C4BPB Color FASTA
The longest form of insertion/deletion sites is shown in the FASTA sequence and contain a '-' as the alternate allele in the variation tag.
*Display courtesy of
GeneSNPs
C
C
A
G
T
T
G
T
A
G
C
A
T
C
T
G
A
A
T
G
T
T
T
C
C
T
C
A
T
T
A
A
T
T
A
A
T
G
A
G
T
T
G
A
A
T
T
A
A
A
50 |
REPEAT
T
C
T
T
T
G
A
T
A
T
A
T
A
T
T
C
A
T
C
T
T
A
T
A
T
T
T
A
C
T
T
G
T
G
T
C
A
T
A
T
T
T
T
T
A
A
C
T
T
T
100
T
T
G
A
A
A
A
T
C
A
T
GTCTTAGAG GGTGCTTACA CTATAGGAAT
T
TGCATATTA
150 |
var(141):[C:0.01]
GTTAAGAAAA GATAAGACAT AAAAAATCAT AAGGCAGCAT GTGATAAATG
200
GCAAGTGATC ATATGGATTT TGGGGGCTGT GGTAGAGTTT CTGGATGACA
250
GTTTTTTTCA TTTATTTCTG CATTACT
T
T
C
A
T
T
C
A
T
T
T
A
A
C
A
G
A
C
A
A
C
T
G
300 |
REPEAT
C
T
T
T
G
C
A
A
T
A
T
G
A
A
G
C
A
C
C
G
T
G
G
A
A
G
G
G
A
A
T
A
C
A
A
A
T
A
C
A
A
A
T
C
A
G
A
C
A
C
350
A
A
A
C
C
C
T
G
T
C
C
T
G
G
A
G
T
T
A
G
C
A
G
T
T
T
C
C
T
G
T
G
G
G
AATAA
A
G
G
G
G
A
G
G
A
A
A
400 |
REPEAT
A
A
A
A
C
A
C
C
T
T
T
C
C
T
C
T
A
C
C
A
T
A
T
T
G
T
A
T
T
C
A
G
T
G
G
C
T
G
G
G
A
C
C
T
G
C
A
A
A
T
450
T
A
G
A
C
T
A
A
G
A
C
A
G
A
T
T
A
A
C
A
G
G
A
G
A
G
A
A
A
A
T
T
C
T
A
T
T
T
A
T
A
C
A
T
G
T
A
A
C
T
500 |
var(462):[G:0.01]
T
G
A
G
T
A
C
A
T
G
T
G
G
G
A
A
A
A
C
T
C
A
G
T
G
A
T
A
A
G
T
A
A
T
T
C
A
A
A
A
A
G
T
T
G
G
T
T
A
G
550
A
A
T
T
G
G
G
G
C
T
T
A
T
A
C
A
T
C
A
T
C
T
T
AATAGGT GAAGGTGGGG AGAAGAAAGG
600
C
A
CTTACAAG AAAACAGATT ATT
G
G
C
C
G
G
G
T
G
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
A
T
A
650 |
var(602):[G:0.23]
|
REPEAT
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
T
G
G
A
T
C
A
T
T
T
G
A
G
G
T
C
A
G
G
A
G
700
T
T
C
A
A
G
A
C
C
A
G
T
T
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
750
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
A
G
C
G
C
A
T
G
C
C
T
G
T
A
A
T
C
T
C
A
G
C
T
A
C
T
C
G
G
800
G
A
G
A
C
T
G
A
G
G
C
A
C
A
A
G
A
A
T
G
G
C
C
T
G
A
A
C
C
T
G
G
C
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
850
A
G
C
C
A
A
G
A
T
C
A
T
G
C
C
A
AGAC ACCATCTCAA ACAAAAAAGA AAACAGATTA
900
TTTTTTGGAA AGGCAAGTGG GTTTTCAGGG GAAAAGTAGG AAATTAGAAA
950
GTTTTGTGAT AATGTTTGTG TATATAAGTA CGAGTGTTCT TTCTGTCTCC
1000
TTCAAGGCCA TGAAATTTCT CTGGAGAAGG AATTTGAAAT ATGTTTTACT
1050
CATGCTCTCC CCTCCAGGAT AGACCTACCC TGAAAAGGAA TTTATGGCAA
1100
CCTTATCTCC AAGGTTGCTG CCTTTAGTCA GATAAGGAAA GCCCCC
A
AAA
1150 |
var(1147):[C:0.01]
TCTCTGTTCC TTTCCATATC ACTGAA
T
C
T
C
A
A
A
T
A
T
C
T
T
C
A
G
C
T
T
A
A
A
A
G
1200 |
REPEAT
A
A
T
C
T
T
A
A
C
G
C
C
A
A
A
T
A
T
T
T
G
G
G
G
G
T
G
G
C
A
T
A
T
C
C
T
G
A
T
T
C
C
T
T
T
C
A
G
GA
1250
GAAAGACATA GATTAATCAT CACAAACAGT AGTAATGGAT GG
A
GAAGAGA
1300 |
var(1293):[G:0.19]
AGAACATTTG CAACCTTACT GTGTCCTTAA TGCTTTATTA TTCTATTAAA
1350
ACCTGAAATT TTGTAGGAAT TTTTCCCCAG TTTCATAATT ACAGCACAGA
1400
G
AACCAACCA AGGGTTATAG TAGTCACAAG CAAGATGATA TGGGATCCCT
1450 |
var(1401):[C:0.04]
CAAAACAATT TTACATGCCT TAATTCCTGA GACCAAAGCA TTCTCCTCAC
1500
CTCTCTCTTT ACTCATTTGG TTAACTCTGG ACTCAGGCCA AATCCTGTCC
1550
CTGGAAGAGC CACAAAGTAG GAAGCCTGGG TACAGGCCTG GCAAGCGAGA
1600
ACAATGTGTC ACTGCAGGAC TTTGGAGCTC TCAGCTTTGG AGTCAGTTAA
1650
GACCAGTTCC TTGCTGGGAA GCCCTAACTC TGGAGGGACA GAGACAGGT
A
1700 |
var(1700):[G:0.06]
AGGTTAGTTT ACTTCCTTGA GCTTTCGTCT TCAGTGCTGC TTACAGCCTT
1750
AGGATATCTG GTATTCAGGA AAGGAGGATG AGGTAGCATT CAAAATTGTG
1800
TTCTACCTGG GCAAGAACCA GGGATTGACA GCCCGTTCTC TTTCCCCAGT
1850
GCTGGCCAGA GTTACAGAAG TTGGACTGTA AACATTGGCA ACTATTGACA
1900
GAAGTCAAGG TCATGGCAAG ACCATTTGGC CCATGTTTGT TGGGGAAGGA
1950
