SERPINC1 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
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
A
G
C
A
C
G
A
T
50 |
REPEAT
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
G
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
100
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
A
A
T
T
A
C
A
G
G
T
G
C
C
C
A
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
150
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
G
G
T
T
G
G
C
T
A
G
G
C
C
G
G
200
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
A
G
C
C
T
A
C
C
A
A
A
G
T
G
250
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
G
C
T
T
G
G
C
C
TAAAAT ACTGATTCTT
300 |
var(276):[T:0.02]
TATGT
G
A
T
T
G
C
T
G
T
A
T
G
T
C
T
C
C
C
C
C
G
A
A
T
G
G
A
A
T
C
C
C
A
G
C
C
C
C
A
A
G
A
A
C
A
350 |
REPEAT
|
var(326):[A:0.04]
G
T
G
T
C
T
G
C
T
G
G
C
A
C
A
A
G
C
A
G
C
A
C
T
C
G
T
G
T
A
T
T
T
G
T
T
G
A
A
C TCAAGTGGTT
400
GAACAGGAGA CTTTTCAATA GTCTTTAATC TAGGGTGACA GATGAGCCTC
450
TGGGCATTCT GGGGCCCTTT GGGACAGTTC TCGGCTACTG TTCACACTGC
500
ACATGG
A
GGG CTTCAAAGGA TCCAGGGTCT GAATCAGCCA AGAACTTAGA
550 |
var(507):[G:0.08]
CACAGCTTCA GTTCAGGAGA GATGTCCTCT CTCATGAACG AAGAGCTCTC
600
GAAAATGCCT ATGACTGCAA CAACAACTAC AAGGAGTCCT TGATCACACA
650
GCAGGAGGCA CATGCGCCCT GTGAACTTGG TGGCTGCAGT CCTTGTGATG
700
GTGCTTTTGG CTATTTCAGA AGAGGGAAAT GTAAACAAAC CTGCCCTTTA
750
TCTCCACTAG TTTGAATTTA CCCAATCTCC CCAATAACTA ATAAAAATAA
800
CGATACACAT AAATATAATT TAGTTTGTTT TTATTTCAGC AGTTGTACGT
850
GGGTTTTTCA CCTGCCCCGC ATTCTGTCTC CTGATCCCCC AGTAGAGTTT
900
TGCTAAGTAT TTCCCAGCTG CTCACACCCC TTAGAAACGC GCTTGGCATG
950
CACCCCGAGG CCCTGCTCTT CTCTCCCTGT CCCACCACTT CAGGGCTGCT
1000
GGGGAATGGG TCTCTCTGTG GGCCACAGGT GTAACCATTG TGTTTTCCTT
1050
GTCTGTGCCA GGGACACCTT GGCACTCAGA TGCCTGAAGG TAGCAGCTTG
1100
TCCCTCTTTG CCTTCTCTAA TTAGATATTT CTCTCTCTCT CTCCCTCTCT
1150
CCATAAAGAA AACTATGAGA GAGGGTGGGT ATGAACCAAG TTTGTTTCCT
1200
TGGTTAGTTT CCTAACCAAG TTTGAGGGTA TGAACATACT CTCCTTTTCC
1250
TTTTCTATAA AGCTGAGGAG AAGAGTGAGG GAGTGTGGGC AAGAGAGGTG
1300
GCTCAGGCTT TCCCTGGGCC TGATTGAACT TTAAAACTTC TCTACTAATT
1350
AAACAACACT GGGCTCTACA CTTTGCTTAA CCCTGGGAAC TGGTCATCAG
1400
CCTTTGACCT CAGTTCCCCC TCCTGACCAG CTCTCTGCCC CACCCTGTCC
1450
TCTGGAACCT CTGCGAGATT TAGAGGAAAG AACCAGTTTT CAGGCGGATT
1500
GCCTCAGATC ACACTATCTC CACTTGCCCA GCCCTGTGGA AGATTAGCGG
1550
CC
A
T
G
T
A
T
T
C
C
A
A
T
G
T
G
A
T
A
G
G
A
A
C
T
G
T
A
A
C
C
T
C
T
G
G
A
A
A
A
A
G
GTAAGAG
1600 | Exon 1
M Y S N V I G T V T S G K R 14
GGGTGAGCTT TCCCCTTGCC TGCCCCTACT GGGTTTTGTG ACCTCCAAAG
1650
GACTCACAGG AATGACCTCC AACACCTTTG AGAAGACCAG GCCCTCTCCC
1700
TGGTAGTTAC AGTCAAAGAC CTGTTTGGAA GAC
G
TCATTT CAAGTGCTCT
1750 |
var(1734):[A:0.05]
CCCTCCCACC CCACCTCTTG GGGTAAGGCC TTTCCTAAGC TACCCCTTGG
1800
GTCCCTAGCC TAAGAAACAA GGGGGATGTC ATCCCTGGTG TAAAGATGCT
1850
GTGCAGGAAG TCAGCACTCA CGGGATCCAG GGGACGCTCC AAGGGGAATC
1900
CCCAGGGCCT GC
C
ATCCATC CGGGAAGAGA GCAAATGCTA CCCATGAGGA
1950 |
var(1913):[T:0.21]
CCTCCTCACT CCCTTTTTGC TCTTTCTTCC ACTCAGATCC ACCCCACTCC
2000
ACCCCCACCC AAATCCCAGT GACCTTTGAC TAAAGGGCCA AAACTGCTTC
2050
CTTTTCTCAC AATGAGAGTT GTCCCTCCCT CAATGCCACA CACACTCCCT
2100
TCTTCATCTG AGTTGTCACA GGAGGCTAGA AACGGGGTGG TGGCACAACT
2150
GTCTTGGTTT TAATTTGTGC TTCATAGCCC TCCCAGGGTC CTCTCAGCCT
2200
CAAATTGCAT TTCCAAATGT AG
T
TTGAAGG ACAGAGTG
G
G CAACCGAAGG
2250 |
var(2223):[-:0.93]
|
var(2239):[A:0.05]
CAGTGGAGAT GGGAAGATGA ATGGCAGGGT CCTCTCCTCT CTCTCTCTGC
2300
TTCTTCAGCC TGCCTTCCAC ATCTCCCTTG GTGCCGCTGC TTCTCTCCGG
2350
CTTTGCACCT CTGTTCTTGA AAGGGCTGCA GAACTGGACT CAGACCACGC
2400
AAGAAGGCAA GTCC
C
CCTCA GCTGCCCCAG CTTCCAGCCA GCCCCAGGCT
2450 |
var(2415):[A:0.22]
TGCCCAACGG ACCACGTCC
G
TGAATCTGCA CTGGGTGCCT GTCTTTCTCT
2500 |
