MPG 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
ATAAACCTTC AAGTGGCCAG AAGCGGGGGA TGGCTCTGCT GGGTGCTGGG
50
GCTGCCATGG GCCGTGGGAG CCAGCAGTGT GCCCAGCTCC CTCAGGGCCC
100
GTCCCCTAGG CCCTTCCGTC CACTGGGCCA AGCACCGTCC CTGCCCCTCC
150
CTAGGGGCAT GGATCTGACT TGAGAGGTTG TGAGAGCTTA CAGGCGCTGG
200
GCCGTCGGGG AGGCCTCAGA AGCGTAGGAC GGCT
G
CGCAC TGCCGGGCCG
250 |
var(235):[A:0.01]
TGTTCAGCCC TGGTCTGGC
C
TCGGCCTCTA GAGGAGGCTG CCTGCGCTCC
300 |
var(270):[A:0.01]
AGCAGGCCCA ACCCAGAACG TG
C
GCGAGCT CCCTTCAGCA TCCCTGGGCG
350 |
var(323):[G:0.29]
GAAAGAGGGA TGGGGGCTCT GCTGCAGAGG CAGAATCCGC GCCGCTCCCT
400
CCTTCCTTCC CCCGACCAGC CTGTGACAAC CCCGGCCAGG G
G
CGGGGGCC
450 |
var(442):[A:0.01]
TCCGCACAAG CCTGGCGTCC ACTTCCTGGA TAAGGACTCC C
C
GGCCCACT
500 |
var(492):[T:0.02]
CCGGACCAGG GCTGGGGCGG CCTCCCAGGC GCTCACTCCG CTGGCACCCC
550
ACCGGAAAAC ACGTCTGCG
G
CC
C
GCCCCCT CCCCCAAAGC ACGACCACTC
600 |
var(570):[A:0.21]
|
var(573):[T:0.21]
CGCCCGG
G
CC CCTCGAGGAT CCACTCAGGT TCACGACGGG CCCGTCCTCT
650 |
var(608):[A:0.01]
C
G
GTGGTCTG ACCACCGGCT GGTGGAGTGG GCTCTGGGGC CGCCAGGCGA
700 |
var(651):[T:0.20]
|
var(652):[C:0.08]
CCAGGGCGCA GGCGGGGGCG GACAGCTCAT TGGGAGGGGC GCCGGGGCAC
750
AGTG
C
GGGGC TCGCCCCACC CCCAGGTGCC CCTTCCCCGC TCTCGCCTC
G
800 |
var(755):[T:0.01]
|
var(800):[A:0.06]
CAGGCACCG
C
A
T
C
G
G
G
C
C
C
G
G
G
A
A
T
C
G
G
T
C
C
G
G
A
C
C
T
G
G
C
G
G
T
G
G
G
C
G
C
T
850 |
NOT SCANNED
G
G
G
A
A
G
A
G
G
A
T
C
C
A
C
C
T
C
C
A
C
G
T
G
G
C
C
C
G
C
C
C
C
G
C
C
C
C
G
G
G
G
G
C
G
C
A
G
C
C
900
A
G
T
T
C
C
C
G
G
C
G
C
T
C
A
C
T
G
C
C
C
C
C
C
T
T
C
T
C
C
C
G
G
C
T
T
C
C
G
T
C
C
C
C
T
T
C
T
G
C
950
G
C
A
G
G
C
G
C
C
G
C
T
C
C
G
C
C
C
C
G
G
T
C
C
T
A
G
G
G
G
T
G
C
T
T
C
C
G
T
G
G
T
C
G
G
C
G
G
C
T
1000
G
C
T
G
G
G
C
T
C
C
G
C
G
C
C
G
G
G
G
T
C
C
G
A
G
T
C
C
C
A
C
G
A
A
G
C
C
C
C
G
G
C
C
C
G
A
G
C
C
G
1050
C
C
G
G
A
T
G
C
C
C
G
C
G
C
G
C
A
G
C
G
G
G
G
C
C
C
A
G
G
T
G
A
G
C
G
C
G
C
G
C
C
T
C
G
G
C
C
G
C
C
1100
C
C
G
C
G
G
A
A
C
A
G
A
C
G
C
G
C
C
C
A
C
C
C
C
C
A
G
G
C
G
C
A
G
C
A
G
C
G
A
G
C
G
C
G
G
C
C
G
C
G
1150
G
G
A
G
C
G
G
G
A
G
T
G
C
C
G
G
G
G
A
C
G
G
G
C
G
T
A
G
C
G
C
C
C
A
C
C
G
C
C
C
C
G
A
G
G
G
T
T
C
G
1200
G
G
G
C
A
G
A
G
C
C
A
G
A
G
C
A
T
A
G
G
C
C
A
A
G
G
G
C
C
A
A
G
C
T
C
G
G
G
C
C
G
A
