MMP12 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
TGACTCAAGC ATCTTTGAAC TGACTTTGAC TTTG
C
A
G
C
C
T
G
G
T
T
T
A
A
T
G
G
50 |
REPEAT
A
A
G
C
A
G
A
A
A
G
G
C
T
T
T
G
G
A
A
A
C
A
G
A
C
T
T
G
G
C
C
T
C
A
A
A
C
C
T
C
A
G
C
T
A
T
G
C
C
A
100
C
C
T
A
C
T
A
G
T
T
G
T
G
T
G
G
C
T
T
T
G
G
A
T
A
A
G
T
T
A
A
G
T
T
C
A
G
T
T
T
C
C
T
C
A
T
C
C
A
T
150
A
A
A
T
G
A
C
T
A
C
T
G
T
G
A
G
G
A
T
T
A
A
A
T
A
A
G
A
T
G
G
T
G
C
A
T
G
A
A
A
C
T
G
C
T
GGCAG
200 |
var(167):[A:0.01]
CTGTTAAAGC CTCTCCATAA ATTTTAGTTC TGTTTCCTTT ATAATACATA
250
GAT
C
A
G
G
G
T
T
T
C
T
C
A
A
C
A
T
T
T
A
T
T
A
C
T
A
T
T
C
C
T
G
A
T
A
A
A
G
A
G
G
C
T
T
T
G
T
A
300 |
REPEAT
G
A
C
A
C
T
T
T
A
A
A
G
A
T
T
T
C
C
C
C
C
C
A
T
A
C
A
A
A
T
T
T
A
A
T
A
G
C
A
G
A
C
A
T
A
A
A
T
T
G
350 |
var(303):[T:0.04]
T
A
T
A
T
C
T
G
C
T
C
A
T
G
T
G
C
T
G
T
A
T
G
C
A
T
A
T
C
T
G
T
C
T
T
T
T
A
T
A
C
A
C
A
A
A
A
A
T
A
400
T
A
T
A
T
T
T
T
T
G
C
C
T
T
T
G
A
T
G
A
C
C
A
A
T
T
T
T
T
C
A
C
C
C
A
G
T
T
G
G
G
G
G
T
G
A
T
A
T
C
450
G
C
C
C
C
C
A
T
T
G
A
G
A
A
AGGACA TCTTAATGGA GTAGCCTGTA ATCTACACCA
500
CAAGATCAGT AAGTGACCCA TGACACCAGT GTCACCTGGT CTGATGTGGC
550
ATCTCACCAG AGGAT
T
GATA ACAATTTTCT GGAAAACATT TATAAAGCCA
600 |
var(566):[C:0.04]
AGTGATCTGG ATTTAGAGAT ACTATTTAGA TCACAGAAGG CAAGTCTGTT
650
AAACTTT
G
TG TCATTAAAAA GTGACATTCT CACAGCAGAA TAACCAGCTG
700 |
var(658):[T:0.02]
TATTTGTAGG TTAGATAGAC ACAGAGAAAA CAAATCAATG GCTAGAGAGA
750
GGAGAACAGA TCAGCAAGAA TCTGCATAGT TCTCTGCAAG AGTGAGGCAA
800
GATAATTTTT AAATTGGAAA ATTATTTTTT T
T
CTATATTT TTCTCCTTTT
850 |
var(832):[:0.88]
CTTTAAGCCT CACTCAAGCA GCCAGCAGAC TGTTTCCCAG GCCACTGAGG
900
TGGGTAAGAG CAATGGCTAA ATCTTAACAC ACTCTTACGT GCACCCTACC
950
GCACCATCCA GACCGTCCCC ATACAATCAG GAGGCAGCGA ACTTATGGTG
1000
TGATTTGAAG GGGTGTTGAG TAGAATCTAT CCTCACACCG CAGCACCACT
1050
GCTTGCAATT CTACCTTTGG AATTTTATTC CCTGACTTGT AAAAGTTTTT
1100
AGTGCTTAAA TATTCTCTAT TGAGTAAGAG ACAGATTCTG TGCAATGGGA
1150
CAATTAGGTC AAGAGGGAAA GAAGCTGAGG TGATAGGCAG ATAGATTCCA
1200
GAGGCAAACT TTTCCCATCT GCTAAAGTTG AAAAGAGTTA ACCCACATCC
1250
TACCAA
C
GCT AGACAATCTA GGATGTAGGG AAAGTTTGTC TCTGGAATCT
1300 |
var(1257):[T:0.01]
ATCCAGGTAC CCAGTTGGGA CTGAGCTTCA GCTTAGATGT CTGAAGATGT
1350
TAAGTTATAG AATCAGGATC TGAGCCGGTA CAACACGTGG AATAAACAAT
1400
GAAGTCGATG TTACAAATTT TTTTTTGCTA CATGTAAAAT CTCTGTATCA
1450
CATTTCTCTA GGGAGCTGGA TTCCGTTTAG AAAGCACTCA TTTACTCCAG
1500
GAAAAGGATT TTATTTAATC TTTCAACATT TACTTTAAAA ACTTTTTTTT
1550
ATCTATAATG AATATAAGGA AAGTATTATA ATGAAAATCA AGAATATCAG
1600
GCTTTAAGAA AAT
A
TATTTT AAGTTCTCCT TCTCTTTTAG TTGCTTGATA
1650 |
var(1614):[G:0.01]
TTTCTTTTAC AAGGGCTTAT TTTGTAGGAT AGGTGGACGT AGAGGCTTAT
1700
TTATCATTTT GAAGGTACAT ACTCTGAATT GCTTGAGTGA TGGACTAGAT
1750
GCTAATTGAT CCATTGTCGT CTGAATAAAG TCATGCTTTT GTTTGCATGT
1800
TTTTGAGATA GATCAAGGGA TGATATCAAC T
A
TGAGTCAC TCATAGGATT
1850 |
var(1832):[G:0.02]
CATATTCACA GAACCCGGAC TAAGGGCTAT ATAAAGAGGA ACAGTTCAGG
1900
AACTTAGGCT AGAAAGGAAC ACAGTAAACT GAATTGATCC GTT
T
A
G
A
A
G
T
1950 | Exon 1 |
UTR
T
T
A
C
A
A
T
G
A
A
G
T
T
T
C
T
T
C
T
A
A
T
A
C
T
G
C
T
C
C
T
G
C
A
G
G
C
C
A
C
T
G
C
T
T
C
T
G
G
A
2000
M K F L L I L L L Q A T A S G 15
G
C
T
C
T
T
C
C
C
C
T
G
A
A
C
A
G
C
T
C
T
A
C
A
A
G
C
C
T
G
G
A
A
A
A
A
A
A
T
A
A
T
G
T
G
C
T
A
T
T
2050
A L P L N S S T S L E K N N V L F 32
T
G
G
T
G
A
A
GTA AGTATGGACA CTACAGTATT TATCGAGCTT GATGTTTGTC
2100
G E 34
TTTAAGATTT AATTGCATTA ACCAGTTTGT TTGTTTGTTT GTTTGTTTG
T
2150 |
var(2150):[:0.22]
T
T
G
CTTTTAC GTATCAGCTG AAAATTGGTC TAGGAGGCTG TCTGCTTTCA
2200
GTATTAAGTT TTACTTTGTC AAAGAGGAAT ATAAAAAAGA GGTATTGGTT
2250
TTGAAGGACT GTTATGAAAT TGGCAAGTGA ACTTGTTTCT TCTTCTAAAA
2300
ACCTTTGGCC AAGAAATTTC CATTCAATAT AATTGGAGTT CACTTCTGTT