var(2470):[A:0.21]
CCCAGGAGAA GATGGGAAGA TCCAGTACCC ACACACAGAC CCCCTTGTGT
2550
ACACGCAGGA ACCATAAACC AGCTGGAGG
C
A
G
C
C
C
C
T
G
C
C
C
C
A
C
C
C
T
G
T
C
2600 |
REPEAT
T
T
A
T
C
T
A
C
A
A
A
A
A
A
T
A
T
T
A
C
A
A
G
A
G
A
C
T
T
T
A
T
C
T
C
T
T
G
A
T
T
T
G
C
T
TCATC
2650
GAGTGTCCCA ACTACCTCAT TTTTT
T
AAAA TGTGAAATTA GCTTCATTTA
2700 |
var(2676):[A:0.10]
CCTTCATT
G
A
A
T
C
C
A
T
G
T
T
G
G
C
G
A
C
T
A
T
T
A
A
A
A
A
T
T
C
C
A
G
G
C
A
A
T
A
A
A
A
A
2750 |
REPEAT
G
G
G
A
T
G
A
G
A
G
C
C
T
G
A
A
C
T
A
A
A
G
C
A
G
T
G
G
C
A
A
T
A
A
C
T
G
G
T
G
A
A
A
G
A
G
T
A
A
A
2800
A
A
A
A
C
A
G
A
A
C
T
G
A
T
T
G
A
C
T
C
T
G
G
G
G
T
G
A
A
C
T
G
A
T
T
G
A
C
T
C
T
G
G
G
G
T
T
T
G
A
2850
C
T
A
A
A
T
G
A
G
G
A
G
G
A
G
A
G
A
G
G
G
A
G
G
A
A
T
C
C
A
G
G
G
T
G
A
T
T
C
T
C
A
G
G
T
T
T
C
T
G
2900
T
A
C
G
G
G
A
T
T
C
A
C
T
G
A
G
C
C
C
A
C
T
C
A
C
A
G
G
A
G
C
A
G
G
C
C
T
G
T
G
G
G
G
G
A
G
A
A
T
T
2950
A
A
T
T
A
C
C
A
G
T
T
C
A
G
T
T
T
G
G
T
C
C
T
G
T
T
T
C
C
C
T
G
A
A
G
A
A
C
T
T
G
T
A
G
G
A
G
T
T
C
3000
C
T
G
G
T
G
G
A
A
C
T
G
T
C
C
A
G
C
A
A
A
T
A
G
T
C
A
G
T
C
T
G
G
A
G
C
T
C
A
G
T
G
G
A
A
G
G
G
T
T
3050
A
G
G
G
C
T
G
G
A
G
C
T
A
G
A
G
A
T
G
T
A
G
G
A
A
T
C
T
T
C
A
G
C
A
C
A
C
A
G
A
T
ATTGCCATT
3100
GTTTTTGTTT GTTTGTTTGT TTGTTGTTGC TG
T
T
T
T
G
A
G
A
C
A
C
A
G
T
C
T
C
A
3150 |
REPEAT
C
T
T
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
A
C
A
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
3200 |
var(3158):[G:0.41]
C
T
T
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
T
A
G
T
A
G
C
3250 |
var(3212):[C:0.22]
T
T
G
G
G
A
C
T
A
C
A
G
G
T
G
T
G
C
G
C
C
A
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
3300
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
T
C
C
A
G
G
C
T
G
A
T
C
T
C
G
A
A
C
A
C
C
C
A
A
C
3350
C
T
C
A
A
G
T
G
A
T
C
T
G
C
A
T
G
C
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
G
G
C
G
3400
T
G
A
G
C
C
A
C
C
G
C
A
C
C
C
G
G
C
C
A GATATTGCCT TTGCTCCATC CATTTCTTCT
3450
TACTTCTCTT GTGTTGCTGA AATCTCTCTG CTGCATCTAT CAGAGTCCTT
3500
CCCCAAACAG TTTCTGTAGA TGGCTCCCCC TACCACCCTG ACTCTTCACT
3550
GGGCACTAAA GCCGATTTTT TAGGCATGCA CATTCCATGT CACAAACAGG
3600
AAGCTTCTCA TTCTTTTTTC TCCCAGCGTG GGGAATTGAG CACATAATAC
3650
TCCAA
A
TAAC CATCAGATGA TTCTAATTCC AACATGACCA CGTCCAGGCA
3700 |
var(3656):[T:0.01]
ACTGAACTGT CCCCTGGCAA GAAGTCTAGG ACTGAACCTG TCCCGGGCCC
3750
CTGTACTTGG TTCAAAGGAT TTAGCCTTT
C
TCTTGGCCAC ACCAGGTGGG
3800 |
var(3780):[T:0.01]
CTGGAATCCT CTGCTTTACT GGGGCAACCC TGTGGTGGGC AGTGGGGCTA
3850
GGGGTTGCAG CCTAGCTTAA CTTGG
C
ATTT TGTCTCCTTG CAG
G
A
A
G
G
T
T
3900 |
var(3876):[T:0.04]
| Exon 2
K V 16
T
A
T
C
T
T
T
T
G
T
C
C
T
T
G
C
T
G
C
T
C
A
T
T
G
G
C
T
T
C
T
G
G
G
A
C
T
G
C
G
T
G
A
C
C
T
G
T
C
A
3950 |
var(3941):[A:0.01]
Y L L S L L L I G F W D C V T C H 33
C
G
G
G
A
G
C
C
C
T
G
T
G
G
A
C
A
T
C
T
G
C
A
C
A
G
C
C
A
A
G
C
C
G
C
G
G
G
A
C
A
T
T
C
C
C
A
T
G
A
4000
G S P V D I C T A K P R D I P M 49
A
T
C
C
C
A
T
G
T
G
C
A
T
T
T
A
C
C
G
C
T
C
C
C
C
G
G
A
G
A
A
G
A
A
G
G
C
A
A
C
T
G
A
G
G
A
T
G
A
G
4050
N P M C I Y R S P E K K A T E D E 66
G
G
C
T
C
A
G
A
A
C
A
G
A
A
G
A
T
C
C
C
G
G
A
G
G
C
C
A
C
C
A
A
C
C
G
G
C
G
T
G
T
C
T
G
G
G
A
A
C
T
4100
G S E Q K I P E A T N R R V W E L 83
G
T
C
C
A
A
G
G
C
C
A
A
T
T
C
C
C
G
C
T
T
T
G
C
T
A
C
C
A
C
T
T
T
C
T
A
T
C
A
G
C
A
C
C
T
G
G
C
A
G
4150
S K A N S R F A T T F Y Q H L A 99
A
T
T
C
C
A
A
G
A
A
T
G
A
C
A
A
T
G
A
T
A
A
C
A
T
T
T
T
C
C
T
G
T
C
A
C
C
C
C
T
G
A
G
T
A
T
C
T
C
C
4200
D S K N D N D N I F L S P L S I S 116
A
C
G
G
C
T
T
T
T
G
C
T
A
T
G
A
C
C
A
A
G
C
T
G
G
G
T
G
C
C
T
G
T
A
A
T
G
A
C
A
C
C
C
T
C
C
A
G
C
A
4250
T A F A M T K L G A C N D T L Q Q 133
A
C
T
G
A
T
G
G
A
G
GTACGACCAA AGGTCTTCTG CCCAGCCACC TTGTTAGGAG
4300
L M E 136
