IGF2 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
TTTGAGACCT CTTTCTCTAT GTTCCCAATT GCATGGAGCA ACTTCTCTCA
50
TCCCCCAAAC CTGTAATCTA TTTTTCTGGA GTCTCGAGTT TAGTCATTAA
100
TCACGGTTCC CACATTAACG GAGTCCCCGG GGTCCCCTCC TCCAGGACAC
150
CCATTCGCTA AGCCCGCAAG GCAGAAAGAA CTCTGCCTTG CGTTCCCCAA
200
AATTTGGGCA TTGTTCCCGG CTCGCCGGCC ACCCACTGCA GCTTCCCCAA
250
CCCCGCGCAC AGCGGGCACT GGTTT
C
GGGC CTCTCTGTCT CCTACGAAGT
300 |
var(276):[A:0.01]
CCCCAGAGCA ACTCGGATTT GGGAAATTTC TCTCTAGCGT TGCCCAAACA
350
CACTTGGGTC GGCCGCGCGC CCTCAGGACG TGGACAGGGA GGGCTTCCCC
400
GTGTCCAGGA AAGCGACCGG GCATTGCCCC CAGTCTCCCC CAAATTTGGG
450
CATTGTCCCC GGGTCTTCCA ACGGACTGGG CGT
T
G
C
T
C
C
C
G
G
A
C
A
C
T
G
A
G
500 |
NOT SCANNED
G
A
C
T
G
G
C
C
C
C
G
G
G
G
T
C
T
C
G
C
T
C
A
C
C
T
T
C
A
G
C
A
G
C
G
T
C
C
A
C
C
G
C
C
T
G
C
C
A
C
550
A
G
A
G
C
G
T
T
C
G
A
T
C
G
C
T
C
G
C
T
G
C
C
T
G
A
G
C
T
C
C
T
G
G
T
G
C
G
C
C
C
G
C
G
G
A
C
G
C
A
600
G
C
C
T
C
C
A
G
C
T
T
C
G
C
G
G
T
G
A
G
C
T
C
C
C
C
G
C
C
G
C
G
C
C
G
A
T
C
C
C
C
T
C
C
G
C
C
T
C
T
650
G
C
G
C
C
C
C
T
G
A
C
C
G
G
C
T
C
T
C
G
G
C
C
C
G
C
A
T
C
T
G
C
T
G
C
T
G
T
C
C
C
G
C
C
G
G
T
G
C
T
700
G
G
C
G
C
T
C
G
T
C
T
C
C
G
G
C
T
G
C
C
G
C
C
G
G
G
G
A
G
G
C
C
G
G
C
G
T
G
G
G
G
C
G
C
G
G
G
A
C
A
750
C
G
G
C
T
G
C
G
G
A
C
T
T
G
C
G
G
C
T
G
G
C
G
G
C
T
G
C
G
C
T
C
G
C
T
C
C
T
G
C
T
G
G
G
C
G
C
C
C
C
800
G
A
A
A
T
C
C
G
C
G
C
C
A
C
T
T
T
C
G
T
T
T
G
C
T
C
A
T
T
G
C
A
A
A
G
A
T
C
T
C
A
T
T
C
G
T
G
G
G
G
850
A
A
A
G
C
G
G
C
T
G
G
A
G
G
G
T
C
C
C
A
A
A
G
T
G
G
G
G
C
G
G
G
C
A
G
G
G
G
G
C
T
G
G
G
G
C
G
A
G
G
900
G
A
C
G
C
G
G
A
G
G
A
G
A
G
G
C
G
C
T
C
C
C
G
C
C
G
G
G
C
G
G
T
A
A
A
G
T
G
C
C
T
C
T
A
G
C
C
C
G
C
950
G
G
G
C
C
T
A
G
G
A
C
T
C
C
G
C
C
G
G
G
A
G
G
C
G
C
G
C
G
C
G
G
A
G
C
G
C
G
G
G
C
G
A
A
G
T
G
A
T
T
1000
G
A
T
G
G
C
G
G
A
G
C
G
A
G
G
G
G
G
G
C
G
A
G
G
G
G
G
G
C
C
A
G
G
G
G
G
G
C
G
C
G
A
G
A
T
T
C
C
G
C
1050
C
G
G
C
G
G
C
C
C
C
T
T
C
C
C
C
T
T
G
G
C
T
A
G
G
C
T
T
A
G
G
C
G
G
C
G
G
G
G
G
G
C
T
G
G
C
G
G
G
G
1100
T
G
C
G
G
G
A
T
T
T
T
G
T
G
C
G
T
G
G
T
T
T
T
T
