PRKR 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
TAC
C
G
T
C
A
C
T
T
C
C
T
C
T
G
G
G
A
C
A
T
A
T
T
T
A
T
C
T
T
T
A
T
T
G
C
A
A
T
C
A
C
T
T
T
T
C
T
50 |
REPEAT
T
A
T
T
T
G
T
G
T
T
G
A
T
A
A
G
T
T
T
G
C
C
T
T
C
A
C
T
A
A
G
C
T
C
C
T
A
T
G
A
A
T
G
C
A
C
A
G
C
A
100
G
G
A
A
G
A
A
C
A
T
T
C
C
C
A
T
G
A
T
C
A
G
T
G
A
C
T
T
C
T
T
C
T
A
C
A
A
A
T
C
C
A
T
T
T
A
T
G
T
T
150
T
G
A
T
T
C
A
A
A
T
T
T
C
A
C
T
T
C
C
A
G
T
G
T
T
A
T
C
A
T
T
T
T
T
C
G
T
T
G
C
T
T
T
G
T
T
G
G
A
C
200
T
T
T
C
A
T
C
T
T
T
G
T
T
G
G
C
C
A
G
T
T
C
T
T
T
C
G
A
T
T
G
T
T
C
A
C
T
T
C
T
A
T
A
A
A
A
T
G
T
C
250
A
G
G
T
G
G
A
G
G
A
C
A
A
A
G
A
G
A
C
A
G
T
G
T
A
A
C
T
A
C
G
T
G
C
T
C
T
G
C
T
G
T
G
A
G
T
G
A
A
C
300
T
G
A
T
T
A
A
C
A
G
A
T
G
C
A
C
A
G
G
G
A
C
C
A
A
C
C
A
C
T
G
G
A
A
G
A
A
T
T
T
G
A
A
A
C
A
A
G
T
A
350
A
C
A
C
G
A
C
T
G
G
T
C
A
C
T
G
A
T
C
A
T
G
A
A
G
C
A
T
A
T
C
T
G
T
T
A
T
T
T
A
C
A
T
C
G
T
G
A
T
T
400 |
var(374):[G:0.01]
T
G
T
A
G
A
C
T
G
A
A
G
A
A
C
T
A
G
C
A
G
A
G
A
A
G
T
T
T
G
T
A
C
T
T
C
C
T
G
T
A
A
T
T
A
C
T
C
A
G
450
A
G
T
T
A
T
A
C
T
G
T
G
C
T
A
C
C
T
A
A
A
A
T
T
T
T
A
A
C
C
T
A
G
G
T
T
T
A
A
A
C
A
A
C
A
C
C
A
G
T
500 |
var(463):[T:0.03]
T
T
C
C
T
T
A
C
C
A
G
T
T
T
C
C
T
T
T
C
C
T
T
C
C
T
G
G
T
A
A
G
G
A
A
A
C
T
G
G
T
A
T
T
T
A
A
A
C
T
550 |
var(519):[C:0.01]
A
A
A
T
C
T
A
G
G
T
C
A
C
T
G
A
A
A
T
T
T
G
T
G
C
C
C
A
T
G
G
G
A
A
C
C
G
T
G
C
A
C
A
T
T
G
A
G
G
A
600 |
var(577):[-:0.45]
C
C
T
G
C
C
T
ACA CCCTACATGT TTATATTGGT CCAGGCAGGC TTAATGCTGA
650 |
var(605):[T:0.01]
CTACTGAGAA ATAGGCTATC TGAATTTATA TCAAATAGTG AATCTTAAAG
700
CACCCAAG
A
T GAAAAATTCG TGCACATTGA GGTGCTTTTA AAATCTTTGT
750 |
var(709):[G:0.01]
CATTTGACAA TCAAGCTTAA AATGTATCTT AGAGTAACCG AATTTTAGAA
800
ATAAAGACCT TTAAAGGCCC CATAGTTTGA TACCACAGAT TATCCAGCAT
850
GTTTATAATG AATTATTTCT CCTCCTTCAA TTT
C
A
G
T
T
T
G
C
T
C
A
T
A
C
T
T
T
900 | Exon 1 |
UTR
G
T
G
A
C
T
T
G
C
G
G
T
C
A
C
A
G
T
G
G
C
A
T
T
C
A
G
C
T
C
C
A
C
A
C
T
T
G
G
T
A
G
A
A
C
C
A
C
A
G
950
G
C
A
C
G
A
C
A
A
G
C
A
T
A
G
A
A
A
C
A
T
C
C
T
A
A
A
C
A
A
T
C
T
T
C
A
T
C
G
A
G
G
C
A
T
C
G
A
G
G
1000 |
var(973):[G:0.06]
|
var(996):[T:0.37]
T
C
C
A
T
C
C
C
A
A
T
A
A
A
A
A
T
C
A
G
G
A
G
A
C
C
C
T
G
G
C
T
A
T
C
A
T
A
G
A
C
C
T
T
A
G
T
C
T
T
1050 |
var(1010):[C:0.01]
|
var(1040):[G:0.03]
C
G
C
T
G
G
T
A
T
C
A
C
T
C
G
T
C
T
G
T
C
T
G
A
A
C
C
A
G
C
G
G
T
T
G
C
A
T
T
T
T
T
T
T
A
A
G
C
C
T
1100
T
C
T
T
T
T
T
T
C
T
C
T
T
T
T
A
C
C
A
G
T
T
T
C
T
G
G
A
G
C
A
A
A
T
T
C
A
G
T
T
T
G
C
C
T
T
C
C
T
G
1150
G
A
T
T
T
G
T
A
A
A
T
T
G
T
A
A
T
G
A
C
C
T
C
A
A
A
A
C
T
T
T
A
G
C
A
G
T
T
C
T
T
C
C
A
T
C
T
G
A
C
1200
T
C
A
G
G
T
T
T
G
C
T
T
C
T
C
T
G
G
C
G
G
T
C
T
T
C
A
G
A
A
T
C
A
A
C
A
T
C
C
A
C
A
C
T
T
C
C
G
T
G
1250
A
T
T
A
T
C
T
G
C
G
T
G
C
A
T
T
T
T
G
G
A
C
A
A
A
G
C
T
T
C
C
A
A
C
C
A
G
GTA CAAGCGGTCT
1300
TCCGAATTTT GCACTCAGAA AAGTG
G
CATC ATCTAAGTCA ATTACATGCA
1350 |
var(1326):[A:0.01]
AATT
C
TGGGG GGCTAGTTTT TTGTGTATGT TAAATGGGTC ACAACACGAC
1400 |
var(1355):[T:0.48]
TTCTGTAAAT CCTCAAATCT GTCAATATAA ATTTTTATGT GATGAAAGCA
1450
AATTGTATTG TTCCTAGAAA GTGTCCTTCC AGTTCTAAGT TGAAGTAAAA
1500
GCATGTCATT TGATGACAAT TCTTGCAACA TCTTAAAACC TGTGTGACAA
1550
GTATAGTAGG TTTTATGGCA CTCATTTGTA GTACGAAGCT GGACTGCAAC
1600
TATCGATCCA TCATTGTTGA TTCTAGCATA TTTTCCTTGT TTTATTTTGT
1650
CTAGAGATCT AGGTCACGGG CTGATCACCC TTAGCTTGAG CTCTCCTCCG
1700
CCTGGCTTC
C
GGCAGGATCC ACGTCCACAC AGGCACACTT GCCTGC
C
CGT
1750 |
var(1710):[T:0.01]
|
var(1747):[A:0.03]
TCATTTCCCA GCCTGTCCCC ATGCTACCAC TCCACTTCAC TTATTATAT
A
1800 |
var(1800):[G:0.03]
TACTCTAAAT CTTTTTCTTC TCAACATAAA ACATTCTACA ATCCTGCAGC
1850
CTTTTTACTT TTTTAAGCAG GTAGGCAAAC ATGTAGTTGA TACTCAGTGG
1900
AAGCACAGAG CAGAGTTAAA GAGAAGGACC CCCTTTCACT GACCAGTTGA
1950
GTTTTTTTTC TTTCCTTT
A
