CASP5 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
AAGGCGCTGA AGAATTAGGT ATCTAGATGC ATTTATCCAC TTAATGATTA
50
AGTTGGATGT TTACTTATGT ATTCAGCAAG CAGATTAAGC ACTTTTAAGC
100
ATTTTGAGCA GAAAATTGTT AATTAGCACA ATTGGGTATA GCTTGTG
T
GT
150 |
var(148):[C:0.06]
TAAAAAACAC AAATTCAAAG ATATAGTTAA TTCACCAAGG AAGCTAAATA
200
CAGAGAAAAG GAAAGATCCT GCAGTCTAGT AGGAATAATT TACAGTCTAG
250
ACAAGAGAAT GGACTGTCCT GGGTGCACAC A
C
TTCAGGTA G
G
TCATCATG
300 |
var(282):[T:0.33]
|
var(292):[A:0.06]
AGTTTGAGCA AGAGAGAGAA ATCTGAATAC AATGGATGAC CAGGAATTTA
350
GCATTAGGCC CAATGCTGCA GAAAGGAAAA AGACAAGCTA TAAAAAACAA
400
ACTTAAGTGG CAATGAATTG TTAAACACAG CCTGGTAGGA ATTTGATGGG
450
TGAGAGAATG CTACAGGTAC AAAGAAATAA TGAGTATTTG TTGAAGACAT
500
GGTAAGACAG AATGTATTTT CAAGGGTGTT TCACATTACA GAGCTTTGTC
550
TAAAGCAAGG GCAAAACTCT TTAAGCTGTG CCCAGAGTTG AAG
G
AGT
C
TT
600 |
var(594):[T:0.03]
|
var(598):[A:0.01]
TATATTTCTG ATAGAAGACA G
T
G
G
C
A
A
A
A
A
A
A
A
A
A
G
G
C
G
T
A
A
G
A
A
T
T
T
T
G
650 | Exon 1 |
UTR
|
var(622):[C:0.06]
A
A
G
C
T
A
T
G
T
T
C
A
A
A
G
G
T
A
T
C
C
T
T
C
A
G
A
G
T
G
G
A
T
T
G
G
A
T
A
A
C
T
T
C
G
T
G
A
T
A
700 |
var(664):[T:0.02]
|
var(694):[G:0.06]
M F K G I L Q S G L D N F V I 15
A
A
C
C
A
C
A
T
G
C
T
A
A
A
G
A
A
C
A
A
C
G
T
G
G
C
T
G
G
A
C
A
A
A
C
A
T
C
T
A
T
C
C
A
G
A
C
C
C
T
750
N H M L K N N V A G Q T S I Q T L 32
A
G
T
A
C
C
T
A
A
T
A
C
G
G
A
T
C
A
A
A
A
G
T
C
G
A
C
C
A
G
T
G
T
A
A
A
A
A
GT AAGACTGGAT
800
V P N T D Q K S T S V K 44
ATTTTACAAT GGATATTTCC AATTTTTTAG AATCTGTTCA ATTATAA
G
TC
850 |
var(848):[A:0.01]
CCATGCAGTG ACTTCTGTGA TCCCCCTATC CTCCTTCCTT TATGAAACTA
900
TCATTTTCAC CAAACCTATA ATTTTTCCTT CAGGGACTAC CTTGTCTTTT
950
GTGGGGTGGG ATCCAGTTTC CAATCGGCTA AAAGGCTGAG TCCTTGGGTT
1000
CAGATTGT
G
C ATGGA
A
A
T
A
A
T
T
A
A
T
A
G
T
A
G
A
G
G
C
T
T
G
T
A
G
T
A
A
G
A
C
A
T
A
T
1050 |
var(1009):[A:0.06]
|
REPEAT
T
C
A
A
A
C
C
T
A
A
A
T
C
T
A
G
A
T
T
C
T
G
T
T
A
C
T
A
A
T
A
A
T
C
T
G
T
G
T
G
G
C
T
T
C
C
T
G
C
A
1100 |
var(1076):[T:0.06]
T
G
T
A
T
C
T
T
A
A
C
C
T
C
T
C
T
T
G
C
T
C
C
C
T
A
A
T
C
A
T
C
A
G
T
C
T
T
A
C
C
A
T
C
T
A
T
G
A
A
1150 |
var(1141):[T:0.01]
A
T
G
G
G
G
A
C
A
A
T
T
T
C
A
G
T
A
C
T
T
T
C
T
C
A
C
A
A
G
A
C
T
G
T
G
G
A
A
G
G
T
T
A
G
A
AACA
1200 |
var(1156):[A:0.01]
TTGTGTTGGC TGG
C
A
T
C
A
A
C
A
T
G
C
C
A
A
T
A
A
C
T
C
C
C
A
A
G
A
T
A
T
T
A
G
C
T
G
T
C
1250 |
REPEAT
A
T
C
C
A
G
A
A
C
T
C
T
C
T
C
C
T
C
T
G
A
G
C
T
C
C
A
G
A
C
T
C
A
T
T
T
A
G
C
T
C
T
A
G
A
T
G
T
A
T
1300
T
T
T
C
A
A
C
A
A
T
T
C
T
G
C
T
C
C
A
G
T
G
T
T
T
C
A
T
T
G
G
C
T
T
C
A
T
T
A
A
A
C
T
A
A
T
G
A
T
T
1350
A
C
C
T
A
A
A
A
A
T
T
A
A
A
C
A
C
T
T
T
T
T
C
T
T
C
T
A
A
A
C
A
A
A
T
T
T
G
T
T
C
C
A
A
C
T
T
T
A
A
1400 |
NOT SCANNED
C
C
C
C
T
T
T
C
C
A
T
T
T
T
A
G
T
A
A
A
A
G
A
A
A
C
T
A
A
T
A
T
A
T
A
T
C
A
A
A
T
T
T
C
T
C
C
C
A
C
1450
C
A
G
A
A
T
G
C
A
A
C
T
G
G
T
T
G
C
T
T
T
A
C
C
A
A
T
G
A
C
T
G
G
C
A
G
T
A
A
T
T
A
G
A
A
G
A
G
G
G
1500
C
C
A
G
G
C
A
A
A
A
A
A
A
T
T
T
A
T
C
A
C
T
T
T
G
A
T
A
T
C
T
A
T
A
T
T
T
T
C
C
A
A
T
A
A
A
A
A
T
T
1550
C
A
A
A
T
T
A
T
G
C
T
A
A
G
G
T
G
T
A
G
T
G
A
T
T
A
A
C
C
T
G
A
T
G
T
C
A
C
A
T
A
A
A
T
T
C
A
C
C
A
1600
T
G
C
T
A
G
A
G
T
A
G
T
T
A
T
G
A
T
A
T
T
A
TTTTCAAT TTCAAATTTT GATTGAGGAA
1650
AAGATGCTAA AAAATTAGGA CTCTGGGTGC AGTCATCCAT TTGTTCATTA
1700
AGTCATGTAT TTAGCAAGCA TGCTAAGTAC TTTTAAGCAT TTTGGGCACA
1750
AAGATGTTAA TGAGCACAAA GATGTGGGTA TAGGATGTGT GCTAAAAATG
1800
CAAATTCAAA GATATAGTGC TTTCCCCAAG GAAACTAAAT ACAGCAAAGA
1850
GGCAAGATTG TATAGTCTAG TAGTATTTAC AGTCTAGACA AGAGCATGGA
1900
CTGTCCTGGG AGTGTCCATT TCAGGTAAAT TATC
A
TCATC ATGAGCTGTG
1950 |
var(1935):[T:0.06]
AGCAAGAGAA AGAGAAAT
A
T GAAA
G
CAGCA GGTGACCAGG AAATTAGCAT
2000 |
var(1969):[G:0.02]
|
var(1975):[A:0.06]
TATTCCCAAT GCCACAGAAG GAAGAAGAAA AGCTATAAAA ACAAATTTAA
2050
GAGGAAATGA ATTGCTAAGC ACAGTCTGGT ATGAATTTGA TAGGTGAGAG
2100
AATTCTGCAG TTGCAAAAAA AGATGTGTGT TATTCGCTGG AGACATGGTA
2150
AAATAGAATG TATTTTTAGA GGAGTTTCAT ATTACAGAGT TATGTCTTAG
2200
GTGAAGGCAG AACTCTTTAA GCTGTGCCCA TAGTTAAAGG AGTCTTTCTA
2250
TTTCTGACAG
A
A
G
A
C
A
A
C
C
A
C
A
A
A
A
A
A
A
A
A
A
C
A
G
T
T
A
A
G
A
T
G
T
T
G
G
A
A
T
A
2300 | Exon 2
K D N H K K K T V K M L E Y 58
