HMGCR 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
TCCCTTTCTA CCTTGTGTCC ATACCAAATT TTGTGATTTA TCACTAAGTA
50
CAAATTATTA GTTAAGTGCT ATAAAGATTC TTTTGAAATA CCTTTTGGGA
100
AGGATATA
G
A ATTTATTTTA AGAGCATAAA ACT
A
GACAAC TGGTGTTTCT
150 |
var(109):[T:0.03]
|
var(134):[C:0.01]
TTATTGCTTG CTTTGGAACT CATATT
C
CTA TTGGAGTTCC CAATTAGGCA
200 |
var(177):[T:0.05]
GTTTGCGAAT GAAAATTTCT AAATCTTGGG CTAAAGCCTG TTTTGGTAAC
250
AACTTTAGTC CTTATTTGAA TTACATTAGT AGGCATGTGT ACAACCTGT
A
300 |
var(300):[G:0.05]
ACTTCTGAGA TATTTGGTCC TTGAGACTTC TAGCGG
C
ATT AAAAATATGA
350 |
var(337):[G:0.02]
CAGGTTCTAG GCTCTCGGTA CTTACACACT TTTCTCTCTT TTTTTTTTTT
400
TTTTTTGACA AGGCTGCTAA GAGAACACTG CAATCTTTGG GTAGTTCAC
C
450 |
REPEAT
C
G
T
T
T
T
C
T
T
T
A
C
T
G
T
G
C
A
A
G
G
T
T
C
A
T
A
A
A
G
G
C
A
G
G
C
A
C
T
A
T
G
T
C
T
G
T
C
A
T
500
G
T
T
T
G
T
C
A
C
T
A
T
A
T
C
T
C
C
C
A
T
G
C
C
A
A
C
C
A
C
A
G
T
G
T
G
T
A
C
T
T
C
A
C
A
T
A
A
T
G
550 |
var(539):[T:0.10]
A
G
C
A
T
T
T
C
A
A
A
G
G
C
A
A
C
A
T
T
T
G
G
T
A
A
A
G
A
G
A
T
A
T
G
A
A
T
G
A
A
GGTCTTACA
600
CTGAAGC
A
G
T
G
G
G
G
A
A
C
A
G
T
A
G
A
A
C
C
A
G
C
C
T
A
A
G
C
A
T
T
A
G
A
T
C
T
G
G
G
T
T
C
650 |
REPEAT
A
A
A
T
T
C
C
A
G
T
T
T
T
G
C
T
C
A
T
T
A
T
C
T
A
T
G
T
G
A
T
C
T
A
C
A
G
C
A
A
G
T
T
G
C
T
T
G
A
C
700
A
A
A
C
T
T
T
A
A
T
T
T
T
T
A
C
T
T
T
T
T
T
G
T
A
A
A
A
T
G
G
G
A
A
T
A
A
T
A
C
C
T
A
T
T
A
T
A
T
A
750
A
G
G
A
T
T
A
T
A
A
G
A
A
T
C
T
A
T
A
A
T
C
A
T
T
T
A
T
T
A
A
A
A
C
T
A
A
G
G
A
G
T
G
T
T
T
A
G
TG
800
TTTTCTTCGT AATGTGTTTC AAAATATGGG CTTTAAAAAT TGAGTGA
A
AT
850 |
var(848):[C:0.01]
ACAATTCCTG TCCTTAATAA ATTTCCACAT ACGA
T
AGTAA GACAAATAAA
900 |
var(885):[C:0.02]
AAAATACTAC GGAAATTTTA TGGGTTTTCA AGGTCGGGAG TGATGATGTG
950
TTTGAGGGAA TTAGGAAAGG AGGTGGCATA TGAAAAAGTC CTTAAGGGAT
1000
ATTTAGGATC TCAGCAGTTA AAATGGGTAG GCATATCCAA GGTAAACAAA
1050
GAGAACATAA GCAGGGAGGT AAAAAGGTAC TGAGTGTGAC TGAAGAAGGG
1100
CCAGTTACTC CTGGCTGAAC TGTAAGGTTC GCACAGGAAA GTAGAGATAC
1150
GTCAGAAATG TGTGGTGGGG CCATATTAGT GGTGACAGGT TCTTTCTTTA
1200
ATCCAGTAGA CAATGAGAAA CGCTGATTTG
G
GTCTATGGC ATAATAGGAA
1250 |
var(1231):[C:0.02]
GTAGTATGCC ACATA
C
TGCA TGTGGGAGTT CTGC
A
G
G
A
C
A
G
A
T
T
G
G
G
A
A
G
1300 |
var(1266):[T:0.01]
|
REPEAT
T
G
C
A
T
G
C
G
T
G
T
A
A
G
A