G
A
C
T
T
G
G
T
A
A
A
A
A
T
C
A
C
A
G
T
G
C
T
T
T
C
1150
T
T
A
C
A
T
C
G
T
T
C
A
A
A
C
T
C
T
C
C
A
G
G
A
G
A
T
G
G
T
T
T
C
C
C
C
A
G
A
C
C
C
C
C
A
A
A
T
T
A
1200
T
C
G
T
G
G
T
G
G
C
C
C
C
C
G
A
G
A
C
C
G
A
A
C
T
C
G
C
G
T
C
T
A
T
G
C
A
A
G
T
C
C
A
A
C
G
C
A
C
T
1250
G
A
G
G
A
C
G
G
G
G
T
A
A
C
C
A
T
T
A
T
C
C
A
G
A
T
A
T
T
T
T
G
G
G
T
G
G
G
C
C
G
C
A
A
A
G
G
C
G
A
1300
G
C
T
A
C
T
T
A
G
A
C
G
C
A
C
C
C
C
G
G
T
G
A
G
C
T
C
G
G
C
C
A
T
G
C
A
G
G
T
A
G
G
A
T
T
T
G
A
G
C
1350
T
G
T
G
T
T
T
C
C
C
G
C
C
C
T
G
A
T
C
C
T
C
T
C
T
C
C
T
C
T
G
G
C
G
G
C
C
G
G
A
G
C
C
T
C
C
G
T
A
G
1400
G
C
T
C
C
A
A
G
C
C
T
G
G
C
C
C
A
G
A
T
T
C
G
G
C
C
C
G
G
C
G
C
A
G
C
C
G
G
C
C
T
T
C
C
G
C
G
C
G
T
1450
C
C
C
G
C
A
C
C
T
G
G
C
G
G
G
G
G
C
T
C
C
G
G
G
G
C
T
C
C
G
G
C
G
C
G
G
C
A
C
C
G
G
G
G
G
G
C
G
C
T
1500
C
G
G
G
A
T
C
T
G
G
C
T
G
A
G
G
C
T
C
C
A
A
G
C
G
C
C
G
C
G
T
G
G
C
C
G
G
C
T
C
C
T
C
C
T
G
C
T
G
G
1550
G
G
C
A
G
G
T
G
G
C
G
G
C
T
G
C
G
C
G
C
C
C
C
G
C
C
C
G
A
G
C
C
C
A
G
G
G
G
C
C
C
C
C
T
C
A
G
C
C
G
1600
C
A
A
C
A
A
C
C
A
G
C
A
A
G
G
A
C
C
C
C
C
C
G
A
C
T
C
A
G
C
C
C
C
A
A
G
C
C
A
C
C
T
G
C
A
T
C
T
G
C
1650
A
C
T
C
A
G
A
C
G
G
G
G
C
G
C
A
C
C
C
G
C
A
G
T
G
C
A
G
C
C
T
C
C
T
G
G
T
G
G
G
G
C
G
C
T
G
G
G
A
G
1700
C
C
C
G
C
C
T
G
C
C
C
C
T
G
C
C
T
G
C
C
C
G
G
A
G
A
C
C
C
C
A
G
C
T
C
A
C
G
A
G
C
A
C
A
G
G
C
C
G
C
1750
C
C
G
G
G
C
A
C
C
C
C
A
G
A
A
A
C
C
C
G
G
G
A
T
G
G
G
G
C
C
C
C
T
G
A
A
T
T
C
T
C
T
A
G
A
A
C
G
G
G
1800
C
A
T
T
C
A
G
C
A
T
G
G
C
C
T
T
G
G
C
G
C
T
C
T
G
C
G
G
C
T
C
C
C
T
G
C
C
C
C
C
C
A
C
C
C
A
G
C
C
T
1850
C
G
C
C
C
C
C
G
C
G
C
A
C
C
C
C
C
C
A
G
C
C
C
C
T
G
C
G
A
C
C
G
C
C
G
C
C
C
C
C
C
C
C
C
C
C
G
G
G
C
1900
C
C
C
A
G
G
G
C
C
C
C
C
A
G
C
C
C
G
C
A
C
C
C
C
C
C
G
C
C
C
C
G
C
T
C
T
T
G
G
C
T
C
G
G
G
T
T
G
C
G
1950
G
G
G
G
C
G
G
G
C
C
G
G
G
G
G
C
G
G
G
G
C
G
A
G
G
G
T
C
C
G
C
G
G
G
C
A
C
C
C
A
T
T
G
G
C
G
C
G
G
G
2000
C
G
C
G
A
G
G
C
C
A
G
C
G
A
G
G
C
C
C
G
C
G
C
G
G
G
C
C
C
T
G
G
G
C
C
G
C
G
G
G
C
T
G
G
C
G
C
G
A
C
2050
T
A
T
A
A
G
A
G
C
C
G
G
G
C
G
T
G
G
G
C
G
C
C
C
G
C
