FCN3 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
GTCTGTGTCA GACCTCTTTC TGTGAATTTA CAAAATACAT ATATACACAC
50
CTCTAGCATT TTAAAAATAC AAAGTGGGAT AATGCTGTGC ATACTGTTTT
100
GCATTTTTGC CCCTCTCATT TTAGATCAGA TTCACCCTGT GAG
T
T
G
T
C
T
G
150 |
REPEAT
A
A
T
G
G
T
C
C
T
A
A
T
T
C
A
T
G
T
G
A
A
T
G
C
C
A
T
C
A
A
T
G
A
C
T
G
G
T
T
G
G
G
T
C
A
T
T
T
C
C
200
A
C
A
C
T
G
A
T
G
C
T
T
A
C
A
A
A
C
A
G
C
G
C
C
A
T
G
G
T
A
A
A
C
A
G
G
C
T
T
G
T
C
T
G
C
A
G
A
T
C
250
T
T
G
G
C
A
T
A
C
T
C
G
T
G
G
G
A
C
A
G
T
C
T
G
G
G
G
A
A
G
A
C
A
G
A
T
T
C
C
T
A
G
A
A
C
T
G
G
A
A
300 |
var(262):[T:0.01]
|
var(286):[C:0.02]
T
T
G
C
G
G
T
C
T
C
A
G
G
A
T
A
T
CCC TCTCGCGGAC ACATCCTGTC AGGCAAACAC
350
TGCCTCCACT TCCCCTGATA CCACTTGCAC CTCAGCCCTC TCCATAAGCA
400
CCAGGGAGGT GCAGAGGAGG CCTTGAGGGA GGGTTTCCTG AATGAGTGAA
450
TGAATGAGCC CTGCCTCTCC TCCCTTATCA CCTGAGGTCC CTCTCCAGCT
500
CAGGCCTGAT CCTTCACATC TGGACCCTGG CTGCTGCGTC CTCCCTGGCT
550
TCCCGGCCTC CAGGCCTTCC TACATGGGCT TCCCGCTCAA TTGGCGTACA
600
TTAGCAGCTG TTTCCTAAGC CTCACGGGAC TCAAGGTTGA GCATGGAGTC
650
AC
T
T
T
C
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
T
T
G
C
T
C
T
T
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
700 |
REPEAT
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
C
G
G
C
T
C
A
T
T
G
C
A
A
C
C
T
C
T
G
C
C
T
T
C
G
G
G
T
T
T
C
A
A
G
750 |
var(741):[A:0.03]
T
G
A
T
T
C
T
C
T
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
A
T
G
C
C
800
A
C
C
A
A
G
C
C
C
G
G
C
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
G
G
G
G
T
T
T
C
A
C
C
G
T
850 |
var(838):[A:0.01]
|
var(849):[A:0.01]
G
T
T
A
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
C
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
900
G
G
A
C
T
C
C
C
A
A
A
A
T
C
C
C
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
G
C
C
A
G
C
C
AG
950
AATCACTTTC TTAATGGTGC TTTTCCCTGG CGGGGGCATG GGGCTTGGGT
1000
AAAACTCTGT TGCTCTCAGC ATATAAGTGG CCAAGAGAAC AGAAGTCACG
1050
TCCCATCACT GGGCCTCAGT TTCTCTTTCC TTATTCATTT AACTCTTTCT
1100
TACTGAGCAC CCATTTTGTA CCAGGCCCAT AATGCAATAA TAAGGATTAA
1150
TAGCAAGTCC ATGTGAGGAT CGGAGGTGAC GTCAGTATGA CGCTGGAATG
1200
CAGTAGATGC CCAGGAAATG GTAGCAGTTG TCACTATTCA TAGCATTGAC
1250
AAGGA
T
C
A
G
G
G
A
A
G
G
A
T
T
C
C
C
A
G
T
G
G
A
G
A
T
G
G
C
T
G
T
A
G
A
G
C
T
A
G
A
C
C
T
T
C
1300 |
REPEAT
A
T
G
G
A
C
A
G
A
T
G
G
G
G
C
T
T
CAC AGGTAGAGA
C