G
A
G
C
A
G
T
G
1250
G
C
C
G
C
A
G
C
G
C
C
C
G
G
G
G
G
C
T
G
A
A
C
C
C
A
C
G
G
C
G
C
G
C
T
G
G
C
A
G
C
G
C
G
G
G
C
C
G
A
1300
G
C
T
G
C
G
G
A
G
A
C
G
G
T
C
A
C
G
T
C
A
G
C
G
T
C
C
G
T
T
C
C
A
G
G
C
C
G
A
C
T
G
G
C
A
G
T
C
T
C
1350
C
G
T
T
C
T
A
C
A
T
T
A
A
C
G
T
C
A
G
C
A
C
T
C
C
C
G
T
T
A
A
A
A
A
T
A
A
T
G
C
A
T
C
T
C
TCCCA
1400
TGCCAGGAGG ACTTAGGTGC TGCTAAAGAC CAGCCCTCCG GGTGCTGCCA
1450
GGCCGGCGCT CACCCGCCAC CTTCATCTTC CCTTCTCCTT TGCCCCAGGA
1500
CAGCCGAGGA TGTGTGGTTA GGTTCCCCCT ACCCATGGGG AGGCCAGAGG
1550
TGGGAGGCTG GCGGCCTGCT CGGTCTCAGC AGACCCTCCT AGTCCCTCAG
1600
GAGACCTTGC CTTTGCCCCA CTTGCTCGTT ATCCAGCCTG GGCCATGAAG
1650
CAGAGGACAG TTAGGGACCC TGAGCACGCG GTGGTCACCC
C
GGTGCTCA
T
1700 |
var(1691):[T:0.01]
|
var(1700):[C:0.29]
CCCTCCCTGT GTGTC
C
GACC TTGGCCCTGC TAAGATC
C
T
G
T
CTGTGTTTT
1750 |
var(1716):[T:0.01]
|
var(1738):[-:0.79]
GAATTCTGGC AAGGGTTGGA TGAA
A
GGGCA GGGCTCCAGA AACCAGCTCA
1800 |
var(1775):[G:0.06]
GACGTTTGCT TGGGACCTGC ATGATGAGTG GGAATCGGAG GGCACCAGCC
1850
CTGCTGTCCC AGGCTCAGGC CCCCATCTGC TCCCCAGGTC ATGCAG
C
C
T
G
1900 | Exon 1 |
UTR
G
G
C
C
C
C
C
A
T
G
C
C
G
T
G
C
A
G
C
T
C
G
C
A
C
A
T
A
T
G
T
G
G
G
G
C
A
G
A
G
C
A
G
C
C
A
C
C
C
T
1950
G
C
C
C
C
C
A
G
C
A
G
C
A
G
C
C
G
T
C
C
A
T
C
G
T
C
A
G
A
C
G
T
G
A
T
C
A
T
T
T
C
C
T
G
A
G
G
C
C
T
2000 |
var(1973):[T:0.12]
|
REPEAT
C
G
A
G
T
G
T
G
T
C
A
G
G
G
T
G
T
T
T
T
G
T
G
C
C
T
C
A
T
A
A
C
A
A
C
C
C
A
C
A
G
G
A
T
G
G
T
C
A
C
2050 |
var(2017):[-:0.90]
|
var(2028):[G:0.21]
M V T 3
C
C
C
C
G
C
T
T
T
G
C
A
G
A
T
G
A
A
G
A
A
A
C
C
A
A
A
G
C
A
G
GTGGTCAGA TCCAGTCCTT
2100
P A L Q M K K P K Q 13
GCACTTCCTG AGCCTGACCT TACCACACAG CTGTCTCCTA TTCGGATGCT
2150
TATTT
A
TTTT TTTTCCCATT ACAG
T
T
T
T
G
C
C
G
A
C
G
G
A
T
G
G
G
G
C
A
A
A
A
G
A
A
2200 |
var(2156):[T:0.01]
| Exon 2 |
var(2199):[C:0.01]
F C R R M G Q K K 22
G
C
A
G
C
G
A
C
C
A
G
C
T
A
G
A
G
C
A
G
G
G
C
A
G
C
C
A
C
A
C
A
G
C
T
C
G
T
C
C
G
A
C
G
C
A
G
C
C
C
2250 |
var(2243):[T:0.02]
Q R P A R A G Q P H S S S D A A 38
A
G
G
C
A
C
C
T
G
C
A
G
A
G
C
A
G
C
C
A
C
A
C
A
G
C
T
C
G
T
C
C
G
A
T
G
C
A
G
C
C
C
A
G
G
C
A
C
C
T
2300 |
var(2282):[G:0.02]
Q A P A E Q P H S S S D A A Q A P 55
T
G
C
C
C
C
A
G
G
G
A
G
C
G
C
T
G
C
T
T
G
G
G
A
C
C
G
C
C
C
A
C
C
A
C
T
