MAD2L2 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
CAGTCTGAAG GGCTCCTTTG CAAGGAGTTG CCCCCTATGA CTGCCACTGC
50
CTGTCACCAA TGCAAAAGCT GCTTAAGCAG CCTCCAGAGA GGGAAAG
G
AA
100 |
var(98):[A:0.01]
AGACCCTTGC TTTTCCCAAG TTCTGCAATG AGTCAGTCTC AAGGAGCCAC
150
GGAACTCTGT GTATAAGCCA GTGAGTTGCT TGGCCAGCTC TGTGTGGAAA
200
TGGCATGATG TGTGCAGGAT CCCCATATCT TGAGAATGGT TGCTGTGCCC
250
AGAATGTGCT GCCAAGTGCA CCAGTTCCTA AAACAAAATC ATCCATCCCT
300
TTGGATGGAT GATTTTACAT CACAATTTTA CAAAATGCAT CGCATTTTTA
350
CAAAATGAAG ATA
T
TCTCTG GGAACAGTCC AAACCTCTGT G
G
T
G
A
T
T
C
C
C
400 |
var(364):[A:0.01]
|
REPEAT
A
C
A
C
T
T
T
G
C
T
G
G
G
C
A
T
C
C
G
G
G
C
C
C
C
T
G
G
G
G
A
G
C
T
T
G
T
T
A
A
A
G
G
G
C
C
A
G
T
G
450
C
C
C
T
G
C
T
G
T
G
C
A
C
C
C
C
A
C
C
T
C
G
A
T
C
A
G
G
T
T
G
C
T
C
T
A
G
G
C
A
G
C
A
G
G
G
C
A
G
C
500 |
var(495):[A:0.01]
T
G
T
G
A
T
T
A
A
T
G
G
G
C
T
C
C
T
G
G
G
G
G
A
T
T
C
T
G
A
T
G
C
A
G
A
T
T
T
C
C
T
A
G
G
A
C
T
G
C
550
A
T
T
T
G
A
A
G
A
A
ATGTTTTGCT GACATTCCTA GCT
T
AATGGG TTACTTACAG
600 |
var(584):[C:0.03]
GTTACTTTTT CTCTCCCCAT TAGAAGTCTG GAAATGCAGG TTTGAAGGCA
650
TCAGGGGGCG GGGGGAGGGA TCCAGGTCTT CTATAATGAG CTGTAAACGA
700
TAAACAAGTC TGGCTAGATC TGTGTCCAAA CAGACGGATG GGACTAACAA
750
GCTCTTACGT CCCTGGAGGT CACAGACAAA GTCCT
C
T
T
G
G
C
T
T
C
T
G
G
T
C
C
800 |
REPEAT
T
G
A
C
T
T
G
T
T
G
C
C
C
A
C
T
A
A
C
T
C
C
G
T
A
G
C
T
G
C
T
T
C
T
C
A
G
A
T
C
T
T
A
G
T
T
T
T
C
T
850
C
A
C
T
T
G
T
A
A
A
A
T
A
A
G
G
G
G
G
C
T
G
T
A
A
A
T
A
A
G TGGAAGCCCT GGTGTCAGAA
900 |
var(868):[A:0.01]
GAGGCATCAG AGCTGGGTTT GTATTCCCA
C
T
G
T
G
T
G
A
T
T
T
T
G
G
C
G
A
A
T
T
A
950 |
REPEAT
G
A
G
A
A
C
G
T
T
T
C
T
G
G
G
C
C
T
G
T
T
T
A
A
C
C
A
T
C
T
G
T
A
A
A
G
T
G
G
G
G
C
T
A
T
A
A
A
A
T
1000 |
var(972):[A:0.01]
G
G
A
G
A
C
T
T
A
G
C
T
G
C
T
A
G
G
G
T
T
A
A
T
G
A
G
A
G
A
A
T
T
A
A
C
G
G
A
A
T
C
A
G
T
G
T
T
T
G
1050 |
var(1004):[A:0.01]
A
C
A
C
A
T
A
A
G
A
A
G
T
G
C
T
CGAT GTTAGTCATT ATTTTTTATT ATTTTA
A
TAA
1100 |
var(1097):[G:0.08]
TATCATCTCT GAGGGCCCTT ACAGGACTTC CAGACCGAGT CCACGCCCCT
1150
GGGGGACTTG GGAGCAGTAA AATGTAGTGG CAGGAGGC
A
C
C
T
C
G
G
C
C
A
T
C
1200 |
REPEAT
G
C
C
C
A
C
C
C
C
A
C
C
A
G
C
T
G
G
G
A
G
A
C
T
C
G
G
G
C
A
G
G
T
T
A
T
T
C
A
C
C
C
T
T
C
T
G
C
A
C
1250
C
T
C
G
C
T
T
G
A
C
T
T
A
T
C
T
G
T
A
T
A
A
A
G
A
G
A
A
C
A
G
T
C
A
C
A
G
T
A
A
C
T
G
C
C
T
C
A
T
G
1300
G
A
G
T
T
A
C
T
C
C
C
A
G
G
A
C
T
G
A
G
A
T
A
A
T
C
C
A
C
G
G
A
C
A
C
A
C
T
T
A
G
C
C
C
A
G
T
G
C
C
1350
C
A
G
C
A
C
T
C
G
G
C
T
G
G
A
G
C
T
C
C
A
A
A
A
A
G
G
T
C
A
G
C
T
A
T
T
G
T
T
