IL3RA 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
C
G
G
G
C
T
G
C
A
A
G
G
T
G
G
A
G
G
C
T
C
T
G
G
G
G
A
A
G
G
G
C
T
G
A
G
G
T
T
G
G
G
G
T
G
G
A
A
T
T
50 |
NOT SCANNED
T
G
G
G
A
A
G
G
G
T
G
C
C
G
A
G
A
A
C
C
A
G
A
G
A
A
G
A
G
T
T
G
A
T
A
C
A
T
T
C
A
G
A
G
G
G
A
A
G
G
100
G
A
A
G
G
G
C
T
G
T
C
T
G
G
G
A
G
T
G
C
G
C
G
T
G
C
T
G
A
G
T
A
A
A
C
A
G
A
A
A
T
A
A
C
A
G
A
T
T
T
150
C
A
G
C
G
T
T
G
G
A
A
A
G
A
G
A
A
G
C
C
C
G
G
G
A
C
A
G
G
T
T
G
G
T
G
A
G
T
G
C
C
C
C
A
T
T
C
A
G
G
200
G
C
T
G
G
A
C
T
T
T
A
C
T
A
A
G
G
G
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
C
T
G
T
T
G
A
G
A
C
A
G
A
G
250 |
REPEAT
T
T
T
G
C
T
C
T
T
G
T
C
A
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
300
T
A
A
C
C
T
C
C
G
C
C
T
G
C
C
G
G
G
T
T
T
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
T
G
G
G
A
G
350
A
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
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
400
T
T
A
C
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
T
C
C
A
G
G
C
T
G
A
T
C
T
T
G
A
A
C
T
C
C
T
450
G
C
C
C
T
C
A
G
G
T
G
A
T
C
T
A
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
G
A
C
A
G
500
G
T
G
C
G
A
G
C
C
A
C
C
G
C
G
C
C
T
G
A
C
C
A
C
T
A
A
G
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
550 |
REPEAT
C
G
G
A
G
T
C
T
C
G
T
T
C
T
A
T
T
T
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
C
A
T
C
C
T
G
G
C
600
T
C
A
C
T
G
T
A
A
C
C
T
C
C
A
T
C
T
C
C
C
A
G
G
T
T
C
A
A
A
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
650
C
C
G
G
A
G
A
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
C
C
C
A
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
C
T
T
T
T
700
T
T
C
T
T
T
T
T
A
C
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
T
C
A
G
A
A
T
G
G
T
C
T
C
G
A
750
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
G
T
G
A
T
C
C
A
C
C
C
T
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
800
A
T
G
A
C
A
G
G
T
G
T
G
A
A
C
C
A
C
C
G
C
A
C
C
T
G
A
C
C
A
C
T
A
A
G
A
T
A
T
C
T
T
T
T
T
T
T
T
T
T
850 |
REPEAT
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
T
G
C
T
C
T
A
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
G
G
C
A
C
T
G
G
C
900
G
C
C
A
T
C
C
T
G
G
C
T
C
A
C
T
G
T
A
A
C
C
T
C
T
C
T
C
C
C
A
G
G
T
T
C
A
A
A
C
T
A
T
T
C
T
C
C
T
G
950
C
C
T
C
A
G
C
C
T
C
C
A
G
A
G
A
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
C
G
C
C
T
G
G
1000
C
T
A
A
T
T
T
T
T
A
A
A
T
T
T
T
T
A
C
T
A
G
A
G
A
C
G
G
G
C
T
T
C
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
A
T
1050
G
G
T
C
T
C
A
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
G
C
C
C
T
C
A
T
C
G
G
C
C
T
C
C
C
A
A
A
G
1100
T
G
C
T
G
G
G
A
T
G
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
A
C
C
C
C
T
G
A
C
C
ACTA AGATA
T
C
T
T
T
1150 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
C
G
A
G
T
C
T
T
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
1200
T
G
G
C
G
C
G
A
T
C
T
C
G
G
T
T
C
A
C
T
G
T
A
A
C
C
T
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
G
1250 |
var(1233):[A:0.32]
|
var(1239):[T:0.01]
A
T
T
C
