HSPA9B 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
CCCTGCCTTC TGAGAGAACT AAAAACAAGA GAAATGAAGT GTTAAGTAAC
50
TAGTGAGGAT AATATAGTAA TAGCTGACAG TTAAGAGTGT GTGGGAGGCT
100
TTTTAAAAAC TTTTAGAATC TATATAATCT ATAACCCATG TTACGTTAGA
150
CTTTT
G
T
T
T
A TTTTCTTACT CCCACTGCCA TCCTCCTCAG AATGTAAACT
200 |
var(156):[:0.01]
CTTCAGTTAG CTTCTTTCCC TCCCCAACTT TCCCCAACAT TTCCTTCACA
250
GTTCCTCACC CAGGGGTGAC TACTTAATAA TACAGATCTT CCTGAAGAGA
300
TAGGGGGTCT GAAACATTTC TCTTTTTTTG AAAGCGGGCT TCCAGGACAA
350
ATTGCTTCAT CTCCAAAATC AAGTTCAATC TGTCATCAGC CATTC
A
TTCG
400 |
var(396):[G:0.04]
T
G
T
T
T
T
G
C
T
T
T
C
G
C
T
G
T
A
T
T
C
C
T
A
C
C
A
C
C
T
G
G
G
A
G
A
G
T
G
A
C
T
G
A
C
A
C
A
C
G
450 |
REPEAT
|
NOT SCANNED
G
T
A
G
G
C
A
T
G
C
C
A
A
A
A
C
A
T
A
T
C
T
G
T
T
G
A
A
T
C
A
A
T
T
A
A
T
T
C
C
T
C
T
T
C
T
T
A
A
A
500
A
A
T
C
T
A
A
A
A
C
T
G
G
G
T
T
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
T
550 |
REPEAT
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
C
A
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
C
600
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
G
G
T
G
T
C
T
A
C
C
A
A
A
A
A
T
A
T
A
A
A
A
A
T
T
A
G
C
T
G
650
G
G
C
G
T
G
G
T
G
G
C
G
C
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
T
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
700
G
A
G
A
A
T
A
G
C
T
T
G
A
A
C
C
A
G
G
G
A
G
T
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
G
G
C
G
750
C
C
A
C
T
G
C
A
C
T
C
A
A
G
C
C
T
G
G
C
G
A
C
A
A
A
G
A
C
T
G
C
C
T
C
A
A
A
A
A
A
A
A
A
A
A
C
A
A
A
800
A
A
CCTAAAAA CTGGTCACAG GGTAGTGAAG TAGTTGACAT CCTGCCACCA
850
GCACAAGGTT TAAAAAGGGC CAGAGGAGTC TCAAGTCAGG CCCAGCACAG
900
TGGGGAGAGG AAGAGCCTGA AGCTCAGCTA
T
T
T
T
T
C
T
T
T
T
T
T
T
T
C
T
T
G
A
G
950 |
REPEAT
A
C
G
G
A
G
T
C
T
C
G
C
T
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
G
C
G
A
T
C
T
C
G
G
1000
C
C
C
A
C
T
G
C
A
A
G
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
C
G
C
C
G
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
1050
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
A
G
C
G
C
C
T
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
C
T
T
T
T
1100
T
C
G
T
A
T
T
T
T
C
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
1150
G
A
T
C
T
C
C
T
A
A
C
C
T
C
G
C
G
A
T
C
C
G
C
T
C
G
C
T
T
C
G
G
C
C
T
C
C
C
A
A
A
A
G
T
G
C
T
G
G
G
1200 |
var(1156):[G:0.01]
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
G
C
C
C
G
G
C
C
AAGCTCA GCTATTTTTT TTTCCCTTTG
1250
TGCAGGCTAA TTGGCCTAAT GTTCTGTGT
G
AATCAAACGC TTCGTAGTTG
1300 |
var(1280):[A:0.01]
GAAACCCAAG ACCCCTGTGA TAAAACGCAA CACGAAATTG TTTAACGTCT
1350
GTCTGCATAT CCAAGTGTCT TTCAAGTTGT GAACAACGGG CGGGACCAAA
1400
CAACAAAAGT ACTGACGTCC TCACTTCACA AAGCCACAAG ACAAGATGGC
1450
GCCGTCCTCC AGGAGCGGGA GCTGGGAACA CGTCCACGCC CGGGGG
G
TGT
1500 |
var(1497):[C:0.01]
GCACGCGCCC GGGCTCGC
C
C CAGGGAACGC TGGCGTGCAC TCGGGCACCC
1550 |
var(1519):[T:0.02]
AGTGAGCGCC GCAGTTAGTC TCCACCCATG TTTTCCGCCA CTCCTTGCGC
1600
ACATGCGCTC TAGGTTCTTA GCTGGATGTC TGTTGCGCCA ACAGGCTCCT
1650
CCTCCCGC
G
C AACTGACGCA AGAAGACTGT AATCGGTTCG CAATTTATCC
1700 |
var(1659):[T:0.01]
CGTGTGACCT TGAGTCTTTC CTGTCGCCGA GGACCGGGGC TGTCCGAGAT
1750
ACGGCCTTCA TATCCCTCTT CCTCCCCTGG ACTCTTTCTG AGCTCAGAGC
1800
CGCCGCAGCC GGGACAGGAG GGCAGGCTTT CTCCAACCAT CATGCTGCGG
1850
AGCATATTAC CTGTACGCCC TGG
C
TCCGGG AGCGGCAGTC GAGTATCCTC
1900 |
var(1874):[G:0.01]
TGGTCAGGCG GCGCGGGCGG CGCCTCAGCG GAAGAGCGGG CCTCTGGGCC
1950
GCAGTGACCA ACCCCCGCCC C
T
C
A
C
C
C
C
A
C
G
T
G
G
T
T
G
G
A
G
G
T
T
T
C
C
A
G
A
A
2000 | Exon 1 |
UTR
G
C
G
C
T
G
C
C
G
C
C
A
C
C
G
C
A
T
C
G
C
G
C
A
G
C
T
C
T
T
T
G
C
C
G
T
C
G
G
A
G
C
G
C
T
T
G
T
T
T
2050
G
C
T
G
C
C
T
C
G
T
A
C
T
C
C
T
C
C
A
T
T
T
A
T
C
C
G
C
C
A
T
G
A
T
A
A
G
T
G
C
C
A
G
C
C
G
A
G
C
T
2100 |
var(2065):[G:0.03]
M I S A S R A 7
G
C
A
G
C
A
G
C
C
C
G
T
C
T
C
G
T
G
G
G
C
G
C
C
G
C
A
G
C
C
T
C
C
C
G
G
G
G
C
C
C
T
A
C
G
G
C
C
G
C
2150
A A A R L V G A A A S R G P T A A 24
C
C
G
C
C
A
C
C
A
G
GTGAGGAACT GGGACCTTCC CGAATGGGGT CACGGCCTCG
2200 |
var(2155):[T:0.01]
R H Q 27
GGCCTTGGGC CTCGGGCTTC GCTGCGGCAG GCCGCGCGCC CTTTAGGGTT
2250
TGAATT
C
TCC AGTATAGGTC AGGCGGGAAG GA
A
GGTAACG GGCCTTCCAT
2300 |
var(2257):[T:0.01]
|
var(2283):[G:0.02]
AGTTAGCGCT GCCGGGTCAA GATTTTGCCC AAGGTTTTGC CTCCGGCTTG
2350
GGCCCTGCTG AGTCACACCC CTCGCGATCT AGAGTGTCAT TTCAAAATTA
2400
C
CAGGTAGTG GTCCT
G
ATGG CCTGTTCTGT GGCTGAATGG AAAGGTTTGG
2450 |
var(2401):[T:0.01]
|
var(2416):[C:0.05]
CCTTGGGGGT GAGGGATGCA GTCTATTGGG AAAGCCACTA TTTTCAGTTT
2500
TATTTTTGGC TCCTCTACAG AATACAGAGT GTGTAAGGAT CCCGTTGATA
2550
CGGTGAAATA AAATAAGAAA GCTCTGAGTC GGAACTCCAG TTTTCGTGCT
2600
TAGCAACATT TTCTCAAAAT CTGTGGTGTA AGATTGTACT CGTTTGTTAC
2650