T TTTTTAAAAC AATTTCAAAA TT
G
A
G
A
T
G
G
G
2000 |
var(1969):[G:0.02]
|
REPEAT
G
T
T
T
C
G
C
C
A
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
G
C
T
C
A
G
G
T
G
A
T
C
2050
C
G
C
C
C
A
C
C
T
T
G
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
CAAGT
2100
TGAGTTTTTA AAGTAGAAAA TTTTGGAGAA ATTAACTTTA TTGTGCAGTG
2150
AATGAGAAAG AAAGAAC
G
GT TTTGAAAGAA AGTCTCTGCA TTTATGTGAG
2200 |
var(2168):[A:0.01]
ACTGAGATGA GTCCTATAAA GGGGAGTCTC CCCAACCCCT CTGTCTCCTA
2250
AACTGCATTG GGAAACTCAG ATTAAATATG TTCTGTGAGC ATCACTCATT
2300
CAAATGTCTC TTCCATTGTA G
G
A
T
A
C
G
G
G
A
A
G
A
A
G
A
A
A
T
G
G
C
T
G
G
T
G
A
T
C
2350 | Exon 2 |
UTR
M A G D 4
T
T
T
C
A
G
C
A
G
G
T
T
T
C
T
T
C
A
T
G
G
A
G
G
A
A
C
T
T
A
A
T
A
C
A
T
A
C
C
G
T
C
A
G
A
A
G
C
A
G
2400
L S A G F F M E E L N T Y R Q K Q 21
G
G
A
G
T
A
G
T
A
C
T
T
A
A
A
T
A
T
C
A
A
G
A
A
C
T
G
C
C
T
A
A
T
T
C
A
G
G
A
C
C
T
C
C
A
C
A
T
G
A
2450
G V V L K Y Q E L P N S G P P H D 38
T
A
G
G
A
G
GTAG GTTGCTATAA AAAATGATAT G
G
C
A
G
C
C
A
T
A
A
A
A
A
A
T
G
A
T
G
2500 |
REPEAT
R R 40
A
G
T
T
C
A
T
G
T
C
C
T
T
T
G
T
A
G
G
G
A
C
A
T
G
G
A
T
G
A
A
G
C
T
G
G
A
A
A
C
C
A
T
T
A
T
T
C
T
C
2550 |
var(2515):[A:0.03]
|
var(2518):[A:0.02]
A
G
C
A
A
A
C
T
A
T
C
G
C
A
A
G
G
A
C
A
A
A
A
A
A
A
A
C
C
A
A
A
C
A
C
C
G
C
A
T
G
T
T
C
T
C
A
C
T
C
2600 |
var(2577):[-:0.99]
|
var(2587):[A:0.03]
A
T
A
G
G
T
G
A
G
A
A
C
T
G
A
G
C
A
A
T
G
A
G
A
A
C
A
C
A
T
G
G
A
C
A
C
A
G
G
A
A
G
G
G
G
A
A
C
A
T
2650
C
A
C
A
C
A
C
C
A
G
G
G
A
C
T
G
T
T
G
T
G
G
G
G
T
G
G
G
G
G
G
A
G
G
G
G
G
G
A
G
G
G
A
T
A
G
C
A
T
T
2700 |
var(2683):[-:0.01]
A
G
G
A
G
A
T
A
T
A
C
C
T
A
A
T
G
C
T
A
A
A
T
G
A
C
G
A
G
T
T
A
A
T
G
G
G
T
G
C
A
G
C
A
C
A
C
C
A
A
2750
C
A
T
G
G
C
A
C
A
T
G
T
A
T
A
C
A
T
A
T
G
T
A
A
C
C
T
G
C
A
C
G
T
T
G
T
G
C
A
C
A
T
G
T
A
C
C
C
T
A
2800
A
A
A
C
T
T
A
A
A
G
T
A
T
A
A
T
A
A
T
A
A
T
A
A
A
A
TT
A
A AAAAAAAAGA AAAAAGATAT
2850 |
var(2829):[T:0.03]
GACCTTATAA ATGTAAGCTG GGGGAATGGC AACTCTGGCA CAACTTTGAG
2900
GTCAACACTT TAGTTTTGTG AGAGTGCTCT TGGCATAAAG TGG
G
AACCAT
2950 |
var(2944):[T:0.03]
GGTGGAGCCA CAGTTGACTC CAGAGAGAAA AGAGGGTAGA AACCTTTCCA
3000
TGCTTCAACA AGACATGCTG CTTTACTGTT TGAGGTGACT GCTTAAATGC
3050
TATATTGAAT GTAGGTTCAA ACCCTCAAAG GTAGTCATAG GAGGTAGTGA
3100
TGACTAGAGT ACTTGTTTTT AGATAGTGCA TGAGTTGTAT AATATTTTAT
3150
GAATATTCTC TTTGTAATCA G
G
T
T
T
A
C
A
T
T
T
C
A
A
G
T
T
A
T
A
A
T
A
G
A
T
G
G
A
A
3200 | Exon 3
F T F Q V I I D G 49
G
A
G
A
A
T
T
T
C
C
A
G
A
A
G
G
T
G
A
A
G
G
T
A
G
A
T
C
A
A
A
G
A
A
G
G
A
A
G
C
A
A
A
A
A
A
T
G
C
C
3250
R E F P E G E G R S K K E A K N A 66
G
C
A
G
C
C
A
A
A
T
T
A
G
C
T
G
T
T
G
A
G
A
T
A
C
T
T
A
A
T
A
A
G
G
A
A
A
A
G
A
A
G
GTGAGTGA
3300
A A K L A V E I L N K E K K 80
TTGCC
A
TTTT TTCCTAATAA ATGGGAACTT GCAAATACAT TTTCTGTTT
C
3350 |
var(3306):[-:0.03]
|
var(3350):[T:0.01]
TCTCTGTGAG AAAATACTTT CATACAGAGT AAAGCCATTC A
C
ACGTTCCC
3400 |
var(3392):[G:0.03]
TTACATTCAA GAGTTTGGTT AAGTCATTCA CCCTATCTTC ATTTCTATGA
3450
AACCCTGAGT GAGAGCCAC
A
CCTAGGACAC CATGGGCAAA GCTGGATAAT
3500 |
var(3470):[G:0.03]
AGTTATTTAG AGTGTCAGCA GCAGTTAAAT ACTCTAAAGT TGAACAAATA
3550
TGGAAAGGTG AGAAGTGTTC AGTGGGAAAT GAGCTGACAG GTTCTGGGAG
3600
GAGTCCCCTC CACCTAAATG AGGAAGTACA GTAAAAAAGG AAAAAGAGAT
3650
GAAAGTGATT GTAGGGAGAA TAATGTA
C
A
G
T
G
G
T
C
A
C
T
C
A
C
T
C
T
C
T
G
T
G
G
3700 |
REPEAT
G
G
A
A
T
T
G
G
T
A
C
C
A
G
G
A
C
T
C
C
C
T
G
T
G
G
A
T
G
C
C
A
A
A
A
T
T
C
A
C
T
G
A
T
G
C
T
C
A
A
3750
G
T
C
C
T
T
T
A
T
A
T
A
A
A
A
T
G
G
C
A
T
A
G
T
A
T
T
T
A
C
A
T
A
T
A
A
C
C
T
A
T
T
T
A
C
A
T
C
T
T
3800
C
C
C
A
T
A
T
A
C
A
G
T
T
A
T
G
C
A
T
T
G
C
T
T
A
A
C
A
A
G
G
A
G
A
A
T
A
C
A
T
T
G
T
G
A
G
A
A
A
T
3850 |
REPEAT
G
C
A
C
C
T
T
T
G
G
G
C
A
A
T
T
T
C
C
T
C
A
T
T
G
G
G
C
A
A
A
C
A
T
C
A
T
A
G
A
G
G
T
A
C
T
T
A
C
A
