ERCC1 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
TGTGTATGGG AATTTGGTAT GTGATAAAGG TAGAATTTCA GAACAGTGGA
50
GAAAAGATCT ACCTTTGGTC AACTTGAGAC AATTGGTTAC ATCACTCATA
100
AACAACGACC TCGGTGCACT TTCAAAAATA AATCTT
G
G
C
C
A
G
G
C
A
C
C
G
T
G
150 |
REPEAT
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
C
A
G
A
T
C
A
C
200
T
T
G
A
G
G
T
C
A
A
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
A
G
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
T
C
C
G
T
C
250
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
G
T
T
A
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
300 |
var(263):[G:0.05]
G
A
G
G
C
A
G
G
A
G
A
A
C
T
G
C
T
T
G
A
A
T
G
T
G
G
G
T
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
T
A
350
G
A
T
T
G
C
T
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
A
G
G
C
A
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
C
A
T
C
T
C
400 |
var(361):[C:0.31]
A
A
A
A
A
A
T
A
A
T
A
A
A
T
A
A
A
T
A
A
A
T
A
A
A
TCTTA CATAGATTAA AGCCAGATGA
450
CCTGCTCATT CTAGGTCATT ACTGTTTGGG ACCGTGTCTG TGTC
C
CTCAC
500 |
var(495):[G:0.01]
TGAACTGTAA GCTCTGGGAG GACAACACGG GGCTTTTATC TTTTACGTAG
550
ATAAAAGAAA TGATAGAATA TATCATTATA GCCGTGCA
C
T
G
T
A
A
T
C
C
C
A
G
600 |
REPEAT
C
A
C
T
T
T
G
G
G
A
G
G
T
C
A
C
A
A
A
G
T
G
A
C
C
T
C
A
G
G
A
T
C
A
G
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
650
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
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
700
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
A
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
750 |
NOT SCANNED
T
A
A
T
C
C
C
A
G
C
T
A
C
T
A
A
G
G
A
G
G
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
G
G
G
800
A
G
G
T
G
C
A
G
T
G
A
A
C
T
G
A
G
A
T
C
G
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
A
A
T
A
A
G
850
A
G
C
G
A
A
A
C
T
C
C
G
T
C
T
C
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
A
A
A
A
G
A
A
T
T
T
A
T
900 |
REPEAT
C
A
T
T
A
T
G
A
C
C
C
T
G
G
G
T
T
A
T
G
G
C
A
G
G
G
C
T
C
T
T
A
A
C
A
C
A
C
C
A
A
A
A
G
C
A
A
A
A
G
950
T
C
A
G
A
A
C
G
G
A
A
C
A
G
A
T
T
G
A
T
A
A
A
T
A
G
T
T
G
C
G
C
A
T
A
A
A
C
A
C
A
A
A
T
A
A
C
T
T
C
1000
T
G
T
G
C
C
A
A
A
A
A
T
A
A
C
T
A
A
A
G
T
T
A
A
A
G
C
C
C
A
A
A
G
T
A
G
A
A
A
C
T
A
G
G
A
G
G
A
A
A
1050
T
G
T
T
T
G
C
A
A
T
A
T
G
G
G
T
A
A
C
T
A
A
G
G
A
T
T
A
G
A
A
T
C
A
G
A
A
T
C
C
A
T
A
A
A
G
T
A
C
C
1100 |
var(1079):[C:0.01]
C
C
T
A
G
A
A
A
T
T
A
A
T
A
G
T
A
A
T
A
A
A
A
A
A
G
C
C
A
T
A
C
A
A
C
C
C
A
T
T
T
T
A
A
A
A
A
T
G
G
1150
A
C
A
A
G
G
A
A
T
A
T
G
A
G
C
A
A
G
C
A
A
T
T
C
A
C
A
G
A
A
G
A
C
A
A
A
A
T
T
T
A
C
A
A
G
A
C
C
A
A
1200
T
A
C
T
T
T
C
A
C
A
A
A
A
A
A
C
A
T
T
C
C
A
T
T
T
C
C
T
T
A
G
T
A
A
T
C
A
G
A
G
A
G
C
T
G
C
A
A
G
T
1250 |
var(1204):[A:0.06]
T
A
G
A
A
C
A
G
T
G
T
G
A
T
A
C
T
A
T
C CTTTCAGGAA G
T
G
A
C
T
A
A
T
A
C
T
A
A
C
T
C
A
T
C
1300 |
REPEAT
A
G
C
C
A
G
G
C
C
C
C
T
G
C
T
C
A
G
A
T
G
T
C
C
C
T
T
C
C
T
C
C
A
G
G
A
A
G
C
C
C
T
T
C
C
G
G
A
C
T
1350
C
C
G
G
G
G
C
T
G
A
G
T
C
A
G
G
C
G
C
T
C
C
C
C
C
T
G
A
C
C
C
C
C
A
T
C
C
C
A
C
G
G
C
T
C
T
C
C
C
G
1400 |
var(1390):[T:0.01]
G
G
A
T
C
T
C
C
C
A
T
C
C
C
A
G
A
C
C
T
G
C
C
C
A
T
T
C
T
G
G
G
T
C
A
G
C
A
C
T
G
G
G
A
A
C
G
T
G
T
1450 |
var(1436):[T:0.06]
C
T
G
T
G
T
C
C
C
T
T
A
C
T
G
A
A
C
C
G
T
A
A
G
C
T
C
C
G
G
G
A
G
G
A
C
A
A
C
A
C
G
G
G
G
C
T
G
T
C
1500 |
var(1454):[C:0.20]
G
T
T
G
G
T
C
A
C
T
G
C
T
G
T
G
T
C
A
C
C
A
G
C
A
C
G
G
A
C
T
C
G
C
A
C
A
G
G
A
C
C
G
G
G
A
A
G
A
G
1550
A
G
G
A
A
G
C
G
C
G
T
G
G
G
G
G
G
A
A
T
A
G
G
T
G
T
G
G
A
A
T
A
A
A
T
G
A
A
T
G AATGAGGAAA
1600
CTGAAGCCAA GTCAATGTCT GAGTTGGATT CAAACTTAAG TCTCTCCTTA
1650
CTGAGAGGAG GGACCAAGTT GGATCTCCTG CGATCTGTTC TCCACTGAGC
1700