TTCAGAAAAA AAAGCAGATC GTGGGGCGGA GAAAAGGCTA TGGAGTGGTT
2700
ACTTGTTTTC TAAAATAAAA GACAAATGCT TTAGAGAACA GGAATTGTAT
2750
GTGGGCATTA AGGAAGGCTT GGAAGGAGCC TGAGGTTAAG TTGTAATAAA
2800
GGTCTTTTAT CCTAGTGAAA CGCCACTACT TTTCTTTTTT CTTTCAAAGA
2850
CCCTTAGTAA CTCTAGTTCT TTTAAACTAA TTGCACGGCA AGGTAA
G
G
G
G
2900 |
REPEAT
A
A
G
T
G
T
T
T
T
C
C
C
C
C
A
G
G
G
G
A
C
A
T
C
T
G
G
C
A
A
T
G
T
C
T
G
T
G
G
A
T
A
T
T
T
T
A
G
G
T
2950 |
var(2923):[G:0.01]
T
G
T
C
A
C
T
A
A
C
T
T
A
C
T
G
G
G
G
T
G
C
T
T
A
T
T
G
G
T
T
T
C
T
A
G
G
G
T
G
T
C
G
A
G
G
C
C
A
G
3000 |
var(2958):[T:0.04]
G
G
A
T
G
C
T
G
C
T
G
T
A
T
A
T
C
C
T
A
C
A
A
T
G
C
A
C
A
G
A
A
C
A
G
C
C
C
C
C
A
C
C
A
C
A
A
A
A
A
3050
T
T
T
C
G
C
C
C
A
A
A
A
T
T
A
A
T
A
G
C
G
C
C
A
C
G
G
T
T
G
A
G
A
A
A
T
C
C
T
A CTGTAATGTG
3100
ATTCTAAGGC
C
AT
C
TTTTAT TTACCTTTTT TCGTCTTACT TATTTGGGAA
3150 |
var(3111):[T:0.01]
|
var(3114):[A:0.02]
ACTTTAATAT TTACTGTTTT AGTAGCTTAA TGTATTTTAT ATACTAAGTG
3200
AGCCCAAGTT TTCTCTTTTT CCTCCCAGGA TACACACTGG TTGGTGACTG
3250
AGTCAGTTTT TTCTTTTTTA G
G
A
T
A
G
C
T
G
G
A
A
T
G
G
C
C
T
T
A
G
T
C
A
T
G
A
G
G
C
3300 | Exon 2
D S W N G L S H E A 37
T
T
T
T
A
G
A
C
T
T
G
T
T
T
C
A
A
G
G
C
G
G
G
A
T
T
A
T
G
C
GTAAGTATAA TATCATTTCC
3350
F R L V S R R D Y A 47
TTTGAGAGGG AATACATATT AAACTTCAAA GCAGTGTTTT CTACATTTGT
3400
GATTATTCT
T
C
T
CTGTAATT ATTTATCTGT ATTTATTTAG AGATTATGTA
3450 |
var(3410):[:0.50]
GTATACCACT GTTAATTTTC CAATTAAATA TTATCTTCCA GTGACTTTGG
3500
TCTATCAAGA TAACAATAGC TGTGACACTG TTCTAAATGT CTTACAG
A
T
C
3550 | Exon 3
S 48
A
G
A
A
G
C
A
A
T
C
A
A
G
G
G
A
G
C
A
G
T
T
G
T
T
G
G
T
A
T
T
G
A
T
T
T
G
G
G
T
A
C
T
A
C
C
A
A
C
T
3600
E A I K G A V V G I D L G T T N 64
C
C
T
G
C
G
T
G
G
C
A
G
T
T
A
T
G
G
A
A
G
G
T
A
A
A
C
A
A
G
C
A
A
A
G
GTGAG CATGATTGAT
3650
S C V A V M E G K Q A K 76
AACTAGTACC TTATCCAGAA TCTGTCCAGA ATTCTGTGCT CTTTTCCTTA
3700
GTTAAGGAAT TTGAGAACCT GATTTGCGC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
3750 |
REPEAT
T
T
T
T
T
T
G
G
A
G
A
C
A
G
T
C
T
C
T
A
T
A
G
C
C
C
A
T
G
G
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
G
T
C
3800
T
C
C
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
A
C
A
G
T
T
C
T
C
C
T
G
C
C
T
T
3850 |
var(3847):[T:0.07]
G
G
C
C
A
C
A
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
A
C
C
A
C
C
A
T
T
C
C
T
G
G
C
T
A
A
T
T
T
T
3900
T
T
G
T
A
T
T
T
T
C
A
G
T
A
G
A
G
A
C
A
G
T
T
C
C
A
C
T
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
3950
G
C
T
C
A
A
G
T
G
A
T
C
C
G
C
C
C
A
C
G
T
T
G
G
C
C
T
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
A
T
G
4000
T
G
A
A
C
C
A
C
T
A
A
G
C
C
T
G
G
C
C
T CGAAGTACTT CCAACTAAAA CAGCAAAAAC
4050
ATAACTATAG ATCAGGGCT
G
A
C
C
G
G
G
C
A
T
A
A
T
G
G
C
T
C
A
C
G
C
C
T
G
C
A
G
T
C
C
4100 |
REPEAT
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
G
G
G
G
T
G
G
A
T
T
A
C
C
T
G
A
G
G
T
C
C
C
A
A
G
T
T
C
A
4150
A
G
A
C
C
A
G
C
C
C
G
G
C
C
A
A
A
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
G
C
A
A
A
4200
A
A
ATT
G
G
C
C
G
G
G
T
A
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
A
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
G
4250 |
REPEAT
|
var(4248):[A:0.10]
G
C
C
A
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
A
A
G
G
T
C
A
A
G
A
G
A
T
C
G
A
G
A
C
C
A
T
T
C
T
G
G
C
C
A
A
4300 |
var(4259):[A:0.01]
C
A
T
G
G
T
G
A
A
A
C
C
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
T
G
G
G
C
G
T
A
G
T
4350
G
G
C
A
C
A
C
A
C
C
T
G
T
A
G
T
C
C
C
C
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
4400
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
C
A
T
C
A
C
T
G
T
A
4450
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
A
C
T
T
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
4500
GAGACTATAG ATCAGGTTTT TCATACCCAA TGTTGGGACA AGAATCTTTA
4550
CTTCCACATG GAGAATTATA TCTACTTCTA AGTTTTTTGG GGGGTTGGCC
4600
ACAGATATCA GGCATATAGG AAAAATGCCA AGAAGCCCAA ATTAGGGCCA
4650
AGAGAAGGAA TAATCTCTTG GTGCCAAACA AGTGGGATAA GAAGACCATA
4700
GACAGTTCAG GTTATTTCAG AAGAGGAGAT TGGGGGGAAA GGAAGTATGA
4750
AAGCAAAAGA GGCCATGAAT GGAAGAAGCA AGAGTCAAGA ATTCCAG
G
TG
4800 |
var(4798):[T:0.01]
TTCTAAATCT TGCTAAGAAC CCGGTGGGAA TAAAGGTTGC ATGTACAGAG
4850
TAAGGAGGCT TCAAAAGAAA TAGCCTGCTC CAATGAACAA CATGCATTAC
4900
TTCAGAGATG AAGCTCCACT TCTAGTCTGT CTCTGCACAC CCAACTTTGT
4950
TTCAATTTAG AAAATGCAGC ACTTTGGTGG TTACCAGAGT AACCAAACAG
5000
TGCAA
G
CCAT TCCCACCCCT CTTAATAGTA AATTAGTAGT CCTACCTCTA
5050 |
var(5006):[C:0.01]
TACCACATTT AAATCCTTTT CTGGGAAGTT AGATACATAC AATTATCAGC
5100
ACTACAAAGG TTCACCTGAC AAGAGTCTTA AGCAACCAAA GCAGTTTTTA
5150
AAATGTAAAT CAG
G
G
C
C
A
G
G
C
C
T
G
G
T
G
G
G
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
A
C
A
C
5200 |
REPEAT
T
T
G
G
G
G
A
G
G
C
C
A
