SFTPC 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
TTTTTTTTTC CGTCTGCAGC GCATGACTAC TGCCTTGTGG AGGCGCTTCG
50
GCGTTAGGGA TCCCTGTGCT TCTGTCTACC TGGGTTTCTT TGCATGGGGG
100
GACACATCCC CTAGGCAGCA TCATGGGCAT GTCGTGAGTG ACAGACGCAT
150
ATCTAAGTTA GCATGCAAGA TTAGAAGCAC AAGGGCGTCC TGGAGGAGTC
200
TGAAGTGCGC TTCTAACCGG ATTCACATGT TTTTCCACGC GCCGCTGAAC
250
AGAATGTACC TTTGTGTCAG CATGAGCTGA AAAGGGAAAC GCAGCCTCTG
300
GAGCTGGAGT GGGACTGTGT GGAATTCTGG AACATTTCTC ACGCT
C
A
A
C
C
350 |
var(346):[G:0.01]
|
REPEAT
A
C
A
G
C
C
T
G
T
T
A
A
A
G
C
T
G
G
G
A
A
G
C
G
C
T
T
T
G
G
A
T
A
T
T
T
T
T
C
A
G
T
C
C
A
G
C
C
C
T
400
T
T
G
T
C
T
A
A
C
A
A
A
T
G
A
G
G
A
A
A
C
T
G
A
G
G
C
C
C
C CTAAGCTTG
C
T
A
T
C
G
C
A
A
G
T
450 |
REPEAT
G
C
T
C
T
G
T
A
C
T
T
T
C
C
C
T
A
C
T
T
A
A
T
C
C
T
C
T
C
A
A
T
C
G
T
T
T
G
A
G
G
C
A
G
G
T
G
A
T
A
500
G
T
A
A
T
T
C
C
C
T
T
T
T
A
C
A
G
A
C
A
A
G
A
A
A
A
G
T
G
A
G
G
C
CTGTCGC ACCAGAAGAA
550
AAAGGTATCA GCAGGGATTT C
C
GCCCACTC TGCCCAGCTT CAAGGTTCAC
600 |
var(572):[T:0.01]
GGTCGTCCTT CCATGCA
C
G
G
C
T
C
T
T
C
C
A
A
G
T
G
T
A
G
C
C
C
T
G
G
G
A
G
C
C
C
G
G
G
650 |
REPEAT
G
G
T
C
C
T
T
G
A
G
A
A
C
C
T
T
T
C
A
G
G
A
A
G
T
C
T
C
T
G
A
G
G
T
A
A
A
A
A
C
A
A
T
T
T
T
C
C
T
A
700 |
var(685):[:0.01]
A
T
A
T
T
G
T
T
A
A
G
A
C
A
T
G
A
T
T
T
G
C
C
C
T
T
T
T
C
A
C
T
T
C
T
A
T
G
A
A
G
C
T
C
C
A
A
A
T
T
750 |
REPEAT
T
A
A
A
A
G
A
T
T
T
C
C
A
A
A
A
C
T
G
T
A
A
A
G
A
A
A
T
G
A
C
A
C
T
T
T
C
T
C
T
C
T
A
A
T
T
T
T
A
T
800
T
T
T
G
C
T
T
T
G
T
A
A
A
A
T
A
A
T
T
T
T
G
C
T
T
T
G
T
A
A
A
A
T
C
G
T
T
T
T
T
C
C
A
T
T
A
A
A
A
A
850
T
G
T
G
A
T
T
T
A
T
G
T
C
A
T
A
A
C
C
T
A
T
A
T
T
G
G
G
T
T
T
A
T
T
A
C
T
G
A
T
A
T
T
T
T
A
A
A
T
T
900
C
A
C
A
T
G
T
A
A
A
T
A
A
A
A
A
T
G
T
A
A
T
T
T
C
T
C
A
G
T
A
A
A
T
A
T
C
A
A
C
A
G
A
C
A
T
A
T
C
C
950
C
A
C
A
T
A
A
A
C
A
A
A
A
G
C
T
C
T
T
G
G
G
G
G
T
C
C
T
C
A
A
T
A
C
T
T
T
T
T
G
A
G
A
G
T
G
T
T
A
A
1000
G
G
G
G
T
C
C
T
G
A
A
A
A
C
A
A
A
A
A
G
C
T
T
G
A
A
G
A
C
T
G
C
T
G
