1 | 171061989 | C > T | Intron 2 | | rs4140653 | 0.6354 | 0.037 | | |
2 | 171061990 | A > G | Intron 2 | | rs2064074 | 0.1809 | 0.47 | | Koukouritaki et al. (2005) |
3 | 171072862 | G > T | Intron 2 | | rs28363536 | 0.3712 | 0.198 | | |
4 | 171076813 | T > G | Intron 3 | | | 1 | 0.002 | | |
5 | 171076935 | C > T | Exon 4 | S147S | rs1800822 | 1 | 0.058 | | Koukouritaki et al. (2005), Yamazaki and Shimizu (2013) |
6 | 171076952 | C > T | Exon 4 | P153L | rs72549326 | 1 | 0.002 | Inactive | Treacy et al. (1998), Yeung et al. (2007) |
7 | 171076966 | G > A | Exon 4 | E158K | rs2266782 | 0.1308 | 0.412 | Decreased | Furnes et al. (2003), Koukouritaki et al. (2005), Yeung et al. (2007), Yamazaki and Shimizu (2013) |
8 | 171077038 | GTCT > G | Intron 4 | | rs143661234 | 1 | 0.058 | | |
9 | 171077274 | G > T | Exon 5 | | rs75904274 | 1 | 0.016 | | |
10 | 171077372 | C > G | Intron 5 | | rs2066534 | 0.9376 | 0.209 | | Koukouritaki et al. (2005) |
11 | 171077393 | C > A | Intron 5 | | rs79952472 | 1 | 0.002 | | |
12 | 171079971 | G > A | Exon 6 | V220V | rs373775407 | 1 | 0.002 | | |
13 | 171080080 | G > A | Exon 6 | V257M | rs1736557 | 1 | 0.081 | No change | Furnes et al. (2003), Koukouritaki et al. (2005), Yeung et al. (2007), Yamazaki and Shimizu (2013) |
14 | 171083128 | GTC > G | Intron 6 | | | 1 | 0.002 | | |
15 | 171083174 | C > T | Exon 7 | N285N | rs909530 | 1 | 0.261 | | Furnes et al. (2003), Koukouritaki et al. (2005) |
16 | 171083208 | G > T | Exon 7 | | | 1 | 0.002 | | |
17 | 171083232 | G > T | Exon 7 | E305 | rs61753344 | 1 | 0.002 | Inactive | Treacy et al. (1998) |
18 | 171083242 | A > G | Exon 7 | E308G | rs2266780 | 0.3712 | 0.198 | Decreased | Koukouritaki et al. (2005), Yeung et al. (2007), Yamazaki and Shimizu (2013) |
19 | 171083537 | T > C | Intron 7 | | rs909531 | 0.6644 | 0.209 | | Koukouritaki et al. (2005) |
20 | 171083540 | A > G | Intron 7 | | rs373403267 | 1 | 0.002 | | |
21 | 171086457 | C > T | Exon 9 | R492W | rs72549334 | 1 | 0.002 | Inactive | Yeung et al. (2007) |