TRPV6 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
CAGTCAGTGA TGATGATAAT TTCTGACTTG TGTACCTGAC ATGATTATGA
50
CAAGAAAATA GCACCAAGCA TGTGAAAGCA CACACGTTCC TAAAATTTTA
100
CTGCTGTAAG GAGTGATTGC AATACCTTGG GCTGCCCTGG TTCCCTTCTC
150
TTGTGCTCTT GCTCCCTCTG CTTTTTCTGA GCCCCCTCTG GACACTGTCT
200
TCCAATTCAG AAATAAGGAT ATAAGGGAAA GAGATGTAGA AATAAAAGGC
250
CATGGCTCCA TGAAGGTGAC ACTGGCCAGG TCCTTAGAGC CTCTGTCATG
300
CCCATAGGTC AGAGAGGGTA ACCCCCCAAT GATGGCTCTT TACTTCTTCA
350
GGAACTCTCA GACTCCAGCC CCTCATCCTG TAGTCTCTCT CTTCTCCCTA
400
AATAAACCAC ATCCAGAGAG GG
C
AGCTGCA AAG
G
GAGGGT TGCAACAAC
T
450 |
var(423):[A:0.02]
|
var(434):[A:0.01]
|
REPEAT
T
G
T
T
C
T
T
T
C
T
T
T
T
T
T
T
G
G
G
G
G
A
C
A
G
G
G
T
C
T
T
A
C
G
C
T
G
T
C
A
C
T
C
A
G
G
C
T
G
G
500
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
G
G
T
G
G
C
T
C
A
C
T
G
C
A
G
T
C
T
C
A
A
C
T
C
A
G
C
C
C
T
C
A
G
C
550
C
T
C
C
C
A
A
A
T
A
A
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
G
T
T
T
T
T
600
T
G
T
T
T
G
T
T
T
T
T
T
G
G
C
A
G
A
G
A
C
A
G
G
G
T
T
T
A
G
C
C
A
T
G
T
T
G
C
C
C
A
A
G
C
AACTT
650
GTTCTTTCTT TACCCAGGCA GAAATCTCTG TCTCTTTCCC TTCTCTCTCT
700
CCCTCCCTCC ACAGGTGAAC TTGGTGAACC TGAGGGGCAA GAAGGAGGCA
750
ATCCCAGGTT CCATGGCCTC TGTGCCAACC CCCCAGGTCT CAGGTCAGTG
800
ATCACTCCTT CCCTCTGGGT CCCAGGCCAG ACCTGATGGG GAAGCTCAGG
850
GCGGGAGGGT GGGAATGGCT GGGGAGACAG GTGTCTCTGC TACATACACC
900
ACGTCCTTTC CTCCATCCTA GTTGCTGCTC CCTTCCCACC TTATCCAGGC
950
CAATTAATCT TTCAAGAGCA GATGGCCATT TCTCTGTGTG TGGGCTGGGG
1000
ATTGAAAAAC CCCCTCCCCA CCCCACC
G
GG CACACACACA CCTCCCTGCC
1050 |
var(1028):[A:0.04]
ACCTTTCCTT GTTCTTCACC ACCTTCTGAG CCCCTCTCTT GTACACTGGG
1100
CCACCTTTAC CCTTGGGGCC TAGGAAAGAA AATATACCTA TTAAATAGCT
1150
TGCAATTTCC CAGGCACAGC TCATTCCTCA TAAAACGTAG TTCATCATAA
1200
ACTCTACGCC AGGCACTCCA GTGCGGAAAA AGAAGAATGT GATGTGATTT
1250
AGCCTCTTCC TTTGAGACTC TCTAGGTGGG AAAAATAGGC AAGCAAAGGG
1300
ACAATGTTAA TGCAGTAAGA TCCTTTCCAT GCAGGGCAGG AGGGAAGAGA
1350
GGTGGGGGCA CAGGAGAGGC AGGGACTGGC CCTGACTGGG TAGAGTTGGG
1400
TGCCTAGGGA AGAAAAGAGA GAGTG
T
GACA TTCAAGTTGG GCTTCAGAGG
1450 |
var(1426):[A:0.04]
ATGAGCTGGA GTTTATGAAC AGATCATCTG GGGCATCTTC CTGAACTGGG
1500
GCAGGATTGG CCTGATTAGA GAGCCTGGTG TAGGGGAAAT GCCATAACCC
1550
G
TATTTCCTC ACTATTCAAG TCAACAGTGA ACAAGAGACT TAGATGTAAA
1600 |
var(1551):[C:0.04]
CAGTCTCTTT GGGAGAGCAG GGGGTGAGGT CTATGGAAGG GATGATACAG
1650
AAACCCACCC TGTGTAGGTG GTAACAGCCT GAGGCAGGAT CTACTCTAGT
1700
CTCCTGGAGG GAGAGAGCGG ATTTTCTCAC CAGAGGGTAA TGTGGTCTAT
1750
CACTGAAAGG GCTCCAAGGC AGAATAACAG CCATAGAAGA GAAGAATGAG
1800
GGAATAAGAA CAGAGGCTAT TACTGTATAT TTGCCATGGG CCAGCTGCCT
1850
CCCACACTCT TCTCT
C
T
C
A
T
C
T
A
A
T
T
C
T
C
A
G
G
A
G
C
C
T
G
C
A
A
G
T
T
A
G
C
T
G
T
1900 |
REPEAT
T
G
T
C
A
T
C
C
T
A
A
T
T
T
T
A
C
A
G
A
C
A
G
G
C
A
A
C
T
A
A
G
G
C
C
C
A
G
A
G
A
G
G
G
T
G
A
G
T
T
1950
A
C
T
T
G
C
C
T
A
A
G
G
T
C
A
A
G
T
G
A
C
T
A
T
T
A
C
C
G
T
G
C
T
C
C
T
T
T
T
G
T
A
G
A
C
A
A
G
G
A
2000 |
REPEAT
A
A
C
T
G
A
G
G
C
T
G
A
G
A
G
G
G
G
T
G
T
G
C
C
A
A
T
T
T
G
A
C
T
A
A
T
A
T
C
A
C
T
C
A
G
C
C
A
G
T
2050
A
A
T
T
A
G
C
A
G
A
G
T
C
T
G
A
T
T
T
T
G
A
A
C
C
C
A
A
A
T
T
T
A
T
C
T
G
G
C
T
C
C
A
A
G
A
C
C
T
T
2100
G
T
A
C
T
T
C
T
A
C
C
T
C
A
C
A
A
T
TC AGAGCCCCTG AGATAAGACA GTTCTAAAGT
2150
CTCTACCAGA AAGCTGTTTC CTAGATGGGT TGGATTTCAA ATACTCCCCC
2200
CAAAGCAAAA TGATAAAACA AGTGACTTGC ATTCATATGA CACTTTATGG
2250
TGTA
T
A
A
A
G
T
C
T
T
T
T
C
A
T
G
G
T
C
G
T
T
A
T
C
T
T
C
T
T
T
A
A
T
C
C
T
A
A
A
A
A
C
A
A
C
C
2300 |
REPEAT
|
var(2281):[T:0.05]
|
var(2285):[:0.01]
C
C
A
T
A
A
A
G
T
A
A
A
C
A
G
A
G
C
A
G
T
A
T
T
A
A
G
C
G
T
T
C
C
T
G
T
T
T
T
A
C
A
G
A
C
A
A
G
G
A
2350
A
G
C
T
G
A
T
T
C
T
C
A
G
A
G
A
G
A
T
T
G
T
C
T
G
A
T
T
G
A
A
G
T
C
A
C
A
G
A
T
C
T
C
A
C
C
A
G
A
A
2400 |
var(2383):[C:0.02]
T
G
G
A
G
C
A
G
G
G
C
A
A
T
G
A
C
C
C
A
G
G
A
T
T
T
C
T
G
G
G
C
T
C
C
CGGAG AGATCTGTCT
2450
CCACAAGGGC TCCCTCGTTG TATGGACAGA TGGACAAATC CAGATCCTGG
2500
TGGATGGAGC ACAACCCTCT TCATAAAGTC TGTAGCAAGG GTGAACACAG
2550
ATAATGGAAC TAAAAGA
C
AC CTCTGAGTCT GTCAGCTCAC AGGCACTTGC
2600 |
var(2568):[T:0.01]
AC
A
CTTCTGA CAGTGTGTTT AGTACATTGC AGCAGCCACC CTCAATG
C
TG
2650 |
var(2603):[G:0.04]
|
var(2648):[T:0.02]
GGCACACAAC TTCAGTCAGA GGATCATCCA CCAGCACCTT CAGTGTTGAC
2700
TCGGATCGGC AGCCCTGTGC CAATAGTTTC CTTCTGCACT TTGGTCTGCC
2750
TGCAAGAATT TTAGGCCCAG TACTGCCTGC GAAA
C
AGTTC CTGGACTTCC
2800 |
var(2785):[G:0.04]
CAGCAGCTTG AAGACTCAGG GTTCCCTCAG ACACTCCAAA GTCAGCTCTT
2850
ATAGTTAGAA ACCTCGGCAA GGCAAGGAGA AGGAGGAGGA GAAGATAAAG
2900
GAGGGCAAGT GGGAGCCCCG GGCAGGAGAA CTGCTCCCAG GGCACAGCAC
2950
ATAGCTCTGT GATGACAGGG GTGATGGGTA AACAGATTCC TAT
C
GGGAGA
3000 |
var(2994):[T:0.01]
TCATTGTATA CTCCAGCTGT CGCCCATTCC CACCTTGCCC CATGCTTGTA
3050
CCAGCACAC
A
CATGCTCAAA CAAAGCCAAG TTGCACACTC CAGCATCCAC
3100 |
var(3060):[G:0.01]
ACTCCCACGT GCACAGGGCA CTACACACAG GAGGGAACCA TGCCCCATGC
3150
TCCAAGAATC GTGTGATGGA GGCTGGGGAG GTGGGGAGTT GCAGAATAGC
3200
TAAAGTCTTT TTTTTTTTAA TTTTCTAGTT CCTGTTAGTG TAGTGACTGA
3250
CTAGCGACCT CACGCTCCTG GTGCCCAGCT AGGTCCAGGA TTTCCCAACA
3300
GTCATCTGGA GAACACACTA TTGGGCTTCC ATCCCTCCCT GTACCCAGCT
3350
GGGACACCAC CTCCTGGCCC CCTCAGCTGC TGCCACTCCA CCTTCCTCTC
3400
AGCCTCCCAG CTCAGGTATC TGCCACAGAA TCTGCCCAGT CC
C
TGGTGTC
3450 |
var(3443):[:0.32]
TCAGCTTAGC ACTACCCTGT GGTCTAGG
G
G GAGGCTGAGC CACCACCTTC
3500 |
var(3479):[C:0.10]
TCCCTACTGC AGTTCTATCC AGGGGCGAAG CTCCCGTTGT GAGAAAAGTT
3550
GGGGAAGGTT TGCACCCTGA CTCGCTGGTG CCTCCCAGCC CCTAGGTTCT
3600
TGGGTGTGTC CCTACTCCAC CTCCAGGGGA CTTCCTCCCC CTCAGTTCTG
3650
CTCCTTCCCT GCTTCTGGGT CTCTCTGTCC TGGACCCCTC AGA
C
CCAGAC
3700 |
var(3694):[T:0.01]
CTTTCAGAAG AGGCAGCTTG CTTCCAGTGT GTCCCCCTCC CATGGTTTGG
3750
GCATGTCTGT ACAT
C
TTAAA CCATCCTCCA CTCTTAACCA AGTCTGGCAT
3800 |
var(3765):[G:0.27]
TTTGCTTTTT TTTTTTTTTT TTTTTAAGGA GGTGGTGGGG TGTTTGGGTG
3850
ACTGCTTGCC TTAAATAGAA TTCAATAGAG TTCTTCTCAC TGTCTGCCCT