C
C
T
G
G
G
C
A
A
A
G
A
T
G
T
T
C
T
T
C
A
T
G
G
T
G
T
T
T
T
T
A
A
T
T
A
T
T
T
G
G
C
A
A
A
A
C
A
C
G
2350 |
var(2303):[G:0.01]
L G K D V L H G V F N Y L A K H 74
A
T
G
T
T
C
T
G
A
C
A
T
T
G
A
A
G
G
A
A
G
A
G
G
A
A
A
A
G
A
A
A
A
A
A
T
A
T
T
A
T
G
A
T
A
C
C
A
A
A
2400 |
var(2395):[G:0.44]
D V L T L K E E E K K K Y Y D T K 91
A
T
T
G
A
A
G
A
C
A
A
G
G
C
C
C
T
G
A
T
C
T
T
G
G
T
A
G
A
C
T
C
T
T
T
G
C
G
A
A
A
G
A
A
T
C
G
C
G
T
2450
I E D K A L I L V D S L R K N R V 108
G
G
C
T
C
A
T
C
A
A
A
T
G
T
T
T
A
C
C
C
A
A
A
C
A
C
T
T
C
T
C
A
A
T
A
T
G
G
A
C
C
A
A
A
A
G
A
T
C
A
2500
A H Q M F T Q T L L N M D Q K I 124
C
C
A
G
T
G
T
A
A
A
A
C
GTAAGG
T
T GCATCTAACA CGATAAATAT GTTAAATTTT
2550 |
var(2519):[C:0.35]
T S V K 128
CCAGAATATA TTCAACTCCA AGGCCCATGC AGTGTTATCT GTGATCTACC
2600
TACA
G
TTTCA TTTCTAAACT CTCATTTTCA GTAAACATGT CATCATCCTG
2650 |
var(2605):[C:0.35]
TTAGAGACCA CCTTGTCTTT TATGGGACGG GATCAAATTT CCAATTAGCC
2700
AAAAAGCTGT GTCCTTGTGT TTAGACTGTG CACAGAAATA GTTAATAAGG
2750
GAGATTTTTT AGTAGGAGA
T
A
C
C
T
A
A
A
C
C
C
A
A
A
C
T
T
A
G
A
T
T
C
T
G
T
C
A
C
A
T
2800 |
REPEAT
|
var(2780):[T:0.07]
G
T
G
A
A
C
T
A
T
G
C
A
G
C
T
T
C
A
T
G
C
A
A
G
T
T
T
C
T
T
G
A
C
C
T
T
C
C
A
T
T
C
T
C
C
C
T
A
G
T
2850
C
A
T
C
A
G
T
C
T
T
A
C
C
A
C
C
T
G
T
G
A
A
A
T
G
T
G
G
G
C
A
A
T
T
C
C
A
G
C
A
C
T
T
T
C
T
C
A
C
A
2900
A
G
A
C
T
G
T
CTA CAGCCAGAAA CATTGTAATG CCAGGCA
C
C
A
C
A
T
G
C
C
A
A
C
A
2950 |
REPEAT
A
C
T
T
C
C
A
A
G
A
T
A
C
C
A
G
C
T
C
T
C
A
T
T
C
A
G
G
A
C
T
C
T
C
T
C
A
T
C
T
G
A
G
C
T
C
C
A
G
A
3000
C
T
C
A
T
T
T
A
G
C
T
C
T
A
G
C
G
G
C
A
T
A
T
A
A
A
A
C
A
A
T
T
C
T
G
C
T
C
C
A
G
T
G
T
T
T
C
A
C
T
3050 |
var(3021):[C:0.03]
G
G
C
A
T
C
A
C
A
A
A
A
T
G
A
A
T
A
C
A
G
C
T
A
A
A
A
T
T
A
A
A
T
G
C
T
T
T
G
T
T
T
T
C
C
A
G
A
A
T
3100 |
var(3083):[C:0.06]
A
A
A
C
G
T
G
C
T
C
C
A
C
T
T
T
T
A
A
C
C
C
T
T
T
T
C
C
G
C
T
T
C
A
G
T
A
A
A
A AGAAGTAACA
3150
TGCACCAAGT TTCTGCTACC A
G
A
A
T
G
T
A
A
C
T
G
G
T
T
T
C
T
T
C
A
C
C
A
A
T
T
A
A
T
3200 |
REPEAT
A
A
G
A
G
T
A
A
T
T
A
A
T
G
G
A
G
A
T
C
C
T
G
G
C
A
C
A
T
A
G
C
A
G
A
T
A
C
C
T
A
A
T
T
A
A
T
G
T
G
3250
T
G
A
T
G
A
A
T
A
A
A
C
A
A
A
T
GAAG TATA
C
GCATG CAATAAAGAG TGCTTTCTTA
3300 |
var(3275):[T:0.06]
ATTATTATTT GGGCGCTACA AATTGGAATT TTCCAATGCT TACTCATTTC
3350
TGTGAGTTAC AAAATTATGA TCAGGGAACT ACTATAAAAT GTTTAAATTT
3400
TATAACATTT CAAAACTTTT GACACGGATT GAATTATCAG TATTATTAGA
3450
GCCTAAATGT TCTCAGATCC ATGTTTTCCA GGGAAGGACT CAATTTGCCA
3500
TAGACTTTAA ACTGAAATCT TCAGCCCTGA ACTACTACAG CTTACCAATA
3550
ATCACATACG ATCATGAACA TAAAGCAACA TAAATTGTTC AAACCTC
A
CT
3600 |
var(3598):[T:0.03]
ATACAAAATA AACTCCCCTT CTCTGTGGGG AA
A
GTTTCCC CTCAACAGAA
3650 |
var(3633):[:0.04]
ACCACATGCT AGTATAGTTG TCCAAGATTT TAGG
C
AAGGA TGCATTCTTA
3700 |
var(3685):[T:0.03]
TTAATATTTA AACTGGTCTT TTGCAAGTAT TTTCCTTTTC CTCAAACCTG
3750
GAATGG
C
A
T
G
A
G
G
A
A
A
A
A
A
T
A
T
C
G
G
T
T
T
T
T
A
A
A
A
A
T
C
A
G
A
G
A
T
A
A
T
G
C
A
A
3800 |
NOT SCANNED
C
A
A
A
T
A
G
G
A
A
T
C
A
T
A
T
T
T
G
T
A
G
C
A
A
T
A
C
G
G
G
C
T
T
C
A
A
A
A
T
G
A
T
T
T
T
A
G
C
A
3850
A
T
C
C
C
A
G
A
T
A
T
C
A
T
A
T
A
T
G
A
T
G
A
G
C
A
C
T
A
A
A
C
T
C
T
A
A
A
C
T
G
A
A
T
T
A
G
C
C
T
3900
A
T
C
T
G
A
T
C
A
G
C
A
G
A
G
G
C
T
G
T
G
G
C
A
A
G
A
A
G
G
A
G
G
C
A
G
C
T
G
C
A
G
A
T
C
C
C
T
G
C
3950
A
G
G
A
G
G
G
G
T
C
C
A
G
T
G
G
C
T
C
T
C
T
G
C
A
C
T
C
T
A
T
C
T
G
C
A
T
T
T
G
T
A
T
T
C
T
C
C
A
G
4000
A
A
T
G
A
T
C
G
A
T
C
C
C
A
G
A
A
T
A
C
T
T
T
G
A
G
T
A
C
A
C
T
G
G
C
A
C
A
G
C
A
G
A
C
C
A
G
G
A
A
4050
G
C
T
G
G
G
T
G
G
G
C
T
G
G
G
C
T
A
T
T
A
G
A
A
G
A
G
G
T
A
C
A
G
G
C
C
T
T
G
G
C
T
A
G
G
C
C
T
T
T
4100
G
G
A
T
A
T
G
G
T
T
A
T
A
A
T
T
A
T
G
A
G
G
G
T
T
T
C
C
A
A
C
A
A
A
G
C
A
T
T
G
G
A
T
T
C
T
G
G
A
G
4150
T
G
C
A
G
G
A
T
A
A
G
A
A
G
A
A
T
C
C
T
A
G
C
T
A
T
T
C
A
T
T
T
G
T
T
A
T
T
T
A
A
C
T
G
T
T
T
A
C
A
4200
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
C
A
C
A
C
A
C
A
C
A
T
A
T
A
T
A
T
A
T
A
C
A
4250
C
A
C
T
A
T
A
T
A
C
C
G
A
T
G
A
T
C
T
G
A
T
T
T
A
G
T
C
A
G
G
A
G
A
T
A
A
C
C
A
C
C
T
A
A
G
T
C
C
C
4300
T
A
T
G
T
G
C
T
G
T
G
G
G
A
A
A
T
T
G
C
T
T
TACTGATC CTGTACCACT CCACTACTCC
4350
CTTTCTTGTT GTGTCAATGT TAAGAGATTC CTGAGCAGAT TCCTGAGAGA