TAAGCCTGCG TTTCAAAAAG ACTGGTCAAC TGGATTTGC
A
T
T
C
C
C
A
G
A
A
A
2000 | Exon 1 |
UTR
C
C
A
G
G
A
A
A
T
T
T
C
T
G
A
A
A
C
T
G
A
G
T
T
T
T
A
A
A
C
C
T
G
G
C
A
A
C
T
C
T
T
T
T
A
C
C
A
T
C
2050
C
C
T
T
T
G
T
A
T
T
T
T
T
G
C
A
G
T
T
C
C
T
C
C
C
T
A
T
A
C
C
A
G
C
T
T
C
C
T
T
A
C
A
G
C
T
G
T
T
C
2100 |
var(2056):[A:0.05]
T
G
A
T
T
T
C
C
T
G
T
C
G
T
A
A
G
A
T
T
T
T
T
T
C
T
T
T
T
C
A
T
T
T
T
C
T
C
C
A
G
G
G
A
G
G
G
T
A
A
2150
A
T
C
A
A
T
A
T
A
A
C
C
T
C
T
T
C
T
C
T
A
G
A
G
A
G
G
A
G
G
T
G
G
T
T
A
G
G
T
T
G
G
T
C
T
T
A
A
G
C
2200
A
G
T
G
T
T
A
G
A
A
G
A
T
C
T
A
T
T
T
T
T
T
T
T
C
A
A
A
C
C
A
G
G
T
G
T
C
T
G
A
G
C
T
G
G
G
T
G
A
A
2250 |
var(2210):[T:0.02]
T
T
C
C
A
G
C
C
T
G
G
G
G
A
G
A
G
G
A
C
T
T
T
G
A
T
C
A
C
C
A
G
A
T
G
T
T
T
T
T
T
T
G
G
T
G
T
G
C
G
2300
M F F W C A 6
T
G
C
T
G
T
C
T
T
A
T
G
G
T
T
G
C
G
T
G
G
C
G
A
G
T
T
T
C
T
G
C
T
T
C
A
G
A
T
G
GTACGTATGC
2350
C C L M V A W R V S A S D 19
TTTCCTTCAA CTCAGCTTAC AGGCATTTGG TGTCC
T
TTTG CGGTGTTTTG
2400 |
var(2386):[G:0.49]
AGGAACTCTG TCTAGGGCTT TAAGGAAGTT TACATTTATA ATATCTTTAT
2450
TCTTCTATTG AAAAATCTCA AATTGGCCTA ATGCTCTGCA CTCAATAGGA
2500
GCTTAGTGTA CATTTAATGA TAACCCTGAT CTCTGAAGTG GGTGGTTACT
2550
GTTT
T
T
T
T
A
C
T
T
T
C
C
C
T
T
T
C
T
G
T
T
C
T
G
G
G
A
G
C
A
A
A
A
A
G
A
G
T
A
C
C
A
A
T
T
T
C
2600 |
NOT SCANNED
A
A
A
A
T
C
C
T
G
G
G
A
G
G
T
C
T
T
A
C
T
T
G
T
T
A
T
A
A
A
C
T
C
C
A
G
G
A
T
C
G
C
T
A
T
T
T
G
T
G
2650
T
A
G
G
G
G
A
C
T
A
T
T
T
G
T
T
T
A
G
A
A
G
T
G
G
A
C
A
A
C
T
T
G
T
G
G
T
T
G
A
A
T
T
T
G
A
G
T
A
A
2700
A
A
T
T
C
C
T
G
T
T
A
T
A
C
T
T
T
T
G
A
A
A
A
T
A
A
A
A
C
T
T
C
G
G
A
A
T
T
C
C
G
G
C
C
G
G
G
C
G
C
2750 |
REPEAT
A
G
C
G
G
C
T
C
A
A
G
C
C
T
G
T
A
A
T
C
C
C
G
G
C
A
C
T
T
T
G
A
G
A
G
G
C
C
G
A
G
G
T
G
G
G
C
G
G
A
2800
T
C
A
C
G
A
G
G
T
C
A
A
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
G
A
C
A
G
T
G
A
A
A
C
C
C
C
G
2850
T
C
T
C
T
G
C
T
G
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
C
G
G
G
T
G
C
C
T
G
T
2900
A
G
T
C
C
C
G
G
C
T
A
C
T
T
G
G
G
A
G
T
A
G
A
A
T
A
C
A
G
A
G
T
A
C
T
T
G
G
G
A
A
G
AGCACAGG
2950
AATCAGGATC AATAATCCAG CAAAAAGACA TGAGAATGGG GAAATCTAAT
3000
AAGGGTTCTC TGACAGCACA TGATATGCCA AGTGAATCTG TTTTCTTTTT
3050
TCTTCCAG
C
A
G
A
G
C
A
C
T
G
T
C
C
A
G
A
G
C
T
T
C
C
T
C
C
A
G
T
G
G
A
C
A
A
T
A
G
C
A
T
A
T
3100 | Exon 2
A E H C P E L P P V D N S I 33
T
T
G
T
C
G
C
A
A
A
G
G
A
G
G
T
G
G
A
A
G
G
A
C
A
G
A
T
T
C
T
G
G
G
G
A
C
T
T
A
C
G
T
T
T
G
T
A
T
C
3150 |
var(3105):[T:0.02]
F V A K E V E G Q I L G T Y V C I 50
A
A
G
G
G
C
T
A
C
C
A
C
C
T
G
G
T
A
G
G
A
A
A
G
A
A
G
A
C
C
C
T
T
T
T
T
T
G
C
A
A
T
G
C
C
T
C
T
A
A
3200
K G Y H L V G K K T L F C N A S K 67
G
G
A
G
T
G
G
G
A
T
A
A
C
A
C
C
A
C
T
A
C
T
G
A
G
T
G
C
C
G
C
T
GT
A
AGTTA GATCTTTCTG
3250 |
var(3235):[G:0.24]
E W D N T T T E C R 77
TATCTTTGCC CATATTGATA TCCTGTTTTA CTCCTTCACA TCCTACTTCC
3300
TATAGGCTGT GGTAAAACTT TATAAGAAAA CAAAAATTCT CAATTTCTAG
3350
GAGACCTCTT TTAAAGCACT CCAGTGGAGG AGCTTCTCTT GG
A
A
G
C
T
C
T
A
3400 |
NOT SCANNED
T
G
A
T
C
A
G
A
T
C
T
T
G
A
T
C
A
G
T
A
T
T
A
A
T
T
C
A
G
T
T
G
A
A
T
T
A
A
C
A
G
A
A
T
C
A
A
T
T
C
3450
C
C
T
C
T
A
T
G
G
G
A
A
A
G
A
A
A
T
A
A
T
T
T
C
T
T
C
C
A
G
A
T
A
T
T
A
G
A
A
C
T
A
A
T
T
T
T
T
T
T
3500
T
T
G
C
T
A
T
A
A
T
T
T
G
T
T
T
A
A
C
C
T
T
A
T
A
T
T
G
C
T
T
T
A
A
A
A
A
T
G
T
T
T
A
T
G
T
T
A
T
G
3550
G
A
A
A
A
T
T
T
A
A
A
A
T
G
T
A
T
A
C
A
A
A
C
G
A
C
A
G
A
A
G
A
G
T
C
A
A
A
T
T
C
A
C
T
C
A
T
A
T
A
3600
G
A
C
T
C
A
T
C
A
C
A
T
A
A
TTTCAT CAATTATCCA CACATGATAA TCTTGTTTCA
3650
TGTATATCCT CTTTATTATT TTGAAG
