):[:0.63]
AT
G
T
A
G
T
T
A
T
G
A
G
C
A
G
G
G
A
G
T
T
T
G
G
A
A
T
C
A
G
A
G
A
C
C
T
T
G
T
T
T
T
G
A
C
C
C
C
T
3350 |
REPEAT
A
G
C
T
G
T
T
T
C
T
C
C
C
A
T
T
T
C
T
G
T
G
A
G
A
C
C
C
T
G
G
A
C
T
A
G
T
T
A
A
T
A
T
G
T
G
T
C
G
G
3400
T
A
T
G
A
G
T
T
T
C
T
C
T
A
C
C
T
G
T
G
A
A
A
T
G
G
A
G
C
T
A
A
T
GCGT
G
G
T
T
T
C
T
C
A
G
T
G
G
3450 |
REPEAT
A
G
G
A
T
C
T
G
T
T
G
A
C
A
T
T
G
G
G
G
C
T
G
G
A
T
A
A
T
T
C
A
T
T
G
C
T
G
A
G
G
G
G
C
T
A
C
C
C
T
3500
G
C
G
C
A
T
T
T
T
A
G
G
A
T
G
T
T
T
T
G
C
A
G
T
A
T
A
T
C
T
C
T
A
G
C
C
T
C
T
A
C
G
C
A
C
T
A
G
A
T
3550 |
var(3502):[T:0.37]
T
C
C
G
G
T
A
G
C
A
T
C
T
T
C
C
C
T
G
C
T
G
T
C
T
C
C
C
T
G
T
G
A
C
A
A
C
C
A
A
A
A
A
T
G
T
C
T
C
T
3600
G
G
A
C
A
T
T
G
C
C
A
A
A
T
A
T
C
C
C
C
T
G
G
G
A
G
T
C
A
A
A
A
T
T
G
T
T
T
C
A
G
A
G
C
C
G
C
T
G
G
3650
CCTATACTAC TTCTCTCTCC CTCCCTTCCT GCCTCCCTTC TTTCCTCCTT
3700
CCCTTTCTTC GTTCCCTTCC TAATGTGTAC TGTTT
T
T
C
C
A
C
A
C
C
C
A
C
T
A
A
3750 |
REPEAT
T
G
G
G
T
T
G
C
A
A
C
C
C
A
C
A
G
T
T
T
A
A
A
A
A
TTTAC TGTTCTAAAT CAAGGAGCAC
3800
AAGTTCAAAT GTCTGTACTA GCCAAGCAAG TGAGTCAAAC AGGTAGATAT
3850
TTACAGGAAA TTGCAAGAAC ATAGATAAAT GACAACACTC AGCTTCACTG
3900
TTTGGAAAAC AACTTCCTAC AGGGCAGTAA TTGGTCAGAG ATTACAGAGT
3950
CCCTGACTAT CCCTCATCTT CTGCAGAGCA CATTCCTGTG CACCCCCACC
4000
CTCACCCTGT ATTGCCCCTT CTCTGAGGAA TTAGTGGTGG TGGTTCTAAG
4050
ACAGATTGCT CATCTGC
C
GC ACTGTCAGAA ATTACTCTCT TGTACAGGAC
4100 |
var(4068):[T:0.35]
ATTTTCCACA TCCACACCTT CTCTTCCTGC TTTGAGTATT TTAGAGGACT
4150
GTGCCTCGTA GTAAGAAAAA AATGAAACTC AGTTTCTTGA ACCACAG
G
A
T
4200 | Exon 3
D 18
A
G
A
G
C
C
T
C
C
T
C
A
A
A
T
C
C
A
A
A
T
G
C
T
A
C
C
A
G
C
T
C
C
A
G
C
T
C
C
C
A
G
G
A
T
C
C
A
G
A
4250
R A S S N P N A T S S S S Q D P E 35
G
A
G
T
T
T
G
C
A
A
G
A
C
A
G
A
G
G
C
G
A
A
G
G
G
A
A
G
G
T
C
G
C
A
A
C
A
A
C
A
G
T
T
A
T
C
T
C
C
A
4300
S L Q D R G E G K V A T T V I S 51
A
G
A
T
G
C
T
A
T
T
C
G
T
T
G
A
A
C
C
C
A
T
C
C
T
G
G
A
G
G
T
T
T
C
C
A
G
C
T
T
G
C
C
G
A
C
A
A
C
C
4350
K M L F V E P I L E V S S L P T T 68
A
A
C
T
C
A
A
C
A
A
C
C
A
A
T
T
C
A
G
C
C
A
C
C
A
A
A
A
T
A
A
C
A
G
C
T
A
A
T
A
C
C
A
C
T
G
A
T
G
A
4400
N S T T N S A T K I T A N T T D E 85
A
C
C
C
A
C
C
A
C
A
C
A
A
C
C
C
A
C
C
A
C
A
G
A
G
C
C
C
A
C
C
A
C
C
C
A
A
C
C
C
A
C
C
A
T
C
C
A
A
C
4450
P T T Q P T T E P T T Q P T I Q 101
C
C
A
C
C
C
A
A
C
C
A
A
C
T
A
C
C
C
A
G
C
T
C
C
C
A
A
C
A
G
A
T
T
C
T
C
C
T
A
C
C
C
A
G
C
C
C
A
C
T
4500
P T Q P T T Q L P T D S P T Q P T 118
A
C
T
G
G
G
T
C
C
T
T
C
T
G
C
C
C
A
G
G
A
C
C
T
G
T
T
A
C
T
C
T
C
T
G
C
T
C
T
G
A
C
T
T
G
G
A
G
A
G
4550
T G S F C P G P V T L C S D L E S 135
T
C
A
T
T
C
A
A
C
A
G
A
G
G
C
C
G
T
G
T
T
G
G
G
G
G
A
T
G
C
T
T
T
G
G
T
A
G
A
T
T
T
C
T
C
C
C
T
G
A
4600
H S T E A V L G D A L V D F S L 151
A
G
C
T
C
T
A
C
C
A
C
G
C
C
T
T
C
T
C
A
G
C
A
A
T
G
A
A
G
A
A
G
G
T
G
G
A
G
A
C
C
A
A
C
A
T
G
G
C
C
4650
K L Y H A F S A M K K V E T N M A 168
T
T
T
T
C
C
C
C
A
T
T
C
A
G
C
A
T
C
G
C
C
A
G
C
C
T
C
C
T
T
A
C
C
C
A
G
G
T
C
C
T
G
C
T
C
G
GTAA
4700
F S P F S I A S L L T Q V L L 183
GACCCTGCTT GAATTCTCTC CAGGTCATTT GTTGGACACT CCCATAAGAG
4750
TCACCAATCC AGACACTTAC AAAGCCATGC CTCTGGGAAG AAGCTGTAAA
4800
AATGGGCTAT TATATATTGG GGGTGGGGTA GAGGGATGTA TCTTTTCATT
4850
CTTGAACATT CCATCATTTC ACAGTGATGT AATAGGCACG ATTGCTTGTA
4900
AAACTCTGTG ACTATACAAG AACAT
A
T
A
A
A
A
T
A
A
G
G
T
C
G
C
A
G
C
C
A
C
T
A
A
C
4950 |
NOT SCANNED
C
A
T
G
T
T
T
C
A
T
G
G
C
A
A
G
G
A
G
A
G
G
T
G
A
T
A
A
G
A
A
A
G
A
T
G
A
A
A
T
T
A
G
G
C
G
C
A
G
T
5000 |
REPEAT
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
A
A
G
G
C
G
G
G
T
G
G
A
T
C
A
5050
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
5100
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
T
C
A
G
G
G
A
G
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
G
T
A
A
5150
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
C
A
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
G
5200
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
C
C
G
C
A
C
C
A
T
T
G
C
A
C
T
A
C
A
G
T
C
T
G
G
G
T
G
A
5250
C
A
G
A
G
C
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
T
T
A
T
C
A
G
A
G
A
T
A
G
A
C
C
5300
T
A
G
A
G
T
A
G
A
T
G
T
G
G
T
T
A
G
T
A
C
T
G
C
C
T
T
C
T
A
G
C
T
C
T
G
T
G
A
C
C
T
T
G
G
G
C
A
G
A
5350 |
REPEAT
T
C
A
C
T
T
T
A
A
C
C
T
C
T
C
T
G
A
G
C
C
T
T
G
A
G
T
C
C
T
C
T
T
G
T
G
T
A
A
A
A
T
A
G
T
G
A
T
G
A
5400
T
G
C
T
A
T
C
T
A
C
C
T
C
A
A
A
A
G
A
T
T
A
A
G
A
A
G
C
A
G
A
A
A
G
C
C
A
G
G
C
C
G
G
A
T
G
C
G
G
T
5450 |
REPEAT
G
G
T
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
A
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
5500
C
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
T
