SFTPB 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
AGATATCCTC TGTCTCCCTC AGCCTGTGAG CTTTTTCTCC AGTGTGCTCT
50
GCCAGTGGGG GCCCTGCCTG AGAGCCCCTG CAGCTGCAGA GGACAGTTTC
100
TTTCTGCTGA ACCATCGCAG CTATGCCCCA GCCCCTACCC TGGAGGGGTC
150
CCCAGGGGCC ATGGGCAGCA CCTCCTGTAT AGGGCTGTCT GGGAGCCACT
200
CCAGGGCCAC AGAAATCTTG TCTCTGACTC AGGGTATTTT GTTTTCTGTT
250
TTGTGTAAAT GCTCTTCTGA CTAATGCAAA CCATGTGTCC ATAGAACCAG
300
AAGATTTTTC CAGGGGAAAA GGTAAGGAGG TGGTGAGAGT GTCCTGGGTC
350
TGCCCTTCCA GGGCTTGCCC TGGGTTAAGA GCCAGGCAGG AAGCTCTCAA
400
GAGCATTGCT CAA
G
AGTAGA GGGGGCCTGG GAGGCCCAGG GAGGGGATGG
450 |
var(414):[A:0.16]
GAGGGGAACA CCCAGGCTGC CCCCAACCAG ATGCCCTCCA CCCTCCTCAA
500
CCTCCCTCCC ACGGCCTGGA GAGGTGGGAC CAGGTATGGA GGCTTGAGAG
550
CCCCTGGTTG GAGGAAGCCA CAAGTCCAGG AACATGGGAG TCTGGGCAGG
600
GGGCAAAGGA GGCAGGAACA GGCCATCAGC CAGGACAGGT GGTAAGGCAG
650
GCAGGAGTGT TCCTGCTGGG AAAAGGTGGG ATCAAGCACC TGGAGGGCTC
700
TTCAGAGCAA AGACAAACAC TGAGGTCGCT GCCACTCCTA CAGAGCCCCC
750
ACGCCCCGCC CAGCTATAA
G
GGGCCATGC
A
CCAAGCAGGG TACCCAGGCT
800 |
var(770):[A:0.22]
|
var(780):[C:0.39]
GCAGAGGTGC C
A
T
G
G
C
T
G
A
G
T
C
A
C
A
C
C
T
G
C
T
G
C
A
G
T
G
G
C
T
G
C
T
G
C
T
G
C
T
G
850 | Exon 1
M A E S H L L Q W L L L L 13
C
T
G
C
C
C
A
C
G
C
T
C
T
G
T
G
G
C
C
C
A
G
G
C
A
C
T
G
GT GAGTCTCCCC CAGCCTCCCC
900 |
var(859):[A:0.05]
L P T L C G P G T 22
TCTCCTAGGC AGCTCCACCA CTCACTGAGC ACTGCTTTGT GCTAGGCATT
950
AACCCAAGTC
T
G
T
C
C
T
C
A
T
T
T
T
A
A
A
G
A
C
A
A
G
G
C
A
G
C
T
G
G
G
G
T
T
C
A
G
A
G
A
G
1000 |
REPEAT
G
G
T
T
C
A
G
A
G
C
T
T
A
T
C
C
A
A
G
G
T
C
A
C
A
C
A
G
C
T
G
G
C
G
G
G
T
C
C
A
G
G
A
G
C
A
G
G
T
G
1050 |
var(1033):[T:0.01]
G
A
A
C
C
C
A
G
A
G
C
T
G
T
C
T
G
A
C
G
T
C
C
A
CATGTT TAATGGCCTC ACACTCCCAG
1100
CAAAACTGGG TCTAGAGGGT GGGTGAAATC ATGATGCCAG GTGTGTAGCC
1150
TGGATCCTGA TTAAGGTTGC TCTGGCCCCA AACCACAG
C
T
G
C
C
T
G
G
A
C
C
A
1200 | Exon 2
A A W T 26
C
C
T
C
A
T
C
C
T
T
G
G
C
C
T
G
T
G
C
C
C
A
G
G
G
C
C
C
T
G
A
G
T
T
C
T
G
G
T
G
C
C
A
A
A
G
C
C
T
G
1250
T S S L A C A Q G P E F W C Q S L 43
G
A
G
C
A
A
G
C
A
T
T
G
C
A
G
T
G
C
A
G
A
G
C
C
C
T
A
G
G
G
C
A
T
T
G
C
C
T
A
C
A
G
G
A
A
G
T
C
T
G
1300
E Q A L Q C R A L G H C L Q E V W 60
G
G
G
A
C
A
T
G
T
G
G
G
A
G
C
C
GTGA GTACCACCAA GGATGCATGG CAACTGGGGG
1350
G H V G A 65
TCTGAAATGA AGGGTGCTGG GTGGGCTCTG GATGGGCAGG AGGAGA
G
TGG
1400 |
var(1397):[A:0.08]
AGCCCCCATA GGGGATGGAT G
A
GATGAAAT GGGATGAGAT GAAATGAGAT
1450 |
var(1422):[G:0.01]
AGGATAAAAT GGAATGGGAT GGATGCGATG GGATACGATG ACATAGAATA
1500
GATGGAGTCG GATGAATGGG ATGGGATGGG ATGGATGGGA GGGGAAGG
G
A
1550 |
var(1549):[:0.12]
TAGGATAGGA TGACATAGAA TAAAGATGGA TGGGATGGGA TGGGATGGGA
1600
TGGGATGACA CAGAATAAAG ATGGATGGAT TGGGATGGAT GAATAGAAGA