C
T
G
G
G
A
A
G
A
C
C
A
G
T
T
A
G
G
A
G
A
G
G
C
T
A
T
T
G
C
A
C
T
G
T
1350
T
T
T
A
A
G
T
A
A
G
A
C
A
T
A
A
T
A
A
A
G
C
C
C
T
G
C
A
C
C
A
G
G
C
G
G
A
G
A
G
C
A
G
A
A
G
G
A
A
C
1400
G
C
A
C
A
G
A
A
G
A
C
G
C
A
G
G
A
G
A
G
G
C
A
C
A
T
T
T
C
A
G
A
G
A
G
A
A
T
C
C
A
G
T
A
T
G
C
A
A
T
1450
G
G
A
T
G
T
C
G
C
A
C
A
C
A
A
G
A
G
A
G
A
G
A
G
A
CGCAG GTGACCGGAG CCATTTACAC
1500
TAATGGGTAA ATCTCGGGAA AGCGCTGGTT TCGGCTACCG GCCAGTTACA
1550
GGTTTGAGGT GCCCGTCGCC GCCACCTTCC CTTTTTTTAT ATTCCTCTTT
1600
TTCTCATGGC CGCCTCCGCT TCCCTCCATC TCTCCCGCGC TAGTAACTGA
1650
GCTTTCAGTC ATCGACCTGA CCCTGCGTTT TCCCTCACGC TCCGATTCTG
1700
CTTCCTATCA CTGCCTCCTA CTGTACTATC ACAGCCAGGA CGAGCACGGG
1750
TCAGGCACTG AGGCTGTGGG ACACTCCACC CGCCTGGTCC CCTATCGCCT
1800
CCGCCTAGGC AGCTGCCATG CGTGCGCCCC CACAGCTCTA GGACCAATAG
1850
GCAGGCCCTA GTGCTGGGAC TCGAACGGCT ATTGGTTGGC CGAGCCGTGG
1900
TGAGAGATGG TGCGGTGCCT GTTCTTGGCC CTGCAGAGAG CTGTGGGCGG
1950
TTGTTAAGGC GACCGTTCGT GACGTAGCGC CGTCAGGCCG AGCAGCCCCC
2000
AGGCGATTGG CTAGACAATC GAACGATCCT CTCTTATTGG TCGAAGGCTC
2050
GTCCAGCTCC GAGCGTGCGT AAGGTGAGGG CTCCTTCCGC TCCGCGACTG
2100
CGTTAACTGG AGCCAGGC
T
G AGCGTCGGCG CCGGGG
T
T
C
G
G
T
G
G
C
C
T
C
T
A
2150 |
var(2119):[C:0.01]
| Exon 1 |
UTR
|
NOT SCANNED
G
T
G
A
G
A
T
C
T
G
G
A
G
G
T
G
A
G
G
C
G
G
G
C
G
G
T
G
A
C
C
G
A
G
A
A
G
A
G
G
G
G
C
A
G
G
G
G
C
G
2200
G
C
G
G
G
G
A
G
C
G
G
G
G
C
G
G
A
G
A
T
G
G
G
T
G
G
G
A
G
C
G
G
G
G
T
T
T
G
G
G
C
T
G
T
G
T
T
G
G
T
2250
G
G
C
A
A
T
T
C
T
G
G
A
G
C
T
T
C
C
C
T
C
G
G
C
C
C
T
G
G
G
A
A
G
T
G
G
C
T
A
C
C
G
G
C
A
G
C
T
C
C
2300
TGCGGACCTG GAGGGGGCTG CGGTTGCGCT TTGTCGGTGT GGCAGCTCGG
2350
ACCCGCGGGG ACTGCAAGGA ATGTCCTTGA GGCCCGGCAG GCCGAGCGGC
2400
GGCCGGCATC AGTGCCGGAG TAACCCGGGG TCCCGGGGTG GGCTTGAGAG
2450
GCGGGCGGCG GTCTGGCCTC TTCGTGACTG CGGTCATCAT CGGTGGACCC
2500
GCGGGGCGTA
G
CTGCGTTCA TCGTCCCTGT TCAGTCAGAG TAGGCAGTGC
2550 |
var(2511):[C:0.01]
TGGCTGCACG GTCACGAAAA TCGGGGC
G
GA AAGGGTGTCA GGCAGGGTGA
2600 |
var(2578):[A:0.01]
CCTCGGAGGC CCCTGGATTC GAGAAATGCT AGGGGTCTAT GGGGCTGTCG
2650
GGCCGGCAGC TCGCAGGGCA GACGGGAGAA GCGCCTGCAT CCCGGGATCC
2700
GGGCATTCAC GCCCAGGAAC TGCTGTTCGT TAGCACCTTT CTTTTAGGTG
2750
ACG
G
GAAAGA TCT
C
TGTAAA TACTGCTGAC TAACTTAGAA CCATGAAAGA
2800 |
var(2754):[A:0.01]