CACCTTTGGG GCTTCCATAG GCCCAAGTCC AATGATTCCT CAACCAACAC
4350
TGCAGGCCAC TAGGGGCGCT CATTATGCAT TACGATTCCC TTTGAACATC
4400
ACTGTGTTAT AATTCCCTTT GAAAATCATT TTTTAAAAAA TTAGCCAAGG
4450
AATCTTGGCT ATCTACTTTT TAAATCCTGG TTTCCTCTTT TGAGCACCTT
4500
AAAATGGGGG AAGGCTTGTA TC
T
TCTCTCA ACTTCTTTTC AGTAATTCTT
4550 |
var(4523):[G:0.01]
TCATCTATAT GTTTACTCAT TAATTTGA
T
C
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
C
A
T
T
C
4600 |
REPEAT
|
REPEAT
A
G
C
A
C
T
T
C
C
T
C
T
G
T
G
C
C
A
G
G
C
A
A
T
G
T
GTAG TGCCAGTCCC TCCTCTGGTG
4650
GAAGAAGAGT AGCTTTACCA TATGGTGACA TCAGGCATAT AGGCTCTCGT
4700
GGAAAAAAAT TCTAGGATAG TA
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
4750 |
REPEAT
T
C
T
A
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
C
A
G
T
C
T
C
G
G
C
T
C
A
C
T
C
C
A
A
A
C
4800
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
A
T
4850
G
G
G
A
T
T
A
C
A
G
G
C
A
C
A
C
G
C
C
A
T
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
C
T
A
T
A
T
T
T
T
T
A
G
T
4900
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
C
G
T
G
G
C
C
A
G
A
C
T
G
G
T
C
T
C
A
A
A
C
T
T
T
T
T
T
T
T
T
T
4950 |
REPEAT
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
T
C
C
A
G
G
C
T
G
G
A
G
C
G
C
A
G
T
G
G
5000
C
A
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
5050
A
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
C
C
C
C
G
G
C
A
C
C
A
T
G
C
C
T
5100
G
G
C
T
A
A
T
T
T
T
T
T
T
T
C
T
T
C
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
5150
G
G
C
T
A
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
5200
A
G
T
G
C
T
G
T
G
A
T
T
A
C
A
G
G
C
G
T
A
A
G
C
C
A
C
C
G
C
G
C
C
T
G
G
C
C
T
C
A
A
A
C
T
C
T
T
G
A
5250 |
var(5221):[G:0.30]
|
REPEAT
C
T
T
C
A
A
G
G
G
A
T
C
G
G
C
C
T
G
A
C
T
T
G
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
C
5300
A
T
G
A
G
C
C
A
C
T
G
C
A
C
GGGGCC TAGGATGGTA TATTGAGACC AGGGGCCCAG
5350 |
var(5314):[T:0.10]
GAAAGCCAAG AGAAGCCTCA AGGACGTGAG AGTGTTTTCT GGCTCTGGGA
5400
AG
T
ATGGATC ATTTCAGCTC AGTGACTTAG TTCCCACCCC CTTCCCCCCA
5450 |
var(5403):[G:0.05]
CTGCCTTTTG TGGGAGGGAA GTAGGGCATG ATAAGATGAA ATGTCATAGA
5500
TTGATTGATC ACTGTTGGCC TCTGGGGCTA TGACAAGTCA TGGATGGAAA
5550
CACTAGATCT TTAATCTGTC CTTGGCTTGG CTGCATGACA GTCTTTCTTC
5600
AAGTTGGATC ACACTTTGGA AGCAGAGTTC ATCAATAGGG AGGCATGAGT
5650
CCCTTCAAGA TGGTATACGG TGCTTATTTG AAACTTGGAC ACTAAAGTCT
5700
G
TGGGTCTTA GGAGGGTTCC TTCTATTCTA GTGGTCAATT TCCATGGAAC
5750 |
var(5701):[A:0.01]
TTCATCACCT TTGCTCAGGG CTCTGGGGTG AGTTAACCCA AGTCTTCACT
5800
CTTTGAAAGA AATTGTAGAT TTAAAAACTC TGAAGACACA TAATACTGCC
5850
TTCTCTGGGC CCTTCAGTCA TTTTTGTATA CATTGGTACT GGTCTCAAAG
5900
TACTTCCATA TCACTCATGT CTCTGTCCCC AGGTAAGATC TTAAATGTAA
5950
CCCTTCCTAC AAGAAGAACA GAACAGAACA CTGCTTCCAA ACCACACATG
6000
TTCCTTTGGT CCTCCCCTCT ACACAAACGC CATGTGTTGG GAAAGCAGGG
6050
TGAGACT
G
AA TCTCTCTGGA GAAAAGAGA
G
ATTCAGCACC AAGCTTTTGA
6100 |
var(6058):[A:0.05]
|
var(6080):[A:0.47]
TCAAAAGCAT AATCCCCCCC TAAAAAAAGT GCCTATTGGA GCAAAATCAG
6150
GAAAACCAAA GGCAGAGAAC AGATAAAACC AAAAGGCCTT TTGTAGCCTG
6200
AGGAGAGAGC ATGGAAAGGG CAGGAGGGGA ACAGCCTCAC CCATTTTGCC
6250
TTGGGGATGG TGAAGGTGGG CATTGGGGGA TTCCAACTTC AAAGCA
T
G
G
A
6300 |
REPEAT
T
G
A
C
T
T
C
T
A
A
G
T
C
C
T
T
T
T
C
A
G
C
C
C
T
G
A
G
C
T
C
T
T
A
G
A
T
T
C
T
GAGCCTGTTT
6350
AATCCCTTGC TGATAGATTC ACTCTTCCTT TTTCACCCCT ACCACCAGTA
6400
TCCCAGAGCC TCCATGAGCA GCTGGCCCCA GTAGATGCCA CAAAAGTGTT
6450
TGTTACGAGA AGGACACCGT CCTGATTCTC TTCTCTGTCC AGAATCACCA
6500
AGAGGACTTT TCCCATTCCA GCAAGAAAAC
G
TCTGTGTGT TGATCTAGAG
6550 |
var(6531):[A:0.01]
GCGTTTAGAG ACTTTAGGTG GCAACC
T
AGT CTCTCTTTTT CCCTTTATCC
6600 |
var(6577):[C:0.01]
TTCCTACCCT TCATTCTTCT TTTATCCTTT TATTCATCAG AACACAAGAG
6650
TTGAG
C
ATTT ATGCTGTCCC AGGTACTGTG CTTGAAGGAG TTAACAACTG
