CES3 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
CCAGGGTCTA GTGTCCATGG GTAGGTCC
C
A
G
A
G
C
T
G
G
G
A
C
T
A
G
A
G
C
A
A
G
A
50 |
REPEAT
C
A
A
G
C
A
A
G
T
G
T
A
A
A
A
T
T
T
A
G
A
A
G
G
C
A
T
T
C
A
T
T
C
T
C
A
G
G
T
G
C
C
G
A
C
C
C
T
C
T
100 |
var(59):[C:0.0130]
A
C
T
G
G
T
A
T
G
A
C
C
C
C
G
G
G
G
G
T
G
A
G
T
G
A
C
T
C
T
T
T
A
A
C
T
T
T
T
A
T
G
C
C
C
T
G
G
G
C
150
G
C
C
T
T
G
C
T
G
G
C
C
T
G
T
C
T
C
A
C
C
C
T
A
G
T
C
C
T
G
G
C
C
C
T
G
GTAG GCC
C
A
T
C
C
A
C
200 |
REPEAT
A
A
T
G
C
T
A
G
G
A
G
G
G
A
A
G
G
C
A
G
A
C
C
T
A
G
C
T
G
C
A
G
G
G
A
G
T
T
G
G
G
A
A
A
C
G
T
G
G
C
250
C
T
T
G
G
G
A
G
C
A
G
A
T
G
G
A
G
A
G
C
T
C
T
C
C
T
G
G
C
A
G
C
A
T
C
T
A
T
A
C
C
C
G
A
A
G
A
T
G
G
300
A
A
G
G
T
A
A
G
A
T
T
G
T
G
G
G
C
G
G
A
G
A
A
G
A
G
A
T
C
C
A
G
G
T
G
C
C
T
T
G
A
T
G
T
G
A
G
T
G
T
350
T
G
A
A
G
G
T
G
G
A
A
A
G
C
A
T
G
C
C
A
G
A
G
C
C
A
G
G
T
G
C
T
A
A
A
A
T
C
T
T
C
A
G
C
A
A
A
T
G
A
400 |
REPEAT
T
C
A
A
G
G
G
G
G
T
G
T
G
G
C
T
G
G
G
G
G
G
T
G
G
C
A
G
G
G
C
T
G
T
G
A
T
G
G
C
A
A
C
A
A
G
A
A
G
A
450 |
var(424):[T:0.0053]
G
G
A
A
G
GTGGA ATAGGGAAGG ACAAAGTCTG GAGGCAGCTC TGAAAAGGAG
500
ACCCCACCCC AGGCTGCCGG GGAAGATTCA GGAAGCTGCA ATGG
T
T
T
T
T
T
550 |
REPEAT
A
T
G
A
A
T
T
T
T
T
T
T
T
T
A
G
A
G
A
G
A
G
A
G
T
C
T
T
G
C
T
A
T
G
T
T
G
C
C
C
A
A
G
C
T
G
G
C
C
T
600
C
A
A
G
C
T
C
C
T
G
G
G
C
T
G
A
A
G
C
A
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
G
C
C
T
G
A
G
T
A
G
C
T
G
650
G
G
A
C
T
A
C
A
G
A
C
T
T
G
T
G
C
C
A
C
A
A
T
G
C
C
C
A
G
C
TGGCACTAGT TATTTTTGGC
700
AGAAGGGAAG TTTCATCCTA AAGCCTGTCT CTTCAGCTCT GGGTGCCAGC
750
TGGAGCCCCG GAAGAGGATC TGGCATCGTG TTTAGGCACA ACCCTCACTC
800
TGTCTTTCAC TGGGCCAGCA AATATCTATC CATCCTCCCA CCGCCTACTC
850
CCAGCCAGCC ATGTTCCTGA CACTGAGGCC CAGAAGTGAG TCCTGCCCTC
900
CCTGGGGGTG GGAGCCTCCT AAGCCAGCAG AGAGACAGAT GCCCTGCAGA
950
TCCCCGCCC
C
GGTCAAGAGC AGGCTTCCAT CAGTTCTGGT TCC
C
AGACTC
1000 |
var(960):[T:0.0053]
|
var(994):[T:0.1263]
TCCTCTCCTC AGGCTTCCAT GAGTTCTGGT TCCAAGCCCC TCCCCTCCTC
1050
TCCCCTCCCC TCCCTCCCTC CCTC
C
C
T
C
TC TCTCTTTCTT TCTCT
C
T
C
T
A
1100 |
var(1075):[:0.0158]
|
var(1096):[:0.0054]
TTTTTCTTTT TTCTCTTTTT GTTTCTTTCT CTTTTTCTGT CTCTTTTTCT
1150
TTCTCTCTCT CCTTTCTCTC TCTCCTTCTT TCTCTCTCTC CTTTCTT
T
C
T
1200 |
REPEAT
T
C
T
C
T
C
T
C
T
C
T
C
T
T
T
C
T
C
T
C
T
T
T
C
T
T
T
G
T
C
T
T
G
C
T
C
T
A
T
A
G
C
C
T
A
G
C
C
T
A
1250
G
A
G
T
G
C
A
G
T
G
G
C
A
T
T
A
T
C
A
C
A
G
C
T
C
A
C
T
G
C
A
G
T
C
T
C
G
A
C
A
A
C
C
T
G
G
G
C
T
C
1300
A
A
G
T
G
A
T
C
C
T
C
T
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
G
C
A
T
G
C
1350
A
C
C
A
T
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
T
A
T
T
T
T
T
T
C
T
A
G
A
G
A
C
G
T
G
T
C
T
C
C
C
1400
T
G
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
G
A
T
C
T
T
C
C
T
G
C
1450 |
var(1440):[A:0.0054]
C
C
C
A
T
C
C
T
C
C
T
A
A
A
G
C
A
C
T
G
G
G
A
T
T
A
C
A
G
G
T
A
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
A
G
T
1500 |
var(1451):[T:0.0054]
C
CCAAGCCTC ATGTTTTCAC ACACACACTC ACACACACAT GCAAACATGT
1550
A
C
C
C
T
C
A
C
T
T
C
A
A
T
G
C
T
A
T
G
A
G
G
T
G
G
G
T
C
C
T
A
T
T
A
T
C
A
T
C
A
C
T
G
T
T
T
T
A
T
1600 |
REPEAT
|
var(1575):[A:0.0132]
TTTCTT
T
C
A
C
A
T
T
T
T
A
A
C
A
T
G
A
G
A
T
T
T
G
G
A
G
G
G
G
A
C
A
A
A
A
C
A
T
C
C
A
A
A
C
C
1650 |
REPEAT
A
T
A
T
C
A
AGCC CTCACCTCAG GCTGGGTTGC CCACTCGGAG TGGCACCCCA
1700
GGGTCACTGG CCACCACTTC CTAGGGTCA
G
TGATGTGGTC ACCTTGGGAT
1750 |
var(1730):[T:0.0183]
GAACGCACAG GATTTCATGG AGATCACCAA GTCAGGAGAG CTGGAATTTG
1800
AAAACAGTGG GACGGGGAGG GCTGTCATAT CAACCAGGCC TCTGCAGGGC
1850
ACTCATCTAG CCCTGCCTCT GGCTCAGCCT GAG
C
ATGGGG CTGGCCACCA
1900 |
var(1884):[T:0.0185]
GCTAGGTGGC GCTGTCCTTG GAGGTTCTAT ATCACAGCCC TTTA
G
A
G
A
T
C
1950 | Exon 1 |
UTR
G
G
T
G
G
T
G
C
T
G
A
A
G
G
G
C
A
G
G
G
A
T
C
T
T
A
T
T
C
C
A
C
C
T
T
C
T
G
A
A
G
C
T
T
C
T
G
T
C
G
2000
A
A
C
C
A
G
T
T
G
T
A
A
G
G
A
G
A
A
T
G
G
A
G
A
G
A
G
C
A
G
T
G
A
G
A
G
T
G
G
A
G
T
C
C
G
G
G
G
T
C
2050 |
var(2007):[C:0.0067]
M E R A V R V E S G V 11
C
T
G
G
T
C
G
G
G
G
T
G
G