CTCTCT ACCACGTTAG
1050
CTCCCCTGTG GCGGAGGATG ACTGTCCTAA GAGCTCATAG GCACGGGGCA
1100
AGGGGAGCCT GGCTGTCAGC TGCCTGGGCT TCTAGTCTTG TGCTTTTTGC
1150
ACACCAGTCC AGGGAACGAA GACCACTGGC TTTAAGATGC TTCCCCAGCT
1200
GTCCCCAGAC TCTGCCAGCA GGGGATTCTC TGGTCTGAGC TTAAGTTGTG
1250
TTCTCCCAGC CAGGGATGCC CCTGCCCTTT GATGTCTCCT TGCTGCCACA
1300
CATTTAGCCG CCCTCCCCAT GCCAGCTTGG GGGGAGGGAA GCAGTG
A
GGG
1350 |
var(1347):[G:0.34]
TAGGGAGGTG GCTGGGGCAG CTGGGCAACT GTCCCCACCC GTCCCTGGCA
1400
CGGCTCTGCC CAGTACACAA AGAGCAAAGT GAATCTTGTC CCCACCCCTG
1450
CAGCTGAGGG GCTGGAGGAG GAAACGGGGA GGCCCA
C
ACA GAAGGGGTGG
1500 |
var(1487):[T:0.01]
CCACCGTGGG GCTGTCCATC ACTC
A
GGGCT CTCAGAGGGA GTCAACCCAG
1550 |
var(1525):[C:0.15]
AAACAGACAA AGAGGGTGAG TCTGGGCTGT GTTCTTAGCT AGTGAGAGGT
1600
CCCCTAGAGG ATGAAGTAGA TGATG
C
TAAT GAGGATGACT GGATGTCACA
1650 |
var(1626):[T:0.11]
CCCATGATGC T
A
T
T
A
G
G
T
C
C
T
C
A
T
A
A
T
A
G
C
A
T
A
G
T
G
A
G
G
T
G
G
A
C
A
G
C
T
A
G
1700 |
REPEAT
T
A
C
C
T
G
A
C
C
C
A
T
C
T
C
A
C
A
G
A
T
G
A
A
C
A
T
A
C
T
A
A
T
G
C
C
T
A
A
C
A
A
A
G
C
A
G
A
A
C
1750
G
A
C
T
C
A
C
G
C
T
G
G
G
T
C
C
C
A
G
A
G
C
T
G
G
C
C
A
G
T
G
G
A
A
G
C
A
C
T
G
A
G
A
CCTCCAC
1800
ATACTGAAGG CATGGACTAT TGACCGCTGT TGGTATTGGT CTCATCATTG
1850
ACTATCATTA AGTGTTGGCT GTTTGCATGC TTCCTGCCCA GTGGCAGGTT
1900
CAAAGAAGCC CGCAGGAAGC GTGCTCCTTT CTTTCCCAGG GCCCGCAATT
1950
GGGCTGGAAG ATAGAGCAAC AAAAAGCGCC CATGTAACTC ATGGGAACAT
2000
TCATGTGTGC TGAATGGCAG GTGAAGGTGC CACAGAGAGG CTGAGGATTT
2050
CAGAGGGC
A
C CATGAACTGG AGTGAGGTCG CAGAGCAGGT GCCATTGGCT
2100 |
var(2059):[G:0.02]
CTTGGCCTGT TTGGGTGGGT GGCATTCAGA GAGGTGGAAG GTCAGATGCA
2150
CTGTT
C
A
C
G
C
C
T
G
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
G
G
A
A
G
G
C
C
A
A
G
G
T
A
G
G
A
G
G
A
T
C
2200 |
REPEAT
A
C
A
C
G
A
G
G
C
C
A
G
G
A
G
A
T
C
A
A
C
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
G
A
A
G
C
T
G
T
G
A
T
T
G
C
2250 |
var(2222):[A:0.01]
A
C
C
A
C
T
G
C
A
C
T
G
C
A
G
C
T
T
G
G
G
T