3900
TTCACTGAGT TTGTTGGTTG AAGAGAGAAG AATAAGAAGT GCAGGTGGGG
3950
ACAACCAGGG GAAGATTGGC AATCAAATGC CACCCCTGCA GGCCTGCTGC
4000
CCAGAAGGCT ATGGTGAGCA GACTGCATGC TTCTGGAAAA GAATTCTGCT
4050
TTGGGTTTGA ATTTTTAACA GCCATGATGG GCTTTGGGAT AAAGGCTTGT
4100
TCCTGTCTTC TGAGCCCCAA ATAATGCTGT TTACTCTGGG CTTAGTGGCC
4150
CCCACATACC CTCCTTTCCC CACTCTCTGG CTAA
G
AGGCA ACAGCCAGGT
4200 |
var(4185):[A:0.09]
TCTCATGGAG TGAAAACTGT TGGTGACCTA GAGTCCAGAG TCTGGGGACA
4250
CTGCCCTGGA TT
G
GGGAGCC AGCCCACTCC CGCCTTGTCA GAGGGAACAC
4300 |
var(4263):[A:0.03]
GCACGTTGTC CCCTCCATAT CTGTGGCTTT CCAGAGCTCC AAGAATCACC
4350
ATGGTTCAGG AGCTTCATCC TCTCTTCAGC CAGAGCTACT TGGACCACAG
4400
AATCCTGTCA TTCGGAAGGT CAGAGGAGAA TCAGAGGCTT TGTGTCTTCA
4450
TGTTCTGCCT GCGGCCTGCT CTCTCCTTCC TGTGTAACTC AGAGACAAAG
4500
ACAGTCAGGC TTAACCTGAG AGATGAGCCC TTTCTGACAC AATGAAGCTT
4550
TGAGCTCCAT CCTGCCTATA GCTGGAAGCT GAGGGGGGCT ACCTGGGATA
4600
GCAGAGAATG GAAAAGGGAA CAGGGGCACT CAATATCTGG AGT
C
C
T
T
A
T
T
4650 |
REPEAT
T
T
T
G
T
A
G
A
T
C
A
G
G
A
A
A
T
G
A
A
A
A
T
G
T
A
A
G
T
G
A
C
T
T
G
G
C
C
A
A
G
G
A
C
A
C
C
A
A
G
4700
T
G
A
T
T
T
C
T
G
G
T
C
A
G
C
T
G
G
G
G
T
T
A
G
A
A
T
G
C
A
G
C
T
G
T
C
T
T
T
A
T
T
A
C
A
G
A
T
C
A
4750
A
T
T
G
C
T
C
T
T
T
C
C
A
T
T
T
T
A
C
T
T
C
T
C
C
C
A
G
AA AGCCGATCCG CTGCAAGGCA
4800
CACTTAGCCT ACTTGTAAAG CTTCCCAAAG GGCTGCAGCC TCTCTTCTTG
4850
TTTGTCTTTT GTGCCTGCAA GAGAAGAGAT GGGGCCAGGT ATGGTAGAGT
4900
GAAGAGGATT GGGGTCCAGT TCTCACAGGG AGGAGAACTT GGGGTCTCAT
4950
GAGGAAGAGA GAAAAAGATG AGGGGCAGAA AAAAGAGGCT TGGGGGAAAC
5000
TTGGCCAGAA GGACCAGAGG CTGGGCCCAG GGCAAGACTG AAGAGCTTGG
5050
CATCCTCCTG CGGGTACCAG ATGTCAGGGG ACCCATGCAG GGGGCAGGGG
5100
GATTCTAGCT GCAGCTGGGC AGAGCAGGTG GGGCATATGG GCTTCCTCCA
5150
AAGCTTCAGG CCTCCTCTCA CAAACCCAAG AGGGTCAGTA CCCATTCTCC
5200
CCAGATCAGC ACTCAGCCCT TCCCCTGACA TCTTCTGGCT GGGGAACTCA
5250
AACTCATTGA GAGGGTGATG GAGGGGCTGT AAACTACATG AGCACTCCCA
5300
AGGTTGGACC CACCTTCCAC TGAGGAGGGG AGTGGGAGAG GAGAGGGGTG
5350
AGAACTGGCA GACAGTGGGG AGAAATGGAG AAGAGGGGAC GGTGGCCATA
5400
CAGATGCCCA CGTATGCCCT TTGGGTGCAT TCTACACAGG GGTAGGGGCC
5450
CAGGAGGACT GAATGCCTGT GGGTCTTGAA ATCTATAGAC TGCTGGGAAG
5500
ATGCTGGAAA ACAGGCACCT GCGTGCACAC ACACACAATT GCTCTGGAAC
5550
ATCACTGTCA TGTATTGATT CATTTTGACA CAAAATACAC CATGCATACA
5600
TTTATGTCAA ATAACGTGCA C
A
TGCATATC TAGATGGTAA AACTGGCTGC
5650 |
var(5622):[G:0.03]
G
TGGTGTGGC TGCTCATCAC CTCTGCCTCC CTGTGCC
C
T
A
TTTTCATCTC
5700 |
var(5651):[A:0.11]
|
var(5688):[A:0.09]
|
var(5690):[G:0.01]
CAACTCAGCC CTTCAACCAC CCTGCTCTTG GATCTTGCCC CCAGATCTTG
5750
CTAAGGAAGC GTGTGGAGTG TGAAGCTCCT TGGGCGCGGA GGCTCCGTGG
5800
GGCCAAGGAC TGGGAGGTAG GAAATGAGGG CTTGAAGCCC CAGGG
A
TGGA
5850 |
var(5846):[G:0.01]
GCTACAACGA GTGATTGG
G
A TGAGAAAAGG GATCCGGGAC TAAAGTCACT
5900 |
var(5869):[A:0.01]
TTCTAGGGAA AGGTGCATGG CAGTTCTGCA ATAAATTAGA CCTCTTGACC
5950
TATGAAAGTT GAAGTGACTT CGTGTGCATT GGGACCGTGG GTGAAGCATA
6000
TTTCTTCAGA TGCGCTGGAT GTTTGAGTAC AAAAGGACAT TGGAGAGTTT
6050
CAGAACAAAG TGCTTCCCAG GGAACTGCAG AGCCAGCGCG ACAGTCAGAT
6100
ACCTCCAGTC AGGCAC
C
GCA GCAGCGTACC GCGCCCCCAT CCCTGGGGTG
6150 |
var(6117):[T:0.01]
GGAGGTGTAG GGGGTAGGGT GTGTGTGTGT GTGTGTGTGT GTGTGTGTGC
6200
GGTGTCTGTA GTGTGTGTGC ATGATGTG
T
G
T
G
G
T
A
T
G
T
G
G
T
G
T
G
T
G
T
G
C
A
6250 |
NOT SCANNED
A
T
G
T
G
T
G
T
G
G
T
G
T
G
T
G
A
C
G
C
A
T
G
T
G
T
G
T
G
T
G
G
T
G
T
G
T
G
T
G
T
G
G
T
A
T
G
T
A
G
6300
T
A
T
G
T
G
C
G
G
T
A
T
G
T
G
G
C
G
T
G
T
G
T
G
T
G
G
T
A
G
G
T
G
T
G
T
G
C
T
G
C
A
T
G
T
GTGTG
6350
CTTTGTGTGG GGGTTGCATG GTGTCTGCTG TGCATGTGTG TGTGGTGGTT
6400
GTGTGTGTGT GGTATGTAAG TGGTGTGTAT GTGTGGTATG GGTGGTGTGT
6450
GCTGCCTGTG TGTGTGCTGC ATGTGGGTGT GGTGTGTGTG GGCTGTGTAG
6500
TA
T
G
T
G
G
T
G
T
G
C
A
T
G
T
G
T
G
T
G
T
G
G
T
G
G
T
T
G
T
G
T
G
T
G
T
G
T
G
T
G
T
G
G
T
A
T
G
G
6550 |
NOT SCANNED
G
G
T
G
T
A
T
G
T
G
T
G
T
A
T
G
T
T
G
A
T
G
T
G
T
G
T
A
T
A
T
G
T
G
G
T
G
T
G
T
A
C
A
T
G
T
G
C
A
T
6600 |
REPEAT
G
T
G
T
G
T
G
T
G
T
C
T
G
C
A
T
G
T
G
T
G
T
G
T
G
T
C
T
G
C
A
G
G
T
G
T
G
T
G
T
G
T
G
C
G
T
G
T
G
C
6650
A
T
G
T
G
T
A
T
G
T
G
T
C
T
G
C
A
G
A
T
G
T
G
T
G
T
G
T
G
T
C
T
G
C
A
G
G
G
G
T
G
T
G
T
G
T
G
C
C
T
6700
G
T
G
C
A
T
G
T
G
T
G
T
G
T
C
T
G
C
A
G
G
T
G
T
G
T
G
C
G
A
G
T
G
C
A
G
G
T
G
T
G
T
G
T
G
T
C
T
G
C
6750
A
G
G
T
G
T
G
T
G
T
G
T
G
T
A
T
A
G
T
A
G
G
A
G
A
G
A
G
T
G
T
G
T
G
C
A
G
G
A
G
T
G
T
G
T
G
T
C
T
G
6800
T
A
T
G
T
G
T
G
T
G
T
G
T
G
T
G
C
A
G
G
G
G
T
G
G
G
T
G
T
G
C
A
T
G
T
G
C
G
T
G
T
C
T
G
C
A
G
G
T
G
6850
C
G
T
G
T
G
C
G
T
G
T
G
T
G
T
G
T
C
T
G
C
A
G
G
A
G
C
G
T
G
T
G
T
G
T
C
T
G
C
C
A
G
G
A
G
T
G
T
G
T
6900
G
C
A
T
C
T
G
C
A
G
T
T
G
T
G
T
G
T
G
C
A
G
C
T
G
C
C
T
G
T
G
T
G
T
C
T
G
C
A
G
G
T
G
T
G
T
A
T
A
T
6950
G
T
A
G
A
T
G
T
G
T
G
T
G
T
G
T
C
T
G
C
A
G
G
T
T
A
T
G
T
C
T
G
T
G
T
C
T
G
T
A
G
G
T
G
T
G
T
G
T
G
7000
T
G
T
C
T
G
C
A
G
G
G
A
C
G
T
G
T
G
T
G
C
A
T
G
T
G
T
G
TG TCTGCAGGTG TGTGTGTGTG
7050
CATGCACTAA CTGTCATGGG CTCCTTTGCA GGCTTTATGA GTTGGCGCAC
7100
GGCTGGTGAA CCCAGTGACT GGAACAAACT CCAAGCTGAG TGAGTAAGCA
7150
ATGCTTTTGA CCTCACTACC CCTTGCTGGT TCCATCCCTC ATGAGCAGAG
7200
AGCAAGGACA CGCCCTCCAA GAGGCCAGGG GACACTGCCA CAGGCCACAC
7250
ACTGACACTT GACATACCAC AACACATATA CCACACACAC TATACAAATA
7300
G
ACCAATACA CCCCCAAAAT ACCACACACA CTATAGAAAT ACACCAATAC
7350 |
var(7301):[C:0.11]
ACCCCCAAAA TACCACACAC ACTATAGAAA TACACCAGTA CACCCCCAAA
7400
ATACCACACA CA
G
GCAATGC ATGTACACAC ACACTACACA CACACACACA
7450 |
var(7413):[T:0.11]
CACACACACA CCCCTCACCA CAGAGACTAA GAGCAAGGGA GCAGAGATAC
7500
TATTGCACAG TGACAGAGGC AGTAAGA
C
A
G GAAAAACT
T
G AGCGAAACAT
7550 |
var(7528):[:0.89]
|
var(7539):[:0.11]
AGAAAGACAT AGGACAAATA AAAAGTGACA AAGCCAGAAA AAAACTATAC
7600
ATATACTTTT CTGGCTCTAA AT
C
A
G
T
G
G
T
T
C
T
C
A
A
T
G
G
A
G
A
A
T
G
A
T
T
T
T
G
7650 |
REPEAT
C
C
A
A
T
G
T
C
A
G
C
G
T
G
T
A
A
A
G
A
C
A
T
T
C
A
T
G
A
G
C
A
G
C
G
T
G
T
A
A
A
G
A
C
A
T
T
C
C
T
7700 |
var(7669):[A:0.04]
T
G
G
T
G
G
T
C
A
C
A
A
T
