DMC1 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
TTTGCCATGT TCTATATTGT GGATAGGAAA GTACCATTTT GCCATGCAGG
50
ATATATTTTT TTAAATATAA GCATACTTAA CAATCTTTCA TGGCTTCTGA
100
GTTTTGTAGC ATACTTAAAA AGATGTTTCT TATTACAAAG TAATTTTAAA
150
TAT
C
C
C
A
T
A
T
T
T
T
C
T
T
C
T
A
G
T
A
C
T
T
T
T
A
T
T
A
T
T
T
T
A
T
T
G
T
T
C
A
G
A
T
T
T
A
A
200 |
REPEAT
T
T
T
T
T
T
G
A
T
C
T
G
T
C
T
G
G
A
A
T
T
T
A
T
T
T
T
G
G
T
A
T
A
A
T
G
T
G
T
A
A
A
G
T
G
T
G
G
T
T
250
C
C
A
A
T
T
T
T
A
T
T
T
T
T
C
T
T
C
C
A
G
A
T
G
G
T
T
A
C
C
T
A
G
T
T
G
T
T
C
T
A
A
C
A
C
T
A
T
T
C
300
A
C
T
G
A
A
T
T
C
A
T
C
A
T
T
T
C
T
C
C
A
C
T
G
ATGTGA AATGCCACCT TCATGATATT
350
CAGAGTTTTT GTATGATACG AAAGACAATT TTTTTGGTTC CGATTTTAGT
400
GGAAAGTCTT CATGTGCACT TTTTAACTGT CCTAGAGTTT GTTGTTGTTT
450
TAAATATCTT AAAAGTTGTC TCTAACCATC GATATGATAC CCAGATAAGA
500
TTTTTCTCCT CCCTTCATGA ATTTGTCATT ACCCAGCTCA TTTTAGTTTT
550
TTTAAGTGTA CTGCACACAA CCTTCAAATA TTATGAACAT TTCTCTCTCC
600
CAGCTGTCAC TACACCAAAC TACATATGTT ATATTTCCCT AAATCATCTT
650
GCTGTGCTCT TTGCAGCTCT TCTGTAGACT GTTGATGTCT TCACCTAACG
700
AGTTGCTCAA AAGTTCCCAT AATTATTTAG GTGAGGCCTC AGAGCGAAAG
750
CCTTTCACCA CTATCCAGTT CCTCCCCCAA ATGGGCATTC ATCTCCATAT
800
AACAAGGACG ACTGTGTTTG GGGGAAAATA ACAGATTTGG AAGCACAATG
850
GCAGTTATTT GTTGGCTCTT AAAACAATCC ACCTGTTGGG
G
GGGTGCGTC
900 |
var(891):[A:0.01]
CTACACAAAA TGCCAACTGC TATTGTGGGA ATGTTTTGCT ATTTATTCCA
950
CCAAAATGAT TCAGACAGAA AAAACAAAAA GGATCGCCCT GTACTAGGTC
1000
TTGAACCCAA AGAACTGTTT GCACAGAGAT TCATCCAAGA TACATCACAG
1050
CCTCCACCTC GGCAGCTGCT CTCTCAAATG TTTCCTGACT CTCCCCAAGT
1100
CAGTCTCCGC GTGAGGGGAG GAGGAGGATG CTGCCAGCGA TGGCGCTGCT
1150
GGCACGAAGG CTGGCCTGCG ACTTCTATTT AAAAGCTGAA CCAAAATATA
1200
CTTGGCGTCT GTGGTCTATT TAAAACTTCA AGTTAAGACA GAGAAAAAAT
1250
TACTCTCCAT CCTGAATGGG CCTCGGGTGT CTCAATCACA GACAAGAGTG
1300
GCAAATGGTG AGAGTCAGAA AGTGGGAAAT TAGGAACGCT GAGGGAGCAC
1350
GGCCAAACTC TGAAGCCAGC ATGAAAACCT GGAGGTGAAA AGAGAAGCCA
1400
TGGGCAGCGG GGGCGGGGGG AAACGGGCCC GGATTCGACC TTCTAAGCCA
1450
AGGCTCCATC TGCAACCCTC GCGACCAAGA CCTATCGCCA AAGTCAGCCA
1500
CCTCTGCTCA TCGCCCCTCC CCCGACTCAA GGCTACCTCC TCAGAACCCC
1550
GCCTCAGGGT CTTCTCCCGG ACTTTAGCGA GGTGCTCAGC TCGAGGGACG
1600
CCCCAGCTCA ACGGTCTCCC TTCAAGGCCC CGCTCCTCAG CGCGCTCC
T
T
1650 |
var(1649):[C:0.42]
CCACAGCGCC CCTCCCTCCC TCCCTCC
C
T
C
C
GTCATCCCA GCTCGCCACC
1700 |
var(1678):[:0.99]
CGCTGGGGCT CCTCTTCGTT TTCCGCCCCT CAGCCCTCGC CCCGCCCCCT
1750
CGCCCTGAGC CCCCTCCAGG CCACGCCCTC TGGTCCCCCC ACCTGTGAGC
1800
CCGCTCGTTC CCCGCCCTTC GGTCTTCGCC CCGCCCCCAT TGCTCCCCGC
1850
CCCTCGTCGC CCTCTGTAGG CCTGCTCCCT CCCCGCCCTT CCACCCTCAC
1900
CCTGCGCCCC GCCCCGGCCC CTTGGTCCTC GCCCCGCCCT CCTCGTTTGG
1950
C
G
C
C
A
A
A
C
C
C
T
G
T
G
G
T
C
A
A
C
G
G
C
G
C
G
C
G
G
G
T
C
T
C
C
A
G
G
C
T
C
C
G
T
G
T
T
C
T
A
2000 | Exon 1 |
UTR
G
G
C
C
C
G
A
G
T
T
A
G
A
A
T
C
C
T
G
T
C
A
G
C
T
G
A
G
G
A
G
G
T
C
G
G
G
C
G
G
G
G
C
A
G
A
G
G
G
G
2050
C
T
T
C
A
C
C
T
T
G
A
A
A
A
T
C
T
C
G
G
G
G
A
G
A
C
T
G
T
G
G
G
T
A
C
G
A
G
G
G
G
G
GTAAGTGG
2100
CAAAAACGAA CAGCGTGCGA AGACTCTGAG GGGACGCTCG TTTTGAGAAG
2150
GCGCGCTTCC CTTTCTCGCT CCTTTTTTGG GGTCCCTGGG CTAGTGACTT
2200
TGAGCGTTCC GCTCCGACCT TTGGGGAGGA ATTTTAGTGA T
C
TTGAGGGA
2250 |
var(2242):[G:0.01]
TTTCCAACCT CATTTTCAAT CGAATCGGAC CTGAGTCTAG GAGAGCCCGC
2300
CTCATCCTCC TGACCAGGGA ATCCGGTGTC AGGAAAATGT CCGGCGGCCG
2350
CAGGGGGTCT GCCCAGGCCT CCTGCTGAGG GAGGCGTCGA GGGCGACCCG
2400
ACCGCGCTGC TGCCCCCACC AGAGGGGACA GCTGGGTCGT CTTAAACCGG
2450
GGGATTGGGG AGCCCTACTT TCAATCCAAC GGTTCAGTCT ATCAACGGCT
2500
CCTTGAGAGA TGGGGGACAA TCTTTTCATT TCATCACGGG GAGAAGAAAT
2550
GAATGCTGTT TTTCTCTTCG ATGGGGACAG TAAATGTGGA ATTGGGGTAC
2600
TCATAGCTAG CCATCTGAAG GACAGTGTCC CCGAAGATCC CATCCGAACG
2650
GTCTCGGTTG CCTTCCATCC TTTGCCGTTT GAGGTGCTGG GTGGTAGGAC
2700
CCTGCTCCTG CCTTAGTATT AATGGTTCGT TCCCTTTGTT CTAGGGTCCA
2750
ACCCCTGACT TTGGTATCAA ATGAGGAAAT GGAATCGACC AAGAAAAATG
2800
ATGATTTGG
G
ACCGCATTTT ATTGTAATAA ATAAACACAA TCACGCCTTG
2850 |
var(2810):[:0.98]
TGGATTCCTG AGATTTCTTT TTGAGTCTAC AATGTTAAAA ACTTTAACTG
2900
CTTATCAGCC TTAATATAAT ATTATGATCC ACCAA
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
2950 |
REPEAT
T
T
G
A
G
A
C
T
G
A
G
T
C
T
C
G
C
A
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