GACTGTGAAT GTAGAGGTCT
1350 |
var(1330):[T:0.01]
GGAGAGATGG CTGGGGAGCC CTGGAAGCCA GGATCAGAAG TTGGACTCTT
1400
TCAGT
G
T
G
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
T
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
1450 |
REPEAT
G
T
G
G
G
T
G
G
A
T
C
A
C
C
T
A
A
G
G
T
C
A
G
G
A
T
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
1500 |
NOT SCANNED
G
T
G
A
A
A
C
C
C
C
T
T
C
T
A
T
A
C
T
A
A
A
A
A
A
A
A
A
A
A
T
A
C
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
T
1550
T
G
G
T
G
G
C
G
T
G
C
A
C
C
C
A
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
1600
A
T
C
A
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
T
T
G
G
T
T
G
C
A
T
T
G
A
G
C
T
G
A
G
A
1650
G
C
A
C
G
C
C
A
T
T
G
C
A
T
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
C
G
T
C
T
C
A
A
1700
A
A
A
A
A
C
A
A
A
A
A
A
A
C
A
A
A
A
A
A
C
A
A
A
A
A
A
C
A
A
A
A
A
G
A
T
G
T
T
G
G
A
C
T
C
C
A
T
C
C
1750
T
G
G
T
T
G
G
A
T
A
G
G
G
C
A
G
G
G
A
T
A
A
T
G
C
C
C
T
T
T
C
T
C
T
C
T
G
G
G
G
C
T
G
A
A
G
G
A
G
G
1800
A
A
A
TACTCCC ACCCCCTGCT GGCTCCAGTC TGGGTGGGGT GTCCCTGGGG
1850
GACAATGGGA GGAAGTCTTG TTTCATGTCC TCCCACCAGC CTGGCCCCCT
1900
TATAATCTGG CATCCTTCCC CTGGTGGGCC C
A
G
C
A
A
G
A
T
G
G
A
T
C
T
A
C
T
G
T
1950 | Exon 1 |
UTR
M D L L 4
G
G
A
T
C
C
T
G
C
C
C
T
C
C
C
T
G
T
G
G
C
T
T
C
T
C
C
T
G
C
T
T
G
G
G
G
G
G
C
C
T
G
C
C
T
G
C
C
T
G
2000
W I L P S L W L L L L G G P A C L 21
A
A
G
A
C
C
C
A
G
G
A
A
C
A
C
C
C
C
A
G
C
T
G
C
C
C
A
G
GT GGGCACCTAG GGTGCCCTCC
2050
K T Q E H P S C P 30
TCACCAACCC ACTCCTCATT CCCTCGCTGG GTGTCCCCCC ACCAAGGCTC
2100
ATCAACCTCA AGGAGCAGGG TGGGAGTTTC ATAATCTGGG CTCTGCATGT
2150
AAATATATGC AAATGGATGC AAAGCACACG AAACCTTGCC AGCTCAGGAG
2200
ACAAGCATCC TGACAGTGGG AATCTGGGAG ACAGGAAGAG AACTGAAGAG
2250
GGGTCTGGAA GAGACAGTCT ACCCTGTGCC CACCCTGCCT GTGTCTCCCT
2300
GTAG
G
A
C
C
C
A
G
G
G
A
A
C
T
G
G
A
A
G
C
C
A
G
C
A
A
A
G
T
T
G
T
C
C
T
C
C
T
G
C
C
C
A
G
T
T
G
2350 | Exon 2
G P R E L E A S K V V L L P S C 46
T
C
C
C
G
G
A
G
C
T
C
C
A
G
G
A
A
G
T
C
C
T
G
G
G
G
A
G
A
A
G
G
G
A
G
C
C
C
C
A
G
G
T
C
C
T
C
A
A
G
2400
P G A P G S P G E K G A P G P Q 62
GTGAGAGGGG CTGGGGAGCG GGCTGGGATC TTGGGAATGG GGAAGGCAGG
2450
AAAGTAGCAA TTTTTGTCTG TGCTGAGGGG CCACGACAAA GGAGCAAGGA
2500
ACCTACTCTG TGCCAGCTCC AGGCTGGGCA CCCGGC
A
T
C
C
T
A
A
G
A
T
C
A
A
C
2550 |
REPEAT
T
C
T
G
C
C
A
G
G
T
A
A
G
T
G
G
T
T
T
C
A
T
C
C
C
C
A
T
T