4400
TTCCTGTTTC ATTAGATAAT AGATAAGACT CAAATTGAAA TTTTTATCTA
4450
AACTCCTGAT TTCCACATTA CTTCCTGTTG CACTGCCAGG CTAATAGAAA
4500
CTCTCTTTGG AAGGAGACTG CACTATAATA TTTATTATTT TGTAATAAAA
4550
TAATATTTTT GTACTAATTC TACT
A
CTGGA TATAAGATAG AATTTCTGTC
4600 |
var(4575):[G:0.04]
TAATTTCTAA TTTTACTGGA AAACACCTGT TCTACACACA GACACATAAA
4650
AGTCTTAGGA GATGACTGTT AAGTTGGAAG TTCTCCAAAC CTTTAAACAG
4700
GAAAACATAC CCTCAGACCA GTAATATCCC AGGACCCTAG ATGTCTTCAC
4750
ATTGGCAGAC TTTTCTGAAA TGAGAAGAAA AAGCATCTGT CACTG
T
TTAA
4800 |
var(4796):[C:0.04]
TCTATGAAAA AAGAGATGCT TAGAAGGTAT GGTTTCCTTA CACACT
T
A
G
A
4850 |
NOT SCANNED
A
C
T
T
A
T
T
G
C
A
T
T
C
C
C
A
G
A
A
C
T
C
A
C
G
C
T
T
T
T
A
T
C
A
T
A
C
T
C
T
T
T
A
G
C
A
A
G
A
C
4900
A
T
T
T
A
C
T
T
T
A
A
A
A
T
A
T
T
A
T
T
A
A
A
A
A
T
G
A
A
G
A
G
A
A
A
C
A
A
A
T
G
A
T
T
G
A
T
A
T
A
4950
T
A
A
A
A
A
A
T
A
C
A
T
G
A
A
A
T
A
T
T
T
A
A
A
A
A
C
A
A
T
A
T
A
A
A
T
T
T
T
A
T
A
C
A
G
A
A
C
A
A
5000
T
A
T
T
A
C
T
T
T
A
C
T
C
A
T
G
A
T
T
C
C
T
A
T
G
T
C
T
T
G
G
T
T
G
G
G
T
C
A
C
G
T
A
A
C
C
A
A
A
C
5050
A
T
A
A
A
A
G
T
A
T
A
C
T
T
G
T
C
C
A
T
T
T
C
T
T
T
C
A
T
G
A
A
A
A
G
A
A
A
T
C
T
T
G
T
T
A
T
T
A
G
5100
A
T
C
T
T
A
C
T
A
A
A
T
T
C
T
T
C
T
T
T
G
A
A
T
T
T
G
T
A
T
A
C
A
T
A
A
A
T
T
C
C
T
T
T
T
T
C
T
T
T
5150
T
C
C
A
G
A
A
G
G
A
G
G
G
C
T
C
A
A
T
A
A
T
C
T
C
C
C
A
G
T
T
T
T
T
T
G
C
A
C
A
A
T
A
T
C
G
G
T
C
A
5200
A
A
A
G
A
G
A
T
C
A
A
T
A
T
T
A
C
A
T
T
T
C
A
C
A
A
G
G
G
G
A
T
A
G
A
T
C
A
G
A
A
T
TACTCAGA
5250
AGCAAACTTA TCCAAAACAG ATGTATTATT TCCTCACATT ATAAAATATG
5300
AGTTGGACAG T
G
TTGGCTGT CCAGCAGTTT AGAGACAAGA TGTTCAGAGT
5350 |
var(5312):[A:0.06]
TA
C
GTCAGAA TCTCATACAA ATATTTGTCC CTTTGACCTT GGACACAGTA
5400 |
var(5353):[T:0.02]
CTATTGTGTA CTGTGTTGTC ACTAGACAAC CTTTCTTCAT AAATAGGTGA
5450
TTTCACAATT TGTTGAAAGA TAACTGAAGC TTATTTCTTC TAGAA
T
AATT
5500 |
var(5496):[G:0.09]
ATTAATTCAC ATAAAAGTTG CTTAAAAAAT ACCAGGATGG TACAGGATTC
5550
AATATTCTAT CAAA
C
GTTTG TTGTATACAT GTATCTGTAT GTGGTGTGAA
5600 |
var(5565):[T:0.10]
CTAGGAGGGG ACTATCAATC CAAAATGGGA TGTTGTCCCA TCCACTTTTG
5650
TAGCCACCAG ACATAACTTG TGGCTAGTGA C
A
T
A
T
G
T
T
G
A
A
A
T
A
A
T
A
A
T
A
5700 |
REPEAT
T
T
T
T
G
A
A
T
A
T
A
T
T
A
T
G
T
T
A
A
A
T
A
A
A
T
A
T
A
T
T
A
T
T
A
C
A
A
T
T
A
T
T
T
T
T
A
C
C
T
5750
T
T
T
G
T
A
A
A
T
G
T
G
A
T
A
T
T
A
G
A
A
A
A
T
T
T
A
A
T
A
T
T
G
C
A
T
A
T
G
G
A
A
C
T
C
A
C
A
T
T
5800
G
T
A
T
T
T
C
AAA TAGCACTCTG ACAAGTATTT ACTTAGCACA
C
TCTTGCCCA
5850 |
var(5841):[G:0.01]
GACACAGCAG AAAGTCCAAA TAAATGAATG AGTACCCTAG
C
GTAAAACCA
5900 |
var(5891):[T:0.05]
CTGGAAAAAT CAAACTGTTT TTCTGAATAT AGAAAAGCCA AATTTAACTT
5950
TAAATCATCA AGATTTTTTC TCCAGAATAA TCGGAATCTA TAGTTGCATC
6000
TTCTTCTTGG TGGGGTTGTG GGAGTCTGCT TTCTCTATCA GGGAATTCTC
6050
ACAACACATT TCCTTAAGCT GGAAATTAGG TACAGCTATA ACCCCTAAAT
6100
ATAAAGAGTC TTTTTCCTAG GATTTCTCTC TCTCTCTCTC TC
T
C
AAAGTT
6150 |
var(6143):[:0.84]
CTTAGGTGAT AAATTGGGTC ACAGAGGCAG AAACCATAAT TTATATTTTG
6200
TGATATCCCA CAG
C
T
C
T
T
C
T
G
C
A
A
A
T
C
G
A
G
G
C
T
G
G
A
C
C
A
C
C
T
G
A
G
T
C
A
G
C
6250 | Exon 3
P L L Q I E A G P P E S A 141
A
G
A
A
T
C
T
A
C
A
A
A
T
A
T
A
C
T
C
A
A
A
C
T
T
T
G
T
C
C
T
C
G
T
G
A
A
G
A
A
T
T
C
C
T
G
A
G
A
C
6300 |
var(6283):[A:0.02]
E S T N I L K L C P R E E F L R 157
T
G
T
G
T
A
A
A
A
A
A
A
A
T
C
A
T
G
A
T
G
A
G
GTGCTGT GCTCTCTGTA TGAAATGGGG
6350
L C K K N H D E 165
AAGAAGAGAG AAACAATTGC TTTCATTAAA TGCAATGCAC A
T
T
T
T
T
A
A
A
A
6400 |
REPEAT
A
T
G
G
G
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
C
A
G
C
C
T
G
G
A
G
T
G
C
T
G
T
G
G
T
G
T
G
A
T
C
A
T
A
G
6450
C
T
G
A
C
T
G
C
T
A
T
C
T
T
G
A
A
C
A
C
A
T
G
G
G
C
T
C
A
A
G
A
G
A
T
T
C
T
C
C
A
G
C
C
T
C
A
G
C
C
6500
T
C
C
C
A
A
G
T
A
G
T
T
A
G
C
A
C
T
A
C
A
A
A
T
G
C
A
C
A
C
T
A
C
C
T
T
G
C
C
A
G
G
C
T
G
A
T
T
T
T
6550
T
T
T
T
T
T
A
A
T
T
T
T
T
G
T
A
G
A
G
A
T
A
T
A
G
T
C
T
C
C
C
T
A
T
G
T
T
G
T
C
C
A
G
T
C
T
G
T
T
C
6600 |
var(6566):[T:0.07]
T
C
C
A
A
A
T
C
C
T
A
T
C
T
T
C
A
T
G
A
G
A
T
C
C
A
C
A
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
C
A
C
T
G
6650
G
G
A
T
T
A
C
A
G
G
C
G
G
G
A
A
C
C
A
C
A
G
T
G
C
C
AGCC ATAAATGCAC AAATACTTAA
6700
