CCND1 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
GTGTTAGAGG TACGGTGTTT GATGACACTC CTGTGTATTC TGAAGGAAGT
50
ATATGAACAG TTTTCTTAAT TTGGGGCAGG TACTGTAAAA ATAAAAACAA
100
AAGTTAAGAC AGTAAAATGT CCTTTTATTT TTTAATGCAC CAAAGAGACA
150
GAACCTGTAA TTTTAAAAAC TGTGTATTTT AATTTACATC TGCTTAAGTT
200
TGCGATAATA TTG
G
GG
A
CCC TCTCATGTAA CCACGAACAC
C
TATCGATTT
250 |
var(214):[T:0.04]
|
var(217):[G:0.01]
|
var(241):[T:0.05]
TGCTAAAAAT CAGATCAGTA CACTCGTTTG TTTAATTGAT AATTGTTCTG
300
AATTATGCCG GCTCCTGCCA GCCCCCTCAC GCTCACGAAT TCAGTCCCAG
350
GGCAAATTCT AAAGGTGAAG GGACGTCTAC ACCCCCAACA AAACCAATTA
400
GGAACCTTCG GTGGTCTTGT CCCAGGCAGA GGGGACTAAT ATTTCCAGCA
450
ATTTAATTTC TTTTTTAATT AAAAAAAATG AGTCAGAATG GAGATCACTG
500
TTTCTCAGCT TTCCATTCAG AGGTGTGTTT CTCCCGGTTA AATTGCCGGC
550
ACGGGAAGGG AGGGGGTGCA GTTGGGGACC CCCGCAAGGA CCGACTGGTC
600
AAGGTAGGAA GGC
A
GCCCGA AGAGTCTCCA GGCTAGAAGG ACAAGATGAA
650 |
var(614):[T:0.04]
GGAAATGCTG GCCACCATCT TGGGCTGCTG CTGGAATTTT CGGGCATTTA
700
TTTTATTTTA TTTTTTGAGC GAGCGCATGC TAAGCTGAAA TCCCTTTAAC
750
TTTTAGGGTT ACCCCCTTGG GCATTTGCAA CGACGCCCCT GTGCGCCGGA
800
ATGAAACTTG CACAGGGGTT GTGTGCCCGG TCCTCCCCGT CCTTGCATGC
850
TAAATTAGTT CTTGCAATTT ACACGTGTTA ATGAAAATGA AAGAAGATGC
900
AGTCGCTGAG ATTCTTTGGC CGTCTGTCCG CCCGTGGGTG CCCTCGTGGC
950
GTTCTTG
G
AA ATGCGCCCAT TCTGCCGGCT TGGATATGGG GTGTCGCCGC
1000 |
var(958):[A:0.01]
GCCCCAGTCA CCCCTTCTCG TGGTCTCCCC AGGCTGCGTG TGGCCTGCCG
1050
GCCTTCCTAG TTGTCCCCTA CTGCAGAGCC ACCTCCACCT CACCCCCTAA
1100
ATCCCGGGGG ACCCACTCGA GGCGGACGGG GCCCCCTGCA CCCCTCTTCC
1150
CTGGCGGGGA GAAAGGCTGC AGCGGGGCGA TTTGCATTTC TATGAAAACC
1200
GGACTACAGG GGCAACTCCG CCGCAGGGCA GGCGCGGCGC CTCAGGGATG
1250
GCTTTTGGGC TCTGCCCCTC GCTGCTCCCG GCGTTTGGCG CCCGCGCCCC
1300
CTCCCCCTGC GCCCGCCCCC GCCCCC
C
TCC CGCTCCCATT CTCTGCCGGG
1350 |
var(1327):[A:0.01]
CTTTGATCTT TGCTTAACAA CAGTAACGT
C
A
C
A
C
G
G
A
C
T
A
C
A
G
G
G
G
A
G
T
T
1400 | Exon 1 |
UTR
T
T
G
T
T
G
A
A
G
T
T
G
C
A
A
A
G
T
C
C
T
G
G
A
G
C
C
T
C
C
A
G
A
G
G
G
C
T
G
T
C
G
G
C
G
C
A
G
T
A
1450
G
C
A
G
C
G
A
G
C
A
G
C
A
G
A
G
T
C
C
G
C
A
C
G
C
T
C
C
G
G
C
G
A
G
G
G
G
C
A
G
A
A
G
A
G
C
G
C
G
A
1500
G
G
G
A
G
C
G
C
G
G
G
G
C
A
G
C
A
G
A
A
G
C
G
A
G
A
G
C
C
G
A
G
C
G
C
G
G
A
C
C
C
A
G
C
C
A
G
G
A
C
1550
C
C
A
C
A
G
C
C
C
T
C
C
C
C
A
G
C
T
G
C
C
C
A
G
G
A
A
G
A
G
C
C
C
C
A
G
C
C
A
T
G
G
A
A
C
A
C
C
A
G