T
C
T
G
T
C
T
G
C
T
C
C
T
G
G
C
A
T
G
C
C
C
T
G
C
C
A
C
A
G
C
C
A
C
T
G
G
2100
L V G V V C L L L A C P A T A T 27
TAAGACACAC CTGCTGGGCC TGCAGAGGTA CTTGGTGTG
G
AGGAGTCAAG
2150 |
var(2140):[A:0.0067]
AGTGAGACAG GGACAGGGAG CAGTGGGCCG ACCGCTCAGG AAACAGTCCT
2200
GTTTGGAGGC AGACCAGGGG TTGTGCATTC TCTCTGGGCA GGCGCTCTGC
2250
TCTTGCTGTA
T
T
T
G
T
T
T
C
G
T
T
G
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
G
A
G
A
C
A
G
A
G
T
2300 |
REPEAT
T
T
T
G
C
T
C
T
T
G
T
T
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
2350 |
var(2334):[T:0.0067]
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
T
G
G
A
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
T
G
A
2400
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
C
T
G
C
C
A
C
C
A
T
G
G
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
2450 |
var(2434):[T:0.0067]
T
T
T
A
G
G
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
G
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
A
C
T
C
C
2500
T
G
A
C
C
T
C
A
G
G
T
G
A
C
C
C
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
2550
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
C
TGTCTTT ATGTCTTAAG GGGGCCTGAG
2600 |
var(2564):[A:0.0067]
A
T
T
T
G
T
T
T
T
A
A
T
G
A
A
G
T
A
T
A
G
T
A
A
G
A
C
A
A
G
C
A
G
A
T
A
T
G
C
A
A
A
T
G
A
C
T
A
T
C
2650 |
REPEAT
A
T
G
A
G
G
G
A
A
G
G
A
G
T
T
T
G
C
T
C
G
T
A
G
T
T
C
C
C
T
G
T
G
A
A
C
A
G
G
A
A
G
C
A
G
G
C
C
A
T
2700
G
C
C
A
C
A
T
A
G
G
G
C
C
A
C
A
G
A
G
G
G
A
A
G
C
A
C
C
A
G
G
T
G
G
C
A
T
C
A
G
C
C
A
G
G
A
G
G
C
A
2750
G
A
G
G
G
A
G
C
A
G
G
G
G
G
A
A
A
A
T
G
T
G
G
G
C
A
A
G
C
C
C
C
T
T
T
G
A
C
A
C
G
G
T
T
G
C
C
A
C
G
2800
G
G
A
A
G
G
A
A
T
A
G
G
C
A
A
G
G
C
A
G
G
C
T
A
A
A
G
A
G
G
T
T
T
A
C
G
A
T
T
G
G
C
A
G
C
A
G
G
C
T
2850
C
T
G
G
G
G
A
A
A
G
G
G
G
C
T
G
T
C
C
C
C
A
G
C
C
A
G
C
T
T
C
C
T
G
G
T
A
C
C
C
G
G
C
T
C
T
G
T
G
G
2900
T
G
A
T
T
A
T
G
G
C
T
G
G
T
G
G
A
T
G
G
C
A
G
C
C
A
G
G
A
G
C
T
G
A
G
A
G
C
T
G
T
A
T
A
A
A
G
G
A
G
2950
G
T
G
G
T
T
G
G
G
T
A
T
G
G
C
T
C
T
G
G
A
C
T
G
G
T
T
T
G
C
C
T
T
T
G
C
T
C
C
C
T
A
G
A
G
A
G
A
T
G
3000 |
var(2963):[A:0.0495]
C
C
T
G
C
C
A
A
T
T
C
C
A
C
C
T
C
C
C
C
A
G
A
G
A
G
C
T
G
C
C
T
C
C
T
A
T
C
T
C
T
A
G
G
A
A
T
T
G
T
3050
C
T
A
G
C
C
T
G
G
G
A
G
A
G
G
C
A
G
T
C
C
T
C
C
A
G
T
C
T
T
A
G
T
C
T
G
T
T
T
G
T
G
T
T
G
T
T
G
T
A
3100 |
REPEAT
A
A
A
G
A
A
T
A
C
A
G
G
A
A
G
C
T
G
G
G
T
A
A
T
T
C
A
C
A
A
A
G
A
A
A
A
G
A
A
G
T
T
T
A
G
T
T
A
G
G
3150 |
var(3105):[T:0.0109]
C
C
A
C
A
G
T
T
C
T
G
C
A
G
G
C
C
G
T
A
C
A
A
G
A
A
A
C
A
T
G
G
T
G
C
C
A
G
C
T
G
G
G
C
A
T
G
A
T
G
3200 |
REPEAT
G
C
T
C
A
C
A
C
C
T
G
T
C
G
T
C
C
C
A
G
C
A
C
T
T
G
G
G
G
A
G
G
C
T
G
A
G
G
T
G
A
A
A
G
G
A
T
T
G
C
3250
T
T
G
A
G
C
C
C
A
G
G
G
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
A
T
G
A
G
A
C
C
C
C
A
T
C
3300
T
C
T
A
C
T
T
T
T
T
A
A
A
A
A
A
T
A
AT TCAG
G
G
C
T
G
G
G
C
A
T
G
A
T
G
G
C
T
C
A
T
G
C
C
T
G
T
3350 |
REPEAT
A
A
T
G
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
C
C
C
C
A
G
G
T
G
G
A
T
G
G
A
T
T
A
C
T
T
G
A
G
G
T
C
A
G
G
A
3400
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
A
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
3450
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
T
G
T
G
G
T
G
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
3500
G
G
A
G
G
C
T
G
A
G
G
C
C
C
T
G
G
A
G
T
C
G
C
T
T
G
A
A
C
T
C
G
G
G
A
G
T
C
A
G
A
G
G
T
T
G
C
A
G
T
3550
G
A
G
C
C
A
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
T
T
G
G
T
C
A
A
C
A
G
A
G
C
T
A
G
A
C
C
C
3600
T
G
T
C
T
C
A
A
A
C
A
C
A
A
A
A
A
A
T
A
A
A
A
A
C
A
A
A
G
A
A
A
TGGGCAAG TGGCTGGCCC
3650
CAAGGCACAA GGCCCTAGTG GCAGGCCCGG TCTGGCCTGG AGTGGAGTGG
3700
TAGTGACTCT CAGGCAGGCA GGGAGGAGGA AGTTGGGCG
T
CAACCTAAGA
3750 |
var(3740):[C:0.0063]
CCAGGCTCAC CGGCTTGCTG GGAAGGTTAC CAAGATGCTG TGTGGTAAGT
3800
ACTGAGAACA GCCTGAGGGT TTGTCTTTCA CTCCTTCCCC TCATGGGGGC
3850
TGCAAACTCA CCCCGTGGCC TTTCTGTCCT TCCCTCAG
G
G
C
C
C
G
A
A
G
T
T
G
3900 | Exon 2
G P E V 31
C
T
C
A
G
C
C
T
G
A
A
G
T
A
G
A
C
A
C
C