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
T
C
A
C
C
A
C
1300 |
var(1278):[T:0.01]
|
var(1299):[G:0.06]
C
A
C
G
C
T
G
G
G
C
T
A
A
T
T
T
T
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
1350 |
var(1307):[T:0.23]
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
A
A
T
C
T
C
T
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
T
G
C
C
C
G
C
C
T
C
G
G
1400 |
var(1398):[G:0.05]
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
G
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
C
G
G
C
C
ACTA
1450 |
var(1436):[T:0.01]
|
var(1442):[G:0.03]
ACATATCTTT AATAAGATCT GTCATCTGAG ACCGGGGGC
C
ACCTCCCTGT
1500 |
var(1490):[T:0.08]
CTGGGTGCTG TTTCCCACGA GAC
A
GGGAGG AAACACAGGC AGGAGCCCCT
1550 |
var(1524):[G:0.09]
GGACACCAGC
G
TTC
A
CGCCT CCAAGGCTGA ATTTACTATG TCAGGAAGTT
1600 |
var(1561):[A:0.35]
|
var(1565):[G:0.05]
GCCCAACCCT GCCTGTATAG CCAGCAAGAA TTCTAATTAT AGCAAACAGA
1650
AACACTTGCA GAAAAAAAAA AAAATGAGAA CGGGAACATG ATAATTTTCA
1700
AAGAAAGAGT CTTTCTTTCA AGGAAA
G
T
C
A
G
G
T
T
C
A
T
G
G
T
T
A
C
G
A
A
G
C
T
G
1750 | Exon 1 |
UTR
C
T
G
A
C
C
C
C
A
G
G
A
T
C
C
C
A
G
C
C
C
G
T
G
G
G
A
G
A
G
A
A
G
G
G
G
G
T
C
T
C
T
G
A
C
A
G
C
C
C
1800
C
C
A
C
C
C
C
T
C
C
C
C
A
C
T
G
C
C
A
G
A
T
C
C
T
T
A
T
T
G
G
G
T
C
T
G
A
G
T
T
T
C
A
G
G
G
G
T
G
G
1850
G
G
C
C
C
C
A
G
C
T
G
G
A
G
G
T
T
A
T
A
A
A
A
C
A
G
C
T
C
A
A
T
C
G
G
G
G
A
G
T
A
C
A
A
C
C
T
T
C
G
1900 |
var(1884):[C:0.03]
G
T
T
T
C
T
C
T
T
C
G
G
G
G
A
A
A
G
C
T
G
C
T
T
T
C
A
G
C
G
C
A
C
A
C
G
G
G
A
A
G
A
T
A
T
C
A
G
A
A
1950
A
C
A
T
C
C
T
A
G
G
A
T
C
A
G
G
A
C
A
C
C
C
C
A
G
A
T
C
T
T
C
T
C
A
A
C
T
G
G
A
A
C
C
A
C
G
A
A
G
G
2000
C
T
G
T
T
T
C
T
T
C
C
A
C
A
C
A
G
C
A
C
T
T
T
G
A
T
C
T
C
C
A
T
T
T
A
A
G
GTA AGGTCCCC
C
C
2050 |
var(2005):[A:0.07]
|
var(2015):[T:0.01]
|
var(2018):[T:0.29]
|
var(2049):[T:0.25]
TCCAGGGTGG GATGAGGGAA AAAGAGGGCA GGCAGGGGAG GCGGTGGACT
2100
GTGGGTTCCC AAATCCAAGC TGGCAGACAC GGGGCATTGG CATGTAACAG
2150
GTTTCTGC
T
G
A
G
A
C
C
T
G
C
T
G
T
C
C
G
T
G
T
G
G
G
C
A
C
C
A
C
A
C
C
A
C
A
C
A
T
A
G
A
A
T
2200 |
REPEAT
G
A
C
C
C
G
G
T
A
C
C
A
G
A
G
A
A
G
T
A
T
G
T
T
T
G
C
G
A
T
C
T
C
A
T
T
C
A
C
C
C
T
T
T
T
G
T
A
A
G
2250
T
G
G
A
T
C
G
G
A
C
G
C
T
G
A
A
G
C
C
A
T
C
A
T
A
G
C
A
T
G
T
T
A
G
A
T
G
C
C
T
T
G
G
G
T
T
T
A
T
A
2300 |
var(2274):[C:0.01]
A
A
G
G
T
G
A
T
A
G
C
A
T
T
A
G
G
A
G
T
A
A
T
T
T
G
A
C
A
G
T
G
C
T
T
T
C
T
G
C
T
T
T
T
T
C
T
G
T
G
2350
T
G
C
T
T
G
C
T
A
G
A
A
A
A
T
G
T
A
C
A
C
A
C
C
T
A
C
A
C
A
T
G
G
C
T
A
G
A
G
T
T
C
T
C
T
G
T
T
T
A
2400
T
T
A
G
A
A
A
G
C
G
C
T
G
GTTCAGT TAGTCAATGA GCTCACGCCC AGGGCGAG
C
T
2450 |
var(2449):[T:0.02]
GACTGCCAGC CGGGGAGCCG CTTTTGGGGC TGGGACCCCA GCCTGCTTGT
2500
AGTGTTTCT
C
A
G
T
G
G
T
T
T
T
C
A
A
A
G
G
C
T
G
G
C
G
G
G
A
C
T
C
A
G
A
A
T
G
T
T
C
C
A
G
A
2550 |
REPEAT
T
G
G
C
T
G
G
T
G
A
A
A
C
C
T
C
A
G
G
T
CCC
T
C
C
T
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
G
T
A
G
C
C
A
2600 |
REPEAT
|
NOT SCANNED
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
G
T
A
C
C
C
A
T
C
T
A
T
A
G
A
T
G
A
A
T
G
G
A
A
A
A
A
T
A
T
A
2650
A
T
G
T
C
C
A
T
C
C
A
C
A
C
A
G
T
G
G
A
A
T
A
T
T
A
C
G