6700 |
var(6656):[T:0.01]
AGGTGGCTAT TAGTCAGAGA CTGACCAGCA TGTGCTCACC ACCCATGTTA
6750
ACTAGGCAGC CCACCAAACC CACCACCATT TTTTTTTGAC TTCTATAG
G
T
6800 | Exon 3
V 137
A
T
T
T
A
A
G
T
T
T
G
A
C
A
C
C
A
T
A
T
C
T
G
A
G
A
A
A
A
C
A
T
C
T
G
A
T
C
A
G
A
T
C
C
A
C
T
T
C
T
6850 |
var(6829):[G:0.03]
F K F D T I S E K T S D Q I H F 153
T
C
T
T
T
G
C
C
A
A
A
C
T
G
A
A
C
T
G
C
C
G
A
C
T
C
T
A
T
C
G
A
A
A
A
G
C
C
A
A
C
A
A
A
T
C
C
T
C
C
6900
F F A K L N C R L Y R K A N K S S 170
A
A
G
T
T
A
G
T
A
T
C
A
G
C
C
A
A
T
C
G
C
C
T
T
T
T
T
G
G
A
G
A
C
A
A
A
T
C
C
C
T
T
A
C
C
T
T
C
A
A
6950
K L V S A N R L F G D K S L T F N 187
T
G
A
G
A
C
C
T
A
C
C
A
G
G
A
C
A
T
C
A
G
T
G
A
G
T
T
G
G
T
A
T
A
T
G
G
A
G
C
C
A
A
G
C
T
C
C
A
G
C
7000
E T Y Q D I S E L V Y G A K L Q 203
C
C
C
T
G
G
A
C
T
T
C
A
A
G
GTGAGT TGCAGATGTT ACCCCTGACC TCCGAGTTCT
7050
P L D F K 208
TCCTCTCCAC TCAGAGATTG AGGAGGTGGA GAAACAGCAT CCAAATTCAC
7100
ACTGCTTTGC TGCTGAAGAC TGCTGGAGGG CTGACTAAAA GTTAGAACCC
7150
CTGCAATAGT TATTCTTACT TGAAACCTGA GAAATCAAAG GTATCCAT
G
C
7200 |
var(7199):[T:0.05]
TTGGATTGTA GTGACTGCCC AGAAAACATG AATTAATAAT CAATTCTTCA
7250
TTCCATCCAC CAACTTCAAA TATATACCAA AGGGTGTTTT GAAGATGCCA
7300
GTTCTACAAG ATATCTTACT TAATTTGAAC TGTTAT
C
A
T
G
G
T
C
A
A
A
T
A
A
A
7350 |
REPEAT
G
T
T
G
G
T
A
C
A
T
G
A
T
G
C
A
T
G
T
T
A
C
A
T
T
C
T
C
C
T
C
T
T
G
G
A
G
A
T
T
C
A
T
G
A
A
G
C
A
C
7400
A
T
G
G
G
C
C
T
A
T
G
A
A
G
G
T
T
C
T
G
A
G
A
A
A
C
T
C
T
G
C
A
A
C
A
A
A
G
A
A
A
T
C
T
G
T
T
G
G
C
7450
T
T
T
A
T
T
C
A
A
T
C
G
G
C
A
T
T
C
C
T
C
A
A
A
T
G
T
A
T
T
T
G
A
C
T
G
C
A
T
G
G
GCATTTCTC
7500
TCCTCCATAT AACCTGCCAA CCCCATATAA CCTGCCAACC CCATATAACC
7550
TGCAATCATT CATTGCTTCC CCTGGCACAT GCCTTGGAAA TTCTACTTTT
7600
GTGAGTTAAG GTTTTCCAAA GTCAGAGAAA ATAATATTTT ATCTTCTTTT
7650
TCCCAGACTA TTTTCGCCTT CCTTCTTTTC ATTTATTTCT TCCTATTTCT
7700
TTTTGTTCTT TTTCTTCTGA TAATATTTAT TAACTACAGG AAAGATTCAT
7750
GGAACTATAT TAGATATGTG AGGCTTCCCC AATTTGGGTT AGAGCAATGG
7800
CTTCTTAATC AAATGGTGGG AAAGGACAGA GGGATGGTGA GAAAAATAAA
7850
ATGCTGCCTG GGAAAATGGA GAAGCCAATT GAATAGCACA GGTGAGTAGG
7900
TTTATTTTCT GTTCTCCTCA G
G
A
A
A
A
T
G
C
A
G
A
G
C
A
A
T
C
C
A
G
A
G
C
G
G
C
C
A
T
7950 | Exon 4
E N A E Q S R A A I 218
C
A
A
C
A
A
A
T
G
G
G
T
G
T
C
C
A
A
T
A
A
G
A
C
C
G
A
A
G
G
C
C
G
A
A
T
C
A
C
C
G
A
T
G
T
C
A
T
T
C
8000 |
var(7975):[T:0.01]
N K W V S N K T E G R I T D V I 234
C
C
T
C
G
G
A
A
G
C
C
A
T
C
A
A
T
G
A
G
C
T
C
A
C
T
G
T
T
C
T
G
G
T
G
C
T
G
G
T
T
A
A
C
A
C
C
A
T
T
8050
P S E A I N E L T V L V L V N T I 251
T
A
C
T
T
C
A
A
G
G TACTC
A
G
A
A
T
G
G
C
C
C
T
G
G
A
G
A
G
A
C
C
C
C
A
G
G
G
A
C
T
T
C
C
T
C
T
8100 |
REPEAT
Y F K 254
T
G
C
T
C
T
T
C
A
G
C
T
T
A
C
C
C
C
C
T
T
T
T
T
T
T
T
T
A
A
A
T
G
G
C
G
A
G
A
C
C
G
A
A
G
C
C
C
T
G
8150
A
G
A
G
G
G
C
A
A
A
T
G
G
A
C
T
G
C
C
G
A
A
A
G
C
T
A
C
A
C
A
G
GTACAGGT CAGCAGGGCA
8200
GGTCAATCTA TTATTTATTT ATTTATTTAT TTTT
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
8250 |
REPEAT
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
T
C
8300
G
C
C
T
C
C
T
G
G
G
T
T
C
A
C
G
G
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
8350 |
var(8313):[T:0.06]
A
A
T
A
C
A
G
G
C
A
C
C
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
G
G
T
T
T
T
T
T
T
T
T
A
G
8400 |
var(8389):[T:0.20]
T
A
A
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
A
T
A
G
T
C
T
T
G
A
T
C
T
C
C
T
G
A
C
C
8450
T
C
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
8500
G
C
C
A
C
C
G
C
G
C
C
C
G
G
C
A
G
A
T
T
G
G
C
T
T
C
T
T
T
C
A
C
C
T
A
G
T
A
A
A
A
T
G
C
A
T
T
T
A
C
8550 |
REPEAT
T
G
T
T
C
C
T
T
T
G
T
G
T
T
T
T
C
G
T
G
G
C
T
T
T
G
T
C
A
C
T
C
A
T
T
T
C
T
T
C
T
T
A
G
C
A
T
G
G
A
8600
A
T
A
G
C
A
T
T
A
C
A
T
T
T
G
G
T
C
T
G
G
A
T
G