T
A
A
G
T
G
C
A
T
T
G
T
A
T
C
A
T
T
T
T
A
T
T
T
3700 |
REPEAT
C
A
C
C
T
A
T
C
A
T
A
T
A
A
C
T
T
T
T
G
A
A
C
T
G
G
G
A
A
T
A
G
T
T
T
G
T
A
T
T
C
T
C
A
G
T
T
T
A
C
3750
C
A
A
T
G
T
G
A
T
A
A
T
T
G
A
G
A
T
C
C
A
G
C
T
G
A
C
T
T
G
C
T
C
A
A
G
G
T
C
A
C
A
A
A
A
C
T
C
A
T
3800 |
REPEAT
T
T
C
T
G
G
T
A
T
C
C
T
C
T
G
T
G
G
A
G
A
T
G
G
G
G
A
A
T
A
A
T
T
A
A
T
C
C
A
T
A
T
C
C
T
ATTTA
3850
TTACTATTAT TTTTTAAAGA ATAGTTGCAT TAGTTCTCTT GTATACCTAG
3900
AGTAGAGCAC ACCGATATTA TTATCCTTCA TTCATATAAC CAAACTCATA
3950
TATCCCTGTG CATTCTCTCC TGTTTTTTTC CATGCCATGG GAAAAAGCAC
4000
AACAAAATAA AAAATGCTAA GTAAGTGTAT ATTTGGCTGG TTGAAAGGGA
4050
AGGAAATACT TGC
T
TCAAAC ATAGTCTCAC TATTTTGAGC CATGCTTAAT
4100 |
var(4064):[C:0.06]
ATAACAGTAC AATAAACATA CGATTGGTAA CTTTCAGTTA C
G
TGATTAAT
4150 |
var(4142):[A:0.01]
TACTTTCAGT TGCCAATTCA TGTTGTTCTT GTGCATGACA AAGCTCTTTT
4200
GGGCTGTACT TAGGTCAATC TCCTCTTTTT TTCATTCTGC ATTGATATGG
4250
TAGTACCATG TACTTCACTC AATTAAAAAT GTGCAGTATT AACTCTAATT
4300
TGCTGTTTTC TCACTGAAGA CTGAGGAGGT CTGGCCTTTG CTGTGTTGGG
4350
CTTCAGCTTT GCCCTTTCAG CTTATTGCTT ATTTTCTTCT TCAG
T
G
G
G
C
C
4400 | Exon 3
L G 79
A
C
T
G
T
C
C
T
G
A
T
C
C
T
G
T
G
C
T
G
G
T
G
A
A
T
G
G
A
G
A
G
T
T
C
A
G
T
T
C
T
T
C
A
G
G
G
C
C
T
4450
H C P D P V L V N G E F S S S G P 96
G
T
G
A
A
T
G
T
A
A
G
T
G
A
C
A
A
A
A
T
C
A
C
G
T
T
T
A
T
G
T
G
C
A
A
T
G
A
C
C
A
C
T
A
C
A
T
C
C
T
4500 |
var(4466):[C:0.01]
V N V S D K I T F M C N D H Y I L 113
C
A
A
G
G
G
C
A
G
C
A
A
T
C
G
G
A
G
C
C
A
G
T
G
T
C
T
A
G
A
G
G
A
C
C
A
C
A
C
C
T
G
G
G
C
A
C
C
T
C
4550
K G S N R S Q C L E D H T W A P 129
C
C
T
T
T
C
C
C
A
T
C
T
G
C
A
A
A
A
G
T
A
GTAAGTACA AGAGAAACCA TCAAGGATCC
4600
P F P I C K S 136
CCAAAATAC
T
GATTAGTAGT CTAAACTTAG ACATTTGCCA CATCCCTGGG
4650 |
var(4610):[C:0.02]
ATGCTTTTCT CTTTTTTTGT ATCAGAGACA GGCTTAAGAT CTAGCAGACA
4700
GCCA
T
GAAAC AAGTGGAGCT CACAGAACCA AATCTCACCT CAAGAGAATA
4750 |
var(4705):[A:0.01]
CATTCCATTG CAATGAACAG CATCCAAAGC ACACATTTTT CCTTCTCAGA
4800
TAGGGGTCCT G
T
CCTACTAG GTGTAATGTA GGGTA
G
TTTG GAGCATCGAC
4850 |
var(4812):[C:0.01]
|
var(4836):[A:0.02]
TATTTTATTT CTTAATTTCA AGACAGTGAC TTTGTTTGAA AAGTAAACAC
4900
AAAACGGGAA AAAGATCATA ACTCATCTAT TGCAAAATTA TCTACAAGAG
4950
GC
T
AAAGACC CTCTTTCTAT CACTACAATT CATATCTCTC AGAGTTAGTA
5000 |
var(4953):[C:0.02]
AATTGGGTGT GTTTATTTCA TGACTTTTTC TTATGTTTAT ACAGACATTT
5050
AAAACAAACA CACACAAATA AAATATTTAA ATTAAATAAG CATTAAATGC
5100
CATTTTGTGT GTATGTATAT ATATAAATAT ACCTATA
G
AA AAGGGACTTG
5150 |
var(5138):[A:0.01]
C
T
A
T
A
C
A
T
A
T
T
T
T
T
A
A
A
T
T
G
C
T
T
T
T
T
T
T
C
A
T
G
T
A
A
C
T
A
T
A
T
A
C
A
T
G
G
C
C
A
5200 |
REPEAT
C
T
T
T
C
C
T
A
C
A
C
C
A
G
T
C
C
A
T
G
T
A
G
C
T
C
T
A
T
T
G
C
C
C
G
C
T
A
T
T
T
A
A
T
A
A
C
T
G
C
5250
A
T
A
T
G
T
G
T
A
T
G
T
C
A
T
A
A
T
T
T
A
T
T
A
T
A
T
G
G
C
T
C
C
C
A
T
A
T
T
A
T
T
T
T
A
A
T
A
T
T
5300
T
T
T
T
A
T
A
T
T
T
G
G
A
A
C
A
A
T
G
C
T
G
A
A
A
T
G
A
A
T
A
T
T
T
T
A
T
A
C
A
C
A
C
A
C
A
T
A
T
T
5350
C
T
T
A
T
G
T
C
T
A
C
G
T
T
G
T
T
A
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
5400 |
REPEAT
T
G
G
A
G
T
C
T
T
A
C
T
C
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
C
A
G
T
G
G
T
G
T
G
A
T
C
T
C
5450 |
var(5436):[:0.96]
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
T
G
C
C
C
A
G
G
T
T
C
T
A
G
C
G
A
T
T
C
T
G
C
T
G
C
C
T
C
A
G
5500 |
var(5491):[C:0.08]
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
T
T
A
C
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
5550