A
G
T
T
C
G
C
C
T
G
C
T
C
T
C
C
G
G
C
G
G
A
G
C
2100
T
G
C
G
T
G
A
G
G
C
C
C
G
G
C
C
G
G
C
C
C
C
G
G
C
C
C
C
C
C
C
C
T
T
C
C
G
G
C
C
G
C
C
C
C
C
G
C
C
T
2150
C
C
T
G
G
C
C
C
A
C
G
C
C
T
G
C
C
C
G
C
G
C
T
C
T
G
C
C
C
A
C
C
A
G
C
G
C
C
T
C
C
A
T
C
G
G
G
C
A
A
2200
G
G
C
G
G
C
C
C
C
G
C
G
T
C
G
A
C
G
C
C
G
C
C
C
G
C
T
G
C
C
T
C
G
C
T
G
C
T
G
A
C
T
C
C
C
G
T
C
C
C
2250
G
G
G
C
G
C
C
G
T
C
C
G
C
G
G
G
G
T
C
G
C
G
C
T
C
C
G
C
C
G
G
G
C
C
T
G
C
G
G
A
T
T
C
C
C
C
G
C
C
G
2300
C
C
T
C
C
T
C
T
T
C
A
T
C
T
A
C
C
T
C
A
A
C
T
C
C
C
C
C
C
A
T
C
C
C
C
G
C
T
T
C
G
C
C
C
G
A
G
G
A
G
2350
G
C
G
G
T
T
C
C
C
C
C
C
G
C
A
G
G
C
A
G
T
C
C
G
G
C
T
C
G
C
A
G
G
C
C
G
C
C
G
G
C
G
T
T
G
T
A
A
C
C
2400
C
C
C
C
A
A
A
G
C
G
C
T
C
C
C
C
C
T
C
C
A
G
C
C
C
T
C
C
C
C
C
C
G
G
C
G
C
G
C
A
G
C
C
T
C
G
G
G
C
C
2450
G
C
T
C
C
C
C
T
T
T
C
C
G
C
G
C
T
G
C
G
T
C
C
C
G
G
A
G
C
G
G
C
C
C
C
G
G
T
G
C
C
G
C
C
A
C
C
G
C
C
2500
T
G
T
C
C
C
C
C
T
C
C
C
G
A
G
G
C
C
C
G
G
G
C
T
C
G
C
G
A
C
G
G
C
A
G
A
G
G
G
C
T
C
C
G
T
C
G
G
C
C
2550
C
A
A
A
C
C
G
A
G
C
T
G
G
G
C
G
C
C
C
G
C
G
G
T
C
C
G
G
G
T
G
C
A
G
C
C
T
C
C
A
C
T
C
C
G
C
C
C
C
C
2600
C
A
G
T
C
A
C
C
G
C
C
T
C
C
C
C
C
G
G
C
C
C
C
T
C
G
A
C
G
T
G
G
C
G
C
C
C
T
T
C
C
C
T
C
C
G
C
T
T
C
2650
T
C
T
G
T
G
C
T
C
C
C
C
G
C
G
C
C
C
C
T
C
T
T
G
G
C
G
T
C
T
G
G
C
C
C
C
G
G
C
C
C
C
C
G
C
T
C
T
T
T
2700 | Exon 1 |
UTR
C
T
C
C
C
G
C
A
A
C
C
T
T
C
C
C
T
T
C
G
C
T
C
C
C
T
C
C
C
G
T
C
C
C
C
C
C
C
A
G
C
T
C
C
T
A
G
C
C
T
2750
C
C
G
A
C
T
C
C
C
T
C
C
C
C
C
C
C
T
C
A
C
G
C
C
C
G
C
C
C
T
C
T
C
G
C
C
T
T
C
G
C
C
G
A
A
C
C
A
A
A
2800
G
T
G
G
A
T
T
A
A
T
T
A
C
A
C
G
C
T
T
T
C
T
G
T
T
T
C
T
C
T
C
C
G
T
G
C
T
G
T
T
C
T
C
T
C
C
C
G
C
T
2850
G
T
G
C
G
C
C
T
G
C
C
C
G
C
C
T
C
T
C
G
C
T
G
T
C
C
T
C
T
C
T
C
C
C
C
C
T
C
G
C
C
C
T
C
T
C
T
T
C
G
2900
G
C
C
C
C
C
C
C
C
T
T
T
C
A
C
G
T
T
C
A
C
T
C
T
G
T
C
T
C
T
C
C
C
A
C
T
A
T
C
T
C
T
G
C
C
C
C
C
C
T
2950
C
T
A
T
C
C
T
T
G
A
T
A
C
A
A
C
A
G
C
T
G
A
C
C
T
C
A
T
T
T
C
C
C
G
A
T
A
C
C
T
T
T
T
C
C
C
C
C
C
C
3000
G
A
A
A
A
G
T
A
C
A
A
C
A
T
C
T
G
G
C
C
C