2350
ATGGTATTTT ACACTAATCA TTAAATGCCA GTTAATAATC TGAGATCTGA
2400
ACAATGGCAG GATTAATATA ACCACTTCAG GCTGCCATGA TAATTTAAGC
2450
ATATTCCCTT TACCCTCAGT CATCTCAGTT ATATCTTTAC AG
C
T
T
T
T
C
T
T
2500 |
var(2493):[G:0.11]
|
REPEAT
T
T
T
C
T
T
T
T
T
T
A
T
G
G
A
G
A
T
G
G
G
G
T
T
C
C
A
C
T
A
T
G
T
T
G
C
C
C
A
G
G
C
T
C
G
T
C
T
G
T
2550
A
A
C
T
T
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
A
T
A
G
G
A
2600
T
T
A
C
A
G
G
C
G
G
G
A
G
C
C
A
C
C
A
T
G
C
C
A
G
G
C
C
CC ATCTTTATAG CATTCTTTAT
2650
GGATTTTTTT CAATTCTTAA ATTCTTTTCC TTAATTAAAA GAGTTTGGTC
2700
TCCCTATTTT CTAAGATGAT TTTAACATTG AATTTATCAT AGTTATCCAT
2750
TTTGTTTAGC TTTGAGTTTT TAAGCAAGAA ATTTGTGTCC CAACTTATAT
2800
TAATAACATT AATAATTCAT GTATCCTTTT GTTTTC
T
T
T
T
C
T
T
T
T
T
C
T
T
T
2850 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
T
T
T
A
C
T
C
T
G
A
C
A
C
C
C
A
G
G
C
T
A
C
A
G
T
G
2900 |
NOT SCANNED
C
A
G
T
G
G
C
A
C
C
A
T
C
T
T
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
T
C
T
C
C
T
G
G
G
T
T
C
A
G
G
T
G
2950
A
T
C
C
T
A
C
T
G
A
C
T
C
A
T
C
T
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
3000
C
A
C
T
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
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
C
T
G
T
3050
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
T
G
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
T
C
C
A
C
C
C
T
G
G
3100
C
C
T
C
T
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
C
G
G
T
A
T
G
C
A
C
C
A
C
T
G
T
G
G
C
C
A
G
C
C
TGGG
3150
TGACCAAGAG AAACTCCTCT GTCTTAAAAA TGAATAAATG A
C
GTTTTAAA
3200 |
var(3192):[A:0.01]
AAAGATACTT CCACTGGGAT TCCGGGAATA AATCTAGCTA ATAGTTTATG
3250
ACATGTCTTT GTT
T
T
T
T
T
G
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
C
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
3300 |
REPEAT
G
G
T
C
T
G
T
G
T
C
T
G
T
C
A
T
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
A
C
A
A
T
C
A
C
G
G
C
T
C
A
3350
C
T
G
C
A
G
C
T
T
C
T
A
C
C
T
C
C
C
A
A
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
T
C
A
C
C
T
C
A
G
C
C
T
C
C
T
3400
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
T
G
C
A
C
C
A
A
C
G
C
T
C
T
G
G
G
A
T
A
A
T
T
T
T
T
G
T
G
3450
T
T
T
T
T
T
G
T
A
C
A
G
A
G
G
A
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
T
C
C
A
G
G
C
T
A
G
T
C
T
T
G
A
A
C
T
3500 |
var(3473):[C:0.01]
C
C
T
G
G
G
C
T
C
A
A
G
A
A
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
A
A
T
G
C
T
G
G
G
A
T
T
A
3550 |
var(3536):[A:0.20]
C
A
G
G
C
C
T
G
A
G
C
T
A
C
T
G
C
T
C
C
T
G
G
C
T
GACAT GTCTTTGATA GCACAAAAAA
3600
TTAAGGTTTT TTTTCCTGAT TATAATTAAT TGTCCAAAAA ACAATAATCT
3650
AACCTGTGAG TAAGATGTGC AAAATTCCTG GTCCAAAAGC ATCAGTGTGC
3700
AATTGAGTCA TATATGTGGA GCTCCCAACA GAAATTTTCT GTGTGTACTT
3750
ACACATTGCT GAATGTATTT TTTTTTCCAG
A
G
A
T
A
C
T
T
A
G
A
A
A
A
A
T
T
T
T
A
3800 | Exon 2
R Y L E K F Y 41
T
G
G
C
C
T
T
G
A
G
A
T
A
A
A
C
A
A
A
C
T
T
C
C
A
G
T
G
A
C
A
A
A
A
A
T
G
A
A
A
T
A
T
A
G
T
G
G
A
A
3850
G L E I N K L P V T K M K Y S G 57
A
C
T
T
A
A
T
G
A
A
G
G
A
A
A
A
A
A
T
C
C
A
A
G
A
A
A
T
G
C
A
G
C
A
C
T
T
C
T
T
G
G
G
T
C
T
G
A
A
A
3900
N L M K E K I Q E M Q H F L G L K 74
G
T
G
A
C
C
G
G
G
C
A
A
C
T
G
G
A
C
A
C
A
T
C
T
A
C
C
C
T
G
G
A
G
A
T
G
A
T
G
C
A
C
G
C
A
C
C
T
C
G
3950
V T G Q L D T S T L E M M H A P R 91
A
T
G
T
G
G
A
G
T
C
C
C
C
G
A
T
G
T
C
C
A
T
C
A
T
T
T
C
A
G
G
G
A
A
A
T
G
C
C
A
G
G
G
G
G
G
C
C
C
G
4000
C G V P D V H H F R E M P G G P 107
T
A
T
G
G
A
G
G
A
A
A
C
A
T
T
A
T
A
T
C
A
C
C
T
A
C
A
G
GT AACGTTGGTG TATGTCGCC
C
4050 |
NOT SCANNED
V W R K H Y I T Y R 117
T
G
T
A
T
T
T
T
T
C
T
A
C
T
T
T
C
C
C
A
T
A
G
G
T
C
T
G
A
C
T
T
C
T
A
A
C
C