|
var(2764):[T:0.01]
ACCGTGGATT GGTGTAG
A
T
G
T
G
T
C
T
G
G
T
T
A
T
T
T
A
C
A
G
G
A
G
A
A
C
G
G
C
T
T
G
A
2850 |
NOT SCANNED
G
A
G
G
A
T
G
C
G
G
A
G
C
C
C
A
A
C
G
T
G
G
G
G
A
T
T
C
G
C
A
C
A
A
T
G
A
C
T
C
A
A
A
A
G
A
T
T
C
T
2900
T
C
T
C
C
C
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
GTA AGGGGTGTAG TCTCCTTGGT
2950
GCTGATATTC TTTTAGGAAA AATGTACCTT GGAGATACAA ATATAGAACA
3000
GTTAATTTCT GCAGTAGGAG GAGGTCGATG TACTCCATTC TTAAGTAGTC
3050
GTTTGAAATA TTTCAGGATT TGAGGATATT CCTTCTTAGA CATGGTCCTG
3100
CAGAGTCGTA GGAAGCATTT GTTTCTGGGC TATACTAAAT GTGCATGATT
3150
TCGGCGTCCC ACAAGGTAGA GAATGTACTT TTTGTTTACT TATGAATTTA
3200
TTTTCCTCTC CATGCAGTGA AAGGCATTTT GCAATTTAGA GATAATCTAG
3250
CAAAGACCTG GACAGTACTT TGGGGATAGG CTGGATTTTG CAGGCCTGCT
3300
TTGTTGTAGT GTTCTTCCAG AACTTATGAT AAACTTGGTG GCCAAAACAA
3350
ATGGGAATTA GTAACATGAA GGTTAAACAA AATTGCACAT AGGTTACAGC
3400
ATTAACATGA AAATTGTCGG GTATGTGGGA TAACCATTTC AAGATAAGAG
3450
TGTGAGTATG CGTGCATGCA CACACTCTTT GTATTCCTTT ATGGTCTAGT
3500
TTCTAGACT
A
TAGATAGCCA CATTATGGAA TTACATGGTC TAC
T
T
A
G
G
T
T
3550 |
var(3510):[G:0.03]
|
REPEAT
G
A
C
C
C
A
T
G
T
G
A
A
A
T
T
G
C
C
A
G
T
A
T
T
T
A
A
A
A
T
T
C
A
A
C
T
A
A
C
C
T
A
C
A
A
A
A
A
T
A
3600
G
C
A
G
T
T
T
C
A
T
A
T
G
A
T
T
C
C
A
T
T
T
A
A
CACTTA TCTTTGTCAG AGAACTTTGG
3650
AGCTCTAGCT TCATAAGTGA ATGAAGAGAA TAGATATGAC TTAAAAAACA
3700
ACATGTAATA GAATGTGAGC T
A
A
T
T
G
G
G
T
A
T
A
G
A
A
T
C
C
A
G
A
T
T
T
C
C
T
G
A
T
3750 |
REPEAT
T
G
C
C
A
G
T
GCA AGATTCGTTT TTTTTTTTTT TTTTTTCCTT CTTTCTGGAA
3800
TACCAGCTTG AGCAGCAGAA TGCTAGATCT TGTTGGGATT GAAAATGACT
3850
GCCATATAAG ACGCAGTTCT TGGCTTCAAA GAGACAAAAT GTACACATTT
3900
ATTAATTTGA GAACACTGTG AGATAGTATA TAATCAAATA CTGGAATGTG
3950
TAATGCAGGC GGAGTGCTGA GTAGGAGGAA GTAAGATGCC AAAACATCCT
4000
TTTCTGCAGT TGGCCATGGT AGGTGGCTTC TGTAGCAGAT TGGATTGACA
4050
TTTAAGAATT ATCCATTCTT TTAAAGAATC TGTAAAAGTT TGCAGCATAC
4100
TTTTTAGTCT GAATAAGTAA GGCATACCTT GCCTATTTGT TTCTTTAAGT
4150
AAAATTAATT TTT
G
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
4200 |
REPEAT
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
4250
C
C
G
G
C
T
A
A
A
A
C
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
4300 |
var(4262):[C:0.30]
C
G
G
G
C
G
T
A
