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. 2017 Mar 29;17(5):599–605. doi: 10.1007/s10142-017-0557-9

Table 5.

Identified SNVs, genotypes and allele frequency (px) within the CfPAG-L sequence

Type of SNV Position Segment Homozygous Heterozygous
nt n px nt n px nt n px
1 Transition 109 Intron A gg 4 0.27 aa 0 0 ga 11 0.73
2 Transversion 112 Intron A tt 4 0.27 gg 0 0 tg 11 0.73
3 Transition 2634 Exon 3 gg 0 0 aa 0 0 ga 15 1.0
4 Transition 2655 Exon 3 cc 0 0 tt 0 0 ct 15 1.0
5 Transition 2668 Intron C cc 0 0 tt 0 0 ct 15 1.0
6 Transition 2671 Intron C gg 0 0 aa 0 0 ga 15 1.0
7 Transition 2676 Intron C gg 0 0 aa 0 0 ga 15 1.0
8 Transition 2702 Intron C gg 0 0 aa 0 0 ga 15 1.0
9 Transition 2721 Intron C gg 0 0 aa 0 0 ga 15 1.0
10 Transition 2738 Intron C gg 0 0 aa 0 0 ga 15 1.0
11 Transition 3803 Intron D tt 0 0 cc 0 0 tc 15 1.0
12 Transition 3822 Intron D gg 0 0 aa 0 0 ga 15 1.0
13 Transition 3890 Intron D gg 0 0 aa 0 0 ga 15 1.0
14 Transition 3912 Intron D gg 2 0.14 aa 0 0 ga 13 0.86
15 Transversion 3936 Intron D gg 4 0.27 cc 0 0 gc 11 0.73
16 Transversion 4098 Intron D gg 0 0 tt 1 0.07 gt 14 0.93
17 Transversion 4124 Intron D aa 1 0.07 cc 1 0.07 ac 13 0.86
18 Transition 4131 Intron D cc 0 0 tt 0 0 ct 15 1.0
19 Transition 4141 Intron D cc 0 0 tt 0 0 ct 15 1.0
20 Transversion 4221 Exon 5 aa 0 0 cc 0 0 ac 15 1.0
21 Transversion 6101 Intron G tt 0 0 gg 0 0 tg 15 1.0
22 Transition 6152 Intron G cc 0 0 tt 0 0 ct 15 1.0
23 Transition 6948 Intron H cc 0 0 tt 0 0 ct 15 1.0
24 Transition 6981 Intron H aa 0 0 gg 0 0 ag 15 1.0
25 Transition 6993 Intron H cc 12 0.8 tt 0 0 ct 3 0.2
26 Transversion 7138 Intron H aa 0 0 tt 0 0 at 15 1.0
27 Transition 7140 Intron H tt 0 0 cc 0 0 tc 15 1.0
28 Transition 7345 Intron H cc 0 0 tt 0 0 ct 15 1.0
29 Transition 7406 Intron H cc 0 0 tt 0 0 ct 15 1.0
30 Transition 7537 Exon 9 cc 0 0 tt 0 0 ct 15 1.0
31 Transition 7549 Exon 9 cc 0 0 tt 0 0 ct 15 1.0