T
G
A
A
C
C
A
G
T
T
A
G
4100
A
C
A
G
C
C
C
T
A
A
A
T
C
T
G
G
A
A
G
T
A
G
A
T
A
A
A
G
T
A
A
C
C
T
C
C
C
T
C
C
A
T
T
G
T
T
A
A
T
G
4150
C
T
A
T
C
T
C
T
G
C
T
A
A
A
A
T
T
C
A
T
T
T
T
C
T
C
T
A
G
A
A
G
G
A
A
G
A
A
T
T
G
T
T
C
A
C
T
C
A
G
4200
G
G
G
A
G
A
A
T
T
G
T
T
T
G
G
C
T
T
G
C
C
A
G
T
C
CAAAG CAGATTTTAA AAGCTGCAAA
4250
TA
G
G
C
C
A
G
G
C
A
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
4300 |
REPEAT
A
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
G
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
4350
G
G
T
G
A
A
A
C
C
T
C
G
T
C
T
T
T
A
C
T
A
A
A
C
A
C
A
C
A
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
4400 |
var(4375):[T:0.01]
|
var(4396):[A:0.01]
G
G
C
G
C
G
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
4450
C
G
T
G
A
A
C
C
C
A
G
G
A
G
G
C
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
4500 |
var(4466):[T:0.02]
|
var(4467):[A:0.04]
C
T
C
C
A
G
C
C
T
A
A
G
T
A
A
C
A
A
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
G
A
A
A
A
A
A
4550
A
A
A
A
TCTGCA AATAAAAGG
A
GAATGAAGCT AAATTTACTA TAAATAAGAT
4600 |
var(4554):[:0.99]
|
var(4570):[G:0.01]
AATTTACTAT AAAGAAGAGA CAGGGAAGTT TATAGAGTAG TCAAGATGGA
4650
TAAATGCAGA ACCTGGGAGC AGGAGCAAAA AGCATAACCT TCTATGAAAG
4700
CAAATCCTTC ACAGTGATGA TCTGTGAGTT TTAAATAGGA AGAAATTAAG
4750
TTAGATTTTG GTTAAGGAGG AGGCTGTCCA AGAAAAAATG TTTCTG
T
AGT
4800 |
var(4797):[C:0.01]
TAATGAAGCA AGTTTTAAAA TCTGGACTCT TG
A
TTTATGA AATGATCCAT
4850 |
var(4833):[G:0.01]
TTTCCAATTG TG
C
TAGCAAA AATGAAGTAT TGTGGTAAGA CAAAATAACA
4900 |
var(4863):[A:0.02]
CTGCCTTCCA TACATTTTTC TCTCTCTTTT TGCTGATAAA G
A
A
T
C
A
A
T
A
A
4950 | Exon 3
I N N 120
T
T
A
C
A
C
A
C
C
T
G
A
C
A
T
G
A
A
C
C
G
T
G
A
G
G
A
T
G
T
T
G
A
C
T
A
C
G
C
A
A
T
C
C
G
G
A
A
A
G
5000
Y T P D M N R E D V D Y A I R K 136
C
T
T
T
C
C
A
A
G
T
A
T
G
G
A
G
T
A
A
T
G
T
T
A
C
C
C
C
C
T
T
G
A
A
A
T
T
C
A
G
C
A
A
G
A
T
T
A
A
C
5050
A F Q V W S N V T P L K F S K I N 153
A
C
A
G
G
C
A
T
G
G
C
T
G
A
C
A
T
T
T
T
G
G
T
G
G
T
T
T
T
T
G
C
C
C
G
T
G
G
A
G
GTAGGGAACT
5100
T G M A D I L V V F A R G 166
TGTATTTC
A
T CTTTGTCATT TGGCATGATC TATAGGATGT ATAGAAGGAC
5150 |
var(5109):[G:0.05]
TAATTTTCTT TCCTTTTCCA AAAG
C
T
C
A
T
G
G
A
G
A
C
T
T
C
C
A
T
G
C
T
T
T
T
G
A
T
5200 | Exon 4
A H G D F H A F D 175
G
G
C
A
A
A
G
G
T
G
G
A
A
T
C
C
T
A
G
C
C
C
A
T
G
C
T
T
T
T
G
G
A
C
C
T
G
G
A
T
C
T
G
G
C
A
T
T
G
G
5250
G K G G I L A H A F G P G S G I G 192
A
G
G
G
G
A
T
G
C
A
C
A
T
T
T
C
G
A
T
G
A
G
G
A
C
G
A
A
T
T
C
T
G
G
A
C
T
A
C
A
C
A
T
T
C
A
G
G
A
G
5300
G D A H F D E D E F W T T H S G 208
GTGGGCAAAA CAAACAAACA AACAAACAAA AAACTAAGCA AACAGGAAAG
5350
GAAAACAACA AAAACCCTAA CAAATTCAAA ATTCTGGTTT CGAGAGACTA
5400
CATTCTGACA AATGATTATA TGATGGAAAA TCTTGTTCTG ATTATAATTT
5450
TGCCTCTAAA TCAAATTTAA
C
A
C
T
T
C
G
T
A
T
G
G
G
T
C
T
C
A
A
T
T
T
T
A
C
T
C
T
C
T
5500 |
REPEAT
G
T
A
A
A
T
T
G
A
G
G
A
T
A
T
T
A
A
A
C
T
A
G
A
T
C
A
T
C
T
T
G
A
A
G
A
T
C
A
G
C
T
C
T
A
A
C
A
A
T
5550 |
var(5543):[G:0.01]
C
T
A
T
G
A
G
G
A
T
G
C
T
A
T
G
A
ACT ATGAGCTAGT TCATTAGCAT AAGCTCAGAG
5600
GAACCTTAAG AAGCATAATA TGAAAAGGTA AAAGCTGTTA ATTAGGTGGT
5650
AAG
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
A
G
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
T
T
A
G
G
C
T
G
G
C
A
T
C
5700 |
REPEAT
|
var(5656):[C:0.22]
|
var(5678):[C:0.17]
A
C
G
T
A
T
C
A
T
G
A
T
G
C
T
A
A
C
T
T
A
C
T
A
C
A
G
C
C
C
G
G
A
A
C
T
C
C
T
G
T
G
C
T
C
A
A
G
C
A
5750
A
A
C
C
T
C
C
C
A
C
T
T
C
A
A
C
C
T
C
C
C
T
A
G
T
A
G
C
T
A
G
G
A
C
C
A
C
A
G
G
T
G
T
G
C
G
C
T
A
C
5800 |
var(5764):[C:0.01]
C
C
A
C
C
C
G
G
C
T
A
A
T
T
T
T
T
T
A
A
T
T
T
T
T
T
A
T
A
G
G
G
A
C
A
G
G
A
T
C
T
T
G
C
T
A
T
G