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
C
T
T
G
G
C
C
A
G
A
C
T
G
G
T
C
T
T
5600
G
A
A
C
T
C
C
T
G
A
T
C
T
C
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
T
A
A
A
G
T
G
C
T
G
G
G
A
5650
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
A
G
G
C
T
A
C
T
A
C
A
T
T
G
C
T
A
T
T
T
C
T
A
T
A
G
G
5700 |
REPEAT
A
T
A
G
A
T
T
C
C
T
A
A
A
A
T
G
A
T
T
G
C
T
G
G
A
T
C
A
C
A
G
G
A
T
G
C
T
A
T
T
A
T
T
T
G
C
A
G
A
A
5750 |
NOT SCANNED
T
A
T
A
C
T
T
C
A
A
A
T
A
T
C
C
A
A
G
A
A
A
G
T
C
T
A
C
T
A
A
A
A
T
A
T
T
T
A
A
T
A
T
A
T
A
C
T
T
G
5800
G
A
C
A
C
A
A
A
A
T
A
A
A
T
A
T
T
G
A
A
A
A
A
A
A
T
C
A
A
T
G
T
T
T
T
C
A
T
T
T
T
C
T
A
T
T
A
A
T
A
5850
A
T
T
G
T
T
A
G
T
T
G
A
A
T
T
T
G
A
A
A
T
G
T
A
A
A
A
A
T
A
A
T
T
C
G
A
T
T
C
A
C
A
A
G
A
T
C
T
A
T
5900
A
T
G
A
A
A
A
T
T
T
A
C
T
G
A
A
A
G
A
T
A
T
A
A
A
A
T
A
A
G
A
C
T
T
G
A
A
T
G
A
A
A
G
A
A
A
A
G
A
C
5950
A
T
G
C
A
T
G
A
TC CTGGATGGGC AGACTTACTA TTACAGTGCA ATGCCTCCCA
6000
GGATTTTAAA TTCAAAAATA TGAAAAAAAC ATTAATTAAA GAATCTCATC
6050
CAGTAGGATA CACATCTAAC ATTGTAAATA TTTTTGGGAA AATGATGAAT
6100
GATGTATACA TTTGACTGGA TCAAAG
G
G
AA AGGAATACTT GCCGTATTAG
6150 |
var(6127):[T:0.20]
|
var(6128):[T:0.20]
ATAGTAAAAA ATACTACAAA GTTACTATGA GCACAATATG GCAAACTGTA
6200
GGTACTACAA ATTATATATC ATTAAAATAG CAAAGTATAG GTACATATAA
6250
GTAGAACAGA TTAAGTCA
G
G
A
G
G
A
A
A
A
G
T
C
T
A
T
T
C
A
A
T
A
G
T
G
A
T
G
G
A
A
T
A
6300 |
REPEAT
A
T
T
A
T
C
T
A
T
T
T
G
G
A
A
G
A
A
G
A
C
A
A
A
G
T
T
A
G
G
G
C
T
C
T
A
G
C
T
C
A
C
A
C
C
A
T
A
T
T
6350 |
var(6346):[G:0.01]
C
A
T
A
A
T
A
C
A
T
T
C
C
A
A
A
T
G
G
A
T
T
T
T
A
A
A
T
A
T
A
T
A
A
C
T
A
T
A
G
A
A
A
G
C
A
A
A
A
T
6400
T
A
T
T
A
A
A
T
C
A
T
T
A
A
A
A
G
A
A
A
A
C
A
T
G
A
G
A
T
A
A
T
A
T
A
T
T
T
A
T
T
A
C
A
T
T
G
G
G
A
6450 |
NOT SCANNED
T
G
G
G
G
A
A
A
G
C
C
T
T
C
C
T
A
A
G
C
A
G
T
T
T
C
A
T
A
A
A
A
C
T
C
A
G
G
A
A
G
T
C
A
T
A
A
A
G
G
6500
A
A
G
A
A
A
A
T
G
G
G
C
A
G
A
T
T
T
A
A
T
T
A
A
A
T
T
T
T
T
A
A
A
A
G
A
A
A
A
A
C
T
T
C
T
A
C
A
T
A
6550
C
T
A
A
A
A
G
A
C
A
T
C
A
T
A
T
T
G
A
A
T
A
A
A
G
T
A
T
T
T
G
C
A
A
C
A
T
A
T
T
T
G
A
T
G
G
T
T
A
A
6600
A
G
A
G
T
T
A
A
T
G
T
T
T
T
T
A
A
T
A
A
A
C
A
A
A
G
A
T
C
C
C
C
T
A
G
A
G
A
T
C
A
G
T
A
A
G
G
A
A
A
6650
A
A
A
A
C
A
A
C
C
C
A
A
T
A
G
A
A
A
A
T
A
A
G
C
A
G
T
T
G
G
G
T
A
A
G
G
A
C
A
G
G
C
A
A
T
T
C
C
A
A
6700
A
A
T
A
A
T
G
G
C
C
C
T
A
A
A
C
A
G
C
A
C
T
T
C
T
A
T
C
T
C
C
T
G
A
T
T
A
T
A
T
G
A
A
A
G
G
A
T
A
T
6750
T
G
A
A
C
A
T
T
A
C
A
A
A
T
G
A
T
T
A
T
A
G
A
A
C
T
G
G
A
A
A
T
T
A
A
A
A
T
T
A
G
A
T
A
T
A
C
A
T
C
6800
T
T
T
T
A
C
T
G
A
T
C
A
G
A
T
T
A
G
C
A
A
A
A
A
A
T
G
A
A
A
A
G
A
T
G
G
A
T
T
T
A
A
T
T
T
A
A
T
A
C
6850
T
A
T
T
C
A
T
G
A
C
C
T
G
A
G
G
A
A
A
T
A
G
C
C
A
T
T
T
A
C
G
T
C
A
G
T
G
A
G
A
G
T
G
T
A
A
A
G
T
G
6900 |
var(6880):[T:0.22]
C
T
A
T
C
A
C
T
A
T
T
T
G
G
A
T
G
T
A
T
T
T
T
G
G
C
A
G
T
A
G
C
T
A
C
T
A
A
A
A
T
A
A
T
A
A
A
A
G
C
6950 |
REPEAT
C
A
G
G
C
G
T
G
G
C
A
G
T
G
C
A
T
A
C
C
T
G
C
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
A
G
C
T
A
A
G
G
C
7000
A
G
G
A
G
G
A
T
A
G
C
T
T
G
A
G
T
C
C
A
G
A
A
A
T
T
T
G
A
G
G
C
C
A
G
C
C
T
A
G
A
C
A
A
C
A
C
A
G
T
7050
G
A
G
G
C
C
T
G
T
C
T
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
TGAA AAAGAAATAA TAAAGACAGG
7100
CAGTTTAAGA GCACAAACTA TATATGCTCT TACATGAGGG AATTTGGGGT
7150
TATTTAAAAC TTGCATACAT ACTATTATAT ATACAGTTAA ATTACATGCA
7200
TATAATAGCA TTTTATGTCA TTAGCTTGAC ACAAGTTTAA AGTATTTCCT
7250
TATTTCTTCC AAACATTTTC TGGTTTACTC TCTTTTAATT CAGTAGTTTC
7300
TATCCTAGCT CTTAACCACA GGATCCCTGT CTTTTTATGT CACTTCATTA