G
C
C
C
C
A
G
C
C
C
G
A
A
G
A
C
A
G
C
C
C
G
T
C
C
T
C
C
C
3050
T
G
G
A
C
A
A
T
C
A
G
A
C
G
A
A
T
T
C
T
C
C
C
C
C
C
C
C
C
C
G
C
A
A
A
A
A
A
A
A
G
C
C
A
T
C
C
C
C
C
3100
C
G
C
T
C
T
G
C
C
C
C
G
T
C
G
C
A
C
A
T
T
C
G
G
C
C
C
C
C
G
C
G
A
C
T
C
G
G
C
C
A
G
A
G
C
G
G
C
G
C
3150
T
G
G
C
A
G
A
G
G
A
G
T
G
T
C
C
G
G
C
A
G
G
A
G
G
G
C
C
A
A
C
G
C
C
C
G
C
T
G
T
T
C
G
G
T
T
T
G
C
G
3200
A
C
A
C
G
C
A
G
C
A
G
G
G
A
G
G
T
G
G
G
C
G
G
C
A
G
C
G
T
C
G
C
C
G
G
C
T
T
C
C
A
G
G
T
A
A
G
C
G
G
3250
C
G
T
G
T
G
C
G
G
G
C
C
G
G
G
C
C
G
G
G
G
C
C
G
G
G
G
C
T
G
G
G
G
C
G
G
C
G
C
G
G
G
C
T
T
G
C
G
C
C
3300
G
G
A
C
G
C
C
C
G
G
C
C
C
T
T
C
C
T
C
C
G
C
C
C
G
C
T
C
C
C
G
G
C
C
C
G
G
G
G
C
C
T
G
C
G
G
T
G
C
T
3350
C
G
G
C
G
G
G
G
C
G
G
C
T
G
A
G
C
C
C
G
G
G
G
G
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
G
G
A
C
G
3400
G
A
C
G
G
C
T
G
C
G
G
G
T
C
C
C
G
T
T
C
C
C
T
G
C
G
C
G
G
A
G
C
C
C
C
G
C
G
C
T
C
A
C
C
C
T
G
G
C
G
3450
G
C
T
G
A
G
C
T
G
G
G
G
G
T
G
G
G
G
T
G
G
G
G
G
C
G
T
C
G
G
G
A
A
G
G
G
C
C
G
A
G
G
G
A
G
G
T
G
T
G
3500
A
G
G
T
G
T
C
T
G
C
A
G
G
G
G
C
G
A
C
T
T
C
C
C
G
G
T
C
G
G
T
C
T
G
T
G
G
G
T
G
C
A
G
G
G
G
G
T
G
C
3550
C
G
C
C
T
C
A
C
A
T
G
T
G
T
G
A
T
T
C
G
T
G
C
C
T
T
G
C
G
G
G
C
C
C
T
G
G
C
C
T
C
C
G
G
G
G
T
G
C
T
3600
G
G
G
T
A
A
C
G
A
G
G
A
G
G
G
G
C
G
C
G
G
A
C
C
G
C
A
G
A
A
G
C
C
C
A
C
C
C
T
G
G
T
A
T
G
T
T
G
A
C
3650
G
C
G
G
T
G
C
C
A
G
C
G
A
G
A
C
C
G
C
G
A
G
A
G
G
A
A
G
A
C
G
G
G
G
G
T
G
G
G
C
G
G
G
G
C
C
A
G
G
A
3700
T
G
G
A
G
A
G
G
G
G
C
C
G
A
G
T
T
G
G
C
A
G
G
A
G
T
C
A
T
G
G
C
A
G
A
C
G
C
C
A
C
A
T
T
C
G
C
G
A
C
3750
A
T
C
T
C
C
C
C
C
A
C
A
C
C
C
C
C
T
C
T
G
G
C
T
C
T
G
T
C
C
G
C
A
A
C
A
T
T
T
C
C
A
A
A
C
A
G
G
A
G
3800
T
C
C
C
G
G
G
A
G
A
G
G
G
G
G
A
G
A
G
G
G
G
C
T
G
C
T
G
G
T
C
T
G
A
G
G
C
T
A
A
G
A
A
G
G
G
C
A
G
A
3850
G
C
C
T
T
C
G
A
C
C
C
G
G
A
G
A
G
A
G
G
C
C
G
C
G
G
C
C
C
C
T
G
C
C
C
A
G
T
G
G
G
C
A
G
C
G
T
G
G
A
3900
A
G
T
T
T
C
C
A
T
A
C
A
A
G
G
A
G
G
T
G
G
G
A
A
G
G
A
A
A
C
C
C
C
C
C
C
C
C
C
C
T
T
C
A
C
T
G
C
C
C
3950
T
G
T
G
C
A
G
A
G
A
T
G
A
G
C
C
G