T
T
5850
G
C
C
T
C
G
A
G
A
T
C
C
T
C
C
T
G
T
C
C
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
T
T
A
A
G
A
T
T
G
C
A
G
G
C
A
5900 |
NOT SCANNED
G
C
C
T
A
G
G
T
G
A
T
A
A
G
T
T
T
T
T
G
A
C
C
T
A
G
T
G
A
A
A
T
C
C
A
T
A
A
G
C
T
C
A
A
A
A
G
C
A
A
5950
A
C
A
C
A
T
A
C
T
A
A
T
T
C
T
G
T
G
T
G
T
G
C
C
A
A
C
A
A
T
T
A
G
A
G
G
A
T
A
A
G
A
T
G
G
T
C
A
T
C
6000
T
G
T
A
T
G
A
T
TC ATAATATGCT GACAATTTCT TAGATTCATA GTGAG
C
AAGA
6050 |
var(6046):[G:0.03]
AAGAAAAAGT TACAGAGAAT CTAAGCATCC CTATAGAGAA ACACAAGATT
6100
ATACAGCCAT GTACTTTCAT GTGGTCTTGG GATAAAAATT TCAGAATGCC
6150
CAACTGAACA TTTAATACCT TGGGGGCATT TACATAAGGA CTGTAACTTA
6200
CCATCCTCCT CAGATAGTTG ACATGGGGTT AATTAAACTC CCCTGTTATT
6250
TA
G
AGGAATC ACTAGCATGG GAAAACCCTA ACCATCATGA CAGAAGCCTT
6300 |
var(6253):[A:0.02]
CTTAATTTTT CTATTGGAAA TTTTAGATTC TATGACTCCC TCATGTGGAA
6350
AGTAAA
T
GAG GAGAAAGTCA TCAATAATAT TCTCTACTCA GCATCCTCCT
6400 |
var(6357):[:0.01]
CTCTAGCTGA TATTGCACAA GTTGGATGGC AATACTTTTA TAAATACTAT
6450
GTCCACCAGA AAGACTATT
T
GTTTTAGTCT AACACATAGC CTAAGGCTTA
6500 |
var(6470):[C:0.01]
TAAAGTTTTT GAAGAGAAGA GGACTTTTGT ATTGTCAAAA GACAGATCAT
6550
GTAGGATTAG GTAGTTGCTA AACTGCAAAT CCTCAGCCAG ACATGTTATA
6600
TGTGCCTAAA TTTTATCCAA GGTTATTTGG GGGATTGTAA TTCCTTC
A
TC
6650 |
var(6648):[G:0.03]
TAAAATGGGA TATGTGTGCT AGTTAGCCTC AAA
A
A
A
A
T
G
T
T
T
T
G
G
A
A
T
T
C
6700 |
REPEAT
T
A
A
T
A
G
A
C
C
T
T
A
G
A
A
G
A
G
T
A
A
T
T
T
A
A
T
A
C
A
G
C
T
T
T
C
T
G
T
A
G
G
T
A
G
A
G
G
A
A
6750
A
T
T
A
A
G
A
C
A
A
A
G
A
G
A
A
G
G
T
T
A
G
T
G
G
C
T
A
G
T
T
T
G
T
G
G
A
A
A
A
G
C
T
G
G
G
C
C
A
G
6800
A
A
T
A
T
G
C
A
T
T
C
C
T
A
C
C
T
C
T
C
A
A
C
C
C
A
G
T
A
T
T
T
T
C
T
A
T
C
T
G
T
C
C
A
TATTGC
6850
CTTATTTTTT AATTGGATTG ATTCAATGCT TTCAAAAAGT GAAGTTATTT
6900
ATGACAATTA TAACTTAAAA TGCTTATTTT CAGCCGTTTT TGTTGTTGTT
6950
GTTGTTGCTG TTATTTGC
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
7000 |
REPEAT
|
var(6996):[C:0.16]
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
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
T
C
G
C
C
T
C
C
A
7050
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
A
C
T
T
C
A
G
C
C
T
C
C
T
G
A
C
T
A
A
C
T
G
G
G
A
T
T
A
T
A
T
7100
T
A
C
A
G
G
T
G
C
T
G
G
C
C
A
C
C
A
C
G
C
C
C
T
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
G
C
A
G
7150
A
G
A
C
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
C
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
7200
G
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
T
G
G
T
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
T
G
T
G
A
G
7250
T
C
A
C
C
G
C
A
T
C
C
A
G
C
C
TCAGC CTGTTTTCTT TTACCCAGTA AATCAAATAA
7300
ACAAATAGGT CAATGTTTGC TGACCTATTC TATTATGGTA TTGGGTGATG
7350
AGGTTACTTG AGTACAGAGA TGAAAAGTAC ACA
A
TTCAAC CCCTGAGCAC
7400 |
var(7384):[G:0.01]
GCAATCTAGT GAGAAACAGA ATACAAACAT AAACCCATTA TTTCCAGATG
7450
AGGATCAGTG GTGGTGGCTC ATAGGCATAT TATAGGAATT GAGAATA
G
TT
7500 |
var(7498):[A:0.03]
CAGGTTTAGG ATAAATTGTA AAAACTTTGC TTACTCTTCC CAGTCTTGCT
7550
GGGAAGGTTA CTGGACCCAT GATACAGAAA ATTCTTGATT TGTGTCTAGA
7600
CACTCCCCGA GAGAGGTGTA GACTCTTTGC ACTTGGGTAT G
G
G
A
G
A
G
T
A
T
7650 |
REPEAT
T
C
C
A
A
G
G
C
C
A
G
G
C
T
C
T
G
C
A
G
C
T
A
A
G
T
G
A
C
G
T
G
T
G
A
C
T
C
T
G
G
G
C
A
A
G
T
C
A
G
7700
T
T
C
T
T
C
T
G
A
A
C
T
A
C
A
A
T
T
T
T
G
T
C
A
T
A
G
A
A
A
A
A
G
A
C
A
A
A
A
A
T
G
A
A
G
G
C
A
T
T
7750
G
G
A
C
T
A
G
GGG ACAAGAATGT TAGTCAGGAA TTTTCAAATA TTCTGCAAAT
7800
TGAGCAATTT GAGAGAAGGG ACATACCCCT CTCTCTTCTC TTACCTACAA
7850
AGGTGCATTC TCTAGGACAT AACACAAAAA TGAACAAGGA TTTCTTATGG
7900
GACTCAAAAG AAAAGCCAGA TATAAAGCCA GACTATTTTA ATC
A
TAGATA
7950 |
var(7944):[T:0.01]
