PPID 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
TGCTGCTGTT GACACAAGGC TCCTGGCTTT TGAGACATTA TTTGAGTGCT
50
GGATTCCAAT ACTTTTTACT TTCTCATAAG AAAAAAAAAT GTGAAGCATC
100
TAAGGATATC TCCTGCCTTA TTGATAAAGT AAGCCTCAGG CTGAATCCAA
150
ATTGCTGAGC TCCAATAGAA CTACAGGGCA AAGCATCTAC ACAGGGAATT
200
GCCACTCTTC TCCAAAATTA GGCTTTATTA AGAGGCAAGG CTATGTTCTC
250
CTCATATATA T
G
TGTGTGTG TGTGTGTGTG TGTGTGTGTG TGTGTGTGTG
300 |
var(262):[A:0.27]
TA
A
A
A
A
G
T
A
A
A
T
G
T
T
T
T
A
C
A
C
A
G
A
T
C
C
C
C
A
T
A
A
G
G
G
A
A
A
A
G
T
G
G
G
C
T
A
T
A
350 |
NOT SCANNED
G
T
A
A
T
A
C
A
G
T
A
T
T
T
T
T
T
T
G
T
T
T
T
T
C
T
T
T
T
T
T
T
T
G
G
G
G
G
G
G
G
G
G
G
G
G
A
C
A
G
400 |
REPEAT
T
T
T
C
G
C
T
C
T
G
T
C
A
C
C
C
A
G
T
C
T
G
G
A
G
T
A
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
G
G
T
T
C
A
C
T
450
G
C
A
A
C
C
G
C
C
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
500
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
A
G
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
G
T
G
A
T
T
T
T
T
T
T
T
T
T
550
T
T
T
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
T
T
T
C
A
T
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
C
G
600
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
A
T
G
A
T
C
C
G
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
T
G
T
G
C
T
G
G
G
650
A
C
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
C
G
C
C
A AATACAGTTT TATCAGGAAT
700
CAAAACTGTG CTCTCTTCTG GACTCTCAGC TTTAGCTGTT TGGAGCGTTT
750
AGTCTAAGCC TTACCACTTA CATTGTAATG TGAAGATCAA ATTGTAACGA
800
CATGGCAATA ATAAGGCTCC TATTGGTTGG GTACCACC
A
G TT
T
A
T
G
C
C
A
G
850 |
var(839):[T:0.04]
|
REPEAT
G
C
A
T
T
G
T
A
C
T
G
A
T
T
C
A
T
G
T
C
T
T
T
A
A
T
C
C
T
C
A
A
A
A
C
G
A
C
C
T
T
C
C
G
A
G
G
T
C
A
900
G
C
G
T
T
T
T
T
A
T
T
C
T
T
T
T
T
C
C
A
G
A
G
G
A
G
C
A
A
A
C
T
G
A
G
T
T
T
C
T
G
A
G
A
A
G
T
C
A
C
950
A
C
C
C
A
A
C
T
T
G
G
T
G
G
C
A
G
A
G
C
T
G
A
C
G
C
T
G
G
C
A
T
G
G
G
G
T
T
G
A
C
T
C
C
A
A
A
G
C
T
1000 |
var(983):[A:0.01]
C
TCTACGCCA CGAGGGTGGG AAAGACAACG AAACACAAGC GAGAAGAATA
1050
ATGAGAACTG GGATCGCAAC TTCATTAAAT GAGAAGCCAG GAACAGGTGG
1100
CGGAGGGCAC GCGGTTCGCT GCACGGAGTC GCTCAGGCTC TTTGAAACAC
1150
CGCGCGGGGG AGCGGGGCGG TGCCGGAAGT CAGGCCATGG CTTCCGGTTC
1200
TTGCGTCGGA AGTGGCCGGT CAG
C
G
T
C
G
C
T
G
C
C
G
G
T
C
T
C
C
G
G
C
G
G
A
G
A
C
G
1250 | Exon 1 |
UTR
G
A
C
T
C
T
G
G
A
G
T
T
T
G
G
G
C
G
G
C
C
C
G
G
G
C
G
G
C
C
A
C
T
A
G
G
T
A
C
T
C
T
G
A
T
A
T
T
C
C
1300 |
var(1254):[G:0.01]
|
var(1265):[A:0.24]
|
var(1272):[G:0.25]
G
T
A
C
T
A
A
A
C
A
C
G
T
C
T
G
C
A
A
G
T
C
A
A
G
A
T
G
T
C
G
C
A
C
C
C
G
T
C
C
C
C
C
C
A
A
G
C
C
A
1350
M S H P S P Q A 8
A
G
C
C
C
T
C
C
A
A
C
C
C
C
A
G
T
A
A
C
C
C
T
C
G
A
G
T
C
T
T
C
T
T
T
G
A
C
G
T
G
G
A
C
A
T
C
G
G
A
1400
K P S N P S N P R V F F D V D I G 25
G
G
G
G
A
G
C
G
A
G
GTGAGCGGAG TCTGACGCTC GCGGAAAAGC CCCGAGGAGG
1450
G E R 28
CGGGGGTTCC CGGGATTTGG GGGATTCCAA GGGCGGAATG CGGCTCCGGC
1500
CGGTGACTGC TCAGTTTCGC GGAGGGGATG GCTGCCTAGG CTGGTCCGCC
1550
GGAGCAGGCC CGGAGATCTA GGGCTAGATC GATCCAGCGC CCTTGTATCA
1600
ATGCCATCGG TGGTGCGGAA GTTTCTGGAA ATTTCTAGTT CGGGAATTGT
1650
GGCGTCCTTT AGGTTTGCCT CCTGATTTGG TGGCACTT
C
C ACGCCACCTT
1700 |
var(1689):[G:0.01]
TGCACTACCA AGTTAGCATG AAATATTTTA TGTTTGCAAT GGGACAGTTC
1750
GGAAAGCATA TCCTGGGATA TGCGTCTGCT GGGCCCCAGG AAACTATATT
1800
TGCCACATGA GATAATATAT CAGCACGTGC TGTGTTATTT ATACGTTAAA
1850
GGGACTTGTT TGCTCATTGC TTTTGCCTTA TTACTGATTC TTAATTTAGA
1900
GGTCCGTTCA GATGAGCAAA CATTTTCTCT TAATTTGCCA TTGGGAAAAT
1950
GCGCTCAACG TAGTGATGGT GTTGCCTAGG TTACATAGCC GCTCAGAAGT
2000
TCCTAAGGCC TGGTGAATTA GGGAGCGTGT TGCTTTGTAA CTGGATTGGC
2050
CTTGTTCTGG AACACGTTGG AATTGCTGGC CAGGCAATGT GTTTGAATGC
2100
ATGTACAGGA CACACACACG TTTACACGTA CATTCAGTTT GTTGCAACTA
2150
GCTAGGGCTA GGTTTAATCT CACCTGTCTT AGCTGCTATC TAGAGGAGGA
2200
ATTTTTACAG CTTTTGCTTC AGAGGTTGCA TGAGGCAGTT TGCTCAGAGC
2250
ACAAA
G
GCTG CAGGTATACG TAACACGTGG CAAGTCCGCC CACCCAAAGA
2300 |
var(2256):[A:0.01]
CTGTTTAATT TTCTCCCGTT GGTTGCTTGG TGATTGGAA
A
TTCTCAGTAC
2350 |
var(2340):[G:0.01]
CTCTTGAAGA AATTACTCAG GATTTAAAAC TATTTGTATT TAATGATATC
2400
TCTTACATGG TGCTAATCTT TTGGCTACTA TAATTGGTTA TGATCCTTAG