3000
C
T
C
G
G
C
T
C
A
G
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
C
G
A
T
T
C
T
C
C
T
G
C
C
T
3050 |
var(3013):[A:0.01]
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
G
T
G
G
G
A
T
T
A
C
G
G
G
C
G
C
C
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
3100
A
T
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
A
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
3150 |
var(3125):[G:0.01]
|
var(3148):[A:0.02]
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
T
G
T
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
3200
C
A
G
G
C
A
T
G
A
G
C
C
G
C
C
A
C
A
C
C
C
G
G
ACCACCA TAT
T
TTTAAA TCTTAAAAAA
3250 |
var(3213):[T:0.48]
|
var(3234):[A:0.01]
ATCATGAAAC TAG
T
AAATAC TGTGAAAGAA AGTATAGCTA ATGTTCTATG
3300 |
var(3264):[C:0.05]
AAACAAAAAG GTGGATGTTA CAGGAGTACC CATTCATAAT CAGCAGGCAG
3350
GAAGGCATTC ATCATAGATG AGAAAAATA
G
AATCCATTTA TTGAGGACAA
3400 |
var(3380):[T:0.01]
AGTTGGAGGT GTCAGGGAGG ACACAAGGAA GAATGATATA ATGTCAAGGT
3450
TCCTAGAGTA TTGTTGTTAA ACATAAACAA GAAAGGTTAA AAGCAATATG
3500
CAATTCTAAA TAACATTCAA GGCAGTAATA AAGTCATGAT TAGCTGTGCA
3550
ATGGAAACCA GATGATAAGT GATCACTGTT GGGGAAAGAG AAGAAACTAA
3600
ATAAGCACCC CCCAATTTGC CCCTCAGGCA TCTGTGTGCA TGTGGGGACA
3650
CACACACACA
T
G
CACACACA CACACACACA
C
A
C
A
AGAAAT AATGTCACAT
3700 |
var(3661):[C:0.01]
|
var(3662):[A:0.01]
|
var(3681):[T:0.01]
|
var(3683):[:0.04]
GTCTCGCAGA AAGAAGATAG GCTGGCCTCA TCTTTCCAAG CTAAATGCTT
3750
CTCTTACTGT CCTTCTAGTC CTTGTTGACT TTGAAATGAA ATCAGAGGCC
3800
CCTGGACAAA GGACTACTTC TTACATAATA TTTCTTATTT TCCCAG
A
A
G
T
3850 | Exon 2 |
UTR
G
A
T
T
A
T
T
T
T
T
C
T
G
T
T
G
C
C
C
A
C
T
T
T
T
C
A
A
T
A
T
G
A
A
G
G
A
G
G
A
T
C
A
A
G
T
T
G
T
G
3900
M K E D Q V V 7
G
C
G
G
A
A
G
A
A
C
C
A
G
G
A
T
T
C
C
A
A
G
A
T
G
A
A
G
A
G
GTATGACTAA AATGTTGAAA
3950
A E E P G F Q D E E 17
GATATATAGA CATTCGATCA TTCCGCAAAA ATCAAGTTCC TTCCCTGTTA
4000
GCTACTATTT TTAGAAGCTG AAAGTAGAAA TAACACATAG TTATATATTG
4050
CAAATAT
G
TA ACAACTTGTT TGGCAAGGAT GCTAAGATTA GCTACTTAGC
4100 |
var(4058):[A:0.03]
AACTGGTATG AAAGTATTTT AATGACTTAA CAGCTGGTAT GGCCATACTG
4150
GTACCTACAC ACACGGGTAC CGAATAGCAG CCTGGTCCTA GAGGAAGGAG
4200
TTTAGGATCT GGAGGGGAAG AGGGTTGAGA AAACATATTT AAAATAGTTC
4250
AAATGTTGTT CCAGTCCTTT GGGTAAAGGT TTTAAAATTT TAGGGAGGAC
4300
ATGACAAAGG TAACTGGCTT CCCAGCCCTT TCAATGTTGG TGCTTCTTCT
4350
GT
G
TTTGAAA AACGGTATTG ATCCTTCCTC AATCTCTAGA GAAGCGGAAT
4400 |
var(4353):[T:0.03]
TTGAGGCATT TTGGAGTGAC TCATAGTATT GAATTACCTC TTTAAAAGAT
4450
GTGAAATAGC TGGATATGAA GAATCAAAAC TTCATTTTTT CTGTTTCATC
4500
TCCTTTAG
G
A
A
T
C
T
T
T
G
T
T
T
C
A
A
G
A
T
A
T
T
G
A
C
C
T
G
T
T
A
C
A
G
A
A
A
C
A
T
G
G
A
4550 | Exon 3
E S L F Q D I D L L Q K H G 31
A
T
T
GTAAGTA GTTTTTCAAT GCTGTGTTAA ATTGTCTGAT T
C
A
G
G
A
T
T
T
C
4600 |
REPEAT
I 32
T
C
A
G
C
A
T
C
A
A
C
C
T
T
A
T
G
G
A
C
A
T
T
T
G
G
G
C
C
T
G
G
A
T
A
A
T
T
C
T
T
T
G
T
T
G
C
A
A
G
4650
G
G
G
A
C
G
T
C
C
T
G
T
G
C
A
T
T
G
T
A
G
G
G
T
G
T
T
T
G
C
A
A
C
A
T
C
C
T
T
G
G
C
C
T
C
T
A
C
T
C
4700
A
C
T
C
A
C
T
G
C
A
T
G
T
C
A
G
T
A
G
C
A
C
C
C
C
T
G
C
A
G
C
T
G
T
G
A
C
A
A
T
C
A
A
A
A
T
G
T
C
T
4750
C
C
A
G
A
C
A
T
T
G
T
C
A
A
G
T
G
T
A
T
C
C
A
G
A
G
G
A
C
A
A
A
A
T
TAAGTT CTATATGTCA
4800
GGCGACTGGA ATAAATGATG TTGGCAGAAA TCCAGCCTTT GAATAATGAC
4850
CTGGGTGGAT TTCAACAGCA ATCAGTTGAT AGTAAAACTG TGCTGACATT
4900
ATCTGTTGTA GCCCTAACAT TTAATCTCTT TCAGTGGTTT TAGAAAATAG
4950
AAG
C
AAGAGA AAATCCTGGT CCTTTGGTGA TGTAGTTATT TGCATTCTCC
5000 |
var(4954):[A:0.02]
AGGGGCAGAG GAAAAAAAAA ATCTTTACAA ATTTAAAAGA ACATGTTGGT
5050
AATGAAGTTC TGTAGAAGGA AGGAGCTGAA CTGAGGGGGT GAATGTGTGA
5100
TAAATTTGTT AGCTTTTCCA CCAACAGGCT TTTCTTTTGA ATTCCTTGTT
5150
ACATTGCCAT GGTCTCACTA ACATTCTTGG GAAATCAGGG CACAGTCAGA
5200
ACATTTGGCA GCCTGCTGAG TATGTTCTAC TCAGATATTT CCAGAACATT
5250
TGGCTACATG GTGGGTGGGT TCCACCTGGC AGCTTGTATA AAATTGGCAT
5300
CATGGTGGAA GGAGATGGAC ACAGAAACAC ATGACATAGT ATGGGAGCCT
5350
TGCAGGCTGG CATCTTATCA GTCTGCTGTG CCCATTCTTT AATTTACAG
A
5400 | Exon 4
32
A
C
G
T
G
G
C
T
G
A
C
A
T
T
A
A
G
A
A
A
C
T
G
A
A
A
T
C
A
G
T
A
G
G
A
A
T
C
T
G
T
A
C
C
A
T
C
A
A
A
5450
N V A D I K K L K S V G I C T I K 49
G
G
T
A
T
A
C
A
G
A
T
G
A
C
A
A
C
A
A
G
A
A
G
A
G
C
T
C
T
A
T
G
C