C
C
G
G
G
C
C
C
A
T
A
C
C
G
2350 |
var(2339):[A:0.02]
|
var(2346):[C:0.01]
C P R E R C L G P P T T P G P Y R 72
C
A
G
C
A
T
C
T
A
T
T
T
C
T
C
A
A
G
C
C
C
A
A
A
G
G
G
C
C
A
C
C
T
T
A
C
C
C
G
A
C
T
G
G
G
G
T
T
G
G
2400
S I Y F S S P K G H L T R L G L 88
A
G
T
T
C
T
T
C
G
A
C
C
A
G
C
C
G
G
C
A
G
T
C
C
C
C
C
T
G
G
C
C
C
G
G
G
C
A
T
T
T
C
T
G
G
G
A
C
A
G
2450 |
var(2405):[T:0.21]
E F F D Q P A V P L A R A F L G Q 105
GTAATGTGAA CATAGCAGCG AGGGCCCTCC TGAAGTGCCT GTCACTGCAG
2500
TTGTCCCTGA ACCCCTGTCC GCTGCCTGCT GGATTGGCCC TCAGTTAGTC
2550
CTCCTTGTCC TC
A
TGCATTT AGCGGCTTTG CTCACACTGG TCCCTGCTTA
2600 |
var(2563):[G:0.01]
GCTTCATCTC AGTTGCCTGA GGTCATCTGG GAAGAATGTA GAGATTGTCA
2650
GTG
C
TGCTTG CCCAG
G
G
T
GG AGCAGGGGTG CCACTGTCTG CCCCCGGCTC
2700 |
var(2654):[T:0.03]
|
var(2666):[C:0.02]
|
var(2668):[G:0.02]
TGGGCATCTA GGGCAGGAGC ACTTGCACCG TTAGCCTTCC TCACCGGCAA
2750
TCCACCTCAG TTTTTCCACA CGTGGGAACT GTGGCTGTGG CCAGTGTCGG
2800
GCTGCCCCTT CCCGCTGTAG TGGCTCAC
A
G TGCAGTGCTG GCTTCCCAGG
2850 |
var(2829):[G:0.01]
G
C
CCCTGCAG CTTAATGTAG GTCAAGGATC TGGGCTCTGC CAATCAGACT
2900 |
var(2852):[T:0.01]
TGGAGTAAGA AGCAGGGA
C
T GCCCAGGTCC CATCCTGGTG GGGCCT
A
C
GG
2950 |
var(2919):[G:0.02]
|
var(2947):[G:0.19]
|
var(2948):[T:0.16]
TGCAGCCTGT CCCCACGAGC AGATGCTCAC ACAGCCGTGG CATCTTGGCT
3000
GGATCTGTTG GGAGCGAGGT GGTGGCGGTG GTCCTCGATG CCAAAGCCCC
3050
AGGCCTGCCT TTCTGGTTCT CCAGAGGCTC CAAGGCCTTC CCTTTGTCCT
3100
TTAATGAGCC TACTTTTAGG TTATAATCAC CAAGAAGAAC CAGAAGAGAA
3150
ATACCA
G
TGC CAGGAGTTGG GTGCTAAAG
G
AGCAGACCCT AGAA
T
GTGGG
3200 |
var(3157):[C:0.02]
|
var(3180):[C:0.02]
|
var(3195):[C:0.01]
CTC
G
ACCTCA TGGAGAACAG AGAACATTC
T
GTCCCCATGC GGATCCTTCT
3250 |
var(3204):[A:0.01]
|
var(3230):[C:0.01]
AAAAGCACCT TAAGTAATGG GCATTTGT
G
G
C
C
A
G
G
T
G
T
G
G
T
G
G
C
T
C
A
T
G
C
3300 |
REPEAT
C
G
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
G
G
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
3350 |
var(3331):[C:0.12]
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
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
3400
A
T
A
C
A
A
A
A
A
T
T
A
G
G
T
G
G
G
T
G
T
G
A
T
G
A
C
G
G
G
C
G
C
C
T
C
T
A
A
T
C
T
C
A
G
C
T
A
C
T
3450 |
var(3414):[C:0.26]
|
var(3432):[A:0.01]
