CKM 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
C
T
A
A
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
C
A
T
G
T
T
G
G
C
C
A
G
G
C
50 |
REPEAT
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
C
G
C
C
T
C
T
G
C
C
T
100
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
G
G
G
C
C
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
G
G
C
C
CATCTAA
150
CA
T
T
T
T
C
A
C
T
G
T
C
A
A
T
C
A
C
A
A
T
G
G
G
A
T
T
A
A
A
A
C
T
C
C
T
C
C
C
A
C
A
G
C
C
C
C
T
A
200 |
REPEAT
G
G
G
C
A
C
C
A
C
C
A
T
G
G
G
T
C
T
G
C
T
C
C
T
G
T
C
T
C
C
C
C
T
C
C
A
A
C
C
T
C
A
T
C
T
T
C
T
T
C
250 |
var(209):[:0.98]
C
T
C
C
C
A
C
T
C
T
C
T
C
C
T
T
G
G
C
C
C
C
A
T
C
T
G
C
T
C
C
A
G
T
C
C
C
C
T
G
G
C
C
T
C
C
T
T
C
C
300 |
var(275):[G:0.14]
T
G
T
C
T
G
T
C
C
T
C
A
G
A
T
G
T
G
C
C
C
A
G
C
C
A
T
T
C
T
C
A
C
C
T
C
A
G
C
G
C
C
T
T
T
G
C
A
C
C
350
T
G
C
T
G
T
T
C
C
C
C
C
C
A
G
A
G
C
C
G
C
A
C
A
T
G
G
C
T
G
G
C
T
C
C
C
T
G
T
T
C
T
C
C
T
T
C
A
G
G
400 |
var(363):[A:0.03]
T
C
T
C
T
G
C
T
C
A
G
A
T
G
T
C
A
T
C
T
T
C
C
C
A
A
A
G
A
G
G
C
C
T
G
C
C
T
C
G
A
C
C
T
C
C
C
CTG
450
CTGCTGTGCC GTCCCCTCAT CTGTGACCCT CTTGCACTAT CACCTCCAGG
500
ACGGCGGGGG TTTTGTGTTT TGTTGTAGCC TCAGGAAGTG CCTGATAGAT
550
CCCTGTTTCG AGACCAGTTC CATTTGGTTT TCTGGGCCTC AGTTTCCGTA
600
ACCGTGAAGG AGACCCTCGG CAATCTGAGC TTGCTGGGAA AGGGCTGGGC
650
CCCATGTAAA TATTTCTAAA GCACCCCTCT CCCCTCCCCC CTCAGATCAG
700
GAGTCTGAGG GAGAGGCACA GAGGCTCCCT TTCTCTAAGC CAGTCCTCAC
750
CTGCCT
A
A
G
A AGATGTGAAG GAGACCCAGG AGACCCTGGG ATAGGGAGGA
800 |
var(757):[:0.01]
ACTCAGAGGG AAGGGACATT CTTTTCTTCG TCGCAATCCT GGGAGCTCCC
850
TGGAGGAGGA GACCCGATCA GCCTGCAATC CTGGCGCGTC CCAGGAGGAG
900
AAAGCGGCTT CCTCTATACT GTACTCTCCT CCACAGAACC CCC
C
TCTCAG
950 |
var(944):[T:0.03]
CCCTGGAAGT CCTTGCTCAC AGCCGAGGCG CCGAGAGCG
C
TTGCTCTGCC
1000 |
var(990):[A:0.03]
CAGATCTGCG CGAGTCTGGC GCCCGCGCTC TGAACGGCGT CGCTGCCCAG
1050
CCCCCTTCCC CGGGAGGTGG GAGCGGCCAC CCAGGGCCCC GTGGCTGCCC
1100
TTGTAAGGAG GCGAGGCCCG AGGACACCCG AGACGCCCGG TTATAATTAA
1150
CCAGGACACG TGGCGAACCC CCCTCCAACA CCTGCCCCCG AACCCCCCCA
1200
TACCCAGCGC CTCGGGTCTC GGCCTTTGCG GCAGAGGAGA CAGCAAAGCG
1250
CCCTCTAAAA ATAACTCCTT TCCCGGCGAC CGAGACCCTC CCTGTCCCCC
1300
GCACAGCGGA AATCTCCCAG TGGCACCGAG GGGGCGAGGG TTAAGTGGGG
1350
GGGAGGGTGA CCACCGCCTC CCACCCTTGC CCTGAGTTTG AATCTCTCCA
1400
ACTCAGCCAG CCTCAGTTTC CCCTCCACTC AGTCCCTAGG AGGAAGGGGC
1450
GCCCAAGCGC GGGTTTCTGG GGTTAGACTG CCCTCCATTG CAATTGGTCC
1500
TTCTCCCGGC CTCTGCTTCC TCCAGCTCAC AGGGTATCTG CTCCTCCTGG
1550
AGCCACACCT TGGTTCCCCG AGGTGCCGCT GGGACTCGGG TAGGGGTGAG
1600
GGCCCAGGGG GCACAGGGGG AGCCGAGGGC CACAGGAAGG GCTGGTGGCT
1650
GAAGGAGACT CAGGGGCCAG GGGACGGTGG CTTCTACGTG CTTGGGACGT
1700
TCCCAGCCAC CGTCCCATGT TCCCGGCGGG GGGCCAGCTG TCCCCACCGC
1750
CAGCCCAACT CAGCACTTGG TCAGGGTATC AGCTTGGTGG GGGGGCGTGA
1800
GCCCAGCCCC TGGGGCGGCT CAGCCCATAC AAGGCCATGG GGCTGGGCGC
1850
AAAGCATGCC TGGGTTCAGG GTGGGTATGG TGCGGGAGCA GGGAGGTGAG
1900
AGGCTCAGCT GCCCTCCAGA ACTCCTCCCT GGGGACAACC CCTCCCAGCC
1950
AATAGCACAG CCTAGGTCCC CCTATATAAG GCCACGGCTG CTGGCCCTTC
2000
CTT
T
G
G
G
T
C
A
G
T
G
T
C
A
C
C
T
C
C
A
G
G
A
T
A
C
A
G
A
C
A
G
C
C
C
C
C
C
T
T
C
A
G
C
C
C
A
G
2050 | Exon 1 |
UTR
C
C
C
A
G
C
C
A
G
G TACTGCACGG GGCGGGAATC TGGGTGGGGG CCAGAGTAGG
2100
GGATTTCTGT GGGTGCTAGA GGCTTGGCTT GGGAAAGGGT CTGTGTGTCA
2150
CCCCTTGCTC CACCAACATC CTCCTATACA AAGGCAGGT
C
GGTGCGTGGG
2200 |
var(2190):[T:0.02]
AAGGTTGACC CTTGTGTGTC TGGGAGGCCC CTCCATCTGT GAGGCTGCCT
2250
GAACCCCCCA CTGGGACCTG TGATTTCTGC GGCACAAGTC TTGGGTTATG
2300
GGGAGGGATC C
G
AGATGAAA GGGGTCCTGA CAGCTGCCAA CTGTCACCCC
2350 |
var(2312):[A:0.02]
CTGCAAGGGG CTGTTGAGCC AGGCCTGTGT TCATTACAGT TTGTCGCCAA
2400
CACTGGCGCC ACAAGCCGTG GGAGGTGTGT CTGTCGCCTA GCAGAGTCTG
2450
CAAGAGCAGG TGTCGCAGGC TTTCTTTGCG TTTGCTACTG TGTGGGTCCC
2500
TGTGACCTTG T
A
TCTGACTT AGTAGCGGAC ACATGAGTGT CCTGGGCATG
2550 |
var(2512):[T:0.42]
TCCTTGAGTT TGGAAGTGTG ACTGTGTGAC TTAGTTTACA GTGTGATCTG
2600
GGGAGTCTGC GGTGGTGGGG GTGTGTGGCT CTGGGGCTTT CTGCTTATGT
2650
CTCTTGT
C
GG GGGGGTCACC ACCCTGCCTC AGTGCCCTCT CCTGGGGTGT
2700 |
var(2658):[G:0.48]
CCCTGGCAGG GATTAGGGGG GCA
T
CCTCTG AAGGGAGGGG GTCTGGGCTG
2750 |
var(2724):[A:0.15]
CCATCCCAGG ATGTCCTTGA GCCCCGAGGC CTGGACCCGT GTCCTCCCAG
2800
CCACCCTGGC CCACCTGTCT TGGGCCTGCT GACTTGGTGC AAGCCGAGCC
2850
CCGGAATGTG GGGGTGGGGC GGGGCAGCAG CTGGGGGTGG GATGGCAGGC
2900
AGTTGCCAGA TTCTAAAAAT AACCACCCTG GACAGCAGCA CCCAAGGTCT
2950
TTGG
C
GGGTC CCTGTTCCTC TTCCCTGGCT TCAGCTCACC GTGGTCCCAA
3000 |
var(2955):[G:0.01]
TCTCCCTCCC ACAATCCCAC CTGCTTCCCA TCCCCGTCTC CCACCGCTGC
3050
TGGAGGCCCC TTCTCCTTTC TGGGTCCCTT CTCCTTTCTG GGTCCAGTGA
3100
ATAAAATAAT AATAACA
G
TA G
G
A
C
C
T
G
G
C
G
C
A
G
T
G
G
C
T
C
A
C
A
C
G
C
A
T
A
A
T
3150 |
var(3118):[A:0.02]
|
REPEAT
C
C
C
A
G
C
A
T
C
T
T
G
G
G
A
G
G
C
C
G
A
T
G
C
T
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
G
T
C
3200
C
C
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
C
A
T
C
T
C
T
G
C
A
A
A
A
A
A
G
TAG
3250 |
var(3247):[A:0.02]
TAATAACAAA TAACAATAAT AGCAGCCACC AGGGTTCCAG GCTCCA
A
C
T
C
3300 |
REPEAT
C
A
T
G
C
C
A
G
G
G
C
C
T
G
T
G
C
T
C
A
G
C
C
A
A
C
C
T
C
A
T
G
G
C
C
A
A
G
C
T
C
A
G
A