2450
TGTAATGTTT CAAATCTGTT TATATACATA CATGACAGTA GGTAGACT
A
A
2500 |
REPEAT
A
T
T
T
G
A
A
T
A
T
T
A
G
A
A
T
A
A
A
A
T
A
A
G
A
T
T
C
A
C
T
A
A
T
T
C
T
A
G
T
G
A
G
T
A
T
A
T
T
C
2550
A
A
A
G
G
A
A
A
T
G
A
A
G
T
T
T
G
T
A
T
G
T
C
A
A
A
G
A
G
G
T
A
T
C
T
G
C
A
C
T
C
C
C
A
T
G
T
T
C
A
2600 |
var(2599):[G:0.01]
T
T
G
C
A
G
C
A
T
T
A
T
T
C
A
T
G
A
T
A
G
C
C
A
A
G
A
T
A
A
T
G
G
A
A
T
C
A
A
A
C
T
A
G
G
T
T
T
C
C
2650
A
T
C
T
A
C
A
G
A
T
G
G
A
T
T
T
T
T
T
T
T
A
A
A
A
T
T
T
G
A
T
A
T
A
T
G
T
G
C
A
C
A
G
T
G
G
A
G
T
A
2700 |
var(2672):[T:0.03]
C
T
A
T
T
C
A
C
C
C
A
T
A
A
A
A
A
A
T
A
A
T
G
A
A
A
T
C
T
T
G
T
C
A
C
T
T
C
T
G
A
C
A
A
C
A
T
G
A
A
2750
T
T
A
A
T
A
T
G
G
A
G
G
A
C
A
T
T
A
T
G
T
T
A
C
A
T
G
A
A
A
T
A
A
G
C
T
G
G
G
C
A
C
A
G
G
A
A
G
A
C
2800
A
A
G
G
C
A
T
G
A
T
C
T
C
A
C
T
T
A
C
A
T
G
T
G
G
T
T
T
C
T
A
A
A
A
A
G
T
T
G
A
C
C
T
T
G
A
A
G
T
A
2850
G
A
G
A
A
T
G
G
A
A
T
G
G
T
G
G
A
T
T
T
C
A
G
G
G
G
T
T
G
G
G
T
A
G
A
T
G
T
T
G
A
T
C
A
C
G
A
G
A
G
2900
A
C
C
T
A
A
T
T
T
C
A
G
T
T
A
G
A
A
A
G
G
G
G
G
A
A
T
A
A
A
T
T
T
A
A
G
A
G
A
T
C
T
A
T
T
G
T
A
T
A
2950
A
C
A
T
A
A
T
G
A
C
T
A
T
A
G
T
T
A
G
T
A
G
C
A
A
T
G
T
G
T
T
G
T
G
T
T
C
T
T
G
A
A
A
T
T
G
C
A
A
A
3000
A
A
A
G
AAAAAT TACAGTAAAG GGGAACTTGG TAATTCATGA TTGAT
C
TGCT
3050 |
var(3046):[T:0.01]
ACCATAATTA TACCAACCTT CTTTTTATCA TTTGTCTATT TGGTTGTTTT
3100
GCATACTGAC AAGATTTTCT TTTCTTTTAG
T
T
G
G
T
C
G
A
A
T
T
G
T
C
T
T
A
G
A
A
3150 | Exon 2
V G R I V L E 35
T
T
G
T
T
T
G
C
A
G
A
T
A
T
C
G
T
A
C
C
C
A
A
A
A
C
T
G
C
G
G
A
A
A
A
T
T
T
T
C
G
T
G
C
A
C
T
G
T
G
3200 |
var(3190):[T:0.02]
L F A D I V P K T A E N F R A L C 52
T
A
C
A
G
G
A
G
A
A
A
A
A
G
G
C
A
T
T
G
G
A
C
A
C
A
C
G
A
C
T
G
G
G
A
A
A
C
C
T
C
T
C
C
A
T
T
T
C
A
3250
T G E K G I G H T T G K P L H F 68
A
A
G
G
A
T
G
C
C
C
T
T
T
T
C
A
T
C
G
A
A
GTATGTGTA AATTTTCTTA ATCTTGTTAT
3300
K G C P F H R 75
TCTTCATACA GACAAGTCCT
G
TTCTTTAGG A
T
TTGGGGAA GAAAACACTA
3350 |
var(3321):[C:0.01]
|
var(3332):[C:0.03]
AGTAGGAAGT GAAGCTTAAA AAGTACTATT AGCGTCCATG TCTGAGGCAG
3400
TAACGCAGTT TCGTAAAGGT TAGGCTGTGC GAGGTGGAAT TACTTATGGT
3450
ACTAAGGTTT ATCTATAGAG AAATGGACTC CCCTAGCTTT ACCCATCCTC
3500
TCATTCTCCT TCACTCTAAG ATGATTTGAT TGAGAAAGGA AGGCCGTAGT
3550
CAACCAACCT TAGGTAGCTT CATTGCCTGG TGACAAAAAA GTTATGCATA
3600
G
A
C
C
G
G
G
C
G
C
A
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
T
T
G
G
G
A
G
G
C
T
G
A
3650 |
REPEAT
G
G
C
G
G
G
T
G
A
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
T
T
G
G
C
T
A
A
C
G
C
G
G
3700 |
var(3659):[G:0.01]
|
var(3668):[A:0.08]
|
var(3696):[T:0.03]
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
A
A
G
C
C
G
G
G
T
G
T
G
G
T
G
G
T
3750 |
var(3746):[A:0.05]
|
var(3747):[C:0.04]
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
T
A
G
A
A
T
G
G
C
A
T
3800 |
var(3790):[G:0.01]
G
A
A
C
T
C
A
G
A
A
G
G
T
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
C
T
C
3850
C
A
T
C
C
T
G
G
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
C
C
T
C
A
A
A
C
A
A
A
C
A
A
A
C
A
A
A
C
A
A
A
3900
C
A
A
A
C
A
A
A
C
A
A
A
A
A
A
A
TGCA TAATTTTTGG GCCTGAGTGC TTGGGAAGGC
3950
A
GCAGATTTG AAGATTCAGT GTTTTGGGCA CATGGGTGAT AGTGTGGTCA
4000 |
var(3951):[G:0.01]
AAATATGCCA TTTCATACTG CTTATTACAC TTTGTAATGA ATCATACTTT
4050
TGTTTAGTGA TAA
T
G
G
T
T
C
T
C
C
C
A
A
T
A
G
A
C
T
G
C
A
G
G
C
T
C
T
A
T
G
A
G
T
T
C
A
A
4100 |
REPEAT
G
A
A
C
T
G
T
A
T
G
T
T
T
T
C
A
C
C
A
T
T
T
T
G
T
T
T
T
T
G
G
C
A
T
C
T
A
A
T
A
C
A
G
T
T
A
T
T
G
A
4150
G
T
A
A
G
A
A
C
T
C
A
G
T
A
A
G
T
A
T
T
T
G
T
T
T
A
A
T
A
A
A
T
AGGCAAAT AAGCAATAAT
4200
CACAAGAGCA ACATTTTTTA AACGATTTAT TAAGAAAAAA TTAACTTTTT
4250
AAAAA
A
TATT TAAAATGTTT ACTTTCATGT TTAATAAAAA CTTGAAATAT
4300 |
var(4256):[:0.64]
GCTAATAAAC TA
T
A
T
G
C
A
G
A
A
A
A
T
A
T
T
T
A
A
C
A
T
A
G
C
A
A
G
T
G
T
G
A
G
A
C
T
G
C
4350 |
REPEAT
T
A
T
C
T
T
T
A
G
A
A
A
G
G
T
C
T
G
C
C
T
G
C
A
A
G
A
G
T
A
G
C
A
C
T
T
G
T
T
T
G
G
A
G
T
C
T
G
G
G
4400
A
A
C
T
T
G
A
C
A
C
T
T
G
T
A
C
C
A
T
T
T
C
C
T
A
A
A
T
A
G
T
A
A
T
G
G
T
G
A
T
T
T
A
C
T
A
T
G
C
C
4450 |
var(4410):[G:0.02]
T
A
G
C
C
T
A
T
T
T
G
T
A
C
A
A
A
C
A
T
G
A
A
T
G
T
G
T