1600
M E H Q 4
C
T
C
C
T
G
T
G
C
T
G
C
G
A
A
G
T
G
G
A
A
A
C
C
A
T
C
C
G
C
C
G
C
G
C
G
T
A
C
C
C
C
G
A
T
G
C
C
A
A
1650
L L C C E V E T I R R A Y P D A N 21
C
C
T
C
C
T
C
A
A
C
G
A
C
C
G
G
G
T
G
C
T
G
C
G
G
G
C
C
A
T
G
C
T
G
A
A
G
G
C
G
G
A
G
G
A
G
A
C
C
T
1700
L L N D R V L R A M L K A E E T 37
G
C
G
C
G
C
C
C
T
C
G
G
T
G
T
C
C
T
A
C
T
T
C
A
A
A
T
G
T
G
T
G
C
A
G
A
A
G
G
A
G
G
T
C
C
T
G
C
C
G
1750
C A P S V S Y F K C V Q K E V L P 54
T
C
C
A
T
G
C
G
G
A
A
G
A
T
C
G
T
C
G
C
C
A
C
C
T
G
G
A
T
G
C
T
G
G
A
G
GTGC GGGGCTTCGG
1800
S M R K I V A T W M L E 66
GCGGCTCTCT TAAGACTTCC CTGCAACTTG TTGCCCAGAC CCACGTTTCT
1850
TTGCTACTCA CCCCCCTCCC TTCTCTCCCG CTAGAACTTT GAAGTTTGCC
1900
GTGGTGTTTC TAGGGATCCG TATTTTCAAA ATAAAAATTG CGGGTATTTT
1950
CTGAAGGAGG AAGGGGTGGG GGTGGGGGTG CTAGAAGTAG CGTTTCGTGG
2000
GAGGGGAGAA GGGGGTCCGG GAGGGGTGCC TTCGGGAGAA GCCAGTGCCA
2050
GGGGCACCCC AATGGGCCCG AGGGTGCGGG CTGGCAGGCT GGGTGCGCTT
2100
TGTGTCCCCC GCCTGCGCCC CAGCCCGGCT GCGCCTCAGC GGCCGGGAGC
2150
CGCCAACTCC GGGGGGAGGG GGCATAGATT TGATTTTTAA ATTAATATCC
2200
ATGGACACGT ATGCAAGGGC CGCTCGTGCC AGTATTATGC GCCATCTTTG
2250
CTCTTT
T
ATT GCAAAGCAAA AGTGTTTATT AATAATTGGG GGCAGGGTGG
2300 |
var(2257):[C:0.02]
GGGCGGGGAG CGGCCGCCGG GCGCTGGGGC CGCAGCTAAG GGCCGCGCGG
2350
CTGCCGGGAG CCCGCGGGAG GGGCGCAGGG ACGCGGCATG GGTAGTTTTG
2400
GGGGGACCCC GCTAGGGAAG GGGGGGCCTT TGTTCAAGCA GCGAGTCCCG
2450
GGGCGCCCCG AACGGGCAGC CTGGGCCGGA GAGCACGGCG AGCTGCAAGG
2500
TCGCGTGGCC CCCAAGACGC CAGGGCTTGA TCCCCGTCTG CAGGGATATC
2550
GGCTTGGAGG ACCTTCTCCG AGCGAGCCGG GGGCCTGGGA GCACATTTTC
2600
AGACCTTCGG TGGGCGCCTG AGGGGCCCGC AAGTATTTTA AAATAATTTT
2650
TGAAAGTGCG GCGTGGTGCC CTTGCGAGAG GGAAACGCCG CCCGCGCCCA
2700
GGGGGAAGGG GGGGCCCCGG AGTTTGAATT CCTGGGGCTC CCCCCGGAGC
2750
CTGTAACGAA CTCCCAACCC CCGGCCTGGG TAAAGGGTCG CCCGAGGGTC
2800
ATTTTCAGGG TTTTTTTATG CACTTAGTTA TTTTTTTAAT ATTTTTAAAT
2850
ATTTTTTGAA AAGATGACGT CTGGGGAAAT GCGGCGCGGC GGCCTGGGAC
2900
GCCACCTTTG TGTCTCGCAG GCGCGGCGCC CAACCCCGCG GCCCGTTCCG
2950
CGGCCCCGCA CCCCAGTTGG TGTCGACCCC CAGTCAGAGG GACCACGGAG
3000
CTCCAGGGCG GGCCAGGGTC CCGGGGGCCG GCAGCCCGCG CCGCCGCGCA
3050
CGC
C
GCCCAG CTGTGCCCGC TCCCGCCCCC ACCGTGCCAG CCTCGCGGGG
3100 |
var(3054):[T:0.13]
ACTTTCCCTT TCAGTTTCGG GGAGGGTGGG TACTGGGGAC GCGCGGGGGA
3150
GGGGGCGCAT CACGGGAAGC TCCTGCCGCC CCCAGCCCCG ACCCCTCGGC
3200