1650
GATGGATGGG ATAAATTGAT ATGGATGAGA TGGGACAAGT TGGGCTGGTG
1700
GGCAGCTGCA TGTGCCTTGG AGTGCTCTGT TGGCCTCTTC CTAAGAGAAC
1750
CTCCCCATTG GAGCTGGGAG CCTCCCCCAC TCATGTGTCC TCCACCTTGG
1800
GGCCCCTCC
C
TCCCCAG
G
A
T
G
A
C
C
T
A
T
G
C
C
A
A
G
A
G
T
G
T
G
A
G
G
A
C
A
T
C
G
T
C
1850 |
var(1810):[A:0.28]
| Exon 3
D D L C Q E C E D I V 76
C
A
C
A
T
C
C
T
T
A
A
C
A
A
G
A
T
G
G
C
C
A
A
G
G
A
G
G
C
C
A
T
T
T
T
C
C
A
G
G TAATGATGCC
1900
H I L N K M A K E A I F Q 89
CAGATCCTGG ATGAAGGTTG GGGCCCAAGA GATGAGGGAC AGAGCAGGGA
1950
AGAGCTGAGC CCCCTAAAGG GGCCATTTCC AGGCTGAGGA GGAGGCCTGG
2000
GTGCCTGGGA AGTCCCAGCT CCTCCTGGCT GGGAGCAGGT CATGGCCCTG
2050
AGCTCAATAG CACAGCCAGA GATGGTCTTC CCTGAGGGGA AGGGCCCCTA
2100
CATGTGCCCA ACTACTTAAC TCCTTGGCAC TCGTGAACTC CAGCACCCTG
2150
GGGGATTAGG GGTCAGTCTG CCCTGGTGGG GCCTTGTGTC CAGGGACTTG
2200
GGCGGGGTAG ACCTCAGAGA GGCCCAGCTG AC
G
GCCCCCT CTGGCCTCCC
2250 |
var(2233):[C:0.01]
AG
G
A
C
A
C
G
A
T
G
A
G
G
A
A
G
T
T
C
C
T
G
G
A
G
C
A
G
G
A
G
T
G
C
A
A
C
G
T
C
C
T
C
C
C
C
T
T
G
2300 | Exon 4
D T M R K F L E Q E C N V L P L 105
A
A
G
C
T
G
C
T
C
A
T
G
C
C
C
C
A
G
T
G
C
A
A
C
C
A
A
G
T
G
C
T
T
G
A
C
G
A
C
T
A
C
T
T
C
C
C
C
C
T
2350
K L L M P Q C N Q V L D D Y F P L 122
G
G
T
C
A
T
C
G
A
C
T
A
C
T
T
C
C
A
G
A
A
C
C
A
G
A
T
T
GT GAGGGCTGCA AGCTCACCTC
2400 |
var(2377):[C:0.42]
V I D Y F Q N Q I 131
CTGCCTGCCT CCCCACGCAG GCCCCTGTGC CCACCCATGG GGAGCCACAC
2450
ACACAGCACC CCAGCCAGCC
A
GACACACAC ACACACACAC ACACACACA
C
2500 |
var(2471):[G:0.02]
|
NOT SCANNED
A
G
C
A
C
C
C
A
A
G
C
C
G
G
C
C
A
G
A
C
A
C
A
A
A
C
A
C
A
C
A
G
C
A
C
C
C
C
A
G
C
C
A
G
C
C
G
G
A
C
2550
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
A
C
A
C
C
C
C
A
G
C
T
G
G
C
C
G
G
A
C
A
C
A
C
A
C
A
C
A
C
2600
A
C
A
G
T
A
C
C
C
C
A
G
C
T
G
G
C
C
G
G
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
G
C
A
C
C
C
T
A
T
C
C
A
G
A
C
2650
A
C
A
T
A
C
A
C
A
C
A
C
A
C
A
G
T
A
C
C
C
C
A
G
C
C
A
G
C
T
G
G
A
A
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
G
2700
C
A
C
T
C
C
A
T
C
C
A
G
A
C
A
C
A
T
A
C
C
C
A
C
A
C
A
G
T
A
C
C
C
C
A
G
C
C
A
G
C
C
A
G
A
C
A
C
A
C
2750
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
G
C
A
C
A
C
A
C
A
C
A
G
C
A
C
C
C
C
A
G
C
2800
TGGCCACACA CACACACACA CACACCCTGT CCACAAAGGG CCTAGGAAAC
2850
TACGTGCCCT TCAGCCATGC ACCCGACCAT GGGCCCCCAG GTTCAGGTGC
2900
ACACGGTGGG CCTGTACGCT CACACACCCT TACACCCTCA CTCTCACACA
2950
CATGCTTACA CACTTATTCA TTCTCACATA TATGCTCATG CTCATTCACA
3000
CACAATCCCG GCCACCTGCC CTAAAGTCCC CACACAGCCC TATCTTTGCC
3050
TTTTGTCCCC CCACATAGAG TTCTAAACCA CAGCACCCCC ACTAGGCCTG
3100
CTTCCTCCCA TTCCAGTGGT CCCTGAGCCC TTGGGCCGGC CTGAATAGGG
3150
GTGGGCTTCC CTCCCAGACC CTAACACTCC CACCCTGTGC TGTGCCCCAG
