CDC6 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
CAATTCTTAG GTGCCCATGT TATAAAAATA CGAACAGTGA AGGTTGCTTC
50
CTGAGTTCTA CTATCCTACT AAGACATCAG AAATACCATC TAGTCCTTTT
100
AAAAGCTTCC ACTGT
G
G
C
C
A
A
G
A
G
C
G
G
T
G
G
T
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
150 |
REPEAT
A
C
T
G
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
T
G
G
A
T
C
A
T
G
A
A
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
200
A
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
T
C
T
A
C
T
A
A
A
A
A
T
T
C
A
A
A
T
A
T
T
A
G
C
C
A
250
G
G
C
G
T
G
G
T
G
A
C
G
C
G
T
G
C
C
T
G
T
A
G
T
C
C
C
G
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
300
G
A
G
A
A
T
G
G
C
T
T
G
A
A
C
C
C
A
G
G
T
G
G
T
G
G
A
G
A
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
T
G
350
G
C
A
C
G
G
C
A
C
T
C
A
A
G
C
C
T
G
G
G
T
G
A
T
A
A
A
A
T
G
A
G
A
C
T
T
G
T
C
T
C
A
A
A
A
A
T
A
A
A
400
A
A
A
A
A
A
A
A
A
A
GCTTCCATTG TGTGGTAACT TTCTCCATTC ATGGCAGCCC
450
ATTCTCTTCA CTTTTGTAGT TTTCAGCTGC TAAAAAGCCT TCACGAAATG
500
TACTCCACCA TCTCTTCCTG TTTAGAACCT GAATCTGTCT AATCATCCCC
550
C
T
A
T
G
A
T
A
A
A
G
T
G
G
T
C
A
A
G
A
G
T
T
T
G
A
T
T
T
T
C
T
G
T
C
A
G
A
G
T
T
C
A
G
A
G
T
T
C
A
600 |
REPEAT
A
A
T
T
C
T
A
G
C
T
C
T
T
C
C
A
C
T
T
A
C
T
A
G
T
T
G
T
G
T
G
A
C
C
T
T
G
G
G
C
A
A
G
T
T
T
A
C
T
C
650
A
A
C
T
C
C
C
C
T
C
T
A
C
T
G
T
A
G
T
T
C
C
C
T
C
A
T
T
T
G
T
A
A
A
G
T
G
A
A
A
T
A
A
C
A
C
C
A
G
G
700
T
T
C
A
T
G
G
G
G
G
T
G
C
T
T
G
T
G
A
A
G
A
T
T
A
A
T
A
A
G
G
T
G
A
T
G
T
A
G
G
T
A
A
A
A
T
A
C
T
G
750
A
G
C
A
C
A
G
C
C
C
C
T
G
G
C
A
T
A
C
A
C
T
T
A
A
G
C
A
C
T
C
A
A
T
A
TTGGC TCTCTTCATG
800
AACTAGGTAC CAATTCACTG ATGATCGTAA TATTGTTGCT TCCCTCTTTC
850
TAGGCTTTAT GGCTCTATTT TGTTTGTTAC TGAGGGGTAA AAGATAAATG
900
TTTACCATCA CCTAGAATTG GGTTCTGGCC TCTAAAGGAA CCTGAGGCTT
950
AGATGAATTA TTGGCTTTGG AAGCTGGCCT TCAAATTACT GCGCTAATTT
1000
ATATTTTTCA TTAAAAACTC AGCTTGCCTC TTCTATATAG CTGTCTTCCC
1050
TGGCCCTGAA ACCCTAGTGT TTCGCCATAA AAGATTTTAA AATTAAGGGG
1100
TCATAATTCC CTCCCCATGA TGTGTGGATT AATGGTAAGA AGATGCACAG
1150
AACATAATAT TCTTAGGTTG AACGAAATAA AAGTAAAGAG TTGGCTCTGT
1200
TTCTCACCTT TGAAGCACAA ATCAAGAGA
T
ACTATGATGA AGCATAGTTT
1250 |
var(1230):[C:0.01]
TTCTTTATAT AGGTGTGTAG AACTTTACCA TAAAAATCAC TAGTTCAGCC
1300
A
T
C
A
G
G
A
G
A
T
C
T
G
G
A
T
C
C
T
A
G
G
C
T
C
T
T
C
A
C
T
G
T
C
A
C
C
A
A
G
A
T
G
C
T
G
T
G
A
C
1350 |
REPEAT
C
T
C
T
A
A
C
C
T
T
G
TATA
G
A
A
GT TTGCTTTGTA CTTTGCGAGG TTGAGCATTA
1400 |
var(1366):[C:0.01]
|
var(1368):[G:0.21]
GAGAGGTAAG GAAAGTGCCT AGCATCATAC CTGGCGCACA GAACCCAAAA
1450
CGGTAGGTAT CATGTAGCAG TTCTGAAAAT CTAGCCCATC AGGATGATGC
1500
AAATGGGTAC TTTAGGCAGT GAGAAGGGGA ACCACATCTT GACACTTCCA
1550
GTCGAAGGAA GAGTGCGACT GCGCGGCAGC AAAGACTACG CCTCCCAGCG
1600
TGCTTTGCGG CGGGCCGG
C
C CGCTTTACCC AGAGTCGCCC TGCCGCAATC
1650 |
var(1619):[T:0.01]
GCGCGTCTTT CCACCGAGGC CCCGGATGTA GATTCCCTCC CCCGTTCAGT
1700
GGTCGTGGCC TCACAGCGAC TCTAAGACTT GGGGCTCTCT CATTGGCTGT
1750
AACTCTTCCA CTGGATTGGT AGCAAAAAAA GAGGCGGTGC CCAAGGCGAA
1800
AGGCTCTGTG ACTACAGCCA ATCAGAATCG AGGCCGGGCT TTGGCGGGAG
1850
GTGGGAACGC TGTGGCCATT CGGATTTGGC GC
G
A
G
C
G
C
G
G
C
T
G
G
A
G
T
T
T
G
1900 | Exon 1 |
UTR
C
T
G
C
T
G
C
C
G
C
T
G
T
G
C
A
G
T
T
T
G
T
T
C
A
G
G
G
G
C
T
T
G
T
G
G
T
G
G
T
G
A
G
T
C
C
G
A
G
A
1950
G
G
C
T
G
C
G
T
G
T
G
A
G
A
G
A
C
G
T
G
A
G
A
A
G
G
A
T
C
C
T
G
C
A
C
T
G
A
G
G
A
G
G
T
G
G
A
A
A
G
2000
A
A
G
A
G
G
A
T
T
G
C
T
C
G
A
G
G
A
G
G
C
C
T
G
G
G
G
T
C
T
G
T
G
A
G
G
C
A
G
C
G
G
A
G
C
T
G
G
G
T
2050
G
A
A
G
G
C
T
G
C
G
G
G
T
T
C
C
G
G
C
G
A
G
G
C
C
T
G
A
G
G TGAAGTGAAG GGAAAAGAGC
2100
TGAGCTCGCT GGAGGTCTGA GGTCGGGATC AGGGAAAGGG CAGGTGCCCT
2150
CGGGGTAGTT CTAGCAGTTA TGCGTGGTGT GAAGGAGGTG AAAGTTGTAG
2200
GAAGGAAATA TTCTGGGGTG CGTTGAGAGC TGCCTAGAAT GAGGACTGAG
2250
TGCAGGGGCG GAAAGAACTG AGGGAAGACT GAGCTGCAGT GTGAGGGCTT
2300
GGGATAGAAG AGACTAAATG TGGCGGGTGC TGGGCTGAAC TGGTGATAAA
2350
GACACCCCGC GTGCCTGGAG GGAGGAAACT AGAAGTTCTA TATAAATCAA
2400
TTCATGTAAC
T
T
T
T
T
T
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
T
G
T
C
G
C
C
C
2450 |
REPEAT
|
NOT SCANNED
A
G
G
C
T
G
T
A
G
T
G
C
A
G
T
G
G
T
G
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
G
C
C
2500
G
G
G
T
T
C
A
A
