RAD51L1 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
GAAACCAACT CTTGAAGTAA CGGCTTACTA GGTTTGCTCA CCACAGCTGC
50
CTTACACCAA GCCTTTTGTT TGGTTTCCCT GGTGTGCTTT AATCACAGAC
100
TCTCAGCTTT CCTCACTATG TGTGTTTCAG GTTTAGTAAT TTCATTCAGC
150
ATTTCCCAAA CTATTTAATC ACCAAAGGGT GGTGAAAAGA GCAAGTTAAA
200
ACAAACAAAA CGTTTTCTTC CAAAAACTCT TCTGTGATTG GTGGATTGTC
250
CTCGATTCCT GAGAAAAGTA ACATGGCTTT CTGGCCCATT AAGGTTTTTT
300
TTTTTTTTGA GGCAATGTCT GGCTC
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
350 |
REPEAT
T
G
G
G
A
T
C
A
C
A
G
G
T
G
C
C
T
G
C
C
A
C
C
A
T
G
T
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
G
T
T
T
A
G
400
T
A
G
A
G
G
C
G
G
G
G
T
T
T
C
G
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
T
T
C
G
A
A
A
T
C
C
T
G
A
G
C
450
T
C
A
A
G
T
G
A
T
C
T
G
C
C
T
G
C
C
T
C
A
G
C
A
T
T
C
C
G
A
A
G
T
G
A
A
A
C
C
G
C
C
T
T
T
G
C
A
A
A
500 |
var(463):[G:0.05]
|
REPEAT
A
T
T
A
T
A
A
C
T
G
A
G
G
A
A
A
T
T
A
T
G
A
C
A
G
T
G
A
A
A
G
A
A
A
T
C
A
G
A
C
C
T
A
A
C
C
G
A
C
T
550
C
T
A
T
C
T
T
G
C
T
T
C
T
A
A
C
C
G
T
T
A
A
G
C
T
G
T
C
C
T
T
G
T
T
C
A
T
T
C
C
T
G
G
G
C
G
T
A
G
G
600
C
T
G
A
A
C
T
A
A
C
T
T
T
G
G
G
G
A
G
G
A
A
T
T
C
A
G
T
T
C
A
T
G
G
T
T
T
G
A
C
T
C
T
G
A
A
A
C
A
A
650 |
var(620):[A:0.01]
A
A
T
T
G
A
T
A
A
C
A
G
C
C
C
T
T
T
C
C
G
A
A
A
A
G
A
C
C
C
A
C
T
T
C
T
T
G
C
C
T
G
G
G
G
A
C
C
A
G
700 |
var(655):[A:0.05]
T
C
T
G
C
C
T
T
T
G
C
A
G
G
A
C
T
A
A
C
A
A
A
T
T
A
G
C
T
A
C
A
A
G
T
T
T
A
G
A
A
A
T
T
A
C
A
G
T
T
750 |
var(720):[T:0.19]
T
A
G
A
G
G
T
C
A
T
G
C
A
G
C
C
T
C
T
G
G
C
T
C
C
A
A
G
A
G
T
C
T
G
A
A
C
C
T
C
C
C
C
A
A
A
T
T
G
C
800 |
var(754):[G:0.31]
T
C
C
C
G
G
G
G
G
T
G
A
C
A
T
C
A
C
T
A
T
T
G
C
A
A
G
C
C
C
T
A
A
G
A
T
C
A
G
T
G
C
T
T
G
A
G
A
T
A
850 |
var(802):[T:0.05]
T
T
T
T
G
T
A
G
A
C
C
C
T
G
C
A
C
T
C
C
A
T
G
G
A
T
C
A
G
C
T
G
A
C
A
C
C
A
C
T
C
A
G
A
C
C
A
G
T
A
900 |
var(860):[T:0.04]
A
T
T
T
G
G
C
G
C
A
A
C
C
A
G
T
T
T
T
G
C
C
A
T
C
A
C
A
C
C
C
A
G
G
A
A
C
A
G
A
A
G
A
C
A
T
T
A
A
G
950
A
A
A
A
C
C
T
C
A
C
T
T
C
G
A
C
C
C
C
T
T
A
T
G
A
T
T
C
C
A
T
C
T
C
C
A
A
C
C
T
G
A
C
C
A
A
T
C
A
G
1000
C
A
C
T
C
C
C
C
A
C
T
T
C
C
T
A
A
G
C
C
C
C
T
A
C
C
A
G
C
C
A
A
A
T
T
A
T
T
G
G
T
A
A
A
A
A
C
T
C
C
1050 |
var(1013):[T:0.01]
G
A
T
C
C
G
C
A
A
A
T
G
C
T
C
G
G
G
A
C
A
A
C
T
G
A
T
T
T
A
A
G
T
A
A
C
A
A
T
A
A
A
A
C
T
T
C
A
G
T
1100
C
T
T
C
C
G
C
A
C
A
G
C
T
G
G
C
T
C
T
G
C
G
T
G
A
A
T
T
A
C
T
C
T
T
T
C
T
G
C
A
T
T
G
C
A
A
T
T
C
C
1150
C
C
T
G
T
C
C
T
G
A
T
A
A
A
T
C
G
G
T
T
C
T
G
T
C
T
A
G
G
C
A
G
C
T
G
G
T
A
A
G
G
T
G
A
A
C
C
C
A
T
1200
C
G
G
G
C
A
G
T
T
T
C
A
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
C
G
C
C
C
A
G
1250 |
REPEAT
|
var(1235):[A:0.01]
C
C
TATT
T
T
T
T
G
T
A
T
T
T
T
T
T
T
G
T
A
G
A
G
G
C
G
G
A
G
G
G
G
T
G
G
G
G
G
A
G
G
G
T
G
T
C
T
1300 |
REPEAT
C
A
C
T
A
T
G
T
T
G
C
C
A
A
G
G
C
T
A
G
T
C
T
C
G
A
A
C
T
C
C
C
A
G