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
3500
G
A
G
A
G
C
T
G
A
G
A
T
C
A
C
G
C
C
A
T
T
G
C
A
C
T
C
C
G
G
C
C
T
G
G
G
C
G
A
C
A
G
G
G
C
G
A
G
A
C
3550
T
C
C
G
T
C
T
C
A
A
A
A
A
T
A
A
A
A
A
A
A
A
A
A
TACAAT GGGCATTTGT GATACAACAA
3600
AAC
A
GCACGT GTGGCAGGTG CGTCGTAGGA ACAGGGCAAG GG
C
C
CAGCAT
3650 |
var(3604):[G:0.12]
|
var(3643):[T:0.01]
|
var(3644):[G:0.22]
GGCATCAGGG ACCACAATAC GTTTGTCTCT ATTCAGCATC CTTGTCAGGC
3700
CACAGTCATG CCCACTTGAG CCCATTGGTG GACAAGATGA TGTCCAGCAG
3750
AGAAGAGGGT GTCTCACCCT GTGTCCCTTG GATCAGGGAC AGCCCTCTGC
3800
CCTCTCCATA ACCTCCTAGT GGATGCCCTT GCAGACCCCT CAGCCAGGCT
3850
TGGGTCATG
T
ACTCATCCCT AAAAGGGTCA CTGCAGTGAG TTGCCATGAA
3900 |
var(3860):[C:0.23]
ATCCCAGGCC ACTCTCTGGG CTGAGGAGGG TGTGGTCTCC CCCAGGAGGC
3950
TCTGCCAACA AGGAAGA
G
GG GTGTGTGTTG GCCATGGGGG TGGGGAGGGG
4000 |
var(3968):[A:0.01]
TGAGAGGCCC CAGTATCTGC CACTGGTGGA AATGGTATCA GTGAAATCCT
4050
GATCAGAAAT TTGGGATGGA AAAGGAAACA ATGAGAAAAG GGCTGTGGGA
4100
ACCTCCTCTC CAGAGTGGTA GTTGGGCCCC CCCAGTGTGC CCCCATGGAG
4150
GCACAGGAGT GTGCAGAGTG AAGCCCCTGG AGGGGCATTC CCTCTAAGCT
4200
CCAGGGAAGA TGGAACAGG
G
CCACCCTTTC TCCCCTGGAC ATGGCCTGGC
4250 |
var(4220):[A:0.08]
CAAGCCTGGC CTGTTCACTT CTGTCCTCAT GGCTCTG
G
A
T
G
C
C
T
A
A
G
G
A
T
4300 |
NOT SCANNED
T
T
C
G
G
G
C
T
T
C
C
C
G
C
A
C
A
G
G
C
A
C
T
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
T
C
T
C
4350
C
A
G
G
A
A
G
G
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
A
C
A
C
T
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
4400
C
T
A
T
C
T
C
C
G
G
G
A
A
G
G
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
A
C
A
C
T
G
A
C
C
C
C
T
T
C
T
T
C
C
4450
C
A
C
C
A
C
C
C
T
A
T
C
T
C
C
G
G
G
A
A
G
G
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
A
C
A
C
T
G
A
C
C
C
C
4500
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
C
C
T
C
C
G
G
G
A
A
G
C
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
G
G
C
G
C
4550
T
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
T
C
T
C
C
G
G
G
A
A
G
G
C
C
T
C
C
T
G
A
A
T
G
C
T
C
4600
C
C
G
G
C
G
C
T
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
C
C
T
C
C
G
G
G
A
A
G
G
C
C
T
C
C
T
G
4650
A
A
T
G
C
T
C
C
C
C
G
C
G
C
T
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