3200
131
G
A
C
T
C
A
A
A
C
G
G
C
A
T
C
T
G
T
A
T
G
C
A
C
C
T
G
G
G
C
C
T
G
T
G
C
A
A
A
T
C
C
C
G
G
C
A
G
C
C
3250 | Exon 5
D S N G I C M H L G L C K S R Q P 148
A
G
A
G
C
C
A
G
A
G
C
A
G
G
A
G
C
C
A
G
G
G
A
T
G
T
C
A
G
A
C
C
C
C
C
T
G
C
C
C
A
A
A
C
C
T
C
T
G
C
3300
E P E Q E P G M S D P L P K P L 164
G
G
G
A
C
C
C
T
C
T
G
C
C
A
G
A
C
C
C
T
C
T
G
C
T
G
G
A
C
A
A
G
C
T
C
G
T
C
C
T
C
C
C
T
G
T
G
C
T
G
3350 |
var(3333):[T:0.02]
R D P L P D P L L D K L V L P V L 181
C
C
C
G
G
G
G
C
C
C
T
C
C
A
G
G
C
G
A
G
G
C
C
T
G
G
G
C
C
T
C
A
C
A
C
A
C
A
G
G TGAGGGAGGC
3400
P G A L Q A R P G P H T Q 194
CCCCACAGCC AGTAAAGTGG AGATCCAGAG GGCTAGAGCC ACCTCCGAAG
3450
CCCATGGGCA CTGGGCCCTG GGAGAGGCAG AGCCGGGAAG GTGATAGGAA
3500
GCTCCAGGCA GGGCCTAAGG GAGGAGGGAG AGAAAGGGAG GAAGAGAGAG
3550
GGGAGGAGAG CCTGGAGGAC TCTTCTCCCA GCACCCAGCC TGGCCTCCAC
3600
CTGATTCTTT CCCCAG
G
A
T
C
T
C
T
C
C
G
A
G
C
A
G
C
A
A
T
T
C
C
C
C
A
T
T
C
C
T
C
T
C
C
3650 | Exon 6
D L S E Q Q F P I P L 205
C
C
T
A
T
T
G
C
T
G
G
C
T
C
T
G
C
A
G
G
G
C
T
C
T
G
A
T
C
A
A
G
C
G
G
A
T
C
C
A
A
G
C
C
A
T
G
A
T
T
3700
P Y C W L C R A L I K R I Q A M I 222
C
C
C
A
A
G
GTGA GGCATCCAGG GCCTCACAGA GCCCAGGAGC ACACGCATAC
3750
P K 224
CTGTAGCTCC CTGCAGCTCC CACCTCTCTC CCAACTCACA CCCCCGTCAG
3800
GACCCAGCTG GCTGCCAGAA GTTAGGAGGG GAGAGAGCCG CTTGTGCATT
3850
GCCCCCACCC AGGGGACCCT GGGGCTCAGG CTCAGGCCTG GTAGGTGCCA
3900
GGCCTACAG
T
T
C
A
T
G
C
A
A
C
A
A
A
C
A
T
T
A
A
G
C
C
C
C
C
A
C
T
G
T
A
T
G
G
A
G
G
T
G
C
C
3950 |
REPEAT
A
C
G
C
C
A
G
G
A
G
C
C
A
A
A
G
T
A
C
A
A
A
A
A
C
G
G
A
C
A
A
G
A
C
G
C
A
G
C
T
T
T
G
T
C
C
T
C
C
A
4000 |
var(3958):[A:0.03]
G
C
A
G
C
T
C
A
C
C
A
T
C
T
G
A
T
G
G
A
G
A
A
AGATCCC CAGAGGTCTC TGTAGAAAGG
4050
TTGCTTTGAT CTTTCAAGAG GGGAATTTCC ACAGATAGAT TCCCCATCCT
4100
TGCCTGAGTC CAACTTGGAG TCTTCCAGAC CTGCAGTGGC TATTGTCCAA
4150
TGGCCCCGCC AGCCCAGGGC TACCTTGCCC AAATTGGGGC CCAAATGAGG
4200
AAAGGCCCTG CCCCCTCAGC CTTTCCCAGA TAGGGTTGCG TGGGCCACCA
4250
GGGGCACAAG GCAGCAGGTG AGGTTCCT
G
C
T
G
A
G
G
C
A
G
G
T
G
G
T
T
C
A
C
T
T
G
4300 |
REPEAT
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
T
T
G
G
G
C
A
A
C
A
T
G
G
C
G
A
A
A
C
C
C
C
G
T
C
T
C
T
4350
A
C
T
A
A
G
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
A
T
G
T
G
A
C
A
G
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
4400
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
A
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
G
T
4450
T
G
C
A
G
T
G
A
G
C
C
G
A
C
A
T
C
A
C
G
C
C
A
C
T
G
T
A
C
T
C
T
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
A
4500
A
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
G
A
A
A
G
A
A
G
G
A
A
A
G
A
TCACT
G
CAGAGATTG