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
1350 |
NOT SCANNED
C
G
C
C
T
C
G
G
T
C
T
C
C
C
A
A
A
G
T
G
C
T
G
A
A
A
T
T
A
C
G
G
G
C
G
T
G
A
G
C
C
A
C
T
G
C
G
T
C
T
1400
G
G
C
C
C
C
T
T
T
A
A
G
C
C
A
T
T
G
T
G
A
A
A
A
G
T
G
A
T
G
A
T
A
C
A
C
G
A
A
A
A
A
A
A
A
G
A
T
T
T
1450
C
C
A
G
G
G
C
C
G
A
G
A
G
C
G
G
T
G
G
A
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
G
C
T
T
T
G
G
G
A
G
G
1500 |
REPEAT
C
C
G
A
A
G
C
G
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
G
G
A
A
A
T
C
G
A
G
A
C
C
A
T
C
C
T
G
G
C
T
A
A
C
1550
A
C
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
C
G
T
G
1600
G
T
G
G
T
G
G
G
A
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
A
G
G
G
A
G
G
T
T
G
A
G
G
C
A
G
G
A
G
A
A
T
1650
G
G
C
G
T
G
A
A
C
C
C
A
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
C
T
G
1700
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
C
C
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
1750
A
G
A
A
A
G
A
A
A
A
A
A
G
A
A
A
AATT TCCAAACAGG GTGTTCCCTT GTTTCACATT
1800
CTCTTTGGTG ATGGTCCTGC AACAGATTTT GATAATCACT ATATTGAGAA
1850
ACTGCTTCAG ATTCGATCTG TTAGGCTGAT CATAGTATTA ACTACAATTC
1900
CCAGCAAGCC GCGGAGCCAA CCTGGGCCTC TGCCGGCCTC TGATTGGATA
1950
CAGTAGCCAG AATGACGACT CAATCAGTGC TTCGGTTGTT GCTTTGCGGC
2000
G
T
T
T
T
C
C
G
C
G
G
G
G
A
A
A
C
T
G
T
G
T
A
A
A
G
G
G
T
G
G
G
G
A
A
A
C
T
T
G
A
A
A
G
T
T
G
G
A
T
2050 | Exon 1 |
UTR
G
C
T
G
C
A
G
A
C
C
C
G
GTACTGGA AAGTTTCATG TGGGGTGCCG TTGTGGGGAA
2100
GTGGGGTTCG CTCATTATTT CCTGCTCCTT CCCTAGGCTC GTGGGTTTCG
2150
ATATTGGGGG AGCGGAGATT TTCTCTTGGG TGCTGGTCAC
G
C
C
C
C
C
T
T
A
A
2200 |
NOT SCANNED
G
A
C
T
C
G
G
G
A
T
C
G
T
C
A
C
T
A
A
G
A
A
C
C
C
C
G
C
T
G
T
G
A
A
T
T
G
G
G
G
G
A
G
C
T
T
C
G
G
G
2250
C
C
T
T
C
T
T
T
T
G
G
T
G
G
G
G
A
A
T
G
C
T
T
G
G
A
A
G
C
T
G
C
T
C
A
T
T
G
T
T
G
G
A
A
A
A
A
G
C
T
2300
C
T
T
T
T
T
A
G
G
G
G
A
T
T
C
T
G
G
G
T
G
A
T
G
T
T
T
C
C
G
C
C
T
G
T
T
G
C
T
G
C
C
C
A
T
C
T
T
C
C
2350
T
C
C
C
C
A
G
C
C
C
C
T
T
C
C
C
G
C
T
T
C
G
G
G
C
A
G
C
C
T
G
T
C
A
T
T
A
G
G
G
G
A
A
G
T
T
G
A
G
G
2400
G
A
C
T
C
T
C
C
C
A
C
T
T
C
A
G
G
T
G
G
T
G
T
T
G
G
A
G
A
G
C
G
T
G
G
A
A
T
C
T
G
G
A
G
T
C
C
G
G
T
2450 |
REPEAT
C
C
C
T
G
G
A
T
T
C
G
A
A
T
G
C
G
A
G
C
T
T
C
A
C
A
C
C
A
A
T
T
G
T
C
A
G
C
T
G
T
T
T
A
A
C
T
T
T
G
2500
C
C
C
A
A
G
T
T
T
C
T
C
A
A
C
T
A
G
T
T
A
C
C
T
C
A
G
T
A
T
C
C
T
T
A
T
C
T
G
T
A
A
A
G
T
G
A
G
G
T
2550
A
A
A
A
T
A
T
C
C
G
A
A
G
C
C
T
T
T
G
G
A
A
C
A
G
T
G
T
G
G
C
A
C
G
T
A
A
T
A
A
G
G
G
C
T
C
A
A
T
A
2600
A
A
T
A
T
T
A
G
C
T
A
A
T
A
T
T
G
T
T
C
C
T
A
A
A
C
A
G
T
T
G
T
T
G
A
A
C
A
T
C
T
A
A
C
A
T
G
A
A
G
2650
A
A
T
T
T
T
C
T
T
T
T
C
T
T
G
G
T
G
G
T
A
A
G
G
A
G
G
A
C
A
G
G
G
T
T
C
A
T
T
C
T
C
C
A
G
G
G
T
T
G
2700
A
C
C
G
T
C
T
C
C
C
C
T
C
A
T
G
T
G
C
A
A
T
A
C
A
C
A
T
A
C
G
T
G
C
T
T
T
C
G
C
G
C
A
C
A
C
A
T
A
C
2750
A
C
C
G
C
A
G
G
A
A
T
T
T
A
C
G
T
G
C
T
C
C
G
G
T
G
G
G
G
G
C
A
A
A
C
A
A
A
C
T
T
G
C
A
A
G
C
C
A
T