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
2700 |
REPEAT
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
A
T
C
T
A
T
2750
A
G
A
C
G
A
A
T
G
G
A
T
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
A
G
C
C
A
C
A
C
G
G
T
G
G
A
A
T
A
T
T
A
C
A
2800
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
2850 |
REPEAT
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
A
T
C
T
A
T
A
G
A
C
G
A
A
T
G
G
A
T
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
2900
A
G
C
C
A
C
A
C
A
G
T
G
G
A
A
T
A
T
T
A
C
A
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
2950 |
REPEAT
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
A
T
C
T
A
T
A
G
A
C
G
A
3000
A
T
G
G
A
T
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
A
G
C
C
A
C
A
C
A
G
T
G
G
A
A
T
A
T
T
A
C
A
C
A
G
C
C
A
3050
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
3100 |
REPEAT
C
C
T
C
A
T
A
C
C
C
A
T
C
T
A
T
A
G
A
C
G
A
A
T
G
G
A
T
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
A
G
C
C
A
C
3150
A
C
A
G
T
G
G
A
A
T
A
T
T
A
C
A
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
3200 |
REPEAT
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
A
T
C
T
A
T
A
G
A
T
G
A
A
T
G
G
A
G
3250
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
A
G
C
C
A
C
A
C
A
G
T
G
G
A
A
T
A
T
T
A
T
A
C
A
G
C
C
A
T
G
A
A
A
A
3300
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
G
T
3350 |
REPEAT
A
C
C
T
A
T
C
T
A
T
A
G
A
T
G
A
A
T
G
G
A
G
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
A
G
A
C
A
C
A
C
A
G
T
G
3400
G
A
A
T
A
T
T
A
T
A
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
3450 |
REPEAT
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
C
C
A
T
C
T
A
T
A
G
A
T
G
A
A
G
G
G
A
G
A
A
A
T
3500
A
T
A
A
T
G
T
C
C
A
T
C
C
A
C
A
C
A
G
T
G
G
A
A
T
A
T
T
A
C
A
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
3550 |
REPEAT
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
A
T
C
3600
T
A
T
A
G
A
T
G
A
A
T
G
G
A
A
A
A
A
T
A
T
A
A
T
G
T
C
C
A
T
C
C
A
C
A
C
A
G
T
G
G
A
A
T
A
T
T
A
C
A
3650
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
C
A
A
G
C
A
G
C
T
T
T
A
T
T
C
A
C
A
A
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
3700 |
REPEAT
G
A
C
A
G
C
C
C
T
C
A
T
A
C
C
C
C
A
T
C
T
A
T
A
G
A
T
G
A
A
T
G
G
A
G
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
3750
C
A
G
C
C
A
C
A
C
G
G
T
G
G
A
A
T
A
T
T
A
C
A
C
A
G
C
C
A
T
G
A
A
A
A
G
G
A
A
T
A
A
G
C
A
G
C
T
T
T
3800 |
REPEAT
A
T
T
C
A
C
A
C
T
A
G
C
C
A
A
G
A
G
G
T
G
G
A
G
A
G
A
G
T
C
C
T
C
A
T
A
C
C
C
A
T
C
T
A
T
A
G
A
T
G
3850
A
A
T
G
G
A
G
A
A
A
T
A
T
A
A
T
G
T
G
G
T
C
C
A
G
C
C
A
C
A
C
G
G
T
G
G
A
A
T
A
T
T
A
C
A
C
A
G
C
C
3900
A
T
G
A
A
A
A
G
G
A
A
C
G
A
G
G
C
T
C
T
G
C
C
A
C
A
G
G
T
G
G
C
A
A
T
G
T
G
G
G
T
G
A
A
T
G
C
T
G
A
3950 |
NOT SCANNED
G
G
A
C
A
T
C
A
T
G
C
T
T
C
C
T
G
A
G
A
G
A
G
G
C
C
A
G
A
T
A
C
A
A
A
A
A
G
A
T
A
C
A
T
A
G
T
G
T
C
4000
T
G
T
A
T
G
A
T
T
C
C
A
T
T
T
A
T
T
C
C
C
T
A
T
G
T
C
C
A
G
A
T
A
C
A
G
G
C
A
A
A
T
C
C
A
C
A
G
A
G
4050
A
C
A
G
A
A
A
G
T
G
G
A
T
G
A
G
T
G
G
T
T
G
C
C
A
C
A
G
G
C
T
G
G
G
G
A
A
G
A