AGCACTAAAT GATGAGGGGG TGGTGACAGT GGTAACCTTT ATGATAGATG
6750
CTTTCAGCAG GCAAGGGTTC ATA
T
GGCTTC AAACAAATAC CAGTGCTCAT
6800 |
var(6774):[A:0.07]
TCAATCCATG ATAAAATGTA GCTTTCTC
T
T
T
T
T
T
ATCATT TATTGATTTT
6850 |
var(6829):[:0.03]
TGTATCAATT TGGGATTTAT TACAATTTCA GATAAAGCCA CAAAATAAAA
6900
TGTTTATAAC ATGGCTGAGT AGTAATTGTT TATACCCAGT TGAAAAGCCT
6950
AGACATAAAA TATATTTGAA AAGTATAATT AAATCTTGAA AATCATTGTA
7000
AGTTTATGTT TTTAAAATAG TACCAAAATA ATCATAATAC GGAAGGCAAA
7050
GAAAATTTGC TATATTTATT TTTACTGGAG CCGATGACAA CACCTCTTGG
7100
TTTATATGAA ATTTGATTTG AACCTAAATA TAAGAAATGT TTGAGTAGGT
7150
GGAGAAGAAA AAGGAGAAGG AAGGGGGTAG GAATTATTCT AGTTTCCTCA
7200
AGATTCTAGA GTGATCATTC CAGATATGTC CTGGTTCTTG CTCTGGGCTC
7250
TTGAGAGAGA GGAAGGCAGT GTCTTCTGAT AGAGGTTAGG GAAGGTGGCA
7300
GCTGCATGAG GTCTTAAAAA AGCAAAATTG TGAGGCATAT GGAGGTTGAA
7350
AAGAGACTCG GGTAATCAAA GTTGCTTCAT CTCCATCTCC TGCAG
A
T
C
T
A
7400 | Exon 4
I Y 167
T
C
C
A
A
T
A
A
A
A
A
A
G
A
G
A
G
A
G
G
A
C
C
G
C
A
G
A
C
G
C
C
T
G
G
C
T
C
T
C
A
T
C
A
T
A
T
G
C
A
7450
P I K K R E D R R R L A L I I C 183
A
T
A
C
A
A
A
G
T
T
T
G
A
T
C
A
C
C
T
G
C
C
T
G
C
A
A
G
G
A
A
T
G
G
G
G
C
T
C
A
C
T
A
T
G
A
C
A
T
C
7500
N T K F D H L P A R N G A H Y D I 200
G
T
G
G
G
G
A
T
G
A
A
A
A
G
G
C
T
G
C
T
T
C
A
A
G
G
C
C
T
G
G
G
C
T
A
C
A
C
T
G
T
G
G
T
T
G
A
C
G
A
7550 |
var(7501):[C:0.04]
V G M K R L L Q G L G Y T V V D E 217
A
A
A
G
A
A
T
C
T
C
A
C
A
G
C
C
A
G
G
G TAAGAACCCC TAAGCCATCT CACACTCATC
7600
K N L T A R 223
CATAGGCAAC ACAGATTCTT CTAATAATTA GTTAGCTTTA TAGAAGTTCA
7650
ACAAGGTTTA ACAACCTCTG GGTTCGTGTG CGTGTG
C
G
T
G
T
G
TGTGTGTG
7700 |
var(7687):[:0.97]
TGTGTACATG CGCACATGCA CTAGCAAATG AAATTATTGA ACACATAAAT
7750
CAGTGTCTCT TTTGAGCCTC AAATACCCTC AACTCCATAA AACTAGACAA
7800
AATATGA
T
TG GCATGTATTT TCGCAATTGT TACTGAGTTC CAATAAGATC
7850 |
var(7808):[C:0.01]
AGGTGATTGG GATGTAGCCC CAAGATTCCA CATAAAATCA CAGAGTAATG
7900
TGTTTTAGGC AGGAGGGCAC TCTA
T
T
T
T
T
A
T
T
T
T
T
A
T
T
T
A
T
T
T
T
T
T
G
A
G
A
7950 |
REPEAT
C
C
A
A
G
T
C
T
C
A
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
T
A
G
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
8000
T
C
A
C
T
G
C
A
A
C
A
T
T
C
A
C
C
T
T
C
C
A
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
C
T
A
C
C
G
A
G
T
A
G
8050
C
T
G
G
G
G
C
T
A
C
A
G
G
A
G
C
G
T
G
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
T
T
T
C
T
C
T
A
T
T
T
T
T
8100 |
var(8066):[T:0.01]
A
A
C
A
G
A
G
A
T
G
A
G
G
T
T
T
C
A
C
C
T
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
8150 |
var(8141):[C:0.04]
C
C
T
C
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
T
G
C
T
G
G
A
A
T
T
A
C
A
G
G
C
G
T
8200 |
NOT SCANNED
G
A
G
C
C
A
C
C
G
C
A
C
C
C
G
G
C
C
C
A
G
G
A
A
T
G
C
A
C
T
C
T
T
A
A
A
A
C
A
A
A
T
A
T
T
A
A
A
T
C
8250 |
REPEAT
C
A
A
A
C
T
T
T
G
G
G
G
C
C
A
A
G
A
G
C
T
T
T
T
C
C
T
G
A
T
A
C
T
G
T
G
G
A
T
A
A
G
T
C
T
G
T
A
A
A
8300
T
G
A
T
A
C
C
A
G
A
A
G
T
T
T
C
A
A
A
T
T
G
C
A
A
G
G
A
T
C
T
A
G
G
T
T
A
G
A
G
T
G
G
A
G
G
T
A
A
A
8350
A
T
C
T
C
A
C
A
A
T
A
T
A
A
A
C
G
A
A
A
C
C
G
G
A
C
A
A
T
T
T
C
A
G
A
T
A
A
T
G
A
G
T
G
T
G
T
G
T
A
8400
T
G
T
G
T
C
T
A
T
A
T
A
A
G
A
A
T
A
A
C
A
A
G
A
G
A
A
T
C
C
A
A
A
G
T
A
A
G
C
A
A
A
A
A
G
G
A
A
A
C
8450
A
T
G
A
G
A
G
A
G
A
A
T
G
T
T
G
G
A
T
G
G
G
G
T
G
C
G
A
T
G
T
T
T
T
T
G
G
G
T
T
G
G
T
C
C
A
G
A
A
A
8500
A
G
C
C
T
C
T
G
T
G
G
G
G
A
G
A
G
A
A
C
A
C
A
G
G
A
G
T
T
G
G
A
C
G
G
C
A
C
T
A
C
C
G
G
A
A
G
G
A
A
8550
T
G
G
A
A
T
G
G
C
T
C
T
G
G
G
A
A
G
A
T
G
A
G
A
A
T
G
C
A
G
C
G
C
C
T
T
C
C
C
A
G
T
A
G
G
G
G
G
C
G
8600
C
T
A
C
C
T
G
T
G
A
A
A
G
A
G
C
T
G
A
G
C
T
G
A
A
A
A
T
G
A
A
A
C
T
G
G
C
A
C
A
T
G
T
G
A
G
G
C
A
C
8650
A
A
C
A
G
A
T
C
A
G
T
G
T
G
A
C
T
A
G
A
G
ATTGAAGCA GAACAGACAT AGTATAAGGA
8700 |
var(8653):[G:0.04]
TGAGTA
T
GGT CAGGCCAGAA GATTGATTTT ATTCTAAGCA ACGTATGTTG
8750 |
var(8707):[C:0.04]
GGTTTTACAA GGACAGTGGT GTGATGCGTT TATAACACAT GACTCTTGTT
8800
AGGAAAGGAG AGAAAAGATT GAGAT
A
AAAA AAAGTAATAT AAGTAACATA
8850 |
var(8826):[T:0.04]
TAAAAATATA CAATATATTA AGAAGACAGT GTATGGTGTG TCAGCAGGGA
8900
GAAAAAG
T
AG GAACCCACAG CCCCATTACA AAGGAAAAAA AAA
A
CAAAAC
8950 |
var(8908):[C:0.01]
|
var(8944):[C:0.01]