C
T
T
G
A
G
T
G
T
G
G
G
A
G
T
T
G
A
A
G
A
T
C
A
C
C
C
T
A
G
G
C
A
A
C
A
T
A
5250 |
var(5214):[G:0.01]
G
C
A
A
A
A
C
A
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
A
G
T
G
G
T
G
T
G
C
C
C
C
T
5300
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
T
G
G
A
G
G
C
T
A
A
G
G
T
G
G
G
A
G
G
A
T
C
A
G
C
T
G
A
G
G
C
T
G
G
5350
C
A
G
G
T
C
A
A
T
G
C
T
G
C
A
G
T
G
A
G
C
C
G
T
G
A
C
A
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
5400 |
NOT SCANNED
G
T
G
A
C
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
C
C
A
G
G
C
G
C
A
G
T
G
5450 |
REPEAT
C
C
T
C
A
A
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
T
G
G
G
C
G
G
A
T
C
G
C
5500
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
T
T
G
G
C
A
A
A
A
C
C
C
C
A
T
C
5550
T
C
T
A
C
T
A
A
A
A
G
T
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
A
A
A
T
T
A
G
T
T
G
G
G
T
G
T
5600 |
REPEAT
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
A
G
G
A
G
G
C
T
G
A
A
G
T
A
G
G
A
G
A
A
5650
T
T
G
A
A
C
C
C
A
G
G
A
C
A
G
G
G
A
G
T
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
C
A
C
5700
T
C
C
A
G
T
C
T
G
G
G
T
G
A
C
A
A
G
A
G
C
G
A
G
A
C
T
C
C
C
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
5750
TAGTAGTTTG AAAGTAAAGG GCTAAAGATA CCTTAACTAA ATATCTACTG
5800
TTCATTAACT ATCAGCAGTA AAGCATGCCC GGTAGTATTG TTGATGTGCA
5850
TTTGTTTC
G
C AATTTGG
G
AG CTGTTTCTGT GTCTTAAATG ATTGCTGCAA
5900 |
var(5859):[A:0.01]
|
var(5868):[:0.01]
ACATACCAGT AATA
G
G
C
T
G
G
G
C
G
T
A
T
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
T
C
G
C
A
A
C
A
C
5950 |
REPEAT
|
var(5947):[G:0.01]
T
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
6000 |
var(5994):[A:0.01]
G
C
C
T
G
G
C
C
A
A
A
A
T
G
G
T
G
A
A
A
C
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
G
C
C
G
A
A
A
A
A
6050
T
T
A
G
C
T
T
G
G
T
G
T
G
G
T
G
G
T
G
C
A
C
G
C
C
T
A
T
A
G
C
A
C
C
A
G
C
T
A
C
T
A
G
G
G
A
G
G
C
T
6100 |
var(6081):[T:0.40]
G
A
G
A
C
A
G
A
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
T
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
6150
G
A
T
T
G
T
G
C
C
A
T
T
G
T
A
C
T
C
C
A
G
C
C
T
T
A
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
6200
A
A
A
A
A
CATAC CAGTGATAAC TACAAACTTA CTCTCTATCA CATTTTGGGA
6250
GTTTAG
G
T
G
C
T
G
G
A
G
A
A
T
G
C
C
G
A
A
G
G
T
G
C
C
A
G
A
A
C
C
A
C
C
C
C
T
T
C
A
G
T
T
G
T
6300 | Exon 4
V L E N A E G A R T T P S V V 91
G
G
C
C
T
T
T
A
C
A
G
C
A
G
A
T
G
G
T
G
A
G
C
G
A
C
T
T
G
T
T
G
G
A
A
T
G
C
C
G
G
C
C
A
A
G
C
G
A
C
6350
A F T A D G E R L V G M P A K R 107
A
G
G
C
T
G
T
C
A
C
C
A
A
C
C
C
A
A
A
C
A
A
T
A
C
A
T
T
T
T
A
T
G
C
T
A
C
C
A
A
G
C
G
T
C
T
C
A
T
T
6400
Q A V T N P N N T F Y A T K R L I 124
G
G
C
C
G
G
C
G
A
T
A
T
G
A
T
G
A
T
C
C
T
G
A
A
G
T
A
C
A
G
A
A
A
G
A
C
A
T
GT GAGTAACAGC
6450
G R R Y D D P E V Q K D I 137
AAAAGTTTTT TGCAAAAAGC AGTTATTTGC AAGGGCCACA CAGAAGAGCC
6500
TCAGCATGTT GATGAGGATC CCTGGAGCAC CTTACTTTAG TAATTTTACT
6550
TATTGTCCCT AGGGGAAATC TGTACCACTG CCAAAAGGGT AATCCCTTTA
6600
AAAAATTCAT TTTT
G
G
C
C
A
G
T
G
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
6650 |
REPEAT
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
G
G
A
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
6700 |
var(6681):[A:0.04]
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
A
C
T
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
6750
T
G
T
G
C
A
T
G
A
T
G
G
T
G
G
G
T
G
C
C
T
G
T
A
A
T
C
C
C
G
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
A
C
6800
G
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
A
C
G
G
T
G
G
T
T
G
C
G
G
T
G
A
G
C
C
G
A
G
A
T
C
A
6850 |
var(6820):[A:0.01]
C
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
T
G
C
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
G
A
A
A
A
6900
A
A
A
TTCATTT TTGTCTTTAC AGATTAGGTC TTTGCTATGT ATTGACATGA
6950
TACATGAAAA TTTGCAAAGC ATTCCTA
A
A
C
C
A
C
A
T
A
G
T
T
C
A
G
T
G
T
T
G
A
A
T
7000 |
NOT SCANNED
A
C
A
T
A
A
G
G
C
A
G
A
A
A
T
G
G
C
A
T
A
G
G
T
T
C
T
A
T
C
A
T
G
T
G
T
T
G
A
T
C
C
A
G
T
A
C
A
G
A
7050
A
A
A
A
G
A
C
T
T
G
A
T
T
T
T
T
C
T
T
T
T
T
T
C
T
T
C
C
C
C
C
C
T
C
C
C
A
A
T
A
G
A
A
A
C
G
G
G
G
C
7100 |
REPEAT
T
C
A
C
T
A
T
G
T
T
G
C
C
C
A
A
G
T
T
G
G
T
G
T
T
G
A
A
C
T
C
C
T
G
G
A
C
T
C
A
A
C
T
G
A
C
C
C
T
T
7150
C
C
A
C
C
C
C
A
G
C
C
T
C
C
C
A
A
A
T
T
A
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
7200
C
A
G
C
C
T
G
C
C
T
T
T
T
T
C
T
A
A
A
A
T
A
G
A
C
A
T
A
C
T
A
G
A
G
G
C
T
C
G
G
T
G
G
G
G
T
G
A
C
T
7250 |
REPEAT
C
A
C
A
C
C
T
G
T
A
A
T
C
C
T
A
A
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
7300
G
A
G
A
C
C
A
G
C
C
T
G
G
A
C
A
A
C
T
T
G
G
G
G
A
A
A
A
G
C
C
A
C
C
T
C
T
G
C
A
A
A
A
A
A
T
A
C
A
A
7350
A
A
A
A
G
A
G
C
C
A