GCCCTCCAGA CCTGGCGGCC CTGCCAAGCG CGATGGGGGG TGCGGGGGCG
3250
TGCGGGGGGG CGGCGCGACC TGGCGGCGGC GGTCACGGGC CCCGTGCCTC
3300
CGTAG
G
T
C
T
G
C
G
A
G
G
A
A
C
A
G
A
A
G
T
G
C
G
A
G
G
A
G
G
A
G
G
T
C
T
T
C
C
C
G
C
T
G
G
C
C
3350 | Exon 2
V C E E Q K C E E E V F P L A 81
A
T
G
A
A
C
T
A
C
C
T
G
G
A
C
C
G
C
T
T
C
C
T
G
T
C
G
C
T
G
G
A
G
C
C
C
G
T
G
A
A
A
A
A
G
A
G
C
C
G
3400
M N Y L D R F L S L E P V K K S R 98
C
C
T
G
C
A
G
C
T
G
C
T
G
G
G
G
G
C
C
A
C
T
T
G
C
A
T
G
T
T
C
G
T
G
G
C
C
T
C
T
A
A
G
A
T
G
A
A
G
G
3450
L Q L L G A T C M F V A S K M K 114
A
G
A
C
C
A
T
C
C
C
C
C
T
G
A
C
G
G
C
C
G
A
G
A
A
G
C
T
G
T
G
C
A
T
C
T
A
C
A
C
C
G
A
C
A
A
C
T
C
C
3500
E T I P L T A E K L C I Y T D N S 131
A
T
C
C
G
G
C
C
C
G
A
G
G
A
G
C
T
G
C
T
G
GTAACCACT GGACCCCGC
C
GCCCCCCGCC
3550 |
var(3540):[G:0.01]
I R P E E L L 138
CCCCG
C
C
C
C
C
C
G
GAGCCGCA CGCAGGACCA CGGGGCCGGG GAAGGTGCAG
3600 |
var(3556):[-:0.99]
GCGGTGGCGG CCGGCCCGCC TCTGACATAT CTGCTCCTCC GAGGGAGGGC
3650
GGCCCCGCCG CCGGGCGTCC CTGTCCGGGG AGCGGGCGGG ATCCTAGCCG
3700
CCCTCGTCCC GCCGCCCTGT GTGCGCTTGC CTGCGACTCC CACCGCGTTC
3750
GCGCCCCGCG GTGTGGCCGA AAAGTGGGCG GCGCGCGCCC TCCAGCGGCT
3800
GCACGAGGAG CGCCGCGCTC GGCGCTGAGC CTCCAGTTCC AGGTGGTGGG
3850
AGGTCTTTTT GTTTCCACTT GCAGAGTCTT TTCACGCGGC GGGCGCCTTT
3900
TCTGTTTTGA TCTGGGATTG CGTGTTGCCC CAGCTCCCTT GAGTCCCCAG
3950
CATTCGCCAG CCCTCCCCTC CAACATCCAG GACCGCACGA GACGCAGGGG
4000
CCAGTGCTCT GAGCCGGAGG TGCGGCGTGG CCCGGCCCCC GTGCTGCCGG
4050
CTTCCCCGCG CCCCCGGGCT GGCCCGCACC TCCCCTGATG GCCGCTCACC
4100
CTGTGTTCGC AG
C
A
A
A
T
G
G
A
G
C
T
G
C
T
C
C
T
G
G
T
G
A
A
C
A
A
G
C
T
C
A
A
G
T
G
G
A
A
4150 | Exon 3
Q M E L L L V N K L K W N 151
C
C
T
G
G
C
C
G
C
A
A
T
G
A
C
C
C
C
G
C
A
C
G
A
T
T
T
C
A
T
T
G
A
A
C
A
C
T
T
C
C
T
C
T
C
C
A
A
A
A
4200
L A A M T P H D F I E H F L S K 167
T
G
C
C
A
G
A
G
G
C
G
G
A
G
G
A
G
A
A
C
A
A
A
C
A
G
A
T
C
A
T
C
C
G
C
A
A
A
C
A
C
G
C
G
C
A
G
A
C
C
4250
M P E A E E N K Q I I R K H A Q T 184
T
T
C
G
T
T
G
C
C
C
T
C
T
G
T
G
C
C
A
C
A
G
GTAGGGCA GGCC
C
GGCAG CCCCCGGCCT
4300 |
var(4285):[T:0.01]
F V A L C A T 191
CCCCTTGAGA GCCGGCTCCT TAGGTGACCC TGGCCGGCTT CTTGCTCTCC
4350
ACCTGGGTGC TGT
C
TGGGAA GATGTCCCCA GACCCCCTCC TGCGCTGGAG
4400 |
var(4364):[T:0.01]
AGCGCTCTTC CAGCTCTGGT GAGCAGAGGC CCTGGATTGT TTGTCGCGCT
4450
GGATGGAGGG AGATTTGCTC CCTCACGGCC ACCATGCAGT ACCTTGGGCA
4500
TTGGTGTGGA CGGCTCAGCC TGCC