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
A
G
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
4350
A
G
G
A
G
A
A
T
G
G
C
G
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
C
4400
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
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
4450
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
TTAAT TTTTATTGCA GCATTGCATA AATACTGTCA
4500
ACTTAATTTG CAGGAGCTAT CCTGTAGCCT GCTTGTGACA TTTGCAACTG
4550
CTGATGAAGG TGGACGATTG AATTCTATGG CATGTAAATG CTTTGCGTAA
4600
TCACAGGGCA ACGGGGAGGA TGTTCCTGAG AAATGAGATT GTTTATAATT
4650
ATGGTTACTT TTGACACACC CTCATAAGAT TGCTCAGTTT GTTTCCAAAT
4700
AGGTGGAGTT CTCTGTGTTT AGGGGCGGCT GACAGAATCA TGTGTAATTT
4750
TTTTCCTTGA ATATTGCAAA GATGACTTTA CACCTAGGAA AAAAAGTCCC
4800
AGAATTACAA TGCCACCATA AAATCTTTTG AGGGAAAACA TAATGTGTCT
4850
AATGTATAAT TATGGGTTTA TGATGTTAAA CCAATTTGTT CACAAGTTAG
4900
TGTTCCTTCT GGGTTGCAGC TAAGATTTTA ACTCAAATGA ATTAACTTTT
4950
TAAAACAATG AATCTGATTG ACATAATGAG GAATAATCTG AGCTGAAGAG
5000
TTTTTTTTTC AGGGAAAGAG GGTTAGAAAT AATTTTGACC TAATTTTGAA
5050
ACATGTAGTT AATTTACTTT CTGGAACTTT GATGCTAATT GATCCTTTAG
5100
AACAGTTGGT AGAGTTGTGT TTTAAATGTA GGAAAGAAAT TATGTGATAG
5150
AATACCATGA TGAAAATCTA GCCTTTTAGT GAGTGAGTCT TTTGTTTATA
5200
ATTAAGTAGA GTTCAAATCT AAGATTTGAT TAAAGATTTC CAATACTTAA
5250
AAGTCCAAGT ACCTGCTAAT TTAATAGAAA GTATTTTGTT GCTGTTGTTC
5300
ATTTTCCAGG ATAGTTC
C
A
A
G
T
T
G
A
C
T
G
T
C
T
C
T
A
A
T
C
T
G
A
A
G
A
T
C
T
G
A
A
A
5350 |
REPEAT
T
C
C
G
A
A
A
T
G
C
T
C
C
A
A
A
A
T
C
T
G
A
A
A
T
T
T
C
T
T
G
A
G
C
A
C
C
A
A
C
C
T
G
A
C
A
C
T
C
A
5400 |
var(5374):[:0.01]
A
A
G
A
A
A
A
T
G
C
T
C
A
T
T
G
C
A
G
C
A
T
T
T
G
G
A
G
T
T
T
G
G
A
T
T
T
T
G
G
A
T
T
A
G
G
G
A
T
G
5450
C
T
A
A
G
C
T
A
A
T
A
A
A
T
G
T
A
A
T
G
C
A
G
A
T
A
T
T
A
C
A
A
A
A
T
T
C
A
A
A
A
A
C
A
T
C
C
A
A
A
5500
A
T
C
T
G
A
A
A
C
G
C
T
T
C
T
G
G
T
C
C
C
A
A
G
C
A
T
T
T
T
G
G
A
T
A
A
A
G
G
A
T
A
C
T
C
A
G
C
C
T
5550 |
var(5521):[A:0.27]
G
TATGTAAAA TGTTTCTCCT TCCCGTACCC CATTAATAAG TTCCCTGAAT
5600
GCTCTGCATT TAGCCTTAAA CTAGAGGGCA TGGGTTACAT CCATATCTAG
5650
GTGCCTTAAA AAAAAGTCGT CTTTAGGTCT GTTTCAAGAT GTGTCATAAA
5700
ATACATGCTA CTATAGCTTA AGAATTTAAG CCAGCATTTG
T
TGAGCAATG
5750 |
var(5741):[C:0.01]