A
G
C
T
C
G
G
T
G
G
T
G
C
G
C
G
C
C
T
A
T
A
G
T
C
C
C
A
G
C
T
A
C
T
A
G
T
G
A
G
7400
G
C
T
T
G
A
G
C
G
T
T
G
A
G
G
G
G
C
G
G
A
G
G
T
T
C
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
A
T
G
C
C
A
T
T
G
7450
C
A
C
T
C
C
A
G
T
C
T
G
A
G
T
A
A
T
A
G
C
A
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
7500
A
C
T
A
G
A
A
G
C
A
T
A
G
G
T
A
G
A
G
T
T
T
C
C
T
G
T
TGT ATACAAAATG TTTTAG
G
C
C
T
7550 |
REPEAT
A
G
A
G
C
A
G
T
G
G
C
T
C
A
T
G
T
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
A
G
G
A
G
G
C
A
G
A
G
G
T
G
G
7600
A
A
A
G
A
C
T
G
T
C
T
G
A
G
G
C
T
G
A
G
T
T
T
A
A
G
A
C
C
A
T
C
T
A
G
G
C
C
C
A
C
A
A
G
G
C
A
A
G
A
7650 |
var(7639):[A:0.40]
C
T
G
T
G
T
G
T
G
T
C
T
C
T
G
T
C
T
A
T
A
T
A
T
A
T
A
T
A
A
A
T
T
A
AATATT TTTAAAAATT
7700 |
var(7682):[C:0.04]
TAAACAGCTT TATTGAGCTT GAGTAGAATA TGAATTCTGT ATGCATGGAG
7750
TTGC
G
T
G
G
A
C
C
T
C
T
A
T
G
A
C
T
G
G
C
T
T
C
T
T
T
C
A
C
T
T
A
G
C
A
T
G
T
T
T
T
C
A
A
G
G
T
7800 |
REPEAT
T
C
A
T
C
C
A
T
G
T
T
G
T
A
G
C
A
T
G
T
G
T
C
A
G
T
A
C
T
G
C
A
T
T
C
C
T
T
T
T
T
A
T
G
G
C
C
A
A
A
7850
T
A
A
T
A
C
T
A
T
A
C
T
G
T
A
T
G
G
A
C
A
T
A
C
A
G
C
A
C
A
T
T
T
T
G
T
T
T
A
T
C
C
A
T
T
T
G
T
C
A
7900
A
G
T
G
A
T
G
G
A
C
A
T
T
T
G
A
G
C
T
G
T
T
T
C
T
G
C
T
T
T
T
T
G
G
C
T
A
T
T
A
G
A
A
A
T
A
A
T
G
C
7950
T
G
C
C
A
T
A
A
A
C
A
T
T
T
G
T
G
T
A
C
A
A
G
T
T
T
T
T
G
T
G
T
G
G
A
C
A
T
A
A
A
T
A
T
T
T
C
C
A
T
8000
T
T
G
T
C
T
T
A
G
A
G
A
G
T
A
G
A
A
T
T
G
C
T
G
G
A
T
C
A
T
A
C
A
G
T
A
A
C
G
G
T
T
T
C
A
T
C
A
A
A
8050
T
T
A
T
T
C
T
A
A
A
G
T
G
G
C
T
G
C
A
A AAATCTTCTG CCTGGGGCGC TAAATAAAGA
8100
ATGTTGAGGT TTCATCATAA TGTTTTTATA TGTTAGTGAT TGCTTTCTTT
8150
TTATTTATTT ATTTCATTTT GCCTTGTAAT TCTCATAAAC CATGTTAGTG
8200
ATTGCTTTCT AAAGAATTTC ACAAACTGTC ATTTGTTGGC CATGAATGAG
8250
TCTCTTGGGG TGGAAGATGG ATGTTCATGG TATGTGGTAA TTTTGTCATG
8300
GTAAGTTGTT CAGGTAGTTT TCTCTAATAG AATTTTTGTG TCTTACAG
T
A
8350 | Exon 5
137
A
A
A
A
T
G
T
T
C
C
C
T
T
T
A
A
A
A
T
T
G
T
C
C
G
T
G
C
C
T
C
C
A
A
T
G
G
T
G
A
T
G
C
C
T
G
G
G
T
T
8400
K N V P F K I V R A S N G D A W V 154
G
A
G
G
C
T
C
A
T
G
G
G
A
A
A
T
T
G
T
A
T
T
C
T
C
C
G
A
G
T
C
A
G
A
T
T
G
G
A
G
C
A
T
T
T
G
T
G
T
T
8450
E A H G K L Y S P S Q I G A F V L 171
G
A
T
G
A
A
G
A
T
G
A
A
A
G
A
G
A
C
T
G
C
A
G
GTGAGTG GGTTTAGTTC ACATCTGGGA
8500
M K M K E T A 178
AAG
A
G
TTCTA A
G
AACAATGA TT
C
CTGTGAG ATCACTAGCT CCCTGTGCTC
8550 |
var(8504):[:0.99]
|
var(8512):[C:0.01]
|
var(8523):[A:0.01]
CAGCTCCTGT AGATGAATCT GTGGTCCCTT TTGTATAGAA AAACTAGGAA
8600
TGGCAAAACT GTGTTATACT TCATGCTTTC CCTGCAGATT GAATTAATCT
8650
TCAAATCTCA CTAATGGTGG CTGGCTTGTT TCTTTTTTTC CAGTAGGGGG
8700
TAATGTTCTA TATTGAAAGC CAC
A
A
G
A
C
T
A
C
A
C
A
T
T
A
A
G
C
T
T
T
T
G
T
C
C
C
T
8750 |
NOT SCANNED
G
T
T
A
G
G
T
A
T
A
A
A
T
T
A
G
A
A
C
T
T
C
C
T
A
T
T
T
G
A
A
G
T
G
G
C
T
G
T
T
G
T
A
A
G
T
C
T
A
A
8800
A
G
G
T
C
A
T
T
G
T
A
G
T
T
T
A
G
T
G
A
A
C
C
T
T
C
A
C
T
A
A
A
A
T
G
T
T
G
A
A
A
G
A
G
T
G
A
T
C
T
8850
T
A
G
G
G
G
T
T
T
C
T
G
T
T
T
T
T
T
G
G
G
G
T
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
T
T
T
T
G
A
G
A
C
A
G
A
8900 |
REPEAT
G
T
T
T
C
A
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
G
G
C
T
C
A
8950
C
C
A
A
A
G
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
A
T
C
C
T
G
C
C
C
T
C
T
C
C
C
T
C
C
9000
C
C
C
C
C
A
A
C
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
C
G
C
C
A
T
C
A
T
G
C
C
T
A
G
C
C
A
C
T
T
9050
T
T
G
T
G
T
T
T
T
T
A
G
T
A
A
A
G
A
G
A
T
G
G
G
G
G
T
T
T
C
T
T
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
9100
C
T
C
C
A
A
C
T
C
C
C
G
A
C
A
A
A
T
C
A
G
G
T
G
A
T
T
C
A
T
C
C
G
C
C
T
C
A
G
C
C
T
C
T
C
A
G
A
G
T
9150
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
G
T
G
C
C
T
G
G
C
C
G
G
C
C
G
A
T
C
T
T
G
G
G
T
T
9200 |
REPEAT
T
G
T
T
T
G
T
T
T
G
T
T
T
T
G
A
G
A
C
A
A
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
A
G
C
T
A
G
A
G
T
9250
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
T
G
T
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
A
C
9300
A
A
T
T
C
T
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
A
A
A
T
G
A
C
A
G
G
C
A
T
G
C
G
C
C
A
9350
C
C
A
T
G
C
C
T
G
A
A
T
A
A
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
T
C
C
A
T
A
T
9400
T
G
G
T
T
A
G
G
C
T
G
G
T
C
T
C
A
A
A
A
C
T
C
T
C
A
A
C
C
T
T
A
G
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
A
9450
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
G
A
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
G
G
C
C
TGA
9500
TCTTGGGTTT TTAACCAGTG TATTTACTTG GAGTGTTTCC TGCAAGGACA
9550
TATTAGGTCA CTTACCAAAA GACTGAAGAA TGTTGTCTGT GGCTGCAAAA
9600
GGATGACACA GGTTGTTGGG CTATATTAAT AATTCTGTTC TGACAGAATT
9650
CCATGATTGA ATTTCATTCT TTTCCAG
A
A
A
A
T
T
A
C