G
G
A
T
C
C
3350
T
G
G
C
A
A
T
C
C
T
A
C
G
G
G
G
C
A
G
G
C
T
C
A
G
T
T
C
A
C
A
G
G
A
G
A
C
A
G
A
G
G
T
C
C
A
G
A
G
A
3400
G
G
C
C
T
A
G
T
G
A
C
T
G
G
C
C
T
G
G
G
G
T
C
A
C
A
C
A
G
C
A
G
G
G
A
A
A
T
G
G
C
A
T
A
G
G
T
G
G
G
3450
A
T
T
T
G
A
A
C
C
T
G
C
C
T
C
T
G
A
C
G
A
C
C
C
A
G
A
G
G
C
T
G
A
G
C
T
T
T
T
C
T
T
C
C
C
T
T
C
T
G
3500
A
G
C
C
CTGTGG GAGAACTGTC AGCAGGCAGA GGTGGGGGCA GC
T
ACCCAGC
3550 |
var(3543):[C:0.02]
CCTCCCCCGA CCCAGCCCTT TGTCTTTGGA TTGATAATCC AAGAACCTGC
3600
TCACATACTC CCAGCAGCAC CCTCACCTCC ACCTTCTCAC CAGCTCCTCG
3650
CACGAA
C
CTT TAAAATAACA ACAACA
G
G
C
C
A
G
G
T
G
C
C
G
T
G
A
C
T
C
A
T
G
C
C
T
3700 |
var(3657):[T:0.01]
|
REPEAT
G
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
A
G
A
G
G
T
G
G
G
C
G
G
A
T
C
A
C
T
T
G
A
G
T
T
C
A
G
3750
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
C
G
A
A
A
C
C
C
C
A
A
C
T
C
T
A
C
T
A
A
A
A
3800
A
T
A
C
C
A
A
A
A
A
A
A
A
A
A
A
T
A
G
C
C
A
G
G
T
G
T
G
G
C
A
C
A
C
G
C
C
T
G
T
A
G
T
T
G
C
A
G
C
T
3850
A
C
T
C
A
G
G
A
G
G
C
T
G
A
A
G
C
A
G
G
A
T
A
G
T
T
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
G
A
G
G
T
T
3900 |
var(3871):[G:0.01]
G
C
A
G
T
G
A
A
C
T
G
A
G
A
T
T
A
T
G
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
3950 |
var(3920):[T:0.47]
|
var(3934):[T:0.34]
G
A
C
T
C
T
G
T
C
T
C
A
A
A
C
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
A
T
A
G CAGCTAAGTG
4000
AAAT
A
A
T
G
C
T
T
A
T
T
G
T
G
T
A
C
C
A
G
G
C
A
C
T
G
T
T
C
C
G
A
G
A
G
C
T
A
C
A
C
C
T
G
T
A
T
4050 |
REPEAT
T
C
A
C
A
C
A
T
T
T
A
A
T
C
T
T
T
T
C
A
A
C
A
C
T
C
C
C
A
T
G
C
G
G
C
A
A
G
T
G
C
T
G
T
T
A
G
G
A
T
4100 |
var(4074):[T:0.02]
C
C
T
C
A
T
T
T
T
C
T
A
G
A
T
G
A
G
T
A
A
A
T
T
G
A
G
G
C
A
C
A
G
A
G
G
T
T
A
A
G
C
A
A
C
T
T
G
C
C
4150
C
C
T
G
G
C
C
A
C
A
C
A
G
C
T
G
G
T
T
G
T
A
G
G
T
A
G
C
A
G
A
G
C
T
G
G
G
A
A
T
C
A
A
A
C
C
C
T
G
G
4200
G
C
T
G
A
T
T
C
C
A
G
A
A
C
C
T
A
C
A
C
T
C
T
T
A
C
C
C
A
C
ACAAAATATT TTTCCAGCCT
4250
CCGGGAGGGG
C
C
C
G
T
T
T
T
C
C
A
C
C
T
G
G
G
G
A
A
A
T
T
G
A
G
T
T
T
C
C
A
G
C
A
A
G
A
A
T
4300 |
REPEAT
G
A
C
T
A
G
T
C
C
A
G
G
C
T
C
A
C
C
C
A
A
C
T
G
G
G
A
T
A
C
G
G
C
A
G
A
G
C
C
A
G
G
C
C
C
T
T
G
A
T
4350
C
T
A
A
G
A
C
T
C
C
G
G
A
T
G
C
C
T
T
C
C
T
G
C
T
G
A
G
A
C
A
C
A
G
G
G
G
C
T
C
A
G
A
G
A
G
A
G
G
A
4400 |
REPEAT
T
T
T
C
T
C
T
T
G
C
T
C
C
A
A
G
T
T
A
C
A
C
A
G
C
CTGCC TGACCCCAAC GCCTTGCCCA
4450
GTTCTC
T
TGC TGCTGTCTGC AAGA
C
GCGAG CTA
G
G
C
G
G
G
G
C
A
C
A
G
T
G
G
C
T
4500 |
var(4457):[G:0.01]
|
var(4475):[T:0.43]
|
REPEAT
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
T
T
G
4550
A
G
G
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
C
A
G
T
A
G
A
G
A
T
G
G
T
G
A
A
A
C
C
4600
C
C
A
T
C
T
C
T
A
A
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
T
G
T
G
C
G
C
4650 |
var(4648):[T:0.02]
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
A
C
A
G
G
A
G
A
A
T
C
T
C
T
T
G
A
A
C
C
T
4700
G
G
G
A
G
G
T
G
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
A
G
G
T
C
T
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
A
C
C
T
4750
G
G
G
T
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
G
A
A
G
A
A
A
A
G
G
C
C
G
G
G
T
G
4800 |
var(4762):[:0.01]
|
REPEAT
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
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
G
G
4850
A
T
C
A
C
A
A
G
G
T
C
A
G
G
A
G
A
T
C
A
A
G
A
C
T
A
T
C
C
T
G
G
C
T
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
4900
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
G
A
G
C
C
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
4950
A
T
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
A
G
A
A
T
G
G
T
G
T
G
A
A
C
C
C
A
G
G
A
5000 |
var(4964):[C:0.24]
G
G
T
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
5050
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
G
A
A
G
A
A
G
A
A
G
A
A
A
5100
A
AAGATGCCA GCTAATCTTC AATCTTCCCC T
C
CTGCCCTG CCCATCAG
G
T
5150 |
var(5132):[T:0.02]
| Exon 2 |
UTR
C
T
C
C
T
A
C
A
C
C
G
C
C
A
C
C
A
T
G
C
C
A
T
T
C
G
G
T
A
A
C
A
C
C
C
A
C
A
A
C
A
A
G
T
T
C
A
A
G
C
5200
M P F G N T H N K F K 11
T
G
A
A
T
T
A
C
A
A
G
C
C
T
G
A
G
G
A
G
G
A
G
T
A
C
C
C
C
G
A
C
C
T
C
A
G
C
A
A
A
C
A
T
A
A
C
A
A
C
5250
L N Y K P E E E Y P D L S K H N N 28
C
A
C
A
T
G
G
C
C
A
A
G
G
T
A
C
T
G
A
C
C
C
T
T
G
A
A
C
T
C
T
A
C
A
A
G
A
A
G
C
T
G
C
G
G
G
A
C
A
A
5300
H M A K V L T L E L Y K K L R D K 45
G
G
A
G
A
C
T
C
C
A
T
C
T
G
G
C
T
T
C
A
C
T
G
T
A
G
A
C
G
A
T
G
T
C
A
T
C
C
A
G
A
C
A
G
G
A
G
T
G
G
5350
E T P S G F T V D D V I Q T G V 61
A
C
A
A
C
C
C
A
G
G TGAGCCTCCC CAGTGGAGCA CTGAAGGGGC TACATGGGGG
5400
D N P 64
CTCTGGAGGC TGCCGGC
C
AT GCCCCAATCC CACCAC
C
CTT GAAGG
G
GGGG
5450 |
var(5418):[T:0.02]
|
var(5437):[T:0.02]
|
var(5446):[T:0.01]
GGG
G
C
C
T
C
A
G
T
T
T
T
C
T
C
A
T
C
T
G
T
A
A
A
A
T
G
G
G
G
C
T
G
T
T
G
T
G
G
G
A
A
T
C
A
A
T
G
5500 |
REPEAT
C
A
T
T
A
A
T
A
T
A
C
A
T
A
A
A
G
G
C
T
T
G
G
G
A
C
A
G
T
G
C
G
A
G
G
T
A
C
T
C
A
G
C
A
A
A
C
C
A
C
5550
G
C
A
A
T
A
A
A
C
A
T
GCACGAGAA TAA
T
G
T
G
A
G
A
T
C
C
C
C
A
A
G
G
A
G
G
T
C
G
G
T
T
C
A
5600 |
REPEAT
C
C
T
C
C
T
G
A
A
C
C
T
C
A
G
T
C
T
C
C
T
C
A
T
C
T
G
A
A
A
A
A
T
G
G
G
C
G
C
C
C
A
C
G
T
T
G
T
G