C
C
T
C
C
A
G
G
A
A
G
C
4700
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
G
C
G
C
T
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
T
C
T
C
C
4750
G
G
G
A
A
G
C
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
A
C
G
C
T
G
G
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
4800
T
A
C
C
T
C
C
G
G
G
A
A
G
G
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
A
C
G
C
T
G
G
C
C
C
C
T
T
C
T
T
C
C
C
4850
A
C
C
A
C
C
C
T
A
C
C
T
C
C
G
G
G
A
A
G
C
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
A
C
G
C
T
G
G
C
C
C
C
T
4900
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
T
C
T
C
C
G
G
G
A
A
G
C
C
C
T
C
C
T
G
A
A
T
G
C
T
C
C
C
C
G
C
G
C
T
4950
G
A
C
C
C
C
T
T
C
T
T
C
C
C
A
C
C
A
C
C
C
T
A
T
C
TCC
G
G GAAG
G
CCTCC TGAAT
A
CTCC
5000 |
var(4979):[A:0.01]
|
var(4985):[C:0.21]
|
var(4996):[G:0.24]
CCCGGCGAGC ATCTAAGCTC CAGTGCCCCT CCTCCCCAGC CCGTGATACT
5050
GACCATGGCC TTTGGCACCA CAGGGCTTCG TGGGCTGAGG TGAAGGTAGC
5100
CTGGCTGTCC AGCTGACCTA TCTGGCCTAA AAACGAGAGG TGCAGGGGAT
5150
GTGGTTGGTC CCCAGTGCTC TGCTGTTAAC TCTGGGGCTC CGAGCAGTGA
5200
CACAACTGTT GGCCGTTACC AGGACCATGG TCCAGGCTGG GGCACCGTGG
5250
GGCAGCTGG
A
CCTACTGCTC AGAAAGCCGG AGGGTGGGAG CTGAGTATGA
5300 |
var(5260):[G:0.49]
GGGTCCCTTG TGGCCACCTC AGCAGCCCAG GTTTAGGGGA CTTCACGGGC
5350
TCTGGGATTG CCCAGGTAGC TGGTGTGGGG ACATCCTTGG GGTCCTGTGC
5400
CTTCCGTGAT GCCTGGCCTC GTGCTAAATG CTGATGGTTT TCTCAAGGGC
5450
ACTTGGGAAA GGAGGAATCT GGGGAATGGA GGGTCCTGCT GAGAGGACTT
5500
GACCTGCAAG GTGAATCCAT GACTGCCGGT TCCCAGCCCA GCCTGGCTGT
5550
GGCCTGAGGT ATCTTCGGCC TGCGGTCTGG TTGTCTAGCA GGGCTGGAG
G
5600 |
var(5600):[A:0.01]
AGACAACTGG TGCCCTCAA
T
AGCCACATTC AGCCTCAGCA GGAGCAAGAG
5650 |
var(5620):[C:0.01]
AAGAGGCAGG ATGGAGACGG GGCAAGGTCC CTGGCTAGAC CTGGGCGGCT
5700
GACACACCCT GAGCTGGGGA GATGAGGTCC AGGCTGGGCA CTGTTAGGGT
5750
GAGTGGACCC CCATCCCTTC CCGCCCTGAG CAGAAACTGA CTGCCCACAG
5800
105
G
T
C
C
T
A
G
T
C
C
G
G
C
G
A
C
T
T
C
C
T
A
A
T
G
G
C
A
C
A
G
A
A
C
T
C
C
G
A
G
G
C
C
G
C
A
T
C
G
T
5850 | Exon 3
V L V R R L P N G T E L R G R I V 122
G
G
A
G
A
C
C
G
A
G
G
C
A
T
A
C
C
T
G
G
G
G
C
C
A
G
A
G
G
A
T
G
A
A
G
C
C
G
C
C
C
A
C
T
C
A
A
G
G
G
5900
E T E A Y L G P E D E A A H S R 138
G
T
G
G
C
C