T
T
G
G
G
G
C
A
C
A
C
A
G
C
A
9700 | Exon 6
E N Y L G H T A 186
A
A
A
A
A
T
G
C
T
G
T
G
A
T
C
A
C
A
G
T
C
C
C
A
G
C
T
T
A
T
T
T
C
A
A
T
G
A
C
T
C
G
C
A
G
A
G
A
C
A
9750
K N A V I T V P A Y F N D S Q R Q 203
G
GTGAGGTCA ATTAGCATTC TTATTCACAA AAAGTAAGGT GCCTGGGATG
9800
203
GAAGGGTACA AAAATGTTTT TCTCTTTGTT TTCTCTAG
G
C
C
A
C
T
A
A
A
G
A
T
9850 | Exon 7
A T K D 207
G
C
T
G
G
C
C
A
G
A
T
A
T
C
T
G
G
A
C
T
G
A
A
T
G
T
G
C
T
T
C
G
G
G
T
G
A
T
T
A
A
T
G
A
G
C
C
C
A
C
9900
A G Q I S G L N V L R V I N E P T 224
A
G
C
T
G
C
T
G
C
T
C
T
T
G
C
C
T
A
T
G
G
T
C
T
A
G
A
C
A
A
A
T
C
A
G
A
A
G
A
C
A
A
A
G
T
GTAAG
9950
A A A L A Y G L D K S E D K V 239
TTTGTGCAGT AAATTTCTCA CCTGGATGTG TGAAACTAAA GTGTCACTTA
10000
ATTTT
T
T
A
G
T
A
A
T
T
G
A
G
C
C
T
T
T
T
A
C
A
G
T
G
C
T
T
T
T
A
C
T
G
A
T
T
T
T
A
A
G
T
C
T
G
10050 |
NOT SCANNED
T
A
T
T
G
T
C
T
T
T
G
T
T
T
T
T
T
C
A
T
T
T
C
A
A
A
A
C
C
A
T
T
C
T
T
T
T
C
T
T
T
T
C
T
T
T
T
G
G
G
10100
C
C
A
T
G
G
T
A
A
T
T
T
A
A
C
T
A
G
T
A
C
A
T
A
T
C
T
C
A
G
G
G
A
A
A
T
A
G
C
T
T
A
G
A
T
T
A
T
C
T
10150
G
T
A
T
T
T
G
G
T
T
A
T
T
G
A
A
A
T
T
T
A
T
A
T
C
C
T
G
G
T
G
A
T
A
G
G
T
T
T
T
G
T
T
C
T
T
A
A
G
G
10200
A
T
T
T
C
T
T
T
T
C
T
TTTTTTTTT CACAAATCAT TTACAG
C
A
T
T
G
C
T
G
T
A
T
A
T
G
10250 | Exon 8
I A V Y 243
A
T
T
T
A
G
G
T
G
G
T
G
G
A
A
C
T
T
T
T
G
A
T
A
T
T
T
C
T
A
T
C
C
T
G
G
A
A
A
T
T
C
A
G
A
A
A
G
G
A
10300 |
var(10294):[A:0.01]
D L G G G T F D I S I L E I Q K G 260
G
T
A
T
T
T
G
A
G
G
T
G
A
A
A
T
C
C
A
C
A
A
A
T
G
G
G
G
A
T
A
C
C
T
T
C
T
T
A
G
G
T
G
G
G
G
A
A
G
A
10350
V F E V K S T N G D T F L G G E D 277
C
T
T
T
G
A
C
C
A
G
G
C
C
T
T
G
C
T
A
C
G
G
C
A
C
A
T
T
G
T
G
A
A
G
G
A
G
T
T
C
A
A
G
A
G
A
G
A
G
G
10400
F D Q A L L R H I V K E F K R E 293
TGAGTTAC
A
G
A
G
A
G
A
G
G
T
G
A
G
T
T
A
C
CAATG TGGTTAATAT GTAGACGTTG
10450 |
var(10409):[:0.99]
GGATATTGAG AAATTCTTTG TTCAGATTGC TCTTTGCTTT GTTTA
C
GAGT
10500 |
var(10496):[T:0.05]
TCAGTTCAAC CCCCTTATTC TAGACACAGA TACTCTTTTC AGAATATTTT
10550
TTTTCCCTAC ACATTAAGGG TAATAAAAAG TAATTCATGC TTATATATAA
10600
AGGTATGACT CCATTTTGTG TTGTTCCACC TTATTACTGC AGTTTATTTA
10650
TCACCTCACT AATGCTGGTG TTTGGTGTTC AATGTCTTCA CTTTATAG
A
C
10700 | Exon 9
T 294
A
G
G
G
G
T
T
G
A
T
T
T
G
A
C
T
A
A
A
G
A
C
A
A
C
A
T
G
G
C
A
C
T
T
C
A
G
A
G
G
G
T
A
C
G
G
G
A
A
G
10750
G V D L T K D N M A L Q R V R E 310
C
T
G
C
T
G
A
A
A
A
G
G
C
T
A
A
A
T
G
T
G
A
A
C
T
C
T
C
C
T
C
A
T
C
T
G
T
G
C
A
G
GTGAGACAC
10800 |
var(10767):[G:0.38]
A A E K A K C E L S S S V Q 324
GGAAAATTCG AGCAGTCTTG ATGGATATTT TCAGC
C
GGAG CTTATTTAAA
10850 |
var(10836):[T:0.01]
ATAAATAGTA TTTTCTAATT GGCCTAATGT CAGTTGAGTT TTTTTTGTTT
10900
GTTTGTTTTT TCAGTTTTCT GGTTTCTAGA GACCTTTGCC ATGAGCACAG
10950
GGACAGTAAG GTCTTTAGTT TCTTTATGAG CTGAAATTTT TTTAGCCACT
11000
CAAATCAGTT ACATATACTG GAGCTAAATA ATGTGTGAAT GATGTGCTGG
11050
GTGTACTTGT TTGCCTTTCA GTTAAAGACA TTTATTTTAA AACCTGCTCT
11100
GGCAGTGTTT AAAACTAGAA TTACTAGCTT GGAAAAACTG CTGTCTTAAC
11150
TGACAATAT
T
A
A
A
T
A
A
C
C
T
C
T
C
T
C
C
T
T
G
T
G
A
A
T
T
G
G
A
G
A
G
T
C
T
C
T
G
A
G
T
G
11200 |
NOT SCANNED
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
T
T
T
G
C
T
C
C
T
G
T
T
11250 |
REPEAT
G
C
C
C
A
G
G
C
T
A
C
A
G
T
G
C
A
A
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
C
G
C
A
A
C
C
T
C
T
G
C
C
11300
T
C
C
T
G
G
G
T
T
C
A
A
G
T
G
A
T
T
T
C
T
C
C
T
G
C
C
T
C
G
A
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
11350
T
A
C
A
G
G
T
G
T
G
C
A
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
A
T
A
G
T
A
C
A
G
A
11400
C
A
G
G
G
T
T
C
T
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
T
T
G
G
T
C
C
T
T
G
G
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
11450
T
G
A
T
T
G
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
A
A
T
G
G
G
C
G
T
G
A
G
C
C
11500
A
C
T
G
A
G
C
C
C
G
G
C
T
A
A
T
T
G
T
C
T
C
T
C
A
C
T
T
A
A
T
A
A
T
T
T
G
A
A
A
A
A
T
T
A
G
C
T
G
G
11550 |
REPEAT
T
C
A
T
A
G
T
C
T
A
T
A
C
A
A
C
T
G
T
G
G
T
C
C
C
A
G
C
C
A
C
T
C
C
A
G
A
G
G
C
T
A
A
G
A
G
G
A
T
T
11600
G
T
T
T
G
A
G
C
C
C
A
G
G
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
T
G
A
T
C
A
C
A
C
C
A
T
T
T
C
11650
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
A
T
G
A
G
A
C
C
C
T
G
T
G
T
C
A
A
A
A
A
A
T
G
A
C
A
A
T
A
A
T
11700
T
T
G
A
A
T
C
A
C
C
A
G
T
C
T
A
G
A
A
A
A
A
G
A
G
C
T
G
A
A
G
C
T
T
G
T
G
C
A
A
G
T
T
T
C
C
G
T
C
T
11750
G
T
G
A
GCATCA GATTTACACA GCCTCTTTGT CAGTTTGGTT AGCTCCAGTT
11800
CTGAGAGGTG AAACTTGTCT TCACCACCAA GAATAGAATT ATATAAACCA
11850
TTTTAGATCT GTGTTAGAGA CCCATGAAGA TAGAAA
G
CAG CAGATCTATT
11900 |
var(11887):[A:0.01]
TCCGGTGTCT TGGGTGACAG CAGGAAAAGC AGAGCGGTGA CACCTTTATT
11950
TTGATCACCC ACAAGGGAAG AGGTATTTAT GATGGTTGTC ACTGTGGTTG
12000