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
T
T
C
A
T
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
2550
G
G
C
G
C
C
C
G
C
C
A
C
C
A
C
G
T
C
C
G
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
2600 |
REPEAT
T
C
T
C
G
C
T
C
G
G
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
2650
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
T
G
C
C
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
2700 |
var(2666):[T:0.01]
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
T
G
C
A
T
2750
T
T
T
T
A
G
T
A
G
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
G
G
T
C
T
C
G
G
C
C
C
G
2800
T
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
T
T
T
G
G
2850
C
C
G
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
T
C
A
G
2900 |
REPEAT
G
C
T
G
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
C
G
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
2950 |
var(2932):[G:0.01]
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
G
G
C
C
A
C
C
G
C
G
C
C
C
G
G
C
C
C ATTTCAGGTA
3000
ACTTGTTATT GCATCGCTCA AT
T
G
G
T
T
A
A
G
A
A
C
T
T
G
G
G
C
T
C
T
G
G
C
A
C
C
A
G
3050 |
REPEAT
A
T
G
C
C
C
G
G
G
G
T
T
A
C
A
T
T
C
C
T
G
T
T
T
T
T
C
T
G
T
G
A
C
T
T
T
G
G
G
C
C
A
C
T
G
T
T
T
A
T
3100
C
T
C
A
G
T
T
T
T
C
T
C
A
T
G
T
G
T
A
A
A
A
T
A
A
A
G
G
C
T
A
A
T
A
A
T
A
G
T
A
C
C
T
A
C
T
C
C
T
A
3150
A
G
A
T
C
G
T
T
G
T
T
A
A
A
C
G
A
G
T
T
G
G
T
A
C
C
T
A
A
A
G
T
G
T
T
T
A
T
A
A
C
A
G
C
G
C
C
C
T
T
3200 |
var(3182):[C:0.01]
C
C
A
C
G
T
A
G
T
A
G
G
T
A
G
A
C
A
A
C
A
A
A
T
G
T
C
A
G
C
T
G
T
T
C
T
T
GCA TAGATTTGGA
3250
TGTGAAGCAA AAGTGAATGC TAAAATAAGT GTGATAACAT AATTAGGAAA
3300
TAAGTGTTAA TCATCAGTAT AAATAAATTC CATGTTAGTT ATT
T
TCTCTT
3350 |
var(3344):[G:0.01]
CACTTTCACA TATTGACTAG TTGTCCTCTT ATTTTTTTTA ATCTAG
C
T
G
T
3400 | Exon 2 |
UTR
G
C
T
G
T
C
G
T
C
A
T
G
C
C
T
C
A
A
A
C
C
C
G
A
T
C
C
C
A
G
G
C
A
C
A
G
G
C
T
A
C
A
A
T
C
A
G
T
T
T
3450
M P Q T R S Q A Q A T I S F 14
T
C
C
A
A
A
A
A
G
G
A
A
G
C
T
G
T
C
T
C
G
G
G
C
A
T
T
G
A
A
C
A
A
A
G
C
T
A
A
A
A
A
C
T
C
C
A
G
T
G
3500
P K R K L S R A L N K A K N S S 30
A
T
G
C
C
A
A
A
C
T
A
G
A
A
C
C
A
A
C
A
A
A
T
G
T
C
C
A
A
A
C
C
G
T
A
A
C
C
T
G
T
T
C
T
C
C
T
C
G
T
3550
D A K L E P T N V Q T V T C S P R 47
G
T
A
A
A
A
G
C
C
C
T
G
C
C
T
C
T
C
A
G
C
C
C
C
A
G
G
A
A
A
C
G
T
C
T
G
G
GTA AACCATCCAT
3600
V K A L P L S P R K R L 59
TATATCACTT TTTCACTAGC AGCTCGTGAC CTTTCTTTTC TTGGTAAGAT
3650
GTGTGTCCTT TGAAGGAGCT TT
C
TAAGTTC AGTTAAGAC
T
T
C
T
T
T
T
T
T
T
T
3700 |
var(3673):[G:0.03]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
C
A
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
T
3750 |
NOT SCANNED
G
C
A
A
T
A
G
T
G
C
G
A
T
C
T
T
G
G
C
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
3800
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
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
C
A
C
C
A
3850
C
C
A
A
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
G
A
T
T
T
T
T
A
G
T
T
G
A
G
A
3900
C
A
G
G
G
T
T
T
T
G
C
C
A
T
A
T
T
G
G
C
C
A
A
T
C
T
G
G
T
C
T
C
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
3950
T
G
A
T
C
C
A
A
C
T
G
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
T
A
G
G
C
A
T
G
A
G
C
T
4000
A
C
C
G
C
T
C
C
T
G
G
C
C
TAAGACT ACTCTTCATT TTAGTTATTT TCAGAATGGT
4050
TGCTAAGTGC TTACCGAACT CCAGAGTTAG ACACTTACTG AGGTCACTCT
4100
GAACTACTTA ATAAGTCTGA TCTTCAATTC CTTAATACTG AACTTAGTTC
4150
TGTCAATGTT TTAAGTTACC TTGTAGTTAC ATGGTATTAT GAAACTTACC
4200
TCAATATTTG TGAAATTAAA AGAAACAAAA ACGTGACATG ATGAATATTT
4250
TCCATCCTTT AGGACAGTGA TTGGTAATTC TTTCTTGTTT TGGAACATTT
4300
A
TTTTTAAAT GG
G
G
G
G
T
A
A
T
T
T
G
G
T
T
G
T
T
T
C
T
G
G
A
G
A
C
A
T
T
T
T
T
G
G
T
T
G
T
4350 |
var(4301):[G:0.22]
|
REPEAT
T
A
C
A
G
C
T
G
G
G
G
G
T
T
G
C
T
A
C
T
G
G
C
A
T
A
G
T
G
G
G
T
A
G
A
G
G
C
C
A
G
G
G
A
T
G
C
T
G
C
4400
T
A
G
A
C
A
T
T
A
C
A
A
T
G
C
A
C
A
G
G
A
C
A
G
C
T
C
C
T
T
G
A
C
A
A
T
G
A
A
G
A
A
T
T
A
T
T
T
G
G
4450 |
var(4439):[C:0.01]
T
C
C
A
A
G
A
T
G
T
C
A
G
T
G
G
T
G
C
C
A
A
G
G
T
T
G
A
G
A
A
A
A
C
C
T
G
TTT CAAAATAGCC
4500
TTACAATTTC ATCCTACTAA AACCCATTTG GTTTCTACTA AATG
C
A
G
T
A
G
4550 |
REPEAT
T
C
C
C
C
A
C
T
T
A
T
C
C
A
T
G
G
G
G
G
A
T
A
C
A
T
T
C
C
A
A
G
A
C
C
C
C