T
A
C
C
A
C
A
G
T
C
T
G
T
C
T
A
T
T
C
A
T
C
T
A
C
T
8650
G
A
A
G
G
A
C
A
T
T
T
T
G
G
C
T
G
C
T
T
C
C
A
A
G
G
T
T
T
G
A
C
A
G
T
T
A
T
G
A
A
T
A
A
A
C
C
T
A
C
8700 |
REPEAT
T
C
A
T
A
A
T
T
C
C
A
T
C
A
T
T
C
T
G
A
C
A
C
A
G
C
C
A
T
T
G
T
T
A
A
C
C
T
T
T
T
T
G
T
G
C
A
T
A
T
8750
C
C
C
G
C
C
A
G
T
C
T
T
T
T
T
T
C
C
G
A
A
T
A
A
T
T
A
T
A
T
A
T
T
A
A
T
G
T
A
A
C
A
C
T
A
T
A
A
T
A
8800 |
var(8773):[G:0.02]
T
G
G
A
T
A
T
G
T
C
T
T
G
T
G
T
C
A
A
T AACTATCCTC CTATGAATGT TTGTGTTCTT
8850
ACTTTGTGAT TCTCTTCCAG
G
G
C
C
T
G
T
G
G
A
A
G
T
C
A
A
A
G
T
T
C
A
G
C
C
C
T
G
A
G
8900 | Exon 5
G L W K S K F S P E 264
A
A
C
A
C
A
A
G
G
A
A
G
G
A
A
C
T
G
T
T
C
T
A
C
A
A
G
G
C
T
G
A
T
G
G
A
G
A
G
T
C
G
T
G
T
T
C
A
G
C
8950
N T R K E L F Y K A D G E S C S A 281
A
T
C
T
A
T
G
A
T
G
T
A
C
C
A
G
G
A
A
G
G
C
A
A
G
T
T
C
C
G
T
T
A
T
C
G
G
C
G
C
G
T
G
G
C
T
G
A
A
G
9000
S M M Y Q E G K F R Y R R V A E 297
G
C
A
C
C
C
A
G
G
T
G
C
T
T
G
A
G
T
T
G
C
C
C
T
T
C
A
A
A
G
G
T
G
A
T
G
A
C
A
T
C
A
C
C
A
T
G
G
T
C
9050
G T Q V L E L P F K G D D I T M V 314
C
T
C
A
T
C
T
T
G
C
C
C
A
A
G
C
C
T
G
A
G
A
A
G
A
G
C
C
T
G
G
C
C
A
A
G
G
T
A
G
A
G
A
A
G
G
A
A
C
T
9100 |
var(9089):[G:0.46]
L I L P K P E K S L A K V E K E L 331
C
A
C
C
C
C
A
G
A
G
G
T
G
C
T
G
C
A
A
G
A
G
T
G
G
C
T
G
G
A
T
G
A
A
T
T
G
G
A
G
G
A
G
A
T
G
A
T
G
C
9150 |
var(9119):[G:0.47]
T P E V L Q E W L D E L E E M M 347
T
G
G
T
G
G
T
C
C
A
C
A
T
G
C
C
C
C
G
C
T
T
C
C
G
C
A
T
T
G
A
G
G
A
C
G
G
C
T
T
C
A
G
T
T
T
G
A
A
G
9200
L V V H M P R F R I E D G F S L K 364
G
A
G
C
A
G
C
T
G
C
A
A
G
A
C
A
T
G
G
G
C
C
T
T
G
T
C
G
A
T
C
T
G
T
T
C
A
G
C
C
C
T
G
A
A
A
A
G
T
C
9250
E Q L Q D M G L V D L F S P E K S 381
C
A
A
A
C
T
C
C
C
A
G
GTTTGTCTA GGAAGGAGTT TCCTCCCTTC TCCACCCGCA
9300
K L P 384
AGGTAGT
C
T
G
A
C
C
A
A
A
A
G
T
G
G
A
A
G
A
G
T
T
G
G
A
G
A
A
A
G
A
A
T
A
G
A
A
A
G
G
A
G
C
A
9350 |
REPEAT
A
C
A
A
G
T
C
A
G
G
A
C
T
C
C
T
G
G
A
T
A
C
T
G
A
T
C
C
T
A
G
T
T
T
C
T
A
C
T
G
C
T
A
A
T
T
T
G
T
G
9400
G
A
A
A
T
C
T
C
T
T
T
T
C
C
T
T
T
T
G
A
G
A
C
C
T
C
A
G
T
T
T
C
C
T
C
T
T
C
T
G
T
A
A
A
A
G
G
G
A
A
9450
G
T
T
T
G
T
T
C
T
T
G
G
A
T
C
T
C
C
A
T
G
G
G
C
C
C
A
G
C
T
A
G
C
A
C
T
G
G
T
G
C
C
C
T
G
T
G
A
G
T
9500 |
var(9480):[C:0.45]
C
T
G
T
ATCAGG TAGAGGAGAT GGGACCAGGT GGAGAGGAAT TTGAAAGGGC
9550
ATTGGAATTC AGAGCAAAGA GACAGATATT AAGAGCTGGG GAAATGTGGT
9600
TCCCATTACA CAGGCCTCAC TGACAT
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
9650 |
REPEAT
T
T
A
C
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
A
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
C
G
G
T
G
9700
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
A
T
9750
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
A
C
G
T
C
A
C
C
A
T
A
C
C
T
G
9800
G
T
A
A
T
T
T
C
T
G
T
A
T
T
C
T
T
A
G
T
A
G
A
G
A
T
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
A
T
9850 |
NOT SCANNED
G
G
T
C
T
T
G
A
A
C
T
C
T
T
G
A
C
C
T
T
G
T
G
A
T
C
C
G
C
C
T
G
C
C
T
T
G
G
C
T
T
C
C
C
A
A
A
G
T
G
9900
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
C
A
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
A
C
A
T
T
A
A
A
A
T
A
T
C
T
T
T
T
9950
A
A
A
G
A
A
G
T
T
G
G
C
T
G
G
C
C
A
G
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
A
C
C
A
G
C
A
C
T
T
T
G
10000 |
REPEAT
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
G
T
C
T
A
A
G
C
C
C
A
T
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
10050
G
G
A
C
A
A
C
A
T
A
G
T
G
A
G
A
T
G
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
G
10100
C
A
T
G
G
T
G
A
C
G
C
A
C
A
C
C
T
G
T
A
G
T
C
C
T
A
G
C
T
T
C
T
T
G
G
G
A
G
G
C
A
G
A
G
C
T
G
G
G
A
10150
G
G
A
T
T
G
C
C
T
G
A
G
T
C
C
G
G
G
A
G
G
T
C
A
A
C
G
C
T
G
T
G
G
T
G
T
A
C
T
G
T
G
A
T
C
A
C
A
C
C
10200