G
G
A
G
G
G
G
A
G
G
G
A
C
A
T
G
C
T
A
C
T
G
T
C
A
C
C
C
A
G
T
G
A
G
T
G
G
7750
A
G
G
C
T
C
G
G
A
T
G
C
T
G
C
T
A
A
A
C
T
T
C
C
T
A
C
A
A
T
G
C
C
T
A
G
G
A
C
A
G
C
C
C
T
T
G
C
A
G
7800
A
A
A
A
G
A
A
T
T
A
T
T
T
G
T
T
C
C
G
A
A
A
T
A
T
C
A
A
T
A
G
T
G
C
C
G
G
G
G
T
C
G
A
G
A
A
A
TTG
7850
TGCCCCAAAT GCGGAAACAT CGGGGGCACA GGAGCTC
C
A
A
A
GAGCTCCTG
7900 |
var(7888):[T:0.11]
|
var(7889):[T:0.11]
|
var(7890):[T:0.11]
|
var(7891):[G:0.11]
TGCCTCCAGC TCAGGACTGT GTAACTGTGA CCTCTCTGCC CCTCTCAGGG
7950
GCCGTCAGAG GAGGCTCTGA CACTCTGCCC TGGGGCCCCC AGGGAAGCCT
8000
GAGGACCTCA CTTTCACTTA GCATTTGAGG CTCAGCCCCA GGCAGGGAGG
8050
ACTGGTTTAA CCACCTGGTC CCCAGGTTGC CTGCTCCAGT CCTGTCCTCC
8100
C
C
C
T
CTCTTG GCTCCTGACC CCTTCGGTTC TCTTCAGGGC TTGGTCAGAG
8150 |
var(8102):[T:0.11]
|
var(8104):[C:0.31]
GCCACCACGA GGGCAGAAAA GAGGTCAGGC CATGCACTCA TCATTATGGA
8200
TAAAATCATT GAGAGGAAGA GCGACTCACT CAGAAGTCAC ACAAGTCTTA
8250
TTATTTTTGG AGCCTGGGAA AGGGAACCGG GAGAGGCCAG CCCCGTGAGT
8300
GCTCTCCCAG GATCTCCAGT CTCCCCCTCA CCACCTTCAC CCCAAAACTC
8350
ACAGCCTCCT GGGCATGCCC ACTCCTTGAC TGTGGGTTAC AGAACC
G
ATT
8400 |
var(8397):[A:0.04]
CCTCCCATGT CAGGAGGTGC TGCCCTGGGG TGGAGTGGCA CAGAGGGGGC
8450
TGTGCTAGTC TCAAGGGAGA AGGAGGTCCA C
G
GCATCCTT CCTGTCCCCT
8500 |
var(8482):[A:0.14]
GGAAACAAGC AATATGGGAT GCAGGTTTAA GATGTGAGAC TGA
G
G
C
T
G
G
A
8550 |
REPEAT
C
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
A
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
8600 |
var(8575):[C:0.09]
|
var(8600):[T:0.19]
G
G
A
C
C
A
C
A
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
T
G
G
T
G
A
A
A
C
C
8650
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
A
G
G
C
G
C
C
8700 |
var(8652):[C:0.33]
|
var(8653):[A:0.05]
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
C
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
8750 |
var(8718):[A:0.01]
G
G
A
G
G
C
A
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
C
G
8800
G
A
T
G
A
C
A
G
A
G
C
A
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
A
TGCGAGACTG
8850
AAAGTGATTG GTGGGGGTGC TTTCAGGAGC TTCTGGGGGT AGTGCCACCT
8900
ACCCTAGGGC CACCTTCCCT TACTGATACG ATGTTAGGTC CAAAGACCAA
8950
GAGAACATTG CAGCCAGAAG CTTATATCCT GCAAACTTGT CCTCCCCTCC
9000
CATC
C
GGACA CCCCAATTTT GAGTCTGTTG GCTGATCCAT GCACAACACC
9050 |
var(9005):[T:0.10]
AGGTGGAGGA GGCTGAGGAA GAGGAAGAGC ATTGGAAAAC AACTTTGTCC
9100
TCCTCCTATC CTCCTCCCTC CCTAAGTCTC CCTCCCAAAG CCTCCCTCCC
9150
CCAGCCTC
C
C TCCCCAGCGT AACGAAGGCC TCATTGCTTT CTCTCCTTCC
9200 |
var(9159):[T:0.02]
CCACCAGACA CTAAACTGGG GTCTTTGAAG CTAAATA
G
GT CTTTGAAGCG
9250 |
var(9238):[A:0.04]
ACAAACCACT GGCTTAATGG GCACAAAGGT CTTGGGGTTC AAGGTTTGGG
9300
TTCTAGCACC TTCCCCCAAC CCAGCCCGAA CCCACTGACC CAGGTGGGTG
9350
GGGACGAAGC TAATCCAATT GAACTGTTTG CTCAGGACTG CGTGGCCTGG
9400
CCTCTGCCCA GC
G
GCAGGAA CACAAATAGC TTTCCACTTG AAGGGGTCCT
9450 |
var(9413):[A:0.10]
T
C
T
CTCCCCT GCCCTACCTC AGCATCCACC TCCCTCCACA CACCGACTCC
9500 |
var(9451):[:0.06]
CCCC
A
CACAC AGCACATATG ACACACACCC CATGACATAC ATACACACAC
9550 |
var(9505):[C:0.05]
AACACACACC ATACATACAC ACATAGTAAA CCCACCATAC ACTACACAAA
9600
TCATG
A
A
T
A
C
TATACACCAC ACACACACAC ACACACATCA TGTACACGCA
9650 |
var(9606):[:0.10]
CACATACCTT AAAGGTACCA TATACATCAC CCACTACACA CCATACACAC
9700
AACACACATG CAACAATCTT TCCACAATAC GTATATACAC AACACACATG
9750
TCACACATAC CATCACAGAC ACCACATCCA CACGCTCTAC AGGCCATACC
9800
TACACATATC ACATATATCA TACACACGTA GACACATACC AAACACACCA
9850
CAGGCACATC ATATACATAC AGCATACCAC ACACAAAACA CCCCACCGAT
9900
GCACATCATG AACACAC
A
CA TAAACACCAC ACACAAATGC ACATGGGCAC
9950 |
var(9918):[G:0.33]
ACACGCCATA CACACGCCAC ACACACACTC CCCTGGCTGG GTCTTCCAAC
10000
TCTGAGTCAG AGAAAGTTAG GACAAAACAG ACTCTGAAGC TAGGAAGTGA
10050
TCCACACACC TGTGACTCTG AACACCCAGA CACCTGCCCC TAGGCTATTG
10100
GCACCTGGCT GGCACCAGGA GGTTGGATAA GCCCGGGCTT CTGCCCCTTT
10150
CCAGTGGAAA AGTTGAACTA AATGACCTTT CCGACAGCTT CCAGCAAGCT
10200
CATGATGGAG CTCTTTGTTG TGGGAAGACG ATGGGCCATG CTTAA
T
G
C
C
A
10250 |
REPEAT
T
C
A
T
T
C
T
T
C
T
G
T
A
T
G
A
C
T
G
T
G
C
G
A
G
T
C
A
C
T
T
A
A
C
C
T
C
T
C
T
G
A
A
G
C
T
C
T
G
T
10300
T
G
G
C
C
A
G
T
T
A
G
A
A
T
G
A
G
G
A
G
G
T
GT
G
C
T
A
G
G
G
A
G
A
A
A
G
A
A
G
T
G
G
G
C
T
T
G
G
A
10350 |
REPEAT
A
T
G
A
G
G
G
A
T
G
G
G
T
G
T
G
A
A
T
C
T
T
G
C
C
T
C
T
G
C
C
A
C
C
T
C
T
A
T
G
G
C
C
T
T
G
G
G
A
G
10400
A
G
T
T
C
C
T
T
T
A
C
C
A
T
G
G
T
G
A
G
C
T
T
T
G
G
T
T
T
C
T
C
C
C
A
T
C
A
A
T
A
C
A
A
T
G
T
A
G
A
10450
T
A
A
T
A
A
T
A
C
C
T
G
C
C
T
T
G
C
A
G
G
T
T
T
G
T
T
A
C
G
A
G
TTTACCTG GGAACGCTCA
10500
GTTAAAAGGC CCAGCACACA GTAGCAGCTG AATGTCACCT CCACGGGAAG
10550
GCTGGCAGAT AGAATACTTG CAAAA
C
G
T
G
G
G
G
T
A
T
A
T
T
T
A
T
A
C
T
A
A
A
A
A
A
10600 |
REPEAT
T
T
C
T
T
T
G
T
T
G
T
T
T
A
T
C
T
A
A
A
A
T
T
C
A
A
A
T
T
T
G
A
C
C
A
C
G
T
G
T
C
C
T
G
T
A
T
T
T
T
10650
A
T
C
G
G
G
C
A
C
C
C
ACCCCATGC ACGGGGCATT GTGGACAGTC TGTGGAGCTC
10700
C
C
GAGCAGGG GGTCT
G
C
C
C
A
G
A
G
C
T
A
G
A
T
T
T
T
G
T
G
C
C
C
T
G
G
C
T
G
G
T
G
A
G
C
10750 |
var(10702):[T:0.11]
|
REPEAT
G
A
A
G
A
A
T
G
C
A
T
T
T
T
A
C
A
T
C
T
T
T
G
G
G
G
G
T
G
G
T
T
A
G
A
A
A
A
C
A
A
C
C
A
C
C
A
A
A
A
10800
C
A
A
A
A
C
C
A
A
A
G
A
A
T
A
A
C
G
T
A
C
A
T
T
A
G
A
G
A
G
T
G
T
A
C
A
T
G
G
C
T
T
G
C
A
A
A
A
C
C
10850
T
A
A
C
A
T
C
T
T
T
A
C
A
T
T
T
C
C
T
A
T
C
A
G
C
C
C
T
T
C
C
A
G
A
A
A
A
A
G
T
T
T
G
C
T
G
A
C
C
C
10900
AAAGGTGATG GGGACTGAGA GGAAAGTCTG GGAGAACTGA G
A
ATCTTCGC
10950 |
var(10942):[T:0.08]
AATTTATATA CCTATTTCAG GCCTGGCAAG AATGAAACTG GAAGAGTCCA
11000
GAAAATGGAA TTCTCCAGGA CATAAGCAG
G
GGGAGGCAGA GAGTGAGGCA
11050 |
var(11030):[A:0.02]
GGTGGTCGGC AGAAGAGGCA CTGTGGGAAA GTG
T
GGCGCT CCCTCCTGGG
11100 |
var(11084):[G:0.15]
AGTCCTCAAC ATTGGGAATG GGCCTGCCCT GACTCCTCCC CTCCTTTCTC
11150
ACTGCCTAGA GTCTCTCAGG GTAGGTCACT GGGTGTTCTG ACGTCCAAGG
11200
GAGGCCTCGC CAGTCTTTCT GAAGGCCTCC CTGGTTGTGA CTGGCCTGGG
11250
GGCAGGGAGA GAGCCCTGGG TGGAGAAAGA ATTGGAGTTG GCACAAGTCC