CTGTATATGA GTGCAAGGTG CTGGAGGGTA AATTGATGAA TAAGACTCAG
5800
GGTGGAAGGT TGAAAAAGCA TGAGTAAACA CAGGCAGGTA CATGCCACAT
5850
TTATATTCCT TTAGGTACTG CC
A
G
C
T
T
T
T
T
A
A
A
A
C
T
G
T
G
A
C
C
C
A
C
A
G
T
A
G
5900 |
REPEAT
G
A
A
A
T
A
C
A
C
G
T
T
A
A
T
T
T
A
A
A
A
G
C
C
A
G
A
C
A
C
A
C
A
C
T
T
A
T
A
T
A
G
G
T
A
T
A
G
T
T
5950 |
var(5910):[A:0.01]
T
C
T
T
G
A
A
A
C
A
T
A
G
T
T
T
T
A
A
G
A
A
A
T
A
A
T
A
C
C
T
A
C
C
C
A
T
A
C
T
A
C
C
T
G
G
C
T
T
A
6000
C
C
C
A
A
C
A
G
C
T
A
T
T
T
T
T
T
A
T
A
A
T
A
T
T
G
T
T
T
T
C
T
A
T
T
T
T
A
T
T
T
T
A
T
T
T
A
A
A
A
6050
A
T
G
T
T
T
G
T
T
C
T
T
A
A
C
G
A
C
A
A
A
A
T
T
G
A
T
G
T
C
A
T
G
A
T
G
T
A
A
T
T
G
A
T
G
C
A
G
T
T
6100
G
T
T
G
T
G
G
A
T
C
A
A
C
A
G
T
T
T
G
A
A
A
A
CTGTTTA GCTAGTGGTG TGGTATGTCT
6150
GAAATGTAGA GAACATGGAG TGATGCAGTG AGAGATGACA CTTGGTATTT
6200
GCTTTGGTTC CTTAAAGCTG CTCTTTTTTT TTTTTTTTGG TCTTTCCCCT
6250
AACCCTTTAT AAATAGATTA ATGCTTTCTT TCACTTACTT GATTGCCTTT
6300
TTATAGTCTG TCTTCAACAG ATGAATCACT TTTATTTATT ACTAAATGTG
6350
AGATTCATTT GAATTCTTGC TAGAGTGGCA GTTAATGAG
C
T
T
A
CTTTTTA
6400 |
var(6390):[:0.67]
AATCTTTTTG GTTGATTTTT GCAGGTTACT AATATGCCTT ATCACAGGCA
6450
TTGATTTTAG TGAAAGAAGT AAGACTTGCA GGTTTATTTG TGGAGACCAA
6500
TGGTAATAGA AGATTTGTTT TCAAAATCAG AATGTCATAA TTATTATTTA
6550
GCAAACAGGA AATTTAGTCA TGGTAGTCAG TAAATCAAAA TCTTCTATAT
6600
GTTCTTTTGG GAATTTTTTT GAATGCTATA TACAGATACT TCAGCCAGTC
6650
ATCCTCTTCT AGTACTGTTC CAGCTTTTGA TTAGTTGTGA AAGTTTGGAG
6700
CTTTTCACAT CTAATGCTTT TCCATTGGTC TTCTAGCACT ATTGTTGATG
6750
A
A
TCTGCTAG AAGAAAAGCA GCCACCACAG CAAAATTCTT AACCCTGTTT
6800 |
var(6752):[T:0.30]
TATT
A
ATGTA GAAACATCTA TCAGAAAAGA CTTTTTTTCT GTTGACAGCA
6850 |
var(6805):[G:0.01]
ATGTTAGGAA GGTTTATTAA ACATCCTTTT GCTAGTGACA TTATGCCATA
6900
TGTTCTATGG AATGAAAAAG TACAAGAGGT CCCTGCCCTT GAGGATCTTA
6950
TCAACTAACA TGATTTATAG CAGGA
C
ACTC AATAAGTGGA TTCTTGGGTG
7000 |
var(6976):[T:0.01]
TTTACCTT
T
T GTGTAATCAG AATGTAGATG ATGAAGAAGA TACTTAACAT
7050 |
var(7009):[C:0.01]
GCATTTTATA TCTAGGTAAT TAGAAAATGT GAATAGCTGT TTCTCACTTG
7100
TGTTTTCTGC TTGATTGCTC TTCTACTTGC AAGGCTTAGG TAATAAGGTC
7150
GAGATACTTA TCTGGTTTGA TCTTAAATGT TTGAATTCAT ATAATTTTTA
7200
AGAAATGGCT GCTTTAAAGT TGGTTGCCAG TAAGTAATAA AGGATTTATT
7250