C
T
G
C
T
G
A
G
G
A
G
G
A
A
A
G
G
G
A
G
G
2600
T
T
C
A
G
A
G
A
G
G
A
T
A
A
G
A
T
A
T
T
T
G
C
C
C
G
C
A
A
T
C
A
C
A
A
A
G
T
G
A
G
T
G
A
A
G
G
G
T
G
2650
A
A
A
C
T
G
G
G
A
T
T
T
G
A
A
C
C
T
C
T
G
G
C
T
C
C
A
A
G
T
C
TCTTGTTTC TTTTTGGTCC
2700
TGGGCATGGG GTGGGACTCA GGAAATCTCT GCCTTTGTGA TTTCAG
G
G
C
C
2750 | Exon 3
G P 64
A
C
C
T
G
G
A
C
C
A
C
C
A
G
G
C
A
A
G
A
T
G
G
G
C
C
C
C
A
A
G
G
G
T
G
A
G
C
C
A
G
GTGAGTAAG
2800
P G P P G K M G P K G E P 77
TGGGGCTGGA GGCCTCCCCG CTTTCTTTGC CTCTGTCCCT GGACTCTAGG
2850
GTGGGATCTC TGCTTGGCTG CTGTGCCTAT GATGGCTCTC TCACAGGGG
A
2900 |
var(2900):[G:0.02]
ATGGATGGCT GGGAGGAGTG GGAAGGATTA GGAGAAGGGC CTGGCTACCC
2950
TATGATGGCC CTCCTATTGG GGATGGAGGG CTGGGAGGAG TGGGGAGGAT
3000
TAGGAGAAGG GCCTGGGTAC CCTATGAAGG CCCTCCTACA GGGT
T
TGGAA
3050 |
var(3045):[A:0.01]
GGC
T
GGGAGG AGTGGAGAGG ATTAGGAGAA GGGCCTGGGT ACCCTATGAT
3100 |
var(3054):[C:0.01]
GGCCCTCCTA CAGGGTATGG AAGGCTGGGA GGAGTGGGAA GGATTCGGAA
3150
AAGGGCCTGG GTACCGGCTC CACTGGTGGC TCAGCGCTGG GGTGCTGAGA
3200
CATCAGAGCC AACACTCATC CCTTCTCTGG GGCAG
G
A
G
A
T
C
C
A
G
T
G
A
A
C
C
3250 | Exon 4
G D P V N 82
T
G
C
T
C
C
G
G
T
G
C
C
A
G
G
A
A
G
GT GAGGCAGCCC TTGCAGGAGC CAGGAACTTG
3300
L L R C Q E 88
GGATCACATG GTGTTGGGTG TTGGCAGACC CCCAAGTGTG GCCAAGATCC
3350
TCCCCACAGC CTCCTCAGAA CCCTTCTTCA GGGACCTGAA GGAGCCAAGA
3400
GGGTCCCTAG GGTCCCACAC TTGTTCCAGT GCCTGGGGGT GGGGGTCAGG
3450
GAATAACCTG GGCACCACCC CAGTCCATCT CCCCT
T
TCCC AG
G
C
C
C
C
A
G
A
3500 |
var(3486):[C:0.01]
| Exon 5
G P R 91
A
A
C
T
G
C
C
G
G
G
A
G
C
T
G
T
T
G
A
G
C
C
A
G
G
G
C
G
C
C
A
C
C
T
T
G
A
G
C
G
G
C
T
G
G
T
A
C
C
A
3550
N C R E L L S Q G A T L S G W Y H 108
T
C
T
G
T
G
C
C
T
A
C
C
T
G
A
G
G
G
C
A
G
G
G
C
C
C
T
C
C
C
A
G
T
C
T
T
T
T
G
T
G
A
C
A
T
G
G
A
C
A
3600 |
var(3574):[:0.02]
L C L P E G R A L P V F C D M D 124
C
C
G
A
G
G
G
G
G
G
C
G
G
C
T
G
G
C
T
G
GTGAGTGTCT GAGAAATGGG CTAACAGGCC
3650
T E G G G W L 131
AGGCCCACTG G
T
CACTTCTC CCCCTTGGCC CCTAGGGGAG CCAGAACCCA
3700 |
var(3662):[C:0.01]
CCAGAGCAAG GCATTTCCTA GAGGAATTC
A
CTGACAAATG TTTAGT
G
A
G
C
3750 |
var(3730):[G:0.01]
|
REPEAT
C
C
C
C
A
A
T
G
G
G
A
C
C
T
G
A
A
G
A
A
G
T
A
T
G
A
G
G
G
C
T
T
C
A
C
A
G
A
G
G
A
G
G
T
G
C
C
A
T
T
3800
T
G
A
A
A
A
G
A
C
C
T
TA
A
G
T
T
G
A
G
T
G
C
A
G
T
A
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
3850 |
REPEAT
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