A
5650 |
var(5643):[T:0.01]
A
A
A
C
A
C
A
A
G
T
C
A
A
T
G
G
C
T
G
T
G
C
A
G
T
G
C
T
T
A
G
A
G
T
G
G
C
A
C
C
T
G
G
C
A
C
C
A
A
G
5700
T
G
A
G
T
G
C
T
C
A
A
GCTCTGACA GGGG
G
G
C
C
A
G
G
T
G
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
5750 |
REPEAT
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
C
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
G
A
5800
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
G
C
A
A
C
A
T
A
G
C
A
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
5850
A
C
A
A
A
A
A
A
A
T
T
A
G
C
C
A
A
G
T
G
T
G
G
T
G
A
T
G
A
G
G
G
C
T
T
G
T
G
G
T
C
C
A
A
G
C
T
A
C
T
5900
C
A
G
G
A
G
G
C
T
G
C
G
G
T
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
T
G
G
G
A
G
G
T
G
C
A
G
G
T
T
G
C
A
5950
G
T
A
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
T
A
C
T
C
C
A
G
C
C
A
C
A
G
A
G
T
G
A
G
A
C
C
C
T
G
T
C
6000
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
TCTGACAGGG GATGTTATTA ATGTTATGGT
6050
TGTTTCTCAA AGGACATTGC AAG
G
C
G
A
A
G
A
G
A
G
C
T
G
G
G
A
G
T
G
G
A
G
G
G
G
A
G
6100 |
REPEAT
|
var(6091):[C:0.01]
G
C
T
C
T
A
G
T
G
C
C
C
C
T
C
A
C
A
T
C
C
A
G
C
T
C
A
C
T
G
T
G
T
G
A
T
G
C
C
G
G
G
G
A
G
A
A
G
C
C
6150 |
var(6140):[A:0.03]
C
C
T
C
T
C
T
C
C
T
G
G
C
C
C
C
T
G
T
T
T
T
T
C
C
A
C
T
G
G
G
A
A
A
C
A
A
G
A
G
G
G
T
CTTTCAA
6200
GTCTCTTACC CTCCTGACCC TCTGTGGTAC GGTGGTAGCC TGAGATCCTA
6250
ACATTTCAGG CTAAGATGTC ATGACTTTGG GTGCTAATGT TTCCGAGGTG
6300
CTGATGCTTT TAGCACCATG TACCCTCTGA AGCTCCCCTT TCTCCTTTGA
6350
CCCC
G
CCCCC AGCACTCTTT CTTCTCTCCC ACCTTGACCC CTCCCAGCCA
6400 |
var(6355):[A:0.01]
CCTTGACCTC TCCCAGCCTT CCCTCCCAGT TCCCACCAGT CCTCAGTG
T
T
6450 |
REPEAT
C
T
C
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
C
C
T
T
T
G
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
6500
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
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
A
C
T
C
C
C
T
T
6550
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
A
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
6600
T
G
T
G
T
G
C
C
C
C
A
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
C
A
G
A
G
A
T
G
G
G
G
T
T
6650
T
C
A
C
C
C
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
C
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
A
G
A
T
T
C
A
C
6700
C
C
G
C
C
T
C
A
C
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
G
C
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
T
G
C
C
6750
C
A
A
C
C
CTTAT GATTCTCAAT TCCCACCCAG AGGTATTGAA TGTACCCGCC
6800
CCCATCCCGA CACACATGTC CACACAGGCT CCACTGAGCC CACAAGCCCA
6850
CGCCCTGTTT GCTGGGGACA AGCAGCTCTG ACCTCACCCC CACCCCTCCA
6900
G
G
T
C
A
C
C
C
C
T
T
C
A
T
C
A
T
G
A
C
C
G
T
G
G
G
C
T
G
C
G
T
G
G
C
T
G
G
T
G
A
T
G
A
G
G
A
G
T
C
6950 | Exon 3
G H P F I M T V G C V A G D E E S 81
C
T
A
C
G
A
A
G
T
T
T
T
C
A
A
G
G
A
A
C
T
C
T
T
T
G
A
C
C
C
C
A
T
C
A
T
C
T
C
G
G
A
T
C
G
C
C
A
C
G
7000 |
var(6956):[G:0.01]
Y E V F K E L F D P I I S D R H 97
G
G
G
G
C
T
A
C
A
A
A
C
C
C
A
C
T
G
A
C
A
A
G
C
A
C
A
A
G
A
C
T
G
A
C
C
T
C
A
A
C
C
A
T
G
A
A
A
A
C
7050 |
var(7044):[C:0.01]
G G Y K P T D K H K T D L N H E N 114
C
T
C
A
A
G
GTCG GTGTCTGCGC AGGAGGGGAG GGCCGAGGGG TGAGGAGGAG
7100
L K 116
AGAGATCACA GGAGAAATGG GGGGAGACAG AGAAATACAG AGACAGAGAG
7150
AGACACAGAG GTGTGGAGAA GCAGAGAGAT GGAAAGAGAG AGGG
A
C
A
T
T
G
7200 |
REPEAT
G
G
A
G
G
C
T
G
A
G
G
C
G
A
G
C
G
T
A
T
C
A
C
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
7250 |
var(7212):[T:0.34]
G
G
C
C
A
A
C
A
T
G
G
C
A
A
A
A
C
T
C
T
G
T
C
T
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
G
C
T
G
G
G
C
A
7300 |
REPEAT
C
G
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
7350
C
A
G
A
T
C
A
C
C
T
T
A
G
A
T
T
G
A
G
A
G
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
T
G
A
A
7400
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
G
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
A
C
A
T
G
C
7450
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
G
T
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
7500
G
G
A
A
G
G
C
A
G
A
G
G
T
T
G
T
G
G
T
G
A
G
C
A
G
A
G
A
T
C
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
7550 |
var(7531):[A:0.01]
G
G
G
C
A
A
C
A
A
G
G
G
C
G
A
A
A
C
T
C
G
T
C
T
C
A
A
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
7600 |
var(7599):[T:0.28]
A
A
T
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
G
C
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
7650 |
REPEAT
G
A
G
G
T
G
G
A
G
G
C
A
G
G
A
A
A
A
T
C
T
C
T
T
G
A
A
C
C
C
A
G
G
A
G
A
T
G
G
A
G
G
C
T
G
C
A
G
T
G
7700
A
G
C
T
G
A
G
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
T
G
A
C
A
G
A
G
C
A
A
G
A
T
T
C
T
7750
A
T
C
T
C
A
G
A
A
A
A
T
A
A
A
A
A
A
A
G
G
A
A
A
G
A
G
A
G
A
GGGACAGAGA GACACAGAGA
7800
CAGCCAAGGA GACACAGACA ACCAAGGAGA CAGACAGACA AAGGAGAGGG
7850
AGAGGGAGAA GAAAGGCACA AAAGCATGTA GAAAAGGAAG AGGCAT
A
G
C
C
7900 |
REPEAT
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
G
C
T
T
G
T
A
A
T
C
C
C
A
A
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
7950 |
var(7901):[C:0.08]
|
var(7917):[C:0.23]
G
G
C
G
G
A
T
C
A
T
A
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