A
C
C
C
T
G
G
G
T
C
G
T
G
T
G
C
G
A
G
G
C
C
G
G
C
A
G
G
T
G
3950
A Q P E V D T T L G R V R G R Q V 48
G
G
C
G
T
G
A
A
G
G
G
C
A
C
A
G
A
C
C
G
C
C
T
T
G
T
G
A
A
T
G
T
C
T
T
T
C
T
G
G
G
C
A
T
T
C
C
A
T
T
4000
G V K G T D R L V N V F L G I P F 65
T
G
C
C
C
A
G
C
C
G
C
C
A
C
T
G
G
G
C
C
C
T
G
A
C
C
G
G
T
T
C
T
C
A
G
C
C
C
C
A
C
A
C
C
C
A
G
C
A
C
4050
A Q P P L G P D R F S A P H P A 81
A
G
C
C
C
T
G
G
G
A
G
G
G
T
G
T
G
C
G
G
G
A
T
G
C
C
A
G
C
A
C
T
G
C
G
C
C
C
C
C
A
A
T
GTGAGTA
4100
Q P W E G V R D A S T A P P M 96
GTGCTGGTGG AGGCGGGCAA ACAGGCAGGT TGCAGGAGAA TCCTGCTGCT
4150
GGGGCTTGTG GGGCTGAACA GCTGGACCTC AGGCCCACCC TTGGCCACAG
4200
96
G
T
G
C
C
T
A
C
A
A
G
A
C
G
T
G
G
A
G
A
G
C
A
T
G
A
A
C
A
G
C
A
G
C
A
G
A
T
T
T
G
T
C
C
T
C
A
A
C
G
4250 | Exon 3 |
var(4249):[T:0.0054]
C L Q D V E S M N S S R F V L N 112
G
A
A
A
A
C
A
G
C
A
G
A
T
C
T
T
C
T
C
C
G
T
T
T
C
A
G
A
G
G
A
C
T
G
C
C
T
G
G
T
C
C
T
C
A
A
C
G
T
C
4300 |
var(4298):[A:0.0105]
G K Q Q I F S V S E D C L V L N V 129
T
A
T
A
G
C
C
C
A
G
C
T
G
A
G
G
T
C
C
C
C
G
C
A
G
G
G
T
C
C
G
G
T
A
G
G
C
C
G
G TAGGCACCCC
4350
Y S P A E V P A G S G R P 142
AGAGGGCCCT GTCCACCTGA TCCAGCTCCA CTATGCCTAC CTGTCCCCTC
4400
CCCGTCCCTG TTTCCAAAGC ACCCTAGCGG TCCTGAGACT GCCTGGGCTG
4450
GCAGGTGGGC AGCTAAGGTC TCAGGAGCTT GGGGGTCAGT GCCCCATGGC
4500
CACCTCTGCA G
G
T
C
A
T
G
G
T
A
T
G
G
G
T
C
C
A
T
G
G
A
G
G
C
G
C
T
C
T
G
A
T
A
A
C
T
G
G
C
4550 | Exon 4 |
var(4520):[G:0.0105]
|
var(4536):[A:0.0053]
V M V W V H G G A L I T G 155
G
C
T
G
C
C
A
C
C
T
C
C
T
A
C
G
A
T
G
G
A
T
C
A
G
C
T
C
T
G
G
C
T
G
C
C
T
A
T
G
G
G
G
A
T
G
T
G
G
T
4600 |
var(4563):[C:0.0105]
A A T S Y D G S A L A A Y G D V V 172
C
G
T
G
G
T
T
A
C
A
G
T
C
C
A
G
T
A
C
C
G
C
C
T
T
G
G
G
G
T
C
C
T
T
G
G
C
T
T
C
T
T
C
A
G
GTGAG
4650
V V T V Q Y R L G V L G F F S 187
ACGACAGGCA TGGCCAGAGC ACTGCCTGCA CCGGGGAGAG GCCAGCTCAC
4700
CAGAGCAACT GGGGATCTAG GTTGGGGTCC GGAACCTGAA GGGAGGGCCC
4750
CTTACCCATG ATGTCTGAGG CAGAGAAGGG CACCCCCCAA GCCTCCACCC
4800
TG
G
GAGAGGG GTCCAGCCAA AGCCAGAATT ATACAGTGAA CTTGGTCCCT
4850 |
var(4803):[A:0.0054]
TGGGCAGAGG GCATTGATTC CTGGGCTGAA GCCCAGGTTC CAGCAGGATA
4900
TGGGACAAAG AGCAACAGGC TGTGGAGATG CCAACCACGG CTCCCAGACA
4950
GGCCAGACCT GGGGAGCAGA GAAGGGTCTG GCATCCTGGT GGCTAATTCA
5000
AAGCAAACCT GCAGAGGCTG GCGAGGAGCC AGGCTGAACT AACCGTTGCC
5050
CCAACACTGC CCCCAG
C
A
C
T
G
G
A
G
A
T
G
A
G
C
A
T
G
C
A
C
C
T
G
G
C
A
A
C
C
A
G
G
G
C
5100 | Exon 5 |
var(5077):[A:0.0108]
T G D E H A P G N Q G 198
T
T
C
C
T
A
G
A
T
G
T
G
G
T
A
G
C
T
G
C
T
T
T
G
C
G
C
T
G
G
G
T
G
C
A
A
G
A
A
A
A
C
A
T
C
G
C
C
C
C
5150 |
var(5144):[A:0.0054]
F L D V V A A L R W V Q E N I A P 215
C
T
T
C
G
G
G
G
G
T
G
A
C
C
T
C
A
A
C
T
G
T
G
T
C
A
C
T
G
T
C
T
T
T
G
G
T
G
G
A
T
C
T
G
C
C
G
G
T
G
5200 |
var(5196):[T:0.0054]
F G G D L N C V T V F G G S A G 231
G
G
A
G
C
A
T
C
A
T
C
T
C
T
G
G
C
C
T
G
GTAAGTCACT ATAGGGGGCT AGTGATGGTG
5250
G S I I S G L 238
GCCAGGAGGG CTCCGGTGGT CTCAGAACTC CCAGCTCCTC TGCCCTCCTC
5300
TGACAGCCAC CTCCTCTCTC CAATGCACCC AG
G
T
C
C
T
G
T
C
C
C
C
A
G
T
G
G
C
T
5350 | Exon 6
V L S P V A 244
G
C
A
G
G
G
C
T
G
T
T
C
C
A
C
A
G
A
G
C
C
A
T
C
A
C
A
C
A
G
A
G
T
G
G
G
G
T
C
A
T
C
A
C
C
A
C
C
C
C
5400
A G L F H R A I T Q S G V I T T P 261
A
G
G
G
A
T
C
A
T
C
G
A
C
T
C
T
C
A
C
C
C
T
T
G
G
C
C
C
C
T
A
G
C
T
C
A
G
GTC TGTATTTCCT
5450
G I I D S H P W P L A Q 273
TCCCTCTCTT ACTCTATGTG TGCCTCCCAT ACCCCACTCT GTGCTGGCCC
5500
TGGGGTCTCA GAGTAGCGGG GTTTGCTGGC AGGGAGCTCC CTGTTAGCAA
5550
AGAGAAGCCC AATAAGACGA AGGAGCATCA GAGGAAACAA CTGCTGCATT
5600
CCAGCATATT GGCACTCAGG GAGGGCTTCC TGAAGGAAGC CACCCTGAAG
5650
CATATCATTG TTGGCCCTTT CTCCAGGGTG GGGTCTTCAG GAGCACCCCT
5700
CTCTGCCCCA GGCAGCATGG TGGAGGGGGT CTCCATTGCC AGCCACCTGC
5750
TGCCTGCGAG CTCTCCATTC AGGCTCCAGA TCCCCACCCT AGATCCTCAT
5800
TGTAAGGCCT TGTGAAGAAA ATCCAGGGGA AGCCACAGTG GGAACTGCAT
5850
CTGCAAAGGC TGCAGGTGTG GGAGAGAGTG ACAGGTCCTG CAGGAGCAAG
5900
CTCGCAGGTT AGGGAACAGG GCAGGAAGTG AAGGTGCTGG AGAAGTGGGG
5950
GCCATGCCTG GGAATCTGGA CTTTCTCCAG AGGGCAGGAA GAAGTTGGGC