7350
TCTAAATCTA GGATGAGCTC CCTAGGTTTC TGAATAAACC AGATTCTTTC
7400
TGTTTATTCT GTTTACCACA TCATCTCCTT CCGTTCAAAA TTGTACTCAT
7450
AAAAGTTACC AGAACTCTGG TGGACTGGAA
T
CCCCCAAAC AACTCCTGG
A
7500 |
var(7481):[G:0.01]
|
var(7500):[C:0.23]
AATTCTTCTT GCTTTCCTCT ATTCAGCCTT TGAGCTCAGT CTCTGAGCTT
7550
TAAAAAATTA CAGTGTATTA ACTGCATAAG TAATATTAAT ACACCTTTGT
7600
TGTAGAAAAA TATAGAAAAT AAAAGACGAA ACCAATTACA TACAAGCCAT
7650
CTAAGGATAA GGGCATTAAG TATTTTGGCA TATAACTTTC CATACTTTTT
7700
TCCTGTGCTT ATGTATGTGT AACCATGATT TACAAAAATA ATATTATACA
7750
TGCTCTTTCA TCATCTGCTG TT
T
T
T
A
C
T
C
A
A
C
C
A
T
T
T
G
T
T
T
A
G
A
A
G
A
T
T
T
7800 |
NOT SCANNED
T
T
A
T
G
T
T
T
C
A
G
T
A
A
A
T
A
T
A
C
A
C
C
C
A
C
A
T
A
A
T
C
A
T
T
G
T
T
A
G
C
C
A
C
T
A
T
T
T
T
7850
T
G
A
T
C
G
A
C
A
T
G
T
T
T
A
G
T
G
T
C
C
T
G
T
G
G
T
C
T
C
A
G
A
G
C
T
G
A
C
T
G
G
G
A
C
C
T
T
A
G
7900 |
REPEAT
A
G
A
T
G
A
T
A
T
T
A
T
T
T
A
A
C
C
T
G
C
T
T
A
T
C
T
G
A
T
A
A
T
A
T
T
A
G
G
A
A
G
G
A
A
G
C
C
A
A
7950
G
A
G
G
A
G
C
A
A
A
A
T
G
G
C
T
T
T
A
G
T
G
C
T
A
C
A
T
A
G
C
T
A
G
T
G
G
A
A
G
A
G
C
C
A
G
T
A
T
C
8000
A
A
G
A
C
T
C
A
C
A
A
C
T
C
C
T
A
A
C
A
C
G
T
C
A
T
C
C
T
G
C
T
T
T
C
T
T
T
C
C
A
C
A
G
T
T
C
C
A
C
8050
A
G
A
C
T
C
G
T
C
C
T
C
T
T
C
C
C
T
T
C
C
A
G
C
C
A
T
G
T
T
C
T
C
C
C
C
T
A
T
T
T
C
T
T
T
T
T
C
T
T
8100 |
REPEAT
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
T
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
G
A
A
T
8150
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
G
T
T
C
T
C
A
T
G
C
C
T
8200
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
G
C
A
C
C
C
A
C
G
C
T
G
G
G
C
T
A
A
T
8250
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
T
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
8300
T
C
A
A
A
T
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
C
C
T
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
8350
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
T
G
C
T
C
C
C
AC CTTCTCCCCT TTTTCTGATA
8400
CTCTCTT
T
G
A
T
A
T
A
G
T
T
T
G
G
A
T
G
T
G
T
G
T
T
C
C
T
G
C
T
C
A
A
A
T
C
T
C
A
T
A
T
T
G
A
8450 |
REPEAT
|
var(8428):[C:0.05]
|
var(8433):[A:0.03]
A
T
T
G
T
A
A
T
C
T
C
C
A
G
T
G
T
T
G
G
A
G
G
T
G
G
T
G
C
T
T
G
G
T
G
G
G
A
G
G
T
G
A
C
T
G
G
A
T
C
8500
A
T
G
C
G
G
G
T
G
G
A
T
T
T
C
T
C
A
T
G
A
A
T
G
G
T
C
T
A
G
C
A
C
C
A
T
C
T
C
C
C
T
A
G
G
T
A
C
T
G
8550
T
C
C
T
C
A
T
G
A
C
A
G
C
G
A
G
T
G
A
G
T
T
C
T
C
A
T
G
A
G
A
T
C
T
G
G
T
T
G
T
T
T
A
A
A
A
G
T
G
T
8600
G
T
A
A
C
G
C
C
T
C
C
T
C
C
C
T
C
T
C
T
C
T
C
G
T
T
C
C
T
G
C
A
C
C
T
G
T
T
A
T
G
T
G
A
G
A
T
G
C
C
8650 |
var(8622):[:0.84]
T
C
C
C
T
C
C
C
C
C
T
T
T
G
C
C
T
T
C
T
G
C
C
A
T
G
A
T
T
G
T
A
A
G
T
T
T
T
C
C
G
A
G
G
C
C
T
C
C
C
8700
C
A
G
A
A
G
C
C
G
A
G
C
A
G
A
T
G
C
C
A
G
C
A
C
C
A
T
G
T
T
T
C
C
T
G
T
A
C
A
G
C
C
T
G
C
A
G
A
A
C
8750
T
G
T
G
A
G
C
C
A
A
T
T
A
A
A
C
C
T
C
T
T
T
T
C
T
T
T
A
T
A
A
A
T
T
A
C
C
C
A
G
T
C
T
C
A
G
G
T
A
T
8800
T
T
C
T
G
T
A
T
C
A
C
A
A
T
G
T
G
A
G
A
T
G
G
A
C
T
A
A
T
A
C
A
CTCATGTT TCACAACTCT
8850
TATCCACAG
G
GGATGTCAGC TTCCACTTGA GCTCACACGC TTCATCTCCT
8900 |
var(8860):[A:0.03]
CTCTCAGGGA GTTATTTCTT CAGCCTTCAC CTATGGCCCA ATTTTTCTTT
8950
TCTTGTACAT TAACAATTAG CTTCTCTACA ACTTAAAATT TCTTTCCTTG
9000
AGCTCCTGCT GTCAGATAAT ACTCCCAAAT CCCTACTAAC TCAGAAGATG
9050
GGCTGGGGGA AAGC
T
CTTTC CCATGGACAA ATATGATTTA GAAGAGAAGG
9100 |
var(9065):[C:0.01]
AAATGAATGA AGAACAGGTT TCCAGATCCC GCAGGTGTTG CTGTGAGGAT
9150
GTCAGGTGCT GGCGCAGGTG TTGCTCTGAG GCTGTCAG
G
T GCTGGCATAA
9200 |