C
A
A
C
A
C
G
G
T
G
A
A
8000 |
var(7975):[A:0.04]
|
var(7995):[A:0.06]
A
C
C
C
A
G
T
C
T
C
T
A
T
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
A
G
G
C
A
T
G
C
T
A
G
T
G
T
T
C
A
8050 |
var(8013):[C:0.23]
|
var(8043):[G:0.36]
C
C
T
A
T
A
A
T
C
C
T
A
G
C
T
A
T
T
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
T
G
C
C
T
A
A
8100
A
A
A
A
A
A
A
A
GG GTGGGGGGAG AGGCAGAGAC ACAGAGGGAG ACAGAAGGGA
8150
GCATCAGAGA AGGCAGGAGA GACAGGGAGA GAGAGACACA CGCAGTTGCA
8200
GTCAGACACA GACAAGGAGA GTGGGAGAAA GGGAGACAGG AAGAGAAACA
8250
GAAATGGGCA GAAA
G
G
C
T
G
G
G
T
G
C
A
G
T
G
G
C
T
A
T
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
8300 |
REPEAT
T
T
A
T
G
G
A
G
G
C
T
G
A
G
G
T
G
T
G
A
G
G
A
T
C
A
C
G
T
G
A
A
G
C
C
A
G
G
A
G
A
G
T
T
C
A
C
G
A
C
8350
C
A
G
C
T
T
G
G
G
C
A
A
C
A
T
A
G
C
A
A
G
A
A
C
C
C
G
T
C
T
C
T
G
C
C
C
A
A
A
A
A
A
A
A
G
A
A
A
A
A
8400
A
A
AAAGCCTA AAAATTT
A
G
C
T
A
G
G
C
A
T
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
8450 |
REPEAT
T
C
A
C
G
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
C
T
G
T
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
T
G
A
G
8500 |
NOT SCANNED
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
C
A
C
C
C
T
G
T
C
T
C
T
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
8550 |
REPEAT
T
G
A
G
A
C
A
G
A
A
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
T
T
G
G
A
G
T
G
C
A
G
T
G
G
C
T
C
G
A
T
C
8600
T
C
A
G
C
T
C
A
C
G
G
A
A
A
C
C
C
C
T
G
A
T
C
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
G
T
G
C
C
T
C
8650
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
G
C
A
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
8700
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
A
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
A
G
C
T
G
G
T
8750
T
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
T
G
G
C
T
C
A
C
C
T
C
G
G
C
T
T
C
C
C
A
A
A
G
T
G
T
8800
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
A
G
C
C
C
C
T
G
T
C
T
C
T
A
T
T
T
A
T
A
A
8850 |
REPEAT
A
A
A
A
T
T
T
A
T
T
T
T
A
A
G
T
T
A
G
C
C
G
A
A
C
A
T
G
G
T
G
G
C
A
T
A
T
A
C
C
T
A
C
C
T
G
T
T
A
G
8900
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
G
G
A
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
8950
T
T
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
T
G
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
9000
C
A
G
A
G
A
G
A
G
A
C
C
C
T
G
T
C
T
C
G
A
A
G
A
A
A
A
A
A
A
A
G
G
A
A
A
A
G
A
A
A
TATACGAAG
9050
ATGGGGAGAG AGAGGTATAA AGAAAAACAG AGATAGGAGA GGGGAGAGAG
9100
ACAGAGAAGG GAGAGACAGA GCCCAGGTAT GGGTGGCGGG GAGAGGCTCC
9150
ACACACCCAA TCAGTGAGGA TGCAGAAGGC AAAGGAAGCA ACAGGGAGAC
9200
TGAGGGGAGC ATCTGGGGGA GACCTGGGCT TGCTGGAGAG GGCGGAGGAT
9250
CTGCCTGGTC CTGATCTCCC ACCCGCTCTC CAG
G
G
T
G
G
A
G
A
C
G
A
C
C
T
G
G
A
9300 | Exon 4
G G D D L D 122
C
C
C
T
A
A
C
T
A
C
G
T
G
C
T
C
A
G
C
A
G
C
C
G
C
G
T
C
C
G
C
A
C
T
G
G
C
C
G
C
A
G
C
A
T
C
A
A
G
G
9350 |
var(9304):[C:0.44]
|
var(9314):[G:0.01]
P N Y V L S S R V R T G R S I K 138
G
C
T
A
C
A
C
G
T
T
G
C
C
C
C
C
A
C
A
C
T
G
C
T
C
C
C
G
T
G
G
C
G
A
G
C
G
C
C
G
G
G
C
G
G
T
G
G
A
G
9400
G Y T L P P H C S R G E R R A V E 155
A
A
G
C
T
C
T
C
T
G
T
G
G
A
A
G
GTGA GCGCCCCTAC CCCGTCCACT GCTGGGGTCA
9450
K L S V E 160
CCCAGCCCTG GCTCTGTTCC TCCATGGGCA GGTCCTCGGG TCTCTTTGGG
9500
CCCCCGCTTT
T
CAAAGTAGG GGAAGAGCTT GGTAAATCGT GGGGGCTTGG
9550 |
var(9511):[C:0.43]
GGAATGG
C
GC GGGCTGTCAG CATTACCTGC TGTGTTGGAG ATTCAGGGAT
9600 |
var(9558):[T:0.05]
GCTGTCCAGA C
C
C
GACGGCC CCTGAGAAGA CCTACGCAGA CACCTGGCTG
9650 |
var(9612):[T:0.36]
|
var(9613):[T:0.30]
CCCCCAGCGT CCTGCCATCC GTTCATCCAG CACACATTTC CAGGGGTTCT
9700
TGCCCTGTGT GGGGAGATAG GGGTCCCTCA CTGTTCTCAC AGAGTGTTCA
9750
GCTGGTGGGG AGACAAGAGG AAATACAGAA ACCCACAGAT GAACAAGATA
9800
ATTCAAAAGT GCCATGAAGC CAAGACATGG GTGTGGTGGA GAATGACCGA
9850
GGGGAGCCAC CTCAGATAGG AGGAGTTGA
G
G
C
C
G
G
G
C
A
C
A
G
T
G
G
C
T
C
C
C
A
9900 |
REPEAT
|
NOT SCANNED
C
A
G
C
A
G
T
G
C
G
G
G
A
G
G
C
C
T
A
G
G
A
G
G
G
A
G
G
G
T
C
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
9950
A
G
A
C
C
A
G
A
C
T
G
G
G
C
A
A
T
A
C
A
G
C
A
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
G
A
C
A
A
A
10000
A
A
T
G
A
G
C
C
A
G
G
A
G
T
G
G
T
G
G
C
A
C
A
C
A
C
C
T
G
T
C
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
A
10050
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
G
G
G
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
A
T
C
10100
G
T
G
A
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
A
G
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
A
C
C
T
G
C
C
T
10150
C
A
A
A
A
A
C
A
A
A
T
A
A
A
A
A
G
A
G
G
C
C
A
G
G
C
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
G
T
A
A
T
C
C
C
A
10200 |
REPEAT
G
C
A
T
T
T
T
G
G
G
A
A
G
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
T
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
10250
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
A
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
10300
T
C
A
G
C
T
G
G
G
T
C
T
G
G
T
G
G
C
A
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
G
A
C
T
T
G
G
G
A
G
A
C
T
10350