6000
AATGACAAGG TTGAGCTACC TGGAGTAGAA GGTGGGTTGG AGGGAGCCGT
6050
CCTGAAGATC AAGACACCAG TGAAATGACC AGGGCAGAGT CCAGGAGAAA
6100
GAGACAGGAT GGAATAGGGA TAGAGCCATC GGGGAGAGAG GGGGCAAATG
6150
TGAGCAG
G
AT TTGGAAGACT GGGTCA
A
TTC CCTCACCTGG CCCCAGATGG
6200 |
var(6158):[A:0.0053]
|
var(6177):[G:0.4255]
TGGCCAAGGC AGTGTGGGCT GGGCATTTTA ACCACTGTGT ACAAGATGAT
6250
TCTGGAACCT CTGCGTGGGC ATGTTGACTC TTGTATGGAC A
A
C
A
G
C
A
T
C
C
6300 |
NOT SCANNED
T
C
C
T
C
T
C
A
A
C
C
T
C
C
C
C
A
T
C
C
C
A
T
C
C
T
C
T
C
C
C
C
A
T
G
G
C
C
A
G
G
A
G
A
G
A
T
T
T
T
6350
C
T
C
A
A
C
C
A
C
A
G
A
C
T
T
G
A
G
G
T
C
A
T
T
C
C
C
T
G
T
C
T
C
T
C
C
T
G
T
G
T
C
C
A
A
A
G
A
A
A
6400
A
A
C
A
C
A
G
C
T
C
A
A
G
G
C
T
G
A
G
G
T
T
G
G
C
G
G
A
T
C
A
C
A
A
A
G
T
C
A
G
G
A
G
A
T
C
A
A
G
G
6450 |
REPEAT
T
G
A
T
C
C
T
G
G
C
T
A
A
C
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
T
A
C
A
A
A
A
A
A
6500
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
G
G
T
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
6550
G
A
G
G
C
A
G
A
A
G
A
A
T
G
G
T
G
T
G
A
A
C
C
C
G
G
G
A
C
G
C
A
G
A
G
C
T
T
G
C
G
G
T
G
A
G
C
C
A
A
6600
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
G
T
C
T
G
T
C
T
C
A
6650
A
A
A
A
A
A
T
A
A
T
A
A
T
A
A
A
A
G
A
T
A
A
T
G
A
C
A
C
TA TTCTTAGAGG GCAATGAGGA
6700
CTCAGTGCCC CCATTCCCCC AGATAATAAA ATTATGGTAT AATAGGGGAC
6750
GCAAGGGGGC CCTTGGGACC ACCCAAGCTG AC
G
GGCAGGG CAGGCTTCTC
6800 |
var(6783):[A:0.0054]
AGGAGTGGTG ACAAGTCTGT GACCAGTCTC GAGGCCGATC TGTGACATCA
6850
CATCCAGCTG TCCTACAGAT GCACCCTCTC TGTGGGAGGC AGAAGGCTGC
6900
AAGGTGGGGC TGAGTGGCTG AGAGGGAGGC ATGACTCTTT CATTTGTCCC
6950
CAG
A
A
A
A
T
C
G
C
A
A
A
C
A
C
C
T
T
G
G
C
C
T
G
C
A
G
C
T
C
C
A
G
C
T
C
C
C
C
G
G
C
T
G
A
G
A
T
7000 | Exon 7 |
var(6968):[T:0.0053]
K I A N T L A C S S S S P A E M 289
G
G
T
G
C
A
G
T
G
C
C
T
T
C
A
G
C
A
G
A
A
A
G
A
A
G
G
A
G
A
A
G
A
G
C
T
G
G
T
C
C
T
T
A
G
C
A
A
G
A
7050
V Q C L Q Q K E G E E L V L S K 305
A
G
C
T
G
GTATG GCCACCCTTT TGG
G
GATGGT GCCGGGCAAT GGCACAGAGG
7100 |
var(7074):[A:0.0526]
K L 307
GGGTTCTATC CATCCCCTGC AGGAGCAGAG GGGCAGTCTA CCCCCAGGTG
7150
GGGCTGGGGA CAGCAGCTCA TGAGGGGAAG GGGCTGAGGG CTTGGAGACA
7200
GAAATGGAGG GCCATCTCCA TCCCCACAGC AGGCCTGTCT TCTAGGAAAG
7250
AAACTGGACG CATCTGTTGC CCTGATCTCC TGGTTCCCCC GACCCCCTTA
7300
ACCCTGGTGA TCTTCATCCC TTCACTTTCC CTCCAGGCTC AGACACTCAG
7350
GCCTGCAGCT CAGTGGCTGC TGGGGTCCTA GCCTTTGAGG CTTGGCCCTA
7400
ACTTGGGAGC CTCCTGCATT GCTTTCTCCT GCAG
A
A
A
A
A
T
A
C
T
A
T
C
T
A
T
C
7450 | Exon 8
K N T I Y 312
C
T
C
T
C
A
C
C
G
T
T
G
A
T
G
G
C
A
C
T
G
T
C
T
T
C
C
C
C
A
A
A
A
G
C
C
C
C
A
A
G
G
A
A
C
T
C
C
T
G
7500
P L T V D G T V F P K S P K E L L 329
A
A
G
G
A
G
A
A
G
C
C
C
T
T
C
C
A
C
T
C
T
G
T
G
C
C
C
T
T
C
C
T
C
A
T
G
G
G
T
G
T
C
A
A
C
A
A
C
C
A
7550
K E K P F H S V P F L M G V N N H 346
T
G
A
G
T
T
C
A
G
C
T
G
G
C
T
C
A
T
C
C
C
C
A
G
G
GTGAG TTGCTCCCAC CCCTGTGCCC
7600
E F S W L I P R 354
TTCAAGGCCC TGCCCCAGCC AGTACCTGCC ACCCCAGC
A
T
C
A
A
C
A
C
T
A
C
A
7650 |
REPEAT
G
C
C
T
T
G
T
G
A
A
C
G
G
A
G
C
A
C
T
C
C
C
G
T
T
A
C
T
C
C
C
A
T
T
T
G
A
T
A
A
G
T
G
A
G
A
A
A
G
C
7700
A
G
A
G
G
C
C
C
A
G
A
A
A
G
G
T
T
T
G
A
G
G
G
A
C
T
T
G
C
C
C
A
A
G
G
T
C
A
C
C
C
A
G
C
T
TTGTT
7750
TTGTTGTGTT GTTGTTTTGC TTTTTTTTTT CTG
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
7800 |
REPEAT
G
T
T
T
G
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
7850
G
G
T
G
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
T
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
A
G
T
T
T
C
7900
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
C
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
A
T
G
C
C
A
C
C
A
C
A
7950
C
C
C
A
G
C
T
T
T
C
A
C
C
A
C
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
G
C
T
C
C
T
G
A
C
C
T
C
A
A
G
8000 |
var(7966):[A:0.0556]
T
A
A
T
C
C
A
T
C
T
G
C
T
T
T
G
G
C
C
T
T
C
C
G
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
G
G
C
C
8050 |
NOT SCANNED
A
C
T
T
C
A
A
T
A
A
A
G
C
A
A
A
T
G
T
T
T