AAAAAAACAT AAAACTGCTG TCATGACTGA GTAAGCGCTA TGTGAAGCAC
9000
CACGACC
C
GG ATGTTACATA TGTTTCTTGT TTCGCTCATG GTAAATCTAG
9050 |
var(9008):[T:0.07]
GAGGTCCTAT TAATTGTGAT GCTTCTCTGA CTGAAGTTAG ACATTGCTCT
9100
TTTATAG
G
A
T
A
T
G
G
A
G
T
C
A
G
T
G
C
T
G
A
G
G
G
C
A
T
T
T
G
C
T
G
C
C
A
G
A
C
C
A
G
A
G
C
9150 | Exon 5 |
var(9137):[C:0.04]
D M E S V L R A F A A R P E 237
A
C
A
A
G
T
C
C
T
C
T
G
A
C
A
G
C
A
C
G
T
T
C
T
T
G
G
T
A
C
T
C
A
T
G
T
C
T
C
A
T
G
G
C
A
T
C
C
T
A
9200
H K S S D S T F L V L M S H G I L 254
G
A
G
G
G
A
A
T
C
T
G
C
G
G
A
A
C
T
G
C
G
C
A
T
A
A
A
A
A
G
A
A
A
A
A
A
C
C
G
G
A
T
G
T
G
C
T
G
C
T
9250
E G I C G T A H K K K K P D V L L 271
T
T
A
T
G
A
C
A
C
C
A
T
C
T
T
C
C
A
G
A
T
A
T
T
C
A
A
C
A
A
C
C
G
C
A
A
C
T
G
C
C
T
C
A
G
T
C
T
A
A
9300 |
var(9283):[A:0.01]
Y D T I F Q I F N N R N C L S L 287
A
G
G
A
C
A
A
A
C
C
C
A
A
G
G
T
C
A
T
C
A
T
T
G
T
C
C
A
G
G
C
C
T
G
C
A
G
A
G
G
T
G
GTGAGTGC
9350
K D K P K V I I V Q A C R G 301
TGAGGCTGAA CATCTAACAG TTTTGAAGGT GTAT
G
CAGAG GATTGTGATG
9400 |
var(9385):[A:0.06]
TTTGGTTTAT ATTTAGGGGA AACAATGTTA GACCCCATCC AGTGCAAATA
9450
AAGTACATTG AATTATG
A
AG AAACTCTACC TAAGGGGCTG ATATAATGAG
9500 |
var(9468):[T:0.01]
AAATTGTCTC ATCAGTGGAG AAATTTCTGT ACAATTTTAT CCACGGTGAT
9550
AGTGGTGAAG GAAGTGGTGA AGGAGATCAT CAGAATCCCT AAATCAAAGT
9600
TAAACAGAAA TATTCAAACT TTGAAATGGA ATCATTTACA TGATAGCTTG
9650
ATTTGTAAAT GATTTACAGA CATGTTGACA TTATGTGGTT TCTGAAGAAT
9700
TTGCACTTGA AACTGAAGTT ATTATGT
G
AT ACAAGCACCC TATTTATTCA
9750 |
var(9728):[A:0.01]
CAATTATTGA AGGGAAAATG AGTTGGGAGT TAAGGAAACT TGAGGGGATT
9800
TAAGTCAAT
C
TTCTCTCTCC CTCTTTTTAT TCCTGACTTC CAATTACCTC
9850 |
var(9810):[T:0.01]
ATGA
C
T
A
T
T
G
G
G
A
T
G
T
A
T
A
T
T
T
T
G
T
T
T
T
G
T
T
T
C
T
T
T
A
A
G
A
A
A
G
C
A
G
C
A
A
T
9900 |
NOT SCANNED
A
A
T
T
T
A
A
C
T
G
A
A
A
A
C
T
G
G
T
A
A
T
G
A
C
A
T
G
A
T
A
A
A
T
T
C
A
C
T
A
T
T
A
A
T
T
T
A
C
A
9950
C
A
T
T
G
T
T
G
A
A
T
G
A
C
A
C
T
A
G
A
G
A
C
A
A
A
G
C
A
A
A
A
T
G
T
G
T
G
T
G
T
G
T
G
T
T
T
G
C
A
10000
T
G
T
G
T
G
T
G
G
G
T
C
T
G
T
A
T
G
T
A
T
G
T
A
T
G
A
A
A
T
T
A
G
T
T
A
G
A
A
A
G
A
A
C
A
C
T
G
A
A
10050
A
A
A
T
A
A
C
A
A
G
G
T
G
G
G
C
A
A
T
T
G
T
G
A
T
A
G
C
C
A
T
G
C
T
A
A
G
T
G
A
G
G
C
A
C
A
T
C
A
G
10100
T
G
T
A
T
A
A
A
A
A
G
T
T
G
A
T
G
T
C
T
C
T
T
G
A
T
C
C
A
A
C
C
C
A
A
A
T
G
T
T
C
A
T
C
A
A
T
G
A
T
10150 |
REPEAT
A
G
A
T
A
G
A
C
T
G
G
A
C
A
A
A
G
A
A
A
A
T
G
T
G
G
T
A
C
A
C
A
T
A
T
C
C
C
A
T
G
G
A
A
T
A
C
T
G
T
10200 |
var(10199):[C:0.01]
G
T
A
G
C
C
C
T
A
A
A
A
G
G
A
A
T
G
A
G
A
T
C
A
T
G
T
C
C
T
T
T
G
C
A
G
G
G
A
C
A
T
G
A
A
T
G
A
A
G
10250
C
T
G
G
A
A
G
C
T
A
T
C
A
T
C
C
T
C
A
G
C
A
A
A
T
T
A
A
C
A
C
A
G
G
A
A
T
A
G
A
A
A
A
C
C
A
A
A
C
A
10300
C
C
A
C
T
T
G
T
T
C
T
C
A
C
T
T
A
T
A
A
G
T
G
A
G
G
G
T
T
G
A
A
C
A
A
T
G
A
G
A
A
T
A
C
A
T
G
G
A
C
10350
A
C
A
G
G
G
A
G
G
G
G
A
A
T
A
T
C
A
C
A
C
A
C
C
G
G
G
G
C
C
A
G
T
C
G
G
G
G
G
G
T
G
G
G
C
G
A
C
A
A
10400 |
var(10374):[T:0.01]
|
var(10386):[C:0.01]
G
G
G
G
A
A
G
G
A
G
A
G
C
C
T
T
A
A
G
A
C
A
A
A
T
A
C
T
T
A
A
T
G
C
A
T
G
T
G
G
G
C
T
T
A
A
A
A
C
C
10450
T
A
T
A
T
G
A
T
A
G
G
T
G
C
A
G
C
A
A
A
C
C
A
C
A
A
T
G
G
T
A
C
A
T
G
C
G
T
A
A
C
T
A
T
G
T
A
A
C
A
10500
A
A
C
C
T
A
C
A
C
G
T
T
C
T
G
C
A
T
T
T
C
T
A
T
T
C
T
G
G
A
A
C
T
T
A
A
A
G
T
A
A
C
A
T
A
A
A
A
A
A
10550
A
A
A
A
G
A
A
AGT TGATGTCTCT ACAG
A
A
A
A
A
C
A
T
G
G
G
G
A
A
C
T
C
T
G
G
G
T
C
A
G
A
10600 | Exon 6
E K H G E L W V R 310
G
A
C
T
C
T
C
C
A
G
C
A
T
C
C
T
T
G
G
C
A
G
T
C
A
T
C
T
C
T
T
C
A
C
A
G
T
C
A
T
C
T
G
A
G
A
A
C
C
T
10650 |
var(10622):[C:0.48]
D S P A S L A V I S S Q S S E N L 327
G
G
A
G
G
C
A
G
A
T
T
C
T
G
T
T
T
G
C
A
A
G
A
T
C
C
A
C
G
A
G
G
A
G
A
A
G
G
A
C
T
T
C
A
T
T
G
C
T
T
10700 |
var(10679):[A:0.02]
E A D S V C K I H E E K D F I A 343
T
C
T
G
T
T
C
T
T
C
A
A
C
A
C
C
A
C
GT ATGTGTCTTT TAGTAACAGT CAAAAAT
T
TG
10750 |
var(10748):[G:0.01]
F C S S T P 349
GGGGTGCTGA GGCCACCTTT GAATGATTCT ATGAAATCAA GATAGGCCCT
10800
ATGCAACAAT GAGCTGAGAG AATGGTGTGT GCTCTCTATA TATTTTGCAT
10850
GATCTTATGT GTGCTGTGAG AATAGATTCC TTCCCCCT
C
C CACACA
C
ACA
10900 |
var(10889):[T:0.01]
|
var(10897):[T:0.03]
TTTTAAAAAA CTGTACTTTT ATTATAAGTG TTACACTTTA CAGTCAAAGG