CTGCTAATGA ACCTTCCCCT CAAACCTGGA TTTTTTTTTT TAAGTGGCTG
12050
TGAGGAGTGA CATAGTTATA CACACGCATC CATGGTCTTG CTGATGTTAC
12100
TTTGCCCCTG CTATCATGGA GTGGCAGAAC ATTGCAACGT TGGTTAGGGT
12150
TGAGGTTGAA ATACCTGGCA CTGCCAGAAG ATAATTCTTC CCAGGGATTT
12200
GACATTTGGG GTAGGGGATG CGAGGTGTTG GAAGAGATTG GTTGGTTTTA
12250
ATTAGTGTGG CTGCA
T
C
C
T
A
T
T
G
A
T
A
G
A
C
A
T
T
T
T
G
A
T
T
G
T
T
T
T
C
C
A
G
T
G
T
12300 |
REPEAT
T
T
A
T
T
A
T
A
G
C
A
A
G
A
T
G
T
A
T
T
G
A
G
C
A
T
C
C
T
T
A
C
A
C
A
T
T
C
A
G
T
T
T
T
G
C
A
T
A
G
12350
G
T
G
A
T
T
T
T
A
A
A
T
C
T
A
T
A
G
A
A
T
A
A
A
T
T
C
T
T
A
G
CGTTTATTA C
C
CTCATGCA
12400 |
var(12392):[T:0.01]
GATTATATTG TGGTTTGGAA AGATGGACAT TAATTAGAAC AGATTAGTAA
12450
ACGTTAAACT AGAAGTGATA CAAAGTAAA
G
G
T
T
A
A
G
G
G
T
G
G
T
T
C
T
G
C
A
A
G
12500 |
REPEAT
C
A
T
T
C
T
G
C
T
G
G
G
G
T
T
C
A
A
G
T
C
C
C
C
C
T
T
G
T
A
T
T
G
C
T
T
A
T
T
A
A
T
T
G
G
T
G
A
T
C
12550
T
T
G
G
A
T
G
A
A
T
T
A
A
C
A
T
T
A
C
T
G
T
T
A
C
T
T
A
T
C
T
A
C
A
A
A
A
C
A
A
G
G
A
T
A
A
T
A
G
T
12600 |
var(12599):[C:0.01]
G
G
T
A
C
T
C
T
T
C
C
C
C
T
A
A
G
A
G
T
T
G
T
G
A
G
C
A
T
T
A
C
C
A
A
G
T
T
C
A
T
A
A
A
T
A
T
T
A
C
12650
A
T
G
C
T
T
A
G
G
A
A
A
A
C
A
T
A
G
G
A
A
A
T
T
G
T
G
A
A
T
A
C
T
C
T
A
A
A
T
G
T
A
A
G
T
T
A
C
T
A
12700 |
var(12666):[:0.04]
|
var(12672):[G:0.01]
T
T
AATGTAAC AAGTGGTAAA AATGCAGTTA CAATTTAAGA AGGGGCCT
C
A
12750 |
REPEAT
C
T
T
T
G
G
G
T
G
G
C
C
A
G
G
G
C
A
G
G
A
A
T
A
T
C
A
C
T
T
G
A
G
C
T
C
A
G
G
A
A
T
T
G
G
G
G
A
C
C
12800
A
G
C
C
T
G
G
G
C
A
A
A
A
T
A
G
T
G
A
G
A
A
C
C
C
C
C
G
T
C
T
C
T
A
C
A
A
A
A
C
T
A
G
C
T
G
G
G
C
G
12850
T
G
G
T
G
C
A
C
T
A
C
A
C
C
A
C
A
G
G
T
G
C
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
A
12900
C
T
G
A
G
G
C
A
C
A
A
G
A
A
T
C
T
T
T
T
G
A
G
C
C
C
A
A
G
T
G
T
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
12950
G
T
G
A
A
T
G
C
C
A
C
T
G
C
A
C
C
C
C
A
A
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
AGGT CTCTTAAAAG
13000
CAATCTAAGA AGG
G
G
C
C
G
C
A
C
G
C
A
G
T
G
G
C
T
C
A
C
A
T
C
T
G
T
A
A
T
C
T
C
A
G
C
A
C
13050 |
REPEAT
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
A
G
G
T
G
A
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
C
A
G
A
C
C
A
13100 |
var(13067):[C:0.37]
G
C
C
T
C
G
C
C
A
A
C
A
C
G
G
T
G
A
A
A
C
C
G
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
13150
C
C
A
A
G
T
G
T
G
G
T
T
G
C
A
G
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
T
A
G
G
C
T
G
A
G
G
13200
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
C
A
G
A
T
G
13250
G
C
A
C
C
A
C
T
G
C
A
G
T
C
C
A
G
T
C
T
G
G
G
T
G
A
C
T
G
A
A
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
13300
A
T
A
A
A
A
A
T
G
A
A
A
A
A
T
A
A
A
A
A
TAATAAAAAT AATCTAAGAA GGTACCTGAG
13350
AGAGGTGTTC AGCATAACAA
G
AATAGCATC TGAGAGATGA GTTTATCAGA
13400 |
var(13371):[A:0.01]
AAAA
G
ATAAA TGGGCATGTG TAATGGGTTA AGAGTAAGGC TCTCAGGTGA
13450 |
var(13405):[C:0.01]
AGACCTGAGA AAGGGCCAGA GTGGCCAAAA GGGCAGAGTG AAGATTGGGG
13500
TCGGTTGTTG GTGGGCATGG AAAATGAGGC TAGAG
C
A
G
G
C
T
T
G
T
C
C
A
A
C
C
13550 |
REPEAT
T
G
C
A
G
C
C
T
A
G
A
A
T
G
G
C
T
T
T
G
A
A
T
G
T
G
G
C
C
C
A
A
C
A
C
A
A
A
T
T
T
G
T
A
A
A
C
T
T
T
13600
C
T
T
A
A
A
A
T
A
C
T
G
A
G
G
G
T
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
A
A
G
C
T
C
A
T
C
A
G
C
13650
T
A
T
T
G
T
T
A
G
T
G
T
T
A
A
T
G
T
A
T
T
T
T
A
T
G
T
G
T
G
G
C
C
C
A
A
G
G
A
A
G
C
C
A
A
A
A
G
A
T
13700 |
var(13665):[G:0.01]
T
G
G
A
T
A
C
C
C
T
T
G
GGCTAGAG GCTTTATAGA TTTGGGATTT GGTGTCTCTC
13750
CCTAGATAAG TGAATACAAA CCCCAGAGGA GTTGAGGATA GTAACATGGT
13800
CATGTGTCGA TTTGTGAAAA GCCCTTTGGC TGGAGTAGAG TGGAGAATTG
13850
TGAAGGGCAG AAGGCACCCT GAGTGGGTGT AGGGGGGCTG TTGGTAACCA
13900
TGTGTTGAGA AAAGACTTGG ATGAGAGTGA GAGTAAGACA CAAGTGATTG
13950
GGTTTGAGAG AGGAGGGTAA GGAAAGAACA TTGTGATAGA TGTTGGACTG
14000
GTTGTAGAGG GTTGAGAGTT AGTGCTGGAG ATTTTCAGGT TGCCATTAGC
14050
TTTTAGTGTT TAGAGTCGTG CTACTATAA
T
A
G
C
C
A
A
A
T
A
T
G
G
G
T
T
T
T
G
A
A
14100 |
REPEAT
T
T
A
A
T
T
A
A
A
A
T
T
A
A
A
T
A
A
C
A
T
T
T
A
A
A
A
T
T
A
C
A
T
T
T
C
T
C
A
G
T
T
A
C
A
C
T
A
G
T
14150
C
T
T
A
T
T
T
C
A
A
G
T
G
C
T
C
A
G
T
A
G
T
C
A
T
G
T
T
A
G
T
G
G
T
T
G
C
T
G
A
A
T
T
G
A
G
C
A
G
C
14200
A
T
A
A
G
G
A
G
C
A
T
T
T
T
C
A
T
T
G
T
C
A
C
A
G
A
A
A
A
T
T
C
T
A
C
T
G
G
A
T
A
G
C
A
T
T
G
ATT
14250
TAGATAATTC TGTGTTCTGA TTTGGTTAAT CAACATTTTG CAAAAAAGAA
14300
ATTGTCAATA ATATTTAGGT ATCACTATTC TACAGATGGT GTGTTAACTC
14350
TATTTATTAA GTATTCAAAT GTTTAGGATA CTTCTCCTGA AGAAAGGTGG
14400
TTAAGGACTC ACTCTCAGTT ACACACTGTA AGATCCCATG TTGTACTGGG
14450
ATTTGGGATT TATTAAATAC TGGATATTAC ATGGTGTGAC TGTCAGCTGC
14500
TCTCCATGGA TGTGATGGCC ATACAAGTCA GTCCTCATAC ATTAATGAGA
14550
GCATGTCTGT AGCTTTCGTA TCACTTGTAA ACGTCCTGGA ACTTACAGAG
14600