G
G
A
A
G
G
A
C
G
G
G
4100
T
C
T
T
T
A
A
T
G
G
G
T
C
T
G
G
A
G
T
C
T
C
C
T
T
T
T
G
G
G
G
T
C
G
T
G
A
C
A
A
T
G
T
T
C
T
A
G
A
A
4150
G
A
T
A
G
A
A
G
T
G
G
T
G
G
T
T
T
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
G
C
C
C
A
G
G
4200 |
REPEAT
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
A
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
4250
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
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
C
T
A
C
A
G
G
C
A
4300 |
NOT SCANNED
C
C
C
G
C
A
A
C
T
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
G
T
T
T
A
G
T
A
G
A
G
A
C
T
T
T
G
T
A
T
4350
G
T
T
T
A
G
T
A
G
A
G
T
A
G
T
A
G
A
G
A
T
T
T
T
G
T
A
T
G
T
T
T
A
G
T
A
T
G
T
T
T
T
G
T
A
T
G
T
T
G
4400
G
T
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
C
A
A
T
C
C
A
C
C
C
C
C
C
T
C
A
G
C
C
4450
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
T
G
G
C
C
A
A
T
G
A
A
4500
A
A
T
A
T
T
A
A
T
C
A
A
T
A
A
A
T
G
T
T
A
A
G
A
G
C
A
C
A
G
A
T
T
T
C
C
C
A
A
C
GTTCTGACTC
4550
AGGCATCTTC CTGGACCACA GCCCCTACAG GCAAGTGTGA CTGTGTGTGG
4600
TGAGCCCATG AGCTGAACAC AGGCTCTGTC CGAAAGGAGA CTCTAGAGAT
4650
TGCCTGTTGC CTTGGAGGTG GGCTGCGGTC CCTCTGCCCA GGCAGGAAGG
4700
GGCTCCGAGG CCTCTGGAAC CTCATTT
T
AC CTTTTCCCTG CTGCCCTCAG
4750 |
var(4728):[C:0.20]
TCCCGTCCCC AGCCTCAAGG GGCTCAGCTT TTTCCAG
G
CT CACC
C
C
T
T
C
C
4800 |
var(4788):[A:0.10]
|
NOT SCANNED
A
T
T
T
A
T
A
A
T
T
T
G
G
A
G
A
C
A
A
G
C
A
A
G
G
T
C
C
A
C
T
G
A
C
G
C
T
A
A
C
G
C
C
A
T
T
T
G
G
T
4850
T
C
T
T
T
A
A
A
A
G
A
T
G
T
T
A
G
G
C
C
G
G
G
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
C
A
T
C
C
C
A
G
4900 |
REPEAT
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
T
G
G
A
T
C
A
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
4950
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
A
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
G
A
A
A
A
A
T
T
A
5000
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
G
G
A
C
A
C
C
G
G
T
A
A
T
C
C
C
A
T
C
T
A
C
T
G
G
G
G
A
G
G
C
T
G
A
G
5050
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
G
T
G
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
A
C
C
A
A
G
A
T
5100
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
C
G
G
C
C
T
G
G
A
C
A
A
C
A
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
A
G
A
5150
A
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
C
A
A
A
A
A
A
C
C
A
G
A
A
A
A
G
A
C
A
G
C
T
G
C
C
A
C
C
C
C
5200
A
G
A
G
C
A
C
A
G
T
G
T
A
G
G
A
G
A
G
C
C
A
G
C
C
T
T
T
C
T
G
G
G
A
T
G
C
G
G
C
A
G
A
A
A
G
T
T
C
C
5250
A
G
T
G
C
A
G
G
A
G
G
C
T
G
A
G
G
T
C
C
T
G
T
A
C
C
C
C
C
T
T
G
T
T
A
C
G
G
T
A
A
C
T
G
C
A
G
C
C
A
5300
C
T
T
A
G
G
A
A
T
T
T
C
C
G
T
G
T
G
T
T
G
A
T
T
T
C
A
T
C
A
T
T
G
T
A
A
T
T
A
T
A
C
T
T
C
C
T
T
C
C
5350
A
C
T
G
C
T
T
T
G
T
C
A
T
C
T
G
A
G
C
T
T
C
C
T
G
G
T
G
T
G
C
C
G
C
A
G
A
G
G
A
T
G
T
G
T
T
T
T
C
C
5400
T
G
G
T
T
T
G
T
G
G
A
T
A
C
A
G
C
T
T
G
A
G
C
C
A
A
G
A
A
C
G
G
G
C
T
A
A
A
C
C
C
C
C
A
G
G
G
C
A
G
5450
C
A
A
C
T
G
C
A
A
G
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
C
T
G
A
T
T
G
T
C
C
T
G
C
C