C
A
G
T
G
G
A
C
G
C
C
T
G
4600
C
A
A
T
C
G
A
G
G
A
C
A
G
T
A
C
C
A
A
A
C
C
C
T
A
C
A
T
A
T
A
C
T
G
T
G
T
T
T
T
T
G
A
T
T
T
G
A
T
A
4650 |
var(4605):[T:0.01]
|
REPEAT
A
C
C
A
A
G
T
C
A
G
C
T
A
C
T
A
A
G
T
G
A
C
T
A
G
T
G
G
G
T
G
G
A
T
A
G
C
A
T
A
T
A
C
A
G
T
G
T
G
G
4700
A
T
A
T
G
C
T
G
G
C
T
G
A
A
G
G
G
A
T
G
A
T
T
C
A
T
G
T
C
T
T
G
G
G
T
A
G
G
A
T
G
G
T
G
C
G
G
G
A
T
4750
T
T
C
A
T
C
A
T
G
G
C
A
C
T
C
C
A
C
A
G
C
A
T
G
C
A
A
T
T
T
A
A
A
A
C
T
T
G
T
C
A
A
T
T
G
T
T
T
A
T
4800
T
T
C
T
G
G
A
A
T
T
T
T
C
C
A
T
T
T
A
G
T
A
T
T
T
T
C
A
G
A
C
T
G
A
G
G
G
T
A
A
C
T
A
G
A
A
C
G
G
T
4850
G
G
A
TGAAGGG ACTACTGTAG TAAGATCAGT GGTGCCATCT GGTGACCAAT
4900
ATTTGCTGCT AAGTGAGAAG GCATTTTATT TTGGTGGTTC TGACTAAGGT
4950
AGAAATTCAC CTCTTTCTGG AAGAGGCAGA GGTCTTGCAC ATCCTTTTAC
5000
TATCCAATGC TATGAGTGAC TACATTTTTA TTTTATTGTG TTTCAG
G
C
G
A
5050 | Exon 3
G D 61
T
G
A
C
A
A
C
C
T
A
T
G
C
A
A
C
A
C
T
C
C
C
C
A
T
T
T
A
C
C
T
C
C
T
T
G
T
T
C
T
C
C
A
C
C
A
A
A
G
C
5100
D N L C N T P H L P P C S P P K 77
A
A
G
G
C
A
A
G
A
A
A
G
A
G
A
A
T
G
G
T
C
C
C
C
C
T
C
A
C
T
C
A
C
A
T
A
C
A
C
T
T
A
A
G
G
G
A
C
G
A
5150
Q G K K E N G P P H S H T L K G R 94
A
G
A
T
T
G
G
T
A
T
T
T
G
A
C
A
A
T
C
A
G
C
T
G
A
C
A
A
T
T
A
A
G
T
C
T
C
C
T
A
G
C
A
A
A
A
G
A
G
A
5200
R L V F D N Q L T I K S P S K R E 111
A
C
T
A
G
C
C
A
A
A
G
T
T
C
A
C
C
A
A
A
A
C
A
A
A
A
T
A
C
T
T
T
C
T
T
C
A
G
T
T
A
G
A
A
A
A
A
G
T
C
5250
L A K V H Q N K I L S S V R K S 127
A
A
G
A
G
A
T
C
A
C
A
A
C
A
A
A
T
T
C
T
G
A
G
C
A
G
A
G
A
T
G
T
C
C
A
C
T
G
A
A
G
A
A
A
G
A
A
T
C
T
5300
Q E I T T N S E Q R C P L K K E S 144
G
C
A
T
G
T
G
T
G
A
G
A
C
T
A
T
T
C
A
A
G
C
A
A
G
A
A
G
GT TTGTTCTTAC ATGGCAACTG
5350 |
var(5306):[C:0.09]
A C V R L F K Q E 153
TTAGTGCAGC CATTGTAACC AAGGCTGATG ACTCCAAATG AAACCACCCA
5400
CTGGGTCTTC TCATTCACCT TCTGTTGTGT CTAATTGACC TTTTATGTCT
5450
GGCACAG
G
C
A
C
T
T
G
C
T
A
C
C
A
G
C
A
A
G
C
A
A
A
G
C
T
G
G
T
C
C
T
G
A
A
C
A
C
A
G
C
T
G
T
5500 | Exon 4
G T C Y Q Q A K L V L N T A V 168
C
C
C
A
G
A
T
C
G
G
C
T
G
C
C
T
G
C
C
A
G
G
G
A
A
A
G
G
G
A
G
A
T
G
G
A
T
G
T
C
A
T
C
A
G
G
A
A
T
T
5550
P D R L P A R E R E M D V I R N 184
T
C
T
T
G
A
G
G
G
A
A
C
A
C
A
T
C
T
G
T
G
G
G
A
A
A
A
A
A
G
C
T
G
G
A
A
G
C
C
T
T
T
A
C
C
T
T
T
C
T
5600
F L R E H I C G K K A G S L Y L S 201
G
G
T
G
C
T
C
C
T
G
G
A
A
C
T
G
G
A
A
A
A
A
C
T
G
C
C
T
G
C
T
T
A
A
G
C
C
G
G
A
T
T
C
T
G
C
A
A
G
A
5650
G A P G T G K T A C L S R I L Q D 218
C
C
T
C
A
A
G
GTA CATTGAGAGT CTGAATTATG ATACTCTTGG TAAAATGATA
5700
L K 220
CTTGGGTG
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
G
T
T
T
T
5750 |
REPEAT
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
T
A
G
G
C
T
G
T
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
5800 |
var(5753):[-:0.92]
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
C
C
C
A
G
G
T
T
C
A
C
G
C
C
A
T
T
C
T
C
C
T
G
C
C
5850
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
T
G
C
C
C
A
G
C
T
5900
A
A
T
G
T
T
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
G
T
C
A
C
T
G
T
G
T
T
A
G
C
C
A
G
G
5950
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
C
A
C
C
T
C
A
T
G
G
T
C
C
G
C
C
C
T
T
G
T
T
G
G
C
C
T
C
C
C
A
A
A
G
6000
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
C
TG
T
T
T
T
G
T
T
T
T
T
G
A
6050 |
REPEAT
A
A
C
A
G
G
G
T
C
T
C
T
G
T
T
G
T
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
T
T
G
T
G
A
T
C
T
C
A
G
C
T
C
6100
A
C
T
G
C
A
G
C
C
T
T
G
A
C
C
T
C
T
T
G
G
G
C
T
C
A
G
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
6150 |
var(6121):[T:0.01]
|
var(6144):[A:0.01]
T
G
G
A
T
A
G
C
T
G
G
G
A
A
T
A
C
T
G
G
C
A
C
T
C
A
C
C
A
C
T
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
G
6200
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
C
C
A
G
A
C
T
T
G
T
C
C
T
G
A
A
C
T
C
C
T
G
A
G
C
6250
T
C
A
A
G
T
A
A
T
C
T
G
C
C
T
G
C
T
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
T
G
T
6300 |
var(6290):[G:0.01]
A
A
G
C
C
A
C
T
G
T
G
C
C
T
G
G
C
T
GG CACTTAGTTA AGAAAGAG
G
G
C
T
A
G
G
C
A
C
G
G
6350 |
REPEAT
|
var(6342):[C:0.01]
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
G
G
C
T
G
A
G
G
T
G
G
G
T
G
G
A
T
C
6400
A
C
C
T
A
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