G
C
T
C
T
C
T
T
T
T
G
G
G
G
A
G
T
C
T
G
G
A
4500
A
T
T
T
T
G
G
T
A
C
A
T
G
C
T
A
G
G
T
A
G
A
G
T
G
T
G
C
C
C
A
A
T
A
A
A
T
A
C
C
T
T
G
G
G
T
G
C
T
G
4550
A
G
T
C
T
C
T
A
A
T
T
G
G
C
T
C
T
C
C
T
G
G
G
C
A
G
A
A
A
T
A
C
T
G
T
G
T
A
C
A
T
G
T
T
G
C
T
G
C
A
4600 |
var(4551):[G:0.02]
T
T
T
T
T
G
T
T
G
C
T
G
G
G
G
G
A
A
G
T
G
T
G
T
G
T
T
C
T
G
T
A
G
C
A
C
T
T
C
A
T
G
G
G
A
C
G
G
A
G
4650 |
var(4618):[G:0.21]
|
var(4646):[T:0.01]
A
A
A
G
C
A
T
A
A
G
G
A
A
G
C
C
T
G
C
A
C
A
T
G
G
A
T
T
T
T
T
C
C
A
G
A
C
T
C
T
G
C
C
T
G
T
G
T
C
T
4700
T
T
C
C
C
G
T
C
A
T
C
T
C
G
C
T
G
T
G
T
A
T
C
C
T
T
A
C
C
A
C
T
G
T
G
A
T
C
C
A
A
C
C
A
C
A
T
A
C
T
4750
G
A
T
T
T
G
T
G
T
G
A
G
C
T
C
T
A
G
G
G
T
T
C
T
C
T
G
A
A
C
A
T
G
A
A
A
G
C
A
A
T
C
T
T
G
G
T
A
A
C
4800
C
T
T
T
G
A
C
A
C
A
AAGTGATATA TTTGCTGAAA ATTTTCCATT AGGGTAGAAC
4850
AAATCTACTG GGAATCATTG GTCTGT
A
T
T
C
A
G
C
A
G
A
C
A
T
T
A
T
T
G
A
G
T
A
A
C
4900 |
REPEAT
T
A
A
T
A
T
G
T
A
C
T
A
T
G
T
G
T
A
C
A
T
G
C
A
C
A
T
A
G
T
T
A
T
A
A
G
G
A
T
G
T
A
A
A
A
C
A
A
T
A
4950 |
var(4918):[G:0.01]
C
A
G
T
T
G
G
T
G
T
A
C
T
T
A
A
G
G
A
G
A
T
C
A
T
T
G
C
T
G
G
A
A
G
G
G
G
C
A
G
A
T
C
A
T
A
A
T
G
C
5000
C
A
T
A
T
G
T
T
A
T
G
T
A
G
G
C
A
G
A
G
T
C
A
A
G
A
T
A
C
T
A
T
G
G
G
A
G
A
A
A
A
A
T
T
A
G
G
A
C
A
5050
T
A
C
A
G
C
T
T
A
G
G
G
A
T
T
T
C
A
G
T
G
A
C
A
G
T
T
T
T
A
T
A
G
G
G
G
A
G
G
T
A
T
C
A
T
T
T
G
A
A
5100
C
C
G
A
T
T
T
T
C
T
G
A
A
T
G
T
T
A
G
C
A
G
G
G
A
T
C
A
G
G
C
A
G
T
G
A
A
AAT AGGTTGGATT
5150
CAGATGGTGA AAAGCCTGAA G
C
GTTTGGAG TTGCGGAGAC GGGTGGGGAG
5200 |
var(5172):[T:0.01]
G
GACAAACAG GAGAGAGACA TGACTAGAGT CATGCACTAC AAAGTTGTCT
5250 |
var(5201):[C:0.08]
TACGTACGTA TCCATTAGTA AGCATTGCTA AAGGCATCCA TGTCTCAGTC
5300
ACTAATAGCC ATTTTCCTTT TTTGTAG
T
T
A
T
T
A
A
G
A
A
A
T
T
T
A
T
G
A
T
T
C
A
G
5350 | Exon 3 |
var(5338):[G:0.04]
I I K K F M I Q 83
G
G
T
G
G
A
G
A
C
T
T
C
T
C
A
A
A
T
C
A
G
A
A
T
G
G
G
A
C
A
G
G
T
G
G
A
G
A
A
A
G
T
A
T
T
T
A
T
G
G
5400
G G D F S N Q N G T G G E S I Y G 100
T
G
A
A
A
A
A
T
T
T
G
A
A
G
A
T
G
A
A
A
A
T
T
T
C
C
A
T
T
A
C
A
A
G
GTAAAG TAGAGAAAAT
5450
E K F E D E N F H Y K 111
GCATGTTATT GCTGATAAAA AGATTGTTAT ATATCTGGAA TACTTGTTGG
5500
ATTAAGACAC CAAAAAATGT TTCAAGTGTG CTTAGATTCT CCATTTCTTG
5550
TAATAGGAAT CACTTTTGTA AATAATGGTT CTTTAATATG GAAAAGTTTT
5600
CATTCAGTAA TGATTAATTC AGCATTATTT CATTGTGATC CAGTTTTTAT
5650
ATGCTTCAGT TAAGCCAGTG AGTTTTTAAA TGCGACCAGC ATCTGGCAAA
5700
ATTGTTTCCA GGAAAAATGT TTCCATTGTT GGAAGGATGG TAACTTGTGC
5750
ATCCTTATCC TTGAATTTGA AGAGCAACAA AACCATCACT AATATCCAGG
5800
ATGTCAGGGG ATTTGCACAC TAGCAGATAT AGTTAAATGT C
C
AAGC
T
CCT
5850 |
var(5842):[G:0.01]
|
var(5847):[C:0.03]
AAAGGACTTC AGTGGTGCCT GTGCCTTCTT GTCTTCGTTG TCCCAAGATG
5900
TAATTG
G
G
GT ATATTGCATC ATTCAAGTTA TAAGAATGGA CATGTAAGTA
5950 |
var(5907):[A:0.03]
|
var(5908):[A:0.01]
CAAAAGTAAA GTGATATTTT TGGAAATAAG GAATATGAGC AAGGGTATTA
6000
GGATAATTTG AAAAAATGTC GTCAGTCTTC CAGTCAGTGT TTATTGAGCC
6050
ACTATCA
C
TG GCACCAAAGG GTTTATAAAA ATGAAAGGCC TTGATGACAA
6100 |
var(6058):[G:0.01]
GGAATTTATA ATCCTACCTC AGAGACAAGA TTAAGATACA TGGGA
C
TACT
6150 |
var(6146):[T:0.01]
GGAGAATAAT AGTATATAAA TAAATGCTAA ATTGATTGAA TATCCTTGCT
6200
TGTATAACAT TGCTAATACT GTCTATATAC TGCAGGAGAA AGATGTGATT
6250
TATGCAGTCT GAATTATTAT GGAAGTCATT GAGGAGGAAT GGCTACTTGG
6300
GCTGTGCAGA CTGGGTCTTG CAAGG
C
GGCA ACATGTCTGA GATTTGGTTA
6350 |
var(6326):[T:0.01]
GGCAGGAACT GTAGTATTGA TGCAGAATTT AAAAAGGGAC GTCGGTGAGG
6400
AAAGACAAAG GCAAGAGAC
G
TTGAGGAAAT AAAGTTCTAG TTACTGTTGT
6450 |
var(6420):[A:0.02]
ACCAAAGGAA GCTACCAGAA GGATGAAAAC TAAAGGTGAT GTGATGATCA
6500
CATTGACATA GAGAAAAGGG GCCTATAGAC AAGACACATG
A
TTCTTGCTT
6550 |
var(6541):[G:0.03]
TCTATAAACG TGGTGGCCTT AAAATCTGAA TTTGATTTAG ACTGAGGGGA
6600
GTAAAAGGCA TTTTGGTGGG GTGGGGGGTG TCATGAAACA TTATATAACA
6650
TGAGAGTTAC GGTGCATGCA CCAACAAGGA ATACATTTAG AAAGCCTAGG
6700
AGATAAAGTG AAAAGGTTAA GAAAT
T
GGGT TTCATAGATC CTTTGACAGG
6750 |
var(6726):[G:0.01]
ATTATGCCAA GGTAGAATTT TGATTTCAAG ATGTA
T
GCAG CAGTTTCTT
T
6800 |
var(6786):[C:0.03]
|
var(6800):[C:0.23]
TGAGCACTCT CCGAAGAGGT GATTCATCTG GGATGAAAAC CTAATCCAAA
6850