A TGAAGCGTAG
1400 |
var(1375):[T:0.34]
GGCGGGGAGG GTTCATCCTC TTGGGCGGTC AGGCCAGGCT GCATTTAGGT
1450
ACCCGGT
G
GG GGCGGAGCAG GGGCGACGCC GGTGCACGCC CTCTTTTTTT
1500 |
var(1458):[C:0.01]
TATTTTTAAA ATTTCACCCG GGCCTTGACA ACCGGTACAA TCCTGTCCTC
1550
CCCTGTTCCC GCCCCCGAGC CAGAGGATTC
G
CTTTTGCGT GGGCAGCTGC
1600 |
var(1581):[A:0.01]
AGGGATGGTG ACTCGGGCTA GCTCAGATGT GGCTGCCGTT AGTCCCCAGC
1650
TGCGCGCTC
C
CCCG
T
CCCTC CCCAGCCCTC TTCCGGCGCC TGCTAAAGCG
1700 |
var(1660):[T:0.01]
|
var(1665):[G:0.18]
AGAGAAATGC CCTCGGGGGA AGATATGTAG CGATCCAATG GAACGTGGAG
1750
ATCAACGTTG TGTTTTCTTC GCGCCCACCC GAAGTTGAAG GGAGGTGGCG
1800
CGGCGGGTCT CAGCCCCTCC CGGACGCCGA GGCCCGGCCC CCGCCCCT
C
G
1850 |
var(1849):[T:0.01]
GAGACCCGCC CCCGCA
T
GCG GAACCGC
C
CT CTGCGAGGC
C
CGGTTTGGGC
1900 |
var(1867):[G:0.17]
|
var(1878):[T:0.01]
|
var(1890):[T:0.03]
CGTGCGGGAA TGGGCGTGGC CTGGG
C
GGGG CGGGCGCTAG GACCCACCGG
1950 |
var(1926):[G:0.02]
AGCGCCGTGA ACGTCACCGA GCGGC
G
C
C
G
A
G
G
C
C
C
C
G
G
G
T
T
G
A
G
C
G
G
G
A
G
2000 | Exon 1 |
UTR
G
C
G
C
G
A
T
C
G
G
T
C
C
G
G
T
C
G
G
T
G
G
C
T
C
C
C
C
G
C
G
G
C
G
G
G
G
C
C
G
G
G
C
C
C
G
A
T
C
T
2050
C
G
G
G
C
G
G
G
A
A
C
C
G
A
G
C
G
C
A
G
A
G
C
C
G
GTACT GGGGGAGGGG AGAGGGGGCG
2100
GGATTCCCGC CGGGAGGGAT CCGGCGTAGC AGGGGGCGGA GTCTTATTCC
2150
AACCCCGCTT CGCTTTCCGC ATGTCCCGCT TTGCGCTCCC GGCCCTGGGC
2200
ATCCCGCTGT TTCCCTCTG
C
G
T
C
C
G
C
G
G
C
C
C
T
G
C
C
C
T
T
T
T
C
G
G
G
G
G
C
A
C
A
2250 |
NOT SCANNED
G
C
T
G
T
G
G
T
C
T
T
T
C
C
A
C
C
C
C
G
C
G
A
G
A
C
A
G
C
G
G
G
G
C
G
A
G
G
G
G
G
C
G
C
G
G
G
C
G
G
2300
C
C
A
G
T
G
G
A
T
A
G
A
G
G
C
T
G
A
T
G
C
C
C
C
C
A
A
G
C
A
C
G
G
A
C
G
C
C
A
G
C
G
T
G
G
G
G
G
T
G
2350
G
A
G
G
T
T
C
T
T
C
C
A
G
C
T
G
C
C
C
T
G
A
G
C
C
T
G
T
G
C
G
A
A
G
C
G
G
G
A
G
G
T
C
C
T
T
C
C
C
C
2400
A
G
TTCCCACA GACTGTGGGG AGGGAAGAGA CGGTGGAAGC GAGCGGGTTC
2450
TGGGCTCCTG GGTCTCTGGA ACTACCCTCT GCCCTTG
C
CC CAACACTCAG
2500 |
var(2488):[T:0.02]
G
T
A
G
C
G
G
G
A
A
G
G
A
T
G
A
C
C
A
C
G
C
T
C
A
C
A
C
G
A
C
A
A
G
A
C
C
T
C
A
A
C
T
T
T
G
G
C
C
A
2550 | Exon 2 |
UTR
M T T L T R Q D L N F G Q 13
A
G
GTAGGGAG GCTGGACCTG CGGGCCCGGG GGCGGGGGCG TCTGGGCCGG
2600
13
CGGGCTTCCT C
G
AGCGCGCC ACCGGCTTGT GCCCC
C
CTGC AG
T
G
G
T
G
G
C
C
2650 |
var(2612):[C:0.01]
|
var(2636):[A:0.01]
| Exon 3
V V A 16
G
A
T
G
T
G
C
T
C
T
G
C
G
A
G
T
T
C
C
T
G
G
A
G
G
T
G
G
C
T
G
T
G
C
A
T
C
T
C
A
T
C
C
T
C
T
A
C
G
T
2700
D V L C E F L E V A V H L I L Y V 33
G
C
G
C
G
A
G
G
T
C
T
A
C
C
C
C
G
T
G
G
G
C
A
T
C
T
T
C
C
A
G
A
A
A
C
G
C
A
A
G
A
A
G
T
A
C
A
A