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
5550
C
T
A
C
T
A
A
A
A
A
T
A
A
A
A
A
G
A
A
A
T
T
A
G
C
T
A
G
G
C
A
T
G
G
T
G
G
T
G
C
A
C
A
C
C
T
G
T
A
A
5600
C
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
G
A
A
T
C
A
C
T
T
G
A
A
C
A
C
G
G
G
A
G
G
5650
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
A
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
A
A
G
5700
A
C
T
G
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
GCAGC CTAGTGTCTG
5750
ACTTAGTGGG AGGTCAAAAA AATGTAAATC CTCTGCCATC TTGAGGGATT
5800
ACTGTCAAGT CCCATTTGGT AATTACCCTA GGAATGGCAC AAACAAATTA
5850
CTA
C
AAGC
A
G TGGGGACAGA GCTATTACTC CCCAGAGAGA ATTCTAAAAA
5900 |
var(5854):[G:0.18]
|
var(5859):[C:0.18]
GGCTACAGAA TCTTTCTT
G
G
C
T
G
G
G
C
A
C
G
G
T
G
A
C
T
C
A
C
A
C
C
T
A
T
A
A
T
C
C
T
5950 |
REPEAT
G
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
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
G
6000
T
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
G
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
A
G
T
G
A
T
6050
G
C
A
T
G
C
T
T
A
T
T
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
A
G
A
G
G
T
G
G
G
A
G
G
A
T
T
G
C
T
T
6100
G
A
A
C
C
T
G
G
A
G
A
T
T
C
A
A
G
T
G
A
G
C
T
G
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
6150
G
G
C
A
A
C
A
A
A
G
C
A
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
A
A
A
A
A
A
A
6200 |
var(6199):[G:0.39]
GAGAGATTGA GAGAACACTT CCAGCTCAGA TGATCTGTGA TCCCCTCCAA
6250
AGCAGGGAAT ACCCTCCATT CCAGCCTGGT CCCCAACCCT CATTCCCAAG
6300
GAAGGCCCCC GACTCATCCT GCAAGTATCT TTCATCTCTG CCCTTTGTTG
6350
CAG
G
G
G
C
T
G
G
G
G
A
G
A
A
C
A
C
C
A
A
A
A
C
A
A
A
C
C
T
G
G
A
G
A
G
C
A
T
C
C
T
C
T
C
T
T
A
C
6400 | Exon 4
G A G E N T K T N L E S I L S Y 199
C
C
C
A
A
G
G
A
C
T
T
C
A
C
C
T
G
T
G
T
C
C
A
C
C
A
G
G
C
C
C
T
G
A
A
G
G
G
C
T
T
C
A
C
G
A
C
C
A
A
6450
P K D F T C V H Q A L K G F T T K 216
A
G
G
T
G
T
C
A
C
C
T
C
A
G
T
C
T
C
T
C
A
G
A
T
C
T
T
C
C
A
C
A
G
C
C
C
A
G
GT GAGTGCCCAG
6500
G V T S V S Q I F H S P 228
GAATGGGCAG TGTCTGCAGA GGAGGGTCCT GAGAGGACTC TGAAGGGGGA
6550
CCCAGCGCTG GGGAAAGAAA GGACA
G
AGGG AATGTTGGAG CTACAGTATC
6600 |
var(6576):[A:0.18]
AGGGATGGAC TGCAGAGCAG GTGAAGACCT TGGCAGGAGC ATTAGGTCAC
6650
TCCAGGAACT AGACTGTTCT TCTAATGAGA CCTTAGACAA GTCTCTGGCA
6700
TTCATCAACT GCTTTAGAAT AAAAATAACC GGGCAGGTAC AGTAAAATAG
6750
TGATGATGCT ATCTACCTCA AAAGATTAAG AAGCAGAAAG CCA
G
G
C
T
G
G
G
6800 |
REPEAT
C
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
T
6850 |
var(6803):[C:0.19]
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
G
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
6900
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
T
G
G
G
C
A
T
G
G
T
G
G
C
G
G
G
C
A
C
C
T
6950
G
T
A
A
T
C
C
C
A
G
C
T
A
T
T
C
A
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
T
G
G
7000
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
G
A
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
7050
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
C
A
A
A
A
A
C
A
A
A
A
C
A
A
A
A
7100 |
NOT SCANNED
A
C
A
A
A
A
A
A
A
A
A
A
A
C
A
A
A
G
A
A
G
G
A
G
A
A
A
G
C
C
G
G
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
T
C
T
7150 |
REPEAT
C
A
T
C
T
G
T
A
A
G
T
T
C
A
A
G
G
A
G
T
T
G
A
A
G
G
T
A
T
G
C
T
A
G
G
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
7200
G
G
C
C
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
G
C
A
T
G
G
C
G
A
A
A
C
C
T
G
T
C
T
C
C
A
T
T
A
A
A
A
7250
A
A
A
A
A
A
A
A
G
T
T
G
G
G
G
G
T
A
C
G
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
7300 |
REPEAT
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
T
G
G
A
A
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
7350
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
A
A
A
A
C
C
C
T
G
T
C
T
C
T
A
T
T
A
A
A
A
A
C
A
C
A
A
A
7400
A
A
T
T
A
G
C
C
T
G
G
C
A
T
G
G
T
G
G
C
A
G
G
C
G
C
C
T
A
T
A
A
T
C
C
C
A
A
C
T
A
C
T
C
A
G
G
A
G
G
7450
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
A
G
A
G
A
G
T
G
A
A
G
G
T
T
G
C
A
G
T
G
A
G
C
7500
T
G
A
G
A
T
C
A
T
G
C
C
A
C
T
T
C
A
C
T
C
C
A
G
C
C
T
G
A
G
T
G
A
A
A
C
A
G
C
A
A
A
A
C
T
C
T
G
T
C
7550
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
A
A
G
A
A
A
G
A
A
A
A
A
A
G
G
C
C
A
G
G
C
G
C
G
G
T
G
A
C
T
C
A
C
7600 |
REPEAT
G
C
C
T
G
T
A
A
T
C
G
C
A
A
C
A
C
T
T
T
G
G
C
A
G
G
C
C
G
A
G
G
C
A
G
G
C
G
A
T
T
C
A
C
A
A
G
G
T
C
7650
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
T
C
T
G
G
C
T
A
A
C
T
A
A
C
A
T
A
G
T
G
A
A
A
C
T
C
C
G
T
C
T
C
T
A
7700
C
T
G
A
A
A
A
T
A
C
A
A
G
A
A
A
T
T
A
C
C
C
T
G
G
C
A
T
G
G
T
G
G
T
G
T
G
C
A
C
C
T
G
T
A
A
T
C
C
C
7750
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