G
G
G
G
T
G
C
A
G
G
A
T
G
G
G
A
G
C
C
C
A
T
G
G
C
A
C
T
T
C
G
C
T
4000
A
C
G
G
G
A
T
G
G
T
C
C
A
G
G
G
C
T
C
C
C
G
G
T
T
G
G
G
G
G
T
G
C
A
G
G
A
G
A
G
A
A
G
A
G
A
C
T
G
G
4050
C
T
G
G
G
A
G
G
A
G
G
G
A
G
A
G
G
G
C
G
G
G
A
G
C
A
AAGG CGCGGGGGAG TGGTCAGCAG
4100
GGAGAGGGGT GGGGGGTAGG GTGGAGCCCG GGCTGGGAGG AGTCGGCTCA
4150
CACATAAAAG CTGAGGCACT GACCAGCCTG CAAACTGGAC ATTAGCTTCT
4200
CCTGTGAAAG AGACTTCCAG CTTCCTCCTC CTCCTCTTCC TCCTCCTCCT
4250
CCTGCCCCAG CGAGCCTTCT GCTGAGCTGT AGGTAACCAG GGCTGTGGAG
4300
TGAGGACCCC CGCTGCCATC CCACTCCAGC CTGAGGCAGG GCAGCAGGGG
4350
GCACGGCCCA CGCCTGGGCC TCGGGCCCTG CAGCCGCCAG CCCGCTGCCT
4400
CTCGGACAGC ACCCCCCTCC CCTCTTTTCC TCTGCCCCTG CCCCCACCTG
4450
GTCTCTGCTC CCTCACCTGC TCCTTCCCTT TCTGTTCCTT CCCTTCGGCC
4500
CCCTCCTTGC CCAGCTCAGG
G
CTTTTCCTG GGCCCTCACC TGCTCCGCAC
4550 |
var(4521):[A:0.29]
CGCTGCATGC TTCCTGTCCT GCTTTCTGCC GGTCCCCTGA CCCGGACCTC
4600
CAAGTTCAGA GTGGTGGGGC TTGTTGCGGA AGCGCGGCGA GGGCTAGAGT
4650
GGCCAGCTGG CGGAGTGTGC TCTTAGAATT TGGAAGGGGG TGGCAGAGGG
4700
GGCGGTGAGA GGACTGGCCA GGGTCCAGTC AAGGAGATGA CCAAGGAGGC
4750
TTTCAGATCC TCGGCGCAGC TGCCCACTAG TCTTTAGAGA GGGCATGCAA
4800
AGTTGTGCTT CTGTCCCACT GCCTGCTCAG TCGCTCACAT AATTTATTGC
4850
ATCAAAAACT CCCCTGGGTC TGCGGAGCGA AGGCTGGGGC TGCCCGCCTG
4900
GAGGGT
T
CCA CCTTCTGCAG GGGCAGGGCC AACTTGCTGT GGTGGCTCCC
4950 |
var(4907):[A:0.11]
GGCCTCCCAC CCCCGAGTGG GTTAACCCGG CCCTGTGGCC CTGCAGCCTG
5000
TGGAGGGGGT GTGTCCTAAG ACTGGCCTCC CCTTCCAGAT TGTAGTCTGG
5050
GGAACCTGGT GTCGGACTTC CCAGGTGGCC TGAGCTGGTC TCTCCAGCTC
5100
CCACGGGGAG AGTTTGGTAG CGCAAATAGG GAGATGTTCT GGAGGCCCCT
5150
GGCCTTACTG GTTCGATTTG AGGCCTGG
A
A AGGAGGCTCT GGGCGTGTGT
5200 |
var(5179):[T:0.09]
GTGTGTGTTT GGGGGTACCC AAGGCAGACT GGAGTTGGAG AACTGGGTGA
5250
CTGGGAAAAC AAGGTTTCTA GAGCATGGGT GGCGTGGTTG TGTTAACCAT
5300
TGGAGTCCTT GACCCAGGCC TGGCTCAGCT GCAGACTGGA AAGGTGGAAA
5350
AGCCAGGGGG AGGGGCGGGG CTGGCCCAGC AGGACTGGCC TGCTGCTTTG
5400
AGGGCGATGG TCCTCCTGGA CCCCCCCTGC TCAGCTGGGG GTTGTGGGGA
5450
GGAAGGGACT GGTCCTCCTG GATGCACATG CTCTGTAGGG GTGGGGCTGT