A
A
C
A
G
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
T
A
A
A
T
A
A
2300 |
var(2262):[C:0.43]
T
T
A
A
A
T
A
A
A
T
A
A
A
A
T
A
A
A
A
A
T
A
A
A
A
CCGGA GAAGTGGAGA GGGATTGGAG
2350
GTGGGCTTTC ACAGAGGGAG AAACGGCTTA AGTACAGGCC AAAAAGTGAG
2400
AAGGCTGCAG ACAGGGCTGG TAGGG
G
GAGG GGGAA
A
T
TTG GCACACCCAG
2450 |
var(2426):[T:0.02]
|
var(2436):[G:0.41]
|
var(2437):[G:0.16]
CTAAAGGTCC TTCTGTGTCT CCTTCTCCAA GGAACCCAAG ACCTTCACTT
2500
GGTTGGTGTG AGCACTCCAG GAGGCAGGCA CCCTCCCTCA GCCCTCAAGC
2550
AAGCAAAAAT GGGTTTAAAA AAAGAAGGAG AAGAAGCAGC AGCAGCAGCC
2600
GCCACAGAGC TTGTGACAGC TACAGCCTAA GGGCAACAGG CAGGGGAGAC
2650
CAAGGACCAG AAAGAGCAGA GGCTTTTTCA AAGAAAGAGA TCCCTCT
C
CC
2700 |
var(2698):[T:0.01]
AGCACCCAGC GATGGCGGCA AACCCCACCC ACAGTGCCTG CTAAGAACAA
2750
GTCCCACGTG AGAACAACAT GGCCCCCCGA GATGCCCACA GGGACCCC
G
A
2800 |
var(2799):[A:0.01]
GATGCCTGCA GTGCTTGGCT CTCCCGCTGG CCAGCTGCCC ACCTGGCTCA
2850
GGCCCAGTAC TCGTGAGTCA GCCGATCAAT CCCAATGTTG CCAGGATGAT
2900
GGGGG
C
GGGA GTAAGGGCCC TGGGGGAGGG CAGGGGTGGG CACTGCAGGC
2950 |
var(2906):[T:0.02]
GAGCTGTCTC CCACATCTGG CACCTGCACA CAGCTGAGGC C
G
AGCTGAGA
3000 |
var(2992):[C:0.03]
GGATGCTTCT GTGGGCTCCC CCTCCTCCCG GCACCC
C
TCC CCTCCTTTCA
3050 |
var(3037):[T:0.01]
CTG
T
CCTAGG ACACTCTCTG GCTGCTGGAG TCTTAGGCAA ATATTTAAAG
3100 |
var(3054):[C:0.01]
GGGCAGCAAG GGGGTGAGGA GGGTGGTGGG AGCAAACACT TCCCTCCCTT
3150
TCTTCCTCCC TGC
G
CTTCTC AGGGGCTCTC AGTTCAGATG CC
A
TGCTGTT
3200 |
var(3164):[A:0.02]
|
var(3193):[G:0.05]
ATGCAACCTT GGGGCTGAAG GCCCTCCAGA TGGAGAGGGG GACAGGGGAA
3250
CCTGCCAGCT CATGACCGAA GGGCAGGGCC CAGGTGGGAG GGGGCTGGGG
3300
CAGGGGACAG GAACTGGGGT GGCATGTTAA AGGACAGGAG GCT
G
G
T
T
G
G
G
3350 |
REPEAT
C
A
T
G
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
T
T
T
A
G
G
A
G
G
C
C
G
A
G
A
T
C
A
C
T
3400 |
var(3383):[C:0.01]
T
G
A
G
C
C
C
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
A
T
G
G
T
G
A
A
A
A
C
T
C
A
T
C
T
3450 |
var(3416):[G:0.24]
C
T