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
7800
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
T
G
A
C
A
G
A
7850
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
G
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
7900 |
REPEAT
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
C
G
G
A
C
C
A
C
G
A
G
G
T
C
A
G
A
A
G
7950
A
T
C
A
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
A
G
A
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
G
C
C
A
A
A
A
A
A
A
8000
T
A
C
A
A
A
A
C
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
G
G
T
C
C
C
A
A
C
T
A
C
T
T
8050
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
A
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
8100
T
G
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
G
A
G
A
C
A
8150
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
G
G
G
G
C
G
G
G
C
G
G
G
C
C
A
G
G
C
G
C
G
G
T
G
8200 |
REPEAT
T
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
C
G
G
A
T
C
A
C
8250
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
C
C
A
G
G
A
A
A
C
C
C
T
G
T
C
8300
T
C
T
G
T
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
A
C
G
C
G
C
C
T
G
T
A
G
T
8350
C
C
C
A
G
C
A
G
G
A
G
A
A
T
A
A
C
T
T
C
A
A
C
C
T
G
G
G
A
G
A
C
A
G
A
G
G
T
T
G
C
A
G
T
C
A
G
C
T
G
8400
A
G
A
T
C
G
C
A
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
C
C
G
A
G
A
C
T
C
T
G
T
C
T
C
8450
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
G
A
A
T
A
C
C
C
A
T
A
T
G
C
A
T
T
C
A
T
T
A
A
T
A
T
A
T
A
G
8500
G
G
C
T
A
G
A
G
G
G
C
T
A
G
A
G
A
G
C
T
A
TAGACATAA AATAGACAAA AAATTTTTTT
8550
GCTCATTTTT GGGTCAAAGG AGTCTTGGGA CTCTAATTCT TTTAATTTTT
8600
GTGTTATGTG AATTTGTTAT CATTTACATG TATTATGTTA TTAAGTAGGT
8650
AATAATGATA ATACTAATAA TAAACTTACA AAACGATCCA ATGTAGTTGT
8700
TTTCAGACTT TGTTCCTCGG AGCCCTAGGA CTTTGCAAAG CTGTTTCTGG
8750
AGTCAT
G
GTG GGA
G
TGGGGT GTGGGGAGCC TGAGCAGTGG GGAAGGGTTC
8800 |
var(8757):[T:0.18]
|
var(8764):[A:0.19]
ACCACTTCCT GTGAGAGGGA AACGGACCAG CTGGGCTCTG AGCTCCCCAC
8850
CCAGCCTCAG CCAGGGTCCA TTTTATATTG TGGGCTTCAG ACATGCCTTT
8900
GTTTGAAAGC AGTTCTGCTG CTTTAAAATG TTTGATAACC ATTGAACTAA
8950
TCTACCCACC TCCCTTTTTA AAAAAAAAAG GAAAACTTTT TTTTAAGCTG
9000
TTTTTTTTGT TTTTTGTTTT TTTT
T
A
A
A
C
T
G
T
A
A
A
A
A
C
A
A
T
A
C
T
T
A
G
G
T
C
9050 |
NOT SCANNED
T
G
G
C
T
C
A
G
T
G
T
G
C
C
T
G
T
A
A
T
T
C
C
A
A
C
A
C
T
G
A
G
A
G
G
C
T
G
A
G
G
T
A
G
G
A
G
G
A
T
9100 |
REPEAT
T
G
C
T
T
G
A
G
G
C
T
A
G
A
A
T
T
T
C
G
A
G
A
C
T
A
G
C
C
T
C
T
G
G
G
C
A
A
C
A
T
A
G
A
C
A
G
A
C
C
9150
T
C
A
T
C
T
C
T
A
C
A
A
A
A
A
A
T
T
T
T
A
A
A
A
A
T
T
A
T
C
C
G
G
G
T
G
T
G
G
T
A
C
G
T
G
T
C
T
G
T
9200
A
G
T
T
C
C
A
G
C
T
A
T
G
A
A
G
G
A
C
T
G
A
G
A
C
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
A
A
G
G
A
A
T
9250
T
C
G
A
A
G
T
T
A
G
A
G
T
G
A
G
C
T
A
T
G
T
T
T
A
T
G
C
C
T
C
T
G
T
A
C
T
C
T
A
G
G
T
T
G
G
G
T
A
A
9300
C
A
G
A
G
T
A
G
G
A
C
C
C
T
G
T
C
T
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
TTTAATT TAAATTTTAA
9350
AAACTCACCT ATCACCCCAT C
A
TCTGAAAA ACACCCTCTT TCAGATGTGG
9400 |
var(9372):[G:0.16]
GAAAAACATG GCTCAGAGGT GTTCAAGAAA TGTTGCATTT ATTTATTACT
9450
TACAAAGCTG TAAGTCAGCT TTATCCGCTG TCTTGCTAGG TTGGTGAAAA
9500
ATACGTAACA GCATTCAATA TTAGGGCTTC TATCCCCATC TAGCTGCACA
9550
CTGGAGCTGT GCCAAGCAAG GTTCTTGGTC TTATGTTGTA CTTAGGCATC
9600
AGCAAAGCCT GGGAAAATA
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
A
T
C
T
C
G
C
9650 |
REPEAT
|
NOT SCANNED
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
A
T
G
C
A
G
T
G
G
C
A
C
C
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
9700
T
C
C
G
T
C
T
C
C
C
A
G
A
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
G
A
A
T
A
G
C
T
9750
G
G
G
A
T
T
A
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
C
A
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
9800
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
C
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
G
9850
G
G
G
A
A
A
A
T
A
T
C
T
T
T
A
A
T
C
T
A
C
T
T
A
G
T
C
C
T
A
G
A
A
A
A
A
T
T
A
T
C
T
T
T
C
A
A
G
T
G
9900
C
T
T
T
T
T
T
TTT TTTTTTTTCA GTGGACTGAA GGCTTTTGCA GAGCAAAAGC
9950
CAGGAAGTTT TGTCACAAAC TTCCACCAAG GCCAGGAAGC AGAGTCTATT
10000
CCGTGCCAAA ATTAAGGGAA GAAAAGAGGG AAAATCTAGG CAAATGGAAT
10050
TTAATATCTC AAAAAGATTA TCTTGCCGAG CCATAGTCAC ATAGCAAGCT
10100
GAGGCAGCGG AGGCTTGGGG CTACTTCTCT TGTTCTTGGT TCTGGG
T
T
T
A
10150 |
REPEAT
C
C
T
T
C
T
T
T
G
G
G
C
C
T
T
A
T
T
T
G
C
C
A
C
A
T
C
T
G
T
A
A
G
A
G
G
A
G
T
G
G
G
C
T
G
G
A
C
CG
10200
CGCTCCACCA TGCCGTATTC ACTAAGTGAG CAGATAGAAC CATAGAAAGC
10250
ATGCTCACTC TCAAATCGTG CTCATGGAAA GAACGACGTG TTCAGGACTC
10300
ATGCCTCCCT TTCTCAACAT ACC