11300
CCCTTGGTAG GCAGGTCTGT GGCTGGCCTG TGTCTTTAAA TCTCAGGTAA
11350
TTTGGGAGGA GGGAGGGCGT GTCCGTGCAG CTTTGGCTCC TCCTGCTCAC
11400
TCCCAGCAGG AGCTCCAGAC AGGCCA
G
C
C
C TGCAGAGTCC TGGCTG
G
C
T
C
11450 |
var(11427):[T:0.02]
|
var(11429):[T:0.06]
| Exon 1 |
UTR
T
G
C
C
A
A
G
T
G
T
A
A
C
A
A
A
C
T
C
A
C
A
G
C
C
C
T
C
T
C
C
A
A
A
C
T
G
G
C
T
G
G
G
G
C
T
G
C
T
G
11500
G
G
A
G
A
C
T
C
C
C
A
A
G
G
A
A
C
T
C
G
T
C
A
G
G
A
A
G
G
C
A
G
G
A
G
A
C
A
G
G
A
G
A
C
G
G
G
A
C
C
11550
T
C
T
A
C
A
G
G
G
A
G
A
C
G
G
T
G
G
G
C
C
G
G
C
C
C
T
T
G
G
G
G
G
G
G
C
T
G
A
T
G
T
G
G
C
C
C
C
A
A
11600 |
var(11594):[T:0.01]
G
G
C
T
G
A
G
T
C
C
C
G
T
C
A
G
G
G
T
C
T
G
G
C
C
T
C
G
G
C
C
T
C
A
G
G
C
C
C
C
C
A
A
G
G
A
G
C
C
G
11650 |
var(11650):[A:0.01]
G
C
C
C
T
A
C
A
C
C
C
C
A
T
G
G
G
T
T
T
G
T
C
A
C
T
G
C
C
C
A
A
G
G
A
G
A
A
A
G
G
G
C
T
A
A
T
T
C
T
11700
M G L S L P K E K G L I L 13
C
T
G
C
C
T
A
T
G
G
A
G
C
A
A
G
T
T
C
T
G
C
A
G
A
T
G
G
T
T
C
C
A
G
A
G
A
C
G
G
G
A
G
T
C
C
T
G
G
G
11750
C L W S K F C R W F Q R R E S W 29
C
C
C
A
G
A
G
C
C
G
A
G
A
T
G
A
G
C
A
G
A
A
C
C
T
G
C
T
G
C
A
G
C
A
G
A
A
G
A
G
GTAAGGCCCC
11800 |
var(11779):[T:0.02]
A Q S R D E Q N L L Q Q K R 43
CTTGGTCTGC TCCCTTCCCC ACCTCCCCAG GCCTGCACCT CTACCCCTCA
11850
CCCCTCCCTC ACCTCCCGTC TTTGTTTGGC ACCTTTGGCT GGACAGATGG
11900
TGCTCCCAGG CCCGGACTGG CTCCTTGGGA GCATTCTGTC TTAAGAGCCT
11950
CAGCCTGTAG GGCTGGTGAA AGAGGATGGG G
T
TGAGATGG GCACAGGTGT
12000 |
var(11982):[C:0.27]
TCACTATCTT AAGATCTAAT TCGATTCTGC AAGCCTCTTG TGAGTACTTC
12050
TCTAAGGGCC AGGCGTCTTG CTGGGGCTTG TAAGGATAGA GCATCACAGC
12100
CCCTCCACCC AAGAGGGGAC GGCAGGTGAG GACAATGCCT TCTGTATCTC
12150
CACTGCTTGC CTCTAGAACA GTCTCTCTGG CAGGAACACA TAGTATAC
A
T
12200 |
var(12199):[G:0.28]
ATGTTCGCAT GGAGGAATGA GTGAACGATT GAATGAATGA AGCAGAGAGA
12250
ACCGCGGACA CCAGGAACCA GAAAATAAGA CAAAATGTGA AAAAAGTGAC
12300
CATTCCTATG TATCTGTCTC ATCAGACACT GACCAAGGCC TTACTATTTG
12350
CCCAGCACTG GGGGGATATG AAGACCTACA ACGCTCAAAC CCAACCTTGA
12400
GGTGTATTTC TCTCTCAGTG CGGGTGGGGA CTG
G
GGGGAA GCGGGTCAAA
12450 |
var(12434):[A:0.09]
ATAACAGATG TTCCGAGGAC CTGTGCTCTT C
C
GCATTCAG GTGGTGGAAA
12500 |
var(12482):[T:0.05]
TCGAGACTCT AGCGTTTAAG CCCTAAGGAC ATTCACTGGT GGCTTC
C
AGC
12550 |
var(12547):[G:0.04]
CCCTGAAAAC TTCCTAAACC CGTGTCCTGC TTTCTTCACC ATGACAGCTT
12600
GGAGTACAGA GCAGGAGAGG AGCAGGGAAT CGGAACTCAG GGCTATCCCT
12650
GCATGTGGTC TCTTCTTCAA GGTCTCTAAT AGAGTTCTCT ACCCAGTTGG
12700
TGGCATGCTA GAAGGAAGTC CTGCCTGTTG GGGCTTTCCC TGGGTCACGA
12750
AGGAGGCAGA TGTCTGGTCA TAGAGGAAAG CCTGAAGTCT TTGTGCCTTA
12800
GGGTTTTTCT CTGACCCCAA GAGTAGGAGC CTGCTTTAGC CTGACCGGGG
12850
AGGCTGCCTG GAGGCCCCTG TGTTTTCTTT TGCTGAAGGA TTCTGGGTTG
12900
GGGATGGTCT CTTTCTGTGA ATTATGGCTT CCCGTCTCTC CAGCCGCCCA
12950
CCTCTCCCCC AAGGCCTGGG AGAGTGGGGA CTGGAGCACA TGTTTGGCTG
13000
ATGACATCTT GGGGCAACAG AATGGCATTG TT
G
T
T
AGAGA GTAGGTCGTC
13050 |
var(13033):[:0.06]
CTCACTGGCT TCACTCATCC TCTTCCCACT CTTAGGACCC CAGGGCCAGG
13100
GGATCCAGGC ACAGAGTGCA AAAAGGCCTG GGGGATTGGA AGGGGTGGTG
13150
GAGATTCCCT GTGTG
C
GATA TCAGGGGAGA GCAGAGGGGA GGCCCTG
C
GC
13200 |
var(13166):[T:0.02]
|
var(13198):[A:0.24]
TGAGTGGCTG AGAATAGGCT GCTTCCGCAT GTCCTGTCTG CCCTCACTTT
13250
TCCTC
A
GATC ATATGGGGGC TGCCTCTGCA GACTTTGGCT AGAAAG
G
CTT
13300 |
var(13256):[G:0.05]
|
var(13297):[C:0.01]
GATGTCACCC TTGGGAGGGA TCCCCCCTCC CTGCCCTGAT CTCCTTACTG
13350
GCCTCCGCAC TTTCTTGGCC TTCTTCTTGC TGGATATCAG GTGTCCAGAG
13400
CAATGACTCT TCTTTGGGTG GGCACTTCCC AGAAGGATGC TGAAATTGCC
13450
TGCAAGGGGA GTTTCCTAAT CTGTGCCGTC AACCAAAGAG AAGGCATGGG
13500
GGCATTGAGA TAAACATGGG ATGACTAAGT AAATAGGAAC AATATGGACA
13550
AGTGAGGGGT GAGCTAATGG AAGAAAGGAG CACACAATGA TTGAGAACCC
13600
AGTGCTGTAC TAGGTACTAC CACCTGCCTT ATCTC
C
GTCA TCCCGGTAAC
13650 |
var(13636):[T:0.28]
AATAATGGAA GGTGGGTCCT GTTATCCCCC T
A
TGAATGGG GCAGGCCCAG
13700 |
var(13682):[G:0.06]
AACCCTAGAG CAAGTAAATG GTGAAGTTGA ATTTGTTCCA AAGGGGACTC
13750
ACAGGGAGAA CTGTGGGGTG GGATTGCGTG GGATTCCATG CGGTACAGGA
13800
TGGTCTAGTG AGAAAGGAAG GCTTTGAGTC TCTCCAGGAT GATCGGGAAC
13850
CCAAACTCCT CTTTTTACAG TGGACGTTTC TTGGTGCTTA GCACGCAGCC
13900
CGCTCTGCTT AAATCTACAT TGCTGGGATC CAAGTCGAGC TCTCAACTTT
13950
CTCCCGTGTC CTCCAGGTCA TCTCCCCCTT GGGCTTGGGT TTTCTCACTT
14000
CCTGATATTT AATGCATTAC ACATTTATTG AACATAAGGC ACTCCACCTT
14050
TCTGCAGAAA ATGAATATGA CACTGTTCCT GCTCTCAGGG AGTTCTCATT
14100
CCTATGACCA AAGTTTACTG AAGGCACATA CGGGGCTAAA GATGGGCTTA
14150
G
T
AGACATCA CTAGAAGGGT GTAAATGAGT GTTCTGGAAG C
A
TAGAGGGG
14200 |
var(14152):[A:0.02]
|
var(14192):[G:0.01]
GAAGTGTGAG ATCTGATTTC GGCTGCTGTG GGGTGTCCTG GGCAGCTTCA
14250
TAGAGGCTGC TTAACCTGAA CCCCACTCCA GCCCATGTGC TGGCACTTTG
14300
TCATCTAAGG AGCAATTTGG AGGGAAGGTG ATGCTTGTTG GAGCTTTTTT
14350
TAGGGTTAAA TACCTGTATG AAATGTGTGA ATTGAGTGTC TGAAAAGTCA
14400
TCCCTGGGTT TCTCTGGTAT ATTGTGCA
C
G CTTGCCTTGG TAAATACTTA
14450 |
var(14429):[T:0.22]
CACAC
A
TGCC TACTTGTAAA TGCGCAAATA GACATGTGCA CAAAAGGAGC
14500 |
var(14456):[G:0.06]
TGTGGCACTT AGGATGGCAG CCGATTCCAA ATCTCTAAAC AACCACTTTG
14550
GCTTTCTCAT CCCCATTGCC AGGAACATGA GCTGGAGGGA GGTGGCCCAC
14600
AAGTGCCCAA TGTATGCCTC CGCCCCACAC ATTACCGCTC TTTCCTTCAT
14650
CTGTGGTCAC TGCTCAGGCT TGCCCCCCAA CCTCCAAGAA AAATCAGGAG
14700
GAGCCATAAA ACTAGAAGAA CCACATAATT TAGTGGTCA
G
A
G
C
C
T
G
G
G
G
C
14750 |
REPEAT
T
G
G
A
T
T
C
T
T
G
G
C
C
A
A
G
C
A
T
C
C
T
G
C
C
T
T
T
A
A
C
T
C
C
G
T
G
T
G
A
T
C
T
T
C
T
G
G
C
A
14800
A
T
G
A
T
T
T
G
G
T
T
A
T
G
C
C
G
C
T
T
C
A
G
T
T
T
C
C
T
T
T
T
C
T
G
A
A
G
C
A
T
G
G
G
A
G
AACT
14850
A
TTCAGCTGG TGTTAGA
A
GG TTGTAAAGAG CAAAAGTGAT AATGAGTGAG
14900 |
var(14851):[T:0.02]
|
var(14868):[G:0.28]
ATGCTGCGGG AATGAGAGGG GCCATGAACT TCCCC
T
GCAC AGCACTGTAT
14950 |
var(14936):[C:0.28]
CCACCCAGGA ATGCAAGAAG CCACGCACTC CGAGCAACCC TGTT
A
TGTAC
15000 |
var(14995):[G:0.28]
CAGCCCCAGC CCTGCCCAGA GGG
T
ACACTC ACTGGTGGGA AAGGTATTTG
15050 |
var(15024):[C:0.28]