T
C
T
T
T
T
G
G
G
G
A
A
C
A
A
G
G
T
T
T
T
T
G
C
A
C
A
A
A
8100
C
T
G
G
C
C
T
T
C
T
G
G
G
C
A
C
T
G
C
T
G
A
T
C
T
G
G
G
C
A
G
C
A
T
A
T
T
C
C
T
G
C
C
T
T
G
G
C
G
T
8150
C
T
G
G
T
T
T
A
T
A
C
A
T
C
A
G
G
C
T
C
T
A
T
G
A
G
A
C
T
G
G
T
T
A
G
T
G
T
G
A
C
T
C
T
G
T
G
C
C
A
8200
G
A
G
C
A
A
T
T
G
A
C
T
A
A
A
A
C
T
C
T
C
A
G
G
T
T
T
T
A
G
A
T
A
T
C
A
A
G
C
C
A
C
C
G
G
G
G
A
C
T
8250
T
C
A
T
G
A
G
C
C
A
A
G
T
C
C
C
T
T
C
C
A
T
T
C
C
T
T
T
C
C
A
G
G
T
G
C
A
T
A
G
A
A
C
T
T
C
C
C
A
C
8300
A
A
G
A
G
T
G
T
C
A
G
C
A
C
T
G
T
G
C
T
T
T
C
A
T
C
C
C
G
A
G
C
A
T
C
T
T
G
T
T
T
C
T
G
T
C
A
T
T
C
8350
T
T
A
T
T
C
T
T
C
T
A
C
C
C
A
T
C
T
T
C
A
C
A
G
C
A
A
T
C
A
T
T
T
T
C
T
T
C
A
C
T
T
T
T
C
T
T
T
T
T
8400
T
T
T
T
T
T
T
T
T
T
C
G
T
C
T
T
G
G
C
C
C
A
T
T
G
C
A
C
A
C
C
C
T
A
A
G
A
C
A
A
A
G
C
A
A
T
C
C
A
T
8450
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
T
G
T
G
T
G
T
T
T
G
T
T
T
G
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
C
C
8500 |
REPEAT
T
C
G
A
T
C
C
A
T
C
A
T
C
C
A
G
G
C
T
G
C
A
G
T
G
C
A
G
C
A
G
C
G
C
C
A
T
C
A
T
G
A
C
T
C
T
C
T
A
C
8550
T
G
C
C
T
C
A
A
C
C
T
C
T
C
A
G
G
C
C
C
G
A
G
C
A
A
T
C
C
T
C
C
C
A
G
C
T
T
C
C
T
G
A
G
T
A
G
C
T
C
8600
G
G
G
C
C
T
C
A
G
G
T
C
T
G
T
G
C
C
A
C
C
A
T
A
C
T
C
T
G
C
T
A
A
C
T
T
T
T
T
T
T
T
T
C
T
T
C
C
G
T
8650
G
T
A
T
A
G
T
C
A
G
G
T
C
T
C
C
C
T
C
T
G
T
T
G
C
C
C
A
A
G
C
T
G
G
T
C
T
A
G
A
G
C
A
C
C
T
G
G
C
C
8700
T
C
A
A
G
C
A
A
T
C
C
T
C
T
T
G
C
C
T
C
G
A
C
C
T
C
C
C
A
C
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
A
C
A
T
8750
G
A
G
C
C
A
C
A
G
C
A
C
C
C
A
G
C
C
A
A
C
A
A
C
C
A
C
T
T
T
T
A
A
T
G
G
C
T
G
C
A
A
A
T
C
T
T
C
C
A
8800
C
A
A
A
T
G
G
A
G
C
G
T
C
T
C
G
T
T
A
C
A
T
T
G
T
T
C
T
T
T
C
A
T
C
T
T
G
G
C
A
T
T
T
G
G
G
C
A
T
C
8850
T
T
C
T
A
G
T
T
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
G
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
T
T
T
G
8900 |
REPEAT
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
G
T
G
G
A
G
T
G
C
A
A
T
G
G
C
G
C
G
A
T
C
T
T
A
G
C
T
C
A
C
C
G
C
A
C
8950
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
A
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
T
G
9000
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
C
T
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
9050
T
T
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
T
C
C
A
T
G
T
T
G
G
A
C
A
G
G
C
T
G
A
T
C
T
G
G
A
A
9100
C
T
C
C
T
G
A
A
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
A
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
A
T
G
C
T
G
G
G
A
T
9150
T
A
C
A
G
G
C
A
T
G
A
G
G
C
T
G
C
A
C
C
C
G
G
T
C
C
T
G
G
C
A
A
C
T
T
C
T
A
G
T
T
T
T
T
A
C
C
A
C
T
9200
G
A
G
G
C
T
A
A
T
A
G
C
G
C
A
G
T
G
A
A
T
G
T
C
T
T
C
A
T
G
T
C
C
A
T
G
G
C
T
T
T
T
G
T
C
C
T
C
T
G
9250
A
C
T
T
A
G
C
C
C
T
T
T
G
G
A
A
T
C
A
A
T
C
C
C
C
T
C
A
T
A
T
T
G
G
T
C
C
C
T
T
G
G
T
A
T
G
T
G
A
G
9300
A
G
A
G
A
G
G
C
T
C
A
T
G
C
A
A
T
C
T
T
G
A
C
A
T
T
C
A
A
A
G
A
C
A
A
A
G
C
T
T
A
A
G
C
C
G
G
G
T
G
9350 |
REPEAT
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
A
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
A
G
T
G
G
9400
G
T
C
A
C
T
T
G
A
A
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
A
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
9450
C
C
A
T
C
T
G
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
9500
G
T
A
A
T
T
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
C
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
A
G
9550
G
A
G
G
C
A
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
C
T
G
T
C
C
C
A
C
T
A
T
A
C
T
C
C
A
G
C
C
T
G
G
9600
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
A
C
T
G
T
C
T
C
A
C
A
A
A
A
T
A
C
A
A
A
G
C
T
T
G
T
A
A
A
A
G
T
T
T
T
9650
C
A
G
G
T
C
A
A
T
G
C
C
C
T
C
A
A
C
T
C
T
G
G
C
A
G
G
C
A
G
C
C
T
T
T
A
C
C
C
C
A
C
A
C
C
A
T
C
A
A
9700
C
T
T
A
C
A
G
T
T
G
T
A
T
G
A
GTGAA ACCAAGGGAA CCCCAACCTG GCTGTGCCCC
9750
AGGACCTGGG
T
AGATCTGCC TGGCGTGGAA GGCTGTGCCC AGGACTTGTT
9800 |
var(9761):[G:0.0110]