C
G
2750
R E V Y P V G I F Q K R K K Y N 49
T
G
C
C
G
G
T
C
C
A
G
GTGAGGCAC GTCCCAGAAC CACAGAGTGG GTACAGGGTG
2800
V P V Q 53
GACTTTTAAA AA
T
TCTTT
G
G
T
C
G
G
G
C
G
C
C
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
T
2850 |
var(2813):[C:0.48]
|
REPEAT
|
var(2830):[:0.34]
A
G
C
A
C
T
T
T
G
G
G
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
2900
G
A
C
C
A
G
C
C
T
G
A
C
A
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
2950
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
C
A
A
G
G
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
3000
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
C
C
T
T
G
A
A
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
G
3050
A
A
A
T
T
G
T
G
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
C
G
A
A
A
C
T
C
C
G
T
C
T
3100 |
NOT SCANNED
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
C
C
T
C
T
T
C
C
A
C
T
T
C
G
G
G
C
C
A
A
G
C
3150
C
A
C
C
T
C
A
T
T
C
C
G
C
A
G
G
G
C
C
C
T
G
C
C
C
A
T
G
C
C
T
T
C
C
A
A
T
G
C
C
T
T
C
C
A
G
T
T
C
C
3200
A
A
A
G
T
G
G
T
G
A
T
G
C
C
T
A
C
C
C
A
C
C
C
C
T
C
A
G
A
A
G
A
G
A
G
T
T
C
C
C
C
T
T
G
C
C
A
G
A
A
3250
G
T
T
A
G
G
G
A
C
C
A
G
G
C
C
T
G
A
T
A
A
G
A
G
T
T
A
C
C
C
C
G
G
G
G
G
T
G
G
C
C
G
G
G
C
A
T
G
G
T
3300 |
REPEAT
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
G
G
C
T
G
A
G
G
C
G
G
G
C
G
A
A
T
C
A
3350
C
A
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
A
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
A
T
G
A
G
A
T
C
C
T
G
T
3400
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
C
T
G
G
T
G
T
G
G
T
G
G
T
A
C
G
C
G
C
C
T
G
T
A
A
3450
T
C
C
C
A
G
T
T
A
C
T
A
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
C
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
T
G
3500
C
A
G
A
G
G
T
T
G
A
A
G
T
A
A
G
C
C
C
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
3550
C
A
G
A
G
C
A
A
G
A
C
T
A
T
G
T
C
T
C
C
A
A
A
A
A
A
A
A
A
A
G
T
T
A
C
C
C
T
G
G
G
G
G
C
A
T
G
G
T
G
3600
G
C
A
C
T
T
T
G
A
A
G
G
A
G
C
T
C
G
T
G
A
A
G
C
T
G
G
T
G
A
A
C
C
T
T
G
G
T
G
T
G
A
G
G
A
G
G
G
T
A
3650
T
T
T
C
C
A
A
A
A
A
C
C
T
C
C
A
A
A
T
C
T
T
C
T
C
C
C
T
A
C
C
A
T
T
T
A
T
C
C
T
A
A
A
C
T
C
A
A
T
G
3700
G
G
T
T
A
A
G
G
C
T
A
A
A
A
G
G
C
A
G
A
C
A
A
A
G
C
A
G
T
G
T
G
C
A
T
C
G
C
A
C
T
G
T
A
G
C
T
C
C
A
3750 |
REPEAT
G
T
C
C
C
T
A
G
A
A
G
T
G
C
C
T
G
T
C
T
C
T
G
G
A
A
G
G
C
A
C
T
C
A
G
G
A
A
A
C
A
T
GAGAATAA
3800
GTGGTAGAAG CT
C
AAAGGAC ATCCAGGTGG TCCC
C
G
C
T
T
C
A
A
G
T
C
C
C
C
A
C
3850 |
var(3813):[C:0.42]
