GBGT1 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
T
G
A
G
A
C
A
T
A
G
T
C
T
C
A
C
T
C
T
G
G
C
A
C
C
C
T
T
G
C
T
C
C
A
G
C
C
T
C
A
T
A
G
C
T
T
G
C
T
A
50 |
NOT SCANNED
|
REPEAT
T
G
T
T
A
C
C
C
A
G
G
C
T
G
C
T
C
T
T
G
A
A
C
T
C
C
T
G
G
G
C
T
C
A
C
G
T
G
A
T
C
C
T
C
T
C
A
C
C
C
100
T
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
G
G
C
T
T
G
A
G
T
C
A
C
C
A
T
G
C
T
C
G
G
C
C
T
150
T
A
A
G
T
A
A
T
A
T
T
T
A
A
T
A
A
G
A
G
T
T
T
T
C
T
T
T
A
A
G
T
C
A
T
A
T
A
G
A
G
A
G
A
G
A
C
A
G
A
200
C
A
G
A
A
A
A
A
C
A
G
A
G
A
C
A
G
A
G
A
G
A
G
A
C
A
G
A
A
C
T
G
G
A
A
G
G
C
T
A
G
C
A
G
T
G
A
C
T
C
250
T
T
C
T
C
C
C
C
A
C
T
G
C
T
C
T
T
C
T
C
C
C
A
C
T
C
T
G
C
C
T
G
G
C
T
T
G
G
A
T
T
T
G
T
T
C
T
T
T
C
300
T
G
G
T
T
C
C
C
T
T
G
A
A
C
A
C
T
G
C
A
A
G
T
C
T
C
T
G
C
C
T
A
C
A
T
T
C
C
T
A
T
T
T
C
A
G
C
C
C
A
350
C
T
T
A
A
C
T
C
C
C
G
G
A
T
G
A
G
A
A
A
G
A
T
G
C
C
C
A
C
A
T
C
C
A
C
C
T
A
C
A
G
T
G
T
C
T
T
C
T
C
400
C
C
A
T
C
T
T
C
C
T
T
T
T
A
C
C
T
C
C
C
T
T
G
C
C
T
T
T
G
A
T
T
A
T
T
A
T
A
T
T
T
T
T
A
A
G
T
C
A
C
450
G
G
A
G
G
T
C
T
C
T
C
T
T
G
T
C
T
T
T
C
T
T
C
A
C
C
T
T
T
G
C
A
C
C
C
A
G
C
C
C
C
C
T
C
C
A
G
G
C
C
500
A
G
T
G
C
T
G
T
C
T
T
T
A
G
G
C
C
A
C
A
T
T
T
T
T
T
C
T
C
C
T
C
T
G
G
G
G
G
T
G
C
A
G
C
G
G
G
G
A
G
550
G
G
A
T
G
G
A
G
A
G
A
C
T
G
C
T
G
G
A
T
G
G
G
C
C
A
A
G
G
G
A
G
G
G
C
T
G
C
A
G
C
C
A
G
T
A
G
G
C
A
600
C
A
G
C
C
A
T
A
G
G
G
C
T
A
G
G
T
C
G
G
C
C
C
T
G
T
C
T
T
G
C
T
C
A
C
C
T
T
A
A
A
G
C
T
G
T
A
T
T
A
650
G
A
A
AACAATT CCCAGAGAGG CATCAGTGTC TGGAAGGCAG ACCAGGGAAC
700
TTTGCAAACA TAAACTGAGT AAGGAAAATG AATCAGCAGA TCCCAGACCA
750
GGTCCCAGGG AGCTAGTGTT TGCAGCGAAA AGGTGGAAGC ATGACCTTTT
800
GAACAGCACT CACCAGCTCC CAGGGCCGGT GCCAGGCTCC TGCAGACTGA
850
GAAAACAGGC CCTGCCTTAC AGGAACCCCA AGGTGCTCTA GAGAAACCCC
900
AAGGACACAG GTAATCATCA CACCCCTGAG GGGCCTG
G
GA GGCTGTGCCC
950 |
var(938):[A:0.01]
AGG
C
ACCAGG CAGGGCTGGG TTTCCAACTT CCAGCTGCAC TGTGACCTGG
1000 |
var(954):[T:0.22]
AGCACACCCA TAACCTCTCT GAGCCCGTCT CTGGCTGGGT CCCACC
C
CCC
1050 |
var(1047):[T:0.01]
ACCCCTTGGG TCACTCTCTC TTTTATTTTC CCTTAGGGCC CCTTCATTTC
1100
GCCTTACTGT CCCTCCCCTC TCGCACCCTT CCTAGGAGAG GTTTCTGCTA
1150
C
G
AAAACTTT CTACCCCATG CACTGGCGGA CCTCTGGTGA GCTGCAAGAG
1200 |
var(1152):[A:0.19]
GGTCTCTCCT GGGGTCCCAG AGTCCCTGGG GTGGAAAAGA GTAGCCCTTC
1250
GTGGAAG
G
GA TAATGCAACC CCGACAGGCC GTGGGAAGAA AGTGTGGCCA
1300 |
var(1258):[A:0.01]
GTCCCATTTC ACAGAAGAGA ACACGGAGGC TCCGGGTAAT TCTGGGAGCC
1350
ACTCACTTGT GTCCCCTCGC TGGGTAGGGG CGCCTGGCTC AGAGGCCCCC
1400
AGCAAAGGAG GACAGATCCT AAACCGGACA GCAAGCTGCG TCCAGCTGGT
1450
TCTCCCTTTC CGTGACTGCT TCAAAGCTCT TATAAACAAG GTAAGGTTTT
1500
CCCCACAAAT CGCTTCATTT CTCCACCCGC ACCCTACCAT GGCCCCGGAC
1550
CTGC
G
GTTCT CGGCCCCCCG AGCTGGGCCT GCTGCATCCT AGGCAGAGTT
1600 |
var(1555):[A:0.11]
CTAGGCGGCT AGCGGAAGCC AGGCCCAGGG GTCAGCTCAG GCGCTCGGTC
1650
CCCCGGGATC CTGCTCCCAG GCCGCAGGGA AGGGGCTCT
G
GGACCGCAGG
1700 |
var(1690):[C:0.40]
GGCGGGGCCT GCGGTAGGTG GGCGGGGCTG CGGCGCCCTC TTTCCCGTCT
1750
GGCTTCTCTT TTCTGTCCTC TTTCCTGTCT GTCTTC
C
T
C
T
T
T
T
C
T
G
T
C
T
G
1800 | Exon 1 |
UTR
G
C
C
C
G
C
G
G
C
C
C
C
G
C
T
G
C
C
T
G
C
C
C
T
G
C
T
C
C
A
G
G
C
T
C
C
A
C
C
T
G
C
G
C
C
G
C
C
G
A
1850
T
C
G
C
C
C
G
G
G
T
A
T
C
G
C
G
G
G
G
G
C
C
C
A
G
G
C
C
A
G
C
T
G
A
G
T
C
C
G
T
T
T
T
C
C
G
C
G
C
C
1900 |
var(1888):[A:0.01]
G
G
G
G
T
G
G
C
G
C
C
C
C
T
C
C
A
A
C
C
G
T
C
C
T
A
A
C
G
C
C
G
G
G
C
C
G
G
C
A
G
C
A
A
G
G
A
GTA
1950
AGTCTGCACC CCGTAGGGAC AGT
C
GCGCTC CCTTGGCCCC ACCCAGTCCC
2000 |
var(1974):[G:0.11]
TGCCACGCAA GGGGCCAAGG AGGAGGGCCC TGAGCCCAGG AGGTGCGCAT
2050
CTCGGACCCA GGGTCCCGGG TCCCGACCAC GGACTGGGGC CGGCGGCGCT
2100
CGGGGCTGGG CTCTGCGTTC GCGGGAGGCG GGGGCGAGAC GGGGCTTGGA
2150
GGC
C
CG
A
GTG GGGAAACTGA GGCCCCAGAG GAAGAGAGAG GGAGAGGGCT
2200 |
var(2154):[T:0.01]
|
var(2157):[G:0.14]
TGCCGGACAC TCCCGAGTGG CAGCGGCCTA ATCCCCAGGA CCCCGGCTCT