T
C
A
G
C
C
T
5500 |
REPEAT
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
C
A
C
A
C
T
C
C
A
C
C
A
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
5550
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
A
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
5600
A
C
T
C
C
T
G
A
C
C
T
C
G
G
G
C
A
A
T
C
T
G
C
C
C
A
C
C
T
C
T
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
5650
T
T
A
C
T
G
G
C
A
T
G
A
G
C
C
A
C
T
G
C
A
C
C
C
A
G
C
C
GG CAGGGCTTCT TTCAAAAGGG
5700
AACGGCTGAC ACACACACAG ATGCATGCAC ATACATGCAC ACATAC
A
C
A
C
5750 |
NOT SCANNED
T
G
A
T
G
C
A
A
A
C
A
C
A
T
T
T
G
T
A
C
A
C
A
T
A
C
A
T
T
C
A
C
A
C
A
T
G
C
A
T
G
C
A
C
A
T
A
A
A
T
5800
A
T
G
C
A
C
T
T
C
T
A
G
G
C
A
C
A
T
G
C
A
T
G
C
A
C
A
C
A
T
A
C
A
G
A
C
T
C
A
T
G
C
A
T
G
T
A
T
A
T
5850
T
T
G
T
G
T
A
T
G
C
A
C
A
T
A
T
A
T
T
T
A
T
G
C
A
C
A
T
G
T
G
T
G
T
A
C
A
C
G
T
G
G
A
A
T
G
C
A
T
G
5900
C
A
C
A
G
A
T
A
C
A
T
A
T
G
C
A
T
T
C
A
A
A
C
A
C
A
A
A
G
A
C
T
G
T
G
T
G
T
A
C
C
T
G
C
A
T
G
C
A
T
5950
G
A
A
A
A
C
A
C
A
C
A
A
A
C
A
C
A
G
C
T
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
T
C
A
G
6000 |
REPEAT
C
A
C
T
T
G
G
C
G
A
G
G
A
A
A
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
C
T
G
A
G
G
C
A
G
G
A
G
T
C
C
G
A
G
A
C
6050
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
C
A
A
A
T
C
T
C
T
A
C
T
A
A
A
A
A
A
T
A
C
A
A
A
A
A
G
T
G
G
G
C
6100 |
REPEAT
T
G
G
A
T
G
C
G
G
T
G
G
C
T
G
A
C
G
C
C
T
G
T
C
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
6150
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
C
G
G
T
6200
G
A
A
A
C
C
C
C
G
T
C
T
C
T
G
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
A
C
A
T
G
G
T
G
G
T
G
G
6250
G
T
G
C
C
T
A
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
C
A
A
T
C
G
G
T
T
G
A
6300
A
C
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
C
A
G
A
T
C
A
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
6350
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
6400
A
A
T
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
G
A
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
6450 |
REPEAT
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
G
T
C
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
6500
T
G
C
A
A
T
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
T
A
G
C
C
T
G
G
A
C
G
A
C
A
A
G
G
G
C
6550
G
A
G
T
C
T
C
C
A
T
C
A
G
G
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
C
A
C
A
C
A
A
A
C ACTTATGTGT
6600
GCACACAGAT ACACACGGGC ACAAAAATGT ACACACATGT GCAAGCACAC
6650
ACACACAGAC ACATGTACAC AGTACCCGTG TGTGCACAGG CATGCATGCA
6700
GTCCTGCAAA TGTGCA
A
A
C
A
GACATGGCTA CATAGAGGCA TGCACACATA
6750 |
var(6717):[:0.08]
TAGACCCATG TACACACACA CGAATATTCG TGCACACATG T
A
G
AAGCACA
6800 |
var(6792):[G:0.01]
|
var(6793):[C:0.01]
CTCTGACTTC TACATG
C
GCA AAGGCGCA
T
T TGCACACAGA CA
C
ATATGCA
6850 |
var(6817):[T:0.14]
|
var(6829):[G:0.04]
|
var(6843):[T:0.02]
CACTCACCAC C
A
CTTTCCCT CCAGAAGCAG CTCCTTCTGC TGTGAGCACC
6900 |
var(6862):[G:0.35]
AGGCTCTGGA AGGGGCAAGC
G
TCCTTCATT ACCC
G
CAACC CAGTTTCACA
6950 |
var(6921):[A:0.09]
|
var(6935):[A:0.03]