T
G
TGTC CCGTTACTCT GGCCTCGT
C
C
4550 |
var(4525):[C:0.04]
|
var(4526):[A:0.04]
|
var(4549):[G:0.07]
TTCAGGCC
A
G GCAGCCTGTG GCCACTCCAT GCTGAAAGGG GTTTACCTTG
4600 |
var(4559):[G:0.02]
GCCACAGGGC CGCCTC
C
TTT CTCCACCCAC CTCCAGCCCT TCTTGTGTCC
4650 |
var(4617):[G:0.04]
TTAAGGAGCC T
G
AGCTGCAG AGGCCCCCTC CTGGCCTCTC CCAGGCTGGG
4700 |
var(4662):[A:0.04]
CCACCTGCCA GAGGCGCCTC CAGGGGCGGG GAGAGCTGTC GGCCTGCCTG
4750
CACCACGTGC TCTGGGCAGC CGAGTGCAGG GGTGTCCAGC AGAGGAGCTC
4800
GGCTGCCTGA GGCCCTGCCA GGGGTGCCGG CAGCCAGCCG GGCTCAGCTG
4850
AGCCCTGAGG GGGCGCTTCA GAGCACTCTC AGCTTGGGCC GCCACCGTGG
4900
GCAGCAGAAG CACCCAGTCC TCA
C
TTCCCC TGGCATGGCC CCAGAGGCCC
4950 |
var(4924):[G:0.01]
CTCCCTGACA TGGCCTTGGC CCCAGAACCC AGTGGGGACA GACTCGCACA
5000
TACACAGGGT GCCGCCTCCT GCTGTCCCCA GCCCTGCCTC TGACCCCCCT
5050
GTGACCGCCT CCTTCCCTGG CCCAGGAGGC CTGGTTACCT TCATGGGGGA
5100
GCATGGCCCC ATCCCACCCA GCTCTGCTGT GGCCCACCTT TGGTCAAGCC
5150
TCAGTTGTCA CATCTGTTTG GGGGCTCACT CTGGGTGACC TAGGCCACAA
5200
GGCCCACGGG GCATCAAAGA GGCAGTAGCA TCTTCTCCCC TCCCCAGAGG
5250
GCAGAGCCCC CCAAGCCTAC TTCAGAGCTC CCTTCTGACA CCGGTAGCCC
5300
GCAGCCGGTA TTCCAGAATG GGTTCTGGTT TAGGCGTGAG GCCTCCCCCA
5350
CCTCCTCCAC CTGCTTGGGG CATGAACCCC TCCCCCACGT TTCCAAGCGA
5400
GTCCCCAAGG TGGGCAGATG AAGATGCCAA GGATGTCGAC CAGTCTGGAT
5450
GGGTCTGGGG TGGGGGGGCA TGCGGCAGAC AGGGAGGCAT TCTCTGGCTG
5500
GTGCTCCTCA GAGGAGAGAG GCCTCCGGAG ACTCCAGACA GCCTTTTATG
5550
GAGCTGAAAG TGGCTTCAGA GAAATGCAAA GTTTCCTGGA GAGAACGTGG
5600
GGCGTGGTTC TTGCACAGCC TCCCTACAGG GTGGCTCCAG CAGTGGAGCT
5650
CCCCTCCCAG GACCCCTGGG TGCTAGTGGG AGGCAGTGGG CAGGTGCAGA
5700
TTCTCGTCCT TCCCACTACT GCACACCCTT TGTCTGCGAA GGCGCCCCCA
5750
GCGGTGGGTG AAGGAGGAGG GACACTTGGG GACCCAGCTG TGCACGTGCT
5800
CTCAGTGACT GTGGAGTCCA CTCCAGGGTG GGTCCCGAGG GAGGGGCAGG
5850
AGACCAGGGG ACCCACCCCT GCAAAGTGCT CCGGGTCCTG ACCCGTGGCC
5900
ACCCCATGGA ACGTAACTGA GCAGCCAGTG CCTTGTTCCT GCTGGACATC
5950
TGTGGAGACA AGAGTGACTT ACGGCTGCTT AAAGTCAGAA ACAGGTTGAA
6000
GGAGGTGGAG GCGTGGGAAA GAGTCTAGGA AGGTGTTTTT GCCCTCCACG
6050
TGGCAAAGGT TACATTTAAA GGTGATGCTG GGTGTTCTCC CT
G
CACTAGG
6100 |
var(6093):[A:0.03]
CATTCCTGGC CCCAGGTCCC CAGCAGGTGT GCACATGCTG CATACACTCA
6150
CGCATGGGGG TTTCAGGGCA GGTGCGCCCT TGGCTCCGTG GGAGGCCAGG
6200
TGAGGAACGT CCAGTGCCAA GGAGCTTCCG GGACAGCTGT CACTTCCCTT
6250
TACAACCAGG CAGCGGATAG GGTCAAATCC TGGAGCTTTG GTGTCTAATT