3900 |
var(3873):[C:0.03]
C
A
A
T
C
C
T
G
A
A
T
G
G
T
A
C
A
A
C
C
A
G
T
A
C
A
C
A
C
C
T
A
G
G
C
T
G
T
G
T
A
G
T
A
T
A
G
C
T
T
3950
A
T
T
G
C
T
C
C
T
A
G
A
C
T
A
C
G
A
A
C
C
T
A
T
A
C
A
G
C
A
T
A
T
T
A
T
T
G
T
A
C
T
G
A
A
T
A
C
T
G
4000 |
NOT SCANNED
T
A
G
C
C
A
A
T
T
G
T
A
A
C
A
C
A
A
T
G
T
T
T
A
G
T
A
T
T
C
A
T
G
T
A
T
C
T
A
A
A
C
A
T
A
T
C
T
A
A
4050
A
C
A
C
A
G
A
A
A
A
A
G
T
A
C
G
G
T
A
A
A
A
A
T
A
C
A
G
T
A
T
A
A
A
A
G
A
C
A
A
A
A
G
G
C
T
G
G
G
C
4100 |
REPEAT
T
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
A
G
C
T
G
A
G
G
C
G
G
G
T
G
4150
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
G
A
A
A
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
4200
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
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
T
G
G
A
C
G
C
4250
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
4300
G
G
G
A
G
A
A
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
G
T
T
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
4350
G
G
G
G
A
T
C
C
T
A
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
A
A
A
A
A
A
A
A
A
A
4400 |
REPEAT
A
A
A
G
A
C
A
A
G
C
A
A
A
A
G
T
A
C
A
C
C
C
A
T
A
T
A
A
G
G
C
A
C
A
T
A
C
C
A
T
G
C
A
T
A
A
A
T
A
G
4450
A
G
C
T
T
G
C
A
G
G
A
C
T
G
G
A
A
G
T
T
G
C
C
C
T
G
A
G
T
T
T
G
T
C
A
G
C
A
A
G
T
G
G
G
T
G
G
T
G
A
4500
A
T
G
A
A
T
G
T
G
A
A
G
G
C
C
T
A
G
G
G
C
A
T
T
A
T
T
G
T
T
T
A
C
C
A
C
T
G
T
A
G
A
C
T
T
T
A
T
A
A
4550
A
C
A
C
T
G
T
A
T
A
C
A
T
A
A
G
C
A
A
C
A
T
T
C
A
T
T
T
T
A
T
T
T
A
A
A
T
T
T
T
T
T
T
T
C
T
T
C
A
A
4600
T
A
A
T
A
A
A
T
T
A
A
C
C
T
T
A
G
C
T
T
A
C
T
A
T
A
A
C
T
C
T
T
T
T
A
C
T
T
T
A
T
A
A
A
C
T
T
C
T
T
4650
A
T
T
T
T
T
A
A
C
A
T
T
T
T
C
A
C
T
C
T
T
T
C
C
A
A
A
T
A
A
C
A
C
T
T
A
G
C
C
T
A
A
A
A
C
A
C
A
A
A
4700
C
G
C
G
G
C
C
A
G
G
C
G
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
T
G
G
C
A
C
T
T
T
G
G
G
A
G
G
C
4750 |
REPEAT
C
A
A
G
G
C
A
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
A
A
G
A
T
C
A
G
C
C
T
G
G
C
C
A
A
4800
C
A
C
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
G
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
4850
T
G
G
T
G
G
G
C
A
C
C
T
A
T
A
A
T
T
C
C
G
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
T
4900
G
C
T
T
G
A
A
C
T
C
A
G
G
A
A
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
A
C
4950
A
T
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
A
G
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
5000
A
A
A
A
C
C
C
A
C
A
A
A
A
C
C
A
C
A
A
A
C
A
A
A
C
A
C
A
T
A
G
T
A
T
G
G
C
T
G
T
A
C
A
A
A
A
A
T
A
T
5050 |
REPEAT
T
T
T
G
T
T
T
C
T
T
T
A
C
A
T
G
T
T
T
A
T
T
C
T
A
T
A
A
G
C
T
T
T
T
T
T
C
T
A
T
T
T
T
T
A
A
A
A
T
T
5100
T
T
A
A
A
C
T
T
T
T
T
T
T
T
T
T
A
A
C
T
T
T
T
A
A
A
C
T
T
T
G
T
T
G
T
A
A
A
A
A
A
T
T
A
A
A
T
C
A
T
5150
G
G
T
T
G
G
G
C
A
T
A
G
C
G
G
T
T
C
A
T
G
C
C
T
G
G
G
A
T
G
T
C
G
A
G
G
A
G
C
C
A
T
G
A
T
T
G
T
G
C
5200 |
REPEAT
C
A
C
T
G
T
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
A
A
A
A
C
A
A
A
A
5250
C
A
A
A
A
C
A
A
A
A
C
A
A
A
G
G
C
T
G
G
G
T
G
T
G
G
T
G
G
T
T
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
A
5300 |
REPEAT
C
T
T
T
G
G
T
A
G
G
T
C
A
A
G
G
T
A
G
G
T
G
G
A
T
C
A
C
T
T
G
A
A
T
T
T
G
G
G
A
G
T
T
T
G
A
G
A
T
T
5350
A
G
C
C
T
A
G
G
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
G
T
A
C
T
A
A
A
A
A
C
A
C
A
A
A
A
C
A
T
T
5400
A
G
C
C
G
G
G
C
T
T
G
G
T
G
G
C
A
T
G
T
G
C
C
T
G
T
A
G
T
T
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
A
G
5450
G
C
G
G
G
A
G
G
A
T
C
A
C
G
T
G
C
C
T
G
A
G
A
G
G
T
C
A
G
G
G
C
T
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
C
T
5500
T
C
T
G
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
A
A
G
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