2250
CCGCTCACTG TGGCCCGGGC TGCGCCCAGC GTTTTACAGC CGTTCCCGCG
2300
TGTCCTCCCC CCGGGCGCCG CGTGCCG
C
CC CCCATCCACT GAGGCCGGGA
2350 |
var(2328):[A:0.01]
GCAGGGGATG ACTGGCCCAA GGTCAACGAG CCAGCGAGTT GAGGCGCGTT
2400
CCCATCGTTC CGTGGAGAAC CCGG
G
CCCTG CCTCCCGGAG AGGTGGACAG
2450 |
var(2425):[C:0.11]
CGGCCACCTC GCTCCCCTCG GGGAATCCTG GGCGCCCCTT CCCGCGCATC
2500
CTGCGCTGGG ACTGCATGTG TCCTCGCTGT GCCTCGGTGC TTGATTTCCA
2550
GCGGACGGTG GACTGGCCC
A
TGCACCCCTC CCGGC
G
G
C
C
T
C
G
G
C
T
C
A
C
C
T
2600 |
var(2570):[G:0.01]
|
NOT SCANNED
C
T
G
A
C
A
A
T
G
G
A
C
C
T
A
G
T
A
C
G
G
A
G
A
C
G
C
G
G
G
A
G
C
C
A
A
G
G
C
A
G
G
G
A
T
C
C
G
C
C
2650
T
T
C
G
C
G
G
C
C
T
C
T
G
C
G
A
A
G
T
C
G
G
T
C
C
C
A
G
C
C
C
C
T
C
T
C
C
C
A
A
A
G
G
A
C
A
G
C
T
G
2700
G
A
A
G
C
A
A
C
A
G
C
T
G
A
G
C
A
C
C
G
A
G
C
C
A
C
T
G
C
C
A
C
C
G
T
G
C
G
C
C
T
C
C
C
A
G
A
G
C
T
2750
G
C
C
A
G
AGCTG AGCCCGGGGT CCAGCGGGAC CTAGAGTCCA CATGACCGCA
2800
GTGGGTGACC GAGGGAGGGC AGGGCTGCAG GGCTGGGGTC ACCGTCTCCC
2850
CATAAAGAGC ATTCCT
G
G
C
C
C
G
G
T
G
C
A
G
T
G
G
C
T
C
A
A
G
C
C
T
G
T
C
A
T
C
C
C
A
G
2900 |
REPEAT
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
G
G
A
C
A
C
C
A
G
C
C
2950
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
C
T
C
T
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
3000
G
G
C
A
T
G
G
T
G
G
C
T
T
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
A
C
A
A
3050
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
C
A
A
G
A
G
A
A
G
A
G
G
T
T
G
C
A
G
T
G
A
A
T
G
G
A
G
A
T
T
G
C
G
C
3100 |
var(3058):[A:0.01]
|
var(3068):[C:0.02]
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
C
A
G
T
T
G
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
T
A
T
C
T
C
A
A
A
A
C
A
A
C
3150 |
var(3117):[G:0.15]
|
var(3150):[T:0.02]
A
A
A
A
GTGTTC CTTTGCAG
G
T
G
T
T
C
C
T
G
G
G
A
C
C
T
C
A
G
A
G
A
C
C
A
G
G
C
T
C
A
G
A
3200 | Exon 2 |
UTR
G
C
C
T
G
A
C
A
T
C
C
C
T
G
C
G
A
G
G
G
G
A
C
A
G
C
C
T
C
A
T
C
C
G
C
C
C
A
G
G
C
C
A
G
T
G
G
G
G
G
3250 |
var(3233):[T:0.02]
|
var(3243):[G:0.07]
T
C
T
C
T
A
C
A
A
G
T
G
C
C
C
A
G
G
C
T
C
A
G
G
T
G
C
A
G
C
C
C
C
C
A
G
C
A
A
T
G
C
A
T
C
G
C
C
G
G
3300
M H R R 4
A
G
A
C
T
G
G
C
C
C
T
G
G
G
T
C
T
G
G
G
G
T
T
C
T
G
C
C
T
G
T
T
G
G
C
G
G
G
C
A
C
A
A
G
C
C
T
C
A
G
3350 |
var(3346):[T:0.11]
|
var(3349):[G:0.02]
R L A L G L G F C L L A G T S L S 21
T
G
T
C
C
T
G
T
G
G TGAGTCTGCC CCA
C
GGAGCT CCCCCTGTCT CTATCCCCAC
3400 |
var(3374):[T:0.01]
V L W 24
CCAGGACTCC CCCTGTCTCT ATCCCCACCC AGGACTCCCC CTGTCTCTAT
3450
CCCCACCCAG GACTCCCCCT GTCTCTATCC CCACC
C
A
G
G
A
C
T
C
C
C
C
C
T
G
T
3500 |
NOT SCANNED
C
T
C
T
A
T
C
C
C
C
A
C
C
C
A
G
G
A
C
T
C
C
C
C
C
T
G
T
C
T
C
T
A
T
C
C
C
C
A
C
C
C
A
G
G
A
C
T
T
C
3550
C
C
C
T
G
T
C
T
C
T
A
T
C
C
C
C
A
C
C
C
A
G
G
A
C
T
C
T
C
C
C
T
G
T
C
T
C
T
A
T
C
C
C
C
A
C
C
C
A
G
3600
G
A
C
T
C
C
C
C
C
T
G
T
C
T
C
T
G
C
A
G
A
T
C
A
A
C
C
C
C
A
A
A
A
C
C
T
T
G
A
T
C
T
C
C
T
C
A
T
A
G
3650
G
A
T
T
C
C
A
G
A
T
C
C
C
A
C
C
A
A
C
C
C
C
T
C
C
T
G
A
C
T
C
A
C
C
T
G
T
T
C
T
C
C
A
A
C
C
C
C
A
G
3700
C
C
C
C
A
A
C
A
A
G
A
C
C
C
A
A
C
T
A
G
T
G
T
C
T
C
C
G
G
C
T
T
C
T
G
A
A
T
T
C
T
G
C
C
T
T
G
T
A
C
3750
T
G
G
C
C
T
C
C
T
G
G
C
C
T
T
T
G
A
C
T
T
G
C
T
C
T
T
T
T
C
T
C
T
G
C
C
T
G
G
A
T
C
A
T
C
C
T
T
C
A
3800 |
REPEAT
A
C
C
A
A
T
G
T
T
G
A
T
G
G
G
G
A
A
T
C
C
C
C
G
T
T
C
A
C
G
C
T
C
C
C
A
A
A
T
T
C
A
C
C
C
T
C
T
G
T
3850
T
T
C
T
G
T
C
C
T
T
C
C
A
T
G
A
A
G
C
T
C
C
T
G
G
G
G
C
T
G
CCCCTCACCC TGCTGTTTGT
3900
GTGGGGGGCC TGGCATCAAG AATATA
C
ACT CCCTAGGAAT GAATGACTCT
3950 |
var(3927):[T:0.01]
ATGGGTGAAT GAATGACTGC ATGGCAGGCC CTGTGACACA TGCCAGGAAT
4000
ACCAGCAGGC TTTGTCCTCC AAGGTCAGCC AGACCTACAG AATGACAGGG
4050
GACCTGGCCT CCTAATGCAC TGTGGGAGAC CTGCACTCCC AATGACGTGC
4100
ATGAGGTGCG TTTTCAGCCT CTGGTGCAGA GTGGA
T
CAAC AGATTTTTTT
4150 |
var(4136):[A:0.02]
T
C
TTTTTTT
T
ATTCACAG
G