6300
CTGGGTGGCT CCTAATCTAA GCACAGACAG CACCACACAC TGGGGTGGGG
6350
GCACGAGCTT CTGAAACAAC GTGGCCCCAG TGACTCCACG CTGTGTGTGC
6400
CCCTGGAGAC GGGGGGGTGC ACAAGGTGCG GAGCCAGCTA GAACCTGTCG
6450
CTCCCTGCAG AAGCGGTTTC TGTGTGCGGT TCTGATTTGC CTCAATGAGA
6500
AGGTTTTCAT TCATGGCTCC CGGCTCTCAG ACTGGGTGGA ACTGCTCCCA
6550
TTTAAAGGGG AAAAGAGGTG GCTCGGCTCG TTAAGGATTT CTTTTTCTAA
6600
GTTGTTACGG CGCCCAGCAG CCGGCTTTGT CTCCCCTTCA GGGTGGCTGC
6650
CTTTCTTCCC GGCCCCTCGC CGGCGGCCCT CTCTTTAACA AGGC
C
GAAGT
6700 |
var(6695):[T:0.03]
TGTTTATTCT CT
C
GGGATGA AGTCT
C
GGAT GGGCCGCCAC ACCCCTGGCG
6750 |
var(6713):[A:0.01]
|
var(6726):[T:0.01]
GCCCGTGGGG GCCCCTCTCC CTTTGTGCCT GGGTCGGCTC CCATTCAGCT
6800
CCCCCGACCC CCCTTGTTCC CGGGCGCTCA GTGGCGCGAG ATGAGGCGAT
6850
GGGGCCGACA AAGATGCCAC ACTCATCCCT GCCGAC
G
TCC GGCTCCCAGC
6900 |
var(6887):[C:0.46]
CCAGGGCCCC TGGTTCCTGT GCAGAATTCC TCGTGGGTGT GACAAAAGGC
6950
TGCCCCCAGG CTCCGCTGGG GTGGGGGCCA GGCCAAGAGG CACATCCCAC
7000
ACTGGCCCAC CTGTCCACGG TAGGCGCATG ACTGCCCTGA GGAGGGGAGG
7050
CCGGCATTCC CCGCCACAAA CCAGGACGTA ATTGGTGGCA GGGCTCTCTG
7100
TGGAAAGAGC CAGTCTGCTG TTTGTCTAGG AGGTCAGTCA CAGAGGCCCC
7150
GAGACGCCCA CTACTGCAGC CTGGCAGGCG GATGAGCCCA GTATCTGGCA
7200
GTGACCAGAG GGAGTTTTGT GCAGACCACA AAGGCTGATG GGC
C
GCCCTA
7250 |
var(7244):[T:0.44]
GATTGGTGTC CCTCTTGGAA GTGGGCCCAG ATGTGCGGGA CAGTCCCCAG
7300
GAAGCCCCAG GTGAGGGCAC TGGTGCCCTC TTGGGAAAGC TGCTCCCTCC
7350
TGGGGCCCGG CTCCCGGCCC AGTCCTCCAG GGGTGTCCCA TGGTGACTGG
7400
TGCTAGGAAC CCCACACCTC TTCCCTTACT TGGGAAGTCA CTGGAATTG
T
7450 |
var(7450):[C:0.01]
TGGGCTACAT CAGACGGCCC AGAAAAGTGT TTTTGTCATC GGCCAGAAAT
7500
AG
G
A
G
AGTTG TGAGTAGAGG GCCCGGGTGG AGTTGGGGTG TACTTGGTCT
7550 |
var(7503):[-:0.01]
GTGCTCTGAA GGTCACTGTG ACAGTCATGG TCCCATGGTA AGGGGCATGG
7600
GT
T
GCTGGAA GAGCTCTTCC TTCCCGAGTG AGCCAAGCCG GGCTCTCCTG
7650 |
var(7603):[A:0.01]
GCGCCAGGGC CTGAGCCGCA GCCACACCAC AGCCGCCCTG AAGGCTGC
C
G
7700 |
var(7699):[G:0.01]
GCCAGGGCTT ACCC
C
TCAAG GGACACGGAA TGGCTTCATC AGTACCCTGC
7750 |
var(7715):[G:0.02]
AGCCCCGTGG CCTGGCCCGG GTGGAGGCCT AGGCTTCAGC CATGCGATGT
7800
CCCTTCAGAA TATGACTTGT CTGCAATCCC TGCTGCTGGG GGGTGGCAGG
7850
TACTTGGGGT GAGGGTTAGG GTCATAGAAG CGACATCTCT ACGTCCTCAT
7900
ATTTGCGTCA TCTAATTTTG TTTTTGTGAA TA
C
GTGATAA CATTCACAAG
7950 |
var(7933):[T:0.01]
GCTCAAGATG CTAAAAGGAT GAGAAGGCAG TGATGTCCCC ATCACCTGTC