GTTTGAGTGA AGAAGAAATA ACATAGTTCT CTTAATTTTA TAATTATTTT
7300
CCAGAATTAT AAGGAACAGT ATCAAATAGT CATATGTATG GGACA
C
TGTG
7350 |
var(7346):[T:0.01]
CATACAAAGC AGGGTTTATA GCACACTTTT CCTTAAAATC TTTTCCTAAA
7400
AATACAATGA GCTGTATACT AAGTGTTCAC CCTTGATATT CCTTCCAG
G
A
7450 | Exon 2 |
UTR
T
C
C
A
A
G
G
A
T
T
C
T
G
T
A
G
C
T
A
C
A
A
T
G
T
T
G
T
C
A
A
G
A
C
T
T
T
T
T
C
G
A
A
T
G
C
A
T
G
G
7500
M L S R L F R M H G 10
C
C
T
C
T
T
T
G
T
G
G
C
C
T
C
C
C
A
T
C
C
C
T
G
G
G
A
A
G
T
C
A
T
A
G
T
G
G
G
G
A
C
A
G
T
G
A
C
A
C
7550
L F V A S H P W E V I V G T V T 26
T
G
A
C
C
A
T
C
T
G
C
A
T
G
A
T
G
T
C
C
A
T
G
A
A
C
A
T
G
T
T
T
A
C
T
G
G
T
A
A
C
A
A
T
A
A
G
A
T
C
7600
L T I C M M S M N M F T G N N K I 43
T
G
T
G
G
T
T
G
G
A
A
T
T
A
T
G
A
A
T
G
T
C
C
A
A
A
G
T
T
T
G
A
A
G
A
G
GTTA GTGAAGTTAA
7650
C G W N Y E C P K F E E 55
TTTGATACTG ACTAAAGTAA ATTACATTTT CAATTTTTGA AGAGCCCTTA
7700
AGCCCCTATA GGGAGCACAT AATTTTTAAA AGTTAGAGTA AAATATTTAT
7750
TTTAGTATTT TGGAACTTAC CTCAAATTTC TGCTTACATG GAATGCACTG
7800
GAAATGCTCT TATTTTGCTT TGTCTTTACA AATGAATGTA ATTGACTTTA
7850
TTTGAGAAAT ACATCTTTTA TAAGTGACTA ATAGTCAAAA ATGATTGTG
G
7900 |
REPEAT
G
C
C
G
G
G
T
A
T
A
G
T
G
A
C
T
C
A
T
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
A
A
A
7950 |
var(7904):[A:0.01]
G
C
A
G
G
A
G
A
A
T
T
G
T
T
T
G
A
G
C
C
T
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
C
T
G
8000
G
A
C
A
A
C
A
T
A
G
T
A
A
G
A
C
C
C
A
G
T
C
T
T
T
A
A
A
A
A
A
A
A
A
T
T
A
A
A
G
G
C
C
G
G
G
C
A
C
G
8050 |
REPEAT
G
T
G
G
C
T
C
A
T
G
T
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
T
G
G
A
T
8100
C
A
C
G
A
G
G
T
C
G
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
C
G
T
G
8150
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
G
G
G
C
T
C
C
T
8200
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
A
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
G
8250 |
var(8216):[G:0.04]
|
var(8219):[A:0.40]
G
A
G
G
C
A
G
A
G
C
T
T
G
C
A
G
C
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
C
T
G
G
8300
G
T
G
A
C
A
G
A
G
C
G
A
G
A
T
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
T
T
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
T
G
8350 |
REPEAT
T
G
G
T
A
G
C
A
T
G
T
A
C
C
T
G
T
A
G
T
C
C
T
G
C
T
A
C
T
C
G
G
G
A
G
G