5550
A
A
A
A
A
A
G
A
A
A
G
A
A
A
A
A
A
A
A
T
T
A
C
A
A
C
A
C
A
A
A
C
A
C
A
C
A
C
A
T
C
A
G
C
C
T
A
G
G
C
5600 |
REPEAT
C
T
A
C
A
C
A
G
C
G
T
C
A
G
G
A
T
C
A
T
C
T
A
C
A
T
C
A
C
C
A
T
C
T
T
C
C
A
C
C
T
C
C
A
G
A
T
T
T
T
5650
G
T
C
C
C
T
C
T
G
G
A
A
A
G
T
G
T
T
C
A
G
G
A
G
C
A
A
T
A
A
C
A
T
A
C
A
T
G
G
A
G
G
T
G
T
C
A
T
C
T
5700
C
C
T
A
T
T
G
T
A
G
C
A
A
T
T
C
C
T
T
C
T
T
T
T
G
G
A
T
T
A
C
C
T
A
C
C
G
A
A
G
G
A
C
C
T
G
C
C
T
G
5750
A
G
G
C
T
G
T
T
T
T
A
C
A
G
T
T
T
A
C
T
T
T
T
T
T
T
T
T
T
T
T
A
A
G
T
A
G
A
A
G
G
A
G
T
A
A
C
T
T
C
5800
T
A
A
A
A
T
A
A
T
G
A
T
A
A
A
A
A
A
A
G
T
A
T
A
G
T
A
A
A
T
A
T
A
T
A
A
A
C
C
A
G
T
A
A
G
T
T
A
C
T
5850
T
A
T
C
A
T
T
A
T
C
C
A
G
T
A
T
T
A
T
G
T
A
C
T
A
T
A
C
A
T
A
A
T
T
G
T
G
T
G
T
G
C
T
A
G
A
C
T
T
T
5900
T
T
T
A
T
A
A
G
A
C
T
G
T
A
G
A
A
C
A
G
T
A
G
A
T
T
T
G
T
T
T
A
C
A
G
T
A
G
T
G
T
C
A
C
C
A
C
A
A
A
5950
T
G
T
G
T
G
A
G
T
A
A
T
G
C
A
T
T
G
T
G
C
T
G
T
A
A
C
C
C
A
G
G
A
G
T
T
T
A
A
A
A
T
T
A
T
C
C
T
G
G
6000 |
REPEAT
G
C
A
A
T
A
T
G
G
C
G
A
A
A
T
G
C
T
G
T
C
T
G
T
A
C
T
A
A
A
A
A
T
A
T
G
A
A
A
T
T
T
A
G
C
C
A
T
T
A
6050 |
REPEAT
C
A
G
T
G
G
C
T
A
T
G
A
C
C
T
C
A
T
T
A
G
A
T
G
A
C
A
G
T
A
A
T
T
T
T
T
T
A
G
C
T
C
C
A
T
T
A
T
A
A
6100
T
C
T
T
A
T
G
G
G
A
C
C
A
C
T
G
T
C
A
T
A
T
A
T
G
C
A
G
T
C
C
A
T
T
G
T
T
G
A
C
C
A
A
A
A
T
G
T
G
A
6150
T
T
A
T
G
T
A
G
T
A
C
A
T
G
A
T
T
A
T
C
C
T
T
T
A
G
A
T
C
A
T
C
T
C
T
A
G
A
T
T
A
C
T
T
A
T
A
A
T
A
6200 |
REPEAT
T
C
T
C
T
A
A
T
A
C
A
A
T
G
T
A
A
A
T
G
C
T
A
T
G
T
A
A
A
T
A
G
T
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
6250 |
REPEAT
T
G
T
C
G
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
G
T
A
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
6300
T
G
G
C
A
T
G
A
T
C
A
A
G
G
G
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
T
C
T
C
C
C
C
A
G
G
C
T
C
A
G
G
T
G
A
T
6350
C
C
T
C
C
C
A
C
C
T
T
A
G
C
A
T
C
C
C
A
A
C
T
G
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
G
A
G
C
C
A
C
C
A
6400
C
A
C
C
T
G
G
C
C
A
A
T
T
T
T
T
G
C
A
T
T
T
T
T
T
G
T
A
G
C
G
A
T
G
G
A
G
T
C
T
C
A
C
T
A
T
G
T
T
G
6450
C
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
A
C
T
C
A
A
G
C
A
A
T
C
T
G
C
C
C
A
C
C
T
C
A
G
C
C
6500
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
G
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
T
A
A
G
T
6550 |
REPEAT
A
G
T
T
G
T
T
A
T
G
C
T
G
T
A
T
T
G
T
T
T
A
G
G
G
A
A
T
A
A
T
A
C
A
A
G
A
A
A
A
A
A
A
A
T
C
T
G
C
A
6600
T
A
T
A
T
T
T
A
G
T
A
C
A
G
A
T
G
C
A
A
C
C
A
T
C
A
T
T
T
T
T
T
T
T
C
C
A
A
A
T
A
T
T
T
T
T
G
A
T
C
6650
C
A
T
G
A
T
T
G
G
T
T
G
A
A
T
C
C
A
G
G
G
A
T
T
T
G
A
A
A
C
C
C
G
T
G
G
A
T
A
T
A
G
C
G
A
G
C
C
A
A
6700
G
T
G
T
T
T
A
C
A
G
A
G
A
G
C
A
G
G
T
A
A
T
G
G
A
G
A
A
C
C
A
A
T
A
T
A
C
A
T
G
T
G
A
C
T
G
G
T
A
T
6750 |
REPEAT
C
C
C
G
G
A
A
A
A
T
A
A
G
A
A
C
A
G
A
G
T
A
A
A
T
A
G
T
G
C
A
G
A
A
G
A
A
A
A
T
G
A
T
C
T
G
A
A
G
A
6800
G
A
T
T
T
C
A
G
C
A
G
A
C
A
A
T
G
T
T
T
A
T
G
A
A
A
T
A
A
A
G
A
A
A
G
A
C
T
T
G
A
C
T
G
C
A
G
A
T
T
6850
A
A
A
A
C
A
A
C
T
T
A
A
T
A
G
A
T
A
C
A
G
G
A
A
A
A
T
T
T
A
G
A
A
C
C
A
C
C
C
A
G
A
C
C
A
A
C
A
T
T
6900
G
A
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
A
G
A
G
T
C
T
C
G
C
T
C
T
G
T
T
G
T
C
C
A
G
6950 |
REPEAT
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
T
G
T
T
C
A
7000
A
G
C
A
A
T
T
C
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
A
G
A
T
T
A
C
A
G
G
C
A
C
C
C
A
C
7050
C
A
C
C
A
C
G
G
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
A
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
7100
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
G
T
T
T
A
A
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
T
C
G
C
T
T
7150
T
G
G
T
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
C
G
C
C
C