8000
CTGTGTCTTC CCGTGGCTTT CTCTTTCCTT GGTTATGTTT GAGTCAACAG
8050
TGGGGCTGAC GTTCCAGGAG GGTCCGTGGG CCAGGCTCTT GCTCTCCGAG
8100
TGCCCAGGGA TGGCTGGAGG CTGAGGAGGG CCTGGATGTG GAGCCTCAGA
8150
TACC
G
AGTGC TTCCCTTCAG GCCGGGCCGC TTGCTCAGAG CCAGCACACA
8200 |
var(8155):[A:0.44]
GGGATGCCCG GATCACGGGG GCCCTGAGAG GGTCCCCTGC TCACAGCCTC
8250
CTTCCCTCTC TCCTTCTGCC TCAG
A
T
G
T
G
A
A
G
T
T
C
A
T
T
T
C
C
A
A
T
C
C
G
C
C
C
8300 | Exon 4
D V K F I S N P P 200
T
C
C
A
T
G
G
T
G
G
C
A
G
C
G
G
G
G
A
G
C
G
T
G
G
T
G
G
C
C
G
C
A
G
T
G
C
A
A
G
G
C
C
T
G
A
A
C
C
T
8350
S M V A A G S V V A A V Q G L N L 217
G
A
G
G
A
G
C
C
C
C
A
A
C
A
A
C
T
T
C
C
T
G
T
C
C
T
A
C
T
A
C
C
G
C
C
T
C
A
C
A
C
G
C
T
T
C
C
T
C
T
8400 |
var(8369):[T:0.04]
R S P N N F L S Y Y R L T R F L 233
C
C
A
G
A
G
T
G
A
T
C
A
A
G
T
G
T
G
A
C
C
C
G
GTAAGTG AGGGTGATGT CCCAGGCAGC
8450 |
var(8423):[A:0.40]
S R V I K C D P 241
CTTGCCGGGG CTTACAGGGG GAGACACCTA GTGCCACGGA AATGCCGAGG
8500
CTGGTGCCAA GGCCCCCAAG GGTGACAAGG TTGGGGCTGG GGCTGGGCCC
8550
CTCGGACCCC AGGCCACAGA CTGACAGGGC ACCGGCTTCT TCCACTGCTC
8600
CTAGAACTTA CTGACTGGCT GGGAGGTCCT CACAGCCTTC TCACGTCCCC
8650
TGGGGCTTCC AGGAGCCGTA GAGTTTCTGG GCGAAGCGTC CGGGACGGAG
8700
GCCCCAGGCG GCCCCAGCCA ATGGTCTGTG TGGTGATGGT GTGTGGGGTT
8750
AGGCCCAGGC GAGCTTTGTT TGGGCCACAA TGTGC
G
TGGC CAATAAATAG
8800 |
var(8786):[A:0.07]
ATGCTTGAAA AGGGCTCCTG TGAGGTCCGA GACACCGGAC AAC
G
GGCGGA
8850 |
var(8844):[A:0.01]
TAGAGACAGC C
T
T
G
TTGTTT ACGGCCTCTT TGAGAGGCTG CTGCTGTTAA
8900 |
var(8862):[-:0.01]
ACCCTGGGAT GACTGTGTCT TTCTTCTTAA AAATGCCATT GTTTTATTCC
8950
C
G
AGTCTTTT CTTAAAGAAA GAATTAAAAT GACAATCAAA AGG
G
TTTGTG
9000 |
var(8952):[A:0.01]
|
var(8994):[-:0.51]
GCATTTACCA AATTAGACCA GAGAGGTGGC CGGGTCAGCC GCCGGCCCCG
9050
CGGTGTGTGA GGGAGTGACC GCCTGACCCC AGCTTGGGGC TGGGTGGGCC
9100
TGCAAGACCC GTTTTGGCTC TGGCCTGGGC CGCCTCTTGG TGGTCTGCCC
9150
TCGAGCCTCC CGGGGACTCC GCACGGGTCT CAGCAGATGC T
A
TCTAGGGT
9200 |
var(9192):[G:0.04]
CCACCTGCCT GTCCCCTGCC TAGTGGTGCC TCTGTCCCGG GGACACTGGG
9250
AGTAGCGGCT GCCCAGCCCA TGTGTGTCTC GGAAGAGGAA GAAGCTTTTT
9300
TGCCGTGGGA CACCGAAGTT GGCAGGGGCC TCCCTTCTGT GTTCTCGGCC
9350
ATGGCCTCCC TTGCACCCTG CCCCGTGTTA TCCTTTGGGG GTGGTGAGGT
9400
GTCCTCACCC GCTGTAGGGT GGAGGCCAGC AGCCCGCAGC TCTCTCAGGA
9450
AAATGGCTCA GAAACACCAT CGAGGCCTCC AGAAGCCCAG CAAAGAGAAA
9500