C
CCAG
A
C
C
T
G
G
C
C
A
T
A
A
G
G
G
A
C
A
C
C
T
T
10350 |
var(10324):[G:0.01]
| Exon 5
D L A I R D T F 236
T
G
T
G
A
A
T
G
C
C
T
C
T
C
G
G
A
C
C
C
T
G
T
A
C
A
G
C
A
G
C
A
G
C
C
C
C
A
G
A
G
T
C
C
T
A
A
G
C
A
10400
V N A S R T L Y S S S P R V L S 252
A
C
A
A
C
A
G
T
G
A
C
G
C
C
A
A
C
T
T
G
G
A
G
C
T
C
A
T
C
A
A
C
A
C
C
T
G
G
G
T
G
G
C
C
A
A
G
A
A
C
10450
N N S D A N L E L I N T W V A K N 269
A
C
C
A
A
C
A
A
C
A
A
G
A
T
C
A
G
C
C
G
G
C
T
G
C
T
A
G
A
C
A
G
T
C
T
G
C
C
C
T
C
C
G
A
T
A
C
C
C
G
10500 |
var(10489):[T:0.01]
T N N K I S R L L D S L P S D T R 286
C
C
T
T
G
T
C
C
T
C
C
T
C
A
A
T
G
C
T
A
T
C
T
A
C
C
T
G
A
G
T
G
GTAAGGGT GCCCTTAGCC
10550
L V L L N A I Y L S 296
AGTTAGTCTT CCCATTCTGG GTCCTTCTTC CCCTCCTGGC TTCAAAGCCC
10600
ACTTAACCCC AAGTTCTACA ATCGGATCTC AATGTCCCTG CACTACTCTT
10650
TGCTAACAAG GCTTTTAGCT CCTCTTCATC CTTTTCCTAC CTGCATTAGA
10700
GCAACCCTCC CACCTCTTCC CTCTAG
C
C
A
A
G
T
G
G
A
A
G
A
C
A
A
C
A
T
T
T
G
A
T
C
10750 | Exon 6
A K W K T T F D 304
C
C
A
A
G
A
A
A
A
C
C
A
G
A
A
T
G
G
A
A
C
C
C
T
T
T
C
A
C
T
T
C
A
A
A
A
A
C
T
C
A
G
T
T
A
T
A
A
A
A
10800
P K K T R M E P F H F K N S V I K 321
G
T
G
C
C
C
A
T
G
A
T
G
A
A
T
A
G
C
A
A
G
A
A
G
T
A
C
C
C
T
G
T
G
G
C
C
C
A
T
T
T
C
A
T
T
G
A
C
C
A
10850
V P M M N S K K Y P V A H F I D Q 338
A
A
C
T
T
T
G
A
A
A
G
C
C
A
A
G
GTAA GTTCTTAACC TTTCCTTCTC CTGTTTGAAA
10900
T L K A K 343
CCTACTTGAG TCTCCTGACT TTTTTTCTGC TGTAGTCCCA TCATTTTGGG
10950
GTACATGCTT ACAAATTCAT CACTTCTACT CCTTCCATCT GTATTTCCAC
11000
CCTATCTTTT CTCCTTCTCC TTTCTCTAGC CTTGGCCAAG GCAGACATTG
11050
TATATTTTAG GCTGGAAACA GGATTCTCAA GTTTCTTCAT GCATCTCTAC
11100
TATATTGAAT GGCAAAATGT GAGTCGTGTT CCTATTCTAC ACATCTGTTT
11150
CTTTTTCCAG TCAACTCATC AGAAGAC
T
CT GGTGGCTTAG CAAGTCCTGT
11200 |
var(11178):[C:0.17]
GTGTATGTGG GTACCTGTGT ACAGCATACA TATACATGTG TAGACGTGTA
11250
TAAGTATATC CTTGTATATG CATATATGTG GTAAGTGCAT GTGTGCACAT
11300
GAGTTAAATG GCTTAAGTGC ATTAGCAGAA ATTGAACAAT TTAGTTTGAT
11350
GAGTAGGGAG GGAGAGAAGA CAGAATATGG AGCCCAGAGG ATCCCAACTG
11400
GCAAGCTATC TCATCCCCAG TTACCAGATA TTTCCACCTT TTTAGGATGG
11450
CAAAACACAG ACCTATGAGA CAGAAAACAG TAAGAGACAA TGTCTCAATA
11500
CCTGGCTGAG AAACAAAGGC T
C
T
G
T
T
C
T
T
G
G
A
A
C
A
T
G
C
T
A
G
G
C
T
T
G
G
T
T
C
11550 |
REPEAT
C
A
C
A
T
T
G
G
G
A
G
C
T
T
T
C
C
T
T
A
G
C
T
T
T
T
G
T
T
T
C
T
G
C
C
T
G
T
A
T
C
C
C
T
C
T
T
C
A
C
11600
T
C
A
G
A
T
C
C
T
C
A
C
A
T
A
G
C
T
T
G
T
T
C
C
T
T
C
T
T
G
T
C
A
T
T
T
G
G
G
T
G
T
C
A
G
C
T
C
A
G
11650
A
G
G
T
C
A
C
C
T
T
G
G
T
G
G
A
G
A
A
G
T
C
T
T
C
T
C
C
C
C
A
T
T
A
A
A
G
C
A
G
C
C
T
C
C
T
C
C
T
C
11700
A
C
C
C
T
G
T
A
A
T
A
T
C
A
C
T
C
C
T
G
T
T
T
T
A
T
T
A
T
A
T
T
C
A
T
T
A
C
A
C
T
C
A
T
C
A
C
C
A
T
11750 |
var(11717):[G:0.17]
C
T
G
A
A
A
T
T
A
T
G
T
C
A
T
T
T
A
T
T
T
G
C
T
T
A
T
T
T
G
C
C
T
A
G
G
A
C
A
T
T
G
T
C
T
G
T
C
T
C
11800 |
var(11792):[T:0.17]
C
C
T
A
A
G
A
T
A
C
T
G
T
C
T
C
T
C
T
A
C
T
T
G
A
A
T
A
C
A
G
G
A
A
C
C
T
G
T
C
T
T
G
T
T
T
C
C
T
T
11850
C
T
G
T
A
T
C
T
G
T
A
G
T
G
C
C
T
A
G
A
A
C
A
A
T
G
C
C
T
C
C
T
A
T
C
A
T
A
G
G
T
G
C
T
C
A
T
T
C
A
11900 |
NOT SCANNED
G
T
G
T
T
T
G
C
T
G
A
A
T
A
A
A
T
G
A
A
T
G
A
A
T
G
A
A
A
T
A
G
A
G
G
G
T
G
C
C
A
A
A
G
A
G
A
G
C
T
11950
A
C
T
C
A
G
T
A
A
A
A
G
T
G
G
C
T
G
G
A
A
G
A
C
T
T
C
A
T
A
G
A
G
G
A
G
G
G
T
T
T
T
T
T
T
C
G
A
G
A
12000 |
REPEAT
C
A
G
G
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
T
C
A
A
G
C
T
G
C
A
G
T
G
C
A
T
T
G
A
C
A
T
G
A
T
C
T
C
A
G
C
12050
T
C
A
C
T
G
C
A
A
T
C
T
C
T
G
C
C
T
C
C
C
G
A
G
T
T
C
A
A
G
C
A
G
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
12100
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
A
G
C
C
C
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
12150
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
A
T
G
T
T
A
G
C
C
A
A
G
C
T
G
G
T
C
T
C
G
A
12200
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
A
C
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
G
G
C
T
G
G
G
A
T
12250
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
A
G
C
G
C
C
C
A
G
C
T
G
A
G
G
A
G
G
T
T
A
T
T
T
T
T
G
A
C
C
A
T
T
C
12300
T
T
T
G
C
T
C
A
G
T
T
A
T
T
T
A
T
C
C
A
C
T
C
A
T
G
G
A
C
T
T
A
T
C
C
A
C
C
C
A
T
C
T
A
T
C
C
A
T
C
12350
C
C
T
A
T
C
T
A
A
T
G
T
A
T
T
T
G
A
C
C
A
T
T
C
A
T
G
A
C
T
C
A
T
T
T
A
G
C
A
G
A
A
C
C
A
G
G
A
C
A
12400
G
C
C
T
G
T
A
T
A
A
G
G
C
A
C
A
G
A
A
G
A
G
T
G
A
A
T
A
T
A
T
G
T
G
A
C
A
G
G
T
C
C
A
G
A
G
C
A
T
T
12450
G
T
T
C
A
A
A
T
T
C
A
A
G
A
T
A
C
G
T
T
G
G
G
G
G
A
G
G
T
A
T
A
A
A
T
A
T
G
A
G
A
T
T
T
T
T
T
T
C
A
12500
A
A
T
C
A
A
T
T
G
G
A
A
T
G
G
C
T
A
T
T
T
A
A
T
C
A
A
A
G
C
C
A
T
A
G
A
T
G
T
T
A
G
G
T
G
G
A
A
A
G
12550
T
A
G
G
A
A
T
T
A
A
G
A
A
C
T
T
A