G
G
C
A
G
A
C
C
C
C
C
C
G
C
A
A
C
C
G
A
G
G
C
A
T
G
T
T
C
A
T
G
A
A
G
C
C
G
G
G
G
A
C
C
5950
G G R Q T P R N R G M F M K P G T 155
C
T
G
T
A
C
G
T
G
T
A
C
A
T
C
A
T
T
T
A
C
G
G
C
A
T
G
T
A
C
T
T
C
T
G
C
A
T
G
A
A
C
A
T
C
T
C
C
A
G
6000
L Y V Y I I Y G M Y F C M N I S S 172
C
C
A
G
G
GTGAG CAGTGCTGGG GCACGGGGG
G
TTGGAGGGCC GGCAGAGCCC
6050 |
var(6030):[C:0.01]
Q 173
TGTCCGCTAG CAGCCAGGGG ACCACTAGGA GGACTGAGGT GGGGCCAGCA
6100
TTTGAGCGAG GAGGTGCCAC TTCCAGGCCA GGCCAGGGTT TCGGGAGCTC
6150
TGGCTACGCT GACGGGGCAG GGCTGGTTAG GTTAAAGGGG TAGAAAGGGC
6200
CGGGTGG
G
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
C
A
T
C
C
C
A
G
C
A
C
T
T
C
G
G
G
6250 |
REPEAT
|
var(6216):[A:0.01]
A
G
G
C
C
G
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
C
A
C
C
A
G
C
C
T
G
G
6300
C
C
A
A
C
A
C
G
G
T
G
A
A
A
C
T
C
T
G
T
C
T
C
T
A
C
C
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
T
6350
G
T
G
G
T
A
G
T
G
G
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
A
G
G
G
A
G
G
C
G
G
A
G
G
C
A
G
G
A
G
6400 |
var(6363):[T:0.26]
A
A
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
G
G
A
G
C
C
A
A
G
A
T
C
G
C
G
C
C
A
6450 |
var(6438):[G:0.01]
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
6500 |
var(6458):[G:0.01]
A
A
A
A
G
G
A
A
A
G
G
A
A
A
A
G
A
A
A
G GGTTGGTTGG AGTGGAGGCA GAAAGAAGGC
6550 |
var(6516):[T:0.01]
CGAGGACACA GTGTCGCCTG CCCTTGACGG AGGCAGCACA TGAGGATGAG
6600
AAGCTGATTG GAGAAGAGGA TGACTGC
A
GT GCTAAGAGCA GCGTGGTCAG
6650 |
var(6628):[G:0.04]
GTTGCCAAGG ATGGAGCAGT GGGCACAGCA GGGGGACTTA GGGTC
A
GCGG
6700 |
var(6696):[G:0.30]
AGGAGTCGGT GAGGAAAGGG AGGTTTGGCA GGAAGTGATC AAAGGGGTCA
6750
TGTTTTTGTC AGGATGTGGG ACTTGGATGT GTTCTGTGTG AAGGAGCCAG
6800
GGCACGGGGC TGTGGTGATG AGGG
C
GGCCA GGCTTTGACT CATTTGCAGG
6850 |
var(6825):[T:0.01]
CGGCTCTGTG GGGGCTCAGT GAG
A
CAACGA GGGGCGTGTG CCCTGCACCC
6900 |
var(6874):[C:0.01]
ACAGGGATGT AGAGGGTCCT GCTCCTCCCT ACTGAGGTGG GTCAGGGTGG
6950
GCAGCAGGCA CCCCACCTGG TGAGCTGGAA GCAGCGTGGG AATCACAGAA
7000
TGGACGGGAA CTTAAAGGCT TTGCTTGGCC TGGATTTTAT CTTGAAATAC
7050
TTTTGACAGC TGGCTGGTTG AGGGTATCTG CTCACAGGAA CGCCGCATTT
7100
GCTGGCTTTG TCCACTAGTG CTCGCCCCTG GCTGCTGATG CGGAGCCTCA
7150
CGTGGCCGCA GCCCAAGAGT AGGGACTGGC TTGGCCACCT
A