var(9189):[A:0.06]
ACAGCTGCAA TTAGGGGTGC TGTTCATTGA GC
G
TG
C
CTGG CCCTCATAAC
9250 |
var(9233):[A:0.01]
|
var(9236):[T:0.05]
TATGACTTCT ATACT
C
GT
T
T CTCTCAG
G
G
G
A
C
T
G
T
G
A
C
C
C
T
C
C
T
G
G
G
A
A
T
9300 |
var(9266):[T:0.03]
|
var(9269):[C:0.15]
| Exon 4
R D C D P P G N 144
C
C
A
G
T
T
C
A
T
G
G
C
T
A
T
T
T
T
G
A
A
G
G
A
A
A
T
A
A
T
T
T
C
A
C
C
T
T
A
G
G
A
T
C
C
A
C
C
A
T
9350 |
var(9330):[C:0.46]
P V H G Y F E G N N F T L G S T I 161
T
A
G
T
T
A
T
T
A
C
T
G
T
G
A
A
G
A
C
A
G
GTAAGTGAA CACAGCCTGT CAAATGCCAG
9400
S Y Y C E D R 168
ATCTTGCCCC TTGGCAGCAT TGTTTTGGGG AATAACCCAG TCTGTGTCCA
9450
CCTGGTCATC TGATTTCCTA CTGCTGCAGG ATTCTAAGCT CATTCTGATT
9500
TTGAGAGCTG CTTTGGCCCT CTGCTAGCTC TCCTCAATCC CTAGAAGACA
9550
GACTGATCCT ACTAAAGTAT CCTAC
T
T
A
C
C
C
C
A
A
T
G
C
A
A
G
T
A
T
C
T
C
T
T
T
T
9600 |
NOT SCANNED
T
C
C
T
C
T
C
C
G
C
C
A
A
G
A
C
A
A
G
A
T
A
A
A
T
T
A
T
T
T
A
A
A
A
T
G
A
A
T
G
G
A
T
T
T
G
G
C
T
G
9650 |
REPEAT
G
G
C
G
T
G
A
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
T
G
C
T
A
A
G
G
C
A
G
9700
G
C
G
G
T
T
T
G
C
T
T
G
A
G
G
C
C
A
G
G
A
G
A
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
A
A
9750
A
A
C
C
C
T
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
A
C
A
9800
C
T
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
T
G
A
G
A
A
T
C
G
C
T
T
G
A
A
9850
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
T
A
G
A
T
G
G
C
A
C
C
A
C
T
G
C
A
C
T
T
T
A
A
9900
C
C
C
A
G
G
T
G
G
A
A
A
A
G
T
G
A
T
A
C
T
C
T
G
T
T
T
T
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
A
T
9950
G
T
A
T
G
G
G
T
T
T
T
T
T
G
T
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
A
T
T
T
T
T
G
A
G
A
C
A
G
T
G
T
C
T
C
C
10000 |
REPEAT
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
T
G
G
T
G
T
A
C
T
C
A
T
A
G
C
T
C
A
C
T
G
C
A
A
C
10050
C
T
C
T
G
C
C
T
C
C
T
A
G
G
C
T
C
A
C
G
A
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
T
C
T
A
A
T
A
G
C
10100
T
G
G
G
A
C
T
A
C
A
G
G
C
A
T
G
G
G
T
C
A
C
C
A
C
G
C
T
T
G
G
C
T
A
A
T
T
T
T
T
T
A
A
G
G
T
T
T
T
G
10150
T
A
G
A
G
A
C
A
G
G
G
T
C
T
C
C
C
T
A
T
G
T
T
G
C
T
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
G
C
10200
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
T
G
G
T
T
T
C
C
C
A
A
A
G
T
C
C
T
G
G
A
A
A
G
T
G
C
T
G
G
A
A
10250
T
T
A
C
A
A
A
C
A
T
G
A
A
T
C
A
C
T
G
T
G
C
C
T
G
G
C
C
T
A AAATGTATGT TTTTCTAAAA
10300
AAAAAAAAAA AAAAAAATCA GAGAATATAA ATACTAAAAA ACAAACATAG
10350
AAGTGCAGAA ATATAAAGAC TTAGTGTATA GACCCTTAAA GCCCCCTAAT
10400
TAACTCAGAG TCATGTGGCC TCACTGGCAT TTCGATCTCG TTATATACCT
10450
TCAATGCACT TTGCAGGCAA CTCTCATATT TTTCTGATGA AAAGCAATTG
10500
CTCCTTTTTA GCCCCTTCGC TAAGATTTAT TTGCAGGTGT CTCTCATTTT
10550
CTACTCCTTT TTAGAGCTTA GATGCCAGAT GCCTTTTTAG GTTATTGAAT
10600
GATAAAGTGC TTCTATCACT CTCCCCACCC AAAACCTGGG TGTGTAAACA
10650
CCTGATTCAG AATTTCTCAC TTCTCTATGT TTTATGGGTT GACTCATCAC
10700
TTGGGTCCTC TCCTACCTCC AGGAAAATGG TTTTACTTTG AACTGCTTTG
10750
TAATACCGAG ATAACTTAAG CATGCATTGA GGCTCAAGGG CAGGGAG
G
TG
10800 |
var(10798):[T:0.01]
GATTCCATCA CAGCATGAAA TACTGAAATA CAACTACACA AAACCAGTCT
10850
CCATTACCCA ATTCAGAAAG TGGAAAAGCT AAGCCTTGTT CTAATTTCTG
10900
TTCAG
G
T
A
C
T
A
C
T
T
A
G
T
G
G
G
C
G
T
G
C
A
G
G
A
G
C
A
G
C
A
A
T
G
C
G
T
T
G
A
T
G
G
G
G
A
10950 | Exon 5
Y Y L V G V Q E Q Q C V D G E 183
G
T
G
G
A
G
C
A
G
T
G
C
A
C
T
T
C
C
A
G
T
C
T
G
C
A
A
G
T
T
G
A
T
C
C
A
G
G
A
A
G
C
T
C
C
C
A
A
A
C
11000 |
REPEAT
W S S A L P V C K L I Q E A P K 199
C
A
G
A
G
T
G
T
G
A
G