4550 |
var(4541):[A:0.11]
CAGTGAGA
G
G
T
G
A
T
G
G
G
A
C
A
G
G
G
A
C
G
G
A
G
C
T
G
A
G
G
G
C
T
G
G
C
C
T
G
G
G
G
A
T
G
4600 |
REPEAT
C
A
T
T
T
G
G
G
A
G
G
T
G
G
G
C
C
C
A
C
T
G
C
T
A
T
T
G
G
G
C
A
T
G
G
A
T
G
G
G
C
C
T
G
G
A
G
C
G
T
4650
G
A
G
G
A
C
C
A
G
G
G
A
G
G
A
C
T
C
C
A
A
A
G
T
G
A
C
T
T
T
T
A
C
A
C
A
C
T
G
G
C
C
A
G
A
G
C
A
A
C
4700
C
A
G
C
C
C
T
C
T
G
T
A
A
T
G
C
C
A
G
C
A
G
C
T
G
A
G
A
T
G
G
G
G
A
G
A
C
T
A
A
A
G
A
A
G
A
A
A
A
C
4750 |
var(4739):[:0.02]
A
G
G
T
T
T
G
A
G
C
A
A
A
A
A
A
A
C
A
G
A
G
A
G
C
T
C
C
C
T
C
C
T
G
G
C
C
A
T
G
T
T
G
A
G
T
T
C
A
A
4800
G
A
T
G
C
C
T
G
T
G
T
G
A
A
G
T
G
C
A
G
G
A
G
A
G
G
A
G
A
G
T
C
A
G
G
C
A
A
G
C
A
G
C
T
G
A
A
T
C
C
4850
C
A
A
G
C
A
T
T
G
G
G
G
G
A
A
G
G
T
C
A
G
G
T
C
C
A
C
C
A
T
G
T
C
A
G
T
C
T
G
A
G
A
G
T
C
A
C
T
A
G
4900 |
var(4854):[C:0.13]
C
T
G
T
G
G
G
C
C
A
G
A
G
C
C
T
T
T
G
G
G
G
C
C
A
G
A
C
G
T
A
G
G
T
C
T
G
A
A
G
C
T
G
G
C
T
C
C
T
A
4950 |
REPEAT
|
var(4905):[A:0.01]
C
A
C
T
C
A
G
T
G
A
C
C
C
T
G
T
G
T
G
A
G
T
C
C
C
C
T
G
C
A
T
C
C
C
C
T
G
G
A
C
T
C
T
C
T
G
A
T
C
C
5000 |
var(4964):[C:0.01]
C
C
A
G
T
G
T
C
C
T
T
A
T
T
T
G
T
G
A
A
T
A
G
C
C
T
T
G
C
C
C
T
C
C
C
T
T
C
T
A
G
A
A
G
A
G
A
A
T
G
5050
A
G
G
G
A
A
T
G
C
G
T
A
G
G
A
A
G
T
G
C
C
C
A
G
C
T
G
G
G
T
G
C
T
G
G
G
C
A
G
A
G
A
G
T
G
G
A
G
G
C
5100
T
T
G
C
C
A
A
G
T
G
A
A
G
G
T
C
CCAT GCTGGCCTCT CTCCGCCCCC GCCCCAG
G
G
T
5150 |
var(5116):[T:0.01]
| Exon 7
G 225
G
C
G
C
T
A
G
C
T
G
T
G
G
C
A
G
T
G
G
C
C
C
A
G
G
T
G
T
G
C
C
G
C
G
T
G
G
T
A
C
C
T
C
T
G
G
T
G
G
C
5200
A L A V A V A Q V C R V V P L V A 242
G
G
G
C
G
G
C
A
T
C
T
G
C
C
A
G
T
G
C
C
T
G
G
C
T
G
A
G
C
G
C
T
A
C
T
C
C
G
T
C
A
T
C
C
T
G
C
T
C
G
5250
G G I C Q C L A E R Y S V I L L 258
A
C
A
C
G
C
T
G
C
T
G
G
G
C
C
G
C
A
T
G
C
T
G
C
C
C
C
A
G
C
T
G
G
T
C
T
G
C
C
G
C
C
T
C
G
T
C
C
T
C
5300 |
var(5290):[A:0.02]
D T L L G R M L P Q L V C R L V L 275
C
G
G
T
G
C
T
C
C
A
T
G
G
A
T
G
A
C
A
G
C
G
C
T
G
G
C
C
C
A
A
GTGAGCCCA CTGCCC
C
CTC
5350 |
var(5318):[T:0.14]
|
var(5347):[A:0.04]
R C S M D D S A G P 285
CTTAGCCCA
A
TGCC
T
GCTCT CCTCCTCCCC CTACCCTGCC ACTGCATGAC
5400 |
var(5360):[G:0.19]
|
var(5365):[C:0.19]
CCTCTCCCTC TGTGGTCCCA CTGCAATGCA CCAAGGAGGA CAGAAACCAA
5450
ACACCTCTGT AGGGTGGCCT TGCCTGCTTT CCCCCTAATG CTCACATCTC
5500
CAG
G
G
T
C
G
C
C
G
A
C
A
G
G
A
G
A
A
T
G
G
C
T
G
C
C
G
C
G
A
G
A
C
T
C
T
G
A
G
T
G
C
C
A
C
C
T
C
5550 | Exon 8
R S P T G E W L P R D S E C H L 301
T
G
C
A
T
G
T
C
C
G
T
G
A
C
C
A
C
C
C
A
G
G
C
C
G
G
G
A
A
C
A
G
C
A
G
C
G
A
G
C
A
G
G
C
C
A
T
A
C
C
5600
C M S V T T Q A G N S S E Q A I P 318
A
C
A
G
G
C
A
A
T
G
C
T
C
C
A
G
G
C
C
T
G
T
G
T
T
G
G
C
T
C
C
T
G
G
C
T
G
G
A
C
A
G
G
G
A
A
A
A
G
G
5650