CCCAGGGTTA ATGGCATGTT ATTTGGTTCA GAACATAAC
T
T
T
G
A
C
A
T
T
T
C
14650 |
NOT SCANNED
T
C
T
T
C
A
C
C
T
A
C
A
T
G
G
G
A
T
A
T
T
T
T
T
A
A
A
A
C
T
T
G
G
T
G
A
A
G
G
A
A
A
A
C
A
T
C
A
G
T
14700
A
G
T
G
T
G
G
T
T
C
T
A
A
T
G
A
A
T
A
T
G
T
A
G
T
G
G
C
A
G
A
A
T
A
G
T
T
C
T
T
T
A
T
C
T
T
C
T
G
A
14750
A
T
G
G
G
G
A
T
T
T
T
T
T
T
C
C
T
G
C
T
T
A
T
C
T
G
C
T
G
C
A
T
T
C
T
T
G
T
T
A
A
T
A
A
C
T
A
T
A
A
14800
A
C
T
T
T
A
T
T
A
A
A
A
C
A
T
T
C
T
A
T
A
G
T
G
C
T
T
A
T
C
T
C
T
G
G
G
G
A
G
A
T
A
A
A
A
C
A
T
T
G
14850
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
C
A
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
14900 |
REPEAT
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
G
G
C
T
C
A
C
C
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
14950
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
15000
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
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
T
T
T
C
A
C
15050
C
A
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
15100
C
G
C
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
C
G
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
G
G
C
A
A
15150
A
A
C
A
T
T
G
C
A
T
C
T
T
A
A
A
G
A
G
T
A
A
C
T
A
T
T
C
T
T
G
G
C
C
G
G
G
T
G
G
G
G
T
G
G
C
T
C
A
C
15200 |
REPEAT
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
T
G
A
G
G
C
A
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
15250
A
A
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
C
A
A
C
A
T
G
C
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
15300
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
15350
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
15400
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
C
G
A
T
A
G
A
A
T
G
A
G
A
15450
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
T
A
T
T
C
T
T
G
G
T
G
A
C
T
A
T
T
C
A
T
T
T
A
A
A
T
T
15500
A
G
A
T
C
T
C
A
C
C
C
T
C
C
C
T
T
T
G
G
T
T
T
T
G
C
A
A
G
T
C
T
T
C
T
G
T
C
C
T
A
G
G
G
C
A
T
G
G
T
15550
CATATTTTAG TTGAAATAAT AAATGTAACC GTCATTTGGC CTGCTCGCTG
15600
ACATGCAATT AAACATTTCC TTTGCAG
A
C
T
G
A
C
A
T
C
A
A
T
T
T
G
C
C
C
T
A
T
C
T
15650 | Exon 10
T D I N L P Y L 332
T
A
C
A
A
T
G
G
A
T
T
C
T
T
C
T
G
G
A
C
C
C
A
A
G
C
A
T
T
T
G
A
A
T
A
T
G
A
A
G
T
T
G
A
C
C
C
G
T
G
15700
T M D S S G P K H L N M K L T R 348
C
T
C
A
A
T
T
T
G
A
A
G
G
G
A
T
T
G
T
C
A
C
T
G
A
T
C
T
A
A
T
C
A
G
A
A
G
G
A
C
T
A
T
C
G
C
T
C
C
A
15750
A Q F E G I V T D L I R R T I A P 365
T
G
C
C
A
A
A
A
A
G
C
T
A
T
G
C
A
A
G
A
T
G
C
A
G
A
A
G
T
C
A
G
C
A
A
G
A
G
T
G
A
C
A
T
A
G
G
A
G
A
15800
C Q K A M Q D A E V S K S D I G E 382
A
G
T
G
A
T
T
C
T
T
G
T
G
G
G
T
G
G
C
A
T
G
A
C
T
A
G
G
A
T
G
C
C
C
A
A
G
GTA TGGACCAGTG
15850
V I L V G G M T R M P K 394
GAATTCTGTC GTGGAGAGAG AGGGCTGGCG CATAGTGTAT TCTTGGGACA
15900
GGTGGCACAA ATATATGGCC CATTCTGCTG G
G
GTGACCTA AAAGGGAGAT
15950 |
var(15932):[A:0.48]
GAGATTATAT ACTCACTAAA GAATTCTTTT CTGTTTGTTT TGTT
A
A
A
A
T
T
16000 |
REPEAT
G
A
A
A
A
A
T
A
G
G
C
C
G
G
G
C
A
T
G
G
T
G
G
T
T
C
A
C
G
C
C
T
A
T
A
A
T
C
C
C
A
A
C
A
C
T
T
C
G
G
16050 |
var(16012):[T:0.36]
G
A
G
G
C
T
G
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
A
T
G
A
G
T
C
T
A
ATTTATATA TATATATGTA
16100
TGTATGTATG TATGAAAAAT TAGGGAGGGG CAGAATTTCT TTAGGGGCAG
16150
TAGCAGGGAG GATCCCGAAC TCAGTCATAG AATTTTTAGG ATTGAAACAA
16200
AGTTTGAGGT CAGAGGGGAA CATAAAACCT TGGTAATACC CCGCCCCCGG
16250
CCACCATCTT TGTACATGTG TCTTTGCAGC TTAGTGCATC TCTTTGACAA
16300
AGATTTGTGC AATGATGTAT TTTATTCAAC ACATCATTCT GAAAGAACGT
16350
GTGGAAAACT AATGACTGAG CACAAACCTG TTGAAGATGC AGTTCTTCTT
16400
GGTAGCCTAA ATAGGATTAT CTTGGACCTA AGATAGTGAC CTTGTTTTTT
16450
TTCTTAATTT TTCCATTGAA ATACATGGCC TTAAGGAAAT ATGCAAAAAA
16500
AAAAAAAATG AACCTGGAAA AAAA
A
G
G
T
C
C
T
G
G
A
C
C
A
G
G
T
G
G
A
T
G
C
C
T
C
A
16550 |
NOT SCANNED
T
A
T
A
T
T
A
A
G
A
A
A
T
C
C
C
C
G
A
G
G
C
C
G
G
G
T
A
C
A
G
T
G
G
C
T
T
A
C
G
C
C
T
G
T
A
A
T
C
C
16600 |
REPEAT
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
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
A
G
A
G
A
T
C
G
A
G
16650
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
T
A
A
A
A
A
16700
A
T
T
T
G
G
T
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
T
A
G
G
A
G
A
16750
A
T
G
G
C
G
T
G
A
A
C
G
C
A
G
G
A
G
G
T
G
G
A
G
C
T
T
G
C
G
G
T
G
A
G
T
G
G
A
G
A
T
T
G
C
G
C
C
A
C
16800
C
G
C
A
C
T
C
C
A
G
C
C
T
G
A
G
C
G
A
C
A
C
A
G
C
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
16850
A
A
G
A
A
G
A
A
G
A
A
A
A
A
GTATCC CCGATACTAT TCAAATGGAA CTTTATCACT
16900 |
var(16853):[A:0.08]
AATAAACACA AGGGAAGACC ATGCCCCATG TTAGCAATGC AAATTATTGC
16950
TACAGCTGCC TATGATAATT TGGTCTT
T
AG TTGATAATAT ACAAGAGAAT
17000 |
var(16978):[G:0.05]