A
G
A
G
A
A
T
T
G
C
C
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
3900
C
A
G
T
G
A
G
C
C
G
A
G
T
T
C
T
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
A
A
A
G
A
G
T
G
A
3950
A
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
TAGGGTAG GGAGGGGCAT
4000 |
var(3981):[T:0.02]
TCCAGCTAGA AGTAAAGATA AACTCAGGGA GGCAGCAGAG TAAAAGGTTT
4050
GCAGGGAACG CGTGAGTGAG CTGAGAGCAG GCGTGGGTGT CGGCTAAAGT
4100
CTGCCGGCAC TGACGGAACA TGGATTGAGG ACCTCTGTAA AGGCCAGTTC
4150
ATGGAAGGCA CTAAATGATC AACTTAAGAA GTGTGCAGC
G
CGCCCAGACG
4200 |
var(4190):[A:0.01]
CGGTGGTT
G
G
C
T
G
G
A
C
G
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
A
T
G
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
4250 |
REPEAT
|
var(4235):[A:0.24]
G
A
G
G
C
C
A
A
G
G
C
G
G
G
C
A
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
A
G
A
G
T
T
C
G
A
G
A
T
C
A
G
C
C
T
G
4300
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
T
T
A
C
T
A
A
A
A
A
T
A
T
A
A
A
A
A
T
T
A
G
C
C
A
G
G
4350
C
G
T
G
A
T
G
G
T
G
G
G
C
G
C
C
T
G
T
A
A
T
C
C
A
A
G
T
T
A
T
T
C
A
G
G
A
G
G
C
T
G
A
G
C
T
G
G
G
A
4400
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
C
G
G
A
G
G
T
G
G
T
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
T
G
A
G
T
C
4450 |
NOT SCANNED
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
G
T
G
A
G
A
C
T
C
T
G
T
C
T
T
A
A
A
A
A
A
A
A
A
A
4500
A
A
A
A
A
A
A
A
G
A
A
G
A
G
T
G
T
G
C
A
G
G
G
C
A
A
T
G
G
G
T
A
G
C
C
C
C
A
G
G
A
G
A
G
T
T
T
T
A
A
4550 |
REPEAT
G
C
A
G
G
G
G
A
G
G
G
G
C
C
A
A
G
T
A
G
A
A
C
T
T
C
T
G
T
T
T
T
A
A
A
A
A
G
A
T
G
A
T
T
C
G
G
G
C
T
4600
A
C
A
C
C
A
T
G
A
A
A
G
A
T
G
C
A
C
T
G
C
A
T
T
G
G
G
G
G
A
C
C
A
G
T
G
G
A
G
G
C
A
G
G
G
A
C
A
T
G
4650
G
T
T
T
A
G
G
A
A
G
A
C
A
G
C
A
A
G
G
A
G
C
C
A
G
G
C
A
G
T
A
A
A
G
A
C
A
G
T
G
G
A
G
C
A
G
G
C
C
T
4700 |
REPEAT
G
A
C
A
C
A
G
T
A
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
T
G
G
4750
G
T
G
G
A
T
T
G
C
C
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
C
A
A
4800
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
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
A
G
G
4850
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
T
G
C
A
G
A
A
A
G
C
T
A
A
G
G
C
A
C
G
A
G
A
A
T
T
G
C
T
T
G
A
A
4900
C
C
A
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
A
C
A
C
C
A
C
T
G
T
A
C
T
C
C
A
G
4950
C
C
T
G
G
T
A
A