G
G
C
C
C
7200 |
REPEAT
C
A
A
C
A
T
T
G
A
T
T
C
T
T
A
T
G
A
A
A
G
T
A
C
T
G
T
G
C
T
C
C
A
G
A
G
A
T
G
A
G
G
A
A
A
G
A
A
T
T
7250
T
T
A
T
A
A
G
C
A
T
C
T
A
G
A
G
A
G
A
A
G
A
G
G
A
A
A
A
C
T
A
T
G
T
A
A
A
A
T
G
T
A
A
A
A
A
T
T
T
T
7300
T
A
A
A
A
T
T
T
C
A
T
G
C
T
G
T
G
C
A
C
A
G
C
A
A
C
A
T
T
A
T
A
A
A
C
C
A
G
G
A
G
A
T
A
G
T
G
T
A
G
7350
C
A
A
T
G
C
T
T
A
T
A
A
A
A
T
G
A
A
A
C
A
T
G
A
A
G
T
C
A
T
T
T
A
C
A
T
T
T
T
A
G
A
C
A
C
C
A
G
A
G
7400
G
G
C
C
A
T
T
C
T
C
A
G
A
T
T
T
G
G
A
A
A
A
T
G
T
T
G
G
G
A
A
A
A
T
T
T
A
G
G
T
T
T
C
A
A
G
G
T
T
C
7450
T
T
T
C
T
T
G
A
A
A
A
A
T
C
T
A
C
T
T
A
A
A
G
A
T
A
C
C
C
T
T
C
T
A
A
C
C
A
A
T
T
T
T
T
T
T
T
T
A
A
7500
C
T
C
A
A
G
C
A
A
A
A
G
T
G
C
A
A
A
G
T
A
T
A
A
T
T
A
T
T
A
A
T
G
A
G
G
T
A
G
A
A
A
A
T
T
G
A
G
T
C
7550 |
REPEAT
A
A
G
A
A
G
T
T
A
G
A
A
A
A
A
A
C
A
A
A
A
A
A
C
A
G
A
A
T
G
T
T
T
T
A
C
C
C
C
C
A
A
A
A
A
G
C
A
G
A
7600
A
G
A
A
A
G
A
A
A
A
T
A
A
C
A
A
T
G
G
T
T
G
A
A
A
T
T
A
C
T
A
T
A
A
A
A
G
A
A
A
T
A
A
A
A
A
A
T
A
A
7650
A
A
A
A
A
A
A
A
G
A
T
C
A
A
T
A
A
A
A
C
C
A
A
A
A
G
C
T
A
G
T
T
T
T
T
T
G
A
C
A
A
G
A
T
T
A
A
T
A
A
7700
A
A
T
A
G
C
A
A
A
A
C
T
C
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
C
T
A
A
T
C
C
T
A
G
C
A
T
7750 |
REPEAT
T
T
T
G
G
A
A
G
G
C
T
G
A
G
G
C
G
G
G
C
A
G
A
T
A
A
C
T
T
G
A
G
C
T
T
A
G
G
A
G
T
T
C
G
A
G
A
A
C
A
7800
G
C
C
T
G
G
G
C
A
A
T
A
T
G
G
C
C
A
A
A
C
G
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
T
T
7850
A
C
C
C
A
G
G
C
A
T
G
G
T
G
G
T
G
T
G
T
G
C
C
T
G
T
A
G
T
T
C
C
A
G
G
T
G
C
T
T
G
T
G
A
G
G
C
T
G
A
7900
G
A
C
A
G
G
A
A
G
A
T
G
G
T
T
T
G
A
A
C
C
C
A
G
G
A
G
G
T
C
A
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
G
A
G
G
7950
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
G
G
G
T
G
A
C
A
A
A
G
T
G
A
C
A
C
C
C
T
G
T
C
T
G
A
A
A
8000
A
A
A
A
T
T
A
A
A
A
A
A
A
T
A
T
C
A
A
A
A
C
T
T
T
G
G
A
C
A
A
G
A
T
T
T
T
T
G
T
C
G
G
A
C
T
A
A
G
A
8050 |
REPEAT
A
A
A
A
A
A
G
G
T
A
G
A
G
A
T
A
A
T
A
A
T
A
G
T
A
G
A
A
A
T
G
A
T
G
C
T
A
T
T
A
T
A
T
T
C
A
T
C
T
T
8100
T
T
T
C
A
T
T
A
A
G
T
T
A
T
G
A
T
C
C
A
GTATACAGCT TTACTGTAAT ATCTCTTGCC
8150
TTGTTTTTTG AGATTAGAAA GGGTATAACA AGCTAGAAAG TGTT
A
TAGTA
8200 |
var(8195):[G:0.01]
CTTTCCAAGG ACAAACAAGA AAAAGT
G
ACT TCTTTCCT
A
T TGTTAAAATC
8250 |
var(8227):[A:0.01]
|
var(8239):[G:0.28]
TATCTTCGTC GATTTTTTTC TGGTAGAGGG AGATACGTAG TCACACTTTT
8300
GCTCAAGGTA ATATAATAGG AAAATATATA ACATCCAAGT TGTCTTTCAA
8350
ATTGCTCATT TAGTAATTTT ATTAGAAGAA TGATTTTTAA AAGGTTAAAT
8400
CTTTGTTGTC ATTTATATTA AACAGGAATT TTTTTTCTTT GTAG
G
C
A
G
T
T
8450 | Exon 4
A V 82
A
G
T
C
C
T
T
T
A
T
T
A
T
T
G
A
C
A
A
C
A
A
C
G
A
A
T
T
C
T
T
C
A
G
A
A
G
G
A
T
T
A
T
C
C
A
T
G
G
G
8500
S P L L L T T T N S S E G L S M G 99
G
A
A
T
T
A
C
A
T
A
G
G
C
C
T
T
A
T
C
A
A
T
A
G
A
A
T
T
G
C
C
C
A
G
A
A
G
A
A
A
A
G
A
C
T
A
A
C
T
G
8550
N Y I G L I N R I A Q K K R L T 115
T
A
A
A
T
T
A
T
G
A
A
C
A
G
T
G
T
G
C
A
T
C
G
G
G
G
G
T
G
C
A
T
G
G
G
C
C
A
G
A
A
G
G
GTAAGAC
8600
V N Y E Q C A S G V H G P E G 130
ATAATTTGGC TTTTCTTTCT GTTTCATTGT ATTTAAGCAA TAAAGTTGGT
8650
TTATTTTCGT GTCTAATTTT CCAGAAATAT GTGTCCTTTT AAGCATTCTG
8700
TATGCAAGGT TTTACATGAT T
G
ATAAGTAA TTGGATTTAT AATTTGTAAT
8750 |
var(8722):[T:0.03]
TAAAATGCTT AATTGCTGAA GCCATGGAAC CCATTTACCA TAATTGATCA
8800
AATTAGGGTA ATCCTTTATT TCAGA
G
AAGT AGCTGG
A
TGG TTTAGTCTGT
8850 |
var(8826):[A:0.01]
|
var(8837):[G:0.27]
GGAACACCCA AGAGAGTACA GGGTGCCACT GCTC
G
AAGAA TACAGAAATC
8900 |
var(8885):[A:0.01]
TTTTCATCAT TGAGGACATG AT
G
GTGGTAA CTGTCTGAAA ACCTCTCTGC
8950 |
var(8923):[A:0.03]
CACATGTATA GAATCACTCT TCACCCTTGT CAGATCAGGG AGCTCTTTGT
9000
CCAGGTATTT GTCCTTCAAA TTTGATTAAA TGAACAAATA CCATGTATCA
9050
GAAGGAATGA GCTTTAGCCC TAGACTATGA GGAGACCGGG ATTTGAGGGA
9100