|
var(3835):[T:0.15]
|
REPEAT
A
C
C
A
C
C
A
T
T
G
T
T
T
T
C
T
C
A
C
T
T
C
C
A
G
T
A
T
G
G
T
A
T
T
C
A
A
G
A
C
A
T
T
A
C
T
T
G
A
G
3900 |
var(3865):[G:0.01]
|
var(3899):[G:0.09]
G
T
A
G
T
C
A
G
C
A
C
T
T
T
A
T
T
T
T
T
T
A
T
T
T
T
A
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
T
T
T
3950 |
REPEAT
G
A
G
A
C
T
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
T
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
4000 |
var(3978):[A:0.03]
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
4050 |
var(4019):[G:0.15]
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
G
T
G
T
G
C
C
A
C
C
A
C
A
T
C
T
G
G
C
T
A
A
T
4100
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
A
G
G
T
T
T
C
G
C
C
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
4150 |
var(4133):[A:0.02]
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
T
G
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
A
G
T
G
C
T
4200 |
var(4192):[T:0.15]
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
A
C
T
T
T
A
T
T
A
T
G
A
A
A
C
A
G
G
T
T
T
T
G
T
G
T
T
A
G
A
T
A
4250 |
REPEAT
A
T
G
T
T
G
C
C
C
A
A
C
T
G
T
G
G
G
C
T
A
A
T
G
T
G
T
T
T
T
G
A
G
T
G
T
G
T
T
T
A
G
G
T
A
G
G
C
C
T
4300
G
G
C
T
A
A
G
C
T
A
T
G
A
T
G
T
T
C
T
G
T
A
T
G
T
T
A
T
G
T
G
T
A
T
T
A
A
C
T
G
C
A
T
T
T
T
C
C
G
C
4350
T
G
G
C
G
A
T
A
T
T
T
G
A
T
T
G
G
T
T
T
A
T
C
C
A
A
A
C
A
T
A
A
A
C
C
C
A
T
A
G
T
A
A
G
T
T
G
A
A
G
4400 |
var(4361):[C:0.20]
|
var(4365):[G:0.20]
G
T
C
A
C
C
T
TTA GAGGGGAAAG GAAAAAACAA TTGA
C
A
T
T
T
A
C
T
C
A
C
T
T
C
T
T
4450 |
REPEAT
|
var(4445):[:0.01]
C
T
T
T
A
T
G
A
T
G
A
A
G
T
G
A
T
T
G
A
A
G
C
C
C
A
G
A
G
A
A
G
T
T
A
A
G
G
A
A
T
T
T
G
C
C
T
G
A
G
4500
G
C
C
A
C
A
C
A
G
T
T
C
C
T
T
A
G
T
TC TTAACTTTTG ACATCTGATT ACATTTTCCT
4550
GGATCCTTTT TCTGGAAAAA TGCCCAAGTG CACAAAGATA CAACTTTAGG
4600
GATTTTTCAG ACTCTGGAGG AGTCCATGGA CCCCACATTA AGAACCCCTA
4650
ATGGTATATT AAATGCTCAT ATTGGGATTG AG
T
T
C
T
T
A
T
C
T
T
T
C
T
T
T
T
C
C
4700 |
REPEAT
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
T
T
G
T
T
G
C
C
C
A
A
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
T
T
G
A
4750
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
4800
T
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
C
A
C
C
T
C
A
C
C
T
G
G
C
T
A
A
T
T
4850 |
var(4846):[T:0.37]
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
T
G
C
C
A
T
T
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
4900
C
A
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
C
A
C
C
T
C
A
T
C