A
C
A
A
G
T
T
A
G
G
T
T
T
A
A
A
T
G
T
A
A
C
T
A
T
T
C
G
A
A
T
T
A
12600
T
A
A
G
A
A
C
A
A
G
T
A
T
T
T
C
C
T
C
T
C
T
A
A
A
A
A
T
G
T
T
T
T
T
A
A
A
G
T
T
T
C
A
C
A
C
A
A
A
A
12650
C
T
C
T
A
A
A
C
C
A
A
A
A
A
T
C
A
T
T
G
T
A
A
A
A
A
T
C
C
C
T
T
G
G
G
A
G
T
A
G
A
C
T
G
T
T
G
A
A
A
12700
C
C
A
T
T
G
A
G
G
T
G
A
G
G
T
G
A
T
A
G
G
T
T
A
A
G
G
T
G
A
G
C
A
T
T
C
T
G
G
A
C
A
T
A
T
A
A
T
A
T
12750
C
A
A
T
A
A
T
A
A
A
T
A
T
T
C
A
A
A
T
A
C
A
A
A
G
C
A
G
G
T
A
T
A
A
T
A
T
G
A
A
G
A
G
T
A
A
T
T
T
C
12800
T
A
T
C
T
C
C
C
C
A
A
G
C
C
A
A
T
A
T
G
A
G
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
T
C
T
T
T
T
G
12850 |
REPEAT
A
G
A
T
A
A
A
G
T
C
T
C
A
T
T
C
T
G
T
T
G
C
C
C
A
G
G
C
C
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
C
C
12900
A
G
C
T
C
T
C
T
G
T
A
A
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
T
A
G
12950
C
C
T
C
C
C
T
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
C
T
C
C
C
A
G
C
T
A
A
T
T
13000
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
G
G
C
C
A
G
G
C
T
G
G
T
C
A
13050
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
C
T
C
G
T
C
C
G
T
C
T
T
C
G
G
C
C
T
C
C
T
A
A
A
G
T
G
C
T
G
13100
G
C
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
A
G
C
C
T
G
A
G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
13150
T
A
A
G
C
C
A
A
A
G
G
A
G
G
A
G
G
A
G
T
A
G
T
T
T
T
G
T
G
C
A
C
A
A
A
A
G
C
C
A
C
T
A
T
T
T
A
G
A
G
13200
T
T
C
C
T
T
A
G
G
T
T
T
T
A
A
A
C
A
G
A
T
A
A
T
T
A
A
T
T
T
A
A
T
G
T
A
C
T
A
A
C
A
A
A
T
G
C
A
A
A
13250
A
T
T
A
A
A
A
T
T
T
T
A
C
T
T
A
T
G
C
C
T
T
T
T
A
A
T
T
T
T
A
A
G
C
T
G
A
A
C
T
T
G
C
T
A
C
A
T
T
A
13300
A
G
A
G
T
A
G
G
G
T
G
A
T
T
T
G
G
C
T
G
G
G
C
G
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
C
13350 |
REPEAT
A
C
T
T
T
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
T
T
G
A
A
G
C
T
A
A
G
A
G
T
T
T
G
A
G
A
C
13400
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
G
A
A
T
T
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
13450
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
A
C
A
T
G
T
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
T
G
C
T
A
A
13500
G
G
C
A
C
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
A
C
A
G
T
G
A
G
C
C
A
A
A
A
T
13550
C
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
A
C
C
T
G
G
G
C
A
A
C
A
C
A
G
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
13600
C
A
C
A
A
A
A
A
A
A
G
A
A
T
A
G
G
C
T
G
G
G
T
A
C
A
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
13650 |
REPEAT
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
T
G
A
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
13700
C
A
G
C
T
T
G
G
C
C
A
A
C
A
T
T
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
C
A
T
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
13750
A
A
G
C
C
G
G
G
T
G
T
G
A
T
G
G
T
G
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
A
T
A
C
T
T
G
T
G
A
G
G
C
T
G
13800
G
G
A
C
A
G
A
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
A
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
13850
A
T
C
A
T
G
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
A
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
C
T
T
G
T
C
T
C
A
G
13900
A
A
A
A
A
A
A
A
A
A
A
T
A
G
G
G
T
G
A
T
T
T
T
T
A
T
A
T
A
A
A
A
A
C
A
C
T
C
T
C
A
T
T
T
G
T
T
C
T
T
13950
G
A
A
T
T
A
A
T
T
G
C
C
A
T
A
T
T
G
A
A
C
A
G
A
T
T
A
A
A
C
T
C
C
T
T
T
A
A
A
C
C
A
T
T
T
T
T
T
C
T
14000
A
T
C
T
A
C
A
A
A
C
A
T
A
A
T
T
A
G
T
A
T
T
C
C
C
A
T
A
A
G
C
A
T
T
T
T
A
A
G
C
T
C
C
C
T
T
T
A
A
A
14050
A
A
T
T
T
A
A
T
A
T
G
C
T
C
G
A
T
T
T
T
C
T
T
T
T
T
T
C
T
T
T
T
A
T
T
T
A
T
T
T
A
T
G
T
A
G
T
T
T
T
14100 |
REPEAT
C
C
C
A
G
A
C
A
G
G
G
T
C
T
T
A
C
T
C
T
A
T
C
A
C
C
C
A
G
T
C
T
G
G
A
G
T
A
C
A
G
T
G
A
C
A
C
A
A
T
14150
C
C
T
C
A
C
T
T
A
C
T
G
T
A
A
C
C
T
C
A
A
G
C
T
C
C
T
T
G
G
G
A
T
G
A
A
G
C
A
G
T
C
C
T
C
C
C
A
C
C
14200
C
T
A
G
C
C
T
C
T
T
A
A
G
T
A
G
C
T
G
A
G
A
T
T
C
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
T
C
A
C
C
C
A
G
C
T
14250
G
A
T
T
T
T
C
T
T
T
T
T
A
A
A
C
A
C
A
T
C
T
A
A
T
A
C
C
T
G
A
C
A
G
G
T
C
G
T
A
A
T
T
A
C
G
A
C
T
G
14300
T
G
C
T
T
G
G
C
C
A
T
A
T
C
A
T
C
C
T
A
A
C
A
C
C
T
A
A
A
G
C
T
C
A
C
T
T
G
T
A
A
A
C
T
G
A
A
A
A
T
14350
T
A
A
A
T
T
T
G
A
A
G
G
G
T
G
A
A
T
T
A
A
C
T
T
C
T
A
G
C
C
A
A
C
A
T
T
C
C
A
A
T
A
T
C
A
T
T
C
T
C
14400
A
C
A
T
T
T
A
A
T
G
A
A
A
T
T
A
T
C
C
T
A
C
A
A
C
T
T
T
G
C
T
T
A
A
A
A
G
C
A
T
A
A
A
A
C
T
A
G
C
A
14450
T
G
T
C
A
G
A
G
T
C
T
C
T
T
A
A
A
A
A
T
T
A
C
A
A
T
C
A
C
T
A
T
T
T
T
A
A
A
T
A
A
C
A
A
A
C
A
T
A
C
14500
A
G
G
T
T
A
C
C
C
T
G
A
A
C
T
T
A
A
C
A
C
C
T
G
G
T
T
T
T
A
A
C
A
T
G
A
T
G
A
A
G
T
T
G
G
T
T
T
C
T
14550
T