G
T
G
T
A
T
C
T
T
G
A
G
A
A
C
T
G
G
C
T
G
C
C
A
G
T
C
T
C
C
T
4200 |
var(4152):[T:0.04]
|
var(4160):[:0.01]
| Exon 3
V Y L E N W L P V S 34
A
T
G
T
C
C
C
C
T
A
T
T
A
T
C
T
C
C
C
C
T
G
C
C
C
A
G
A
G
A
T
C
T
T
GTAAGT ATGGGTGTGG
4250
Y V P Y Y L P C P E I F 46
CTAGGAGAAC TGGGGGCCCT GAGGGCTGCT CACAGTTGGG GAGACAGGAG
4300
AGTATTTAAG TTCACTTCAT CTGCCGGTTC CTGATTCCTA AGTTCATGTT
4350
TCTG
A
T
A
A
A
T
G
C
A
A
T
A
G
T
A
T
T
T
A
T
G
T
A
A
T
T
T
A
A
G
G
G
C
T
G
T
G
A
C
A
A
G
C
G
T
G
4400 |
NOT SCANNED
A
A
G
T
G
A
A
A
T
T
C
C
C
A
T
T
T
C
G
G
T
C
T
T
C
C
A
G
C
A
T
C
C
T
T
G
C
A
G
C
C
C
C
C
T
G
C
A
T
G
4450
G
T
C
T
G
A
C
C
G
T
C
C
A
C
A
T
G
T
T
G
C
A
C
A
G
C
T
G
T
G
A
G
C
C
T
T
G
C
T
T
G
C
T
G
T
G
T
C
T
G
4500
G
C
C
A
C
T
G
A
G
A
A
C
A
C
A
G
A
G
T
G
C
A
A
A
G
A
T
G
C
C
C
A
T
A
A
A
C
A
G
C
C
T
G
C
T
G
T
T
G
C
4550
T
C
C
C
G
G
T
G
A
C
C
A
G
C
A
G
G
G
G
T
T
G
T
G
T
T
C
A
G
T
G
C
T
T
T
T
A
G
G
A
C
T
T
G
A
C
C
T
T
G
4600
T
T
G
C
T
C
A
A
T
T
T
T
G
T
G
T
T
C
C
A
T
G
G
A
T
T
C
A
A
G
G
A
A
C
A
A
A
T
G
A
A
C
A
T
G
T
G
A
C
C
4650
A
A
A
G
T
C
C
T
C
C
T
C
A
A
C
T
A
A
G
G
A
G
T
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
C
T
T
G
A
G
T
C
A
G
A
G
4700 |
REPEAT
T
C
T
C
A
C
T
C
T
G
T
C
G
C
C
C
T
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
T
C
A
C
A
4750
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
C
A
G
T
T
C
A
A
G
A
G
A
T
T
G
T
C
C
T
G
T
C
T
C
A
G
C
C
T
C
C
C
A
A
4800 |
var(4781):[C:0.11]
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
C
C
G
C
C
A
C
C
A
T
A
C
C
T
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
4850
T
T
T
A
T
T
T
G
A
G
A
T
G
G
C
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
4900
T
G
A
C
C
T
C
A
A
G
T
G
T
T
C
C
A
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
A
C
A
4950
G
G
C
A
T
G
A
G
C
T
A
C
T
G
C
ATCGG TC
C
GGTCACC ATCATCTTAT TCCACCCAGG
5000 |
var(4973):[T:0.02]
GACTGACACA TAATTTTTGA GCCTCTCTCT CTTTCCCACC ACCAATTGCT
5050
CTCGGGATTT AGGTTGCTCC CAATTTCCCA GGGCTCTCAG TTAGTTTGTG
5100
ATGAGCAGCA TAACCCTTTC TCCATTTCAA AGATCATTTT GTTCAGATAT
5150
GTTCCCTTAG TGGCCGGAGG ATGTGGATAG GTTCTGATCC AACTCATTGG
5200
GTTATTTCCA GAAGGACCAC AGCACATCAG TCACTCATTC ATGTGCCCTG
5250
CCCAAGCAGT ACCCAGCAAA GCCACCGTGT AGTACACCTG GGCTACTGCT
5300
GGGAATACCA GAGGTTATGA AAACAAAAAT GAACCTACCT TGCTGATTGG
5350
GAGAGGGAAA ATGCTATCCT CTTTGGTATA AATTTTAT
T
T
A
T
T
A
T
T
A
T
T
A
5400 |
REPEAT
|
var(5391):[T:0.03]
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
A
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
G
C
T
T
T
G
C
C
A
C
C
C
A
G
G
5450
C
T
G
G
A
G
T
A
C
C
G
T
G
G
C
G
T
G
A
T
C
T
C
A
G
C
T
C
A
T
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
5500
T
T
C
A
A
G
C
A
A
T
T
G
T
C
A
T
G
C
C
T
C
A
G
C
C
A
C
C
T
G
A
A
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
5550
C
A
C
A
C
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
A
A
C
A
G
C
A
T
T
T
C
A
T
C
A
T
G
T
T
G
G
5600
C
C
A
G
G
T
T
G
G
T
C
T
T
T
G
C
C
C
C
C
T
T
C
G
G
C
C
A
G
G
C
T
T
C
G
C
C
C
C
C
T
C
A
T
C
G
G
C
C
T
5650 |
NOT SCANNED
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
A
A
G
G
C
G
T
G
A
A
C
C
A
C
C
A
C
C
C
C
T
G
G
C
C
T
T
A
A
T
T
T
5700
T
T
T
T
T
T
T
T
T
T
T
T
A
T
T
A
T
T
A
C
T
A
G
T
G
A
G
A
C
T
C
T
C
A
T
T
T
C
C
C
T
A
C
G
T
C
T
T
C
C
5750
C
G
T
T
A
A
T
T
G
A
A
A
T
T
T
T
T
C
T
T
G
T
G
T
G
A
A
G
T
G
C
T
T
C
T
T
C
C
C
C
A
C
C
T
T
C
T
C
T
G
5800
T
T
T
G
G
T
C
C
G
T
T
T
G
T
G
G
G
T
T
C
T
C
T
A
T
C
A
T
C
A
C
T
C
T
T
G
G
C
T
A
A
G
T
A
T
A
C
C
T
A
5850
C
A
A
C
T
T
T
T
T
T
T
T
T
T
C
T
T
T
C
C
A
G
T
T
T
G
T
C
T
A
T
C
T
T
G
T
G
T
G
T
G
T
G
C
G
T
G
G
C
G
5900
G
A
G
G
G
A
G
A
T
A
A
G
G
T
C
T
G
G
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
5950 |
REPEAT
A
T
C
A
C
A
G
C
T
C
A
C
T
A
C
A
G
C
C
T
T
G
A
C
C
T
C
C
T
G
G
G
C
T
C
A
A
G
T
G
A
T
C
C
T
C
A
C
A
C
6000
T
T
T