GCTGAGAATG TTTCTTAGAA GTTGGGTGAC TCA
G
G
C
T
G
G
G
C
C
C
G
G
C
G
G
C
T
9850 |
REPEAT
C
A
T
G
C
C
T
T
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
G
C
A
G
G
C
G
G
A
T
C
A
C
T
C
A
9900
A
G
G
C
C
A
G
G
A
G
T
G
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
C
A
T
A
A
C
C
C
C
A
C
C
T
C
T
9950
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
C
G
G
T
G
G
T
G
C
A
C
G
T
C
T
G
C
G
G
T
C
C
C
10000 |
var(9970):[T:0.0500]
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
A
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
10050
G
G
T
T
G
C
G
G
T
G
A
G
C
C
G
A
G
A
T
T
G
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
G
G
A
10100
G
T
G
A
G
T
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
TGTTG AAGAAATTTT TCATTCTCTA
10150
CAGTTGCCTT TAACCACTTG CCTGTTGTAT TTGGGGCTGC TCTCCCCATC
10200
CACACCAACC ACCTCCCACC AATTTGC
G
GT TTATCTTTTT GGATCTGTGG
10250 |
var(10228):[A:0.0054]
ACTTTTCGGC CCCATTTTGG CCAAGTGCTC CATGATGAGT TTCTGGCCTC
10300
AGGACCGTGA ACACTCTCTT GCCCAGGGCT GGGAGTCGGG GTGAGCC
G
GT
10350 |
var(10348):[A:0.0054]
GGTCAGGCTC CACTGAGAGG GCCTTGGTGT CCACACAG
G
G
C
T
G
G
G
G
T
C
T
C
10400 | Exon 9
G W G L 358
C
T
G
G
A
T
A
C
A
A
T
G
G
A
G
C
A
G
A
T
G
A
G
C
C
G
G
G
A
G
G
A
C
A
T
G
C
T
G
G
C
C
A
T
C
T
C
A
A
C
10450 |
var(10425):[T:0.0053]
L D T M E Q M S R E D M L A I S T 375
A
C
C
C
G
T
C
T
T
G
A
C
C
A
G
T
C
T
G
G TGAGACAAGA GGCAGGAGGG AGGAAGCTAG
10500 |
var(10454):[T:0.0426]
P V L T S L 381
GGCAGGAGGG AGGAAGCTAG TGGGTATCCC ATCCAACAGC ACAGTCTCTG
10550
CCCCTACCTT CCGACACCCA CAGCTACCCA CCTACCACCA AGCCCCTTTG
10600
TCTAACTGAT CAATTTTACT TCCACTCCGG AATCTCCTTA GATATGAGCC
10650
AGTGTGGTTC TCAAAGGAAA ACCATCATCA CCATCATCGT CAACATGAAA
10700
CTGCCCG
T
T
A
A
T
G
A
G
C
A
C
A
T
A
T
T
A
C
G
T
G
C
C
A
G
G
G
A
C
T
A
T
G
G
T
G
C
A
C
T
G
A
G
10750 |
REPEAT
C
G
C
C
G
G
G
A
G
A
G
G
G
T
T
T
C
A
T
C
T
C
C
T
T
C
A
A
T
C
C
T
C
A
C
T
G
C
A
A
C
T
C
T
G
T
T
T
T
C
10800 |
var(10764):[A:0.0115]
|
var(10782):[G:0.0055]
T
T
T
T
C
T
T
T
T
C
T
T
T
T
C
T
T
T
G
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
10850 |
REPEAT
C
T
C
T
G
T
C
G
C
C
A
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
C
C
G
A
T
C
T
C
G
G
C
T
C
A
C
C
G
C
A
A
C
10900
A
T
C
C
A
C
C
T
C
C
C
T
C
A
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
G
T
A
G
C
10950
T
G
G
G
A
T
T
A
C
A
G
G
C
C
C
C
T
G
C
C
A
C
C
A
T
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
G
T
T
T
T
A
G
T
11000
A
G
A
G
A
C
A
G
G
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
C
C
T
11050
C
A
G
G
T
G
A
T
T
C
A
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
G
C
G
A
G
C
G
T
G
11100
G
A
G
C
C
A
C
C
G
C
G
C
C
C
G
G
C
G
C
T
G
C
A
A
C
T
C
T
T
T
A
C
A
G
A
G
G
A
A
T
T
C
T
C
G
C
T
A
G
C
11150 |
REPEAT
C
C
C
A
T
T
T
T
A
C
A
C
A
T
G
A
G
G
A
A
A
C
T
G
A
G
G
C
T
T
G
A
G
G
T
G
T
C
A
T
G
C
T
G
G
G
G
A
A
G
11200
G
G
G
C
A
G
A
G
G
C
A
G
A
G
T
T
T
A
A
G
C
C
A
G
T
T
T
T
G
T
C
T
G
A
C
C
C
T
A
G
A
G
C
C
T
C
A
G
C
T
11250
G
T
C
A
GATG
T
G
G
A
G
C
T
A
G
A
T
A
G
A
C
C
T
G
G
G
G
C
C
A
A
A
T
C
C
C
A
G
C
C
C
T
G
G
G
C
A
C
11300 |
REPEAT
T
T
G
C
C
C
A
G
T
T
A
T
C
C
T
A
T
C
C
C
C
T
C
T
A
A
G
C
C
C
A
T
C
T
C
T
T
C
A
T
C
T
A
C
A
C
A
T
G
G
11350
G
G
A
T
G
A
C
A
C
T
G
C
C
C
A
C
T
C
G
C
C
T
G
G
G
C
T
G
T
T
G
T
A
A
G
G
A
GAC TAGACGTTGC
11400
ATTTGAAGAG TCTACCTGGG ATCTCAATAC CAGGGGCTGT TCAATCTTTG
11450
TCCATTTCCC TTCTTTGGAA GCCCCAGAAC CCTTCCCATT CACGCAATCT
11500
CATCACTGCC CTCTGGAGCT GAGGGGAGCC CCTATCATTT CTGCTCTCAC
11550
TTACTTCCCA GTTAACTTCA ACCGAGCACC TGCTTCCAGG CCAGACCCTT
11600
TGCTGGGGAC TTCACATAGG CTGCCAGGCA
G
A
G
A
C
T
G
A
C
T
T
T
C
A
G
A
G
A
G
G
11650 |
REPEAT
T
T
T
A
G
C
C
A
C
C
T
G
T
C
T
G
C
G
A
T
C
A
C
A
C
A
G
C
C
A
A
G
C
A
G
T
G
G
T
T
G
C
A
G
A
G
C
T
A
A
11700
G
A
T
C
T
G
A
C
T
C
C
A
A
A
C
CTGAG CTTATGCCAA ACTCCCAGGG AGGCAGAGAG
11750
GCAGCTGGCT GTCCCCTGGA CCATCAGCCC TGGGATTTGA GGGAAGCTAT
11800
GCTGGAGAGT TTGGGGCTTC CTGGGATGGT CTGCCACATC TGTGCACCCT
11850
GAGCAGGGCT GAGCCTGGCC TCTTGCCCCA G
G
A
T
G
T
G
C
C
C
C
C
T
G
A