C
T
C
T
C
A
A
A
G
T
G
C
T
G
4950
G
G
A
T
T
A
G
A
G
G
A
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
A
G
C
C
TGAGTTCTT ATCTTCTAAC
5000
TTCTTTCTCT ATGGATAAGT TCACAGTTCT TAGCCTCTGG
T
T
T
T
T
T
T
T
T
T
5050 |
REPEAT
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
T
G
C
C
C
A
T
G
T
T
G
C
A
G
T
G
C
A
G
T
G
G
C
5100
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
T
T
5150
T
G
C
C
T
T
A
G
C
C
T
G
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
T
G
C
C
C
G
5200 |
var(5200):[A:0.01]
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
T
G
G
G
G
T
T
T
C
A
C
C
A
T
A
T
T
G
G
C
C
A
G
G
5250 |
var(5249):[A:0.01]
C
T
G
G
T
C
T
C
G
A
A
T
A
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
5300 |
var(5289):[A:0.04]
T
G
C
T
G
A
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
G
G
C
C
AGTT CTTAGCCTCT
5350
TGAGGGAAAG TGGGGTCTCC TGGGTAGGGA GCCCTGGAGA GCTGCTGGGC
5400
CTC
G
GACCGA AGGCAGATGG GGCCTTAGGC TCCTGGTTGT GTTGGGTGGT
5450 |
var(5404):[C:0.01]
TTCCCCATCT GTGCTTTGGG CCTCACGAGC CGCATGGTAT TGTGTGCAG
A
5500 | Exon 4
53
T
G
T
C
C
T
G
C
C
A
C
C
C
G
G
A
G
C
T
G
A
A
T
C
A
G
T
A
T
A
T
C
C
A
G
G
A
C
A
C
G
C
T
G
C
A
C
T
G
C
5550
M S C H P E L N Q Y I Q D T L H C 70
G
T
C
A
A
G
C
C
A
C
T
C
C
T
G
G
A
G
A
A
G
GTGAGGGTG CACTGGGCTC CCCAGCCATC
5600
V K P L L E K 77
TCAC
C
CCATG CTCACCCCC
G
TCCCTGTGTG CTCACAGTCC AACTCTGGGA
5650 |
var(5605):[T:0.01]
|
var(5620):[A:0.06]
TGGGGTGAAG CTAGGACTCT GTGGGGTCTT CATGGCTCCA ATACCCAGAA
5700
GCCTGTTCCC TGCACTCTGG AGACCATCCC AACCCAGGGG CAGGCCCCAA
5750
GGCATGCGGG CCATGTTCAG GGTGCCTTGG GCCTGGGAGC CC
G
G
G
TTGGA
5800 |
var(5793):[A:0.01]
|
var(5795):[A:0.03]
G
CTGGCT
C
TA AGTAGGGGCT GCCCCAGAGG GTTCGGGGTT CTTCTCACAT
5850 |
var(5801):[T:0.01]
|
var(5808):[T:0.03]
CCGTCCCCTG TTCTCCACGC TAAACGTTCT GTCTGAGCTG AGCCCCTCAG
5900
GGTTTCTTCC CCATCTAGTC CTGATCTCAG ACTTCCTGGG ACCTTCCCTA
5950
TGGGGCCCGG GCATTCTCTC AGCCTACACC ACTCATGCTG GAGGGTGCCG
6000
GCTTCTCAAA CTCGCTATCT GGCCTCTTGG GGACCCCCAG CCTAGCAGCT
6050
GAGCAGGGCT GTGAGTGGGC CGTTTCTCCT CCTTCCTTGG GCAAGGGGGT
6100
GGAGGCAGGG TGGTGTAGT
G
GGGGTGGGGT GCCTGGCTCT GCAGTGGGGG
6150 |
var(6120):[C:0.37]
TTCCTCTCTT TGCAG
A
A
T
G
A
T
G
T
G
G
A
G
A
A
A
G
T
G
G
T
G
G
T
G
G
T
G
A
T
T
T
T
G
G
A
6200 | Exon 5
N D V E K V V V V I L D 89
T
A
A
A
G
A
G
C
A
C
C
G
C
C
C
A
G
T
G
G
A
G
A
A
A
T
T
C
G
T
C
T
T
T
G
A
G
A
T
C
A
C
C
C
A
G
C
C
T
C
6250
K E H R P V E K F V F E I T Q P 105
C
A
C
T
G
C
T
G
T
C
C
A
T
C
A
G
GTGG GCTGCCCCTG CCCCTCGCCC ACTAGCTGGC
6300