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
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
10400
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
G
G
A
C
A
G
A
G
T
G
T
G
A
C
T
C
C
A
T
C
T
C
A
10450
A
A
A
A
A
A
A
A
A
G
T
T
A
T
G
T
T
T
A
T
C
C
T
A
T
A
C
T
G
T
A
G
T
C
T
G
T
T
A
A
G
T
G
C
A
C
A
A
T
A
10500 |
REPEAT
G
C
A
T
T
A
T
G
T
C
T
A
G
A
A
A
A
A
A
A
A
A
A
G
T
A
C
A
T
A
C
C
T
T
A
A
T
T
T
T
A
A
A
A
T
C
C
T
G
C
10550
T
A
A
A
A
A
T
G
T
T
G
T
G
A
T
C
A
T
T
T
G
A
G
G
A
C
T
C
A
G
C
A
A
G
T
T
G
G
A
A
C
C
T
T
T
C
T
G
T
T
10600
G
T
G
T
A
G
G
G
C
C
T
T
G
C
C
T
T
G
A
T
G
T
T
G
A
T
G
G
G
C
T
G
C
T
G
A
C
T
G
A
T
C
A
G
G
G
C
G
G
T
10650
T
G
T
C
G
T
T
C
A
A
G
G
T
T
G
A
G
A
T
G
G
C
T
G
C
G
G
C
A
A
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
10700
T
T
C
C
T
T
T
C
C
T
T
T
C
T
T
T
T
C
T
T
C
C
T
C
C
C
T
T
C
C
T
T
C
C
C
T
T
C
C
T
T
C
C
C
T
C
C
C
T
C
10750
C
C
T
T
C
C
T
T
C
C
C
T
T
C
C
C
T
T
C
C
C
T
T
T
T
C
T
T
C
T
C
C
G
T
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
10800
C
T
T
T
C
C
T
C
C
C
T
C
C
C
T
T
C
C
T
C
C
C
T
T
C
C
T
T
C
C
T
T
C
C
T
T
C
T
C
T
T
T
C
T
C
T
C
T
C
T
10850 |
REPEAT
C
T
T
T
T
C
A
A
G
A
C
A
G
G
G
T
C
T
T
G
T
T
C
T
G
T
T
G
C
C
C
A
G
C
T
G
G
A
A
T
G
C
A
G
T
G
G
T
G
C
10900
A
A
T
C
A
T
G
A
C
T
T
A
C
C
A
T
A
A
C
C
T
C
C
A
A
C
T
C
C
T
G
G
G
C
T
T
A
A
G
T
G
A
T
C
C
T
C
C
C
A
10950
T
G
T
T
G
G
T
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
C
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
A
G
T
G
C
C
T
G
G
11000
C
C
A
G
C
A
G
T
A
A
T
A
G
T
T
T
G
A
A
A
A
G
A
A
T
C
T
C
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
C
C
A
C
A
C
T
11050 |
REPEAT
C
T
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
T
G
C
A
A
T
C
T
T
G
G
C
T
T
A
C
T
G
T
T
A
C
C
11100
T
C
C
A
C
C
T
C
G
T
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
G
T
G
T
C
T
C
A
G
C
C
A
C
C
C
A
A
G
T
A
G
C
T
G
11150
A
G
A
T
C
A
C
C
G
G
C
A
T
G
C
G
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
11200
G
A
A
T
C
G
G
G
G
T
T
T
C
G
C
C
A
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
T
C
T
C
11250
A
G
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
C
C
A
C
T
A
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
11300
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
C
T
A
T
G
A
A
G
C
T
T
T
T
T
A
T
T
T
A
A
A
G
T
G
A
A
A
A
A
T
G
T
T
G
A
11350 |
REPEAT
C
T
C
T
T
C
C
T
T
T
C
A
C
T
T
G
A
A
C
A
C
C
T
C
G
A
G
G
C
C
A
T
T
G
T
A
A
G
G
T
T
A
T
G
A
A
C
T
G
A
11400
A
T
T
G
G
C
C
T
G
A
T
T
T
C
A
A
A
A
T
C
A
T
G
T
G
T
C
T
C
A
G
G
G
A
A
T
A
C
G
G
A
G
G
C
T
C
A
A
G
G
11450
A
G
A
T
G
G
G
G
A
G
A
G
A
T
G
A
G
G
G
A
A
T
G
G
C
T
G
G
T
C
A
G
T
G
G
G
G
C
A
G
T
C
C
G
A
G
C
A
C
A
11500
C
A
C
A
T
T
T
A
T
C
C
A
T
T
A
A
G
T
T
C
A
C
C
C
T
T
T
T
A
T
A
T
G
G
G
C
A
A
G
G
T
C
G
G
T
G
G
C
A
C
11550
C
C
C
C
C
A
A
A
A
T
T
A
A
A
A
C
A
G
T
A
A
C
A
T
C
A
G
A
G
A
T
C
A
C
T
G
A
T
C
A
C
G
G
A
T
C
G
C
C
A
11600 |
var(11592):[A:0.21]
T
G
A
C
A
G
A
T
A
T
A
G
T
A
A
T
A
A
T
G
A
G
A
A
A
G
T
C
T
G
C
A
G
T
A
C
T
G
T
G
A
G
A
A
T
T
A
C
C
C
11650 |
var(11610):[C:0.06]
A
C
A
T
G
T
G
A
C
A
C
A
G
A
G
A
C
A
C
G
A
A
G
T
G
G
C
A
C
A
T
G
C
T
G
T
A
G
G
A
A
A
A
A
T
G
G
C
T
C
11700 |
var(11669):[G:0.05]
|
var(11687):[C:0.02]
C
A
A
T
A
G
A
C
C
T
G
C
T
G
G
A
C
A
A
A
G
A
G
T
T
G
C
C
A
C
A
A
A
C
C
T
C
C
A
A
T
T
T
G
T
A
A
A
A
A
11750
A
C
A
C
A
G
T
A
T
C
T
G
C
A
A
A
A
T
G
C
A
A
T
A
A
A
A
C
G
A
G
G
TATGTCTG TATATTATAT
11800
GAATATGTAT AAGATATATA AATATTATAG ATTTATTGTA CATATGCACA
11850
AACACAAATT CATTATACAC ATATTTTATA CATGAATATA CAAATAAACA
11900
CACAA
T
T
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
G
A
C
A
G
A
A
T
C
T
C
A
C
T
C
T
G
T
C
A
C
11950 |
REPEAT
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
A
A
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
12000
T
T
G
G
G
T
T
C
A
A
G
T
G
T
T
T
C
T
C
G
T
G
C
C
T
C
A
G
C
C
T
C
T
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
12050
A
G
G
C
G
T
G
T
G
C
C
A
C
C
A
T
G
G
C
C
G
A
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
G
G
A
G
A
C
G
G
12100
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
C
A
A
A
A
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
12150
C
T
G
C
C
T
G
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
T
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
12200
C
G
C
C
C
A
G
C
C
T ACAATTTTTT TTTTTTTAAA GATTGGGGTC TTGGGCCAGG
12250
CGCCCAAG
T
G
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
C
A
A
A
A
T
T
A
G
C
C
G
G
G
12300 |
REPEAT
C
A
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
G
T
A
C
T
T
G
A
G
A
G
G
C
T
G
A
G
G
C
A
A
G
A
12350
G
A
T
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
A
C
G
G
A
G
G
T
G
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
G
C
C
12400
A
T
T
G
C
G
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
C
G
T
C
T
C
A
T
A
A
A
A
A
A
A
12450
A
A
A
A
A
A
A
A
A
G
A
TG
G
G
G
G
T
C
T
T
G
C
T
A
T
G
T
T
A
C
C
C
A
G
A
C
T
G
G
A
C
T
C
G
A
A
C
T
C
12500 |
REPEAT
C
T
G
G
G
C
T
T
A
A
G
T
G
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
T
A
T
C
T
G
G
A
C
T
A
C
A
12550
G
G
C
T
C
G
T
G
C
C
A
G
T
G
C
A
C
C
T
G
G
C
TACCATTC TACTTTATAA TAATTTTTAC