TGGAGAGACC AGTGGGACCC ATGCCTGTCT TCTCTAACTC CTCTTCCAGC
15100
CCTGATTAAA ACTGAGAATC GTGACCAAGA AATGACCAGT GGGGCATGCG
15150
TCGTGGCTCT GTCTCTGACT TGCTTCCTCC ATCTGTTTCA TGAGCAGATT
15200
TGACTCA
G
TT
T
CTGAGGGGC TTTCTAGCTC TAAAAATCTT ATTTGAACTT
15250 |
var(15208):[A:0.28]
|
var(15211):[C:0.24]
TTCTCAAGAG TCTTGTGATC CTGCCTTGTT TCTCAGCACC TAAAAACCAA
15300
ATTGGACCCA TGCACACAGT GCACACATCT ACAAGGATGG AGGAGCAGAT
15350
GAGGGTGTGG GG
C
GGAGGAG ACGGAGAGAG GAAGTCAGGA ATCCTTCCCT
15400 |
var(15363):[T:0.27]
GGTGGCCCAG AGGCAGCCCT GAGAAGGAGG TCATTGATCT GTTTGCTCAA
15450
GAAATAATGT GCTAGATTTT GTGCCAGGAA CCCCTTAGTT GGGTTTTCAC
15500
CAGGCTAATG TTGAACTAGA CCGTTCAATT TTATTATAAT TAATTGCCTA
15550
GTAAAAGAAA ACATTCTAGA ACCTGAAAAT ACCTTTCATA TTGTTACAGT
15600
TTCAGATTTG CTCTATAATC TCTTTTGACT ACTTCATCAG TGGGAGCTTA
15650
AAAG
G
CTTCA TCTGACTTTT TTTTGTTTCT CCCTTAGTTG AGTATTTAGT
15700 |
var(15655):[A:0.04]
GATCCATAAG AAAACATTTT TATGTATAGG ATATTTCTGA TTCCTTTT
C
G
15750 |
var(15749):[T:0.03]
A
G
TGAAGAAT CCTCATTCTA AAACGGATTA TGAATCATTG TACCTCTGAA
15800 |
var(15752):[C:0.03]
T
C
A
G
G
G
G
T
T
C
T
C
C
A
C
C
T
T
G
G
A
C
T
A
T
T
G
A
C
A
T
T
T
T
G
G
A
C
A
G
G
A
T
A
A
T
T
C
T
T
15850 |
REPEAT
T
G
C
A
G
T
G
A
G
G
G
C
T
G
T
C
A
T
G
T
G
C
A
G
G
G
T
G
C
T
T
A
G
C
C
G
T
G
T
C
C
C
T
G
C
C
T
T
T
G
15900 |
var(15885):[T:0.03]
A
C
C
C
CCGTGT TGTGATCTAA ACTCCTGTGA TAAGTTGCTA TTGAAAAATC
15950
TATTTGTCCC CCAAGCACAG GAATCTTTGA GTAGGTCAGC TCTGTGCACC
16000
TCCTTCAGGG ACCCAAGGAG AGTCAGGTGT TTTGGGGTCA GCCTTACTCC
16050
CAAGCAGGTG AGCTAGGGCT TTCTGTGCTG TCCCCTTGTG GGCATATGAG
16100
GTTATTGCAA GTAATGGCTG GGCCGGATAC CTTCAAAACC CGTCCACAGG
16150
CTGGGCCCCC CTTTTTGCTG GAGTCTGGAG TTCACA
C
TCG GAGGAGGCTA
16200 |
var(16187):[G:0.30]
GTTCTCTACA AACCTTGCTG GGTTGGGTCA TAAGCTGGCT CTTCA
C
GCAG
16250 |
var(16246):[T:0.03]
GGTGTGGTCT GGCTA
G
G
T
T
G
C
C
A
G
A
T
A
A
A
A
T
G
C
A
G
G
A
C
A
C
T
C
A
G
T
T
C
A
A
T
16300 |
REPEAT
T
T
A
A
A
T
T
T
G
A
G
A
T
A
A
C
G
A
A
T
A
G
G
C
T
G
C
T
A
G
T
A
T
A
A
G
T
G
T
A
T
C
C
C
C
A
A
T
A
T
16350
T
G
C
A
C
G
T
G
A
C
A
T
A
C
T
T
A
T
A
C
T
A
A
A
A
A
A
A
A
A
T
T
G
T
G
C
A
T
C
T
G
A
C
A
T
T
C
A
A
A
16400
T
C
T
A
A
C
T
G
A
G
C
A
T
C
C
T
G
T
A
T
T
T
T
T
A
T
T
T
G
G
T
A
A
C
T
C
T
A
G
C
A
A
C
T
C
T
GGGT
16450
CTGACAGTAG CTTTTTGTTT TCCCCAGGCC ACTAGAGTGT CAGAATTCAT
16500
AGGGAATGGA GGTTTATGGG GGACACTTTC AGCTTCAGAG ACGTGTAGGG
16550
ACCAAAGGGG AATCTTTGAG CCTGCCACTG ACTATACCAC CACTAACATC
16600
TAGGATACAG CGAGTAGAAC TCTGGACTTG GAAAAGGTGC TCTCTCGGAC
16650
CCATTTCTAG ATTTGCCATC AATCTTTCAC ACATTTGGTC AAAATGGGAC
16700
ACAAACGTGG AAGCATATTG GAGGAGGGCA GGGAAGAGTT AGTGGCTGGT
16750
CTCTTCCCTC GAGTACCCTT AGCATAGAGG AAGGGACACA GATACATAGC
16800
AATTACAGCA CCCAGTGAAA GATGCTGAAA TAAAAGTAAG GCCACAGGAG
16850
AGAGTGAAGA ACTTCTGAGT GTCTGTGTGT GTGTATGTGG TGCTAGCGAT
16900
TGTTTTCCCC TCAGTCTAGG GTATC
T
AGAG AGGAGGGCTT TGTGCAAATG
16950 |
var(16926):[C:0.23]
GTTGATGTGG TGGTGGTGAT GGAGGGAATG TGGAAAACTT GTTTTGAAGC
17000
TGTGTTTGCA TACCAAGTGT ACTATTTTTC ACTTATATGC TTGCTGAAAG
17050
TTGGCTTAGC GGGCAGCTGA TGAAAATAAT AATAACAGTT AATTCAAACC
17100
ACCTTTTGGC ATTGCTGCTG
A
T
T
C
A
T
T
C
A
C
T
C
T
A
C
A
G
A
T
G
G
T
G
T
C
A
G
T
G
A
17150 |
REPEAT
G
C
A
T
C
T
A
C
A
C
C
A
T
C
C
T
A
G
G
T
G
T
A
T
T
T
C
T
A
G
G
C
A
T
A
G
G
C
A
G
T
G
C
A
G
A
A
G
A
C
17200 |
var(17164):[T:0.28]
A
C
A
A
T
G
A
A
C
A
A
TTGGCGGGC TGGGGGAGTT GGATTCTAGA AGGAAAGAGC
17250
TTCATGGGCA CAGACATAGG GAGAATGGTG TGCTCTGCAG TGCTGAGACA
17300
GGATGAGACC AAAATGCCAG GTCTAAGGAG TGGGTGGGA
C
GTGCAGAGGG
17350 |
var(17340):[T:0.03]
TGGAAAAGTA GTTGCACAAA GACCTTAAAG AGCTTCTGTG TTCCTTATCC
17400
TTAGCATTTT GCTAAT
C
TGG GCTAGAGAAT GAAGACTTGA ATTAATGAGG
17450 |
var(17417):[G:0.03]
GTTAGCAGGA GCAAGGAGGT AGGGACTGAA TGAAGAGAGA GCTTTCCATG
17500
CTGAACTGAC AGGACCTGGT GGCAGCTGCT GTGCATGGG
G
GCAAGGCAGA
17550 |
var(17540):[C:0.26]
G
GAGATGAGT GAGCTGATGT CTCCTCTCTG ATTGCCCTCC CACCTCC
A
GC
17600 |
var(17551):[C:0.02]
|
var(17598):[G:0.05]
TCTGGAGTCA ATTTCTTGCC ACTGCCAGCG CTTTAGAATG TGAGCTCCTG
17650
TCTATGTCTT TTTGTATGTC ACATAA
T
TGT CAAACTATGG ATAAATAGAG
17700 |
var(17677):[C:0.26]
TTATTTCATT TACTCCCATA GAAAGACCAA ATGGCTCCAG GCCAAGAGAA
17750
AATTGAATCA AAGGGACCCA TGTGTCTTAG TTGGG
G
TAAG TTCTAATTTT
17800 |
var(17786):[A:0.01]
AAAAGAGATT TTTAGCACAC AGTAGGTATA AGAATAAAGA GATGATCTGG
17850
GGATTCAGAG AAGATAATTT TGCCTAAAAC AAGCGAGAAG TGGATAATAA
17900
GGAGAGACTA ATCTGACTCA GCAAAATAAA CGGATCCATG AATCCCAAAT
17950
TGGGTAAATC CA
A
GAAG
G
GT CCGAAGACAG AATGGGAACA TTCAGATGCA
18000 |
var(17963):[G:0.02]
|
var(17968):[C:0.07]
CATGAAATTC GATGAATGAA TCCTCTAGAT TGGATTCTCT TTTTTCTCTG
18050
CATCTGTCAT TGTTGGCCAT AGTTTGTGTC TTAGGGGCCA ATAGCCGAAA
18100
CAAAGTAGTA
T
CTAAAGCCC TCTAGACAGC TGGTCTGAAA ATGATGGAGA
18150 |
var(18111):[C:0.27]
ACACTGTTTC
G
CAAACTTTA ATGTGAGCTG TTTGGAAACT GAGACCCCTG
18200 |
var(18161):[A:0.05]
AGCTTGTCTC TGATTTATCG CCACCGGTTT TTGCATGCAA GGACCACTTA
18250
AG
C
A
A
T
G
C
T
T
C
T
C
C
A
A
C
T
T
T
C
A
T
A
T
G
C
C
C
A
G
G
A
A
T
C
A
G
C
T
G
G
A
A
A
T
C
T
T
C
18300 |
REPEAT
T
T
A
A
A
C
T
G
C
A
G
A
T
T
T
G
G
A
T
T
C
A
C
T
A
G
G
T
G
G
A
A
G
G
G
T
C
C
G
C
C
A
G
A
G
C
A
T
T
T
18350
C
C
A
T
T
T
C
T
T
A
T
A
A
G
G
G
C
T
C
A
T
G
T
G
C
T
G
C
T
G
C
T
G
A
T
C
C
A
G
G
G
G
T
C
C
A
C
T
T
T
18400
A
A
G
A
A
GGAAG GCTGTTGAGA TGATGTGAGA AGAAAGA
C
GA GAGGCAGA
A
A
18450 |
var(18438):[T:0.02]
|
var(18449):[C:0.02]
GGAAGAGACA GAGATAA
T
G
A
A
T
G
A
A
TGAAT GAATGAATGA ATGAATGAAC
18500 |
var(18468):[:0.77]
ACCTATGAGG AAGGAA
G
GCC TGGAGCCAGG CTTGTTCTTA TGGTCCACTG
18550 |
var(18517):[A:0.23]
TTCTTTTGTG TTAAGCCCTG AAGATGCTAT TGTTGGGAGG GAAGCGCCAG
18600
GATCAAAGGG TTCTGCTGAG AAGGTT
G
AGT AGGCAGAGGA TGGTGCAACA
18650 |
var(18627):[A:0.24]
GGAGAAATCC TGCTAGCCTG TGCATATGAC TCCCTCCACA AATATGAGAC
18700
AGGAATTCCT TGCACCCCTC GGTCCATGCA AAACAAGGCT TATCCTGGAG
18750
GGCAATCTCA GGGCACCTGG TGAGGGTCAA ACAGGACCAC TCCAGGGGTA
18800