AAAATGGTGA AGTCTGAATG GGGCTCAAAA AAAAGACAGA AAACACTGTA
8000
ACTTGGTAGT CCAAATATGT CTAAATTATA AGTATAGACT CTTTTAAGAA
8050
TTATTTATTT TTTCTCTTTT TTGTTTTTTA TATTCTTTCC TTGAGTCATA
8100
TAGACT
C
T
TT AATTTTATTT AGAATCATGT GTAGTAAAAG CAGAAACATT
8150 |
var(8107):[:0.01]
AATCTTGGCT CAAGCACTTA ATTTGATTTA ATCTTATAAA TACTGTTTCC
8200
TCATCTGTAA TGGAGAGCAC AGTGGCTTCC TTTCATTTGT ATGAGAATTA
8250
GACATAATGT GTTACATTTC TCAGTGACTC ACAGTACCTG AAACTTAATG
8300
ATAG
C
CTTAT ATTTGGGCTT ACGAAAAGAC GATTGCTAAA GACATTTTTT
8350 |
var(8305):[T:0.11]
TCTATATCTA GTAAAGCTTC ATGAAGACTA AAAATAGAAT TGAGTCATGA
8400
GAGTTGAGAA TTATTTAGAA GCAATGAAAA CTGTTGAACG CAGCTGTGAG
8450
TTATTCTAGG AATTTTTACA ACAGAATATA TTTCATTTGT CTACTAGTA
C
8500 |
REPEAT
A
G
A
G
G
T
C
C
C
T
A
A
C
C
C
T
A
G
G
C
A
A
T
T
T
T
G
T
C
C
C
C
A
A
G
G
A
G
A
T
A
T
C
T
G
A
C
A
A
T
8550
G
T
C
T
G
G
A
G
A
C
A
T
T
T
T
T
T
G
G
T
T
G
T
C
A
A
A
A
C
T
A
A
A
A
A
G
G
A
T
T
T
G
C
T
A
C
T
T
G
C
8600
A
T
T
T
A
G
G
G
G
T
A
A
A
A
C
C
T
G
A
G
A
T
T
T
C
T
A
A
A
C
A
A
C
T
A
T
A
A
T
G
C
A
C
A
G
A
A
C
A
G
8650
C
C
C
A
G
A
C
T
A
C
T
G
A
A
C
T
G
T
A
A
T
G
T
C
A
G
A
A
G
T
G
C
T
G
A
G
A
T
T
G
A
G
A
A
A
C
C
C
AA
8700
CTCAAAAGGG TAAAGAAATA AGTAAAAGAT TCTCAAATCT TTCTTTTTCA
8750
CTGTGTCAGA TATTGTGTTC TTGTCCAAGA TGATAATGCA TTTCACAGCT
8800
GTCTTTTGGT TGGTTTCTTC TTAG
G
C
A
C
A
A
A
C
T
T
G
T
T
C
C
T
C
A
C
T
G
C
T
G
T
T
8850 | Exon 5
G T N L F L T A V 217
C
A
C
G
A
G
A
T
T
G
G
C
C
A
T
T
C
C
T
T
A
G
G
T
C
T
T
G
G
C
C
A
T
T
C
T
A
G
T
G
A
T
C
C
A
A
A
G
G
C
8900
H E I G H S L G L G H S S D P K A 234
C
G
T
A
A
T
G
T
T
C
C
C
C
A
C
C
T
A
C
A
A
A
T
A
T
G
T
T
G
A
C
A
T
C
A
A
C
A
C
A
T
T
T
C
G
C
C
T
C
T
8950
V M F P T Y K Y V D I N T F R L 250
C
T
G
C
T
G
A
T
G
A
C
A
T
A
C
G
T
G
G
C
A
T
T
C
A
G
T
C
C
C
T
G
T
A
T
G
GTGA GTTGAATTCT
9000
S A D D I R G I Q S L Y 262
TTATCATTTT GCCATATAAA GATACTCGCT TTTATGAATA GTCTAACAAT
9050
ATCTATATTT GGATAAAACG TTAATATCTG TCTTTT
T
T
T
A
A
G
C
C
G
C
A
T
A
A
9100 |
REPEAT
G
A
A
C
C
C
T
G
T
G
T
G
G
C
A
G
G
T
G
A
C
A
C
A
G
G
T
A
T
T
A
T
C
T
T
C
A
T
T
A
T
A
C
A
G
A
T
G
A
G
9150 |
var(9126):[A:0.18]
G
A
CAAGAGAC CT
A
GTATGTT AACGTCAGAG CCAGAGGCAG AACCAGAGGC
9200 |
var(9163):[C:0.01]
CTCAAGTCTG GTGTTCTTTC TATCCAAGAT ACCATTG
C
C
T
T
A
C
T
G
A
T
G
A
A
9250 |
NOT SCANNED
G
G
C
C
C
A
C
A
C
A
T
T
A
A
A
C
A
A
T
C
T
A
T
T
A
T
A
A
C
T
G
G
A
A
A
A
G
G
A
A
A
G
T
A
A
A
G
A
T
A
9300
A
T
C
A
G
A
T
T
T
T
C
T
T
C
C
T
C
C
A
T
G
A
T
A
T
T
G
C
A
A
C
C
A
T
G
T
G
G
A
A
A
A
A
A
A
A
C
C
T
T
9350
A
C
T
T
T
A
T
A
C
T
T
C
C
T
G
T
G
A
A
T
G
T
T
A
T
A
G
A
A
A
G
C
T
T
A
A
A
A
T
G
A
T
T
T
T
G
A
T
G
C
9400
A
A
T
G
T
T
C
A
T
T
A
A
G
A
A
A
A
T
T
G
A
G
T
A
T
T
T
A
A
A
A
C
A
T
A
A
C
T
G
T
T
C
C
T
C
C
T
C
T
G
9450
A
A
C
T
A
C
A
A
T
G
C
A
G
A
T
T
T
T
G
T
T
T
A
C
T
A
ATGC TTCTCGAAAT GTATTTTCAG
9500
262
G
A
G
A
C
C
C
A
A
A
A
G
A
G
A
A
C
C
A
A
C
G
C
T
T
G
C
C
A
A
A
T
C
C
T
G
A
C
A
A
T
T
C
A
G
A
A
C
C
A
9550 | Exon 6 |
var(9550):[G:0.02]
G D P K E N Q R L P N P D N S E P 279
G
C
T
C
T
C
T
G
T
G
A
C
C
C
C
A
A
T
T
T
G
A
G
T
T
T
T
G
A
T
G
C
T
G
T
C
A
C
T
A
C
C
G
T
G
G
G
A
A
A
9600
A L C D P N L S F D A V T T V G N 296
T
A
A
G
A
T
C
T
T
T
T
T
C
T
T
C
A
A
A
G
A
C
A
G
GTAGGA TCATTTTCAT ATCTAACCAA
9650
K I F F F K D R 304
TATTAAAGTT TCTGCCTTTA AATTTTTTT
T
GTCAGAAAAC AGTGGAAAAT
9700 |
var(9680):[:0.35]
AATTGAAAAT GAAGTAGATG AAACTTGTAA GCAGGAACTT GGACTCGATT
9750
CTGTAGGCAG TGAGGAGATC TTAAAGGTTT TGAAGCAGGA GACAGGTGTA
9800
ATTACATTTG TGTTTTAACT AGAAAACTGG TGTGTAAAAA ACGATTTGCA
9850
GTAGGAATCT GGGATGGGGA TTTAGAAGAT AAGAAACAGA AGCCAGACTA
9900
TTTTAATCAT AGATAAAAAT GGTGAAGTCT GAAACCAAGA CTGTAAAACA
9950
G
TACCTATGC AAGAGACTTG ATTTCCTGGT TATGGAGGAG AGAATTCCAG
10000 |
var(9951):[A:0.01]