C
C
A
T
G
G
C
A
G
G
A
G
G
A
8400
T
C
C
C
T
T
G
A
A
C
C
T
G
G
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
A
C
T
G
T
G
A
T
T
G
C
A
C
C
A
C
T
G
8450
T
A
C
T
C
T
A
G
C
C
T
G
G
G
T
A
A
C
A
G
C
A
T
G
T
T
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
T
8500
TGTGGTGATG TATTGGCTTA CCACAGTGGT TTGATTAAAA GTTGGATTTA
8550
ATTTTTGATT TGTAGGTTTG ATATTTTTAT TGGACTTGTA TTGTGCTTAC
8600
ATTTATGTTC TCATGAC
A
A
T ATATAAATGA ATTACACATG CAAAATAAAA
8650 |
var(8618):[:0.76]
ATTCTTAGTT TTGATTACTT ATTTTAAAAG TCAAAGCTAA TGGAATTTCC
8700
TTTTCTTTCT CTCCTATTAG
G
A
T
G
T
T
T
T
G
A
G
C
A
G
T
G
A
C
A
T
T
A
T
A
A
T
T
C
T
G
8750 | Exon 3
D V L S S D I I I L 65
A
C
A
A
T
A
A
C
A
C
G
A
T
G
C
A
T
A
G
C
C
A
T
C
C
T
G
T
A
T
A
T
T
T
A
C
T
T
C
C
A
G
T
T
C
C
A
G
A
A
8800
T I T R C I A I L Y I Y F Q F Q N 82
T
T
T
A
C
G
T
C
A
A
C
T
T
G
G
A
T
C
A
A
A
A
T
A
T
A
T
T
T
T
G
G
GTAATAGT TTTACATATT
8850
L R Q L G S K Y I L 92
TAACTTCTGG TGTCATCAGA TTTTTGATTT GCTGTGGAAA TAAACCTGTT
8900
CATTCAAATC ATGTATTTGG AAATATGTGT ATTGCTGAAA GTGTGCTGCA
8950
TGCATTGAAT AGTTTCCTTA TTATTGGCAA TTAGACATTC TGAAATTTGA
9000
GACCTTAATA ATTTGGAGTA AACTAGTATT ATCTCAGAAT GCTGTGTGAC
9050
ACTGTTATTA TTTGTGTAGT AAAGGATAAA GTTTTTTTAG TATTGAACTT
9100
TTGTCATTTT AG
G
T
A
T
T
G
C
T
G
G
C
C
T
T
T
T
C
A
C
A
A
T
T
T
T
C
T
C
A
A
G
T
T
T
T
G
T
A
9150 | Exon 4
G I A G L F T I F S S F V 105
T
T
C
A
G
T
A
C
A
G
T
T
G
T
C
A
T
T
C
A
C
T
T
C
T
T
A
G
A
C
A
A
A
G
A
A
T
T
G
A
C
A
G
G
C
T
T
G
A
A
9200
F S T V V I H F L D K E L T G L N 122
GTAAGTATTT AAAACCTAAA TATACTTTCT GTCAAAATAC ATTTTAAAAA
9250
ACTTTTCTTC CCCATGCTGT AAAGGTACAT TTTCAAAAGT TAAGAAAATA
9300
AGGGGAAATT TTTTTGTATA ATTTTACTAT TAGCTAATTT TAATAACTAT
9350
TAACATTTTG GCATATATCC TTTTCTACTG TTTTTATACT TAAAGAAAAT
9400
ATCTG
A
T
A
T
C
A
T
A
T
A
T
A
T
T
G
T
T
T
T
A
T
A
A
T
T
T
C
T
T
T
A
T
G
C
T
T
A
A
T
A
A
T
A
G
T
9450 |
REPEAT
T
T
A
T
C
A
A
C
A
T
C
T
T
T
C
C
A
T
G
T
C
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
C
9500 |
REPEAT
G
C
T
C
T
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
T
A
A
T
G
G
C
A
C
G
A
T
C
C
T
G
G
C
T
C
A
C
T
G
C
A
9550 |
var(9533):[T:0.27]
A
C
C
T
C
C
A
C
T
T
C
C
C
G
G
G
T
T
C
A
A
G
C
A
G
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G