A
T
A
A
A
A
C
A
A
G
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
A
C
A
A
T
G
G
C
A
T
G
C
A
C
T
G
G
T
A
G
T
C
3500
C
C
A
G
C
T
A
C
T
T
G
G
G
A
T
G
C
T
G
A
G
G
T
G
T
G
A
G
G
A
T
C
A
C
C
G
G
A
G
T
C
C
A
G
G
A
G
G
T
C
3550
A
A
C
G
C
T
G
C
A
G
T
G
A
G
C
A
G
T
G
A
T
C
T
C
G
C
T
A
C
T
G
C
A
T
G
C
C
A
G
C
C
T
G
G
G
T
G
A
T
A
3600
A
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
A
C
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
GGAT
3650 |
var(3613):[C:0.01]
|
var(3644):[G:0.03]
AGGAGGTTAA GGGAGCGAGC CCAGGCCTGG ACTCTGCCAC
A
G
T
C
A
C
C
T
G
A
3700 |
REPEAT
G
T
T
T
A
G
A
G
G
T
G
A
A
G
G
G
A
C
T
T
T
A
G
A
G
A
C
C
A
C
C
T
G
G
C
C
C
A
A
G GAGTGAAAGG
3750
GAACCTGAGA GAAAGGGTGA GCCAGCCCAA AGTCATTGGC AGATTTGACC
3800
TCGTAAATAC ATAGAGATGG CTTTGGGAAG GCACTAGGAA AGACAGAGAA
3850
AAGAGAAGGA GACAGTCCTC AAAGCTGATC GTATTTGGGT GAGTATTATT
3900
CTCAGGGCAA ATTTAGGATC AGAGGATGCA GAAAGGGGAG TCTAGAGGGG
3950
TAGAGTGTAG ACCACAGGGT GAGTGAGCTG ATTCGAGGAT GGGGAGACTG
4000
GGAGCCCACC AGTGACCAGA GCCAGCCCTG TTCAGGGCTG TCCGGGCAGA
4050
AGAAAGCAGT GTCAGACCTG GAATCTGCCA TCAGCACAGC CTGCAATTGA
4100
CAGACAAGCC CAGAGCAAAG AAGGAAGCAC TGCACATGAG TAAGAGCTTG
4150
CCACCAGTGG GGACAGAGTT TCCAGAATTA GGAAAATAAT CACTGGGGGC
4200
AAGTTTGAGG TTGGTACCAG ATATGTGGGA GGAGGCAAGG TAAGGGAAAG
4250
AGTACTTGAA GTTGGAACTG GTCCTTGCAG GGAAATGCAC ATTTATGAAA
4300
CCCCGAAAAC TGATGTCAAA GCACCTCCTG CCTTGGGCAG AGTCCTCTCA
4350
GAGTCTACAG GTGCTGCCTC CAGAACCCTC TTCCTGGAGC GCATCCCTAT
4400
GTATCTAGAA ATTCTGCTGG GAAATATGAT GGTCAGACCC TTGGCCACCT
4450
GAAAGGTTCA GGGTGGTAGA AGAAAAAGGA AAGCCACAGG GCAGCAGGGG
4500
CAGGTGCCAG CAAGGAAGGC AGGCACGCCA GGAAGACACC CATGGTGAGA
4550
AGTGCAGATG GCCC
G
AGGGC AAGTTTGCTC AACTCACCCA GGTTTGCTCT
4600 |
var(4565):[A:0.04]
TGCTGGGGCC AAGAGGACTC ATGTGCCAGG GCCAAGGGCC CTTGGGGGCT
4650
CTCACAGGGG GCTTATCTGG GCTTCGGTTC TGGAGGGCCA GGAACAAACA
4700
GGCTTCAAAG CCAAGGGCTT GGCTGGCACA CAGGGGGCTT GGTCCTTCAC
4750