GATAACTTAT GGTTTCTTTC TTAGAACACA GACTGAAGCA GATGTTGGTG
10050
GTAAGGAGGG GCAGTTGGGA AGACTAACAT TTGTC
A
A
G
T
A
G
G
A
C
A
A
A
T
A
T
10100 |
REPEAT
T
T
C
C
C
A
T
T
T
T
T
G
A
G
A
T
T
A
T
A
A
G
A
C
T
G
A
T
A
C
A
C
T
T
G
A
G
G
A
T
A
G
T
G
A
C
T
T
C
C
10150
T
T
G
A
G
G
T
T
A
C
A
A
A
A
C
T
G
G
T
G
A
G
T
G
A
A
T
T
G
T
A
G
G
G
T
C
G
A
A
C
C
A
G
A
A
G
C
T
T
A
10200
G
A
T
C
C
C
T
G
G
A
T
T
C
C
A
A
G
C
T
C
CAGGGTATTT CTGTATACCA GATTGCTTGT
10250
TAAAGTCATT GTTATTATCA AAGAGTTGAT TGATATCCTT TTCTTGTGGA
10300
TCCATGAACA TCAGACATCC ATGGAACAGA ATGTGAAGAC A
A
T
G
G
A
A
A
GA
10350 |
var(10342):[:0.03]
AATATTGGGT CTTTTCACAG TTCCCTCCCA TTCACATGCC ATGGTTCTTG
10400
AGTCTACATT GTCTTTTAAC ATGTGTCAAA TG
T
CTTTCAT GTCAG
G
T
T
C
T
10450 |
var(10433):[A:0.03]
| Exon 7
F 305
T
C
T
G
G
C
T
G
A
A
G
G
T
T
T
C
T
G
A
G
A
G
A
C
C
A
A
A
G
A
C
C
A
G
T
G
T
T
A
A
T
T
T
A
A
T
T
T
C
T
10500
F W L K V S E R P K T S V N L I S 322
T
C
C
T
T
A
T
G
G
C
C
A
A
C
C
T
T
G
C
C
A
T
C
T
G
G
C
A
T
T
G
A
A
G
C
T
G
C
T
T
A
T
G
A
A
A
T
T
G
A
10550
S L W P T L P S G I E A A Y E I E 339
A
G
C
C
A
G
A
A
A
T
C
A
A
G
T
T
T
T
T
C
T
T
T
T
T
A
A
A
G
G TAATTCTAAT CTTTAGTTTT
10600
A R N Q V F L F K 348
GCCATTGAGT TTACTTCAAG GAAGAGAATA AATTGAGAAG AGACTACTAC
10650
TTTTTAATAG ATATAGACCA AGAAAGCACT CTTGATTTTA TTAATAGTGG
10700
CTCGCTCTGA AGTGTAAACT AAAATAGCCT AAATACCTAA GTAATATATA
10750
CAACTT
C
TGG GAAAAGTTTG TAAACTACAA AATAGTAATA CTTGTGAAAA
10800 |
var(10757):[G:0.01]
AAAACCATGG GAACCATAGA AAAGAGACTA TGTTTAAGAT CAATAAGCAA
10850
TAAATATTAT AACTGTTGGA AAGGAATTAT GTTGTTTATA GTAAATCAAT
10900
ATTTTCTTAT TACTCTTCCT GTATAATTCA AATTTACCCT ATTTCTTTGT
10950
CTTCACAG
A
T
G
A
C
A
A
A
T
A
C
T
G
G
T
T
A
A
T
T
A
G
C
A
A
T
T
T
A
A
G
A
C
C
A
G
A
G
C
C
A
A
11000 | Exon 8 |
var(10978):[C:0.01]
|
var(10983):[G:0.12]
D D K Y W L I S N L R P E P 362
A
T
T
A
T
C
C
C
A
A
G
A
G
C
A
T
A
C
A
T
T
C
T
T
T
T
G
G
T
T
T
T
C
C
T
A
A
C
T
T
T
G
T
G
A
A
A
A
A
A
11050
N Y P K S I H S F G F P N F V K K 379
A
T
T
G
A
T
G
C
A
G
C
T
G
T
T
T
T
T
A
A
C
C
C
A
C
G
T
T
T
T
T
A
T
A
G
G
A
C
C
T
A
C
T
T
C
T
T
T
G
T
11100
I D A A V F N P R F Y R T Y F F V 396
A
G
A
T
A
A
C
C
A
G
T
A
T
T
G
G
A
G
GT GAGTTTTAAT GGTTGGTCAT TCGACCCCTC
11150
D N Q Y W R 402
AGATTGTGAA ACAGATATGG AATGAGGCTT TCTAGAAGGC ACATTTTCTG
11200
CGCAA
A
TTCC CAAAGCTCCT TGACCTTCCA GGGAGAGAGA TTAAGAGAAT
11250 |
var(11206):[G:0.13]
ATAGGACTGA AATAGTTATT GTCAACTTAG TTCTTTGTGT TTTTGGTTTC
11300
TGATATATGA AATAGTAGAT AATGTGTGTT TTTTTTT
T
AA AAAAACACTC
11350 |
var(11338):[:0.97]
TAAATAAAAT GTCATCTTAT TAATCATAGT GGAAACACAT TGGAAAATAG
11400
TGTCATAGAT GTACAAGACC AAGTATTTAA TCTACAGTCA GTTTCGAGGG
11450
TTA
T
GGATTT CCAGATTCCT TTCTGTAATC ACTGGATTCA AAAGACAAAA
11500 |
var(11454):[A:0.01]
TGAGACAACC ATCCTCTAAA TGACAGGAGG TCAGGAGGTC CTGCAAGATC
11550
TTCCTTAAAA GAAAGTCATA TGGTCAAGTG AGGATAGGAG CTCATTTGAG
11600
TGTCTGTCTC TGTTGTCTCA ATTGTCTACA TTTTGAAGGA GGAGAGGA
T
T
11650 |
var(11649):[C:0.01]
CTGTATTCCT TCTTCTGAGT AAGCCAGTCA TTTCCTAGAT TGCTTGCCTG
11700
GTTGACATGA GACATAACAT ATATGTTAAG CTTACATTTA CAACTGTTAT
11750
TTATTCTTAA GCATTTAAAA CACAATAT
A
T
CTAATTCCA
A
TTGAATACCG
11800 |
var(11779):[:0.98]
|
var(11790):[G:0.01]
GATGCTTATG ACTTGAATTT GTCCACCAGC CCTTAGCTCT GTTTGAGAAA
11850
CAAAACTTGA TTTTAGCAAA TAACACTTTC CAAAGAGCTC ACAAATGGGT
11900
GTAGTTTGCT GTAGCCTGTT ATTATGAACA TTGGCATTTC AACTCTGAAC
11950
AGTGTTTCTG TTTAGTTTTC CACTCCTACT TGGCCCAGGA TTTTTCCCTG
12000
AAAGGCCATT GAGAGAGTGC TAAGCAAGCC ATAAATACTT AGAGAACCAA
12050
ATTGATAAAC ACAAGATAAC AGTTAGATTC AGTTGCCACT TGGAAGTCTA
12100
GAGAGACACA AAGCTCTTTT CACTTGCTGG TAAAAGA
G
AA TTTAAGAGAG
12150 |
var(12138):[T:0.01]