A
A
T
G
T
C
A
A
A
G
G
A
C
T
C
T
C
5500
G I Q M T T R R A L C N V K G L S 66
A
G
A
A
G
C
C
A
A
A
G
T
A
G
A
C
A
A
G
A
T
T
A
A
A
G
A
G
G
C
A
G
C
G
A
A
C
A
A
A
C
T
A
A
T
T
GTAA
5550
E A K V D K I K E A A N K L I 81
GCAAAATCCA TTCTTTGCTG TTTTAGCTTG GCAGGGCCT
T
GTGAATCTTT
5600 |
var(5590):[G:0.01]
ATAGGCTTTC TCATGAAAAC TAGAAATTAT TGTGGGAACT GAGTTCCTGT
5650
AGATCACAGT ATATTATACT CCCCATGTTA ACTTTTTATC ACTTCAGTTT
5700
CAAAGCAACA G
C
AATTGATT TCTGAAAGAT GAAGGTAGGG ATTAAGAGAC
5750 |
var(5712):[T:0.04]
CTGGAACACT AATGAAGGTA ATTATTTTTG CCAAAACTTT TTGTCTCTCT
5800
TTATATTACT TTTTCTGGCT GTCTCTGCCT TTCCTTCTCC
T
T
T
C
C
T
T
T
T
T
5850 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
C
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
A
G
G
C
C
A
G
A
G
T
G
C
A
5900
G
T
G
G
C
G
T
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
G
G
G
G
T
T
C
A
A
G
C
G
A
G
5950
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
C
A
C
A
G
C
A
C
C
A
6000
C
G
C
C
C
A
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
A
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
6050
C
C
A
A
G
A
T
G
G
T
C
T
C
A
A
T
T
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
T
G
C
C
T
G
C
C
C
T
G
G
C
C
T
C
C
6100
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
C
A
C
C
A
T
G
C
T
C
G
G
C
C
TT
C
ATTTTT
6150 |
var(6144):[T:0.01]
ATTTTTTACC TTTCTCCTCC TCAGTTTTGT CTTGTCTCCT CAAATATCAT
6200
ACCTATGGCT GTTGTGAAGC ACTGAGTACC AAAGAAGTTG CTCTCTCCTG
6250
GTATAGGAGA TTGATATATA GCCAATTGAT ATAGCCAATT GATAAGAGAG
6300
CACTGGATTA GAAAAAGACC AACAGTGGTT GGGTCTACAT ATGTGCAGTT
6350
GAGATAGATA TGACCAAGCA TGTGCTCACT GAAGCAGCTG AGCTAAGCTA
6400
ACCCATAC
T
G
A
T
G
C
A
G
G
G
C
A
G
G
T
G
A
G
C
C
C
C
C
A
A
A
T
T
G
A
G
G
C
T
T
A
A
C
C
T
G
G
6450 |
REPEAT
|
var(6433):[G:0.01]
G
A
G
G
G
T
T
C
T
T
G
G
C
T
T
T
G
C
C
C
A
A
A
G
G
T
G
A
G
C
C
A
G
T
G
G
T
G
T
T
G
G
A
C
A
G
C
A
A
C
6500
T
T
T
T
G
T
T
G
A
A
G
C
A
G
C
C
C
A
G
T
A
C
A
G
T
G
C
A
G
C
A
G
A
G
G
T
A
C
T
G
C
T
C
C
T
T
G
C
A
G
6550
A
G
C
A
G
G
G
C
T
A
C
C
T
C
A
T
A
G
G
C
A
G
T
A
T
G
C
C
C
A
G
A
A
G
T
A
G
C
A
G
C
T
C
A
G
A
G
G
C
A
6600 |
var(6565):[T:0.03]
G
T
T
T
T
G
C
C
A
T
T
A
T
A
G
T
T
A
T
A
C
C
C
A
C
T
T
T
T
A
A
T
T
A
C
G
T
G
C
A
A
A
T
T
A
A
G
G
G
G
6650 |
var(6613):[C:0.01]
C
A
G
T
T
T
A
T
G
C
A
T
A
A
A
T
T
T
C
T
A
G
A
A
A
A
A
G
T
G
G
T
A
A
T
T
T
C
T
G
G
G
T
C
A
T
T
G
G
G
6700
T
C
A
T
T
G
C
A
A
T
G
G
A
A
A
G
G
G
G
C
A
G
T
A
A
C
T
T
C
C
A
G
G
T
G
T
T
G
C
C
A
T
A
G
C
A
A
T
G
G
6750
T
A
A
A
C
T
G
A
C
A
T
G
G
C
A
C
A
T
T
G
G
T
G
G
G
C
C
A
T
G
T
C
T
T
A
T
G
G
A
A
A
G
T
T
G
C
T
T
C
T
6800
G
C
C
C
T
G
G
A
C
C
C
T
G
T
T
T
T
A
G
C
T
A
G
T
T
C
T
C
A
A
T
T
T
G
G
T
C
T
G
G
T
G
T
C
T
G
A
G
C
C
6850
C
C
A
C
C
T
C
T
G
G
A
G
T
C
A
A
A
T
C
C
C
C
T
C
T
C
C
T
A
C
C
T
T
A
CTACTT TCTAGCAGGG
6900
CCCACTGACT GTGAGGGGCC TTTGCAACTG CCAGGCTGCC AGACAAAAGC
6950
CTATATACCT TTGACCCAAG CTTTTATGTA GAGCTTTTGG GAATCACTAG
7000
AGGTACCAGC TCTTGAAATA GGAAAGCAAA GAAAGGTAGT CACTAAGTCT
7050
TCCTCTTCAT TTAATAGCAG GCCTCTCCAT TTCTCTATTG GTATGTGA
G
G
7100 |
NOT SCANNED
G
T
C
T
C
A
T
T
C
C
C
A
G
T
G
A
G
T
C
T
G
A
G
A
A
G
C
T
C
T
C
T
T
C
A
C
C
A
A
C
G
G
C
C
A
T
T
T
G
G
7150
T
T
T
C
C
T
T
C
T
T
C
A
G
A
G
G
C
A
G
C
C
A
A
G
G
C
A
G
G
A
G
A
G
T
G
A
T
G
C
A
A
G
T
G
G
C
A
G
T
G
7200
T
G
A
T
C
C
T
G
A
A
C
T
T
G
G
A
G
G
G
G
A
C
T
C
A
A
C
C
G
A
A
C
T
G
A
A
T
C
A
C
T
C
T
G
A
A
C
C
C
A
7250
G
C
T
C
A
G
T
T
G
C
T
C
T
A
G
C
T
T
C
T
G
A
G
T
A
C
A
C
T
C
A
G
G
C
A
G
T
G
T
A
C
C
C
A
C
A
A
G
T
C
7300
A
A
T
T
C
C
A
C
A
A
C
T
G
C
C
A
G
G
G
T
G
T
T
G
A
A
G
A
A
A
G
C
C
C
T
G
G
A
G
C
A
G
T
A
C
T
C
A
G
G
7350
G
T
T
T
G
G
G
A
A
A
C
T
G
C
T
C
T
A
T
G
A
C
A
T
T
A
G
A
G
T
T
G
T
T
T
T
C
T
T
T
G
G
A
A
A
T
T
A
A
A
7400
T
C
T
T
A
T
T
A
C
C
A
A
A
G
A
A
A
A
G
A
A
C
C
T
C
T
C
T
C
T
T
T
C
T
C
A
A
G
C
A
C
C
C
A
C
T
A
C
T
G
7450
C
A
C
C
A
A
G
A
A
T
C
T
T
C
T
C
C
T
T
T
C
T
T
A
G
C
T
T
A
A
A
C
T
G
T
T
T
A
T
T
C
T
T
T
T
T
T
A
T
T
7500
T
G
T
A
T
T
T
T
T
T
A
A
G
A
G
A
C
G
G
G
T
A
T
C
A
G
G
C
C
A
G
G
T
G
C
A
G
T
G
G
C
T
T
A
C
G
C
C
T
G
7550 |
REPEAT
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
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
G
7600
T
T
C
A
A
G
A
C
C
A
A
C
A
T
A
G
T
G
G
C
C
A
A
C
A
T
A