P L L S I S 111
ATCAGGTGTG TCTCTGGCAA CACACCCACC CCTTTAAGGC GGCCCTTGAA
6350
TACCTTGGTA AAGGCCTGGG AGGAGAAAGG GCAAGAAGCA CCAGCATGAC
6400
AAGGGGACAG CCTGTGAGCA GCTGAGATG
G
G
T
C
C
A
G
A
G
A
G
A
T
G
A
C
A
T
G
A
G
6450 |
REPEAT
C
T
A
C
C
C
A
G
G
G
T
C
A
C
C
T
G
G
G
T
G
G
G
G
G
C
A
G
A
G
C
C
C
A
G
G
A
C
A
C
A
G
A
A
G
C
A
G
T
T
6500 |
var(6461):[C:0.04]
|
var(6475):[A:0.01]
T
T
C
T
G
A
C
T
C
C
C
CAGGCAAGT GTCCAGTCAA CTCGAAGTTG ACCTCTGGCA
6550
CATGCGTTAG TTGGTCAACT
G
CATGCTTCC AATGGT
G
A
G
G
T
C
A
G
G
G
C
A
C
T
6600 |
var(6571):[A:0.33]
|
REPEAT
G
G
A
A
T
C
T
G
G
C
A
C
C
A
A
C
C
T
G
T
C
C
C
C
A
C
G
G
C
C
T
G
T
G
T
G
G
C
C
T
T
A
G
G
C
A
A
G
C
C
6650 |
var(6639):[T:0.12]
C
T
T
T
C
C
C
C
T
C
C
T
G
G
C
T
T
G
G
T
G
T
C
C
T
G
G
T
T
C
T
G
G
G
T
C
C
T
G
G
C
T
G
C
A
C
A
T
T
A
6700 |
var(6658):[T:0.04]
|
REPEAT
A
A
A
C
C
A
C
C
T
A
G
G
G
A
G
G
C
C
T
C
C
T
C
A
G
G
C
T
G
C
C
C
C
T
A
C
C
T
C
C
C
C
T
G
T
C
C
C
C
T
6750
A
C
C
C
C
C
C
G
C
C
A
A
A
T
T
C
T
G
A
C
T
T
T
A
T
C
T
G
G
G
G
T
G
G
G
G
C
T
G
G
G
C
A
T
T
T
C
T
T
T
6800 |
var(6753):[A:0.04]
|
var(6761):[G:0.39]
T
A
A
A
C
T
C
C
C
T
T
G
C
T
G
G
T
T
T
A
A
T
T
G
T
G
TGGA CCGGATAGGG AGCTGGGTCC
6850
TAGGCATGCA GCACTCTCAC AGGCACTGGA GGGGGTCTTG TACCCCAGGT
6900
CTGCATCCAG GCTTGATGCC TGTGGTGGAG GGGAGGGCGC CAGTGTGATG
6950
GGAAGACCTC CTCTCACTCC CAG
C
T
C
A
G
A
C
T
C
G
C
T
G
T
T
G
T
C
T
C
A
T
G
T
G
G
A
7000 | Exon 6
S D S L L S H V E 120
G
C
A
G
C
T
G
C
T
C
C
G
G
G
C
C
T
T
C
A
T
C
C
T
G
A
A
G
A
T
C
A
G
C
G
T
G
T
G
C
G
A
T
G
C
C
G
T
C
C
7050 |
var(7040):[T:0.01]
Q L L R A F I L K I S V C D A V 136
T
G
G
A
C
C
A
C
A
A
C
C
C
C
C
C
A
G
GT GTGTCCACTC CCCACCCTCT CTTCCCTTGG
7100
L D H N P P 142
CATTTCCATG GTTATCTCGG GTTGGTCTGT GTTCCCAGGT CCATGTTTGG
7150
CTGTTCTGAG ACTCATCTCT TCCTAACCCT GAGAGTCCAC CTCCTCTGGG
7200
AAGCTTCCCT GATTGATTCT ACCTGGCTTC CATCTCCCTA TTGACTGGGG
7250
CTTTTCTTAG CACTTGCTTT GCCATCTGCT CTGGGGGTGC TGC
T
GAGCCA
7300 |
var(7294):[C:0.15]
GCAAGGGA
A
G TGGGAAGAGG CTGGGCCCA
G
TGGCTGGCAC CAGGGCGGTG
7350 |
var(7309):[G:0.04]
|
var(7330):[T:0.18]
GGGGAGCCTC CACCAACCTC TTGCCTCTCC AG
G
C
T
G
T
A
C
C
T
T
C
A
C
A
G
T
C
C
7400 | Exon 7
G C T F T V 148
T
G
G
T
G
C
A
C
A
C
G
A
G
A
G
A
A
G
C
C
G
C
C
A
C
T
C
G
C
A
A
C
A
T
G
G
A
G
A
A
G
A
T
C
C
A
G
G
T
C
7450
L V H T R E A A T R N M E K I Q V 165
A
T
C
A
A
G
GTGA GATGAGATGG GTCTGGGTCT GGGCGCAGGC TCTAGAAACG
7500
I K 167
TGATGTCGCA GTTCCAGG
C
G GGCAGGGGCA CTGCCTGTGG CCAGCCACCC
7550 |
var(7519):[T:0.14]
ATTACATTGG TGTGGCAGCG CCTGGCACCC AGCAGGTCCT CAGGCCTGTC