2800
A
A
T
A
G
T
A
T
T
T
T
G
A
T
A
A
G
A
T
T
A
T
C
G
A
A
T
A
G
A
T
A
T
G
T
G
C
G
A
A
G
T
T
G
A
T
G
A
G
A
2850
A
C
A
T
T
G
G
A
G
A
G
G
A
A
A
A
G
A
C
T
T
G
A
C
T
C
T
G
G
G
G
A
A
G
G
T
T
T
T
G
T
G
G
A
G
G
G
A
A
G
2900
T
C
A
G
G
G
A
G
A
C
A
G
G
A
T
G
C
G
T
G
A
C
C
T
A
C
C
A
A
T
A
C
A
C
A
T
A
C
C
A
T
G
T
G
G
C
T
G
G
A
2950
G
G
G
C
A
G
A
T
C
A
T
G
T
G
A
G
A
G
T
C
A
T
T
A
A
A
T
G
A
T
G
A
T
T
G
C
T
G
A
C
C
T
T
A
A
G
T
A
C
T
3000 |
REPEAT
A
T
G
T
G
C
C
A
C
G
C
A
C
T
C
C
C
C
G
A
G
T
C
C
T
T
T
A
A
C
C
T
C
C
A
C
T
A
C
A
G
T
C
A
T
A
T
G
A
A
3050
G
T
A
G
T
A
A
A
T
T
C
A
T
A
T
G
A
C
T
G
T
A
A
A
A
C
A
A
G
G
G
T
T
T
T
A
A
G
G
A
A
A
T
T
A
A
G
A
C
A
3100
C
T
G
A
G
A
G
G
T
G
A
A
G
T
A
A
C
T
G
C
C
A
G
G
A
A
G
G
A
T
A
G
G
A
A
C
T
G
A
A
C
G
T
T
G
C
A
A
T
G
3150
T
G
A
T
G
T
A
T
G
A
G
T
G
A
G
A
A
G
G
A
A
G
T
G
A
G
G
G
A
C
C
A
A
T
T
T
T
T
G
A
T
G
T
T
T
T
T
C
T
C
3200
T
G
C
G
A
C
C
C
T
A
A
G
A
A
G
T
T
T
G
G
A
A
T
T
T
A
T
C
C
T
G
T
G
G
T
C
T
A
C
C
A
G
T
C
C
C
A
T
G
G
3250
G
A
A
G
T
G
T
T
A
A
A
G
G
A
T
A
A
T
C
G
T
G
A
C
T
T
T
T
T
A
G
G
A
A
G
C
T
A
C
T
C
A
A
G
G
C
A
G
G
A
3300
T
T
G
T
G
A
C
A
C
T
G
A
T
C
T
G
A
C
T
T
T
T
G
C
A
G
G
C
G
A
A
T
T
T
G
G
G
G
C
T
T
C
T
T
C
C
T
G
T
C
3350
T
G
C
T
T
C
C
A
T
A
G
C
A
C
T
T
T
T
A
A
A
T
A
G
C
A
A
T
T
G
T
A
A
T
G
C
T
T
A
C
T
G
C
A
T
G
G
C
T
G
3400
T
A
G
T
T
A
T
T
T
G
T
G
T
G
T
A
C
C
T
C
T
C
T
T
T
T
C
A
T
C
T
C
A
A
C
T
A
T
G
A
G
T
A
T
T
C
A
A
A
G
3450
G
G
G
A
G
G
G
A
A
T
A
T
G
C
T
T
A
A
A
T
G
A
T
T
C
T
T
G
T
A
C
C
C
C
A
G
A
C
C
T
C
A
G
C
A
G
G
G
T
G
3500
T
G
T
A
T
T
T
A
A
A
T
G
C
C
T
G
T
G
G
A
A
G
G
A
G
T
A
A
A
T
T
A
A
G
G
A
A
C
A
A
A
T
G
A
A
T
G
G
A
G
3550
T
G
G
C
C
A
G
A
A
A
C
A
A
T
A
T
G
C
A
A
T
A
G
T
C
C
A
G
G
C
A
A
G
T
G
A
T
G
G
G
A
G
T
G
G
C
C
C
T
A
3600
T
T
A
A
G
G
C
A
G
A
A
A
T
G
G
C
A
G
A
A
T
T
G
G
T
T
G
T
T
G
T
T
A
A
A
G
T
C
C
T
T
G
T
A
G
T
T
T
A
G
3650
A
A
T
T
T
A
T
A
G
T
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
T
T
T
G
T
T
T
T
T
G
A
T
A
G
G
G
T
C
T
C
A
G
T
3700 |
REPEAT
C
T
G
T
T
C
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
C
C
A
C
A
G
C
T
C
A
C
T
G
C
A
G
G
C
T
3750
C
G
A
C
C
T
C
C
T
G
G
G
C
T
C
A
G
G
T
G
A
T
C
C
T
C
T
C
A
T
C
T
C
A
G
C
C
T
C
C
T
G
G
G
T
A
G
C
T
A
3800
G
G
A
C
T
A
C
T
A
C
A
G
G
T
G
T
G
C
G
G
C
A
C
A
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
T
3850
T
G
T
G
G
A
G
A
C
A
G
G
T
T
C
T
C
T
C
T
A
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
3900
G
C
T
C
A
A
G
C
A
A
T
T
T
G
C
C
T
G
C
C
T
T
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
G
T
A
G
G
C
3950
G
T
G
A
G
C
T
A
C
C
T
T
G
T
G
T
G
G
C
C
T
A
T
G
G
T
T
C
T
T
T
T
C
T
T
T
C
T
C
C
T
T
C
T
T
T
T
T
T
T
4000
T
T
T
T
A
A
A
T
T
G
A
A
T
T
T
A
T
C
A
G
T
C
T
A
A
A
T
G
G
T
G
T
C
A
T
T
A
C
T
T
G
A
A
A
C
T
A
C
C
T
4050
G
A
T
C
T
G
A
A
A
A
G
A
C
A
C
T
A
G
G
C
A
A
T
A
T
T
A
T
A
G
C
A
G
G
T
A
T
C
A
C
T
T
G
G
T
T
T
T
C
T
4100
A
C
T
G
G
G
G
G
A
A
A
C
A
A
G
T
C