TCCTGTATGA TTTGGATTCT TTTGAGATTA GGAAAGTACC AAACTGAATG
6900
TCTTGGGTAA ATTCAGTATC CCATTATTGT TCCAGTTTAT TGA
T
GTTTTG
6950 |
var(6944):[A:0.01]
TAAAGGAAGA CTTATACTGT AGGCATATTT ATGAATTTGG AAGACCGTTC
7000
AGGTCTTCCC AGAAAAAAAG AGCATTCATC ATAAAGAGGG CAAAATATAT
7050
TACAAGAGTT TCATAATGCT GCATCTTCAT TTTAAAGGTG AAGTGTAAGT
7100
ATTTTCTCAT GGCCAATTTA GAAATAACCC TCCCCCCGAC TATTGTTTCT
7150
GTTACCTATT TACTTTGATA AGGTTTTTTA AAGTTTAAAG TGATTAAGTG
7200
CCCCATGTTT TGTGAATTAA AGGTTGCAGT TTATAAAAAA ATAAAAAGTA
7250
ATTAAAAAAT TTTATAAGTG A
A
AAGTAAAA AAAAGTAGTT TGATCTAAAT
7300 |
var(7272):[G:0.03]
GGTAGTATAG TGCACCCCAG TTTTATGTTC AGTAAAAGAA CAGTTCAGAC
7350
TAACACACAA TTCAGAAAAG AACACATCTA ACCTTGGTTT TCTTTTAATT
7400
TTTATTTCTA CAG
C
A
T
G
A
T
C
G
G
G
A
G
G
G
T
T
T
A
C
T
G
A
G
C
A
T
G
G
C
A
A
A
T
G
C
A
G
7450 | Exon 4
H D R E G L L S M A N A 123
G
C
C
G
C
A
A
C
A
C
A
A
A
C
G
G
T
T
C
T
C
A
G
T
T
T
T
T
T
A
T
C
A
C
A
A
C
A
G
T
T
C
C
A
A
C
T
C
C
T
7500
G R N T N G S Q F F I T T V P T P 140
C
A
T
T
T
G
G
A
T
G
G
G
A
A
A
C
A
T
G
T
G
G
T
G
T
T
T
G
G
C
C
A
A
G
T
A
A
T
T
A
A
A
G
G
A
A
T
A
G
G
7550
H L D G K H V V F G Q V I K G I G 157
A
G
T
G
G
C
A
A
G
G
A
T
A
T
T
G
G
A
A
A
A
T
G
T
G
G
A
A
G
T
G
A
A
A
G
G
T
G
A
A
A
A
A
C
C
T
G
C
T
A
7600
V A R I L E N V E V K G E K P A 173
A
A
GTAAGTAA AAAGTTACAG TGAAATACAC TTATTATCTT AGTTGCTATC
7650
K 174
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
C
G
A
T
C
T
G
T
T
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
G
G
7700 |
REPEAT
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
T
G
T
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
T
A
T
T
C
T
C
C
T
G
C
C
7750 |
var(7729):[G:0.03]
T
C
A
G
C
C
T
T
C
T
G
A
G
T
A
G
C
A
G
G
G
A
T
T
A
C
A
G
G
C
G
C
G
C
G
C
T
A
C
A
A
C
A
C
C
C
G
G
C
T
7800 |
var(7771):[T:0.23]
|
var(7784):[T:0.02]
A
A
T
T
T
T
T
T
C
T
G
T
A
T
T
T
T
T
A
A
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
7850
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
C
G
C
C
C
A
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
7900 |
var(7879):[T:0.01]
T
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
C
A
C
C
C
A
G
C
C
T
G
T
T
A
G
T
T
G
C
T
A
T
C
7950 |
NOT SCANNED
T
T
A
A
A
G
A
A
A
T
A
T
A
A
G
T
A
A
A
A
G
G
A
T
C
A
G
G
T
G
A
T
T
A
T
T
A
G
C
T
G
G
A
A
A
A
A
T
G
T
8000
T
A
T
A
A
T
A
A
T
T
T
T
G
G
G
T
A
T
A
G
G
A
G
C
C
A
G
G
A
T
C
T
G
C
C
A
C
T
T
T
T
T
T
T
T
T
T
T
T
T
8050
T
T
T
T
A
A
C
T
T
T
T
C
T
A
C
A
A
T
G
G
G
A
A
A
G
A
C
A
A
T
T
A
G
G
G
T
A
G
T
T
T
T
A
A
A
G
G
A
G
A
8100
T
T
T
T
T
A
T
T
A
T
T
T
C
A
A
C
T
T
T
C
A
T
T
T
G
G
T
G
A
T
C
T
T
T
G
C
T
A
G
T
T
T
A
C
G
T
T
A
A
G
8150
T
C
T
T
C
C
T
A
T
A
C
C
T
G
C
A
A
A
A
C
T
G
T
T
C
A
G
T
T
G
G
T
A
T
G
T
A
T
A
G
T
A
G
T
A
C
A
T
A
G
8200
T
G
G
A
A
T
G
A
G
G
A
T
A
A
T
A
A
G
C
C
C
A
A
A
A
T
C
T
T
G
T
C
T
G
G
A
T
T
G
T
A
G
C
A
T
T
A
A
C
T
8250 |
REPEAT
A
G
A
G
G
C
T
T
G
G
C
C
T
T
G
A
C
T
T
T
G
T
T
A
C
T
T
A
A
C
T
T
T
T
C
C
A
C
A
C
G
T
G
T
T
T
T
C
T
C
8300
C
T
G
T
C
T
A
A
A
T
T
A
C
T
T
A
T
G
G
G
T
T
T
A
G
A
C
T
A
G
A
T
T
A
T
C
T
C
T
G
A
A
G
A
C
C
C
T
T
G
8350
TGTACTTAAT GTCTGTGAAT CAAAATGACC TTAATATT
G
G
C
T
G
G
G
C
A
T
G
G
8400 |
REPEAT
T
A
G
C
T
C
A
T
G
C
T
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
T
G
G
G
A
G
G
A
T
C
8450
A
C
T
T
G
A
G
A
C
C
A
G
G
A
G
T
T
G
G
A
A
A
C
C
A
G
C
T
T
T
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
T
G
C
T
G
8500
T
C
T
C
T
A
T
T
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
AA
A
GAAA AACCCCTAAA CGACCATAAT
8550 |
var(8526):[:0.07]
ACTACCCAGC CTAAGTGACA GGGTTGTGAG TGGGAGTTGG AAGCTCAGTT
8600
ACTTGTAGGA GGTAGGCTG
T
CACTCA
G
TGT ATGACAAGAA TAGTAGTAAA
8650 |
var(8620):[A:0.03]
|
var(8627):[A:0.03]
CC
G
GAAGCTC ATGCCCCACC TAATGCCACT TACATAGACA ATGATAAAAT
8700 |
var(8653):[A:0.16]
TGCCAACTTA TTCTGTGTTT ATTGAGCTCC TGAATAGCAA TAAAATGCTT
8750
ATGTAAATAC TAACATTGTC GTATTAGTTG GAATGTATAA AAACAGCATT
8800
ATAGTACATA AATGAGCCTT CTCACATAAA TCTGTGAATT GGACAGTGCT
8850
GCACATGACT TCAGCTGTAT AGCTTTTATC TCTCAT
T
ATT A
A
CGATAGTG
8900 |
var(8887):[A:0.01]
|
var(8892):[:0.99]
CACTTCTACA ATTTAGGGTT ATTTTTACAG
T
T
G
T
G
C
G
T
T
A
T
T
G
C
A
G
A
A
T
G