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
A
G
G
A
C
C
A
C
A
G
A
T
A
C
T
C
A
C
C
A
C
C
A
C
A
C
C
T
C
C
T
6050
A
G
C
T
A
A
T
T
T
T
T
T
T
T
T
A
T
T
T
G
T
T
T
G
T
A
G
A
G
A
C
A
G
G
G
T
C
T
C
A
C
T
A
T
G
T
T
G
C
C
6100
C
A
G
G
C
T
G
G
T
C
T
G
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
G
G
G
T
C
G
T
C
C
C
A
A
C
T
C
G
C
C
C
C
T
6150
G
C
C
G
G
G
A
T
T
G
C
G
G
G
C
A
T
G
A
G
C
C
A
C
C
A
C
A
C
C
G
G
C
C
T
G
C
T
T
T
T
G
T
A
T
T
C
T
T
G
6200
T
A
T
G
T
A
A
C
T
C
T
T
C
A
CTGCAG CTGGAGTGTG TCTGGGCTTG TGGAGAGAAA
6250
AGAGGAGCTC GCTGCCAGGG AGGCACAGAA TGCTGGGCTG TTTGGTACCC
6300
CTTCTAACTC CTGACC
G
CTT CTTGGAATCC CAGGGCTTTC TGAGCAGGGC
6350 |
var(6317):[C:0.02]
CCTGAAACAT GCTTTCTTGT AGGAAACTAG GGCAGAGGGC CAATTTGACG
6400
AACTG
A
CTTT AAAAAATTGT TGATTCAAGA GTAGCAACTT
G
G
C
T
G
G
G
T
G
T
6450 |
var(6406):[G:0.27]
|
REPEAT
A
G
C
G
G
C
T
T
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
C
G
A
G
G
C
T
G
G
T
G
G
A
6500
T
C
A
C
T
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
C
C
A
A
C
A
T
G
A
T
G
A
A
A
C
C
C
6550
C
A
T
C
T
C
T
A
A
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
G
G
C
G
G
G
G
T
G
T
G
G
T
G
G
C
A
C
A
C
A
C
C
T
G
6600
T
A
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
C
A
G
G
A
G
A
A
T
C
A
C
T
T
G
A
T
C
C
C
A
G
G
6650
A
G
G
C
T
A
A
G
G
T
T
A
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
T
G
G
G
A
6700 |
var(6656):[G:0.05]
T
G
A
C
A
A
G
G
T
T
A
C
T
G
A
G
A
C
T
C
C
A
T
C
T
A
A
A
A
A
A
A
G
A
A
A
A
A
A
A
A
A
A
GTAGCT
A
6750 |
var(6750):[G:0.01]
C
T
A
A
T
C
A
C
A
A
A
A
G
G
A
C
A
A
A
A
A
C
T
T
T
A
T
T
A
T
T
C
C
A
C
T
T
A
T
A
G
G
A
A
G
T
A
C
T
T
6800 |
REPEAT
|
var(6795):[A:0.04]
T
C
C
A
T
A
C
T
C
A
A
G
T
T
C
A
T
A
G
A
G
G
C
A
G
A
A
G
T
A
G
A
A
T
T
A
T
G
G
T
T
C
C
C
A
G
G
G
G
C
6850
T
G
G
G
G
G
C
G
G
G
G
C
A
A
C
G
G
C
A
A
G
C
T
G
T
T
G
T
T
T
A
A
T
G
A
G
G
A
C
C
G
A
G
C
T
T
C
C
T
T
6900 |
var(6865):[T:0.05]
T
T
G
G
G
A
T
G
A
T
G
A
A
A
A
A
G
T
T
C
T
G
G
A
C
A
C
A
A
A
T
G
T
T
G
G
A
T
G
G
T
T
G
C
A
T
G
A
C
A
6950
A
T
G
T
G
A
A
T
G
T
A
C
C
T
A
A
T
G
C
C
A
C
T
G
A
A
T
T
G
T
A
C
A
C
T
T
A
A
A
G
A
T
G
G
C
T
A
A
A
G
7000
T
A
G
T
A
A
A
T
C
T
T
G
T
G
T
T
T
T
G
T
A
T
A
C
T
T
T
A
C
C
A
C
A
A
A
T
A
A
A
A
G
A
G
C
A
T
A
G
C
C
7050 |
NOT SCANNED
T
A
G
A
G
G
T
G
G
A
A
G
A
G
T
T
C
A
A
G
G
A
G
G
C
T
T
C
A
G
C
C
A
C
C
C
C
A
T
C
A
T
A
C
A
T
G
A
T
G
7100
T
A
T
T
G
A
A
A
C
T
C
A
C
A
G
G
G
G
A
C
C
A
G
G
C
A
A
G
G
C
A
G
C
T
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
7150 |
REPEAT
G
C
A
C
T
T
T
G
G
G
A
A
G
C
C
A
A
G
A
C
A
G
G
C
A
G
A
T
C
A
C
T
T
G
A
G
C
T
C
A
G
G
A
G
T
T
C
A
A
G
7200
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
A
G
T
C
T
G
T
A
C
A
A
A
A
A
A
T
A
T
T
A
A
T
A
7250
C
A
A
A
A
A
C
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
T
G
G
G
C
A
C
C
T
G
T
G
G
T
C
T
C
A
G
C
T
C
C
T
C
A
G
G
7300
G
T
G
C
T
G
G
T
G
T
G
G
G
A
G
G
A
C
C
G
C
T
T
G
A
G
C
T
C
A
G
G
C
A
G
T
C
A
A
G
A
C
T
G
C
A
G
T
T
A
7350
G
C
C
G
A
G
A
T
T
G
T
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
A
C
A
G
A
T
A
G
A
C
C
C
C
A
7400
C
C
T
C
A
A
A
A
A
A
G
A
A
A
A
G
A
A
A
G
A
A
A
G
A
A
A
A
G
A
A
A
C
T
T
A
C
A
A
G
G
A
C
C
T
G
G
C
A
G
7450
A
C
T
A
C
T
G
T
G
T
C
A
T
C
A
G
T
G
G
G
T
G
G
G
A
T
C
C
T
T
A
T
G
A
G
C
T
T
C
T
G
C
C
T
G
G
G
G
A
C
7500
A
G
T
C
G
G
C
C
T
C
G
G
G
C
C
T
T
T
T
G
T
T
G
C
T
G
C
T
G
C
T
G
G
C
T
G
G
G
T
G
G
C
C
T
T
T
C
C
C
T
7550 |
REPEAT
T
T
T
T
T
T
T
G
A
G
A
T
G
C
A
G
T
C
T
T
G
C
T
C
T
G
T
C
G
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
7600
G
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
C
C
C
T
C
A
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
7650
C
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
T
A
C
A
G
G
T
G
C
C
C
A
C
C
A
C
C
A
C
G
C
C
C
A
7700
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
A