C
A
G
G
G
G
G
T
G
A
G
A
C
T
C
T
A
T
C
T
C
A
A
A
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
A
T
5000
A
A
G
A
C
A
G
T
G
G
A
G
C
A
A
T
G
G
A
A
A
T
A
G
A
A
G
T
A
C
T
T
A
G
G
T
T
G
A
C
A
A
C
T
C
T
A
T
A
G
5050 |
REPEAT
G
A
C
C
T
G
G
G
G
C
C
T
A
C
T
T
G
G
C
T
T
G
G
A
G
G
G
G
G
A
G
G
T
G
G
A
A
G
A
C ATCAGGGTAA
5100
GGCCAGGGGT CCAGCTTGGG CTGTGGGAGT GGCCTCTCTA ATGTAAAATA
5150
TCTTG
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
A
G
A
C
G
G
A
G
T
C
T
T
G
C
T
C
T
G
C
5200 |
REPEAT
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
5250
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
G
T
T
C
T
T
G
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
A
A
C
5300
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
G
G
C
T
A
A
T
A
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
5350
C
G
G
G
A
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
T
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
5400
G
A
T
C
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
A
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
5450 |
var(5414):[T:0.02]
C
C
A
A
G
C
G
T
G
G
C
C
A
A
A
T
A
TCT TGGTTCTTAT AGTAAATGAA ATTGGGTTAT
5500 |
var(5459):[:0.63]
TTTGACTGAC ACCCAGCAGC GCTGGCCATC TCCTGTGGGT GGGGACAGTG
5550
TTTTGTCAAT TCAGTCTTCC CAGGGCTTGC AAGGCTGTGG CATGAAGTTG
5600
AGTGTCAGTA AAAGTTAACA AGGGAATGTA GAGTTCATAG AAATATTCAA
5650
AGCTAACTTG AAGGATCCCC ATTTTATCAA CAGGCCCCAA TCCAAAGAGA
5700
GAGTGGGTAT CCACCCACCC CTCACAGTTC CTGCACCCTC AGCTGCCAGT
5750
GCCCAGCCTG GAGTAATAGC TGCTGTGCCC C
C
CCTCCCCC AG
G
T
G
T
T
T
C
A
5800 |
var(5782):[G:0.03]
| Exon 6
V F Q 134
G
A
G
G
C
G
C
C
A
G
G
A
T
G
G
T
T
C
T
G
T
G
G
A
T
T
T
C
T
T
C
C
G
C
T
C
T
T
G
G
T
C
C
T
C
C
T
A
C
A
5850
R R Q D G S V D F F R S W S S Y 150
G
A
G
C
A
G
G
T
T
T
T
G
G
G
A
A
C
C
A
A
G
A
G
T
C
T
G
A
A
T
T
C
T
G
G
C
T
G
G
G
A
A
A
T
G
A
G
A
A
T
5900
R A G F G N Q E S E F W L G N E N 167
T
T
G
C
A
C
C
A
G
C
T
T
A
C
T
C
T
C
C
A
G
G
GTGAGTTC CCAGCAGGGT CCTGGAGTCT
5950
L H Q L T L Q 174
GGGGGTTACT GTCTGCCATC CTGAATCCCT GCCCCACCCC CAAGAACTGA
6000
GGATTCCTCC ATCCCTGCCT CCCCTTCTTT CCAG
G
T
A
A
C
T
G
G
G
A
G
C
T
G
C
G
6050 | Exon 7
G N W E L R 180
G
G
T
A
G
A
G
C
T
G
G
A
A
G
A
C
T
T
T
A
A
T
G
G
T
A
A
C
C
G
T
A
C
T
T
T
C
G
C
C
C
A
C
T
A
T
G
C
G
A
6100
V E L E D F N G N R T F A H Y A 196
C
C
T
T
C
C
G
C
C
T
C
C
T
C
G
G
T
G
A
G
G
T
A