Q A M L Q A C V G S W L D R E K 334
TATGGGCTGG GCACATGGGG ACTCATGGTC AGGGCCCGTT CAAGGCAGAA
5700
GGCTGAGCCC AGGAAAGGCT TTGCAGCCAG AGACACCTAG GATGGGCCAG
5750
AATGGAGCAC AGACAGGCAG ACAGGATGTG GGGCAGACAA TGGTGGGACT
5800
GTAAGTTAGG GCAGAGCCTG CTAA
G
GGTTA GGAGTCGCCT CTGGACAAAG
5850 |
var(5825):[A:0.43]
GGCTGTGGGC TCCAGAGGAC CAGCAGGCCC TCTTCACGGG CTGAGTGAGC
5900
ACCAGGCAAG CCTTCAGAGG CCTGGTTATC TACCAGGAGA TGAGTAATGC
5950
TAGGGCCAGT TCAAGCCAG
G
AAAGGGACTA GCCTTCTCTC CAGGGTCCTG
6000 |
var(5970):[T:0.13]
ATCCCTTTAC TGCCCCCACA CTCCTCAAGG TGTGACTCAC TCAGGACAAA
6050
C
C
C
A
T
T
G
G
C
A
A
A
A
G
G
A
G
A
G
G
G
C
T
G
G
A
C
T
T
G
A
A
G
G
T
C
C
T
A
G
G
G
C
C
C
T
T
G
C
C
6100 |
REPEAT
A
A
T
A
C
T
C
A
G
T
C
A
A
T
G
A
CAGG AAATTCCC
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
6150 |
REPEAT
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
T
G
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
A
T
G
G
C
A
C
6200
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
G
G
G
T
T
C
A
G
G
C
G
A
T
T
C
T
C
C
T
G
C
6250
C
T
C
A
G
C
C
T
C
T
T
G
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
T
A
C
C
A
G
G
C
C
C
G
G
C
6300
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
A
A
G
G
T
T
T
C
A
C
C
A
T
A
T
T
G
G
T
C
A
G
G
C
T
6350
G
G
T
C
T
C
G
A
A
C
C
C
C
T
G
A
C
C
T
G
A
A
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
6400
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
A
A
G
C
C
A
C
T
G
C
A
C
C
C
G
G
ACAGGA AATTCCCTTC
6450
TTAAAGCGAG ATCCTGTCCT GAGGAAAGCC AGCTGATGCT CTTCCCAGGA
6500
GGCAGCTGTC CACACTGTGC TCCCTGCTCA GCAACTCCCA AGCCTCCCG
A
6550 |
var(6550):[C:0.01]
CTGCCCATCA CATCTGGTCT CAAGGACCAG ATGAACGTTA AG
G
TTCCTTC
6600 |
var(6593):[T:0.40]
TAGAACTGAA ATGGAGGTGG AGGGAGGGGA GGGTGGTGGC TGAGATTCCA
6650
CCCCTCTGCC TGAGTCCTCC GTCTCCAGTG TCGCCTGCTT TTCTGATGGA
6700
AGTCCTCCAT TTCAGCTGGC TCCAGTTT
G
T TAAGGGTTTC AACTGCAGCC
6750 |
var(6729):[A:0.01]
AGAGGTGTTC CGTGAGGGCT GATGGAGGAG TCGGGAGGGA GCCCTAGAGT
6800
GATCCAGAGA TGTGGAGAGG CCAGGACCAC ACGACAGGAG AGTCCTGCAA
6850
AGGGACCCTC CACAGCTGTG TGTCTCCTTC CTCAG
T
G
C
A
A
G
C
A
A
T
T
T
G
T
G
6900 | Exon 9
C K Q F V 339
G
A
G
C
A
G
C
A
C
A
C
G
C
C
C
C
A
G
C
T
G
C
T
G
A
C
C
C
T
G
G
T
G
C
C
C
A
G
G
G
G
C
T
G
G
G
A
T
G
C
6950
E Q H T P Q L L T L V P R G W D A 356
C
C
A
C
A
C
C
A
C
C
T
G
C
C
A
G
GTAC ACCCACCCCT CCCAGTTGGT CCTAGGACTT
7000
H T T C Q 361
CCCTTGGCTC CCAGAGCCCC CACCCTTTGG GCCCGTGATC CTCAGAGGCC
7050
TCACTCCCCT GGGTCCAAGG TGGTCCCAGG TGCACGGGCC AGGGA
C
TGGG
7100 |
var(7096):[A:0.01]
AGGCACCCCT CTCTGTTTCA GTGTAAAAAA TCATGAGAGC ATGGAAAAGG
7150
GGGATGGGAA GGGAGGGATG GCCTGAGGAG TGCGGCTGGA TGTCCATTAT
7200
AGGATGGGGC TGTGTTCCCT GGCCAGTGTG TGCTGGTGGG GTGGGGGTAC