G
A
T
G
A
11900 | Exon 10
D V P P E M 387
T
G
C
C
C
A
C
C
G
T
C
A
T
A
G
A
T
G
A
A
T
A
C
C
T
A
G
G
A
A
G
C
A
A
C
T
C
G
G
A
C
G
C
A
C
A
A
G
C
C
11950
M P T V I D E Y L G S N S D A Q A 404
A
A
A
T
G
C
C
A
G
G
C
G
T
T
C
C
A
G
G
A
A
T
T
C
A
T
G
G
G
T
G
A
C
G
T
A
T
T
C
A
T
C
A
A
T
G
T
T
C
C
12000 |
var(11962):[A:0.0105]
K C Q A F Q E F M G D V F I N V P 421
C
A
C
C
G
T
C
A
G
T
T
T
T
T
C
A
A
G
A
T
A
C
C
T
T
C
G
A
G
G TAAGCCTGTC CCTGGCCACC
12050
T V S F S R Y L R 430
TGCCCAACCC CTCCCACTTG GGCCCAGGAG CTGGGTCATC ACAGGTGACA
12100
TGGCATGATA GGGTGCTGGT TCCCTCAATG CCTTGCACCC CACACCCCAC
12150
TGCCCCCCAC CAAACCTATC TTTCTCTGGG ATGCAGTGTC ATAGTAATGA
12200
GAGGTATCTC CAGCAGGAA
A
C
T
A
T
G
C
A
G
A
G
G
A
G
A
A
A
A
C
C
T
C
A
G
A
C
T
C
A
G
A
12250 |
REPEAT
G
A
G
G
T
A
C
A
A
T
G
A
C
T
C
A
C
C
A
A
A
G
G
T
C
A
C
C
C
A
G
C
AGGGCCTA TCACTAATTC
12300 |
var(12261):[A:0.0105]
TCAGGGATTC ACTCAAATGG GTGATTTCAT CCTCTTTCAG CACTTCTGGG
12350
GGGAAAGTCT TGCTTCCTTC AAGCCTAGTA GCTAATCCCT GATGCAGACC
12400
CAGAACAGTT CCA
G
A
C
C
C
A
G
A
A
C
T
T
T
G
T
G
A
C
C
T
T
G
G
G
C
A
A
G
A
T
A
C
C
T
A
C
C
12450 |
var(12414):[A:0.4368]
|
var(12415):[G:0.4368]
|
var(12416):[T:0.4368]
|
var(12417):[T:0.4368]
|
var(12418):[T:0.4368]
|
var(12419):[T:0.4368]
|
var(12420):[A:0.4368]
|
REPEAT
C
C
C
T
C
T
G
A
G
C
C
T
C
A
G
T
T
T
C
C
T
C
C
T
T
T
G
T
A
A
A
A
T
G
G
A
A
A
T
A
A
T
A
A
T
A
G
A
A
T
12500
C
T
A
ATCTATT AATTCTATTA ATACAGAATC TATTGTGATG GGGATTCAAT
12550
AAATGATGAC ACT
G
G
C
C
A
G
G
C
G
C
G
G
T
G
G
G
T
G
G
C
T
C
A
A
T
C
T
T
G
T
G
A
T
C
C
C
A
12600 |
REPEAT
G
T
A
C
T
T
T
G
G
G
A
G
A
A
G
C
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
12650
G
C
C
T
G
G
G
C
A
A
C
A
T
A
T
T
G
A
C
C
C
C
A
A
T
C
T
C
T
A
C
A
C
A
A
A
T
T
T
T
T
T
G
A
A
A
A
T
T
A
12700
G
C
C
G
G
G
C
A
T
G
G
T
G
G
T
A
C
A
C
A
C
C
T
G
T
A
G
T
C
C
C
A
G
A
T
A
C
T
T
G
G
G
A
A
G
C
T
G
A
A
12750
G
T
G
G
G
A
A
G
A
T
C
A
C
T
T
G
A
G
C
G
C
G
G
G
A
G
T
C
T
C
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
12800
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
T
C
G
A
C
A
G
C
A
A
G
A
C
C
A
T
T
T
C
A
G
A
G
A
T
T
A
12850
A
A
A
T
A
A
A
A
A
T ATTAAATTAA ATTAAAATGA TGACACAA
A
G
C
A
C
A
C
A
G
A
A
T
12900 |
REPEAT
G
G
T
G
C
C
T
G
T
C
A
C
C
T
A
G
C
A
A
G
C
G
C
T
C
A
G
T
A
A
A
T
G
T
T
T
G
CAG CTAGTCATTT
12950
TATCATCATC ATCATCATCA TCATGGAAAT TGGTGTTATT ATGAGCATGT
13000
GCTGCCAAAG GCAGCATCGA ATCAGGCCAT GAGTGCCTAA CTCCCATCCC
13050
ATCCTTTCTC TGTAG
A
T
T
C
T
G
G
A
A
G
C
C
C
T
G
T
C
T
T
T
T
T
C
T
A
T
G
A
G
T
T
C
C
A
G
13100 | Exon 11
D S G S P V F F Y E F Q 442
C
A
T
C
G
A
C
C
C
A
G
T
T
C
T
T
T
T
G
C
G
A
A
G
A
T
C
A
A
A
C
C
T
G
C
C
T
G
G
G
T
G
A
A
G
G
C
T
G
A
13150
H R P S S F A K I K P A W V K A D 459
T
C
A
T
G
G
G
G
C
C
G
A
G
G
G
T
G
C
T
T
T
T
G
T
G
T
T
C
G
G
A
G
G
T
C
C
C
T
T
C
C
T
C
A
T
G
G
A
C
G
13200 |
var(13160):[G:0.0053]
H G A E G A F V F G G P F L M D 475
A
G
A
G
C
T
C
C
C
G
C
C
T
G
G
GTGAG GACAGACAGA CAGACATGTG ATCCCTAGGC
13250
E S S R L 480
TGCCAGACTC CAAGGGGCCT GGGCAGGGCT TGCAGGAACA CGGGTCTCCA
13300
GTCAGCACTG AGGATCCTTG GGTCCCTTCC AGGTCCCACC TGACTCT
C
G
T
13350 |
var(13348):[T:0.0055]
|
var(13349):[A:0.0165]
TCAGTTCTGT CCCTCTCACC TTTCCAG
C
C
T
T
T
C
C
A
G
A
G
G
C
C
A
C
A
G
A
G
G
A
G
13400 | Exon 12
A F P E A T E E 488
G
A
G
A
A
G
C
A
G
C
T
A
A
G
C
C
T
C
A
C
C
A
T
G
A
T
G
G
C
C
C
A
G
T
G
G
A
C
C
C
A
C
T
T
T
G
C
C
C
G
13450
E K Q L S L T M M A Q W T H F A R 505
G
A
C
A
G
G
GTGA GTGAGTGACA GGGCATAGCT CGCTTTGGGC CTGGGATGCT
13500
T G 507
CAGGTCGGCC CCTCTGGGGG ACAGCACAGG AAGCCTTGGT CCTCATTCAT
13550
TCCTCCCACC CAG
G
G
A
C
C
C
C
A
A
T
A
G
C
A
A
G
G
C
T
C
T
G
C
C
T
C
C
T
T
G
G
C
C
C
C
A
A
13600 | Exon 13 |
var(13600):[G:0.0053]
D P N S K A L P P W P Q 519
T
T
C
A
A
C
C
A
G
G
C
G
G
A
A
C
A
A
T
A
T
C
T
G
G
A
G
A
T
C
A
A
C
C
C
A
G
T
G
C
C
A
C
G
G
G
C
C
G
G
13650 |
var(13611):[T:0.0053]
|
var(13645):[A:0.0989]
F N Q A E Q Y L E I N P V P R A G 536
A
C
A
G
A
A
G
T
T
C
A
G
G
G
A
G
G
C
C
T
G
G
A
T
G
C
A
G
T
T
C
T
G
G
T
C
A
G
A
G
A
C
G
C
T