CCTGCCAGGA TTCTGGGCAC ACAGAAGCGC TCAGTAAGGG CTTTGAAA
C
T
1750 |
var(1749):[A:0.02]
TAACAGTTTG GGAGCCAGAT CCTCAGGCCA CATCTCTCTC CTCCCACGAC
1800
CTCCGCGGTC CTCCAGAACC ATAGAGAGTT GTACAGAGAT CGCCCTGCTC
1850
TATGCTCTAC TCTCCTGGGG AGCGGGGCCA GAGAGGCCGG
A
A
G
T
G
C
T
G
C
G
1900 | Exon 1 |
UTR
A
G
C
C
C
T
G
G
G
C
C
A
C
G
C
T
G
G
C
C
G
T
G
C
T
G
G
C
A
G
T
G
G
G
C
C
G
C
C
T
C
G
A
T
C
C
C
T
C
T
1950 |
var(1906):[C:0.01]
|
var(1928):[T:0.01]
G
C
A
G
T
C
T
T
T
C
C
C
T
T
G
A
G
G
C
T
C
C
A
A
G
A
C
C
A
G
C
A
G
G
T
G
A
G
G
C
C
T
C
G
C
G
G
C
G
C
2000
T
G
A
A
A
C
C
G
T
G
A
G
G
C
C
C
G
G
A
C
C
A
C
A
G
G
T
G
C
G
G
G
A
G
G
C
G
G
A
G
A
C
T
G
C
G
G
G
T
G
2050
G
A
G
A
T
T
G
G
C
G
C
C
G
C
G
G
A
A
G
C
C
A
A
T
C
A
T
T
G
C
C
G
A
G
T
C
T
G
A
G
A
G
A
T
G
G
A
C
A
A
2100
G
G
C
C
A
G
G
C
G
T
G
G
G
G
A
G
G
G
C
G
T
C
C
A
G
A
T
G
C
T
A
G
C
C
T
C
G
G
G
G
G
C
C
G
G
A
C
G
A
A
2150 |
var(2137):[T:0.01]
|
var(2148):[T:0.20]
C
G
G
A
A
G
G
C
G
G
G
G
G
A
T
G
G
T
G
G
G
G
A
C
G
G
A
G
C
C
A
A
T
A
G
A
A
T
C
C
G
G
T
G
G
G
G
G
C
G
2200
A
G
G
G
G
C
G
G
A
G
C
G
A
T
G
G
G
A
C
T
T
G
T
G
G
A
C
C
T
G
T
A
A
G
G
G
G
C
G
G
G
G
C
G
A
G
C
C
G
A
2250
A
G
G
T
G
G
A
G
G
T
C
A
A
A
G
G
G
G
C
G
T
G
G
C
G
T
T
A
C
A
G
A
G
C
C
T
C
T
A
G
C
G
C
T
G
G
G
T
G
T
2300 |
var(2289):[G:0.03]
T
G
G
G
G
A
C
C
T
G
A
C
G
C
T
A
T
G
G
A
G
C
T
C
T
C
G
G
A
G
T
T
T
T
G
T
G
G
G
G
G
A
C
G
G
C
T
G
T
G
2350
A
G
T
G
G
G
G
G
G
G
T
T
C
C
T
G
C
T
G
C
G
G
G
A
T
G
A
G
A
A
C
G
T
A
G
A
C
G
C
C
A
G
T
G
G
C
T
C
A
C
2400 |
var(2354):[-:0.96]
T
C
G
C
T
C
C
T
G
G
C
A
C
C
T
T
C
C
C
T
T
T
C
A
G
G
C
T
C
C
A
G
A
T
G
G
A
C
C
C
T
G
G
G
A
A
G
G
A
C
2450
M D P G K D 6
A
A
A
G
A
G
G
G
G
G
T
G
C
C
C
C
A
G
C
C
C
T
C
A
G
G
G
C
C
G
C
C
A
G
C
A
A
G
G
A
A
G
A
A
A
T
T
T
G
T
2500
K E G V P Q P S G P P A R K K F V 23
G
A
T
A
C
C
C
C
T
C
G
A
C
G
A
G
G
A
T
G
A
G
G
T
C
C
C
T
C
C
T
G
G
A
G
T
G
GTA GGACAAGGAG
2550
I P L D E D E V P P G V 35
ATGCGGGGCC CCTGGGAGGC TGGGGGCTGT TAGGACGAAG AGGATAGGAT
2600
GGGGCCTGTG GGACCAGGGT GTGGGTTAGT GGATTTGGGG GCCAC
G
GAC
G
2650 |
var(2646):[A:0.01]
|
REPEAT
A
C
T
T
G
G
G
G
A
A
A
C
A
G
T
C
C
T
T
G
G
T
C
C
T
C
C
C
C
A
G
G
T
C
C
C
A
G
T
T
T
C
C
C
C
A
T
C
T
G
2700 |
var(2698):[G:0.01]
T
G
A
A
A
T
G
G
A
T
G
G
G
T
G
G
T
T
C
T
A
A
G
A
G
A
G
G
G
C
T
A
A
G
G
C
A
G
A
G
G
C
C
A
G
A
C
A
C
T
2750
G
G
C
A
T
T
C
AGC AGGTAGCCCC TGATGTGTTT TACGAGGCCA GCA
C
CCTGAT
2800 |
var(2794):[T:0.02]
TTTTCAAGAC ATGAATTTAT TGCTCGTGTT TAAGAATCGC CAGGTTTTGC
2850
AATCTTAAAA AAATCTACAC TTTAGACATA TTTTGGTAAA TGGAAGGACC
2900
TGGCAATATT GAAATCTCCT TCCCAAGGGA AAACAATCGA C
G
G
G
T
G
A
T
G
A
2950 |
var(2942):[A:0.01]
|
REPEAT
G
C
A
T
T
G
G
C
T
A
T
G
A
A
G
A
A
A
A
G
G
A
A
A
G
T
G
G
G
C
T
A
A
G
G
A
T
G
T
A
G
G
G
C
A
T
G
A
T
G
3000
G
G
G
G
A
G
A
G
G
A
C
C
T
T
C
C
T
A
C
T
C
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
T
T
3050 |
REPEAT
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
T
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
C
T
G
G
C
A
C
C
A
T
C
T
3100
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
T
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
3150
G
C
C
T
C
C
C
G
A
G
T
A
A
C
T
G
G
G
A
T
T
A
C
A
G
G
A
G
C
G
C
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
3200 |
var(3157):[A:0.01]
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
C
T
C
3250 |
var(3243):[T:0.01]
A
A
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
T
G
C
T
G
G
G
A
T
G
T
A
C
A
G
G
C
A
T
G
3300
A
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
C
C
C
T
T
C
C
T
A
C
T
T
T
A
G
A
T
A
G
G
A
A
G
G
T
C
A
A
G
G
G
A
G
G
3350 |
REPEAT
|
NOT SCANNED
G
C
C
T
C
T
C
T
G
A
G
G
A
G
G
T
G
A
C
A
T
C
T
T
G
G
T
A
G
A
G
A
C
G
T
G
A
A
A
G
A
G
G
T
G
A
G
G
G
A
3400
G
T
G
A
G
C