7250
AAAGTGGGTG TTCTGGAGTG AACATCTCAC CTCCTCAGGC TCTAAACCCT
7300
AAGGCCTGTG GCTCAGGGAG TGGCCCGAGG GGT
C
TACAGA GTCACACTGG
7350 |
var(7334):[G:0.02]
TAGCACCCAC TAGGCGGGAG GTGGAGTGAG TGCTGTTCTT TCCCGGAAGA
7400
GCTGGGTGTG GGGAGCTGAG GGGGCCCAGG CCTCAGCCCT GGTGCTGTCC
7450
CTGTGACAG
G
C
C
C
T
C
G
G
G
G
T
G
T
G
T
G
G
G
A
C
C
A
T
G
T
C
C
A
G
C
C
C
T
C
T
C
C
A
G
T
G
7500 | Exon 10
A L G V C G T M S S P L Q C 375
T
A
T
C
C
A
C
A
G
C
C
C
C
G
A
C
C
T
T
T
G
A
TGAGAACT CAGCTGTCCA GGTGAGTCCA
7550
I H S P D L 381
GGCCCCCAGT TGCGGGGAGG TAAGGGGGCA GGTCCTGACC ATCAGGGCAT
7600
GGGAGGCCCT TCTGCTCCCC AAGCAGGAAG AGGCGGCCAC TCCTGCCGGC
7650
TGCTCCATCC TCCCTCTCAC CGCACAGCTG GAGGCTCCTG AGGGCTTCTG
7700
GCTGGCCATC AGGAAAACAC CCTTTCCGGA CCC
C
GAGCAC TGCCCCGCCC
7750 |
var(7734):[:0.01]
AGAACCCCAG TCACTGAGTG CCCAACCCCC AGCTTCCCCC CCAACCCCCC
7800
GCCCTGCCCT GTCCCAGGCC TCCC
T
CTCAG AGCTTGCCCC AGGGACTCTC
7850 |
var(7825):[C:0.15]
TGGCCCTCAG GGTTCAATGT ATTCTGACCA AGGCCAAGCT TTCCTGGGGC
7900
TCAGGGAAAA TCACACTTTG CTACCCGAAG CTGTATCCCC TCAGATGCCA
7950
GGAAGGCC
G
T GATCATCTGA CTCCACCCTC CTGAGACACA TTCTCTCCCT
8000 |
var(7959):[A:0.01]
GACTGTCCTG TTCTAAGTCA GCGGAGCACC TTAGGATGGA GGGGTGGAGG
8050
CGAGGCCAGA TGCAGCCTCT GTGAACAG
G
T GCCTGGAGGC TGGGAAATGA
8100 |
var(8079):[A:0.02]
CCCTGAGAGG GCAGGACACA GCAACCGTGG GCTTAAGGTG ACC
T
TGAGAG
8150 |
var(8144):[A:0.14]
CAAGCTTGGC CCACTTTACA ATTCTGTTCA GAGCCAGCCC CTAACATGGT
8200
GGTCATTTAT TCATTTGTTC CCTCATTTTA AAAAATGTAA
G
G
C
C
A
G
G
C
A
T
8250 |
REPEAT
G
G
T
G
G
C
T
C
A
C
G
C
C
G
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
C
A
G
A
8300 |
var(8272):[T:0.14]
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
T
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
G
A
A
A
C
C
C
8350 |
var(8321):[A:0.02]
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
T
T
T
T
T
T
A
A
A
A
A
T
T
A
G
C
T
G
A
G
C
A
T
G
G
T
G
G
C
A
G
G
T
8400
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
C
G
C
T
T
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
8450
C
T
G
G
G
A
G
G
C
G
A
A
G
G
T
T
G
C
G
G
T
G
T
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
T
A
G
C
8500 |
var(8476):[T:0.18]
C
T
A
G
G
C
A
A
C
A
G
A
G
C
A
C
A
A
C
T
C
T
G
T
C
T
C
A
G
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
8550 |
NOT SCANNED
G
G
G
T
T
T
T
T
T
T
T
T
G
C
G
G
G
G
C
G
C
A
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
8600 |
REPEAT
T
G
G
G
A
G
A
C
C
G
A
G
G
C
G
A
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
8650
C
T
T
A
C
C
A
A
C
A
T
G
A
T
G
A
A
A
C
C
C
C
G
T
A
T
C
T
A
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
8700
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
A