GCCCCTCCAT CAAAATGAAA CTCGCGTCTG CACTTTTCAT TTCGAACTCC
9550
ACGCCCTGAG TGAAAACCGC TTCCC
C
GCCA GGGGTGACTG CCCTGGGATG
9600 |
var(9576):[T:0.01]
TTGCTGTCTT CGGGCAGTTG TGGGAAGTTG GGCGCTGGCC CTTATTTGAG
9650
TAGAGACCAT CTTAACTAGA TTGGAGGCAC ACGTCTCACA GCTGACAGAC
9700
ACACGGGGTG AAGTTACCCG AGGCGGAGTC CACTCTGCCT GATCAGCTAG
9750
TGACCAACGT AGCTGAGCCC AGACTCAGAA AAACCGTCCA CAGCAGAGGC
9800
CCCTGCATTT TCTAGGGCGT GTTCTAGAAT TTTCTTTGGT GGGTGGAATG
9850
TCCATCTGTG CAAATC
G
GGT GC
G
CAGTGCC ACACACCAGT GACTTTT
C
GC
9900 |
var(9867):[A:0.01]
|
var(9873):[A:0.01]
|
var(9898):[T:0.02]
GGAGGAGCGT GCTGCCTTTT TGGAGCTTCT GGCTGTGGGA GAACAGCTTT
9950
GTCCACCGGG GTAGCCTTGC AGGCAGCTGT GGGGCCAGAG GAATGAAGGA
10000
AGGTCCTGGA GTCTAGCTGC ATGTGTGACC CTGGAGTGGG TCATGGGCGA
10050
GGGACGGGCC GCAGGTGAAG AATCCCTGGA TGGAGCTGCC AGGCCCCTGG
10100
GGCTGAGAAT TGAAGCTGGC TGGTGTTTTA GGTTGAACGT CAGGAGTCTT
10150
GTATC
T
C
A
C
C
C
C
A
G
G
C
C
T
C
T
G
G
C
C
T
C
A
G
T
T
T
C
C
C
C
A
T
C
T
G
T
A
C
A
G
T
G
G
G
A
10200 |
REPEAT
CTGTTTGTGC AGCCAGCCCG GCCAGCTTCA TTTGCCATGA TGAGAATTTA
10250
TCTGAGGGGC GGGAGAGGAA AGCCCTCCCT ATAAAGGTAC AGGCGCTAAA
10300
ATGTC
A
TGAC CTCAGTGGTC CACCTAAAAG TCGTTCTGGC CTGGGTCATC
10350 |
var(10306):[G:0.48]
GCCTGTCGTG CTATGCCTTT GTCCAGCCCC TTCTGGTTGG GAGTTAAGTG
10400
GCACCTGTG
C
GGCACGTGGT GGGGCTGTGG CCCAGCCCTG CTCCTTGTGG
10450 |
var(10410):[T:0.01]
AAGGTCTGTT TCCTGGGCTG CCTAGAGACT TGGCTTGAAG CCCTAG
C
GTG
10500 |
var(10497):[T:0.01]
GCTTCCTGGC AGTTGGGACA CACACAGCCC CAACACATGG AGCCGGTTCT
10550
CCATCCAGAA GCCCCCGGGC AGTAAGCAGC CACTTCAGGC TGCGTGGGAC
10600
TTGCC
C
G
TGG TGGAGCCTAG GAGAGGCCCC TGGCTGGGCG TGGCGTTCCA
10650 |
var(10606):[T:0.01]
|
var(10607):[A:0.01]
GATTTCACGG CTGCTCTTTC CCACTGACAG TGTGGTGTGG ACGCTGCCAA
10700
GGGAGTCTGG AGCCCCAGAG GGTGGAGGTG CAGGACTTCC AGGAGCGTCC
10750
GTCGCACTCC ACCCGAGGGC GAGCACCTCA GTGGCCGCAG TGGGTGGATG
10800
CATGCTGTGC CAGGCTGATG GCTGGCCCCG GGGCACAGGC CTGAGCGG
G
A
10850 |
var(10849):[A:0.01]
GAGGATGGAG GGGAGGGATC AATGGTCCAG GTCCCCCTGG CCACCCAGCA
10900
TTCATCCTCA GTCATGCA
C
G GCCC
A
AGGCT TCGACAGCCA TTGATCATGG
10950 |
var(10919):[T:0.01]
|
var(10925):[G:0.01]
AAGGCCAGGT TCACCTCAAG GGCTGCCACA TGGAGAGGTT AAGTCTGAAA
11000
AGGCTGAAAA GGCAGGGTT
A
AAAGGGCCTC CTGTCCAGAT CAGATGGCAC
11050 |
var(11020):[C:0.42]
TGAATTCCCC AGGGAGCTGG CACGGCCAGT GGGAACAGGC GGTGAAGGCG
11100