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
7650
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
A
G
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
7700
T
G
G
G
A
G
G
C
T
G
A
G
A
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
A
C
T
G
A
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
7750
G
T
G
A
G
G
C
A
A
G
A
T
C
A
C
G
C
C
A
C
T
A
C
G
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
C
A
G
C
G
A
G
A
C
7800
T
C
T
G
T
C
T
C
A
A
A
A
G
A
A
A
A
A
A
A
A
A
G
A
G
A
G
A
G
A
G
A
G
A
A
G
G
G
T
A
T
C
T
C
A
C
T
A
T
G
7850 |
REPEAT
T
T
G
C
C
C
A
G
T
C
T
G
G
G
C
T
T
G
A
A
C
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
C
C
T
C
C
T
G
C
C
T
C
T
7900
G
C
T
T
C
T
G
A
A
G
T
A
C
A
T
G
G
G
A
C
T
A
C
A
G
G
A
A
T
A
T
G
C
C
A
C
T
G
T
G
C
C
C
A
G
T
T
T
T
A
7950 |
REPEAT
T
T
T
A
T
T
C
A
T
T
T
A
T
T
T
T
T
G
A
G
A
C
A
A
G
G
T
C
T
C
A
C
T
C
T
A
T
C
A
C
C
C
T
G
G
C
T
G
G
A
8000
G
T
A
C
A
G
T
G
G
C
T
C
A
A
T
C
A
C
A
G
T
T
C
A
C
T
G
T
G
G
C
C
T
T
G
A
C
C
T
C
C
C
A
G
G
C
T
C
A
A
8050
G
C
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
T
C
A
G
T
A
G
C
T
A
G
G
A
C
T
A
C
A
G
G
C
A
T
A
T
G
C
8100
T
A
C
C
A
T
G
T
C
C
A
G
C
T
A
A
T
T
T
T
T
A
A
A
A
A
T
T
T
T
T
G
T
G
G
A
G
G
C
C
G
G
G
C
C
T
G
G
T
G
8150 |
REPEAT
G
C
T
C
A
C
G
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
G
A
G
G
C
A
G
G
C
G
G
A
T
C
A
T
8200
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
A
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
8250
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
A
T
T
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
C
A
G
G
C
G
C
C
T
G
T
A
G
T
8300
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
T
C
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
A
G
G
A
G
G
T
8350
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
8400
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
A
A
A
A
T
T
T
G
T
G
G
A
G
A
T
G
G
G
G
G
A
8450 |
REPEAT
G
G
G
G
T
G
G
T
C
T
T
A
C
T
A
T
A
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
G
C
T
G
G
C
A
T
C
A
A
8500
G
C
A
G
T
C
C
T
C
C
C
G
C
C
T
C
A
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
T
G
T
G
A
G
C
8550
T
A
C
T
G
C
A
C
C
C
A
G
T
T
G
T
T
T
A
T
T
C
T
T
A
G
A
G
A
T
A
G
A
G
A
A
A
G
T
G
A
T
T
G
A
G
A
G
A
G
8600
A
G
A
G
A
G
A
G
A
C
A
G
A
G
A
G
A
G
A
G
G
A
G
A
G
A
A
A
G
A
A
A
G
G
A
A
G
T
T
A
A
T
T
T
C
A
T
A
A
T
8650
A
C
G
G
T
G
G
T
T
C
T
A
A
A
C
A
C
T
G
A
T
G
T
G
T
A
T
C
A
G
A
A
T
C
A
C
C
T
G
G
T
G
T
G
G
C
T
A
A
T
8700 |
REPEAT
A
A
A
G
A
A
A
A
C
A
G
A
A
G
C
C
C
A
G
A
C
T
T
G
G
C
T
C
A
C
TCAAGTAGGA TAGGACCTGG
8750
GCTTGGCTGT CCCCATTCTC CAAGTTCTCC AAAGTTTAAG AACCACAGTC
8800
ATAGTATAAA ACAACAAAGA GGGACACCCA TTAGACTACA TTGGGGCCCA
8850
TTTTCACTAG TCCTCCACTG CATCAGCTGT ACCTTTTTAA TCAGTCAATA
8900
AGTAGTATAT CTACCATGTG AAAAATGTTG TCTCAAGAAT AATGAAAACT
8950
GGAATTTCTG TGCCCCTTGA AACTTCTACA GCTGGAAAAA AAATGATGCT
9000
GTTGAATGAA AAAAAGTGAA TTGTTAGTAA AATACCCTCT GCTTTATGCC
9050
ATAATTATAT CTCATTT
G
G
C
T
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
9100 |
REPEAT
|
var(9091):[C:0.01]
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
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
T
G
A
G
9150
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
T
G
T
G
A
A
A
T
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
9200 |
var(9175):[C:0.08]
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
A
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
9250 |
var(9207):[T:0.01]
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
T
C
C
A
G
G
A
A TATGTGTATA TATATGTGTA
9300
TATGTATATA TGTGTGTATA TATGTATATG TATATGTGTA TATATGTATA
9350
TGTATACACA TATATGTATA TATGTGTATA TAACGTGTGT ATATATGTGT
9400
ACATGTATAT GTGTGTATAC ATA
T
G
TGTGT GTGTGT
G
TAT ATATATATA
A
9450 |
var(9424):[:0.96]
|
var(9437):[A:0.03]
|
REPEAT
T
T
T
A
A
T
T
T
T
C
A
C
A
G
C
T
A
C
T
C
C
T
T
G
A
A
G
A
A
A
C
A
C
T
G
T
T
G
C
A
T
G
T
T
T
G
A
C
C
C
9500 |
var(9484):[C:0.01]
A
A
A
A
G
A
G
G
A
A
G
C
T
G
A
T
G
T
A
T
A
G
C
A
A
G
A
T
T
A
A
G
T
A
G
T
T
T
A
C
T
C
C
A
T
A
T
C
A
T
9550 |
var(9527):[G:0.02]
A
G
A
A
C
T
A
A
T
A
A
C
T
A
T
T
A
G
A
G
A
C
A
T
G
A
T
T
T
G
A
A
C
C
T
A
G
A
A
A
G
G
G
C
A
G
C
T
C
T
9600
A
A
A
G