T
G
T
G
G
T
G
G
C
A
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
8750 |
var(8730):[G:0.01]
G
G
A
G
G
C
T
G
A
G
G
A
G
G
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
A
T
T
G
C
A
G
C
G
8800 |
NOT SCANNED
A
G
C
C
A
A
G
A
T
T
G
C
G
C
C
T
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
8850
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
T
A
G
T
G
G
G
T
G
C
C
T
G
T
G
G
C
C
A
G
G
C
C
A
C
A
8900
T
C
C
T
A
G
G
G
T
A
G
G
G
G
C
T
A
T
G
G
C
T
G
A
G
C
C
C
T
G
C
C
C
T
C
C
T
G
G
A
G
C
T
C
A
C
A
G
C
C
8950
A
A
G
T
C
C
A
C
T
T
C
T
T
C
C
A
T
C
T
G
A
G
G
C
G
G
G
G
A
A
G
C
C
A
G
C
C
C
T
G
T
T
C
C
T
G
A
A
A
C
9000
C
C
T
G
C
A
T
C
A
C
A
A
G
C
C
C
C
T
G
T
G
G
G
A
G
G
C
A
G
T
G
G
G
G
A
G
G
G
G
A
G
G
T
C
C
T
C
C
C
C
9050
CACTCAGACC TGACCCACAG GGACCAGTTT AATGTGTCCT TGCCCCAGTG
9100
ATGACAGCTG GGGATCTGGG GGTGGGGAGT CACCCAGGAC CCGGGCAGTC
9150
GCCTTTCCCC AGCTCCTAGG GCTCCCGGCC TTCCCT
G
C
T
G
A
A
A
C
A
G
C
A
A
G
9200 |
REPEAT
A
C
C
A
G
T
G
G
G
T
T
G
G
C
G
T
G
G
G
A
G
G
C
C
T
G
G
G
C
T
T
C
A
A
A
C
C
A
C
C
T
C
T
G
C
T
A
T
C
A
9250
C
C
T
G
G
C
T
G
T
G
G
G
T
C
C
C
C
A
G
G
C
A
G
G
A
C
A
T
A
C
A
C
A
C
A
G
T
C
C
C
T
C
T
C
T
G
G
C
C
C
9300
T
C
A
T
C
C
T
C
C
T
C
A
G
C
T
G
C
A
A
A
GGAAAAGCCA AGTGAGACGG GCTCTGGGAC
9350
CATGGTGACC AGGCTCTTCC CCTGCTCCCT GGCCCTCGCC AGCTGCCAGG
9400
CTGAAAAGAA GCCTCAGCTC CCACACCGCC CTCCTCACCG CCCTTCCTCG
9450
G
G
AGTCACTT CCACTGGTGG ACCACGGGCC CCCAGCCCTG TGTCGGCCTT
9500 |
var(9452):[C:0.42]
GTCTGTCTCA GCTCAACCAC AGTCTGAC
A
C CAGAGCCCAC TTCCATCCTC
9550 |
var(9529):[G:0.13]
TCTGGTGTGA GGCACAGCGA GGGCAGCATC TGGAGGAGCT CTGCAGCCTC
9600
CACACCTACC ACGACCTCCC AGGGCTGGGC TCAGGAAAAA CCAG
C
CACTG
9650 |
var(9645):[T:0.02]
CTTTACAGGA CAGGGGGTTG AAGCTGAGCC CCGCCTCACA CCCACCCCCA
9700
TGCACTCAAA GATTGGATTT TACAGCTACT TGCAATTCAA AATTCAGAAG
9750
AATAAAAAAT GGGAACATAC AGAACT
C
TAA AAGATAGACA TCAGAAATTG
9800 |
var(9777):[T:0.01]
TTAAGTTAAG CTTTTTCAAA AAATCAGCAA TTCCCCAGCG TAGTCAAGGG
9850
TGGACACTGC ACGCTCTGGC ATGATGGGAT GGCGACCGGG CAAGCTTTCT
9900
TCCTCGAGAT GCTCTGCTGC TTGAGAGCTA TTGCTTTGTT AAG
C
A
T
ATAT
9950 |
var(9944):[:0.99]
AAAAAG
G
GGT TTCTTTTTGT CTTTCTGTAA GGTGGACTTC CAGCTTTTGA
10000 |
var(9957):[C:0.01]
TTGAAAGTCC TAGGGTGATT CTATTTCTGC TGTGATTTAT CTGCTGAAAG
10050
CT
C
AGCTGGG GTTGTGCAAG CTAGGGACCC ATTCCTGTGT AATACAATGT
10100 |
var(10053):[G:0.15]
CTGCACCA
A
T GCTAATAAAG TCCTATTCTC TTTTATGAGA AAGAAAAAGA
10150 |
var(10109):[G:0.19]
CAC
C
GTCCTT TAAAGTGCTG CAGTAT
G
G
C
C
A
G
A
C
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
10200 |
var(10154):[T:0.13]
|
REPEAT
G
C
A
A
T
C
C
C
A
G
C
A
C
C
T
T
A
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
A
G
G
A
T
C
C
T
T
G
A
G
G