10950
CATACCAAAT ATTAAAGCAA TACAATACAA GGAACCCCAT TCGCCACACA
11000
CCATGTAAAC ATAGATGATG GATGCTGTTT TTTTAATAAA TCCATTTAAC
11050
ATTTTGAATA GAAGTTTTA
T
GGATCCCAGT ACTGGCTGTC TTTCCAAA
T
G
11100 |
var(11070):[C:0.07]
|
var(11099):[C:0.38]
ATCAACTTCA AGCCCTCTTC TACATATATC CCACTTGATC CTACAAAGAG
11150
CAATGTTATT AAGTGTCCAG ATAAAAATGT GAATGAGCTT TAAAAAAGGT
11200
AAGAAATGTT AGGGTGGAGC TAATTAGGT
C
TAATTACAGG AAACAGTC
G
T
11250 |
var(11230):[G:0.04]
|
var(11249):[A:0.03]
TTGTATTTCA CCTCTA
G
GTA ATCATCCTAA AGGGCTTTCT ATTTTA
C
TCT
11300 |
var(11267):[A:0.01]
|
var(11297):[T:0.01]
TTCCAAGTTG TAAATTTTCA AGTCTTA
T
T
T
T
T
A
A
A
C
C
A
C
T
T
T
A
T
G
G
A
G
G
C
11350 |
REPEAT
A
T
A
G
C
T
G
A
C
A
T
A
T
G
A
A
A
A
C
T
G
T
A
C
A
T
A
T
T
T
A
A
T
G
T
A
T
G
C
A
A
C
T
C
A
A
T
A
A
G
11400
T
T
T
G
G
A
G
A
T
T
A
G
T
A
C
A
C
A
C
C
C
C
T
A
A
A
A
T
C
A
T
C
A
C
C
C
A
A
A
T
C
T
A
T
G
C
T
G
T
A
11450 |
var(11422):[T:0.01]
A
A
C
A
T
C
T
C
T
C
C
T
C
C
A
A
A
A
G
A
T
T
C
C
T
C
C
A
G
C
T
C
T
C
T
A
T
T
T
A
T
T
A
T
T
A
T
C
A
T
11500 |
var(11468):[T:0.03]
C
A
T
T
C
T
G
C
A
A
G
G
G
T
G
T
G
A
T
A
A
G
G
A
T
A
A
T
T
T
A
C
A
T
A
A
G
A
T
C
T
A
C
T
C
T
C
T
G
C
11550 |
var(11522):[A:0.04]
A
A
A
T
T
T
T
T
A
A
G
T
A
T
A
T
A
A
G
A
C
A
G
T
A
T
T
A
T
T
T
A
C
T
A
T
T
G
G
C
A
C
C
A
T
A
T
T
A
T
11600 |
var(11566):[C:0.02]
A
C
A
G
T
A
T
T
T
T
T
C
T
A
T
A
T
T
T
T
A
A
T
C
T
T
C
T
A
T
A
A
C
T
G
A
A
A
C
T
T
T
GGATGTGT
11650
TCATCTATTT TGTTTATT
A
T ATGGTGAAAG ACATCATGGT GCAATCTGTA
11700 |
var(11669):[T:0.31]
AACAATCTTG GAGCCCGACG GTAGTTTTTT GTTGCTTCCT CACTGAACCT
11750
AAAAGT
T
TAT TCATCCTTCT GAGCTTCTAT TCTTTCCTTT GTAAAGTGAA
11800 |
var(11757):[G:0.01]
A
G
AATTCCAG TTATTTCTCA AGTCCCCTTT TCTAAGCAAA GTGAATGAAC
11850 |
var(11802):[C:0.04]
ATGAGGTCCA TAATAAAAAG TTAGTTCCAA GAATCAAAAT ACAATCACTA
11900
TGCAATCTCT TGCAATACTT ACAAGCTGTC TTTTTTGTTC AACCTTTGCC
11950
AGCTTTTCTG TTTCCTCTGT GTGAAACCTA AGTAAATGTT TGGTTATAAG
12000
GGATTTCCAT AAATCTATCA AGTAAATTCT CAAGCTATGC AAAAACAAAA
12050
ATATAAACAA AAACATAGTG AAAGTCGTAG CCCAAGGCAT ACCAG
G
CTGT
12100 |
var(12096):[A:0.01]
ATCATCATAG
A
T
A
A
C
G
T
G
T
C
C
T
G
G
A
G
A
G
A
C
C
G
C
A
C
A
A
G
G
G
G
C
T
C
C
A
T
C
T
T
12150 | Exon 7 |
var(12112):[C:0.02]
H N V S W R D R T R G S I F 363
C
A
T
T
A
C
G
G
A
A
C
T
C
A
T
C
A
C
A
T
G
C
T
T
C
C
A
G
A
A
A
T
A
T
T
C
T
T
G
C
T
G
C
T
G
C
C
A
C
C
12200 |
var(12158):[C:0.01]
I T E L I T C F Q K Y S C C C H 379
T
A
A
T
G
G
A
A
A
T
A
T
T
T
C
G
G
A
A
G
GTAAGCTTCC ATTTCCTTTT CTAGTCATTT
12250
L M E I F R K 386
ACTTATTTGC TCAGAAAGAA TTTATCATTA TTCACTAATC GAATAAAAAT
12300
GACACAGTTT TTCAGGCAAG CAAAAGTAGT ATGGCACCTG ATTTCTGTCA
12350
TTCAGGTGTT TAAAATCTGC TTTAGAGAAA GAAAATGTCA ATATATCCCA
12400
GAAGAAGAGC AAAGTAAAAC AAAATAATAT CAGCTATAAG CTTCCTATTT
12450
TGGGTTATAA CTTATTAAAA TTCAGAGAAT AGAAAATATT TTGAA
A
TAAT
12500 |
var(12496):[G:0.02]
TTTTGTTAAT TTACTAAATG AATAAAAACT GGATGGAG
G
T GAGGGGCTTC
12550 |
var(12539):[A:0.04]
ATCCTGATGA CAAAGGGGTA AATGAGGCTT GCATGGCTTA AGACTATCTA
12600
GGACTCACAC TTTTGTGAGA GATATGGATA CTGAAAATAT GGGTTAACAA
12650
AAAAATGTGC AATTACAGAT TGTGGTAGAA TTCATAAAGG CATGTAAC
A
G
12700 |
var(12699):[G:0.01]
GGAATAAAAA AGAAATCACT CTTTCC
A
TGG GAAAGGGCAG AAGGGAAGGT
12750 |
var(12727):[G:0.04]
TTGCTACTCC TTGCCCAACT TGGG
A
C
A
T
T
C
C
T
T
A
T
T
C
C
C
C
A
T
C
C
T
T
C
C
T
A
12800 |
NOT SCANNED
|
REPEAT
C
T
T
T
A
T
T
T
T
C
T
C
C
A
C
A
G
T
T
C
T
T
A
C
C
T
C
C
T
C
C
C
A
T
T
A
A
G
C
A
T
A
T
A
T
T
A
A
T
A
12850
G
T
T
T
A
T
T
T
A
T
G
T
G
T
C
T
G
T
T
T
T
T
T
A
C
C
T
G
T
A
T
T
T
A
C
T
C
A
C
T
A
A
T
A
T
G
C
A
A
A
12900
C
T
T
C
A
G
G
A
T
G
G
C
G
G
G
G
A
T
T
T
G
C
T
C
A
G
C
A
C
C
T
C
A
A
T
A
T
G
C
C
T
G
A
C
A
T
A
T
A
G
12950
C
A
G
A
C
A
T
T
C
A
A
T
T
A
A
T
A
T
A
T
A
T
T
G
A
A
T
A
A
A
T
A
G
A
T
G
C
A
T
G
A
A
T
G
A
A
T
A
G
A
13000
T
A
A
A
T
GTTCC TTCTCTTTTT AAGGGAAAAT AGGATTGGTA TTAACACAGG
13050
AAAGTGTGGT TGTTTCTAAA TTAAAAATTA TAGAGAACAG TAAAACTCTT
13100
GTGGGAAAAG GAAGATATAC CACTGGTGTT TAAAGAAGAT TGTACCATAA
13150
ATTGAGATGG GGTTTCTGTG AATAGAGAAC TGGGAAGTTA AATCCTTTTG
13200
GATGATTAGG AATTAGACAT TGTACTTTTG AGGGTATTCC TGGGAAAAGA
13250
ACTAGAAATA TTGGATTTAC GGTAAGCAGG ATCTCATTGA TCAGTCCATG