T
T
G
T
C
A
T
T
C
T
T
A
T
A
C
T
A
A
A
T
T
C
T
A
A
A
T
C
T
T
C
C
T
G
G
C
A
C
T
T
A
A
G
G
A
T
A
T
T
14600
T
A
C
C
C
A
A
G
G
A
A
G
G
G
G
G
T
G
A
G
A
T
T
T
A
C
C
GGC TCAGGTACAC CGAGGTTACT
14650
GGCTTGAAAA TTCAAGACCA CAGCATGGTA AATTTTTCTT CAGAGATTCA
14700
AGGTTCATAC ATAGGACTTG AAGGGCACAT GCTACTCAAA TGAGTATATC
14750
CAACTTGAGT GCTACATCAA CAGGGACCCC ATGTCCACTC TTTTCAGTCG
14800
AAATTGGCTT ACT
A
TCTACT TCTTCTGGGC TATTCAG
G
TT CCGACAATTG
14850 |
var(14814):[G:0.18]
|
var(14838):[T:0.32]
ATTGCTTTCA GTTAATTTCT TTATTGCCCA GTTGAATTCT GCATTCTTCT
14900
AGATTCTTTT TGTTCCTTCA GCCTCAATCA TAATACCATT TAATGACAGT
14950
CTCATATCCT ATTAGACT
A
G
G
G
T
T
T
C
T
C
A
G
C
C
T
T
G
G
C
A
C
T
A
T
T
G
A
C
A
T
A
T
15000 |
REPEAT
T
G
G
G
T
C
A
G
A
T
A
A
T
T
C
T
T
T
G
T
C
C
T
G
T
G
C
A
T
T
G
T
A
G
A
A
T
T
T
A
G
C
A
T
C
T
T
C
C
T
15050
T
A
G
C
T
T
C
T
A
C
T
C
A
C
T
A
G
A
A
G
C
C
A
G
T
A
G
C
A
C
T
G
T
G
T
G
C
A
C
A
T
C
C
T
C
C
T
T
G
C
15100
C
C
C
C
T
G
C
C
A
G
C
T
A
T
G
A
C
A
A
C
C
A
A
A
A
T
G
T
C
T
C
C
A
G
A
C
A
T
T
A
C
C
A
A
A
T
G
T
C
C
15150 |
NOT SCANNED
A
C
T
G
A
G
A
G
G
C
A
A
A
T
T
C
A
C
T
C
C
G
A
G
T
T
G
A
C
A
A
C
C
C
C
T
G
T
A
T
T
A
A
A
C
C
C
A
G
G
15200
G
G
C
C
C
T
G
C
A
C
T
T
C
T
T
A
C
A
T
A
C
T
T
T
T
G
T
C
T
G
G
T
C
A
C
C
A
G
T
T
G
A
A
A
G
T
C
C
T
T
15250 |
REPEAT
C
T
T
C
T
T
T
T
T
T
T
T
T
T
C
T
C
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
A
G
G
C
15300
T
G
G
A
G
T
G
C
A
G
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
A
C
C
T
C
C
C
G
G
G
T
15350
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
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
A
C
15400
G
T
G
C
C
A
C
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
G
T
G
G
G
G
T
T
T
C
A
T
15450
C
A
T
G
G
T
G
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
T
C
T
T
G
A
C
C
T
C
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
15500 |
var(15486):[A:0.45]
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
G
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
ATGACCA
15550
AAAGTCCTTC TAATAGCAAA GTGGAAAGGT AGGCTGTGAA CAATCTTGAA
15600
TGCCATACTA AGATTTGTAC TTATTCTCAT AGGCAGTGAA GAGCCATCAA
15650
TAGTTTTTAC AGAGGC
T
G
A
C
C
T
G
A
T
A
A
C
T
C
T
G
G
C
G
G
T
T
C
A
A
T
G
T
G
C
A
T
G
C
15700 |
NOT SCANNED
T
A
T
A
T
A
C
T
A
T
A
T
G
C
A
C
A
A
C
A
C
A
T
T
A
G
G
A
A
G
G
A
A
G
G
G
A
A
C
A
G
C
G
C
T
C
A
G
A
G
15750 |
REPEAT
A
A
A
T
C
A
A
A
T
C
A
C
T
T
G
C
C
C
A
T
A
T
T
A
C
A
T
A
G
C
T
C
G
T
C
A
G
T
G
G
T
G
G
A
G
T
C
A
G
G
15800
G
T
A
T
A
A
T
C
A
G
A
A
A
C
T
C
A
T
G
C
T
C
C
T
T
C
C
T
C
T
A
C
C
T
C
T
C
C
C
C
A
G
C
A
C
A
G
A
G
T
15850
T
G
G
A
T
C
A
G
C
A
C
T
G
T
T
C
A
C
C
C
A
G
C
T
G
G
T
A
T
C
C
C
C
A
T
T
T
C
A
T
G
GTAAAGCCT
15900
GGAAGCTTAG GTCTGACTGA TGCTTGTTGA AATACAGACT GTGGGAGCAG
15950
ACTGCAGGAC AGCATTGTGA CAGAGGGTGG GGCCAGGAGA GAGATGCGGT
16000
AGGAAGACTG TTAAG
G
TGCA TCTCTTATTT TCTAG
G
T
G
G
G
G
C
A
G
C
T
G
C
A
G
16050 |
var(16016):[A:0.37]
| Exon 7
V G Q L Q 348
C
T
C
T
C
C
C
A
C
A
A
T
C
T
G
A
G
T
T
T
G
G
T
G
A
T
C
C
T
G
G
T
A
C
C
C
C
A
G
A
A
C
C
T
G
A
A
A
C
A
16100
L S H N L S L V I L V P Q N L K H 365
T
C
G
T
C
T
T
G
A
A
G
A
C
A
T
G
G
A
A
C
A
G
G
C
T
C
T
C
A
G
C
C
C
T
T
C
T
G
T
T
T
T
C
A
A
G
G
C
C
A
16150
R L E D M E Q A L S P S V F K A 381
T
C
A
T
G
G
A
G
A
A
A
C
T
G
G
A
G
A
T
G
T
C
C
A
A
G
T
T
C
C
A
G
C
C
C
A
C
T
C
T
C
C
T
A
A
C
A
C
T
A
16200
I M E K L E M S K F Q P T L L T L 398
C
C
C
C
G
C
A
T
C
A
A
A
G
T
G
A
C
G
A
C
C
A
G
C
C
A
G
G
A
T
A
T
G
C
T
C
T
C
A
A
T
C
A
T
G
G
A
G
A
A
16250 |
var(16224):[T:0.01]
P R I K V T T S Q D M L S I M E K 415
A
T
T
G
G
GTGAG CTCTGGCAGC TTAGGGTTAC TCCCAGGCCA TCAGAGGAGA
16300
L 416
AAGGGGGGAT CCCTAAGATG TAGTTAGCAT TCTCTAGAGT ATTT
T
T
T
A
C
A
16350 |
REPEAT
T
C
C
A
T
A
A
T
C
T
C
A
G
T
T
T
G
T
C
C
T
G
C
A
A
C
C
C
T
G
C
A
A
G
T
T
A
G
A
G
G
G
G
T
A
G
G
T
G
C
16400
T
A
T
T
A
T
C
C
C
A
T
T
G
G
A
T
C
A
T
T
G
T
G
G
A
A
A
T
G
G
A
G
G
C
T
C
A
G
A
A
G
C
T
T
T
A
T
G
T
G
16450
A
C
T
T
A
C
C
C
A
G
A
G
A
T
T
C
C
A
T
G
A
T
T
T
A
C
C
C
T
T
G
A
G
C
T
A
G
T
C
A
G
A
G
G
C
A
A
A
C
C
16500
A
G
A
A
C
A
C
C
G
A
C
C
C
A
G
G
T
C
T
C
C
A
G
C
T
C
T
C
C
T
G
A
G
T
T
T
T
T
T
C
T
ATGGTTCCT
16550
TGTGACATAG
G
C
A
G
T
G
G
A
A
C
A
G
T
G
G
G
A
C
A
G
G
T
A
A
C
C
G
A
G
G
T
G
A
A
T
T
A
T
G
G
16600 |
REPEAT
A
T
G
C
T
C
C
T
T
C
C
C
C
A
G
A
C
A
C
A
T
T
T
C
A
A
A
A
CA GTCAGCCACC CCGTGGAATA
16650
TGCAAGAAGC TATCTGGAAG TGCAGATCTG GAGGCTTCTG AGTTTACGAG
16700
AGGCAACAGA GACTCCA
T
T
T
T
C
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
A
G
T
16750 |
REPEAT
|
NOT SCANNED
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
A
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
T
G
C
T
16800
C
A
C
T
G
C
A
A
G
A