C
A
T
G
G
C
G
A
C
A
T
C
T
G
G
G
G
T
A
G
A
G
G
G
A
A
C
A
G
C
C
A
G
T
G
C
C
A
A
A
G
C
C
C
3450
T
G
A
G
G
T
C
A
G
A
G
A
G
A
G
C
C
T
G
C
C
G
T
G
T
T
C
A
A
G
G
G
C
A
G
A
A
C
G
A
A
G
T
C
T
G
G
T
G
G
3500
G
G
C
T
G
G
A
G
T
A
G
A
G
A
A
A
G
C
A
A
G
G
A
G
A
A
G
T
G
G
T
A
G
A
A
G
G
T
G
T
A
G
T
T
T
C
T
G
A
G
3550
G
C
A
A
G
G
A
G
C
A
G
G
G
A
C
A
G
A
T
C
T
A
G
A
G
C
C
T
T
G
T
G
G
G
T
G
A
T
G
G
T
G
A
C
A
G
C
T
T
T
3600
G
G
C
T
T
T
C
A
C
T
C
T
G
A
G
G
C
A
G
G
A
G
C
C
A
C
C
C
A
C
C
A
G
C
T
C
T
G
A
G
C
A
G
A
G
G
A
G
G
G
3650
A
C
A
T
G
A
G
G
A
C
T
T
A
G
T
T
A
G
G
G
G
A
C
A
G
A
C
T
T
C
C
A
G
G
G
G
G
C
G
A
G
G
G
T
G
T
G
G
G
C
3700
A
A
G
G
A
G
C
T
G
G
T
G
A
G
G
A
A
G
T
G
A
C
T
T
C
A
G
T
G
G
T
C
C
A
A
G
G
G
T
G
A
A
A
C
G
C
T
G
G
T
3750
G
G
C
T
G
G
G
A
C
C
A
G
A
G
T
G
G
A
G
G
C
T
G
A
G
G
A
G
T
G
G
G
G
G
A
G
A
A
G
T
G
G
C
T
G
A
A
T
T
C
3800
A
G
A
T
T
T
T
G
A
G
C
T
C
T
C
A
G
C
C
T
T
C
T
G
G
A
A
G
G
G
A
C
A
T
T
A
G
G
A
G
G
A
A
G
G
A
G
G
A
T
3850
G
G
G
C
A
G
C
C
C
T
G
A
A
G
A
G
G
G
GA GAGG
G
G
T
C
A
A
G
T
G
C
T
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
3900 |
REPEAT
A
A
T
C
C
C
A
G
G
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
3950 |
var(3923):[-:0.01]
G
T
T
C
G
A
G
A
T
C
A
G
C
C
T
G
G
A
C
A
A
C
A
T
G
T
T
G
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
4000
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
C
G
T
G
G
T
G
G
T
A
C
A
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
T
T
T
G
G
4050 |
var(4016):[T:0.01]
|
var(4020):[A:0.01]
|
var(4028):[T:0.01]
G
A
G
G
C
T
G
A
G
A
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
G
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
4100
A
G
C
C
G
A
G
A
T
C
A
C
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
4150
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
T
G
G
G
C
A
C
C
T
G
4200 |
NOT SCANNED
|
REPEAT
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
A
G
C
T
G
A
G
G
C
A
G
A
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
4250
T
G
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
C
A
A
G
A
T
A
G
T
G
C
C
A
C
T
A
C
A
C
T
C
C
A
G
T
C
T
G
G
G
T
G
A
4300
C
A
G
A
G
C
A
A
G
A
C
T
G
T
C
T
C
A
A
A
A
A
A
A
G
A
A
A
A
A
G
A
A
A
G
G
G
G
A
G
A
G
G
A
A
C
T
C
A
C
4350
A
G
G
G
C
C
T
C
A
G
A
T
G
T
C
C
T
C
T
G
C
T
C
A
C
C
C
C
A
A
C
C
A
G
T
C
C
C
C
T
G
C
A
A
A
C
T
C
C
C
4400
T
T
T
C
T
C
C
C
C
A
C
A
G
G
C
C
A
A
G
C
C
C
T
T
A
T
T
C
C
G
A
T
C
T
A
C
A
C
A
G
A
G
C
C
T
T
C
C
C
A
4450 | Exon 2
A K P L F R S T Q S L P 47
C
T
G
T
G
G
A
C
A
C
C
T
C
G
G
C
C
C
A
G
G
C
G
G
C
C
C
C
T
C
A
G
A
C
C
T
A
C
G
C
C
G
A
A
T
A
T
G
C
C
4500
T V D T S A Q A A P Q T Y A E Y A 64
A
T
C
T
C
A
C
A
G
C
C
T
C
T
G
G
A
A
G
G
G
G
C
T
G
G
G
G
C
C
A
C
G
T
G
C
C
C
C
A
C
A
G
G
G
T
C
A
G
A
4550 |
var(4533):[A:0.03]
I S Q P L E G A G A T C P T G S E 81
G
C
C
C
C
T
G
G
C
A
G
G
A
G
A
G
A
C
G
C
C
C
A
A
C
C
A
G
G
C
C
C
T
G
A
A
A
C
C
C
G
G
G
G
C
A
A
A
A
T
4600
P L A G E T P N Q A L K P G A K 97
C
C
A
A
C
A
G
C
A
T
C
A
T
T
G
T
G
A
G
C
C
C
T
C
G
G
C
A
G
G TGAGGAGGGA GACGGAGAAG
4650
S N S I I V S P R Q 107
TGAGGCCTTG AGGTTTTCAG TGGGAAACGC TGTTCTAGGG ATGACTCCAG
4700
TG
G
AAGGAGG TCTGAGTTCC AGCCACTTTG TTCTCCCCAT TC
A
T
T
C
ATTC
4750 |
var(4703):[C:0.38]
|
var(4743):[-:0.03]
ATTCATTCAT TCATTCGACA GCAGTGTGTG GGTTGAGAGT GCCCCAGCTC
4800
TACTTGCTGG GGCTGTGGCT GTATTGGTGT AGCTCTGTTT CCTCACCCCA
4850
GGTTTGTTAA TTTATTCAAA ATGTACTGAA TGA
G
G
C
T
G
G
G
T
G
T
G
G
T
G
G
C
T
4900 |
REPEAT
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
A
G
A
G
G
C
T
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
C
T
4950
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
T
C
T
G
G
C
C
A
A
T
A
T
G
G
T
G
A
C
A
C
C
C
C
A
T
C
T
C
5000 |