C
C
C
T
G
G
T
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
6450
T
C
T
C
T
A
C
T
A
A
T
A
A
T
A
C
A
A
A
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
G
G
T
G
C
C
6500
T
A
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
T
C
A
C
T
T
G
A
A
C
T
C
G
6550
G
G
A
A
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
C
G
C
T
A
C
T
G
T
A
C
T
C
C
A
G
C
C
T
G
6600
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
G
A
A
A
A
A
G
A
A
G
G
C
T
G
G
G
C
A
T
G
G
T
6650 |
NOT SCANNED
|
REPEAT
G
G
C
T
C
A
C
G
C
C
T
A
T
A
A
T
C
C
C
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
6700
T
G
A
G
G
T
T
A
G
G
A
G
A
T
T
G
A
G
A
C
C
A
T
C
C
T
G
A
C
T
A
A
C
A
C
A
G
T
G
A
A
A
C
C
C
C
G
T
C
T
6750
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
C
G
A
G
T
G
C
C
T
G
T
A
6800
G
T
T
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
A
C
A
G
G
6850
T
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
A
T
G
G
G
C
G
A
6900
C
A
G
A
G
C
A
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
GAGTTAAGAA AGAGTA
G
G
C
C
6950 |
REPEAT
T
G
G
T
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
T
C
C
A
A
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
7000
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
T
G
T
G
G
C
G
7050
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
T
A
A
A
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
T
G
C
A
7100 |
var(7078):[G:0.01]
T
C
C
T
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
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
C
A
A
7150
C
C
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
A
T
G
A
G
T
T
G
A
G
A
T
T
G
T
G
G
C
A
T
T
G
C
A
T
T
T
C
A
G
7200 |
NOT SCANNED
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
G
A
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
A
7250
G
A
A
A
A
G
A
A
A
G
A
G
T
A
G
A
A
G
T
T
T
A
G
A
A
G
A
T
T
G
A
G
G
G
T
TTCTT CAAAATAAAA
7300
CATTTGTAAT TTCATTGTTT AAATCTTTCC AAATGAAAGT AGAGCTTCCT
7350
TACGTGCTGT TAGCTCTTCA AAGACATTTT AGGCTCTATC AGATCTTTAT
7400
TTTCTGAGGC CAAAATAACT CCCATATTTG CATTTTTTTT TCCAG
A
A
G
G
A
7450 | Exon 5
K E 222
A
C
T
G
A
A
A
G
G
C
T
T
T
A
A
A
A
C
T
A
T
C
A
T
G
C
T
G
A
A
T
T
G
C
A
T
G
T
C
C
T
T
G
A
G
G
A
C
T
G
7500 |
var(7497):[G:0.01]
L K G F K T I M L N C M S L R T 238
C
C
C
A
G
G
C
T
G
T
A
T
T
C
C
C
A
G
C
T
A
T
T
G
C
T
C
A
G
G
A
G
A
T
T
T
G
T
C
A
G
G
A
A
G
A
G
G
T
A
7550
A Q A V F P A I A Q E I C Q E E V 255
T
C
C
A
G
G
C
C
A
G
C
T
G
G
G
A
A
G
G
A
C
A
T
G
A
T
G
A
G
G
A
A
A
T
T
G
G
A
A
A
A
A
C
A
T
A
T
G
A
C
7600
S R P A G K D M M R K L E K H M T 272
T
G
C
A
G
A
G
A
A
G
G
G
C
C
C
C
A
T
G
A
T
GTAAGTATT GTTCTG
C
TTC ATGTTGCTCT
7650 |
var(7637):[T:0.01]
A E K G P M I 279
GTGAAAATCT GCAAGGTCTG TTGCCCATAA AAAGTACATT TTGTATATTT
7700
TCTCTCTGAA GGATAGTTAC ATAAACTTAA AGGGAAAGAA GAGAAGGAAG
7750
ATACACCTAA TTTTAAATTG GATTACTTAT AGATGATGTG GGGTATCCTT
7800
GTAGCAGTAA CTAGAGATAG GTTAGATTAT GATCTTTAAA CTGGTCTCAG
7850
CTTTAGGAAA GTGACCTGAA GTCAGCCTAT ATCAAACATT AGAGGGTTAA
7900
GAAGGTGAAT ATGGATACTA ACTGTTTCTC TTTTTATAG
T
G
T
G
T
T
G
G
T
A
T
7950 | Exon 6
V L V 282
T
G
G
A
C
G
A
G
A
T
G
G
A
T
C
A
A
C
T
G
G
A
C
A
G
C
A
A
A
G
G
C
C
A
G
G
A
T
G
T
A
T
T
G
T
A
C
A
C
G
8000 |
var(7986):[A:0.01]
|
var(7999):[T:0.01]
L D E M D Q L D S K G Q D V L Y T 299
C
T
A
T
T
T
G
A
A
T
G
G
C
C
A
T
G
G
C
T
A
A
G
C
A
A
T
T
C
T
C
A
C
T
T
G
G
T
G
C
T
G
A
T
T
G
GTTA
8050
L F E W P W L S N S H L V L I 314
GTGCTCAATT GTTAATGTTA CATGGTGGTT CTAAAGTATT TTTTAAGAAT
8100
ATATATTCAG CTTATTTATC AGCTATTTTA TCTTAAACCA GCTTTCTGCC
8150
GTGTCAAAAT AAGAAAGTTA AATGACTATG TACATCTTAC CTAATAGATA
8200
CATCTTATCT ATTGGGATGG GGTAGGAGAC AAGTGGCAAG CAACAATTAG
8250
AATGCTAGAT TCTATAACTG GAGATTTATT TAGCTTTCAG AAGATTTAGT
8300
TTTCCCTTTA GGATAATTTG ACCAATGATC AATGTTGTTG ATCTCCTCCT
8350
TAG
G
T
A
T
T
G
C
T
A
A
T
A
C
C
C
T
G
G
A
T
C
T
C
A
C
A
G
A
T
A
G
A
A
T
T
C
T
A
C
C
T
A
G
G
C
T
T
8400 | Exon 7
G I A N T L D L T D R I L P R L 330
C
A
A
G
C
T
A
G
A
G
A
A
A
A
A
T
G
T
A
A
G
C
C
A
C
A
G
C
T
G
T
T
G
A
A
C
T
T
C
C
C
A
C
C
T
T
A
T
A
C
8450
Q A R E K C K P Q L L N F P P Y T 347
C
A
G
A
A
A
T
C
A
G
A
T
A
G
T
C
A
C
T
A
T
T
T
T
G
C
A
A
G
A
T
C
G
A
C
T
T
A
A
T
C
A
G