5500
CTGCCATCTT GGCTGGCGCT GGAGGCCTGA GAAGTGGCGA TGTGACGCT
G
5550 |
var(5550):[A:0.04]
GGCTGGCCCT GCCCCCATGG
T
GTCATAGGA CGGAGGCCAG GTCGGGTGTC
5600 |
var(5571):[C:0.10]
CAGCCTGGGC CCCTGCAGCT GTGGATGCCG CTGAGCTCCT GCAATAATGA
5650
CCGTG
C
AGAT GGTCACCCCT CGTGTAAAAT TACTAGTGCT TCTTGCAAAT
5700 |
var(5656):[G:0.42]
GGAAGGAACT GGGCCTTTTC TGTGTGCTTC TGGA
C
GCTTC ATTCTGCACA
5750 |
var(5735):[T:0.01]
TGGCCCTGCG CCCTCACCT
C
GGCATTATGA CCTGTGTGTT ACTTTT
G
TAA
5800 |
var(5770):[T:0.10]
|
var(5797):[C:0.01]
TAAAAATAAT GTTTATAGGA AAGCCGTGCT TTCAATTTTC AACTGAATTT
5850
GTAGGTTGGC AAATTTGGTT TGGGAGGGGC ACCTCTGGCC TGGGGCTTGG
5900
CCTGGCTGCC CCGCTCACGC CACTTCTCTC CCGCCCCCAG
A
C
A
C
C
A
A
T
G
G
5950 | Exon 2 |
UTR
M 1
G
A
A
T
C
C
C
A
A
T
G
G
G
G
A
A
G
T
C
G
A
T
G
C
T
G
G
T
G
C
T
T
C
T
C
A
C
C
T
T
C
T
T
G
G
C
C
T
T
C
6000
G I P M G K S M L V L L T F L A F 18
G
C
C
T
C
G
T
G
C
T
G
C
A
T
T
G
C
T
G
C
T
T
A
C
C
G
C
C
C
C
A
G
T
G
A
G
A
C
C
C
T
G
T
G
C
G
G
C
G
G
6050
A S C C I A A Y R P S E T L C G G 35
G
G
A
G
C
T
G
G
T
G
G
A
C
A
C
C
C
T
C
C
A
G
T
T
C
G
T
C
T
G
T
G
G
G
G
A
C
C
G
C
G
G
C
T
T
C
T
A
C
T
6100
E L V D T L Q F V C G D R G F Y 51
T
C
A
GTAAGTA GCTGGGAGGG GCTTCCTCAG ACCTGGTCAG GCCCCTAGAG
6150
F 52
TGACCGGTGA GGA
T
GCCCAA CCTCAAGCCA GGGGAGCACA CTCCTAGGTC
6200 |
var(6164):[C:0.43]
AGCAGCCCAG CCGCTTGCTC TGAGACTTTG ACCTTCCCGC CGCGTTTCTG
6250
AGCACGTGCG GTGTCCCAGG GCATCCACAC CAGCTGCCTT TCCCATCACA
6300
CGCCTCCTTC GAAGGGTGGG CCAGAGGTGC CCCCTAGACG TCAGGGGCAC
6350
TCACAGGGGT CTCCCTGGGC ATCAGAATTT CTGTTGGGGG CCGTGAGGCT
6400
CCTGCTCCTG AGGCACCGCA CGCCTAGTGC AGGGCTTCAG GCTCTGGAGG
6450
AAGAGCCTGC CTTTCTTCCT GCACCTTTTG GACATT
T
TGA CAAGGGACGT
6500 |
var(6487):[C:0.33]
GCGTTCGGTG AATGATCAGA ATTAAAATCA ATAAAGTGAT TTAT
A
TAATT
6550 |
var(6545):[G:0.04]
AAAATCAATA AGACAAGTGC AGTTGGTGGG TGGCAGG
G
GT GAGCGGTGCA
6600 |
var(6588):[A:0.01]
TGCGCCTCCT TGGGCCCCAA GGCTGCCGTG GGGGGTGCCC ACCTGCTGAC
6650
CTCAAGGACG CTTCAGCCTT TCCTCATGTT TCTCTCTTGG TTCTCCAGCC
6700
TGGGGGCTGG CAGGT
G
GGTG CATGGCCCAT TGTCCTTGAG ACCCCACCCC