AAACCAGGAT ATGACCATAC AGCCTGGAAA CAAAAGTGTT TATTTTCAAT
12200
TTCTCTCAAA CGTGTGTATA AAACCCTTTG GTTCCCTGGC TCTTAGCCCC
12250
TTGACCTGTT TATTATCTTC TTGGGGGAAA TGGGTATTTT TGTCTCAGTG
12300
AATAGCTTTG AAAAGAAGGC AATGACAGGC AACTGAAGAA TCGGTCACTG
12350
GGGCCTATGC TGTTGCCAAA TCACCTTCTA TGCCAGACTC TATAAAGCAG
12400
GACCAAGCAC TAGAGGAAGT ATTATGGGAT AGTGGGAAAA AGACTTAACC
12450
AGAGTCAGGA AGCATAGGTT TGAGTCCTA
T
AGGGACT
C
AG AGGAAATCAG
12500 |
var(12480):[C:0.02]
|
var(12488):[T:0.16]
TGAACTGTTT AGGTCCTTGG TTTT
C
TTCAT CAGAGCAACT TAAGTCCTTT
12550 |
var(12525):[A:0.01]
GGGGAAGAGC TCTTCAGTAG AGAAGGTGGG TTTGTGGTGC ATGTCAG
G
AA
12600 |
var(12598):[C:0.11]
AGCCACTTTC TGATTGAGTT CCTGCTGGTT ACTTCTTTGC TCAG
G
T
A
T
G
A
12650 | Exon 9
Y D 404
T
G
A
A
A
G
G
A
G
A
C
A
G
A
T
G
A
T
G
G
A
C
C
C
T
G
G
T
T
A
T
C
C
C
A
A
A
C
T
G
A
T
T
A
C
C
A
A
G
A
12700
E R R Q M M D P G Y P K L I T K 420
A
C
T
T
C
C
A
A
G
G
A
A
T
C
G
G
G
C
C
T
A
A
A
A
T
T
G
A
T
G
C
A
G
T
C
T
T
C
T
A
C
T
C
T
A
A
A
A
A
C
12750
N F Q G I G P K I D A V F Y S K N 437
A
GTAAGTAGA TGAGGAAACC ATGAAGATAC TGGAAATAAC ATTTCAAAGC
12800
437
TATAAATCCT CTAAGATTAG AGAATAGGGC TCCAAATTGG AAAGGGACAG
12850
GTTTCTGCAG TTCCCCATAG GGCCGCAAGG AAAAACTCAC ACTGTA
C
GTG
12900 |
var(12897):[G:0.01]
GCTCTGAATA GGAGAGTTAG AATGAGCAGG GGCTGGTGGC ACAAGTGGTA
12950
TATTCCCAGG GTTGTCTAGC AGGCAGAGGG AATGTGATTG TTCCTATTTC
13000
TCATGTACCT GAGTCTCTGG AATTTCCTTT TACCACATCA GCCACACAGT
13050
ATGTGCAAGC GAGCACATGG CAGCCAAGAC TCAGGCAGTC TGGAGTCTCA
13100
CCCTTTCCTA CACCTTGCAC TCTTGACCTT TCCTATAGTC CCTTCTGCCC
13150
TGATAGGCCC TCATGGACTG GGGACTGCGG GTGGGTTAAG AAAAGCTTGA
13200
GTTTGTATCG TATGTCTTCA AACAAGACCA GCCTAAGCAA CTGTTCATGG
13250
GG
T
CAAGATT TTTTGTTTGT ATTCCCTCCC CTCCCCAGTG TTGTTTCCTC
13300 |
var(13253):[C:0.01]
CATCAAAGCC CCTGTGTGCC CTAGCTGGGT CCAATATCCT GTTTCATGAG
13350
TCCTCCACTT G
G
AGTATGAC TGGCTGTTGG TAGACG
T
TTT GGGGGTATGA
13400 |
var(13362):[A:0.01]
|
var(13387):[A:0.01]
TACCAAGGGC CCTCAAC
T
TT TAT
G
TCCTCA AATCACATCT CATCTTATTT
13450 |
var(13418):[A:0.16]
|
var(13424):[A:0.01]
TTTA
T
T
T
G
T
T
A
T
T
T
T
T
T
G
A
T
G
A
A
A
A
A
A
T
A
G
A
G
A
T
G
A
G
G
T
C
T
T
G
T
G
A
T
G
A
T
13500 |
REPEAT
|
var(13488):[A:0.01]
G
G
C
C
A
G
G
C
T
G
A
T
C
T
C
A
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
C
A
G
T
C
T
T
C
C
C
A
T
C
T
C
A
G
C
13550
C
T
C
T
C
A
A
A
G
T
G
T
G
T
A
G
T
T
A
A
G
G
G
C
A
T
G
A
A
C
C
A
C
A
G
C
CCAT AGGTCATCTA
13600 |
var(13573):[A:0.01]
TTCTAGATAA TCTATGAGAA GAGATTTGTG TTGTTGTTGT TGTTGTAAAG
13650
AAATACAGGG AGGGAATTAA ACTATTTAAT TTGTTTTCAT TTTCAG
A
A
T
A
13700 | Exon 10
K Y 439
C
T
A
C
T
A
T
T
T
C
T
T
C
C
A
A
G
G
A
T
C
T
A
A
C
C
A
A
T
T
T
G
A
A
T
A
T
G
A
C
T
T
C
C
T
A
C
T
C
C
13750
Y Y F F Q G S N Q F E Y D F L L 455
A
A
C
G
T
A
T
C
A
C
C
A
A
A
A
C
A
C
T
G
A
A
A
A
G
C
A
A
T
A
G
C
T
G
G
T
T
T
G
G
T
T
G
T
T
A
G
A
A
A
13800 |
var(13789):[C:0.01]
|
UTR
Q R I T K T L K S N S W F G C 470
T
G
G
T
G
T
A
A
T
T
A
A
T
G
G
T
T
T
T
T
G
T
T
A
G
T
T
C
A
C
T
T
C
A
G
C
T
T
A
A
T
A
A
G
T
A
T
T
T
A
13850
T
T
G
C
A
T
A
T
T
T
G
C
T
A
T
G
T
C
C
T
C
A
G
T
G
T
A
C
C
A
C
T
A
C
T
T
A
G
A
G
A
T
A
T
G
T
A
T
C
A
13900
T
A
A
A
A
A
T
A
A
A
A
T
C
T
G
T
A
A
A
C
C
A
T
A
G
G
T
A
A
T
G
A
T
T
A
T
A
T
A
A
A
A
T
A
C
A
T
A
A
T
13950
A
T
T
T
T
T
C
A
A
T
T
T
T
G
A
A
A
A
C
T
C
T
A
A
T
T
G
T
C
C
A
T
T
C
T
T
G
C
T
T
G
A
C
T
C
T
A
C
T
A
14000
T
T
A
A
G
T
T
T
G
A
A
A
A
T
A
G
T
T
A
C
C
T
T
C
A
A
A
G
G
C
C
A
A
G
A
G
A
A
T
T
C
T
A
T
T
T
G
A
A
G
14050
C
A
T
G
C
T
C
T
G
T
A
A
G
T
T
G
C
T
T
C
C
T
A
A
C
A
T
C
C
T
T
G
G
A
C
T
G
A
G
A
A
A
T
T
A
T
A
C
T
T
14100
A
C
T
T
C
T
G
G
C
A
T
A
A
C
T
A
A
A
A
T
T
A
A
G
T
A
T
A
T
A
T
A
T
T
T
T
G
G
C
T
C
A
A
A
T
A
A
A
A
T
14150
T
G
AAAAAAAA A