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
C
C
C
A
G
G
7750
A
T
G
G
T
C
T
C
G
A
T
C
T
C
T
C
G
A
C
C
T
T
G
T
G
A
T
C
T
G
C
C
C
G
C
T
T
T
G
G
C
C
T
C
C
C
A
A
A
G
7800
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
A
C
G
C
C
C
G
G
C
C
G
G
T
C
T
T
T
C
C
C
T
T
C
T
7850
C
T
G
C
A
C
C
T
C
G
C
T
T
C
C
A
C
C
T
G
C
T
G
G
A
A
A
C
A
C
T
C
T
A
A
G
T
G
G
A
T
G
G
T
T
T
T
A
T
T
7900 |
REPEAT
G
T
C
C
C
C
A
T
T
T
T
G
T
G
G
A
T
G
A
G
G
A
A
A
C
T
A
A
A
G
T
T
C
A
C
A
G
G
G
T
C
A
A
C
T
G
T
C
T
G
7950
G
C
T
C
C
A
G
G
T
C
C
C
T
G
G
G
C
C
A
G
T
T
A
G
T
G
G
C
A
G
A
G
C
C
A
G
A
G
G
T
G
A
G
C
C
C
A
G
G
G
8000
G
T
C
T
G
A
C
C
C
T
A
C
A
G
C
C
C
TGG CACCTCCTTC ATGGACCCCC TTCTTTCTTC
8050 |
var(8008):[A:0.05]
|
var(8012):[T:0.03]
TCCAACCAGT TTGACCTTGA AACTGACCAT GGAGGCTGCC TGCCAAGACT
8100
TGCCCAGGAT CCCTCACC
T
T
A
C
T
G
A
G
C
A
C
T
T
G
C
T
C
C
A
T
G
C
T
G
G
A
C
A
T
G
G
T
8150 |
REPEAT
C
A
A
G
A
G
C
C
C
C
T
C
A
C
A
C
A
C
C
T
T
G
T
G
T
A
A
C
T
C
T
C
A
C
C
A
C
A
T
C
G
C
T
A
A
G
G
C
T
A
8200
A
G
G
A
T
G
G
T
T
T
T
G
C
C
C
A
T
T
T
T
G
C
A
G
A
T
G
C
A
G
A
G
A
AATGG
C
A
G
T
C
A
G
T
G
T
T
C
8250 |
REPEAT
C
A
C
T
A
G
A
G
A
A
A
C
A
G
A
A
C
C
A
G
T
A
A
G
A
G
G
T
A
G
G
A
A
G
G
T
A
G
A
C
A
G
A
T
G
G
C
C
A
A
8300
C
A
T
A
C
C
T
A
G
G
A
A
A
A
T
T
G
A
C
T
T
A
T
G
T
G
A
T
G
G
T
G
A
G
G
C
T
G
G
C
T
A
A
G
C
A
G
C
T
G
8350 |
var(8308):[G:0.02]
A
A
A
C
T
C
A
G
A
T
A
G
G
A
G
C
A
G
A
C
A
C
C
A
C
A
G
C
C
C
A
C
A
G
G
T
G
A
A
G
T
T
C
T
T
T
T
T
T
T
8400 |
var(8367):[G:0.01]
|
var(8390):[C:0.01]
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
G
G
T
C
T
C
A
C
T
T
T
G
T
G
G
G
T
G
G
C
C
C
A
G
G
C
T
G
G
A
8450 |
var(8417):[T:0.15]
G
T
G
C
A
G
T
A
G
T
G
T
G
A
T
T
A
C
A
G
C
T
C
A
C
T
A
C
A
G
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
C
T
C
A
A
8500 |
var(8486):[G:0.21]
G
C
C
A
T
C
C
T
C
C
T
G
C
T
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
C
A
G
G
A
C
C
A
C
A
G
G
T
G
C
A
C
A
C
8550 |
var(8501):[A:0.26]
C
A
C
C
A
T
A
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
T
G
T
T
T
T
T
G
T
A
G
A
G
A
T
G
A
G
G
T
C
T
T
G
C
C
A
8600 |
var(8588):[C:0.23]
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
A
C
T
G
G
G
C
T
C
A
A
G
C
G
C
T
T
T
G
C
C
C
G
C
G
T
8650
T
G
G
G
C
C
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
T
G
G
G
C
T
G
G
C
C
A
8700 |
var(8659):[T:0.01]
|
REPEAT
C
C
A
G
T
T
C
T
G
T
T
C
T
T
A
A
G
G
C
C
T
T
T
C
A
A
C
C
A
A
T
T
G
G
A
T
C
G
G
T
C
C
C
A
C
C
C
A
G
G
8750
T
T
G
T
C
T
A
G
G
A
T
A
C
T
C
T
C
T
T
T
T
A
T
G
T
A
A
A
A
T
C
A
A
C
T
G
A
T
A
T
A
G
A
A
T
G
T
T
A
A
8800
T
C
A
C
A
T
C
T
A
C
A
A
A
A
T
A
C
T
T
T
C
A
C
A
G
A
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
T
A
G
T
A
A
G
A
C
8850 |
REPEAT
C
C
C
A
T
C
T
C
T
A
C
A
A
A
A
T
T
T
T
A
A
A
A
A
A
T
C
A
G
C
C
G
G
G
G
G
T
G
G
T
A
A
T
G
A
G
T
G
C
C
8900
T
G
G
C
A
G
G
T
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
A
A
G
G
C
A
G
G
A
G
G
A
T
T
G
C
C
T
ACAACT
8950
GACCATTACA GTGGGCTCAG GTTAATTAGC TCTTAGCTCA CCCGAGGTCC
9000
CAGTCACCAG GCCTTTGCAG C
T
T
T
T
C
T
T
C
C
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
A
9050 |
REPEAT
T
C
T
T
G
C
T
C
T
G
T
C
A
C
A
C
A
G
G
C
T
G
T
A
G
T
G
C
A
A
T
G
G
T
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
9100
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
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
9150 |
var(9116):[A:0.03]
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
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
G
T
A
T
T
9200 |
var(9170):[T:0.20]
|
var(9172):[T:0.13]
|
var(9180):[T:0.39]
T
T
T
A
G
T
A
G
A
G
A
C
G
A
G
G
T
T
T
C
A
C
C
A
T
C
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
9250
T
G
G
C
C
T
T
G
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
C
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
9300 |
var(9271):[G:0.06]
|
var(9274):[A:0.18]