A
T
T
G
C
T
A
A
C
A
A
A
T
T
C
C
C
A
T
G
G
A
G
A
G
A
A
A
T
G
A
G
G
4150
A
G
G
A
T
G
T
A
T
T
T
T
T
G
T
T
T
G
T
G
A
G
A
G
G
T
G
T
G
T
A
T
G
T
A
T
G
T
A
T
A
T
T
G
T
G
T
G
T
G
4200
C
G
T
G
T
G
T
G
T
G
T
G
T
G
T
G
A
G
A
G
A
G
A
G
A
G
A
T
T
G
A
T
T
C
A
G
T
C
T
G
A
T
T
C
A
G
A
G
A
A
4250
T
T
T
A
G
G
T
G
T
T
A
A
A
T
A
G
A
A
A
T
T
T
G
G
G
C
C
A
T
G
G
T
A
T
T
G
G
A
A
A
T
A
A
A
C
A
A
A
T
A
4300
T
A
T
A
C
A
T
T
C
T
C
A
G
T
A
T
A
C
A
T
A
T
A
T
T
T
T
C
A
T
T
C
C
A
A
A
A
T
G
T
T
A
C
T
T
C
T
T
T
T
4350
C
T
G
A
T
A
A
C
T
A
T
A
T
T
G
C
T
T
T
A
T
T
C
C
T
T
G
G
A
T
C
C
A
T
G
A
A
G
A
G
T
T
C
C
T
G
T
T
T
C
4400
A
G
T
T
C
G
T
T
C
C
A
G
A
G
G
A
T
A
C
T
T
C
T
T
T
A
C
C
A
T
C
T
C
A
A
T
G
A
G
A
T
A
T
A
C
A
G
C
T
T
4450
C
T
C
C
T
T
T
G
T
A
T
G
C
A
T
T
A
A
G
A
G
A
C
T
C
A
C
A
G
T
A
A
T
T
C
T
T
T
T
T
T
A
G
C
T
C
T
G
T
G
4500
A
A
G
A
T
A
A
A
T
C
T
T
T
C
A
T
G
A
G
C
C
T
C
A
T
T
T
A
C
C
C
C
T
A
G
C
A
A
G
G
T
A
C
A
A
T
A
G
T
G
4550
A
A
A
T
T
T
A
A
C
T
G
C
A
T
G
T
G
A
G
A
A
T
A
T
A
A
G
C
A
G
C
T
A
G
T
G
T
A
A
T
A
A
A
G
A
A
C
A
T
T
4600
T
T
G
G
G
C
C
A
G
G
T
C
T
G
A
T
C
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
A
G
G
A
G
G
T
4650 |
REPEAT
C
A
A
G
G
C
G
A
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
T
T
G
G
G
C
A
A
4700
C
A
T
G
G
C
A
A
A
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
G
G
G
C
A
G
G
C
A
T
G
G
4750 |
REPEAT
T
G
T
C
G
A
C
C
C
T
G
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
A
C
A
T
G
G
T
G
G
T
4800
G
C
A
C
G
C
T
T
G
T
G
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
A
G
G
A
G
G
A
T
T
G
C
T
T
4850
G
A
G
C
C
C
A
G
G
A
G
G
G
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
C
G
A
G
C
C
A
C
T
G
C
A
C
T
C
4900
C
A
G
C
T
G
G
G
G
T
G
A
C
A
G
A
G
C
C
A
G
A
C
C
T
G
T
C
T
C
G
C
T
C
T
C
T
C
T
C
T
C
T
C
T
C
T
C
T
A
4950
T
A
T
A
T
A
T
A
T
T
T
A
A
A
A
A
G
A
A
C
A
T
T
T
T
A
A
T
A
C
T
G
C
A
G
T
G
A
T
A
A
A
A
T
C
T
C
A
T
T
5000
T
G
A
T
T
C
A
G
A
A
G
G
T
G
T
G
C
T
C
T
G
A
C
T
C
C
T
A
G
A
A
A
A
A
G
G
A
A
G
A
G
T
T
A
A
A
T
A
T
G
5050
A
T
T
A
T
G
G
ACT TG
C
A
G
T
A
G
A
G
T
G
T
A
A
T
G
G
T
T
A
A
G
A
G
G
A
T
A
G
G
T
T
T
C
A
G
A
A
T
5100 |
REPEAT
T
A
G
A
C
T
G
C
C
T
G
G
A
T
T
C
A
A
A
T
T
C
T
G
G
A
T
C
A
G
T
T
A
T
T
T
A
T
G
T
T
T
T
C
T
G
G
T
G
A
5150
C
A
A
T
G
G
A
C
T
A
G
C
T
A
A
C
T
T
T
T
C
C
A
G
G
C
T
T
T
A
G
T
T
T
T
C
T
C
A
T
A
T
G
T
A
A
A
A
A
A
5200 |
var(5175):[A:0.04]
G
G
G
G
C
C
A
A
T
A
A
T
C
T
A
C
T
T
T
C
C
T
T
C
T
A
G
G
G
C
T
A
T
T
G
A
G
A
A
G
A
T
T
A
A
A
T
G
T
G
5250
A
T
A
A
T
T
T
A
G
A
T
A
A
G
T
T
T
T
G
G
A
A
C
A
G
T
G
C
C
T
G
G
T
A
T
G
T
G
G
T
A
G
G
T
G
C
T
C
C
A
5300 |
var(5282):[A:0.03]
T
A
A
A
T
A
T
ACC TATTGCCGTT ACAGTGCAAT GTAAATTGTT ACAGTGCAAT
5350
AGACTTTCTA GTAGTTCTGT TTGGAAATAT GCCTTGAAAG TTAATTACAT
5400
TTCCAAATAA AATTTATACA TGCATTGAAC ATTTTAAGAT GCTCTACAAA
5450
TGTGAAGTGG TACTATATTC ATGTAGTAAA TATCAATTAA TTGTGTGAAA
5500
TTATATTTGA GGTTGCCTTG TAGATTTTCT