C
C
C
C
A
13700
Q K F R E A W M Q F W S E T L P 552
G
C
A
A
G
A
T
A
C
A
A
C
A
G
T
G
G
C
A
C
C
A
G
A
A
G
C
A
G
A
A
G
A
A
C
A
G
G
A
A
G
G
C
C
C
A
G
G
A
G
13750 |
var(13706):[G:0.0110]
S K I Q Q W H Q K Q K N R K A Q E 569
G
A
C
C
T
C
T
G
A
G
G
C
C
A
G
G
C
C
T
G
A
A
C
C
T
T
C
T
T
G
G
C
T
G
G
G
G
C
A
A
A
C
C
A
C
T
C
T
T
C
13800 |
UTR
D L 571
A
A
G
T
G
G
T
G
G
C
A
G
A
G
T
C
C
C
A
G
C
A
C
G
G
C
A
G
C
C
C
G
C
C
T
C
T
C
C
C
C
C
T
G
C
T
G
A
G
A
13850
C
T
T
T
A
A
T
C
T
C
C
A
C
C
A
G
C
C
C
T
T
A
A
A
G
T
G
T
C
G
G
C
C
G
C
T
C
T
G
T
G
A
C
T
G
G
A
G
T
T
13900
A
T
G
C
T
C
T
T
T
T
G
A
A
A
T
G
T
C
A
C
A
A
G
G
C
C
G
C
C
T
C
C
C
A
C
C
T
C
T
G
G
G
G
C
A
T
T
G
T
A
13950 |
REPEAT
C
A
A
G
T
T
C
T
T
C
C
C
T
C
T
C
C
C
T
G
A
A
G
T
G
C
C
T
T
T
C
C
T
G
C
T
T
T
C
T
T
C
G
T
G
G
T
A
G
G
14000
T
T
C
T
A
G
C
A
C
A
T
T
C
C
T
C
T
A
G
C
T
T
C
C
T
G
G
A
G
G
A
C
T
C
A
C
T
C
C
C
C
C
A
G
G
A
A
G
C
C
14050
T
T
C
C
C
T
G
C
C
T
T
C
T
C
T
G
G
G
C
T
G
T
G
C
G
G
C
C
C
C
G
A
G
T
C
T
G
C
G
T
C
C
A
T
T
A
G
A
G
C
14100
A
C
A
G
T
C
C
A
C
C
C
G
A
G
G
C
T
A
G
C
A
C
C
G
T
G
T
C
T
G
T
G
T
C
T
G
T
C
T
C
C
C
C
C
T
C
A
G
A
G
14150
G
A
G
C
T
C
T
C
T
C
A
A
A
A
T
G
G
G
G
A
T
T
A
G
C
C
T
A
A
C
C
C
C
A
C
T
C
T
G
T
C
A
C
C
C
A
C
A
C
C
14200 |
var(14187):[:0.0054]
A
G
G
A
T
C
G
G
G
T
G
G
G
A
C
C
T
G
G
A
G
C
T
A
G
G
G
G
G
T
G
T
T
T
G
C
T
G
A
G
T
G
A
G
T
G
A
G
T
G
14250
A
A
A
C
A
C
A
G
A
A
T
A
T
G
G
G
A
A
T
G
G
C
A
G
C
T
G
C
T
G
A
A
C
T
T
G
A
A
C
C
C
A
G
A
G
C
C
T
T
C
14300
A
G
G
T
G
C
C
A
A
A
G
C
C
A
T
A
C
T
C
A
G
G
C
C
C
C
C
A
C
C
G
A
C
A
T
T
G
T
C
C
A
C
C
C
T
G
G
C
C
A
14350
G
A
A
G
G
G
T
G
C
A
T
G
C
C
A
A
T
G
G
C
A
G
A
G
A
C
C
T
G
G
G
A
T
G
G
G
A
G
A
A
G
T
C
C
T
G
G
G
G
C
14400
G
C
C
A
G
G
G
G
A
T
C
C
A
G
C
C
T
A
G
A
G
C
A
G
A
C
C
T
T
A
G
C
C
C
C
T
G
A
C
T
A
A
G
G
C
C
T
C
A
G
14450 |
var(14401):[A:0.0053]
A
C
T
A
G
G
G
C
G
G
G
A
G
G
G
G
T
C
T
C
C
T
C
C
T
C
T
C
T
G
C
T
G
C
C
C
A
G
T
C
C
T
G
G
C
C
C
C
T
G
14500 |
var(14459):[A:0.0054]
C
A
C
A
A
G
A
C
A
A
C
A
G
A
A
T
C
C
A
T
C
A
G
G
G
C
C
A
T
G
A
G
T
G
T
C
A
C
C
C
A
G
A
C
C
T
G
A
C
C
14550
C
T
C
A
C
C
A
A
T
T
C
C
A
G
C
C
C
T
G
A
C
C
C
T
C
A
G
G
A
C
G
C
T
G
G
A
T
G
C
C
A
G
C
T
C
C
C
A
G
C
14600
C
C
C
A
G
T
G
C
C
G
G
G
T
C
C
T
C
C
C
T
C
C
C
T
T
C
C
T
G
G
C
T
T
G
G
G
G
A
G
A
C
C
A
G
T
T
T
C
T
G
14650
G
G
G
A
G
C
T
T
C
C
A
A
G
A
G
C
A
C
C
C
A
C
C
A
A
G
A
C
A
C
A
G
C
A
G
G
A
C
A
G
G
C
C
A
G
G
G
G
A
G
14700
G
G
C
A
T
C
T
G
G
A
C
C
A
G
G
G
C
A
T
C
C
G
T
C
G
G
G
C
T
A
T
T
G
T
C
A
C
A
G
A
G
A
A
A
A
G
A
A
G
A
14750 |
var(14721):[T:0.0549]
G
A
C
C
C
A
C
C
C
A
C
T
C
G
G
G
C
T
G
C
A
A
A
A
G
G
T
G
A
A
A
A
G
C
A
C
C
A
A
G
A
G
G
T
T
T
T
C
A
G
14800
A
T
G
G
A
A
G
T
G
A
G
A
G
G
T
G
A
C
A
G
T
G
T
G
C
T
G
G
C
A
G
C
C
C
T
C
A
C
A
G
C
C
C
T
C
G
C
T
T
G
14850 |
REPEAT
C
T
C
T
C
C
C
T
G
C
C
G
C
C
T
C
T
G
C
C
T
G
G
G
C
T
C
C
C
A
C
T
T
T
G
G
C
A
G
C
A
C
T
T
G
A
G
G
A
G
14900 |
var(14874):[T:0.0053]
C
C
C
T
T
C
A
A
C
C
C
G
C
C
G
C
T
G
C
A
C
T
G
T
A
G
G
A
G
C
C
C
C
T
T
T
C
T
G
G
G
C
T
G
G
C
C
A
A
G
14950
G
C
C
G
G
A
G
C
C
A
G
C
T
C
C
C
T
C
A
G
C
T
T
G
C
G
G
G
G
A
G
G
T
G
C
G
G
A
G
G
G
A
G
A
G
G
G
G
C
G
15000 |
var(14953):[T:0.0474]
|
var(14985):[T:0.0053]
|
var(14986):[A:0.0053]
|
var(14999):[A:0.0105]
G
G
C
A
G
G
A
A
C
C
G
G
G
G
C
T
G
C
G
C
G
C
A
G
C
G
C
T
T
G
C
G
G
G
C
C
A
G
A
G
T
G
A
G
T
T
C
C
G
G
15050 |
var(15026):[A:0.0106]
G
T
G
G
G
C
G
T
G
G
G
C
T
C
G
G
C
G
G
G
G
C
C
C
C
A
C
T
C
A
G
A
G
C
A
G
C
T
G
G
C
C
G
G
C
C
C
C
A
G
15100
G
C
A
G
T
G
A
G
G
G
C
C
T
T
A
G
C
A
C
C
T
G
G
G
C
C
A
G
C
A
G
C
T
G
C
T
G
T
G
C
T
C
G
A
T
T
T
C
T
C
15150
G
C
T
G
G
G
C
C
T
T
A
G
C
T
G
C
C
T
C
C
C
C
G
C
G
G
G
G
C
A
G
G
G
C
T
C
G
G
G
A
C
C
T
G
C
A
G
C
C
C
15200
T
C
C
A
T
G
C
C
T
G
A
C
C
C
T
C
C
C
C
C
C
A
C
C
C
C
C
C
G
T
G
G
G
C
T
C
C
T
G
T
G
C
G
G
C
C
G
G
A
G
15250
C
C
T
C
C
C
C
A
A
G
G
A
G
C
G
C
C
G
C
C
C
C
C
T
G
C
T
C
C
A
C
A
G
C
G
C
C
C
A
G
T
C
C
C
A
T
C
G
A
C
15300 |
var(15264):[T:0.0106]
C
A
C
C
C
A
A
G
G
G
C
T
G
A
G
G
A
G
T
G
C
G
G
G
T
G
C
A
C
A
G
C
G
C
G
G
G
A
C
T
G
G
C
A
G
G
C
A
G
C
15350