CTCTGTCCCC TCTCCCTACG GACACATATA AGACCCTGGT CACACCTGGG
4800
AGAGGAGG
A
G
A
G
G
A
G
A
G
C
A
T
A
G
C
A
C
C
T
G
C
A
G
C
A
A
G
A
T
G
G
A
T
G
T
G
G
G
C
A
G
C
4850 | Exon 1 |
UTR
M D V G S 5
A
A
A
G
A
G
G
T
C
C
T
G
A
T
G
G
A
G
A
G
C
C
C
G
C
C
G
GTG AGTGTGGTTG CGTGTGTGTA
4900
K E V L M E S P P 14
TGTATGTGTG C
G
CGCGCACA TGTGTGTGAT GGGCCCTGCC TCCTCTATCC
4950 |
var(4912):[A:0.04]
TCCCTGGCCT GTTTCCTTAT CCAGATCCAT TCACTCAACT AACCTAGGAC
5000
TGTGATAAGT CAGGATGGGG ACACCAAGAC CACTAAGCCA GGGACCCTTG
5050
GGGAGCTGTT TGTGGGCCAA GAGCCACTAT AGGGGTCCGT AGAAAGGGCT
5100
GTCCGTAGAC AGCCCTGAGT CAGAAGCCAT GAGAAA
C
T
T
C
A
G
A
A
G
T
C
A
G
G
5150 |
REPEAT
G
G
A
C
A
C
T
T
C
T
C
A
G
A
G
A
A
A
A
A
C
C
A
C
A
T
A
C
G
A
G
C
T
G
G
A
G
C
C
A
G
A
A
T
A
A
G
G
A
G
5200
G
A
G
C
T
C
G
C
C
C
G
G
T
G
G
A
G
A
A
G
G
A
G
G
A
A
G
G
C
A
T
T
C
C
A
G
G
A
A
G
G
A
G
G
G
A
G
A
C
T
5250 |
var(5211):[A:0.02]
|
var(5224):[C:0.04]
|
var(5236):[A:0.01]
C
T
G
T
A
T
C
A
C
C
G
C
A
T
G
G
A
G
G
T
G
A
T
C
A
C
T
T
G
G
G
G
A
G
A
G
A
G
A
G
G
G
G
C
T
G
A
C
C
A
5300
T
G
G
C
T
G
G
G
G
G
A
A
G
C
A
G
C
A
G
G
G
A
G
AGACAGG TGAAGCAGGC TCTCTTGGGT
5350 |
var(5306):[A:0.29]
CCCTCAAAAC TAGACCCTGC TTCTAAGCTT CTATGT
G
TCT ATGGGTTTGT
5400 |
var(5387):[A:0.27]
TAGAATCCAG
G
C
C
A
C
C
T
C
C
T
C
C
A
A
G
A
A
G
C
C
T
T
C
T
C
T
G
A
T
C
T
C
C
T
C
A
G
C
C
C
5450 |
REPEAT
TTCCCTGTCC ATCCATCGCA TCGGCTGTCC AGCCCTAGGC AGC
C
GTGGGA
5500 |
var(5494):[T:0.01]
GGGTGTTCAG CTTGTATAGG GAGAAGAGGG GACAGCCTCA TGACCTCATG
5550
CCTGTCTCC
T
TGCCTGCCCC ACCGTGTCAG
G
A
C
T
A
C
T
C
C
G
C
A
G
C
T
C
C
C
C
G
5600 |
var(5560):[C:0.42]
| Exon 2
D Y S A A P R 21
G
G
G
C
C
G
A
T
T
T
G
G
C
A
T
T
C
C
C
T
G
C
T
G
C
C
C
A
G
T
G
C
A
C
C
T
G
A
A
A
C
G
C
C
T
T
C
T
T
A
5650
G R F G I P C C P V H L K R L L 37
T
C
G
T
G
G
T
G
G
T
G
G
T
G
G
T
G
G
T
C
C
T
C
A
T
C
G
T
C
G
T
G
G
T
G
A
T
T
G
T
G
G
G
A
G
C
C
C
T
G
5700
I V V V V V V L I V V V I V G A L 54
C
T
C
A
T
G
G
G
T
C
T
C
C
A
C
A
T
G
A
G
C
C
A
G
A
A
A
C
A
C
A
C
G
G
A
G
A
T