var(4979):[G:0.35]
T
A
C
T
A
A
A
A
A
C
A
C
A
A
A
A
A
G
T
T
G
C
T
G
G
G
C
G
T
G
A
G
G
G
C
A
G
G
AA GTGTTCAGGA
5050 |
var(5027):[T:0.06]
C
CACAGGACA CGCAGACTGG GGCTGGAGGG AGAGGGCTGA GCTGGAGACA
5100 |
var(5051):[T:0.01]
GACCC
G
GGGA CCCTTTAGGA AAGGCCTGGT GCCAGTGGGC ATGGAGGGGA
5150 |
var(5106):[T:0.04]
GGAGCCTGGA TCAGAGGATC AGGGACTGTC CAGGGTTAGG AGGAGAGAGA
5200
AGCTGGAAAA GACCCTGCCA CAGGTGGGAG GAGGGAGGAG GTGTGGGAAG
5250
AGGTGCGAGG AGGCAGGAGG TGTGGGAAGA GGTGGGAGGA GGGAGGAGGT
5300
GCAAGAAGAG GTGGAGGAGG GCCCTGTGGT TATCAAGGGT CATCCCTATT
5350
GATGGCTTCT GCCCTTCGTC CCTCCCCAG
A
G
G
G
G
C
A
A
T
C
C
C
G
T
A
C
T
G
A
A
G
5400 | Exon 3
R G N P V L K 114
T
T
C
G
T
G
C
G
C
A
A
C
G
T
G
C
C
C
T
G
G
G
A
A
T
T
T
G
G
C
G
A
C
G
T
A
A
T
T
C
C
C
G
A
C
T
A
T
G
T
5450 |
var(5412):[T:0.36]
F V R N V P W E F G D V I P D Y V 131
G
C
T
G
G
G
C
C
A
G
A
G
C
A
C
C
T
G
T
G
C
C
C
T
G
T
T
C
C
T
C
A
G
GTGAGCT CTGCGGCGCC
5500
L G Q S T C A L F L S 142
ACCCCAGACT TCAGGAA
G
GG CACCCCACTG GCCTGGGAGG GTCATGTCCC
5550 |
var(5518):[C:0.01]
AGTGTTCTGG ACTGTTCT
A
T GAGAAGCCTC TGGGCATGGT CCTGCAGGTT
5600 |
var(5569):[G:0.29]
CTGGGCCTTG GTGGGACCCT GTGTTGG
A
G
G
C
A
G
G
G
G
G
T
C
T
T
G
G
C
C
T
G
G
A
G
5650 |
NOT SCANNED
G
T
G
C
C
C
A
G
T
G
C
A
A
C
A
A
G
A
G
C
T
G
G
A
G
C
C
C
G
A
A
C
T
C
C
T
G
G
G
T
C
T
C
A
G
G
A
A
G
G
5700 |
REPEAT
A
G
G
G
G
C
T
G
G
G
G
G
C
C
G
G
A
C
T
C
C
T
G
G
G
T
C
C
G
G
G
G
G
A
G
G
A
G
G
G
G
C
T
G
A
G
G
G
C
T
5750 |
var(5728):[T:0.01]
G
G
A
C
T
C
C
T
G
G
G
G
A
T
C
T
G
A
G
G
G
A
G
G
A
G
G
G
G
C
T
G
G
G
G
C
C
T
A
G
A
C
T
C
C
T
G
G
G
T
5800
C
T
G
A
G
G
C
A
G
G
A
G
G
G
G
C
T
G
G
G
G
G
C
C
T
G
G
A
C
T
C
C
T
G
G
G
G
T
C
T
C
A
G
G
G
A
G
G
A
G
5850
G
G
G
C
T
G
G
G
G
G
C
C
T
G
G
A
C
T
C
C
T
G
G
G
G
T
C
T
C
A
G
G
G
A
G
G
A
G
G
G
G
C
T
G
G
G
G
G
C
C
5900
T
G
G
A
C
T
C
C
T
G
G
G
T
C
T
A
A
G
G
G
A
G
G
A
G
G
G
G
C
T
G
G
G
G
C
C
A
G
A
T
T
C
C
T
G
G
G
T
C
T
5950
A
A
G
G
G
A
G
G
A
G
G
G
G
C
T
G
G
G
C
C
C
A
G
A
C
T
C
C
T
G
G
A
T
C
T
G
A
C
G
G
A
G
G
A
G
G
G
A
C
T
6000
G
G
G
T
C
A
C
T
C
A
T
G
T
C
C
C
A
G
A
C
A
T
C
C
T
T
G
A
C
T
G
G
A
G
T
T
G
A
T
G
A
G
A
A
G
C
A
G
G
A
6050
T
T
T
C
T
C
C
C
A
T
C
T
C
T
A
C
C
C
T
A
G
T
T
A
A
A
C
A
A
C
T
T
T
C
C
C
C
T
C
C
A
A
C
C
T
A
G
G
G
G
6100
C
C
C
C
T
C
T
G
C
A
G
A
C
A
G
G
G
C
C
A
G
A
C
A
G
A
G
G
A
A
G
T
G
A
A
A
C
C
T
C
T
G
A
G
T
T
C
C
T
G
6150
T
G
C
T
C
C
C
T
G
C
A
G
G
C
T
G
T
G
A
C AGCTGCAGAC TGCTGGGCAG AGCCAGTCCT
6200
A
GTTCCCTGG GTCATGAAGC CCTCAC
C
GTA GCCCTCCAAG GCCAGAGCAG
6250 |
var(6201):[G:0.01]
|
var(6227):[T:0.03]
ATGGTTTGGC AGTGGGCCCT GCTTCCCACC GCGAGCC
A
TG CA
G
TGTCCCC
6300 |
var(6288):[-:0.01]
|
var(6293):[A:0.01]
GTGCCCACAC TCTCTAGGGC CCCTGGCACC TGTTCTCCCC TTGAAGCCCA
6350
AGTCTCTTCC CCTCTTCATG AAGAAGCCAG GGGTCTGGTC TTCTAGGTAA
6400
GCACAGCCAT GTGGC
C
C
T
G
G
C
T
G
C
C
A
A
T
C
C
C
T
G
C
G
G
A
G
C
A
T
C
T
T
C
T
T
G
G
A
6450 |
REPEAT
A
G
A
G
T
G
A
C
C
T
G
G
G
G
C
A
A
G
T
G
A
C
T
T
A
C
C
C
T
C
T
G
T
G
G
G
C
C
T
C
A
G
G
A
C
C
C
T
C
T
6500
GTCCCCCATG CCGTACTCTG AGCCCTTAGT ATTCCAGTGA GAGGGAAAAG
6550
GGCTTTGGGG GTCTTGAAGA GACTGAGACC TCTCAACTCC CGCTCCCTGC
6600
CCCCACCAG
C
C
T
C
C
G
C
T
A
C
C
A
C
A
A
C
C
T
G
C
A
C
C
C
A
G
A
C
T
A
C
A
T
C
C
A
T
G
G
G
C
6650 | Exon 4
L R Y H N L H P D Y I H G 155
G
G
C
T
G
C
A
G
A
G
C
C
T
G
G
G
G
A
A
G
A
A
C
T
T
C
G
C
C
T
T
G
C
G
G
G
T
C
C
T
G
C
T
T
G
T
C
C
A
G
6700
R L Q S L G K N F A L R V L L V Q 172
G
T
G
G
A
T
G
T
G
G TAAGCAGGGG CTGCTCCCTA GCCAGCCTCA C
C
GGGCTTTG
6750 |
var(6742):[A:0.26]
V D V 175
AGGTTGTGCA GTGGGCTGTT GAATCCCTTC CAAGAGGAAA TGCAGCTAAA
6800
ACCTCAGCGA GGAACGTTTT TCACATCTGA GATGACATGG GTCACCAAGA
6850
CATTATGTTG GCAAGGAGAG GGGAGGGCAA AATTGTCTAT TTCCTCTTTC
6900
CCCACATCCC CTTCAATTAG TCCCAGATCT CTGCCACCTA AATA