A
A
G
G
C
A
C
T
T
G
T
A
A
G
T
A
G
G
A
G
G
C
T
C
A
T
A
T
C
T
G
T
C
T
T
G
T
T
C
11050
P E C E K A L 206
A
C
A
G
C
T
G
G
A
T
C
T
C
C
A
G
G
G
C
C
T
G
G
C
A
T
C
A
C
T
C
C
T
G
G
C
A
T
A
T
G
C
T
C
A
G
T
A
T
A
11100
T
A
T
C
T
G
T
T
T
A
A
T
G
TGGGACA TTTTGCTTTT GAATGGGTTG GCCTTGGCCT
11150
GGCTGTAGAA GGGACTCATA AACTATTAAC TCACATTTTT ATAAATGGAA
11200
GTTGGAAGTT CCCATTC
A
CT ACCATCATCA CAAATACCTC ATGAGACCCT
11250 |
var(11218):[G:0.01]
GTTGGTAGAA GTTGTTGTC
T
C
A
T
G
T
G
C
C
T
T
A
T
A
G
A
G
C
A
G
T
G
G
T
T
C
C
C
A
A
C
11300 |
NOT SCANNED
|
REPEAT
C
T
T
T
T
T
G
G
C
A
C
C
A
G
G
G
A
T
G
G
G
T
A
T
C
A
T
G
G
A
A
G
A
T
G
A
C
T
T
T
T
C
C
A
C
G
G
A
T
G
11350
G
G
G
G
T
G
G
G
G
A
G
A
G
T
G
G
G
G
A
T
G
G
T
T
T
G
G
G
G
A
T
G
A
T
T
C
A
G
A
T
G
C
A
T
T
A
C
A
T
T
11400
T
A
T
T
G
T
G
T
A
C
T
T
T
A
T
T
T
C
T
A
T
T
A
T
T
A
T
T
A
C
A
T
T
G
T
A
A
T
A
T
A
T
A
A
T
A
A
A
A
T
11450
G
A
T
T
A
T
A
T
A
A
C
T
C
A
C
C
A
T
A
A
T
G
T
A
G
A
A
T
C
A
G
T
G
G
G
A
G
C
C
C
T
G
A
G
C
T
T
G
T
T
11500
T
T
C
C
T
G
C
A
A
C
T
A
G
A
G
G
G
T
C
C
C
A
T
C
T
A
G
T
T
A
G
G
A
G
T
G
A
T
G
G
G
A
A
A
C
T
G
A
C
A
11550
G
A
T
T
A
T
C
A
G
G
C
A
T
T
A
G
A
T
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
T
T
G
G
G
A
A
A
C
A
G
T
G
A
C
A
G
11600 |
REPEAT
A
T
C
A
T
C
A
G
G
C
A
T
T
A
G
A
T
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
A
T
G
A
G
A
G
A
C
A
G
T
G
A
C
A
G
A
11650 |
REPEAT
T
C
A
T
C
A
C
A
C
A
T
T
A
G
A
A
T
C
T
C
A
T
C
T
G
G
G
A
A
T
G
A
T
G
A
G
A
G
A
C
A
G
T
G
A
C
A
G
A
T
11700 |
REPEAT
C
A
T
C
A
G
G
C
A
T
T
A
G
A
A
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
A
T
G
G
G
A
G
A
C
A
G
T
G
A
C
A
G
A
T
C
11750 |
REPEAT
A
T
C
A
G
G
C
A
T
T
A
G
A
T
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
A
T
G
G
G
A
G
A
C
A
G
T
G
A
C
A
G
A
T
C
A
11800 |
REPEAT
T
C
A
G
G
C
A
T
T
A
G
A
T
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
A
T
G
G
G
A
G
A
C
A
G
T
G
A
C
A
G
A
T
C
A
T
11850 |
REPEAT
C
A
G
G
C
A
T
T
A
G
A
T
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
A
T
G
G
G
A
G
A
C
A
G
T
G
A
C
A
G
A
T
C
A
T
C
11900 |
REPEAT
A
G
G
C
A
C
T
A
G
A
T
T
C
T
C
A
T
C
T
G
G
G
A
G
T
G
A
T
G
G
G
A
G
A
C
A
G
T
G
A
C
A
G
G
T
T
A
C
C
A
11950 |
REPEAT
G
G
C
A
T
T
A
G
A
C
T
C
T
C
A
T
A
A
A
G
A
G
G
G
G
T
C
A
A
C
C
T
A
G
A
T
C
C
C
T
C
G
C
A
T
G
A
G
C
A
12000
G
T
T
C
A
C
A
A
T
A
G
G
T
T
T
C
A
C
G
C
T
C
T
T
A
T
G
A
G
A
A
T
C
T
A
A
T
G
C
C
A
C
C
T
C
T
G
A
C
C
12050
T
G
A
C
A
G
G
A
G
G
T
G
G
A
G
C
T
C
A
G
G
C
A
G
C
A
A
T
G
T
G
A
G
C
A
A
A
G
C
A
G
A
G
T
G
G
C
T
A
T
12100
A
A
A
T
A
C
A
G
C
T
G
A
A
G
C
T
T
T
G
C
T
T
G
C
C
T
G
C
C
C
G
C
T
G
C
T
C
A
C
T
T
T
C
T
G
C
T
G
T
G
12150
T
G
G
C
C
C
A
G
T
T
C
C
T
A
A
T
A
G
T
C
C
G
T
G
G
A
C
C
G
G
T
A
C
C
G
G
T
C
T
G
T
G
G
C
C
C
T
G
G
G
12200
G
T
T
G
G
G
G
A
T
C
C
C
T
G
T
T
A
T
A
G
A
G
C
A
A
A
G
C
A
C
A
T
A
A
G
C
A
C
A
A
T
G
C
G
T
G
A
G
A
A
12250
T
T
G
G
A
A
A
A
G
T
C
T
C
T
A
A
A
A
T
T
C
T
T
C
T
A
G
G
C
T
C
C
A
A
A
A
C
T
A
A
A
C
A
A
A
C
A
A
C
A
12300
C
T
G
A
A
C
A
G
A
T
C
C
A
T
T
T
T
C
A
T
T
G
A
G
A
T
T
C
T
T
C
T
T
T
T
A
G
T
T
C
A
T
A
T
T
T
A
T
T
A
12350
C
T
G
G
G
A
T
A
A
T
A
T
T
A
A
T
A
A
G
T
A
T
A
T
T
T
A
A
G
C
C
A
G
A
A
A
A
T
A
T
A
A
A
T
G
A
T
T
T
G
12400
C
C
A
T
G
T
T
G
A
A
A
A
C
C
C
A
A
A
T
C
T
T
T
A
C
T
T
A
A
G
C
T
A
G
C
C
T
G
G
T
T
C
T
G
A
G
C
C
C
C
12450
C
A
T
TCAGAGA GCTAACTGCT GCTCACTGGC TTCAGAGTAT ATAGCTGGGT
12500
CTCAGTCCTT ATGTTGTAAC TTGTGAAAAA TTTTCTTTCT TCAG
C
T
T
G
C
C
12550 | Exon 6
L A 208
T
T
T
C
A
G
G
A
G
A
G
T
A
A
G
A
A
C
C
T
C
T
G
C
G
A
A
G
C
C
A
T
G