GCCAGTCCCC GCTGCCTGAC TCTCGTTTCT CCT
C
CAG
C
A
G
G
C
A
C
C
T
C
T
G
T
7000 |
var(6984):[G:0.09]
| Exon 2 |
UTR
C
C
T
G
C
G
T
T
C
C
G
G
A
G
C
T
G
C
G
T
T
C
C
C
G
A
T
G
G
T
C
C
T
C
C
T
T
T
G
G
C
T
C
A
C
G
C
T
G
C
7050 |
var(7024):[T:0.01]
M V L L W L T L 8
T
C
C
T
G
A
T
C
G
C
C
C
T
G
C
C
C
T
G
T
C
T
C
C
T
G
C
A
A
A
C
G
A
A
G
G
A
A
G
G TAAGAACTGG
7100 |
var(7059):[A:0.01]
L L I A L P C L L Q T K E 21
AGAAAA
G
ATG CACGTGCCAC CTGGGGAGCG GTGGGGGTAG ACAGACACAC
7150 |
var(7107):[A:0.21]
AATGTCAGCG TGCCGTCCTT CAGGG
A
A
A
C
T
T
T
T
C
A
T
G
C
T
G
A
G
C
T
T
A
T
G
G
C
7200 |
REPEAT
|
var(7195):[C:0.12]
A
G
A
G
T
C
T
C
A
T
G
C
A
G
T
G
G
T
C
G
G
G
A
A
T
G
A
C
T
C
A
G
A
C
A
C
T
T
C
C
C
T
G
T
A
C
C
C
G
T
7250 |
NOT SCANNED
C
A
C
C
A
A
G
T
T
C
C
C
T
G
T
A
A
T
G
C
A
G
C
A
T
C
T
T
G
C
A
A
A
A
T
G
G
T
A
A
T
A
C
G
A
C
C
T
C
A
7300
C
A
G
G
C
A
G
G
G
A
C
C
T
G
A
T
C
G
T
G
A
C
A
C
A
G
A
T
G
C
C
A
T
G
T
G
A
G
G
T
G
T
T
T
T
G
A
T
G
A
7350
A
A
C
T
C
A
C
A
T
G
C
T
G
G
G
A
T
C
A
A
C
A
G
C
A
C
C
A
A
T
A
A
C
A
A
T
T
T
C
C
A
G
TTTCCTTC
7400
ATTGTTTATC TTAC
T
T
T
T
T
C
A
T
T
T
T
G
T
T
A
T
T
A
T
T
T
T
T
A
T
T
T
T
G
G
A
G
A
C
A
G
7450 |
REPEAT
|
var(7426):[C:0.15]
A
G
T
C
T
T
A
C
T
G
T
C
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
A
G
T
G
T
G
A
T
C
T
C
G
G
C
T
C
A
7500 |
var(7451):[G:0.15]
|
var(7457):[G:0.01]
|
var(7458):[T:0.04]
|
var(7459):[C:0.05]
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
A
T
T
C
A
A
G
C
G
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
7550
G
A
G
G
A
G
C
T
G
A
G
A
T
T
A
C
A
G
T
C
G
C
G
C
A
C
C
A
C
C
A
T
G
C
C
C
G
G
C
T
A
A
T
T
T
C
T
G
T
A
7600 |
var(7583):[A:0.11]
T
T
T
T
T
G
A
T
A
G
A
G
A
C
G
G
G
A
T
T
T
C
A
C
T
A
T
G
T
C
G
G
T
C
A
G
G
C
T
G
G
T
C
T
A
G
A
A
C
T
7650
G
C
T
G
A
C
C
A
C
A
A
G
T
G
A
T
C
C
G
T
C
T
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
7700
C
A
G
G
T
G
T
G
A
G
C
C
A
C
A
G
C
G
C
C
C
G
G
C
C
TTTTT T
T
TCATTGGT TTTTACAGTC
7750 |
var(7732):[C:0.02]
TATTACTGCA GGGTTTCACT TTACCTTGAA TTTCTTTTAA CTTTAATTTG
7800
CTTTTCATTC TTTAAC
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
C
A
C
A
G
A
G
T
T
T
C
7850 |
REPEAT
|
NOT SCANNED
A
T
T
C
T
G
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
T
A
A
T
A
G
C
G
T
G
A
C
C
A
T
G
G
C
T
C
A
C
T
G
C
A
7900
A
C
C
T
C
T
A
C
C
T
G
C
T
G
G
G
T
T
C
A
A
T
T
G
A
T
T
C
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
C
A
A
G
C
A
7950
C
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
C
C
G
C
C
A
C
C
A
C
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
C
T
G
T
T
T
T
T
8000
A
C
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
A
G
A
C
A
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
8050
C
C
T
C
A
T
G
A
T
C
C
G
C
C
T
G
C
C
T
C
G
G
GGTTGGGA TTACA
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
8100 |
REPEAT
A
G
G
C
A
G
G
T
G
G
A
C
G
A
T
C
A
C
A
A
G
G
T
C
A
G
G
A
G
T
T
C
G
T
G
A
C
C
A
G
C
C
T
G
A
C
T
A
A
C
8150
A
C
A
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
T
C
A
G
C
T
G
G
G
C
G
T
G
G
T
8200 |
var(8153):[G:0.10]
G
G
C
G
G
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