12600 |
var(12564):[A:0.02]
TAATGGCCTC TCAAAGTCCT GAGACTTCAG CCATCTGTGT TGCCAGCCAT
12650
TAGGAGCAGG CACCAGCACA CTGTGGCC
T
G
C
A
G
G
T
G
G
A
T
T
G
G
A
T
G
T
G
A
G
G
12700 |
REPEAT
G
T
C
C
C
T
C
A
G
G
G
G
A
A
G
A
G
G
T
G
G
G
T
C
T
G
T
T
T
T
C
C
A
G
A
T
T
G
A
G
C
A
C
A
T
G
G
G
G
T
12750
G
G
C
C
A
T
T
C
C
T
G
G
G
G
G
C
C
T
G
G
A
C
A
G
A
T
G
G
C
A
G
G
A
A
C
A
G
A
T
T
T
T
G
G
G
G
A
G
C
C
12800
G
T
C
A
C
A
A
G
T
G
T
G
G
G
T
T
T
A
G
A
C
A
C
A
G
G
G
T
T
C
A
G
G
T
G
C
C
T
T
T
A
G
G
A
C
A
T
C
C
A
12850
G
G
G
G
G
CCAAG GCCCAGGCCC GTTAGGAGCA GCAGCAGGGG
G
AACCCTGGG
12900 |
var(12891):[A:0.41]
CCTCCACACC CTGGTTGAGG TGGGACAGGC TGCTGACCAC TCCCTCGTGT
12950
GTCCCCATAG
C
T
C
T
C
A
A
C
A
G
C
C
T
G
A
C
G
G
G
C
G
A
G
T
T
C
A
A
A
G
G
G
A
A
G
T
A
C
T
A
13000 | Exon 5
A L N S L T G E F K G K Y Y 174
C
C
C
T
C
T
G
A
A
G
A
G
C
A
T
G
A
C
G
G
A
G
A
A
G
G
A
G
C
A
G
C
A
G
C
A
G
C
T
C
A
T
C
G
A
T
G
A
C
C
13050
P L K S M T E K E Q Q Q L I D D 190
A
C
T
T
C
C
T
G
T
T
C
G
A
C
A
A
G
C
C
C
G
T
G
T
C
C
C
C
G
C
T
G
C
T
G
C
T
G
G
C
C
T
C
A
G
G
C
A
T
G
13100
H F L F D K P V S P L L L A S G M 207
G
C
C
C
G
C
G
A
C
T
G
G
C
C
C
G
A
C
G
C
C
C
G
T
G
G
C
A
T
C
T
G
GTGAGGCC CCTCCCCGCC
13150 |
var(13106):[A:0.05]
A R D W P D A R G I W 218
CCCTGGCTTC CTCTTCCCCC AGCCTCCTCC AGTCCTGCAA C
G
GCCCTCCT
13200 |
var(13192):[A:0.06]
CACTCCTCCA CCAAAACCAA GGCCATATAC
A
TAATTATGA TCTTCTAAAT
13250 |
var(13231):[G:0.45]
GCCACGGAAA ATGATCTTGC CCTC
C
GCC
C
C TGCCCATCCT GTGGTCTGTG
13300 |
var(13275):[T:0.03]
|
var(13279):[A:0.43]
TGTCAGATTT TGGGATATCT GGACCGGAGA AGTGGTAGTT AAAAACTTAA
13350
GACTT
G
G
C
G
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
T
G
C
A
C
T
T
T
G
C
G
A
G
13400 |
REPEAT
G
C
C
A
A
G
G
C
G
G
G
G
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
C
A
G
C
C
T
G
G
C
C
13450
A
A
C
A
C
G
G
T
G
T
C
T
A
C
T
A
A
A
A
A
T
G
A
C
A
A
A
A
A
T
T
T
A
G
C
T
G
G
G
C
G
T
A
G
T
G
G
C
A
G
13500
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
A
G
A
T
G
A
T
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
13550 |
NOT SCANNED
A
C
C
C
A
G
G
T
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
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
13600
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
C
A
G
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
C
A
A
A
C
A
A
A
A
A
A
G
A
A
13650
A
G
A
A
C
T
T
A
G
A
C
T
T
G
G
C
C
G
G
G
C
A
C
A
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
13700 |
REPEAT
T
T
T
G
G
G
A
G
G
C
T
G
C
A
G
C
A
G
G
A
G
G
G
T
C
G
C
T
T
G
T
G
C
C
C
A
G
G
A
G
T
T
C
T
A
G
A
C
C
A
13750
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
G
G
A
G
A
C
C
A
C
G
T
C
G
C
T
A
C
A
A
A
A
A
T
T
A
A
A
A
A
A
A
A
A
A
A
13800
A
A
G
C
C
A
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
13850 |
REPEAT
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
A
T
T
G
A
C
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
13900
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
C
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
C
C
13950
G
G
C
G
T
C
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
14000
G
A
G
A
A
T
G
G
C
C
T
G
A
A
C
C
C
A
A
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
T
G
14050
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
14100
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
C
C
A
G
G
C
G
T
G
A
T
G
G
C
G
T
A
T
A
C
C
T
G
T
G
G
T
C
14150 |
REPEAT
C
C
A
G
C
T
A
C
T
C
G
A
G
A
G
G
C
T
G
A
G
G
A
T
C
A
G
C
T
G
G
G
C
C
C
A
G
A
G
G
A
T
T
G
A
G
G
T
T
A
14200 |
var(14170):[T:0.01]
C
T
G
T
G
A
A
T
C
A
T
G
A
C
C
G
A
G
G
T
A
C
T
G
C
A
C
T
C
C
A
G
C
T
A
C
C
T
G
T
C
T
C
A
A
A
A
A
T
A
14250 |
var(14216):[A:0.05]
A
G
A
A
CT
C
A
G
A
C
T
T
G
A
A
C
C
G
T
A
C
T
C
C
C
T
A
G
G
T
T
C
A
A
A
T
C
C
C
A
G
C
T
C
T
A
C
C
A
14300 |
REPEAT
T
T
T
A
C
T
A
G
A
T
T
T
A
C
T
A
G
C
T
T
T
G
T
G
A
C
C
T
T
G
G
G
C
A
A
C
T
T
A
T
T
T
T
A
T
T
T
T
T
C
14350
T
C
T
A
C
C
C
C
A
G
T
T
T
C
C
T
A
G
C
T
A
T
A
G
G
A
T
A
G
G
G
A
T
C
A
C
A
A
T
A
A
T
T
T
G
T
A
G
T
T
14400
T
C
T
G
G
T
G
T
T
C
T
T
G
T
G
A
G
G
A
T
T
A
A
A
T
G
A
G
T
T
A
A
T
T
T
A
T
G
T
A
A
A
G
T
A
T
T
A
A
A
14450
A
G
C
A
G
T
G
C
C
T
G
G
G
C
C
A
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
14500 |
REPEAT
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
14550 |
var(14509):[T:0.03]
|
var(14510):[G:0.03]
G
G
C
T
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
G
14600
G
G
C
T
T
G
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
G
T
C
C
T
A
C
T
T
A
C
T
C
G
T
G
A
G
G
C
T
G
A
G
G
C
A
G
14650
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
C
T
T
G
A
A
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
A
14700
T
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
C
C
A
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
14750
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
C
A
G
T
G
C
C
T
G
G
T
A
T
A
C
A
C
T
A
A
G
T
G
T
T
C
A
G
T
A
C
A
T
C
T
14800 |
REPEAT
T
G
G
T
T
A
T
T
CG TCTTATCTTT ATTATAAAGT ATTATTGCTA GACTTGTTTT
14850
GACTCTTTGA ATCCCTGATT CAGATAGTCA AAGATTTAGA GAACCTAGGT
14900
TTCAATCGAT GAAGGGAGCC TGGGTGCTAA GATATACAGA TGGGATGATT
14950