TCTGATGAGA CAGATGAACT AGAGTTTCAA AGTTACTGAG AACATCACCA
9150
GTGAGCTAAG ATGTGTGGAA ATAGGATAAA GAATGGATTG GAACTGAAAA
9200
AAGCAGAAAT CAAATGAGTA TGAGGCAATT GTTTTTCAAC T
A
CAACCAAC
9250 |
var(9242):[G:0.01]
CAGTTAAAGA
G
A
A
A
G
A
AGAA AAAAAATATC TACATGGCAA ATAGTT
C
AAA
9300 |
var(9261):[-:0.06]
|
var(9297):[T:0.03]
TCATCACTTT AGGATACACT TCTATGAATT GACTCAGCTA TTTACAGTCA
9350
TGGCTTTTGA GCCAAAACCA GGAAGAGAAA AATGTTATAG TATTCATTGG
9400
AATGAAATAG TCAAAAGTGA ATCTGTGAGT CAATCTCAAT AATTAAGAGA
9450
TGATTTTATT TTCTGTAGCT CACTTTTTTG GTTTCTTTAA ATTATGCTAA
9500
CATTAGATAC CTAAAAGAAA GAAGAAATCT GTTTGCGGGG GGGGG
C
AGTA
9550 |
var(9546):[A:0.01]
TCTGAAAAAA ATAGGAGCTA TAGAAATGAT CCAGTCA
C
TC AACCCAGCTA
9600 |
var(9588):[T:0.08]
TTTAATTCAG GGTCTAGCGG GGAAGACTCA CCCTGTTTGG ATGTGTTTCT
9650
CTCGATGGCT TCCAACAGAA ACATAAAGCA AAAGGAGTTC AAATACTGGA
9700
ATCATTTTTC AGTAATAGAT AGTAACCCTG TGATA
T
AAAT TGCCATGTCC
9750 |
var(9736):[A:0.01]
ATTGTTTTAT CCCTTAAAAA TAGTTATTAT ATAATTGTCC AAG
T
ATCCTT
9800 |
var(9794):[A:0.08]
GCCTAACCAC AAATGTCCTT ACATCTAATA GGAGGAGAGT GTGGACTTTA
9850
GTATAGGGAA TCTGCACTGT GGGGATTTTC TCAAATTTTT GTGCACATGA
9900
GCAGATGGCA GACAATGGTG AAGTTAGAGC AGAATCCATG CTTTGCTCTT
9950
CCCCTACACT ATAACCTCAT AGCTTCTCCT GTGGAAGCCT ACTTTCTCTG
10000
CTGGCTTTTT CCTTCCCATT TGAGCACCTC T
G
AAAAAATT CACTGGATCT
10050 |
var(10032):[C:0.03]
CTTTCTTTCT TTTCTACCTC CGTATCTTTT GACCTTTGGG GAATTAAAAA
10100
AAAAAAATCA CCACTTAGTG CCTTTGTGCC AGATCTTTCA GCAAAGCAAC
10150
AAAAAATTAG AAATTGCCTG GAAAATGCAA G
C
TCAGATGT CAGCTGATCC
10200 |
var(10182):[T:0.08]
TGGGTATTCA GAGAAATTGG TCAGGCATGT TACTGAGGGT TTAAATTATG
10250
CAAGATATGA ACTATAA
A
TC TATCTAATAA ATTGGTGTTA TCTTAAGATC
10300 |
var(10268):[C:0.01]
TCTGTTAATA TGTTATTTTT TTTGAATCCT AAGTTGGATT TGCTATATTT
10350
TTCATGTTTG GATAAGTACC TTCTATGATT TCTCCTAG
A
T
T
T
C
A
T
T
A
T
A
A
10400 | Exon 5
F H Y K 134
A
T
G
C
A
A
A
A
T
G
G
G
A
C
A
G
A
A
A
G
A
A
T
A
T
A
G
T
A
T
T
G
G
T
A
C
A
G
G
T
T
C
T
A
C
T
A
A
A
C
10450
C K M G Q K E Y S I G T G S T K 150
A
G
G
A
A
G
C
A
A
A
A
C
A
A
T
T
G
G
C
C
G
C
T
A
A
A
C
T
T
G
C
A
T
A
T
C
T
T
C
A
G
A
T
A
T
T
A
T
C
A
10500
Q E A K Q L A A K L A Y L Q I L S 167
G
A
A
G
A
A
A
C
C
T
C
A
G
T
G
GTACG TATTGCCTTT GGATTAAATT TTTATGTTTT
10550
E E T S V 172
AAAATTCCCT CTGAAGTTGA
C
TTGAGGTTA GACTGTGTTA ACATTATGCC
10600 |
var(10571):[G:0.01]
A
AGACAGCCA GTGATTTAGC AAAATGATTC CTCCATTCTG TGTCGTACCG
10650 |
var(10601):[G:0.04]
ATGAGCCATG CACCATGGGG CCATGAGGCC TCAGAGGGAT AAAATTTCTG
10700
GTGGCAACTC AGGGTAGTTT TTAAACTCCA GGCTG
G
G
C
T
G
G
G
T
G
T
G
G
T
G
G
10750 |
REPEAT
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
A
A
G
G
C
A
G
G
T
G
G
A
T
C
T
C
C
10800
T
G
A
G
T
T
C
A
G
G
A
G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
A
T
C
T
C
G
C
T
C
T
G
10850 |
REPEAT
|
NOT SCANNED
T
T
G
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
10900
C
C
T
C
C
C
A
T
G
T
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
A
C
T
G
A
G
T
A
G
C
T
G
G
G
A
10950
C
T
A
C
A
A
G
C
G
C
C
T
G
C
T
A
C
C
G
T
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
11000
T
G
G
G
G
T
T
T
C
A
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
T
G
A
11050
T
C
C
A
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
T
A
A
A
G
T
G
C
T
G
G
G
G
T
T
T
A
C
A
G
G
C
T
T
G
A
G
C
C
A
C
11100
T
G
C
A
C
C
T
G
G
C
C
G
A
A
C
T
C
A
G
G
A
G
T
T
T
C
A
G
A
C
C
A
C
C
T
G
G
C
C
G
G
G
G
C
A
A
C
A
C
A
11150 |
REPEAT
G
C
A
A
A
A
C
C
A
T
G
T
C
G
C
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
A
C
G
G
G
T
G
T
G
G
T
G
G
11200
C
A
T
G
T
A
C
C
T
G
T
A
G
T
C
C
T
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
A
G
G
A
T
T
G
C
C
11250
T
G
A
G
C
C
T
G
G
G
A
G
A
T
G
G
A
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