GTGGACTTCT AAGTCCCCTT GCCTTGCATC CTCTGTTTCA AATGATTTAA
17050
TGTGTTGTGT AGGAAAGCAG ATAATAAAAC TTAGGAGAAT CCTTCCCAGA
17100
TTTACAAGGG TCATGAAGGA GATACTTCTA TAGGTATAAA GT
G
TATGAGT
17150 |
var(17143):[A:0.01]
GTTAGAAGAT CATTAGCAGG AACCCAAGTA CGAAATGGTT ATTTGAATAA
17200
A
C
ATTCTCAG ATTTGAGTTA GCCTGTCTTG AGATCTGGCT GGGAGCGTAG
17250 |
var(17202):[T:0.01]
GACACGTGCT CCCTTTTGTT CTGCTCAGGT AGTTCCCAAG TGTGGGCCGA
17300
CAGGTTCTTT TTCCTTGATG TTCAG
G
T
T
C
A
G
C
A
G
A
C
T
G
T
A
C
A
G
G
A
T
C
T
T
T
17350 | Exon 11
V Q Q T V Q D L 402
T
T
G
G
C
A
G
A
G
C
C
C
C
A
A
G
T
A
A
A
G
C
T
G
T
C
A
A
T
C
C
T
G
A
T
G
A
G
G
C
T
G
T
G
G
C
C
A
T
T
17400
F G R A P S K A V N P D E A V A I 419
G
G
A
G
C
T
G
C
C
A
T
T
C
A
G
G
G
A
G
G
T
G
T
G
T
T
G
G
C
C
G
G
C
G
A
T
G
T
C
A
C
G
G
A
T
G
T
G
C
T
17450
G A A I Q G G V L A G D V T D V L 436
G
C
T
C
C
T
T
G
A
T
G
T
C
A
C
T
C
C
C
C
T
G
T
C
T
C
T
G
G
G
T
A
T
T
G
A
A
A
C
T
C
T
A
G
G
A
G
G
T
G
17500
L L D V T P L S L G I E T L G G 452
T
C
T
T
T
A
C
C
A
A
A
C
T
T
A
T
T
A
A
T
A
G
G
A
A
T
A
C
C
A
C
T
A
T
T
C
C
A
A
C
C
A
A
G
A
A
G
A
G
C
17550
V F T K L I N R N T T I P T K K S 469
C
A
G
GTAAGAG CCATCACTTC CTACCTTGTC ACATGGGTTT TAGGTTCTAT
17600
Q 470
GACGGATGTA ATTGCAGCCA CTTTCATGAG TTTTTTCTAG AAAACTTCAT
17650
TTTTATCTGT TTTACAGTTT AGAATATTAA ACAGTTAACT GTGGGTGGTG
17700
AGAATCCTGT GTTTTGTTTT TTGTTTTTTT GTTACCAGAA AAGTTCTTAC
17750
ATGTTAGCTG GTAGTGATGA TTATAAGAAG GACATCAGTA GTCTCCTCCA
17800
CAGGA
T
TAAC ATAATTTGCT AAAAGGGATC TCAGTCATTT GAGACTGAAT
17850 |
var(17806):[G:0.05]
TTCCTGTAGT CTTCTGTTCT CAAAGACAGT AAAAAGG
A
TA GTCTGGACCA
17900 |
var(17888):[G:0.37]
GACTTAGGGG AGTGTTCTTA TCTTATGGAT GAATGAAGGG GGTGGTATGA
17950
GGGTGCCGAG ATACCAAGCA G
G
GCTACTTG GACATGGCTT GTTCTTGAAG
18000 |
var(17972):[A:0.01]
TAGGAATTAT TTCT
G
G
C
T
G
G
G
C
A
C
C
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
18050 |
REPEAT
C
T
T
T
G
G
G
A
G
G
C
T
G
T
G
G
C
G
A
G
A
G
G
A
T
T
A
C
T
T
G
A
G
C
T
G
A
G
G
A
G
T
T
T
G
A
G
A
C
C
18100
A
G
C
C
T
G
G
G
T
A
A
C
A
T
G
G
T
G
A
A
G
C
T
C
C
C
T
C
T
C
T
C
C
A
A
A
A
A
G
T
T
A
A
A
T
T
A
G
C
C
18150
A
G
G
C
A
T
G
G
T
G
C
T
G
T
G
T
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
T
G
18200
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
C
A
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
T
G
A
G
G
T
C
A
T
18250
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
T
A
T
G
A
A
G
T
G
A
G
G
T
C
T
T
G
T
C
T
C
A
A
18300 |
var(18267):[T:0.01]
A
A
A
A
A
A
A
A
A
A
A
A
A
A
TTATTT
C
CTGACTTAC CCAATCTTGT GATGTTTTTC
18350 |
var(18321):[T:0.01]
CATAAAACTA TGGTTGTTGG TATATTTGTG CC
G
TGATGTA TTTGTCAACA
18400 |
var(18383):[A:0.01]
CATCACTCTG AAGAAAAGTA TGTGGTGACT TTCTGTGACT GAGCATGATA
18450
CATCTTCTTT CTCTGATCCC GTTTCCCCAG ATGAGCATGT TTCAACATTT
18500
TAGTTCCTTT TGAGGACTTC TGTCCTAATG CTGCGTCTTT GTACAATGCA
18550
TTTGCTTAGC TGAAACAGTT GCTATTGTAT GCCCATTTGC TGTACTAATC
18600
CTACTTCTAT TCCCTATAAA GACATCAGCC TTTGTTCTGA ACATACCGTA
18650
AATTAGGAGT CTTCCAGTCT TGGAATGTAA ACCTTTGGCT TTCATTTTTT
18700
CTATAGAAAT GGAGTAGGTT AATCACATTG ACAACCCAGG AGGGTTTCTT
18750
CTTCCCTAG
G
T
A
T
T
C
T
C
T
A
C
T
G
C
C
G
C
T
G
A
T
G
G
T
C
A
A
A
C
G
C
A
A
G
T
G
G
A
A
A
T
18800 | Exon 12 |
var(18786):[G:0.01]
V F S T A A D G Q T Q V E I 484
T
A
A
A
G
T
G
T
G
T
C
A
G
G
G
T
G
A
A
A
G
A
G
A
G
A
T
G
G
C
T
G
G
A
G
A
C
A
A
C
A
A
A
C
T
C
C
T
T
G
18850
K V C Q G E R E M A G D N K L L 500
G
A
C
A
G
T
T
T
A
C
T
T
T
G
GTAGGT TATTGTGAAT CCTGAATACT ATGCCTCCTT
18900
G Q F T L 505
CACTGTAAAG TGAGATAATA TTCTAAGCCA TAAAAATATT AGTATAAACT
18950
GCTGGCATAC ACATACATAC TGAGTAGTCT TGAGAAGAAG GGATGCAACT
19000
AGATACCCAT GG
C
A
T
C
A
G
T
T
T
T
T
A
C
C
T
G
A
A
A
G
C
C
T
T
G
C
T
T
T
T
T
C
C
T
T
G
T
G
19050 |
NOT SCANNED
C
C
T
T
A
G
G
A
A
T
T
T
C
C
T
C
A
G
A
A
A
T
A
A
A
C
T
C
C
T
G
A
T
T
A
C
T
C
A
T
T
T
A
A
A
A
G
A
C
A
19100
T
T
T
G
A
T
A
T
T
G
T
T
A
C
T
G
G
T
T
T
C
T
G
A
T
C
A
G
C
A
T
T
G
C
T
T
A
T
T
G
G
T
T
A
T
T
G
G
T
G
19150
A
G
G
T
G
A
A
T
A
A
T
A
G
G
A
G
A
T
T
T
G
C
T
A
T
C
T
G
T
C
A
T
T
T
A
G
T
G
T
G
T
C
C
A
C
A
G
G
T
A
19200
C
A
T
A
C
A
G
C
C
A
T
T
A
T
G
G
T
T
A
C
T
T
G
C
T
A
T
A
G
C
T
A
A
A
C
T
T
C
A
C
T
G
G
T
A
T
A
A
A
A
19250
C
C
A
G
T
T
G
A
T
T
T
C
A
G
G
C
A
G
C
G
A
A
C
T
A
C
T
A
CT GTTGCTTATA AACTTTGTGT
19300
TTTGTACATT AAATCACTTG TTTCTCCCAG GAACCAAGTG ACTTGTTTAC
19350
TAGAAAACCA TATAGATTTG GAAATAATAG CACTGGACCC CTCTGTAAGA
19400
GGACCTTACT CTGGATATTA TTTATTTTAG
A
T
T
G
G
A
A
T
T
C
C
A
C
C
A
G
C
C
C
C
19450 | Exon 13
I G I P P A P 512
T
C
G
T
G
G
A
G
T
T
C
C
T
C
A
G
A
T
T
G
A
A
G
T
T
A
C
A
T
T
T
G
A
C
A
T
T
G
A
T
G
C
C
A
A
T
G
G
G
A
19500
R G V P Q I E V T F D I D A N G 528
T
A
G
T
A
C
A
T
G
T
T
T
C
T
G
C
T
A
A
A
G
A
T
A
A
A
G
G
C
A
C
A
G
G
A
C