G
A
G
A
A
C
T
T
T
A
T
G
C
A
A
C
A
12600
F Q E S K N L C E A M E N F M Q Q 225
A
T
T
A
A
A
G
G
A
A
A
G
T
G
G
C
A
T
G
A
C
A
A
T
G
G
A
G
G
A
G
C
T
A
A
A
A
T
A
T
T
C
T
C
T
G
G
A
G
C
12650
L K E S G M T M E E L K Y S L E 241
T
G
A
A
G
A
A
A
G
C
T
G
A
G
T
T
G
A
A
G
G
C
A
A
A
A
T
T
G
T
T
G
T
A
A
C
A
C
T
A
C
A
G
C
T
G
A
G
C
A
12700 |
UTR
L K K A E L K A K L L 252
G
A
T
G
T
A
A
T
A
G
A
A
A
T
A
A
A
C
C
T
A
T
G
A
A
T
A
A
A
T
T
T
T
C
T
T
C
T
T
G
G
T
T
C
T
G
A
A
A
T
12750
TGGTTTCAGA TTTACCTCTT ATTGGGCTGA AATTGCCAAC AGCAGTTGTA
12800
TAATGCACCA TGTGTGTGTG TGTGTGTGTG TGTGTGTGTG TGTGTGTGTA
12850
TGTGTGTGTG TGTGTGTGTG TGTGTTGTTC TCAGAATGTG AAAAGGCCAA
12900
AT
G
TAGTGGT TGTCTAAGGC CAGAATTAGC AACATATTAT TGGAGAATAG
12950 |
var(12903):[A:0.14]
AGGGCTTAAT TTCCAGTCTG TAAGGAGAAT GGAAAACTCT GATCTCAGCC
13000
G
AGAGAGTAA CTCGTATTTT AACATGAGAC CATGAATTAT GAAACCAAAA
13050 |
var(13001):[A:0.05]
CTAACCGCAA CTTATGAGGC AAAAATTAAC CTTCCATTTT GGAAAAGATG
13100
CTTAGAATAG TTACATCCTT AAAAATGACC CACTGGGACA GAAGGAGAGC
13150
TAGGACCCAA A
T
TCTCCTCC CAGTCTTGCC CACATCTGGC TTACGGAAAC
13200 |
var(13162):[C:0.37]
AGGTTTCCAA A
T
CTGCAGGA AAATTGCTTA CTGCCTCTTG AATGAAACCT
13250 |
var(13212):[G:0.48]
GGTCCTGCAT GAT
A
AATTAG AGATGGTGCA ACACAAGTGA ATATATTTCT
13300 |
var(13264):[C:0.01]
TCTCTTTTTT AGAAACAAAA ATTTTATATT
A
TTT
T
TTACT TACAATTCTC
13350 |
var(13331):[:0.15]
|
var(13335):[C:0.15]
CTTTTTTAGA GGGTAGA
A
GA AATAAGAATC CTAAGGCTTT CAATCAAAAT
13400 |
var(13368):[G:0.11]
GTCATACTGA GCTGGCATGA CAAGCTTCTC CCACCTCTCG TCCTGACTGC
13450
TACCTGAAAC A
C
GTAGGATA TCTAGATAAA GTGCAACCAA AATATATAAG
13500 |
var(13462):[T:0.01]
CCAGCTTGAA ATAATGGAAA ATCGCTAGGT AAAGTTATGA AGGGGAATAA
13550
GAGATGGACT CTTGAGTACC CCAGAGTCTA CTAATAGGCA CAAGACATGT
13600
ACACACGTAG CATTATTTTA GAGTGGTTAG AATGAACTAA ACATTTTCAG
13650
ACAACAGTGG GCTATGAGAG CTCAGATGAG AGGAGGTTCA CTTCTGTCTG
13700
GGAGGAGGAG GCAGGAATAT TGTCAAGGAA GAAGTCACAG TTATTTGGGC
13750
CTTCAAAAGT AAGTGAGAAT TAGAGACAAA GATTAAAGAG CTCATTCCAG
13800
TTGGAAAGAA TATTTGAGAA ATGGAGTAAG ACAATAATAA GATTTAAAAC
13850
CAA
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
C
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
A
G
A
G
T
13900 |
REPEAT
G
C
A
A
T
G
G
C
G
T
G
A
T
C
T
C
A
G
C
T
C
A
C
C
A
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
13950
G
A
T
T
C
T
C
C
T
G
C
C
T
C
T
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
T
G
C
G
C
C
A
14000 |
var(13973):[A:0.03]
C
C
A
T
G
C
C
C
G
G
C
T
A
A
T
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
C
C
T
A
T
G
T
14050 |
var(14035):[T:0.05]
T
G
G
T
C
A
G
G
C
T
G
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
T
G
C
C
C
G
C
C
T
C
G
G
C
14100
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
C
A
T
G
A
G
C
T
A
C
C
A
C
G
C
C
T
G
G
C
C
AATAA
14150
TAAGATTTTT AACCAAGTAA ATTCATTCCT AGGATTAATC TAACTGGAGG
14200
AAAATGATTT GAAATTGAAG CTACTTCTTA TTTGTACATA TTATCTATCT
14250
AGGAGGATCT TATGAGCATT TGAAATGTCT ACTCTTAGGA AAATTTTGAA
14300
TAAATTATGG TACTTTAAAT GTAATGCAGA CCTATATGGT GATAAATATG
14350
AGGAAGTAGA AAATCTTAAA AAT
A
CAATCT TAAGTAAAAA TAGAATATTT
14400 |
var(14374):[G:0.01]
AATAACAAGG GCTTATGATT GCATTTATGT AAAACCTTTA TTCTTGTGGG
14450
AAAGGATTAG ACAATAATAG GCACAGATAA AAACATTTGT CTTAGAATAT
14500
GAAATTATAA GTGTTTATTC TCTTAAAACT TTTTAATGTT GTAAAATGAA
14550
TTTCTAATAA TAATTTTAGA AGGCATTGCA CAGAGGCAGA AAAAATGGGA
14600
TATGTTTAGG AACTTGCACA TAGCCTGGAC TGGCCTAGAT GAAGCATGGA
14650
AATTGGTGAG AGAGAAGGTG GCTGGAAAGA TAAG