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
A
G
C
A
A
C
A
G
A
G
T
G
A
G
G
T
C
C
T
A
T
C
A
C
T
A
A
A
T
A
A
A
T
A
10250
A
A
T
A
A
A
T
A
A
T
A
A
A
A
T
A
A
G
T
T
T
A
C
G
A
T
G
T
T
A
A
G
T
A
A
T
T
A
G
A
T
T
T
A
T
C
T
T
T
A
10300
TTGACC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
A
A
G
T
C
T
T
G
C
T
C
T
T
G
T
C
C
10350 |
REPEAT
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
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
C
10400
C
C
C
A
G
A
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
G
A
G
C
T
A
G
G
A
T
T
A
10450
C
A
G
G
C
G
C
C
T
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
C
A
T
T
T
T
T
A
G
T
A
G
A
A
A
C
G
10500
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
G
G
C
G
A
10550 |
NOT SCANNED
T
C
T
A
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
C
A
G
G
C
G
T
G
A
G
C
C
A
C
T
10600
G
T
G
C
T
A
T
T
G
G
G
C
T
G
T
C
T
T
T
A
A
G
C
T
A
G
T
T
T
T
G
A
A
A
A
C
T
A
A
A
A
A
T
G
T
T
G
C
C
A
10650
G
A
C
T
G
G
A
A
A
G
A
A
A
G
A
T
G
T
T
C
C
T
T
C
T
G
G
A
T
G
G
A
G
T
G
A
G
T
T
T
T
T
T
C
T
G
T
A
A
G
10700
A
A
C
A
G
A
G
T
C
T
T
G
C
C
G
T
T
T
C
T
C
T
C
T
C
C
C
A
C
A
A
A
A
A
G
C
T
G
A
A
G
C
C
T
G
A
G
A
A
T
10750
G
A
A
T
T
A
T
C
A
G
G
A
G
C
C
A
T
G
C
T
G
A
A
C
A
A
G
C
C
C
A
A
A
G
T
A
C
T
T
T
T
A
T
T
A
T
T
A
T
T
10800 |
REPEAT
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
T
T
T
G
A
G
A
T
G
C
A
G
T
T
T
T
G
10850
C
T
C
T
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
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
10900
C
C
T
C
C
A
C
C
T
C
C
C
G
A
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
T
C
T
T
C
C
A
A
G
T
A
G
10950
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
C
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
C
A
11000
C
G
A
T
A
G
A
G
A
C
A
A
G
G
T
T
T
C
A
C
C
A
T
A
T
T
A
G
T
T
A
G
A
G
T
G
T
C
T
C
C
A
A
C
T
C
C
T
G
A
11050
C
C
T
C
A
G
G
T
G
A
T
C
T
G
T
A
C
A
C
C
T
T
G
G
C
C
T
C
C
C
G
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
11100
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
A
G
C
C
C
C
C
A
A
A
G
T
A
C
T
T
T
A
T
T
A
T
T
T
T
T
A
A
C
A
C
A
T
A
11150
T
T
C
A
T
T
G
T
G
A
GAGTATGATT AGGTGAAGAT TTAGGATTTC TTCTTATGTT
11200
TCAAAAAGCC CCAAAGGATC TCTTAATCCA AACTGAATTC CCATCTGTGG
11250
GTTGAAGCCA ACTTTCTCCC ATCTCACAAA GACTTCTCCG GTCTTCCTTC
11300
CAG
G
T
A
T
T
G
T
T
G
C
A
G
A
A
G
G
C
C
G
A
G
A
T
G
A
C
C
T
C
T
A
T
G
T
C
T
C
A
G
A
T
G
C
A
T
T
C
11350 | Exon 6
G I V A E G R D D L Y V S D A F 400
C
A
T
A
A
G
G
C
A
T
T
T
C
T
T
G
A
G
GT GAGTACACCT TCCCCACTCT CTTA
G
GGTAC
11400 |
var(11395):[C:0.09]
H K A F L E 406
AGAAAGGAGA TGCATGAACA GCAGGAACAC GTGGAAAAGG CCTGTTTCCA
11450
GTGTTAAGGC ATGCAAAAGG CCTCCACAGG CCTGCTATAA TACAGCCCTC
11500
TCCAAAACCT TCATGGTGTG ATTGTTCTGC CTTCCCTCCC ACTACCTCTT
11550
CTGTAGCAGG TCAAGC
G
G
G
A
A
C
A
C
A
A
A
C
A
T
T
T
A
G
G
G
A
G
G
G
T
G
A
T
A
T
A
G
G
A
11600 |
REPEAT
A
A
A
G
A
A
G
C
C
A
G
C
A
A
A
G
G
C
C
A
T
C
A
A
G
A
A
G
A
A
A
T
T
T
A
C
A
G
C
A
T
G
A
G
G
A
G
A
A
C
11650
C
A
G
A
A
G
A
G
T
A
T
G
G
G
G
T
C
G
C
A
G
A
A
A
C
C
C
A
G
G
G
A
G
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
11700 |
REPEAT
G
A
G
A
C
A
G
A
G
C
T
T
C
G
T
T
C
G
C
T
C
G
T
T
G
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
A
T
G
G
T
G
C
G
A
11750
C
A
G
C
T
C
A
C
T
A
C
A
A
C
T
T
C
T
G
C
C
T
C
C
C
G
C
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
11800
G
C
C
T
C
C
T
G
G
G
T
A
G
C
T
G
G
G
A
T
G
A
C
A
G
G
C
A
T
G
T
G
C
C
A
T
C
A
C
G
C
C
C
G
G
C
T
A
A
T
11850
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
A
A
C
A
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
A
G
G
T
C
11900
T
T
G
A
A
C
T
C
C
C
G
A
T
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
T
C
C
T
T
G
G
C