G
G TGAGAGGTGT
5750
L M G L H M S Q K H T E M 67
GG
G
ATGCACA GCAGTGGGCA CAGGACATGC CAGACAG
A
GG GGCTAGGTGG
5800 |
var(5753):[A:0.06]
|
var(5788):[C:0.38]
GATGGGCGAT AGGAAACTGT CCAAGGGGAG TGGAGGGGAG GAGGCA
A
GGG
5850 |
var(5847):[G:0.01]
GCA
C
AGCTAG AAGGAAAGAG GCACGAACCA GGCAGCAACC CAGCTCAGGC
5900 |
var(5854):[A:0.03]
TTTTCCACAA GGCCCCTGCC CCGCAGCAGG ACAGCCAGCT CCCTCCAGCA
5950
CCTGGTTCCA CTCAGCCTCC CTGAACTCTT GGGAAAGAGG GAAGCGCATT
6000
TGAGTACAGA GGCCTGAGTA TGGGGATGGG TACCACTGGC TGAGTAGGAA
6050
AGGGGAAGAC CAGGTGGCTC CATGCCCTTT CCCCAG
G
T
T
C
T
G
G
A
G
A
T
G
A
G
6100 | Exon 3
V L E M S 72
C
A
T
T
G
G
G
G
C
G
C
C
G
G
A
A
G
C
C
C
A
G
C
A
A
C
G
C
C
T
G
G
C
C
C
T
G
A
G
T
G
A
G
C
A
C
C
T
G
G
6150
I G A P E A Q Q R L A L S E H L 88
T
T
A
C
C
A
C
T
G
C
C
A
C
C
T
T
C
T
C
C
A
T
C
G
G
C
T
C
C
A
C
T
G
G
C
C
T
C
G
T
G
G
T
G
T
A
T
G
A
C
6200
V T T A T F S I G S T G L V V Y D 105
T
A
C
C
A
G
C
A
G
G TGGGTATGCC CAGACCTCCT GACCCTGGGA CCAATGACAA
6250
Y Q Q 108
GGCTCTGCTA GAGCCACCCA GCTGGGCCAC TTCATCCACA TCCATCTCTC
6300
CCTCTCCTCC AGACCTTTTT TGCCTGAGCC CCAGATTCTA GTATGACTCC
6350
CGTGCCCAAC CTAGAGGGAG GTGGCTAAGG ACCTGGGTCA GGGAGAGAGC
6400
AGGGCAGGGA CCCCCGAATG ATCTCCAGCA TTCTGTGCCT AG
C
T
G
C
T
G
A
T
6450 | Exon 4
L L I 111
C
G
C
C
T
A
C
A
A
G
C
C
A
G
C
C
C
C
T
G
G
C
A
C
C
T
G
C
T
G
C
T
A
C
A
T
C
A
T
G
A
A
G
A
T
A
G
C
T
C
6500
A Y K P A P G T C C Y I M K I A 127
C
A
G
A
G
A
G
C
A
T
C
C
C
C
A
G
T
C
T
T
G
A
G
G
C
T
C
T
C
A
C
T
A
G
A
A
A
A
G
T
C
C
A
C
A
A
C
T
T
C
6550 |
var(6531):[A:0.06]
P E S I P S L E A L T R K V H N F 144
C
A
G
GTGTGTG TGTGTGGGTG AAAAGAGTGG GCTGTCTCCC TCCCAGGGCT
6600
Q 145
GCTGGGAGGA GTGTCCGAAT GGT
G
GCTATT TGTCACCTGT AAAGCACTGT
6650 |
var(6624):[A:0.07]
TCCTCATTGG CTGCCAGCTG ACTGCCCCTC TCCTATTCCC CTGCACGACT
6700
C
CTTTCCTTC CCACCCCACT GCCAAGCTGC TGGGCTCAGC TGAGTCCACT
6750 |
var(6701):[T:0.05]
CACTACCTGG TGGCTTCTGA C
T
C
T
A
G
C
A
C
A
G
C
C
C
C
T
C
T
T
T
A
C
T
G
A
T
G
A
G
A
6800 |