T
C
T
C
T
T
6950 |
REPEAT
C
T
T
T
T
T
G
T
T
T
T
G
T
G
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
G
A
G
A
C
G
G
A
G
T
T
T
C
G
C
T
C
7000
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
A
C
T
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
G
C
C
T
7050
T
C
A
C
C
T
C
T
G
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
T
C
T
G
A
G
T
A
G
C
T
G
7100
G
G
A
T
T
A
T
A
G
G
C
A
T
G
C
A
C
C
A
C
C
A
C
G
C
C
C
G
G
C
T
G
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
7150
G
A
G
A
C
T
G
G
T
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
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
7200
A
G
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
7250
C
C
A
C
C
G
T
G
C
C
T
G
G
C
C
AT
A
T
C
T
C
T
C
T
C
T
T
T
T
A
T
T
T
T
T
T
T
A
A
G
A
C
G
G
A
G
T
C
T
7300 |
var(7262):[A:0.02]
|
var(7268):[C:0.03]
|
REPEAT
C
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
C
C
A
G
A
T
C
T
T
A
G
C
C
C
A
C
T
G
C
A
A
7350
C
C
T
C
T
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
A
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
T
C
G
A
G
C
A
A
7400
C
T
G
G
G
A
T
G
A
C
A
C
C
A
T
G
C
C
T
T
G
C
T
A
A
T
T
T
T
T
ATTGATTGAT TGATTGATTG
7450
ATTG
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
C
T
T
T
C
G
C
C
C
A
G
A
C
T
G
G
A
G
T
G
T
A
G
T
G
G
7500 |
REPEAT
T
G
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
A
T
T
C
A
G
G
T
G
A
T
T
C
T
C
7550
C
T
G
A
C
T
C
A
G
C
C
T
C
C
T
G
A
A
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
G
T
A
C
C
A
C
C
A
T
G
A
C
7600
C
G
G
C
T
A
A
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
C
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
7650
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
T
C
T
G
A
T
C
T
C
A
G
G
T
G
A
T
C
C
T
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
7700
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
C
C
C
A
C
C
A
G
G
T
G
A
T
T
T
T
T
T
T
T
T
T
T
A
A
T
T
T
T
T
A
G
A
G
A
7750 |
REPEAT
|
NOT SCANNED
C
A
G
G
G
T
C
T
T
G
C
T
A
T
G
T
T
A
C
C
C
A
G
T
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
C
7800
A
T
T
C
C
T
C
T
T
C
C
A
T
T
G
G
G
T
T
G
G
G
T
G
C
A
G
T
G
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
T
A
G
C
7850 |
REPEAT
T
C
T
T
T
G
A
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
A
G
A
G
T
T
C
G
A
G
A
C
7900
T
A
G
T
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
A
G
A
C
C
C
C
C
A
T
C
T
C
T
A
C
A
A
A
A
T
A
C
A
A
A
A
A
A
T
7950
A
T
G
G
T
G
G
T
G
G
G
C
A
C
C
T
A
T
A
G
T
C
C
C
A
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
8000
A
A
T
T
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
A
T
G
A
G
C
C
A
A
G
A
T
C
A
T
G
T
C
A
8050
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
C
G
A
G
A
C
T
C
C
G
T
C
T
G
A
A
A
A
A
A
A
T
T
A
A
8100
A
A
A
G
A
T
C
A
T
A
A
A
A
C
T
C
A
C
A
T
G
G
C
T
C
C
T
A
A
G
C
A
C
C
C
T
A
G
G
A
G
A
A
A
G
T
T
C
T
G
8150
C
T
C
C
C
T
T
C
C
A
T
G
A
C
C
T
A
T
G
G
G
G
C
C
C
T
G
T
G
T
G
A
C
C
T
C
C
A
A
C
C
T
C
T
A
C
C
C
A
G
8200
T
T
C
T
C
C
A
G
G
C
C
C
G
T
C
T
C
T
A
A
G
A
T
T
C
C
A
T
G
C
T
C
C
T
C
A
T
G
G
A
A
T
T
T
C
A
C
A
T
C
8250
C
T
C
T
C
TCCCG TAGGGAGC
G
A A
T
T
A
T
A
A
T
T
C
C
T
C
A
A
G
C
C
C
T
C
T
T
T
C
C
C
C
T
C
8300 |
var(8269):[A:0.26]
|
REPEAT
C
C
A
T
C
C
T
T
T
G
C
C
C
A
T
G
C
T
G
T
T
C
T
T
T
A
T
G
T
C
T
G
G
A
A
T
T
C
C
C
T
T
T
T
C
T
G
G
T
C
8350
T
C
C
T
T
T
T
C
A
T
C
C
T
T
T
C
C
T
C
C
T
C
C
T
C
A
T
C
C
T
C
C
T
T
T
G
G
G
T
C
T
C
A
G
C
T
C
T
A
A
8400
T
G
T
C
C
C
C
T
C
C
T
C
C
A
A
G
A
A
G
C
C
C
T
C
C
C
T
G
A
T
C
C
C
C
C
A
G
G
C
A
G
G
C
T
C
A
G
T
C
C
8450
C
T
C
C
T
C
T
G
G
C
T
C
C
C
A
C
A
T
C
G
C
A
G
C
C
C
T
G
G
C
C
A
C
T
C
C
A
G
A
T
C
A
T
C
A
G
T
G
T
C
8500 |