GTCAGTG
8500
R N Q I V T I L Q D R L N Q 361
CCAACTATTT TGCCAAATTA TGTGT
T
CCTT GGATCACCTG TGCTAGGAAA
8550 |
var(8526):[A:0.02]
ATTTAACAAT AGTTCTAAAA TATTTTTGCC TTGATTGCTT TATTAATGGA
8600
GCAAGGAGTT CCTATGGACC ATAGTGAGAA CATTTTTATG TGAATTTCAG
8650
CTTCATTCAT TTACTGGGTG TCTCAGTGTT GAAATAAAAG CAGGAGTTAG
8700
AGGAATCACC CAAGCGC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
G
A
T
G
A
G
T
T
T
T
G
C
T
C
T
T
8750 |
REPEAT
A
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
T
G
A
T
C
T
C
G
G
C
T
C
T
C
T
A
C
A
G
C
C
T
C
T
8800
G
C
C
T
C
A
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
T
A
G
C
T
A
G
G
8850
A
C
T
A
C
A
G
G
C
A
C
C
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
G
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
8900
G
C
T
G
G
G
G
T
T
T
C
A
C
C
G
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
A
A
C
C
T
C
A
G
8950
G
T
G
A
T
A
T
G
C
C
T
G
T
C
T
C
G
G
C
C
T
C
T
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
G
C
9000
C
A
T
C
G
C
A
C
C
C
A
G
C
C
TCAAGT GCTTTCTTTA ATGACCTTTA AAAAATAGGG
9050
CCTATGAAAA AACTTTTTCT GTTGAAAATG ACTAAATAGA TTTTTTATTT
9100
TTGCTAATTT CAGTTCTGAT TGCTTTTTTC CATTTATGAA CTTCTACTGC
9150
ATCCGTACAA AAAGCTTAAA TGTGTGAAAA CTCTCAAA
C
G TCTCCATTAT
9200 |
var(9189):[T:0.01]
TTATGAGAAG AAAAGGCATC TTTTTAACCC TAAAGAGTTG CCAATCAAGT
9250
TTAGGGTTAA ATGTGAAAAT ATTTATGCTT GGGACCTAAA TTACAGAGGG
9300
AGAATCTTAT GGTTCAAACT GTCATCTTCT ATGTCTTGTC TGAAG
G
T
A
T
C
9350 | Exon 8
V S 363
T
A
G
A
G
A
T
C
A
G
G
T
T
C
T
G
G
A
C
A
A
T
G
C
T
G
C
A
G
T
T
C
A
A
T
T
C
T
G
T
G
C
C
C
G
C
A
A
A
G
9400 |
var(9395):[A:0.01]
R D Q V L D N A A V Q F C A R K 379
T
C
T
C
T
G
C
T
G
T
T
T
C
A
G
G
A
G
A
T
G
T
T
C
G
C
A
A
A
G
C
A
C
T
G
G
A
T
G
T
T
T
G
C
A
G
GTGA
9450
V S A V S G D V R K A L D V C R 395
GTTACGGCTC TGTTGCATTC TTTTATTAAA AAAAAAAAAA AAGAAATGCT
9500
GTTAATTGTC TCATGTAACT CAAGTGAATG TGGCTTAAGA GGCTCTGTTC
9550
TGCTACTTTT TTACGCTCAG AAAGGAGGAC TTGTTTCTCA GTGGGGAGCT
9600
CTGGATTTCC ACCGTGTTAA TGTCTGAAAC ATTATCAGTC CATTACCTAC
9650
AGAGGGAGAA ACAAATGAGA TGTTGCTGGC ACTCCCTGTG GTGATTATAG
9700
ATTGGTTAAT TACATTTGTA TTAAAAAAGA CTCCAGTTTA CTTTTCCATT
9750
AGCTGGTCTC AAGCAGGTTT ATTTATGGAC CTGAACCGTC TTTGCCTTTA
9800
GACTTGTTCC CCTTCCTTTC CTTTTGTGAG CACCCCTTCT TCCCTTCAGT
9850
TGGTGGTCCC CCACAGTTGT ACTCCAGACC TCTTTCTCCC TTCCCATCCT
9900
CCTGCCCCTC CTGCTGGGGA AAGCCTCTGT GCCGACTGAT GAAATTTCTT
9950
CCTTCCCA
G
T AGGGACACTG GG
T
CCATTAA AATGATACTT GCTGTGCTGG
10000 |
var(9959):[A:0.01]
|
var(9973):[C:0.01]
CCTGCTGGTC CAACCTCCCC CTATTGC
T
AT GCAGAAGACC CAGGTCTGGC
10050 |
var(10028):[C:0.01]
TTATGGCTTC CTGTGGGCAA GTACTTTGGA GAGAGCAGTG GGAGAGTAAG
10100
CTCTTCCTAT TGCTAGATTG CATGATCCTG AATTTGAAAG TTTCCCCTAA
10150
TCAGCAAACT ACTTGGGTAA AGACTGCAAC TATGAGCAAT AGTCATGTAG
10200
GCTAGCGTGG TTTAGCCTAC ACATATCCTA TGTATATATA ACTGAAGATA
10250
TCCCTTTTAG GTTTGGTGTG TATGGGTGAT GCTGACTCCC TTTAGTCAGT
10300
CACCCACACT ACATATCCTC TCTCCTACCC ATGACATTTT CTCCTCATCC
10350
AAAATGTTAT CATTGGCTTA ATGTATGATG ACCTACTTGG CATCCATTAG
10400
GAGGAAACCA TTGAAGTTTC TCAAATCTGA TGTCCATGAA TTATTTCAAA
10450
GCAATTAAGT CCCCTTATCT GAGAAATAAC CCAGTTTTGT TTGGGGGCTT
10500
TAAAATTATA AAACATCATA ATTTTAAAGT TACACGTAGG ATATGTGTAG
10550
GCTAAACCAT GTTAGCCTAC ATGACCATTG TTCATAGTTG CAGTCTTTGA
10600
GCAATGGTCA TTAATGTGCC GCTTTTGAGG CTGGTGGTTT GGTGTGTTTG
10650
GTTTGGCTCA GACTAAATTA ATTTTAGAAA TTTTTTTTAT AG
G
A
G
A
G
C
T
A
10700 | Exon 9
R A 397
T
T
G
A
A
A
T
T
G
T
A
G
A
G
T
C
A
G
A
T
G
T
C
A
A
A
A
G
C
C
A
G
A
C
T
A
T
T
C
T
C
A
A
A
C
C
A
C
T
G
10750
I E I V E S D V K S Q T I L K P L 414
T
C
T
G
A
A
T
GTA AGTAGTTTAT CTCCTTCCTG TCTTCCTTTG TAACTAGAAG
10800
S E 416
CTTAGCTTTT CTGAGGAAAG AGGTAGAAAG ATGAAATGAA CATAGTTAAA
10850
TCCAAACT
C
A CCCATTTTTA TGTGTGTCTG TGTTTTTAGT CCGTTTCGTC
10900 |
var(10859):[T:0.01]
TACTTTATTT CAATCTTGCC TGCCAGTACT ATAGTTCGTG CATTACTGGA
10950
AATGAGTTCC CAGGGTATTG ATTGCGTAAA TGGCTGGGAC AGAGTAAGTT
11000
TTTTTTCCAA GCTCTGGAAA TGAAACTTGT AGACAATGAG GTTGGATCAG
11050
CTCTCTGGGT GCTTATGTTG C
G
TGCACTTT AGGTCTCAAT ATAGGTGAAA
11100 |
var(11072):[A:0.02]
GCAAAGCCTG ATAAATAAGG GAGAATTGGG TAAAAGAATT GTGA
A
G
C
C
A
G
11150 |
REPEAT
G
T
G
C
G
G
T
G
G
T