|
var(9299):[A:0.19]
C
G
T
G
A
G
C
C
A
C
C
G
C
G
C
C
T
G
G
C
C
CTTTGCAGG TTTTCA
A
ATC TTCTTTCCGA
9350 |
var(9337):[C:0.39]
CAACGAGAGC GACA
T
G
G
T
T
G
G
A
A
A
A
G
C
A
T
C
A
G
C
C
T
T
G
G
G
A
G
C
A
A
G
C
G
G
C
A
9400 |
REPEAT
C
T
G
G
G
T
T
C
G
A
A
T
C
A
C
T
G
C
C
C
T
G
C
C
A
C
T
T
A
C
T
C
T
C
T
C
A
G
T
G
A
C
C
C
T
G
G
A
C
A
9450
G
A
T
C
A
C
T
T
C
T
G
T
A
G
G
G
G
T
C
C
C
C
A
G
C
T
C
C
T
C
T
G
T
A
G
A
G
T
C
G
G
G
TGGGGCTG
9500
TGGGGGAAGG TCAGAG
G
GAG CCTGCATGGA CCCTGGG
T
GC CCACCCGCAG
9550 |
var(9517):[A:0.01]
|
var(9538):[A:0.07]
GGGCCTCTGA CTCCTCCTTC TTCCTGTGCT GAGTG
T
C
TCT GTCCCCAGAC
9600 |
var(9586):[:0.02]
CCATGATGAT GGCTCTTTCT TGCCTCTGCC ACCAG
C
A
A
C
A
T
G
A
A
G
C
T
G
C
A
9650 | Exon 4
N M K L H 51
C
T
A
C
A
A
G
A
G
G
G
A
G
A
A
G
C
C
A
C
T
C
C
A
G
C
C
C
G
T
G
G
T
A
T
G
GTAA GGAGACTGGC
9700
Y K R E K P L Q P V V W 63
ATTTCCTCTT TTGTGGC
C
GT GAGGGTGGTG GCTCTCCTCC A
C
CACTGGTC
9750 |
var(9718):[T:0.03]
|
var(9742):[T:0.38]
CTTCTTGGTT GCAG
G
T
C
A
C
A
G
T
A
C
C
C
T
C
A
G
C
C
C
A
A
G
C
T
G
C
T
G
G
A
G
C
A
C
A
G
9800 | Exon 5
S Q Y P Q P K L L E H R 75
GTAGGTGTCA TGGAGAGGCC TGATGGGGGC GGGGGAAAAG GACAAAAGAG
9850
CTCTGATTTA TAAGGTGGGG TAGTGGAGGT GCTAACATCA GGGTGGCCTT
9900
GGGGCCCAGA GAGTTAGGGA CTGTGGAAAG ACACAGGGCT GGGAGTCAGG
9950
GACCTGG
G
C
T
G
T
G
T
G
A
C
C
C
T
G
G
G
C
A
G
C
G
T
A
C
C
C
A
A
C
T
G
C
T
C
T
G
A
G
C
T
T
T
T
10000 |
REPEAT
T
C
T
G
T
G
C
A
G
G
T
G
G
A
T
A
G
T
A
G
T
G
C
C
T
A
G
C
T
C
A
C
T
G
G
A
G
T
T
T
G
G
A
G
G
A
G
C
A
G
10050
A
T
G
A
G
A
G
G
T
A
T
T
G
T
A
A
C
A
T
C
T
G
C
A
C
C
G
T
G
C
T
T
GCACTCAG GAGGTGCTCA
10100
GGCCATTGTT CATAACAACG TGGTCTTGCC CTTTT
T
A
A
T
G
A
C
C
C
T
C
A
T
T
T
10150 |
REPEAT
|
var(10142):[A:0.01]
A
T
T
A
G
G
G
G
C
T
T
G
G
C
A
C
A
T
A
T
G
A
A
T
A
A
T
G
C
C
A
G
G
C
T
T
C
T
C
C
T
T
G
G
T
G
T
G
C
G
10200 |
var(10168):[C:0.06]
T
T
A
A
C
T
C
C
T
G
G
T
A
C
T
C
C
C
A
A
C
C
C
T
G
C
T
G
G
G
A
G
G
T
G
G
C
T
A
T
C
A
T
T
A
T
C
C
C
C
10250 |
var(10205):[T:0.09]
A
C
T
T
T
C
C
A
T
A
T
G
A
G
G
A
A
A
G
G
G
A
G
G
C
C
C
A
G
A
G
A
T
G
G
G
G
A
C
G
A
A
G
C
T
G
C
C
C
C
10300
G
G
G
T
C
A
C
A
C
A
G
T
G
T
G
A
G
A
G
C
C
A
G
G
G
C
T
G
G
G
A
T
G
A
G
A
C
T
T
A
G
G
C
TTTCACA
10350
GGGGAGGGTC TCAGTGCCCA CGGCCCCCCT GCTGCCAG
G
C
C
C
A
C
A
C
A
G
C
T
10400 | Exon 6 |
var(10400):[C:0.03]
P T Q L 79
G
C
T
G
A
C
A
C
T
C
A
C
A
C
C
C
T
G
G
T
T
G
G
C
G
C
C
C
A
T
C
G
T
C
T
C
C
G
A
G
G
G
A
A
C
C
T
T
C
A
10450
L T L T P W L A P I V S E G T F 95
A
C
C
C
A
G
A
G
C
T
T
C
T
G
C
A
G
C
A
C
A
T
C
T
A
C
C
A
G
C
C
A
C
T
G
A
A
C
C
T
G
A
C
C
A
T
T
G
G
G
10500
N P E L L Q H I Y Q P L N L T I G 112
G
T
C
A
C
G
G
T
G
T
T
T
G
C
C
G
T
G
G
G
G
A
A
GTGAGTA GTGGGCTGGG GAA
G
GGGAGG
10550 |
var(10515):[T:0.02]
|
var(10544):[T:0.01]
V T V F A V G K 120
GAGGTCTCCC TGAGCCACAG GAGTTTATAG TTGGGAAGAG A
C
CAGACCAG
10600 |
var(10592):[T:0.01]
ACGTGCACAC AGGACCCTGC TGGGCACCC
A
GGAGGCTCGG AACCAGGTGC
10650 |
var(10630):[G:0.11]
CAAGCAGATA GAAAGTACAG TGTAGGGTGT GATAGTGGGA TGGGAGCTTC
10700
CTGGAGTAGG GGATCTGGCT CTAGCATAGA CAGGATGCAG AGTCCAGGTG
10750
AGGGGACAGC AGGAGCCTTT GTCAGGAGGC
C
CCCTTGCCC CTCCCTGTTT
10800 |
var(10781):[T:0.01]
CATCTAGACC CCTCCTCTGC CCTTGTCTCT CCCATGACCC CACCTGGCCT
10850
TCCTTTAGGA GCTGCCGCTT GGCAGCCTTC CTCTGGGCCT CTGGGACTCC
10900
TTCCTGGAAC TTCCTGGGGC CCTAAAGCAT GACCAGATGA TGAATGGTCC
10950
ACCTAGGGTC AGGTGACCCC CTTGTCCAAT GAGTTTTGGC CTGGGGGCAG
11000
GGCTGTGTCA ACCACACCCC CCTCCATGCC CCCAGCATCT AGCTCAACTT
11050
GCCTTCCCTT GATTCGTCCA CTTACCTGCT TCTTCAC
T
A
C
T
T
T
C
T
T
C
T
C
T
11100 |
REPEAT
G
T
G
A
T
C
C
T
C
A
A
T
G
T
T
C
C
T
G
C
C
T
G
T
A
A
A
A
T
G
G
G
C
A
T
G
C
T
T
A
T
G
C
A
G
A
T
C
A
A
11150
A
G
A
T
C
A
T
A
A
G
A
A
T
T
C
T
T
A
G
A
A
C
G
T
C
G
C
T
G
G
G
C
A
C
T
T
A
G
A
A
A
T
T
G
C
T
C
A
G
T
11200
A
A
A
A
G
T
T
CAC CTGGCCTAGG AGCATAAGAA TCTCTACCAG GAAC
A
T
G
C
T
T
11250 |
REPEAT
A
C
A
A
C
A
G
C
C