var(8485):[T:0.13]
T
G
G
G
G
A
C
A
G
G
T
C
T
G
T
C
C
T
G
C
T
C
A
T
C
A
G
A
C
T
G
T
G
A
G
C
C
C
T
G
G
G
A
G
G
G
C
A
G
A
8550
G
T
C
A
G
G
G
C
T
G
T
C
T
C
A
G
C
C
A
C
T
G
C
T
G
G
G
T
C
C
T
A
G
C
A
C
T
G
C
T
T
A
G
C
A
C
G
G
G
C
8600
C
A
G
G
C
A
C
C
C
A
G
T
A
G
G
A
G
C
T
T
A
G
A
G
A
G
T
G
A
C
A
A
T
T
G
G
G
T
G
A
GAGGCTCTTG
8650
GCATCCTGAG CTACTGTGTT T
T
CAGGCTTT AA
T
T
C
T
T
T
T
T
T
T
G
T
T
C
T
T
C
T
8700 |
var(8672):[C:0.01]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
A
C
C
C
T
G
T
C
G
C
C
C
A
G
G
T
T
G
G
A
G
T
G
C
A
G
T
8750
G
G
C
G
C
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
G
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
A
G
T
T
C
8800
C
C
C
C
A
C
C
T
C
A
G
C
T
T
C
C
C
T
A
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
C
G
8850 |
var(8801):[T:0.33]
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
A
T
T
CCTGGCTTCT AGGTTTCTAA TTCTGATTTT
8900
CTCCTCCAG
A
A
A
G
A
T
C
C
C
C
A
G
C
A
G
G
C
C
C
T
C
A
A
G
G
A
G
C
T
G
G
C
T
A
A
G
A
T
G
T
G
8950 | Exon 5
K D P Q Q A L K E L A K M C 189
T
A
T
C
C
T
G
G
C
C
G
A
C
T
G
C
A
C
A
T
T
G
A
T
C
C
T
C
G
C
C
T
G
G
A
G
G
T
G
A
G
A
T
G
A
G
G
G
C
T
9000 |
NOT SCANNED
I L A D C T L I L A W S 201
T
C
C
C
T
G
C
C
T
C
A
T
T
C
A
G
G
C
T
C
C
A
C
C
T
G
G
G
A
T
T
G
G
T
C
C
C
T
G
C
T
C
C
C
C
C
A
T
C
C
9050
C
A
C
C
C
T
G
C
C
C
A
G
C
C
C
T
T
C
C
C
T
T
C
T
C
C
T
T
C
C
T
G
T
G
T
G
G
G
C
C
T
G
G
T
G
C
A
G
G
C
9100 |
REPEAT
A
C
T
G
C
C
T
C
T
C
T
C
T
G
G
C
C
T
T
C
A
G
T
T
T
C
C
T
C
A
T
C
T
G
T
A
A
A
A
C
A
A
G
G
T
C
T
T
A
A
9150
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
T
A
C
A
G
A
G
C
C
T
C
A
C
T
C
T
G
T
C
C
C
C
T
A
G
G
C
T
G
9200 |
REPEAT
A
A
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
C
G
G
C
T
C
T
G
C
C
T
T
G
G
G
G
G
T
T
C
A
A
G
C
A
A
T
T
C
T
G
9250
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
T
G
C
A
C
C
A
C
C
A
C
G
C
C
C
A
G
9300 |
var(9262):[G:0.01]
C
T
A
A
T
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
G
G
A
C
G
G
G
T
T
T
T
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
9350
C
T
G
G
T
C
T
T
G
A
A
A
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
T
C
C
C
G
C
C
T
T
A
C
C
C
T
C
C
C
A
A
9400
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
T
G
T
G
C
C
C
G
G
T
T
G
G
A
A
G
C
T
G
A
A
C
A
9450 |
REPEAT
T
T
T
C
A
T
G
A
G
G
T
T
G
GCTTCTT GCTGCAGCGG GAAAATAAGC AGTGTTTCTG
9500
GTTTTCCTCC TGTCAAACCC AGTACAAACA CTTTGTGTGC TGACTTCCCT
9550
TCCAA
A
A
T
A
G
C
T
A
A
C
A
T
T
T
C
T
T
C
A
G
C
A
G
T
G
C
C
A
G
G
C
G
T
G
G
C
T
T
T
T
G
G
C
A
C
9600 |
REPEAT
T
T
A
C
A
G
A
G
C
A
T
T
C
C
A
G
A
G
T
A
T
T
C
T
C
T
G
A
T
C
T
T
C
A
A
A
G
T
C
A
T
A
C
C
A
T
C
C
T
C
9650
C
C
C
A
C
T
T
T
A
T
T
A
T
T
A
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
T
T
G
C
T
C
T
T
T
T
G
C
T
G
A
G
G
9700 |
REPEAT
C
T
G
G
A
G
T
G
C
A
G
T
G
G
T
G
C
T
A
T
C
A
C
A
G
G
T
T
A
C
T
G
A
A
G
C
C
T
C
A
A
C
T
T
G
A
C
A
G
G
9750
C
T
C
A
G
G
C
A
G
T
C
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
C
A
G
C
T
G
A
G
A
C
T
A
A
A
G
G
C
A
9800 |
var(9775):[T:0.31]
C
G
C
G
C
C
A
C
C
A
C
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
A
A
T
T
T
T
T
T
G
T
G
G
A
G
A
C
A
A
C
A
C
C
T
T
9850
G
C
T
A
T
G
T
T
G
T
C
C
C
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
T
9900 |
var(9863):[T:0.01]
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
T
A
C
A
A
G
C
A
T
G
A
G
C
C
A
C
T
A
T
G
C
C
T
G
9950
A
C
C
A
C
C
C
C
A
C
T
T
T
A
C
A
G
T
G
A
G
G
A
A
A
C
A
G
G
C
C
C
A
G
A
G
A
G
C
A
A
A
C
C
A
C
T
G
G
C
10000 |
REPEAT
C
C
A
G
G
G
T
T
A
C
C
C
A
G
G
G
A
G
A
A
G
T
G
G
G
G
T
T
G
G
G
C
T
C
C
C
A
A
G
A
G
C
T
G
G
C
C
T
G
T
10050 |
NOT SCANNED
A
G
C
C
A
G
A
A
A
A
G
A
T
A
T
C
A
A
G
A
T
G
C
G
C
C
C
A
G
C
A