8950 | Exon 5
L C V I A E C 181
T
G
G
A
G
A
A
T
T
G
A
A
G
G
A
A
G
G
A
G
A
T
G
A
C
G
G
G
G
G
A
A
T
A
T
T
C
C
C
A
A
A
A
G
A
T
G
G
C
T
9000
G E L K E G D D G G I F P K D G 197
C
T
G
G
C
G
A
C
A
G
T
C
A
T
C
C
A
G
A
T
T
T
C
C
C
T
G
A
G
G
A
T
G
C
G
G
A
T
A
T
A
G
A
T
T
T
A
A
A
A
9050
S G D S H P D F P E D A D I D L K 214
G
A
T
GTGAGTA CTTTCAGATT AGTCAAACTT TAATTAATTT AGTAAGTGAA
9100
D 215
AATATTTAGT ACTAAAAGTT TGAGCTTTTG TTTCAGTCTC TCATATGATA
9150
GAATCTAGCA TTAAACCACA TTACTTACTA AAATCCAACA TATTTGTATT
9200
TTTTTATACA G
G
T
A
G
A
T
A
A
A
A
T
T
T
T
A
T
T
A
A
T
A
A
C
A
G
A
A
G
A
C
T
T
A
A
A
A
A
A
C
9250 | Exon 6
V D K I L L I T E D L K N 228
A
T
T
G
G
A
A
A
T
A
C
T
T
T
T
T
T
C
A
A
A
T
C
C
C
A
G
A
A
C
T
G
G
G
A
G
A
T
G
G
C
T
A
T
T
A
A
A
A
A
9300 |
var(9280):[T:0.02]
I G N T F F K S Q N W E M A I K K 245
A
T
A
T
G
C
A
G
A
A
G
T
T
T
T
A
A
G
GT AATATTATTT CTAACAAATT ATTTTTAAGA
9350
Y A E V L R 251
AATTATAAAT TGAATTATAA ACTAAAATTA AGAATTGCTC ATTATATTTT
9400
TGCA
A
ATTAC TTGTGGAATA ACCAGGTGTG TTGAAATAGT TGCATTTCCT
9450 |
var(9405):[G:0.01]
TTTTTTTCCC CTCAGCTTGT TTTGAGAAAT TTCAAAAGAC AGAAGTTGAA
9500
CGAGTAGTAC ATAATTACTC ATAAGTTTTA CTTACATTCA CCAATTTTTA
9550
ACTTTTGCTG TTTACG
T
T
T
T
T
A
C
A
G
A
A
C
T
A
T
T
T
T
G
A
T
A
G
G
A
A
G
T
T
G
T
T
G
A
9600 |
REPEAT
T
A
C
T
G
T
G
A
T
A
C
T
T
T
A
C
C
C
T
A
A
G
T
A
T
T
T
C
A
G
C
A
C
G
T
A
T
T
T
C
C
T
A
A
G
A
A
A
C
A
9650
A
A
G
A
C
A
T
T
C
T
G
C
A
T
A
A
G
T
T
C
A
A
T
A
C
C
G
T
T
A
A
A
A
C
A
C
C
C
C
A
A
A
G
T
A
A
T
A
T
T
9700
G
A
T
A
G
A
T
A
A
T
A
T
C
A
A
T
C
C
A
T
A
T
T
T
A
G
G
C
T
G
G
G
C
A
T
A
G
T
G
G
C
T
C
A
T
G
C
C
T
A
9750 |
REPEAT
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
C
T
G
G
G
C
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
G
G
G
9800
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
T
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
9850 |
var(9841):[T:0.03]
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
T
G
G
T
G
G
C
G
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
9900
G
G
A
G
G
C
T
G
A
G
G
C
A
C
A
A
G
A
A
T
T
A
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
C
9950
A
A
G
C
C
G
A
G
A
T
T
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
T
G
A
G
A
T
T
C
10000 |
var(9956):[A:0.01]
|
var(9990):[T:0.02]
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
T
A
A
T
C
C
A
T
A
T
T
C
C
A
A
C
T
T
C
C
C
C
A
G
T
T
G
10050 |
NOT SCANNED
|
REPEAT
T
T
T
C
A
A
T
T
T
C
T
T
A
G
A
A
A
A
A
T
C
A
A
G
G
G
T
C
C
A
A
A
C
T
A
A
G
A
T
T
A
T
G
T
G
T
T
A
T
A
10100
T
T
T
A
G
T
G
G
T
A
G
T
A
T
C
T
C
T
T
A
C
G
T
T
T
C
C
T
A
C
C
T
C
C
C
C
T
G
G
T
T
T
T
T
T
A
T
T
C
A
10150
T
T
T
G
C
A
T
T
T
T
T
G
T
G
G
A
G
T
C
C
A
A
G
T
C
A
G
T
T
G
T
T
T
T
T
A
T
A
G
A
C
T
T
C
C
A
T
C
T
G
10200 |
var(10194):[T:0.05]
T
A
T
G
T
G
T
T
T
G
T
T
T
C
C
T
T
A
A
G
A
T
T
A
G
T
T
T
G
A
G
G
T
G
A
A
A
T
A
T
T
T
T
G
G
C
A
A
G
A
10250
A
G
A
C
TTAGGT GTTGTTTTGT ATTACCTATG ATATCACATC CTGAAGACAC
10300
ATTTCGCTTT GGCCTGTTTG AGTTCACACA CATGGTTAAA GTAGTGTCAG
10350
CCACAAGCAT TTGTTAGTC
T
G
A
G
G
T
G
G
T
A
T
C
G
T
G
A
A
A
T
T
G
T
A
T
G
A
A
T
T
T
C
10400 |
REPEAT
T
A
G
T
C
C
C
C
A
A
C
A
A
C
T
T
T
T
C
A
C
A
C
A
G
T
G
G
A
T
C
T
T
A
G
C
A
T
C
A
T
T
G
A
A
A
A
T
C
C
10450
A
T
G
C
C
T
G
A
A
T
C
T
G
T
T
A
T
ACT GAACTTCTAA GTTTATCATC GTACAGTTAT
10500
TAACTAGCAT TCTTCTGTTT GC
G
AGAGCCT CCCGCATATT TTTTAAGTAT
10550 |
var(10523):[A:0.38]
CACTATAGAC CTGTGGATAT T
T
T
T
C
T
T
T
T
C
T
T
T
T
T
T
T
T
T
C
C
T
T
T
T
A
T
A
G
A
10600 |
REPEAT
A
A
C
A
A
G
G
C
C
T
C
C
T
T
T
A
T
A
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
G
G
A
A
C
T
T
T
T
G
G
G
C
C
C
A
10650
A
G
C
A
A
T
C
C
T
C
C
C
T
C
C
T
C
A
C
C
T
T
C
C
C
A
A
G
T
A
G
C
A
G
G
G
A
C
T
A
G
A
G
G
ATATCT
10700
TATGGGTAGT TTTCAATTCC GTTTGTTAGT ACG
C
T
A
T
T
A
T
T
G
T
C
A
T
T
C
T
T
10750 |
REPEAT
T
T
T
C
A
T
G
C
C
C
A
A
A
G
G
G
T
T
C
C
A
A
A
T
T
T
G
T
T
C
A
G
T
G
G
A
A
G
G
C
C
C
C
T
T
T
C
C
T
T
10800
T
G
G
C
A
T
G
T
T
C
C
T
A
T
T
A
G
T
C
T
G
C
G
A
G
C
A
C
T
T
G
C
T
T
G
C
T
T
T
T
T
T
G
C
A
C
A
A
G
A
10850 |
var(10838):[:0.74]
T
G
T
T
C
T
A
A
G
C
T
C
A
T
C
T
T
G
C
C
T
T
A
C
T
T
T
C
A
G
A
T
C
T
G
A
T
A
T
G