C
C
T
G
T
G
T
T
C
C
T
A
A
C
C
A
T
A
A
T
C
T
T
G
T
A
C
T
G
CCTTCAA GGACAAGTGA
9650
ACTGTAGCTT ATACCAAATG ATGATCTTAA TAACTGAGTA TATCATTTTG
9700
GGCAACATTT GAAAATACAA CCATGATCTT TAAACTCTTT TTGAACATTT
9750
CCTTTTATCT TTCTGTAG
G
A
A
C
C
A
G
G
A
T
T
C
T
T
G
A
C
T
G
C
A
T
T
T
G
A
G
T
A
T
A
G
9800 | Exon 5
E P G F L T A F E Y S 92
T
G
A
A
A
A
G
A
G
G
A
A
A
A
T
G
G
T
T
T
T
C
C
A
T
A
T
C
A
C
C
A
C
C
G
G
G
A
G
C
C
A
G
G
A
A
T
T
T
G
9850
E K R K M V F H I T T G S Q E F 108
A
GTATGTATC TTACTTTTTT ATAATCACTA AG
C
ATAATCT TTGGAATACC
9900 |
var(9883):[T:0.05]
D 109
ATGTTTCTTT TCCTCTTTCT GGTTACTTCT ACTATAAGTA GTAGAAGTAG
9950
CTTCTTCATT TGAAGTTTGG GTTTGTTTGT TTTTTTTTCT AAATGATAAC
10000
TGAAACAAAT TCTAGACTGC TTGGAGGAGC AAGATTAAAT GTCTTACAAG
10050
AAATTCAGAC CCAAAATCTA GTTTCTGAAT CAGCCAATAT TAATCTCAAA
10100
CCACTTTTAA AAATCAGTTT AACTTTTCAT TTACTTTCCT TCTCCATATG
10150
AAGGATGTTT CATTGCACAT TTTGGGTTTA CTCAAAAAGC AATTGTTAGA
10200
TTAAATATTT CAGAAATATT GCAGTTATTT TTGCTCTTCT GCAGGAGAAG
10250
TTTTAACATC CCTTTTTATT TACTCTTTTA TGATCCCCAA GACATATCAT
10300
CATCTTCTCA ATGCAAGTTT ACTAAAATGT GGGTTTTTTC TCCCTACCTT
10350
ACTAGAAAGA ATTAGTGTTT CATGTGTTAC AGCAGTGCCC AAGAGCATTT
10400
AGAACAAAAG CAGTATTTCC TCTAAGTATT TCTCAAAATG CTGGCCTCAC
10450
AAGATACATT AAGAAAAAAA GGATTTCATA GTCAAAT
A
T
A
C
C
T
C
C
A
C
T
T
G
10500 |
REPEAT
A
A
C
G
T
C
T
A
A
T
T
G
A
T
A
G
C
T
C
A
G
A
C
T
T
C
A
C
A
G
G
T
C
C
A
A
A
A
A
T
C
A
A
A
C
T
T
C
T
G
10550 |
var(10539):[G:0.01]
A
C
C
T
T
T
G
C
C
C
C
A
A
A
T
C
T
G
C
T
T
C
T
C
C
C
A
A
A
G
T
C
T
C
C
C
T
C
A
T
C
T
T
A
G
A
T
C
T
A
10600
T
C
T
C
T
T
T
C
C
T
G
A
T
C
C
T
C
T
G
A
C
C
T
A
A
A
A
C
C
T
G
G
G
T
G
T
T
A
T
C
C
T
T
G
A
C
A
T
C
T
10650 |
var(10620):[G:0.01]
T
T
T
T
T
C
T
C
T
C
A
C
A
C
A
C
C
C
T
A
A
C
T
C
T
A
A
C
C
C
A
T
T
A
A
T
A
A
A
T
C
C
T
G
T
C
T
G
T
T
10700 |
var(10660):[T:0.31]
C
T
A
A
T
T
T
C
A
A
A
A
T
A
T
A
T
T
T
A
G
TCAGAACAA ACCTCCCAG
T
T
T
C
C
T
C
A
A
C
A
10750 |
REPEAT
A
A
T
A
A
A
T
T
A
C
A
A
G
G
A
G
G
A
A
A
A
A
A
G
A
G
A
T
G
G
A
G
T
C
A
G
G
G
A
G
A
T
G
G
A
G
T
C
A
G
10800 |
var(10778):[:0.99]
G
G
A
G
A
A
G
A
C
C
T
A
T
A
G
A
T
T
A
A
A
G
A
G
A
T
T
T
A
A
A
A
G
A
C
A
T
A
T
C
A
CCT
G
G
C
C
G
G
10850 |
REPEAT
G
T
G
C
A
G
T
G
G
G
T
G
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
C
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
T
G
G
10900 |
var(10898):[C:0.01]
A
G
G
T
G
G
G
G
A
G
G
G
G
A
T
C
T
C
T
T
G
A
G
A
T
C
A
T
C
C
T
A
A
C
G
G
C
A
A
A
C
T
G
A
G
A
C
C
T
T
10950 |
var(10922):[C:0.03]
G
T
C
T
C
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
A
T
G
G
T
G
C
A
C
A
11000
C
C
T
G
T
A
G
T
T
C
T
A
G
C
T
A
C
T
C
A
G
C
A
G
T
C
T
G
A
G
T
G
A
G
A
T
A
G
A
A
G
G
A
T
T
G
C
T
A
G
11050
A
G
C
C
C
A
G
G
A
G
G
T
T
G
A
G
G
T
T
G
A
G
G
C
T
C
T
A
G
T
G
A
G
C
C
G
C
G
A
T
C
A
T
G
C
C
A
C
T
G
11100
C
A
C
T
C
T
A
G
C
C
T
G
G
G
T
G
A
C
G
C
A
G
A
G
A
G
A
A
A
C
C
T
T
G
T
C
T
G
A
A
A
A
A
A
A
A
A
A
A
T
11150 |
REPEAT
T
A
A
G
G
A
A
T
T
A
C
T
A
A
A
T
T
T
A
A
G
T
G
T
G
A
T
A
G
T
G
G
G
A
A
T
A
T
G
G
T
T
G
T
T
A
A
A
G
A
11200
T
G
A
G
A
G
T
C
T
T
C
A
T
C
T
T
C
A
T
C
T
T
T
T
A
G
G
G
A
T
A
C
A
T
A
C
T
G
A
A
A
T
A
T
T
T
A
T
A
A
11250
T
G
A
A
A
T
G
A
T
A
T
G
T
T
G
C
T
T
A
G
T
A
T
A
T
G
C
T
T
A
A
A
A
T
A
A
T
A
T
G
G
G
A
A
G
G
G
A
G
G
11300
T
A
A
A
T
G
G
T
T
A
G
T
G
G
T
C
T
A
T
A
T
G
A
A
A
A
A
A
G
A
T
T
T
A
C
C
C
T
G
A
G
T
T
C
A
T
A
G
T
T
11350
G
A
C
G
A
T
T
G
T
T
G
A
A
G
C
T
G
A
G
T
G
A
T
A
G
A
C
A
C
G
A
T
G
G
T
T
C
A
T
T
A
T
T
T
T
T
T
T
T
C
11400
T
A
C
A
T
T
T
G
T
T
T
A
T
G
C
T
T
G
A
T
A
T
T
T
T
C
T
A
T
A
A
T
A
A
A
A
G
A
T
T
A
A
T
ATATAAT
11450 |
var(11407):[C:0.01]
ATATGTTATT TTTATGTGTA TATGTG
T
G
T
G
T
G
T
A
C
A
T
A
G
A
G
A
G
T
G
A
G
A
A
T
11500 |
NOT SCANNED
A
T
A
A
T
T
C
A
A
C
T
A
T
T
T
C
T
T
A
C
C
A
C
C
T
C
T
A
C
T
G
T
T
A
C
C
T
C
A
C
T
G
G
A
C
T
A
A
A
C
11550 |
REPEAT
T
A
C
C
A
C
C
T
A
T
T
A
A
T
A
T
C
T
C
C
C
C
T
G
G
A
T
T
A
T
T
A
T
A
A
T
A
A
C
C
T
C
T
A
A
T
T
A
A
C
11600
C
T
C
C
C
T
C
C
T
T
G
A
G
A
C
C
T
T
G
C
C
C
C
T
A
C
T
G
T
T
T
T
G
T
T
T
T
T
T
T
T
T
T
T
A
A
T
T
C
A
11650
C
T
A
A
A
G
A
G
C
C
A
G
A
A
T
G
G
T
C
A
C
T
T
T
A
A
A
A
C
A
T
A
G
G
T
T
A
G
G
C
T
G
G
A
A
T
G
C
A
G
11700
T
G
G
C
T
C
A
T
A
A
C
A
C
C
C
T
G
A
T
G
A
T
T
C
C
C
C
C
T
C
T
C
A
C
T
C
A
G
A
A