A
TGTGCCTGT TTGACGAACA
5550 |
var(5531):[G:0.01]
ATTGTCCCTC CTATTTAAAA CATTTAAAAA GGTTCTATAG CATTC
C
T
T
T
A
5600 |
var(5596):[:0.01]
TCAGTAATAT TTTTAACACA ATATGTTTCA TTTTGCATAT GGAGAAACTT
5650
GAGGAATTTT TAATTTTGTT TTGGATAGCC TATTCACTAT CACTTATGTT
5700
ATATTCTGTT GTTTTTTTCA TGGTTCTTCT TTTCTTTGCT GGATCTGGAG
5750
G
C
A
T
G
G
G
T
A
G
C
A
A
G
A
A
A
C
T
A
A
A
A
C
G
A
G
T
G
G
G
T
T
T
A
T
C
A
C
A
A
G
A
G
C
T
G
T
G
T
5800 | Exon 2 |
UTR
|
var(5777):[A:0.01]
M G S K K L K R V G L S Q E L C 16
G
A
C
C
G
T
C
T
G
A
G
T
A
G
A
C
A
T
C
A
G
A
T
C
C
T
T
A
C
C
T
G
T
C
A
G
GTAA ATTTTATTTA
5850
D R L S R H Q I L T C Q 28
ACATTTTTAT
T
GA
T
AAGTTT TATGCACAAG TTAACTTTAT ACCTTAATAC
5900 |
var(5861):[C:0.02]
|
var(5864):[G:0.23]
CTCTTAAACT TGAAATA
T
GA AAAT
G
TAGGC TTACAAAAAA AAGATAAATG
5950 |
var(5918):[C:0.24]
|
var(5925):[A:0.03]
ATGGT
G
CTTT TCCATAGGCT AATTGTAAAT ATCAAGCCTC CTTGGGTGCA
6000 |
var(5956):[A:0.23]
TTTCCAACTG C
T
ATTTCATT TACCCAAATT TAGTATTTTT GCATTTTGAG
6050 |
var(6012):[G:0.32]
GGGAAAGTGG TCACGGCATA AGGTGAAGTA ACAGCTTTAC TGTTTTATAG
6100
TTACATGAGA AATAGGACTC AAATGAGGAG ATACTATTCA ACATGTATCA
6150
TTTCTCTTAA AAGCAAAAGA AATTAATAGA CCATTTTCTT ATTGATGGAG
6200
CATGAGAAAT ATATAGAG
C
G GATCTTGCAT TTTTAAGCAA GGTGGTGAAG
6250 |
var(6219):[T:0.03]
CAAATCCTCC TTAGCAGGGT AAATAAGATT TAAAGGTTTT GGTTGGTTGT
6300
TT
T
T
G
T
T
C
T
T
T
G
T
T
G
T
T
T
T
T
G
A
G
A
C
T
A
G
G
T
T
C
T
C
A
T
G
C
T
G
C
C
C
C
A
G
C
T
G
A
6350 |
REPEAT
|
NOT SCANNED
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
T
A
A
G
C
A
A
T
C
C
T
C
C
A
G
C
C
T
C
A
A
C
T
C
C
C
A
G
C
T
A
G
C
6400
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
A
C
A
C
C
A
C
T
G
T
G
C
C
T
G
G
C
T
A
G
A
T
T
T
A
A
G
G
T
T
T
T
A
T
C
6450
T
T
A
G
G
A
T
T
T
T
A
T
C
C
T
T
T
T
T
T
T
G
T
T
T
G
T
T
T
G
T
T
T
A
G
A
G
T
C
A
G
T
G
T
C
T
C
A
C
T
6500 |
REPEAT
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
A
C
A
G
T
G
G
T
G
C
C
A
T
A
T
C
G
G
C
T
C
A
C
T
G
C
A
A
T
C
T
6550
C
C
T
C
C
T
C
C
C
C
G
G
T
T
C
A
A
G
T
G
A
T
T
C
T
C
C
T
G
C
T
T
C
C
A
T
C
T
C
C
T
G
A
G
T
A
G
C
T
G
6600
G
G
A
T
T
A
C
A
G
G
C
A
C
A
T
G
C
C
A
C
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
G
A
T
T
T
T
T
A
G
T
A
6650
G
A
A
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
A
G
T
C
T
C
A
A
A
T
T
C
C
T
G
A
T
C
T
C
6700
A
A
G
T
G
A
T
C
C
G
C
C
T
C
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
C
A
T
T
A
C
A
G
A
C
A
T
G
A
6750
G
C
C
A
C
C
G
T
G
C
C
T
G
G
C
C
T
G
A
T
T
T
T
A
T
C
T
T
T
A
A
T
A
A
G
A
C
A
T
T
T
T
C
A
C
A
G
A
G
C
6800
A
T
T
C
T
G
C
A
A
T
T
T
T
T
T
T
T
T
T
G
A
A
T
T
G
C
T
T
T
C
T
G
T
G
T
T
A
A
A
G
A
T
A
A
C
A
T
C
G
G
6850
T
T
C
C
T
T
T
G
T
T
A
T
A
C
A
T
T
T
A
A
T
T
A
T
T
T
G
C
A
T
A
T
T
T
A
T
A
C
T
C
G
G
A
A
A
C
A
T
T
C
6900
T
T
A
A
A
A
G
T
A
T
G
A
A
A
T
T
T
G
T
T
A
T
T
T
C
A
T
C
C
T
A
T
A
G
T
C
A
G
T
T
T
C
A
T
T
C
T
T
T
T
6950
T
C
A
A
C
T
A
C
G
A
A
A
T
A