A
TCATTTGG TTTTTAATAT ATTTTTCTTG AGAAACAGAA
14200 |
var(14162):[:0.86]
TGTGTATTTT GAAAATAACT CTGAACCTAC TCCTAAATAA AAACAAGTCT
14250
CTCTGACTAT ATCAAGAGAT GAATAGAAAT ATGGCAAGTA GAAATAAAAG
14300
CTTAGATTTC TTTTGGTCAC TTGGGTAACA CCACTTGTGT CCTTGGTCTC
14350
AAGGCAAGAA AACATCCTCT AGGCTACACA CAACCCCAAG GAGT
G
C
T
TAC
14400 |
var(14395):[A:0.16]
|
var(14397):[C:0.02]
AGAGTACAGC CACAAGACTG GAGAGAAGGG ATGAAATGGG AATTTCCCGT
14450
TCTGGTAAAA TCCAC
A
GTCA AGTCTCACAG TGTAATT
G
C
T
G
T
G
T
G
A
C
C
T
T
14500 |
var(14466):[G:0.09]
|
REPEAT
A
A
C
A
A
G
C
A
A
T
T
A
A
A
T
C
T
A
A
G
C
T
T
C
C
T
T
A
A
A
T
T
T
A
G
G
A
G
G
A
A
A
T
A
A
A
C
T
T
A
14550
G
G
A
G
G
T
A
C
C
C
A
C
C
T
C
A
T
A
G
G
T
T
T
A
T
T
G
T
G
A
A
A
A
A
C
C
A
C
A
C
A
A
T
G
C
A
T
G
G
T
14600
A
A
G
C
A
C
ATCA TTCTGGCAGT GTGGCCTGTC CTGTGTCCAT TTTCTCCACT
14650
ACCCTG
A
CAC ATAGTTCCCC TATCTTCTGG GTTGCATACA TTGTAGAGCT
14700 |
var(14657):[T:0.01]
CTCACTTATA GCTTA
C
GGGT TTGTGGAATG CTTTTAGTTT TCAATTTATT
14750 |
var(14716):[T:0.11]
AGTAAATCAT TGCTGATTGA TGTACTTAAG TTTGCAGAAA TGGCCAAGTC
14800
CATTTCAAGC TGGATGATCA TT
T
C
T
G
G
C
T
A
G
T
G
A
A
A
T
G
A
A
C
T
G
A
A
C
T
C
A
G
14850 |
NOT SCANNED
G
G
G
A
A
A
T
A
T
G
A
G
G
C
T
C
A
G
A
A
A
G
T
A
C
C
T
A
G
A
G
G
G
A
G
A
T
A
G
A
G
C
T
C
T
T
T
G
T
C
14900
C
T
T
C
A
T
G
T
C
T
C
A
G
A
T
C
T
T
T
T
T
T
C
T
T
T
T
T
T
T
T
T
T
G
A
A
A
C
G
G
A
G
T
C
T
C
A
C
T
C
14950 |
REPEAT
T
G
C
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
A
C
15000
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
A
G
A
T
T
C
T
C
C
C
A
A
C
T
C
A
G
C
C
T
C
C
A
G
A
T
T
A
G
C
T
G
G
15050
G
A
T
T
A
C
A
C
G
T
G
C
C
A
G
C
C
A
C
C
A
C
G
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
15100
A
G
A
C
G
G
G
G
G
T
C
T
T
A
C
C
A
T
G
T
T
G
G
C
C
A
T
G
C
T
G
G
T
C
T
T
G
A
A
C
T
T
C
T
G
A
C
C
T
C
15150
A
A
G
T
G
A
T
A
C
C
C
C
C
A
A
C
C
T
A
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
15200
A
G
C
T
G
C
T
G
T
G
C
T
C
A
G
A
T
C
C
A
T
T
C
T
T
A
A
C
T
C
A
A
G
T
A
T
G
T
G
C
T
C
C
T
T
C
A
G
T
A
15250
T
T
A
T
T
A
G
A
G
T
T
G
T
C
T
T
T
G
C
A
A
A
G
A
G
T
A
G
A
A
T
C
G
A
T
T
C
A
C
C
A
C
T
A
T
A
A
G
A
A
15300
A
T
G
T
T
A
T
T
C
C
C
C
A
C
A
G
G
T
T
A
C
T
A
A
A
T
G
C
T
G
G
A
T
T
T
C
C
C
T
C
A
A
A
A
G
A
A
G
A
A
15350
A
A
T
T
C
C
C
T
C
C
A
G
A
A
T
C
A
G
C
A
T
C
A
A
A
A
A
A
A
A
T
T
G
A
A
T
G
G
T
A
T
C
T
G
C
A
T
G
A
A
15400
T
T
G
T
C
T
T
T
G
G
C
C
T
T
A
G
G
T
A
A
C
T
C
A
G
G
A
G
G
G
A
G
G
C
G
T
T
T
C
T
C
T
T
A
A
A
T
G
A
C
15450
A
A
C
T
G
A
A
T
A
G
G
A
A
T
A
A
A
A
G
T
C
C
A
G
A
G
T
C
G
C
T
A
T
C
A
T
G
A
G
T
G
T
T
C
A
T
A
A
A
G
15500
A
T
G
C
C
T
C
A
A
A
G
A
C
T
T
A
A
A
T
G
T
G
A
A
C
C
T
T
T
C
T
T
C
C
T
T
T
T
C
T
T
C
T
A
T
C
C
G
T
G
15550
G
T
G
T
A
C
T
T
T
C
A
A
A
T
T
T
T
G
T
T
A
A
A
C
A
A
A
T
C
C
T
T
A
T
A
A
T
G
T
T
A
A
C
C
A
T
G
T
G
C
15600 |
REPEAT
C
A
G
G
C
A
C
T
G
T
T
C
C
A
A
G
G
C
T
G
T
A
T
A
T
A
C
A
C
A
A
A
A
T
A
T
A
A
A
A
T
G
A
A
A
A
T
A
A
C
15650
T
C
A
T
T
T
A
A
T
C
C
T
G
A
T
T
A
C
A
A
A
C
A
T
G
A
G
G
T
A
A
G
T
A
C
C
G
T
C
A
T
T
C
T
C
A
T
T
T
T
15700
T
C
A
G
A
T
G
A
G
A
T
A
A
C
T
A
A
A
G
C
A
T
C
A
A
G
A
G
T
T
T
T
T
A
C
C
T
T
G
C
T
G
T
A
G
G
T
C
A
G
15750
G
T
A
G
C
C
T
T
G
G
A
G
C
T
T
G
A
T
G
C
A
C
G
G
T
C
A
G
G
C
A
G
C
C
T
G
A
C
A
C
C
A
G
A
A
T
C
T
A
T
15800
G
C
T
A
T
T
A
A
C
T
A
C
C
A
CAAGAT TGTGCCTTTT AGATTTATAA AGTGGAAAAA
15850
GTTAAAGCTA AAACTTCTGG CATTTCACTC TATAAAGTTT TGCATTTTTA
15900
CTTTTCAATT AAAAGTCTTC AAAATGTCTT AAGAGTTGCA TGTATGTCCC
15950
GTCTGGGGAA TATCACTTTT T
C
TCTGGGAA ATGGAGGAGT ATTATTTCAT
16000 |
var(15972):[G:0.01]
TGATGTAAGG AAAGAAAATG TTCAAGACTT GGAAATTACA GGTGTCTTTA
16050
CAACTAAGGG CTGCACATTG TGTAGCTAAT ATTCTGGAGT AACTGATTTT
16100
ATGAGGGTAT GCATCTTTGA CTT