T
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
G
T
C
G
8250 |
var(8204):[A:0.33]
|
var(8228):[A:0.01]
|
var(8245):[T:0.02]
|
var(8250):[A:0.01]
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
A
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
T
A
G
A
T
C
A
C
G
C
C
A
T
T
G
C
A
8300 |
var(8266):[T:0.01]
|
var(8276):[G:0.01]
|
var(8281):[A:0.01]
|
var(8284):[G:0.04]
|
var(8291):[T:0.01]
|
var(8296):[C:0.02]
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
C
T
C
C
G
T
C
T
C
A
A
AATG AATGAATGAA
8350 |
var(8314):[C:0.01]
|
var(8318):[T:0.02]
TGAAT
G
AATT TCTTATAAGA ATTTTTTTCC CCAGACAGTT TGTTTTAAGG
8400 |
var(8356):[A:0.03]
GATAAATTAT CCTTC
T
A
A
G
T
T
A
G
A
A
G
A
A
A
A
T
A
A
T
G
C
C
A
G
A
A
G
T
C
T
A
G
A
C
A
8450 |
NOT SCANNED
T
T
C
T
T
A
T
G
C
T
T
T
G
G
T
C
C
C
G
C
T
T
A
T
C
A
A
A
C
C
A
A
G
G
T
T
G
C
T
G
A
C
C
T
T
G
A
T
A
A
8500
C
C
A
C
T
C
A
A
G
A
T
C
C
T
T
A
C
A
G
T
T
T
A
T
A
A
A
G
T
C
A
T
T
T
C
C
T
C
A
A
G
T
T
T
T
C
T
A
A
G
8550
T
G
G
C
C
G
A
T
C
A
G
A
G
A
T
A
A
A
C
C
C
T
A
G
A
G
A
A
A
T
A
G
T
T
G
A
T
G
T
A
T
G
T
T
T
C
T
A
G
C
8600
T
T
T
G
G
G
T
G
A
C
C
A
G
C
A
A
A
A
T
G
T
G
A
T
A
G
A
A
T
A
T
T
G
C
C
T
T
T
T
A
C
T
G
G
C
C
G
G
G
T
8650 |
REPEAT
G
C
A
A
C
G
G
C
T
C
A
C
G
T
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
G
G
C
G
G
G
T
G
8700
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
A
A
A
A
C
C
A
G
C
T
T
G
G
C
C
A
T
C
A
T
G
G
T
G
A
A
A
C
8750
C
C
C
G
T
C
T
G
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
C
G
G
T
G
C
T
G
T
G
C
A
C
8800
C
T
G
T
A
A
T
C
C
C
T
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
C
8850
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
C
G
T
G
A
G
C
C
A
A
G
A
T
C
A
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
A
C
C
T
8900
G
G
G
T
G
A
C
A
G
A
G
C
G
A
G
G
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
T
A
8950
T
T
G
C
C
T
T
T
A
A
C
A
T
C
T
T
T
G
T
A
C
A
G
G
T
C
A
T
T
T
A
T
G
A
A
A
T
A
T
C
T
T
G
A
G
C
T
C
T
G
9000
T
G
A
T
G
G
C
T
A
A
G
A
G
A
G
A
C
C
T
T
C
T
T
T
T
T
C
T
T
T
C
T
T
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
9050 |
REPEAT
G
A
C
G
G
A
G
T
T
T
T
T
T
T
G
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
C
G
C
T
C
T
G
T
T
A
C
C
C
A
G
G
9100
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
C
G
A
T
C
T
C
A
G
C
T
C
A
C
C
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
A
G
9150
T
T
C
C
A
G
T
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
T
T
C
C
T
G
A
T
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
9200
C
C
C
G
C
C
A
C
C
A
C
G
C
C
C
A
A
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
C
G
C
G
A
C
G
G
G
G
T
T
T
9250
C
A
C
C
G
T
G
T
T
A
G
C
C
A
G
G
A
T
G
G
T
C
T
T
G
A
T
C
A
C
T
T
G
A
C
C
T
G
G
T
G
A
T
C
C
G
C
C
C
A
9300
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
G
A
C
G
G
G
C
G
T
G
A
G
C
C
A
C
C
A
C
G
C
C
C
G
T
9350
T
T
G
C
T
T
T
A
T
G
A
C
T
T
C
T
A
C
C
A
G
C
T
C
A
C
A
G
A
A
G
T
C
T
C
C
T
G
T
C
T
A
C
A
T
A
G
A
A
C
9400
T
C
C
A
C
T
T
C
C
C
A
G
C
C
A
G
G
C
T
C
A
G
T
A
A
C
T
C
A
C
G
T
C
T
G
T
G
A
T
C
C
C