A
C
T
G
C
A
C
T
11300
T
C
A
A
C
C
T
A
G
A
C
A
A
C
A
G
A
G
C
C
A
G
A
T
C
C
T
G
T
C
T
G
A
A
A
A
G
A
A
A
G
A
A
A
C
A
A
A
C
A
11350
A
A
A
TATCTGC CCTGTGATCC AGAAAAGTAA AATAAAAAAT AAAATAAAAT
11400
CCAGACCAAA CATCCAAAAA ATGTTATTAA TCTTGTAATT GTTTATGGTT
11450
GTGGATTTGG TAAATGTGTT GAAATAAATG TGATA
G
TACA
T
AGAAACTGA
11500 |
var(11486):[A:0.01]
|
var(11491):[C:0.09]
GCCTCTGTAG AGAAATAATT AGTTGTATTT AAGCCTACTA AGGGATACTT
11550
TTTCTTTCAG
A
A
A
T
C
T
G
A
C
T
A
C
C
T
G
T
C
C
T
C
T
G
G
T
T
C
T
T
T
T
G
C
T
A
C
T
A
C
G
T
11600 | Exon 6
K S D Y L S S G S F A T T 185
G
T
G
A
G
T
C
C
C
A
A
A
G
C
A
A
C
T
C
T
T
T
A
G
T
G
A
C
C
A
G
C
A
C
A
C
T
GTA AGTGTAGA
C
A
11650 |
var(11649):[T:0.06]
C E S Q S N S L V T S T L 198
AACAATTGAG ATACTTAACA TATTCATATT TCTGTCTGAA AGA
C
AGATTT
11700 |
var(11694):[A:0.01]
TTATGTTTAA GGAGAATTTA GGGAAAGAAA TAAGTGATAA AAACAGAATT
11750
AATAAACTAA TAGTTACACC CTTTTCTTCT AG
C
G
C
T
T
C
T
G
A
A
T
C
A
T
C
A
T
C
11800 | Exon 7
A S E S S S 204
T
G
A
A
G
G
T
G
A
C
T
T
C
T
C
A
G
C
A
G
A
T
A
C
A
T
C
A
G
A
G
A
T
A
A
A
T
T
C
T
A
A
C
A
G
T
G
A
C
A
11850
E G D F S A D T S E I N S N S D 220
G
T
T
T
A
A
A
C
A
G
T
T
C
T
T
C
G
T
T
G
C
T
T
A
T
G
GTAT CGTATTAGTC TCGAAGCTTC
11900
S L N S S S L L M 229
CTACTTAATC TTATTTTTCT GTGCGTTTCC TCATTTAAAA ATAACTTCCA
11950
GTATTCCACC ATAATTTTTA TATTTTTTAT CTTATGCACT CTTACTAAAT
12000
GATAATACCT CAGTAGAC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
12050 |
REPEAT
C
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
A
G
A
T
C
T
T
G
G
C
T
A
A
T
T
A
C
C
A
12100
C
C
T
C
C
A
C
C
T
C
C
T
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
12150
T
G
G
G
A
T
T
A
C
A
T
G
C
G
C
G
T
G
T
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
C
T
T
T
T
A
G
T
12200
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
T
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
12250 |
var(12219):[C:0.03]
|
var(12221):[C:0.02]
C
G
T
G
T
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
C
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
12300 |
var(12279):[A:0.03]
C
C
A
C
C
G
C
G
C
C
C
G
G
C
T
CGGCA GCTTTT
T
GAC TTTTTTTAAA ATTAAGTTCC
12350 |
var(12327):[C:0.03]
ATTCCTTACC CTTCCACACG TCACTTCTGT CTTTCCTCAC TCATCCTTAT
12400
ATTTTAGTAT ATTCCTATGA TTTTGCTTTT CTCTCCTACC AATGGGATAA
12450
TATTTAAAGA TTCACTAATA TAGTTCGTTT CTGTTTTTAA AAATTAGAAT
12500
TAAACTTAAA AGTAAACTTG AAATCAGATA ATTTTTTAGG CT
G
G
T
G
C
A
G
T
12550 |
REPEAT
G
G
C
A
C
A
T
G
C
C
T
G
T
A
G
C
C
T
G
C
A
G
C
A
C
T
T
G
A
G
A
G
G
C
C
A
A
G
G
T
A
G
G
A
G
G
A
T
C
G
12600
C
T
T
T
A
G
C
C
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
T
C
A
12650
T
C
G
C
A
A
A
A
A
C
A
A
A
C
A
A
A
C
A
A
A
C
A
A
A
A
A
CCA GACAATTTTT TTGTGCACAT
12700 |
var(12665):[G:0.01]
AAGCAGGCAA TGTTGAACTT AGAGCAAAAT CCATGCTTTT GGTGATTAGT
12750
GTTACAAGAG TATTCTGT
T
A
T
A
A
A
G
A
A
C
T
A
C
A
A
A
T
C
A
A
T
A
A
G
A
A
A
A
T
G
G
C
12800 |
REPEAT
|
var(12797):[C:0.01]
A
A
G
C
A
G
C
T
C
A
G
T
A
G
A
A
A
A
G
T
G
T
A
C
A
A
A
A
T
G
T
A
T
A
A
A
C
A
G
A
T
A
T
T
C
A
G
A
G
A
12850 |
var(12803):[A:0.01]
A
G
A
G
A
T
A
C
C
C
A
A
A
T
G
G
G
C
A
A
C
A
A
A
T
A
T
T
A
A
A
A
G
C
T
G
C
T
T
T
A
C
T
A
G
G
A
A
T
C
12900
A
G
G
A
A
A
A
T
T
T
A
A
A
T
C
A
A
A
A
C
A
A
T
T
A
G
A
T
A
C
T
A
T
T
T
T
A
A
A
C
T
C
A
T
T
A
G
A
T
T
12950
G
G
C
A
A
A
A
A
G
T
T
A
A
G
T
C
T
T
A
C
A
A
T
A
C
T
A
A
G
T
G
T
T
G
A
T
A
CAG GGCTTGATGA
13000
GAGTACAGAC ATTGATGGAC TAAGAAATTG GTCAGAGAGC CATCTAGATA
13050
TACAGGAGGA AGGAAAACGG GAAAGGAAGA TGACTGATTT AGTCATCTGA
13100
AACTATTTCT CATTTTCTTT TGTTATAG
A
A
T
G
G
T
C
T
C
A
G
A
A
A
T
A
A
T
C
A
A
A
13150 | Exon 8
N G L R N N Q 236
G
G
A
A
G
G
C
A
A
A
A
A
G
GTGAGTA TCATTATGCA TTGAACATAT TTTGATCTGA
13200
R K A K R 241
AGTTTTATTT CAGACTTATT TATTGTTCTT AATACTTGTA GAGTATTGTA