AACTGGTTAG CAGGTAAGCA CATGTCTACA TAGAACTCCT CCCCTCCGTA
18850
CCTGAAATGC ACTGATAATA CATTCACACA TGATACATTC TGGTCCCAGG
18900
ACCCGGTAG
C
GGGGAA
T
GAA ACCAGTCACG GACAATCTCA AAACGCATGC
18950 |
var(18910):[G:0.30]
|
var(18917):[G:0.30]
TAAATGGGCA AAAAGTTGAT TGTATTTACT GACTGTAAAG AGAAAAGACA
19000
TCAATGGCCC CACCTGCCTT GATTGAAGAC CCTGAGGTTC CTGCTGCTGA
19050
GGCACACACA TCTGTGTATA ATAATGGAGT CAAGCCAGGG CCTCTCCCTC
19100
CACAACTAGG TATGCTCACT GTTTCCAGCT TTCCTATTCC ATCCCTTCAT
19150
AG
G
A
T
C
T
G
G
G
A
G
T
C
T
C
C
T
C
T
C
C
T
T
C
T
A
G
C
T
G
C
C
A
A
A
G
A
T
A
A
T
G
A
T
G
T
C
C
A
19200 | Exon 2
I W E S P L L L A A K D N D V Q 59
G
G
C
C
C
T
G
A
A
C
A
A
G
T
T
G
C
T
C
A
A
G
T
A
T
G
A
G
G
A
T
T
G
C
A
A
G
G
T
G
C
A
C
C
A
G
A
G
A
G
19250
A L N K L L K Y E D C K V H Q R 75
GTAAGAAGCA CAAATGCAGC ATGATCTCCT AGGTGAGCCC CACACATGGG
19300
GCCTCCCAGG AGTGCCCAGG ACCTCGTGC
T
GTTGGCCTCT GAATCTATCG
19350 |
var(19330):[C:0.01]
TCTCCAATC
C
GCTGTCCCAC AGAAGCCATA TAACCCACCT CTCTGTAAAT
19400 |
var(19360):[T:0.01]
GCCAG
G
A
G
C
C
A
T
G
G
G
G
G
A
A
A
C
A
G
C
G
C
T
A
C
A
C
A
T
A
G
C
A
G
C
C
C
T
C
T
A
T
G
A
C
A
19450 | Exon 3
G A M G E T A L H I A A L Y D 90
A
C
C
T
G
G
A
G
G
C
C
G
C
C
A
T
G
G
T
G
C
T
G
A
T
G
G
A
G
G
C
T
G
C
C
C
C
G
G
A
G
C
T
G
G
T
C
T
T
T
19500
N L E A A M V L M E A A P E L V F 107
G
A
G
C
C
C
A
T
G
A
C
A
T
C
T
G
A
G
C
T
C
T
A
T
G
A
G
G
GT GAGGGCCCAC GGGTCTGG
G
G
19550 |
var(19549):[A:0.10]
E P M T S E L Y E 116
TGAAGAGCAG GA
G
TGACTGG TTGGGTATTT CAAGTCAGTC TCTGTGATGG
19600 |
var(19563):[A:0.24]
ATAATTTGGG AAAGACACAG GGGATCTGAG CCTCCTACTC TTTTTTTCTC
19650
TTCTCTGTCT CCCTTCCGTG TCAGTCCTGA CTGCCCATCA CT
T
GAACGCC
19700 |
var(19693):[A:0.30]
TGCCCCCTGA AATGCCAGGG GCCTAGAGAA GAGGAAGAGA TGGGCAGCAG
19750
CTGGATCCCC TGGGAATCCT GAACACCCGA G
A
GCTCCCTG TTCTCCATCC
19800 |
var(19782):[G:0.24]
CAGGCTACCC CTGAGGGAAA GAGACTGGGG TGCATATGGG AGGGACCCCC
19850
TGCAGGATCC TGGG
G
ACAGA CCCGTGACTG ACAGCTGTCT CTGGGCCAG
G
19900 |
var(19865):[A:0.26]
| Exon 4
G 117
T
C
A
G
A
C
T
G
C
A
C
T
G
C
A
C
A
T
C
G
C
T
G
T
T
G
T
G
A
A
C
C
A
G
A
A
C
A
T
G
A
A
C
C
T
G
G
T
G
C
19950
Q T A L H I A V V N Q N M N L V 133
G
A
G
C
C
C
T
G
C
T
T
G
C
C
C
G
C
A
G
G
G
C
C
A
G
T
G
T
C
T
C
T
G
C
C
A
G
A
G
C
C
A
C
A
G
G
C
A
C
T
20000
R A L L A R R A S V S A R A T G T 150
G
C
C
T
T
C
C
G
C
C
G
T
A
G
T
C
C
C
T
G
C
A
A
C
C
T
C
A
T
C
T
A
C
T
T
T
G
GTG AGAGCAGGGC
20050 |
var(20019):[C:0.26]
A F R R S P C N L I Y F 162
TGGGCTTGGA GGACGGGCAG TTGGAAAGGT GGGCAAGGCA GGGCAGGGCC
20100
AGGCAGAGGA GGATCCTGTC TTCAGC
C
GTA TCTGTTGGGC AGCTGGGAGG
20150 |
var(20127):[T:0.02]
AGCAATCCTT CTAGGGCTTA ATTAGACTAG AGGCCAATTT ACCCCACGAC
20200
CCTTCCTCTG GTTCTGCAGG AAAAGTGTCC TCAAGCCCTG AGCTGAGATG
20250
TGGGGGAAGA TAAGGCTGTC ACTTGGGGGA GACTGTCCAC CCCATCCTGC
20300
CATCCTGCAC TCTCCTACCA TAGATCTCTC TGTGTCCACA G
G
G
G
A
G
C
A
C
C
20350 | Exon 5
G E H 165
C
T
T
T
G
T
C
C
T
T
T
G
C
T
G
C
C
T
G
T
G
T
G
A
A
C
A
G
T
G
A
G
G
A
G
A
T
C
G
T
G
C
G
G
C
T
G
C
T
C
20400
P L S F A A C V N S E E I V R L L 182
A
T
T
G
A
G
C
A
T
G
G
A
G
C
T
G
A
C
A
T
C
C
G
G
G
C
C
C
A
G
G
A
C
T
C
C
C
T
G
G
GTAAGAGCTG
20450
I E H G A D I R A Q D S L 195
AGATGGGGAG GGGAGCTGGG ATGCTGCAGG GAGTGAGGGA CAGGGTGAGG
20500
AGAGGGGCTG GGACCTTCAG GAAGACCTCA GGGTGGGGAT GGGGACATCA
20550
GGGACTTTAG GCCAGTGGCC ACATGATACC CTGTGTCCTC CCCAG
G
A
A
A
C
20600 | Exon 6
G N 197
A
C
A
G
T
G
T
T
A
C
A
C
A
T
C
C
T
C
A
T
C
C
T
C
C
A
G
C
C
C
A
A
C
A
A
A
A
C
C
T
T
T
G
C
C
T
G
C
C
A
20650
T V L H I L I L Q P N K T F A C Q 214
G
A
T
G
T
A
C
A
A
C
C
T
G
T
T
G
C
T
G
T
C
C
T
A
C
G
A
C
A
G
A
C
A
T
G
G
G
G
A
C
C
A
C
C
T
G
C
A
G
C
20700
M Y N L L L S Y D R H G D H L Q 230
C
C
C
T
G
G
A
C
C
T
C
G
T
G
C
C
C
A
A
T
C
A
C
C
A
G
G
G
T
C
T
C
A
C
C
C
C
T
T
T
C
A
A
G
C
T
G
G
C
T
20750
P L D L V P N H Q G L T P F K L A 247
G
G
A
G
T
G
G
A
G
G
G
T
A
A
C
A
C
T
G
T
G
GTGAGAGAC GGTCCCCATC CCTGAGGTGT
20800
G V E G N T V 254
CTTTCTAATG ACCCTCAACC TATCCCGCTG GCCCTGGGAG AAACAGAGGT
20850
GAACGCGATC CCTGATGCTT AGATCCCATT CTCAACTCAG AAATTTTTCA
20900
ACCCCTCCCA CTGTGGTTAC CTGTTCCCTT TCTTGCCCAC TCCTTTTCCC
20950
CTGAGGCATT GGGGGTTACA G
A
GTCTAGAT CCCATGCTAG GATTGTCTGT
21000 |
var(20972):[C:0.05]
AATGCC
C
CAG CCCACCTTCC CTTTCAGCCC CCAGAGCAGG GCCCTCCAGC
21050 |
var(21007):[T:0.22]
CTCTCGTCTC
T
CCTTTCCAA ACTCTGGAGG GAGTCATGGG AGAGGATGAG
21100 |
var(21061):[C:0.24]
GAACCTATGA ATGTCACTGT GAATGTGGGT TCTTCTGCCC TCTAAAGGCT
21150
GTCATCAAAA TGAAAGGGCA GCCACCTTCT CCAGGGGTGC TGTCCTCCTG
21200
CACATGCATC CTATCCACAC TCTGT
G
ACCG TCCCCTTTGC TTACTGCTCC
21250 |
var(21226):[A:0.01]
TGAGTCATCT TCACTTTCCC TTAG
A
T
G
T
T
T
C
A
G
C
A
C
C
T
G
A
T
G
C
A
G
A
A
G
C
G
21300 | Exon 7
M F Q H L M Q K R 263
G
A
A
G
C
A
C
A
C
C
C
A
G
T
G
G
A
C
G
T
A
T
G
G
A
C
C
A
C
T
G
A
C
C
T
C
G
A
C
T
C
T
C
T
A
T
G
A
C
C
21350
K H T Q W T Y G P L T S T L Y D 279
T
C
A
C
A
G
A
G
A
T
C
G
A
C
T
C
C
T
C
A
G
G
G
G
A
T
G
A
G
C
A
G
T
C
C
C
T
G
C
T
G
G
A
A
C
T
T
A
T
C
21400
L T E I D S S G D E Q S L L E L I 296
A
T
C
A
C
C
A
C
C
A
A
G
A
A
G
C
G
G
G
A
G
GTATGGCTC ATGACAGCAG GCTGTGGCTG
21450
I T T K K R E 303
GGGAGGGGTG TCAGGGTCTC TGAGCCACCT GTTCTCTTTC TGTTGCAG
G
C
21500 | Exon 8
A 304
T
C
G
C
C
A
G
A
T
C
C
T
G
G
A
C
C
A
G
A
C
G
C
C
G
G
T
G
A
A
G
G
A
G
C
T
G
G
T
G
A
G
C
C
T
C
A
A
G
T
21550
R Q I L D Q T P V K E L V S L K 320
G
G
A
A
G
C
G
G
T
A
C
G
G
G
C
G
G
C
C
G
T
A
C
T
T
C
T
G
C
A
T
G
C
T
G
G
G
T
G
C
C
A
T
A
T
A
T
C
T
G
21600 |
var(21561):[T:0.02]
|
var(21600):[A:0.01]
W K R Y G R P Y F C M L G A I Y L 337
C
T
G
T
A
C
A
T
C
A
T
C
T
G
C
T
T
C
A
C
C
A
T
G
T
G
C
T
G
C
A
T
C
T
A
C
C
G
C
C
C
C
C
T
C
A
A
G
C
C
21650
L Y I I C F T M C C I Y R P L K P 354
C
A
G
G
A
C
C
A
A
T
A
A
C
C
G
C
A
C
G
A
G
C
C
C
C
C
G
G
G
A
C
A
A
C
A
C
C
C
T
C
T
T
A
C
A
G
C
A
G
A
21700 |
var(21669):[A:0.27]
R T N N R T S P R D N T L L Q Q 370
A
G
C
T
A
C
T
T
C
A
G
GTGACACCC TTGTAGGAGC AGATCAGCAG GGCAGGACTT
21750
K L L Q 374