T
C
C
G
C
C
T
C
C
C
A
G
A
T
T
C
A
C
G
C
C
A
T
G
C
C
A
T
T
C
T
C
T
C
G
C
C
T
C
A
16850
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
16900
T
T
T
G
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
T
G
T
G
T
T
A
A
C
C
A
G
G
A
16950
T
G
G
T
C
A
C
A
A
T
C
T
C
C
G
G
A
C
C
T
T
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
17000
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
T
C
A
C
C
G
C
G
C
C
C
A
G
C
C
CAGAG ACTCCATTTT
17050
CTAACC
T
T
T
G
T
T
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
T
G
A
G
A
C
G
G
A
G
C
C
T
C
A
C
T
C
T
G
17100 |
REPEAT
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
C
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
T
G
G
G
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
17150 |
var(17116):[T:0.14]
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
17200
T
T
A
C
A
G
G
C
A
C
C
T
A
C
C
A
C
C
A
C
G
C
C
C
A
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
17250
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
G
A
A
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
17300
A
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
G
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
17350 |
var(17317):[T:0.01]
C
C
A
C
T
G
T
G
C
C
C
A
G
C
C
TCATT TTCTAACCTT TGATCTCATG TCCAGCCCTG
17400
TCACTTCATT TCTTGTTAGA GAATTTGACC GCCTAACACA TGATTCCATT
17450
TCCTTGTATA TGTCATCTGT ATAGGAAGAA AACC
T
C
T
T
T
T
T
T
A
T
T
T
T
C
A
T
17500 |
REPEAT
T
C
A
A
C
A
C
T
T
C
T
G
G
C
C
A
C
C
A
A
A
C
A
G
G
T
G
T
G
G
G
A
G
T
G
T
T
T
T
C
T
A
A
G
C
A
A
T
T
C
17550
T
C
C
A
G
T
T
A
T
C
T
G
G
G
G
A
C
A
C
C
A
A
C
T
G
G
G
T
G
T
C
C
T
A
C
A
A
T
T
G
A
A
T
C
C
A
A
T
T
C
17600
T
A
A
C
A
C
T
C
T
A
C
C
T
G
G
A
A
A
T
A
A
C
A
T
C
A
G
A
T
C
C
C
G
T
G
C
A
G
T
T
T
A
A
G
T
G
C
T
C
C
17650 |
var(17633):[A:0.01]
G
C
C
C
C
A
G
C
A
A
A
T
T
T
C
C
C
C
C
C
G
T
T
T
C
C
A
A
T
G
T
C
A
G
T
T
A
C
A
A
G
A
C
T
G
G
G
T
T
G
17700
T
C
A
C
C
T
G
T
G
C
A
T
C
A
G
A
C
C
A
A
C
C
A
G
C
T
A
T
A
A
T
T
T
G
G
A
G
A
T
T
C
C
C
A
C
A
A
C
T
C
17750
C
C
T
G
C
T
A
G
G
G
T
T
T
C
A
T
C
A
T
T
T
G
C
T
A
G
A
A
T
A
G
C
T
G
A
C
A
A
A
A
C
T
C
A
G
G
A
G
A
C
17800 |
var(17797):[G:0.02]
A
C
T
T
A
C
A
T
T
T
A
C
T
G
G
T
T
T
A
T
T
A
T
G
T
A
A
A
G
G
A
T
T
A
A
G
T
A
A
A
G
G
A
T
A
C
A
G
A
T
17850
G
A
A
C
A
G
C
C
A
G
T
T
G
A
A
G
A
G
A
T
A
C
A
T
A
G
G
G
C
A
A
A
A
T
C
T
G
G
A
A
G
G
G
T
C
C
T
G
G
G
17900
C
C
C
A
G
C
A
G
C
A
T
C
T
A
T
C
C
T
G
T
G
G
A
G
T
T
C
T
G
T
T
T
G
C
T
A
C
C
T
T
C
C
T
G
A
C
A
C
A
T
17950
G
T
A
T
G
T
G
T
T
C
A
C
C
A
A
C
C
A
G
A
A
A
C
T
C
T
C
A
G
A
A
C
C
C
T
G
T
A
C
T
T
T
A
G
G
A
G
A
A
G
18000
T
C
A
T
C
A
T
G
T
A
G
G
C
A
T
G
A
T
T
G
A
T
T
A
T
T
A
C
C
C
A
A
T
C
T
C
C
A
G
C
T
C
C
T
C
T
C
T
T
C
18050
T
C
C
C
C
A
G
A
G
G
A
T
G
G
A
G
A
G
A
G
G
G
G
C
T
G
A
A
A
G
T
T
C
C
A
A
G
C
T
T
C
T
A
A
T
C
A
C
A
C
18100
T
T
G
G
T
C
T
T
T
C
T
G
G
T
G
A
C
C
A
G
C
C
C
C
A
A
T
C
C
A
G
G
A
G
C
C
A
G
C
A
G
G
A
G
T
A
G
C
C
T
18150
C
A
T
T
A
G
C
A
C
A
A
A
A
G
G
C
A
T
T
C
C
T
A
T
G
A
C
C
C
A
G
G
A
A
A
T
T
C
C
A
A
G
G
G
A
T
C
T
A
G
18200
T
A
G
C
T
C
T
G
T
G
T
C
A
G
G
A
A
C
T
G
G
G
A
T
C
G
G
A
G
A
C
C
A
A
A
T
A
T
T
A
G
A
TGGTCTAA
18250
TATTTGGAGC TAAAGATGCT CCTATAGCAT ATTTTCCCAT TATTTCACAG
18300
CATCATGGCA TTGCATATAA CCTCATTTTT TCATATATGA CCTATCTCTG
18350
ATCTATTACC TCAC
T
TCCAA GGTCCTGGGA GATAAGGAGG CAATGACATC
18400 |
var(18365):[C:0.29]
ATTTTTCAGG GTTGTTTTAG GGATGAGGGG CAAGGCCTCT CACCTTGAGA
18450
GAGAGTGGCA GTGTTGGGCC CACTAATAGA GGATCCCACG AACTGCCAGA
18500
GGGTACAGTA TGTAATCTGG CAAACAAGGG AAGAGGAAGA GAGCACTGGG
18550
ACTCAGGATG AACCCAGAGA ATTCAGGACA AAGGTCTCCA TCAGCTGAGG
18600
GTATCATGCT GGCTTCTGAC TCTGTTTTTC TCTGGTTTTG CCCTAG
A
A
T
T
18650 | Exon 8
E F 418
C
T
T
C
G
A
T
T
T
T
T
C
T
T
A
T
G
A
C
C
T
T
A
A
C
C
T
G
T
G
T
G
G
G
C
T
G
A
C
A
G
A
G
G
A
C
C
C
A
G
18700
F D F S Y D L N L C G L T E D P 434
A
T
C
T
T
C
A
G
G
T
T
T
C
T
G
C
G
A
T
G
C
A
G
C
A
C
C
A
G
A
C
A
G
T
G
C
T
G
G
A
A
C
T
G
A
C
A
G
A
G
18750
D L Q V S A M Q H Q T V L E L T E 451
A
C
T
G
G
G
G
T
G
G
A
G
G
C
G
G
C
T
G
C
A
G
C
C
T
C
C
G
C
C
A
T
C
T
C
T
G
T
G
G
C
C
C
G
C
A
C
C
C
T
18800
T G V E A A A A S A I S V A R T L 468
G
C
T
G
G
T
C
T
T
T
G
A
A
G
T
G
C
A
G
C
A
G
C
C
C
T
T
C
C
T
C
T
T
C
G
T
G
C
T
C
T
G
G
G
A
C
C
A
G
C
18850 |
var(18835):[A:0.18]
L V F E V Q Q P F L F V L W D Q 484
A
G
C
A
C
A
A
G
T
T
C
C
C
T
G
T
C
T
T
C
A
T
G
G
G
G
C
G
A
G
T
A
T
A
T
G
A
C
C
C
C
A
G
G
G
C
C
T
G
A
18900
Q H K F P V F M G R V Y D P R A 500
G
A
C
C
T
G
C
A
G
G
A
T
C
A
G
G
T
T
A
G
G
G
C
G
A
G
C
G
C
T
A
C
C
T
C
T
C
C
A
G
C
C
T
C
A
G
C
T
C
T
18950 |
UTR
C
A
G
T
T
G
C
A
G
C
C
C
T
G
C
T
G
C
T
G
C
C
T
G
C
C
T
G
G
A
C
T
T
G
G
C
C
C
C
T
G
C
C
A
C
C
T
C
C
T
19000