T
T
A
T
C
T
C
T
G
A
G
T
G
A
A
C
T
T
C
T
A
G
C
T
T
A
G
A
A
A
G
A
A
A
C
T
7000
C
T
T
T
C
G
G
C
C
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
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
7050 |
REPEAT
G
C
C
G
A
G
G
T
G
G
G
C
A
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
T
A
G
C
C
T
G
G
C
C
A
A
7100
T
A
T
G
G
T
G
A
A
C
T
C
T
T
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
A
A
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
7150
G
T
A
G
T
G
A
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
T
C
T
C
A
G
G
C
A
G
A
A
G
A
A
T
7200
C
G
C
T
T
G
A
A
C
C
C
A
G
G
A
G
G
T
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
C
T
G
7250
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
A
A
A
A
C
T
C
T
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
7300
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
G
A
A
A
G
A
A
A
C
T
C
T
T
T
C
A
A
C
C
T
G
A
C
A
C
T
T
T
C
T
G
G
G
7350
C
A
T
A
T
A
T
T
T
A
T
A
C
C
C
A
A
A
T
T
C
T
T
T
T
T
G
G
C
A
C
A
A
G
T
G
T
A
G
C
G
C
T
C
A
T
A
C
G
C
7400
A
C
C
T
G
G
A
T
T
G
G
A
T
G
C
T
G
G
TG CTATGTGATA TTATTTGGTG TATCCTCTGG
7450
TATATGCCAA CTAAACAGGA TAATTAGAAG ATAAGTTTGT GTCATTACAA
7500
CTTTTAGTTA AGGCATATTT ATGGGGAAAA TACTACAATG AATGTATAAA
7550
TCTTTG
A
T
C
T
G
CGATAAATT ATACTTTTGT CTACATAAGC AGTATCAATT
7600 |
var(7557):[:0.01]
GAAGGTTTCC TTTTAACTCT AGTATCTTTG TTACACATAT ATGTTTAAAA
7650
TACTCTCTTT ATGTTTCTTT AG
G
A
C
T
T
T
T
T
A
T
G
T
C
T
T
T
C
C
C
C
A
C
T
G
G
A
G
C
7700 | Exon 3
D F L C L S P L E 37
T
T
A
T
G
A
A
G
G
T
G
A
C
T
G
G
T
C
T
G
A
G
T
T
A
T
C
G
A
G
G
T
G
T
C
C
A
T
G
A
A
C
T
T
C
T
A
T
G
T
7750
L M K V T G L S Y R G V H E L L C 54
A
T
G
G
T
C
A
G
C
A
G
G
G
C
C
T
G
T
G
C
C
C
C
A
A
A
G
A
T
G
C
A
A
A
C
G
GTAT ATTTATATTT
7800
M V S R A C A P K M Q T 66
TATTATGATT TGATTATGAA TGATTCCTCA TCTCATTAAA CATGTTTTTT
7850
TAGGGATGAG GCACATGCAG AAATAGAGAT GAGTACCTCA AAAATACTGA
7900
GTTTTCTACT ATAGAAGTTA GTTCTCTAAG GAAAATACAT GTGAAAA
T
T
T
7950 |
REPEAT
T
T
T
T
T
T
T
C
T
T
T
T
T
T
G
A
G
A
C
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
G
G
C
A
G
T
T
G
C
A
8000
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
T
A
G
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
8050
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
C
A
C
G
G
T
G
C
T
A
C
C
A
A
G
C
C
A
8100 |
var(8068):[T:0.01]
A
C
T
T
A
T
T
T
T
T
A
T
A
T
T
A
T
T
A
G
T
A
G
A
G
A
T
G
G
G
A
T
T
T
C
A
C
C
T
T
A
T
T
G
G
C
C
A
G
G
8150
C
T
G
G
T
C
T
C
A
A
A
C
T
T
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
T
G
C
T
T
G
C
G
T
C
G
A
C
C
T
C
C
C
A
A
8200 |
var(8190):[G:0.24]
A
G
T
C
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
T
G
C
C
T
A
G
C
C
TA TGTGTGAAAA
8250 |
var(8228):[T:0.01]
ATTTATGTAG TTTATAAACT CATGGGAGAC AATTTCTAAA TATGGGAATT
8300
AGGGAGCAAC AGAAAGTTTT TATTTTTTTT TCTATAGCCA ATAGCAGT
A
G
8350 |
var(8349):[G:0.01]