G
C
A
G
T
T
T
C
T
C
10900 |
var(10868):[A:0.38]
|
var(10880):[C:0.08]
C
A
A
G
G
A
C
C
T
C
T
G
A
T
T
T
C
T
T
T
T
A
G
A
G
A
A
A
G
A
A
A
A
C
T
T
T
A
G
A
A
A
C
C
A
A
A
T
T
C
10950
T
G
G
G
G
G
C
C
A
G
G
T
G
T
G
C
T
C
A
G TTTTGGGGCC CTTTTCAGGG ACAATGCAAA
11000
ATCAACACAA TAGAGTTCTC CTTCATCTTT CCTCTACTGA ATTCCCTTCT
11050
CCTATTATGA GAATCCTGGT TCCAAACATA ATTATGTTGG AAAGTACATA
11100
GTGGGGACCT GAGTTTTAAA AATAGAAAAG TGTTACTAGT GCATAATTAG
11150
ATTTGGGAAT TGCTCTTAAA TTGGCCTCTT TGAACACTTT GGGGAACAAA
11200
AACA
A
TTTTT TTTAAGCCTT CTTAAAAATT TTAAAAAGTG TGATCATTAA
11250 |
var(11205):[T:0.01]
GATTATTAAT AGCATTTTTA GAGCTTTTTA
A
TATCAGAAA TGACATAACA
11300 |
var(11281):[:0.99]
CTTCTGGACA TAGAGAAGAG TAATTCCTGT TTATGTGGTC TTTCATACTG
11350
CTTTTATTAA TGCATTCTGC AG
A
T
A
C
G
T
G
G
A
C
A
G
T
T
C
A
A
A
G
G
C
T
G
T
T
A
T
T
11400 | Exon 7
Y V D S S K A V I 260
G
A
G
A
C
A
G
C
A
G
A
T
A
G
A
G
C
C
A
A
G
C
T
G
C
A
A
C
C
T
A
T
A
G
C
T
T
T
A
A
G
C
T
G
T
G
T
A
C
T
11450
E T A D R A K L Q P I A L S C V L 277
G
A
A
T
A
T
T
G
G
T
G
C
T
T
G
T
A
A
A
C
T
G
A
A
G
A
T
G
T
C
A
A
A
T
T
G
G
C
A
G
G
G
A
G
C
A
A
T
T
G
11500
N I G A C K L K M S N W Q G A I 293
A
C
A
G
T
T
G
T
T
T
A
G
A
G
GTAAGT
C
T
GTTTGATT TTGAACTTTT TGAATAAGTT
11550 |
var(11521):[:0.01]
D S C L E 298
GGATTAAGAC TTAGTTTGAA TAGTAGCAAC TTTTATATAC ATTAATATAT
11600
CTTATTGCAT AGGACCTAAT GAGGCTTAAG AAAACATTTT GTTTCTAAAT
11650
ATTTTGGACC CTCAGTTCTT TCTCTACATT CATTTTGCTT ATAACTCTGT
11700
GTCACTTAAC AGCTATGAAG ATCCTTGCCT TTTTTTC
T
CA AAGCACATAT
11750 |
var(11738):[:0.02]
ATCAGCTCAT GTATTCACTT AAGAGCACCT ATTGTGTGTT AGGCATTAGA
11800
AGACAAAGTC AGAAATGATT AAGATGTGGG TTATGGAGTC AGTCAGGCAT
11850
GGC
T
T
T
T
T
T
C
T
T
C
T
T
C
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
T
A
C
T
C
T
G
T
T
G
C
C
11900 |
REPEAT
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
A
A
T
C
T
C
G
G
C
T
T
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
11950
C
G
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
T
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
12000
G
G
C
A
T
G
T
G
C
C
A
C
C
A
T
G
C
C
C
A
G
A
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
G
G
12050
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
T
C
T
C
A
G
G
T
G
A
T
C
12100
C
A
C
C
C
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
T
12150 |
NOT SCANNED
G
A
A
G
T
A
G
T
T
A
T
A
G
A
G
A
G
T
T
A
T
A
T
A
A
C
A
C
A
A
T
G
T
A
A
G
G
C
A
T
T
T
A
G
T
G
T
A
G
T
12200 |
REPEAT
G
C
C
T
G
G
C
A
C
A
T
T
T
T
A
A
G
C
A
C
C
T
A
A
C
A
G
A
G
A
C
G
A
G
T
T
A
T
T
T
T
AATTAAAAG
12250
ATCCATACCC TCAAGAAGCT TAATAAGTGA TTCAGGATAG GAGGGGGTCA
12300
GTTTCAATTT AGGTTCATCA GGACTTGTGT ATGGAGAATG GGTTCTATTG
12350
GAACAGGTCA TTTATCTTTA GGAGGTCATC CAGGTATGCT AACTGATAAA
12400
GCTAGAAAGG TGGCAGTTTT ACCTTCCTCA AATAGAGCAA TTATGACTCT
12450
CTTCCCTGTT GTATAGTTTG AAAAGTTTTC CAAATGAAAC TTTAAGAATT
12500
TTACATATTA AGCCAGGCAC CTAGACTAGC TATGCTCAGA GCAAGTAGAA
12550
CTAAAATGAG ATCCTAATTT TGTAGGGTAG ATGGAATAAG GGATAGGAAT
12600
ATATTTAGAA GGGATCATAC AACAGAGGAA AAAACT
T
ATC AAAAGAAAAG
12650 |
var(12637):[C:0.01]
ATGGGTCTTC ACTCTGGGTT TTTTTTTGTT
C
T
C
T
G
T
C
A
C
C
C
A
T
G
C
T
G
G
A
G
12700 |
REPEAT
T
G
C
A
G
T
G
A
T
G
C
A
A
T
C
A
A
A
G
C
T
C
A
C
T
G
C
A
G
C
C
T
C
A
A
C
C
T
C
C
T
G
G
G
C
T
C
G
G
G
12750 |
var(12711):[T:0.03]
T
G
A
T
C
C
T
C
C
T
A
C
C
T
C
A
G
C
C
T
C
C
T
A
A
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
C
C
T
T
G
C
C
12800
A
C
C
A
T
A
C
C
C
A
G
C
T
G
A
T
T
T
T
T
A
A
A
T
T
T
T
T
T
G
T
A
G
A
G
A
T
G
G
G
T
T
T
T
T
G
A
C
G
T
12850 |
var(12849):[A:0.11]
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
T
T
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
T
G
T
C
C
A
C
C
C
G
C
C
T
12900
T
G
G
C
C
T
C
A
C
A
A
A
G
T
G
C
T
G
G
T
A
T
T
A
T
A
G
T
T
A
A
G
A
G
C
C
T
C
T
C
T
G
C
C
C
A
G
C
C
T
12950
CGATCTCTTT TTGACCTGTG AGGCAGGTAA AATCTGAGTA TTGGCCATTA
13000
AAAGATGTTA CATAAACAAA AGATAATTTT AAAATGTTTG TTCTAGGGGA
13050
GAGACCTGAT GCATAAAGTC TCTTAGGTTA AAAGACCTGT TGTAGGTAA
G
13100 |
var(13100):[A:0.03]
AACCTA
G
G
T
T
G
G
G
T
A
T
G
G
T
G
G
T
T
C
A
T
G
C
C
T
G
T
A
A
T
T
C
C
A
G
C
A
C
T
T
A