T
C
A
G
G
10250
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
C
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
T
T
C
T
A
C
T
A
A
A
A
A
10300
T
A
C
A
A
A
A
A
A
T
T
A
G
C
C
A
A
G
T
G
T
G
G
T
G
G
C
A
T
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
A
C
T
A
C
T
10350
C
A
G
A
A
G
G
C
C
G
A
G
G
C
A
G
G
A
G
A
A
T
T
A
C
T
T
G
A
A
C
G
C
A
G
G
A
G
A
A
T
C
A
C
T
G
C
A
G
C
10400
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
G
A
G
A
T
T
G
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
10450
C
T
G
G
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
A
T
C
T
C
A
G
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
A
10500
AGCGCTGCAG TAGCTGTGGC CTCACCCTGA AGTCAGCGGG CCCAGGCCTA
10550
CCTCACTCTC TCCCTTGGCA GAGAAGCAGA CGTCCATAGC TCCTCTCCCT
10600
CACAAGCGCT CCCAGCCTGC CCTCCAGCTG CTGCTCTCCC CTCCCAGTCT
10650
CTACTCACTG GGATGAGGTT AGGTCATGAG GACACCAAAA ACCTAAAAAT
10700
AAACAAAAAG CCAAACAAGC CTTAGCTTTT CTTAAAGACT GAAATGCCTG
10750
GAAGTGTCCC TTTATTTATA AAATAACTTT TGTCATATTT CTTATACATG
10800
TTTCTTGTAA GAAATTCAGA AACTACAGAC AAAGAGAGTG GAAATTACCC
10850
AC
T
G
T
C
A
G
G
C
C
T
C
T
G
A
G
C
C
C
A
A
G
C
T
A
A
G
C
C
A
T
C
A
T
A
T
C
C
C
C
T
G
T
G
C
C
C
T
G
10900 |
REPEAT
C
A
C
G
T
A
T
A
C
A
C
C
C
A
G
A
T
G
G
C
C
T
G
A
A
G
C
A
A
C
T
G
A
A
G
A
T
C
C
A
C
A
A
A
A
G
A
A
G
T
10950
G
A
A
A
A
T
A
G
C
C
A
G
T
T
C
C
T
G
C
C
T
T
A
A
C
T
G
A
T
G
A
C
A
T
T
C
C
A
C
C
A
T
T
G
T
G
A
T
T
T
11000
G
T
T
C
C
T
G
C
C
C
C
A
C
C
C
T
A
A
C
T
GATCAATTGA CCTTGTGACA ATACACCTTC
11050
CCCACCCTTG AGAAGGTGCT TTGTAATATT CTCCCCACCC ACCCCACGCC
11100
CGCACCCCCG CACCCTTAAG AAGGTATTTT GTAATATTCT CTCC
G
CCATT
11150 |
var(11145):[A:0.01]
GAGAATGTGC TTTGTAAGAT CCACCCCCTG CCCACAAAAA ATTGCTCCTA
11200
ACTCCACCG
C
C
T
A
T
C
C
C
A
A
A
C
C
T
A
C
A
A
G
A
A
C
T
A
A
T
G
A
T
A
A
T
C
C
C
A
C
C
A
C
C
11250 |
REPEAT
C
T
T
T
G
C
T
G
A
C
T
C
T
T
T
T
T
G
G
A
C
T
C
A
G
C
C
C
A
C
C
T
G
C
A
C
C
C
A
G
G
T
G
A
T
T
A
A
A
A
11300
A
G
C
T
T
T
A
T
T
G
T
T
C
A
C
A
C
A
A
A
G
C
C
T
G
T
T
T
G
G
T
A
G
T
C
T
C
T
T
C
A
C
A
G
G
G
A
A
G
C
11350
A
T
G
T
G
A
C
A
CC CACAATCCCA CCTAGCCCAG GAGAGAGCTA CGGCAGGGTG
11400
TGTGTTTTGA CACTGAGCTT GGGGCTTTTT CCATCTTCTC CCCACAGCCT
11450
CTGGCTCCAC ACCTCCACCG TTCAAGC
G
CC AGAAAGAGCT GTCTATGCAG
11500 |
var(11478):[A:0.01]
CCTGCTCTTG GGCCTGGGGA TGAGACACAC AATTCATTGG CTCCTGGATT
11550
TTAAGTAGAC ATTTGTAAAT CTATAGCTAA CTACTGTCCT TAAAGCCATT
11600
GTTTCCATTA CAAAATCCAA CTCTCTGAGA GAAAAGGGTG TTTTAAATTT
11650
AAAAAAATAA AAACAAAAAA GTTTGATTGA GACAATGAAG AGCCAATGTT
11700
TGAAGAACTG GAGGCATTAA TAGTTTATCC CAAAAAT
A
TG AGTGGGAATG
11750 |
var(11738):[G:0.03]
AGTGCCTGAT AATGAAAAAG GCGGCTTCAT TCAAAAGGAG GTCAAGAATT
11800
GGCAGAC