6750 |
var(6716):[C:0.06]
CAGATAGGGG GGCTGGGTGG ATGCAGAGGC AGGCATGGTG CCTGGGCATG
6800
CCTGATGGGG CAGGGGAGGG GCC
G
CTCCTT ACTGGCAGAG GCCGCACGGC
6850 |
var(6824):[A:0.11]
TTATTCCACC TGACACTCAC CACGTGACAT CTTTACCACC ACTGCTTACT
6900
CACGCTGTGA AATGGGCTCA CAGGATGCAA ATGCACTTCA AAGCTTCTCT
6950
CTGAAAAGTT CCTGCTGCTT GACTCTGGAA GCCCCTGCCC GCCCTGGCCT
7000
CTCCTGTGCC CTCTCTCTTG CCTGCCCCAT TTGGGGGTAG GAAGTGGCAC
7050
TGCAGGGCCT GGTGCCAGCC AGTCCTTGCC CAGGGAGAAG CTTCCCTGCA
7100
CCAGGCTTTC CTGAGAGGAG GGGAGGGCCA AGCCCCCACT TGGGGGACCC
7150
CCGTGATGGG GCTCCTGCTC CCTCCTCCGG CTGATGGCAC CTGCCCTTTG
7200
GCACCCCAAG GTGGAGCCCC CAGCGACCTT CCCCTTCCAG CTGAGCATTG
7250
CTGTGGGGGA GAGGGGGAAG ACGGGAGGAA AGAAGGGAGT GGTTCCATCA
7300
CGCCTCCTCA CTCCTCTCCT CCCGTCTTCT CCTCTCCTGC CCTTGTCTCC
7350
CTGTCTCAGC AGCTCCAGGG GTGGTGTGGG CCCCTCCAGC CTCCTAGGTG
7400
GTGCCAGGCC AGAGTCCAAG CTCAGGGACA GCAGTCCCTC CTGTGGGGGC
7450
CCCTGAACTG GGCTCACATC CCACACATTT TCCAAACCAC TCCCATTGTG
7500
AGCCTTTGGT CCTGGTGGTG TCCCTCTGGT TGTGGGACCA AGAGCTTGTG
7550
CCCATTTTTC ATCTGAGGAA GGAG
G
CAGCA GAGGCCACGG GCTGGTCTGG
7600 |
var(7575):[A:0.02]
GTCCCACTCA CCTCCCCTCT CACCTCTCTT CTTCCTGGGA CGCCTCTGCC
7650
TGCCAGCTCT CACTTCCCTC CCC
C
TGACCC GCAGGGTGGC TGCGTCCTTC
7700 |
var(7674):[:0.98]
CAGGGCCTGG CCTGAGGGCA GGGGTGGTTT GCTCCC
C
CTT CAGCCTCCGG
7750 |
var(7737):[T:0.18]
GGGCTGGGGT CAGTGCGGTG CTAACACGG
C
TCTCTCTGTG CTGTGGGACT
7800 |
var(7780):[G:0.08]
TCCAG
G
C
A
G
G
C
C
C
G
C
A
A
G
C
C
G
T
G
T
G
A
G
C
C
G
T
C
G
C
A
G
C
C
G
T
G
G
C
A
T
C
G
T
T
G
7850 | Exon 3
S R P A S R V S R R S R G I V 67
A
G
G
A
G
T
G
C
T
G
T
T
T
C
C
G
C
A
G
C
T
G
T
G
A
C
C
T
G
G
C
C
C
T
C
C
T
G
G
A
G
A
C
G
T
A
C
T
G
T
7900 |
var(7882):[G:0.02]
E E C C F R S C D L A L L E T Y C 84
G
C
T
A
C
C
C
C
C
G
C
C
A
A
G
T
C
C
G
A
G
A
G
G
G
A
C
G
T
G
T
C
G
A
C
C
C
C
T
C
C
G
A
C
C
G
T
G
C
T
7950
A T P A K S E R D V S T P P T V L 101
T
C
C
G
GTGAGG GTCCTGGGCC CCTTTCCCAC TCTCTAGAGA CAGAGAAATA
8000
P 102
GGGCTTCGGG CGCCCAGCGT TTCCTGTGGC CTCTGGGACC TCTTGGCCAG
8050