A
C
C
C
C
C
A
A
A
G
T
G
C
T
11950
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
G
G
C
C
A
A
C
C
T
A
G
G
G
A
G
A
A
G
T
T
T
T
12000 |
REPEAT
A
A
G
A
A
A
A
T
G
G
A
T
A
G
C
A
T
C
T
A
G
T
A
A
G
A
A
G
A
C
T
C
C
T
G
G
G
C
T
G
G
G
C
A
T
G
G
T
G
G
12050 |
REPEAT
T
T
C
A
C
A
C
C
T
G
T
A
A
C
C
C
C
A
G
C
A
C
C
T
T
G
G
G
A
G
G
C
T
G
A
G
A
T
G
G
A
A
G
A
A
T
C
A
C
T
12100
T
G
A
G
C
C
C
A
G
G
A
G
T
T
T
G
C
A
A
C
C
A
G
C
C
T
G
A
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
12150
C
T
A
C
C
A
A
A
A
A
A
A
T
C
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
T
T
T
G
G
A
G
A
C
T
G
C
C
C
A
T
A
12200 |
REPEAT
G
T
T
T
A
C
C
T
T
T
C
C
C
T
G
A
G
G
A
C
A
G
A
A
T
A
G
T
G
T
G
G
C
C
A
C
A
T
G
C
C
T
A
A
T
T
G
T
A
A
12250
T
G
G
A
T
G
A
A
G
A
G
C
A
A
A
T
G
G
A
A
G
G
T
A
A
G
A
A
A
G
G
G
A
A
G
C
T
G
G
T
G
A
G
T
G
T
G
C
A
T
12300
C
A
G
T
G
T
C
T
T
A
A
A
G
T
G
T
GCTC CAACTAGAGC ACTAGACTAC ACTGGAGGAA
12350
ACGAAAAGG
T
G
G
T
C
A
A
A
T
A
A
A
T
G
C
A
T
A
T
C
C
T
C
T
C
A
T
G
G
G
A
G
A
T
G
A
A
C
A
G
T
12400 |
REPEAT
A
C
A
C
A
C
T
G
A
C
A
T
G
C
T
G
A
G
G
T
C
T
G
A
C
A
A
G
T
C
C
C
A
C
A
G
T
A
A
A
G
A
A
G
A
C
G
G
T
T
12450
G
A
A
T
A
T
C
A
C
T
T
A
A
C
G
T
G
T
T
C
C
C
C
C
A
A
A
T
G
A
G
A
T
G
T
G
C
A
T
G
G
A
A
C
CCTGTG
12500 |
var(12489):[C:0.09]
TTAGAGTAAT AGCCGTGTAC AGCCTGTGGA ACTTCTGGTT CTCAAGTAAA
12550
CACT
A
AACTA TGGACCAACA GCAGTAGTTA TCTGGGGAGC TTTATCT
T
T
G
12600 |
var(12555):[C:0.10]
|
REPEAT
G
A
G
A
T
T
C
T
G
G
G
A
T
G
G
G
C
C
C
T
G
A
G
A
A
T
C
T
C
T
G
T
A
T
G
T
A
C
T
A
A
A
C
T
C
C
T
C
A
G
12650
G
G
G
A
T
T
C
T
T
A
T
G
C
A
C
A
A
T
G
A
G
A
T
T
T
G
G
G
A
A
C
C
A
C
T
G
GTAT AGACTATTTT
12700
TT
T
GCGGGAG CCAGGCTGTG AGGGATAGGA GATTGGACAA TGGTAGAGAT
12750 |
var(12703):[-:0.89]
GTTCCTAGAA TCAAAGAAAT CGAAAAGAAT GAAGGTTGTA GTCAAAGAGA
12800
AAGGTTTCAG AGGATGGTGC TAAGTAAATA TAGATCCAGG GATCAAACTC
12850
AGAGGAAAGT GGAATTTTAA
C
GGGAGC
G
A
G
G
A
A
A
T
G
T
G
A
T
A
G
C
T
T
G
A
A
A
G
12900 |
var(12871):[T:0.01]
|
REPEAT
A
A
C
A
C
A
A
G
G
T
T
A
T
A
A
T
C
T
G
A
G
A
A
A
A
G
G
A
T
G
C
T
A
T
T
A
A
T
A
T
A
A
T
T
T
C
A
A
A
G
12950
G
T
A
G
A
G
T
A
G
T
T
C
T
G
A
G
A
T
G
G
C
A
A
G
T
C
C
A
A
G
G
T
G
T
A
G
C
C
A
T
G
G
A
C
A
G
G
T
T
T
13000
G
C
T
T
A
A
G
T
G
G
A
A
T
G
A
A
G
G
C
A
A
T
G
C
T
C
A
T
T
A
G
G
T
T
T
G
A
T
G
A
A
A
G
A
A
A
T
G
G
G
13050
A
G
A
C
T
A
G
G
G
T
G
T
T
G
A
A
C
G
G
G
T
C
T
C
C
T
A
A
T
G
A
G
A
T
T
T
T
T
T
T
T
T
T
T
C
A
T
T
G
A
13100 |
REPEAT
|
var(13097):[C:0.04]
A
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
C
T
C
G
C
C
T
A
G
G
C
T
G
G
A
A
T
G
C
A
G
T
G
G
T
A
T
G
A
T
C
T
C
A
13150
G
T
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
C
C
T
C
T
C
G
C
C
T
C
A
G
C
13200
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
C
A
C
G
C
C
C
G
A
C
T
A
A
A
T
T
13250
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
13300
C
A
A
A
C
T
C
C
T
G
A
C
C
T
T
A
A
G
T
G
A
T
C
C
A
C
C
T
G
A
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
13350 |
var(13327):[-:0.02]
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
G
G
C
C
T
A
C
T
G
A
G
A
T
A
T
T
T
T
A
A
T
T
G
13400 |
var(13353):[-:0.17]
|
REPEAT
C
C
T
C
A
A
A
T
G
A
T
A
G
C
A
G
G
A
G
T
T
G
G
A
G
T
G
G
A
C
A
G
A
A
A
G
G
C
T
A
A
G
T
G
C
A
A
A
A
A
13450
T
C
A
T
C
A
G
T
G
T
G
G
G
G
A
T
A
T
A
A
T
C
T
A
T
A
G
G
A
C
A
A
T
G
A
A
T
G
T
C
A
A
T
G
A
C
C
T
T
T
13500
A
A
G
A
C
A
A
T
A
G
C
A
A
G
A
G
T
A
G
A
G
G
T
A
T
T
G
A
G
G
T
C
A
G
A
A
C
A
A
G
G
G
A
T
T
T
T
A
C
A
13550
A
G
A
G
T
G
C
T
G
T
A
T
T
A
A
T
G
G
T
T
T
T
G
G
A
A
G
T
T
A
A
G
A
T
G
A
C
A
C
T
G
C
T
C
A
C
A
C
C
C
13600
T
C
T
T
T
C
A
C
A
T
G
G
A
T
T
T
T
T
G
G
A
A
G
A
A
A
G
A
A
C
A
C
T
T
A
G
G
A
A
G
A
C
T
G
C
A
A
G
G
G
13650
A
A
A
T
T
G
A
G
T
C
C
T
C
A
G
G
G
TTT TAACTCTCAT TGAATATCCT CTGGTAAGGA
13700