CTAAGATTTC AAGATTTTAA ATATTTTTAG GTTTTAAGAT TCCACTC
A
T
T
15000 |
REPEAT
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
G
A
G
A
T
G
G
A
C
T
C
T
C
A
C
T
C
T
G
A
G
G
C
C
C
A
G
G
C
T
G
G
15050
A
G
T
G
C
A
G
T
G
G
G
T
T
G
A
T
C
T
C
G
A
C
T
C
A
C
T
G
A
A
A
C
C
T
C
C
A
T
C
T
C
C
C
G
G
G
T
T
C
A
15100
A
A
C
G
A
T
C
C
T
C
T
C
A
C
C
C
T
C
C
G
C
C
T
C
C
T
T
A
G
T
A
G
C
T
A
G
G
A
C
G
A
C
A
G
G
C
A
T
G
T
15150
G
C
C
A
C
T
G
T
G
C
C
C
A
G
C
T
A
G
T
T
T
T
C
G
T
A
T
T
T
T
T
G
G
T
A
G
A
G
A
C
A
G
C
G
T
T
C
T
G
C
15200
C
A
T
G
T
T
G
C
T
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
T
T
C
A
C
C
T
T
A
A
G
T
G
A
T
C
C
G
C
C
C
A
C
15250
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
C
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
T
G
C
C
15300
C
TCAGG
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
15350 |
REPEAT
|
NOT SCANNED
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
G
G
A
T
C
A
T
A
G
C
T
C
G
C
T
G
C
A
G
C
C
T
G
G
A
C
C
T
T
C
C
15400
A
A
G
G
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
T
G
G
C
T
T
G
G
A
C
T
A
C
A
G
15450
G
C
A
T
G
T
G
T
C
C
C
A
C
C
A
T
G
C
C
T
G
C
T
A
A
T
T
T
T
T
T
A
A
A
T
T
T
T
G
T
A
G
A
T
A
T
G
T
G
G
15500
G
T
C
T
T
G
C
C
A
T
G
T
T
G
C
C
C
A
G
G
G
T
A
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
15550
C
T
C
C
G
G
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
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
C
15600
A
C
C
C
G
G
C
C
A
T
T
T
C
C
G
G
A
T
C
T
T
A
A
T
A
T
T
T
T
A
T
G
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
15650 |
REPEAT
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
15700
T
C
T
C
G
A
C
T
C
A
C
T
G
C
A
A
G
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
C
T
C
G
C
C
A
T
T
C
T
C
T
T
G
C
C
15750
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
A
T
G
C
C
C
G
C
C
A
C
C
A
T
G
C
C
C
A
G
A
T
15800 |
var(15785):[A:0.18]
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
G
A
C
G
T
G
T
T
A
G
C
C
A
G
G
A
15850
T
G
G
T
G
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
C
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
15900
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
A
G
C
C
TTAAT ATTTTATGTT
15950
CTAAGATCCT GCTTCTGAGA TGCTAGGATT GGGAGCTAAC ACACTACGAT
16000
G
GGAAGATTT TCTGGTCCTG AAACCAGATG TAGGATT
T
CC AAGTGTTATC
16050 |
var(16001):[A:0.01]
|
var(16038):[A:0.02]
AGTTCTGATC CCAAGCTTCT GTTTGTC
A
AA CATCCTGAGA TCCCAAGGAT
16100 |
var(16078):[:0.01]
CTATAATAAT ACTGTTCAAA GACTTAAGTC CCTAAAAGTC CTTGATCCCA
16150
GGATTCAGCG TTTTGCAGAT CCTGTGACAT TAGAGTCTAC AGGTTTAAGC
16200
TTCTGCGTTT TGAGGAGGCA GATGCCACCC ACCTCCCACC CCTCAGGCCC
16250
TCTTCCCCCA TCGGTGGGCA GATGTTTTGG GGGAGGGCTG GGAATGGGGT
16300
TCCCACGGGG CTGACACCTT GGCCTCTTGC TGCGGCACCT TACTCTAG
G
C
16350 | Exon 6
218
A
C
A
A
T
G
A
C
A
A
C
A
A
G
A
G
C
T
T
C
C
T
G
G
T
G
T
G
G
G
T
G
A
A
C
G
A
G
G
A
G
G
A
T
C
A
C
C
T
C
16400
H N D N K S F L V W V N E E D H L 235
C
G
G
G
T
C
A
T
C
T
C
C
A
T
G
G
A
G
A
A
G
G
G
G
G
G
C
A
A
C
A
T
G
A
A
G
G
A
G
G
T
T
T
T
C
C
G
C
C
G
16450 |
var(16423):[C:0.01]
R V I S M E K G G N M K E V F R R 252
C
T
T
C
T
G
C
G
T
A
G
G
G
C
T
G
C
A
G
A
A
G
GTGGGTGT CTGCCCTTAG CTGCTGACTT
16500
F C V G L Q K 259
CTGACTCCAC CTTGAACGCC CCACCTGCTT TCCGAGGCCC CGCCCCTTCC
16550
CCTATACTAA GCCCTGCCCC ACCCATTTTC CAGGGCCCTG CCCCCCGGAC
16600
CTGGCTCCAC CCCATGCCAA ACCCCGCCCC C
C
AAAACTAG CCCCACCCGC
16650 |
var(16632):[:0.16]
TTTTCAGGGC CCCGCCCCTG GACCCAGCTC CACCCTATGC CCAAGCCCCG
16700
CCCGTAAGGA TCCGCCTTCA
G
G
C
C
G
G
G
A
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
16750 |
REPEAT
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
A
G
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
16800
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
T
A
C
T
A
A
A
A
A
A
T
T
A
A
T
A
A
A
T
A
A
A
T
A
A
A
16850 |
var(16834):[C:0.01]
T
T
A
T
C
C
A
G
G
C
G
T
A
G
T
G
G
C
G
C
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
16900
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
G
G
T
T
G
C
A
G
T
G
A
G
A
C
G
A
16950
G
A
T
C
A
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
C
A
G
A
G
A
G
A
C
T
C
T
G
G
A
A
A
A
17000
A
A
A
A
A
A
A
A
A
A
A
A
A
A
CCCGCC TTCAAAGCGT TCTTAGTCCC CGCCCCTCAA
17050
AATCCTGCCT TGGTCCCCAT TGTCTAGCCA GCACCCTCGG AATCTCCTAC
17100
CTCCCTGTTC CCCTCAGAAT CCCACCTCCA CCACGTTCCC ACGCCCTGTC
17150
CCTCCGGACC CTGTCCATGT TGCGGGTGCA TTTGGGGGTG CCTGCCGGCG
17200
CTGACCCCTG GTCCTCTCTC TGAACCTCAG
A
T
T
G
A
G
G
A
G
A
T
C
T
T
T
A
A
G
A
A
17250 | Exon 7
I E E I F K K 266
A
G
C
T
G
G
C
C
A
C
C
C
C
T
T
C
A
T
G
T
G
G
A
A
C
C
A
G
C
A
C
C
T
G
G
G
C
T
A
C
G
T
G
C
T
C
A
C
C
T
17300
A G H P F M W N Q H L G Y V L T 282
G
C
C
C
A
T
C
C
A
A
C
C
T
G
G
G
C
A
C
T
G
G
G
C
T
G
C
G
T
G
G
A
G
G
C
G
T
G
C
A
T
G
T
G
A
A
G
C
T
G
17350
C P S N L G T G L R G G V H V K L 299
G
C
G
C
A
C
C
T
G
A
G
C
A
A
G
C
A
C
C
C
C
A
A
G
T
T
C
G
A
G
G
A
G
A
T
C
C
T
C
A
C
C
C
G
C
C
T
G
C
G
17400
A H L S K H P K F E E I L T R L R 316
T
C
T
G
C
A
G
A
A
G
A
G
G
G
G
T
A
C
A
G
GTACGGCTCC CACATCCTTT GCACCACGAC
17450
L Q K R G T 322
GGAGGGGGAG CGAGGGCCCT TTGCAGGGAT GCAAGGAGAG GTGCGACATC
17500
CCTGCGAGTT CTGGGGATCC