CTGTTGGACA TGGGGACGGG CAGGGGGTGT GCAGGGTGGG CGGGCAAGCA
11150
TCTGGTGTCT TGTGGCTCCA GAGACCAGGT GGGAGGTGGA GGC
G
TTTGGT
11200 |
var(11194):[A:0.36]
CCTGAGTGTC CTGACAGGTG ATGGCAGCTC CCACATCTCG CTCAGGTTCA
11250
GAGGAGGCAG CATGGGCCGA GGGACAGTTT TTGGCTTAGT CTTGCTCTTA
11300
TAAAGGCTTC CGGGTCATGG CACCTGGGAA GGGGCCCTCG CTGCAGGCCC
11350
CTTCTAAGGA CCCCCTCTTC CC
A
CCTCTCC CCACCCTCTC TCTCTCAG
G
A
11400 |
var(11373):[G:0.14]
| Exon 5
D 242
C
T
G
C
C
T
C
C
G
G
G
C
C
T
G
C
C
A
G
G
A
G
C
A
G
A
T
C
G
A
A
G
C
C
C
T
G
C
T
G
G
A
G
T
C
A
A
G
C
C
11450
C L R A C Q E Q I E A L L E S S 258
T
G
C
G
C
C
A
G
G
C
C
C
A
G
C
A
G
A
A
C
A
T
G
G
A
C
C
C
C
A
A
G
G
C
C
G
C
C
G
A
G
G
A
G
G
A
G
G
A
A
11500
L R Q A Q Q N M D P K A A E E E E 275
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
T
G
G
A
C
C
T
G
G
C
T
T
G
C
A
C
A
C
C
C
A
C
C
G
A
C
G
T
G
C
G
G
G
A
11550
E E E E E V D L A C T P T D V R D 292
C
G
T
G
G
A
C
A
T
C
T
G
A
G
G
G
C
G
C
C
A
G
G
C
A
G
G
C
G
G
G
C
G
C
C
A
C
C
G
C
C
A
C
C
C
G
C
A
G
C
11600 |
UTR
V D I 295
G
A
G
G
G
C
G
G
A
G
C
C
G
G
C
C
C
C
A
G
G
T
G
C
T
C
C
C
C
T
G
A
C
A
G
T
C
C
C
T
C
C
T
C
T
C
C
G
G
A
11650 |
var(11628):[A:0.46]
G
C
A
T
T
T
T
G
A
T
A
C
C
A
G
A
A
G
G
G
A
A
A
G
C
T
T
C
A
T
T
C
T
C
C
T
T
G
T
T
G
T
T
G
G
T
T
G
T
T
11700
T
T
T
T
C
C
T
T
T
G
C
T
C
T
T
T
C
C
C
C
C
T
T
C
C
A
T
C
T
C
T
G
A
C
T
T
A
A
G
C
A
A
A
A
G
A
A
A
A
A
11750
G
A
T
T
A
C
C
C
A
A
A
A
A
C
T
G
T
C
T
T
T
A
A
A
A
G
A
G
A
G
A
G
A
G
A
G
A
A
A
A
A
A
A
A
A
A
T
A
G
T
11800
A
T
T
T
G
C
A
T
A
A
C
C
C
T
G
A
G
C
G
G
T
G
G
G
G
G
A
G
G
A
G
G
G
T
T
G
T
G
C
T
A
C
A
G
A
T
G
A
T
A
11850
G
A
G
G
A
T
T
T
T
A
T
A
C
C
C
C
A
A
T
A
A
T
C
A
A
C
T
C
G
T
T
T
T
T
A
T
A
T
T
A
A
T
G
T
A
C
T
T
G
T
11900
T
T
C
T
C
T
G
T
T
G
T
A
A
G
A
A
T
A
G
G
C
A
T
T
A
A
C
A
C
A
A
A
G
G
A
G
G
C
G
T
C
T
C
G
G
G
A
G
A
G
11950
G
A
T
T
A
G
G
T
T
C
C
A
T
C
C
T
T
T
A
C
G
T
G
T
T
T
A
A
A
A
A
A
A
A
G
C
A
T
A
A
A
A
A
C
A
T
T
T
T
A
12000
A
A
A
A
C
A
T
A
G
A
A
A
A
A
T
T
C
A
G
C
A
A
A
C
C
A
T
T
T
T
T
A
A
A
G
T
A
G
A
A
G
A
G
G
G
T
T
T
T
A
12050
G
G
T
A
G
A
A
A
A
A
C
A
T
A
T
T
C
T
T
G
T
G
C
T
T
T
T
C
C
T
G
A
T
A
A
A
G
C
A
C
A
G
C
T
G
T
A
G
T
G
12100
G
G
G
T
T
C
T
A
G
G
C
A
T
C
T
C
T
G
T
A
C
T
T
T
G
C
T
T
G
C
T
C
A
T
A
T
G
C
A
T
G
T
A
G
T
C
A
C
T
T
12150
T
A
T
A
A
G
T
C
A
T
T
G
T
A
T
G
T
T
A
T
T
A
T
A
T
T
C
C
G
T
A
G
G
T
A
G
A
T
G
T
G
T
A
A
C
C
T
C
T
T
12200
C
A
C
C
T
T
A
T
T
C
A
T
G
G