A
A
G
A
A
G
C
C
A
A
11750
A
G
T
C
C
T
C
T
C
C
C
A
T
C
T
C
T
A
A
T
A
T
T
T
C
A
C
T
T
T
T
C
T
A
G
T
T
T
T
C
T
A
T
G
T
A
C
C
A
G
11800
C
C
A
T
A
G
T
G
A
C
C
T
C
T
T
T
G
C
T
A
T
T
C
C
C
A
G
A
A
T
A
T
G
T
C
A
G
A
T
A
C
A
C
T
C
C
T
G
C
A
11850
T
C
A
G
G
G
C
C
T
T
T
G
C
A
C
T
T
T
G
T
G
C
T
G
C
C
T
C
T
G
C
C
T
A
T
C
A
T
A
T
T
C
T
T
T
C
C
T
C
T
11900
T
A
G
A
T
C
T
A
C
A
T
G
G
C
T
T
G
C
T
G
T
C
A
T
C
T
C
T
T
T
C
A
G
G
T
C
T
T
G
G
C
A
A
A
A
A
T
G
T
C
11950
C
A
T
G
T
C
T
C
A
A
T
G
A
G
A
A
C
T
T
C
T
C
T
G
A
T
C
A
C
T
T
T
A
T
T
T
G
A
C
A
G
T
A
T
A
A
C
C
T
C
12000
C
T
A
A
C
T
T
T
C
A
T
A
C
T
C
T
G
T
C
T
T
C
C
T
T
G
T
C
C
C
C
T
T
T
C
C
T
G
G
C
C
T
T
A
T
T
T
T
T
A
12050
T
C
C
A
T
A
C
C
A
T
T
T
A
A
T
A
A
C
A
T
C
T
G
A
T
G
T
A
C
T
A
C
A
T
A
T
T
T
T
A
C
T
T
A
T
T
T
G
T
G
12100
T
T
T
A
T
T
T
T
T
T
A
T
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
T
T
T
T
T
C
A
G
A
C
G
G
A
G
T
C
T
T
G
C
T
12150 |
REPEAT
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
C
A
T
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
12200
C
T
G
C
T
G
C
C
C
A
G
G
T
T
C
A
A
G
C
G
A
T
T
C
A
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
12250
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
C
T
T
T
T
A
G
T
A
12300
G
A
G
A
C
A
G
G
G
T
T
T
C
A
G
C
A
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
T
C
C
C
12350
A
T
G
A
T
C
C
A
C
C
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
G
A
G
C
T
12400
A
C
C
G
G
C
G
C
C
T
G
G
C
C
T
A
T
T
T
G
T
G
T
T
T
A
T
T
A
T
C
T
A
A
T
C
T
C
T
C
A
C
T
A
G
A
T
T
G
T
12450 |
REPEAT
A
A
A
C
T
T
C
G
T
G
A
G
A
G
A
A
A
A
A
A
A
T
T
C
T
G
T
C
T
C
T
T
T
T
G
T
T
C
T
C
T
A
G
T
T
T
A
T
C
C
12500
C
A
A
G
T
G
C
A
C
A
A
A
A
C
A
A
T
C
C
C
T
G
G
C
A
T
A
A
A
C
T
A
G
G
T
G
T
G
C
A
A
T
A
A
A
T
A
T
T
T
12550
G
T
T
G
A
A
T
G
A
C
T
A
A
A
T
G
A
A
T
G
A
A
T
A
A
A
C
A
A
A
T
A
G
T
G
A
A
T
A
A
G
T
T
T
G
A
G
A
A
G
12600 |
REPEAT
T
A
C
C
A
T
A
T
A
C
T
A
T
A
T
A
T
T
C
T
T
C
T
T
G
A
A
G
A
G
T
C
A
C
A
G
C
G
C
A
C
A
C
T
A
G
C
C
T
G
12650
T
G
A
A
A
T
C
C
T
G
C
A
G
T
G
A
C
A
C
A
A
A
A
C
A
C
C
T
G
T
T
T
T
G
G
C
A
G
G
G
C
A
C
G
G
T
G
G
C
C
12700 |
REPEAT
C
A
C
A
C
C
T
G
T
A
A
T
C
A
C
A
G
C
A
C
T
T
C
G
G
G
A
G
G
C
C
A
A
G
A
T
G
G
G
T
G
G
A
T
C
A
C
C
T
T
12750
A
G
G
T
C
A
G
G
A
G
T
T
C
T
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
12800
A
C
T
A
A
A
A
A
T
T
A
C
C
A
A
A
A
A
A
A
T
G
G
C
T
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
T
T
A
A
T
12850 |
REPEAT
C
C
C
A
G
C
G
T
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
A
T
C
A
G
G
A
G
T
T
12900
C
G
A
G
A
C
C
A
G
C
C
T
A
A
C
C
A
A
C
A
T
G
G
A
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
12950
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
T
G
T
G
C
C
T
G
T
G
G
T
C
A
C
A
G
C
T
A
C
T
C
G
G
G
13000
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
A
T
G
G
A
G
G
T
T
G
T
G
G
T
G
A
13050
G
C
C
G
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
A
A
T
A
G
A
G
T
G
A
G
A
C
T
C
A
G
13100
T
C
T
C
A
A
A
A
G
A
A
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
A
T
A
C
C
T
G
T
T
T
A
A
C
C
C
A
G
C
A
T
T
G
T
C
13150
C
C
A
G
A
C
T
T
T
T
A
A
A
A
T
C
A
C
A
T
A
C
C
C
T
T
T
T
T
T
C
A
A
G
T
A
A
A
G
T
T
A
A
G
G
A
A
G
A
G
13200
G
C
T
T
G
G
A
G
A
A
A
T
C
C
T
A
C
C
C
C
T
A
G
G
C
A
A
A
T
T
G
G
T
C
A
A
A
A
T
G
A
G
G
T
T
G
A
T
C
A
13250
A
C
A
A
A
A
C
A
C
T
T
G
A
T
T
C
A
A
A
T
G
A
C
A
A
T
C
T
G
A
T
T
T
T
C
T
T
T
A
G
T
T
A
C
T
C
T
A
C
C
13300
A
C
A
T
G
G
T
G
G
T
C
T
A
A
G
A
A
C
C
A
C
T
G
G
G
C
T
A
A
A
G
A
A
A
T
A
A
T
T
A
C
T
G
T
T
A
T
T
G
T
13350
G
A
G
T
T
T
T
C
T
G
G
T
G
C
C
C
T
T
G
A
T
G
T
T
T
G
C
T
C
T
T
G
A
G
A
A
C
A
G
A
A
A
A
G
A
T
C
A
T
T
13400
C
A
G
G
A
G
C
T
A
G
G
T
T
T
T
T
T
T
T
T
G
T
T
G
T
T
T
G
T
T
T
G
C
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
13450 |
REPEAT
G
C
T
G
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
13500
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
13550
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
T
G
T
G
C
C
A
C
C
A
C
A
C
C
G
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
13600
G
T
A
G
A
G
A
C
A
G
A
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
C
C
T
C
G
A
A
C
T
C
C
T
G
A
C
13650
C
T
C
A
G
A
T
G
A
T
C
C
A
C
T