REPEAT
|
var(6783):[T:0.23]
A
A
A
C
T
G
A
G
G
C
T
C
A
G
A
G
A
G
A
T
T
G
C
C
T
G
A
T
A
T
A
C
C
T
G
A
A
G
T
C
C
C
A
C
A
A
T
A
A
G
6850
G
G
C
T
G
C
A
C
A
T
G
G
G
A
T
A
G
A
A
A
C
T
C
A
C
T
T
C
C
T
A
C
A
T
T
C
C
A
G
A
T
G
G
A
A
T
G
C
T
C
6900 |
var(6882):[G:0.29]
| Exon 5
M E C S 149
T
C
T
G
C
A
G
G
C
C
A
A
G
C
C
C
G
C
A
G
T
G
C
C
T
A
C
G
T
C
T
A
A
G
C
T
G
G
G
C
C
A
G
G
C
A
G
A
G
G
6950
L Q A K P A V P T S K L G Q A E 165
G
G
C
G
A
G
A
T
G
C
A
G
G
C
T
C
A
G
C
A
C
C
C
T
C
C
G
G
A
G
G
G
G
A
C
C
C
G
G
C
C
T
T
C
C
T
G
G
G
C
7000
G R D A G S A P S G G D P A F L G 182
A
T
G
G
C
C
G
T
G
A
G
C
A
C
C
C
T
G
T
G
T
G
G
C
G
A
G
G
T
G
C
C
G
C
T
C
T
A
C
T
A
C
A
T
C
T
A
G
G
A
7050 |
var(7011):[A:0.12]
|
UTR
M A V S T L C G E V P L Y Y I 197
C
G
C
C
T
C
C
G
G
T
G
A
G
C
A
G
GTGT GATCCCAGGG CCCCTGATCA GCAGCGGAGG
7100
AGCGCTCGGG CCACCTGCCC GGGCTGTGGA GGAGCGCTCG CGCTGACCAG
7150
GCGCTGGGGC GTCCACTGAA GCGGGGTCAT CCAGGCAACT CGGGGGAGGG
7200
GAAGCTCACA GACCGGTACT TCCCACTCCC CTGA
A
TTCTC TCTGTCCATC
7250 |
var(7235):[:0.77]
CTCAACATTC CTTTGCTTCA CAG
G
G
T
C
A
G
T
G
G
A
A
G
C
C
C
C
A
A
C
G
G
G
A
A
A
G
G
7300 | Exon 6 |
UTR
A
A
A
C
G
C
C
C
C
G
G
G
C
A
A
A
G
G
G
T
C
T
T
T
T
G
C
A
G
C
T
T
T
T
G
C
A
G
A
C
G
G
G
C
A
A
G
A
A
G
7350
C
T
G
C
T
T
C
T
G
C
C
C
A
C
A
C
C
G
C
A
G
G
G
A
C
A
A
G
C
C
C
T
G
G
A
G
A
A
A
T
G
G
G
A
G
C
T
T
G
G
7400 |
var(7378):[A:0.22]
G
G
A
G
A
G
G
A
T
G
G
G
A
G
T
G
G
G
C
A
G
A
G
G
T
G
G
C
G
C
C
C
A
G
G
G
G
C
C
C
G
G
G
A
A
C
T
C
C
T
7450 |
var(7428):[T:0.25]
|
var(7437):[C:0.12]
G
C
C
A
C
A
A
C
A
G
A
A
T
A
A
A
G
C
A
G
C
C
T
G
A
T
T
G
A
A
A
A
G
C
A
A
A
G
G
G
T
C
TGCTTCTG
7500 |
var(7471):[T:0.01]
TCTTCCTGCA GGGCGCAGTC CTGCCCTGGC GGGGGCCGGC
C
AAGAAGGGA
7550 |
var(7541):[T:0.39]
AGGGCCTTGG GAGAGCAAAG TGGGGTTTGC CATTCGCCCT CTGTCCCAGG
7600
GCGCTGGGGC ACTGGGTCCA CCTCGGCGGG GGAGAGGGGC TCGCAGGGAG
7650
CCATCCACGG GCTTTCGGCG CCCTCCAGCG GCGTCTCCGA AAACCGGCGG
7700
GCAAGGCGGC TTTTCCTTCT GTAGGAAACT TTTCTGGCCA AACTCC