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
C
A
A
G
G
C
G
G
G
11200
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
C
A
G
G
A
T
T
G
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
T
A
T
A
G
T
G
A
G
11250 |
var(11208):[T:0.01]
A
C
C
T
T
G
T
T
T
C
T
A
C
A
A
A
A
A
A
T
T
T
T
A
A
A
A
A
T
T
T
T
G
C
A
G
C
C
A
T
T
A
A
A
A
A
T
A
T
G
11300 |
REPEAT
A
G
T
T
C
A
T
A
T
C
C
T
T
T
T
T
A
G
G
G
A
C
A
T
G
G
A
T
T
A
A
G
C
T
G
G
A
A
A
C
C
A
T
C
A
T
T
C
T
C
11350
A
G
C
A
A
A
G
T
A
A
C
A
C
A
G
G
A
A
C
A
G
A
A
A
A
C
C
A
A
A
C
A
C
C
A
C
A
T
G
T
T
C
T
C
A
C
T
C
A
T
11400
A
A
G
T
G
G
G
A
G
T
T
G
A
A
C
A
A
T
G
A
G
A
A
C
A
C
A
T
G
G
A
C
A
C
A
G
G
G
A
G
G
G
G
A
A
C
A
T
C
A
11450 |
var(11417):[G:0.01]
C
A
C
A
C
C
G
G
A
G
G
C
T
G
T
T
G
G
G
G
G
T
G
G
A
G
G
C
C
A
A
A
G
G
G
A
G
G
G
A
G
A
G
C
A
T
G
C
A
G
11500
G
A
C
T
T
A
A
A
A
C
C
T
A
G
A
T
G
A
C
A
G
G
T
T
G
A
T
G
A
G
T
G
C
A
G
C
A
A
G
C
C
A
C
C
A
T
G
G
C
A
11550
C
A
T
G
T
A
T
A
C
C
T
A
T
G
T
A
A
C
A
A
A
C
C
T
G
C
A
T
G
T
T
C
T
G
C
A
C
A
T
G
T
A
T
C
C
C
A
G
A
A
11600
C
T
T
A
A
A
A
A
A
A
A
T
T
A
G
G
C
A
A
G
C
A
T
G
G
T
G
T
G
T
G
C
C
T
G
T
A
G
T
C
C
T
A
G
C
T
A
C
T
T
11650 |
REPEAT
G
G
C
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
G
C
T
G
G
A
G
A
G
G
C
A
G
A
A
G
T
T
G
C
A
G
11700
T
G
A
G
C
C
G
A
G
A
T
G
G
T
G
C
C
A
C
T
G
C
A
C
T
G
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
G
A
G
A
C
11750
C
C
T
G
T
C
C
C
A
A
A
A
G
A
A
T
A
A
T
A
A
T
A
A
G
A
A
G
A
A
TTATAAGTTC AACTTGGGAT
11800
ATCTCAAGCT TTTAAACAAG TCTAGAGGGT AGAGGTAAAA AGATCATACT
11850
GCTACAGTAA GCTGCATGGT ATCACAAATG ACAAAATTAA TATTCCATTC
11900
CCTCAGCCTT GTTTTGGTTG TGGCAAATGT AAAATGGCCA TGAACTACGT
11950
ATCTTACAGT ATTTGATATC CAGTGTTAGT CTTTATAAAC AGAATAGTAA
12000
GATTTGATTG TTTCTTTTTC ACTCCTACAC TGGCTGGGAG TTTAAGTAAA
12050
ATTGTTTCTG GCATTATAGT TCTGCATGAA ATTCTTTCTT TTTTTCATCA
12100
ATTTGCTAAA ATAAAATAAT TAAAAATGTT TCAGAAGTAG CCAAAAATAG
12150
TGCTTAGGCT AATAGTAGGC AATATATACC AATGTATAGA CTTAGATACT
12200
GGTTTCTTCC TCCTTTTCAA CTTTTCAGAT TATCCCCTTT TCCTCCTCCT
12250
TTTTCCCCAT CAGTAACATT TAGGCTTGTC ACTGGCCCCT GTGAGCACCA
12300
CTAACACAAA CATAATTCAA AAAGGTAAAG AGGTTGTAAG TTCTATCTTT
12350
TGACTTCTGG TTTGTGCGGG ATTGGC
T
T
T
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
C
12400 |
REPEAT
T
T
T
T
T
G
T
G
T
A
A
A
A
C
A
A
G
G
T
C
T
T
G
C
T
T
T
G
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
T
C
C
A
G
T
G
12450
G
T
G
C
A
A
T
T
A
T
G
G
C
T
G
G
T
G
C
G
A
T
C
A
T
G
G
C
T
C
A
C
T
G
C
A
G
C
T
G
C
A
A
C
C
T
C
C
C
A
12500
G
G
C
C
C
A
A
G
C
A
G
T
C
C
T
C
T
C
A
C
C
T
C
A
G
C
C
T
C
C
C
C
A
G
C
T
C
C
A
G
C
T
A
C
T
G
C
T
A
A
12550
T
T
T
T
A
A
A
A
T
T
T
T
T
G
T
A
G
A
G
T
C
A
G
T
G
G
G
T
G
G
A
G
G
A
G
T
C
T
C
C
T
T
A
T
G
T
T
G
C
C
12600
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
G
A
T
A
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
12650
C
C
A
C
A
G
C
T
T
T
G
G
A
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
T
A
C
C
A
G
G
TTGAGATTGG
12700
CTTTCAAGGG CTCCA
G
A
A
A
G
C
T
A
T
A
G
G
G
A
G
A
A
T
G
A
C
T
T
T
A
A
C
T
A
A
A
T
A
T
A
12750 |
REPEAT
A
G
A
A
G
A
A
A
A
T
T
T
A
T
A
A
T
A
A
C
T
A
G
A
A
C
T
A
A
C
T
G
G
G
C
T
T
C
C
T
T
G
A
A
A
C
A
T
A
G
12800
T
G
G
G
T
T
C
T
C
C
A
G
C
A
T
T
G
A
A
G
A
T
A
T
T
C
A
G
A
C
A
A
A
A
G
C
T
G
G
A
T
A
G
A
T
G
C
C
A
C
12850
T
T
G
T
T
G
A
G
A
T
T
G
T
T
C
T
A
G
A
G
A
G
G
A
C
T
C
G
G
C
C
A
G
T
G
G
A
T
A
G
G
G
A
G
T
A
A
A
A
A
12900 |
var(12878):[C:0.01]
|
var(12894):[T:0.01]
T
A
G
A
C
T
T
C
T
A
A
A
T
T
C
C
T
T
T
C
A
A
T
T
T
T
A
A
G
A
T
T
C
T
T
T
T
A
C
T
T
G
A
T
C
TGTGA
12950
TCTCCGGTTT CTCCATTAGT CCTCTGCAGC ATCCCTTTGT GGTAATGTAA
13000
TATTATAGAA GTAAATTGTT GTGGGGCAAC TGCAAGTGAT TTCAGGAAGT
13050
AACTTCAGGT AAAGGTTGTT ACAGAACACA TTT
C
T
T
TGTC TTGGAATTCA
13100 |
var(13084):[-:0.09]
TGCATCT
C
C
A
A
A
C
G
A
T
A
A
G
G
C
C
A
T
A
G
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
13150 |
REPEAT
|
REPEAT
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
13200
G
A
T
C
T
T
G
G
C
T
C
A
A
T
G
C
A
A
C
C
T
C
C
T
C
C
T
C
C
C
A
G
G
C
T
C
A
A
G
C
C
A
T
C
C
T
C
C
C
A
13250
C
C
C
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
G
C
A
C
A
C
A
C
C
A
C
C
A
C
A
C
C
C
G
G
13300
C
T
G
T