G
T
A
A
G
A
G
G
C
T
G
G
T
A
C
T
A
G
C
A
T
T
T
T
G
G
G
A
A
T
T
G
G
A
C
A
A
A
T
G
A
11300
G
G
A
C
C
C
A
G
A
G
G
G
C
C
A
G
A
G
C
A
G
A
G
T
G
A
C
A
T
C
T
T
G
A
G
A
T
G
G
G
G
A
G
C
T
G
G
T
A
A
11350
G
T
G
G
A
C
C
C
C
A
G
C
C
T
G
G
C
T
G
A
C
C
C
C
A
G
CACA CAGTGGGGAC CCTGGCAGGC
11400
TGCTGGTGTA GCAGTGGGTG ACCGGGTGAT CATCACTAG
G
T
A
C
A
C
T
C
A
T
T
11450 | Exon 7 |
var(11443):[A:0.10]
Y T H 123
T
C
A
T
C
C
A
G
T
C
C
T
T
C
C
T
G
G
A
G
T
C
A
G
C
C
G
A
G
G
A
G
T
T
C
T
T
C
A
T
G
C
G
T
G
G
G
T
A
C
11500
F I Q S F L E S A E E F F M R G Y 140
C
G
G
G
T
G
C
A
C
T
A
C
T
A
C
A
T
C
T
T
C
A
C
T
G
A
C
A
A
C
C
C
T
G
C
A
G
C
C
G
T
T
C
C
C
G
G
G
G
T
11550
R V H Y Y I F T D N P A A V P G V 157
C
C
C
G
C
T
G
G
G
T
C
C
C
C
A
C
C
G
G
C
T
T
C
T
C
A
G
C
T
C
C
A
T
C
C
C
C
A
T
C
C
A
G
G
G
T
C
A
C
T
11600 |
var(11567):[T:0.01]
P L G P H R L L S S I P I Q G H 173
C
C
C
A
C
T
G
G
G
A
G
G
A
G
A
C
A
T
C
C
A
T
G
C
G
C
C
G
G
A
T
G
G
A
G
A
C
C
A
T
C
A
G
C
C
A
G
C
A
C
11650 |
var(11614):[A:0.14]
S H W E E T S M R R M E T I S Q H 190
A
T
T
G
C
T
A
A
G
A
G
G
G
C
T
C
A
C
C
G
G
G
A
G
G
T
G
G
A
C
T
A
C
C
T
C
T
T
C
T
G
C
C
T
T
G
A
T
G
T
11700 |
var(11678):[A:0.01]
I A K R A H R E V D Y L F C L D V 207
G
G
A
C
A
T
G
G
T
G
T
T
T
C
G
G
A
A
C
C
C
G
T
G
G
G
G
C
C
C
T
G
A
G
A
C
C
T
T
G
G
G
A
G
A
C
C
T
G
G
11750
D M V F R N P W G P E T L G D L 223
T
G
G
C
T
G
C
C
A
T
T
C
A
C
C
C
A
A
G
C
T
A
C
T
A
C
G
C
C
G
T
T
C
C
C
C
G
C
C
A
G
C
A
G
T
T
C
C
C
C
11800 |
var(11776):[T:0.05]
|
var(11793):[C:0.02]
V A A I H P S Y Y A V P R Q Q F P 240
T
A
T
G
A
G
C
G
C
A
G
G
C
G
T
G
T
T
T
C
C
A
C
T
G
C
C
T
T
T
G
T
G
G
C
A
G
A
C
A
G
C
G
A
A
G
G
G
G
A
11850 |
var(11823):[T:0.01]
Y E R R R V S T A F V A D S E G D 257
C
T
T
C
T
A
T
T
A
T
G
G
T
G
G
G
G
C
A
G
T
C
T
T
C
G
G
G
G
G
G
C
A
G
G
T
G
G
C
C
A
G
G
G
T
A
T
A
T
G
11900
F Y Y G G A V F G G Q V A R V Y 273
A
G
T
T
T
A
C
T
A
G
G
G
G
C
T
G
C
C
A
C
A
T
G
G
C
C
A
T
C
C
T
G
G
C
G
G
A
C
A
A
G
G
C
C
A
A
T
G
G
C
11950 |
var(11950):[T:0.08]
E F T R G C H M A I L A D K A N G 290
A
T
C
A
T
G
G
C
T
G
C
C
T
G
G
C
G
G
G
A
G
G
A
A
A
G
C
C
A
C
C
T
G
A
A
C
C
G
T
C
A
C
T
T
C
A
T
C
T
C
12000 |
var(11951):[T:0.03]
I M A A W R E E S H L N R H F I S 307
A
A
A
C
A
A
G
C
C
G
T
C
C
A
A
G
G
T
G
C
T
G
T
C
C
C
C
C
G
A
G
T
A
C
C
T
C
T
G
G
G
A
C
G
A
C
A
G
G
A
12050
N K P S K V L S P E Y L W D D R 323
A
G
C
C
C
C
A
G
C
C
A
C
C
C
A
G
C
C
T
G
A
A
G
C
T
G
A
T
C
C
G
C
T
T
T
T
C
T
A
C
A
C
T
G
G
A
C
A
A
G
12100
K P Q P P S L K L I R F S T L D K 340
G
A
T
A
T
C
A
G
C
T
G
C
C
T
G
A
G
G
A
G
C
T
G
A
C
C
A
C
G
G
A
G
C
T
G
G
G
G
G
T
T
G
C
C
A
T
G
G
A
T
12150 |
UTR
D I S C L R S 347
G
G
G
G
A
C
C
C
A
A
A
G
A
C
C
T
G
C
A
G
C
C
A
C
C
A
G
T
G
C
T
T
C
A
C
T
A
G
C
G
T
G
C
A
G
A
C
C
A
G
12200
C
C
C
T
G
T
C
C
C
G
C
C
T
C
C
C
T
T
G
T
C
A
G
T
C
A
G
G
C
G
A
A
T
T
C
A
A
C
C
G
G
A
A
A
A
G
G
G
A
C
12250 |
var(12218):[:0.99]
G
T
G
G
A
A
A
G
G
C
C
A
C
T
G
T
G
A
A
C
T
G
C
A
G
A
G
G
G
C
T
G
T
G
C
A
C
A
C
A
G
T
A
G
C
A
C
A
C
A
12300
G
G
A
T
C
T
C
A
C
A
G
T
A
A
C
G
C
G
G
C
A
T
G
G
G
A
A
C
A
G
T
G
A
G
A
C
A
G
G
G
G
G
A
G
G
G
G
A
G
G
12350 |
var(12329):[G:0.03]
C
G
C
A
G
T
T
A
C
A
A
A
G
G
C
A
G
G
G
C
C
C
G
G
C
A
G
G
C
T
T
G
C
C
A
C
G
T
T
C
T
G
C
A
G
C
C
G
T
G
12400 |
var(12383):[T:0.03]
C
C
T
T
T
G
C
G
G
G
G
C
A
G
G
C
T
C
T
G
A
A
G
C
C
T
C
A
G
C
C
C
G
A
C
T
C
A
G
A
G
T
G
C
C
T
G
A
A
C
12450
C
C
T
G
C
C
G
C
G
C
C
A
G
T
C
C
C
C
C
G
T
T
T
A
T
T
G
C
A
T
A
T
T
G
C
C
C
T
T
A
A
C
G
T
A
G
C
A
T
T
12500
T
C
T
A
A
T
A
C
C
C
T
G
G
T
G
T
G
A
A
G
G
C
G
C
C
C
T
A
G
A
C
C
C
C
T
T
T
T
C
T
C
T
G
G
T
C
A
C
A
G
12550
G
G
G
T
C
C
T
G
G
G
T
C
C
T
T
T
G
A
T
G
T
C
T
C
C
C
A
A
C
C
A
C
A
T
G
T
A
G
C
C
A
A
T
T
C
C
T
C
A
C
12600
T
C
A
G
G
C
C
C
C
C
A
G
A
G
T
G
A
G
C
C
T
T
T
G
A
A
A
T
G
G
A
A
C
A
G
G
T
C
T
A
G
G
C
T
C
C
C
T
C
G
12650 |
var(12632):[G:0.03]
|
var(12636):[A:0.03]
G
T
T
T
C
C