G
G
C
A
A
G
G
G
C
T
G
A
C
C
C
T
C
T
G
T
G
A
G
C
T
T
G
C
A
T
17550 |
REPEAT
T
T
C
T
T
C
C
T
C
T
G
T
A
A
A
A
T
G
G
G
T
G
T
C
A
A
T
A
T
G
C
C
T
A
T
G
T
G
A
T
A
G
G
A
G
T
C
A
A
T
17600
G
T
G
G
G
A
T
T
T
T
C
A
T
G
A
T
T
A
T
A
T
A
A
T
A
T
G
C
A
T
T
G
C
A
C
A
T
G
C
C
C
T
T
G
G
A
C
C
T
C
17650 |
REPEAT
C
C
T
C
G
G
G
G
C
C
T
C
A
G
T
T
T
C
C
C
C
A
T
T
T
A
T
A
A
A
G
C
G
A
G
G
A
G
T
G
G
T
C
A
G
G
A
T
T
C
17700 |
REPEAT
G
A
C
C
C
T
A
G
G
C
C
G
C
C
T
G
G
C
T
C
C
A
G
A
A
C
C
C
A
C
T
C
T
C
T
T
A
C
C
C
A
C
T
A
T
A
C
T
A
T
17750
G
T
T
TGATAAC TGAGTGGCGT GGTACCCCAT CTGAAGTCAG AGACTCGTGA
17800
GCTCACGAAT GAACAGGCAT TACCTGTGTG CAGGTAACCT GTTACACAGT
17850
AGGCACTCAC TACATGCGGC TGTTGCATTT GGCACGGGGG CCACGTCCCA
17900
GCCCCTCTGC ACCTTCGCTG CCTCTTCACG CCCCTGTCCC TTGCTCCCAC
17950
AG
G
T
G
G
C
G
T
G
G
A
C
A
C
A
G
C
T
G
C
C
G
T
G
G
G
C
T
C
A
G
T
A
T
T
T
G
A
C
G
T
G
T
C
C
A
A
C
G
18000 | Exon 8
G G V D T A A V G S V F D V S N 338
C
T
G
A
T
C
G
G
C
T
G
G
G
C
T
C
G
T
C
C
G
A
A
G
T
A
G
A
A
C
A
G
G
T
G
C
A
G
C
T
G
G
T
G
G
T
G
G
A
T
18050
A D R L G S S E V E Q V Q L V V D 355
G
G
T
G
T
G
A
A
G
C
T
C
A
T
G
G
T
G
G
A
A
A
T
G
G
A
G
A
A
G
A
A
G
T
T
G
G
A
G
A
A
A
G
G
C
C
A
G
T
C
18100
G V K L M V E M E K K L E K G Q S 372
C
A
T
C
G
A
C
G
A
C
A
T
G
A
T
C
C
C
C
G
C
C
C
A
G
A
A
G
T
A
G
G
C
G
C
C
T
G
C
C
C
A
C
C
T
G
C
C
A
C
18150 |
var(18104):[T:0.29]
|
UTR
I D D M I P A Q K 381
C
G
A
C
T
G
C
T
G
G
A
A
C
C
C
A
G
C
C
A
G
T
G
G
G
A
G
G
G
C
C
T
G
G
C
C
C
A
C
C
A
G
A
G
T
C
C
T
G
C
18200
T
C
C
C
T
C
A
C
T
C
C
T
C
G
C
C
C
C
G
C
C
C
C
C
T
G
T
C
C
C
A
G
A
G
T
C
C
C
A
C
C
T
G
G
G
G
G
C
T
C
18250
T
C
T
C
C
A
C
C
C
T
T
C
T
C
A
G
A
G
T
T
C
C
A
G
T
T
T
C
A
A
C
C
A
G
A
G
T
T
C
C
A
A
C
C
A
A
T
G
G
G
18300 |
var(18253):[C:0.01]
C
T
C
C
A
T
C
C
T
C
T
G
G
A
T
T
C
T
G
G
C
C
A
A
T
G
A
A
A
T
A
T
C
T
C
C
C
T
G
G
C
A
G
G
G
T
C
C
T
C
18350
T
T
C
T
T
T
T
C
C
C
A
G
A
G
C
T
C
C
A
C
C
C
C
A
A
C
C
A
G
G
A
G
C
T
C
T
A
G
T
T
A
A
T
G
G
A
G
A
G
C
18400 |
var(18389):[C:0.07]
T
C
C
C
A
G
C
A
C
A
C
T
C
G
G
A
G
C
T
T
G
T
G
C
T
T
T
G
T
C
T
C
C
A
C
G
C
A
A
A
G
C
G
A
T
A
A
A
T
A
18450
A
A
A
G
C
A
T
T
G
G
T
G
G
C
C
T
T
A
GC TTTGTGCGAT AGTTATTGAG GGAGGACGTG
18500
CAATTGGCCA CTGTGTGGTC TCAGAGTGGT TTGTCCTGTC TAGGCATGTA
18550
CTAAACATGT CTTATCCCGG GTCTAAAATG AGGCAAAGTT AGGTCACAGA
18600
ATCTAGTCCA AAAATTAGAA GGCTCTATGG GGAATCTGAG ACCCAGAGAG
18650
ACACTGAGCC CAGTGTCACT CACCCAAAGC ATGGGCCCTT TCCAACTATG
18700
GCTTTGAATT AGTCATGCTC AGATCTCAAA CACGAGGTCC ACGCTGGGGA
18750
GGAATGCAGC CAAACGAAAT GTCTGAAACT TGAATTTAGC CCAA
C
GGTCT
18800 |
var(18795):[T:0.03]
CCAGTTTTGA GACCTCCCAT GCAGCTCGTC ACATCTACCT ATATTCTGCT
18850
TCTCAGTGGC CTCCTTCTGT CCC
G
TCTGAC TTCATCCCTC TGTAGCTGCT
18900 |
var(18874):[A:0.01]
GCCAGTCCCT TACTTTCTCA AGAACCTGCC
A
TGGCTCCCC ATTTCTCCTA
18950 |
var(18931):[G:0.45]
GAAAGCTTTT CTGTTATTTT GCAACTCAAG GCCACACTGA AATGCATACC
19000
ATTTGCTGGA GGCTCACCTT TCCAGTTCTT TCCCCATTAC TCCTCTGATT
19050
CTTTCACACC TGACACCCTC CAATTCCCAC CTCAATGTCT TTGACCAAGC
19100
TGTTTCCCTC T
C
CAATCTGT GAGTCTGAGC ATCCCCATGA AGTCTTTAGG
19150 |
var(19112):[T:0.02]
GATAGGCCTT TTGGAGAACT CAGTCCCAGG AAGGAACAGG AAAGAGGTGT
19200
GGTAGAGCAA TTGGTGGAGG GAGAAGAGTT AATAGAAGTC AAGCAGTAGC
19250
TGAACATGCA TTGGGTGTTG GGCACGTCAA TCACCTCCAC CCAGTCAAAC
19300
AGGCCAATGT CTACGTTAAC AAGGACACAG TCGGTGGGCC CCAAA
A
GACA
19350 |
var(19346):[G:0.06]
AACGTTTTAG GGAAAAAAAA AAGTGAGGTG GGAGTAAATG GAAGAACCGA
19400
CAAAGCCCTC AGGAACCTAA GGTGCTTTTT CAAACCTCA
A
G
A
G
T
C
A
C
A
G
A
19450 |
REPEAT
G
A
T
T
A
A
G
G
G
C
C
C
T
T
G
T
A
G
T
T
C
A
A
T
C
T
G
C
C
C
T
C
T
G
T
T
T
T
A
C
A
G
A
G
G
G
G
A
A
A
19500
T
T
G
A
G
G
C
C
T
A
G
G
G
A
T
G
T
CCC CAAAAGTTCC CAGGGAGATT ACTACAAGGA
19550 |
var(19501):[C:0.01]
AGGTTAGGAG AGATTCTAAA CATTAAGGTA TGCAGAACCT GTGAGATGCT
19600
GTGATGTTCT TTACTGTACT GTCCCCAGTT GAAGATCCCA GCTCCACACC
19650
CAGAGGCTAC ATAGACCACA CACGCCAGTG GGGACCTTCT GAGCCAGCCA
19700
AAGCCACAGT CCAGACACCT GTTACCAGGT CCTGCCCACT TTGCCTCACA
19750
GGACTCTCTT AAATCTATCT GCGCTCTCCC CATCTGTCCA GCCCCGACCT
19800
CTTTCCTGAT CTTCTGACCT GTCAACTTCC CTCCCTTCCA CCCTGCACAT
19850
AGCACAAACC CGCCCATCTC TACCCTACCT ACAACCTTGC CATGGCTCCC
19900
CCAGTGCCCT TGGAAGAAAG CCCAGGCCCC TGTCCATAAC CTTCAAGGCC
19950
CTACTGACGC CCCTAGCCCC ATACCTCACA GCAATTCTAC ACTTAC
C
AAG
20000 |
var(19997):[A:0.27]
TCACATGCCA TTTGTTGAGG ACCTGTC
C
T
C
T
C
T
C
T
T
G
C
T
C
C
C
T
G
G
C
C
C
T
T
20050 |
REPEAT
G
T
A
T
G
T
G
C
C
A
T
T
T
G
C
T
G
T
G
C
C
T
A
A
A
A
C
G
C
A
C
T
C
C
T
A
T
C
C
A
T
G
T
C
T
A
G
C
T
G
20100
G
C
T
C
C
T
T
C
T
C
C
T
C
C
A
G
G
A
A
G
C
C
C
T
C
C
C
T
G
G
C
T
G
A
G
G
C
A
G
G
C
A
T
C
A
C
C
T
C
T
20150
G
G
A
C
T
C
C
C
C
T
A
T
A
C
C
A
G
C
C
C
T
G
C
C
C
A
G
T
C
G
C
T
G
C
C
T
G
A
G
G
A
C
A
C
A
T
C
T
G
C
20200 |
var(20194):[T:0.16]
C
T
C
C
T
C
C
A
T
T
G
G
A
C
T
G
T
G
A
G
C
T
C
T
A
T
G
A
G
G
G
C
A
G
T
G
T
T
G
G
G
G
C
T
G
T
C
T
T
G
20250 |
var(20208):[G:0.40]
A
T
T
A
C
C
A
C
T
G
T
G
T
C
C
C
C
A
G
C
A
C
AGAGGATG CTCTCAGGAA TTGACCAAGC
20300
CTCTTCCCTG AAGTTCCCTG AACTTCCATG GTTCCCCAGT GCCATGGGGA
20350
GAAAGTCCAG CTTATTCATT TTGGCCCCAA AGGTGCTGTG TGAATAAGCT
20400
CCGCCCTTCT GTACTGCACA GACTTCAACC ACTATAATCT GTCCAGCTCC
20450
CATG