G
A
C
C
A
C
T
A
C
C
A
G
C
T
G
G
C
A
C
T
G
G
G
C
A
A
G
6150
T F R L L G E V D H Y Q L A L G K 213
T
T
C
T
C
A
G
A
G
G
G
C
A
C
T
G
C
A
G
G
T
G
A
G
T
G
A
G
C
C
T
A
A
G
G
G
G
A
G
C
A
G
A
G
G
A
A
G
G
A
6200 |
REPEAT
F S E G T A 219
G
G
C
T
G
G
A
T
C
C
T
T
T
C
C
C
A
G
T
G
C
T
G
C
C
A
C
T
G
C
C
C
C
C
A
T
G
A
A
T
G
A
C
C
C
A
G
G
G
C
6250
A
A
T
C
C
T
G
T
C
T
C
C
T
C
T
G
T
G
G
G
C
C
T
T
A
G
T
T
T
C
C
G
C
A
T
C
T
G
A
G
A
A
A
T
G
G
C
A
A
T
6300 |
var(6282):[T:0.01]
C
A
T
G
A
A
A
C
A
G
G
A
T
G
G
T
G
C
A
A
C
A
G
T
G
A
A
G
A
A
T
T
T
G
G
G
A
T
C
T
G
G
A
G
G
C
A
A
A
C
6350 |
REPEAT
A
G
A
C
C
T
G
A
G
T
T
T
G
A
A
T
C
C
A
T
C
T
C
T
G
C
C
A
T
T
T
A
G
T
A
C
T
T
A
T
G
T
G
A
C
C
T
T
G
G
6400
G
C
A
A
G
T
C
C
T
A
C
C
C
C
T
C
C
A
C
T
G
A
G
C
C
T
C
A
G
T
T
T
C
C
T
C
C
T
C
T
A
T
A
A
A
A
T
G
G
G
6450 |
var(6419):[A:0.25]
CAGGGA
G
G
C
C
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
C
C
C
T
A
G
C
A
C
T
C
T
G
G
G
A
6500 |
REPEAT
G
G
C
C
G
A
G
G
C
G
G
G
C
A
G
A
T
A
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
A
C
C
C
A
A
C
C
T
G
G
C
6550
C
A
A
C
A
T
G
G
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
A
T
T
A
G
C
C
G
G
G
6600 |
var(6564):[A:0.25]
C
G
T
G
G
T
G
G
A
G
G
G
T
G
C
C
T
G
T
A
A
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
G
A
6650
G
A
A
T
C
A
C
T
T
A
A
A
T
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
C
G
A
G
C
C
A
A
G
A
G
A
G
T
G
T
C
6700
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
A
T
C
T
C
A
G
A
A
A
A
A
A
A
A
6750 |
var(6704):[A:0.02]
A
A
A
A
A
GGCGG GGGGAGCGCA GGGAGGCAAG GAGGAAGTTT TGGGTGCCGC
6800
CTGAGGCTCT GTTGAGTGTT AGTGTTCTCT GCTTTGGAAG AGGAACCACG
6850
GAAGTCTTCT TTCAGAGAAA CAGTGACTAT TGGGGAGAGA TTTAAAAGAG
6900
GGAAGTGGTT ATGAGGGAGT GCCTC
A
GGGA ACCACCTTTC CTGGCCAGGC
6950 |
var(6926):[G:0.02]
ACCTAAGAGG TTCCTCCCAG CTTTTCCTAG CAGAGTTGCT CAGACTGGAT
7000
GGGAGCTGAG AGAAGACAAA GGAGCTAGAG GGGGGCCGGG GATTCTG
G
A
G
7050 |
REPEAT
G
G
G
G
T
A
A
G
A
C
A
G
G
G
G
G
A
A
A
A
G
C
T
G
G
G
A
G
C
T
T
T
G
G
A
G
C
C
A
G
A
C
A
G
T
C
C
C
G
A
7100
G
T
T
C
A
A
G
T
C
C
T
G
C
C
G
C
T
G
C
T
T
C
A
A
C
C
A
G
C
C
G
A
G
T
A
A
C
C
C
T
G
C
G
C
A
A
A
C
A
A
7150
C
C
T
G
G
C
C
C
C
T
T
G
G
T
G
TTGCT CGTGGGGCCT GATAAAATTC AACTCTTAGT
7200
TGCTCTGAGA CTCCCATGGC ATTATATCTC CAAAGGTGCC AGGC
A
TGGTG
7250 |
var(7245):[G:0.01]
CTGGGCACCA AGGTGCTTTC CATCCCTTCC CTGCTAG
G
G
G
A
T
T
C
C
C
T
G
A