G
G
G
A
13150 |
REPEAT
G
G
C
C
A
C
G
G
C
G
G
C
G
G
G
C
A
G
A
T
C
G
C
T
T
A
A
T
T
C
C
A
G
G
A
G
T
T
T
G
A
A
A
C
C
A
G
C
C
T
13200 |
var(13159):[T:0.01]
|
var(13171):[T:0.01]
G
G
G
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
T
C
T
G
G
13250 |
var(13226):[A:0.01]
T
G
T
G
G
T
G
G
C
A
C
A
T
A
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
A
G
G
C
T
G
A
G
G
T
G
G
G
A
G
13300
G
A
G
C
A
C
T
T
G
A
G
C
C
T
G
G
G
G
G
G
T
T
G
A
G
G
C
A
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
C
A
G
G
C
C
A
13350
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
C
A
C
A
G
A
G
T
G
A
G
A
C
C
T
T
G
T
C
T
T
A
A
A
A
A
A
A
C
A
A
A
13400
A
A
A
C
A
A
A
A
A
C TTAAGAGTTT ATAACTTAAG AGTTATTAAG TTATTAATGT
13450
TCCTAAAAAA CTTA
T
AATTC AAGTAAAAAG TGTATACAAA T
G
TTTCTTCA
13500 |
var(13465):[C:0.02]
|
var(13492):[T:0.24]
AAATGATTTT ATCTTAAAAG TGTTAGTTCA GGCCCATTCG GGAGATTGAA
13550
ACCACAGTGG GG
A
G
C
A
T
A
T
T
G
G
A
A
A
C
T
A
G
A
G
A
A
A
T
G
T
C
T
T
T
C
T
C
C
T
C
C
A
T
13600 |
REPEAT
G
T
C
C
A
T
T
C
A
G
T
G
C
C
C
T
C
T
G
C
T
G
A
C
A
A
A
A
C
T
T
A
G
T
G
C
C
C
A
C
T
G
G
C
A
G
A
G
G
A
13650
G
A
G
C
T
A
T
T
T
G
C
A
T
G
T
T
T
C
A
G
C
T
C
C
A
T
T
T
T
C
A
C
A
G
A
G
C
A
G
T
G
A
A
G
G
A
T
G
G
G
13700
T
T
T
G
G
A
G
T
T
G
A
T
A
G
G
C
A
A
T
G
A
A
T
T
G
A
A
A
T
C
T
G
G
C
A
T
A
TAA GCTTAATACT
13750
TTGATATAAA TACTAGCTTT ATACTTTTTT GTAG
G
C
T
C
T
T
G
A
A
C
T
A
G
A
C
C
13800 | Exon 8 |
var(13794):[A:0.27]
A L E L D 303
C
A
T
C
A
A
A
T
A
C
C
A
A
A
G
C
A
T
T
G
T
A
C
C
G
C
A
G
A
G
C
T
C
A
A
G
G
A
T
G
G
C
A
A
G
G
A
T
T
A
13850
P S N T K A L Y R R A Q G W Q G L 320
A
A
A
G
A
A
T
A
T
G
A
T
C
A
A
G
C
A
T
T
G
GTAAATTTT GTTCCAAATG TTTAATTTTT
13900
K E Y D Q A L 327
TAAAATAGAC AACTACCTTT ATAAATCATA CACCTAACTT AAATGTTTTT
13950
TTCCAATTAA AG
G
C
T
G
A
T
C
T
T
A
A
G
A
A
A
G
C
T
C
A
G
G
G
G
A
T
A
G
C
A
C
C
A
G
A
A
G
A
14000 | Exon 9 |
var(13985):[A:0.02]
A D L K K A Q G I A P E D 340
T
A
A
A
G
GTAAG TTGGCAGCTT TTGTAGTGAA AGTTAATTTT GTTATTTAAA
14050
K 341
TACTTATCCT CAGGAACCAT TGTTCACTTT G
C
CAGATTTT AGATG
T
T
T
G
T
14100 |
var(14082):[A:0.01]
|
REPEAT
T
C
A
A
C
A
G
A
C
A
C
T
A
C
A
G
A
A
T
G
C
C
T
G
C
T
G
T
T
G
G
G
C
C
A
G
G
C
A
T
T
A
T
C
A
T
A
T
A
G
14150
C
A
A
T
G
A
A
C
A
A
G
A
C
A
G
T
C
A
A
A
G
T
C
C
C
T
G
C
C
C
T
C
A
A
A
G
A
G
C
T
T
A
C
A
T
T
C
T
A
C
14200
TCCCATTCAA GAATATAGTA GTTTTTCACG TTATTTATTC TTCAAGTTAT
14250
CATCTCTGTA GTTTTTTATA TGTCTAAATA CTGTTTGTCT TATGGT
A
TCC
14300 |
var(14297):[G:0.01]
TTTGAGACTG TGTTCCTATT CTGGTTAGTC TAGTCGAGAG CTCAGCATTG
14350
TAAGACACAG TATTCATGGT AAATTTAACA TTTGGGACCA TTCAAGTTGA
14400
ATGTGGCTAT AACCTTAGTA TTGATGTACT GGTTATATGT TTTAGGAAAC
14450
TATGACAAAA ATAAGCTTGT TTTTCAAATA AACCAACTAT GAATAGTGAC
14500
ACTAGATCTG GGTATTACA
A
AATGTCTTTG GTCTCTTATT ACTAAAATGA
14550 |
var(14520):[G:0.01]
AACAAGGGAA GCAATTACTG TTCTCTAATG TAGAGGCAGA AGGCAAATCT
14600
TGATGTACTT GAGTTCTCTC AGTTGACATC CTCTAAAATT ACGTTTCATT
14650
TCTGTGTTTG TGTGATTGCT CAGATTTTCT GTTACTAGGG CTTAGTTACT
14700
TTGTAGAGAA GTTTTTTCAA GGGGTAGTTA ACATTAAAAT AGTTTGTTAG
14750
TCACCATAAT TTTT
T
GGATA TTTTGAGAAA TAACTCACAT TGCATATTTA
14800 |
var(14765):[:0.01]
TTTTACAG
C
T
A
T
C
C
A
G
G
C
A
G
A
A
T
T
G
C
T
G
A
A
A
G
T
C
A
A
A
C
A
A
A
A
G
A
T
A
A
A
G
G
14850 | Exon 10
A I Q A E L L K V K Q K I K 355
C
A
C
A
G
A
A
A
G
A
T
A
A
A
G
A
G
A
A
G
G
C
A
G
T
A
T
A
T
G
C
A
A
A
A
A
T
G
T
T
T
G
C
T
T
A
G
A
A
A
14900 |
UTR
A Q K D K E K A V Y A K M F A 370
G
G
A
T
T
C
A
G
T
T
T
T
G
C
T
T
A
T
T
G
T
G
T
G
T
T
G
A
T
T
G
T
A
T
A
A
A
T
G
C
A
A
T
A
A
G
A
A
A
A
14950
T
G
T
A
A
A
G
G
T
T
T
T
T
G
T
C
T
A
T
G
A
A
T
A
T
G
A
T
C
C
C
T
A
A
T
G
T
G
T
T
T
C
T
T
T
T
G
A
C
A
15000 |
var(14968):[G:0.24]
C
C
T
T
A
G
T
T
C
C
T
T
A
C
T
G
T
T
T
A
C
A
G
T
T
T
A
G
G
A
G
T
A
C
T
G
A
T
A
G
G
G
G
T
T
C
A
T
G
C
15050
T
T
A
A
T
A
A
A
C
A
T
G
T
C
A
C
A
A
T
A
C
A
G
T
A
A
G
T
A
A
A
G
T
G
G
T
T
T
T
G
T
T
T
G
T
T
T
C
T
T
15100 |
REPEAT
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
G
G
T
G
G
C
G
C
A
A
T
C
15150 |
var(15144):[T:0.01]
T
C
G
G
C
T
C
A
C
T
G
C
A
T
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
15200
A
G
C
T