TTCAAAAGGT CATCTTTCTC TGATTGATTA GGTAGTATTT GATGGCCTCA
8400
TAGTTAAATT ATAATCTTAA TTTTAGAATG CCCCTTTCTT TGATATACTG
8450
ACCTTTACCA TCATCACTTG CTCTAGATCA TAAAGTACAC ATAATTGTAC
8500
TTGTAGTTGC TTATTGATTG AATAAAAGGT AATTAAAAAT TTATCCTTTA
8550
CT
C
TTAAGAA AATTTGAAGT CTTTTACAAA AGCCCTCATC AAATTGTACA
8600 |
var(8553):[G:0.01]
TTTTTTCAGA CTTTTTGTGT CATGACTGTA GCTTTTCAAA ATGTAGATTT
8650
GGAGCATGAT AGAAATATCT TGTTTTCTCA CAGTAAGAGT TTCCTAAAAT
8700
TCTGTTCGGT GCTTTGCAAA TGTATTTATT TATGTGGACT GTAAGTTTCT
8750
TACCTTACTG CCTTATATTG AAATTTACTG AACACTGAAC AATGAAGTAC
8800
AATTCTCTGA AGAAGGGGAG AAGGAAGGAA TGTTAGTGTC ACTGGAAACT
8850
TCTAAAAACA ATGAACAGAT ATTTGAACAA CAGATA
T
T
T
T
C
T
T
T
C
T
T
T
T
T
8900 |
REPEAT
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
A
G
G
T
C
T
G
T
C
T
C
T
A
T
T
T
C
T
C
T
G
G
C
T
G
G
A
G
T
A
C
G
G
T
G
8950
G
T
G
T
G
A
T
C
T
C
G
G
C
T
C
A
G
T
G
C
A
G
C
C
T
C
C
G
C
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
C
A
T
C
C
T
9000 |
var(8951):[C:0.01]
|
var(8967):[A:0.01]
|
var(8974):[T:0.04]
|
var(8982):[T:0.23]
|
var(8996):[G:0.01]
C
C
C
A
C
C
G
C
A
G
C
C
T
C
C
C
G
A
G
T
G
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
C
A
C
A
C
C
A
C
C
A
T
G
C
9050
C
C
A
A
C
T
A
C
G
T
T
T
T
G
T
G
T
T
T
T
T
T
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
T
G
C
C
A
C
A
T
A
G
C
C
T
9100
A
G
A
C
T
G
T
T
C
T
T
G
A
A
C
T
T
A
T
G
A
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
9150
C
C
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
T
C
A
G
C
C
A
C
T
G
T
G
C
C
T
G
G
C
C
AAA CAACAGATAT
9200
TTTCTTTTGT TCAGATTTAG CTTGTGATCT GAGGAAAATA TTTTAAAGAC
9250
AGGATAGTCA GAAGGAGAAT CAGAA
C
TGGA GTTAGAAACT GGCATTAGTC
9300 |
var(9276):[T:0.23]
TTAGCTTTAT CATTGATTTC ATTGCTTGAA CAGCTTTCTT TTATGGGAGA
9350
AAACAGAAGT TAAAATACTA TGCAATGATT CTG
T
G
A
C
T
A
G
A
T
T
C
A
A
A
T
T
A
9400 |
NOT SCANNED
A
C
T
T
G
T
T
A
T
T
A
T
T
T
T
G
A
A
G
G
T
T
G
T
A
A
A
G
C
A
C
C
A
G
A
A
A
A
A
C
C
T
T
T
A
A
T
T
T
G
9450
T
C
A
T
C
T
G
T
C
A
T
T
C
T
A
A
T
T
A
G
T
C
A
A
T
A
T
C
C
A
T
G
G
C
A
T
A
T
T
T
C
C
C
G
T
T
A
A
T
A
9500
A
A
T
A
G
A
G
A
G
C
A
T
G
G
T
C
C
C
G
A
A
A
T
T
C
A
A
C
T
T
T
A
A
T
T
T
C
T
A
C
T
T
C
C
A
T
C
A
C
T
9550
A
C
C
T
T
C
A
G
C
T
G
C
C
A
T
C
T
T
A
A
T
A
C
A
A
T
T
C
C
A
A
A
T
A
C
A
G
T
T
C
A
A
G
A
A
A
C
C
A
T
9600
C
T
T
T
C
T
C
C
T
A
T
G
G
T
T
T
A
C
A
T
T
C
A
T
T
C
T
T
G
T
A
G
C
A
T
T
C
C
T
T
A
T
A
T
T
T
C
A
G
C
9650
A
C
T
G
C
C
C
T
A
A
A
C
A
C
T
G
G
C
T
T
A
G
T
T
T
T
T
T
T
T
T
T
T
T
C
C
A
A
C
T
T
T
T
A
T
T
G
T
A
A
9700 |
REPEAT
G
T
T
C
C
G
G
G
G
T
A
C
A
T
G
T
G
C
A
G
G
A
T
G
T
G
C
A
G
G
T
T
T
G
T
T
A
C
A
T
A
G
G
T
A
A
A
T
G
T
9750
G
T
G
C
C
A
T
G
G
T
G
G
T
T
T
G
C
T
G
T
A
T
G
G
A
T
C
A
T
C
C
T
A
T
C
A
C
C
T
A
G
G
T
A
T
T
A
A
G
C
9800
T
C
A
G
C
G
T
C
C
A
T
T
A
G
C
T
A
T
T
C
T
T
C
C
T
G
A
A
G
C
T
C
T
C
C
C
T
C
T
C
C
C
C
C
A
C
A
A
C
C
9850
T
C
G
C
A
A
C
A
G
G
C
C
C
C
A
A
T
G
T
G
T
G
T
T
G
T
T
C
C
C
T
T
C
C
G
T
G
T
G
T
C
C
A
T
G
T
G
T
C
C
9900
A
T
G
T
G
T
T
C
T
C
A
T
C
G
T
T
C
A
G
C
T
C
C
C
A
C
T
T
A
T
A
A
G
T
G
A
G
A
A
C
A
C
A
C
A
G
T
T
T
T
9950
T
G
G
T
T
T
T
C
T
G
T
T
C
T
T
G
C
A
T
T
A
G
T
T
T
G
C
T
G
A
G
G
A
T
G
A
T
G
G
C
T
T
C
C
A
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10050
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10200
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10250
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10400
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10450
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10500
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10550
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10600
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10650
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10800
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10950
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11000
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11100
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11150
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11200
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11250
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11300
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11350
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11400
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11450 |
REPEAT
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11500
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11550
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11600
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11650
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11700
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11750
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11800 |
REPEAT
T
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11850
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11900 |
REPEAT
C
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11950
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12000
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12050
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12100
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12200
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12250
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12300
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12350
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12400
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12450
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12500
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12550
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12600
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