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
C
G
A
T
G
G
G
G
G
A
A
A
C
C
C
A
T
C
G
C
C
T
T
G
T
T
13350
G
C
A
C
A
G
G
C
T
G
G
T
C
A
T
G
A
A
T
T
C
C
T
G
A
G
C
T
C
A
A
G
C
C
A
T
T
A
G
T
T
A
T
T
T
T
T
C
C
T
13400 |
REPEAT
G
A
T
C
C
T
C
T
C
C
C
T
C
C
A
C
C
C
T
C
C
T
A
T
A
G
G
C
C
C
C
A
G
T
G
T
G
T
G
T
T
G
T
C
C
C
C
A
C
T
13450 |
var(13418):[A:0.01]
A
T
G
T
G
T
C
T
A
T
G
T
G
T
T
C
T
C
A
T
C
A
T
T
T
A
G
C
T
C
C
C
A
C
T
T
A
G
A
A
G
T
G
A
G
A
A
C
A
T
13500
G
T
G
G
T
A
T
T
T
G
G
T
T
T
T
C
T
G
T
T
C
C
T
A
C
A
G
T
A
G
T
T
T
G
C
T
A
A
G
G
A
T
A
T
A
G
T
C
T
T
13550
ATGAAGCTTA TTGGCAGTTT CCCAACCCCT GGCTTTTATT AAGATGATGA
13600
TATCT
G
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
T
T
A
C
G
C
C
C
A
T
A
A
T
C
C
C
A
G
T
G
C
T
T
T
G
G
G
A
G
13650 |
REPEAT
G
C
C
G
A
G
G
A
G
G
G
C
A
G
A
T
T
G
C
T
T
T
G
A
G
C
T
A
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
13700
C
A
A
C
A
T
G
A
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
C
A
A
A
A
A GAAAAAAAAA
13750
AAAAAAAAGA TGGTGCTATC TGCTAGCATA TCCAATGACA TTTTCTCAAG
13800
TGTTGCTCTA CTGCTAATCA GCTTGGGCAA GTGANACCAA ACCTCAAAGG
13850
TCATTTGGGG AAGCCATCTG AAGGGCTGAC ATGGCAGCGA CTTCACTCTC
13900
CACATTTAGC CACTCATTTG ATCCAAAATA TTCGGTAATT TTCCAAC
T
T
T
13950 |
REPEAT
T
T
T
T
T
C
C
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
A
T
A
T
G
G
A
G
T
T
T
C
A
C
T
C
T
T
G
T
C
G
T
C
C
A
G
G
14000
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
14050
T
C
A
A
G
T
G
A
T
T
C
T
T
C
T
G
C
C
T
C
A
A
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
C
G
C
14100
C
T
G
C
C
A
C
C
A
C
A
T
C
C
A
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
T
G
G
A
G
T
T
T
14150
C
G
C
C
G
T
G
T
T
G
G
G
C
A
G
G
C
T
G
G
T
C
T
C
C
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
14200
C
G
C
C
T
T
G
A
T
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
G
C
A
C
C
T
14250
G
G
C
C
TTTTTT TTCCTTTCTT AATTACCAAG CACAGTCACC ATCTTTGCTT
14300
CAAGGTTCTG TTATTCTATA CCTCTGAGAT ACTAGG
A
A
C
T
A
G
C
C
T
G
G
C
A
T
14350 |
REPEAT
G
G
T
G
G
C
A
C
G
T
A
C
C
T
G
T
A
A
T
C
C
T
A
G
C
T
A
C
A
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
14400
T
C
A
C
T
T
G
A
A
C
C
C
A
G
G
A
A
G
C
C
A
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
A
T
A
G
T
G
C
C
A
C
T
14450
G
T
A
C
T
C
C
A
G
C
C
T
G
A
G
T
G
A
C
A
G
A
G
A
T
C
C
T
G
T
C
C
C
A
A
A
A
A
A
A
A
A
TACAGTAG
14500
TTCTCTGGTC CTTTCATGAG GTGGGTTTTG TTCCTCTGAC ATTAAATTAC
14550
ATTCCATAGG ACAAAACAGC TCACTATTTG GCCCAGAGAA AGGGTAACCC
14600
TACTTTTCAA GTCATCCCAC ATTATTTTGA CATCCTTAAG AGAATAGCAT
14650
TATCTCTCAT CCTTTGGCCT CTGGTTAGAG ATTTAAAACC TCTGCTTTGC
14700
CAC
C
ATGTGA CTATACTTGA ATTTCCTTTA GCTCAAACTT AGTATCATCT
14750 |
var(14704):[T:0.01]
GTCTCATCAT ACATACACAC ACACAGTATT TTAGAAATCG AATTAAGCTT
14800
GGCTTATTTA CTTTATAG
G
T
A
A
A
T
C
A
C
C
T
T
C
T
G
A
G
C
C
T
C
T
G
A
T
T
C
C
C
A
A
G
14850 | Exon 10
C K S P S E P L I P K 427
A
G
G
G
T
T
G
G
T
C
T
T
A
T
T
C
A
C
A
T
A
T
C
C
C
A
A
G
T
C
A
T
C
T
C
A
G
A
A
G
T
T
G
A
T
G
G
T
A
A
14900 |
var(14890):[A:0.20]
R V G L I H I S Q V I S E V D G N 444
C
A
G
G
A
T
G
A
C
C
T
T
G
A
G
C
C
A
A
G
A
A
G
G
A
G
C
A
C
A
A
G
A
T
T
C
C
T
T
C
C
C
T
C
T
T
C
A
G
C
14950
R M T L S Q E G A Q D S F P L Q 460
A
G
A
A
G
A
T
C
T
T
G
G
T
T
T
G
C
T
C
T
T
T
G
A
T
G
C
T
C
T
T
G
A
T
C
A
G
G
C
A
G
T
T
G
A
A
A
A
T
C
15000
Q K I L V C S L M L L I R Q L K I 477
A
A
A
G
A
G
G
T
C
A
C
T
C
T
G
G
G
G
A
A
G
GTAAGTTGG GATGGAGCAG ATGGAACGGA
15050
K E V T L G K 484
GGTAGAGATC AGAATCTGCT TTGCAGAGCA G
G
TATTTTCC AAAAGGCCTA
15100 |
var(15082):[T:0.01]
TGATACTTCA GCTGATAATA AATTTAAAAT GGATTTTAAC AGTAAGAATT
15150
AATACTGGTA CTATATAAAA GGCACCTATT TCCCTTGGAT TGTGGTTGAG
15200
AGTTTATCAT TAATCCTTTC CCTATCCTCC CCTTCATTTC TGCATCTCTC
15250
TAGGAAATAT ATAAAGCCCC TTTCCTACAT TACTGT
A
TAG GTTTTCGGGA
15300 |
var(15287):[G:0.01]
ATATCTACAG AAGCCTGTTC AAAGATTTTA TTGAAAAGAG GAAGAAATAG
15350
GGTATTCAGA TAAGTTTTTG CAAACCCAGA CTCAGGTTTC TTAAATGATT
15400
AAAGGCTATA AGCAATGTGA CTTTTAAGCA GCGTTTGTTC TCCCTTGTTT
15450
CCTACCAG
T
T
A
T
A
T
G
A
A
G
C
C
T
A
C
A
G
T
A
A
A
G
T
C
T
G
T
C
G
C
A
A
A
C
A
G
C
A
G
G
T
G
15500 | Exon 11
L Y E A Y S K V C R K Q Q V 498
G
C
G
G
C
T
G
T
G
G
A
C
C
A
G
T
C
A
G
A
G
T
G
T
T
T
G