G
T
G
G
T
T
A
C
T
A
C
C
A
G
G
T
T
G
T
10100
A
T
T
T
G
G
C
G
G
G
G
G
A
T
G
G
G
C
T
G
G
A
A
T
T
T
T
G
A
T
T
T
T
T
A
G
C
A
A
C
C
A
C
A
A
T
T
G
T
T
10150 |
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
G
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
10200
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
C
G
G
C
T
C
A
T
T
G
C
A
A
A
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
10250
T
C
A
C
G
C
C
A
T
T
C
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
A
A
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
G
C
10300
C
C
G
C
T
A
C
C
A
C
G
C
C
C
G
G
C
T
A
A
T
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
10350 |
var(10304):[T:0.27]
|
var(10310):[T:0.01]
|
NOT SCANNED
C
A
C
C
A
T
G
T
T
A
G
T
C
G
G
G
A
T
G
G
T
C
T
C
G
A
T
C
T
C
C
T
G
A
C
C
T
G
G
T
G
A
T
C
T
G
C
T
C
A
10400
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
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
C
A
C
C
C
G
G
10450 |
var(10405):[A:0.38]
C
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
C
T
G
A
A
A
T
G
G
A
G
T
T
T
C
A
C
T
C
T
T
G
T
T
G
C
C
C
A
A
G
10500 |
REPEAT
|
NOT SCANNED
C
G
G
G
A
G
T
G
C
A
A
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
G
G
G
10550
T
T
C
A
G
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
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
C
A
10600
C
G
C
G
C
C
A
C
C
A
A
G
C
C
C
A
G
C
T
A
C
T
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
A
A
C
G
A
G
G
T
T
10650
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
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
A
T
G
A
T
C
T
G
C
10700
C
T
G
C
C
T
C
A
T
C
A
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
10750
C
G
G
C
C
T
A
G
T
A
T
T
G
G
C
A
A
T
T
C
T
T
A
T
G
A
C
T
G
A
C
C
A
T
A
A
T
G
A
A
G
C
A
A
A
T
C
T
A
T
10800
A
A
T
C
T
G
A
T
A
C
C
T
C
A
C
C
T
C
C
C
G
G
C
T
G
C
C
C
T
G
T
A
T
C
C
T
G
T
T
A
T
C
C
C
A
G
C
C
C
C
10850 | Exon 6
P 202
G
A
G
G
A
A
G
C
T
G
G
G
C
G
G
T
A
C
C
T
G
G
A
G
A
C
C
T
A
C
A
A
G
G
C
C
T
A
T
G
A
G
C
A
G
A
A
A
C
C
10900
E E A G R Y L E T Y K A Y E Q K P 219
A
G
C
G
G
A
C
C
T
C
C
T
G
A
T
G
G
A
G
A
A
G
C
T
A
G
A
G
C
A
G
G
A
C
T
T
C
G
T
C
T
C
C
C
G
G
G
T
G
A
10950
A D L L M E K L E Q D F V S R 234
G
G
C
C
A
C
C
T
C
A
C
C
T
C
C
C
A
T
C
C
C
TGCCTGGGC CTCCCCGCAG CTCCTGGGTG
11000
GTTGAGCTTC AGTTCCAATT TTAAGGCACT GTCCATTCAT CCCTGGGCCT
11050
CGTCTTTCCT GGCCCATCCC AC
C
G
A
A
A
C
T
G
C
A
G
C
T
A
G
A
G
G
G
G
T
T
T
T
C
C
T
G
11100 |
REPEAT
A
G
C
A
C
A
A
A
T
C
T
G
C
T
G
C
T
A
C
C
C
T
C
C
C
T
A
G
C
T
C
A
A
A
A
T
C
C
T
C
C
C
A
T
G
G
C
T
C
C
11150
C
C
A
G
T
A
C
C
C
C
G
A
G
A
G
A
A
A
G
C
C
C
A
G
A
C
T
T
C
T
C
A
C
C
A
G
G
C
T
C
A
A
C
A
A
G
G
G
C
C
11200
C
G
T
C
A
G
G
C
T
C
A
G
A
A
G
C
C
C
C
G
T
G
G
C
C
T
C
C
A
C
T
T
C
A
C
A
C
T
T
C
A
C
T
T
C
T
C
C
C
A
11250 |
NOT SCANNED
G
G
C
C
T
A
G
C
T
C
G
C
T
T
C
T
C
C
A
A
G
C
A
C
T
T
G
C
C
C
C
T
T
C
T
G
T
T
C
C
C
T
C
T
G
C
C
C
A
A
11300
T
T
A
C
C
T
G
C
C
T
A
A
T
T
C
C
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
C
A
C
T
C
T
C
T
11350 |
REPEAT
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
A
C
A
T
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
11400
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
G
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
11450
T
A
C
A
G
G
T
G
C
C
C
A
C
A
A
C
C
A
T
G
C
C
T
G
T
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
T
A
G
T
A
A
A
G
11500 |
var(11476):[T:0.01]
A
T
G
G
G
G
T
T
T
C
A
G
T
G
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
G
G
11550
T
G
A
T
C
C
T
C
C
C
G
C
C
T
C
G
G
C
C
T
C
G
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
T
T
A
G
G
C
A
T
G
A
G
C
C
11600
A
C
C
A
C
G
C
C
C
A
G
C
C