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
A
C
T
G
G
G
A
T
T
A
C
A
G
A
T
G
13700
T
G
A
G
C
C
A
C
T
G
C
G
C
C
C
A
G
C
C
A
G
G
A
G
C
T
A
G
G
T
T
T
T
T
A
A
A
A
A
T
T
A
A
T
A
T
T
T
A
A
13750
T
T
A
A
T
T
A
A
A
A
T
A
T
T
A
T
A
C
A
T
T
T
T
T
C
C
T
T
A
A
G
C
T
T
T
A
A
G
T
C
C
C
T
T
T
A
T
A
A
A
13800
T
C
T
A
G
C
A
C
A
T
T
T
T
A
A
G
G
G
T
G
C
T
T
T
T
A
T
A
A
C
A
A
G
A
T
T
A
A
A
T
T
C
T
C
T
T
A
A
A
C
13850
A
T
T
T
T
A
A
T
T
A
T
G
T
T
T
A
T
A
C
A
T
T
T
A
G
T
G
T
A
T
T
G
T
A
T
T
T
T
C
T
T
T
A
A
G
A
A
C
T
T
13900
T
A
T
T
T
G
T
T
G
G
C
C
A
G
G
T
G
C
A
C
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
A
C
A
C
T
T
T
G
G
13950 |
REPEAT
G
A
G
G
C
T
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
A
A
G
G
T
C
T
C
T
A
C
T
A
A
A
G
A
C
A
G
G
A
T
C
A
C
C
C
14000
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
C
G
G
G
C
A
T
G
G
T
G
G
C
G
G
G
T
G
C
C
T
G
14050
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
T
G
C
A
G
A
G
A
A
T
T
G
C
T
T
G
A
A
T
C
C
A
G
G
A
14100
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
G
G
C
14150
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
G
T
C
T
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
G
A
A
C
T
14200
T
T
G
T
C
T
A
A
T
T
A
T
C
T
A
A
T
T
A
T
T
A
A
C
A
G
C
A
A
A
A
T
C
T
T
C
C
C
A
A
T
T
A
C
C
T
A
A
A
T
14250
A
T
C
T
T
T
T
G
T
A
A
C
T
C
A
A
A
T
A
A
A
T
T
T
A
G
A
A
G
T
A
T
A
G
T
G
A
G
T
T
G
T
A
G
G
C
A
C
C
A
14300
T
T
A
A
A
T
G
T
T
C
A
A
A
T
A
C
T
A
T
T
T
A
T
A
A
A
A
T
T
A
G
T
T
A
T
C
A
A
C
T
T
G
A
A
A
A
T
T
G
A
14350
A
G
G
A
A
T
G
T
A
C
C
A
T
T
T
A
A
T
C
A
G
T
C
A
G
A
G
G
C
C
A
A
T
C
C
A
T
T
A
C
A
A
A
A
A
G
G
T
C
A
14400
A
A
T
T
A
T
C
T
T
A
A
A
C
G
T
T
A
A
A
A
G
G
T
C
T
C
A
A
A
T
A
G
C
A
A
A
T
A
T
G
C
A
C
A
G
G
T
T
A
T
14450
T
A
C
C
A
A
A
T
T
T
A
T
T
T
A
T
T
T
A
T
A
T
T
C
T
A
T
T
T
T
A
T
T
T
T
T
T
G
A
G
A
C
A
C
G
G
T
C
T
C
14500 |
REPEAT
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
A
A
A
A
T
G
C
A
G
T
G
G
C
T
C
C
A
T
C
A
C
G
G
C
T
C
A
C
T
G
C
A
G
14550
C
C
T
G
A
G
T
A
G
A
T
G
G
G
A
C
T
G
C
A
G
G
C
A
C
A
G
G
C
C
A
G
C
A
T
A
C
C
T
G
G
C
T
A
A
T
T
T
T
G
14600
G
T
A
T
T
T
T
C
T
G
T
A
G
A
G
A
C
T
G
G
G
T
T
T
C
G
C
C
A
T
G
T
T
A
T
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
14650
A
C
T
C
C
C
A
G
G
C
T
C
G
A
G
C
G
A
T
C
C
A
C
C
T
C
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
A
G
A
14700
T
T
A
C
A
G
A
C
A
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
A
T
A
T
T
G
C
C
A
A
A
T
T
T
A
A
T
A
T
G
A
A
A
A
T
A
14750
G
T
A
A
T
C
T
A
T
G
G
G
T
T
T
G
A
T
T
T
G
T
G
T
C
T
C
T
A
T
T
T
T
T
A
A
A
T
C
T
C
C
C
T
A
T
A
T
T
T
14800
A
A
A
A
A
C
A
C
T
A
T
T
T
C
T
A
C
A
C
T
T
A
A
T
T
C
T
A
A
A
T
T
T
T
C
C
T
G
A
G
T
C
T
C
A
A
A
A
A
G
14850
G
A
A
A
C
A
A
T
T
G
T
G
C
T
A
T
C
C
C
A
A
A
T
A
A
T
T
T
G
G
G
G
T
A
T
C
C
T
C
A
C
A
G
G
T
A
A
A
T
T
14900
T
T
G
G
G
G
T
T
A
C
C
T
T
T
T
C
A
G
C
T
G
A
T
T
G
A
G
A
T
T
A
C
A
T
A
T
C
A
A
C
C
A
G
G
A
A
T
T
T
T
14950
G
T
C
T
G
G
G
A
T
T
T
T
C
C
A
G
A
G
G
T
A
T
A
G
C
T
T
T
C
C
A
G
G
G
T
A
A
T
T
T
T
T
C
T
C
A
G
G
A
A
15000
G
A
A
G
A
G
G
G
A
C
A
A
A
T
A
A
A
G
C
T
T
T
C
T
T
T
A
A
T
A
G
T
T
G
C
T
A
G
C
C
C
A
A
C
C
A
C
C
A
T
15050 |
REPEAT
G
G
C
A
C
A
C
G
T
T
T
A
C
C
T
A
T
G
T
A
A
C
A
A
A
C
C
T
G
C
A
T
A
T
C
T
G
G
C
A
C
A
T
G
T
A
C
C
C
C
15100
T
G
A
A
T
T
T
A
A
A
A
T
A
A
A
A
G
T
T
G
A
A
G
A
A
A
A
A
A
A
T
A
G
T
T
G
C
T
G
G
G
C
C
T
A
T
A
A
G
A
15150
T
T
T
C
C
A
A
G
T
G
T
A
T
T
C
C
C
T
C
C
A
A
A
T
G
G
G
T
T
G
A
T
C
G
C
T
T
A
G
C
C
C
A
T
G
T
C
C
T
T
15200
T
A
G
A
T
T
T
A
A
G
T
T
G
T
G
C
A
G
G
T
A
C
A
C
T
A
T
C
T
A
G
A
T
T
T
T
T
C
T
T
T
T
C
C
T
T
A
T
T
G
15250
A
A
G
T
C
T
G
C
A
G
C
C
C
T
C
A
C
T
A
A
A
T
T
T
G
T
G
G
A
T
A
A
C
T
T
C
C
A
A
C
A
T
T
G
T
T
T
C
A
A
15300
T
T
T
A
C
A
T
T
T
A
A
A
T
T
G
C
T
C
T
C
T
T
A
A
A
C
T
A
T
G
T
A
A
A
T
G
T
A
A
A
T
G
T
A
T
T
G
G
A
T
15350
T
A
T
C
T
A
T
A
T
A
T
C
T
T
A
A
A
T
T
T
T
T
G
T
C
T
G
A
C
C
T
G
T
G
A
T
C
A
C
A
T
C
C
C
A
A
A
A
A
A
15400
T
C
A
T
G
T
T
A
A
T
A
G
A
C
T
A
C
A
T
A
C
A
A
G
G
T
T
T
T
T
A
A
A
G
T
G
C
C
C
C
T
A
C
C
A
G
G
T
C
T
15450
T
A
G
C
A
C
A
A
T
T
A
A
C
A
C
A
A
T
T
A
A
T
A
T
G
T
G
T
T
G
C
A
T
T
T
A
A
T
G
A
A
T
G
A
A
T
G
A
G
A
15500
T
C
A
T
G
A
C
T
T
A
A
A
T
T
T
A
G
G
C
C
T
T
T
T
C
T
T
A
T
T
C
A
G
A
G
C
T
T
T