A
G
C
A
C
T
T
T
9450 |
REPEAT
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
C
A
G
A
T
C
A
T
G
T
G
A
G
G
T
T
G
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
9500 |
var(9464):[G:0.09]
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
G
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
9550
A
G
T
G
T
G
G
T
G
G
C
A
G
G
C
A
C
C
T
G
T
T
A
T
C
C
C
A
G
C
T
G
C
A
C
A
G
C
A
G
G
C
T
G
A
C
A
C
A
G
9600
G
A
T
A
A
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
T
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
9650
C
C
A
C
T
G
A
A
T
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
C
G
T
C
T
C
A
A
A
A
C
A
A
A
9700
C
A
A
G
C
A
A
A
C
A
A
A
A
A
T
A
C
C
C
A
T
T
A
C
A
A
T
G
T
T
G
T
T
T
T
A
A
G
A
T
T
G
T
T
G
T
A
T
A
T
9750 |
NOT SCANNED
C
A
A
C
T
G
G
G
C
A
T
G
G
T
G
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
A
G
A
G
G
C
C
G
9800 |
REPEAT
A
G
G
C
G
G
A
C
A
G
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
C
T
G
G
C
C
A
A
C
A
T
G
9850
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
G
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
T
9900
G
G
G
C
T
C
C
T
G
T
A
A
T
C
C
T
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
C
G
C
T
T
9950
G
A
A
C
C
C
G
G
G
A
G
G
T
A
G
A
G
G
T
T
G
C
G
G
T
G
A
G
C
T
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
C
A
C
T
C
10000
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
A
A
T
A
A
A
A
A
A
T
T
T
A
10050
A
A
A
A
A
A
T
A
A
A
G
A
A
C
T
C
G
A
C
C
T
C
C
C
A
A
A
G
G
T
A
T
T
G
G
C
T
A
A
C
T
C
C
A
C
G
G
G
C
A
10100
A
A
A
A
A
A
C
C
A
T
A
C
C
C
A
T
T
A
C
A
A
T
G
C
T
G
T
T
T
T
A
A
G
A
T
T
G
T
T
G
A
C
C
T
G
G
T
G
C
G
10150 |
REPEAT
G
T
G
G
C
T
C
A
T
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
G
G
C
G
G
A
C
G
A
A
T
10200
C
A
T
G
A
G
G
T
C
A
G
G
A
G
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
A
C
G
G
T
G
A
A
A
C
G
C
C
A
T
10250
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
10300
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
G
A
G
A
G
T
T
G
C
T
T
G
A
A
C
10350
C
A
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
T
A
G
T
C
C
A
G
C
C
10400
A
G
G
G
C
G
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
C
A
T
G
T
C
A
A
A
A
A
A
T
T
T
A
A
A
A
A
A
A
T
T
A
A
A
T
A
10450
A
A
A
G
A
A
C
T
C
C
A
C
C
T
C
C
C
A
A
A
G
G
T
A
T
T
G
G
C
T
A
A
C
T
C
C
A
C
G
G GCAAAAAAAA
10500
AAAACCATAC CCCTTACAAT GCCGTTTTAA GATTCTTACG TATCTCTTC
T
10550 |
var(10550):[G:0.31]
AACTCCAACC TGTCACCGTT TTAG
A
T
C
C
A
A
A
C
C
C
A
C
C
A
A
T
C
A
C
G
A
A
C
C
T
A
10600 | Exon 3
D P N P P I T N L 30
A
G
G
A
T
G
A
A
A
G
C
A
A
A
G
G
C
T
C
A
G
C
A
G
T
T
G
A
C
C
T
G
G
G
A
C
C
T
T
A
A
C
A
G
A
A
A
T
G
T
10650
R M K A K A Q Q L T W D L N R N V 47
G
A
C
C
G
A
T
A
T
C
G
A
G
T
G
T
G
T
T
A
A
A
G
A
C
G
C
C
G
A
C
T
A
T
T
C
T
A
T
G
C
C
G
GTAAATC
10700
T D I E C V K D A D Y S M P 61
ATACTCTCTA TTGTTTTTTT ATTTTTATTT T
A
TTTA
T
T
T
A
T
G
T
A
T
T
T
A
T
G
10750 |
var(10732):[G:0.06]
|
REPEAT
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
C
10800 |
var(10796):[C:0.02]
T
G
C
G
G
T
G
A
C
C
C
G
A
T
C
T
C
C
G
C
T
C
T