G
7300 | Exon 8
G D S L S 224
C
C
T
C
C
A
C
A
G
T
G
G
G
A
G
G
C
C
C
T
T
T
A
C
C
A
C
C
T
A
T
G
A
C
G
C
T
G
A
C
C
A
C
G
A
T
T
C
A
A
7350
L H S G R P F T T Y D A D H D S 240
G
C
A
A
C
A
G
C
A
A
C
T
G
T
G
C
A
G
T
G
A
T
T
G
T
C
C
A
C
G
G
T
G
C
C
T
G
G
T
G
G
T
A
T
G
C
A
T
C
C
7400 |
var(7379):[T:0.01]
S N S N C A V I V H G A W W Y A S 257
T
G
T
T
A
C
C
G
A
T
C
A
A
A
T
C
T
C
A
A
T
G
G
T
C
G
C
T
A
T
G
C
A
G
T
G
T
C
T
G
A
G
G
C
T
G
C
C
G
C
7450
C Y R S N L N G R Y A V S E A A A 274
C
C
A
C
A
A
A
T
A
T
G
G
C
A
T
T
G
A
C
T
G
G
G
C
C
T
C
A
G
G
C
C
G
T
G
G
T
G
T
G
G
G
C
C
A
C
C
C
C
T
7500
H K Y G I D W A S G R G V G H P 290
A
C
C
G
C
A
G
G
G
T
T
C
G
G
A
T
G
A
T
G
C
T
T
C
G
A
T
A
G
G
G
C
A
C
T
C
T
G
G
C
A
G
C
C
A
G
T
G
C
C
7550 |
UTR
Y R R V R M M L R 299
C
T
T
A
T
C
T
C
T
C
C
T
G
T
A
C
A
G
C
T
T
C
C
G
G
A
T
C
G
T
C
A
G
C
C
A
C
C
T
T
G
C
C
T
T
T
G
C
C
A
7600
A
C
C
A
C
C
T
C
T
G
C
T
T
G
C
C
T
G
T
C
C
A
C
A
T
T
T
A
A
A
A
A
T
A
A
A
A
T
C
A
T
T
T
T
A
G
C
C
C
T
7650
T
T
C
A
A
G
A
C
T
C
T
T
C
C
A
G
T
T
A
C
T
G
G
G
A
A
A
A
A
A
C
C
CTAGAGGG CAGAG
C
A
G
G
G
7700 |
REPEAT
A
C
A
C
A
A
G
T
T
T
C
A
G
C
T
C
C
A
T
T
C
A
G
G
G
A
A
G
A
A
T
T
T
C
C
T
T
C
C
A
G
T
C
A
G
G
A
A
G
A
7750
T
G
G
A
A
A
G
G
A
C
A
G
C
C
T
C
T
A
A
A
G
T
A
G
T
G
A
G
G
C
T
T
C
T
G
T
C
T
C
T
G
G
A
G
G
T
G
T
G
C
7800
A
A
G
A
C
A
A
G
G
C
C
A
G
A
G
G
G
G
C
A
T
A
T
A
G
T
G
G
A
A
G
G
A
C
T
G
G
A
G
G
A
G
A
T
T
C
A
A
G
C
7850
A
T
C
C
A
T
T
G
A
C
A
A
T
T
T
C
C
T
G
A
G
G
C
T
C
T
C
T
G
G
G
T
C
C
TGCAAG TGGATGGCTT
7900
TGTGGCAGGA ATTGCACAAT TGCACAGCTT T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
7950 |
REPEAT
|
var(7935):[:0.06]
G
T
T
T
G
T
T
T
T
T
G
A
G
A
C
G
C
A
G
T
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
8000 |
var(7992):[A:0.06]
G
G
C
A
C
C
A
T
C
C
T
G
G
C
T
C
A
C
T
G
C
A
A
G
C
T
C
T
G
C
C
T
C
C
C
A
G
G
T
T
C
A
C
G
C
C
A
T
T
C
8050
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
A
A
C
T
A
C
A
G
G
C
A
C
C
C
G
T
T
A
C
C
A
C
G
8100
C
C
C
G
G
C
G
A
A
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
T
C
A
T
G
T
T
A
8150
G
C
C
A
G
G
A
T
G
G
T
C
T
C
A
A
T
C
T
C
C
T
G
A
C
C
T
C
A
T
G
A
T
C
T
G
C
C
C
T
C
C
T
C
G
G
C
C
T
C
8200
C
C
A
A
A
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
T
G
C
G
C
C
C
G
G
C
C
GC
T
T
T
T
T
T
8250 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
C
T
G
C
C
C
A
G
G
C
T
8300 |