T
C
A
C
T
T
T
C
A
G
G
G
C
T
C
T
T
G
G
A
A
G
C
15550 |
var(15518):[G:0.01]
A A V D Q S E C L S L S G L L E A 515
C
A
G
G
G
G
C
A
T
T
T
T
A
G
G
A
T
T
A
A
A
G
A
G
A
A
A
C
A
A
G
G
A
A
A
C
C
C
G
T
T
T
G
A
C
A
A
A
G
G
15600
R G I L G L K R N K E T R L T K 531
TACAACTGCT TTTTTGTGAC AGTGTTTTTA ATTGTCCTAT TTTGTAGAGT
15650
GATGCTAAAG TAAAGGTTTA TTGTTAAACA AGATGACCAC AGTTAGTTAA
15700
ACAAGTCGTT TTTTGTTAGG TAAGGTTTAA GGTGTGTAAA GATGGGAGTG
15750
TGATATGAAT ATTTTTTCAA GCCATTGGAA AAAAAAGTGT TTAACTTGCT
15800
TGCCTTTTGT GAGAAAAAGT TTAATATGGT AGAAGTTTGT ATACTGACAA
15850
CTTTGCTTTT GTGAGTTCCC CAGTGTGAAA AATCCTTTTC TCTTCTTTCC
15900
AG
G
T
G
T
T
T
T
T
C
A
A
G
A
T
T
G
A
A
G
A
G
A
A
A
G
A
A
A
T
A
G
A
A
C
A
T
G
C
T
C
T
G
A
A
A
G
A
T
15950 | Exon 12
V F F K I E E K E I E H A L K D 547
A
A
A
G
C
T
T
T
A
A
T
T
G
G
A
A
A
T
A
T
C
T
T
A
G
C
T
A
C
T
G
G
A
T
T
G
C
C
T
T
A
A
A
T
T
C
T
T
C
T
16000 |
UTR
K A L I G N I L A T G L P 560
C
T
T
A
C
A
C
C
C
C
A
C
C
C
G
A
A
A
G
T
A
T
T
C
A
G
C
T
G
G
C
A
T
T
T
A
G
A
G
A
G
C
T
A
C
A
G
T
C
T
16050
T
C
A
T
T
T
T
A
G
T
G
C
T
T
T
A
C
A
C
A
T
T
C
G
G
G
C
C
T
G
A
A
A
A
C
A
A
A
T
A
T
G
A
C
C
T
T
T
T
T
16100
T
A
C
T
T
G
A
A
G
C
C
A
A
T
G
A
A
T
T
T
T
A
A
T
C
T
A
T
A
G
A
T
T
C
T
T
T
A
A
T
A
T
T
A
G
C
A
C
A
G
16150
A
A
T
A
A
T
A
T
C
T
T
T
G
G
G
T
C
T
T
A
C
T
A
T
T
T
T
T
A
C
C
C
A
T
A
A
A
A
G
T
G
A
C
C
A
G
G
T
A
G
16200
A
C
C
C
T
T
T
T
T
A
A
T
T
A
C
A
T
T
C
A
C
T
A
C
T
T
C
T
A
C
C
A
C
T
T
G
T
G
T
A
T
C
T
C
T
A
G
C
C
A
16250
A
T
G
T
G
C
T
T
G
C
A
A
G
T
G
T
A
C
A
G
A
T
C
T
G
T
G
T
A
G
A
G
G
A
A
T
G
T
G
T
G
T
A
T
A
T
T
T
A
C
16300
C
T
C
T
T
C
G
T
T
T
G
C
T
C
A
A
A
C
A
T
G
A
G
T
G
G
G
T
A
T
T
T
T
T
T
T
G
T
T
T
G
T
T
T
T
T
T
T
T
G
16350 |
var(16323):[A:0.01]
|
REPEAT
T
T
G
T
T
G
T
T
G
T
T
T
T
T
G
A
G
G
C
G
C
G
T
C
T
C
A
C
C
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
16400
A
A
T
G
G
C
G
C
G
T
T
C
T
C
T
G
C
T
C
A
C
T
A
C
A
G
C
A
C
C
C
G
C
T
T
C
C
C
A
G
G
T
T
G
A
A
G
T
G
A
16450
T
T
C
T
C
T
T
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
T
G
C
C
C
A
C
C
A
C
C
16500
G
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
A
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
T
A
C
C
A
T
G
T
T
16550
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
C
T
C
A
A
G
T
G
A
T
C
T
G
C
C
C
A
C
C
T
T
G
G
16600
C
C
T
C
C
C
T
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
T
G
C
T
C
A
G
C
C
A
T
T
A
16650 |
var(16645):[A:0.01]
A
G
G
T
A
T
T
T
T
G
T
T
A
A
G
A
A
C
T
T
T
A
A
G
T
T
T
A
G
G
G
T
A
A
G
A
A
G
A
A
T
G
A
A
A
A
T
G
A
T
16700
C
C
A
G
A
A
A
A
A
T
G
C
A
A
G
C
A
A
G
T
C
C
A
C
A
T
G
G
A
G
A
T
T
T
G
G
A
G
G
A
C
A
C
T
G
G
T
T
A
A
16750 |
var(16739):[A:0.01]
A
G
AATTTATT TCTTTGTATA GTATACTATG TTCATGGTGC AGATACTACA
16800
ACATTGTGGC ATTTTAGACT CGTTGAGTTT CTTGGGCACT CCCAAGGGCG
16850
TTGGGGTCAT AAGGAGACTA TAACTCTACA GATTGTGAAT ATATTTATTT
16900
TCAAGTTGCA TTCTTTGTCT TTTTAAGCAA TCAGATTTCA AGAGAGCTCA
16950
AGCTTTCAGA AGTCAATGTG AAAATTCCTT CCTAGGCTGT CCCACAGTCT
17000
TTGCTGCCCT TAGATGAAGC CACTTGTTTC AAGATGACTA CTTTGGGGTT
17050
GGGTTTTCAT CTAAACACAT TTTTCCAGTC TTATTAGATA AATTAGTCCA
17100
TATGGTTGGT TAATCAAGAG CCTTCTGGGT TTGGTTTGGT GGCATTAAAT
17150
GGCAATTTGT GACTGAGACA CCAGAGGGCA CCCTTATAAC ATTGACTACT
17200
TTGAAAGGGG ATGCTTGAGG CTGAGGTAGT TTTGAGGGAA AGGGGGAAGT
17250
TCTAGTTTGA TTTGTTTGGG AGATTGCTGT CCTTTCATAA CTGAAGCAAA
17300
TGCTTGAAAT GTAAACCATG TGTGATACGA ATGATCTGAG AGCCAGTGAC
17350
CAAGTCTGCT TTTCCCTGAG CTCTCCTGCT GCCGCCTCTA CCTTTCTGAC
17400
ATGGCCTTCC ATTTGGAACT TGATATGTGT ACAAGTGATC TGTTGGCCAC
17450
TGTTTCATTC ATCCTGACCA CTGTATCCGT GTAATGTGAT CTGAGCTACA
17500
ACAGGTGGTA TGGGATAGAG GCAAGGAAAG CAGAGAGAGC CCTCTGAAAT
17550
GAACACTACC CACTGGTGTG TGTAGCACAT GATAGTCTGT AGGCATGAGT
17600
CTGAATGTTG TTCTCACACT CCTTTACTAG AGTATTCGTT CCCTCTGAAG
17650
GTAGTTTGAA CATGGAAACA CAGTTCTATA CCTAGAAGGT TGGAAAGTGT
17700
CTGGGACTAT AAGGGTTAAC ATGCATAATT GCAAAGATTG TCCGAAGGCT
17750
GATGGAAAGC AGAGACTGAA TGGGATTGAG AACAGATGCG AAGCTTGATT
17800
TAAATTACAT TTTATTGGAT GCTGCAGCCT TAAGAGACGT GACTGCTTTA
17850
CAGTTTGTTT CCACACTGTG GGCAGCTGCT GTCTGTTCTG TGTCCACAGT
17900
AGGATCCTGC CCAATAAGGA GCAGCCTCCC CACCTCATTG TGTTTGAGGC
17950
TTGGCGCCTT CCTCTTAACT GTAGGGCTTG A