13250
CACCCTTATT TGAGCAGAGT TTCAGAAGCA GAAAGCTTGA AATCTATAAA
13300
CAAATAATTT TAGATGTGT
C
G
AGAAATCTT TGACTATGTG CACATGCTAC
13350 |
var(13320):[-:0.01]
|
var(13321):[C:0.03]
ACTGTAAACA TAAAGCACTT TGGGGGTATC GCTAGAGTAA TTAGGTTAAG
13400
GGCATTATTT TGTACAAGAC TGGCAAGGAA TTGGGCTGTT TTCACTGTAG
13450
AAGTGTTTTC AAGAGAAGTG TATTATTTTG CA
G
ACAAG
T
A
A
G
GTTAAAAT
13500 |
var(13483):[A:0.05]
|
var(13489):[-:0.02]
AGCATAAAAA CTTGGATTAA AAAAAGGT
C
A AATGCTATGT CAATTAACTG
13550 |
var(13529):[T:0.03]
AAGAGAAAGG CAAAGATGTA AATATAGTCA GAAATGACAG TAAGATGGCA
13600
GTAGGAGCCA TTATGAGCCA CCAGTATATT CTGAGCAGTA GATAGATGTA
13650
TTGAAGAAAC ATGGTTCTTG ATGTGGATGC TTGGATGGA
G
AGAAGAGAGT
13700 |
var(13690):[A:0.01]
TCTGCACATG AGGTGCCCTC AGCCACGATT ACTGTGGCAG TCAGGAGGGA
13750
TGAGGAGAAT GTGTGAGAAA GACTGTAAAG GAAGAGTGGA CATGACTTGA
13800
GGGAATAGGT TCCCCGTAGC TGAGTGAAAG CATGAAGGAG AGGTAAAGGA
13850
GAAAGGATTT GAAGATTGCT TCACTTTGAA CAGGATGCAG TCAAGAACCA
13900
TGGCACTAAT GGTGTTAAGG AAGTTAAGGA GTTAAGGGCT TAGAGAGAAG
13950
ACAGCAGTTT
G
GATATGTTT AGTTTTAGGT GGTATTTAAA CTTCCATTTG
14000 |
var(13961):[A:0.01]
CAGGTGGCTT ATCATCAGTA AGGAATAACA GCTAGGATGA GGGTGTAAGG
14050
AGATGTACTT CCTGAGGTTT TGAGTCTGGA GGAGGAAAAG GAGAGGTTAG
14100
TGACGCATCA ACAATGAGCA CTCTAAGGTG GAAAAAGGAA CCAGAGGAGG
14150
GATGAAAAAG TATTAGAGGC CAGAGGAGAA C
G
GTAAGTAT ATAGTTTTAT
14200 |
var(14182):[T:0.08]
AAAGAAAAAA GTT
G
G
C
T
G
G
G
T
G
C
T
G
T
G
G
C
T
T
G
C
G
C
C
T
G
T
G
A
T
C
C
C
C
A
G
C
A
14250 |
REPEAT
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
T
G
G
G
A
G
G
A
T
G
G
C
T
T
G
G
G
T
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
14300
A
G
A
C
T
G
G
G
T
A
A
C
A
T
G
A
A
G
A
G
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
A
A
A
A
G
A
A
T
T
14350
A
G
C
C
A
G
G
T
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
C
T
G
G
G
A
G
G
C
T
G
A
14400
G
G
T
G
G
G
A
G
G
A
T
C
T
C
C
T
C
T
G
A
G
C
C
C
A
G
A
A
T
T
T
C
A
A
A
G
T
T
G
T
A
G
T
G
A
G
C
T
A
T
14450 |
var(14424):[T:0.06]
G
A
T
C
A
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
G
C
T
G
G
G
A
G
A
T
G
G
G
G
T
G
A
G
A
C
C
T
T
G
C
C
T
C
T
14500
G
A
A
G
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
A
A
A
GGTTAAC ATTAACACTA AATAAGTTAT
14550
ATTTGATTTC AATTTTATTT GAGTTTTACA TTCAACTCTT AATTTTTAG
A
14600 | Exon 9
241
T
C
T
T
T
G
G
C
A
C
C
C
A
G
A
T
T
T
G
A
C
C
T
T
C
C
T
G
A
C
A
T
G
A
A
A
G
A
A
A
C
A
A
A
G
T
A
T
A
C
14650
S L A P R F D L P D M K E T K Y T 258
T
G
T
G
G
A
C
A
A
G
A
G
GTAAGATT TTAAGTGCTG AAGAAAGAAG A
A
G
G
G
G
T
A
A
T
14700 |
REPEAT
V D K R 262
G
C
T
G
T
C
G
G
T
G
G
A
T
G
T
T
T
T
T
G
G
T
A
G
T
T
G
T
C
T
G
T
G
A
A
A
T
G
G
C
C
A
T
G
A
T
C
C
T
G
14750 |
var(14734):[C:0.05]
T
C
A
G
T
T
A
A
A
A
A
T
A
T
T
T
G
A
A
T
A
A
G
A
T
T
A
A
C
T
A
C
G
C
A
G
G
G
T
A
A
G
A
A
C
A
A
T
A
G
14800 |
var(14794):[G:0.10]
T
C
T
T
A
G
G
C
T
T
A
T
C
A
T
T
A
A
G
A
G
G
G
G
G
C
C
C
A
G
G
A
A
T
G
G
G
A
T
G
A
C
C
C
A
T
A
T
T
A
14850 |
var(14815):[C:0.05]
T
G
A
T
T
T
T
G
T
T
C
C
C
A
A
A
C
C
A
A
G
A
A
T
C
T
A
G
T
T
G
G
T
T
G
T
T
T
T
G
A
T
A
C
T
C
C
C
T
T
14900 |
var(14878):[T:0.08]
A
G
C
T
T
T
T
T
A
G
C
C
C
T
T
T
C
T
T
T
A
A
G
T
T
T
T
T
C
A
T
C
A
G
C
G
T
T
T
C
T
T
A
C
T
A
G
G
C
C
14950 |
NOT SCANNED
C
A
A
T
T
G
G
T
T
G
A
G
A
T
A
A
A
A
G
C
A
A
C
A
T
T
C
C
T
C
A
C
C
C
A
A
T
G
A
G
A
G
G
C
A
G
A
G
G
T
15000
C
C
C
T
T
T
T
T
T
C
A
G
C
C
A
T
T
A
T
T
A
G
A
T
C
T
A
G
T
C
C
C
C
A
T
C
T
G
T
T
T
T
G
G
A
G
G
A
C
T
15050
A
C
T
C
C
A
G
C
C
G
A
G
G
A
G
T
C
T
A
G
T
T
T
G
T
C
T
T
G
G
A
C
T
C
T
T
A
T
A
A
T
G
C
T
T
C
A
G
G
C
15100
T
A
T
A
T
C
T
T
C
T
A
A
A
G
A
A
C
C
C
T
G
T
A
A
T
T
C
T
G
T
G
G
A
A
A
G
A
G
C
T
T
T
A
A
A
G
T
A
T
G
15150
T
T
A
A
G
G
G
A
G
T
G
G
C
C
A
A
T
C
T
G
C
C
T
G
C
T
C
C
C
A
A
T
C
C
A
A
G
T
C
T
G
G
A