GGACAAGGAC CCGTGACTTC CTTGCTTGCT GTGTGGCCCG GGAGCAGCTC
8100
AGACGCTGGC TCCTTCTGTC CCTCTGCCCG TGGACATTAG CTCAAGTCAC
8150
TGATCAGTCA CAGGGGTGGC CTGTCAGGTC AGGCGGGCGG CTCAGGCGGA
8200
AGAGCGTGGA GAGCAGGCAC CTGCTGACCA GCCCCTTCCC CTCCCAG
G
A
C
8250 | Exon 4
D 103
A
A
C
T
T
C
C
C
C
A
G
A
T
A
C
C
C
C
G
T
G
G
G
C
A
A
G
T
T
C
T
T
C
C
A
A
T
A
T
G
A
C
A
C
C
T
G
G
A
A
8300
N F P R Y P V G K F F Q Y D T W K 120
G
C
A
G
T
C
C
A
C
C
C
A
G
C
G
C
C
T
G
C
G
C
A
G
G
G
G
C
C
T
G
C
C
T
G
C
C
C
T
C
C
T
G
C
G
T
G
C
C
C
8350
Q S T Q R L R R G L P A L L R A 136
G
C
C
G
G
G
G
T
C
A
C
G
T
G
C
T
C
G
C
C
A
A
G
G
A
G
C
T
C
G
A
G
G
C
G
T
T
C
A
G
G
G
A
G
G
C
C
A
A
A
8400
R R G H V L A K E L E A F R E A K 153
C
G
T
C
A
C
C
G
T
C
C
C
C
T
G
A
T
T
G
C
T
C
T
A
C
C
C
A
C
C
C
A
A
G
A
C
C
C
C
G
C
C
C
A
C
G
G
G
G
G
8450
R H R P L I A L P T Q D P A H G G 170
C
G
C
C
C
C
C
C
C
A
G
A
G
A
T
G
G
C
C
A
G
C
A
A
T
C
G
G
A
A
G
T
G
A
G
C
A
A
A
A
C
T
G
C
C
G
C
A
A
G
8500 |
UTR
A P P E M A S N R K 180
T
C
T
G
C
A
G
C
C
C
G
G
C
G
C
C
A
C
C
A
T
C
C
T
G
C
A
G
C
C
T
C
C
T
C
C
T
G
A
C
C
A
C
G
G
A
C
G
T
T
8550 |
var(8513):[T:0.08]
|
var(8544):[A:0.01]
T
C
C
A
T
C
A
G
G
T
T
C
C
A
T
C
C
C
G
A
A
A
A
T
C
T
C
T
C
G
G
T
T
C
C
A
C
G
T
C
C
C
C
C
T
G
G
G
G
C
8600
T
T
C
T
C
C
T
G
A
C
C
C
A
G
T
C
C
C
C
G
T
G
C
C
C
C
G
C
C
T
C
C
C
C
G
A
A
A
C
A
G
G
C
T
A
C
T
C
T
C
8650
C
T
C
G
G
C
C
C
C
C
T
C
C
A
T
C
G
G
G
C
T
G
A
G
G
A
A
G
C
A
C
A
G
C
A
G
C
A
T
C
T
T
C
A
A
A
C
A
T
G
8700
T
A
C
A
A
A
A
T
C
G
A
T
T
G
G
C
T
T
T
A
A
A
C
A
C
C
C
T
T
C
A
C
A
T
A
C
C
C
T
C
C
C
C
C
C
AAATT
8750
ATCCCCAATT ATCCCCACAC ATAAAAAATC AAAACATTAA ACTAACCCCC
8800
TTCCCCCCCC CCCACAACAA CCCTCTTAAA ACTAATTGGC TTTT
T
A
G
A
A
A
8850 |
NOT SCANNED
C
A
C
C
C
C
A
C
A
A
A
A
G
C
T
C
A
G
A
A
A
T
T
G
G
C
T
T
T
A
A
A
A
A
A
A
A
C
A
A
C
C
A
C
C
A
A
A
A
A
8900
A
A
A
T
C
A
A
T
T
G
G
C
T
A
A
A
A
A
A
A
A
A
A
A
G
T
A
T
T
A
A
A
A
A
C
G
A
A
T
T
G
G
C
T
G
A
G
A
A
A
8950
C
A
A
T
T
G
G
C
A
A
A
A
T
A
A
A
G
G
A
A
T
T
T
G
G
C
A
C
T
C
C
C
C
A
C
C
C
C
C
C
T
C
T
T
T
C
T
C
T
T
9000
C
T
C
C
C
T
T
G
G
A
C
T
T