CTCCAGTTAG AAGTGGTCAA CTCAGACCTC CTTGAGGGGT CTGAGTTACT
13750
ATTAGGAAGA AGCAGAGGTC TGGATTCATT TTATCCACCT GAGCCCAGTA
13800
CACAATATGT AAGATTTTTC CATGGTTCTT ACAACAAAGC CGTTTTCTTT
13850
GAAAACCTTG GGAATCCTTA ATAAACAGGA CCCCAACTAA TTGTAGA
C
CT
13900 |
var(13898):[T:0.10]
GAGAAGCCAT TAAAAACCAG AATCTGATTT GAATAAAAGG ATCCTGGTCA
13950
TGCAAACACT CTAGTCTGCT AATAAGCTAA TAATTTAGTG CTGGAATGAG
14000
CATGAAATAG GTAATATGGG GAGATAGCGG GTAAGGAAGG GAGGAACAAA
14050
GGAAGGGGAA GGAAGAGTGA GAAGGAAGGA GAAGACATCA TCAACCAGCT
14100
CCACAAAACC CAGGGAGCCG GTTAATCATG TGCTTTCATT AAGAGCAGAA
14150
ACAGAGTTTT AGTGATATTC TGGGTCCTGA GGCAAAATTT TCTGAAGGTG
14200
TTTCCCTCTA GATCTGCTTA TCAGCCATGT TCAAATACCA TTGTTTCAGT
14250
CTATTACTCC AAGAAAATGG CATCTCGTCC AGCCAGAGAA CCCACCTCTT
14300
TTCATAGGCC CTAGGTCCTG AGTGGCTCTT TGGAGTAGCT GTATCTTGGA
14350
TCTTGATGCT CCAAGAGTGA AACTGTTTCT TTCAACTATG GAGTTCAGAT
14400
CTTGAGCCAA AAATCTTTCA GCGGCTGGTA CAAAAAAAAT CC
G
CTGTAAA
14450 |
var(14443):[A:0.01]
ACCATTTACA ATGGTACCAG CCAGAAATGT GATAACCTGT GTACATTCAG
14500
ATTTCTGGGT TACCTGAATG GAACTCTTAC ACTTATTACC TAGCACAAGG
14550
CTTGGACAAA CACAAGTACC TTACATTCTC TGCATGAAAG AATGAGTAGA
14600
AGTAGGATTC TGGAGGGAAT CCAACCTGAC CCAAATGTAC TTTTTACTGG
14650
AAAACAAAAG CATTTGAGGA ATTGCTGTGT CTGTGGATGA TTTACCTGCC
14700
AAAAATGAAC GGCAGAGTGG CTAATTTAGT TTTATTTCCC ATGTGACCTG
14750
CAG
G
T
A
A
A
T
G
A
A
G
A
A
G
G
C
A
G
T
G
A
A
G
C
A
G
C
T
G
C
A
A
G
T
A
C
C
G
C
T
G
T
T
G
T
G
A
T
14800 | Exon 7
V N E E G S E A A A S T A V V I 422
T
G
C
T
G
G
C
C
G
T
T
C
G
C
T
A
A
A
C
C
C
C
A
A
C
A
G
G
G
T
G
A
C
T
T
T
C
A
A
G
G
C
C
A
A
C
A
G
G
C
14850
A G R S L N P N R V T F K A N R 438
C
T
T
T
C
C
T
G
G
T
T
T
T
T
A
T
A
A
G
A
G
A
A
G
T
T
C
C
T
C
T
G
A
A
C
A
C
T
A
T
T
A
T
C
T
T
C
A
T
G
14900
P F L V F I R E V P L N T I I F M 455
G
G
C
A
G
A
G
T
A
G
C
C
A
A
C
C
C
T
T
G
T
G
T
T
A
A
G
T
A
A
AATGTTCTTA TTCTTTGCAC
14950
G R V A N P C V K 464
CTCTTCCTAT TTTTGGTTTG TGAACAGAAG TAAAAATAAA TACAAACTAC
15000
TTCCATCTCA CATTATAAAT GGACTCTGCA TTTGAAATGA AGACAAGGAA
15050
AGGGGAAACA TGCTATTGGG GCACATGGTA AAATGATGCC TTCAAGTTGT
15100
TCTTTACCCA GTAACCACAT CTGGATCAAG AAAATGAGGG AGAGAGCGAT
15150
AAAAGATGGT AGACAGCCAG AAAGGGAAGG GAGAGTGAAT TCTCAGTATT
15200
TCCATCACAC TAAAACATAT CAAAAATTTA AACAGATTAG TTTCTATATA
15250
CAGAAAAGAC AGATTCAAAT CTGAGTATTA AACCATTTAA TTCTCAAACC
15300
ACTCACATGC ATAATGTTCT TTTACACAGT GTTAAAATAA AGGGGAAAAT
15350
GCATTTTTAT ACAAACAGAA TTTCAAGTAT ACATTAATAG ACTTTTCAGA
15400
TTACTAACCA AGTTGCTAAG ATTTCATTCA CATTGTTCTT AAAGCTGTTC
15450
AACGAGAAAG CTTTTGCTAA ACTGCTTTAA ATATGTTTAT ATAAACCCAT
15500
ATTTTCACTC TT
T
CTTTGAA CTCCCTCCCC CAACCCGAGT CTCTGCCCAC
15550 |
var(15513):[G:0.01]
CCTCCTGCCC TCCCCCCTTC CCCGACACGA CAGGGGTCCT GGGGCTCTAG
15600
GAGACATGCA ACCCCACCAA GAACTATTGG CTTGTCATCA GGGGAAGGAC
15650
AGAATCTTAC AGGAGGAGAG ACTGAGAACA CCTGTCAAAT GAAGGGAGAA
15700
CAAATCTGAT ACTTAGAAAT GACACAAATC AGGATCGTGT CTTAGAGTCT
15750
TTGTGTTTTC ACTTGATTTT TAATTTAAAA AATCTCAGCC TCCCACAAA
A
15800 |
var(15800):[C:0.01]
CACCACCAAA GTTTCTGACA AATTGGTAGC TGTGAAAATA ATCTTAGGTA
15850
GTTTTTCCCC AGTGAAACTT CCAAAATCAG GACAGGTATT TAGAACCCTT
15900
TTTCAATTTG GCGGTTCTTT TTCCCTTTGG CATGGAGTGG GGGCCACTTA
15950
AAAGTGGATG TTATTACTTG TGTGTTTACA TTAAGAAATT TGGTTCATTT
16000
CACAGGGTCT GGTAAGAGCT CTCCCTCCTT AACTCTCCTC CTGAAGTAAT
16050
CTGGTTTCAG GGCCAGGAAC AGCCACTCTC CTTAGGAATT AAAGTGCATT
16100
TTTTTTCGGT AAAGGGAAAG AGGGGGAGGT GGAGGTTTAC ACTTAAGTGA
16150
T
AATGATTAA AGTAGGGTTG GGTGAGAGAA AATCCTA
C
TC CTATATATAG
16200 |
var(16151):[C:0.01]
|
var(16188):[T:0.07]
GTATTTATAA TTAAGGTCAT AATAAAAACT GATATTCTTA GGAAATAAGA
16250
TGCACAAAGC CAGTCTAGCA CCCTCAGTGG TGCAAGAGCA CTATTCTGGT
16300
TCACTGACTT TCCCGAGGCA TCTTTACTAT