GGCTCTCTGT CCTCAGAGAC TGGTGTCCCT TTCCTCCCTC ACACCATTTC
21800
TCCCCTTGCT CTAATCTCAA ATATATGGGT A
C
AAACTCCA AATGCACGCC
21850 |
var(21832):[G:0.01]
CACAAAAACA CACATACGCT CTTACTCTGA GAGCAGAGTT TGAGAAGACC
21900
CAAACCTAAC AGATTAAAAA GAATCTGCTA AGACTGGTGA CCCTGGGCAC
21950
CATGGAAATG CAGGGCAGAG GCCTGAAAGC CCTGAGCATT TTGACTGTTC
22000
TTCTCCCCCA TTAG
G
A
A
G
C
C
T
A
C
A
T
G
A
C
C
C
C
T
A
A
G
G
A
C
G
A
T
A
T
C
C
G
G
C
T
G
22050 | Exon 9 |
var(22024):[G:0.25]
E A Y M T P K D D I R L 386
G
T
C
G
G
G
G
A
G
C
T
G
G
T
G
A
C
T
G
T
C
A
T
T
G
G
G
G
C
T
A
T
C
A
T
C
A
T
C
C
T
G
C
T
G
G
T
A
G
A
22100
V G E L V T V I G A I I I L L V E 403
G
GTGAGGTGT GGATGGACTC TGGGTGAGGC TGTCTGCCCG AGGAATCCAG
22150
403
CCCAAGTTCC GGTATCTGAG TGCCTTTGTG TCTCCCTGAC CTCTTCAG
G
T
22200 | Exon 10
V 404
T
C
C
A
G
A
C
A
T
C
T
T
C
A
G
A
A
T
G
G
G
G
G
T
C
A
C
T
C
G
C
T
T
C
T
T
T
G
G
A
C
A
G
A
C
C
A
T
C
C
22250
P D I F R M G V T R F F G Q T I 420
T
T
G
G
G
G
G
C
C
C
A
T
T
C
C
A
T
G
T
C
C
T
C
A
T
GTGAG TT
T
CCTTCCT CTCACTCCCA
22300 |
var(22283):[C:0.22]
L G G P F H V L I 429
TCCCTTCCCT CAACAGGGCT CCAGTTCCAC TCCTTGGATT CCTGACCTCT
22350
CAAGAACCTT AGCTCCAGAG CCCCCTCTCT AGTGCTGTGT GTATGACCCT
22400
GGGCATTGAG TGTGGGGAGG CTGAATCTGC ATGTGTGGGT ACTTTCCCAG
22450
CTACATTCTT GCTGTCAG
G
T CCCCAGGATC ATCCCAGCCC TCCCCTCATC
22500 |
var(22469):[A:0.01]
ACCCTCCTCC CTGCTCCCCC AG
C
A
T
C
A
C
C
T
A
T
G
C
C
T
T
C
A
T
G
G
T
G
C
T
G
G
T
G
22550 | Exon 11
I T Y A F M V L V 438
A
C
C
A
T
G
G
T
G
A
T
G
C
G
G
C
T
C
A
T
C
A
G
T
G
C
C
A
G
C
G
G
G
G
A
G
G
T
G
G
T
A
C
C
C
A
T
G
T
C
22600
T M V M R L I S A S G E V V P M S 455
C
T
T
T
G
C
A
C
T
C
G
T
G
C
T
G
G
G
C
T
G
G
T
G
C
A
A
C
G
T
C
A
T
G
T
A
C
T
T
C
G
C
C
C
G
A
G
G
A
T
22650 |
var(22628):[T:0.10]
F A L V L G W C N V M Y F A R G 471
T
C
C
A
G
A
T
G
C
T
A
G
G
C
C
C
C
T
T
C
A
C
C
A
T
C
A
T
G
A
T
T
C
A
G
A
A
G
GT CAGTCCTCCC
22700
F Q M L G P F T I M I Q K 484
CCCAAGCTCC CTAGAGAAAG GCCCCAGAGC CACA
G
T
C
A
G
C
A
G
A
C
G
G
T
C
C
C
22750 |
REPEAT
A
T
A
A
A
G
G
G
C
A
G
A
A
C
A
G
T
A
G
A
C
A
T
T
G
C
A
G
G
T
T
C
T
G
C
A
A
G
C
C
A
C
A
C
A
T
G
G
C
C
22800
T
C
A
C
T
G
C
A
T
G
T
T
T
T
T
C
T
T
C
T
T
T
T
T
T
A
A
C
A
A
T
C
C
T
T
T
T
A
A
A
A
A
A
T
G
T
A
G
A
A
22850
A
C
C
C
T
T
T
T
C
A
G
T
T
C
A
A
A
G
G
C
C
A
C
A
C
C
A
A
A
G
C
A
G
G
T
C
AGGT AGATCTGGTC
22900
CACAGGCCAT AGATAGCCAA TCCCTGTCCC AGAGGGTGGA GCTGTGAGAC
22950
TTGTCGGGGT GAGACCTGTT AGAGGCTGGA TGGGGCAATT GCTTGGGGAA
23000
TGTGTGCAGA TGTTCTCTGC CTCCTGCTCC TTCTAG
A
T
G
A
T
T
T
T
T
G
G
C
G
A
23050 | Exon 12
M I F G D 489
C
C
T
G
A
T
G
C
G
A
T
T
C
T
G
C
T
G
G
C
T
G
A
T
G
G
C
T
G
T
G
G
T
C
A
T
C
C
T
G
G
G
C
T
T
T
G
C
T
T
23100
L M R F C W L M A V V I L G F A 505
C
A
G
GTAATCA TCTGTCCAGG ACCAGGGGCC ATGGCAGGGA AGAGATGAG
G
23150 |
var(23150):[A:0.23]
S 506
AAGTCTAGGG GGCACTGGCT CTGGCTAAAC TTGGGGAGGA GGAGTAATGC
23200
AGAGATCAGA GGAGACCTAT GGTATCAGAG GATGGGACGT CCTCCAGAGG
23250
TGAGAAAAAT CGGGAGTGTT AGGGAGAGGT GGCTCTTAGG ATCAAGATGA
23300
GGCTCATA
C
A AAACTAGGGA CCGTAAAAAC CCAAAGTTTG GAGCACTGCA
23350 |
var(23309):[G:0.23]
GAGCTGGTGA TATTGAGATG AAGGGACCAG GATGGACATG CACGCAGAGC
23400
CCGGGGTGGG CTGGTCGTCT GCATGGTTGC CATGGTAACC CTCACCCCCT
23450
TGGGTGGAGC AG
C
C
T
T
C
T
A
T
A
T
C
A
T
C
T
T
C
C
A
G
A
C
A
G
A
G
G
A
C
C
C
C
G
A
G
G
A
G
23500 | Exon 13
A F Y I I F Q T E D P E E 519
C
T
A
G
G
C
C
A
C
T
T
C
T
A
C
G
A
C
T
A
C
C
C
C
A
T
G
G
C
C
C
T
G
T
T
C
A
G
C
A
C
C
T
T
C
G
A
G
C
T
23550
L G H F Y D Y P M A L F S T F E L 536
G
T
T
C
C
T
T
A
C
C
A
T
C
A
T
C
G
A
T
G
G
C
C
C
A
G
C
C
A
A
C
T
A
C
A
A
C
G
T
G
G
A
C
C
T
G
C
C
C
T
23600 |
var(23587):[T:0.01]
F L T I I D G P A N Y N V D L P 552
T
C
A
T
G
T
A
C
A
G
C
A
T
C
A
C
C
T
A
T
G
C
T
G
C
C
T
T
T
G
C
C
A
T
C
A
T
C
G
C
C
A
C
A
C
T
G
C
T
C
23650
F M Y S I T Y A A F A I I A T L L 569
A
T
G
C
T
C
A
A
C
C
T
C
C
T
C
A
T
T
G
C
C
A
T
G
A
T
G
G
G
C
G
A
C
A
C
T
C
A
C
T
G
G
C
G
A
G
T
G
G
C
23700
M L N L L I A M M G D T H W R V A 586
C
C
A
T
G
A
G
C
G
G
G
A
T
G
A
G
C
T
G
T
G
G
A
G
G
G
C
C
C
A
G
GTGAGCCCC CTGGTGGCAG
23750
H E R D E L W R A Q 596
GGAGGGTTAG GGCAAGTCAT CCCCTTCCTA CCAAGGAACC TGCCAAGCTG
23800
AGAG
A
CAGGA TATCTCCACC CCACTTATGT TTGGACAGTT GTGGCAAAGC
23850 |
var(23805):[G:0.22]
TAGCAAAATC ATGCAAAATG TACAGAAGCA CTGATTAGCA ATTCAACCAG
23900
GCAATACTGG AATCGCTGAG AAGA
A
TGCCT CACAGTTTTC TCAACAGTTA
23950 |
var(23925):[:0.22]
AAAGCTCAGT GTTTTCTAGA GGAATCAACA AGAAATAAAT CAAAAGAAAA
24000
TTAACGGTGG CTAAAATTGC ACTCAGTACA TTTTGTTCCC AAATAAAAAC
24050
TGGAGTATCA AGTCTTCTTG ATAATATTTA AGTCTGCAAA ATTTGATATG
24100
GAAAGCAGGA TGTGTTAAAA AAGTAATGCC ACCAAAACTT CCTATAGTAG
24150
CAGAAGCTAT CTTCAGCCAG ATCTTCAAGA TAGGGAGAGA AGACCATGAG
24200
ATGAATCAAA TCCTCATTTA AAAAACACCT AGAAAATAAT TTATCTAAAA
24250
AA
A
TCATTTC AGCAAAATAA TGGAAATTTC CCAAACTGGA AGGCATTTAA
24300 |
var(24253):[G:0.01]
CTATGCTGTG TAGAAAACGG AGTGGAAAAA CTAAGCTGGG AAATAAGGTT
24350
CACTCAGAAA AATATTTTCT CCAGGAATAT ATATTGATAT TCTAAGTGGG
24400
ATGTTTATAT TTATAAGTGG CCTTTATGTC TG
T
AGG
G
TCA AAATATCTGG
24450 |
var(24433):[C:0.01]
|
var(24437):[A:0.03]
GAGCCCTTAA AAGCCCTTTC TATTTGCTTT CTCTGGTGCC TGTGCTCCTG
24500
GGAATGGGGC TTCTGCTTCC TGTCTTTCTC CTGCCTCTGG CCTGGCTGCG
24550
TCATGGATGT TGGGTCATTG GGTAAAGAAT TGTTGGTCTC AAGCTCTATC
24600
AACTCTCTCC CACTGAAGAA GGTCAACAAA GGCTGCCCTA CCCCTACCTC
24650
TGTCTGCGCC CAGCCTCATC TCTGACTTCT CCTTTTGTTC CCATACGCAG
24700
596
A
T
T
G
T
G
G
C
C
A
C
C
A
C
G
G
T
G
A
T
G
C
T
G
G
A
G
C
G
G
A
A
G
C
T
G
C
C
T
C
G
C
T
G
C
C
T
G
T
G
24750 | Exon 14 |
var(24712):[T:0.01]
|
var(24715):[A:0.01]
I V A T T V M L E R K L P R C L W 613
G
C
C
T
C
G
C
T
C
C
G
G
G
A
T
C
T
G
C
G
G
A
C
G
G
G
A
G
T
A
T
G
G
C
C
T
G
G
G
A
G
A
C
C
G
C
T
G
G
T
24800 |
var(24790):[G:0.28]
P R S G I C G R E Y G L G D R W 629
T
C
C
T
G
C
G
GTG AGTGATATGC GGGGGTAGGT GTCCCCTGAG AAGCCTCATC
24850
F L R 632
GGCAGGGTAT CCCCCTGCTC AGACAGCTTC CGGCTCCTGG GTTCCCTGTG
24900