T
G
C
A
C
C
C
C
A
A
A
G
T
G
A
G
C
C
G
C
A
C
T
C
T
C
A
G
G
G
G
A
C
T
A
G
C
C
A
C
C
T
C
C
12700
T
T
C
T
T
A
A
G
A
G
G
G
T
T
T
G
G
G
G
C
A
G
T
T
T
A
T
A
A
T
A
A
A
G
G
G
G
G
C
G
T
G
T
G
C
T
C
A
A
C
12750 | Exon 8 |
UTR
C
CTAGCTAGG GTGA
T
T
T
T
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
T
T
T
T
G
A
G
A
C
C
G
A
12800 |
REPEAT
G
T
T
T
C
G
C
T
C
T
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
T
C
A
G
T
G
G
C
G
T
G
A
T
C
T
T
G
G
C
T
C
A
12850
C
T
G
C
A
A
C
C
T
C
T
G
G
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
A
C
T
C
C
C
12900
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
C
A
C
C
C
A
G
T
T
A
A
T
T
T
T
T
G
T
A
T
T
T
12950
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
G
T
G
T
T
G
G
C
C
A
G
G
C
T
T
G
T
C
T
C
A
A
A
C
T
C
C
T
13000
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
G
A
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
G
13050
G
T
G
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
G
G
C
C
ACTAAGGT GGTTTTTACC TGCACATCCA
13100
GCCTGCCTGT GTCC
C
CAGTG TCTGTTCCAT CAGGCAGTGG GGACACAGGC
13150 |
var(13115):[T:0.06]
AGACTGGAAG TCAAACACAA TCGAATAGGG ATATAGTTAC TCCAGAAAAT
13200
CTGAGCTAAA GCTAGAGGCT
A
CAACGGACA GGATTTCATT CC
A
GTTCTCC
13250 |
var(13221):[G:0.04]
|
var(13243):[C:0.07]
AGGGAGACTG GGTGAAGTGG AGCATGCTGG CAGAGCCACC ACACTCCCAA
13300
CTGTGTAGAG GGGTATGGAG CCCAG
C
AGCC GGACAACCCT GGGAGCTCCC
13350 |
var(13326):[A:0.01]
GTATCCAGGG TCACTGCAGC CCTGTGAGGT CACCAGTGGG CGTGGGACTC
13400
TGAGCCAATG GTGCAGGCCA GGATTAGAGG GCATGGGAAG ATGACCTCTC
13450
CAGTCTGGAT CCAGAAGGAC TTCAGAGGCC TACAGTGTGG TTCTGTCTGC
13500
CTGGCCACGC AGAGATGGGG TGGGGTATGG GTTCAGGGCT TGGCGGCCTG
13550
GTGCTCACCG CCCTGGAGAC AGCAGCATCT TTTTCATGGA AGGAGAAGAC
13600
AGAAAGGAGG GTGGGGTAGA CTCTGGTCAT ACTGGAACGG GCAGGCACCC
13650
ACCCACTTGG TCACC
C
GTGG AAAAGCTGGG GCCAGCCCTG AGTTCATTCT
13700 |
var(13666):[T:0.05]
TCCTTCACCT GTGGTTTGGC TGGCGAGCAG GGACAGACCC GAAGAGCGTG
13750
GACAGATGGA GTGACCAGTT GGAG
G
AGACA GACTGGGCTG GAGAGGCCTG
13800 |
var(13775):[A:0.02]
GAGTCTTGAA GGGGCACTGA GTGCCTCCTG G
G
C
A
G
A
G
G
G
G
C
A
G
G
A
A
T
G
G
A
13850 |
NOT SCANNED
A
C
C
A
T
G
G
C
C
T
C
T
G
T
G
T
C
C
C
T
C
A
T
A
G
G
G
A
G
C
A
C
C
T
G
C
T
C
C
A
G
G
G
G
A
G
G
G
G
T
13900
T
C
T
G
T
G
C
T
G
A
A
G
G
A
G
T
A
G
G
C
C
C
T
G
C
C
T
C
C
G
A
G
G
A
G
C
T
T
C
T
G
T
T
G
A
A
A
G
C
A
13950
C
A
G
A
G
A
G
G
G
C
C
A
T
G
G
A
G
C
G
C
T
G
G
A
C
T
C
A
G
C
T
G
G
G
T
G
G
A
T
G
G
C
T
G
G
G
A
G
A
T
14000
G
G
G
G
G
A
C
C
T
G
A
G
G
T
G
A
C
A
G
C
A
G
A
C
T
C
T
G
A
G
G
C
C
T
G
G
G
C
A
G
C
T
C
C
A
C
C
T
A
G
14050
C
A
G
G
G
G
A
G
A
A
G
T
C
C
C
C
C
A
T
A
C
C
C
C
C
C
T
C
A
C
C
C
C
A
C
T
T
A
C
A
C
C
C
A
G
C
T
T
T
A
14100
C
C
C
C
T
G
G
C
A
C
A
C
C
C
T
C
C
C
G
G
G
T
G
G
G
A
G
T
C
C
C
T
G
A
C
T
C
A
T
T
T
T
C
A
G
T
A
G
A
G
14150 |
REPEAT
G
A
A
A
C
T
G
A
G
A
C
T
C
T
G
A
G
A
G
G
T
C
A
C
C
A
T
G
A
G
C
T
T
G
C
C
T
G
T
G
A
T
G
T
G
G
C
T
C
A
14200
G
C
T
G
C
A
G
G
T
T
T
G
A
A
C
C
C
A
G
G
T
C
A
T
C
T
G
G
G
T
T
C
A
A
G
A
C
T
G
T
G
C
T
C
T
G
C
A
C
A
14250
G
G
G
T
G
G
G
A
G
G
A
G
T
G
C
A
G
C
T
C
T
G
A
A
G
G
T
G
A
G
T
G
C
A
T
T
G
T
G
G
A
G
G
A
G
G
A
T
A
C
14300
A
G
G
G
A
G
G
G
G
C
A
G
T
G
C
T
G
G
C
A
G
G
G
G
G
C
T
C
T
G
A
G
A
G
G
G
G
C
A
G
G
G
G
C
T
T
G
A
T
G
14350
G
G
G
T
C
C
C
T
G
G
G
T
C
A
G
G
A
T
G
G
C
C
C
C
A
G
G
A
G
G
C
T
A
G
A
G
T
T
G
G
G
G
T
A
T
A
G
G
G
A
14400
C
C
A
G
G
T
C
A
C
A
C
A
G
G
G
T
T
C
T
G
A
A
T
G
C
C
A
G
G
C
T
A
G
G
A
G
G
C
A
G
G
G
G
T
C
A
C
C
G
C
14450
A
G
G
C
C
T
G
T
C
C
C
A
G
C
A
G
G
G
G
G
A
T
C
A
A
T
A
T
A
T
A
T
G
G
G
G
C
C
C
A
A
G
C
G
C
T
G
G
A
C
14500
T
C
A
G
G
G
G
A
T
A
C
C
T
G
G
C
C
A
G
C
G
A
G
G
C
C
C
C
A
A
C
A
C
A
G
G
A
T
G
A
G
G
C
C
T
C
T
G
A
T
14550
G
A
C
C
A
G
C
T
C
G
G
G
G
A
T
G
A
G
T
G
A
C
G
G
G
G
A
A
G
A
G
C
C
A
T
G
A
A
G
T
G
G
G
G
G
T
C
A
C
C
14600
A
C
G
C
A
C
A
G
C
A
G
G
G
C
C
T
G
G
C
C
A
C
T
T
A
C
A