A
A
A
T
G
C
A
C
T
A
C
15550
A
A
C
A
T
T
G
G
G
C
T
A
C
C
A
A
T
T
A
A
A
T
G
T
A
T
G
C
T
G
T
C
A
G
A
A
TCTG ACAGTTACTC
15600
TTCTAACTGC TAGCATTACC TACAACATCT TTGACATTTA CTATTCTGAC
15650
ATGTCCTCCA TAA
A
ATTTGG TTTATGTGAG ATAACCTGAC CATAATGACA
15700 |
var(15664):[T:0.01]
ATCACTGGAT TTTCCTAATA CCTGTTTTTC ATATGTTTTT CAGTATATTA
15750
AAAACTGA
A
G
C
C
G
G
G
C
A
T
G
A
T
G
G
C
T
C
A
T
G
T
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
15800 |
REPEAT
A
A
G
G
C
C
A
A
G
G
T
G
G
G
C
A
G
A
T
C
T
C
T
T
G
A
G
C
C
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
15850
G
G
G
C
A
A
C
A
T
A
G
C
A
A
G
A
C
C
C
C
A
G
C
C
A
T
A
C
A
A
A
A
A
A
T
A
A
A
A
A
A
T
T
A
G
C
C
CTG
15900
TGTCA
G
G
T
G
A
C
A
G
A
A
C
A
A
G
A
T
T
C
T
G
T
C
T
C
A
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
A
A
A
CA
15950 |
REPEAT
|
var(15936):[T:0.02]
TTGAAAATTC AATTGACTAT AGAAACATAG TTCCAGCACA ATATTAAATA
16000
CCCAATTAAT AACTAAGATG
G
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
T
T
A
T
G
C
C
T
G
T
A
A
T
C
16050 |
REPEAT
C
C
A
G
C
A
C
T
T
T
G
G
G
A
A
G
C
C
A
A
G
G
C
A
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
16100
G
A
G
A
C
C
A
A
C
C
T
G
G
C
C
A
A
T
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
T
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
16150
A
A
A
T
T
A
G
C
C
T
G
G
C
G
T
G
G
T
G
G
C
A
G
G
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
T
G
A
G
16200
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
T
C
T
T
G
A
A
C
C
T
G
G
T
A
G
G
C
G
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
16250
C
A
A
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
T
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
A
T
C
16300
T
C
G
A
A
A
A
A
A
A
A
A
A
A
A
T
AATA ATAATAATAA TTAAGACGAT CTGTAACTCC
16350 |
var(16310):[T:0.02]
|
var(16313):[T:0.10]
|
var(16316):[A:0.02]
AATTCAATTC TAAAGACTAG TAAGACATAA GGCCTTGCTA ACCCATTTAC
16400
TATTTTTTTA AGTTTTTTCT TAAAATAATT TATTATTATT ATTTTTTAAG
16450
CCTACAGCAT GCAGTATTCC CAGGTTCCAT TTACTATTGA AGTAAGAACG
16500
ATAGGGCTTA TCATTTGTTT TGCTGATCCA CTTGCCCATA C
A
CAATAGAA
16550 |
var(16542):[G:0.03]
CCTGTGATCT AGCAAGTGGC ATGCTATTTG TTCAGCCAAG AATTGCTGTT
16600
CATGTTCTGT AGATAGATAG GTAGATGATA GAATAGATAG ATAGATACAT
16650
AGATAGGAAG GATACTAATG ATATGAATAC TTTCTCCTCT CTTAATATTT
16700
CTATTTCTAT TCCTGTTACT AATGCTTTCT TTCTATTTCC AG
T
A
A
G
T
T
A
C
16750 | Exon 6
K L 111
T
A
G
G
A
G
G
T
G
G
A
A
T
T
G
A
A
A
G
T
A
T
G
G
C
A
A
T
T
A
C
A
G
A
A
G
C
T
T
T
T
G
G
A
G
GTAGG
16800
L G G G I E S M A I T E A F G 126
TAGAACCTTA ATATTTTGTT AAATGAAATA TTATACACAC ACACATA
C
AC
16850 |
var(16848):[T:0.01]
ATCTATGTGT ATACATACAC ATATAATTAA ATAAACAACC AATAATAAAT
16900
TGTAAG
T
ATT TTGGAACTTA CAAAATCTCA ATTATCATAA CATGAGATCA
16950 |
var(16907):[C:0.01]
TTCTGTACTG CAACGAAAAT ATATATGAAC ATTAACAGAT GGGTCTTATC
17000
AACACTTTTC ATCTTTTATT TGTGATTCCT ATAGAAGATA ATAGA
T
T
T
T
T
17050 |
REPEAT
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
G
T
G
T
C
A
C
C
C
A
G
G
T
C
C
A
G
G
C
T
G
G
17100
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
T
C
G
G
C
T
T
C
C
T
G
C
A
A
G
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
17150
C
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
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
C
T
G
17200
C
C
A
C
C
A
C
T
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
G
G
A
G
A
C
G
G
G
G
T
T
T
C
A
17250
C
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
T
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
G
C
C
T
T
C
C
A
A
A
G
T
G
17300 |
var(17262):[G:0.01]
|
var(17276):[G:0.01]
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
G
C
C
C
A
G
C
T
GATAAT AGATTTTTTT
17350 |
var(17314):[T:0.02]
TCACTTATTT GTTCAAAAGG TAATTGAATA ATGAGGCT
G
A
T
T
T
T
A
T
T
T
C
T
17400 |
NOT SCANNED
A
G
G
C
A
A
T
T
A
A
T
G
T
T
C
C
A
T
G
A
A
C
A
T
A
G
A
G
A
C
T
A
G
A
T
T
C
C
C
T
C
T
T
C
C
C
T
G
A
T
17450
T
A
T
A
T
C
C
T
C
T
A
T
T
T
T
T
T
T
T
T
T
T
A
A
A
T
A
A
T
A
G
A
T
A
A
A
G
G
G
T
C
T
C
G
C
T
A
T
G
T
17500 |
REPEAT
T
G
C
C
C
A
A
G
A
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
G
A
C
T
C
A
A
G
C
A
A
T
C
C
T
C
C
C
A
C
T
T
T
G
A
17550
C
C
T
C
C
C
A
A
A
G
T
A
T
T
G
G
G
A
T
T
A
C
A
G
G
C