7600
CACTGCTCCA TCTGGGCACT TGGGGCAGTG AGGAGCCCAG GTGGAGCCAC
7650
CTACTGGGGC CCCCAGCTCA TCCTGGCTCT TCTGAAGTGG GGGCTCTCCA
7700
GGGAGGGGTC CTAGCCCACC AGGTTCAGCG TTGGTGCCTG GAG
C
CTGTTC
7750 |
var(7744):[T:0.03]
GTCACTTGGG TTCTATGGAC TTGGCCTCTG TGGGGGAT
G
G
G
G
G
G
G
G
T
C
C
T
7800 |
REPEAT
|
var(7794):[C:0.39]
G
G
G
G
T
C
T
G
C
A
T
C
A
C
C
A
A
C
A
G
C
T
T
C
C
T
A
G
T
G
A
T
T
C
T
G
A
G
G
C
T
C
A
G
G
T
T
G
G
A
7850
G
G
C
C
C
CTGGT CTGGAGTGGG AGGGACAGCA AAGTGAGGGC AGGCCAGGGC
7900
C
C
AGCCCC
G
T CACCCCCCTG ACCTT
T
GTCT CCTCCCTAG
G
A
T
T
T
C
C
C
C
T
G
7950 |
var(7902):[T:0.05]
|
var(7909):[A:0.18]
|
var(7926):[G:0.20]
| Exon 8
D F P W 171
G
A
T
C
C
T
G
G
C
G
G
A
T
G
A
G
C
A
G
G
A
T
G
T
C
C
A
C
A
T
G
C
A
T
G
A
C
C
C
C
C
G
G
C
T
G
A
T
A
C
8000
I L A D E Q D V H M H D P R L I 187
C
A
C
T
A
A
A
A
A
C
C
A
T
G
A
C
G
T
C
G
G
A
C
A
T
T
T
T
A
A
A
G
GTGAGCTT CGTGGGGACC
8050 |
var(8017):[A:0.01]
P L K T M T S D I L K 198
CGGGAAGCTT TATTTAGGGG CTGCTTAACG AAGTGAGGCC
C
GGTGCTGAG
8100 |
var(8091):[T:0.01]
GCCTTACTAG AGGGCTTGCG GGAGAGAACG GGGGAGTGCC TGGTGGAGGG
8150
CTCCTCCCAT CTCTACTCTT CTCCACCATG GCTATGGCCA CGAGGCCCCA
8200
CCTGTGGTGG AGGTCTGCCC ACCAGGGGCT TCTGTGTCCT CCAGCAGGGA
8250
TGCCCTGGCT GTCTTGCTGA CTGTGGCTGT TTGCTTGTGT CCGTCAG
A
T
G
8300 | Exon 9
M 199
C
A
G
C
T
T
T
A
C
G
T
G
G
A
A
G
A
G
C
G
C
G
C
T
C
A
T
A
A
A
G
G
C
A
G
C
T
G
A
G
G
G
G
G
C
A
C
C
T
G
8350 |
UTR
Q L Y V E E R A H K G S 211
C
C
A
C
C
C
C
A
C
T
G
A
T
G
C
C
C
A
A
A
C
T
G
T
C
A
G
A
C
T
T
T
G
G
G
G
G
A
T
C
C
C
C
G
C
C
T
A
G
G
8400
G
C
A
G
T
G
C
T
G
C
A
T
G
G
C
T
G
C
C
C
T
G
A
T
T
C
C
A
A
G
T
G
C
T
C
T
T
A
T
C
G
C
C
T
C
T
G
T
G
T
8450
G
T
G
G
A
T
C
G
C
C
C
G
C
C
C
C
A
G
C
C
C
G
G
G
G
C
C
G
C
T
C
A
G
G
T
C
T
G
C
T
T
G
G
A
G
G
A
T
G
C
8500
C
T
C
C
C
C
C
A
G
G
A
G
G
G
C
A
G
T
G
A
G
G
G
A
T
G
C
C
G
C
A
A
C
C
T
C
G
A
C
T
T
C
T
C
A
G
C
C
T
C
8550
C
T
G
G
G
G
T
T
C
C
G
C
C
G
G
C
C
A
A
C
A
C
T
G
T
C
T
G
T
C
T
C
A
A
A
T
A
C
T
G
T
G
C
T
G
T
G
A
G
T
8600
T
G
T
T
T
C
A
A
T
A
A
A
G
G
G
G
C
C
C
C
A
A
G
G
G
C
T
G
G
G
C
T
G
A
GCTGAG CCATCATTAA
8650
CTGGAGTGGG AGGGACAGGT ATGGCCAGGG TAACCTGGGA GAGGGGCTGC
8700
TTCTCCACCA AAATGCCAGG GACCCCCTCT CCCCACTCCT AAAACCAACC
8750
CCAGGCTGGT TTTACTGAAA ACATTTATTT
T
T
T
A
T
T
T
A
T
T
T
A
T
T
A
T
T
A
T
T
8800 |
REPEAT
A
T
T
A
T
T
T
T
A
T
G
A
G
C
C
A
G
A
G
T
C
T
C
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
G
T
8850
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
C
T
G
C
C
T
T
C
C
G
G
G
T
T
C
A
C
G
C
C
A
T
T
C
8900 |
var(8878):[C:0.48]