var(8264):[C:0.03]
G
G
A
G
T
G
C
A
A
T
G
AGCCAGAGG GGCATACAGT GGAAGGATTA GAGGAGAT
C
C
8350 |
var(8349):[T:0.41]
AAGCATCCAT TGACAATTTC CCGAGGCCCT CTGGGTCCTG CAAGTGGATG
8400
GCTTTGTGGC AGGAATTGCA CAATTGCATA GC
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
8450 |
REPEAT
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
C
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
A
C
G
A
T
C
T
8500 |
var(8455):[G:0.05]
C
C
A
C
T
C
A
C
C
G
C
A
A
C
C
T
C
C
A
T
C
T
C
C
C
A
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
8550
G
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
C
A
C
A
G
G
C
A
G
G
T
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
C
T
T
8600
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
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
C
T
G
G
8650
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
G
T
G
A
T
C
C
A
C
T
C
A
T
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
G
G
8700
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
C
C
C
T
G
G
C
T
GG GAATTGCACA GCTTTCTCAG
8750 |
var(8720):[A:0.09]
CCTGTCGGTT GCCCATGCCT GTCCTTTGTA AGTTGTCTGT TTTCCACTCC
8800
AGCCTCTGTT GCAGGCCAAG TTCTCAAACT CTACCACTTC CTGCCTATCT
8850
CATTGGGTGT CAGTTCGAAT CCAAGGTCAA ACCA
A
G
G
A
A
G
G
T
A
C
C
T
T
T
T
T
8900 |
REPEAT
C
T
T
C
C
A
C
A
A
G
G
C
A
A
C
A
G
G
G
C
A
A
T
G
A
A
A
C
A
G
C
C
A
T
T
G
A
G
T
A
G
C
A
T
T
T
A
A
G
C
8950
A
G
T
T
T
A
T
T
T
G
C
C
C
A
A
A
G
C
C
A
C
A
T
T
C
T
A
G
T
A
A
G
T
G
G
C
A
G
A
A TTA
A
A
T
A
G
T
T
9000 |
REPEAT
A
A
G
A
G
T
C
T
G
A
C
A
G
G
C
G
G
T
C
C
T
G
G
G
T
T
T
G
C
A
C
C
C
T
G
C
T
G
T
C
A
T
G
T
G
C
T
G
A
G
9050
T
G
A
T
C
C
T
G
G
A
C
A
A
G
T
T
A
T
T
C
A
A
C
T
T
AAGTC CCCAGTTCTT GGTTTCAGGG
9100
TCCACTGAGG CTTCTACCAG GTTGCTGCCT CACTCATTAA TTCACACAAG
9150
AAAGTTGGGG ACTCTTGGGG ATTTGAAGCT GAGAAGCTGC TGTAGTGCAA
9200
AGGGCTGGGG TTGACTCCTT CAAGGGGTGG CTAAAGAAAT GTTTAGAGTT
9250
GTTTAGAGTA GGAAGTGCTT CTCAGGTC
C
C ATGGCCACGT TCTGCCTAGA
9300 |
var(9279):[T:0.01]
AGTCAAAGGT CAGCGGGGGT CCACAGCAGG TTGGGTCCTG GGGAAAGCAG
9350
CCCCCTAGTG ACAGTTAAGG CTCAGATGCC AAGTCCCACT CCAGGACTGA
9400
AGGCTTTCGG GCAAGCGGCC TAGGGTGTAG GTTTCCCCCA TCCCAGTCCC
9450
TCCCTGCCTG CGCTCACTGG GCCCGGGAGG ACACCCATTG TTCATCATGC
9500
TCTGCGCACC CTGATGTCTC TAGAGAGCCA TTCATTCAAC AGATACCTGC
9550
AGAGCAGGGC CTGCATATCG AACCTTTTCC CTAGCCCTGG CCTCCTCACA
9600
CATTTTATGT GCACTTGCTG TGAGCAGT