TGAGATG ACTTTTTAAT CAGTTGGGAA
A
A
A
A
A
G
C
G
T
T
11650 |
REPEAT
T
A
T
T
G
A
G
T
G
C
T
T
C
C
T
G
C
A
C
G
C
C
A
G
G
C
A
G
T
C
T
G
G
G
G
A
C
A
C
A
G
C
T
G
T
G
A
C
C
C
11700
A
G
C
C
C
T
G
C
C
C
T
C
C
T
A
G
G
C
T
C
A
GTCTTGCTG GCCTTTCTTC TTCCGACACA
11750
CTCCTGCCTC CACCCTTTCC AG
G
T
G
A
C
T
G
A
A
T
G
T
C
T
G
A
C
C
A
C
C
G
T
G
A
A
G
T
11800 | Exon 7
V T E C L T T V K 243
C
A
G
T
C
A
A
C
A
A
A
A
C
G
G
A
C
A
G
T
C
A
G
A
C
C
C
T
C
C
T
G
A
C
C
A
C
A
T
T
T
G
G
A
GTAAGG
11850
S V N K T D S Q T L L T T F G 258
AATGGCTCCC CTGCCCCATA GGCATTTCTG TCCCCTTGCC TTTTTTAGAA
11900
AGCCTGTCAC CCATTTCCTT CCATCTCCCT GCCCACCC
C
T TGCCCGTCCT
11950 |
var(11939):[A:0.01]
GCCTTCCCAC AGGCCCTCAT CTCCCCTGGG GAATATCTGA GGCCCCTCCT
12000
CAGCTGGGAC AGGGGAGGCT TTTGTGCTCA ACTGCCCTGA CCCCTCGCTT
12050
TCACCTTTCA G
T
C
T
C
T
G
G
A
A
C
A
G
C
T
C
A
T
C
G
C
C
G
C
A
T
C
A
A
G
A
G
A
A
G
A
T
C
T
G
12100 | Exon 8 |
var(12079):[T:0.01]
|
var(12083):[A:0.01]
S L E Q L I A A S R E D L 271
G
C
C
T
T
A
T
G
C
C
C
A
G
G
C
C
T
G
G
G
C
C
C
T
C
A
G
A
A
A
GTAAGAGCTC TGGGAAAGAA
12150
A L C P G L G P Q K 281
CCCAAGGAGT TGGGGGAAGG AGAGAGCCCC AAATAAACAC AACCTGAGAC
12200
CCCAAAGTTT TAAGGTGAAA AAAGAACCAA A
G
A
C
C
A
G
A
C
A
C
A
G
T
G
G
C
T
T
C
12250 |
REPEAT
C
G
C
C
T
G
T
A
A
T
C
C
C
A
A
C
A
T
T
T
T
G
G
G
A
G
G
C
C
A
A
G
G
C
G
G
G
A
G
G
A
C
T
G
C
T
T
G
A
G
12300
G
C
C
A
G
A
A
G
T
T
G
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
G
T
G
G
A
C
A
C
C
T
C
A
T
T
T
T
T
A
C
T
A
A
12350
A
A
A
T
A
A
A
A
A
A
A
A
C
T
A
G
C
T
G
G
G
C
A
T
G
G
T
G
G
T
G
T
G
A
G
C
T
T
G
C
T
A
C
G
T
G
C
C
T
G
12400
T
A
G
T
C
T
C
A
G
C
T
A
C
T
G
G
G
G
A
G
A
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
G
C
T
T
G
A
G
C
C
C
A
G
G
12450
A
G
G
T
T
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
A
T
A
A
G
C
A
T
G
T
T
A
C
T
A
C
G
C
T
C
C
A
G
C
C
T
G
G
G
12500 |
var(12478):[G:0.28]
|
var(12488):[A:0.01]
T
G
A
C
A
G
A
G
C
G
A
T
C
C
T
G
T
C
T
C
A
A
A
GCAGAAG CA
A
T
C
C
A
A
T
G
A
G
G
A
A
G
A
A
T
G
12550 |
REPEAT
A
A
A
C
T
A
G
A
T
A
G
C
T
A
T
C
T
C
T
C
G
C
C
A
T
A
T
A
C
A
A
A
A
A
T
C
A
A
A
T
T
A
A
A
A
T
G
G
A
T
12600
T
A
C
A
G
A
C
T
T
A
A
A
T
C
T
A
A
G
A
C
C
T
C
A
A
T
G
C
A
T
G
A
A
A
C
G
T
C
T
A
C
A
A
G
A
A
A
A
C
A
12650 |
var(12624):[C:0.29]
T
T
G
A
G
A
A
G
C
T
C
T
C
C
A
G
G
A
C
A
T
T
G
A
A
C
T
G
G
G
C
A
G
A
G
A
T
T
T
C
T
T
G
A
G
T
A
A
T
G
12700
C
C
C
T
A
T
A
A
G
C
A
T
A
G
G
A
A
A
C
T
A
A
A
G
C
A
A
A
A
T
G
G
A
C
A
A
A
T
G
G
G
A
T
C
A
C
A
T
C
A
12750 |
NOT SCANNED
A
A
T
T
A
A
A
A
A
G
C
T
T
C
T
A
A
G
C
C
A
G
G
T
G
C
G
G
T
G
G
C
T
T
G
G
G
C
C
T
G
T
A
A
T
C
C
C
A
G
12800 |
REPEAT
C
A
C
T
T
T
G
A
G
A
G
G
C
T
G
A
G
G
C
G
G
C
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
G
G
A
12850
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
A
G
A
C
A
C
C
C
C
A
T
C
T
T
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
12900
G
T
A
G
C
C
A
G
G
T
A
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
A
A
G
G
C
T
12950
G
A
G
G
C
A
G
G
A
C
A
A
T
C
G
T
T
T
G
A
A
C
C
C
G
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
13000
G
A
T
A
G
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
A
C
A
A
T
A
A
G
A
G
T
G
A
A
A
C
T
C
T
A
T
C
T
C
13050
A
A
A
A
A
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
T
A
A
A
A
G
G
C
T
T
C
T
G
C
A
C
A
G
C
A
A
A
C
A
T
T
13100 |
NOT SCANNED
|
REPEAT
C
C
A
C
A
A
A
G
T
G
A
A
G
A
G
A
C
A
A
C
A
C
A
C
A
G
G
A
T
G
G
G
A
G
A
A
A
A
T
A
T
C
T
G
C
A
A
A
C
T
13150
A
A
C
C
A
T
C
T
G
A
C
A
A
G
G
A
A
T
C
A
A
T
A
A
T
C
A
G
A
A
G
A
T
A
A
G
A
G
T
T
C
T
A
A
C
A
A
C
T
C
13200
T
A
T
A
G
G
A
T
A
A
A
A
T
A
T
A
A
T
A
A
T
C
C
A
A
T
C
A
A
A
A
A
G
T
G
G
G
C
A
A
A
A
T
A
T
T
T
G
A
A
13250
T
T
A
A
C
A
T
T
T
C
T
C
A
A
A
A
G
A
C