13300
CATAAGATTT CAGAGGTCAG CATGGTGGTG TGGGCATGAA AGTTGTTCAG
13350
TGTTCAGGCC TTAAAGCAAG ATTCTGGGAT TTA
A
TTCTCC TTAAATTGAA
13400 |
var(13384):[G:0.04]
GAATCAGCGT TGGTGGGGGT TGAAAGTACT AAATCTTCCA TA
T
CCAGTTC
13450 |
var(13443):[C:0.01]
TCATGAGCA
T
ATCCCAAAGG ATATTTAATT GATTTCCACA TCCGTAGGTC
13500 |
var(13460):[G:0.01]
AAAAATGGAA A
A
TAGAGAAA ATGGAGGTTG AAAAGCCTTG ACTAGGCATG
13550 |
var(13512):[T:0.01]
CAGTGTTTAT TTTGATGTAA AGTGTACAGT ATGACA
T
GGG GTGTCAATTC
13600 |
var(13587):[G:0.01]
TAAGAGGTAG AGTAGCAGTG TTAAGGAGTT GGAATATCCA TGGGCTTGGT
13650
CCTATCAACC CTGGAAGCTC TCTTCATTCA GGCATTTCCT GGTTCATGGT
13700
GTAAGATGCA TTCTGAGAAC C
C
AAAATCCC TCATATCTCA TCTACTGTTT
13750 |
var(13722):[G:0.01]
TTTCTTTTAG
G
T
A
C
A
G
A
A
A
T
C
A
T
T
T
G
A
A
G
T
T
C
C
A
C
A
G
G
C
T
A
A
A
G
C
C
C
A
G
A
13800 | Exon 8
V Q K S F E V P Q A K A Q 399
T
G
C
C
C
A
C
C
A
T
A
G
A
A
C
G
A
G
C
A
A
C
C
T
T
G
A
C
A
A
G
A
G
A
T
T
T
C
T
A
C
C
T
C
T
T
T
C
C
T
13850
M P T I E R A T L T R D F Y L F P 416
G
G
C
A
A
T
T
G
A
A
A
A
T
GTAAG
T
A TTGAGAGTTG TTGGAGGGTG AAATAAATGA
13900 |
UTR
|
var(13869):[A:0.38]
G N 418
AAGAGCTATA TC
G
GTGGTGA AGTTCAATGA CCAATGACAG CTGAC
T
GCTT
13950 |
var(13913):[A:0.04]
|
var(13946):[A:0.07]
ATATGGTCAA GTTAGTGTTC TTTATTGATG TAGTCTGGTG AGTATTTATT
14000
TGCTCTTTTT TATTCTACTT ATATGCATTT AGTTTCCCTC AACTATATAA
14050
TCAATCAAAG GGTAAGGAAA ATTGCAGCAA AATGTAATAC ACAATGAAAG
14100
TCCTAGGTTA G
T
A
A
T
T
A
T
T
A
A
A
A
T
A
A
T
A
A
T
G
T
A
C
A
A
A
T
A
T
T
A
C
C
A
T
T
A
T
T
14150 |
NOT SCANNED
A
A
T
T
A
T
G
T
T
C
A
T
T
T
A
T
C
T
C
T
C
A
T
A
C
A
C
T
C
C
C
T
C
T
C
T
T
T
G
T
C
T
C
T
C
T
C
T
C
T
14200
G
T
T
T
C
T
C
T
C
C
C
A
C
C
T
G
C
C
A
C
A
C
T
T
A
G
T
T
A
C
C
A
A
A
C
A
G
T
G
C
A
T
C
A
G
A
C
C
T
T
14250
G
A
A
C
A
A
A
A
C
A
GAGTAAACAC AGGAGCTATC TAT
G
GGGAAA GCAGGGCTTT
14300 |
var(14284):[A:0.44]
GGTCCTCTGA GTGCACATAT
C
ACATTACTG TTGTT
G
A
C
T
T
T
C
T
C
C
T
T
A
G
T
14350 |
var(14321):[A:0.04]
|
REPEAT
T
C
A
G
C
T
A
A
A
G
A
T
G
G
G
G
T
C
C
T
T
G
T
C
A
C
A
C
G
A
C
C
A
T
G
A
G
A
A
A
T
T
A
G
A
C
T
C
A
C
14400 |
var(14379):[A:0.01]
A
G
A
C
A
A
T
C
T
G
A
A
A
G
G
T
G
A
G
G
A
G
G
G
C
A
G
G
G
T
T
T
A
T
T
G
T
G
T
G
A
A
A
A
G
G
A
A
A
A
14450
A
A
A
T
G
G
G
A
A
A
C
A
G
A
C
C
C
T
T
C
A
C
A
G
A
G
C
C
A
G
A
G
T
C
C
T
G
C
T
A
A
T
G
C
C
C
T
T
C
C
14500
T
G
C
C
T
C
G
C
A
G
A
T
T
G
A
A
T
A
C
C
A
G
G
T
A
C
C
A
C
C
C
A
G
G
A
A
G
A
G
G
A
G
G
G
G
C
C
A
G
G
14550
C
T
T
C
T
C
C
C
T
G
C
T
G
C
A
A
A
T
G
G
C
A
T
G
A
A
C
T
T
C
C
C
A
A
G
G
C
T
C
C
A
C
C
C
C
A
G
T
G
T
14600 |
var(14551):[:0.04]
G
C
A
T
T
C
T
T
C
C
C
A
G
T
G
C
A
C
A
G
T
C
T
G
G
T
G
G
G
A
G
G
T
T
C
T
G
C
C
A
G
G
G
A
G
C
C
C
T
T
14650
T
T
T
A
C
T
T
G
G
C
T
G
T
C
T
C
A
TTA CTGACATTCA GCCACAGTTA TGGGACTGTA
14700
GAAAATACAT
G
CTCAACTAT AGGTACTTTA T
T
C
A
G
G
A
A
A
A
C
C
T
G
C
C
T
T
G
A
14750 |
var(14711):[A:0.01]
|
REPEAT
A
A
T
A
A
T
G
A
A
A
T
T
G
G
A
A
T
A
A
A
G
A
A
T
G
C
A
C
A
G
A
G
T
T
G
G
A
G
A
G
T
G
A
A
T
C
A
T
G
T
14800
G
G
T
T
C
T
T
A
T
G
C
A
G
G
A
G
A
G
G
T
G
T
T
C
C
A
G
C
A
C
A
G
A
A
T
A
C
A
A
G
T
G
C
A
A
A
T
G
C
C
14850
C
T
G
G
G
G
C
A
G
A
A
A
T
A
T
G
C
T
G
A
A
C
A
G
G
T
T
T
A
A
A
A
A
G
A
A
C
T
A
C
A
A
T
G
A
G
A
T
A
G
14900 |
var(14872):[G:0.04]
|
var(14874):[T:0.04]
|
var(14892):[G:0.03]
T
G
T
G
A
C
C
A
A
A
A
G
A
G
A
A
T
G
C
A
A
G
T
G
A
G
G
G
A
A
C
T
G
A
C
A
G
A
G
A
C
A
A
A
T
T
A
G
G
A
14950 |
var(14940):[G:0.02]
G
A
A
A
C
A
G
T
G
A
G
G
A
G
C
C
T
C
A
T
C
A
C
A
A
T
G
T
G
C
T
T
G
A
A
C
A
T
C
A
C
A
T
G
G
T
A
A
A
T
15000 |
var(14955):[:0.01]
C
T
T
T
A
A
A
A
A
A
A
T
A
T
T
A
T
C
T
G
A
G
T
A
G
A
T
A
G
G
A
A
A
C
C
C
T
T
C
C
A
G
T
G
C
T
T
T
G
G
15050
A
A
A
A
G
A
G
A
A
G
T
G
A
C
A
T
A
A
T
T
T
A
A
C
T
T
A
G
G
T
T
T
T
A
C
A
A
A
G
A
T
A
T
T
C
C
T
G
A
G
15100
T
A
C
T
T
T
T
C
A
C
T
A
A
A
T
A
G
A
C
A
C
A
G
A
G
G
T
C
A
C
A
G
A
T
G
G
A
A
G
T
C
G
A
G
G
G
A
A
A
T
15150
G
G
C
A
A
A
A
G
C
A
T
A
T
G
G
C
A
G
A
A
G
A
T
G
G
A
A
G
A
A
G
A
A
T
C
A
T
A
A
T
G
A
A
G
G
A
T
G
G
G
15200 |
var(15161):[C:0.01]
A
T
G
A
A
G
G
C
A
G
T
G
A
G
G
G
GTAA CCATCTTGAC CTTCTGTCCT TTCTCTCTTC
15250
TGCAG
G
A
A
A
C
C
A
C
A
G
G
C
A
G
C
C
C
A
G
C
C
C
T
C
C
T
C
T
G
T
C
A
A
C
A
T
C
A
A
A
G
A
G
C
A
15300 | Exon 9 |