GAGGCCTGTG TGCTCCCTAG GCTCTATGCT TGTTGATTGA GCTGGTGAGG
24950
AAGGGGTCCC
G
TTTGGAGCT CAGACTTCCC AAAGCATCCA GGGAGTCTGT
25000 |
var(24961):[A:0.06]
GGCAGAG
C
CT GCTGCTTTCT GAGGCCTAGC TGCCAAGGGG CCAGTGACCC
25050 |
var(25008):[A:0.01]
AGGCATCCAC CATGGCTGCA GAAAAGGGAA AAGGCCAGCA ATGGCGGGGA
25100
TGGGAGGACC AGGGGATAAC AGACAAGCAT CCTTCTTGGA TCTGTTCTTC
25150
AAGTCCTGGC TGTGTCTCAA GTCCTCCCGC ATTCCACAG
G
G
T
G
G
A
A
G
A
C
A
25200 | Exon 15
V E D 635
G
G
C
A
A
G
A
T
C
T
C
A
A
C
C
G
G
C
A
G
C
G
G
A
T
C
C
A
A
C
G
C
T
A
C
G
C
A
C
A
G
G
C
C
T
T
C
C
A
C
25250
R Q D L N R Q R I Q R Y A Q A F H 652
A
C
C
C
G
G
G
G
C
T
C
T
G
A
G
G
A
T
T
T
G
G
A
C
A
A
A
G
A
C
T
C
A
G
T
G
G
A
A
A
A
A
C
T
A
G
A
G
C
T
25300
T R G S E D L D K D S V E K L E L 669
G
G
G
C
T
G
T
C
C
C
T
T
C
A
G
C
C
C
C
C
A
C
C
T
G
T
C
C
C
T
T
C
C
T
A
T
G
C
C
C
T
C
A
G
T
G
T
C
T
C
25350 |
var(25336):[C:0.27]
G C P F S P H L S L P M P S V S 685
G
A
A
G
T
A
C
C
T
C
C
C
G
C
A
G
C
A
G
T
G
C
C
A
A
T
T
G
G
G
A
A
A
G
G
C
T
T
C
G
G
C
A
A
G
G
G
A
C
C
25400 |
var(25376):[C:0.02]
R S T S R S S A N W E R L R Q G T 702
C
T
G
A
G
G
A
G
A
G
A
C
C
T
G
C
G
T
G
G
G
A
T
A
A
T
C
A
A
C
A
G
G
G
G
T
C
T
G
G
A
G
G
A
C
G
G
G
G
A
25450 |
var(25401):[T:0.03]
L R R D L R G I I N R G L E D G E 719
G
A
G
C
T
G
G
G
A
A
T
A
T
C
A
G
A
T
C
T
G
A
C
T
G
C
G
T
G
T
T
C
T
C
A
C
T
T
C
G
C
T
T
C
C
T
G
G
A
A
25500 |
UTR
S W E Y Q I 725
C
T
T
G
C
T
C
T
C
A
T
T
T
T
C
C
T
G
G
G
T
G
C
A
T
C
A
A
A
C
A
A
A
A
C
A
A
A
A
A
C
C
A
A
A
C
A
C
C
C
25550
A
G
A
G
G
T
C
T
C
A
T
C
T
C
C
C
A
G
G
C
C
C
C
A
G
G
G
G
A
G
A
A
A
G
A
G
G
A
G
T
A
G
C
A
T
G
A
A
C
G
25600 |
var(25569):[:0.05]
C
C
A
A
G
G
A
A
T
G
T
A
C
G
T
T
G
A
G
A
A
T
C
A
C
T
G
C
T
C
C
A
G
G
C
C
T
G
C
A
T
T
A
C
T
C
C
T
T
C
25650
A
G
C
T
C
T
G
G
G
G
C
A
G
A
G
G
A
A
G
C
C
C
A
G
C
C
C
A
A
G
C
A
C
G
G
G
G
C
T
G
G
C
A
G
G
G
C
G
T
G
25700
A
G
G
A
A
C
T
C
T
C
C
T
G
T
G
G
C
C
T
G
C
T
C
A
T
C
A
C
C
C
T
T
C
C
G
A
C
A
G
G
A
G
C
A
C
T
G
C
A
T
25750
G
T
C
A
G
A
G
C
A
C
T
T
T
A
A
A
A
A
C
A
G
G
C
C
A
G
C
C
T
G
C
T
T
G
G
G
C
G
C
T
C
G
G
T
C
T
C
C
A
C
25800
C
C
C
A
G
G
G
T
C
A
T
A
A
G
T
G
G
G
G
A
G
A
G
A
G
C
C
C
T
T
C
C
C
A
G
G
G
C
A
C
C
C
A
G
G
C
A
G
G
T
25850
G
C
A
G
G
G
A
A
G
T
G
C
A
G
A
G
C
T
T
G
T
G
G
A
A
A
G
C
G
T
G
T
G
A
G
T
G
A
G
G
G
A
G
A
C
A
G
G
A
A
25900
C
G
G
C
T
C
T
G
G
G
G
G
T
G
G
G
A
A
G
T
G
G
G
G
C
T
A
G
G
T
C
T
T
G
C
C
A
A
C
T
C
C
A
T
C
T
T
C
A
A
25950
T
A
A
A
G
T
C
G
T
T
T
T
C
G
G
A
T
C
C
C
T
G
C
C
C
A
GCTG CCCTTCTGCA TCTCTGC
A
GT
26000 |
var(25998):[G:0.18]
GCCATCTGCC GGCCCCACCC CTCTGCTCCT ACGTTGAGGC CTCCCTCACC
26050
CTT
T
GTTGCA GACTGAGGCC TCACCACACC AAAC
T
TGCAA ATTCCCTTCT
26100 |
var(26054):[C:0.24]
|
var(26085):[C:0.02]
TTCCCTTTAA TGAGGAGGGG GCTGGTGGAG AGGCGGAGGA CCAGGGAATG
26150
CAGCCATCGG
G
AGGGTTGGG TTTGGTGTGG GGCATCTCTC ACAGAGGCTG
26200 |
var(26161):[:0.23]
TTGGAGCCCG GCTCACGTCC CACATGTCCC TTCTCGGACC AGTGTCCAGG
26250
GCTGAGTCAC GGGTATCGTC ATTCTCAGAC CTCCACTGAG CCCTGCTGCC
26300
TCAGGTGTTG CTGAAGGAGC TGGATGTGGT GCAGCAGCTT CTTCTGGTGG
26350
CCAGCCAGGG TGATGCCCAG GGCAGGCAGG TCTCTGGTGG GGAGGGAAGG
26400
GATCAAATCT GGG
C
CAGCTT CTCCGAGATC CCCAATACGA CCCCCAGCCA
26450 |
var(26414):[T:0.05]
GGGGCCTGGA GCATTCGCCC CCACCCCACC ACTCCCTGCT TACTCTAGGC
26500
TGAGCTGAGC CACATCACTG AAGGTACAGA GGCCAAACTT GGAGAAGTTG
26550
TCCTGGTAGC ACTCCAGTCC AATGGCTGAA AGCCAGGCCT GGGGTGAGTC
26600
CAGACAAGGA AAGTCCAGGG CCACAGGGGT CAGAAGGGCC TGGGAAGGCC
26650
TAAGAGGGGA GGGGCAAGCA GGGTCAAGGT CTCCTCTTCA TCTTAGCCCC
26700
TCTCCTCAGT TTTCTTTAGG TTTGCATCTA CCCTCCCTGG CTTTCCCAGG
26750
CTCTAGCCCC AAGCTCCAGA CCTTTCCCCT GGGTCCCCGC CAGCCTGCAG
26800
GGTATCTGGC TTGCGGATCA TCTTGTCAAA TGCAGCCACC AGCTGGTCAA
26850
AATGAGGCCG CCGGGCACGG TCCTTCTGCC AAGTGTCCAA CATAAGTAGA
26900
TGTAATCCAG GAGGACAGCC TGGAGGCGGG GGCAGCCGGA ACTCCTGCTC
26950
TATTGCATTT AGTACCTGGG GGTCAGAGGA AGACTATGA
T
GATGGGAAGT
27000 |
var(26990):[C:0.30]
TTTGTTAGTA GAGGGGAGTA CTTTGTTGGG TAAGAGGGTG GGCTGGAATC
27050
TGGTGGAGCA TGAGGTTGGA GTGGAGAAGG AACTCAAAGA TATGGCAATC
27100
CAACAGCCAT GAGATCTTAG AATACAAACG GAGTAGAGAA TGGAGGTCCT
27150
AGAATGTTCC AACCTGGGAG GGATCGGGGT GGGAAATCAG CAGTGTCTAG
27200
GTCAGTGCTC ACCTCCTGCT CACTCATGTC CCAGTAAGGC CGTTCTCCAT
27250
AACTCATCAC TTCCCACATG AGTATCCCAA AGCTCCAGAC ATCACTGGAT
27300
GTTGTATGCT TTCCATGTGC AATGACCTCT GGGGCTGCCC AGCGAAGCAA
27350
ACAACTTGGG CCCTGAGGGG TAAAGTCAAA AGCAAATAGT AATAATCAT
A
27400 |
REPEAT
G
T
A
A
T
A
G
T
C
A
C
G
T
T
T
A
T
T
G
A
G
C
A
A
C
T
A
C
T
A
T
G
T
G
C
T
C
A
G
A
T
A
T
G
C
C
A
A
G
G
27450
G
T
T
T
T
A
C
A
T
C
A
A
G
C
A
T
C
T
C
A
T
T
T
A
A
T
C
C
T
C
A
T
A
A
C
A
A
C
C
C
T
C
T
A
A
G
G
T
G
G
27500
A
T
G
A
T
A
T
C
A
T
C
T
C
C
A
T
T
T
C
A
C
A
G
A
A
G
C
A
G
A
A
G
C
A
A
T
A
G
T
C
A
C
G
T
T
T
A
T
G
G
27550 |
REPEAT
A
G
C
A
A
C
T
A
C
T
A
T
G
T
G
C
T
C
A
G
A
T
A
T
G
T
T
A
A
G
G
G
T
T
T
T
A
C
A
T
C
A
A
G
C
A
T
C
T
C
27600
A
T
T
T
A
A
T
C
C
T
C
A
T
A
A
C
A
A
C
C
C
T
C
C
A
A
G
G
T
G
G
A
T
G
A
T
A
T
T
A
T
C
T
C
C
A
T
T
T
C
27650
A
C
A
G
A
A
G
C
A
G
A
A
G
G
T
G
A
A
G
C
T
T
A
G
A
G
A
A
A
G
T
G
A
A
C
T
T
G
T
C
C
A
A
G
G
T
C
A
C
A
27700
G
A
G
C
T
G
G
A
G
A
G
C
A
G
A
G
T
G
T
T
A
A
G
A
A
T
T
T
G
T
A
C
C
C
A
G
C
T
G
T
G
C
T
G
A
C
T
C
T
G
27750 |
var(27706):[A:0.03]
G
A
G
T
C
T
G
T
G
T
A
A
T
C
T
C
C
A
C
A
A
T
G
GGGGAAG GGCAGGAGGT AGTTCTAGAT
27800
TGTTGCAGGT CTCCTCCCCT CCCTCATCCC CTTTGTCTCG GTCCCTGAAA
27850
TCCCTCAAAC CCCGTCGCCT AGGCTTTCAT CTCCCCATCA CACAGGAGAG
27900
CCTCCCTCCT TTCAGGGACT ATGACACCCC GGCTGAGGTA CCTACCCCAG
27950
ATTCCAGCTC ACCCCCGACC CCAGCACCTG CTGGGGCATG CCACAAGGCC
28000
CCAGGCTGTG TCCCC
A
AGGC TGTGCTCTCA CCTGAGGACT GTGGCCAAGA
28050 |
var(28016):[:0.01]
CGGGCCACCT TGCACACCAA GTGGCTATTC ACCAGCACGC TGTGGGCAGA
28100
CAGCGAGCGA TGGACGAAGG CAAAGCTGGA CAGGTACTGC ATGGCAGCAG
28150
CCACTCCCCG CTGCATGGCC ACCAGCTGCA GGCTGCTGAA CTGGCCCTCC
28200
CGCTGCTGAG GGGAAGGGGC AGGGGGCAGA GGTCAGTGAT CGGAGACGGG
28250
GAGACCTCAA CATACTGCAC AGCAGACAAC AG