CAGGCTAAG
7200 |
var(7191):[C:0.28]
CTTCGG
G
CTC CCAGGTGGCT GGGAG
G
GCCA GGGGTGCACA GGTGCATCAG
7250 |
var(7207):[A:0.27]
|
var(7226):[A:0.01]
AGCAGGTGCT GCCTTGCTGG AGGGCCAGGG CTCTTCTGGC CAGGGTCCAG
7300
GTCATCATTG TCCCCAGCCA GGAATCCAAG GGGCCTTTCC AAACCTGCAG
7350
GGCAGAGGGA ATTCGGGTAT CTGTGCTTGA GTGAGCCCCT GGGCCCAGGA
7400
GCCTTCGCTT GCTGTCTCTG TTTCTCAAGG GGCCTGGCCT GGTGAGGGAG
7450
GGGGCTAGGC TGGAGGAGGG ATCCCAAGGG AGGTGAGGGG GCTT
C
GTCAG
7500 |
var(7495):[T:0.15]
CCTCCTCCTG CCCTGCCTGT GCAGGGTGTT GCAGTCAGTC CTTCCACTGA
7550
GTCATTGCAT GGGCTCTCCC AACATCCGGT GCACACTGGC AGCTGCTCTA
7600
AGCCAACTCC TAGCCCCCAC CACTTGACCA ACACAAACAC TGAGTGGGTG
7650
AGGCAGAAGG GGAGCGCTGG GGCCTGGCTA GGC
C
AAGGCT TCCTGCTTCC
7700 |
var(7684):[T:0.01]
TGGCTGAATG ATCGCACCCG AGGACTGGCT CTCTGGAGCT TCCTTTGCTG
7750
GCTTTATAGC TGCTGCCAGT CACAAGACCA GGGGAAGCCA GGTGGAAAGG
7800
AACTGATACC CAGCATTTGT CATGTGTTTT TAACAGTCTG GCTTTGTGGG
7850
GGCGGCCACA GTGGGGGAGG CCCTGCCTGG TGGTGGAAGC CAGAGGTGCC
7900
CACAGGAGGC ACACCTCATG GTGCAGGCTT GGAGGATGGC AAGGTAGGCA
7950
GAGGGGTCTG GACACAGTGA GGTGCAGCCC CCTCCCACCA GGTCAGACCC
8000
AGGAGATGGT GCAGGTGCAC AGAGCAGGTC CCTGGCCCAG GCAGGAAGGC
8050
AGCTGCACCC TCCCTGCAGC ACAGGATGTC TGGATGTGTA CTAGGGCAGA
8100
GAGGACAGGA GCCTAGGGAG GCTCCACTTC CAAACTGTCC GTCCCACAG
G
8150 | Exon 4
G 174
G
G
A
C
G
G
G
G
C
T
T
G
C
G
T
C
T
T
G
C
T
G
C
G
A
G
C
A
C
T
G
G
A
G
C
C
C
C
T
G
G
A
A
G
G
T
C
T
G
G
8200
D G A C V L L R A L E P L E G L 190
A
G
A
C
C
A
T
G
C
G
T
C
A
G
C
T
T
C
G
C
A
G
C
A
C
C
C
T
C
C
G
G
A
A
A
G
G
C
A
C
C
G
C
C
A
G
C
C
G
T
8250 |
var(8226):[T:0.01]
E T M R Q L R S T L R K G T A S R 207
G
T
C
C
T
C
A
A
G
G
A
C
C
G
C
G
A
G
C
T
C
T
G
C
A
G
T
G
G
C
C
C
C
T
C
C
A
A
G
C
T
G
T
G
C
C
A
G
G
C
8300
V L K D R E L C S G P S K L C Q A 224
C
C
T
G
G
C
C
A
T
C
A
A
C
A
A
G
A
G
C
T
T
T
G
A
C
C
A
G
A
G
G
G
A
C
C
T
G
G
C
A
C
A
G
G
A
T
G
A
A
G
8350
L A I N K S F D Q R D L A Q D E 240
C
T
G
T
A
T
G
G
C
T
G
G
A
G
C
G
T
G
G
T
C
C
C
C
T
G
G
A
G
C
C
C
A
G
T
G
A
G
C
C
G
G
C
T
G
T
A
G
T
G
8400
A V W L E R G P L E P S E P A V V 257
G
C
A
G
C
A
G
C
C
C
G
G
G
T
G
G
G
C
G
T
C
G
G
C
C
A
T
G
C
A
G
G
G
G
A
G
T
G
G
G
C
C
C
G
G
A
A
A
C
C
8450 |
var(8402):[T:0.01]
A A A R V G V G H A G E W A R K P 274
C
C
T
C