UTR
C
A
T
T
T
A
C
C
A
G
T
A
T
A
G
C
T
T
G
C
A
T
A
G
T
C
A
A
T
A
T
T
T
G
G
T
A
T
T
T
C
A
A
T
A
A
A
A
G
T
15350
A
A
A
G
A
C
T
G
T
A
TCT
T
TTTAGA TTGTATGAAC TGTATCTTTT TAGATTCTCT
15400 |
var(15364):[A:0.02]
AATAGACAAT ATAATTTCAA TGAAAATGGT GGAC
G
AGTGA AAAT
G
AAGTG
15450 |
var(15435):[A:0.01]
|
var(15445):[T:0.07]
GAAGAAACTA ACTAGATTTT CGAGTTTTAT GGCTCATGTA ACATCTATAC
15500
TTGGCTGATG AAGACGACTG GCTGTGACTT ACCGCCAACA ATAGAATGAA
15550
AGAAGATGGT GTTAAAAGT
A
T
A
A
G
A
T
A
C
C
A
C
C
T
C
A
T
A
C
C
C
A
T
T
A
G
A
A
T
G
A
15600 |
REPEAT
|
var(15579):[G:0.04]
C
T
C
C
C
A
T
C
A
A
A
A
C
A
T
A
C
A
A
A
C
A
A
A
C
A
C
A
A
A
A
T
A
A
C
A
G
G
T
G
T
T
T
G
C
A
G
G
G
A
15650
T
G
T
A
G
A
A
T
A
A
T
C
G
G
A
A
C
C
C
T
G
T
G
C
T
C
T
G
T
T
G
G
T
G
A
C
A
A
T
G
T
C
A
A
A
T
G
G
C
A
15700 |
NOT SCANNED
C
C
A
C
T
G
T
G
G
A
A
A
A
C
A
G
T
A
T
G
G
A
A
G
T
T
C
C
T
C
A
C
A
A
A
A
T
T
A
A
A
G
C
T
A
G
A
A
T
T
15750
A
T
C
A
T
A
G
G
A
T
C
C
A
G
A
A
A
C
T
C
C
A
C
C
T
T
T
G
G
G
T
A
C
A
T
C
C
C
T
A
A
A
A
T
A
A
T
T
G
A
15800
A
A
G
C
A
G
G
G
T
C
T
C
A
A
A
G
A
T
A
C
A
C
T
T
A
T
A
C
A
C
C
C
A
T
A
T
T
C
A
T
G
G
C
A
A
C
G
T
T
G
15850
T
T
C
A
T
G
A
T
A
T
C
T
A
A
A
A
T
G
T
G
G
A
A
G
C
A
A
C
G
A
A
A
G
T
A
T
C
C
A
T
G
G
A
C
T
G
A
A
A
A
15900
A
T
G
G
A
T
A
A
G
T
A
A
A
A
T
A
T
T
G
T
A
T
A
T
A
G
A
T
A
T
A
A
T
A
A
A
A
T
A
T
A
A
T
T
T
A
G
C
A
T
15950
A
G
A
A
A
G
G
A
G
G
G
A
A
G
T
T
C
T
G
A
C
A
T
A
T
G
C
T
A
A
A
A
T
A
T
A
G
A
G
G
A
A
C
T
T
T
G
A
G
G
16000
A
C
A
T
T
A
T
G
C
C
A
G
G
T
A
A
A
A
T
A
A
G
C
C
A
T
T
C
A
C
A
C
A
C
A
C
A
A
A
A
A
T
A
C
A
A
T
A
T
G
16050
A
T
C
A
C
A
C
T
T
A
T
A
T
G
A
G
G
T
A
C
C
T
A
G
A
T
T
A
T
C
A
G
A
T
T
C
A
C
A
G
A
G
A
C
A
G
A
A
A
G
16100
T
A
G
A
A
T
G
G
T
G
A
T
T
G
C
C
A
G
G
T
G
C
T
A
G
G
G
C
A
G
G
A
G
A
A
A
A
T
G
A
A
G
T
G
T
C
A
T
T
T
16150
A
A
T
G
G
T
T
A
T
A
A
A
G
T
T
T
C
A
G
A
T
T
T
A
C
A
A
G
A
T
A
G
A
A
A
G
A
A
T
T
C
T
G
G
A
G
G
T
A
G
16200
A
T
G
G
G
T
G
A
T
T
G
T
T
G
T
G
C
A
A
A
A
T
T
A
T
G
A
A
T
G
T
A
T
T
T
T
A
A
T
A
C
T
A
T
T
T
G
G
C
T
16250
G
T
A
C
A
C
T
T
A
A
A
A
T
T
G
T
T
A
A
G
C
T
T
G
T
A
A
T
T
T
T
G
T
T
A
T
G
G
C
A
T
T
T
T
A
C
T
A
C
G
16300
A
T
A
A
A
A
A
T
T
G
C
A
A
A
A
A
T
A
T
A
A
T
G
A
T
A
T
A
A
T
T
G
A
A
A
G
T
G
A
G
A
A
G
G
T
A
T
G
A
G
16350
G
G
C
A
A
C
A
T
T
A
A
T
C
A
A
C
T
T
A
C
A
T
A
G
A
G
A
A
A
A
T
T
T
A
A
C
T
A
C
T
G
A
G
C
A
A
C
A
T
T
16400
G
A
T
G
A
A
A
G
A
A
G
A
A
A
T
T
A
G
G
A
T
T
A
A
A
T
A
T
A
T
T
A
T
T
T
A
T
T
G
T
T
C
C
A
C
A
A
T
T
A
16450
A
T
C
A
A
T
A
A
A
A
A
G
T
A
T
G
A
A
C
A
T
C
A
T
G
A
C
A
T
C
A
T
C
A
A
A
T
A
T
T
A
G
G
T
A
G
A
A
T
A
16500
G
A
C
C
A
G
A
T
A
T
G
T
G
G
C
T
A
T
G
T
A
A
G
T
G
A
G
C
T
G
C
A
T
C
T
C
A
T
T
T
T
T
C
A
T
A
T
C
A
G
16550
G
T
A
G
T
C
A
A
T
G
G
C
A
T
T
G
T
T
T
A
T
G
T
T
C
T
A
T
A
T
T
T
C
G
G
G
A
A
A
C
A
C
A
G
A
G
G
T
A
T
16600
A
A
T
A
G
T
C
A
T
T
A
T
T
G
A
G
A
A
T
T
C
C
A
A
A
T
G
T
T
A
C
T
G
C
C
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
16650
A
A
A
A
T
A
A
T
T
G
A
A
G
G
A
A
A
T
T
A
C
C
T
C
T
A
G
T
A
T
G
T
G
G
G
A
C
T
A
A
A
G
G
T
G
G
G
G
A
G
16700
A
G
T
T
G
T
A
C
T
G
G
G
A
A
A
T
A
T
G
A
T
T
T
T
T
A
T
T
G
T
A
T
T
C
T
T
T
T
C
T
G
T
A
C
T
A
T
G
G
A
16750
C
T
G
T
C
T
C
A
T
G
A
A
T
G
T
A
T
T
A
C
TTTGACAAAA
C
ATTTAAAAT TA
T
ATTGAAT
16800 |
var(16781):[T:0.46]
|
var(16793):[C:0.04]
T
G
ACACTTTT AATAATTTAT AGATTTCTAA AAATCAGGTA GTATTGAATT
16850 |
var(16802):[A:0.02]
TTAATGTGTT GAATTTTTAA AGGGTTTGTC CTATGTTGTG AAGCAAAGAT
16900
TAAACAAATG GAGCAAATTG TTGATA
A
TAT ATGATACTGG TGCTATAAGG
16950 |
var(16927):[G:0.01]
AAAAAAGGTA TAGGTAAATA TGTGTCTG
C
C
A
G
T
T
A
T
T
T
A
T
T
T
A
T
G
G
G
T
A
T
17000 |
REPEAT
C
A
A
A
A
C
A
C
C
C
A
A
A
A
C
C
T
C
A
G
T
A
G
T
T
T
A
A
C
A
C
A
A
T
A
A
G
C
A
T
T
T
G
C
T
A
T
T
G
T
17050
T
C
A
C
A
A
G
G
T
T
A
C
C
A
G
T
T
A
G
C
T
A
G
G
T
A
G
G
T
C
T
T
G
A
C
TCTGC TGAGATTATC
17100
CATGTGTCTG AGATCACCTC TGCATGGGGT AGGCATCTTT ACTGAAAGGC
17150
TGGGATCTCT CATATGTTTG GAAAGCACAT GGCTGGTCTA GAATGACCTT
17200
GGCTGGCTGG GGCAGCTGGG CTCTTTTCCA CATGATGTGT CTTATTAGCC
17250
AGCAATGTGG CTCAGGCTCG TCCTC
A
TTTA GGTTCAGGTG TCCAC
G
AGGA
17300 |
var(17276):[G:0.03]
|
var(17296):[A:0.01]
AGAAGAGCAC CAGGCTTCAT AAAGCCTGAG CTGGGAATTG CACGAGATCC
17350
TTCTACT