T
T
C
T
G
C
A
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
G
C
C
A
C
C
A
C
G
8950
C
C
C
G
G
C
T
A
A
T
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
G
T
G
T
T
G
G
9000
C
C
A
G
G
A
T
G
G
T
C
T
C
T
A
T
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
C
G
G
T
C
T
C
C
9050
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
A
G
T
G
C
C
C
G
G
C
C
TGAAAACAT
9100 |
var(9068):[C:0.01]
|
var(9087):[T:0.01]
TTATTA
C
AAC AAAACGTCAG A
G
CTATGTGA CAGTAAGTTA CCACAAGCTG
9150 |
var(9107):[T:0.01]
|
var(9122):[C:0.18]
GTAGGGTTGA ACCGGGGCAG GAGTC
G
CTGG TACAGGGACC TCACTGCCCA
9200 |
var(9176):[A:0.03]
CCCCATGCTC AGCTCCTGCC TGGAGGAACC TCTGGCTGAC CCAGACACAG
9250
GATGGACAGC TGTCAGAAAA TCTGGACAAC AGCTCGGTAG GGCGATTGGG
9300
CAGC
C
TCCTC CTGTCCATGC TTCTGCCCAG GCTGAGCCTC GGAGGAGGCC
9350 |
var(9305):[G:0.01]
TGGTTCCTGG TCATCTTGG
G
GCTGACGACA ATGCTGCTGT TGGTGACTCG
9400 |
var(9370):[T:0.01]
GGGCCCATAC CAGCCTGCCC AGTACTGGGT GTCCCTGCCC CCATGCTGGA
9450
AGAGGATGTA GCGGACACCC CGGGGGTAGT CTGAGAAGGT GTAGGAGACC
9500
TGTTGGGAGG AAGGGAGAGG AAGTGACCAC CGGGACGGGG GAGGGGAAGG
9550
CAGGAGCCAG GTCCTCTAAG AGAGCTGCCC AGGCTGGAAG GCAACAGCTC
9600
CAGGCCAGCA GGGGCACCCT GGGCCCTGAG GCTGCCCTTT GCTTCCTGCC
9650
ATCCTGGCCC TGGGAGGAGT GGGTAGAGAG AGCAAGTGGG TGAGGCCTCA
9700
CCTCTGTCCA TGTGGCATTG TTCCACTGTT GGATGGTCAC AGGT
G
GGGGC
9750 |
var(9745):[C:0.01]
TCGAAGGAGG CCAACACGAA GTAGTCAGCC GAGGCCAGCT GCACTTTGAG
9800
TTGGTAGGTG CAGCCACAGT CGGCTCTGGC AGCAAACCTG GTGGAGGGGT
9850
TGAGAGCCCT GTGTCCAAGC CACCGAGGGC TGGCCCCAGG GGTGGGGGCA
9900
GGTGGGACCT ATACATTGGA GCTCGGAGCT TCATCTCCCA TCAGCTGACA
9950
CTGCTCTGCC TGCAAGGCCC AGCTGGCTTC AGCGCTCCCT ATGCCCCACT
10000
GTGGCCCGGG GATAAGCTGT CTGTCCATGC TGGCCTCTGT TACCCCATCT
10050
GAGAAGAGGG ACCCTTTTGG GCATCCTACT AAAGATATGA CCTCA
A
AAAT
10100 |
var(10096):[G:0.35]
CAAAAGACCC CTCCAGAGAG GCCTGGTCTG TCCAAGCCAT GTCACCTGTA
10150
CTTACAATGG ACCAGGCTGT GGATTCAGTG GGAGAGTCAA GGGGGTGGCC
10200
TGTGTAATGG GGCTGGCACA AAGCTCACCC TCTGCTCA
G
C CCAGCCACCT
10250 |
var(10239):[A:0.19]
CTCCCCCCTG CAGCTCTGCA TACCCCTCCA TCCTCACCGC TTTATCCTCA
10300
GAGTGGCAGC CCTGGGGCCT GCCTAGAACT GGGGTCCTGC TTCTGCCACC
10350
GGCCAAG
C
C
A
G
A
G
C
C
T
G
G
C
A
C
A
G
T
T
C
T
G
T
G
C
A
C
A
G
A
G
T
A
G
G
A
G
C
T
C
C
A
A
A
10400 |
REPEAT
|
var(10388):[C:0.02]
A
A
G
A
G
T
C
A
T
G
G
G
A
T
G
A
A
T
AG GGAAAGGGGC AGGGGAG
G
CA GGTAGGTCAG
10450 |
var(10438):[A:0.01]
GGGACCTGGG GGTTCCCACC CAGTCCAGAG AGGGCT
G
AGG TCCTCTGTTG
10500 |
var(10487):[A:0.05]
CCCAAGTGCC TGTCAGT