C
G
C
T
T
C
T
A
T
G
T
C
C
G
G
G
G
C
A
G
C
C
C
C
T
G
G
G
T
C
A
G
T
G
T
G
G
T
C
G
A
C
A
G
A
G
8500
L R F Y V R G S P W V S V V D R 290
T
G
G
C
T
G
A
G
C
A
G
G
A
C
A
C
A
C
A
G
G
C
C
T
G
A
G
C
A
A
A
G
G
G
C
C
T
G
C
C
C
A
G
A
C
A
A
G
A
T
8550 |
var(8521):[T:0.01]
|
UTR
V A E Q D T Q A 298
T
T
T
T
T
A
A
T
T
G
T
T
T
A
A
A
A
A
C
C
G
A
A
T
A
A
A
T
G
T
T
T
T
A
T
T
T
C
T
A
G
AAAACTGTG
8600
CCTTAGCCAG AGCTCCTCTA GGTGATCAAC CCATGTCTGG AGCTAGCTCT
8650
TCCTCCAGGA CAC
G
AGAGCT GGGGGCCTGA GTACGTAGCG CCAGGCCCGG
8700 |
var(8664):[A:0.01]
TGTGGATGCT GGGGAGAATC ATCAGTGTGG GAGCCGAAAG CCCCCGAGGG
8750
TGGGGTCCTG CACAGTGGGC CATGCCTCCA CCAGCAAGAT GTGCACAGGT
8800
GACAGGGCTT CTCCAGCCTA GCAGGGCCAG CCCAGGCCCT CGTG
C
CCCAG
8850 |
var(8845):[A:0.01]
ATGGTCAGGA CCAGGTCACA GCTTGGCTAT GAGCCTGTTT G
T
GGCTTCTG
8900 |
var(8892):[C:0.14]
TGGA
C
TGTGG TGAGGACTGG GCCAGGAAAG GCTCAGGGTA GCCTGGGAGG
8950 |
var(8905):[T:0.01]
AAGAAGCGCA TGGCAGACAG AGGTGCTGGG GAGGGGGCCA CAGGGCACTT
9000
CACAAAT
G
GA AGGCTGTCAG AGAGACAGGG ACAGGCCACA CAAGTGTTTC
9050 |
var(9008):[A:0.16]
TGCACATTCT TCAGGGTGGC CACAGACTGG GGGGTCCAAG GAGCAGGTGT
9100
AGGGACAGAA GGAGGGTCTG AGAAACGCAC AGCCCACATG GGCCTTGAAG
9150
GATGCGGCCT CACCCAGAGA CAGGAGTCCT GGCAGGCCCC CCTCCAGCGT
9200
GGAGATGCCT ACGCGTGCGG CAAGGACTGG AGGGAAGCGT AGGAACACAG
9250
AGGGCAGCAG CCCCACAGCG GAACCACCAG GGGCAAGGAC AGCGGGGCTC
9300
TGCAGGCTTC ACTGGGCCAC GGCCAGCCCG CATCCACCCA ATGCCAGGCC
9350
TCAGGGCCAA GAGGGCTCAG CCTCAGCACG GGGGGAGCCC TGGGGTGGGG
9400
AGACGCGAGC GCCCACCTGC GCACCCCAGC AGCCTTCCGC CCTCCGCCTG
9450
GGCTCAGGGG AGCAGAGCCT GGAAGACGGC AATGACAGGG TCCTCGTGGG
9500
TGGTCACCAC CAGCACGCTG CGGAACTTGT CAAACAGCAT GAGCAGCTGG
9550
GAGCGCCGCG TGTTCTCGTT GTACATAATC TCCTCCAGGT GGTGGCGGCC
9600
GCGGAAGTAG TGAAGGAGCC TGGAAGGGAT GGGTGGG
C
GT GAGCCCAACC
9650 |
var(9638):[T:0.29]
TGACACCAGC CCCCAGAGGC CTCTGCTGAA GAGCCACTGC TGGGAATCAG
9700
CTCTGAGCTG CCCACAGGCC TGAACAGAGC TGGTGGTGAA GGCCAGGGAG
9750
GCAGCCACCA CAGCCCCCCA ACAAGGGTGG GCAGGCCTCC TGGACCCCAT
9800
GCCCACCACG GTCCCGCTGA CCACCAGGTG GGCGGAGTGG GTTCAGGACG
9850
GCAGACGGCT GTTCAAACCC AGAGGTGCCC AAG
C
CTGCGT CCTGATGTTG
9900 |
var(9884):[G:0.01]
GGACCAGGGT TCTGCTGGTG GCTTCTTTTT CGTGCTACAG TGAGTCCCAC
9950
GTAGCTCTGG AGCCAAATGG TC