G
C
C
T
C
A
G
G
T
G
T
C
C
G
C
T
A
T
C
C
A
C
C
A
A
A
A
G
G
G
C
T
C
C
C
T
G
A
G
G
G
T
C
T
G
G
G
C
A
A
19050
G
G
G
A
C
C
T
G
C
T
T
C
T
A
T
T
A
G
C
C
C
T
T
C
T
C
C
A
T
G
G
C
C
C
T
G
C
C
A
T
G
C
T
C
T
C
C
A
A
A
19100
C
C
A
C
T
T
T
T
T
G
C
A
G
C
T
T
T
C
T
C
T
A
G
T
T
C
A
A
G
T
T
C
A
C
C
A
G
A
C
T
C
T
A
T
A
A
A
T
A
A
19150
A
A
C
C
T
G
A
C
A
G
A
C
C
A
T
GACTT TCTCTGCTTT GCCTTTG
T
T
T
T
T
T
T
A
T
T
T
T
T
19200 |
REPEAT
T
A
T
T
T
T
T
T
A
T
T
T
T
T
T
T
T
A
G
G
C
A
G
G
G
T
C
T
C
A
A
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
A
G
A
G
19250
T
A
C
A
G
T
G
G
T
G
A
G
A
T
C
A
T
G
G
T
T
C
A
C
T
G
C
A
G
C
C
T
T
A
A
C
C
T
C
C
T
G
A
G
C
T
C
A
A
A
19300
C
A
A
T
C
C
T
C
C
C
A
T
C
T
C
A
G
C
C
T
C
C
T
A
T
G
T
A
G
G
T
G
G
G
A
C
C
A
C
A
T
G
G
G
C
T
T
G
C
C
19350
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
T
T
T
G
T
A
A
A
G
A
C
A
G
G
G
T
C
T
T
A
C
T
A
T
19400
G
T
T
G
C
C
T
A
G
G
C
T
G
G
T
C
T
C
C
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
A
T
C
C
T
A
A
C
A
C
19450
A
G
C
C
T
C
C
C
G
A
A
G
T
G
C
T
G
G
G
A
T
T
G
T
A
G
G
C
AC ACCATACCTC TCCTTTGCCT
19500
TTGAATATCA GCTGCTTCAA TACTAAAGGA CAAGAGCGCC CATGGTTCC
T
19550 |
REPEAT
G
T
A
T
C
A
G
C
C
A
G
C
T
A
T
T
G
C
T
G
T
A
T
A
G
T
A
A
G
T
C
A
C
G
T
T
A
A
A
C
T
T
A
G
T
G
G
C
T
T
19600
C
A
A
A
C
A
G
C
A
A
C
C
C
T
T
T
G
T
T
A
T
T
T
T
A
T
G
T
A
A
G
T
T
T
C
A
G
A
G
T
T
G
A
C
T
A
G
G
T
G
19650
T
T
T
T
G
C
T
G
A
T
C
T
G
G
G
C
T
G
A
A
C
C
T
G
G
C
T
G
A
T
C
T
T
C
C
C
T
G
G
G
C
T
C
A
T
T
C
A
T
A
19700
C
A
T
C
T
G
T
A
A
G
G
T
A
T
A
G
T
T
G
T
T
G
G
G
T
T
G
G
T
T
A
G
G
G
G
A
T
G
A
C
T
G
G
T
C
T
T
C
T
G
19750 |
NOT SCANNED
T
G
G
C
C
T
C
A
G
C
C
A
T
G
A
C
A
C
C
A
G
G
A
C
A
A
C
T
T
G
G
C
T
C
T
T
C
T
A
C
A
T
G
T
C
T
T
G
T
A
19800
T
G
T
C
C
T
T
C
C
A
A
C
A
G
G
C
T
A
G
T
C
T
G
T
A
A
T
G
G
A
A
A
A
G
A
G
T
C
A
A
A
C
A
G
C
C
A
G
T
C
19850
T
C
T
T
T
T
T
G
T
T
T
A
C
C
A
T
T
G
T
C
C
T
G
C
A
G
C
C
A
A
A
G
C
A
A
A
T
C
A
C
A
G
G
A
C
C
A
A
A
C
19900 |
REPEAT
C
T
A
G
A
G
T
T
A
G
A
C
T
G
G
A
A
A
A
G
C
A
C
T
A
C
A
A
A
G
T
G
A
C
A
G
G
G
C
A
A
A
G
A
G
A
C
G
T
T
19950
A
A
T
T
G
G
G
G
A
C
T
A
T
T
C
A
T
G
C
A
G
T
C
C
A
T
T
T
C
T
C
A
C
A
G
C
C
C
C
T
A
T
C
T
T
G
C
T
T
A
20000
T
T
T
G
T
C
T
G
C
A
A
C
A
A
C
T
C
T
G
A
C
A
A
C
A
A
T
A
A
T
G
A
C
A
G
T
A
G
C
T
A
A
C
G
T
T
G
G
G
A
20050
A
C
A
T
A
G
G
C
A
G
T
C
T
G
C
T
A
A
G
A
G
T
T
T
T
G
C
A
G
G
C
A
T
T
T
A
A
T
C
T
T
C
A
C
A
A
T
A
A
A
20100 |
REPEAT
T
T
T
A
T
A
T
G
G
T
A
A
A
T
T
C
A
G
A
G
A
G
G
C
T
A
A
G
T
C
T
T
G
T
T
C
A
A
A
G
T
C
C
T
G
T
A
G
T
T
20150
A
G
G
A
A
A
T
G
A
T
G
A
A
A
C
T
G
A
G
A
T
T
T
A
A
T
A
G
C
A
C
C
T
C
T
T
A
T
G
A
C
T
C
T
T
T
T
T
T
T
20200 |
REPEAT
T
T
T
G
A
G
A
C
A
A
A
G
T
T
T
C
T
C
T
T
T
T
G
T
T
G
C
C
A
A
G
G
C
T
T
G
A
G
T
A
T
A
A
T
A
G
C
A
C
A
20250
A
T
C
T
C
G
G
C
T
C
A
C
T
G
T
A
A
C
C
T
C
T
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
T
G
C
20300
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
C
A
A
G
C
A
T
G
C
A
C
T
A
C
C
A
C
A
C
C
T
G
G
C
20350
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
C
C
G
20400 |
REPEAT
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
T
T
G
T
C
G
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
A
A
T
C
T
T
20450
G
G
C
T
T
A
C
T
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
T
A
G
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
20500
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
C
A
C
C
A
C
C
A
A
G
C
C
C
A
G
C
T
A
A
C
T
T
T
T
G
20550
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
A
T
G
T
G
G
A
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
20600
C
T
C
C
T
G
A
C
T
C
C
A
A
G
T
G
A
T
C
T
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
C
A
T
20650
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
G
G
C
C
T
A
G
T
G
A
A
A
A
C
A
A
T
C
T
T
C
T
T
T
A
C
T
20700 |
REPEAT
C
A
G
T
C
T
A
C
C
A
G
C
T
C
A
A
A
T
A
C
C
A
G
T
C
T
C
T
T
C
A
G
G
A
A
A
C
A
A
C
C
T
C
A
C
A
G
A
C
A
20750
C
A
C
C
C
A
G
A
A
A
T
G
A
T
A
T
C
T
T
A
C
C
A
G
T
T
G
T
C
T
G
G
G
C
A
T
C
C
C
T
T
A
G
C
C
C
A
G
T
A
20800
A
A
A
T
T
G
A
C
A
C
A
T
A
A
A
T
T
T
A
A
C
C
A
C
C
C
C
A
C
A
C
C
T
T
C
C
C
T
T
C
T
C
A
G
T
T
T
C
C
C
20850
A
A
A
G
T
C
A
A
T
C
T
C
T
C
A
G
G
C
T
G
C
T
G
G
G
A
A
G
A
C
C
C
C
A
A
A
T
T
C
C
T
G
T
C
T
G
G
G
T
G
20900
G
G
T
C
C
C
G
C
T
T
T
G
A
T
T
C
T
T
A
T
G
T
G
A
G
G
A
A
C
T
G
T
T
G
A
A
A
G
C
A
A
A
G
G
C
A
C
C
C
C
20950
C
C
A
A
A
T
T
C
A
G
G
A
A
G
A
T
T
C
C
C
C
T
C
T
C
C
T
T
G
G
G
G
A
G
A
T
C
C
T
G
A
C
A
T
G
A
T
G
A
A
21000
G
G
T
G
G
T
G
C
T
C
A
G
C
A
C
C
A
A
C
C
T
G
A
A
T
T
G
T
G
A
A
C
C
A
A
C
A
A
A
G
T
C
A
G
G
A
G
G
T
G
21050
G
A
A
G
G
T
G
A
T
T
C
T
G
A
C
C
C
C
T
G
T
G
G
G
G
G
T
C
A
A
A
T
C
T
C
T
T
T
G
A
C
C
C
T
T
C
C
A
A
T