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
C
G
T
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
15250 |
var(15250):[C:0.02]
T
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
A
C
C
A
T
A
T
T
G
G
T
C
A
C
G
T
C
A
C
G
15300
T
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
T
G
T
G
A
T
C
C
A
C
C
C
C
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
15350
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
T
G
C
C
C
G
G
C
C
A
A
G
T
A
A
A
A
T
G
T
T
T
15400
T
T
T
A
A
A
A
T
G
G
T
T
A
T
G
T
G
C
A
T
T
A
T
T
C
A
T
A
A
A
A
A
A
T
A
A
T
G
G
T
G
T
C
C
A
G
T
C
T
T
15450
T
T
T
A
A
A
C
T
T
G
T
A
A
A
G
A
C
A
C
A
T
C
T
T
A
T
T
G
A
A
T
A
A
A
G
A
G
A
T
G
A
G
A
G
C
TTAAG
15500
TTTGTATATT GTTTCCTTCG ATTCTTTGAT GTATCCATGG TGGATGATGC
15550
TAGGTTTTCA TACTTATAGA TAATACACAC ACACACACAC ACACACACAC
15600
ACACACACAC ACAAACTTGT T
C
A
G
G
G
A
T
G
G
G
C
A
T
A
C
T
T
C
T
T
C
T
G
C
A
A
G
G
G
15650 |
REPEAT
C
C
A
G
A
T
C
A
T
A
A
A
G
T
T
T
T
T
A
G
G
C
T
T
T
G
T
A
G
A
C
C
A
T
G
T
A
A
T
G
T
C
A
C
A
C
C
C
A
C
15700
T
C
A
C
C
T
G
C
A
C
A
G
T
T
G
T
A
A
T
T
C
A
A
A
A
T
T
A
A
T
T
A
G
C
C
A
T
A
G
A
C
A
A
T
G
T
G
T
A
A
15750 |
var(15704):[A:0.01]
|
var(15728):[:0.99]
C
C
A
A
T
G
G
G
T
A
T
G
G
C
T
G
T
G
T
T
T
C
A
A
T
A
A
A
A
C
T
T
T
A
GTCTAG AATATATATT
15800
CATTTTTATA TTTGATTACT TAACTTTGGC AAGTCAAATG TAAAGTCCAG
15850
TAGTGAATTT TGCTCTTGGT ACTGAATCTC TGAAGAACTG AAGAGGTAGG
15900
AAGATGCTGC ATTCTTATAA AGGTTATTTA AAAGCAATAC CCGTAATTTC
15950
TTTATGGGAC AATCTTACAT ATAG
T
ATAAA ATTTTTATTT GATAATCATT
16000 |
var(15975):[G:0.15]
TTGTGACTAT TCTGTTCAGT AATATGCAGA AAGACATTCT GAAATCTGTT
16050
AATCTCTAAA CATTTTAACG TTAGCTTGCC ATACTTGAAA GAAACTGGCT
16100
AGCTGCAGTT TACATTCCAT TGTAAGCAGG TCCTCCTCCA CCTTCAGGTA
16150
C
C
ACCCAGTT AATATTCTGA CTTGGATCTT TAATATCACA TGTTTTACAA
16200 |
var(16152):[T:0.01]
TGTACACAGT TCTGAGCATT TATCTGTAAC CGAAATCCAT CACCTTGTTC
16250
CACAGGTACA AATTCATAAA CTCCTGAAAA GTAAAAATAA ATAATATTGA
16300
AGTGCCTAAC TTTAAAAAAT TTTTAAATTC AAAAGTAAAA ATTAAGGAAA
16350
GAGTAGCCAC AGAAACCTTA AAGGTTGCTT TCTGAATGCT TACCCATAGA
16400
GATTATGAAG ACCTTGGTGC ATTGCTATTG ATGTGAGTGT AAATTACATG
16450
TACATAATAA AAGGAGGTAC AGCGGTATTC AGCTGAGTTG TCTCACTATC
16500
AAGGGTACTC GACACTGAGT GT
T
TGAGTTC CACACAACCT CGAAGTCCTC
16550 |
var(16523):[C:0.03]
CCTTATTCAC
A
G
T
C
A
T
C
C
T
C
T
C
A
T
T
C
A
C
A
G
G
G
G
A
C
A
A
G
T
T
C
C
A
A
G
A
T
C
C
C
16600 |
REPEAT
C
A
G
T
A
G
A
C
G
C
C
T
G
A
A
A
C
C
T
C
A
G
G
T
A
G
T
A
C
T
C
A
A
C
T
T
A
G
A
T
T
G
T
C
A
G
T
C
A
G
16650 |
var(16638):[C:0.39]
A
A
C
A
C
G
T
T
T
C
T
G
T
T
C
A
T
G
T
A
T
T
T
C
A
C
C
C
A
C
A
A
A
T
G
T
G
A
T
G
C
C
T
T
T
T
C
C
A
T
16700
C
T
T
A
A
G
G
A
A
G
C
A
C
T
T
G
C
C
A
C
A
C
T
C
T
G
G
C
C
A
T
A
A
C
T
T
C
T
A
C
A
G
T
T
C
G
A
G
G
T
16750 |
var(16711):[T:0.02]
C
C
A
A
C
A
G
C
A
A
A
A
C
G
C
A
C
A
A
A
T
T
T
C
T
T
T
T
T
C
C
T
C
T
T
T
C
A
C
A
G
A
A
G
A
T
A
C
A
G
16800
T
C
T
T
A
C
C
A
T
A
G
A
C
C
T
T
A
G
C
A
A
C
C
T
C
A
G
C
A
T
A
G
G
A
T
T
T
T
T
T
T
C
T
C
T
T
T
A
T
A
16850
G
A
G
A
A
C
T
T
T
C
T
C
C
T
T
T
C
A
C
T
T
A
A
A
G
G
A
A
G
C
A
C
T
T
T
A
T
G
G
C
A
T
C
T
C
T
G
A
A
T
16900
T
G
T
C
A
G
C
A
T
C
A
C
T
A
C
T
C
T
T
G
C
G
T
T
G
T
G
G
G
G
A
T
A
T
T
T
C
T
A
A
A
G
G
G
T
T
A
C
T
G
16950
G
A
C
A
C
A
A
G
T
A
T
G
A
T
A
A
T
G
T
G
A
C
A
G
T
A
A
A
T
C
T
G
A
T
A
A
C
T
T
A
G
A
T
G
G
C
T
A
C
C
17000 |
var(16962):[:0.02]
A
A
G
T
A
A
C
A
T
A
A
C
G
A
A
T
G
T
T
A
G
G
T
G
T
G
A
A
T
A
T
G
C
T
G
G
A
C
A
A
A
G
G
G
A
T
A
A
T
T
17050
C
A
C
A
T
T
C
A
G
G
G
T
G
G
G
G
C
A
A
G
C
C
C
G
A
A
T
G
G
T
A
C
A
C
A
A
T
T
T
A
A
A
A
C
T
T
A
A
C
G
17100
T
G
C
A
C
A
A
T
T
T
A
A
G
A
C
T
C
A
A
G
A
A
T
T
A
T
T
T
C
G
T
T
T
C
T
G
G
A
A
T
T
T
T
C
T
T
A
T
T
T
17150 |
var(17125):[G:0.01]
|
var(17129):[:0.99]
T
C
A
G
A
C
C
G
T
G
G
G
T
G
A
C
T
G
G
G
G
G
T
A
A
GAGGA GCCTAACGGT ACAGCTAAAA
17200
AACCAAATTT AACCTCAGGG AGTTTTCAAC CCACTGTAAT GACAAAAGCC
17250
AAAAGACCAA GTCACA
G
T
GT ATCTTCTTTT GTGAATGTAC TACTTTTCGA
17300 |
var(17267):[C:0.02]
|
var(17268):[C:0.03]
GTATCGGAAT ACTATTTTGT TCTACCATAT CATTTGAGAC CTGGTTCCTA
17350
TTACTGTAAT TTCAGTTGAA AGCTCAGCAC TGAAAGAATA TTCATGGTGA
17400
ATTTAAAGTT TCAGAGCATT CCTTGGACTG AATGT